#CHROM	POS	REF	ALT	SNV	GENE	VARIATION	CODING	EFFECT
1	930165	G	A	G930165A	SAMD11	NM_001385641.1(SAMD11):c.620G>A:p.Arg207Gln	coding	Benign
1	930204	G	A	G930204A	SAMD11	NM_001385641.1(SAMD11):c.659G>A:p.Arg220Gln	coding	Benign
1	930285	G	A	G930285A	SAMD11	NM_001385641.1(SAMD11):c.740G>A:p.Arg247Gln	coding	Benign
1	930314	C	T	C930314T	SAMD11	NM_001385641.1(SAMD11):c.769C>T:p.His257Tyr	coding	Benign
1	930325	C	T	C930325T	SAMD11	NM_001385641.1(SAMD11):c.780C>T:p.Ile260=	coding	Benign
1	931042	C	T	C931042T	SAMD11	NM_001385641.1(SAMD11):c.795C>T:p.Val265=	coding	Benign
1	935766	C	T	C935766T	SAMD11	NM_001385641.1(SAMD11):c.843-6C>T	noncoding	Benign
1	935779	G	A	G935779A	SAMD11	NM_001385641.1(SAMD11):c.850G>A:p.Gly284Ser	coding	Benign
1	935796	C	T	C935796T	SAMD11	NM_001385641.1(SAMD11):c.867C>T:p.Leu289=	coding	Benign
1	935835	C	G	C935835G	SAMD11	NM_001385641.1(SAMD11):c.906C>G:p.Pro302=	coding	Benign
1	935835	C	T	C935835T	SAMD11	NM_001385641.1(SAMD11):c.906C>T:p.Pro302=	coding	Benign
1	935859	C	T	C935859T	SAMD11	NM_001385641.1(SAMD11):c.930C>T:p.Phe310=	coding	Benign
1	939035	C	T	C939035T	SAMD11	NM_001385641.1(SAMD11):c.968-5C>T	noncoding	Benign
1	939146	G	C	G939146C	SAMD11	NM_001385641.1(SAMD11):c.1057+17G>C	noncoding	Benign
1	939285	G	A	G939285A	SAMD11	NM_001385641.1(SAMD11):c.1068G>A:p.Leu356=	coding	Benign
1	939291	G	T	G939291T	SAMD11	NM_001385641.1(SAMD11):c.1074G>T:p.Pro358=	coding	Benign
1	939354	C	T	C939354T	SAMD11	NM_001385641.1(SAMD11):c.1137C>T:p.Ser379=	coding	Benign
1	939429	G	C	G939429C	SAMD11	NM_001385641.1(SAMD11):c.1195+17G>C	coding	Benign
1	942265	T	G	T942265G	SAMD11	NM_001385641.1(SAMD11):c.1474+14T>G	noncoding	Benign
1	942402	C	G	C942402G	SAMD11	NM_001385641.1(SAMD11):c.1475-8C>G	noncoding	Benign
1	942451	T	C	T942451C	SAMD11	NM_001385641.1(SAMD11):c.1516T>C:p.Trp506Arg	coding	Benign
1	942481	C	T	C942481T	SAMD11	NM_001385641.1(SAMD11):c.1546C>T:p.Leu516=	coding	Benign
1	942541	C	T	C942541T	SAMD11	NM_001385641.1(SAMD11):c.1554-18C>T	noncoding	Benign
1	942560	C	T	C942560T	SAMD11	NM_001385641.1(SAMD11):c.1555C>T:p.Leu519=	coding	Benign
1	942577	C	T	C942577T	SAMD11	NM_001385641.1(SAMD11):c.1572C>T:p.Asp524=	coding	Benign
1	942649	C	T	C942649T	SAMD11	NM_001385641.1(SAMD11):c.1644C>T:p.Asn548=	coding	Benign
1	942916	C	G	C942916G	SAMD11	NM_001385641.1(SAMD11):c.1911C>G:p.Pro637=	coding	Benign
1	942930	T	C	T942930C	SAMD11	NM_001385641.1(SAMD11):c.1925T>C:p.Val642Ala	coding	Benign
1	942934	G	C	G942934C	SAMD11	NM_001385641.1(SAMD11):c.1929G>C:p.Gly643=	coding	Benign
1	942945	C	T	C942945T	SAMD11	NM_001385641.1(SAMD11):c.1940C>T:p.Pro647Leu	coding	Benign
1	942951	C	T	C942951T	SAMD11	NM_001385641.1(SAMD11):c.1946C>T:p.Pro649Leu	coding	Benign
1	943067	C	T	C943067T	SAMD11	NM_001385641.1(SAMD11):c.2053+9C>T	noncoding	Benign
1	943073	A	G	A943073G	SAMD11	NM_001385641.1(SAMD11):c.2053+15A>G	noncoding	Benign
1	943329	C	T	C943329T	SAMD11	NM_001385641.1(SAMD11):c.2130C>T:p.Asp710=	coding	Benign
1	943365	A	C	A943365C	SAMD11	NM_001385641.1(SAMD11):c.2166A>C:p.Gly722=	coding	Benign
1	943384	G	C	G943384C	SAMD11	NM_001385641.1(SAMD11):c.2178+7G>C	noncoding	Benign
1	943389	C	G	C943389G	SAMD11	NM_001385641.1(SAMD11):c.2178+12C>G	noncoding	Benign
1	943689	C	G	C943689G	SAMD11	NM_001385641.1(SAMD11):c.2179-9C>G	noncoding	Benign
1	943755	C	T	C943755T	SAMD11	NM_001385641.1(SAMD11):c.2236C>T:p.Leu746=	coding	Benign
1	943773	C	T	C943773T	SAMD11	NM_001385641.1(SAMD11):c.2254C>T:p.Leu752=	coding	Benign
1	943896	A	G	A943896G	SAMD11	NM_001385641.1(SAMD11):c.2290-12A>G	noncoding	Benign
1	943937	C	T	C943937T	SAMD11	NM_001385641.1(SAMD11):c.2319C>T:p.Tyr773=	coding	Benign
1	943946	C	T	C943946T	SAMD11	NM_001385641.1(SAMD11):c.2328C>T:p.Ser776=	coding	Benign
1	943991	G	A	G943991A	SAMD11	NM_001385641.1(SAMD11):c.2373G>A:p.Pro791=	coding	Benign
1	944001	C	T	C944001T	SAMD11	NM_001385641.1(SAMD11):c.2383C>T:p.Leu795Phe	coding	Benign
1	944003	C	T	C944003T	SAMD11	NM_001385641.1(SAMD11):c.2385C>T:p.Leu795=	coding	Benign
1	944004	G	A	G944004A	SAMD11	NM_001385641.1(SAMD11):c.2386G>A:p.Gly796Ser	coding	Benign
1	944029	C	G	C944029G	SAMD11	NM_001385641.1(SAMD11):c.2411C>G:p.Pro804Arg	coding	Benign
1	944033	G	A	G944033A	SAMD11	NM_001385641.1(SAMD11):c.2415G>A:p.Thr805=	coding	Benign
1	944051	T	C	T944051C	SAMD11	NM_001385641.1(SAMD11):c.2433T>C:p.Tyr811=	coding	Benign
1	944102	G	C	G944102C	SAMD11	NM_001385641.1(SAMD11):c.2484G>C:p.Gly828=	coding	Benign
1	976215	A	G	A976215G	PERM1	NM_001394713.1(PERM1):c.2330T>C:p.Val777Ala	coding	Pathogenic
1	1013490	C	G	C1013490G	ISG15	NM_005101.4(ISG15):c.-84C>G	noncoding	Benign
1	1013541	T	C	T1013541C	ISG15	NM_005101.4(ISG15):c.-33T>C	noncoding	Benign
1	1013855	G	A	G1013855A	ISG15	NM_005101.4(ISG15):c.4-129G>A	noncoding	Benign
1	1013983	G	A	G1013983A	ISG15	NM_005101.4(ISG15):c.4-1G>A	noncoding	Pathogenic
1	1014013	G	A	G1014013A	ISG15	NM_005101.4(ISG15):c.33G>A:p.Ala11=	coding	Benign
1	1014199	G	T	G1014199T	ISG15	NM_005101.4(ISG15):c.219G>T:p.Leu73=	coding	Benign
1	1014274	A	G	A1014274G	ISG15	NM_005101.4(ISG15):c.294A>G:p.Val98=	coding	Benign
1	1019790	G	A	G1019790A	AGRN	Single_allele	noncoding	Benign
1	1022481	G	A	G1022481A	AGRN	NM_198576.4(AGRN):c.463+19G>A	noncoding	Benign
1	1035260	G	A	G1035260A	AGRN	NM_198576.4(AGRN):c.464-17G>A	noncoding	Benign
1	1035408	G	A	G1035408A	AGRN	NM_198576.4(AGRN):c.511+84G>A	noncoding	Benign
1	1035535	C	T	C1035535T	AGRN	NM_198576.4(AGRN):c.511+211C>T	noncoding	Benign
1	1040401	C	T	C1040401T	AGRN	NM_198576.4(AGRN):c.512-264C>T	noncoding	Benign
1	1041134	C	A	C1041134A	AGRN	NM_198576.4(AGRN):c.728-39C>A	noncoding	Benign
1	1041158	A	C	A1041158C	AGRN	NM_198576.4(AGRN):c.728-15A>C	noncoding	Benign
1	1042101	G	A	G1042101A	AGRN	NM_198576.4(AGRN):c.1323G>A:p.Trp441Ter	coding	Pathogenic
1	1043197	G	C	G1043197C	AGRN	NM_198576.4(AGRN):c.1385-42G>C	noncoding	Pathogenic
1	1044057	C	T	C1044057T	AGRN	NM_198576.4(AGRN):c.1999+34C>T	noncoding	Benign
1	1044111	G	T	G1044111T	AGRN	NM_198576.4(AGRN):c.2002G>T:p.Glu668Ter	coding	Pathogenic
1	1044310	G	A	G1044310A	AGRN	NM_198576.4(AGRN):c.2149-24G>A	noncoding	Benign
1	1044510	C	T	C1044510T	AGRN	NM_198576.4(AGRN):c.2254+71C>T	noncoding	Benign
1	1044697	C	T	C1044697T	AGRN	NM_198576.4(AGRN):c.2254+258C>T	noncoding	Benign
1	1044896	C	T	C1044896T	AGRN	NM_198576.4(AGRN):c.2255-265C>T	noncoding	Benign
1	1045183	G	A	G1045183A	AGRN	NM_198576.4(AGRN):c.2277G>A:p.Pro759=	coding	Benign/Likely_benign
1	1045288	G	A	G1045288A	AGRN	NM_198576.4(AGRN):c.2371+11G>A	noncoding	Benign
1	1045719	G	A	G1045719A	AGRN	NM_198576.4(AGRN):c.2537-14G>A	noncoding	Benign
1	1045948	C	G	C1045948G	AGRN	NM_198576.4(AGRN):c.2681-16C>G	noncoding	Benign/Likely_benign
1	1046478	C	T	C1046478T	AGRN	NM_198576.4(AGRN):c.2993C>T:p.Pro998Leu	coding	Benign/Likely_benign
1	1047102	C	T	C1047102T	AGRN	NM_198576.4(AGRN):c.3388+145C>T	noncoding	Benign
1	1047104	C	T	C1047104T	AGRN	NM_198576.4(AGRN):c.3388+147C>T	noncoding	Benign
1	1047193	C	T	C1047193T	AGRN	NM_198576.4(AGRN):c.3389-134C>T	noncoding	Benign
1	1047468	G	A	G1047468A	AGRN	NM_198576.4(AGRN):c.3516+14G>A	noncoding	Benign
1	1047868	C	T	C1047868T	AGRN	NM_198576.4(AGRN):c.3724C>T:p.Gln1242Ter	coding	Pathogenic
1	1050067	G	T	G1050067T	AGRN	NM_198576.4(AGRN):c.4879+30G>T	noncoding	Benign
1	1050070	G	A	G1050070A	AGRN	NM_198576.4(AGRN):c.4879+33G>A	noncoding	Benign
1	1050449	G	A	G1050449A	AGRN	NM_198576.4(AGRN):c.4999G>A:p.Val1667Met	coding	Pathogenic
1	1050630	T	C	T1050630C	AGRN	NM_198576.4(AGRN):c.5141+39T>C	noncoding	Benign
1	1050658	G	A	G1050658A	AGRN	NM_198576.4(AGRN):c.5141+67G>A	noncoding	Benign
1	1050658	G	C	G1050658C	AGRN	NM_198576.4(AGRN):c.5141+67G>C	noncoding	Benign
1	1050855	C	G	C1050855G	AGRN	NM_198576.4(AGRN):c.5253+18C>G	noncoding	Benign
1	1050906	C	T	C1050906T	AGRN	NM_198576.4(AGRN):c.5253+69C>T	noncoding	Benign
1	1053840	G	A	G1053840A	AGRN	NM_198576.4(AGRN):c.5739G>A:p.Thr1913=	coding	Benign
1	1054081	G	A	G1054081A	AGRN	NM_198576.4(AGRN):c.5876+104G>A	noncoding	Benign
1	1054120	G	A	G1054120A	AGRN	NM_198576.4(AGRN):c.5876+143G>A	noncoding	Benign
1	1055037	T	C	T1055037C	AGRN	NM_198576.4(AGRN):c.*56T>C	noncoding	Benign
1	1055137	C	T	C1055137T	AGRN	NM_198576.4(AGRN):c.*156C>T	noncoding	Benign
1	1055153	G	A	G1055153A	AGRN	NM_198576.4(AGRN):c.*172G>A	noncoding	Benign
1	1211644	G	A	G1211644A	TNFRSF4	NM_003327.4(TNFRSF4):c.764-19C>T	noncoding	Benign
1	1211863	A	C	A1211863C	TNFRSF4	NM_003327.4(TNFRSF4):c.635-31T>G	noncoding	Benign
1	1211917	G	A	G1211917A	TNFRSF4	NM_003327.4(TNFRSF4):c.634+25C>T	noncoding	Benign
1	1212182	G	A	G1212182A	TNFRSF4	NM_003327.4(TNFRSF4):c.438-44C>T	noncoding	Benign
1	1212390	G	A	G1212390A	TNFRSF4	NM_003327.4(TNFRSF4):c.437+248C>T	noncoding	Benign
1	1212720	G	A	G1212720A	TNFRSF4	NM_003327.4(TNFRSF4):c.371-16C>T	noncoding	Benign
1	1212720	G	C	G1212720C	TNFRSF4	NM_003327.4(TNFRSF4):c.371-16C>G	noncoding	Benign
1	1212974	C	G	C1212974G	TNFRSF4	NM_003327.4(TNFRSF4):c.370+18G>C	noncoding	Benign
1	1212975	G	A	G1212975A	TNFRSF4	NM_003327.4(TNFRSF4):c.370+17C>T	noncoding	Benign
1	1212978	G	A	G1212978A	TNFRSF4	NM_003327.4(TNFRSF4):c.370+14C>T	noncoding	Benign
1	1213709	G	A	G1213709A	TNFRSF4	NM_003327.4(TNFRSF4):c.222C>T:p.Asp74=	coding	Benign
1	1213800	G	A	G1213800A	TNFRSF4	NM_003327.4(TNFRSF4):c.146-15C>T	noncoding	Benign
1	1232280	T	C	T1232280C	B3GALT6	NM_080605.4(B3GALT6):c.2T>C:p.Met1Thr	coding	Pathogenic
1	1232735	C	A	C1232735A	B3GALT6	NM_080605.4(B3GALT6):c.457C>A:p.Leu153Ile	coding	Benign
1	1233044	C	T	C1233044T	B3GALT6	NM_080605.4(B3GALT6):c.766C>T:p.Arg256Trp	coding	Pathogenic
1	1312208	G	T	G1312208T	INTS11	NM_017871.6(INTS11):c.1607+18C>A	noncoding	Benign
1	1313807	G	A	G1313807A	INTS11	NM_017871.6(INTS11):c.882C>T:p.Phe294=	coding	Benign
1	1334108	G	A	G1334108A	TAS1R3	NM_152228.3(TAS1R3):c.2203G>A:p.Ala735Thr	coding	Benign
1	1336256	G	A	G1336256A	DVL1	NM_001330311.2(DVL1):c.1974C>T:p.Pro658=	coding	Benign
1	1336269	A	G	A1336269G	DVL1	NM_001330311.2(DVL1):c.1961T>C:p.Val654Ala	coding	Benign
1	1336319	G	A	G1336319A	DVL1	NM_001330311.2(DVL1):c.1911C>T:p.Thr637=	coding	Benign
1	1336370	C	T	C1336370T	DVL1	NM_001330311.2(DVL1):c.1860G>A:p.Pro620=	coding	Benign
1	1336376	C	T	C1336376T	DVL1	NM_001330311.2(DVL1):c.1854G>A:p.Glu618=	coding	Benign
1	1336404	G	A	G1336404A	DVL1	NM_001330311.2(DVL1):c.1826C>T:p.Pro609Leu	coding	Benign
1	1336467	C	T	C1336467T	DVL1	NM_001330311.2(DVL1):c.1763G>A:p.Arg588His	coding	Benign
1	1336473	G	C	G1336473C	DVL1	NM_001330311.2(DVL1):c.1757C>G:p.Pro586Arg	coding	Benign/Likely_benign
1	1336524	G	T	G1336524T	DVL1	NM_001330311.2(DVL1):c.1715-9C>A	noncoding	Benign
1	1336562	C	T	C1336562T	DVL1	NM_001330311.2(DVL1):c.1715-47G>A	noncoding	Benign
1	1336569	G	A	G1336569A	DVL1	NM_001330311.2(DVL1):c.1715-54C>T	noncoding	Benign
1	1336848	G	A	G1336848A	DVL1	NM_001330311.2(DVL1):c.1715-333C>T	noncoding	Benign
1	1337117	A	G	A1337117G	DVL1	NM_001330311.2(DVL1):c.1715-602T>C	noncoding	Benign
1	1337736	A	G	A1337736G	DVL1	NM_001330311.2(DVL1):c.1714+241T>C	noncoding	Benign
1	1337898	A	G	A1337898G	DVL1	NM_001330311.2(DVL1):c.1714+79T>C	noncoding	Benign
1	1338254	G	A	G1338254A	DVL1	NM_001330311.2(DVL1):c.1507+15C>T	noncoding	Benign/Likely_benign
1	1338306	G	C	G1338306C	DVL1	NM_001330311.2(DVL1):c.1470C>G:p.Ser490=	coding	Benign
1	1338580	C	T	C1338580T	DVL1	NM_001330311.2(DVL1):c.1281G>A:p.Ser427=	coding	Benign
1	1338862	A	G	A1338862G	DVL1	NM_001330311.2(DVL1):c.1208-209T>C	noncoding	Benign
1	1338970	A	G	A1338970G	DVL1	NM_001330311.2(DVL1):c.1207+317T>C	noncoding	Benign
1	1339161	G	A	G1339161A	DVL1	NM_001330311.2(DVL1):c.1207+126C>T	noncoding	Benign
1	1339363	G	T	G1339363T	DVL1	NM_001330311.2(DVL1):c.1131C>A:p.Tyr377Ter	coding	Pathogenic
1	1339455	G	A	G1339455A	DVL1	NM_001330311.2(DVL1):c.1055-16C>T	noncoding	Benign
1	1339911	G	A	G1339911A	DVL1	NM_001330311.2(DVL1):c.910-99C>T	noncoding	Benign
1	1340019	G	A	G1340019A	DVL1	NM_001330311.2(DVL1):c.909+19C>T	noncoding	Benign
1	1340184	G	A	G1340184A	DVL1	NM_001330311.2(DVL1):c.770-7C>T	noncoding	Benign
1	1340312	G	A	G1340312A	DVL1	NM_001330311.2(DVL1):c.704C>T:p.Ser235Phe	coding	Benign
1	1340314	G	A	G1340314A	DVL1	NM_001330311.2(DVL1):c.702C>T:p.Ala234=	coding	Benign
1	1340336	T	A	T1340336A	DVL1	NM_001330311.2(DVL1):c.700-20A>T	noncoding	Benign
1	1340399	C	A	C1340399A	DVL1	NM_001330311.2(DVL1):c.699+11G>T	noncoding	Benign
1	1340399	C	T	C1340399T	DVL1	NM_001330311.2(DVL1):c.699+11G>A	noncoding	Benign
1	1340576	C	T	C1340576T	DVL1	NM_001330311.2(DVL1):c.606-73G>A	noncoding	Benign
1	1340697	G	A	G1340697A	DVL1	NM_001330311.2(DVL1):c.606-194C>T	noncoding	Benign
1	1341749	G	C	G1341749C	DVL1	NM_001330311.2(DVL1):c.523C>G:p.Pro175Ala	coding	Benign
1	1341803	C	T	C1341803T	DVL1	NM_001330311.2(DVL1):c.469G>A:p.Ala157Thr	coding	Benign
1	1342153	T	C	T1342153C	DVL1	NM_001330311.2(DVL1):c.366A>G:p.Pro122=	coding	Benign
1	1342216	C	T	C1342216T	DVL1	NM_001330311.2(DVL1):c.363-60G>A	noncoding	Benign
1	1342269	G	T	G1342269T	DVL1	NM_001330311.2(DVL1):c.362+94C>A	noncoding	Benign
1	1342345	C	A	C1342345A	DVL1	NM_001330311.2(DVL1):c.362+18G>T	noncoding	Benign
1	1342355	G	A	G1342355A	DVL1	NM_001330311.2(DVL1):c.362+8C>T	noncoding	Benign
1	1342857	T	C	T1342857C	DVL1	NM_001330311.2(DVL1):c.171-99A>G	noncoding	Benign
1	1342873	C	T	C1342873T	DVL1	NM_001330311.2(DVL1):c.171-115G>A	noncoding	Benign
1	1349110	G	A	G1349110A	DVL1	NM_001330311.2(DVL1):c.-45C>T	noncoding	Benign
1	1436947	C	T	C1436947T	VWA1	NM_022834.5(VWA1):c.94C>T:p.Arg32Ter	coding	Pathogenic/Likely_pathogenic
1	1437401	C	G	C1437401G	VWA1	NM_022834.5(VWA1):c.548C>G:p.Ser183Ter	coding	Pathogenic
1	1438906	C	T	C1438906T	VWA1	NM_022834.5(VWA1):c.632-175C>T	noncoding	Benign
1	1439425	G	C	G1439425C	VWA1	NM_022834.5(VWA1):c.976G>C:p.Ala326Pro	coding	Benign
1	1439454	A	G	A1439454G	VWA1	NM_022834.5(VWA1):c.1005A>G:p.Pro335=	coding	Benign
1	1439805	G	C	G1439805C	VWA1	NM_022834.5(VWA1):c.*18G>C	noncoding	Benign
1	1439827	T	C	T1439827C	VWA1	NM_022834.5(VWA1):c.*40T>C	noncoding	Benign
1	1454394	C	T	C1454394T	ATAD3C	NM_001039211.3(ATAD3C):c.272C>T:p.Ala91Val	coding	Benign
1	1480856	C	G	C1480856G	ATAD3B	NM_031921.6(ATAD3B):c.445-11C>G	noncoding	Benign
1	1522875	T	G	T1522875G	ATAD3A	NM_001170535.3(ATAD3A):c.882T>G:p.Leu294=	coding	Benign
1	1527718	A	G	A1527718G	ATAD3A	NM_001170535.3(ATAD3A):c.1361A>G:p.Asn454Ser	coding	Pathogenic/Likely_pathogenic
1	1533841	T	C	T1533841C	ATAD3A	NM_001170535.3(ATAD3A):c.1615-85T>C	noncoding	Benign
1	1534166	G	A	G1534166A	ATAD3A	NM_001170535.3(ATAD3A):c.*94G>A	noncoding	Benign
1	1534218	C	G	C1534218G	ATAD3A	NM_001170535.3(ATAD3A):c.*146C>G	noncoding	Benign
1	1534219	G	C	G1534219C	ATAD3A	NM_001170535.3(ATAD3A):c.*147G>C	noncoding	Benign
1	1534226	C	T	C1534226T	ATAD3A	NM_001170535.3(ATAD3A):c.*154C>T	noncoding	Benign
1	1535427	C	T	C1535427T	TMEM240	NM_001114748.2(TMEM240):c.454G>A:p.Ala152Thr	coding	Benign
1	1535512	G	A	G1535512A	TMEM240	NM_001114748.2(TMEM240):c.374-5C>T	noncoding	Benign
1	1539491	G	C	G1539491C	TMEM240	NM_001114748.2(TMEM240):c.164+193C>G	noncoding	Benign
1	1540421	C	T	C1540421T	TMEM240	NM_001114748.2(TMEM240):c.-75G>A	noncoding	Benign
1	1787203	C	A	C1787203A	GNB1	NM_002074.5(GNB1):c.*9+119G>T	noncoding	Benign
1	1787438	C	A	C1787438A	GNB1	NM_002074.5(GNB1):c.917-1G>T	coding	Pathogenic
1	1789069	G	A	G1789069A	GNB1	NM_002074.5(GNB1):c.900C>T:p.Leu300=	coding	Benign
1	1789084	G	A	G1789084A	GNB1	NM_002074.5(GNB1):c.885C>T:p.Asn295=	coding	Benign
1	1789289	C	A	C1789289A	GNB1	NM_002074.5(GNB1):c.700-20G>T	noncoding	Benign
1	1790444	A	G	A1790444G	GNB1	NM_002074.5(GNB1):c.650T>C:p.Met217Thr	coding	Benign
1	1790578	C	G	C1790578G	GNB1	NM_002074.5(GNB1):c.516G>C:p.Glu172Asp	coding	Benign
1	1790609	C	T	C1790609T	GNB1	NM_002074.5(GNB1):c.498-13G>A	noncoding	Benign
1	1793270	C	T	C1793270T	GNB1	NM_002074.5(GNB1):c.472G>A:p.Val158Ile	coding	Benign
1	1804497	C	A	C1804497A	GNB1	NM_002074.5(GNB1):c.352G>T:p.Asp118Tyr	coding	Pathogenic
1	1804502	C	A	C1804502A	GNB1	NM_002074.5(GNB1):c.347G>T:p.Gly116Val	coding	Pathogenic
1	1804508	C	T	C1804508T	GNB1	NM_002074.5(GNB1):c.341G>A:p.Cys114Tyr	coding	Pathogenic
1	1804562	C	A	C1804562A	GNB1	NM_002074.5(GNB1):c.287G>T:p.Arg96Leu	coding	Pathogenic
1	1804565	A	G	A1804565G	GNB1	NM_002074.5(GNB1):c.284T>C:p.Leu95Pro	coding	Pathogenic/Likely_pathogenic
1	1804582	C	A	C1804582A	GNB1	NM_002074.5(GNB1):c.268-1G>T	coding	Pathogenic
1	1806456	G	A	G1806456A	GNB1	NM_002074.5(GNB1):c.267+19C>T	noncoding	Benign
1	1806461	C	T	C1806461T	GNB1	NM_002074.5(GNB1):c.267+14G>A	noncoding	Benign
1	1806513	C	A	C1806513A	GNB1	NM_002074.5(GNB1):c.229G>T:p.Gly77Cys	coding	Pathogenic
1	1806513	C	T	C1806513T	GNB1	NM_002074.5(GNB1):c.229G>A:p.Gly77Ser	coding	Pathogenic/Likely_pathogenic
1	1806516	C	T	C1806516T	GNB1	NM_002074.5(GNB1):c.226G>A:p.Asp76Asn	coding	Pathogenic/Likely_pathogenic
1	1815749	C	T	C1815749T	GNB1	NM_002074.5(GNB1):c.203+7G>A	noncoding	Benign
1	1815796	G	C	G1815796C	GNB1	NM_002074.5(GNB1):c.163C>G:p.Leu55Val	coding	Pathogenic
1	1815879	T	C	T1815879C	GNB1	NM_002074.5(GNB1):c.97-17A>G	noncoding	Benign
1	2019509	G	A	G2019509A	GABRD	NM_000815.5(GABRD):c.68+18G>A	noncoding	Benign
1	2025758	G	A	G2025758A	GABRD	NM_000815.5(GABRD):c.470+20G>A	noncoding	Benign
1	2029166	G	C	G2029166C	GABRD	NM_000815.5(GABRD):c.747G>C:p.Val249=	coding	Benign
1	2228825	C	T	C2228825T	SKI	NM_003036.4(SKI):c.59C>T:p.Thr20Met	coding	Pathogenic
1	2229031	C	T	C2229031T	SKI	NM_003036.4(SKI):c.265C>T:p.Pro89Ser	coding	Pathogenic
1	2229270	C	T	C2229270T	SKI	NM_003036.4(SKI):c.504C>T:p.Pro168=	coding	Benign
1	2303002	A	G	A2303002G	SKI	NM_003036.4(SKI):c.994A>G:p.Ile332Val	coding	Benign/Likely_benign
1	2303121	G	A	G2303121A	SKI	NM_003036.4(SKI):c.1095+18G>A	noncoding	Benign
1	2303193	G	A	G2303193A	SKI	NM_003036.4(SKI):c.1095+90G>A	noncoding	Benign
1	2303580	T	C	T2303580C	SKI	NM_003036.4(SKI):c.1211+180T>C	noncoding	Benign
1	2303900	G	A	G2303900A	SKI	NM_003036.4(SKI):c.1272G>A:p.Pro424=	coding	Benign/Likely_benign
1	2304117	C	T	C2304117T	SKI	NM_003036.4(SKI):c.1474+15C>T	noncoding	Benign
1	2304217	G	A	G2304217A	SKI	NM_003036.4(SKI):c.1475-76G>A	noncoding	Benign
1	2304597	G	A	G2304597A	SKI	NM_003036.4(SKI):c.1767+12G>A	noncoding	Benign
1	2305809	A	G	A2305809G	SKI	NM_003036.4(SKI):c.1768-211A>G	noncoding	Benign
1	2306142	C	A	C2306142A	SKI	NM_003036.4(SKI):c.1890C>A:p.Ala630=	coding	Benign/Likely_benign
1	2306424	C	G	C2306424G	SKI	NM_003036.4(SKI):c.1999-153C>G	noncoding	Benign
1	2306591	G	A	G2306591A	SKI	NM_003036.4(SKI):c.2013G>A:p.Gln671=	coding	Benign/Likely_benign
1	2306798	A	T	A2306798T	SKI	NM_003036.4(SKI):c.*33A>T	noncoding	Benign
1	2406098	C	G	C2406098G	PEX10	NM_002617.4(PEX10):c.913-264G>C	noncoding	Benign
1	2406569	C	G	C2406569G	PEX10	NM_002617.4(PEX10):c.827G>C:p.Cys276Ser	coding	Pathogenic
1	2406687	C	A	C2406687A	PEX10	NM_002617.4(PEX10):c.776+33G>T	noncoding	Benign
1	2406749	C	T	C2406749T	PEX10	NM_002617.4(PEX10):c.747G>A:p.Trp249Ter	coding	Pathogenic
1	2406757	T	A	T2406757A	PEX10	NM_002617.4(PEX10):c.739A>T:p.Lys247Ter	coding	Pathogenic
1	2406769	G	A	G2406769A	PEX10	NM_002617.4(PEX10):c.727C>T:p.Gln243Ter	coding	Pathogenic
1	2406793	G	A	G2406793A	PEX10	NM_002617.4(PEX10):c.703C>T:p.Gln235Ter	coding	Pathogenic
1	2407130	T	C	T2407130C	PEX10	NM_002617.4(PEX10):c.601-235A>G	noncoding	Benign
1	2407219	G	A	G2407219A	PEX10	NM_002617.4(PEX10):c.601-324C>T	noncoding	Benign
1	2408170	A	G	A2408170G	PEX10	NM_002617.4(PEX10):c.600+282T>C	noncoding	Benign
1	2408833	G	C	G2408833C	PEX10	NM_002617.4(PEX10):c.219C>G:p.Tyr73Ter	coding	Pathogenic
1	2408841	C	A	C2408841A	PEX10	NM_002617.4(PEX10):c.211G>T:p.Glu71Ter	coding	Pathogenic
1	2409065	C	T	C2409065T	PEX10	NM_002617.4(PEX10):c.194-207G>A	noncoding	Benign
1	2412603	G	C	G2412603C	PEX10	NM_001374426.1(PEX10):c.-321+994C>G	noncoding	Benign/Likely_benign
1	2491175	G	A	G2491175A	PLCH2	NM_014638.4(PLCH2):c.1516-17G>A	noncoding	Benign
1	2520467	C	T	C2520467T	PANK4	NM_018216.4(PANK4):c.607-53G>A	noncoding	Pathogenic
1	2629443	G	A	G2629443A	MMEL1	NM_033467.4(MMEL1):c.42C>T:p.Ala14=	coding	Benign
1	2629464	T	G	T2629464G	MMEL1	NM_033467.4(MMEL1):c.21A>C:p.Pro7=	coding	Benign
1	3244156	C	G	C3244156G	PRDM16	NM_022114.4(PRDM16):c.438+19C>G	noncoding	Benign
1	3244156	C	T	C3244156T	PRDM16	NM_022114.4(PRDM16):c.438+19C>T	noncoding	Benign
1	3373043	T	C	T3373043C	PRDM16	NM_022114.4(PRDM16):c.439-12109T>C	noncoding	Benign
1	3385247	C	A	C3385247A	PRDM16	NM_022114.4(PRDM16):c.534C>A:p.Cys178Ter	coding	Pathogenic
1	3385303	A	G	A3385303G	PRDM16	NM_022114.4(PRDM16):c.573+17A>G	noncoding	Benign/Likely_benign
1	3403243	C	T	C3403243T	PRDM16	NM_022114.4(PRDM16):c.884+245C>T	noncoding	Benign
1	3411824	C	T	C3411824T	PRDM16	NM_022114.4(PRDM16):c.1627C>T:p.Gln543Ter	coding	Pathogenic
1	3412705	C	T	C3412705T	PRDM16	NM_022114.4(PRDM16):c.2508C>T:p.Gly836=	coding	Benign/Likely_benign
1	3414641	C	T	C3414641T	PRDM16	NM_022114.4(PRDM16):c.2685C>T:p.His895=	coding	Benign/Likely_benign
1	3425545	G	T	G3425545T	PRDM16	NM_022114.4(PRDM16):c.2940-36G>T	noncoding	Benign
1	3425563	C	T	C3425563T	PRDM16	NM_022114.4(PRDM16):c.2940-18C>T	noncoding	Benign/Likely_benign
1	3426038	C	T	C3426038T	PRDM16	NM_022114.4(PRDM16):c.3110-13C>T	noncoding	Benign/Likely_benign
1	3430875	G	A	G3430875A	PRDM16	NM_022114.4(PRDM16):c.3288G>A:p.Ala1096=	coding	Benign/Likely_benign
1	3431278	G	C	G3431278C	PRDM16	NM_022114.4(PRDM16):c.3521+170G>C	noncoding	Benign
1	3433609	T	C	T3433609C	PRDM16	NM_022114.4(PRDM16):c.3697-68T>C	noncoding	Benign
1	3433772	G	A	G3433772A	PRDM16	NM_022114.4(PRDM16):c.3792G>A:p.Thr1264=	coding	Benign/Likely_benign
1	3433845	G	A	G3433845A	PRDM16	NM_022114.4(PRDM16):c.*34G>A	noncoding	Benign
1	3433861	A	G	A3433861G	PRDM16	NM_022114.4(PRDM16):c.*50A>G	noncoding	Benign
1	3433884	C	T	C3433884T	PRDM16	NM_022114.4(PRDM16):c.*73C>T	noncoding	Benign
1	3722204	G	T	G3722204T	TP73	NM_005427.4(TP73):c.613G>T:p.Glu205Ter	coding	Pathogenic/Likely_pathogenic
1	3728137	C	T	C3728137T	TP73	NM_005427.4(TP73):c.994C>T:p.Gln332Ter	coding	Pathogenic
1	3729449	G	A	G3729449A	TP73	NM_005427.4(TP73):c.1196+1G>A	coding	Pathogenic
1	3815093	C	T	C3815093T	CEP104	NM_014704.4(CEP104):c.*309G>A	noncoding	Benign
1	3815395	C	T	C3815395T	CEP104	NM_014704.4(CEP104):c.*7G>A	noncoding	Benign
1	3815401	G	A	G3815401A	CEP104	NM_014704.4(CEP104):c.*1C>T	noncoding	Benign
1	3815539	T	C	T3815539C	CEP104	NM_014704.4(CEP104):c.2663-22A>G	noncoding	Benign
1	3815608	C	T	C3815608T	CEP104	NM_014704.4(CEP104):c.2663-91G>A	noncoding	Benign
1	3816032	G	T	G3816032T	CEP104	NM_014704.4(CEP104):c.2662+248C>A	noncoding	Benign
1	3816075	T	A	T3816075A	CEP104	NM_014704.4(CEP104):c.2662+205A>T	noncoding	Benign
1	3816143	T	C	T3816143C	CEP104	NM_014704.4(CEP104):c.2662+137A>G	noncoding	Benign
1	3816218	T	C	T3816218C	CEP104	NM_014704.4(CEP104):c.2662+62A>G	noncoding	Benign
1	3816597	C	G	C3816597G	CEP104	NM_014704.4(CEP104):c.2572-227G>C	noncoding	Benign
1	3816653	C	A	C3816653A	CEP104	NM_014704.4(CEP104):c.2572-283G>T	noncoding	Benign
1	3822948	G	A	G3822948A	CEP104	NM_014704.4(CEP104):c.2571+226C>T	noncoding	Benign
1	3823047	C	A	C3823047A	CEP104	NM_014704.4(CEP104):c.2571+127G>T	noncoding	Benign
1	3823181	C	T	C3823181T	CEP104	NM_014704.4(CEP104):c.2564G>A:p.Gly855Glu	coding	Benign
1	3823670	G	A	G3823670A	CEP104	NM_014704.4(CEP104):c.2365-108C>T	noncoding	Benign
1	3823706	G	A	G3823706A	CEP104	NM_014704.4(CEP104):c.2365-144C>T	noncoding	Benign
1	3823862	T	C	T3823862C	CEP104	NM_014704.4(CEP104):c.2365-300A>G	noncoding	Benign
1	3825421	T	C	T3825421C	CEP104	NM_014704.4(CEP104):c.2364+337A>G	noncoding	Benign
1	3825445	C	T	C3825445T	CEP104	NM_014704.4(CEP104):c.2364+313G>A	noncoding	Benign
1	3825539	C	T	C3825539T	CEP104	NM_014704.4(CEP104):c.2364+219G>A	noncoding	Benign
1	3825615	G	A	G3825615A	CEP104	NM_014704.4(CEP104):c.2364+143C>T	noncoding	Benign
1	3825693	C	T	C3825693T	CEP104	NM_014704.4(CEP104):c.2364+65G>A	noncoding	Benign
1	3825996	G	A	G3825996A	CEP104	NM_014704.4(CEP104):c.2256-130C>T	noncoding	Benign
1	3826360	C	T	C3826360T	CEP104	NM_014704.4(CEP104):c.2255+10G>A	noncoding	Benign
1	3826391	G	A	G3826391A	CEP104	NM_014704.4(CEP104):c.2234C>T:p.Pro745Leu	coding	Benign
1	3826545	A	G	A3826545G	CEP104	NM_014704.4(CEP104):c.2189-109T>C	noncoding	Benign
1	3826568	T	C	T3826568C	CEP104	NM_014704.4(CEP104):c.2189-132A>G	noncoding	Benign
1	3826587	G	A	G3826587A	CEP104	NM_014704.4(CEP104):c.2188+121C>T	noncoding	Benign
1	3826622	C	T	C3826622T	CEP104	NM_014704.4(CEP104):c.2188+86G>A	noncoding	Benign
1	3826755	G	A	G3826755A	CEP104	NM_014704.4(CEP104):c.2152-11C>T	noncoding	Benign
1	3826786	G	C	G3826786C	CEP104	NM_014704.4(CEP104):c.2152-42C>G	noncoding	Benign
1	3826827	C	T	C3826827T	CEP104	NM_014704.4(CEP104):c.2152-83G>A	noncoding	Benign
1	3828993	G	T	G3828993T	CEP104	NM_014704.4(CEP104):c.2151+273C>A	noncoding	Benign
1	3829157	C	T	C3829157T	CEP104	NM_014704.4(CEP104):c.2151+109G>A	noncoding	Benign
1	3829223	T	C	T3829223C	CEP104	NM_014704.4(CEP104):c.2151+43A>G	noncoding	Benign
1	3829306	C	T	C3829306T	CEP104	NM_014704.4(CEP104):c.2111G>A:p.Gly704Glu	coding	Benign/Likely_benign
1	3829360	G	A	G3829360A	CEP104	NM_014704.4(CEP104):c.2057C>T:p.Ala686Val	coding	Benign
1	3829552	A	G	A3829552G	CEP104	NM_014704.4(CEP104):c.2044-179T>C	noncoding	Benign
1	3829690	T	C	T3829690C	CEP104	NM_014704.4(CEP104):c.2043+101A>G	noncoding	Benign
1	3829955	C	A	C3829955A	CEP104	NM_014704.4(CEP104):c.1879G>T:p.Glu627Ter	coding	Pathogenic/Likely_pathogenic
1	3830019	G	T	G3830019T	CEP104	NM_014704.4(CEP104):c.1837-22C>A	noncoding	Benign
1	3830021	T	G	T3830021G	CEP104	NM_014704.4(CEP104):c.1837-24A>C	noncoding	Benign
1	3830025	C	G	C3830025G	CEP104	NM_014704.4(CEP104):c.1837-28G>C	noncoding	Benign
1	3830146	C	T	C3830146T	CEP104	NM_014704.4(CEP104):c.1837-149G>A	noncoding	Benign
1	3831016	C	T	C3831016T	CEP104	NM_014704.4(CEP104):c.1836+30G>A	noncoding	Benign
1	3831032	C	T	C3831032T	CEP104	NM_014704.4(CEP104):c.1836+14G>A	noncoding	Benign/Likely_benign
1	3831039	T	C	T3831039C	CEP104	NM_014704.4(CEP104):c.1836+7A>G	noncoding	Benign
1	3831263	T	C	T3831263C	CEP104	NM_014704.4(CEP104):c.1660-41A>G	noncoding	Benign
1	3831521	A	G	A3831521G	CEP104	NM_014704.4(CEP104):c.1660-299T>C	noncoding	Benign
1	3833603	G	A	G3833603A	CEP104	NM_014704.4(CEP104):c.1659+259C>T	noncoding	Benign
1	3834122	C	T	C3834122T	CEP104	NM_014704.4(CEP104):c.1486-87G>A	noncoding	Benign
1	3834165	A	G	A3834165G	CEP104	NM_014704.4(CEP104):c.1486-130T>C	noncoding	Benign
1	3834167	T	G	T3834167G	CEP104	NM_014704.4(CEP104):c.1486-132A>C	noncoding	Benign
1	3834714	C	G	C3834714G	CEP104	NM_014704.4(CEP104):c.1485+211G>C	noncoding	Benign
1	3834873	C	T	C3834873T	CEP104	NM_014704.4(CEP104):c.1485+52G>A	noncoding	Benign
1	3834895	C	A	C3834895A	CEP104	NM_014704.4(CEP104):c.1485+30G>T	noncoding	Benign
1	3835365	G	T	G3835365T	CEP104	NM_014704.4(CEP104):c.1318-273C>A	noncoding	Benign
1	3835373	C	T	C3835373T	CEP104	NM_014704.4(CEP104):c.1318-281G>A	noncoding	Benign
1	3835402	C	G	C3835402G	CEP104	NM_014704.4(CEP104):c.1318-310G>C	noncoding	Benign
1	3836377	C	T	C3836377T	CEP104	NM_014704.4(CEP104):c.1317+118G>A	noncoding	Benign
1	3836449	G	C	G3836449C	CEP104	NM_014704.4(CEP104):c.1317+46C>G	noncoding	Benign
1	3836469	T	G	T3836469G	CEP104	NM_014704.4(CEP104):c.1317+26A>C	noncoding	Benign
1	3836499	G	T	G3836499T	CEP104	NM_014704.4(CEP104):c.1313C>A:p.Thr438Asn	coding	Benign
1	3836572	A	T	A3836572T	CEP104	NM_014704.4(CEP104):c.1240T>A:p.Leu414Ile	coding	Benign
1	3836751	G	C	G3836751C	CEP104	NM_014704.4(CEP104):c.1120-59C>G	noncoding	Benign
1	3837249	T	C	T3837249C	CEP104	NM_014704.4(CEP104):c.1119+43A>G	noncoding	Benign
1	3837328	C	T	C3837328T	CEP104	NM_014704.4(CEP104):c.1083G>A:p.Pro361=	coding	Benign
1	3839111	T	C	T3839111C	CEP104	NM_014704.4(CEP104):c.744A>G:p.Glu248=	coding	Benign
1	3839305	T	C	T3839305C	CEP104	NM_014704.4(CEP104):c.736-186A>G	noncoding	Benign
1	3839311	T	G	T3839311G	CEP104	NM_014704.4(CEP104):c.736-192A>C	noncoding	Benign
1	3839510	C	A	C3839510A	CEP104	NM_014704.4(CEP104):c.735+98G>T	noncoding	Benign
1	3839556	A	G	A3839556G	CEP104	NM_014704.4(CEP104):c.735+52T>C	noncoding	Benign
1	3839591	T	C	T3839591C	CEP104	NM_014704.4(CEP104):c.735+17A>G	noncoding	Benign
1	3839700	G	A	G3839700A	CEP104	NM_014704.4(CEP104):c.643C>T:p.Arg215Ter	coding	Pathogenic
1	3839898	C	T	C3839898T	CEP104	NM_014704.4(CEP104):c.567-122G>A	noncoding	Benign
1	3839929	T	C	T3839929C	CEP104	NM_014704.4(CEP104):c.567-153A>G	noncoding	Benign
1	3839966	C	A	C3839966A	CEP104	NM_014704.4(CEP104):c.567-190G>T	noncoding	Benign
1	3839968	T	C	T3839968C	CEP104	NM_014704.4(CEP104):c.567-192A>G	noncoding	Benign
1	3844901	T	A	T3844901A	CEP104	NM_014704.4(CEP104):c.566+6A>T	noncoding	Benign
1	3844915	C	T	C3844915T	CEP104	NM_014704.4(CEP104):c.558G>A:p.Thr186=	coding	Benign
1	3845001	C	T	C3845001T	CEP104	NM_014704.4(CEP104):c.490-18G>A	noncoding	Benign/Likely_benign
1	3845086	A	G	A3845086G	CEP104	NM_014704.4(CEP104):c.490-103T>C	noncoding	Benign
1	3845208	C	T	C3845208T	CEP104	NM_014704.4(CEP104):c.489+81G>A	noncoding	Benign
1	3847198	T	A	T3847198A	CEP104	NM_014704.4(CEP104):c.426+277A>T	noncoding	Benign
1	3847300	G	A	G3847300A	CEP104	NM_014704.4(CEP104):c.426+175C>T	noncoding	Benign
1	3847652	C	T	C3847652T	CEP104	NM_014704.4(CEP104):c.288-39G>A	noncoding	Benign
1	3848822	G	A	G3848822A	CEP104	NM_014704.4(CEP104):c.114-41C>T	noncoding	Benign
1	3848860	G	T	G3848860T	CEP104	NM_014704.4(CEP104):c.114-79C>A	noncoding	Benign
1	3848985	G	A	G3848985A	CEP104	NM_014704.4(CEP104):c.114-204C>T	noncoding	Benign
1	3848999	T	C	T3848999C	CEP104	NM_014704.4(CEP104):c.114-218A>G	noncoding	Benign
1	3852001	G	A	G3852001A	CEP104	NM_014704.4(CEP104):c.113+294C>T	noncoding	Benign
1	3852004	T	C	T3852004C	CEP104	NM_014704.4(CEP104):c.113+291A>G	noncoding	Benign
1	3852155	T	C	T3852155C	CEP104	NM_014704.4(CEP104):c.113+140A>G	noncoding	Benign
1	3852165	T	C	T3852165C	CEP104	NM_014704.4(CEP104):c.113+130A>G	noncoding	Benign
1	3852469	A	T	A3852469T	CEP104	NM_014704.4(CEP104):c.-14-48T>A	noncoding	Benign
1	3852470	A	T	A3852470T	CEP104	NM_014704.4(CEP104):c.-14-49T>A	noncoding	Benign
1	3852608	T	C	T3852608C	CEP104	NM_014704.4(CEP104):c.-14-187A>G	noncoding	Benign
1	3852667	A	G	A3852667G	CEP104	NM_014704.4(CEP104):c.-14-246T>C	noncoding	Benign
1	3852698	C	T	C3852698T	CEP104	NM_014704.4(CEP104):c.-14-277G>A	noncoding	Benign
1	3852712	G	C	G3852712C	CEP104	NM_014704.4(CEP104):c.-14-291C>G	noncoding	Benign
1	3852722	C	T	C3852722T	CEP104	NM_014704.4(CEP104):c.-14-301G>A	noncoding	Benign
1	5863728	T	G	T5863728G	NPHP4	NM_015102.5(NPHP4):c.4140+162A>C	noncoding	Benign
1	5864210	T	C	T5864210C	NPHP4	NM_015102.5(NPHP4):c.3996+128A>G	noncoding	Benign
1	5864537	G	A	G5864537A	NPHP4	NM_015102.5(NPHP4):c.3817-20C>T	noncoding	Benign
1	5864666	A	C	A5864666C	NPHP4	NM_015102.5(NPHP4):c.3817-149T>G	noncoding	Benign
1	5864679	C	T	C5864679T	NPHP4	NM_015102.5(NPHP4):c.3817-162G>A	noncoding	Benign
1	5864686	T	C	T5864686C	NPHP4	NM_015102.5(NPHP4):c.3817-169A>G	noncoding	Benign
1	5864980	G	A	G5864980A	NPHP4	NM_015102.5(NPHP4):c.3816+122C>T	noncoding	Benign
1	5865152	G	A	G5865152A	NPHP4	NM_015102.5(NPHP4):c.3766C>T:p.Gln1256Ter	coding	Pathogenic
1	5865453	C	T	C5865453T	NPHP4	NM_015102.5(NPHP4):c.3645-180G>A	noncoding	Benign
1	5866372	C	A	C5866372A	NPHP4	NM_015102.5(NPHP4):c.3644+1G>T	noncoding	Pathogenic/Likely_pathogenic
1	5866372	C	T	C5866372T	NPHP4	NM_015102.5(NPHP4):c.3644+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	5866545	C	T	C5866545T	NPHP4	NM_015102.5(NPHP4):c.3559-87G>A	noncoding	Benign
1	5866598	G	A	G5866598A	NPHP4	NM_015102.5(NPHP4):c.3559-140C>T	noncoding	Benign
1	5866971	A	G	A5866971G	NPHP4	NM_015102.5(NPHP4):c.3558+59T>C	noncoding	Benign
1	5867678	G	A	G5867678A	NPHP4	NM_015102.5(NPHP4):c.3472+62C>T	noncoding	Benign
1	5867754	C	T	C5867754T	NPHP4	NM_015102.5(NPHP4):c.3458G>A:p.Trp1153Ter	coding	Pathogenic
1	5867898	T	C	T5867898C	NPHP4	NM_015102.5(NPHP4):c.3316-2A>G	noncoding	Pathogenic
1	5868073	C	T	C5868073T	NPHP4	NM_015102.5(NPHP4):c.3316-177G>A	noncoding	Benign
1	5873285	C	T	C5873285T	NPHP4	NM_015102.5(NPHP4):c.3282G>A:p.Trp1094Ter	coding	Pathogenic
1	5873347	G	A	G5873347A	NPHP4	NM_015102.5(NPHP4):c.3232-12C>T	noncoding	Benign
1	5873470	A	G	A5873470G	NPHP4	NM_015102.5(NPHP4):c.3232-135T>C	noncoding	Benign
1	5874364	G	A	G5874364A	NPHP4	NM_015102.5(NPHP4):c.3231+107C>T	noncoding	Benign
1	5874488	G	A	G5874488A	NPHP4	NM_015102.5(NPHP4):c.3214C>T:p.Gln1072Ter	coding	Pathogenic
1	5874557	G	A	G5874557A	NPHP4	NM_015102.5(NPHP4):c.3145C>T:p.Pro1049Ser	coding	Benign
1	5874777	C	T	C5874777T	NPHP4	NM_015102.5(NPHP4):c.3044+97G>A	noncoding	Benign
1	5874827	C	T	C5874827T	NPHP4	NM_015102.5(NPHP4):c.3044+47G>A	noncoding	Benign
1	5874854	G	A	G5874854A	NPHP4	NM_015102.5(NPHP4):c.3044+20C>T	noncoding	Benign
1	5875162	T	C	T5875162C	NPHP4	NM_015102.5(NPHP4):c.2818-62A>G	noncoding	Benign
1	5875341	C	T	C5875341T	NPHP4	NM_015102.5(NPHP4):c.2818-241G>A	noncoding	Benign
1	5877031	T	C	T5877031C	NPHP4	NM_015102.5(NPHP4):c.2817+62A>G	noncoding	Benign
1	5877284	G	A	G5877284A	NPHP4	NM_015102.5(NPHP4):c.2626C>T:p.Gln876Ter	coding	Pathogenic
1	5877353	A	C	A5877353C	NPHP4	NM_015102.5(NPHP4):c.2612-55T>G	noncoding	Benign
1	5880114	G	A	G5880114A	NPHP4	NM_015102.5(NPHP4):c.2611C>T:p.Arg871Ter	coding	Pathogenic
1	5880183	G	A	G5880183A	NPHP4	NM_015102.5(NPHP4):c.2542C>T:p.Arg848Trp	coding	Benign/Likely_benign
1	5887157	G	C	G5887157C	NPHP4	NM_015102.5(NPHP4):c.2485+129C>G	noncoding	Benign
1	5887326	C	T	C5887326T	NPHP4	NM_015102.5(NPHP4):c.2445G>A:p.Ser815=	coding	Benign
1	5890770	T	C	T5890770C	NPHP4	NM_015102.5(NPHP4):c.2304+98A>G	noncoding	Benign
1	5904806	T	G	T5904806G	NPHP4	NM_015102.5(NPHP4):c.1956-2A>C	noncoding	Pathogenic
1	5904931	T	C	T5904931C	NPHP4	NM_015102.5(NPHP4):c.1956-127A>G	noncoding	Benign
1	5905119	A	G	A5905119G	NPHP4	NM_015102.5(NPHP4):c.1955+173T>C	noncoding	Benign
1	5905311	G	A	G5905311A	NPHP4	NM_015102.5(NPHP4):c.1936C>T:p.Gln646Ter	coding	Pathogenic
1	5907004	G	T	G5907004T	NPHP4	NM_015102.5(NPHP4):c.1611+111C>A	noncoding	Benign
1	5909079	G	A	G5909079A	NPHP4	NM_015102.5(NPHP4):c.1503+73C>T	noncoding	Benign
1	5909402	A	G	A5909402G	NPHP4	NM_015102.5(NPHP4):c.1442-189T>C	noncoding	Benign
1	5927918	A	G	A5927918G	NPHP4	NM_015102.5(NPHP4):c.1303-131T>C	noncoding	Benign
1	5933342	C	A	C5933342A	NPHP4	NM_015102.5(NPHP4):c.1120-13G>T	noncoding	Benign/Likely_benign
1	5947148	G	A	G5947148A	NPHP4	NM_015102.5(NPHP4):c.1075C>T:p.Gln359Ter	coding	Pathogenic
1	5947286	G	A	G5947286A	NPHP4	NM_015102.5(NPHP4):c.993-56C>T	noncoding	Benign
1	5947386	C	T	C5947386T	NPHP4	NM_015102.5(NPHP4):c.993-156G>A	noncoding	Benign
1	5947414	G	A	G5947414A	NPHP4	NM_015102.5(NPHP4):c.993-184C>T	noncoding	Benign
1	5952686	T	G	T5952686G	NPHP4	NM_015102.5(NPHP4):c.810+14A>C	noncoding	Benign
1	5952825	G	A	G5952825A	NPHP4	NM_015102.5(NPHP4):c.685C>T:p.Arg229Ter	coding	Pathogenic
1	5953069	G	A	G5953069A	NPHP4	NM_015102.5(NPHP4):c.674-233C>T	noncoding	Benign
1	5961644	T	C	T5961644C	NPHP4	NM_015102.5(NPHP4):c.673+150A>G	noncoding	Benign
1	5961950	C	G	C5961950G	NPHP4	NM_015102.5(NPHP4):c.518-1G>C	coding	Pathogenic
1	5967107	C	A	C5967107A	NPHP4	NM_015102.5(NPHP4):c.517+192G>T	noncoding	Benign
1	5967192	A	G	A5967192G	NPHP4	NM_015102.5(NPHP4):c.517+107T>C	noncoding	Benign
1	5967298	C	T	C5967298T	NPHP4	NM_015102.5(NPHP4):c.517+1G>A	noncoding	Pathogenic
1	5967490	C	T	C5967490T	NPHP4	NM_015102.5(NPHP4):c.453-127G>A	noncoding	Benign
1	5967533	G	A	G5967533A	NPHP4	NM_015102.5(NPHP4):c.453-170C>T	noncoding	Benign
1	5969475	T	C	T5969475C	NPHP4	NM_015102.5(NPHP4):c.280-216A>G	noncoding	Benign
1	5978374	G	A	G5978374A	NPHP4	NM_015102.5(NPHP4):c.175C>T:p.Arg59Ter	coding	Pathogenic
1	5978523	G	C	G5978523C	NPHP4	NM_015102.5(NPHP4):c.136-110C>G	noncoding	Benign
1	5978637	C	G	C5978637G	NPHP4	NM_015102.5(NPHP4):c.136-224G>C	noncoding	Benign
1	5986168	G	A	G5986168A	NPHP4	NM_015102.5(NPHP4):c.122C>T:p.Pro41Leu	coding	Benign
1	5986372	C	G	C5986372G	NPHP4	NM_015102.5(NPHP4):c.-38-45G>C	noncoding	Benign
1	5992511	G	A	G5992511A	NPHP4	Single_allele	noncoding	Benign
1	5992521	G	A	G5992521A	NPHP4	Single_allele	noncoding	Benign
1	6098502	A	G	A6098502G	KCNAB2	NM_001199862.2(KCNAB2):c.1176A>G:p.Ser392=	coding	Benign
1	6135365	G	A	G6135365A	CHD5	NM_015557.3(CHD5):c.2735C>T:p.Ser912Phe	coding	Pathogenic/Likely_pathogenic
1	6136809	A	G	A6136809G	CHD5	NM_015557.3(CHD5):c.2493T>C:p.Ile831=	coding	Benign
1	6136883	A	G	A6136883G	CHD5	NM_015557.3(CHD5):c.2437-18T>C	noncoding	Benign
1	6218354	A	G	A6218354G	RNF207	NM_207396.3(RNF207):c.1718A>G:p.Asn573Ser	coding	Benign
1	6424615	C	A	C6424615A	ESPN	Single_allele	noncoding	Benign
1	6424625	G	A	G6424625A	ESPN	Single_allele	noncoding	Benign
1	6424729	T	C	T6424729C	ESPN	Single_allele	noncoding	Benign
1	6424818	C	T	C6424818T	ESPN	NM_031475.3(ESPN):c.-138C>T	noncoding	Benign
1	6424820	A	G	A6424820G	ESPN	NM_031475.3(ESPN):c.-136A>G	noncoding	Benign
1	6425245	T	A	T6425245A	ESPN	NM_031475.3(ESPN):c.290T>A:p.Val97Glu	coding	Benign/Likely_benign
1	6428063	G	A	G6428063A	ESPN	NM_031475.3(ESPN):c.295-163G>A	noncoding	Benign
1	6440085	G	T	G6440085T	ESPN	NM_031475.3(ESPN):c.489-169G>T	noncoding	Benign
1	6440487	G	A	G6440487A	ESPN	NM_031475.3(ESPN):c.675+47G>A	noncoding	Benign
1	6440555	G	T	G6440555T	ESPN	NM_031475.3(ESPN):c.676-71G>T	noncoding	Benign
1	6440600	C	A	C6440600A	ESPN	NM_031475.3(ESPN):c.676-26C>A	noncoding	Benign
1	6440611	G	C	G6440611C	ESPN	NM_031475.3(ESPN):c.676-15G>C	noncoding	Benign
1	6440819	G	T	G6440819T	ESPN	NM_031475.3(ESPN):c.858+11G>T	noncoding	Benign
1	6440859	T	C	T6440859C	ESPN	NM_031475.3(ESPN):c.858+51T>C	noncoding	Benign
1	6445735	C	T	C6445735T	ESPN	NM_031475.3(ESPN):c.1264C>T:p.Arg422Trp	coding	Benign
1	6445757	C	T	C6445757T	ESPN	NM_031475.3(ESPN):c.1286C>T:p.Thr429Ile	coding	Benign
1	6445857	A	G	A6445857G	ESPN	NM_031475.3(ESPN):c.1386A>G:p.Val462=	coding	Benign/Likely_benign
1	6445951	C	A	C6445951A	ESPN	NM_031475.3(ESPN):c.1464+16C>A	noncoding	Benign/Likely_benign
1	6445953	C	A	C6445953A	ESPN	NM_031475.3(ESPN):c.1464+18C>A	noncoding	Benign/Likely_benign
1	6449070	C	T	C6449070T	ESPN	NM_031475.3(ESPN):c.1894C>T:p.Arg632Cys	coding	Benign
1	6449111	G	A	G6449111A	ESPN	NM_031475.3(ESPN):c.1915+20G>A	noncoding	Benign
1	6451766	G	A	G6451766A	ESPN	NM_031475.3(ESPN):c.2061+18G>A	noncoding	Benign
1	6456955	T	C	T6456955C	ESPN	NM_031475.3(ESPN):c.2326-229T>C	noncoding	Benign
1	6456963	T	G	T6456963G	ESPN	NM_031475.3(ESPN):c.2326-221T>G	noncoding	Benign
1	6456991	T	C	T6456991C	ESPN	NM_031475.3(ESPN):c.2326-193T>C	noncoding	Benign
1	6457066	A	G	A6457066G	ESPN	NM_031475.3(ESPN):c.2326-118A>G	noncoding	Benign
1	6460152	G	A	G6460152A	ESPN	NM_031475.3(ESPN):c.*6G>A	noncoding	Benign/Likely_benign
1	6460252	C	T	C6460252T	ESPN	NM_031475.3(ESPN):c.*106C>T	noncoding	Benign
1	6468048	G	A	G6468048A	PLEKHG5	NM_020631.6(PLEKHG5):c.2788C>T:p.Arg930Ter	coding	Pathogenic
1	6468567	C	A	C6468567A	PLEKHG5	NM_020631.6(PLEKHG5):c.2269G>T:p.Glu757Ter	coding	Pathogenic
1	6468599	G	A	G6468599A	PLEKHG5	NM_020631.6(PLEKHG5):c.2250-13C>T	noncoding	Benign/Likely_benign
1	6469142	C	A	C6469142A	PLEKHG5	NM_020631.6(PLEKHG5):c.2149G>T:p.Glu717Ter	coding	Pathogenic
1	6469466	C	T	C6469466T	PLEKHG5	NM_020631.6(PLEKHG5):c.1934-16G>A	noncoding	Benign
1	6469747	C	T	C6469747T	PLEKHG5	NM_020631.6(PLEKHG5):c.1801-71G>A	noncoding	Benign
1	6469763	G	C	G6469763C	PLEKHG5	NM_020631.6(PLEKHG5):c.1801-87C>G	noncoding	Benign
1	6470298	C	A	C6470298A	PLEKHG5	NM_020631.6(PLEKHG5):c.1738G>T:p.Glu580Ter	coding	Pathogenic/Likely_pathogenic
1	6470375	A	G	A6470375G	PLEKHG5	NM_020631.6(PLEKHG5):c.1681-20T>C	noncoding	Benign
1	6470707	G	T	G6470707T	PLEKHG5	NM_020631.6(PLEKHG5):c.1542+28C>A	noncoding	Benign
1	6471093	G	T	G6471093T	PLEKHG5	NM_020631.6(PLEKHG5):c.1289C>A:p.Ser430Ter	coding	Pathogenic
1	6471293	G	A	G6471293A	PLEKHG5	NM_020631.6(PLEKHG5):c.1282-193C>T	noncoding	Benign
1	6471639	T	G	T6471639G	PLEKHG5	NM_020631.6(PLEKHG5):c.1132-2A>C	noncoding	Pathogenic
1	6471906	C	T	C6471906T	PLEKHG5	NM_020631.6(PLEKHG5):c.1081-98G>A	noncoding	Benign
1	6472624	T	C	T6472624C	PLEKHG5	NM_020631.6(PLEKHG5):c.985-2A>G	noncoding	Pathogenic/Likely_pathogenic
1	6473061	G	T	G6473061T	PLEKHG5	NM_020631.6(PLEKHG5):c.909C>A:p.Tyr303Ter	coding	Pathogenic
1	6473505	C	T	C6473505T	PLEKHG5	NM_020631.6(PLEKHG5):c.592-51G>A	noncoding	Benign
1	6473944	G	C	G6473944C	PLEKHG5	NM_020631.6(PLEKHG5):c.591+69C>G	noncoding	Benign
1	6474094	C	T	C6474094T	PLEKHG5	NM_020631.6(PLEKHG5):c.510G>A:p.Pro170=	coding	Benign/Likely_benign
1	6474988	A	G	A6474988G	PLEKHG5	NM_020631.6(PLEKHG5):c.302+59T>C	noncoding	Benign
1	6475182	G	A	G6475182A	PLEKHG5	NM_020631.6(PLEKHG5):c.211-44C>T	noncoding	Benign
1	6477509	C	A	C6477509A	PLEKHG5	NM_020631.6(PLEKHG5):c.43+20G>T	noncoding	Benign/Likely_benign
1	6485003	C	A	C6485003A	PLEKHG5	NM_020631.6(PLEKHG5):c.-88+6634G>T	noncoding	Benign
1	6485309	G	A	G6485309A	PLEKHG5	NM_020631.6(PLEKHG5):c.-88+6328C>T	noncoding	Benign/Likely_benign
1	6485449	C	T	C6485449T	PLEKHG5	NM_020631.6(PLEKHG5):c.-88+6188G>A	coding	Benign
1	6485858	G	C	G6485858C	PLEKHG5	NM_020631.6(PLEKHG5):c.-88+5779C>G	coding	Benign
1	6490316	T	C	T6490316C	PLEKHG5	NM_020631.6(PLEKHG5):c.-88+1321A>G	noncoding	Benign
1	6497233	G	A	G6497233A	PLEKHG5	NM_198681.4(PLEKHG5):c.-164-664C>T	noncoding	Benign
1	6497544	C	T	C6497544T	PLEKHG5	NM_198681.4(PLEKHG5):c.-164-975G>A	noncoding	Benign
1	6497563	C	G	C6497563G	PLEKHG5	NM_198681.4(PLEKHG5):c.-164-994G>C	noncoding	Benign
1	6519278	T	C	T6519278C	PLEKHG5	NM_198681.4(PLEKHG5):c.-165+167A>G	noncoding	Benign
1	6519400	C	T	C6519400T	PLEKHG5	NM_198681.4(PLEKHG5):c.-165+45G>A	noncoding	Benign
1	6519593	G	C	G6519593C	PLEKHG5	NM_198681.4(PLEKHG5):c.-313C>G	noncoding	Benign
1	6519783	C	T	C6519783T	PLEKHG5	NM_198681.4(PLEKHG5):c.-503G>A	noncoding	Benign
1	6520176	G	C	G6520176C	PLEKHG5	NM_020631.4(PLEKHG5):c.-28627C>G	noncoding	Benign
1	6520190	C	T	C6520190T	PLEKHG5	NM_020631.4(PLEKHG5):c.-28641G>A	noncoding	Benign
1	6520337	C	T	C6520337T	PLEKHG5	NM_020631.4(PLEKHG5):c.-28788G>A	noncoding	Benign
1	6520369	C	T	C6520369T	PLEKHG5	NM_020631.4(PLEKHG5):c.-28820G>A	noncoding	Benign
1	7249591	G	A	G7249591A	CAMTA1	NM_015215.4(CAMTA1):c.403G>A:p.Glu135Lys	coding	Pathogenic
1	7249592	A	G	A7249592G	CAMTA1	NM_015215.4(CAMTA1):c.404A>G:p.Glu135Gly	coding	Pathogenic
1	7249611	G	C	G7249611C	CAMTA1	NM_015215.4(CAMTA1):c.423G>C:p.Lys141Asn	coding	Pathogenic
1	7467936	T	C	T7467936C	CAMTA1	NM_015215.4(CAMTA1):c.510+35T>C	noncoding	Benign
1	7663897	G	A	G7663897A	CAMTA1	NM_015215.4(CAMTA1):c.1350G>A:p.Ser450=	coding	Benign
1	7664849	T	C	T7664849C	CAMTA1	NM_015215.4(CAMTA1):c.2302T>C:p.Ser768Pro	coding	Benign
1	7677739	A	G	A7677739G	CAMTA1	NM_015215.4(CAMTA1):c.2914+6A>G	noncoding	Benign
1	7732477	C	T	C7732477T	CAMTA1	NM_015215.4(CAMTA1):c.2944C>T:p.Arg982Ter	coding	Pathogenic
1	7736419	C	T	C7736419T	CAMTA1	NM_015215.4(CAMTA1):c.3142C>T:p.Arg1048Ter	coding	Pathogenic
1	7737443	C	G	C7737443G	CAMTA1	NM_015215.4(CAMTA1):c.3531C>G:p.Asn1177Lys	coding	Benign
1	7737674	T	A	T7737674A	CAMTA1	NM_015215.4(CAMTA1):c.3658+104T>A	noncoding	Benign
1	7738363	C	T	C7738363T	CAMTA1	NM_015215.4(CAMTA1):c.4063C>T:p.Pro1355Ser	coding	Benign
1	7747837	A	G	A7747837G	CAMTA1	NM_015215.4(CAMTA1):c.4689+56A>G	noncoding	Benign
1	7751155	A	G	A7751155G	CAMTA1	NM_015215.4(CAMTA1):c.4690-44A>G	noncoding	Benign
1	7751289	C	T	C7751289T	CAMTA1	NM_015215.4(CAMTA1):c.4780C>T:p.Arg1594Ter	coding	Pathogenic
1	7751322	C	T	C7751322T	CAMTA1	NM_015215.4(CAMTA1):c.4813C>T:p.Arg1605Ter	coding	Pathogenic
1	7752338	A	G	A7752338G	CAMTA1	NM_015215.4(CAMTA1):c.4884-121A>G	noncoding	Benign
1	7938189	G	C	G7938189C	TNFRSF9	NM_001561.6(TNFRSF9):c.346+4C>G	noncoding	Benign
1	7938248	T	C	T7938248C	TNFRSF9	NM_001561.6(TNFRSF9):c.291A>G:p.Ala97=	coding	Benign
1	7961680	G	A	G7961680A	PARK7	NM_007262.4(PARK7):c.-137G>A	noncoding	Benign/Likely_benign
1	7961913	G	T	G7961913T	PARK7	NM_007262.5(PARK7):c.-24+120G>T	noncoding	Benign
1	7962111	C	T	C7962111T	PARK7	NM_007262.5(PARK7):c.-24+318C>T	noncoding	Benign
1	7962137	G	T	G7962137T	PARK7	NM_007262.5(PARK7):c.-24+344G>T	noncoding	Benign
1	7962693	T	G	T7962693G	PARK7	NM_007262.5(PARK7):c.-23-70T>G	noncoding	Benign
1	7962867	C	T	C7962867T	PARK7	NM_007262.5(PARK7):c.82C>T:p.Arg28Ter	coding	Pathogenic
1	7965215	C	T	C7965215T	PARK7	NM_007262.5(PARK7):c.91-109C>T	noncoding	Benign
1	7965663	A	C	A7965663C	PARK7	NM_007262.5(PARK7):c.192+238A>C	noncoding	Benign
1	7965756	C	T	C7965756T	PARK7	NM_007262.5(PARK7):c.192+331C>T	noncoding	Benign
1	7969196	A	G	A7969196G	PARK7	NM_007262.5(PARK7):c.193-149A>G	noncoding	Benign
1	7969259	A	G	A7969259G	PARK7	NM_007262.5(PARK7):c.193-86A>G	noncoding	Benign
1	7969422	A	G	A7969422G	PARK7	NM_007262.5(PARK7):c.252+18A>G	noncoding	Benign
1	7969434	T	G	T7969434G	PARK7	NM_007262.5(PARK7):c.252+30T>G	noncoding	Benign
1	7969449	G	A	G7969449A	PARK7	NM_007262.5(PARK7):c.252+45G>A	noncoding	Benign
1	7969450	G	A	G7969450A	PARK7	NM_007262.5(PARK7):c.252+46G>A	noncoding	Benign
1	7970785	A	G	A7970785G	PARK7	NM_007262.5(PARK7):c.253-109A>G	noncoding	Benign
1	7970796	G	A	G7970796A	PARK7	NM_007262.5(PARK7):c.253-98G>A	noncoding	Benign
1	7970863	C	T	C7970863T	PARK7	NM_007262.5(PARK7):c.253-31C>T	noncoding	Benign
1	7970963	G	A	G7970963A	PARK7	NM_007262.5(PARK7):c.322G>A:p.Gly108Ser	coding	Pathogenic
1	7970994	G	A	G7970994A	PARK7	NM_007262.5(PARK7):c.322+31G>A	noncoding	Benign
1	7977436	G	A	G7977436A	PARK7	NM_007262.5(PARK7):c.323-216G>A	noncoding	Benign
1	7977604	A	G	A7977604G	PARK7	NM_007262.5(PARK7):c.323-48A>G	noncoding	Benign
1	7984664	C	T	C7984664T	PARK7	NM_007262.5(PARK7):c.410-230C>T	noncoding	Benign
1	7984733	G	A	G7984733A	PARK7	NM_007262.5(PARK7):c.410-161G>A	noncoding	Benign
1	7984845	T	C	T7984845C	PARK7	NM_007262.5(PARK7):c.410-49T>C	noncoding	Benign
1	8330324	G	C	G8330324C	SLC45A1	NM_001080397.3(SLC45A1):c.831G>C:p.Leu277=	coding	Benign
1	8330435	A	G	A8330435G	SLC45A1	NM_001080397.3(SLC45A1):c.942A>G:p.Pro314=	coding	Benign
1	8335500	G	T	G8335500T	SLC45A1	NM_001080397.3(SLC45A1):c.1507G>T:p.Ala503Ser	coding	Benign
1	8344033	C	T	C8344033T	SLC45A1	NM_001080397.3(SLC45A1):c.*20C>T	noncoding	Benign
1	8355571	C	A	C8355571A	RERE	NM_001042681.2(RERE):c.4515G>T:p.Gly1505=	coding	Benign
1	8356159	G	A	G8356159A	RERE	NM_001042681.2(RERE):c.4427C>T:p.Pro1476Leu	coding	Pathogenic
1	8356173	C	T	C8356173T	RERE	NM_001042681.2(RERE):c.4413G>A:p.Pro1471=	coding	Benign
1	8356236	G	A	G8356236A	RERE	NM_001042681.2(RERE):c.4350C>T:p.Gly1450=	coding	Benign
1	8358230	G	C	G8358230C	RERE	NM_001042681.2(RERE):c.4305C>G:p.His1435Gln	coding	Pathogenic
1	8358238	G	A	G8358238A	RERE	NM_001042681.2(RERE):c.4297C>T:p.His1433Tyr	coding	Pathogenic
1	8358242	G	T	G8358242T	RERE	NM_001042681.2(RERE):c.4293C>A:p.His1431Gln	coding	Pathogenic/Likely_pathogenic
1	8358264	G	A	G8358264A	RERE	NM_001042681.2(RERE):c.4271C>T:p.Pro1424Leu	coding	Pathogenic
1	8358413	C	T	C8358413T	RERE	NM_001042681.2(RERE):c.4122G>A:p.Leu1374=	coding	Benign
1	8358481	C	T	C8358481T	RERE	NM_001042681.2(RERE):c.4054G>A:p.Ala1352Thr	coding	Benign
1	8358584	C	A	C8358584A	RERE	NM_001042681.2(RERE):c.3951G>T:p.Arg1317=	coding	Benign
1	8358590	T	C	T8358590C	RERE	NM_001042681.2(RERE):c.3945A>G:p.Arg1315=	coding	Benign
1	8358599	C	A	C8358599A	RERE	NM_001042681.2(RERE):c.3936G>T:p.Arg1312=	coding	Benign
1	8359782	G	A	G8359782A	RERE	NM_001042681.2(RERE):c.3600C>T:p.Arg1200=	coding	Benign
1	8360503	C	T	C8360503T	RERE	NM_001042681.2(RERE):c.3004G>A:p.Ala1002Thr	coding	Benign
1	8360646	G	A	G8360646A	RERE	NM_001042681.2(RERE):c.2861C>T:p.Pro954Leu	coding	Benign
1	8360906	G	A	G8360906A	RERE	NM_001042681.2(RERE):c.2601C>T:p.Gly867=	coding	Benign
1	8361032	C	T	C8361032T	RERE	NM_001042681.2(RERE):c.2475G>A:p.Pro825=	coding	Benign
1	8361143	T	C	T8361143C	RERE	NM_001042681.2(RERE):c.2364A>G:p.Pro788=	coding	Benign
1	8363879	G	A	G8363879A	RERE	NM_001042681.2(RERE):c.1740+177C>T	noncoding	Benign
1	8364762	G	A	G8364762A	RERE	NM_001042681.2(RERE):c.1524C>T:p.Arg508=	coding	Benign
1	8365840	T	C	T8365840C	RERE	NM_001042681.2(RERE):c.1419A>G:p.Thr473=	coding	Benign
1	8365860	C	T	C8365860T	RERE	NM_001042681.2(RERE):c.1399G>A:p.Ala467Thr	coding	Benign
1	8508607	G	A	G8508607A	RERE	NM_001042681.2(RERE):c.879+20C>T	noncoding	Benign/Likely_benign
1	8556503	C	T	C8556503T	RERE	NM_001042681.2(RERE):c.697G>A:p.Val233Ile	coding	Benign
1	8656243	G	A	G8656243A	RERE	NM_001042681.2(RERE):c.55C>T:p.Arg19Trp	coding	Benign
1	9038171	C	T	C9038171T	SLC2A5	NM_003039.3(SLC2A5):c.1175-147G>A	noncoding	Benign
1	9038213	C	T	C9038213T	SLC2A5	NM_003039.3(SLC2A5):c.1175-189G>A	noncoding	Benign
1	9038272	G	A	G9038272A	SLC2A5	NM_003039.3(SLC2A5):c.1174+159C>T	noncoding	Benign
1	9038683	G	A	G9038683A	SLC2A5	NM_003039.3(SLC2A5):c.1098+145C>T	noncoding	Benign
1	9039668	A	G	A9039668G	SLC2A5	NM_003039.3(SLC2A5):c.886-6T>C	noncoding	Benign
1	9040420	G	A	G9040420A	SLC2A5	NM_003039.3(SLC2A5):c.572-231C>T	noncoding	Benign
1	9047790	G	T	G9047790T	SLC2A5	NM_003039.3(SLC2A5):c.294-56C>A	noncoding	Benign
1	9057312	A	G	A9057312G	SLC2A5	NM_003039.3(SLC2A5):c.293+136T>C	noncoding	Benign
1	9057689	T	C	T9057689C	SLC2A5	NM_003039.3(SLC2A5):c.133-81A>G	noncoding	Benign
1	9057889	C	T	C9057889T	SLC2A5	NM_003039.3(SLC2A5):c.132+263G>A	noncoding	Benign
1	9058537	C	A	C9058537A	SLC2A5	NM_003039.3(SLC2A5):c.34-287G>T	noncoding	Benign
1	9069561	C	T	C9069561T	SLC2A5	NM_003039.3(SLC2A5):c.-25G>A	noncoding	Benign
1	9069808	G	A	G9069808A	SLC2A5	NM_003039.2(SLC2A5):c.-272C>T	noncoding	Benign
1	9069886	A	G	A9069886G	SLC2A5	NM_001328619.2(SLC2A5):c.-58-292T>C	noncoding	Benign
1	9245276	C	T	C9245276T	H6PD	NM_004285.4(H6PD):c.342C>T:p.Ala114=	coding	Benign
1	9245386	A	C	A9245386C	H6PD	NM_004285.4(H6PD):c.452A>C:p.Asp151Ala	coding	Benign
1	9246974	G	A	G9246974A	H6PD	NM_004285.4(H6PD):c.636G>A:p.Ala212=	coding	Benign
1	9247079	T	C	T9247079C	H6PD	NM_004285.4(H6PD):c.741T>C:p.Ala247=	coding	Benign
1	9262096	C	T	C9262096T	H6PD	NM_004285.4(H6PD):c.783C>T:p.Arg261=	coding	Benign
1	9263657	G	A	G9263657A	H6PD	NM_004285.4(H6PD):c.1164G>A:p.Ala388=	coding	Benign
1	9263826	G	A	G9263826A	H6PD	NM_004285.4(H6PD):c.1333G>A:p.Asp445Asn	coding	Benign
1	9263835	G	A	G9263835A	H6PD	NM_004285.4(H6PD):c.1342G>A:p.Ala448Thr	coding	Benign
1	9263851	G	A	G9263851A	H6PD	NM_004285.4(H6PD):c.1358G>A:p.Arg453Gln	coding	Benign
1	9264154	C	T	C9264154T	H6PD	NM_004285.4(H6PD):c.1661C>T:p.Pro554Leu	coding	Benign
1	9264155	G	A	G9264155A	H6PD	NM_004285.4(H6PD):c.1662G>A:p.Pro554=	coding	Benign
1	9264512	T	C	T9264512C	H6PD	NM_004285.4(H6PD):c.2019T>C:p.Tyr673=	coding	Benign
1	9264611	A	G	A9264611G	H6PD	NM_004285.4(H6PD):c.2118A>G:p.Ser706=	coding	Benign
1	9710656	C	G	C9710656G	PIK3CD	NM_005026.5(PIK3CD):c.141+60C>G	noncoding	Benign
1	9715402	G	A	G9715402A	PIK3CD	NM_005026.5(PIK3CD):c.142-139G>A	noncoding	Benign
1	9715529	C	T	C9715529T	PIK3CD	NM_005026.5(PIK3CD):c.142-12C>T	noncoding	Benign
1	9715651	C	T	C9715651T	PIK3CD	NM_005026.5(PIK3CD):c.252C>T:p.Asp84=	coding	Benign
1	9716091	G	A	G9716091A	PIK3CD	NM_005026.5(PIK3CD):c.600+13G>A	noncoding	Benign
1	9716778	G	T	G9716778T	PIK3CD	NM_005026.5(PIK3CD):c.780+159G>T	noncoding	Benign
1	9717027	C	T	C9717027T	PIK3CD	NM_005026.5(PIK3CD):c.849C>T:p.Leu283=	coding	Benign
1	9718674	C	G	C9718674G	PIK3CD	NM_005026.5(PIK3CD):c.1021-20C>G	noncoding	Benign
1	9718720	C	T	C9718720T	PIK3CD	NM_005026.5(PIK3CD):c.1047C>T:p.His349=	coding	Benign
1	9719230	A	T	A9719230T	PIK3CD	NM_005026.5(PIK3CD):c.1242+315A>T	noncoding	Benign
1	9719813	T	C	T9719813C	PIK3CD	NM_005026.5(PIK3CD):c.1243-108T>C	noncoding	Benign
1	9720255	C	T	C9720255T	PIK3CD	NM_005026.5(PIK3CD):c.1470+13C>T	noncoding	Benign
1	9720258	G	A	G9720258A	PIK3CD	NM_005026.5(PIK3CD):c.1470+16G>A	noncoding	Benign
1	9720367	G	A	G9720367A	PIK3CD	NM_005026.5(PIK3CD):c.1470+125G>A	noncoding	Benign
1	9720723	T	C	T9720723C	PIK3CD	NM_005026.5(PIK3CD):c.1522-19T>C	noncoding	Benign
1	9720790	T	A	T9720790A	PIK3CD	NM_005026.5(PIK3CD):c.1570T>A:p.Tyr524Asn	coding	Pathogenic
1	9720791	A	C	A9720791C	PIK3CD	NM_005026.5(PIK3CD):c.1571A>C:p.Tyr524Ser	coding	Pathogenic
1	9720855	G	A	G9720855A	PIK3CD	NM_005026.5(PIK3CD):c.1635G>A:p.Ala545=	coding	Benign
1	9721354	C	G	C9721354G	PIK3CD	NM_005026.5(PIK3CD):c.1812-90C>G	noncoding	Benign
1	9721427	G	A	G9721427A	PIK3CD	NM_005026.5(PIK3CD):c.1812-17G>A	noncoding	Benign
1	9722080	C	T	C9722080T	PIK3CD	NM_005026.5(PIK3CD):c.2161C>T:p.Gln721Ter	coding	Pathogenic
1	9722498	C	T	C9722498T	PIK3CD	NM_005026.5(PIK3CD):c.2348-30C>T	noncoding	Benign
1	9722708	C	T	C9722708T	PIK3CD	NM_005026.5(PIK3CD):c.2426+102C>T	noncoding	Benign
1	9724785	C	T	C9724785T	PIK3CD	NM_005026.5(PIK3CD):c.2865-19C>T	noncoding	Benign
1	9726787	G	C	G9726787C	PIK3CD	NM_005026.5(PIK3CD):c.2998-122G>C	noncoding	Benign
1	9726891	G	A	G9726891A	PIK3CD	NM_005026.5(PIK3CD):c.2998-18G>A	noncoding	Benign
1	9726894	G	A	G9726894A	PIK3CD	NM_005026.5(PIK3CD):c.2998-15G>A	noncoding	Benign
1	9726901	G	T	G9726901T	PIK3CD	NM_005026.5(PIK3CD):c.2998-8G>T	noncoding	Benign
1	9727025	G	A	G9727025A	PIK3CD	NM_005026.5(PIK3CD):c.3114G>A:p.Val1038=	coding	Benign
1	9975590	A	G	A9975590G	NMNAT1	NM_022787.4(NMNAT1):c.116-2A>G	noncoding	Pathogenic
1	9975672	C	T	C9975672T	NMNAT1	NM_022787.4(NMNAT1):c.196C>T:p.Arg66Trp	coding	Pathogenic
1	9975721	T	C	T9975721C	NMNAT1	NM_022787.4(NMNAT1):c.245T>C:p.Val82Ala	coding	Pathogenic
1	9975731	G	A	G9975731A	NMNAT1	NM_022787.4(NMNAT1):c.255G>A:p.Trp85Ter	coding	Pathogenic
1	9975747	G	A	G9975747A	NMNAT1	NM_022787.4(NMNAT1):c.271G>A:p.Glu91Lys	coding	Pathogenic/Likely_pathogenic
1	9981175	G	T	G9981175T	NMNAT1	NM_022787.4(NMNAT1):c.439+5G>T	noncoding	Pathogenic
1	9982285	G	T	G9982285T	NMNAT1	NM_022787.4(NMNAT1):c.440-16G>T	noncoding	Benign
1	9982361	A	G	A9982361G	NMNAT1	NM_022787.4(NMNAT1):c.500A>G:p.Asn167Ser	coding	Pathogenic
1	10232630	C	G	C10232630G	KIF1B	NM_001365951.3(KIF1B):c.106+196C>G	noncoding	Benign
1	10256569	C	G	C10256569G	KIF1B	NM_001365951.3(KIF1B):c.183+246C>G	noncoding	Benign
1	10258474	C	T	C10258474T	KIF1B	NM_001365951.3(KIF1B):c.184-19C>T	noncoding	Benign
1	10261842	C	T	C10261842T	KIF1B	NM_001365951.3(KIF1B):c.364-63C>T	noncoding	Benign
1	10261983	G	A	G10261983A	KIF1B	NM_001365951.3(KIF1B):c.429+13G>A	noncoding	Benign
1	10261996	G	A	G10261996A	KIF1B	NM_001365951.3(KIF1B):c.429+26G>A	noncoding	Benign
1	10262095	A	G	A10262095G	KIF1B	NM_001365951.3(KIF1B):c.429+125A>G	noncoding	Benign
1	10267308	G	C	G10267308C	KIF1B	NM_001365951.3(KIF1B):c.430-72G>C	noncoding	Benign
1	10267349	A	T	A10267349T	KIF1B	NM_001365951.3(KIF1B):c.430-31A>T	noncoding	Benign
1	10267809	A	G	A10267809G	KIF1B	NM_001365951.3(KIF1B):c.608+251A>G	noncoding	Benign
1	10268197	C	T	C10268197T	KIF1B	NM_001365951.3(KIF1B):c.654C>T:p.His218=	coding	Benign/Likely_benign
1	10268233	C	T	C10268233T	KIF1B	NM_001365951.3(KIF1B):c.690C>T:p.His230=	coding	Benign/Likely_benign
1	10271392	T	G	T10271392G	KIF1B	NM_001365951.3(KIF1B):c.721-110T>G	noncoding	Benign
1	10272023	A	G	A10272023G	KIF1B	NM_001365951.3(KIF1B):c.799-218A>G	noncoding	Benign
1	10272044	C	T	C10272044T	KIF1B	NM_001365951.3(KIF1B):c.799-197C>T	noncoding	Benign
1	10275251	T	C	T10275251C	KIF1B	NM_001365951.3(KIF1B):c.883-177T>C	noncoding	Benign
1	10275257	G	A	G10275257A	KIF1B	NM_001365951.3(KIF1B):c.883-171G>A	noncoding	Benign
1	10276304	A	G	A10276304G	KIF1B	NM_001365951.3(KIF1B):c.959-17A>G	noncoding	Benign
1	10278147	G	A	G10278147A	KIF1B	NM_001365951.3(KIF1B):c.1180+19G>A	noncoding	Benign/Likely_benign
1	10282111	T	C	T10282111C	KIF1B	NM_001365951.3(KIF1B):c.1223-211T>C	noncoding	Benign
1	10282571	G	A	G10282571A	KIF1B	NM_001365951.3(KIF1B):c.1434+38G>A	noncoding	Benign
1	10291067	C	T	C10291067T	KIF1B	NM_001365951.3(KIF1B):c.1435-15C>T	noncoding	Benign/Likely_benign
1	10291393	A	G	A10291393G	KIF1B	NM_001365951.3(KIF1B):c.1514+232A>G	noncoding	Benign
1	10291831	T	G	T10291831G	KIF1B	NM_001365951.3(KIF1B):c.1515-216T>G	noncoding	Benign
1	10292371	T	C	T10292371C	KIF1B	NM_001365951.3(KIF1B):c.1590+249T>C	noncoding	Benign
1	10295913	T	C	T10295913C	KIF1B	NM_001365951.3(KIF1B):c.1777+147T>C	noncoding	Benign
1	10296504	C	A	C10296504A	KIF1B	NM_001365951.3(KIF1B):c.1778-78C>A	noncoding	Benign
1	10296790	A	G	A10296790G	KIF1B	NM_001365951.3(KIF1B):c.1862-107A>G	noncoding	Benign
1	10297170	C	T	C10297170T	KIF1B	NM_001365951.3(KIF1B):c.2043-4C>T	noncoding	Benign/Likely_benign
1	10297348	A	G	A10297348G	KIF1B	NM_001365951.3(KIF1B):c.2115+102A>G	noncoding	Benign
1	10303429	T	C	T10303429C	KIF1B	NM_001365951.3(KIF1B):c.2115+6183T>C	coding	Benign
1	10303453	G	A	G10303453A	KIF1B	NM_001365951.3(KIF1B):c.2115+6207G>A	coding	Benign
1	10320123	A	G	A10320123G	KIF1B	NM_001365951.3(KIF1B):c.2196A>G:p.Glu732=	coding	Benign/Likely_benign
1	10321448	A	T	A10321448T	KIF1B	NM_001365951.3(KIF1B):c.2210-261A>T	noncoding	Benign
1	10323922	C	T	C10323922T	KIF1B	NM_001365951.3(KIF1B):c.2397C>T:p.Tyr799=	coding	Benign/Likely_benign
1	10326126	C	T	C10326126T	KIF1B	NM_001365951.3(KIF1B):c.2691C>T:p.His897=	coding	Benign/Likely_benign
1	10326138	C	T	C10326138T	KIF1B	NM_001365951.3(KIF1B):c.2703C>T:p.Asn901=	coding	Benign/Likely_benign
1	10326150	C	T	C10326150T	KIF1B	NM_001365951.3(KIF1B):c.2715C>T:p.Ala905=	coding	Benign/Likely_benign
1	10326448	T	C	T10326448C	KIF1B	NM_001365951.3(KIF1B):c.2924+89T>C	noncoding	Benign
1	10326492	A	G	A10326492G	KIF1B	NM_001365951.3(KIF1B):c.2924+133A>G	noncoding	Benign
1	10326584	T	C	T10326584C	KIF1B	NM_001365951.3(KIF1B):c.2924+225T>C	noncoding	Benign
1	10334258	C	T	C10334258T	KIF1B	NM_001365951.3(KIF1B):c.2925-262C>T	noncoding	Benign
1	10334478	C	G	C10334478G	KIF1B	NM_001365951.3(KIF1B):c.2925-42C>G	noncoding	Benign
1	10337841	C	T	C10337841T	KIF1B	NM_001365951.3(KIF1B):c.3422+308C>T	noncoding	Benign
1	10339886	A	C	A10339886C	KIF1B	NM_001365951.3(KIF1B):c.3513+27A>C	noncoding	Benign
1	10339897	T	C	T10339897C	KIF1B	NM_001365951.3(KIF1B):c.3513+38T>C	noncoding	Benign
1	10343235	G	A	G10343235A	KIF1B	NM_001365951.3(KIF1B):c.3636G>A:p.Pro1212=	coding	Benign/Likely_benign
1	10343424	G	A	G10343424A	KIF1B	NM_001365951.3(KIF1B):c.3688+137G>A	noncoding	Benign
1	10346149	C	G	C10346149G	KIF1B	NM_001365951.3(KIF1B):c.3797+196C>G	noncoding	Benign
1	10352578	A	T	A10352578T	KIF1B	NM_001365951.3(KIF1B):c.3950-53A>T	noncoding	Benign
1	10353065	G	A	G10353065A	KIF1B	NM_001365951.3(KIF1B):c.4055+329G>A	noncoding	Benign
1	10360860	G	A	G10360860A	KIF1B	NM_001365951.3(KIF1B):c.4056-69G>A	noncoding	Benign
1	10360879	C	T	C10360879T	KIF1B	NM_001365951.3(KIF1B):c.4056-50C>T	noncoding	Benign
1	10361987	A	G	A10361987G	KIF1B	NM_001365951.3(KIF1B):c.4304+162A>G	noncoding	Benign
1	10363261	T	C	T10363261C	KIF1B	NM_001365951.3(KIF1B):c.4305-22T>C	noncoding	Benign
1	10363316	A	G	A10363316G	KIF1B	NM_001365951.3(KIF1B):c.4338A>G:p.Leu1446=	coding	Benign/Likely_benign
1	10363334	A	G	A10363334G	KIF1B	NM_001365951.3(KIF1B):c.4356A>G:p.Thr1452=	coding	Benign/Likely_benign
1	10365808	C	T	C10365808T	KIF1B	NM_001365951.3(KIF1B):c.4752+160C>T	noncoding	Benign
1	10368517	C	T	C10368517T	KIF1B	NM_001365951.3(KIF1B):c.4803C>T:p.His1601=	coding	Benign/Likely_benign
1	10368553	T	G	T10368553G	KIF1B	NM_001365951.3(KIF1B):c.4824+15T>G	noncoding	Benign
1	10371074	C	T	C10371074T	KIF1B	NM_001365951.3(KIF1B):c.4825-67C>T	noncoding	Benign
1	10371100	T	C	T10371100C	KIF1B	NM_001365951.3(KIF1B):c.4825-41T>C	noncoding	Benign
1	10374224	T	C	T10374224C	KIF1B	NM_001365951.3(KIF1B):c.4947-92T>C	noncoding	Benign
1	10374245	A	G	A10374245G	KIF1B	NM_001365951.3(KIF1B):c.4947-71A>G	noncoding	Benign
1	10374336	G	A	G10374336A	KIF1B	NM_001365951.3(KIF1B):c.4967G>A:p.Arg1656Gln	coding	Benign/Likely_benign
1	10374346	T	C	T10374346C	KIF1B	NM_001365951.3(KIF1B):c.4977T>C:p.Ser1659=	coding	Benign/Likely_benign
1	10376376	C	T	C10376376T	KIF1B	NM_001365951.3(KIF1B):c.5409-169C>T	noncoding	Benign
1	10376459	G	T	G10376459T	KIF1B	NM_001365951.3(KIF1B):c.5409-86G>T	noncoding	Benign
1	10376578	G	A	G10376578A	KIF1B	NM_001365951.3(KIF1B):c.5442G>A:p.Ser1814=	coding	Benign/Likely_benign
1	10474698	C	A	C10474698A	PEX14	Single_allele	noncoding	Benign
1	10474780	C	G	C10474780G	PEX14	Single_allele	noncoding	Benign
1	10495200	C	T	C10495200T	PEX14	NM_004565.3(PEX14):c.37-74C>T	noncoding	Benign
1	10495338	T	C	T10495338C	PEX14	NM_004565.3(PEX14):c.84+17T>C	noncoding	Benign
1	10503552	A	G	A10503552G	PEX14	NM_004565.3(PEX14):c.84+8231A>G	noncoding	Benign
1	10506158	A	G	A10506158G	PEX14	NM_004565.3(PEX14):c.84+10837A>G	noncoding	Benign
1	10535965	C	T	C10535965T	PEX14	NM_004565.3(PEX14):c.85-248C>T	noncoding	Benign
1	10536331	A	G	A10536331G	PEX14	NM_004565.3(PEX14):c.169+34A>G	noncoding	Benign
1	10536473	A	G	A10536473G	PEX14	NM_004565.3(PEX14):c.169+176A>G	noncoding	Benign
1	10536565	G	A	G10536565A	PEX14	NM_004565.3(PEX14):c.169+268G>A	noncoding	Benign
1	10536567	C	T	C10536567T	PEX14	NM_004565.3(PEX14):c.169+270C>T	noncoding	Benign
1	10618316	C	T	C10618316T	PEX14	NM_004565.3(PEX14):c.299-16C>T	noncoding	Benign
1	10618434	G	A	G10618434A	PEX14	NM_004565.3(PEX14):c.384+17G>A	noncoding	Benign
1	10618553	G	A	G10618553A	PEX14	NM_004565.3(PEX14):c.384+136G>A	noncoding	Benign
1	10618598	T	C	T10618598C	PEX14	NM_004565.3(PEX14):c.384+181T>C	noncoding	Benign
1	10618674	C	T	C10618674T	PEX14	NM_004565.3(PEX14):c.384+257C>T	noncoding	Benign
1	10622800	C	T	C10622800T	PEX14	NM_004565.3(PEX14):c.385-219C>T	noncoding	Benign
1	10623185	C	T	C10623185T	PEX14	NM_004565.3(PEX14):c.487+64C>T	noncoding	Benign
1	10627119	C	T	C10627119T	PEX14	NM_004565.3(PEX14):c.586-153C>T	noncoding	Benign
1	10639009	G	C	G10639009C	CASZ1	NM_001079843.3(CASZ1):c.5213C>G:p.Pro1738Arg	coding	Benign
1	10639344	C	A	C10639344A	CASZ1	NM_001079843.3(CASZ1):c.4878G>T:p.Pro1626=	coding	Benign
1	10639683	C	A	C10639683A	CASZ1	NM_001079843.3(CASZ1):c.4539G>T:p.Thr1513=	coding	Benign
1	10639987	A	C	A10639987C	CASZ1	NM_001079843.3(CASZ1):c.4235T>G:p.Phe1412Cys	coding	Benign
1	10642655	C	T	C10642655T	CASZ1	NM_001079843.3(CASZ1):c.4162+204G>A	noncoding	Benign
1	10642757	G	A	G10642757A	CASZ1	NM_001079843.3(CASZ1):c.4162+102C>T	noncoding	Benign
1	10643026	G	C	G10643026C	CASZ1	NM_001079843.3(CASZ1):c.4021-26C>G	noncoding	Benign
1	10644831	G	C	G10644831C	CASZ1	NM_001079843.3(CASZ1):c.3868+86C>G	noncoding	Benign
1	10645053	G	A	G10645053A	CASZ1	NM_001079843.3(CASZ1):c.3732C>T:p.Cys1244=	coding	Benign
1	10646034	G	A	G10646034A	CASZ1	NM_001079843.3(CASZ1):c.3696+94C>T	noncoding	Benign
1	10646034	G	C	G10646034C	CASZ1	NM_001079843.3(CASZ1):c.3696+94C>G	noncoding	Benign
1	10646110	G	A	G10646110A	CASZ1	NM_001079843.3(CASZ1):c.3696+18C>T	noncoding	Benign
1	10646326	G	A	G10646326A	CASZ1	NM_001079843.3(CASZ1):c.3498C>T:p.Asn1166=	coding	Benign
1	10647971	G	A	G10647971A	CASZ1	NM_001079843.3(CASZ1):c.3327C>T:p.Ser1109=	coding	Benign
1	10648085	A	G	A10648085G	CASZ1	NM_001079843.3(CASZ1):c.3213T>C:p.Phe1071=	coding	Benign
1	10649075	G	A	G10649075A	CASZ1	NM_001079843.3(CASZ1):c.3153C>T:p.His1051=	coding	Benign
1	10649210	C	T	C10649210T	CASZ1	NM_001079843.3(CASZ1):c.3036-18G>A	noncoding	Benign
1	10649252	C	G	C10649252G	CASZ1	NM_001079843.3(CASZ1):c.3035+31G>C	noncoding	Benign
1	10649384	C	T	C10649384T	CASZ1	NM_001079843.3(CASZ1):c.2934G>A:p.Ala978=	coding	Benign
1	10649412	C	T	C10649412T	CASZ1	NM_001079843.3(CASZ1):c.2906G>A:p.Gly969Asp	coding	Benign
1	10649456	G	A	G10649456A	CASZ1	NM_001079843.3(CASZ1):c.2881-19C>T	noncoding	Benign
1	10650933	C	T	C10650933T	CASZ1	NM_001079843.3(CASZ1):c.2816+8G>A	noncoding	Benign
1	10651221	C	T	C10651221T	CASZ1	NM_001079843.3(CASZ1):c.2681-145G>A	noncoding	Benign
1	10653480	G	A	G10653480A	CASZ1	NM_001079843.3(CASZ1):c.2577C>T:p.Pro859=	coding	Benign
1	10653708	T	C	T10653708C	CASZ1	NM_001079843.3(CASZ1):c.2349A>G:p.Ser783=	coding	Benign
1	10653798	G	A	G10653798A	CASZ1	NM_001079843.3(CASZ1):c.2259C>T:p.Ala753=	coding	Benign
1	10654237	G	C	G10654237C	CASZ1	NM_001079843.3(CASZ1):c.1839-19C>G	noncoding	Benign
1	10654345	C	T	C10654345T	CASZ1	NM_001079843.3(CASZ1):c.1838+74G>A	noncoding	Benign
1	10654379	C	T	C10654379T	CASZ1	NM_001079843.3(CASZ1):c.1838+40G>A	noncoding	Benign
1	10658341	C	T	C10658341T	CASZ1	NM_001079843.3(CASZ1):c.1409+167G>A	noncoding	Benign
1	10659492	G	A	G10659492A	CASZ1	NM_001079843.3(CASZ1):c.1340+210C>T	noncoding	Benign
1	10659509	T	C	T10659509C	CASZ1	NM_001079843.3(CASZ1):c.1340+193A>G	noncoding	Benign
1	10659588	A	G	A10659588G	CASZ1	NM_001079843.3(CASZ1):c.1340+114T>C	noncoding	Benign
1	10659592	G	C	G10659592C	CASZ1	NM_001079843.3(CASZ1):c.1340+110C>G	noncoding	Benign
1	10659694	C	T	C10659694T	CASZ1	NM_001079843.3(CASZ1):c.1340+8G>A	noncoding	Benign
1	10659848	T	A	T10659848A	CASZ1	NM_001079843.3(CASZ1):c.1194A>T:p.Ala398=	coding	Benign
1	10660544	G	A	G10660544A	CASZ1	NM_001079843.3(CASZ1):c.506-8C>T	noncoding	Benign
1	10665136	G	A	G10665136A	CASZ1	NM_001079843.3(CASZ1):c.452C>T:p.Ser151Leu	coding	Benign
1	10665309	G	A	G10665309A	CASZ1	NM_001079843.3(CASZ1):c.279C>T:p.Asn93=	coding	Benign
1	10665330	T	C	T10665330C	CASZ1	NM_001079843.3(CASZ1):c.258A>G:p.Ala86=	coding	Benign
1	10665441	G	A	G10665441A	CASZ1	NM_001079843.3(CASZ1):c.147C>T:p.Asp49=	coding	Benign
1	10693999	T	C	T10693999C	CASZ1	NM_001079843.3(CASZ1):c.-23-87A>G	noncoding	Benign
1	10765520	C	T	C10765520T	CASZ1	NM_001079843.3(CASZ1):c.-233-4663G>A	noncoding	Benign
1	11012838	C	T	C11012838T	TARDBP	NM_007375.4(TARDBP):c.-13+95C>T	noncoding	Benign
1	11014193	A	G	A11014193G	TARDBP	NM_007375.4(TARDBP):c.238+228A>G	noncoding	Benign
1	11018668	A	G	A11018668G	TARDBP	NM_007375.4(TARDBP):c.403-65A>G	noncoding	Benign
1	11018836	A	G	A11018836G	TARDBP	NM_007375.4(TARDBP):c.506A>G:p.Asp169Gly	coding	Pathogenic
1	11019020	A	G	A11019020G	TARDBP	NM_007375.4(TARDBP):c.543+147A>G	noncoding	Benign
1	11020412	C	T	C11020412T	TARDBP	NM_007375.4(TARDBP):c.544-17C>T	noncoding	Benign
1	11022553	G	A	G11022553A	TARDBP	NM_007375.4(TARDBP):c.1144G>A:p.Ala382Thr	coding	Pathogenic/Likely_pathogenic
1	11022577	A	G	A11022577G	TARDBP	NM_007375.4(TARDBP):c.1168A>G:p.Asn390Asp	coding	Pathogenic
1	11106656	T	C	T11106656C	MTOR	NM_004958.4(MTOR):c.*829A>G	noncoding	Benign
1	11107484	G	C	G11107484C	MTOR	NM_004958.4(MTOR):c.*1C>G	noncoding	Benign
1	11107503	A	G	A11107503G	MTOR	NM_004958.4(MTOR):c.7635-3T>C	noncoding	Benign
1	11107541	G	C	G11107541C	MTOR	NM_004958.4(MTOR):c.7635-41C>G	noncoding	Benign
1	11107703	C	T	C11107703T	MTOR	NM_004958.4(MTOR):c.7635-203G>A	noncoding	Benign
1	11107772	C	T	C11107772T	MTOR	NM_004958.4(MTOR):c.7635-272G>A	noncoding	Benign
1	11107853	C	T	C11107853T	MTOR	NM_004958.4(MTOR):c.7634+328G>A	noncoding	Benign
1	11107991	T	A	T11107991A	MTOR	NM_004958.4(MTOR):c.7634+190A>T	noncoding	Benign
1	11108275	A	C	A11108275C	MTOR	NM_004958.4(MTOR):c.7540T>G:p.Ser2514Ala	coding	Benign
1	11108328	A	C	A11108328C	MTOR	NM_004958.4(MTOR):c.7529-42T>G	noncoding	Benign
1	11109322	T	C	T11109322C	MTOR	NM_004958.4(MTOR):c.7496A>G:p.Gln2499Arg	coding	Benign
1	11109619	C	T	C11109619T	MTOR	NM_004958.4(MTOR):c.7447+30G>A	noncoding	Benign
1	11109695	G	C	G11109695C	MTOR	NM_004958.4(MTOR):c.7401C>G:p.Ala2467=	coding	Benign/Likely_benign
1	11109769	C	A	C11109769A	MTOR	NM_004958.4(MTOR):c.7367-40G>T	noncoding	Benign
1	11110010	A	T	A11110010T	MTOR	NM_004958.4(MTOR):c.7367-281T>A	noncoding	Benign
1	11112904	G	A	G11112904A	MTOR	NM_004958.4(MTOR):c.7314C>T:p.Gly2438=	coding	Benign
1	11113112	A	G	A11113112G	MTOR	NM_004958.4(MTOR):c.7301-195T>C	noncoding	Benign
1	11114459	A	T	A11114459T	MTOR	NM_004958.4(MTOR):c.7165-6T>A	noncoding	Benign
1	11114781	T	C	T11114781C	MTOR	NM_004958.4(MTOR):c.7164+32A>G	noncoding	Benign
1	11114793	C	T	C11114793T	MTOR	NM_004958.4(MTOR):c.7164+20G>A	noncoding	Benign
1	11114794	G	A	G11114794A	MTOR	NM_004958.4(MTOR):c.7164+19C>T	noncoding	Benign
1	11114802	T	C	T11114802C	MTOR	NM_004958.4(MTOR):c.7164+11A>G	noncoding	Benign/Likely_benign
1	11115213	G	T	G11115213T	MTOR	NM_004958.4(MTOR):c.7089+183C>A	noncoding	Benign
1	11115347	A	G	A11115347G	MTOR	NM_004958.4(MTOR):c.7089+49T>C	noncoding	Benign
1	11115380	T	C	T11115380C	MTOR	NM_004958.4(MTOR):c.7089+16A>G	noncoding	Benign
1	11115485	A	C	A11115485C	MTOR	NM_004958.4(MTOR):c.7017-17T>G	noncoding	Benign
1	11115515	G	A	G11115515A	MTOR	NM_004958.4(MTOR):c.7017-47C>T	noncoding	Benign
1	11117039	C	T	C11117039T	MTOR	NM_004958.4(MTOR):c.6981G>A:p.Met2327Ile	coding	Pathogenic
1	11117130	A	G	A11117130G	MTOR	NM_004958.4(MTOR):c.6934-44T>C	noncoding	Benign
1	11121360	C	T	C11121360T	MTOR	NM_004958.4(MTOR):c.6819G>A:p.Pro2273=	coding	Benign/Likely_benign
1	11121400	G	T	G11121400T	MTOR	NM_004958.4(MTOR):c.6811-32C>A	noncoding	Benign
1	11121573	G	A	G11121573A	MTOR	NM_004958.4(MTOR):c.6811-205C>T	noncoding	Benign
1	11121790	C	T	C11121790T	MTOR	NM_004958.4(MTOR):c.6810+189G>A	noncoding	Benign
1	11121930	G	T	G11121930T	MTOR	NM_004958.4(MTOR):c.6810+49C>A	noncoding	Benign
1	11121967	C	T	C11121967T	MTOR	NM_004958.4(MTOR):c.6810+12G>A	noncoding	Benign
1	11122047	C	T	C11122047T	MTOR	NM_004958.4(MTOR):c.6742G>A:p.Ala2248Thr	coding	Benign
1	11122135	C	G	C11122135G	MTOR	NM_004958.4(MTOR):c.6663-9G>C	noncoding	Benign
1	11122172	T	C	T11122172C	MTOR	NM_004958.4(MTOR):c.6663-46A>G	noncoding	Benign
1	11122204	G	A	G11122204A	MTOR	NM_004958.4(MTOR):c.6663-78C>T	noncoding	Benign
1	11124432	C	T	C11124432T	MTOR	NM_004958.4(MTOR):c.6662+66G>A	noncoding	Benign
1	11124467	A	C	A11124467C	MTOR	NM_004958.4(MTOR):c.6662+31T>G	noncoding	Benign
1	11124575	A	G	A11124575G	MTOR	NM_004958.4(MTOR):c.6585T>C:p.Asp2195=	coding	Benign/Likely_benign
1	11126840	A	G	A11126840G	MTOR	NM_004958.4(MTOR):c.6352-44T>C	noncoding	Benign
1	11126972	A	G	A11126972G	MTOR	NM_004958.4(MTOR):c.6351+38T>C	noncoding	Benign
1	11126988	G	A	G11126988A	MTOR	NM_004958.4(MTOR):c.6351+22C>T	noncoding	Benign
1	11127329	A	G	A11127329G	MTOR	NM_004958.4(MTOR):c.6217-185T>C	noncoding	Benign
1	11127573	T	C	T11127573C	MTOR	NM_004958.4(MTOR):c.6216+51A>G	noncoding	Benign
1	11127815	A	C	A11127815C	MTOR	NM_004958.4(MTOR):c.6034-9T>G	noncoding	Benign
1	11127836	T	C	T11127836C	MTOR	NM_004958.4(MTOR):c.6034-30A>G	noncoding	Benign
1	11127955	C	T	C11127955T	MTOR	NM_004958.4(MTOR):c.6033+49G>A	noncoding	Benign
1	11128009	T	C	T11128009C	MTOR	NM_004958.4(MTOR):c.6028A>G:p.Met2010Val	coding	Benign
1	11128018	G	C	G11128018C	MTOR	NM_004958.4(MTOR):c.6019C>G:p.Gln2007Glu	coding	Benign
1	11128033	T	C	T11128033C	MTOR	NM_004958.4(MTOR):c.6004A>G:p.Ser2002Gly	coding	Benign
1	11128158	G	A	G11128158A	MTOR	NM_004958.4(MTOR):c.5911-32C>T	noncoding	Benign
1	11128569	C	T	C11128569T	MTOR	NM_004958.4(MTOR):c.5812-17G>A	noncoding	Benign
1	11128571	C	T	C11128571T	MTOR	NM_004958.4(MTOR):c.5812-19G>A	noncoding	Benign
1	11128825	C	A	C11128825A	MTOR	NM_004958.4(MTOR):c.5811+30G>T	noncoding	Benign
1	11128842	C	T	C11128842T	MTOR	NM_004958.4(MTOR):c.5811+13G>A	noncoding	Benign
1	11129020	T	C	T11129020C	MTOR	NM_004958.4(MTOR):c.5715-69A>G	noncoding	Benign
1	11129134	G	A	G11129134A	MTOR	NM_004958.4(MTOR):c.5715-183C>T	noncoding	Benign
1	11129854	C	T	C11129854T	MTOR	NM_004958.4(MTOR):c.5614-16G>A	noncoding	Benign/Likely_benign
1	11130124	G	A	G11130124A	MTOR	NM_004958.4(MTOR):c.5614-286C>T	noncoding	Benign
1	11130489	C	A	C11130489A	MTOR	NM_004958.4(MTOR):c.5613+40G>T	noncoding	Benign
1	11130561	T	A	T11130561A	MTOR	NM_004958.4(MTOR):c.5581A>T:p.Thr1861Ser	coding	Benign
1	11130621	T	G	T11130621G	MTOR	NM_004958.4(MTOR):c.5521A>C:p.Thr1841Pro	coding	Benign
1	11130636	C	T	C11130636T	MTOR	NM_004958.4(MTOR):c.5506G>A:p.Ala1836Thr	coding	Benign
1	11130686	T	C	T11130686C	MTOR	NM_004958.4(MTOR):c.5456A>G:p.His1819Arg	coding	Benign
1	11130697	C	G	C11130697G	MTOR	NM_004958.4(MTOR):c.5445G>C:p.Lys1815Asn	coding	Benign
1	11130708	C	T	C11130708T	MTOR	NM_004958.4(MTOR):c.5434G>A:p.Asp1812Asn	coding	Benign
1	11132899	A	G	A11132899G	MTOR	NM_004958.4(MTOR):c.5364+181T>C	noncoding	Benign
1	11133154	T	C	T11133154C	MTOR	NM_004958.4(MTOR):c.5290A>G:p.Ile1764Val	coding	Benign
1	11133170	C	T	C11133170T	MTOR	NM_004958.4(MTOR):c.5274G>A:p.Gln1758=	coding	Benign
1	11133344	A	C	A11133344C	MTOR	NM_004958.4(MTOR):c.5247-147T>G	noncoding	Benign
1	11133349	C	T	C11133349T	MTOR	NM_004958.4(MTOR):c.5247-152G>A	noncoding	Benign
1	11133351	C	T	C11133351T	MTOR	NM_004958.4(MTOR):c.5247-154G>A	noncoding	Benign
1	11134333	G	C	G11134333C	MTOR	NM_004958.4(MTOR):c.5246+18C>G	noncoding	Benign
1	11134334	G	C	G11134334C	MTOR	NM_004958.4(MTOR):c.5246+17C>G	noncoding	Benign
1	11134353	G	T	G11134353T	MTOR	NM_004958.4(MTOR):c.5244C>A:p.Ala1748=	coding	Benign/Likely_benign
1	11134410	C	A	C11134410A	MTOR	NM_004958.4(MTOR):c.5187G>T:p.Gln1729His	coding	Benign/Likely_benign
1	11134463	C	T	C11134463T	MTOR	NM_004958.4(MTOR):c.5134G>A:p.Asp1712Asn	coding	Benign
1	11134534	G	A	G11134534A	MTOR	NM_004958.4(MTOR):c.5131-68C>T	noncoding	Benign
1	11134769	G	A	G11134769A	MTOR	NM_004958.4(MTOR):c.5131-303C>T	noncoding	Benign
1	11134779	A	G	A11134779G	MTOR	NM_004958.4(MTOR):c.5131-313T>C	noncoding	Benign
1	11139092	T	C	T11139092C	MTOR	NM_004958.4(MTOR):c.5130+212A>G	noncoding	Benign
1	11139291	T	C	T11139291C	MTOR	NM_004958.4(MTOR):c.5130+13A>G	noncoding	Benign
1	11139333	T	C	T11139333C	MTOR	NM_004958.4(MTOR):c.5101A>G:p.Met1701Val	coding	Benign
1	11139356	T	C	T11139356C	MTOR	NM_004958.4(MTOR):c.5078A>G:p.His1693Arg	coding	Benign
1	11139374	T	C	T11139374C	MTOR	NM_004958.4(MTOR):c.5060A>G:p.His1687Arg	coding	Benign
1	11139461	T	C	T11139461C	MTOR	NM_004958.4(MTOR):c.4999-26A>G	noncoding	Benign
1	11139479	C	A	C11139479A	MTOR	NM_004958.4(MTOR):c.4999-44G>T	noncoding	Benign
1	11139484	G	A	G11139484A	MTOR	NM_004958.4(MTOR):c.4998+49C>T	noncoding	Benign
1	11139521	G	T	G11139521T	MTOR	NM_004958.4(MTOR):c.4998+12C>A	noncoding	Benign
1	11139590	A	C	A11139590C	MTOR	NM_004958.4(MTOR):c.4941T>G:p.His1647Gln	coding	Benign/Likely_benign
1	11144679	A	G	A11144679G	MTOR	NM_004958.4(MTOR):c.4841T>C:p.Ile1614Thr	coding	Benign
1	11144683	C	G	C11144683G	MTOR	NM_004958.4(MTOR):c.4837G>C:p.Glu1613Gln	coding	Benign
1	11145034	C	T	C11145034T	MTOR	NM_004958.4(MTOR):c.4698G>A:p.Lys1566=	coding	Benign
1	11145058	C	A	C11145058A	MTOR	NM_004958.4(MTOR):c.4687-13G>T	noncoding	Benign
1	11146422	C	G	C11146422G	MTOR	NM_004958.4(MTOR):c.4686+254G>C	noncoding	Benign
1	11146566	G	A	G11146566A	MTOR	NM_004958.4(MTOR):c.4686+110C>T	noncoding	Benign
1	11146633	A	T	A11146633T	MTOR	NM_004958.4(MTOR):c.4686+43T>A	noncoding	Benign
1	11146739	A	T	A11146739T	MTOR	NM_004958.4(MTOR):c.4623T>A:p.His1541Gln	coding	Benign
1	11146807	T	C	T11146807C	MTOR	NM_004958.4(MTOR):c.4571-16A>G	noncoding	Benign
1	11149842	T	C	T11149842C	MTOR	NM_004958.4(MTOR):c.4570+284A>G	noncoding	Benign
1	11150047	C	T	C11150047T	MTOR	NM_004958.4(MTOR):c.4570+79G>A	noncoding	Benign
1	11150229	G	A	G11150229A	MTOR	NM_004958.4(MTOR):c.4470-3C>T	noncoding	Benign/Likely_benign
1	11156846	T	C	T11156846C	MTOR	NM_004958.4(MTOR):c.4469+306A>G	noncoding	Benign
1	11157137	T	C	T11157137C	MTOR	NM_004958.4(MTOR):c.4469+15A>G	noncoding	Benign
1	11157209	T	C	T11157209C	MTOR	NM_004958.4(MTOR):c.4412A>G:p.Lys1471Arg	coding	Benign
1	11157211	G	C	G11157211C	MTOR	NM_004958.4(MTOR):c.4410C>G:p.Asn1470Lys	coding	Benign
1	11157608	C	T	C11157608T	MTOR	NM_004958.4(MTOR):c.4330-317G>A	noncoding	Benign
1	11167281	C	T	C11167281T	MTOR	NM_004958.4(MTOR):c.4329+161G>A	noncoding	Benign
1	11167303	G	T	G11167303T	MTOR	NM_004958.4(MTOR):c.4329+139C>A	noncoding	Benign
1	11167308	C	T	C11167308T	MTOR	NM_004958.4(MTOR):c.4329+134G>A	noncoding	Benign
1	11167781	G	C	G11167781C	MTOR	NM_004958.4(MTOR):c.4254-264C>G	noncoding	Benign
1	11167807	C	T	C11167807T	MTOR	NM_004958.4(MTOR):c.4254-290G>A	noncoding	Benign
1	11193627	G	T	G11193627T	ANGPTL7;MTOR	NM_021146.4(ANGPTL7):c.525G>T:p.Gln175His	coding	Benign
1	11199449	G	A	G11199449A	MTOR	NM_004958.4(MTOR):c.4108-46C>T	noncoding	Benign
1	11199773	A	C	A11199773C	MTOR	NM_004958.4(MTOR):c.3945-70T>G	noncoding	Benign
1	11199893	T	G	T11199893G	MTOR	NM_004958.4(MTOR):c.3945-190A>C	noncoding	Benign
1	11204516	G	A	G11204516A	MTOR	NM_004958.4(MTOR):c.3944+45C>T	noncoding	Benign
1	11204771	A	C	A11204771C	MTOR	NM_004958.4(MTOR):c.3802-68T>G	noncoding	Benign
1	11209321	G	A	G11209321A	MTOR	NM_004958.4(MTOR):c.3792C>T:p.Asn1264=	coding	Benign
1	11209395	C	T	C11209395T	MTOR	NM_004958.4(MTOR):c.3718G>A:p.Gly1240Ser	coding	Benign
1	11209739	T	C	T11209739C	MTOR	NM_004958.4(MTOR):c.3655-281A>G	noncoding	Benign
1	11210875	A	G	A11210875G	MTOR	NM_004958.4(MTOR):c.3593T>C:p.Val1198Ala	coding	Benign
1	11212805	G	C	G11212805C	MTOR	NM_004958.4(MTOR):c.3389C>G:p.Pro1130Arg	coding	Benign
1	11212842	T	C	T11212842C	MTOR	NM_004958.4(MTOR):c.3352A>G:p.Ile1118Val	coding	Benign/Likely_benign
1	11212934	G	A	G11212934A	MTOR	NM_004958.4(MTOR):c.3286-26C>T	noncoding	Benign
1	11213361	T	G	T11213361G	MTOR	NM_004958.4(MTOR):c.3285+38A>C	noncoding	Benign
1	11213385	C	T	C11213385T	MTOR	NM_004958.4(MTOR):c.3285+14G>A	noncoding	Benign
1	11213386	G	A	G11213386A	MTOR	NM_004958.4(MTOR):c.3285+13C>T	noncoding	Benign/Likely_benign
1	11213413	T	C	T11213413C	MTOR	NM_004958.4(MTOR):c.3271A>G:p.Ile1091Val	coding	Benign
1	11213437	T	C	T11213437C	MTOR	NM_004958.4(MTOR):c.3247A>G:p.Met1083Val	coding	Benign/Likely_benign
1	11213452	T	C	T11213452C	MTOR	NM_004958.4(MTOR):c.3232A>G:p.Met1078Val	coding	Benign
1	11216114	C	T	C11216114T	MTOR	NM_004958.4(MTOR):c.3117+34G>A	noncoding	Benign
1	11216278	T	C	T11216278C	MTOR	NM_004958.4(MTOR):c.3031-44A>G	noncoding	Benign
1	11216284	C	T	C11216284T	MTOR	NM_004958.4(MTOR):c.3031-50G>A	noncoding	Benign
1	11216296	C	A	C11216296A	MTOR	NM_004958.4(MTOR):c.3031-62G>T	noncoding	Benign
1	11228561	G	A	G11228561A	MTOR	NM_004958.4(MTOR):c.3030+107C>T	noncoding	Benign
1	11228576	G	C	G11228576C	MTOR	NM_004958.4(MTOR):c.3030+92C>G	noncoding	Benign
1	11228621	G	T	G11228621T	MTOR	NM_004958.4(MTOR):c.3030+47C>A	noncoding	Benign
1	11228701	G	A	G11228701A	MTOR	NM_004958.4(MTOR):c.2997C>T:p.Asn999=	coding	Benign
1	11228841	C	T	C11228841T	MTOR	NM_004958.4(MTOR):c.2857G>A:p.Val953Met	coding	Benign/Likely_benign
1	11229104	G	A	G11229104A	MTOR	NM_004958.4(MTOR):c.2780-186C>T	noncoding	Benign
1	11230900	T	A	T11230900A	MTOR	NM_004958.4(MTOR):c.2779+25A>T	noncoding	Benign
1	11230909	G	A	G11230909A	MTOR	NM_004958.4(MTOR):c.2779+16C>T	noncoding	Benign/Likely_benign
1	11231074	G	A	G11231074A	MTOR	NM_004958.4(MTOR):c.2650-20C>T	noncoding	Benign
1	11231317	G	C	G11231317C	MTOR	NM_004958.4(MTOR):c.2632C>G:p.Gln878Glu	coding	Benign
1	11232419	G	A	G11232419A	MTOR	NM_004958.4(MTOR):c.2514+17C>T	noncoding	Benign
1	11232505	T	C	T11232505C	MTOR	NM_004958.4(MTOR):c.2445A>G:p.Lys815=	coding	Benign
1	11232575	A	G	A11232575G	MTOR	NM_004958.4(MTOR):c.2422-47T>C	noncoding	Benign
1	11232609	T	A	T11232609A	MTOR	NM_004958.4(MTOR):c.2422-81A>T	noncoding	Benign
1	11232696	A	G	A11232696G	MTOR	NM_004958.4(MTOR):c.2422-168T>C	noncoding	Benign
1	11232824	A	G	A11232824G	MTOR	NM_004958.4(MTOR):c.2422-296T>C	noncoding	Benign
1	11233143	C	T	C11233143T	MTOR	NM_004958.4(MTOR):c.2421+255G>A	noncoding	Benign
1	11233159	A	G	A11233159G	MTOR	NM_004958.4(MTOR):c.2421+239T>C	noncoding	Benign
1	11233160	G	T	G11233160T	MTOR	NM_004958.4(MTOR):c.2421+238C>A	noncoding	Benign
1	11233527	C	T	C11233527T	MTOR	NM_004958.4(MTOR):c.2332-40G>A	noncoding	Benign
1	11233735	A	C	A11233735C	MTOR	NM_004958.4(MTOR):c.2332-248T>G	noncoding	Benign
1	11233902	C	T	C11233902T	MTOR	NM_004958.4(MTOR):c.2331+241G>A	noncoding	Benign
1	11234130	C	T	C11234130T	MTOR	NM_004958.4(MTOR):c.2331+13G>A	noncoding	Benign
1	11234137	T	C	T11234137C	MTOR	NM_004958.4(MTOR):c.2331+6A>G	noncoding	Benign
1	11234137	T	G	T11234137G	MTOR	NM_004958.4(MTOR):c.2331+6A>C	noncoding	Benign
1	11234325	T	C	T11234325C	MTOR	NM_004958.4(MTOR):c.2209-60A>G	noncoding	Benign
1	11234417	T	A	T11234417A	MTOR	NM_004958.4(MTOR):c.2209-152A>T	noncoding	Benign
1	11237705	T	C	T11237705C	MTOR	NM_004958.4(MTOR):c.2208+138A>G	noncoding	Benign
1	11237821	G	A	G11237821A	MTOR	NM_004958.4(MTOR):c.2208+22C>T	noncoding	Benign
1	11237837	G	A	G11237837A	MTOR	NM_004958.4(MTOR):c.2208+6C>T	noncoding	Benign
1	11238462	C	T	C11238462T	MTOR	NM_004958.4(MTOR):c.1942G>A:p.Ala648Thr	coding	Benign/Likely_benign
1	11238521	C	T	C11238521T	MTOR	NM_004958.4(MTOR):c.1883G>A:p.Arg628His	coding	Benign
1	11238682	T	C	T11238682C	MTOR	NM_004958.4(MTOR):c.1787-65A>G	noncoding	Benign
1	11238733	T	C	T11238733C	MTOR	NM_004958.4(MTOR):c.1787-116A>G	noncoding	Benign
1	11240075	C	T	C11240075T	MTOR	NM_004958.4(MTOR):c.1786+228G>A	noncoding	Benign
1	11240281	A	G	A11240281G	MTOR	NM_004958.4(MTOR):c.1786+22T>C	noncoding	Benign
1	11240287	C	T	C11240287T	MTOR	NM_004958.4(MTOR):c.1786+16G>A	noncoding	Benign
1	11240288	G	A	G11240288A	MTOR	NM_004958.4(MTOR):c.1786+15C>T	noncoding	Benign
1	11240550	G	A	G11240550A	MTOR	NM_004958.4(MTOR):c.1542-3C>T	noncoding	Benign
1	11241594	A	G	A11241594G	MTOR	NM_004958.4(MTOR):c.1500T>C:p.Asp500=	coding	Benign
1	11241784	C	A	C11241784A	MTOR	NM_004958.4(MTOR):c.1413-103G>T	noncoding	Benign
1	11242008	G	A	G11242008A	MTOR	NM_004958.4(MTOR):c.1413-327C>T	noncoding	Benign
1	11243030	C	T	C11243030T	MTOR	NM_004958.4(MTOR):c.1412+84G>A	noncoding	Benign
1	11243096	C	A	C11243096A	MTOR	NM_004958.4(MTOR):c.1412+18G>T	noncoding	Benign
1	11243121	C	T	C11243121T	MTOR	NM_004958.4(MTOR):c.1405G>A:p.Ala469Thr	coding	Benign
1	11243173	A	G	A11243173G	MTOR	NM_004958.4(MTOR):c.1353T>C:p.Tyr451=	coding	Benign
1	11243178	C	T	C11243178T	MTOR	NM_004958.4(MTOR):c.1348G>A:p.Val450Ile	coding	Benign
1	11243194	C	T	C11243194T	MTOR	NM_004958.4(MTOR):c.1332G>A:p.Val444=	coding	Benign
1	11243199	C	T	C11243199T	MTOR	NM_004958.4(MTOR):c.1327G>A:p.Ala443Thr	coding	Benign
1	11247705	T	C	T11247705C	MTOR	NM_004958.4(MTOR):c.1145A>G:p.Asn382Ser	coding	Benign/Likely_benign
1	11247776	T	C	T11247776C	MTOR	NM_004958.4(MTOR):c.1116+43A>G	noncoding	Benign
1	11247854	A	T	A11247854T	MTOR	NM_004958.4(MTOR):c.1081T>A:p.Cys361Ser	coding	Benign/Likely_benign
1	11247904	C	T	C11247904T	MTOR	NM_004958.4(MTOR):c.1031G>A:p.Gly344Glu	coding	Benign
1	11247933	C	T	C11247933T	MTOR	NM_004958.4(MTOR):c.1002G>A:p.Leu334=	coding	Benign
1	11247950	C	T	C11247950T	MTOR	NM_004958.4(MTOR):c.985G>A:p.Ala329Thr	coding	Benign/Likely_benign
1	11248016	C	T	C11248016T	MTOR	NM_004958.4(MTOR):c.919G>A:p.Gly307Arg	coding	Benign
1	11248042	T	C	T11248042C	MTOR	NM_004958.4(MTOR):c.893A>G:p.Lys298Arg	coding	Benign
1	11248122	T	C	T11248122C	MTOR	NM_004958.4(MTOR):c.841-28A>G	noncoding	Benign
1	11248402	G	A	G11248402A	MTOR	NM_004958.4(MTOR):c.841-308C>T	noncoding	Benign
1	11253671	G	A	G11253671A	MTOR	NM_004958.4(MTOR):c.840+168C>T	noncoding	Benign
1	11253848	C	A	C11253848A	MTOR	NM_004958.4(MTOR):c.831G>T:p.Met277Ile	coding	Benign/Likely_benign
1	11253859	T	C	T11253859C	MTOR	NM_004958.4(MTOR):c.820A>G:p.Ile274Val	coding	Benign
1	11255951	G	A	G11255951A	MTOR	NM_004958.4(MTOR):c.705+41C>T	noncoding	Benign
1	11255964	A	G	A11255964G	MTOR	NM_004958.4(MTOR):c.705+28T>C	noncoding	Benign
1	11255966	T	C	T11255966C	MTOR	NM_004958.4(MTOR):c.705+26A>G	noncoding	Benign
1	11256200	A	T	A11256200T	MTOR	NM_004958.4(MTOR):c.505-8T>A	noncoding	Benign/Likely_benign
1	11256891	C	T	C11256891T	MTOR	NM_004958.4(MTOR):c.504+42G>A	noncoding	Benign
1	11256955	T	C	T11256955C	MTOR	NM_004958.4(MTOR):c.482A>G:p.Asn161Ser	coding	Benign/Likely_benign
1	11257178	G	C	G11257178C	MTOR	NM_004958.4(MTOR):c.272-13C>G	noncoding	Benign
1	11257202	C	A	C11257202A	MTOR	NM_004958.4(MTOR):c.272-37G>T	noncoding	Benign
1	11258179	C	T	C11258179T	MTOR	NM_004958.4(MTOR):c.271+306G>A	noncoding	Benign
1	11258571	C	T	C11258571T	MTOR	NM_004958.4(MTOR):c.185G>A:p.Arg62His	coding	Benign
1	11258706	C	G	C11258706G	MTOR	NM_004958.4(MTOR):c.163-113G>C	noncoding	Benign
1	11258750	G	C	G11258750C	MTOR	NM_004958.4(MTOR):c.163-157C>G	noncoding	Benign
1	11258926	T	C	T11258926C	MTOR	NM_004958.4(MTOR):c.162+322A>G	noncoding	Benign
1	11259200	A	G	A11259200G	MTOR	NM_004958.4(MTOR):c.162+48T>C	noncoding	Benign
1	11259312	T	A	T11259312A	MTOR	NM_004958.4(MTOR):c.98A>T:p.Asn33Ile	coding	Benign
1	11259349	C	T	C11259349T	MTOR	NM_004958.4(MTOR):c.61G>A:p.Val21Ile	coding	Benign
1	11259385	C	T	C11259385T	MTOR	NM_004958.4(MTOR):c.25G>A:p.Ala9Thr	coding	Benign
1	11259388	C	T	C11259388T	MTOR	NM_004958.4(MTOR):c.22G>A:p.Ala8Thr	coding	Benign
1	11259530	A	G	A11259530G	MTOR	NM_004958.4(MTOR):c.-14-107T>C	noncoding	Benign
1	11262508	C	G	C11262508G	MTOR	NM_004958.4(MTOR):c.-78G>C	noncoding	Benign
1	11262571	G	T	G11262571T	MTOR	NC_000001.10:g.11322628G>T	noncoding	Benign
1	11262852	G	T	G11262852T	MTOR	NC_000001.10:g.11322909G>T	noncoding	Benign
1	11790308	T	G	T11790308G	MTHFR	NM_005957.5(MTHFR):c.*372A>C	noncoding	Benign
1	11790946	G	C	G11790946C	MTHFR	NM_005957.5(MTHFR):c.1753-48C>G	noncoding	Benign
1	11791061	A	G	A11791061G	MTHFR	NM_005957.5(MTHFR):c.1752+146T>C	noncoding	Benign
1	11791128	C	T	C11791128T	MTHFR	NM_005957.5(MTHFR):c.1752+79G>A	noncoding	Benign
1	11791162	C	T	C11791162T	MTHFR	NM_005957.5(MTHFR):c.1752+45G>A	noncoding	Benign
1	11791211	C	T	C11791211T	MTHFR	NM_005957.5(MTHFR):c.1748G>A:p.Trp583Ter	coding	Pathogenic
1	11791302	C	A	C11791302A	MTHFR	NM_005957.5(MTHFR):c.1657G>T:p.Glu553Ter	coding	Pathogenic
1	11792053	C	T	C11792053T	MTHFR	NM_005957.5(MTHFR):c.1632+225G>A	noncoding	Benign
1	11792184	C	G	C11792184G	MTHFR	NM_005957.5(MTHFR):c.1632+94G>C	noncoding	Benign
1	11792243	C	T	C11792243T	MTHFR	NM_005957.5(MTHFR):c.1632+35G>A	noncoding	Benign
1	11792459	C	T	C11792459T	MTHFR	NM_005957.5(MTHFR):c.1531-80G>A	noncoding	Benign
1	11793937	C	T	C11793937T	MTHFR	NM_005957.5(MTHFR):c.1500G>A:p.Trp500Ter	coding	Pathogenic
1	11794338	C	T	C11794338T	MTHFR	NM_005957.5(MTHFR):c.1347+20G>A	noncoding	Benign
1	11794443	C	T	C11794443T	MTHFR	NM_005957.5(MTHFR):c.1262G>A:p.Trp421Ter	coding	Pathogenic
1	11794614	C	A	C11794614A	MTHFR	NM_005957.5(MTHFR):c.1167-76G>T	noncoding	Benign/Likely_benign
1	11794698	G	A	G11794698A	MTHFR	NM_005957.5(MTHFR):c.1166+31C>T	noncoding	Benign
1	11794765	C	T	C11794765T	MTHFR	NM_005957.5(MTHFR):c.1130G>A:p.Arg377His	coding	Pathogenic
1	11794825	C	T	C11794825T	MTHFR	NM_005957.5(MTHFR):c.1070G>A:p.Arg357His	coding	Pathogenic/Likely_pathogenic
1	11794826	G	A	G11794826A	MTHFR	NM_005957.5(MTHFR):c.1069C>T:p.Arg357Cys	coding	Pathogenic
1	11794981	C	T	C11794981T	MTHFR	NM_005957.5(MTHFR):c.1031+117G>A	noncoding	Benign
1	11795259	G	A	G11795259A	MTHFR	NM_005957.5(MTHFR):c.870C>T:p.Asn290=	coding	Benign
1	11796027	G	A	G11796027A	MTHFR	NM_005957.5(MTHFR):c.780+179C>T	noncoding	Benign
1	11797731	G	A	G11797731A	MTHFR	NM_005957.5(MTHFR):c.587-1332C>T	noncoding	Benign
1	11800060	A	G	A11800060G	MTHFR	NM_005957.5(MTHFR):c.586+152T>C	noncoding	Benign
1	11800063	T	C	T11800063C	MTHFR	NM_005957.5(MTHFR):c.586+149A>G	noncoding	Benign
1	11800250	C	T	C11800250T	MTHFR	NM_005957.5(MTHFR):c.548G>A:p.Arg183Gln	coding	Pathogenic/Likely_pathogenic
1	11800275	C	T	C11800275T	MTHFR	NM_005957.5(MTHFR):c.523G>A:p.Ala175Thr	coding	Pathogenic
1	11800303	C	T	C11800303T	MTHFR	NM_005957.5(MTHFR):c.495G>A:p.Trp165Ter	coding	Pathogenic
1	11800398	C	T	C11800398T	MTHFR	NM_005957.5(MTHFR):c.476-76G>A	noncoding	Benign
1	11800401	C	T	C11800401T	MTHFR	NM_005957.5(MTHFR):c.476-79G>A	noncoding	Benign
1	11800626	T	C	T11800626C	MTHFR	NM_005957.5(MTHFR):c.476-304A>G	noncoding	Benign
1	11801162	T	A	T11801162A	MTHFR	NM_005957.5(MTHFR):c.474A>T:p.Gly158=	coding	Pathogenic
1	11801177	G	C	G11801177C	MTHFR	NM_005957.5(MTHFR):c.459C>G:p.Ile153Met	coding	Pathogenic
1	11801185	T	A	T11801185A	MTHFR	NM_005957.5(MTHFR):c.451A>T:p.Lys151Ter	coding	Pathogenic
1	11802721	A	G	A11802721G	MTHFR	NM_005957.5(MTHFR):c.236+160T>C	noncoding	Benign
1	11802940	C	T	C11802940T	MTHFR	NM_005957.5(MTHFR):c.177G>A:p.Trp59Ter	coding	Pathogenic
1	11803220	G	A	G11803220A	MTHFR	NM_005957.5(MTHFR):c.-13-91C>T	noncoding	Benign
1	11806126	C	T	C11806126T	MTHFR	NC_000001.10:g.11866183C>T	noncoding	Benign
1	11806337	C	A	C11806337A	CLCN6	NM_001286.5(CLCN6):c.75C>A:p.Thr25=	coding	Benign
1	11815922	C	A	C11815922A	CLCN6	NM_001286.5(CLCN6):c.213+11C>A	noncoding	Benign
1	11816605	G	A	G11816605A	CLCN6	NM_001286.5(CLCN6):c.214-10G>A	noncoding	Benign
1	11816629	T	C	T11816629C	CLCN6	NM_001286.5(CLCN6):c.228T>C:p.Tyr76=	coding	Benign
1	11816635	G	A	G11816635A	CLCN6	NM_001286.5(CLCN6):c.234G>A:p.Ala78=	coding	Benign
1	11819499	T	C	T11819499C	CLCN6	NM_001286.5(CLCN6):c.291T>C:p.Phe97=	coding	Benign
1	11819529	A	G	A11819529G	CLCN6	NM_001286.5(CLCN6):c.321A>G:p.Gln107=	coding	Benign
1	11822690	C	T	C11822690T	CLCN6	NM_001286.5(CLCN6):c.347-5C>T	noncoding	Benign
1	11823775	C	T	C11823775T	CLCN6	NM_001286.5(CLCN6):c.522C>T:p.Ile174=	coding	Benign
1	11824498	A	G	A11824498G	CLCN6	NM_001286.5(CLCN6):c.593A>G:p.Glu198Gly	coding	Benign
1	11824562	G	A	G11824562A	CLCN6	NM_001286.5(CLCN6):c.648+9G>A	noncoding	Benign
1	11824571	G	A	G11824571A	CLCN6	NM_001286.5(CLCN6):c.648+18G>A	noncoding	Benign
1	11827069	C	T	C11827069T	CLCN6	NM_001286.5(CLCN6):c.708-20C>T	noncoding	Benign
1	11827170	C	T	C11827170T	CLCN6	NM_001286.5(CLCN6):c.789C>T:p.Phe263=	coding	Benign
1	11827237	A	T	A11827237T	CLCN6	NM_001286.5(CLCN6):c.840+16A>T	noncoding	Benign
1	11828493	A	G	A11828493G	CLCN6	NM_001286.5(CLCN6):c.990A>G:p.Thr330=	coding	Benign
1	11828601	G	A	G11828601A	CLCN6	NM_001286.5(CLCN6):c.1098G>A:p.Val366=	coding	Benign
1	11829180	G	A	G11829180A	CLCN6	NM_001286.5(CLCN6):c.1122-16G>A	noncoding	Benign
1	11833495	T	A	T11833495A	CLCN6	NM_001286.5(CLCN6):c.1249-20T>A	noncoding	Benign
1	11834408	C	T	C11834408T	CLCN6	NM_001286.5(CLCN6):c.1686+13C>T	noncoding	Benign
1	11835949	C	T	C11835949T	CLCN6	NM_001286.5(CLCN6):c.1794-18C>T	noncoding	Benign
1	11836057	G	A	G11836057A	CLCN6	NM_001286.5(CLCN6):c.1884G>A:p.Thr628=	coding	Benign
1	11836084	A	G	A11836084G	CLCN6	NM_001286.5(CLCN6):c.1911A>G:p.Thr637=	coding	Benign
1	11837025	C	T	C11837025T	CLCN6	NM_001286.5(CLCN6):c.2007C>T:p.Gly669=	coding	Benign
1	11837163	G	A	G11837163A	CLCN6	NM_001286.5(CLCN6):c.2138+7G>A	noncoding	Benign
1	11837169	C	T	C11837169T	CLCN6	NM_001286.5(CLCN6):c.2138+13C>T	noncoding	Benign
1	11837323	A	G	A11837323G	CLCN6	NM_001286.5(CLCN6):c.2139-20A>G	noncoding	Benign
1	11838373	C	T	C11838373T	CLCN6	NM_001286.5(CLCN6):c.2334C>T:p.Ala778=	coding	Benign
1	11838567	C	T	C11838567T	CLCN6	NM_001286.5(CLCN6):c.2436C>T:p.Phe812=	coding	Benign
1	11845794	A	G	A11845794G	NPPA	NM_006172.4(NPPA):c.*215T>C	noncoding	Benign
1	11845917	A	G	A11845917G	NPPA	NM_006172.4(NPPA):c.*92T>C	noncoding	Benign
1	11845924	A	G	A11845924G	NPPA	NM_006172.4(NPPA):c.*85T>C	noncoding	Benign
1	11845938	C	A	C11845938A	NPPA	NM_006172.4(NPPA):c.*71G>T	noncoding	Benign
1	11846924	T	C	T11846924C	NPPA	NM_006172.4(NPPA):c.450+189A>G	noncoding	Benign
1	11847373	T	G	T11847373G	NPPA	NM_006172.4(NPPA):c.190A>C:p.Ser64Arg	coding	Benign
1	11847510	C	T	C11847510T	NPPA	NM_006172.4(NPPA):c.123+52G>A	coding	Benign
1	11847591	C	T	C11847591T	NPPA	NM_006172.4(NPPA):c.94G>A:p.Val32Met	coding	Benign
1	11848110	C	T	C11848110T	NPPA	Single_allele	noncoding	Benign
1	11934495	G	A	G11934495A	PLOD1	Single_allele	noncoding	Benign
1	11934559	G	C	G11934559C	PLOD1	Single_allele	noncoding	Benign
1	11934630	T	C	T11934630C	PLOD1	Single_allele	noncoding	Benign
1	11948044	C	T	C11948044T	PLOD1	NM_000302.4(PLOD1):c.145C>T:p.Gln49Ter	coding	Pathogenic
1	11950421	C	T	C11950421T	PLOD1	NM_000302.4(PLOD1):c.367C>T:p.Gln123Ter	coding	Pathogenic
1	11950721	A	G	A11950721G	PLOD1	NM_000302.4(PLOD1):c.466+201A>G	noncoding	Benign
1	11952923	G	A	G11952923A	PLOD1	NM_000302.4(PLOD1):c.579+188G>A	noncoding	Benign
1	11952976	C	G	C11952976G	PLOD1	NM_000302.4(PLOD1):c.579+241C>G	noncoding	Benign
1	11955097	G	A	G11955097A	PLOD1	NM_000302.4(PLOD1):c.643+204G>A	noncoding	Benign
1	11956715	T	C	T11956715C	PLOD1	NM_000302.4(PLOD1):c.644-202T>C	noncoding	Benign
1	11958321	C	G	C11958321G	PLOD1	NM_000302.4(PLOD1):c.844-195C>G	noncoding	Benign
1	11958608	C	T	C11958608T	PLOD1	NM_000302.4(PLOD1):c.936C>T:p.His312=	coding	Benign/Likely_benign
1	11958830	A	T	A11958830T	PLOD1	NM_000302.4(PLOD1):c.975+183A>T	noncoding	Benign
1	11960504	G	T	G11960504T	PLOD1	NM_000302.4(PLOD1):c.976-142G>T	noncoding	Benign
1	11963981	G	T	G11963981T	PLOD1	NM_000302.4(PLOD1):c.1203-194G>T	noncoding	Benign
1	11964001	T	C	T11964001C	PLOD1	NM_000302.4(PLOD1):c.1203-174T>C	noncoding	Benign
1	11964020	C	A	C11964020A	PLOD1	NM_000302.4(PLOD1):c.1203-155C>A	noncoding	Benign
1	11964323	T	G	T11964323G	PLOD1	NM_000302.4(PLOD1):c.1328+23T>G	noncoding	Benign
1	11965046	A	C	A11965046C	PLOD1	NM_000302.4(PLOD1):c.1470+261A>C	noncoding	Benign
1	11965296	T	C	T11965296C	PLOD1	NM_000302.4(PLOD1):c.1471-184T>C	noncoding	Benign
1	11966033	A	G	A11966033G	PLOD1	NM_000302.4(PLOD1):c.1585-218A>G	noncoding	Benign
1	11967147	C	T	C11967147T	PLOD1	NM_000302.4(PLOD1):c.1755+56C>T	noncoding	Benign
1	11967251	G	A	G11967251A	PLOD1	NM_000302.4(PLOD1):c.1755+160G>A	noncoding	Benign
1	11967273	G	A	G11967273A	PLOD1	NM_000302.4(PLOD1):c.1755+182G>A	noncoding	Benign
1	11970657	C	T	C11970657T	PLOD1	NM_000302.4(PLOD1):c.1756-13C>T	noncoding	Benign/Likely_benign
1	11970829	G	A	G11970829A	PLOD1	NM_000302.4(PLOD1):c.1902+13G>A	noncoding	Benign/Likely_benign
1	11972597	C	G	C11972597G	PLOD1	NM_000302.4(PLOD1):c.1903-275C>G	noncoding	Benign
1	11972994	C	G	C11972994G	PLOD1	NM_000302.4(PLOD1):c.2025C>G:p.Tyr675Ter	coding	Pathogenic
1	11973056	A	G	A11973056G	PLOD1	NM_000302.4(PLOD1):c.2028+59A>G	noncoding	Benign
1	11973063	G	C	G11973063C	PLOD1	NM_000302.4(PLOD1):c.2028+66G>C	noncoding	Benign
1	11980146	A	G	A11980146G	MFN2	Single_allele	noncoding	Benign
1	11982204	A	G	A11982204G	MFN2	NM_014874.4(MFN2):c.-5+90A>G	noncoding	Benign
1	11982241	C	T	C11982241T	MFN2	NM_014874.4(MFN2):c.-5+127C>T	noncoding	Benign
1	11989357	G	A	G11989357A	MFN2	NM_014874.4(MFN2):c.175+14G>A	noncoding	Benign
1	11992641	A	T	A11992641T	MFN2	NM_014874.4(MFN2):c.262A>T:p.Ile88Phe	coding	Pathogenic
1	11992642	T	C	T11992642C	MFN2	NM_014874.4(MFN2):c.263T>C:p.Ile88Thr	coding	Pathogenic/Likely_pathogenic
1	11992662	A	G	A11992662G	MFN2	NM_014874.4(MFN2):c.283A>G:p.Arg95Gly	coding	Pathogenic
1	11992664	G	C	G11992664C	MFN2	NM_014874.4(MFN2):c.285G>C:p.Arg95Ser	coding	Pathogenic
1	11992664	G	T	G11992664T	MFN2	NM_014874.4(MFN2):c.285G>T:p.Arg95Ser	coding	Pathogenic
1	11996162	C	G	C11996162G	MFN2	NM_014874.4(MFN2):c.318C>G:p.Ser106Arg	coding	Pathogenic
1	11996170	A	G	A11996170G	MFN2	NM_014874.4(MFN2):c.326A>G:p.Lys109Arg	coding	Pathogenic
1	11996226	C	T	C11996226T	MFN2	NM_014874.4(MFN2):c.382C>T:p.His128Tyr	coding	Pathogenic
1	11996280	C	T	C11996280T	MFN2	NM_014874.4(MFN2):c.436C>T:p.Leu146Phe	coding	Pathogenic/Likely_pathogenic
1	11996383	C	T	C11996383T	MFN2	NM_014874.4(MFN2):c.474+65C>T	noncoding	Benign
1	11996596	A	G	A11996596G	MFN2	NM_014874.4(MFN2):c.474+278A>G	noncoding	Benign
1	11998739	T	G	T11998739G	MFN2	NM_014874.4(MFN2):c.600-31T>G	noncoding	Pathogenic
1	11998745	T	C	T11998745C	MFN2	NM_014874.4(MFN2):c.600-25T>C	noncoding	Benign
1	11998862	C	T	C11998862T	MFN2	NM_014874.4(MFN2):c.692C>T:p.Ser231Phe	coding	Pathogenic/Likely_pathogenic
1	11999031	C	T	C11999031T	MFN2	NM_014874.4(MFN2):c.752C>T:p.Pro251Leu	coding	Pathogenic
1	11999080	C	T	C11999080T	MFN2	NM_014874.4(MFN2):c.801C>T:p.Pro267=	coding	Benign
1	12001402	T	G	T12001402G	MFN2	NM_014874.4(MFN2):c.818T>G:p.Val273Gly	coding	Pathogenic/Likely_pathogenic
1	12001404	C	T	C12001404T	MFN2	NM_014874.4(MFN2):c.820C>T:p.Arg274Trp	coding	Pathogenic
1	12001476	G	A	G12001476A	MFN2	NM_014874.4(MFN2):c.892G>A:p.Gly298Arg	coding	Benign/Likely_benign
1	12001506	G	T	G12001506T	MFN2	NM_014874.4(MFN2):c.922G>T:p.Glu308Ter	coding	Pathogenic
1	12001567	A	G	A12001567G	MFN2	NM_014874.4(MFN2):c.970+13A>G	noncoding	Benign
1	12001960	T	C	T12001960C	MFN2	NM_014874.4(MFN2):c.1039-22T>C	noncoding	Benign
1	12002012	A	G	A12002012G	MFN2	NM_014874.4(MFN2):c.1069A>G:p.Lys357Glu	coding	Pathogenic
1	12002028	C	T	C12002028T	MFN2	NM_014874.4(MFN2):c.1085C>T:p.Thr362Met	coding	Pathogenic/Likely_pathogenic
1	12002070	T	G	T12002070G	MFN2	NM_014874.4(MFN2):c.1127T>G:p.Met376Arg	coding	Pathogenic
1	12005827	C	T	C12005827T	MFN2	NM_014874.4(MFN2):c.1612C>T:p.Gln538Ter	coding	Pathogenic
1	12006267	A	G	A12006267G	MFN2	NM_014874.4(MFN2):c.1717-271A>G	noncoding	Benign
1	12006610	G	T	G12006610T	MFN2	NM_014874.4(MFN2):c.1789G>T:p.Glu597Ter	coding	Pathogenic
1	12006756	T	C	T12006756C	MFN2	NM_014874.4(MFN2):c.1872+63T>C	noncoding	Benign
1	12007148	C	G	C12007148G	MFN2	NM_014874.4(MFN2):c.1968C>G:p.Ala656=	coding	Benign/Likely_benign
1	12007267	A	G	A12007267G	MFN2	NM_014874.4(MFN2):c.2069+18A>G	noncoding	Benign/Likely_benign
1	12007331	C	T	C12007331T	MFN2	NM_014874.4(MFN2):c.2069+82C>T	noncoding	Benign
1	12009581	C	G	C12009581G	MFN2	NM_014874.4(MFN2):c.2070-11C>G	noncoding	Benign
1	12009651	T	C	T12009651C	MFN2	NM_014874.4(MFN2):c.2129T>C:p.Leu710Pro	coding	Pathogenic
1	12011376	C	G	C12011376G	MFN2	NM_014874.4(MFN2):c.2205-120C>G	noncoding	Benign
1	12011504	C	T	C12011504T	MFN2	NM_014874.4(MFN2):c.2213C>T:p.Ala738Val	coding	Pathogenic
1	12011513	T	G	T12011513G	MFN2	NM_014874.4(MFN2):c.2222T>G:p.Leu741Trp	coding	Pathogenic
1	12242330	G	A	G12242330A	VPS13D	NM_015378.4(VPS13D):c.98-183G>A	noncoding	Benign
1	12244637	A	G	A12244637G	VPS13D	NM_015378.4(VPS13D):c.447+20A>G	noncoding	Benign
1	12253770	A	G	A12253770G	VPS13D	NM_015378.4(VPS13D):c.613A>G:p.Ile205Val	coding	Benign
1	12256314	G	T	G12256314T	VPS13D	NM_015378.4(VPS13D):c.670-19G>T	noncoding	Benign
1	12256527	A	G	A12256527G	VPS13D	NM_015378.4(VPS13D):c.840+24A>G	noncoding	Benign
1	12256995	C	T	C12256995T	VPS13D	NM_015378.4(VPS13D):c.849C>T:p.Tyr283=	coding	Benign
1	12257944	A	G	A12257944G	VPS13D	NM_015378.4(VPS13D):c.951A>G:p.Glu317=	coding	Benign
1	12257968	T	C	T12257968C	VPS13D	NM_015378.4(VPS13D):c.975T>C:p.Ala325=	coding	Benign
1	12257970	A	G	A12257970G	VPS13D	NM_015378.4(VPS13D):c.977A>G:p.Asn326Ser	coding	Benign
1	12258022	G	A	G12258022A	VPS13D	NM_015378.4(VPS13D):c.1029G>A:p.Leu343=	coding	Benign
1	12260696	G	A	G12260696A	VPS13D	NM_015378.4(VPS13D):c.1114G>A:p.Glu372Lys	coding	Benign
1	12260892	T	G	T12260892G	VPS13D	NM_015378.4(VPS13D):c.1213-56T>G	noncoding	Benign
1	12260964	A	T	A12260964T	VPS13D	NM_015378.4(VPS13D):c.1229A>T:p.Gln410Leu	coding	Benign
1	12261025	G	A	G12261025A	VPS13D	NM_015378.4(VPS13D):c.1290G>A:p.Leu430=	coding	Benign
1	12267219	G	C	G12267219C	VPS13D	NM_015378.4(VPS13D):c.1725+208G>C	noncoding	Benign
1	12267945	T	A	T12267945A	VPS13D	NM_015378.4(VPS13D):c.1801+25T>A	noncoding	Benign
1	12268670	C	T	C12268670T	VPS13D	NM_015378.4(VPS13D):c.1802-36C>T	noncoding	Benign
1	12276090	T	C	T12276090C	VPS13D	NM_015378.4(VPS13D):c.2502T>C:p.Asn834=	coding	Benign
1	12276728	C	T	C12276728T	VPS13D	NM_015378.4(VPS13D):c.3140C>T:p.Pro1047Leu	coding	Benign
1	12276766	G	A	G12276766A	VPS13D	NM_015378.4(VPS13D):c.3178G>A:p.Asp1060Asn	coding	Benign
1	12276860	G	A	G12276860A	VPS13D	NM_015378.4(VPS13D):c.3272G>A:p.Cys1091Tyr	coding	Benign
1	12277254	T	C	T12277254C	VPS13D	NM_015378.4(VPS13D):c.3666T>C:p.Leu1222=	coding	Benign
1	12279562	A	T	A12279562T	VPS13D	NM_015378.4(VPS13D):c.4514A>T:p.Glu1505Val	coding	Benign
1	12282542	T	G	T12282542G	VPS13D	NM_015378.4(VPS13D):c.4603-163T>G	noncoding	Benign
1	12282624	G	A	G12282624A	VPS13D	NM_015378.4(VPS13D):c.4603-81G>A	noncoding	Benign
1	12282696	T	A	T12282696A	VPS13D	NM_015378.4(VPS13D):c.4603-9T>A	noncoding	Benign
1	12283402	C	T	C12283402T	VPS13D	NM_015378.4(VPS13D):c.5300C>T:p.Thr1767Ile	coding	Benign
1	12293560	C	T	C12293560T	VPS13D	NM_015378.4(VPS13D):c.5889C>T:p.His1963=	coding	Benign
1	12308279	A	C	A12308279C	VPS13D	NM_015378.4(VPS13D):c.6440-152A>C	noncoding	Benign
1	12308486	C	T	C12308486T	VPS13D	NM_015378.4(VPS13D):c.6495C>T:p.Ile2165=	coding	Benign
1	12311750	G	A	G12311750A	VPS13D	NM_015378.4(VPS13D):c.6823-63G>A	noncoding	Benign
1	12311937	A	G	A12311937G	VPS13D	NM_015378.4(VPS13D):c.6935+12A>G	noncoding	Benign
1	12314005	A	T	A12314005T	VPS13D	NM_015378.4(VPS13D):c.6936-110A>T	noncoding	Benign
1	12318000	G	A	G12318000A	VPS13D	NM_015378.4(VPS13D):c.7149-72G>A	noncoding	Benign
1	12319732	A	C	A12319732C	VPS13D	NM_015378.4(VPS13D):c.7548+102A>C	noncoding	Benign
1	12319757	C	G	C12319757G	VPS13D	NM_015378.4(VPS13D):c.7548+127C>G	noncoding	Benign
1	12321653	G	A	G12321653A	VPS13D	NM_015378.4(VPS13D):c.7549-156G>A	noncoding	Benign
1	12322694	C	T	C12322694T	VPS13D	NM_015378.4(VPS13D):c.7863C>T:p.Arg2621=	coding	Benign
1	12327631	T	C	T12327631C	VPS13D	NM_015378.4(VPS13D):c.7991-17T>C	noncoding	Benign
1	12327751	G	C	G12327751C	VPS13D	NM_015378.4(VPS13D):c.8094G>C:p.Ala2698=	coding	Benign
1	12327866	A	C	A12327866C	VPS13D	NM_015378.4(VPS13D):c.8197+12A>C	noncoding	Benign
1	12329896	T	C	T12329896C	VPS13D	NM_015378.4(VPS13D):c.8265T>C:p.Asp2755=	coding	Benign
1	12330102	T	C	T12330102C	VPS13D	NM_015378.4(VPS13D):c.8287+184T>C	noncoding	Benign
1	12333278	G	A	G12333278A	VPS13D	NM_015378.4(VPS13D):c.8340G>A:p.Gln2780=	coding	Benign
1	12335566	T	C	T12335566C	VPS13D	NM_015378.4(VPS13D):c.8429-139T>C	noncoding	Benign
1	12338323	G	A	G12338323A	VPS13D	NM_015378.4(VPS13D):c.8626+18G>A	noncoding	Benign
1	12338356	T	G	T12338356G	VPS13D	NM_015378.4(VPS13D):c.8626+51T>G	noncoding	Benign
1	12341800	C	T	C12341800T	VPS13D	NM_015378.4(VPS13D):c.8647C>T:p.Arg2883Cys	coding	Benign
1	12341811	A	C	A12341811C	VPS13D	NM_015378.4(VPS13D):c.8658A>C:p.Pro2886=	coding	Benign
1	12346607	T	C	T12346607C	VPS13D	NM_015378.4(VPS13D):c.9024T>C:p.Ile3008=	coding	Benign
1	12349546	G	T	G12349546T	VPS13D	NM_015378.4(VPS13D):c.9431+172G>T	noncoding	Benign
1	12354043	A	G	A12354043G	VPS13D	NM_015378.4(VPS13D):c.9501A>G:p.Ala3167=	coding	Benign/Likely_benign
1	12354227	A	T	A12354227T	VPS13D	NM_015378.4(VPS13D):c.9679+6A>T	noncoding	Benign
1	12355976	C	T	C12355976T	VPS13D	NM_015378.4(VPS13D):c.9757C>T:p.Arg3253Ter	coding	Pathogenic
1	12356112	G	T	G12356112T	VPS13D	NM_015378.4(VPS13D):c.9871+22G>T	noncoding	Benign
1	12358465	G	A	G12358465A	VPS13D	NM_015378.4(VPS13D):c.10005G>A:p.Thr3335=	coding	Benign
1	12358553	T	C	T12358553C	VPS13D	NM_015378.4(VPS13D):c.10093T>C:p.Leu3365=	coding	Benign
1	12368461	C	T	C12368461T	VPS13D	NM_015378.4(VPS13D):c.10449-7C>T	noncoding	Benign
1	12369456	C	T	C12369456T	VPS13D	NM_015378.4(VPS13D):c.10573-11C>T	noncoding	Benign
1	12369530	A	G	A12369530G	VPS13D	NM_015378.4(VPS13D):c.10636A>G:p.Met3546Val	coding	Benign
1	12369556	C	T	C12369556T	VPS13D	NM_015378.4(VPS13D):c.10662C>T:p.Asp3554=	coding	Benign
1	12378571	C	T	C12378571T	VPS13D	NM_015378.4(VPS13D):c.11061C>T:p.Leu3687=	coding	Benign
1	12378659	A	C	A12378659C	VPS13D	NM_015378.4(VPS13D):c.11081+68A>C	noncoding	Benign
1	12403817	T	C	T12403817C	VPS13D	NM_015378.4(VPS13D):c.11882-8T>C	noncoding	Benign/Likely_benign
1	12415089	C	T	C12415089T	VPS13D	NM_015378.4(VPS13D):c.12033C>T:p.Ala4011=	coding	Benign
1	12417036	G	A	G12417036A	VPS13D	NM_015378.4(VPS13D):c.12333+209G>A	noncoding	Benign
1	12456102	T	C	T12456102C	VPS13D	NM_015378.4(VPS13D):c.12438T>C:p.Leu4146=	coding	Benign
1	12507106	C	T	C12507106T	VPS13D	NM_015378.4(VPS13D):c.13035+13C>T	noncoding	Benign
1	12509036	T	C	T12509036C	VPS13D	NM_015378.4(VPS13D):c.*12T>C	noncoding	Benign
1	15438465	A	G	A15438465G	CTRC	NM_007272.3(CTRC):c.1A>G:p.Met1Val	coding	Pathogenic
1	15438679	C	A	C15438679A	CTRC	NM_007272.3(CTRC):c.40+175C>A	noncoding	Benign
1	15440122	A	T	A15440122T	CTRC	NM_007272.3(CTRC):c.41-178A>T	noncoding	Benign
1	15440524	G	A	G15440524A	CTRC	NM_007272.3(CTRC):c.164G>A:p.Trp55Ter	coding	Pathogenic
1	15440525	G	A	G15440525A	CTRC	NM_007272.3(CTRC):c.165G>A:p.Trp55Ter	coding	Pathogenic
1	15442237	A	G	A15442237G	CTRC	NM_007272.3(CTRC):c.231-210A>G	noncoding	Benign
1	15442433	C	T	C15442433T	CTRC	NM_007272.3(CTRC):c.231-14C>T	noncoding	Benign/Likely_benign
1	15442579	G	C	G15442579C	CTRC	NM_007272.3(CTRC):c.356+7G>C	noncoding	Benign/Likely_benign
1	15443438	A	T	A15443438T	CTRC	NM_007272.3(CTRC):c.376A>T:p.Lys126Ter	coding	Pathogenic
1	15444605	G	C	G15444605C	CTRC	NM_007272.3(CTRC):c.494-1G>C	noncoding	Pathogenic/Likely_pathogenic
1	15446438	A	G	A15446438G	CTRC	NM_007272.3(CTRC):c.793-137A>G	noncoding	Benign
1	15446504	G	A	G15446504A	CTRC	NM_007272.3(CTRC):c.793-71G>A	noncoding	Benign
1	15446530	G	T	G15446530T	CTRC	NM_007272.3(CTRC):c.793-45G>T	noncoding	Benign
1	15446533	G	A	G15446533A	CTRC	NM_007272.3(CTRC):c.793-42G>A	noncoding	Benign
1	15446675	A	G	A15446675G	CTRC	NM_007272.3(CTRC):c.*86A>G	noncoding	Benign
1	15524118	G	A	G15524118A	CASP9	NM_001229.5(CASP9):c.83C>T:p.Ala28Val	coding	Benign
1	15684135	G	A	G15684135A	PLEKHM2	Single_allele	noncoding	Benign
1	15684398	C	T	C15684398T	PLEKHM2	NM_015164.4(PLEKHM2):c.-161C>T	noncoding	Benign
1	15715894	T	C	T15715894C	PLEKHM2	NM_015164.4(PLEKHM2):c.61-343T>C	noncoding	Benign
1	15716271	T	C	T15716271C	PLEKHM2	NM_015164.4(PLEKHM2):c.95T>C:p.Ile32Thr	coding	Benign
1	15716329	C	T	C15716329T	PLEKHM2	NM_015164.4(PLEKHM2):c.153C>T:p.His51=	coding	Benign
1	15716646	G	A	G15716646A	PLEKHM2	NM_015164.4(PLEKHM2):c.168-61G>A	noncoding	Benign
1	15716662	G	A	G15716662A	PLEKHM2	NM_015164.4(PLEKHM2):c.168-45G>A	noncoding	Benign
1	15717876	C	T	C15717876T	PLEKHM2	NM_015164.4(PLEKHM2):c.278-17C>T	noncoding	Benign
1	15717906	G	A	G15717906A	PLEKHM2	NM_015164.4(PLEKHM2):c.291G>A:p.Leu97=	coding	Benign
1	15718312	C	G	C15718312G	PLEKHM2	NM_015164.4(PLEKHM2):c.378-226C>G	noncoding	Benign
1	15718434	A	G	A15718434G	PLEKHM2	NM_015164.4(PLEKHM2):c.378-104A>G	noncoding	Benign
1	15718450	G	A	G15718450A	PLEKHM2	NM_015164.4(PLEKHM2):c.378-88G>A	noncoding	Benign
1	15718548	G	A	G15718548A	PLEKHM2	NM_015164.4(PLEKHM2):c.388G>A:p.Val130Ile	coding	Benign
1	15718559	C	T	C15718559T	PLEKHM2	NM_015164.4(PLEKHM2):c.399C>T:p.His133=	coding	Benign
1	15718679	G	A	G15718679A	PLEKHM2	NM_015164.4(PLEKHM2):c.465+54G>A	noncoding	Benign
1	15718755	A	G	A15718755G	PLEKHM2	NM_015164.4(PLEKHM2):c.465+130A>G	noncoding	Benign
1	15718766	T	C	T15718766C	PLEKHM2	NM_015164.4(PLEKHM2):c.465+141T>C	noncoding	Benign
1	15719614	C	T	C15719614T	PLEKHM2	NM_015164.4(PLEKHM2):c.466-120C>T	noncoding	Benign
1	15720149	T	A	T15720149A	PLEKHM2	NM_015164.4(PLEKHM2):c.652+229T>A	noncoding	Benign
1	15721231	T	C	T15721231C	PLEKHM2	NM_015164.4(PLEKHM2):c.653-98T>C	noncoding	Benign
1	15721510	A	G	A15721510G	PLEKHM2	NM_015164.4(PLEKHM2):c.712+122A>G	noncoding	Benign
1	15721543	T	C	T15721543C	PLEKHM2	NM_015164.4(PLEKHM2):c.712+155T>C	noncoding	Benign
1	15721619	C	T	C15721619T	PLEKHM2	NM_015164.4(PLEKHM2):c.712+231C>T	noncoding	Benign
1	15725052	G	C	G15725052C	PLEKHM2	NM_015164.4(PLEKHM2):c.713-265G>C	noncoding	Benign
1	15725089	C	T	C15725089T	PLEKHM2	NM_015164.4(PLEKHM2):c.713-228C>T	noncoding	Benign
1	15725252	G	A	G15725252A	PLEKHM2	NM_015164.4(PLEKHM2):c.713-65G>A	noncoding	Benign
1	15725272	C	T	C15725272T	PLEKHM2	NM_015164.4(PLEKHM2):c.713-45C>T	noncoding	Benign
1	15726998	G	A	G15726998A	PLEKHM2	NM_015164.4(PLEKHM2):c.942-16G>A	noncoding	Benign
1	15727293	G	A	G15727293A	PLEKHM2	NM_015164.4(PLEKHM2):c.1221G>A:p.Gly407=	coding	Benign
1	15727394	C	G	C15727394G	PLEKHM2	NM_015164.4(PLEKHM2):c.1322C>G:p.Ser441Cys	coding	Benign
1	15728544	C	T	C15728544T	PLEKHM2	NM_015164.4(PLEKHM2):c.1922-125C>T	noncoding	Benign
1	15729084	C	T	C15729084T	PLEKHM2	NM_015164.4(PLEKHM2):c.1987-18C>T	noncoding	Benign
1	15729085	G	A	G15729085A	PLEKHM2	NM_015164.4(PLEKHM2):c.1987-17G>A	noncoding	Benign
1	15729237	C	T	C15729237T	PLEKHM2	NM_015164.4(PLEKHM2):c.2075+47C>T	noncoding	Benign
1	15729436	T	C	T15729436C	PLEKHM2	NM_015164.4(PLEKHM2):c.2075+246T>C	noncoding	Benign
1	15729869	G	A	G15729869A	PLEKHM2	NM_015164.4(PLEKHM2):c.2148G>A:p.Thr716=	coding	Benign
1	15730070	C	T	C15730070T	PLEKHM2	NM_015164.4(PLEKHM2):c.2208+141C>T	noncoding	Benign
1	15730513	G	A	G15730513A	PLEKHM2	NM_015164.4(PLEKHM2):c.2209-19G>A	noncoding	Benign
1	15730518	C	T	C15730518T	PLEKHM2	NM_015164.4(PLEKHM2):c.2209-14C>T	noncoding	Benign
1	15730669	G	A	G15730669A	PLEKHM2	NM_015164.4(PLEKHM2):c.2346G>A:p.Ala782=	coding	Benign
1	15732548	C	T	C15732548T	PLEKHM2	NM_015164.4(PLEKHM2):c.2805+19C>T	noncoding	Benign
1	15733483	A	G	A15733483G	PLEKHM2	NM_015164.4(PLEKHM2):c.2923-314A>G	noncoding	Benign
1	15733630	G	A	G15733630A	PLEKHM2	NM_015164.4(PLEKHM2):c.2923-167G>A	noncoding	Benign
1	15734003	G	A	G15734003A	PLEKHM2	NM_015164.4(PLEKHM2):c.*69G>A	noncoding	Benign
1	15734183	T	C	T15734183C	PLEKHM2	NM_015164.4(PLEKHM2):c.*249T>C	noncoding	Benign
1	15876275	G	A	G15876275A	SPEN	NM_015001.3(SPEN):c.478G>A:p.Asp160Asn	coding	Benign
1	15928254	C	T	C15928254T	SPEN	NM_015001.3(SPEN):c.2014C>T:p.Arg672Ter	coding	Pathogenic
1	15928341	G	T	G15928341T	SPEN	NM_015001.3(SPEN):c.2101G>T:p.Glu701Ter	coding	Pathogenic
1	15928344	C	T	C15928344T	SPEN	NM_015001.3(SPEN):c.2104C>T:p.Arg702Ter	coding	Pathogenic
1	15929149	C	T	C15929149T	SPEN	NM_015001.3(SPEN):c.2909C>T:p.Ala970Val	coding	Benign
1	15929439	C	T	C15929439T	SPEN	NM_015001.3(SPEN):c.3199C>T:p.Gln1067Ter	coding	Pathogenic
1	15929512	T	C	T15929512C	SPEN	NM_015001.3(SPEN):c.3272T>C:p.Leu1091Pro	coding	Benign
1	15929748	C	T	C15929748T	SPEN	NM_015001.3(SPEN):c.3508C>T:p.Arg1170Ter	coding	Pathogenic
1	15930033	C	T	C15930033T	SPEN	NM_015001.3(SPEN):c.3793C>T:p.Arg1265Ter	coding	Pathogenic/Likely_pathogenic
1	15930585	G	T	G15930585T	SPEN	NM_015001.3(SPEN):c.4345G>T:p.Glu1449Ter	coding	Pathogenic
1	15930648	C	T	C15930648T	SPEN	NM_015001.3(SPEN):c.4408C>T:p.Arg1470Ter	coding	Pathogenic
1	15931068	C	T	C15931068T	SPEN	NM_015001.3(SPEN):c.4828C>T:p.Gln1610Ter	coding	Pathogenic
1	15931632	C	T	C15931632T	SPEN	NM_015001.3(SPEN):c.5392C>T:p.Gln1798Ter	coding	Pathogenic
1	15931807	A	G	A15931807G	SPEN	NM_015001.3(SPEN):c.5567A>G:p.Asn1856Ser	coding	Benign
1	15932298	C	T	C15932298T	SPEN	NM_015001.3(SPEN):c.6058C>T:p.Gln2020Ter	coding	Pathogenic
1	15932604	G	T	G15932604T	SPEN	NM_015001.3(SPEN):c.6364G>T:p.Glu2122Ter	coding	Pathogenic
1	15933264	C	T	C15933264T	SPEN	NM_015001.3(SPEN):c.7024C>T:p.Arg2342Ter	coding	Pathogenic
1	15933318	A	G	A15933318G	SPEN	NM_015001.3(SPEN):c.7078A>G:p.Asn2360Asp	coding	Benign
1	15933384	C	T	C15933384T	SPEN	NM_015001.3(SPEN):c.7144C>T:p.Gln2382Ter	coding	Pathogenic
1	15933564	G	T	G15933564T	SPEN	NM_015001.3(SPEN):c.7324G>T:p.Glu2442Ter	coding	Pathogenic
1	15934421	C	T	C15934421T	SPEN	NM_015001.3(SPEN):c.8181C>T:p.Ala2727=	coding	Benign
1	15942289	C	T	C15942289T	ZBTB17	NM_003443.3(ZBTB17):c.2129-37G>A	noncoding	Benign
1	15943242	C	T	C15943242T	ZBTB17	NM_003443.3(ZBTB17):c.1698-48G>A	noncoding	Benign
1	15944661	C	A	C15944661A	ZBTB17	NM_003443.3(ZBTB17):c.1070+36G>T	noncoding	Benign
1	15944672	G	A	G15944672A	ZBTB17	NM_003443.3(ZBTB17):c.1070+25C>T	noncoding	Benign
1	15944685	T	C	T15944685C	ZBTB17	NM_003443.3(ZBTB17):c.1070+12A>G	noncoding	Benign
1	15944765	G	A	G15944765A	ZBTB17	NM_003443.3(ZBTB17):c.1002C>T:p.Phe334=	coding	Benign
1	15945755	A	G	A15945755G	ZBTB17	NM_003443.3(ZBTB17):c.621T>C:p.Ala207=	coding	Benign
1	15945914	C	T	C15945914T	ZBTB17	NM_003443.3(ZBTB17):c.536-74G>A	noncoding	Benign
1	15946438	A	C	A15946438C	ZBTB17	NM_003443.3(ZBTB17):c.395-144T>G	noncoding	Benign
1	15948274	C	T	C15948274T	ZBTB17	NM_003443.3(ZBTB17):c.205+17G>A	noncoding	Benign
1	15948557	C	T	C15948557T	ZBTB17	NM_003443.3(ZBTB17):c.-2-60G>A	noncoding	Benign
1	16022585	G	A	G16022585A	CLCNKA	NM_004070.4(CLCNKA):c.-7-28G>A	noncoding	Benign
1	16022642	G	A	G16022642A	CLCNKA	NM_004070.4(CLCNKA):c.23G>A:p.Arg8His	coding	Benign
1	16022841	C	T	C16022841T	CLCNKA	NM_004070.4(CLCNKA):c.100+122C>T	noncoding	Benign
1	16023533	A	G	A16023533G	CLCNKA	NM_004070.4(CLCNKA):c.101-267A>G	noncoding	Benign
1	16024197	G	C	G16024197C	CLCNKA	NM_004070.4(CLCNKA):c.229+269G>C	noncoding	Benign
1	16024460	T	C	T16024460C	CLCNKA	NM_004070.4(CLCNKA):c.230-303T>C	noncoding	Benign
1	16024642	C	G	C16024642G	CLCNKA	NM_004070.4(CLCNKA):c.230-121C>G	noncoding	Benign
1	16024711	C	T	C16024711T	CLCNKA	NM_004070.4(CLCNKA):c.230-52C>T	noncoding	Benign
1	16024748	C	T	C16024748T	CLCNKA	NM_004070.4(CLCNKA):c.230-15C>T	noncoding	Benign
1	16024991	C	G	C16024991G	CLCNKA	NM_004070.4(CLCNKA):c.358+100C>G	noncoding	Benign
1	16025991	C	A	C16025991A	CLCNKA	NM_004070.4(CLCNKA):c.359-117C>A	noncoding	Benign
1	16025997	G	A	G16025997A	CLCNKA	NM_004070.4(CLCNKA):c.359-111G>A	noncoding	Benign
1	16026442	G	A	G16026442A	CLCNKA	NM_004070.4(CLCNKA):c.499-94G>A	noncoding	Benign
1	16026905	T	C	T16026905C	CLCNKA	NM_004070.4(CLCNKA):c.655+130T>C	noncoding	Benign
1	16026920	C	A	C16026920A	CLCNKA	NM_004070.4(CLCNKA):c.655+145C>A	noncoding	Benign
1	16026987	A	G	A16026987G	CLCNKA	NM_004070.4(CLCNKA):c.655+212A>G	noncoding	Benign
1	16027031	C	T	C16027031T	CLCNKA	NM_004070.4(CLCNKA):c.655+256C>T	noncoding	Benign
1	16027252	C	A	C16027252A	CLCNKA	NM_004070.4(CLCNKA):c.656-58C>A	noncoding	Benign
1	16027785	G	C	G16027785C	CLCNKA	NM_004070.4(CLCNKA):c.782-36G>C	noncoding	Benign
1	16027786	C	G	C16027786G	CLCNKA	NM_004070.4(CLCNKA):c.782-35C>G	noncoding	Benign
1	16028095	A	T	A16028095T	CLCNKA	NM_004070.4(CLCNKA):c.944A>T:p.Tyr315Phe	coding	Benign
1	16028463	C	T	C16028463T	CLCNKA	NM_004070.4(CLCNKA):c.969-298C>T	noncoding	Benign
1	16028469	G	A	G16028469A	CLCNKA	NM_004070.4(CLCNKA):c.969-292G>A	noncoding	Benign
1	16028930	A	G	A16028930G	CLCNKA	NM_004070.4(CLCNKA):c.1053+85A>G	noncoding	Benign
1	16029030	G	A	G16029030A	CLCNKA	NM_004070.4(CLCNKA):c.1054-96G>A	noncoding	Benign
1	16029119	G	A	G16029119A	CLCNKA	NM_004070.4(CLCNKA):c.1054-7G>A	noncoding	Benign
1	16029143	T	A	T16029143A	CLCNKA	NM_004070.4(CLCNKA):c.1071T>A:p.His357Gln	coding	Benign
1	16029361	G	C	G16029361C	CLCNKA	NM_004070.4(CLCNKA):c.1227+62G>C	noncoding	Benign
1	16029692	C	T	C16029692T	CLCNKA	NM_004070.4(CLCNKA):c.1228-39C>T	noncoding	Benign
1	16030002	C	G	C16030002G	CLCNKA	NM_004070.4(CLCNKA):c.1335C>G:p.Ala445=	coding	Benign
1	16030006	G	A	G16030006A	CLCNKA	NM_004070.4(CLCNKA):c.1339G>A:p.Ala447Thr	coding	Benign
1	16030027	A	G	A16030027G	CLCNKA	NM_004070.4(CLCNKA):c.1360A>G:p.Thr454Ala	coding	Benign
1	16030036	G	A	G16030036A	CLCNKA	NM_004070.4(CLCNKA):c.1369G>A:p.Val457Ile	coding	Benign
1	16030038	T	C	T16030038C	CLCNKA	NM_004070.4(CLCNKA):c.1371T>C:p.Val457=	coding	Benign
1	16030088	C	T	C16030088T	CLCNKA	NM_004070.4(CLCNKA):c.1408+13C>T	noncoding	Benign
1	16030207	G	A	G16030207A	CLCNKA	NM_004070.4(CLCNKA):c.1408+132G>A	noncoding	Benign
1	16030374	C	T	C16030374T	CLCNKA	NM_004070.4(CLCNKA):c.1409-87C>T	noncoding	Benign
1	16030375	G	A	G16030375A	CLCNKA	NM_004070.4(CLCNKA):c.1409-86G>A	noncoding	Benign
1	16030420	C	G	C16030420G	CLCNKA	NM_004070.4(CLCNKA):c.1409-41C>G	noncoding	Benign
1	16030540	G	A	G16030540A	CLCNKA	NM_004070.4(CLCNKA):c.1488G>A:p.Val496=	coding	Benign
1	16030652	C	T	C16030652T	CLCNKA	NM_004070.4(CLCNKA):c.1600C>T:p.Arg534Trp	coding	Benign
1	16030953	A	G	A16030953G	CLCNKA	NM_004070.4(CLCNKA):c.1622+279A>G	noncoding	Benign
1	16030955	A	G	A16030955G	CLCNKA	NM_004070.4(CLCNKA):c.1622+281A>G	noncoding	Benign
1	16031590	C	A	C16031590A	CLCNKA	NM_004070.4(CLCNKA):c.1623-120C>A	noncoding	Benign
1	16031639	T	C	T16031639C	CLCNKA	NM_004070.4(CLCNKA):c.1623-71T>C	noncoding	Benign
1	16031653	T	C	T16031653C	CLCNKA	NM_004070.4(CLCNKA):c.1623-57T>C	noncoding	Benign
1	16031871	C	T	C16031871T	CLCNKA	NM_004070.4(CLCNKA):c.1756+28C>T	noncoding	Benign
1	16032025	T	C	T16032025C	CLCNKA	NM_004070.4(CLCNKA):c.1757-178T>C	noncoding	Benign
1	16032190	C	G	C16032190G	CLCNKA	NM_004070.4(CLCNKA):c.1757-13C>G	noncoding	Benign
1	16032325	G	A	G16032325A	CLCNKA	NM_004070.4(CLCNKA):c.1845+34G>A	noncoding	Benign
1	16032557	A	G	A16032557G	CLCNKA	NM_004070.4(CLCNKA):c.1929+31A>G	noncoding	Benign
1	16032759	G	A	G16032759A	CLCNKA	NM_004070.4(CLCNKA):c.1929+233G>A	noncoding	Benign
1	16032973	T	G	T16032973G	CLCNKA	NM_004070.4(CLCNKA):c.1930-197T>G	noncoding	Benign
1	16033332	A	G	A16033332G	CLCNKA	NM_004070.4(CLCNKA):c.2016+76A>G	noncoding	Benign
1	16033456	C	T	C16033456T	CLCNKA	NM_004070.4(CLCNKA):c.2017-155C>T	noncoding	Benign
1	16033595	C	T	C16033595T	CLCNKA	NM_004070.4(CLCNKA):c.2017-16C>T	noncoding	Benign
1	16033642	C	T	C16033642T	CLCNKA	NM_004070.4(CLCNKA):c.2048C>T:p.Pro683Leu	coding	Benign
1	16033695	A	C	A16033695C	CLCNKA	NM_004070.4(CLCNKA):c.*37A>C	noncoding	Benign
1	16033784	A	G	A16033784G	CLCNKA	NM_004070.4(CLCNKA):c.*126A>G	noncoding	Benign
1	16044169	T	G	T16044169G	CLCNKB	NM_000085.5(CLCNKB):c.-8+289T>G	noncoding	Benign
1	16044182	G	C	G16044182C	CLCNKB	NM_000085.5(CLCNKB):c.-8+302G>C	noncoding	Benign
1	16044217	T	C	T16044217C	CLCNKB	NM_000085.5(CLCNKB):c.-7-269T>C	noncoding	Benign
1	16044246	C	T	C16044246T	CLCNKB	NM_000085.5(CLCNKB):c.-7-240C>T	noncoding	Benign
1	16044296	C	G	C16044296G	CLCNKB	NM_000085.5(CLCNKB):c.-7-190C>G	noncoding	Benign
1	16044404	G	A	G16044404A	CLCNKB	NM_000085.5(CLCNKB):c.-7-82G>A	noncoding	Benign
1	16045377	C	G	C16045377G	CLCNKB	NM_000085.5(CLCNKB):c.101-181C>G	noncoding	Benign
1	16045437	A	C	A16045437C	CLCNKB	NM_000085.5(CLCNKB):c.101-121A>C	noncoding	Benign
1	16045508	G	C	G16045508C	CLCNKB	NM_000085.5(CLCNKB):c.101-50G>C	noncoding	Benign
1	16045788	T	G	T16045788G	CLCNKB	NM_000085.5(CLCNKB):c.229+102T>G	noncoding	Benign
1	16046313	G	A	G16046313A	CLCNKB	NM_000085.5(CLCNKB):c.230-222G>A	noncoding	Benign
1	16046416	G	A	G16046416A	CLCNKB	NM_000085.5(CLCNKB):c.230-119G>A	noncoding	Benign
1	16046476	G	A	G16046476A	CLCNKB	NM_000085.5(CLCNKB):c.230-59G>A	noncoding	Benign
1	16046579	C	T	C16046579T	CLCNKB	NM_000085.5(CLCNKB):c.274C>T:p.Arg92Trp	coding	Pathogenic
1	16046683	G	A	G16046683A	CLCNKB	NM_000085.5(CLCNKB):c.358+20G>A	noncoding	Benign
1	16046787	A	G	A16046787G	CLCNKB	NM_000085.5(CLCNKB):c.358+124A>G	noncoding	Benign
1	16047835	A	G	A16047835G	CLCNKB	NM_000085.5(CLCNKB):c.359-70A>G	noncoding	Benign
1	16048095	C	T	C16048095T	CLCNKB	NM_000085.5(CLCNKB):c.498+51C>T	noncoding	Benign
1	16048127	C	G	C16048127G	CLCNKB	NM_000085.5(CLCNKB):c.498+83C>G	noncoding	Benign
1	16048161	A	G	A16048161G	CLCNKB	NM_000085.5(CLCNKB):c.498+117A>G	noncoding	Benign
1	16048352	G	A	G16048352A	CLCNKB	NM_000085.5(CLCNKB):c.508G>A:p.Val170Met	coding	Pathogenic
1	16048477	T	G	T16048477G	CLCNKB	NM_000085.5(CLCNKB):c.577-27T>G	noncoding	Benign
1	16048637	C	T	C16048637T	CLCNKB	NM_000085.5(CLCNKB):c.655+55C>T	noncoding	Benign
1	16048715	G	A	G16048715A	CLCNKB	NM_000085.5(CLCNKB):c.655+133G>A	noncoding	Benign
1	16048859	C	T	C16048859T	CLCNKB	NM_000085.5(CLCNKB):c.656-261C>T	coding	Benign
1	16049106	A	T	A16049106T	CLCNKB	NM_000085.5(CLCNKB):c.656-14A>T	coding	Benign
1	16049343	C	G	C16049343G	CLCNKB	NM_000085.5(CLCNKB):c.781+98C>G	noncoding	Benign
1	16049378	C	T	C16049378T	CLCNKB	NM_000085.5(CLCNKB):c.781+133C>T	noncoding	Benign
1	16049471	G	A	G16049471A	CLCNKB	NM_000085.5(CLCNKB):c.782-147G>A	noncoding	Benign
1	16049543	G	C	G16049543C	CLCNKB	NM_000085.5(CLCNKB):c.782-75G>C	noncoding	Benign
1	16049600	A	G	A16049600G	CLCNKB	NM_000085.5(CLCNKB):c.782-18A>G	noncoding	Benign
1	16049737	A	T	A16049737T	CLCNKB	NM_000085.5(CLCNKB):c.866+35A>T	noncoding	Benign
1	16049783	G	A	G16049783A	CLCNKB	NM_000085.5(CLCNKB):c.867-32G>A	noncoding	Benign
1	16049917	G	A	G16049917A	CLCNKB	NM_000085.5(CLCNKB):c.968+1G>A	coding	Pathogenic/Likely_pathogenic
1	16049952	G	A	G16049952A	CLCNKB	NM_000085.5(CLCNKB):c.968+36G>A	noncoding	Benign
1	16049999	C	G	C16049999G	CLCNKB	NM_000085.5(CLCNKB):c.968+83C>G	noncoding	Benign
1	16050064	A	G	A16050064G	CLCNKB	NM_000085.5(CLCNKB):c.968+148A>G	noncoding	Benign
1	16050224	A	G	A16050224G	CLCNKB	NM_000085.5(CLCNKB):c.969-292A>G	noncoding	Benign
1	16050297	C	G	C16050297G	CLCNKB	NM_000085.5(CLCNKB):c.969-219C>G	noncoding	Benign
1	16050321	C	G	C16050321G	CLCNKB	NM_000085.5(CLCNKB):c.969-195C>G	noncoding	Benign
1	16050336	C	T	C16050336T	CLCNKB	NM_000085.5(CLCNKB):c.969-180C>T	noncoding	Benign
1	16050458	C	T	C16050458T	CLCNKB	NM_000085.5(CLCNKB):c.969-58C>T	noncoding	Benign
1	16050598	C	T	C16050598T	CLCNKB	NM_000085.5(CLCNKB):c.1051C>T:p.Arg351Trp	coding	Pathogenic
1	16050868	G	A	G16050868A	CLCNKB	NM_000085.5(CLCNKB):c.1054-7G>A	noncoding	Benign
1	16050975	A	G	A16050975G	CLCNKB	NM_000085.5(CLCNKB):c.1154A>G:p.Gln385Arg	coding	Benign
1	16050984	G	A	G16050984A	CLCNKB	NM_000085.5(CLCNKB):c.1163G>A:p.Trp388Ter	coding	Pathogenic
1	16051004	C	T	C16051004T	CLCNKB	NM_000085.5(CLCNKB):c.1183C>T:p.Arg395Trp	coding	Benign
1	16051375	C	T	C16051375T	CLCNKB	NM_000085.5(CLCNKB):c.1228-103C>T	noncoding	Benign
1	16051440	A	G	A16051440G	CLCNKB	NM_000085.5(CLCNKB):c.1228-38A>G	noncoding	Benign
1	16051598	A	G	A16051598G	CLCNKB	NM_000085.5(CLCNKB):c.1297+51A>G	noncoding	Benign
1	16051604	G	C	G16051604C	CLCNKB	NM_000085.5(CLCNKB):c.1297+57G>C	noncoding	Benign
1	16051605	C	A	C16051605A	CLCNKB	NM_000085.5(CLCNKB):c.1297+58C>A	noncoding	Benign
1	16051836	G	C	G16051836C	CLCNKB	NM_000085.5(CLCNKB):c.1408+16G>C	noncoding	Benign
1	16051844	C	G	C16051844G	CLCNKB	NM_000085.5(CLCNKB):c.1408+24C>G	noncoding	Benign
1	16051936	C	T	C16051936T	CLCNKB	NM_000085.5(CLCNKB):c.1408+116C>T	noncoding	Benign
1	16052000	G	A	G16052000A	CLCNKB	NM_000085.5(CLCNKB):c.1408+180G>A	noncoding	Benign
1	16052154	C	G	C16052154G	CLCNKB	NM_000085.5(CLCNKB):c.1409-44C>G	noncoding	Benign
1	16052436	A	G	A16052436G	CLCNKB	NM_000085.5(CLCNKB):c.1622+25A>G	noncoding	Benign
1	16052443	G	A	G16052443A	CLCNKB	NM_000085.5(CLCNKB):c.1622+32G>A	noncoding	Benign
1	16052450	C	T	C16052450T	CLCNKB	NM_000085.5(CLCNKB):c.1622+39C>T	noncoding	Benign
1	16052456	T	C	T16052456C	CLCNKB	NM_000085.5(CLCNKB):c.1622+45T>C	noncoding	Benign
1	16052459	G	A	G16052459A	CLCNKB	NM_000085.5(CLCNKB):c.1622+48G>A	noncoding	Benign
1	16052485	G	C	G16052485C	CLCNKB	NM_000085.5(CLCNKB):c.1622+74G>C	noncoding	Benign
1	16052496	G	A	G16052496A	CLCNKB	NM_000085.5(CLCNKB):c.1622+85G>A	noncoding	Benign
1	16052503	T	C	T16052503C	CLCNKB	NM_000085.5(CLCNKB):c.1622+92T>C	noncoding	Benign
1	16052511	C	T	C16052511T	CLCNKB	NM_000085.5(CLCNKB):c.1622+100C>T	noncoding	Benign
1	16052513	C	T	C16052513T	CLCNKB	NM_000085.5(CLCNKB):c.1622+102C>T	noncoding	Benign
1	16052521	G	A	G16052521A	CLCNKB	NM_000085.5(CLCNKB):c.1622+110G>A	noncoding	Benign
1	16052557	C	G	C16052557G	CLCNKB	NM_000085.5(CLCNKB):c.1622+146C>G	noncoding	Benign
1	16052640	G	A	G16052640A	CLCNKB	NM_000085.5(CLCNKB):c.1622+229G>A	noncoding	Benign
1	16052678	C	T	C16052678T	CLCNKB	NM_000085.5(CLCNKB):c.1622+267C>T	noncoding	Benign
1	16053328	G	A	G16053328A	CLCNKB	NM_000085.5(CLCNKB):c.1623-311G>A	noncoding	Benign
1	16053842	G	A	G16053842A	CLCNKB	NM_000085.5(CLCNKB):c.1756+70G>A	noncoding	Benign
1	16053898	G	A	G16053898A	CLCNKB	NM_000085.5(CLCNKB):c.1756+126G>A	noncoding	Benign
1	16053908	A	T	A16053908T	CLCNKB	NM_000085.5(CLCNKB):c.1756+136A>T	noncoding	Benign
1	16053993	G	A	G16053993A	CLCNKB	NM_000085.5(CLCNKB):c.1756+221G>A	noncoding	Benign
1	16054065	G	A	G16054065A	CLCNKB	NM_000085.5(CLCNKB):c.1756+293G>A	noncoding	Benign
1	16054087	C	T	C16054087T	CLCNKB	NM_000085.5(CLCNKB):c.1756+315C>T	noncoding	Benign
1	16055223	T	C	T16055223C	CLCNKB	NM_000085.5(CLCNKB):c.1757-212T>C	noncoding	Benign
1	16055227	C	T	C16055227T	CLCNKB	NM_000085.5(CLCNKB):c.1757-208C>T	noncoding	Benign
1	16055297	T	A	T16055297A	CLCNKB	NM_000085.5(CLCNKB):c.1757-138T>A	noncoding	Benign
1	16055321	C	T	C16055321T	CLCNKB	NM_000085.5(CLCNKB):c.1757-114C>T	noncoding	Benign
1	16055591	C	T	C16055591T	CLCNKB	NM_000085.5(CLCNKB):c.1845+68C>T	noncoding	Benign
1	16055763	C	T	C16055763T	CLCNKB	NM_000085.5(CLCNKB):c.1929+5C>T	noncoding	Benign
1	16056010	T	C	T16056010C	CLCNKB	NM_000085.5(CLCNKB):c.1929+252T>C	noncoding	Benign
1	16056154	T	C	T16056154C	CLCNKB	NM_000085.5(CLCNKB):c.1930-268T>C	noncoding	Benign
1	16056183	C	G	C16056183G	CLCNKB	NM_000085.5(CLCNKB):c.1930-239C>G	noncoding	Benign
1	16056223	T	C	T16056223C	CLCNKB	NM_000085.5(CLCNKB):c.1930-199T>C	noncoding	Benign
1	16056235	C	T	C16056235T	CLCNKB	NM_000085.5(CLCNKB):c.1930-187C>T	noncoding	Benign
1	16056296	G	C	G16056296C	CLCNKB	NM_000085.5(CLCNKB):c.1930-126G>C	noncoding	Benign
1	16056336	T	A	T16056336A	CLCNKB	NM_000085.5(CLCNKB):c.1930-86T>A	noncoding	Benign
1	16056339	T	A	T16056339A	CLCNKB	NM_000085.5(CLCNKB):c.1930-83T>A	noncoding	Benign
1	16056382	A	G	A16056382G	CLCNKB	NM_000085.5(CLCNKB):c.1930-40A>G	noncoding	Benign
1	16056385	T	A	T16056385A	CLCNKB	NM_000085.5(CLCNKB):c.1930-37T>A	noncoding	Benign
1	16056527	C	T	C16056527T	CLCNKB	NM_000085.5(CLCNKB):c.2016+19C>T	noncoding	Benign
1	16056542	A	G	A16056542G	CLCNKB	NM_000085.5(CLCNKB):c.2016+34A>G	noncoding	Benign
1	16056589	G	A	G16056589A	CLCNKB	NM_000085.5(CLCNKB):c.2016+81G>A	noncoding	Benign
1	16056765	A	G	A16056765G	CLCNKB	NM_000085.5(CLCNKB):c.2017-104A>G	noncoding	Benign
1	16056772	A	G	A16056772G	CLCNKB	NM_000085.5(CLCNKB):c.2017-97A>G	noncoding	Benign
1	16056841	G	C	G16056841C	CLCNKB	NM_000085.5(CLCNKB):c.2017-28G>C	noncoding	Benign
1	16056853	C	T	C16056853T	CLCNKB	NM_000085.5(CLCNKB):c.2017-16C>T	noncoding	Benign
1	16056953	A	C	A16056953C	CLCNKB	NM_000085.5(CLCNKB):c.*37A>C	noncoding	Benign
1	16057020	C	T	C16057020T	CLCNKB	NM_000085.5(CLCNKB):c.*104C>T	noncoding	Benign
1	16058636	C	A	C16058636A	FAM131C	NM_182623.3(FAM131C):c.644G>T:p.Ser215Ile	coding	Benign
1	16059485	G	A	G16059485A	FAM131C	NM_182623.3(FAM131C):c.562+9C>T	noncoding	Benign
1	16059513	T	C	T16059513C	FAM131C	NM_182623.3(FAM131C):c.543A>G:p.Gln181=	coding	Benign
1	16125381	G	A	G16125381A	EPHA2	NM_004431.5(EPHA2):c.2826-61C>T	noncoding	Benign
1	16129324	A	G	A16129324G	EPHA2	NM_004431.5(EPHA2):c.2825+110T>C	noncoding	Benign
1	16129681	G	A	G16129681A	EPHA2	NM_004431.5(EPHA2):c.2670-92C>T	noncoding	Benign
1	16130536	G	A	G16130536A	EPHA2	NM_004431.5(EPHA2):c.2476-117C>T	noncoding	Benign
1	16131594	T	A	T16131594A	EPHA2	NM_004431.5(EPHA2):c.2475+127A>T	noncoding	Benign
1	16131692	A	G	A16131692G	EPHA2	NM_004431.5(EPHA2):c.2475+29T>C	noncoding	Benign
1	16132319	C	T	C16132319T	EPHA2	NM_004431.5(EPHA2):c.2116-46G>A	noncoding	Benign
1	16132353	C	T	C16132353T	EPHA2	NM_004431.5(EPHA2):c.2115+25G>A	noncoding	Benign
1	16133012	T	A	T16133012A	EPHA2	NM_004431.5(EPHA2):c.2053+168A>T	noncoding	Benign
1	16133142	C	T	C16133142T	EPHA2	NM_004431.5(EPHA2):c.2053+38G>A	noncoding	Benign
1	16134046	T	C	T16134046C	EPHA2	NM_004431.5(EPHA2):c.1683-131A>G	noncoding	Benign
1	16134201	G	A	G16134201A	EPHA2	NM_004431.5(EPHA2):c.1682+267C>T	noncoding	Benign
1	16134345	G	A	G16134345A	EPHA2	NM_004431.5(EPHA2):c.1682+123C>T	noncoding	Benign
1	16134626	G	A	G16134626A	EPHA2	NM_004431.5(EPHA2):c.1583-59C>T	noncoding	Benign
1	16134725	G	T	G16134725T	EPHA2	NM_004431.5(EPHA2):c.1583-158C>A	noncoding	Benign
1	16135139	G	A	G16135139A	EPHA2	NM_004431.5(EPHA2):c.1479C>T:p.Thr493=	coding	Benign
1	16135193	T	C	T16135193C	EPHA2	NM_004431.5(EPHA2):c.1429-4A>G	noncoding	Benign
1	16135505	G	A	G16135505A	EPHA2	NM_004431.5(EPHA2):c.1428+150C>T	noncoding	Benign
1	16135790	G	A	G16135790A	EPHA2	NM_004431.5(EPHA2):c.1313-20C>T	noncoding	Benign
1	16137765	T	C	T16137765C	EPHA2	NM_004431.5(EPHA2):c.1312+88A>G	noncoding	Benign
1	16148206	G	A	G16148206A	EPHA2	NM_004431.5(EPHA2):c.823+172C>T	noncoding	Benign
1	16148712	C	T	C16148712T	EPHA2	NM_004431.5(EPHA2):c.489G>A:p.Leu163=	coding	Benign/Likely_benign
1	16149318	G	C	G16149318C	EPHA2	NM_004431.5(EPHA2):c.154-271C>G	noncoding	Benign
1	16155892	C	T	C16155892T	EPHA2	NM_004431.5(EPHA2):c.41G>A:p.Trp14Ter	coding	Pathogenic
1	16986101	T	A	T16986101A	ATP13A2	NM_022089.4(ATP13A2):c.*120A>T	coding	Benign/Likely_benign
1	16986372	G	A	G16986372A	ATP13A2	NM_022089.4(ATP13A2):c.3406-14C>T	noncoding	Benign/Likely_benign
1	16986719	G	A	G16986719A	ATP13A2	NM_022089.4(ATP13A2):c.3235+86C>T	noncoding	Benign
1	16986904	C	A	C16986904A	ATP13A2	NM_022089.4(ATP13A2):c.3136G>T:p.Glu1046Ter	coding	Pathogenic
1	16987187	G	A	G16987187A	ATP13A2	NM_022089.4(ATP13A2):c.2942C>T:p.Thr981Met	coding	Benign/Likely_benign
1	16987578	A	G	A16987578G	ATP13A2	NM_022089.4(ATP13A2):c.2860-309T>C	noncoding	Benign
1	16991570	T	C	T16991570C	ATP13A2	NM_022089.4(ATP13A2):c.2251+164A>G	noncoding	Benign
1	16991834	G	A	G16991834A	ATP13A2	NM_022089.4(ATP13A2):c.2151C>T:p.Ser717=	coding	Benign/Likely_benign
1	16992792	C	T	C16992792T	ATP13A2	NM_022089.4(ATP13A2):c.1750-211G>A	noncoding	Benign
1	16996703	A	T	A16996703T	ATP13A2	NM_022089.4(ATP13A2):c.1196-207T>A	noncoding	Benign
1	16996773	G	A	G16996773A	ATP13A2	NM_022089.4(ATP13A2):c.1195+247C>T	noncoding	Benign
1	16996938	C	T	C16996938T	ATP13A2	NM_022089.4(ATP13A2):c.1195+82G>A	noncoding	Benign
1	16996954	T	C	T16996954C	ATP13A2	NM_022089.4(ATP13A2):c.1195+66A>G	noncoding	Benign
1	16997424	T	G	T16997424G	ATP13A2	NM_022089.4(ATP13A2):c.1040-249A>C	noncoding	Benign
1	16997483	T	C	T16997483C	ATP13A2	NM_022089.4(ATP13A2):c.1040-308A>G	noncoding	Benign
1	17000210	A	C	A17000210C	ATP13A2	NM_022089.4(ATP13A2):c.907+36T>G	noncoding	Benign
1	17000548	G	A	G17000548A	ATP13A2	NM_022089.4(ATP13A2):c.706-14C>T	noncoding	Benign/Likely_benign
1	17002051	G	A	G17002051A	ATP13A2	NM_022089.4(ATP13A2):c.688C>T:p.Gln230Ter	coding	Pathogenic
1	17002281	C	T	C17002281T	ATP13A2	NM_022089.4(ATP13A2):c.635+15G>A	noncoding	Benign
1	17002312	G	A	G17002312A	ATP13A2	NM_022089.4(ATP13A2):c.619C>T:p.Gln207Ter	coding	Pathogenic
1	17004941	G	C	G17004941C	ATP13A2	NM_022089.4(ATP13A2):c.347+73C>G	noncoding	Benign
1	17005181	A	G	A17005181G	ATP13A2	NM_022089.4(ATP13A2):c.289-109T>C	noncoding	Benign
1	17011965	G	A	G17011965A	ATP13A2	Single_allele	noncoding	Benign
1	17018618	G	C	G17018618C	SDHB	Single_allele	noncoding	Benign
1	17022352	G	C	G17022352C	SDHB	NM_003000.3(SDHB):c.765+256C>G	noncoding	Benign
1	17022607	C	T	C17022607T	SDHB	NM_003000.3(SDHB):c.765+1G>A	noncoding	Pathogenic
1	17022646	A	G	A17022646G	SDHB	NM_003000.3(SDHB):c.727T>C:p.Cys243Arg	coding	Pathogenic
1	17022724	G	A	G17022724A	SDHB	NM_003000.3(SDHB):c.649C>T:p.Arg217Cys	coding	Pathogenic/Likely_pathogenic
1	17023743	A	G	A17023743G	SDHB	NM_003000.3(SDHB):c.642+230T>C	noncoding	Benign
1	17023748	T	C	T17023748C	SDHB	NM_003000.3(SDHB):c.642+225A>G	noncoding	Benign
1	17024018	G	C	G17024018C	SDHB	NM_003000.3(SDHB):c.597C>G:p.Tyr199Ter	coding	Pathogenic
1	17024025	G	C	G17024025C	SDHB	NM_003000.3(SDHB):c.590C>G:p.Pro197Arg	coding	Pathogenic/Likely_pathogenic
1	17024043	C	T	C17024043T	SDHB	NM_003000.3(SDHB):c.572G>A:p.Cys191Tyr	coding	Pathogenic/Likely_pathogenic
1	17024063	G	A	G17024063A	SDHB	NM_003000.3(SDHB):c.552C>T:p.Tyr184=	coding	Benign/Likely_benign
1	17024117	G	C	G17024117C	SDHB	NM_003000.3(SDHB):c.541-43C>G	noncoding	Benign
1	17027493	T	G	T17027493G	SDHB	NM_003000.3(SDHB):c.540+256A>C	noncoding	Benign
1	17027531	G	A	G17027531A	SDHB	NM_003000.3(SDHB):c.540+218C>T	noncoding	Benign
1	17027805	C	A	C17027805A	SDHB	NM_003000.3(SDHB):c.484G>T:p.Glu162Ter	coding	Pathogenic
1	17027839	G	C	G17027839C	SDHB	NM_003000.3(SDHB):c.450C>G:p.Tyr150Ter	coding	Pathogenic
1	17028517	G	T	G17028517T	SDHB	NM_003000.3(SDHB):c.423+83C>A	noncoding	Benign
1	17028628	T	G	T17028628G	SDHB	NM_003000.3(SDHB):c.395A>C:p.His132Pro	coding	Pathogenic/Likely_pathogenic
1	17028740	A	G	A17028740G	SDHB	NM_003000.3(SDHB):c.287-4T>C	noncoding	Benign/Likely_benign
1	17028892	T	C	T17028892C	SDHB	NM_003000.3(SDHB):c.287-156A>G	noncoding	Benign
1	17032891	T	C	T17032891C	SDHB	NM_003000.3(SDHB):c.286+169A>G	noncoding	Benign
1	17033060	C	T	C17033060T	SDHB	NM_003000.3(SDHB):c.286G>A:p.Gly96Ser	coding	Pathogenic/Likely_pathogenic
1	17033068	C	T	C17033068T	SDHB	NM_003000.3(SDHB):c.278G>A:p.Cys93Tyr	coding	Pathogenic
1	17033086	A	G	A17033086G	SDHB	NM_003000.3(SDHB):c.260T>C:p.Leu87Ser	coding	Pathogenic/Likely_pathogenic
1	17033125	T	G	T17033125G	SDHB	NM_003000.3(SDHB):c.221A>C:p.Asp74Ala	coding	Pathogenic/Likely_pathogenic
1	17033140	C	A	C17033140A	SDHB	NM_003000.3(SDHB):c.206G>T:p.Gly69Val	coding	Pathogenic
1	17044657	T	C	T17044657C	SDHB	NM_003000.3(SDHB):c.200+104A>G	noncoding	Benign
1	17044760	C	T	C17044760T	SDHB	NM_003000.3(SDHB):c.200+1G>A	noncoding	Pathogenic
1	17044818	T	A	T17044818A	SDHB	NM_003000.3(SDHB):c.143A>T:p.Asp48Val	coding	Pathogenic/Likely_pathogenic
1	17044889	C	T	C17044889T	SDHB	NM_003000.3(SDHB):c.73-1G>A	coding	Pathogenic/Likely_pathogenic
1	17044999	C	T	C17044999T	SDHB	NM_003000.3(SDHB):c.73-111G>A	noncoding	Benign
1	17045091	T	C	T17045091C	SDHB	NM_003000.3(SDHB):c.73-203A>G	noncoding	Benign
1	17045190	C	T	C17045190T	SDHB	NM_003000.3(SDHB):c.73-302G>A	noncoding	Benign
1	18700745	A	G	A18700745G	PAX7	NM_001135254.2(PAX7):c.879A>G:p.Pro293=	coding	Benign
1	18872979	T	A	T18872979A	ALDH4A1	NM_003748.4(ALDH4A1):c.1580-22A>T	noncoding	Benign
1	18874414	G	C	G18874414C	ALDH4A1	NM_003748.4(ALDH4A1):c.1579+49C>G	noncoding	Benign
1	18874690	G	A	G18874690A	ALDH4A1	NM_003748.4(ALDH4A1):c.1461-109C>T	noncoding	Benign
1	18876276	T	C	T18876276C	ALDH4A1	NM_003748.4(ALDH4A1):c.1338+39A>G	noncoding	Benign
1	18877660	G	A	G18877660A	ALDH4A1	NM_003748.4(ALDH4A1):c.941-48C>T	noncoding	Benign
1	18877679	A	G	A18877679G	ALDH4A1	NM_003748.4(ALDH4A1):c.941-67T>C	noncoding	Benign
1	18883049	A	G	A18883049G	ALDH4A1	NM_003748.4(ALDH4A1):c.678+75T>C	noncoding	Benign
1	18883265	C	T	C18883265T	ALDH4A1	NM_003748.4(ALDH4A1):c.603+14G>A	coding	Benign/Likely_benign
1	18886528	G	A	G18886528A	ALDH4A1	NM_003748.4(ALDH4A1):c.250-17C>T	noncoding	Benign
1	18889340	T	C	T18889340C	ALDH4A1	NM_003748.4(ALDH4A1):c.249+22A>G	noncoding	Benign
1	18890029	G	A	G18890029A	ALDH4A1	NM_003748.4(ALDH4A1):c.139C>T:p.Arg47Ter	coding	Pathogenic
1	19088810	C	T	C19088810T	UBR4	NM_020765.3(UBR4):c.14379G>A:p.Lys4793=	coding	Benign
1	19121349	C	G	C19121349G	UBR4	NM_020765.3(UBR4):c.9981G>C:p.Leu3327=	coding	Benign
1	19165363	T	C	T19165363C	UBR4	NM_020765.3(UBR4):c.4212-14A>G	noncoding	Benign
1	19222636	G	A	G19222636A	EMC1	NM_015047.3(EMC1):c.2575C>T:p.Arg859Ter	coding	Pathogenic
1	19222708	G	A	G19222708A	EMC1	NM_015047.3(EMC1):c.2503C>T:p.Gln835Ter	coding	Pathogenic
1	19222849	G	C	G19222849C	EMC1	NM_015047.3(EMC1):c.2377-15C>G	noncoding	Benign
1	19223370	T	C	T19223370C	EMC1	NM_015047.3(EMC1):c.2376+26A>G	noncoding	Benign
1	19223495	G	A	G19223495A	EMC1	NM_015047.3(EMC1):c.2277C>T:p.Ile759=	coding	Benign
1	19223543	C	T	C19223543T	EMC1	NM_015047.3(EMC1):c.2229G>A:p.Val743=	coding	Benign
1	19227402	G	A	G19227402A	EMC1	NM_015047.3(EMC1):c.2113C>T:p.Gln705Ter	coding	Pathogenic
1	19230849	G	A	G19230849A	EMC1	NM_015047.3(EMC1):c.2059C>T:p.Arg687Ter	coding	Pathogenic
1	19230930	G	A	G19230930A	EMC1	NM_015047.3(EMC1):c.1978C>T:p.Arg660Ter	coding	Pathogenic
1	19231399	A	C	A19231399C	EMC1	NM_015047.3(EMC1):c.1806T>G:p.Tyr602Ter	coding	Pathogenic
1	19232613	G	C	G19232613C	EMC1	NM_015047.3(EMC1):c.1782+11C>G	noncoding	Benign
1	19233086	C	T	C19233086T	EMC1	NM_015047.3(EMC1):c.1482G>A:p.Leu494=	coding	Benign
1	19235124	T	C	T19235124C	EMC1	NM_015047.3(EMC1):c.1432+6A>G	noncoding	Benign
1	19235161	G	A	G19235161A	EMC1	NM_015047.3(EMC1):c.1401C>T:p.Ala467=	coding	Benign
1	19238095	G	T	G19238095T	EMC1	NM_015047.3(EMC1):c.1134C>A:p.Tyr378Ter	coding	Pathogenic/Likely_pathogenic
1	19238156	C	G	C19238156G	EMC1	NM_015047.3(EMC1):c.1090-17G>C	noncoding	Benign
1	19238844	C	T	C19238844T	EMC1	NM_015047.3(EMC1):c.1040G>A:p.Ser347Asn	coding	Benign
1	19238850	C	G	C19238850G	EMC1	NM_015047.3(EMC1):c.1034G>C:p.Ser345Thr	coding	Benign
1	19239802	T	C	T19239802C	EMC1	NM_015047.3(EMC1):c.954+16A>G	noncoding	Benign
1	19239857	G	C	G19239857C	EMC1	NM_015047.3(EMC1):c.915C>G:p.Tyr305Ter	coding	Pathogenic
1	19239888	A	G	A19239888G	EMC1	NM_015047.3(EMC1):c.884T>C:p.Leu295Ser	coding	Benign
1	19239975	A	C	A19239975C	EMC1	NM_015047.3(EMC1):c.797T>G:p.Leu266Ter	coding	Pathogenic
1	19239998	A	G	A19239998G	EMC1	NM_015047.3(EMC1):c.787-13T>C	noncoding	Benign
1	19240387	C	T	C19240387T	EMC1	NM_015047.3(EMC1):c.696G>A:p.Glu232=	coding	Benign
1	19240463	G	A	G19240463A	EMC1	NM_015047.3(EMC1):c.637-17C>T	noncoding	Benign
1	19242428	G	T	G19242428T	EMC1	NM_015047.3(EMC1):c.426C>A:p.Tyr142Ter	coding	Pathogenic
1	19242478	A	G	A19242478G	EMC1	NM_015047.3(EMC1):c.381-5T>C	noncoding	Benign
1	19243598	C	T	C19243598T	EMC1	NM_015047.3(EMC1):c.380+16G>A	noncoding	Benign
1	19243652	G	A	G19243652A	EMC1	NM_015047.3(EMC1):c.342C>T:p.Ile114=	coding	Benign
1	19243664	C	T	C19243664T	EMC1	NM_015047.3(EMC1):c.330G>A:p.Trp110Ter	coding	Pathogenic
1	19243681	G	A	G19243681A	EMC1	NM_015047.3(EMC1):c.313C>T:p.Arg105Ter	coding	Pathogenic
1	19243932	C	G	C19243932G	EMC1	NM_015047.3(EMC1):c.286+18G>C	noncoding	Benign
1	19243932	C	T	C19243932T	EMC1	NM_015047.3(EMC1):c.286+18G>A	noncoding	Benign
1	19244921	G	A	G19244921A	EMC1	NM_015047.3(EMC1):c.205C>T:p.Arg69Ter	coding	Pathogenic
1	19251508	A	C	A19251508C	EMC1	NM_015047.3(EMC1):c.2T>G:p.Met1Arg	coding	Pathogenic/Likely_pathogenic
1	19251559	C	G	C19251559G	EMC1	Single_allele	noncoding	Benign
1	20084839	C	T	C20084839T	PLA2G5	NM_000929.3(PLA2G5):c.9C>T:p.Gly3=	coding	Benign
1	20086186	C	T	C20086186T	PLA2G5	NM_000929.3(PLA2G5):c.144C>T:p.Cys48=	coding	Benign
1	20086230	G	A	G20086230A	PLA2G5	NM_000929.3(PLA2G5):c.185+3G>A	noncoding	Benign
1	20089914	G	A	G20089914A	PLA2G5	NM_000929.3(PLA2G5):c.292+19G>A	noncoding	Benign
1	20633253	T	C	T20633253C	PINK1	Single_allele	noncoding	Benign
1	20633798	C	T	C20633798T	PINK1	NM_032409.3(PINK1):c.250C>T:p.Gln84Ter	coding	Pathogenic
1	20633949	G	A	G20633949A	PINK1	NM_032409.3(PINK1):c.387+14G>A	noncoding	Benign/Likely_benign
1	20633955	A	G	A20633955G	PINK1	NM_032409.3(PINK1):c.387+20A>G	noncoding	Benign
1	20637573	G	A	G20637573A	PINK1	NM_032409.3(PINK1):c.388-269G>A	noncoding	Benign
1	20637777	C	G	C20637777G	PINK1	NM_032409.3(PINK1):c.388-65C>G	noncoding	Benign
1	20638120	G	A	G20638120A	PINK1	NM_032409.3(PINK1):c.666G>A:p.Trp222Ter	coding	Pathogenic
1	20638296	A	T	A20638296T	PINK1	NM_032409.3(PINK1):c.675+167A>T	noncoding	Benign
1	20639593	G	A	G20639593A	PINK1	NM_032409.3(PINK1):c.676-299G>A	noncoding	Benign
1	20639652	T	C	T20639652C	PINK1	NM_032409.3(PINK1):c.676-240T>C	noncoding	Benign
1	20639815	G	A	G20639815A	PINK1	NM_032409.3(PINK1):c.676-77G>A	noncoding	Benign
1	20644971	C	T	C20644971T	PINK1	NM_032409.3(PINK1):c.959+299C>T	noncoding	Benign
1	20645505	C	A	C20645505A	PINK1	NM_032409.3(PINK1):c.960-55C>A	noncoding	Benign
1	20645506	G	A	G20645506A	PINK1	NM_032409.3(PINK1):c.960-54G>A	noncoding	Benign
1	20645847	G	A	G20645847A	PINK1	NM_032409.3(PINK1):c.1123+124G>A	noncoding	Benign
1	20648309	A	G	A20648309G	PINK1	NM_032409.3(PINK1):c.1124-196A>G	noncoding	Benign
1	20648675	C	T	C20648675T	PINK1	NM_032409.3(PINK1):c.1251+43C>T	coding	Benign
1	20648970	T	C	T20648970C	PINK1	NM_032409.3(PINK1):c.1252-25T>C	coding	Benign
1	20649527	G	A	G20649527A	PINK1	NM_032409.3(PINK1):c.1488+296G>A	coding	Benign
1	20650266	C	T	C20650266T	PINK1	NM_032409.3(PINK1):c.1489-168C>T	coding	Benign
1	20650731	G	A	G20650731A	PINK1	NM_032409.3(PINK1):c.*40G>A	noncoding	Benign/Likely_benign
1	20652915	G	A	G20652915A	DDOST	NM_005216.5(DDOST):c.999C>T:p.Gly333=	coding	Benign/Likely_benign
1	20653080	C	T	C20653080T	DDOST	NM_005216.5(DDOST):c.943-109G>A	noncoding	Benign
1	20653087	T	G	T20653087G	DDOST	NM_005216.5(DDOST):c.943-116A>C	noncoding	Benign
1	20653325	A	T	A20653325T	DDOST	NM_005216.5(DDOST):c.942+302T>A	noncoding	Benign
1	20653957	G	T	G20653957T	DDOST	NM_005216.5(DDOST):c.795-183C>A	noncoding	Benign
1	20654429	G	A	G20654429A	DDOST	NM_005216.5(DDOST):c.646-58C>T	noncoding	Benign
1	20655152	G	T	G20655152T	DDOST	NM_005216.5(DDOST):c.551+288C>A	noncoding	Benign
1	20655178	T	G	T20655178G	DDOST	NM_005216.5(DDOST):c.551+262A>C	noncoding	Benign
1	20655180	T	G	T20655180G	DDOST	NM_005216.5(DDOST):c.551+260A>C	noncoding	Benign
1	20655185	T	G	T20655185G	DDOST	NM_005216.5(DDOST):c.551+255A>C	noncoding	Benign
1	20655186	T	G	T20655186G	DDOST	NM_005216.5(DDOST):c.551+254A>C	noncoding	Benign
1	20655275	G	T	G20655275T	DDOST	NM_005216.5(DDOST):c.551+165C>A	noncoding	Benign
1	20655313	G	A	G20655313A	DDOST	NM_005216.5(DDOST):c.551+127C>T	noncoding	Benign
1	20655790	C	G	C20655790G	DDOST	NM_005216.5(DDOST):c.353-11G>C	noncoding	Benign/Likely_benign
1	20655912	G	A	G20655912A	DDOST	NM_005216.5(DDOST):c.353-133C>T	noncoding	Benign
1	20656420	T	C	T20656420C	DDOST	NM_005216.5(DDOST):c.266-233A>G	noncoding	Benign
1	20661163	C	T	C20661163T	DDOST	NM_005216.5(DDOST):c.154+34G>A	noncoding	Benign
1	20661178	C	G	C20661178G	DDOST	NM_005216.5(DDOST):c.154+19G>C	noncoding	Benign
1	20661315	G	C	G20661315C	DDOST	NM_005216.5(DDOST):c.36C>G:p.Leu12=	coding	Benign/Likely_benign
1	20661380	G	C	G20661380C	DDOST	NC_000001.10:g.20987873G>C	coding	Benign
1	20661840	T	C	T20661840C	DDOST	Single_allele	noncoding	Benign
1	20661854	A	G	A20661854G	DDOST	Single_allele	noncoding	Benign
1	21554082	A	G	A21554082G	ALPL	NM_000478.6(ALPL):c.1A>G:p.Met1Val	coding	Pathogenic
1	21560326	C	T	C21560326T	ALPL	NM_000478.6(ALPL):c.62-300C>T	noncoding	Benign
1	21560658	C	T	C21560658T	ALPL	NM_000478.6(ALPL):c.94C>T:p.Gln32Ter	coding	Pathogenic/Likely_pathogenic
1	21560694	C	T	C21560694T	ALPL	NM_000478.6(ALPL):c.130C>T:p.Gln44Ter	coding	Pathogenic/Likely_pathogenic
1	21560797	C	A	C21560797A	ALPL	NM_000478.6(ALPL):c.181+52C>A	noncoding	Benign
1	21560953	T	C	T21560953C	ALPL	NM_000478.6(ALPL):c.182-144T>C	noncoding	Benign
1	21561082	C	G	C21561082G	ALPL	NM_000478.6(ALPL):c.182-15C>G	noncoding	Benign/Likely_benign
1	21561095	A	G	A21561095G	ALPL	NM_000478.6(ALPL):c.182-2A>G	noncoding	Pathogenic
1	21561118	C	T	C21561118T	ALPL	NM_000478.6(ALPL):c.203C>T:p.Thr68Met	coding	Pathogenic
1	21561126	C	T	C21561126T	ALPL	NM_000478.6(ALPL):c.211C>T:p.Arg71Cys	coding	Pathogenic/Likely_pathogenic
1	21561138	G	A	G21561138A	ALPL	NM_000478.6(ALPL):c.223G>A:p.Gly75Ser	coding	Pathogenic
1	21561162	G	T	G21561162T	ALPL	NM_000478.6(ALPL):c.247G>T:p.Glu83Ter	coding	Pathogenic
1	21562847	A	G	A21562847G	ALPL	NM_000478.6(ALPL):c.298-263A>G	noncoding	Benign
1	21562888	G	A	G21562888A	ALPL	NM_000478.6(ALPL):c.298-222G>A	noncoding	Benign
1	21563013	C	T	C21563013T	ALPL	NM_000478.6(ALPL):c.298-97C>T	noncoding	Benign
1	21563111	C	T	C21563111T	ALPL	NM_000478.6(ALPL):c.299C>T:p.Thr100Met	coding	Pathogenic/Likely_pathogenic
1	21563115	C	A	C21563115A	ALPL	NM_000478.6(ALPL):c.303C>A:p.Tyr101Ter	coding	Pathogenic/Likely_pathogenic
1	21563152	G	A	G21563152A	ALPL	NM_000478.6(ALPL):c.340G>A:p.Ala114Thr	coding	Pathogenic
1	21563271	G	A	G21563271A	ALPL	NM_000478.6(ALPL):c.459G>A:p.Trp153Ter	coding	Pathogenic
1	21563406	A	G	A21563406G	ALPL	NM_000478.6(ALPL):c.472+122A>G	noncoding	Benign
1	21563893	G	A	G21563893A	ALPL	NM_000478.6(ALPL):c.473-148G>A	noncoding	Benign
1	21563971	A	G	A21563971G	ALPL	NM_000478.6(ALPL):c.473-70A>G	noncoding	Benign
1	21564029	C	T	C21564029T	ALPL	NM_000478.6(ALPL):c.473-12C>T	noncoding	Benign/Likely_benign
1	21564052	G	A	G21564052A	ALPL	NM_000478.6(ALPL):c.484G>A:p.Gly162Ser	coding	Pathogenic/Likely_pathogenic
1	21564098	C	T	C21564098T	ALPL	NM_000478.6(ALPL):c.530C>T:p.Ala177Val	coding	Pathogenic
1	21564100	T	C	T21564100C	ALPL	NM_000478.6(ALPL):c.532T>C:p.Tyr178His	coding	Pathogenic/Likely_pathogenic
1	21564102	C	A	C21564102A	ALPL	NM_000478.6(ALPL):c.534C>A:p.Tyr178Ter	coding	Pathogenic
1	21564110	C	T	C21564110T	ALPL	NM_000478.6(ALPL):c.542C>T:p.Ser181Leu	coding	Pathogenic/Likely_pathogenic
1	21564119	G	A	G21564119A	ALPL	NM_000478.6(ALPL):c.551G>A:p.Arg184Gln	coding	Pathogenic
1	21564126	G	A	G21564126A	ALPL	NM_000478.6(ALPL):c.558G>A:p.Trp186Ter	coding	Pathogenic
1	21564140	A	G	A21564140G	ALPL	NM_000478.6(ALPL):c.572A>G:p.Glu191Gly	coding	Pathogenic
1	21564363	C	T	C21564363T	ALPL	NM_000478.6(ALPL):c.648+147C>T	noncoding	Benign
1	21567814	T	C	T21567814C	ALPL	NM_000478.6(ALPL):c.649-290T>C	noncoding	Benign
1	21568110	A	G	A21568110G	ALPL	NM_000478.6(ALPL):c.655A>G:p.Met219Val	coding	Pathogenic
1	21568114	G	C	G21568114C	ALPL	NM_000478.6(ALPL):c.659G>C:p.Gly220Ala	coding	Pathogenic
1	21568199	C	T	C21568199T	ALPL	NM_000478.6(ALPL):c.744C>T:p.Asp248=	coding	Benign/Likely_benign
1	21568246	A	G	A21568246G	ALPL	NM_000478.6(ALPL):c.791A>G:p.Lys264Arg	coding	Pathogenic/Likely_pathogenic
1	21568323	T	C	T21568323C	ALPL	NM_000478.6(ALPL):c.792+76T>C	noncoding	Benign
1	21568454	C	T	C21568454T	ALPL	NM_000478.6(ALPL):c.792+207C>T	noncoding	Benign
1	21568455	G	A	G21568455A	ALPL	NM_000478.6(ALPL):c.792+208G>A	noncoding	Benign
1	21568502	G	C	G21568502C	ALPL	NM_000478.6(ALPL):c.792+255G>C	noncoding	Benign
1	21568515	C	T	C21568515T	ALPL	NM_000478.6(ALPL):c.792+268C>T	noncoding	Benign
1	21568568	T	C	T21568568C	ALPL	NM_000478.6(ALPL):c.792+321T>C	noncoding	Benign
1	21570321	G	A	G21570321A	ALPL	NM_000478.6(ALPL):c.809G>A:p.Trp270Ter	coding	Pathogenic/Likely_pathogenic
1	21570327	G	A	G21570327A	ALPL	NM_000478.6(ALPL):c.815G>A:p.Arg272His	coding	Pathogenic/Likely_pathogenic
1	21570327	G	T	G21570327T	ALPL	NM_000478.6(ALPL):c.815G>T:p.Arg272Leu	coding	Pathogenic
1	21570425	G	A	G21570425A	ALPL	NM_000478.6(ALPL):c.862+51G>A	noncoding	Benign
1	21570432	C	T	C21570432T	ALPL	NM_000478.6(ALPL):c.862+58C>T	noncoding	Benign
1	21570636	T	C	T21570636C	ALPL	NM_000478.6(ALPL):c.862+262T>C	noncoding	Benign
1	21570644	G	C	G21570644C	ALPL	NM_000478.6(ALPL):c.862+270G>C	noncoding	Benign
1	21573688	C	T	C21573688T	ALPL	NM_000478.6(ALPL):c.886C>T:p.Gln296Ter	coding	Pathogenic
1	21573693	C	A	C21573693A	ALPL	NM_000478.6(ALPL):c.891C>A:p.Tyr297Ter	coding	Pathogenic/Likely_pathogenic
1	21573698	T	C	T21573698C	ALPL	NM_000478.6(ALPL):c.896T>C:p.Leu299Pro	coding	Pathogenic
1	21573733	G	A	G21573733A	ALPL	NM_000478.6(ALPL):c.931G>A:p.Glu311Lys	coding	Pathogenic/Likely_pathogenic
1	21573778	G	C	G21573778C	ALPL	NM_000478.6(ALPL):c.976G>C:p.Gly326Arg	coding	Pathogenic
1	21573782	T	G	T21573782G	ALPL	NM_000478.6(ALPL):c.980T>G:p.Phe327Cys	coding	Pathogenic/Likely_pathogenic
1	21573796	G	T	G21573796T	ALPL	NM_000478.6(ALPL):c.994G>T:p.Glu332Ter	coding	Pathogenic
1	21573799	G	T	G21573799T	ALPL	NM_000478.6(ALPL):c.997G>T:p.Gly333Ter	coding	Pathogenic
1	21573903	A	C	A21573903C	ALPL	NM_000478.6(ALPL):c.997+104A>C	noncoding	Benign
1	21573904	G	T	G21573904T	ALPL	NM_000478.6(ALPL):c.997+105G>T	noncoding	Benign
1	21573927	A	G	A21573927G	ALPL	NM_000478.6(ALPL):c.997+128A>G	noncoding	Benign
1	21573951	A	G	A21573951G	ALPL	NM_000478.6(ALPL):c.997+152A>G	noncoding	Benign
1	21573966	A	C	A21573966C	ALPL	NM_000478.6(ALPL):c.997+167A>C	noncoding	Benign
1	21574090	A	G	A21574090G	ALPL	NM_000478.6(ALPL):c.997+291A>G	noncoding	Benign
1	21574096	C	T	C21574096T	ALPL	NM_000478.6(ALPL):c.997+297C>T	noncoding	Benign
1	21575445	G	A	G21575445A	ALPL	NM_000478.6(ALPL):c.998-288G>A	noncoding	Benign
1	21575750	G	A	G21575750A	ALPL	NM_000478.6(ALPL):c.1015G>A:p.Gly339Arg	coding	Pathogenic
1	21575758	T	A	T21575758A	ALPL	NM_000478.6(ALPL):c.1023T>A:p.His341Gln	coding	Pathogenic
1	21575855	G	A	G21575855A	ALPL	NM_000478.6(ALPL):c.1120G>A:p.Val374Met	coding	Pathogenic
1	21575879	G	A	G21575879A	ALPL	NM_000478.6(ALPL):c.1144G>A:p.Val382Ile	coding	Pathogenic/Likely_pathogenic
1	21575899	C	A	C21575899A	ALPL	NM_000478.6(ALPL):c.1164C>A:p.Tyr388Ter	coding	Pathogenic
1	21575918	A	G	A21575918G	ALPL	NM_000478.6(ALPL):c.1183A>G:p.Ile395Val	coding	Pathogenic
1	21576457	C	A	C21576457A	ALPL	NM_000478.6(ALPL):c.1190-65C>A	noncoding	Benign
1	21576563	A	G	A21576563G	ALPL	NM_000478.6(ALPL):c.1231A>G:p.Thr411Ala	coding	Pathogenic
1	21576572	C	A	C21576572A	ALPL	NM_000478.6(ALPL):c.1240C>A:p.Leu414Met	coding	Pathogenic
1	21576608	G	A	G21576608A	ALPL	NM_000478.6(ALPL):c.1276G>A:p.Gly426Ser	coding	Pathogenic
1	21577291	A	G	A21577291G	ALPL	NM_000478.6(ALPL):c.1310-92A>G	noncoding	Benign
1	21577298	C	G	C21577298G	ALPL	NM_000478.6(ALPL):c.1310-85C>G	noncoding	Benign
1	21577401	C	T	C21577401T	ALPL	NM_000478.6(ALPL):c.1328C>T:p.Ala443Val	coding	Pathogenic/Likely_pathogenic
1	21577427	G	A	G21577427A	ALPL	NM_000478.6(ALPL):c.1354G>A:p.Glu452Lys	coding	Pathogenic/Likely_pathogenic
1	21577440	G	C	G21577440C	ALPL	NM_000478.6(ALPL):c.1367G>C:p.Gly456Ala	coding	Pathogenic
1	21577475	G	A	G21577475A	ALPL	NM_000478.6(ALPL):c.1402G>A:p.Ala468Thr	coding	Pathogenic
1	21577476	C	T	C21577476T	ALPL	NM_000478.6(ALPL):c.1403C>T:p.Ala468Val	coding	Pathogenic/Likely_pathogenic
1	21577490	G	A	G21577490A	ALPL	NM_000478.6(ALPL):c.1417G>A:p.Gly473Ser	coding	Pathogenic/Likely_pathogenic
1	21577499	G	A	G21577499A	ALPL	NM_000478.6(ALPL):c.1426G>A:p.Glu476Lys	coding	Pathogenic
1	21577500	A	C	A21577500C	ALPL	NM_000478.6(ALPL):c.1427A>C:p.Glu476Ala	coding	Pathogenic/Likely_pathogenic
1	21577517	C	A	C21577517A	ALPL	NM_000478.6(ALPL):c.1444C>A:p.His482Asn	coding	Pathogenic
1	21577552	C	A	C21577552A	ALPL	NM_000478.6(ALPL):c.1479C>A:p.Asn493Lys	coding	Pathogenic
1	21823506	G	A	G21823506A	HSPG2	NM_005529.7(HSPG2):c.13004-18C>T	coding	Benign
1	21823697	G	A	G21823697A	HSPG2	NM_005529.7(HSPG2):c.12922C>T:p.Gln4308Ter	coding	Pathogenic
1	21823721	T	G	T21823721G	HSPG2	NM_005529.7(HSPG2):c.12900-2A>C	coding	Pathogenic
1	21823764	C	T	C21823764T	HSPG2	NM_005529.7(HSPG2):c.12900-45G>A	coding	Benign
1	21824178	C	T	C21824178T	HSPG2	NM_005529.7(HSPG2):c.12842G>A:p.Arg4281His	coding	Benign/Likely_benign
1	21824285	G	C	G21824285C	HSPG2	NM_005529.7(HSPG2):c.12815+21C>G	coding	Benign
1	21828075	G	A	G21828075A	HSPG2	NM_005529.7(HSPG2):c.12487C>T:p.Arg4163Cys	coding	Benign
1	21828310	C	T	C21828310T	HSPG2	NM_005529.7(HSPG2):c.12354G>A:p.Thr4118=	coding	Benign
1	21828494	G	A	G21828494A	HSPG2	NM_005529.7(HSPG2):c.12238-68C>T	noncoding	Benign
1	21828591	C	A	C21828591A	HSPG2	NM_005529.7(HSPG2):c.12238-165G>T	noncoding	Benign
1	21829668	C	T	C21829668T	HSPG2	NM_005529.7(HSPG2):c.11771-64G>A	noncoding	Benign
1	21830234	G	A	G21830234A	HSPG2	NM_005529.7(HSPG2):c.11672-143C>T	noncoding	Benign
1	21830644	C	T	C21830644T	HSPG2	NM_005529.7(HSPG2):c.11671+338G>A	noncoding	Benign
1	21830972	G	A	G21830972A	HSPG2	NM_005529.7(HSPG2):c.11671+10C>T	noncoding	Benign/Likely_benign
1	21831196	G	A	G21831196A	HSPG2	NM_005529.7(HSPG2):c.11562+19C>T	noncoding	Benign
1	21831627	G	T	G21831627T	HSPG2	NM_005529.7(HSPG2):c.11352+25C>A	noncoding	Benign
1	21831870	G	A	G21831870A	HSPG2	NM_005529.7(HSPG2):c.11208-74C>T	noncoding	Benign
1	21832254	C	A	C21832254A	HSPG2	NM_005529.7(HSPG2):c.11207+241G>T	noncoding	Benign
1	21833216	G	A	G21833216A	HSPG2	NM_005529.7(HSPG2):c.11095+52C>T	noncoding	Benign
1	21833647	T	C	T21833647C	HSPG2	NM_005529.7(HSPG2):c.10831-33A>G	noncoding	Benign
1	21833655	C	T	C21833655T	HSPG2	NM_005529.7(HSPG2):c.10831-41G>A	noncoding	Benign
1	21834161	T	C	T21834161C	HSPG2	NM_005529.7(HSPG2):c.10721-236A>G	noncoding	Benign
1	21834222	T	C	T21834222C	HSPG2	NM_005529.7(HSPG2):c.10721-297A>G	noncoding	Benign
1	21834230	G	A	G21834230A	HSPG2	NM_005529.7(HSPG2):c.10721-305C>T	noncoding	Benign
1	21834377	C	T	C21834377T	HSPG2	NM_005529.7(HSPG2):c.10720+302G>A	noncoding	Benign
1	21834401	G	A	G21834401A	HSPG2	NM_005529.7(HSPG2):c.10720+278C>T	noncoding	Benign
1	21835760	C	G	C21835760G	HSPG2	NM_005529.7(HSPG2):c.10356-123G>C	noncoding	Benign
1	21836569	C	T	C21836569T	HSPG2	NM_005529.7(HSPG2):c.10355+233G>A	noncoding	Benign
1	21836660	A	C	A21836660C	HSPG2	NM_005529.7(HSPG2):c.10355+142T>G	noncoding	Benign
1	21836909	G	A	G21836909A	HSPG2	NM_005529.7(HSPG2):c.10248C>T:p.Ser3416=	coding	Benign/Likely_benign
1	21839703	C	T	C21839703T	HSPG2	NM_005529.7(HSPG2):c.9709+119G>A	noncoding	Benign
1	21839861	C	A	C21839861A	HSPG2	NM_005529.7(HSPG2):c.9670G>T:p.Glu3224Ter	coding	Pathogenic
1	21840100	A	G	A21840100G	HSPG2	NM_005529.7(HSPG2):c.9514-83T>C	noncoding	Benign
1	21840149	T	C	T21840149C	HSPG2	NM_005529.7(HSPG2):c.9514-132A>G	noncoding	Benign
1	21841495	G	T	G21841495T	HSPG2	NM_005529.7(HSPG2):c.9328+44C>A	noncoding	Benign
1	21841723	C	T	C21841723T	HSPG2	NM_005529.7(HSPG2):c.9194-50G>A	noncoding	Benign
1	21841783	G	T	G21841783T	HSPG2	NM_005529.7(HSPG2):c.9194-110C>A	noncoding	Benign
1	21841817	A	G	A21841817G	HSPG2	NM_005529.7(HSPG2):c.9194-144T>C	noncoding	Benign
1	21842475	G	A	G21842475A	HSPG2	NM_005529.7(HSPG2):c.8911-95C>T	noncoding	Benign
1	21842489	T	C	T21842489C	HSPG2	NM_005529.7(HSPG2):c.8911-109A>G	noncoding	Benign
1	21842641	G	A	G21842641A	HSPG2	NM_005529.7(HSPG2):c.8910+129C>T	noncoding	Benign
1	21842646	G	C	G21842646C	HSPG2	NM_005529.7(HSPG2):c.8910+124C>G	noncoding	Benign
1	21842693	A	G	A21842693G	HSPG2	NM_005529.7(HSPG2):c.8910+77T>C	noncoding	Benign
1	21842729	C	T	C21842729T	HSPG2	NM_005529.7(HSPG2):c.8910+41G>A	noncoding	Benign
1	21842960	G	A	G21842960A	HSPG2	NM_005529.7(HSPG2):c.8759-39C>T	noncoding	Benign
1	21843190	G	A	G21843190A	HSPG2	NM_005529.7(HSPG2):c.8758+107C>T	noncoding	Benign
1	21843925	T	C	T21843925C	HSPG2	NM_005529.7(HSPG2):c.8616+223A>G	noncoding	Benign
1	21844335	C	G	C21844335G	HSPG2	NM_005529.7(HSPG2):c.8465-36G>C	noncoding	Benign
1	21844381	C	T	C21844381T	HSPG2	NM_005529.7(HSPG2):c.8465-82G>A	noncoding	Benign
1	21844386	G	A	G21844386A	HSPG2	NM_005529.7(HSPG2):c.8465-87C>T	noncoding	Benign
1	21845903	C	T	C21845903T	HSPG2	NM_005529.7(HSPG2):c.8464+205G>A	noncoding	Benign
1	21845965	T	C	T21845965C	HSPG2	NM_005529.7(HSPG2):c.8464+143A>G	noncoding	Benign
1	21846095	C	G	C21846095G	HSPG2	NM_005529.7(HSPG2):c.8464+13G>C	noncoding	Benign
1	21846236	C	T	C21846236T	HSPG2	NM_005529.7(HSPG2):c.8336G>A:p.Arg2779Gln	coding	Benign/Likely_benign
1	21846651	C	T	C21846651T	HSPG2	NM_005529.7(HSPG2):c.8165-52G>A	noncoding	Benign
1	21847243	C	T	C21847243T	HSPG2	NM_005529.7(HSPG2):c.8164+111G>A	noncoding	Benign
1	21847269	G	A	G21847269A	HSPG2	NM_005529.7(HSPG2):c.8164+85C>T	noncoding	Benign
1	21847697	G	A	G21847697A	HSPG2	NM_005529.7(HSPG2):c.8017C>T:p.Arg2673Ter	coding	Pathogenic/Likely_pathogenic
1	21847887	T	C	T21847887C	HSPG2	NM_005529.7(HSPG2):c.7874-47A>G	noncoding	Benign
1	21847933	T	G	T21847933G	HSPG2	NM_005529.7(HSPG2):c.7873+25A>C	noncoding	Benign
1	21848418	G	A	G21848418A	HSPG2	NM_005529.7(HSPG2):c.7737+225C>T	noncoding	Benign
1	21848538	G	T	G21848538T	HSPG2	NM_005529.7(HSPG2):c.7737+105C>A	noncoding	Benign
1	21848603	T	C	T21848603C	HSPG2	NM_005529.7(HSPG2):c.7737+40A>G	noncoding	Benign
1	21849281	T	C	T21849281C	HSPG2	NM_005529.7(HSPG2):c.7447-250A>G	noncoding	Benign
1	21849969	C	T	C21849969T	HSPG2	NM_005529.7(HSPG2):c.7446+72G>A	noncoding	Benign
1	21850007	G	T	G21850007T	HSPG2	NM_005529.7(HSPG2):c.7446+34C>A	noncoding	Benign
1	21850276	C	T	C21850276T	HSPG2	NM_005529.7(HSPG2):c.7295-84G>A	noncoding	Benign
1	21850338	C	T	C21850338T	HSPG2	NM_005529.7(HSPG2):c.7294+25G>A	noncoding	Benign
1	21850626	A	G	A21850626G	HSPG2	NM_005529.7(HSPG2):c.7159-128T>C	noncoding	Benign
1	21850760	C	T	C21850760T	HSPG2	NM_005529.7(HSPG2):c.7159-262G>A	noncoding	Benign
1	21850815	G	A	G21850815A	HSPG2	NM_005529.7(HSPG2):c.7159-317C>T	noncoding	Benign
1	21850823	C	A	C21850823A	HSPG2	NM_005529.7(HSPG2):c.7159-325G>T	noncoding	Benign
1	21851262	C	T	C21851262T	HSPG2	NM_005529.7(HSPG2):c.7158+284G>A	noncoding	Benign
1	21851385	A	G	A21851385G	HSPG2	NM_005529.7(HSPG2):c.7158+161T>C	noncoding	Benign
1	21851591	C	T	C21851591T	HSPG2	NM_005529.7(HSPG2):c.7113G>A:p.Gln2371=	coding	Benign
1	21851976	A	G	A21851976G	HSPG2	NM_005529.7(HSPG2):c.6871-50T>C	noncoding	Benign
1	21852418	C	T	C21852418T	HSPG2	NM_005529.7(HSPG2):c.6725-185G>A	noncoding	Benign
1	21852498	C	T	C21852498T	HSPG2	NM_005529.7(HSPG2):c.6724+202G>A	noncoding	Benign
1	21852543	G	A	G21852543A	HSPG2	NM_005529.7(HSPG2):c.6724+157C>T	noncoding	Benign
1	21852903	C	T	C21852903T	HSPG2	NM_005529.7(HSPG2):c.6591+16G>A	noncoding	Benign
1	21853180	T	C	T21853180C	HSPG2	NM_005529.7(HSPG2):c.6440-110A>G	noncoding	Benign
1	21853366	C	A	C21853366A	HSPG2	NM_005529.7(HSPG2):c.6440-296G>T	noncoding	Benign
1	21854055	T	C	T21854055C	HSPG2	NM_005529.7(HSPG2):c.6439+138A>G	noncoding	Benign
1	21854455	C	T	C21854455T	HSPG2	NM_005529.7(HSPG2):c.6289-112G>A	noncoding	Benign
1	21854829	A	G	A21854829G	HSPG2	NM_005529.7(HSPG2):c.6133+19T>C	noncoding	Benign
1	21855230	G	C	G21855230C	HSPG2	NM_005529.7(HSPG2):c.5997+74C>G	noncoding	Benign
1	21855688	C	T	C21855688T	HSPG2	NM_005529.7(HSPG2):c.5702-13G>A	noncoding	Benign/Likely_benign
1	21855792	C	T	C21855792T	HSPG2	NM_005529.7(HSPG2):c.5696G>A:p.Trp1899Ter	coding	Pathogenic
1	21855842	C	T	C21855842T	HSPG2	NM_005529.7(HSPG2):c.5646G>A:p.Leu1882=	coding	Benign/Likely_benign
1	21856978	A	C	A21856978C	HSPG2	NM_005529.7(HSPG2):c.5575+37T>G	noncoding	Benign
1	21856983	A	G	A21856983G	HSPG2	NM_005529.7(HSPG2):c.5575+32T>C	noncoding	Benign
1	21856984	G	T	G21856984T	HSPG2	NM_005529.7(HSPG2):c.5575+31C>A	noncoding	Benign
1	21857141	G	A	G21857141A	HSPG2	NM_005529.7(HSPG2):c.5449C>T:p.Arg1817Ter	coding	Pathogenic
1	21857246	A	G	A21857246G	HSPG2	NM_005529.7(HSPG2):c.5394+39T>C	noncoding	Benign
1	21859325	A	G	A21859325G	HSPG2	NM_005529.7(HSPG2):c.5293+241T>C	noncoding	Benign
1	21859741	A	G	A21859741G	HSPG2	NM_005529.7(HSPG2):c.5183-65T>C	noncoding	Benign
1	21860236	C	T	C21860236T	HSPG2	NM_005529.7(HSPG2):c.4956-1G>A	coding	Pathogenic
1	21862091	C	A	C21862091A	HSPG2	NM_005529.7(HSPG2):c.4765G>T:p.Glu1589Ter	coding	Pathogenic
1	21862098	G	A	G21862098A	HSPG2	NM_005529.7(HSPG2):c.4758C>T:p.Ala1586=	coding	Benign/Likely_benign
1	21862269	C	T	C21862269T	HSPG2	NM_005529.7(HSPG2):c.4741-154G>A	noncoding	Benign
1	21862332	C	T	C21862332T	HSPG2	NM_005529.7(HSPG2):c.4741-217G>A	noncoding	Benign
1	21864376	G	A	G21864376A	HSPG2	NM_005529.7(HSPG2):c.4627-163C>T	noncoding	Benign
1	21864440	G	A	G21864440A	HSPG2	NM_005529.7(HSPG2):c.4627-227C>T	noncoding	Benign
1	21864538	C	A	C21864538A	HSPG2	NM_005529.7(HSPG2):c.4626+305G>T	noncoding	Benign
1	21865381	C	A	C21865381A	HSPG2	NM_005529.7(HSPG2):c.4315-16G>T	noncoding	Benign
1	21865893	C	T	C21865893T	HSPG2	NM_005529.7(HSPG2):c.4222-84G>A	noncoding	Benign
1	21866031	A	G	A21866031G	HSPG2	NM_005529.7(HSPG2):c.4222-222T>C	noncoding	Benign
1	21872462	G	A	G21872462A	HSPG2	NM_005529.7(HSPG2):c.4030-85C>T	noncoding	Benign
1	21872588	A	T	A21872588T	HSPG2	NM_005529.7(HSPG2):c.4029+32T>A	noncoding	Benign
1	21872921	G	A	G21872921A	HSPG2	NM_005529.7(HSPG2):c.3888+76C>T	noncoding	Benign
1	21872956	G	A	G21872956A	HSPG2	NM_005529.7(HSPG2):c.3888+41C>T	noncoding	Benign
1	21873256	T	G	T21873256G	HSPG2	NM_005529.7(HSPG2):c.3793+119A>C	noncoding	Benign
1	21873277	G	A	G21873277A	HSPG2	NM_005529.7(HSPG2):c.3793+98C>T	noncoding	Benign
1	21873328	G	A	G21873328A	HSPG2	NM_005529.7(HSPG2):c.3793+47C>T	noncoding	Benign
1	21873574	A	G	A21873574G	HSPG2	NM_005529.7(HSPG2):c.3744-150T>C	noncoding	Benign
1	21873587	C	T	C21873587T	HSPG2	NM_005529.7(HSPG2):c.3744-163G>A	noncoding	Benign
1	21873589	T	C	T21873589C	HSPG2	NM_005529.7(HSPG2):c.3744-165A>G	noncoding	Benign
1	21873807	G	A	G21873807A	HSPG2	NM_005529.7(HSPG2):c.3743+118C>T	noncoding	Benign
1	21874027	G	C	G21874027C	HSPG2	NM_005529.7(HSPG2):c.3657-16C>G	noncoding	Benign
1	21874342	C	G	C21874342G	HSPG2	NM_005529.7(HSPG2):c.3656+64G>C	noncoding	Benign
1	21874838	C	T	C21874838T	HSPG2	NM_005529.7(HSPG2):c.3414+53G>A	noncoding	Benign
1	21875070	A	G	A21875070G	HSPG2	NM_005529.7(HSPG2):c.3303-68T>C	noncoding	Benign
1	21875303	G	C	G21875303C	HSPG2	NM_005529.7(HSPG2):c.3303-301C>G	noncoding	Benign
1	21875387	C	T	C21875387T	HSPG2	NM_005529.7(HSPG2):c.3302+242G>A	noncoding	Benign
1	21875410	A	G	A21875410G	HSPG2	NM_005529.7(HSPG2):c.3302+219T>C	noncoding	Benign
1	21876492	C	T	C21876492T	HSPG2	NM_005529.7(HSPG2):c.2826+20G>A	noncoding	Benign
1	21876681	C	G	C21876681G	HSPG2	NM_005529.7(HSPG2):c.2686-29G>C	noncoding	Benign
1	21876766	A	G	A21876766G	HSPG2	NM_005529.7(HSPG2):c.2686-114T>C	noncoding	Benign
1	21878013	C	T	C21878013T	HSPG2	NM_005529.7(HSPG2):c.2685+173G>A	noncoding	Benign
1	21878137	G	A	G21878137A	HSPG2	NM_005529.7(HSPG2):c.2685+49C>T	noncoding	Benign
1	21878915	T	C	T21878915C	HSPG2	NM_005529.7(HSPG2):c.2471+79A>G	noncoding	Benign
1	21878973	T	C	T21878973C	HSPG2	NM_005529.7(HSPG2):c.2471+21A>G	noncoding	Benign
1	21879262	C	A	C21879262A	HSPG2	NM_005529.7(HSPG2):c.2344-141G>T	noncoding	Benign
1	21880086	G	A	G21880086A	HSPG2	NM_005529.7(HSPG2):c.2343+21C>T	noncoding	Benign
1	21880524	C	A	C21880524A	HSPG2	NM_005529.7(HSPG2):c.2034G>T:p.Gln678His	coding	Benign/Likely_benign
1	21880793	C	A	C21880793A	HSPG2	NM_005529.7(HSPG2):c.1861G>T:p.Glu621Ter	coding	Pathogenic
1	21884724	G	A	G21884724A	HSPG2	NM_005529.7(HSPG2):c.1507+43C>T	noncoding	Benign
1	21884729	T	C	T21884729C	HSPG2	NM_005529.7(HSPG2):c.1507+38A>G	noncoding	Benign
1	21885108	C	G	C21885108G	HSPG2	NM_005529.7(HSPG2):c.1260G>C:p.Arg420=	coding	Benign
1	21885187	C	T	C21885187T	HSPG2	NM_005529.7(HSPG2):c.1211-30G>A	noncoding	Benign
1	21887135	G	A	G21887135A	HSPG2	NM_005529.7(HSPG2):c.1078+80C>T	noncoding	Benign
1	21887350	G	A	G21887350A	HSPG2	NM_005529.7(HSPG2):c.959-16C>T	noncoding	Benign
1	21887878	T	C	T21887878C	HSPG2	NM_005529.7(HSPG2):c.703+60A>G	noncoding	Benign
1	21888152	C	A	C21888152A	HSPG2	NM_005529.7(HSPG2):c.575-86G>T	noncoding	Benign
1	21889240	G	A	G21889240A	HSPG2	NM_005529.7(HSPG2):c.574+741C>T	noncoding	Benign
1	21889568	C	G	C21889568G	HSPG2	NM_005529.7(HSPG2):c.574+413G>C	noncoding	Benign
1	21889786	C	T	C21889786T	HSPG2	NM_005529.7(HSPG2):c.574+195G>A	noncoding	Benign
1	21890499	C	G	C21890499G	HSPG2	NM_005529.7(HSPG2):c.355-14G>C	noncoding	Benign/Likely_benign
1	21890686	G	A	G21890686A	HSPG2	NM_005529.7(HSPG2):c.253C>T:p.Arg85Ter	coding	Pathogenic
1	21896287	G	A	G21896287A	HSPG2	NM_005529.7(HSPG2):c.87C>T:p.Tyr29=	coding	Benign
1	21937058	G	A	G21937058A	HSPG2	NM_005529.7(HSPG2):c.63+97C>T	noncoding	Benign
1	21937376	C	A	C21937376A	HSPG2	Single_allele	noncoding	Benign
1	21937384	G	A	G21937384A	HSPG2	Single_allele	noncoding	Benign
1	21937420	G	C	G21937420C	HSPG2	Single_allele	noncoding	Benign
1	22078709	T	A	T22078709A	CDC42	NM_001791.4(CDC42):c.105+126T>A	noncoding	Benign
1	22078812	C	G	C22078812G	CDC42	NM_001791.4(CDC42):c.105+229C>G	noncoding	Benign
1	22081613	G	A	G22081613A	CDC42	NM_001791.4(CDC42):c.106-109G>A	noncoding	Benign
1	22081719	T	C	T22081719C	CDC42	NM_001791.4(CDC42):c.106-3T>C	noncoding	Benign
1	22081972	C	T	C22081972T	CDC42	NM_001791.4(CDC42):c.178+178C>T	noncoding	Benign
1	22086467	G	A	G22086467A	CDC42	NM_001791.4(CDC42):c.207G>A:p.Pro69=	coding	Benign
1	22091504	G	A	G22091504A	CDC42	NM_001791.4(CDC42):c.563G>A:p.Cys188Tyr	coding	Pathogenic
1	22120275	G	A	G22120275A	WNT4	NM_030761.5(WNT4):c.831C>T:p.Pro277=	coding	Benign
1	22120655	G	C	G22120655C	WNT4	NM_030761.5(WNT4):c.589-138C>G	noncoding	Benign
1	22120823	A	G	A22120823G	WNT4	NM_030761.5(WNT4):c.589-306T>C	noncoding	Benign
1	22121030	G	A	G22121030A	WNT4	NM_030761.5(WNT4):c.588+181C>T	noncoding	Benign
1	22121447	T	C	T22121447C	WNT4	NM_030761.5(WNT4):c.443A>G:p.Gln148Arg	coding	Benign
1	22121724	C	T	C22121724T	WNT4	NM_030761.5(WNT4):c.314-148G>A	noncoding	Benign
1	22509184	A	G	A22509184G	ZBTB40	NM_014870.4(ZBTB40):c.1784A>G:p.Tyr595Cys	coding	Benign
1	22600821	A	G	A22600821G	EPHA8	NM_020526.5(EPHA8):c.2538+11A>G	noncoding	Benign
1	22638945	A	G	A22638945G	C1QA	NM_015991.4(C1QA):c.276A>G:p.Gly92=	coding	Benign
1	22639203	C	T	C22639203T	C1QA	NM_015991.4(C1QA):c.534C>T:p.Ser178=	coding	Benign
1	22644149	C	T	C22644149T	C1QC	NM_172369.5(C1QC):c.126C>T:p.Pro42=	coding	Benign
1	22644297	A	T	A22644297T	C1QC	NM_172369.5(C1QC):c.181+93A>T	noncoding	Benign
1	22644335	G	T	G22644335T	C1QC	NM_172369.5(C1QC):c.181+131G>T	noncoding	Benign
1	22644415	C	T	C22644415T	C1QC	NM_172369.5(C1QC):c.181+211C>T	noncoding	Benign
1	22644432	T	C	T22644432C	C1QC	NM_172369.5(C1QC):c.181+228T>C	noncoding	Benign
1	22647206	C	G	C22647206G	C1QC	NM_172369.5(C1QC):c.182-21C>G	noncoding	Benign
1	22647243	C	T	C22647243T	C1QC	NM_172369.5(C1QC):c.198C>T:p.Pro66=	coding	Benign
1	22647258	C	G	C22647258G	C1QC	NM_172369.5(C1QC):c.213C>G:p.Pro71=	coding	Benign
1	22647804	C	A	C22647804A	C1QC	NM_172369.5(C1QC):c.*21C>A	noncoding	Benign
1	22659618	G	A	G22659618A	C1QB	NM_001378156.1(C1QB):c.156G>A:p.Gly52=	coding	Benign
1	22659910	T	C	T22659910C	C1QB	NM_001378156.1(C1QB):c.181+267T>C	noncoding	Benign
1	22660577	T	C	T22660577C	C1QB	NM_001378156.1(C1QB):c.182-235T>C	noncoding	Benign
1	22661153	C	T	C22661153T	C1QB	NM_001378156.1(C1QB):c.523C>T:p.Arg175Ter	coding	Pathogenic
1	22661287	C	T	C22661287T	C1QB	NM_001378156.1(C1QB):c.657C>T:p.Asn219=	coding	Benign
1	22661353	C	T	C22661353T	C1QB	NM_001378156.1(C1QB):c.723C>T:p.Ser241=	coding	Benign
1	22661465	A	G	A22661465G	C1QB	NM_001378156.1(C1QB):c.*79A>G	noncoding	Benign
1	22882432	G	A	G22882432A	EPHB2	NM_017449.5(EPHB2):c.1377G>A:p.Pro459=	coding	Benign
1	22893000	T	C	T22893000C	EPHB2	NM_017449.5(EPHB2):c.1545T>C:p.Gly515=	coding	Benign
1	23030371	G	A	G23030371A	KDM1A	NM_001009999.3(KDM1A):c.352-98G>A	noncoding	Benign
1	23030789	A	T	A23030789T	KDM1A	NM_001009999.3(KDM1A):c.517+155A>T	noncoding	Benign
1	23050180	G	A	G23050180A	KDM1A	NM_001009999.3(KDM1A):c.578-207G>A	noncoding	Benign
1	23053705	A	G	A23053705G	KDM1A	NM_001009999.3(KDM1A):c.712-56A>G	noncoding	Benign
1	23053766	G	A	G23053766A	KDM1A	NM_001009999.3(KDM1A):c.717G>A:p.Gln239=	coding	Benign
1	23056236	A	G	A23056236G	KDM1A	NM_001009999.3(KDM1A):c.990+198A>G	noncoding	Benign
1	23071445	C	G	C23071445G	KDM1A	NM_001009999.3(KDM1A):c.1548+86C>G	noncoding	Benign
1	23071572	C	T	C23071572T	KDM1A	NM_001009999.3(KDM1A):c.1548+213C>T	noncoding	Benign
1	23073439	C	T	C23073439T	KDM1A	NM_001009999.3(KDM1A):c.1734+36C>T	noncoding	Benign
1	23077443	A	C	A23077443C	KDM1A	NM_001009999.3(KDM1A):c.1867+83A>C	noncoding	Benign
1	23079301	A	C	A23079301C	KDM1A	NM_001009999.3(KDM1A):c.2055+124A>C	noncoding	Benign
1	23079379	T	C	T23079379C	KDM1A	NM_001009999.3(KDM1A):c.2056-174T>C	noncoding	Benign
1	23081219	G	C	G23081219C	KDM1A	NM_001009999.3(KDM1A):c.2171-227G>C	noncoding	Benign
1	23081751	G	A	G23081751A	KDM1A	NM_001009999.3(KDM1A):c.2298+178G>A	noncoding	Benign
1	23083045	G	A	G23083045A	KDM1A	NM_001009999.3(KDM1A):c.2446-134G>A	noncoding	Benign
1	23310602	C	T	C23310602T	HNRNPR	NM_005826.5(HNRNPR):c.1754G>A:p.Arg585His	coding	Pathogenic
1	23691715	C	T	C23691715T	RPL11	Single_allele	noncoding	Benign
1	23691734	C	T	C23691734T	RPL11	Single_allele	noncoding	Benign
1	23691831	T	C	T23691831C	RPL11	NM_000975.5(RPL11):c.6+2T>C	noncoding	Pathogenic
1	23691838	C	T	C23691838T	RPL11	NM_000975.5(RPL11):c.6+9C>T	noncoding	Benign
1	23691848	G	T	G23691848T	RPL11	NM_000975.5(RPL11):c.6+19G>T	noncoding	Benign/Likely_benign
1	23691897	G	T	G23691897T	RPL11	NM_000975.5(RPL11):c.6+68G>T	noncoding	Benign
1	23692463	T	C	T23692463C	RPL11	NM_000975.5(RPL11):c.7-146T>C	noncoding	Benign
1	23692475	T	G	T23692475G	RPL11	NM_000975.5(RPL11):c.7-134T>G	noncoding	Benign
1	23692509	T	C	T23692509C	RPL11	NM_000975.5(RPL11):c.7-100T>C	noncoding	Benign
1	23692589	G	T	G23692589T	RPL11	NM_000975.5(RPL11):c.7-20G>T	noncoding	Benign/Likely_benign
1	23692653	C	T	C23692653T	RPL11	NM_000975.5(RPL11):c.51C>T:p.Ile17=	coding	Benign
1	23692723	G	T	G23692723T	RPL11	NM_000975.5(RPL11):c.121G>T:p.Glu41Ter	coding	Pathogenic
1	23692726	C	T	C23692726T	RPL11	NM_000975.5(RPL11):c.124C>T:p.Gln42Ter	coding	Pathogenic
1	23693789	G	C	G23693789C	RPL11	NM_000975.5(RPL11):c.158-18G>C	noncoding	Benign
1	23693805	A	C	A23693805C	RPL11	NM_000975.5(RPL11):c.158-2A>C	noncoding	Pathogenic
1	23693862	C	T	C23693862T	RPL11	NM_000975.5(RPL11):c.213C>T:p.His71=	coding	Benign
1	23693980	A	G	A23693980G	RPL11	NM_000975.5(RPL11):c.264+67A>G	noncoding	Benign
1	23694723	C	T	C23694723T	RPL11	NM_000975.5(RPL11):c.328C>T:p.Gln110Ter	coding	Pathogenic
1	23695947	A	G	A23695947G	RPL11	NM_000975.5(RPL11):c.507+39A>G	noncoding	Benign
1	23696521	C	T	C23696521T	RPL11	NM_000975.5(RPL11):c.*148C>T	noncoding	Benign
1	23797575	C	A	C23797575A	GALE	NM_001008216.2(GALE):c.528+120G>T	noncoding	Benign
1	23798007	G	A	G23798007A	GALE	NM_001008216.2(GALE):c.351+110C>T	noncoding	Benign
1	23798331	G	A	G23798331A	GALE	NM_001008216.2(GALE):c.238-101C>T	noncoding	Benign
1	23798604	C	T	C23798604T	GALE	NM_001008216.2(GALE):c.237+11G>A	noncoding	Benign
1	23802636	A	G	A23802636G	HMGCL	NM_000191.3(HMGCL):c.877-72T>C	noncoding	Benign
1	23804382	G	A	G23804382A	HMGCL	NM_000191.3(HMGCL):c.876+18C>T	noncoding	Benign
1	23810796	G	T	G23810796T	HMGCL	NM_000191.3(HMGCL):c.501C>A:p.Tyr167Ter	coding	Pathogenic
1	23814171	C	T	C23814171T	HMGCL	NM_000191.3(HMGCL):c.497+19G>A	noncoding	Benign/Likely_benign
1	23817486	C	T	C23817486T	HMGCL	NM_000191.3(HMGCL):c.242G>A:p.Trp81Ter	coding	Pathogenic
1	23820521	G	A	G23820521A	HMGCL	NM_000191.3(HMGCL):c.133C>T:p.Gln45Ter	coding	Pathogenic
1	23820533	G	A	G23820533A	HMGCL	NM_000191.3(HMGCL):c.121C>T:p.Arg41Ter	coding	Pathogenic/Likely_pathogenic
1	23820583	G	T	G23820583T	HMGCL	NM_000191.3(HMGCL):c.71C>A:p.Ser24Ter	coding	Pathogenic
1	23820610	G	A	G23820610A	HMGCL	NM_000191.3(HMGCL):c.61-17C>T	noncoding	Benign/Likely_benign
1	23825506	C	A	C23825506A	HMGCL	NM_000191.3(HMGCL):c.-91G>T	noncoding	Benign
1	23846118	C	A	C23846118A	FUCA1	NM_000147.5(FUCA1):c.1216G>T:p.Gly406Ter	coding	Pathogenic
1	23854342	A	T	A23854342T	FUCA1	NM_000147.5(FUCA1):c.969+18T>A	noncoding	Benign
1	23854377	C	A	C23854377A	FUCA1	NM_000147.5(FUCA1):c.952G>T:p.Glu318Ter	coding	Pathogenic/Likely_pathogenic
1	23863245	G	C	G23863245C	FUCA1	NM_000147.5(FUCA1):c.551C>G:p.Ser184Ter	coding	Pathogenic
1	23865889	G	C	G23865889C	FUCA1	NM_000147.5(FUCA1):c.390-264C>G	noncoding	Benign
1	23867884	G	A	G23867884A	FUCA1	NM_000147.5(FUCA1):c.389+14C>T	noncoding	Benign
1	24319888	G	A	G24319888A	GRHL3	NM_198173.3(GRHL3):c.17+320G>A	noncoding	Benign
1	24319897	C	A	C24319897A	GRHL3	NM_198173.3(GRHL3):c.17+329C>A	noncoding	Benign
1	24322926	C	T	C24322926T	GRHL3	NM_198173.3(GRHL3):c.17+3358C>T	noncoding	Benign
1	24323305	C	T	C24323305T	GRHL3	NM_198173.3(GRHL3):c.17+3737C>T	noncoding	Benign
1	24331370	A	G	A24331370G	GRHL3	NM_198173.3(GRHL3):c.18-56A>G	noncoding	Benign
1	24331573	C	G	C24331573G	GRHL3	NM_198173.3(GRHL3):c.165C>G:p.Asp55Glu	coding	Benign
1	24336413	G	C	G24336413C	GRHL3	NM_198173.3(GRHL3):c.267-69G>C	noncoding	Benign
1	24337164	C	T	C24337164T	GRHL3	NM_198173.3(GRHL3):c.686+13C>T	noncoding	Benign
1	24337475	G	A	G24337475A	GRHL3	NM_198173.3(GRHL3):c.687-161G>A	noncoding	Benign
1	24341906	C	T	C24341906T	GRHL3	NM_198173.3(GRHL3):c.1048-209C>T	noncoding	Benign
1	24342177	C	G	C24342177G	GRHL3	NM_198173.3(GRHL3):c.1110C>G:p.Val370=	coding	Benign
1	24342239	G	A	G24342239A	GRHL3	NM_198173.3(GRHL3):c.1172G>A:p.Arg391His	coding	Pathogenic
1	24342352	T	C	T24342352C	GRHL3	NM_198173.3(GRHL3):c.1206+79T>C	noncoding	Benign
1	24343047	C	T	C24343047T	GRHL3	NM_198173.3(GRHL3):c.1419+22C>T	noncoding	Benign
1	24343304	T	C	T24343304C	GRHL3	NM_198173.3(GRHL3):c.1419+279T>C	noncoding	Benign
1	24343318	C	T	C24343318T	GRHL3	NM_198173.3(GRHL3):c.1419+293C>T	noncoding	Benign
1	24344797	C	T	C24344797T	GRHL3	NM_198173.3(GRHL3):c.1420-100C>T	noncoding	Benign
1	24344907	C	T	C24344907T	GRHL3	NM_198173.3(GRHL3):c.1430C>T:p.Ser477Leu	coding	Benign
1	24344991	C	A	C24344991A	GRHL3	NM_198173.3(GRHL3):c.1454+60C>A	noncoding	Benign
1	24344995	T	G	T24344995G	GRHL3	NM_198173.3(GRHL3):c.1454+64T>G	noncoding	Benign
1	24346567	G	A	G24346567A	GRHL3	NM_198173.3(GRHL3):c.1469G>A:p.Arg490His	coding	Benign
1	24346757	G	A	G24346757A	GRHL3	NM_198173.3(GRHL3):c.1543+116G>A	noncoding	Benign
1	24346792	G	C	G24346792C	GRHL3	NM_198173.3(GRHL3):c.1543+151G>C	noncoding	Benign
1	24347376	A	G	A24347376G	GRHL3	NM_198173.3(GRHL3):c.1544-92A>G	noncoding	Benign
1	24347787	C	A	C24347787A	GRHL3	NM_198173.3(GRHL3):c.1629+234C>A	noncoding	Benign
1	24349901	A	G	A24349901G	GRHL3	NM_198173.3(GRHL3):c.1630-157A>G	noncoding	Benign
1	24350339	T	G	T24350339G	GRHL3	NM_198173.3(GRHL3):c.1694+217T>G	noncoding	Benign
1	24354081	A	G	A24354081G	GRHL3	NM_198173.3(GRHL3):c.1695-293A>G	noncoding	Benign
1	24354121	C	T	C24354121T	GRHL3	NM_198173.3(GRHL3):c.1695-253C>T	noncoding	Benign
1	24354175	C	T	C24354175T	GRHL3	NM_198173.3(GRHL3):c.1695-199C>T	noncoding	Benign
1	24354218	C	T	C24354218T	GRHL3	NM_198173.3(GRHL3):c.1695-156C>T	noncoding	Benign
1	24354425	C	T	C24354425T	GRHL3	NM_198173.3(GRHL3):c.1746C>T:p.Val582=	coding	Benign
1	24363924	A	G	A24363924G	GRHL3	NM_001199013.2(STPG1):c.738-2883T>C	noncoding	Benign
1	24364274	T	A	T24364274A	GRHL3	NM_001199013.2(STPG1):c.738-3233A>T	coding	Benign
1	24364404	C	T	C24364404T	GRHL3	NM_001199013.2(STPG1):c.738-3363G>A	coding	Benign
1	24364647	T	C	T24364647C	GRHL3	NM_001199013.2(STPG1):c.738-3606A>G	noncoding	Benign
1	25391993	C	A	C25391993A	RHCE	NM_020485.8(RHCE):c.634+1G>T	noncoding	Pathogenic
1	25553920	A	G	A25553920G	LDLRAP1	NM_015627.3(LDLRAP1):c.89-2A>G	noncoding	Pathogenic
1	25553937	G	A	G25553937A	LDLRAP1	NM_015627.3(LDLRAP1):c.104G>A:p.Trp35Ter	coding	Pathogenic
1	25554973	G	A	G25554973A	LDLRAP1	NM_015627.3(LDLRAP1):c.344+1G>A	coding	Pathogenic
1	25557208	C	T	C25557208T	LDLRAP1	NM_015627.3(LDLRAP1):c.400C>T:p.Gln134Ter	coding	Pathogenic
1	25562643	G	A	G25562643A	LDLRAP1	NM_015627.3(LDLRAP1):c.460-1G>A	noncoding	Pathogenic/Likely_pathogenic
1	25563181	G	A	G25563181A	LDLRAP1	NM_015627.3(LDLRAP1):c.616+28G>A	noncoding	Benign
1	25563647	C	G	C25563647G	LDLRAP1	NM_015627.3(LDLRAP1):c.617-14C>G	noncoding	Benign
1	25563693	G	T	G25563693T	LDLRAP1	NM_015627.3(LDLRAP1):c.649G>T:p.Glu217Ter	coding	Pathogenic
1	25566730	G	T	G25566730T	LDLRAP1	NM_015627.3(LDLRAP1):c.783-118G>T	noncoding	Benign
1	25800390	G	T	G25800390T	SELENON	NM_020451.3(SELENON):c.160G>T:p.Glu54Ter	coding	Pathogenic
1	25808410	G	A	G25808410A	SELENON	NM_020451.3(SELENON):c.538-170G>A	noncoding	Benign
1	25808435	C	G	C25808435G	SELENON	NM_020451.3(SELENON):c.538-145C>G	noncoding	Benign
1	25808592	G	C	G25808592C	SELENON	NM_020451.3(SELENON):c.550G>C:p.Ala184Pro	coding	Benign/Likely_benign
1	25808614	G	A	G25808614A	SELENON	NM_020451.3(SELENON):c.572G>A:p.Trp191Ter	coding	Pathogenic
1	25809095	G	A	G25809095A	SELENON	NM_020451.3(SELENON):c.817G>A:p.Gly273Arg	coding	Pathogenic/Likely_pathogenic
1	25809250	C	G	C25809250G	SELENON	NM_020451.3(SELENON):c.872+100C>G	noncoding	Benign
1	25809365	T	C	T25809365C	SELENON	NM_020451.3(SELENON):c.872+215T>C	noncoding	Benign
1	25811351	T	A	T25811351A	SELENON	NM_020451.3(SELENON):c.1011-103T>A	noncoding	Benign
1	25811551	G	C	G25811551C	SELENON	NM_020451.3(SELENON):c.1092+16G>C	noncoding	Benign/Likely_benign
1	25812440	A	G	A25812440G	SELENON	NM_020451.3(SELENON):c.1282-247A>G	noncoding	Benign
1	25812677	G	A	G25812677A	SELENON	NM_020451.3(SELENON):c.1282-10G>A	noncoding	Benign
1	25813889	C	T	C25813889T	SELENON	NM_020451.3(SELENON):c.1396C>T:p.Arg466Trp	coding	Pathogenic
1	25813898	C	T	C25813898T	SELENON	NM_020451.3(SELENON):c.1405C>T:p.Arg469Trp	coding	Pathogenic/Likely_pathogenic
1	25814303	A	G	A25814303G	SELENON	NM_020451.3(SELENON):c.1602+125A>G	noncoding	Benign
1	25815483	G	C	G25815483C	SELENON	NM_020451.3(SELENON):c.1603-65G>C	noncoding	Benign
1	26051871	C	T	C26051871T	TRIM63	NM_032588.4(TRIM63):c.*2G>A	noncoding	Benign
1	26053903	C	T	C26053903T	TRIM63	NM_032588.4(TRIM63):c.1041G>A:p.Gly347=	coding	Benign
1	26057127	C	G	C26057127G	TRIM63	NM_032588.4(TRIM63):c.979+76G>C	noncoding	Benign
1	26057384	A	G	A26057384G	TRIM63	NM_032588.4(TRIM63):c.855-57T>C	noncoding	Benign
1	26057522	A	G	A26057522G	TRIM63	NM_032588.4(TRIM63):c.854+106T>C	noncoding	Benign
1	26058199	T	G	T26058199G	TRIM63	NM_032588.4(TRIM63):c.831+191A>C	noncoding	Benign
1	26058512	T	C	T26058512C	TRIM63	NM_032588.4(TRIM63):c.709A>G:p.Lys237Glu	coding	Benign
1	26058659	G	C	G26058659C	TRIM63	NM_032588.4(TRIM63):c.598-36C>G	noncoding	Benign
1	26058815	G	T	G26058815T	TRIM63	NM_032588.4(TRIM63):c.598-192C>A	noncoding	Benign
1	26060932	G	A	G26060932A	TRIM63	NM_032588.4(TRIM63):c.501+234C>T	noncoding	Benign
1	26061134	A	C	A26061134C	TRIM63	NM_032588.4(TRIM63):c.501+32T>G	noncoding	Benign
1	26061277	G	C	G26061277C	TRIM63	NM_032588.4(TRIM63):c.390C>G:p.Ile130Met	coding	Pathogenic
1	26061478	T	A	T26061478A	TRIM63	NM_032588.4(TRIM63):c.333-144A>T	noncoding	Benign
1	26066044	C	T	C26066044T	TRIM63	NM_032588.4(TRIM63):c.332+224G>A	noncoding	Benign
1	26066172	A	T	A26066172T	TRIM63	NM_032588.4(TRIM63):c.332+96T>A	noncoding	Benign
1	26066333	C	A	C26066333A	TRIM63	NM_032588.4(TRIM63):c.267G>T:p.Val89=	coding	Benign
1	26066480	A	C	A26066480C	TRIM63	NM_032588.4(TRIM63):c.160-40T>G	noncoding	Benign
1	26066483	T	C	T26066483C	TRIM63	NM_032588.4(TRIM63):c.160-43A>G	noncoding	Benign
1	26067483	C	T	C26067483T	TRIM63	NM_032588.4(TRIM63):c.12G>A:p.Lys4=	coding	Benign
1	26067710	C	T	C26067710T	TRIM63	Single_allele	noncoding	Benign
1	26067810	G	T	G26067810T	TRIM63	Single_allele	noncoding	Benign
1	26344757	A	G	A26344757G	CRYBG2	NM_001039775.4(CRYBG2):c.1901T>C:p.Val634Ala	coding	Benign
1	26432658	A	G	A26432658G	DHDDS	NM_205861.3(DHDDS):c.-55-233A>G	noncoding	Benign
1	26437956	G	A	G26437956A	DHDDS	NM_205861.3(DHDDS):c.64-212G>A	noncoding	Benign
1	26457812	T	C	T26457812C	DHDDS	NM_205861.3(DHDDS):c.564T>C:p.Leu188=	coding	Benign
1	26457862	G	A	G26457862A	DHDDS	NM_205861.3(DHDDS):c.614G>A:p.Arg205Gln	coding	Pathogenic/Likely_pathogenic
1	26460093	G	A	G26460093A	DHDDS	NM_205861.3(DHDDS):c.714G>A:p.Trp238Ter	coding	Pathogenic
1	26696377	C	T	C26696377T	ARID1A	NM_006015.6(ARID1A):c.-27C>T	noncoding	Benign
1	26696538	C	T	C26696538T	ARID1A	NM_006015.6(ARID1A):c.135C>T:p.Ala45=	coding	Benign/Likely_benign
1	26696565	C	T	C26696565T	ARID1A	NM_006015.6(ARID1A):c.162C>T:p.Ala54=	coding	Benign
1	26696569	C	T	C26696569T	ARID1A	NM_006015.6(ARID1A):c.166C>T:p.Gln56Ter	coding	Pathogenic
1	26696578	G	T	G26696578T	ARID1A	NM_006015.6(ARID1A):c.175G>T:p.Glu59Ter	coding	Pathogenic
1	26696671	A	G	A26696671G	ARID1A	NM_006015.6(ARID1A):c.268A>G:p.Ser90Gly	coding	Benign/Likely_benign
1	26696721	C	T	C26696721T	ARID1A	NM_006015.6(ARID1A):c.318C>T:p.Asn106=	coding	Benign
1	26696734	C	G	C26696734G	ARID1A	NM_006015.6(ARID1A):c.331C>G:p.Pro111Ala	coding	Benign
1	26696776	G	A	G26696776A	ARID1A	NM_006015.6(ARID1A):c.373G>A:p.Gly125Ser	coding	Benign
1	26696796	G	C	G26696796C	ARID1A	NM_006015.6(ARID1A):c.393G>C:p.Gly131=	coding	Benign
1	26696851	T	C	T26696851C	ARID1A	NM_006015.6(ARID1A):c.448T>C:p.Phe150Leu	coding	Benign
1	26696869	C	A	C26696869A	ARID1A	NM_006015.6(ARID1A):c.466C>A:p.Arg156=	coding	Benign
1	26696875	C	T	C26696875T	ARID1A	NM_006015.6(ARID1A):c.472C>T:p.Pro158Ser	coding	Benign/Likely_benign
1	26696907	C	T	C26696907T	ARID1A	NM_006015.6(ARID1A):c.504C>T:p.Val168=	coding	Benign
1	26696950	G	A	G26696950A	ARID1A	NM_006015.6(ARID1A):c.547G>A:p.Ala183Thr	coding	Benign
1	26696984	C	T	C26696984T	ARID1A	NM_006015.6(ARID1A):c.581C>T:p.Pro194Leu	coding	Benign/Likely_benign
1	26697069	C	G	C26697069G	ARID1A	NM_006015.6(ARID1A):c.666C>G:p.Tyr222Ter	coding	Pathogenic
1	26697162	C	G	C26697162G	ARID1A	NM_006015.6(ARID1A):c.759C>G:p.Pro253=	coding	Benign/Likely_benign
1	26697240	C	T	C26697240T	ARID1A	NM_006015.6(ARID1A):c.837C>T:p.Pro279=	coding	Benign
1	26729764	C	G	C26729764G	ARID1A	NM_006015.6(ARID1A):c.1251C>G:p.Tyr417Ter	coding	Pathogenic
1	26729779	C	T	C26729779T	ARID1A	NM_006015.6(ARID1A):c.1266C>T:p.Tyr422=	coding	Benign
1	26730152	G	A	G26730152A	ARID1A	NM_006015.6(ARID1A):c.1350+289G>A	noncoding	Benign
1	26731070	C	T	C26731070T	ARID1A	NM_006015.6(ARID1A):c.1351-82C>T	noncoding	Benign
1	26731130	A	C	A26731130C	ARID1A	NM_006015.6(ARID1A):c.1351-22A>C	noncoding	Benign
1	26731443	C	T	C26731443T	ARID1A	NM_006015.6(ARID1A):c.1642C>T:p.Gln548Ter	coding	Pathogenic
1	26731517	G	A	G26731517A	ARID1A	NM_006015.6(ARID1A):c.1716G>A:p.Thr572=	coding	Benign
1	26732722	C	A	C26732722A	ARID1A	NM_006015.6(ARID1A):c.1850C>A:p.Ser617Ter	coding	Pathogenic
1	26732843	A	C	A26732843C	ARID1A	NM_006015.6(ARID1A):c.1920+51A>C	noncoding	Benign
1	26732843	A	G	A26732843G	ARID1A	NM_006015.6(ARID1A):c.1920+51A>G	noncoding	Benign
1	26761057	C	T	C26761057T	ARID1A	NM_006015.6(ARID1A):c.2122C>T:p.Gln708Ter	coding	Pathogenic
1	26761074	A	G	A26761074G	ARID1A	NM_006015.6(ARID1A):c.2139A>G:p.Pro713=	coding	Benign/Likely_benign
1	26761145	A	G	A26761145G	ARID1A	NM_006015.6(ARID1A):c.2161+49A>G	noncoding	Benign
1	26761470	C	T	C26761470T	ARID1A	NM_006015.6(ARID1A):c.2248C>T:p.Arg750Ter	coding	Pathogenic
1	26761870	A	G	A26761870G	ARID1A	NM_006015.6(ARID1A):c.2252-282A>G	noncoding	Benign
1	26762055	A	T	A26762055T	ARID1A	NM_006015.6(ARID1A):c.2252-97A>T	noncoding	Benign
1	26762198	G	A	G26762198A	ARID1A	NM_006015.6(ARID1A):c.2298G>A:p.Gln766=	coding	Benign
1	26762955	G	C	G26762955C	ARID1A	NM_006015.6(ARID1A):c.2420-18G>C	noncoding	Benign
1	26766602	G	A	G26766602A	ARID1A	NM_006015.6(ARID1A):c.2988+36G>A	noncoding	Benign
1	26767665	A	G	A26767665G	ARID1A	NM_006015.6(ARID1A):c.2989-125A>G	noncoding	Benign
1	26767847	G	A	G26767847A	ARID1A	NM_006015.6(ARID1A):c.3046G>A:p.Gly1016Ser	coding	Benign
1	26767850	G	T	G26767850T	ARID1A	NM_006015.6(ARID1A):c.3049G>T:p.Glu1017Ter	coding	Pathogenic
1	26767859	A	T	A26767859T	ARID1A	NM_006015.6(ARID1A):c.3058A>T:p.Arg1020Trp	coding	Pathogenic
1	26767868	T	C	T26767868C	ARID1A	NM_006015.6(ARID1A):c.3067T>C:p.Trp1023Arg	coding	Pathogenic/Likely_pathogenic
1	26767912	C	T	C26767912T	ARID1A	NM_006015.6(ARID1A):c.3111C>T:p.Gly1037=	coding	Benign
1	26771024	A	G	A26771024G	ARID1A	NM_006015.6(ARID1A):c.3199-95A>G	noncoding	Benign
1	26771092	C	T	C26771092T	ARID1A	NM_006015.6(ARID1A):c.3199-27C>T	noncoding	Benign
1	26771150	C	A	C26771150A	ARID1A	NM_006015.6(ARID1A):c.3230C>A:p.Ala1077Glu	coding	Pathogenic/Likely_pathogenic
1	26772455	A	C	A26772455C	ARID1A	NM_006015.6(ARID1A):c.3407-45A>C	noncoding	Benign
1	26772800	C	T	C26772800T	ARID1A	NM_006015.6(ARID1A):c.3540-12C>T	noncoding	Benign
1	26773339	C	T	C26773339T	ARID1A	NM_006015.6(ARID1A):c.3716-7C>T	noncoding	Benign/Likely_benign
1	26773456	C	T	C26773456T	ARID1A	NM_006015.6(ARID1A):c.3826C>T:p.Arg1276Ter	coding	Pathogenic
1	26773583	G	A	G26773583A	ARID1A	NM_006015.6(ARID1A):c.3870G>A:p.Thr1290=	coding	Benign
1	26773685	C	T	C26773685T	ARID1A	NM_006015.6(ARID1A):c.3972C>T:p.Tyr1324=	coding	Benign
1	26773850	C	T	C26773850T	ARID1A	NM_006015.6(ARID1A):c.4053C>T:p.Gly1351=	coding	Benign/Likely_benign
1	26773878	A	G	A26773878G	ARID1A	NM_006015.6(ARID1A):c.4081A>G:p.Met1361Val	coding	Benign/Likely_benign
1	26774351	G	C	G26774351C	ARID1A	NM_006015.6(ARID1A):c.4124G>C:p.Gly1375Ala	coding	Benign
1	26774379	C	T	C26774379T	ARID1A	NM_006015.6(ARID1A):c.4152C>T:p.His1384=	coding	Benign
1	26774531	A	G	A26774531G	ARID1A	NM_006015.6(ARID1A):c.4304A>G:p.Tyr1435Cys	coding	Benign
1	26774765	G	A	G26774765A	ARID1A	NM_006015.6(ARID1A):c.4538G>A:p.Ser1513Asn	coding	Benign
1	26774769	G	A	G26774769A	ARID1A	NM_006015.6(ARID1A):c.4542G>A:p.Thr1514=	coding	Benign
1	26774787	C	T	C26774787T	ARID1A	NM_006015.6(ARID1A):c.4560C>T:p.Gly1520=	coding	Benign
1	26774790	C	T	C26774790T	ARID1A	NM_006015.6(ARID1A):c.4563C>T:p.Pro1521=	coding	Benign
1	26774978	A	G	A26774978G	ARID1A	NM_006015.6(ARID1A):c.4751A>G:p.Gln1584Arg	coding	Benign/Likely_benign
1	26775006	G	T	G26775006T	ARID1A	NM_006015.6(ARID1A):c.4779G>T:p.Arg1593=	coding	Benign/Likely_benign
1	26775096	G	A	G26775096A	ARID1A	NM_006015.6(ARID1A):c.4869G>A:p.Ser1623=	coding	Benign
1	26775106	C	G	C26775106G	ARID1A	NM_006015.6(ARID1A):c.4879C>G:p.Pro1627Ala	coding	Benign/Likely_benign
1	26775154	C	A	C26775154A	ARID1A	NM_006015.6(ARID1A):c.4927C>A:p.Pro1643Thr	coding	Benign
1	26775557	G	C	G26775557C	ARID1A	NM_006015.6(ARID1A):c.4994-20G>C	noncoding	Benign
1	26779209	C	T	C26779209T	ARID1A	NM_006015.6(ARID1A):c.5311C>T:p.Pro1771Ser	coding	Benign/Likely_benign
1	26779227	G	T	G26779227T	ARID1A	NM_006015.6(ARID1A):c.5329G>T:p.Glu1777Ter	coding	Pathogenic
1	26779234	A	G	A26779234G	ARID1A	NM_006015.6(ARID1A):c.5336A>G:p.Glu1779Gly	coding	Benign
1	26779336	C	T	C26779336T	ARID1A	NM_006015.6(ARID1A):c.5438C>T:p.Pro1813Leu	coding	Benign
1	26779513	C	T	C26779513T	ARID1A	NM_006015.6(ARID1A):c.5615C>T:p.Ala1872Val	coding	Benign
1	26779832	C	T	C26779832T	ARID1A	NM_006015.6(ARID1A):c.5934C>T:p.Ala1978=	coding	Benign
1	26780342	T	C	T26780342C	ARID1A	NM_006015.6(ARID1A):c.6444T>C:p.Tyr2148=	coding	Benign
1	26780379	C	G	C26780379G	ARID1A	NM_006015.6(ARID1A):c.6481C>G:p.Pro2161Ala	coding	Benign
1	26780523	C	T	C26780523T	ARID1A	NM_006015.6(ARID1A):c.6625C>T:p.Gln2209Ter	coding	Pathogenic
1	26780557	A	G	A26780557G	ARID1A	NM_006015.6(ARID1A):c.6659A>G:p.Asn2220Ser	coding	Benign/Likely_benign
1	26780607	G	A	G26780607A	ARID1A	NM_006015.6(ARID1A):c.6709G>A:p.Ala2237Thr	coding	Benign/Likely_benign
1	26780777	C	T	C26780777T	ARID1A	NM_006015.6(ARID1A):c.*21C>T	noncoding	Benign
1	26780779	C	T	C26780779T	ARID1A	NM_006015.6(ARID1A):c.*23C>T	noncoding	Benign
1	26780781	C	T	C26780781T	ARID1A	NM_006015.6(ARID1A):c.*25C>T	noncoding	Benign
1	26780793	C	T	C26780793T	ARID1A	NM_006015.6(ARID1A):c.*37C>T	noncoding	Benign
1	26794180	C	A	C26794180A	PIGV	NM_017837.4(PIGV):c.146C>A:p.Ser49Ter	coding	Pathogenic
1	26951532	C	T	C26951532T	KDF1	NM_152365.3(KDF1):c.849G>A:p.Thr283=	coding	Benign
1	26952030	G	A	G26952030A	KDF1	NM_152365.3(KDF1):c.351C>T:p.Asp117=	coding	Benign
1	26952062	G	A	G26952062A	KDF1	NM_152365.3(KDF1):c.319C>T:p.Arg107Trp	coding	Benign
1	26952082	T	C	T26952082C	KDF1	NM_152365.3(KDF1):c.299A>G:p.Gln100Arg	coding	Benign
1	27100305	T	C	T27100305C	SLC9A1	NM_003047.5(SLC9A1):c.*2A>G	noncoding	Benign
1	27100550	T	C	T27100550C	SLC9A1	NM_003047.5(SLC9A1):c.2205A>G:p.Glu735=	coding	Benign
1	27101830	T	C	T27101830C	SLC9A1	NM_003047.5(SLC9A1):c.1936-4A>G	noncoding	Benign
1	27154266	A	G	A27154266G	SLC9A1	NM_003047.5(SLC9A1):c.69T>C:p.Val23=	coding	Benign
1	27330739	G	A	G27330739A	TMEM222	NM_032125.3(TMEM222):c.214G>A:p.Gly72Ser	coding	Pathogenic
1	27333980	C	T	C27333980T	TMEM222	NM_032125.3(TMEM222):c.334C>T:p.Gln112Ter	coding	Pathogenic
1	27334283	T	C	T27334283C	TMEM222	NM_032125.3(TMEM222):c.539+2T>C	noncoding	Pathogenic
1	27370868	C	G	C27370868G	FCN3	NM_003665.4(FCN3):c.498G>C:p.Glu166Asp	coding	Benign/Likely_benign
1	27547319	G	A	G27547319A	AHDC1	NM_001371928.1(AHDC1):c.4797C>T:p.Thr1599=	coding	Benign/Likely_benign
1	27547452	G	A	G27547452A	AHDC1	NM_001371928.1(AHDC1):c.4664C>T:p.Ser1555Leu	coding	Benign
1	27547513	C	T	C27547513T	AHDC1	NM_001371928.1(AHDC1):c.4603G>A:p.Ala1535Thr	coding	Benign/Likely_benign
1	27547746	T	C	T27547746C	AHDC1	NM_001371928.1(AHDC1):c.4370A>G:p.Asp1457Gly	coding	Pathogenic/Likely_pathogenic
1	27547787	G	C	G27547787C	AHDC1	NM_001371928.1(AHDC1):c.4329C>G:p.His1443Gln	coding	Benign/Likely_benign
1	27547862	C	T	C27547862T	AHDC1	NM_001371928.1(AHDC1):c.4254G>A:p.Lys1418=	coding	Benign
1	27548095	A	C	A27548095C	AHDC1	NM_001371928.1(AHDC1):c.4021T>G:p.Cys1341Gly	coding	Benign/Likely_benign
1	27548127	G	T	G27548127T	AHDC1	NM_001371928.1(AHDC1):c.3989C>A:p.Ser1330Ter	coding	Pathogenic
1	27548343	G	C	G27548343C	AHDC1	NM_001371928.1(AHDC1):c.3773C>G:p.Ser1258Ter	coding	Pathogenic
1	27548460	C	T	C27548460T	AHDC1	NM_001371928.1(AHDC1):c.3656G>A:p.Trp1219Ter	coding	Pathogenic
1	27548666	C	T	C27548666T	AHDC1	NM_001371928.1(AHDC1):c.3450G>A:p.Pro1150=	coding	Benign
1	27548749	C	T	C27548749T	AHDC1	NM_001371928.1(AHDC1):c.3367G>A:p.Ala1123Thr	coding	Benign
1	27549053	G	A	G27549053A	AHDC1	NM_001371928.1(AHDC1):c.3063C>T:p.Ala1021=	coding	Benign
1	27549173	G	A	G27549173A	AHDC1	NM_001371928.1(AHDC1):c.2943C>T:p.Phe981=	coding	Benign
1	27549184	G	A	G27549184A	AHDC1	NM_001371928.1(AHDC1):c.2932C>T:p.Gln978Ter	coding	Pathogenic
1	27549266	C	T	C27549266T	AHDC1	NM_001371928.1(AHDC1):c.2850G>A:p.Pro950=	coding	Benign/Likely_benign
1	27549313	C	T	C27549313T	AHDC1	NM_001371928.1(AHDC1):c.2803G>A:p.Ala935Thr	coding	Benign
1	27549390	G	C	G27549390C	AHDC1	NM_001371928.1(AHDC1):c.2726C>G:p.Pro909Arg	coding	Benign/Likely_benign
1	27549472	G	A	G27549472A	AHDC1	NM_001371928.1(AHDC1):c.2644C>T:p.Gln882Ter	coding	Pathogenic
1	27549584	G	A	G27549584A	AHDC1	NM_001371928.1(AHDC1):c.2532C>T:p.Leu844=	coding	Benign
1	27549643	G	A	G27549643A	AHDC1	NM_001371928.1(AHDC1):c.2473C>T:p.Gln825Ter	coding	Pathogenic
1	27549971	C	A	C27549971A	AHDC1	NM_001371928.1(AHDC1):c.2145G>T:p.Pro715=	coding	Benign
1	27550274	G	A	G27550274A	AHDC1	NM_001371928.1(AHDC1):c.1842C>T:p.Asp614=	coding	Benign
1	27550324	G	A	G27550324A	AHDC1	NM_001371928.1(AHDC1):c.1792C>T:p.Gln598Ter	coding	Pathogenic
1	27550496	G	A	G27550496A	AHDC1	NM_001371928.1(AHDC1):c.1620C>T:p.Pro540=	coding	Benign
1	27550580	G	A	G27550580A	AHDC1	NM_001371928.1(AHDC1):c.1536C>T:p.Arg512=	coding	Benign/Likely_benign
1	27550623	A	T	A27550623T	AHDC1	NM_001371928.1(AHDC1):c.1493T>A:p.Leu498Ter	coding	Pathogenic
1	27550669	C	T	C27550669T	AHDC1	NM_001371928.1(AHDC1):c.1447G>A:p.Val483Ile	coding	Benign/Likely_benign
1	27550670	G	A	G27550670A	AHDC1	NM_001371928.1(AHDC1):c.1446C>T:p.Pro482=	coding	Benign
1	27550790	G	A	G27550790A	AHDC1	NM_001371928.1(AHDC1):c.1326C>T:p.Gly442=	coding	Benign/Likely_benign
1	27550881	C	T	C27550881T	AHDC1	NM_001371928.1(AHDC1):c.1235G>A:p.Arg412His	coding	Benign/Likely_benign
1	27550907	G	A	G27550907A	AHDC1	NM_001371928.1(AHDC1):c.1209C>T:p.Arg403=	coding	Benign
1	27550970	G	A	G27550970A	AHDC1	NM_001371928.1(AHDC1):c.1146C>T:p.Tyr382=	coding	Benign/Likely_benign
1	27551108	G	T	G27551108T	AHDC1	NM_001371928.1(AHDC1):c.1008C>A:p.Pro336=	coding	Benign/Likely_benign
1	27551122	G	A	G27551122A	AHDC1	NM_001371928.1(AHDC1):c.994C>T:p.Gln332Ter	coding	Pathogenic
1	27551132	C	A	C27551132A	AHDC1	NM_001371928.1(AHDC1):c.984G>T:p.Leu328=	coding	Benign
1	27551332	G	A	G27551332A	AHDC1	NM_001371928.1(AHDC1):c.784C>T:p.Gln262Ter	coding	Pathogenic
1	27551390	G	A	G27551390A	AHDC1	NM_001371928.1(AHDC1):c.726C>T:p.Ala242=	coding	Benign/Likely_benign
1	27551459	C	T	C27551459T	AHDC1	NM_001371928.1(AHDC1):c.657G>A:p.Thr219=	coding	Benign
1	27551627	T	C	T27551627C	AHDC1	NM_001371928.1(AHDC1):c.489A>G:p.Leu163=	coding	Benign/Likely_benign
1	27551633	G	A	G27551633A	AHDC1	NM_001371928.1(AHDC1):c.483C>T:p.Gly161=	coding	Benign
1	27551636	G	A	G27551636A	AHDC1	NM_001371928.1(AHDC1):c.480C>T:p.Pro160=	coding	Benign/Likely_benign
1	27551651	C	T	C27551651T	AHDC1	NM_001371928.1(AHDC1):c.465G>A:p.Pro155=	coding	Benign
1	27551830	G	A	G27551830A	AHDC1	NM_001371928.1(AHDC1):c.286C>T:p.Arg96Cys	coding	Benign/Likely_benign
1	27551868	G	C	G27551868C	AHDC1	NM_001371928.1(AHDC1):c.248C>G:p.Pro83Arg	coding	Benign
1	27551891	T	C	T27551891C	AHDC1	NM_001371928.1(AHDC1):c.225A>G:p.Pro75=	coding	Benign/Likely_benign
1	27551991	C	T	C27551991T	AHDC1	NM_001371928.1(AHDC1):c.125G>A:p.Arg42Gln	coding	Benign
1	27552009	C	G	C27552009G	AHDC1	NM_001371928.1(AHDC1):c.107G>C:p.Arg36Pro	coding	Benign
1	27615765	G	A	G27615765A	FGR	NM_005248.3(FGR):c.762C>T:p.Asp254=	coding	Benign
1	28987182	C	A	C28987182A	EPB41	NM_001376013.1(EPB41):c.-7-249C>A	noncoding	Benign
1	28987557	A	G	A28987557G	EPB41	NM_001376013.1(EPB41):c.120A>G:p.Gln40=	coding	Benign
1	28993501	G	A	G28993501A	EPB41	NM_001376013.1(EPB41):c.640G>A:p.Val214Ile	coding	Benign
1	29018515	T	G	T29018515G	EPB41	NM_001376013.1(EPB41):c.1124+73T>G	noncoding	Benign
1	29030151	T	A	T29030151A	EPB41	NM_001376013.1(EPB41):c.1125-249T>A	noncoding	Benign
1	29053480	G	A	G29053480A	EPB41	NM_001376013.1(EPB41):c.1845+168G>A	noncoding	Benign
1	29058974	G	C	G29058974C	EPB41	NM_001376013.1(EPB41):c.1944+122G>C	noncoding	Benign
1	29064884	A	G	A29064884G	EPB41	NM_001376013.1(EPB41):c.2008-98A>G	noncoding	Benign
1	29109317	G	C	G29109317C	EPB41	NM_001376013.1(EPB41):c.2314-19G>C	noncoding	Benign
1	29112504	T	A	T29112504A	EPB41	NM_001376013.1(EPB41):c.2496+56T>A	noncoding	Benign
1	29115779	C	T	C29115779T	EPB41	NM_001376013.1(EPB41):c.2577C>T:p.Thr859=	coding	Benign
1	29195872	G	A	G29195872A	MECR	NM_016011.5(MECR):c.964+69C>T	noncoding	Benign
1	29195995	C	A	C29195995A	MECR	NM_016011.5(MECR):c.910G>T:p.Asp304Tyr	coding	Pathogenic
1	29200498	C	A	C29200498A	MECR	NM_016011.5(MECR):c.830+18G>T	noncoding	Benign/Likely_benign
1	29200633	C	T	C29200633T	MECR	NM_016011.5(MECR):c.757-44G>A	noncoding	Benign
1	29201900	G	C	G29201900C	MECR	NM_016011.5(MECR):c.756+43C>G	noncoding	Benign
1	29201927	C	T	C29201927T	MECR	NM_016011.5(MECR):c.756+16G>A	noncoding	Benign
1	29202004	C	T	C29202004T	MECR	NM_016011.5(MECR):c.695G>A:p.Gly232Glu	coding	Pathogenic/Likely_pathogenic
1	29203187	T	C	T29203187C	MECR	NM_016011.5(MECR):c.597A>G:p.Ala199=	coding	Benign
1	29203431	C	T	C29203431T	MECR	NM_016011.5(MECR):c.551-198G>A	noncoding	Benign
1	29206568	A	G	A29206568G	MECR	NM_016011.5(MECR):c.550+194T>C	noncoding	Benign
1	29207089	C	T	C29207089T	MECR	NM_016011.5(MECR):c.407-184G>A	noncoding	Benign
1	29215923	C	G	C29215923G	MECR	NM_016011.5(MECR):c.406+82G>C	noncoding	Benign
1	29216125	A	G	A29216125G	MECR	NM_016011.5(MECR):c.286T>C:p.Phe96Leu	coding	Benign
1	29216143	G	A	G29216143A	MECR	NM_016011.5(MECR):c.275-7C>T	noncoding	Benign/Likely_benign
1	29216414	A	T	A29216414T	MECR	NM_016011.5(MECR):c.274+174T>A	noncoding	Benign
1	29230712	C	T	C29230712T	MECR	NM_016011.5(MECR):c.176+19G>A	noncoding	Benign
1	30872938	T	A	T30872938A	SDC3	NM_014654.4(SDC3):c.*273A>T	noncoding	Benign
1	30873045	G	A	G30873045A	SDC3	NM_014654.4(SDC3):c.*166C>T	noncoding	Benign
1	30941125	T	C	T30941125C	PUM1	NM_001020658.2(PUM1):c.3242+26A>G	noncoding	Benign
1	30942090	G	A	G30942090A	PUM1	NM_001020658.2(PUM1):c.3028C>T:p.Arg1010Ter	coding	Pathogenic
1	30945272	C	T	C30945272T	PUM1	NM_001020658.2(PUM1):c.2994+74G>A	noncoding	Benign
1	30949952	C	T	C30949952T	PUM1	NM_001020658.2(PUM1):c.2856+175G>A	noncoding	Benign
1	30952042	G	A	G30952042A	PUM1	NM_001020658.2(PUM1):c.2721+192C>T	noncoding	Benign
1	30953953	G	C	G30953953C	PUM1	NM_001020658.2(PUM1):c.2352C>G:p.Tyr784Ter	coding	Pathogenic
1	30953968	A	G	A30953968G	PUM1	NM_001020658.2(PUM1):c.2337T>C:p.Asn779=	coding	Benign
1	30966399	C	T	C30966399T	PUM1	NM_001020658.2(PUM1):c.1790-121G>A	noncoding	Benign
1	30966433	G	C	G30966433C	PUM1	NM_001020658.2(PUM1):c.1790-155C>G	noncoding	Benign
1	30966445	T	C	T30966445C	PUM1	NM_001020658.2(PUM1):c.1790-167A>G	noncoding	Benign
1	30967514	T	C	T30967514C	PUM1	NM_001020658.2(PUM1):c.1646-204A>G	noncoding	Benign
1	30992185	C	G	C30992185G	PUM1	NM_001020658.2(PUM1):c.1158+205G>C	noncoding	Benign
1	30992784	A	G	A30992784G	PUM1	NM_001020658.2(PUM1):c.888-124T>C	noncoding	Benign
1	31005659	A	G	A31005659G	PUM1	NM_001020658.2(PUM1):c.720+194T>C	noncoding	Benign
1	31006158	C	T	C31006158T	PUM1	NM_001020658.2(PUM1):c.542-127G>A	noncoding	Benign
1	31028908	T	C	T31028908C	PUM1	NM_001020658.2(PUM1):c.364-44A>G	noncoding	Benign
1	31699894	G	T	G31699894T	COL16A1	NM_001856.4(COL16A1):c.185C>A:p.Thr62Lys	coding	Benign
1	31727448	G	A	G31727448A	ADGRB2	NM_001364857.2(ADGRB2):c.4730C>T:p.Pro1577Leu	coding	Benign
1	31727584	G	A	G31727584A	ADGRB2	NM_001364857.2(ADGRB2):c.4594C>T:p.Arg1532Cys	coding	Benign
1	31728046	T	C	T31728046C	ADGRB2	NM_001364857.2(ADGRB2):c.4551A>G:p.Ala1517=	coding	Benign
1	31728098	C	T	C31728098T	ADGRB2	NM_001364857.2(ADGRB2):c.4516-17G>A	noncoding	Benign
1	31730905	C	T	C31730905T	ADGRB2	NM_001364857.2(ADGRB2):c.4275G>A:p.Pro1425=	coding	Benign
1	31731046	C	G	C31731046G	ADGRB2	NM_001364857.2(ADGRB2):c.4134G>C:p.Pro1378=	coding	Benign
1	31731067	C	G	C31731067G	ADGRB2	NM_001364857.2(ADGRB2):c.4113G>C:p.Glu1371Asp	coding	Benign
1	31731288	G	A	G31731288A	ADGRB2	NM_001364857.2(ADGRB2):c.3892C>T:p.Leu1298=	coding	Benign
1	31732104	G	A	G31732104A	ADGRB2	NM_001364857.2(ADGRB2):c.3760+11C>T	noncoding	Benign
1	31735568	C	T	C31735568T	ADGRB2	NM_001364857.2(ADGRB2):c.3353+12G>A	noncoding	Benign
1	31735569	C	G	C31735569G	ADGRB2	NM_001364857.2(ADGRB2):c.3353+11G>C	noncoding	Benign
1	31735816	C	T	C31735816T	ADGRB2	NM_001364857.2(ADGRB2):c.3267+11G>A	noncoding	Benign
1	31735872	G	A	G31735872A	ADGRB2	NM_001364857.2(ADGRB2):c.3222C>T:p.Gly1074=	coding	Benign
1	31735901	G	C	G31735901C	ADGRB2	NM_001364857.2(ADGRB2):c.3201-8C>G	noncoding	Benign
1	31738925	G	A	G31738925A	ADGRB2	NM_001364857.2(ADGRB2):c.2508C>T:p.Ala836=	coding	Benign
1	31739355	G	A	G31739355A	ADGRB2	NM_001364857.2(ADGRB2):c.2448C>T:p.Ile816=	coding	Benign
1	31739653	T	G	T31739653G	ADGRB2	NM_001364857.2(ADGRB2):c.2168-18A>C	noncoding	Benign
1	31741980	T	G	T31741980G	ADGRB2	NM_001364857.2(ADGRB2):c.1418-13A>C	noncoding	Benign
1	31756312	G	A	G31756312A	ADGRB2	NM_001364857.2(ADGRB2):c.525C>T:p.Pro175=	coding	Benign
1	32202008	C	T	C32202008T	CCDC28B	NM_024296.5(CCDC28B):c.73C>T:p.Arg25Trp	coding	Benign
1	32203676	C	A	C32203676A	CCDC28B	NM_024296.5(CCDC28B):c.165-203C>A	noncoding	Benign
1	32205429	C	T	C32205429T	CCDC28B	Single_allele	noncoding	Benign
1	32205464	A	C	A32205464C	CCDC28B	Single_allele	noncoding	Benign
1	32205473	G	A	G32205473A	CCDC28B	Single_allele	noncoding	Benign
1	32229218	A	G	A32229218G	EIF3I	NM_003757.4(EIF3I):c.803+10A>G	noncoding	Benign
1	32275558	G	T	G32275558T	LCK	NM_005356.5(LCK):c.378-11G>T	noncoding	Benign
1	32280324	T	C	T32280324C	LCK	NM_005356.5(LCK):c.1327+114T>C	noncoding	Benign
1	32285909	A	G	A32285909G	LCK	NM_005356.5(LCK):c.*193A>G	noncoding	Benign
1	32668367	T	C	T32668367C	RBBP4	NM_005610.3(RBBP4):c.453T>C:p.Val151=	coding	Benign
1	32672915	A	C	A32672915C	RBBP4	NM_005610.3(RBBP4):c.1212+14A>C	noncoding	Benign
1	32775995	C	T	C32775995T	YARS1	NM_003680.4(YARS1):c.1573G>A:p.Gly525Arg	coding	Pathogenic
1	32779078	C	G	C32779078G	YARS1	NM_003680.4(YARS1):c.1476+304G>C	noncoding	Benign
1	32780839	T	C	T32780839C	YARS1	NM_003680.4(YARS1):c.1140+209A>G	noncoding	Benign
1	32786954	A	G	A32786954G	YARS1	NM_003680.4(YARS1):c.806T>C:p.Phe269Ser	coding	Pathogenic/Likely_pathogenic
1	32791208	G	A	G32791208A	YARS1	NM_003680.4(YARS1):c.638C>T:p.Pro213Leu	coding	Pathogenic
1	32810380	T	C	T32810380C	YARS1	NM_003680.4(YARS1):c.380+211A>G	noncoding	Benign
1	32810863	G	A	G32810863A	YARS1	NM_003680.4(YARS1):c.204+48C>T	noncoding	Benign
1	32810994	C	T	C32810994T	YARS1	NM_003680.4(YARS1):c.121G>A:p.Gly41Arg	coding	Pathogenic
1	32811052	A	G	A32811052G	YARS1	NM_003680.4(YARS1):c.63T>C:p.Val21=	coding	Benign/Likely_benign
1	32817014	G	A	G32817014A	YARS1	NM_003680.4(YARS1):c.57+174C>T	noncoding	Benign
1	32862564	G	A	G32862564A	FNDC5	NM_153756.3(FNDC5):c.*1730C>T	noncoding	Benign
1	32867503	G	A	G32867503A	FNDC5	NM_153756.3(FNDC5):c.499+250C>T	noncoding	Benign
1	32893264	C	T	C32893264T	HPCA	NM_002143.3(HPCA):c.379-260C>T	noncoding	Benign
1	32893644	C	T	C32893644T	HPCA	NM_002143.3(HPCA):c.484+15C>T	noncoding	Benign
1	33010544	T	C	T33010544C	AK2	NM_001625.4(AK2):c.*2637A>G	noncoding	Benign
1	33011126	G	A	G33011126A	AK2	NM_001625.4(AK2):c.*2055C>T	noncoding	Benign
1	33013319	G	A	G33013319A	AK2	NM_001625.4(AK2):c.582C>T:p.Thr194=	coding	Benign
1	33013356	G	T	G33013356T	AK2	NM_001625.4(AK2):c.545C>A:p.Ala182Asp	coding	Pathogenic/Likely_pathogenic
1	33013358	C	G	C33013358G	AK2	NM_001625.4(AK2):c.543G>C:p.Lys181Asn	coding	Benign
1	33013413	G	A	G33013413A	AK2	NM_001625.4(AK2):c.499-11C>T	noncoding	Benign
1	33014260	T	C	T33014260C	AK2	NM_001625.4(AK2):c.498+262A>G	noncoding	Benign
1	33014480	G	C	G33014480C	AK2	NM_001625.4(AK2):c.498+42C>G	noncoding	Benign
1	33014763	G	A	G33014763A	AK2	NM_001625.4(AK2):c.426-169C>T	noncoding	Benign
1	33021334	A	T	A33021334T	AK2	NM_001625.4(AK2):c.425+33T>A	noncoding	Benign
1	33021383	G	A	G33021383A	AK2	NM_001625.4(AK2):c.409C>T:p.Arg137Ter	coding	Pathogenic
1	33024734	A	G	A33024734G	AK2	NM_001625.4(AK2):c.94-167T>C	noncoding	Benign
1	33024821	G	A	G33024821A	AK2	NM_001625.4(AK2):c.94-254C>T	noncoding	Benign
1	33036583	G	A	G33036583A	AK2	NM_001625.4(AK2):c.93+153C>T	noncoding	Benign
1	33036610	G	A	G33036610A	AK2	NM_001625.4(AK2):c.93+126C>T	noncoding	Benign
1	33036775	G	A	G33036775A	AK2	NM_001625.4(AK2):c.54C>T:p.Ala18=	coding	Benign
1	34760655	T	C	T34760655C	GJB4	NM_153212.3(GJB4):c.-322-278T>C	noncoding	Benign
1	34761440	C	T	C34761440T	GJB4	NM_153212.3(GJB4):c.186C>T:p.Asn62=	coding	Benign
1	34761561	C	T	C34761561T	GJB4	NM_153212.3(GJB4):c.307C>T:p.Arg103Cys	coding	Benign
1	34761640	G	A	G34761640A	GJB4	NM_153212.3(GJB4):c.386G>A:p.Trp129Ter	coding	Pathogenic/Likely_pathogenic
1	34761705	C	A	C34761705A	GJB4	NM_153212.3(GJB4):c.451C>A:p.Arg151Ser	coding	Benign
1	34761796	C	T	C34761796T	GJB4	NM_153212.3(GJB4):c.542C>T:p.Thr181Met	coding	Benign
1	34762115	A	C	A34762115C	GJB4	NM_153212.3(GJB4):c.*60A>C	noncoding	Benign
1	34785342	G	A	G34785342A	GJB3	NM_024009.3(GJB3):c.580G>A:p.Ala194Thr	coding	Benign/Likely_benign
1	34794334	G	T	G34794334T	GJA4	NM_002060.3(GJA4):c.121G>T:p.Gly41Cys	coding	Pathogenic
1	35565516	C	T	C35565516T	NCDN	NM_014284.3(NCDN):c.2043C>T:p.Pro681_Glu682=	coding	Benign
1	35883453	G	A	G35883453A	AGO1	NM_012199.5(AGO1):c.25+7G>A	noncoding	Benign
1	36084643	G	C	G36084643C	TEKT2	NM_014466.3(TEKT2):c.-52-227G>C	noncoding	Benign
1	36085057	C	T	C36085057T	TEKT2	NM_014466.3(TEKT2):c.136C>T:p.Arg46Cys	coding	Benign
1	36086294	A	G	A36086294G	TEKT2	NM_014466.3(TEKT2):c.488+253A>G	noncoding	Benign
1	36088072	A	G	A36088072G	TEKT2	NM_014466.3(TEKT2):c.1179A>G:p.Thr393=	coding	Benign
1	36088235	A	C	A36088235C	TEKT2	NM_014466.3(TEKT2):c.*49A>C	noncoding	Benign
1	36097557	C	A	C36097557A	COL8A2	NM_005202.4(COL8A2):c.*12G>T	noncoding	Benign
1	36097923	G	A	G36097923A	COL8A2	NM_005202.4(COL8A2):c.1758C>T:p.Pro586=	coding	Benign
1	36097957	G	A	G36097957A	COL8A2	NM_005202.4(COL8A2):c.1724C>T:p.Pro575Leu	coding	Benign
1	36097982	C	T	C36097982T	COL8A2	NM_005202.4(COL8A2):c.1699G>A:p.Gly567Ser	coding	Benign
1	36098176	G	A	G36098176A	COL8A2	NM_005202.4(COL8A2):c.1505C>T:p.Thr502Met	coding	Benign
1	36098196	C	T	C36098196T	COL8A2	NM_005202.4(COL8A2):c.1485G>A:p.Gly495=	coding	Benign
1	36098358	T	C	T36098358C	COL8A2	NM_005202.4(COL8A2):c.1323A>G:p.Ala441=	coding	Benign
1	36098676	G	C	G36098676C	COL8A2	NM_005202.4(COL8A2):c.1005C>G:p.Leu335=	coding	Benign
1	36099217	C	T	C36099217T	COL8A2	NM_005202.4(COL8A2):c.464G>A:p.Arg155Gln	coding	Benign
1	36099384	T	C	T36099384C	COL8A2	NM_005202.4(COL8A2):c.297A>G:p.Lys99=	coding	Benign
1	36099497	A	G	A36099497G	COL8A2	NM_005202.4(COL8A2):c.194-10T>C	noncoding	Benign
1	36099574	G	A	G36099574A	COL8A2	NM_005202.4(COL8A2):c.194-87C>T	noncoding	Benign
1	36099761	T	C	T36099761C	COL8A2	NM_005202.4(COL8A2):c.194-274A>G	noncoding	Benign
1	36099864	C	T	C36099864T	COL8A2	NM_005202.4(COL8A2):c.193+186G>A	noncoding	Benign
1	36099983	C	G	C36099983G	COL8A2	NM_005202.4(COL8A2):c.193+67G>C	noncoding	Benign
1	36100016	G	A	G36100016A	COL8A2	NM_005202.4(COL8A2):c.193+34C>T	noncoding	Benign
1	36100138	C	T	C36100138T	COL8A2	NM_005202.4(COL8A2):c.105G>A:p.Ala35=	coding	Benign
1	36100236	C	T	C36100236T	COL8A2	NM_005202.4(COL8A2):c.7G>A:p.Gly3Arg	coding	Benign
1	36100398	A	G	A36100398G	COL8A2	NM_005202.4(COL8A2):c.-16-140T>C	noncoding	Benign
1	36137342	C	T	C36137342T	TRAPPC3	NM_014408.5(TRAPPC3):c.424-20G>A	noncoding	Benign
1	36149373	C	T	C36149373T	TRAPPC3	NM_014408.5(TRAPPC3):c.6G>A:p.Ser2=	coding	Benign
1	36465772	C	T	C36465772T	CSF3R	Single_allele	noncoding	Benign
1	36466608	G	A	G36466608A	CSF3R	NM_000760.4(CSF3R):c.2260C>T:p.Gln754Ter	coding	Pathogenic
1	36466623	G	A	G36466623A	CSF3R	NM_000760.4(CSF3R):c.2245C>T:p.Gln749Ter	coding	Pathogenic
1	36466647	G	A	G36466647A	CSF3R	NM_000760.4(CSF3R):c.2221C>T:p.Gln741Ter	coding	Pathogenic
1	36466734	G	A	G36466734A	CSF3R	NM_000760.4(CSF3R):c.2134C>T:p.His712Tyr	coding	Pathogenic
1	36467495	T	C	T36467495C	CSF3R	NM_000760.4(CSF3R):c.1958+63A>G	noncoding	Benign
1	36467716	C	T	C36467716T	CSF3R	NM_000760.4(CSF3R):c.1865-65G>A	noncoding	Benign
1	36467833	G	A	G36467833A	CSF3R	NM_000760.4(CSF3R):c.1853C>T:p.Thr618Ile	coding	Pathogenic/Likely_pathogenic
1	36468233	G	C	G36468233C	CSF3R	NM_000760.4(CSF3R):c.1577-12C>G	noncoding	Benign/Likely_benign
1	36469066	T	C	T36469066C	CSF3R	NM_000760.4(CSF3R):c.1576+90A>G	noncoding	Benign
1	36469207	G	A	G36469207A	CSF3R	NM_000760.4(CSF3R):c.1525C>T:p.Gln509Ter	coding	Pathogenic
1	36469375	C	T	C36469375T	CSF3R	NM_000760.4(CSF3R):c.1475-118G>A	noncoding	Benign
1	36469527	G	A	G36469527A	CSF3R	NM_000760.4(CSF3R):c.1474+125C>T	noncoding	Benign
1	36469738	C	T	C36469738T	CSF3R	NM_000760.4(CSF3R):c.1388G>A:p.Trp463Ter	coding	Pathogenic
1	36470118	C	T	C36470118T	CSF3R	NM_000760.4(CSF3R):c.1286-278G>A	noncoding	Benign
1	36471338	C	T	C36471338T	CSF3R	NM_000760.4(CSF3R):c.1285+95G>A	noncoding	Benign
1	36471647	C	G	C36471647G	CSF3R	NM_000760.4(CSF3R):c.1072-1G>C	coding	Pathogenic
1	36471791	T	C	T36471791C	CSF3R	NM_000760.4(CSF3R):c.1072-145A>G	noncoding	Benign
1	36471813	G	T	G36471813T	CSF3R	NM_000760.4(CSF3R):c.1072-167C>A	noncoding	Benign
1	36471895	G	A	G36471895A	CSF3R	NM_000760.4(CSF3R):c.1071+171C>T	noncoding	Benign
1	36472013	G	A	G36472013A	CSF3R	NM_000760.4(CSF3R):c.1071+53C>T	noncoding	Benign
1	36472515	A	G	A36472515G	CSF3R	NM_000760.4(CSF3R):c.843+2T>C	noncoding	Pathogenic
1	36473153	C	G	C36473153G	CSF3R	NM_000760.4(CSF3R):c.673+282G>C	noncoding	Benign
1	36475119	C	G	C36475119G	CSF3R	NM_000760.4(CSF3R):c.361+258G>C	noncoding	Benign
1	36475549	C	T	C36475549T	CSF3R	NM_000760.4(CSF3R):c.189G>A:p.Trp63Ter	coding	Pathogenic
1	36475660	G	T	G36475660T	CSF3R	NM_000760.4(CSF3R):c.78C>A:p.Cys26Ter	coding	Pathogenic
1	36479465	C	T	C36479465T	CSF3R	NM_000760.4(CSF3R):c.32G>A:p.Trp11Ter	coding	Pathogenic
1	37540204	T	C	T37540204C	SNIP1	NM_024700.4(SNIP1):c.879A>G:p.Pro293=	coding	Benign
1	37540758	A	G	A37540758G	SNIP1	NM_024700.4(SNIP1):c.328-3T>C	noncoding	Benign
1	37554044	G	A	G37554044A	SNIP1	NM_024700.4(SNIP1):c.186C>T:p.Arg62=	coding	Benign
1	37554146	C	T	C37554146T	SNIP1	NM_024700.4(SNIP1):c.84G>A:p.Val28=	coding	Benign
1	37612628	A	G	A37612628G	RSPO1	NM_001242908.2(RSPO1):c.*127T>C	noncoding	Benign
1	37612958	A	T	A37612958T	RSPO1	NM_001242908.2(RSPO1):c.626-37T>A	noncoding	Benign
1	37613845	T	G	T37613845G	RSPO1	NM_001242908.2(RSPO1):c.484A>C:p.Lys162Gln	coding	Benign
1	37614393	C	A	C37614393A	RSPO1	NM_001242908.2(RSPO1):c.287-60G>T	noncoding	Benign
1	37616450	G	A	G37616450A	RSPO1	NM_001242908.2(RSPO1):c.286+34C>T	noncoding	Benign
1	37616451	C	T	C37616451T	RSPO1	NM_001242908.2(RSPO1):c.286+33G>A	noncoding	Benign
1	37616709	G	C	G37616709C	RSPO1	NM_001242908.2(RSPO1):c.95-34C>G	noncoding	Benign
1	37629364	A	G	A37629364G	RSPO1	NM_001242908.2(RSPO1):c.94+204T>C	noncoding	Benign
1	37630132	C	T	C37630132T	RSPO1	NM_001242908.2(RSPO1):c.-288-183G>A	noncoding	Benign
1	37630288	C	A	C37630288A	RSPO1	NM_001242908.2(RSPO1):c.-288-339G>T	noncoding	Benign
1	37804407	A	G	A37804407G	YRDC	NM_024640.4(YRDC):c.662T>C:p.Ile221Thr	coding	Pathogenic
1	37807930	G	A	G37807930A	YRDC	NM_024640.4(YRDC):c.251C>T:p.Ala84Val	coding	Pathogenic
1	37862310	G	T	G37862310T	INPP5B	NM_005540.3(INPP5B):c.*5C>A	noncoding	Benign
1	37864327	C	G	C37864327G	INPP5B	NM_005540.3(INPP5B):c.2611G>C:p.Asp871His	coding	Benign
1	37866127	C	G	C37866127G	INPP5B	NM_005540.3(INPP5B):c.2387-239G>C	noncoding	Benign
1	37868645	T	A	T37868645A	INPP5B	NM_005540.3(INPP5B):c.2188-31A>T	noncoding	Benign
1	37868646	C	A	C37868646A	INPP5B	NM_005540.3(INPP5B):c.2188-32G>T	noncoding	Benign
1	37873123	A	G	A37873123G	INPP5B	NM_005540.3(INPP5B):c.1994T>C:p.Met665Thr	coding	Benign
1	37873987	C	T	C37873987T	INPP5B	NM_005540.3(INPP5B):c.1951+6G>A	noncoding	Benign
1	37875846	G	A	G37875846A	INPP5B	NM_005540.3(INPP5B):c.1678-130C>T	noncoding	Benign
1	37875944	C	A	C37875944A	INPP5B	NM_005540.3(INPP5B):c.1678-228G>T	noncoding	Benign
1	37880224	A	C	A37880224C	INPP5B	NM_005540.3(INPP5B):c.1432-30T>G	noncoding	Benign
1	37882834	G	A	G37882834A	INPP5B	NM_005540.3(INPP5B):c.1404C>T:p.Asp468=	coding	Benign
1	37887177	G	C	G37887177C	INPP5B	NM_005540.3(INPP5B):c.1015-173C>G	noncoding	Benign
1	37888574	G	A	G37888574A	INPP5B	NM_005540.3(INPP5B):c.798-230C>T	noncoding	Benign
1	37889431	G	T	G37889431T	INPP5B	NM_005540.3(INPP5B):c.797+126C>A	noncoding	Benign
1	37889848	A	G	A37889848G	INPP5B	NM_005540.3(INPP5B):c.630-124T>C	noncoding	Benign
1	37931697	C	T	C37931697T	INPP5B	NM_005540.3(INPP5B):c.532+216G>A	coding	Benign
1	37931852	C	T	C37931852T	INPP5B	NM_005540.3(INPP5B):c.532+61G>A	noncoding	Benign
1	37932149	C	T	C37932149T	INPP5B	NM_005540.3(INPP5B):c.392-96G>A	noncoding	Benign
1	37940954	A	G	A37940954G	INPP5B	NM_005540.3(INPP5B):c.281-156T>C	noncoding	Benign
1	37943431	G	C	G37943431C	INPP5B	NM_005540.3(INPP5B):c.280+209C>G	noncoding	Benign
1	37943440	T	A	T37943440A	INPP5B	NM_005540.3(INPP5B):c.280+200A>T	noncoding	Benign
1	37943723	C	T	C37943723T	INPP5B	NM_005540.3(INPP5B):c.251-54G>A	noncoding	Benign
1	37943944	G	A	G37943944A	INPP5B	NM_005540.3(INPP5B):c.153-51C>T	noncoding	Benign
1	37943963	G	A	G37943963A	INPP5B	NM_005540.3(INPP5B):c.153-70C>T	noncoding	Benign
1	37945603	A	G	A37945603G	INPP5B	NM_005540.3(INPP5B):c.152+153T>C	noncoding	Benign
1	37945678	C	T	C37945678T	INPP5B	NM_005540.3(INPP5B):c.152+78G>A	noncoding	Benign
1	37945773	G	A	G37945773A	INPP5B	NM_005540.3(INPP5B):c.135C>T:p.His45=	coding	Benign
1	37946376	T	C	T37946376C	INPP5B	NM_005540.3(INPP5B):c.-26-42A>G	noncoding	Benign
1	38859391	T	C	T38859391C	RRAGC	NM_022157.4(RRAGC):c.237+19A>G	noncoding	Benign
1	39084311	G	A	G39084311A	MACF1	NM_012090.5(MACF1):c.93G>A:p.Ser31_Gly32=	coding	Benign
1	39084466	C	T	C39084466T	MACF1	NM_012090.5(MACF1):c.220+28C>T	noncoding	Benign
1	39084538	C	T	C39084538T	MACF1	NM_012090.5(MACF1):c.220+100C>T	noncoding	Benign
1	39084589	C	T	C39084589T	MACF1	NM_012090.5(MACF1):c.220+151C>T	noncoding	Benign
1	39230972	G	A	G39230972A	MACF1	NM_001394062.1(MACF1):c.110-210G>A	noncoding	Benign
1	39230975	G	A	G39230975A	MACF1	NM_001394062.1(MACF1):c.110-207G>A	noncoding	Benign
1	39231046	C	A	C39231046A	MACF1	NM_001394062.1(MACF1):c.110-136C>A	noncoding	Benign
1	39254140	G	A	G39254140A	MACF1	NM_001394062.1(MACF1):c.358-158G>A	noncoding	Benign
1	39282456	T	C	T39282456C	MACF1	NM_001394062.1(MACF1):c.695+82T>C	noncoding	Benign
1	39282562	C	T	C39282562T	MACF1	NM_001394062.1(MACF1):c.695+188C>T	noncoding	Benign
1	39282990	G	A	G39282990A	MACF1	NM_001394062.1(MACF1):c.696-199G>A	noncoding	Benign
1	39283113	A	G	A39283113G	MACF1	NM_001394062.1(MACF1):c.696-76A>G	noncoding	Benign
1	39283249	G	A	G39283249A	MACF1	NM_001394062.1(MACF1):c.756G>A:p.Gln252=	coding	Benign
1	39284212	G	T	G39284212T	MACF1	NM_001394062.1(MACF1):c.1035+27G>T	noncoding	Benign
1	39284526	A	G	A39284526G	MACF1	NM_001394062.1(MACF1):c.1131+98A>G	noncoding	Benign
1	39285767	C	T	C39285767T	MACF1	NM_001394062.1(MACF1):c.1508+9C>T	noncoding	Benign
1	39292127	G	C	G39292127C	MACF1	NM_001394062.1(MACF1):c.1914+89G>C	noncoding	Benign
1	39292962	G	A	G39292962A	MACF1	NM_001394062.1(MACF1):c.1992+119G>A	noncoding	Benign
1	39293283	A	G	A39293283G	MACF1	NM_001394062.1(MACF1):c.1993-175A>G	noncoding	Benign
1	39293321	C	G	C39293321G	MACF1	NM_001394062.1(MACF1):c.1993-137C>G	noncoding	Benign
1	39295834	G	C	G39295834C	MACF1	NM_001394062.1(MACF1):c.2307G>C:p.Leu769=	coding	Benign
1	39297570	G	A	G39297570A	MACF1	NM_001394062.1(MACF1):c.2356-50G>A	noncoding	Benign
1	39300369	A	G	A39300369G	MACF1	NM_001394062.1(MACF1):c.2634+7A>G	noncoding	Benign
1	39300383	C	T	C39300383T	MACF1	NM_001394062.1(MACF1):c.2634+21C>T	noncoding	Benign
1	39309573	C	T	C39309573T	MACF1	NM_001394062.1(MACF1):c.2793C>T:p.Val931=	coding	Benign
1	39309631	A	G	A39309631G	MACF1	NM_001394062.1(MACF1):c.2851A>G:p.Ser951Gly	coding	Benign
1	39316182	A	G	A39316182G	MACF1	NM_001394062.1(MACF1):c.3450-209A>G	noncoding	Benign
1	39316736	T	A	T39316736A	MACF1	NM_001394062.1(MACF1):c.3588+207T>A	noncoding	Benign
1	39317321	G	A	G39317321A	MACF1	NM_001394062.1(MACF1):c.3696G>A:p.Glu1232=	coding	Benign
1	39317433	C	T	C39317433T	MACF1	NM_001394062.1(MACF1):c.3782+26C>T	noncoding	Benign
1	39318394	A	C	A39318394C	MACF1	NM_001394062.1(MACF1):c.3783-59A>C	noncoding	Benign
1	39318594	G	A	G39318594A	MACF1	NM_001394062.1(MACF1):c.3924G>A:p.Ser1308=	coding	Benign
1	39318629	T	C	T39318629C	MACF1	NM_001394062.1(MACF1):c.3945+14T>C	noncoding	Benign
1	39318686	G	A	G39318686A	MACF1	NM_001394062.1(MACF1):c.3945+71G>A	noncoding	Benign
1	39322522	C	T	C39322522T	MACF1	NM_001394062.1(MACF1):c.4030-86C>T	noncoding	Benign
1	39323089	C	G	C39323089G	MACF1	NM_001394062.1(MACF1):c.4236+81C>G	noncoding	Benign
1	39327559	C	A	C39327559A	MACF1	NM_001394062.1(MACF1):c.4614+206C>A	noncoding	Benign
1	39349288	C	T	C39349288T	MACF1	NM_001394062.1(MACF1):c.10816-190C>T	noncoding	Benign
1	39349471	T	A	T39349471A	MACF1	NM_001394062.1(MACF1):c.10816-7T>A	noncoding	Benign
1	39349672	G	A	G39349672A	MACF1	NM_001394062.1(MACF1):c.10965+45G>A	noncoding	Benign
1	39350874	G	A	G39350874A	MACF1	NM_001394062.1(MACF1):c.11055G>A:p.Lys3685=	coding	Benign
1	39350940	G	A	G39350940A	MACF1	NM_001394062.1(MACF1):c.11121G>A:p.Ala3707=	coding	Benign
1	39352981	C	T	C39352981T	MACF1	NM_001394062.1(MACF1):c.11200-26C>T	noncoding	Benign
1	39353409	C	G	C39353409G	MACF1	NM_001394062.1(MACF1):c.11424+178C>G	noncoding	Benign
1	39358747	A	G	A39358747G	MACF1	NM_001394062.1(MACF1):c.11994A>G:p.Gln3998_Phe3999=	coding	Benign
1	39359046	C	G	C39359046G	MACF1	NM_001394062.1(MACF1):c.12121-95C>G	noncoding	Benign
1	39360747	T	C	T39360747C	MACF1	NM_001394062.1(MACF1):c.12245-46T>C	noncoding	Benign
1	39360813	C	T	C39360813T	MACF1	NM_001394062.1(MACF1):c.12265C>T:p.Gln4089Ter	coding	Pathogenic
1	39369868	T	C	T39369868C	MACF1	NM_001394062.1(MACF1):c.12939-162T>C	noncoding	Benign
1	39370145	A	G	A39370145G	MACF1	NM_001394062.1(MACF1):c.13054A>G:p.Met4352Val	coding	Benign
1	39372502	T	C	T39372502C	MACF1	NM_001394062.1(MACF1):c.13119T>C:p.Ser4373=	coding	Benign
1	39372528	A	G	A39372528G	MACF1	NM_001394062.1(MACF1):c.13145A>G:p.Asn4382Ser	coding	Benign
1	39378286	G	A	G39378286A	MACF1	NM_001394062.1(MACF1):c.13214-175G>A	noncoding	Benign
1	39379036	T	C	T39379036C	MACF1	NM_001394062.1(MACF1):c.13277-167T>C	noncoding	Benign
1	39379624	T	G	T39379624G	MACF1	NM_001394062.1(MACF1):c.13518+180T>G	noncoding	Benign
1	39380366	A	G	A39380366G	MACF1	NM_001394062.1(MACF1):c.13641A>G:p.Glu4547=	coding	Benign
1	39380595	G	A	G39380595A	MACF1	NM_001394062.1(MACF1):c.13648+222G>A	noncoding	Benign
1	39382058	G	A	G39382058A	MACF1	NM_001394062.1(MACF1):c.13754G>A:p.Arg4585Gln	coding	Benign
1	39387318	T	C	T39387318C	MACF1	NM_001394062.1(MACF1):c.14476T>C:p.Leu4826_Glu4827=	coding	Benign
1	39387968	A	C	A39387968C	MACF1	NM_001394062.1(MACF1):c.15126A>C:p.Gln5042His	coding	Benign/Likely_benign
1	39388128	G	A	G39388128A	MACF1	NM_001394062.1(MACF1):c.15286G>A:p.Ala5096Thr	coding	Benign
1	39424005	G	A	G39424005A	MACF1	NM_001394062.1(MACF1):c.16150-23G>A	noncoding	Benign
1	39427421	C	T	C39427421T	MACF1	NM_001394062.1(MACF1):c.16317-34C>T	noncoding	Benign
1	39427912	T	C	T39427912C	MACF1	NM_001394062.1(MACF1):c.16477-49T>C	noncoding	Benign
1	39429139	T	C	T39429139C	MACF1	NM_001394062.1(MACF1):c.16804-103T>C	noncoding	Benign
1	39429167	A	G	A39429167G	MACF1	NM_001394062.1(MACF1):c.16804-75A>G	noncoding	Benign
1	39429609	G	A	G39429609A	MACF1	NM_001394062.1(MACF1):c.16889-218G>A	noncoding	Benign
1	39429788	G	A	G39429788A	MACF1	NM_001394062.1(MACF1):c.16889-39G>A	noncoding	Benign
1	39430287	A	G	A39430287G	MACF1	NM_001394062.1(MACF1):c.17130+219A>G	noncoding	Benign
1	39432972	A	G	A39432972G	MACF1	NM_001394062.1(MACF1):c.17458-76A>G	noncoding	Benign
1	39434408	A	T	A39434408T	MACF1	NM_001394062.1(MACF1):c.17566-6A>T	noncoding	Benign
1	39436695	T	A	T39436695A	MACF1	NM_001394062.1(MACF1):c.17988+934T>A	noncoding	Benign
1	39440987	A	G	A39440987G	MACF1	NM_001394062.1(MACF1):c.18448-16A>G	noncoding	Benign
1	39442277	A	G	A39442277G	MACF1	NM_001394062.1(MACF1):c.18905A>G:p.Lys6302Arg	coding	Benign
1	39442363	C	G	C39442363G	MACF1	NM_001394062.1(MACF1):c.18948+43C>G	noncoding	Benign
1	39442758	A	C	A39442758C	MACF1	NM_001394062.1(MACF1):c.19149A>C:p.Thr6383=	coding	Benign
1	39442834	G	A	G39442834A	MACF1	NM_001394062.1(MACF1):c.19225G>A:p.Ala6409Thr	coding	Benign
1	39443029	G	A	G39443029A	MACF1	NM_001394062.1(MACF1):c.19302+118G>A	noncoding	Benign
1	39443054	A	G	A39443054G	MACF1	NM_001394062.1(MACF1):c.19302+143A>G	noncoding	Benign
1	39444585	A	T	A39444585T	MACF1	NM_001394062.1(MACF1):c.19432-77A>T	noncoding	Benign
1	39445012	T	C	T39445012C	MACF1	NM_001394062.1(MACF1):c.19605+177T>C	noncoding	Benign
1	39447679	A	G	A39447679G	MACF1	NM_001394062.1(MACF1):c.19762-13A>G	noncoding	Benign
1	39447971	C	G	C39447971G	MACF1	NM_001394062.1(MACF1):c.19969-62C>G	noncoding	Benign
1	39448418	G	A	G39448418A	MACF1	NM_001394062.1(MACF1):c.20089-176G>A	noncoding	Benign
1	39448480	G	A	G39448480A	MACF1	NM_001394062.1(MACF1):c.20089-114G>A	noncoding	Benign
1	39448691	G	C	G39448691C	MACF1	NM_001394062.1(MACF1):c.20186G>C:p.Ser6729Thr	coding	Benign
1	39448727	A	T	A39448727T	MACF1	NM_001394062.1(MACF1):c.20222A>T:p.Asp6741Val	coding	Benign
1	39452216	C	A	C39452216A	MACF1	NM_001394062.1(MACF1):c.20479C>A:p.Arg6827=	coding	Benign
1	39453562	A	G	A39453562G	MACF1	NM_001394062.1(MACF1):c.20743-145A>G	noncoding	Benign
1	39453674	T	G	T39453674G	MACF1	NM_001394062.1(MACF1):c.20743-33T>G	noncoding	Benign
1	39453944	C	T	C39453944T	MACF1	NM_001394062.1(MACF1):c.20886+94C>T	noncoding	Benign
1	39458494	T	A	T39458494A	MACF1	NM_001394062.1(MACF1):c.21196+4T>A	noncoding	Benign
1	39461835	G	A	G39461835A	MACF1	NM_001394062.1(MACF1):c.21524-48G>A	noncoding	Benign
1	39463568	T	C	T39463568C	MACF1	NM_001394062.1(MACF1):c.21679-44T>C	noncoding	Benign
1	39463744	C	T	C39463744T	MACF1	NM_001394062.1(MACF1):c.21753+58C>T	noncoding	Benign
1	39468721	A	T	A39468721T	MACF1	NM_001394062.1(MACF1):c.21878A>T:p.Asp7293Val	coding	Pathogenic
1	39468827	G	C	G39468827C	MACF1	NM_001394062.1(MACF1):c.21889+95G>C	noncoding	Benign
1	39479625	C	T	C39479625T	MACF1	NM_001394062.1(MACF1):c.21959-173C>T	noncoding	Benign
1	39484408	C	T	C39484408T	MACF1	NM_001394062.1(MACF1):c.22282-193C>T	noncoding	Benign
1	39484705	C	T	C39484705T	MACF1	NM_001394062.1(MACF1):c.22386C>T:p.Ser7462=	coding	Benign
1	39484869	G	A	G39484869A	MACF1	NM_001394062.1(MACF1):c.22411+139G>A	noncoding	Benign
1	39844549	G	A	G39844549A	TRIT1	NM_017646.6(TRIT1):c.1098C>T:p.Ile366=	coding	Benign
1	39847259	G	A	G39847259A	TRIT1	NM_017646.6(TRIT1):c.967C>T:p.Arg323Trp	coding	Pathogenic/Likely_pathogenic
1	39849861	T	C	T39849861C	TRIT1	NM_017646.6(TRIT1):c.703+258A>G	noncoding	Benign
1	39850208	C	A	C39850208A	TRIT1	NM_017646.6(TRIT1):c.614G>T:p.Arg205Leu	coding	Benign
1	39850216	A	T	A39850216T	TRIT1	NM_017646.6(TRIT1):c.606T>A:p.Phe202Leu	coding	Benign
1	39850254	G	A	G39850254A	TRIT1	NM_017646.6(TRIT1):c.568C>T:p.Gln190Ter	coding	Pathogenic
1	39850483	C	T	C39850483T	TRIT1	NM_017646.6(TRIT1):c.561-222G>A	noncoding	Benign
1	39854050	G	A	G39854050A	TRIT1	NM_017646.6(TRIT1):c.334C>T:p.Arg112Ter	coding	Pathogenic
1	39883459	G	A	G39883459A	TRIT1	NM_017646.6(TRIT1):c.33C>T:p.Pro11=	coding	Benign
1	39883470	G	A	G39883470A	TRIT1	NM_017646.6(TRIT1):c.22C>T:p.Arg8Ter	coding	Pathogenic/Likely_pathogenic
1	39883661	G	A	G39883661A	TRIT1	Single_allele	noncoding	Benign
1	39883738	T	C	T39883738C	TRIT1	Single_allele	noncoding	Benign
1	39883756	G	A	G39883756A	TRIT1	Single_allele	noncoding	Benign
1	39955047	C	A	C39955047A	MFSD2A	Single_allele	noncoding	Benign
1	39955401	C	A	C39955401A	MFSD2A	NM_032793.5(MFSD2A):c.93+16C>A	noncoding	Benign
1	39965235	C	T	C39965235T	MFSD2A	NM_032793.5(MFSD2A):c.378C>T:p.Ala126=	coding	Benign
1	39965550	G	A	G39965550A	MFSD2A	NM_032793.5(MFSD2A):c.556+1G>A	coding	Pathogenic
1	39965590	C	A	C39965590A	MFSD2A	NM_032793.5(MFSD2A):c.556+41C>A	noncoding	Benign
1	39966034	A	G	A39966034G	MFSD2A	NM_032793.5(MFSD2A):c.714+20A>G	noncoding	Benign
1	39966055	A	G	A39966055G	MFSD2A	NM_032793.5(MFSD2A):c.714+41A>G	noncoding	Benign
1	39966796	C	T	C39966796T	MFSD2A	NM_032793.5(MFSD2A):c.806-15C>T	noncoding	Benign
1	39967277	G	T	G39967277T	MFSD2A	NM_032793.5(MFSD2A):c.1011+108G>T	noncoding	Benign
1	39968099	A	G	A39968099G	MFSD2A	NM_032793.5(MFSD2A):c.1208+183A>G	noncoding	Benign
1	39968535	T	C	T39968535C	MFSD2A	NM_032793.5(MFSD2A):c.1353-34T>C	noncoding	Benign
1	39969485	A	G	A39969485G	MFSD2A	NM_032793.5(MFSD2A):c.1530-20A>G	noncoding	Benign
1	39969508	C	T	C39969508T	MFSD2A	NM_032793.5(MFSD2A):c.1533C>T:p.Asp511=	coding	Benign/Likely_benign
1	40076823	T	C	T40076823C	PPT1	NM_000310.4(PPT1):c.798+19A>G	noncoding	Benign/Likely_benign
1	40076899	G	T	G40076899T	PPT1	NM_000310.4(PPT1):c.741C>A:p.Tyr247Ter	coding	Pathogenic
1	40076912	C	T	C40076912T	PPT1	NM_000310.4(PPT1):c.728G>A:p.Trp243Ter	coding	Pathogenic
1	40078573	G	A	G40078573A	PPT1	NM_000310.4(PPT1):c.713C>T:p.Pro238Leu	coding	Pathogenic/Likely_pathogenic
1	40080292	T	G	T40080292G	PPT1	NM_000310.4(PPT1):c.627+105A>C	noncoding	Benign
1	40080381	C	T	C40080381T	PPT1	NM_000310.4(PPT1):c.627+16G>A	noncoding	Benign
1	40080537	C	T	C40080537T	PPT1	NM_000310.4(PPT1):c.537-50G>A	noncoding	Benign
1	40089370	C	T	C40089370T	PPT1	NM_000310.4(PPT1):c.536+40G>A	noncoding	Benign
1	40089385	A	G	A40089385G	PPT1	NM_000310.4(PPT1):c.536+25T>C	noncoding	Benign
1	40091250	T	C	T40091250C	PPT1	NM_000310.4(PPT1):c.433+79A>G	noncoding	Benign
1	40091328	C	T	C40091328T	PPT1	NM_000310.4(PPT1):c.433+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	40091904	A	C	A40091904C	PPT1	NM_000310.4(PPT1):c.362+141T>G	noncoding	Benign
1	40092584	C	G	C40092584G	PPT1	NM_000310.4(PPT1):c.125-77G>C	noncoding	Benign
1	40096779	G	A	G40096779A	PPT1	NM_000310.4(PPT1):c.124+336C>T	noncoding	Benign
1	40097156	T	C	T40097156C	PPT1	NM_000310.4(PPT1):c.83A>G:p.Asp28Gly	coding	Benign
1	40097188	C	T	C40097188T	PPT1	NM_000310.4(PPT1):c.51G>A:p.Trp17Ter	coding	Pathogenic
1	40097614	T	A	T40097614A	PPT1	Single_allele	noncoding	Benign
1	40257946	G	A	G40257946A	ZMPSTE24	NM_005857.3(ZMPSTE24):c.-326G>A	noncoding	Benign
1	40257972	C	T	C40257972T	ZMPSTE24	Single_allele	noncoding	Benign
1	40267986	A	G	A40267986G	ZMPSTE24	NM_005857.5(ZMPSTE24):c.357+114A>G	noncoding	Benign
1	40269800	A	G	A40269800G	ZMPSTE24	NM_005857.5(ZMPSTE24):c.475-175A>G	noncoding	Benign
1	40270033	T	A	T40270033A	ZMPSTE24	NM_005857.5(ZMPSTE24):c.533T>A:p.Leu178Ter	coding	Pathogenic
1	40270128	G	C	G40270128C	ZMPSTE24	NM_005857.5(ZMPSTE24):c.627+1G>C	coding	Pathogenic
1	40270423	T	C	T40270423C	ZMPSTE24	NM_005857.5(ZMPSTE24):c.627+296T>C	noncoding	Benign
1	40271975	G	T	G40271975T	ZMPSTE24	NM_005857.5(ZMPSTE24):c.709G>T:p.Glu237Ter	coding	Pathogenic
1	40281367	A	G	A40281367G	ZMPSTE24	NM_005857.5(ZMPSTE24):c.794A>G:p.Asn265Ser	coding	Pathogenic
1	40285989	G	A	G40285989A	ZMPSTE24	NM_005857.5(ZMPSTE24):c.1019G>A:p.Trp340Ter	coding	Pathogenic
1	40286047	A	G	A40286047G	ZMPSTE24	NM_005857.5(ZMPSTE24):c.1059+18A>G	noncoding	Benign
1	40290879	T	A	T40290879A	ZMPSTE24	NM_005857.5(ZMPSTE24):c.1085T>A:p.Leu362Ter	coding	Pathogenic
1	40290899	C	T	C40290899T	ZMPSTE24	NM_005857.5(ZMPSTE24):c.1105C>T:p.Arg369Ter	coding	Pathogenic
1	40291221	C	T	C40291221T	ZMPSTE24	NM_005857.5(ZMPSTE24):c.1203+224C>T	noncoding	Benign
1	40292321	T	C	T40292321C	ZMPSTE24	NM_005857.5(ZMPSTE24):c.1204-124T>C	noncoding	Benign
1	40301369	C	T	C40301369T	COL9A2	NM_001852.4(COL9A2):c.1883G>A:p.Arg628Gln	coding	Benign
1	40301720	G	A	G40301720A	COL9A2	NM_001852.4(COL9A2):c.1870+92C>T	noncoding	Benign
1	40301754	A	G	A40301754G	COL9A2	NM_001852.4(COL9A2):c.1870+58T>C	noncoding	Benign
1	40302760	C	T	C40302760T	COL9A2	NM_001852.4(COL9A2):c.1653G>A:p.Ala551=	coding	Benign
1	40303055	C	T	C40303055T	COL9A2	NM_001852.4(COL9A2):c.1603+76G>A	noncoding	Benign
1	40303737	G	T	G40303737T	COL9A2	NM_001852.4(COL9A2):c.1402-61C>A	noncoding	Benign
1	40304046	A	C	A40304046C	COL9A2	NM_001852.4(COL9A2):c.1323+18T>G	noncoding	Benign/Likely_benign
1	40304238	C	T	C40304238T	COL9A2	NM_001852.4(COL9A2):c.1287+82G>A	noncoding	Benign
1	40305076	T	C	T40305076C	COL9A2	NM_001852.4(COL9A2):c.1108-229A>G	noncoding	Benign
1	40305875	C	A	C40305875A	COL9A2	NM_001852.4(COL9A2):c.1054-107G>T	noncoding	Benign
1	40305900	A	G	A40305900G	COL9A2	NM_001852.4(COL9A2):c.1054-132T>C	noncoding	Benign
1	40306301	C	G	C40306301G	COL9A2	NM_001852.4(COL9A2):c.1009-114G>C	noncoding	Benign
1	40307617	C	T	C40307617T	COL9A2	NM_001852.4(COL9A2):c.954+86G>A	noncoding	Benign
1	40307842	G	T	G40307842T	COL9A2	NM_001852.4(COL9A2):c.901-86C>A	noncoding	Benign
1	40308557	A	G	A40308557G	COL9A2	NM_001852.4(COL9A2):c.847-312T>C	noncoding	Benign
1	40310568	T	C	T40310568C	COL9A2	NM_001852.4(COL9A2):c.684+146A>G	noncoding	Benign
1	40310841	C	T	C40310841T	COL9A2	NM_001852.4(COL9A2):c.631-74G>A	noncoding	Benign
1	40312125	G	A	G40312125A	COL9A2	NM_001852.4(COL9A2):c.364-13C>T	noncoding	Benign/Likely_benign
1	40312170	A	G	A40312170G	COL9A2	NM_001852.4(COL9A2):c.364-58T>C	noncoding	Benign
1	40312436	C	T	C40312436T	COL9A2	NM_001852.4(COL9A2):c.363+20G>A	noncoding	Benign/Likely_benign
1	40312895	C	T	C40312895T	COL9A2	NM_001852.4(COL9A2):c.250-111G>A	noncoding	Benign
1	40314186	C	T	C40314186T	COL9A2	NM_001852.4(COL9A2):c.249+19G>A	noncoding	Benign/Likely_benign
1	40314352	C	G	C40314352G	COL9A2	NM_001852.4(COL9A2):c.186G>C:p.Pro62=	coding	Pathogenic
1	40314352	C	T	C40314352T	COL9A2	NM_001852.4(COL9A2):c.186G>A:p.Pro62=	coding	Pathogenic/Likely_pathogenic
1	40315366	G	A	G40315366A	COL9A2	NM_001852.4(COL9A2):c.150+224C>T	noncoding	Benign
1	40514272	T	A	T40514272A	EXO5	NM_001346953.2(EXO5):c.-30-243T>A	noncoding	Benign
1	40514273	C	A	C40514273A	EXO5	NM_001346953.2(EXO5):c.-30-242C>A	noncoding	Benign
1	40514887	G	A	G40514887A	EXO5	NM_001346953.2(EXO5):c.343G>A:p.Asp115Asn	coding	Benign
1	40514996	T	C	T40514996C	EXO5	NM_001346953.2(EXO5):c.452T>C:p.Leu151Pro	coding	Benign
1	40515043	C	T	C40515043T	EXO5	NM_001346953.2(EXO5):c.499C>T:p.Pro167Ser	coding	Benign
1	40515059	G	T	G40515059T	EXO5	NM_001346953.2(EXO5):c.515G>T:p.Gly172Val	coding	Benign
1	40515558	G	A	G40515558A	EXO5	NM_001346953.2(EXO5):c.1014G>A:p.Glu338=	coding	Benign
1	40515579	G	A	G40515579A	EXO5	NM_001346953.2(EXO5):c.1035G>A:p.Thr345=	coding	Benign
1	40515642	G	A	G40515642A	EXO5	NM_001346953.2(EXO5):c.1098G>A:p.Ala366=	coding	Benign
1	40635900	A	G	A40635900G	RIMS3	NM_014747.3(RIMS3):c.359+16T>C	noncoding	Benign
1	40818447	C	G	C40818447G	KCNQ4	NM_004700.4(KCNQ4):c.533-58C>G	noncoding	Benign
1	40818673	A	T	A40818673T	KCNQ4	NM_004700.4(KCNQ4):c.701A>T:p.His234Leu	coding	Pathogenic
1	40818734	A	G	A40818734G	KCNQ4	NM_004700.4(KCNQ4):c.708+54A>G	noncoding	Benign
1	40818801	C	T	C40818801T	KCNQ4	NM_004700.4(KCNQ4):c.708+121C>T	noncoding	Benign
1	40818837	C	G	C40818837G	KCNQ4	NM_004700.4(KCNQ4):c.708+157C>G	noncoding	Benign
1	40818848	A	G	A40818848G	KCNQ4	NM_004700.4(KCNQ4):c.708+168A>G	noncoding	Benign
1	40818855	T	G	T40818855G	KCNQ4	NM_004700.4(KCNQ4):c.708+175T>G	noncoding	Benign
1	40819138	G	C	G40819138C	KCNQ4	NM_004700.4(KCNQ4):c.709-209G>C	noncoding	Benign
1	40819162	A	T	A40819162T	KCNQ4	NM_004700.4(KCNQ4):c.709-185A>T	noncoding	Benign
1	40819192	G	A	G40819192A	KCNQ4	NM_004700.4(KCNQ4):c.709-155G>A	noncoding	Benign
1	40819363	G	A	G40819363A	KCNQ4	NM_004700.4(KCNQ4):c.725G>A:p.Trp242Ter	coding	Pathogenic
1	40819620	C	A	C40819620A	KCNQ4	NM_004700.4(KCNQ4):c.834+148C>A	noncoding	Benign
1	40819623	A	G	A40819623G	KCNQ4	NM_004700.4(KCNQ4):c.834+151A>G	noncoding	Benign
1	40820274	G	A	G40820274A	KCNQ4	NM_004700.4(KCNQ4):c.1041+14G>A	noncoding	Benign
1	40822397	C	G	C40822397G	KCNQ4	NM_004700.4(KCNQ4):c.1125C>G:p.Ser375=	coding	Benign
1	40822430	T	G	T40822430G	KCNQ4	NM_004700.4(KCNQ4):c.1130+28T>G	noncoding	Benign
1	40822433	G	C	G40822433C	KCNQ4	NM_004700.4(KCNQ4):c.1130+31G>C	noncoding	Benign
1	40823907	C	T	C40823907T	KCNQ4	NM_004700.4(KCNQ4):c.1131-190C>T	noncoding	Benign
1	40824270	G	A	G40824270A	KCNQ4	NM_004700.4(KCNQ4):c.1292+12G>A	noncoding	Benign/Likely_benign
1	40824321	T	C	T40824321C	KCNQ4	NM_004700.4(KCNQ4):c.1292+63T>C	noncoding	Benign
1	40824563	C	T	C40824563T	KCNQ4	NM_004700.4(KCNQ4):c.1292+305C>T	noncoding	Benign
1	40832838	G	A	G40832838A	KCNQ4	NM_004700.4(KCNQ4):c.1514-176G>A	noncoding	Benign
1	40832980	T	C	T40832980C	KCNQ4	NM_004700.4(KCNQ4):c.1514-34T>C	noncoding	Benign
1	40834750	C	T	C40834750T	KCNQ4	NM_004700.4(KCNQ4):c.1614-217C>T	noncoding	Benign
1	40834754	C	T	C40834754T	KCNQ4	NM_004700.4(KCNQ4):c.1614-213C>T	noncoding	Benign
1	40834864	G	A	G40834864A	KCNQ4	NM_004700.4(KCNQ4):c.1614-103G>A	noncoding	Benign
1	40835280	C	A	C40835280A	KCNQ4	NM_004700.4(KCNQ4):c.1745+182C>A	noncoding	Benign
1	40835347	T	C	T40835347C	KCNQ4	NM_004700.4(KCNQ4):c.1745+249T>C	noncoding	Benign
1	40835354	G	C	G40835354C	KCNQ4	NM_004700.4(KCNQ4):c.1745+256G>C	noncoding	Benign
1	40835362	G	C	G40835362C	KCNQ4	NM_004700.4(KCNQ4):c.1745+264G>C	noncoding	Benign
1	40838634	A	G	A40838634G	KCNQ4	NM_004700.4(KCNQ4):c.*111A>G	noncoding	Benign
1	40991149	T	G	T40991149G	CTPS1	NM_001905.4(CTPS1):c.556-16T>G	noncoding	Benign
1	40997445	G	A	G40997445A	CTPS1	NM_001905.4(CTPS1):c.924G>A:p.Thr308=	coding	Benign
1	41008728	C	G	C41008728G	CTPS1	NM_001905.4(CTPS1):c.1449+14C>G	coding	Benign
1	41009413	A	G	A41009413G	CTPS1	NM_001905.4(CTPS1):c.1547-32A>G	noncoding	Benign
1	41579798	G	A	G41579798A	HIVEP3	NM_024503.5(HIVEP3):c.5000C>T:p.Ala1667Val	coding	Benign
1	42455953	G	A	G42455953A	ZMYND12	NM_032257.5(ZMYND12):c.45C>T:p.Leu15=	coding	Benign
1	42456601	G	A	G42456601A	PPCS	NM_024664.4(PPCS):c.36G>A:p.Gln12_Pro13=	coding	Benign
1	42456874	C	A	C42456874A	PPCS	NM_024664.4(PPCS):c.309C>A:p.Ser103_Ala104=	coding	Benign
1	42457057	G	A	G42457057A	PPCS	NM_024664.4(PPCS):c.492G>A:p.Gln164_Ala165=	coding	Benign
1	42457257	G	A	G42457257A	PPCS	NM_024664.4(PPCS):c.519G>A:p.Ala173_Met174=	coding	Benign
1	42457275	G	A	G42457275A	PPCS	NM_024664.4(PPCS):c.537G>A:p.Ala179_Ala180=	coding	Benign
1	42457362	T	G	T42457362G	PPCS	NM_024664.4(PPCS):c.612+12T>G	coding	Benign
1	42459409	T	C	T42459409C	PPCS	NM_024664.4(PPCS):c.613-194T>C	noncoding	Benign
1	42459752	G	C	G42459752C	PPCS	NM_024664.4(PPCS):c.762G>C:p.Val254_Val255=	coding	Benign
1	42459830	A	G	A42459830G	PPCS	NM_024664.4(PPCS):c.840A>G:p.Leu280_Ser281=	coding	Benign
1	42460017	T	G	T42460017G	PPCS	NM_024664.4(PPCS):c.*91T>G	coding	Benign
1	42473350	C	G	C42473350G	PPCS	NM_001395517.1(CCDC30):c.-91-7111C>G	noncoding	Benign
1	42735184	G	A	G42735184A	CLDN19	NM_148960.3(CLDN19):c.627-50C>T	coding	Benign
1	42735545	A	C	A42735545C	CLDN19	NM_148960.3(CLDN19):c.626+333T>G	coding	Benign
1	42736031	C	G	C42736031G	CLDN19	NM_148960.3(CLDN19):c.474-1G>C	coding	Pathogenic
1	42740586	G	T	G42740586T	CLDN19	Single_allele	noncoding	Benign
1	42746765	G	A	G42746765A	P3H1	NM_022356.4(P3H1):c.2143C>T:p.Gln715Ter	coding	Pathogenic
1	42747009	G	A	G42747009A	P3H1	NM_022356.4(P3H1):c.2056-157C>T	coding	Benign
1	42747254	C	T	C42747254T	P3H1	NM_022356.4(P3H1):c.2055+18G>A	coding	Pathogenic
1	42747800	T	G	T42747800G	P3H1	NM_022356.4(P3H1):c.1839-2A>C	noncoding	Pathogenic/Likely_pathogenic
1	42748018	C	T	C42748018T	P3H1	NM_022356.4(P3H1):c.1838+182G>A	noncoding	Benign
1	42748134	G	T	G42748134T	P3H1	NM_022356.4(P3H1):c.1838+66C>A	noncoding	Benign
1	42749887	T	C	T42749887C	P3H1	NM_022356.4(P3H1):c.1720+299A>G	noncoding	Benign
1	42750134	G	A	G42750134A	P3H1	NM_022356.4(P3H1):c.1720+52C>T	noncoding	Benign
1	42752231	C	T	C42752231T	P3H1	NM_022356.4(P3H1):c.1569+43G>A	noncoding	Benign
1	42752948	C	T	C42752948T	P3H1	NM_022356.4(P3H1):c.1346-284G>A	noncoding	Benign
1	42755163	A	G	A42755163G	P3H1	NM_022356.4(P3H1):c.1223+2T>C	noncoding	Pathogenic
1	42755516	C	T	C42755516T	P3H1	NM_022356.4(P3H1):c.1170+32G>A	noncoding	Benign
1	42757636	C	T	C42757636T	P3H1	NM_022356.4(P3H1):c.1080+147G>A	noncoding	Benign
1	42758859	G	C	G42758859C	P3H1	NM_022356.4(P3H1):c.933C>G:p.Tyr311Ter	coding	Pathogenic
1	42758954	G	A	G42758954A	P3H1	NM_022356.4(P3H1):c.838C>T:p.Gln280Ter	coding	Pathogenic
1	42759244	G	T	G42759244T	P3H1	NM_022356.4(P3H1):c.765C>A:p.Tyr255Ter	coding	Pathogenic
1	42759345	G	A	G42759345A	P3H1	NM_022356.4(P3H1):c.664C>T:p.Gln222Ter	coding	Pathogenic
1	42759357	C	A	C42759357A	P3H1	NM_022356.4(P3H1):c.652G>T:p.Glu218Ter	coding	Pathogenic
1	42766405	C	T	C42766405T	P3H1	NM_022356.4(P3H1):c.465+102G>A	noncoding	Benign
1	42767127	G	T	G42767127T	P3H1	Single_allele	noncoding	Benign
1	42767206	A	T	A42767206T	P3H1	Single_allele	noncoding	Benign
1	42927238	G	A	G42927238A	SLC2A1	NM_006516.4(SLC2A1):c.1282C>T:p.Leu428=	coding	Benign/Likely_benign
1	42927617	G	T	G42927617T	SLC2A1	NM_006516.4(SLC2A1):c.1266C>A:p.Phe422Leu	coding	Pathogenic
1	42927689	A	G	A42927689G	SLC2A1	NM_006516.4(SLC2A1):c.1194T>C:p.Gly398=	coding	Benign
1	42927808	C	A	C42927808A	SLC2A1	NM_006516.4(SLC2A1):c.1075G>T:p.Glu359Ter	coding	Pathogenic
1	42928025	C	T	C42928025T	SLC2A1	NM_006516.4(SLC2A1):c.1075-217G>A	noncoding	Benign
1	42928701	G	C	G42928701C	SLC2A1	NM_006516.4(SLC2A1):c.1074+231C>G	noncoding	Benign
1	42928800	A	G	A42928800G	SLC2A1	NM_006516.4(SLC2A1):c.1074+132T>C	noncoding	Benign
1	42928814	C	G	C42928814G	SLC2A1	NM_006516.4(SLC2A1):c.1074+118G>C	noncoding	Benign
1	42929185	G	T	G42929185T	SLC2A1	NM_006516.4(SLC2A1):c.972+25C>A	noncoding	Benign
1	42929209	C	G	C42929209G	SLC2A1	NM_006516.4(SLC2A1):c.972+1G>C	noncoding	Pathogenic
1	42929210	C	T	C42929210T	SLC2A1	NM_006516.4(SLC2A1):c.972G>A:p.Ser324=	coding	Pathogenic/Likely_pathogenic
1	42929284	T	A	T42929284A	SLC2A1	NM_006516.4(SLC2A1):c.898A>T:p.Lys300Ter	coding	Pathogenic
1	42929316	T	C	T42929316C	SLC2A1	NM_006516.4(SLC2A1):c.868-2A>G	noncoding	Pathogenic
1	42929422	A	C	A42929422C	SLC2A1	NM_006516.4(SLC2A1):c.868-108T>G	noncoding	Benign
1	42929627	A	G	A42929627G	SLC2A1	NM_006516.4(SLC2A1):c.833T>C:p.Leu278Pro	coding	Pathogenic
1	42929721	C	A	C42929721A	SLC2A1	NM_006516.4(SLC2A1):c.739G>T:p.Glu247Ter	coding	Pathogenic
1	42929954	G	A	G42929954A	SLC2A1	NM_006516.4(SLC2A1):c.598C>T:p.Gln200Ter	coding	Pathogenic/Likely_pathogenic
1	42929994	C	T	C42929994T	SLC2A1	NM_006516.4(SLC2A1):c.558G>A:p.Trp186Ter	coding	Pathogenic
1	42930028	C	A	C42930028A	SLC2A1	NM_006516.4(SLC2A1):c.524G>T:p.Gly175Val	coding	Pathogenic
1	42930685	G	A	G42930685A	SLC2A1	NM_006516.4(SLC2A1):c.457C>T:p.Arg153Cys	coding	Pathogenic
1	42930706	C	T	C42930706T	SLC2A1	NM_006516.4(SLC2A1):c.436G>A:p.Glu146Lys	coding	Pathogenic
1	42930743	G	T	G42930743T	SLC2A1	NM_006516.4(SLC2A1):c.399C>A:p.Cys133Ter	coding	Pathogenic
1	42930830	G	C	G42930830C	SLC2A1	NM_006516.4(SLC2A1):c.312C>G:p.Phe104Leu	coding	Benign/Likely_benign
1	42930867	C	T	C42930867T	SLC2A1	NM_006516.4(SLC2A1):c.276-1G>A	coding	Pathogenic
1	42930916	G	A	G42930916A	SLC2A1	NM_006516.4(SLC2A1):c.276-50C>T	noncoding	Benign
1	42931029	G	A	G42931029A	SLC2A1	NM_006516.4(SLC2A1):c.275+17C>T	noncoding	Benign/Likely_benign
1	42931045	C	G	C42931045G	SLC2A1	NM_006516.4(SLC2A1):c.275+1G>C	noncoding	Pathogenic
1	42931183	C	G	C42931183G	SLC2A1	NM_006516.4(SLC2A1):c.138G>C:p.Gln46His	coding	Benign
1	42931185	G	A	G42931185A	SLC2A1	NM_006516.4(SLC2A1):c.136C>T:p.Gln46Ter	coding	Pathogenic
1	42931197	C	A	C42931197A	SLC2A1	NM_006516.4(SLC2A1):c.124G>T:p.Glu42Ter	coding	Pathogenic
1	42931208	T	C	T42931208C	SLC2A1	NM_006516.4(SLC2A1):c.115-2A>G	noncoding	Pathogenic
1	42931208	T	G	T42931208G	SLC2A1	NM_006516.4(SLC2A1):c.115-2A>C	noncoding	Pathogenic
1	42943240	T	C	T42943240C	SLC2A1	NM_006516.4(SLC2A1):c.100A>G:p.Asn34Asp	coding	Pathogenic/Likely_pathogenic
1	42943528	A	G	A42943528G	SLC2A1	NM_006516.4(SLC2A1):c.19-207T>C	noncoding	Benign
1	42943693	T	C	T42943693C	SLC2A1	NM_006516.4(SLC2A1):c.19-372A>G	noncoding	Benign
1	42943749	C	T	C42943749T	SLC2A1	NM_006516.4(SLC2A1):c.19-428G>A	noncoding	Benign
1	42958651	T	C	T42958651C	SLC2A1	NM_006516.4(SLC2A1):c.1A>G:p.Met1Val	coding	Pathogenic
1	42959411	G	T	G42959411T	SLC2A1	NM_006516.2(SLC2A1):c.-760C>A	noncoding	Benign
1	43311778	C	T	C43311778T	TIE1	NM_005424.5(TIE1):c.1441C>T:p.Arg481Cys	coding	Pathogenic
1	43321696	G	A	G43321696A	TIE1	NM_005424.5(TIE1):c.3326G>A:p.Arg1109His	coding	Pathogenic
1	43337551	G	A	G43337551A	MPL	Single_allele	noncoding	Benign
1	43338208	C	A	C43338208A	MPL	NM_005373.3(MPL):c.189C>A:p.Tyr63Ter	coding	Pathogenic/Likely_pathogenic
1	43338208	C	G	C43338208G	MPL	NM_005373.3(MPL):c.189C>G:p.Tyr63Ter	coding	Pathogenic
1	43338209	C	T	C43338209T	MPL	NM_005373.3(MPL):c.190C>T:p.Gln64Ter	coding	Pathogenic
1	43338543	G	T	G43338543T	MPL	NM_005373.3(MPL):c.214G>T:p.Glu72Ter	coding	Pathogenic/Likely_pathogenic
1	43338602	C	A	C43338602A	MPL	NM_005373.3(MPL):c.273C>A:p.Tyr91Ter	coding	Pathogenic
1	43338696	C	T	C43338696T	MPL	NM_005373.3(MPL):c.367C>T:p.Arg123Ter	coding	Pathogenic/Likely_pathogenic
1	43338767	C	T	C43338767T	MPL	NM_005373.3(MPL):c.391+47C>T	noncoding	Benign/Likely_benign
1	43338997	G	T	G43338997T	MPL	NM_005373.3(MPL):c.392-274G>T	noncoding	Benign
1	43339357	G	T	G43339357T	MPL	NM_005373.3(MPL):c.478G>T:p.Glu160Ter	coding	Pathogenic
1	43339786	C	T	C43339786T	MPL	NM_005373.3(MPL):c.691-178C>T	noncoding	Benign
1	43346506	C	T	C43346506T	MPL	NM_005373.3(MPL):c.1042C>T:p.Gln348Ter	coding	Pathogenic
1	43346845	G	T	G43346845T	MPL	NM_005373.3(MPL):c.1219G>T:p.Glu407Ter	coding	Pathogenic
1	43346874	G	A	G43346874A	MPL	NM_005373.3(MPL):c.1248G>A:p.Trp416Ter	coding	Pathogenic
1	43346902	C	T	C43346902T	MPL	NM_005373.3(MPL):c.1276C>T:p.Arg426Ter	coding	Pathogenic
1	43348782	T	C	T43348782C	MPL	NM_005373.3(MPL):c.1309-61T>C	noncoding	Benign
1	43348815	C	G	C43348815G	MPL	NM_005373.3(MPL):c.1309-28C>G	noncoding	Benign
1	43348912	C	T	C43348912T	MPL	NM_005373.3(MPL):c.1378C>T:p.Gln460Ter	coding	Pathogenic
1	43348965	G	A	G43348965A	MPL	NM_005373.3(MPL):c.1431G>A:p.Trp477Ter	coding	Pathogenic
1	43349003	G	C	G43349003C	MPL	NM_005373.3(MPL):c.1468+1G>C	coding	Pathogenic
1	43349193	T	C	T43349193C	MPL	NM_005373.3(MPL):c.1469-70T>C	noncoding	Benign
1	43349340	C	T	C43349340T	MPL	NM_005373.3(MPL):c.1546C>T:p.Gln516Ter	coding	Pathogenic
1	43349357	C	A	C43349357A	MPL	NM_005373.3(MPL):c.1563C>A:p.Tyr521Ter	coding	Pathogenic
1	43352271	C	T	C43352271T	MPL	NM_005373.3(MPL):c.1621C>T:p.Gln541Ter	coding	Pathogenic
1	43352534	C	A	C43352534A	MPL	NM_005373.3(MPL):c.1670C>A:p.Ser557Ter	coding	Pathogenic
1	43354522	G	A	G43354522A	MPL	Single_allele	noncoding	Benign
1	43364649	T	C	T43364649C	ELOVL1	NM_022821.4(ELOVL1):c.376-2A>G	coding	Pathogenic
1	43365318	G	A	G43365318A	ELOVL1	NM_022821.4(ELOVL1):c.105C>T:p.Leu35=	coding	Benign
1	43389819	C	T	C43389819T	SZT2	Single_allele	noncoding	Benign
1	43389875	A	G	A43389875G	SZT2	Single_allele	noncoding	Benign
1	43389907	G	C	G43389907C	SZT2	NM_001365999.1(SZT2):c.-62G>C	noncoding	Benign
1	43390239	C	T	C43390239T	SZT2	NM_001365999.1(SZT2):c.27+244C>T	noncoding	Benign
1	43402839	C	T	C43402839T	SZT2	NM_001365999.1(SZT2):c.28-338C>T	noncoding	Benign
1	43403231	C	T	C43403231T	SZT2	NM_001365999.1(SZT2):c.82C>T:p.Arg28Ter	coding	Pathogenic
1	43403564	G	C	G43403564C	SZT2	NM_001365999.1(SZT2):c.154-37G>C	noncoding	Benign
1	43404461	C	T	C43404461T	SZT2	NM_001365999.1(SZT2):c.409C>T:p.Arg137Ter	coding	Pathogenic
1	43416004	G	A	G43416004A	SZT2	NM_001365999.1(SZT2):c.675G>A:p.Lys225=	coding	Benign/Likely_benign
1	43416328	G	A	G43416328A	SZT2	NM_001365999.1(SZT2):c.773-207G>A	noncoding	Benign
1	43419940	C	G	C43419940G	SZT2	NM_001365999.1(SZT2):c.1086C>G:p.Tyr362Ter	coding	Pathogenic
1	43420650	A	G	A43420650G	SZT2	NM_001365999.1(SZT2):c.1262-99A>G	noncoding	Benign
1	43420735	C	T	C43420735T	SZT2	NM_001365999.1(SZT2):c.1262-14C>T	noncoding	Benign/Likely_benign
1	43421475	G	A	G43421475A	SZT2	NM_001365999.1(SZT2):c.1626+172G>A	noncoding	Benign
1	43422670	A	C	A43422670C	SZT2	NM_001365999.1(SZT2):c.1922+38A>C	noncoding	Benign
1	43422678	G	C	G43422678C	SZT2	NM_001365999.1(SZT2):c.1922+46G>C	noncoding	Benign
1	43422931	G	A	G43422931A	SZT2	NM_001365999.1(SZT2):c.2037+48G>A	noncoding	Benign
1	43423053	C	T	C43423053T	SZT2	NM_001365999.1(SZT2):c.2038-46C>T	noncoding	Benign
1	43425261	C	A	C43425261A	SZT2	NM_001365999.1(SZT2):c.2645+54C>A	noncoding	Benign
1	43425950	G	A	G43425950A	SZT2	NM_001365999.1(SZT2):c.2929+1G>A	coding	Pathogenic
1	43426518	G	A	G43426518A	SZT2	NM_001365999.1(SZT2):c.3194G>A:p.Arg1065Gln	noncoding	Benign
1	43427571	C	T	C43427571T	SZT2	NM_001365999.1(SZT2):c.3640C>T:p.Arg1214Ter	coding	Pathogenic
1	43428461	C	T	C43428461T	SZT2	NM_001365999.1(SZT2):c.4141C>T:p.Arg1381Ter	coding	Pathogenic
1	43429947	G	A	G43429947A	SZT2	NM_001365999.1(SZT2):c.4309-64G>A	noncoding	Benign
1	43430006	A	C	A43430006C	SZT2	NM_001365999.1(SZT2):c.4309-5A>C	noncoding	Benign
1	43430757	C	G	C43430757G	SZT2	NM_001365999.1(SZT2):c.4742C>G:p.Ser1581Ter	coding	Pathogenic
1	43430990	C	T	C43430990T	SZT2	NM_001365999.1(SZT2):c.4816C>T:p.Arg1606Ter	coding	Pathogenic
1	43431443	A	G	A43431443G	SZT2	NM_001365999.1(SZT2):c.5025-17A>G	noncoding	Benign/Likely_benign
1	43432258	C	T	C43432258T	SZT2	NM_001365999.1(SZT2):c.5275-14C>T	noncoding	Benign
1	43432455	G	A	G43432455A	SZT2	NM_001365999.1(SZT2):c.5442+16G>A	noncoding	Benign
1	43432974	A	G	A43432974G	SZT2	NM_001365999.1(SZT2):c.5603-15A>G	noncoding	Benign
1	43433397	G	A	G43433397A	SZT2	NM_001365999.1(SZT2):c.5804+207G>A	noncoding	Benign
1	43435187	C	G	C43435187G	SZT2	NM_001365999.1(SZT2):c.5905-13C>G	noncoding	Benign/Likely_benign
1	43437262	G	A	G43437262A	SZT2	NM_001365999.1(SZT2):c.6126G>A:p.Trp2042Ter	coding	Pathogenic
1	43437275	C	T	C43437275T	SZT2	NM_001365999.1(SZT2):c.6139C>T:p.Arg2047Ter	coding	Pathogenic
1	43437665	C	T	C43437665T	SZT2	NM_001365999.1(SZT2):c.6361C>T:p.Arg2121Ter	coding	Pathogenic
1	43438645	A	G	A43438645G	SZT2	NM_001365999.1(SZT2):c.6509-54A>G	noncoding	Benign
1	43439108	A	C	A43439108C	SZT2	NM_001365999.1(SZT2):c.6792+15A>C	noncoding	Benign
1	43439278	A	T	A43439278T	SZT2	NM_001365999.1(SZT2):c.6793-80A>T	noncoding	Benign
1	43439918	G	A	G43439918A	SZT2	NM_001365999.1(SZT2):c.7080G>A:p.Trp2360Ter	coding	Pathogenic
1	43439961	C	T	C43439961T	SZT2	NM_001365999.1(SZT2):c.7123C>T:p.Arg2375Ter	coding	Pathogenic
1	43440023	A	G	A43440023G	SZT2	NM_001365999.1(SZT2):c.7185A>G:p.Ser2395=	coding	Benign
1	43440148	T	C	T43440148C	SZT2	NM_001365999.1(SZT2):c.7210+100T>C	noncoding	Benign
1	43441421	G	A	G43441421A	SZT2	NM_001365999.1(SZT2):c.7511+41G>A	noncoding	Benign
1	43441811	C	T	C43441811T	SZT2	NM_001365999.1(SZT2):c.7735C>T:p.Gln2579Ter	coding	Pathogenic
1	43442252	C	G	C43442252G	SZT2	NM_001365999.1(SZT2):c.7874-16C>G	noncoding	Benign/Likely_benign
1	43442463	T	G	T43442463G	SZT2	NM_001365999.1(SZT2):c.7996T>G:p.Trp2666Gly	coding	Pathogenic
1	43442629	C	T	C43442629T	SZT2	NM_001365999.1(SZT2):c.8151+11C>T	noncoding	Benign
1	43443000	C	G	C43443000G	SZT2	NM_001365999.1(SZT2):c.8333C>G:p.Ser2778Cys	coding	Pathogenic
1	43443116	A	G	A43443116G	SZT2	NM_001365999.1(SZT2):c.8419+30A>G	noncoding	Benign
1	43445937	C	T	C43445937T	SZT2	NM_001365999.1(SZT2):c.8869C>T:p.Arg2957Ter	coding	Pathogenic
1	43446919	A	G	A43446919G	SZT2	NM_001365999.1(SZT2):c.9073-36A>G	noncoding	Benign
1	43447497	G	A	G43447497A	SZT2	NM_001365999.1(SZT2):c.9287-48G>A	noncoding	Benign
1	43447524	C	T	C43447524T	SZT2	NM_001365999.1(SZT2):c.9287-21C>T	noncoding	Benign
1	43448290	C	T	C43448290T	SZT2	NM_001365999.1(SZT2):c.9775C>T:p.Arg3259Ter	coding	Pathogenic/Likely_pathogenic
1	43450722	G	A	G43450722A	SZT2	NM_001365999.1(SZT2):c.*242G>A	noncoding	Benign
1	43453627	C	T	C43453627T	SZT2	NM_001365999.1(SZT2):c.*3147C>T	coding	Benign
1	43592594	C	A	C43592594A	PTPRF	NM_002840.5(PTPRF):c.1806C>A:p.Ala602=	coding	Benign
1	43792150	G	A	G43792150A	ST3GAL3	NM_006279.5(ST3GAL3):c.166+1G>A	coding	Pathogenic/Likely_pathogenic
1	43792369	A	G	A43792369G	ST3GAL3	NM_006279.5(ST3GAL3):c.166+220A>G	noncoding	Benign
1	43814709	A	T	A43814709T	ST3GAL3	NM_006279.5(ST3GAL3):c.167-182A>T	noncoding	Benign
1	43814753	T	G	T43814753G	ST3GAL3	NM_006279.5(ST3GAL3):c.167-138T>G	noncoding	Benign
1	43838071	C	T	C43838071T	ST3GAL3	NM_006279.5(ST3GAL3):c.210-148C>T	noncoding	Benign
1	43894649	T	G	T43894649G	ST3GAL3	NM_006279.5(ST3GAL3):c.397+172T>G	noncoding	Benign
1	43897951	C	G	C43897951G	ST3GAL3	NM_006279.5(ST3GAL3):c.398-284C>G	noncoding	Benign
1	43898038	T	C	T43898038C	ST3GAL3	NM_006279.5(ST3GAL3):c.398-197T>C	noncoding	Benign
1	43899235	C	T	C43899235T	ST3GAL3	NM_006279.5(ST3GAL3):c.529C>T:p.Arg177Ter	coding	Pathogenic
1	43899643	C	A	C43899643A	ST3GAL3	NM_006279.5(ST3GAL3):c.660C>A:p.Tyr220Ter	coding	Pathogenic
1	43899782	C	G	C43899782G	ST3GAL3	NM_006279.5(ST3GAL3):c.744+55C>G	noncoding	Benign
1	43899785	A	G	A43899785G	ST3GAL3	NM_006279.5(ST3GAL3):c.744+58A>G	noncoding	Benign
1	43899857	G	A	G43899857A	ST3GAL3	NM_006279.5(ST3GAL3):c.744+130G>A	noncoding	Benign
1	43920100	C	T	C43920100T	ST3GAL3	NM_006279.5(ST3GAL3):c.745-304C>T	noncoding	Benign
1	43920384	C	T	C43920384T	ST3GAL3	NM_006279.5(ST3GAL3):c.745-20C>T	noncoding	Benign
1	43920391	G	A	G43920391A	ST3GAL3	NM_006279.5(ST3GAL3):c.745-13G>A	noncoding	Benign
1	43920440	C	T	C43920440T	ST3GAL3	NM_006279.5(ST3GAL3):c.781C>T:p.Arg261Ter	coding	Pathogenic
1	43920467	C	T	C43920467T	ST3GAL3	NM_006279.5(ST3GAL3):c.808C>T:p.Arg270Ter	coding	Pathogenic
1	43920633	C	T	C43920633T	ST3GAL3	NM_006279.5(ST3GAL3):c.891+83C>T	noncoding	Benign
1	43920970	G	C	G43920970C	ST3GAL3	NM_006279.5(ST3GAL3):c.1038+42G>C	noncoding	Benign
1	43929844	C	A	C43929844A	ST3GAL3	NM_006279.5(ST3GAL3):c.1039-288C>A	noncoding	Benign
1	43997498	G	A	G43997498A	SLC6A9	NM_001024845.3(SLC6A9):c.*47C>T	noncoding	Benign
1	43997532	C	T	C43997532T	SLC6A9	NM_001024845.3(SLC6A9):c.*13G>A	noncoding	Benign
1	43998042	T	C	T43998042C	SLC6A9	NM_001024845.3(SLC6A9):c.1537-17A>G	noncoding	Benign
1	43998216	T	C	T43998216C	SLC6A9	NM_001024845.3(SLC6A9):c.1537-191A>G	noncoding	Benign
1	44000934	G	A	G44000934A	SLC6A9	NM_001024845.3(SLC6A9):c.1435+22C>T	noncoding	Benign
1	44000937	C	T	C44000937T	SLC6A9	NM_001024845.3(SLC6A9):c.1435+19G>A	noncoding	Benign
1	44000938	G	A	G44000938A	SLC6A9	NM_001024845.3(SLC6A9):c.1435+18C>T	noncoding	Benign
1	44001710	T	A	T44001710A	SLC6A9	NM_001024845.3(SLC6A9):c.963-83A>T	noncoding	Benign
1	44002449	G	A	G44002449A	SLC6A9	NM_001024845.3(SLC6A9):c.859-33C>T	noncoding	Benign
1	44002563	G	A	G44002563A	SLC6A9	NM_001024845.3(SLC6A9):c.807C>T:p.Asp269=	coding	Benign
1	44002751	C	T	C44002751T	SLC6A9	NM_001024845.3(SLC6A9):c.723+102G>A	noncoding	Benign
1	44002768	C	T	C44002768T	SLC6A9	NM_001024845.3(SLC6A9):c.723+85G>A	noncoding	Benign
1	44008664	A	G	A44008664G	SLC6A9	NM_001024845.3(SLC6A9):c.320-41T>C	noncoding	Benign
1	44009736	T	C	T44009736C	SLC6A9	NM_001024845.3(SLC6A9):c.319+229A>G	noncoding	Benign
1	44009914	G	A	G44009914A	SLC6A9	NM_001024845.3(SLC6A9):c.319+51C>T	noncoding	Benign
1	44010315	T	C	T44010315C	SLC6A9	NM_001024845.3(SLC6A9):c.188-219A>G	noncoding	Benign
1	44010531	C	G	C44010531G	SLC6A9	NM_001024845.3(SLC6A9):c.187+195G>C	noncoding	Benign
1	44010680	G	T	G44010680T	SLC6A9	NM_001024845.3(SLC6A9):c.187+46C>A	noncoding	Benign
1	44024114	A	G	A44024114G	SLC6A9	NM_001024845.3(SLC6A9):c.30+134T>C	noncoding	Benign
1	44636124	G	A	G44636124A	RNF220	NM_018150.4(RNF220):c.1088G>A:p.Arg363Gln	coding	Pathogenic
1	44636130	G	A	G44636130A	RNF220	NM_018150.4(RNF220):c.1094G>A:p.Arg365Gln	coding	Pathogenic
1	44822855	C	G	C44822855G	PTCH2	NM_003738.5(PTCH2):c.3358-186G>C	noncoding	Benign
1	44823086	G	A	G44823086A	PTCH2	NM_003738.5(PTCH2):c.3340C>T:p.Leu1114=	coding	Benign
1	44826236	G	A	G44826236A	PTCH2	NM_003738.5(PTCH2):c.3114+14C>T	noncoding	Benign
1	44826811	C	T	C44826811T	PTCH2	NM_003738.5(PTCH2):c.2696-43G>A	noncoding	Benign
1	44827194	G	A	G44827194A	PTCH2	NM_003738.5(PTCH2):c.2487C>T:p.Asp829=	coding	Benign
1	44827313	G	A	G44827313A	PTCH2	NM_003738.5(PTCH2):c.2372-4C>T	noncoding	Benign
1	44827385	G	A	G44827385A	PTCH2	NM_003738.5(PTCH2):c.2371+17C>T	noncoding	Benign
1	44827846	A	G	A44827846G	PTCH2	NM_003738.5(PTCH2):c.2055T>C:p.Ala685=	coding	Benign
1	44828080	T	C	T44828080C	PTCH2	NM_003738.5(PTCH2):c.1821A>G:p.Glu607=	coding	Benign
1	44828484	T	C	T44828484C	PTCH2	NM_003738.5(PTCH2):c.1590+22A>G	noncoding	Benign
1	44830605	G	A	G44830605A	PTCH2	NM_003738.5(PTCH2):c.813+243C>T	noncoding	Benign
1	44831956	T	G	T44831956G	PTCH2	NM_003738.5(PTCH2):c.525+19A>C	noncoding	Benign
1	44832081	A	G	A44832081G	PTCH2	NM_003738.5(PTCH2):c.456-37T>C	noncoding	Benign
1	44832286	C	T	C44832286T	PTCH2	NM_003738.5(PTCH2):c.321G>A:p.Glu107=	coding	Benign
1	44841834	G	A	G44841834A	PTCH2	NM_003738.5(PTCH2):c.265+13C>T	noncoding	Benign
1	44842737	G	A	G44842737A	PTCH2	NM_003738.5(PTCH2):c.72+124C>T	noncoding	Benign
1	44875031	T	C	T44875031C	EIF2B3	NM_020365.5(EIF2B3):c.1054-205A>G	noncoding	Benign
1	44875607	C	T	C44875607T	EIF2B3	NM_020365.5(EIF2B3):c.1053+11G>A	noncoding	Benign
1	44897578	G	A	G44897578A	EIF2B3	NM_020365.5(EIF2B3):c.567-134C>T	noncoding	Benign
1	44897628	G	C	G44897628C	EIF2B3	NM_020365.5(EIF2B3):c.567-184C>G	noncoding	Benign
1	44978094	G	A	G44978094A	EIF2B3	NM_020365.5(EIF2B3):c.294+221C>T	noncoding	Benign
1	44978222	T	C	T44978222C	EIF2B3	NM_020365.5(EIF2B3):c.294+93A>G	noncoding	Benign
1	45013201	G	T	G45013201T	UROD	NM_000374.5(UROD):c.199G>T:p.Glu67Ter	coding	Pathogenic
1	45013741	C	T	C45013741T	UROD	NM_000374.5(UROD):c.424C>T:p.Arg142Ter	coding	Pathogenic
1	45013747	C	T	C45013747T	UROD	NM_000374.5(UROD):c.430C>T:p.Arg144Ter	coding	Pathogenic
1	45013931	T	C	T45013931C	UROD	NM_000374.5(UROD):c.497T>C:p.Val166Ala	coding	Pathogenic
1	45014050	C	T	C45014050T	UROD	NM_000374.5(UROD):c.616C>T:p.Gln206Ter	coding	Pathogenic
1	45014202	G	T	G45014202T	UROD	NM_000374.5(UROD):c.636+132G>T	noncoding	Benign
1	45014922	C	T	C45014922T	UROD	NM_000374.5(UROD):c.876-18C>T	noncoding	Benign
1	45015061	C	T	C45015061T	UROD	NM_000374.5(UROD):c.942+55C>T	noncoding	Benign
1	45327380	G	A	G45327380A	HPDL	NM_032756.4(HPDL):c.232G>A:p.Ala78Thr	coding	Pathogenic/Likely_pathogenic
1	45327675	T	C	T45327675C	HPDL	NM_032756.4(HPDL):c.527T>C:p.Leu176Pro	coding	Pathogenic
1	45327945	T	C	T45327945C	HPDL	NM_032756.4(HPDL):c.797T>C:p.Ile266Thr	coding	Pathogenic/Likely_pathogenic
1	45328343	G	A	G45328343A	HPDL	NM_032756.4(HPDL):c.*79G>A	noncoding	Benign
1	45329414	G	A	G45329414A	MUTYH	NM_001048174.2(MUTYH):c.1458C>T:p.Ser486=	coding	Benign/Likely_benign
1	45330443	G	A	G45330443A	MUTYH	NM_001048174.2(MUTYH):c.1434+73C>T	noncoding	Benign
1	45330585	C	T	C45330585T	MUTYH	NM_001048174.2(MUTYH):c.1393-28G>A	noncoding	Benign/Likely_benign
1	45330682	G	T	G45330682T	MUTYH	NM_001048174.2(MUTYH):c.1393-125C>A	noncoding	Benign
1	45331187	T	A	T45331187A	MUTYH	NM_001048174.2(MUTYH):c.1387A>T:p.Lys463Ter	coding	Pathogenic/Likely_pathogenic
1	45331211	T	G	T45331211G	MUTYH	NM_001048174.2(MUTYH):c.1363A>C:p.Thr455Pro	coding	Benign/Likely_benign
1	45331227	C	G	C45331227G	MUTYH	NM_001048174.2(MUTYH):c.1347G>C:p.Thr449=	coding	Benign/Likely_benign
1	45331290	A	C	A45331290C	MUTYH	NM_001048174.2(MUTYH):c.1284T>G:p.Tyr428Ter	coding	Pathogenic
1	45331298	G	A	G45331298A	MUTYH	NM_001048174.2(MUTYH):c.1276C>T:p.Gln426Ter	coding	Pathogenic
1	45331419	C	T	C45331419T	MUTYH	NM_001048174.2(MUTYH):c.1239+1G>A	noncoding	Pathogenic
1	45331517	C	T	C45331517T	MUTYH	NM_001048174.2(MUTYH):c.1142G>A:p.Trp381Ter	coding	Pathogenic
1	45331528	C	T	C45331528T	MUTYH	NM_001048174.2(MUTYH):c.1131G>A:p.Pro377=	coding	Benign/Likely_benign
1	45331538	C	T	C45331538T	MUTYH	NM_001048174.2(MUTYH):c.1121G>A:p.Trp374Ter	coding	Pathogenic
1	45331583	G	A	G45331583A	MUTYH	NM_001048174.2(MUTYH):c.1103-27C>T	noncoding	Benign/Likely_benign
1	45331803	G	A	G45331803A	MUTYH	NM_001048174.2(MUTYH):c.960C>T:p.Pro320=	coding	Benign/Likely_benign
1	45331850	C	A	C45331850A	MUTYH	NM_001048174.2(MUTYH):c.914-1G>T	coding	Pathogenic/Likely_pathogenic
1	45331899	G	A	G45331899A	MUTYH	NM_001048174.2(MUTYH):c.914-50C>T	noncoding	Benign
1	45332097	C	G	C45332097G	MUTYH	NM_001048174.2(MUTYH):c.850-11G>C	noncoding	Benign/Likely_benign
1	45332204	G	A	G45332204A	MUTYH	NM_001048174.2(MUTYH):c.811C>T:p.Gln271Ter	coding	Pathogenic
1	45332279	G	A	G45332279A	MUTYH	NM_001048174.2(MUTYH):c.736C>T:p.Arg246Trp	coding	Pathogenic/Likely_pathogenic
1	45332375	T	C	T45332375C	MUTYH	NM_001048174.2(MUTYH):c.704+16A>G	noncoding	Benign
1	45332574	C	T	C45332574T	MUTYH	NM_001048174.2(MUTYH):c.606G>A:p.Gln202=	coding	Pathogenic/Likely_pathogenic
1	45332637	C	T	C45332637T	MUTYH	NM_001048174.2(MUTYH):c.543G>A:p.Gln181=	coding	Benign/Likely_benign
1	45332639	G	A	G45332639A	MUTYH	NM_001048174.2(MUTYH):c.541C>T:p.Gln181Ter	coding	Pathogenic
1	45332825	G	A	G45332825A	MUTYH	NM_001048174.2(MUTYH):c.430C>T:p.Gln144Ter	coding	Pathogenic
1	45332829	C	T	C45332829T	MUTYH	NM_001048174.2(MUTYH):c.426G>A:p.Val142=	coding	Benign/Likely_benign
1	45332916	A	G	A45332916G	MUTYH	NM_001048174.2(MUTYH):c.420+2T>C	noncoding	Pathogenic/Likely_pathogenic
1	45332954	C	T	C45332954T	MUTYH	NM_001048174.2(MUTYH):c.384G>A:p.Trp128Ter	coding	Pathogenic
1	45333289	A	T	A45333289T	MUTYH	NM_001048174.2(MUTYH):c.300T>A:p.Tyr100Ter	coding	Pathogenic
1	45333487	C	A	C45333487A	MUTYH	NM_001048174.2(MUTYH):c.190G>T:p.Glu64Ter	coding	Pathogenic
1	45333529	G	A	G45333529A	MUTYH	NM_001048174.2(MUTYH):c.148C>T:p.Gln50Ter	coding	Pathogenic
1	45334419	G	A	G45334419A	MUTYH	NM_001048174.2(MUTYH):c.87C>T:p.Asn29=	coding	Benign/Likely_benign
1	45334470	G	A	G45334470A	MUTYH	NM_001048174.2(MUTYH):c.36C>T:p.His12=	coding	Benign/Likely_benign
1	45334518	C	T	C45334518T	MUTYH	NM_001048174.2(MUTYH):c.-6-7G>A	noncoding	Benign/Likely_benign
1	45338378	C	T	C45338378T	MUTYH	NM_001048174.2(MUTYH):c.-7+1521G>A	noncoding	Benign
1	45339894	G	C	G45339894C	MUTYH	NM_001048174.2(MUTYH):c.-7+5C>G	coding	Benign
1	45340760	C	T	C45340760T	MUTYH	NM_025077.4(TOE1):c.53-313C>T	noncoding	Benign
1	45341078	G	C	G45341078C	TOE1	NM_025077.4(TOE1):c.58G>C:p.Val20Leu	coding	Benign
1	45341096	T	G	T45341096G	TOE1	NM_025077.4(TOE1):c.76T>G:p.Ser26Ala	coding	Benign
1	45341261	G	A	G45341261A	TOE1	NM_025077.4(TOE1):c.196-42G>A	noncoding	Benign
1	45341934	T	G	T45341934G	TOE1	NM_025077.4(TOE1):c.334-15T>G	noncoding	Benign
1	45342917	G	C	G45342917C	TOE1	NM_025077.4(TOE1):c.827G>C:p.Ser276Thr	coding	Benign
1	45343191	G	A	G45343191A	TOE1	NM_025077.4(TOE1):c.1022G>A:p.Arg341His	coding	Benign
1	45345193	G	A	G45345193A	TESK2	NM_007170.3(TESK2):c.1363C>T:p.Arg455Cys	coding	Benign
1	45500334	T	G	T45500334G	MMACHC	NM_015506.3(MMACHC):c.2T>G:p.Met1Arg	coding	Pathogenic/Likely_pathogenic
1	45507456	G	C	G45507456C	MMACHC	NM_015506.3(MMACHC):c.182G>C:p.Arg61Pro	coding	Pathogenic/Likely_pathogenic
1	45507567	T	A	T45507567A	MMACHC	NM_015506.3(MMACHC):c.276+17T>A	noncoding	Benign/Likely_benign
1	45507956	T	C	T45507956C	MMACHC	NM_015506.3(MMACHC):c.277-256T>C	noncoding	Benign
1	45508022	C	T	C45508022T	MMACHC	NM_015506.3(MMACHC):c.277-190C>T	noncoding	Benign
1	45508287	C	T	C45508287T	MMACHC	NM_015506.3(MMACHC):c.352C>T:p.Gln118Ter	coding	Pathogenic
1	45508323	T	C	T45508323C	MMACHC	NM_015506.3(MMACHC):c.388T>C:p.Tyr130His	coding	Pathogenic
1	45508354	G	A	G45508354A	MMACHC	NM_015506.3(MMACHC):c.419G>A:p.Trp140Ter	coding	Pathogenic
1	45508815	T	A	T45508815A	MMACHC	NM_015506.3(MMACHC):c.449T>A:p.Ile150Lys	coding	Pathogenic
1	45508965	G	A	G45508965A	MMACHC	NM_015506.3(MMACHC):c.599G>A:p.Trp200Ter	coding	Pathogenic
1	45508966	G	A	G45508966A	MMACHC	NM_015506.3(MMACHC):c.600G>A:p.Trp200Ter	coding	Pathogenic
1	45509009	T	C	T45509009C	MMACHC	NM_015506.3(MMACHC):c.643T>C:p.Tyr215His	coding	Pathogenic
1	45514967	G	A	G45514967A	PRDX1	NM_181697.3(PRDX1):c.289C>T:p.Leu97=	coding	Benign
1	45515190	T	G	T45515190G	PRDX1	NM_181697.3(PRDX1):c.261-195A>C	noncoding	Benign
1	45515822	G	A	G45515822A	PRDX1	NM_181697.3(PRDX1):c.107-15C>T	noncoding	Benign
1	45515840	T	C	T45515840C	PRDX1	NM_181697.3(PRDX1):c.107-33A>G	noncoding	Benign
1	46177421	A	G	A46177421G	TSPAN1	NM_005727.4(TSPAN1):c.-142+2012A>G	noncoding	Benign
1	46189376	A	G	A46189376G	POMGNT1	NM_017739.4(POMGNT1):c.1896-19T>C	noncoding	Benign
1	46189512	A	T	A46189512T	POMGNT1	NM_017739.4(POMGNT1):c.1841T>A:p.Leu614Ter	coding	Pathogenic
1	46189565	G	T	G46189565T	POMGNT1	NM_017739.4(POMGNT1):c.1788C>A:p.Cys596Ter	coding	Pathogenic
1	46189685	T	G	T46189685G	POMGNT1	NM_017739.4(POMGNT1):c.1786-118A>C	noncoding	Benign
1	46189823	G	T	G46189823T	POMGNT1	NM_017739.4(POMGNT1):c.1785+31C>A	noncoding	Benign/Likely_benign
1	46190499	A	C	A46190499C	POMGNT1	NM_017739.4(POMGNT1):c.1623T>G:p.Tyr541Ter	coding	Pathogenic
1	46192148	G	A	G46192148A	POMGNT1	NM_017739.4(POMGNT1):c.1489C>T:p.Arg497Ter	coding	Pathogenic
1	46192379	C	G	C46192379G	POMGNT1	NM_017739.4(POMGNT1):c.1342G>C:p.Gly448Arg	coding	Pathogenic
1	46192958	C	A	C46192958A	POMGNT1	NM_017739.4(POMGNT1):c.1153G>T:p.Glu385Ter	coding	Pathogenic
1	46193873	C	T	C46193873T	POMGNT1	NM_017739.4(POMGNT1):c.932G>A:p.Arg311Gln	coding	Pathogenic/Likely_pathogenic
1	46193964	C	G	C46193964G	POMGNT1	NM_017739.4(POMGNT1):c.880-39G>C	noncoding	Benign/Likely_benign
1	46194843	C	A	C46194843A	POMGNT1	NM_017739.4(POMGNT1):c.652+1G>T	noncoding	Pathogenic/Likely_pathogenic
1	46194866	C	A	C46194866A	POMGNT1	NM_017739.4(POMGNT1):c.630G>T:p.Trp210Cys	coding	Pathogenic/Likely_pathogenic
1	46194879	C	T	C46194879T	POMGNT1	NM_017739.4(POMGNT1):c.617G>A:p.Trp206Ter	coding	Pathogenic
1	46194901	G	A	G46194901A	POMGNT1	NM_017739.4(POMGNT1):c.595C>T:p.Gln199Ter	coding	Pathogenic
1	46196104	G	A	G46196104A	POMGNT1	NM_017739.4(POMGNT1):c.355-27C>T	noncoding	Benign/Likely_benign
1	46197747	C	T	C46197747T	POMGNT1	NM_017739.4(POMGNT1):c.75G>A:p.Trp25Ter	coding	Pathogenic
1	46197748	C	T	C46197748T	POMGNT1	NM_017739.4(POMGNT1):c.74G>A:p.Trp25Ter	coding	Pathogenic
1	46198577	A	G	A46198577G	POMGNT1	NM_001243766.2(POMGNT1):c.-50-706T>C	noncoding	Benign
1	46248570	A	G	A46248570G	RAD54L	NM_003579.4(RAD54L):c.62A>G:p.Asp21Gly	coding	Benign
1	46267664	G	C	G46267664C	RAD54L	NM_003579.4(RAD54L):c.1042+55G>C	noncoding	Benign
1	46267687	G	A	G46267687A	RAD54L	NM_003579.4(RAD54L):c.1042+78G>A	noncoding	Benign
1	46273737	C	T	C46273737T	RAD54L	NM_003579.4(RAD54L):c.1600C>T:p.Arg534Cys	coding	Benign/Likely_benign
1	46278228	C	T	C46278228T	RAD54L	NM_003579.4(RAD54L):c.2190C>T:p.Ala730=	coding	Benign
1	47224170	C	G	C47224170G	TAL1	NM_001290403.2(TAL1):c.447-72G>C	noncoding	Benign
1	47225320	C	G	C47225320G	TAL1	NM_001290403.2(TAL1):c.446+123G>C	noncoding	Benign
1	47271965	T	C	T47271965C	STIL	NM_001048166.1(STIL):c.2383+111A>G	noncoding	Benign
1	47279972	A	C	A47279972C	STIL	NM_001048166.1(STIL):c.2217+269T>G	noncoding	Benign
1	47281321	G	A	G47281321A	STIL	NM_001048166.1(STIL):c.1249-112C>T	noncoding	Benign
1	47281418	T	C	T47281418C	STIL	NM_001048166.1(STIL):c.1249-209A>G	noncoding	Benign
1	47287752	T	A	T47287752A	STIL	NM_001048166.1(STIL):c.1024-92A>T	noncoding	Benign
1	47287997	T	C	T47287997C	STIL	NM_001048166.1(STIL):c.1024-337A>G	noncoding	Benign
1	47300475	T	C	T47300475C	STIL	NM_001048166.1(STIL):c.454-323A>G	noncoding	Benign
1	47301543	G	A	G47301543A	STIL	NM_001048166.1(STIL):c.453+18C>T	noncoding	Benign/Likely_benign
1	47302401	C	A	C47302401A	STIL	NM_001048166.1(STIL):c.153-55G>T	noncoding	Benign
1	47304591	G	A	G47304591A	STIL	NM_001048166.1(STIL):c.152+298C>T	noncoding	Benign
1	47304744	G	A	G47304744A	STIL	NM_001048166.1(STIL):c.152+145C>T	noncoding	Benign
1	47309975	G	T	G47309975T	STIL	NM_001048166.1(STIL):c.44+301C>A	noncoding	Benign
1	47310673	A	C	A47310673C	STIL	NM_001048166.1(STIL):c.-43-311T>G	noncoding	Benign
1	47416226	G	T	G47416226T	FOXE3	Single_allele	noncoding	Benign
1	47416450	G	A	G47416450A	FOXE3	NM_012186.3(FOXE3):c.135G>A:p.Ala45=	coding	Benign
1	47416947	C	A	C47416947A	FOXE3	NM_012186.3(FOXE3):c.632C>A:p.Ser211Ter	coding	Pathogenic
1	47417146	C	T	C47417146T	FOXE3	NM_012186.3(FOXE3):c.831C>T:p.Gly277=	coding	Benign/Likely_benign
1	47417273	T	C	T47417273C	FOXE3	NM_012186.3(FOXE3):c.958T>C:p.Ter320Arg	coding	Pathogenic
1	47417347	T	C	T47417347C	FOXE3	NM_012186.3(FOXE3):c.*72T>C	noncoding	Benign
1	47417352	A	G	A47417352G	FOXE3	NM_012186.3(FOXE3):c.*77A>G	noncoding	Benign
1	48228922	G	A	G48228922A	SLC5A9	NM_001011547.3(SLC5A9):c.307G>A:p.Gly103Arg	coding	Benign
1	50418864	C	T	C50418864T	DMRTA2	NM_032110.3(DMRTA2):c.1430G>A:p.Ser477Asn	coding	Benign
1	50419106	G	A	G50419106A	DMRTA2	NM_032110.3(DMRTA2):c.1188C>T:p.Ala396=	coding	Benign
1	50419112	G	A	G50419112A	DMRTA2	NM_032110.3(DMRTA2):c.1182C>T:p.Ala394=	coding	Benign
1	52374989	A	G	A52374989G	ORC1	NM_004153.4(ORC1):c.2304-92T>C	noncoding	Benign
1	52381585	C	G	C52381585G	ORC1	NM_004153.4(ORC1):c.2133+57G>C	noncoding	Benign
1	52381799	C	T	C52381799T	ORC1	NM_004153.4(ORC1):c.2014-38G>A	noncoding	Benign
1	52383568	A	G	A52383568G	ORC1	NM_004153.4(ORC1):c.1865T>C:p.Leu622Pro	coding	Pathogenic
1	52384306	A	G	A52384306G	ORC1	NM_004153.4(ORC1):c.1755+244T>C	noncoding	Benign
1	52384774	T	C	T52384774C	ORC1	NM_004153.4(ORC1):c.1584-53A>G	noncoding	Benign
1	52385109	A	G	A52385109G	ORC1	NM_004153.4(ORC1):c.1583+52T>C	noncoding	Benign
1	52386047	G	C	G52386047C	ORC1	NM_004153.4(ORC1):c.1384-98C>G	noncoding	Benign
1	52386057	G	A	G52386057A	ORC1	NM_004153.4(ORC1):c.1384-108C>T	noncoding	Benign
1	52388495	G	A	G52388495A	ORC1	NM_004153.4(ORC1):c.1330C>T:p.Arg444Ter	coding	Pathogenic
1	52389332	C	A	C52389332A	ORC1	NM_004153.4(ORC1):c.1083-11G>T	noncoding	Benign
1	52389338	C	A	C52389338A	ORC1	NM_004153.4(ORC1):c.1083-17G>T	noncoding	Benign
1	52389375	C	T	C52389375T	ORC1	NM_004153.4(ORC1):c.1083-54G>A	noncoding	Benign
1	52396366	T	G	T52396366G	ORC1	NM_004153.4(ORC1):c.403-2A>C	noncoding	Pathogenic
1	52397673	G	A	G52397673A	ORC1	NM_004153.4(ORC1):c.402+12C>T	noncoding	Benign/Likely_benign
1	52401368	C	T	C52401368T	ORC1	NM_004153.4(ORC1):c.217G>A:p.Glu73Lys	coding	Pathogenic
1	52401396	C	A	C52401396A	ORC1	NM_004153.4(ORC1):c.189G>T:p.Pro63=	coding	Benign/Likely_benign
1	52687760	T	C	T52687760C	COA7	NM_023077.3(COA7):c.656A>G:p.Lys219Arg	coding	Benign
1	52688204	G	C	G52688204C	COA7	NM_023077.3(COA7):c.248-36C>G	noncoding	Benign
1	52698478	G	T	G52698478T	COA7	Single_allele	noncoding	Benign
1	52698548	C	T	C52698548T	COA7	Single_allele	noncoding	Benign
1	52927236	A	G	A52927236G	SCP2	Single_allele	noncoding	Benign
1	52927317	A	T	A52927317T	SCP2	NM_002979.5(SCP2):c.-80A>T	noncoding	Benign
1	52927340	C	T	C52927340T	SCP2	NM_002979.5(SCP2):c.-57C>T	noncoding	Benign
1	52950880	C	T	C52950880T	SCP2	NM_002979.5(SCP2):c.325C>T:p.Gln109Ter	coding	Pathogenic
1	52961587	C	T	C52961587T	SCP2	NM_002979.5(SCP2):c.481C>T:p.Gln161Ter	coding	Pathogenic
1	52961849	A	G	A52961849G	SCP2	NM_002979.5(SCP2):c.523+220A>G	noncoding	Benign
1	52978122	A	G	A52978122G	SCP2	NM_002979.5(SCP2):c.675-95A>G	noncoding	Benign
1	52980296	A	G	A52980296G	SCP2	NM_002979.5(SCP2):c.826-100A>G	noncoding	Benign
1	52987968	A	G	A52987968G	SCP2	NM_002979.5(SCP2):c.974-61A>G	noncoding	Benign
1	52987986	T	C	T52987986C	SCP2	NM_002979.5(SCP2):c.974-43T>C	noncoding	Benign
1	52988258	A	T	A52988258T	SCP2	NM_002979.5(SCP2):c.1081+122A>T	noncoding	Benign
1	52993509	A	C	A52993509C	SCP2	NM_002979.5(SCP2):c.1081+5373A>C	coding	Benign
1	53014919	C	T	C53014919T	SCP2	NM_002979.5(SCP2):c.1111C>T:p.Gln371Ter	coding	Pathogenic
1	53027868	T	C	T53027868C	SCP2	NM_002979.5(SCP2):c.1236-101T>C	noncoding	Benign
1	53028148	G	A	G53028148A	SCP2	NM_002979.5(SCP2):c.1338+77G>A	noncoding	Benign
1	53028150	G	T	G53028150T	SCP2	NM_002979.5(SCP2):c.1338+79G>T	noncoding	Benign
1	53028397	T	G	T53028397G	SCP2	NM_002979.5(SCP2):c.1338+326T>G	noncoding	Benign
1	53038739	G	A	G53038739A	SCP2	NM_002979.5(SCP2):c.1339-178G>A	noncoding	Benign
1	53039200	C	T	C53039200T	SCP2	NM_002979.5(SCP2):c.1468+154C>T	noncoding	Benign
1	53047751	C	T	C53047751T	SCP2	NM_002979.5(SCP2):c.1469-107C>T	noncoding	Benign
1	53047765	T	C	T53047765C	SCP2	NM_002979.5(SCP2):c.1469-93T>C	noncoding	Benign
1	53048096	C	G	C53048096G	SCP2	NM_002979.5(SCP2):c.1548+159C>G	noncoding	Benign
1	53048165	G	C	G53048165C	SCP2	NM_002979.5(SCP2):c.1548+228G>C	noncoding	Benign
1	53050322	G	A	G53050322A	SCP2	NM_002979.5(SCP2):c.1549-287G>A	noncoding	Benign
1	53050345	G	C	G53050345C	SCP2	NM_002979.5(SCP2):c.1549-264G>C	noncoding	Benign
1	53092598	A	G	A53092598G	SLC1A7	NM_006671.6(SLC1A7):c.987T>C:p.Arg329=	coding	Benign
1	53196294	G	A	G53196294A	CPT2	Single_allele	noncoding	Benign
1	53197078	C	G	C53197078G	CPT2	NM_000098.3(CPT2):c.135C>G:p.Tyr45Ter	coding	Pathogenic
1	53197151	C	A	C53197151A	CPT2	NM_000098.3(CPT2):c.152+56C>A	noncoding	Benign
1	53200754	G	T	G53200754T	CPT2	NM_000098.3(CPT2):c.188G>T:p.Arg63Ile	coding	Pathogenic
1	53200768	C	T	C53200768T	CPT2	NM_000098.3(CPT2):c.202C>T:p.Gln68Ter	coding	Pathogenic
1	53202549	C	T	C53202549T	CPT2	NM_000098.3(CPT2):c.340+120C>T	noncoding	Benign
1	53202550	G	A	G53202550A	CPT2	NM_000098.3(CPT2):c.340+121G>A	noncoding	Benign
1	53202551	T	A	T53202551A	CPT2	NM_000098.3(CPT2):c.340+122T>A	noncoding	Benign
1	53210021	G	A	G53210021A	CPT2	NM_000098.3(CPT2):c.347G>A:p.Trp116Ter	coding	Pathogenic
1	53210033	A	G	A53210033G	CPT2	NM_000098.3(CPT2):c.359A>G:p.Tyr120Cys	coding	Pathogenic/Likely_pathogenic
1	53210125	C	T	C53210125T	CPT2	NM_000098.3(CPT2):c.451C>T:p.Arg151Trp	coding	Pathogenic
1	53210277	G	A	G53210277A	CPT2	NM_000098.3(CPT2):c.603G>A:p.Trp201Ter	coding	Pathogenic
1	53210395	A	T	A53210395T	CPT2	NM_000098.3(CPT2):c.721A>T:p.Arg241Ter	coding	Pathogenic
1	53210419	G	T	G53210419T	CPT2	NM_000098.3(CPT2):c.745G>T:p.Gly249Ter	coding	Pathogenic
1	53211013	C	T	C53211013T	CPT2	NM_000098.3(CPT2):c.1339C>T:p.Gln447Ter	coding	Pathogenic
1	53211019	C	T	C53211019T	CPT2	NM_000098.3(CPT2):c.1345C>T:p.Gln449Ter	coding	Pathogenic/Likely_pathogenic
1	53211022	A	T	A53211022T	CPT2	NM_000098.3(CPT2):c.1348A>T:p.Arg450Ter	coding	Pathogenic/Likely_pathogenic
1	53211076	C	T	C53211076T	CPT2	NM_000098.3(CPT2):c.1402C>T:p.Gln468Ter	coding	Pathogenic
1	53211133	G	T	G53211133T	CPT2	NM_000098.3(CPT2):c.1459G>T:p.Glu487Ter	coding	Pathogenic
1	53213278	C	T	C53213278T	CPT2	NM_000098.3(CPT2):c.1660C>T:p.Arg554Ter	coding	Pathogenic
1	53213416	G	A	G53213416A	CPT2	NM_000098.3(CPT2):c.1798G>A:p.Gly600Arg	coding	Pathogenic
1	53213617	A	T	A53213617T	CPT2	NM_000098.3(CPT2):c.*22A>T	noncoding	Benign
1	53213670	T	C	T53213670C	CPT2	NM_000098.3(CPT2):c.*75T>C	noncoding	Benign
1	53894492	C	A	C53894492A	DIO1	NM_000792.7(DIO1):c.282C>A:p.Asn94Lys	coding	Pathogenic
1	53906216	G	A	G53906216A	DIO1	NM_000792.7(DIO1):c.603G>A:p.Met201Ile	coding	Pathogenic
1	53921904	T	C	T53921904C	HSPB11	NM_016126.4(HSPB11):c.319-137A>G	noncoding	Benign
1	53923798	C	A	C53923798A	HSPB11	NM_016126.4(HSPB11):c.318+106G>T	noncoding	Benign
1	53923985	T	G	T53923985G	HSPB11	NM_016126.4(HSPB11):c.275-38A>C	noncoding	Benign
1	53928480	T	C	T53928480C	HSPB11	NM_016126.4(HSPB11):c.206-40A>G	noncoding	Benign
1	53929815	G	C	G53929815C	HSPB11	NM_016126.4(HSPB11):c.205+224C>G	noncoding	Benign
1	54609779	G	A	G54609779A	FAM151A	NM_176782.3(FAM151A):c.1247C>T:p.Ala416Val	coding	Benign
1	54610757	A	G	A54610757G	ACOT11	NM_176782.3(FAM151A):c.941-202T>C	noncoding	Benign
1	54757517	C	T	C54757517T	PARS2	NM_152268.4(PARS2):c.*217G>A	noncoding	Benign
1	54757863	C	T	C54757863T	PARS2	NM_152268.4(PARS2):c.1299G>A:p.Val433=	coding	Benign/Likely_benign
1	54758004	G	A	G54758004A	PARS2	NM_152268.4(PARS2):c.1158C>T:p.Ala386=	coding	Benign/Likely_benign
1	54758008	G	A	G54758008A	PARS2	NM_152268.4(PARS2):c.1154C>T:p.Ala385Val	coding	Benign/Likely_benign
1	54758046	G	A	G54758046A	PARS2	NM_152268.4(PARS2):c.1116C>T:p.Ala372=	coding	Benign/Likely_benign
1	54759352	C	G	C54759352G	PARS2	NM_152268.4(PARS2):c.-29-162G>C	noncoding	Benign
1	54759356	C	T	C54759356T	PARS2	NM_152268.4(PARS2):c.-29-166G>A	noncoding	Benign
1	54764554	G	A	G54764554A	PARS2	Single_allele	noncoding	Benign
1	54764560	T	C	T54764560C	PARS2	Single_allele	noncoding	Benign
1	54764662	G	C	G54764662C	PARS2	Single_allele	noncoding	Benign
1	54852435	C	T	C54852435T	DHCR24	NM_014762.4(DHCR24):c.1398-49G>A	noncoding	Benign
1	54852673	T	C	T54852673C	DHCR24	NM_014762.4(DHCR24):c.1398-287A>G	noncoding	Benign
1	54853335	T	C	T54853335C	DHCR24	NM_014762.4(DHCR24):c.1397+99A>G	noncoding	Benign
1	54854036	C	T	C54854036T	DHCR24	NM_014762.4(DHCR24):c.1218+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	54854051	G	A	G54854051A	DHCR24	NM_014762.4(DHCR24):c.1204C>T:p.Gln402Ter	coding	Pathogenic
1	54865033	C	G	C54865033G	DHCR24	NM_014762.4(DHCR24):c.1020+270G>C	noncoding	Benign
1	54865083	G	C	G54865083C	DHCR24	NM_014762.4(DHCR24):c.1020+220C>G	noncoding	Benign
1	54871277	C	G	C54871277G	DHCR24	NM_014762.4(DHCR24):c.876+73G>C	noncoding	Benign
1	54871642	C	G	C54871642G	DHCR24	NM_014762.4(DHCR24):c.613-29G>C	noncoding	Benign
1	54871707	A	G	A54871707G	DHCR24	NM_014762.4(DHCR24):c.613-94T>C	noncoding	Benign
1	54871773	T	C	T54871773C	DHCR24	NM_014762.4(DHCR24):c.613-160A>G	noncoding	Benign
1	54871867	T	C	T54871867C	DHCR24	NM_014762.4(DHCR24):c.613-254A>G	noncoding	Benign
1	54875433	C	T	C54875433T	DHCR24	NM_014762.4(DHCR24):c.494-222G>A	noncoding	Benign
1	54875678	G	T	G54875678T	DHCR24	NM_014762.4(DHCR24):c.493+264C>A	noncoding	Benign
1	54875928	T	C	T54875928C	DHCR24	NM_014762.4(DHCR24):c.493+14A>G	noncoding	Benign
1	54876242	T	G	T54876242G	DHCR24	NM_014762.4(DHCR24):c.388-195A>C	noncoding	Benign
1	54876379	C	T	C54876379T	DHCR24	NM_014762.4(DHCR24):c.388-332G>A	noncoding	Benign
1	54883599	G	A	G54883599A	DHCR24	NM_014762.4(DHCR24):c.387+19C>T	noncoding	Benign
1	54886636	C	T	C54886636T	DHCR24	NM_014762.4(DHCR24):c.231+253G>A	noncoding	Benign
1	54886724	A	C	A54886724C	DHCR24	NM_014762.4(DHCR24):c.231+165T>G	noncoding	Benign
1	54887409	C	G	C54887409G	DHCR24	Single_allele	noncoding	Benign
1	54998647	C	T	C54998647T	BSND	Single_allele	noncoding	Benign
1	54998739	A	G	A54998739G	BSND	Single_allele	noncoding	Benign
1	54998838	C	G	C54998838G	BSND	Single_allele	noncoding	Benign
1	54998926	C	T	C54998926T	BSND	Single_allele	noncoding	Benign
1	54999283	G	C	G54999283C	BSND	NM_057176.3(BSND):c.97G>C:p.Val33Leu	coding	Pathogenic
1	54999378	G	C	G54999378C	BSND	NM_057176.3(BSND):c.177+15G>C	noncoding	Benign/Likely_benign
1	54999386	G	A	G54999386A	BSND	NM_057176.3(BSND):c.177+23G>A	noncoding	Benign
1	55005138	G	A	G55005138A	BSND	NM_057176.3(BSND):c.272+22G>A	noncoding	Benign
1	55006692	G	A	G55006692A	BSND	NM_057176.3(BSND):c.273-305G>A	noncoding	Benign
1	55007007	C	T	C55007007T	BSND	NM_057176.3(BSND):c.283C>T:p.Gln95Ter	coding	Pathogenic
1	55007076	C	T	C55007076T	BSND	NM_057176.3(BSND):c.352C>T:p.Gln118Ter	coding	Pathogenic
1	55007370	G	A	G55007370A	BSND	NM_057176.3(BSND):c.548+98G>A	noncoding	Benign
1	55056233	A	T	A55056233T	PCSK9	NM_174936.4(PCSK9):c.996+44A>T	noncoding	Benign
1	55058483	C	G	C55058483G	PCSK9	NM_174936.4(PCSK9):c.1355-16C>G	noncoding	Benign
1	55059673	T	C	T55059673C	PCSK9	NM_174936.4(PCSK9):c.1681+10T>C	noncoding	Benign/Likely_benign
1	56867631	C	T	C56867631T	C8A	NM_000562.3(C8A):c.100C>T:p.Pro34Ser	coding	Benign
1	56867638	C	A	C56867638A	C8A	NM_000562.3(C8A):c.107C>A:p.Ala36Glu	coding	Benign
1	56867639	A	G	A56867639G	C8A	NM_000562.3(C8A):c.108A>G:p.Ala36=	coding	Benign
1	56867703	G	T	G56867703T	C8A	NM_000562.3(C8A):c.171+1G>T	coding	Pathogenic
1	56867710	A	G	A56867710G	C8A	NM_000562.3(C8A):c.171+8A>G	noncoding	Benign
1	56874953	G	A	G56874953A	C8A	NM_000562.3(C8A):c.176G>A:p.Arg59Gln	coding	Benign
1	56876220	G	T	G56876220T	C8A	NM_000562.3(C8A):c.464+11G>T	noncoding	Benign
1	56881571	C	G	C56881571G	C8A	NM_000562.3(C8A):c.591C>G:p.Leu197=	coding	Benign
1	56881610	C	A	C56881610A	C8A	NM_000562.3(C8A):c.630C>A:p.Tyr210Ter	coding	Pathogenic
1	56881650	G	T	G56881650T	C8A	NM_000562.3(C8A):c.654+16G>T	noncoding	Benign
1	56885908	C	T	C56885908T	C8A	NM_000562.3(C8A):c.856-19C>T	noncoding	Benign
1	56908003	C	T	C56908003T	C8A	NM_000562.3(C8A):c.1270C>T:p.Arg424Ter	coding	Pathogenic
1	56908127	C	A	C56908127A	C8A	NM_000562.3(C8A):c.1380+14C>A	noncoding	Benign
1	56912514	C	T	C56912514T	C8A	NM_000562.3(C8A):c.1492C>T:p.Arg498Ter	coding	Pathogenic
1	56917684	C	T	C56917684T	C8A	NM_000562.3(C8A):c.1723C>T:p.Pro575Ser	coding	Benign
1	56917685	C	T	C56917685T	C8A	NM_000562.3(C8A):c.1724C>T:p.Pro575Leu	coding	Benign
1	56929578	T	C	T56929578C	C8B	NM_000066.4(C8B):c.1622-20A>G	noncoding	Benign
1	56933363	G	T	G56933363T	C8B	NM_000066.4(C8B):c.1524C>A:p.Cys508Ter	coding	Pathogenic
1	56940840	G	A	G56940840A	C8B	NM_000066.4(C8B):c.1398+9C>T	noncoding	Benign
1	56940892	C	G	C56940892G	C8B	NM_000066.4(C8B):c.1355G>C:p.Trp452Ser	coding	Benign
1	56940892	C	T	C56940892T	C8B	NM_000066.4(C8B):c.1355G>A:p.Trp452Ter	coding	Pathogenic
1	56940896	C	A	C56940896A	C8B	NM_000066.4(C8B):c.1351G>T:p.Glu451Ter	coding	Pathogenic
1	56945960	C	T	C56945960T	C8B	NM_000066.4(C8B):c.966G>A:p.Lys322=	coding	Benign
1	56949626	C	A	C56949626A	C8B	NM_000066.4(C8B):c.793G>T:p.Glu265Ter	coding	Pathogenic
1	56949637	G	A	G56949637A	C8B	NM_000066.4(C8B):c.782C>T:p.Pro261Leu	coding	Benign
1	56949680	T	A	T56949680A	C8B	NM_000066.4(C8B):c.739A>T:p.Lys247Ter	coding	Pathogenic
1	56949738	G	A	G56949738A	C8B	NM_000066.4(C8B):c.681C>T:p.Tyr227=	coding	Benign
1	56952129	A	G	A56952129G	C8B	NM_000066.4(C8B):c.585T>C:p.Tyr195=	coding	Benign
1	56954839	A	G	A56954839G	C8B	NM_000066.4(C8B):c.392-12T>C	noncoding	Benign
1	56956805	G	A	G56956805A	C8B	NM_000066.4(C8B):c.355C>T:p.Gln119Ter	coding	Pathogenic
1	56956808	T	A	T56956808A	C8B	NM_000066.4(C8B):c.352A>T:p.Ser118Cys	coding	Benign
1	56956811	C	T	C56956811T	C8B	NM_000066.4(C8B):c.349G>A:p.Gly117Arg	coding	Benign
1	56956812	G	T	G56956812T	C8B	NM_000066.4(C8B):c.348C>A:p.Cys116Ter	coding	Pathogenic
1	56956838	C	T	C56956838T	C8B	NM_000066.4(C8B):c.322G>A:p.Glu108Lys	coding	Benign
1	56956863	C	T	C56956863T	C8B	NM_000066.4(C8B):c.297G>A:p.Pro99=	coding	Benign
1	56956902	A	G	A56956902G	C8B	NM_000066.4(C8B):c.258T>C:p.Tyr86=	coding	Benign
1	56956930	G	C	G56956930C	C8B	NM_000066.4(C8B):c.250-20C>G	noncoding	Benign
1	56960137	G	C	G56960137C	C8B	NM_000066.4(C8B):c.132C>G:p.Asn44Lys	coding	Benign
1	56965922	C	T	C56965922T	C8B	NM_000066.4(C8B):c.27G>A:p.Trp9Ter	coding	Pathogenic
1	57011361	G	C	G57011361C	DAB1	NM_001365792.1(DAB1):c.1445-89C>G	noncoding	Benign
1	57011477	G	A	G57011477A	DAB1	NM_001365792.1(DAB1):c.1445-205C>T	noncoding	Benign
1	57014751	C	G	C57014751G	DAB1	NM_001365792.1(DAB1):c.1444+132G>C	noncoding	Benign
1	57015611	T	C	T57015611C	DAB1	NM_001365792.1(DAB1):c.896-180A>G	noncoding	Benign
1	57023464	T	C	T57023464C	DAB1	NM_001365792.1(DAB1):c.895+67A>G	noncoding	Benign
1	57023833	G	A	G57023833A	DAB1	NM_001365792.1(DAB1):c.787-194C>T	noncoding	Benign
1	57023856	A	C	A57023856C	DAB1	NM_001365792.1(DAB1):c.787-217T>G	noncoding	Benign
1	57062850	C	T	C57062850T	DAB1	NM_001365792.1(DAB1):c.723+34G>A	noncoding	Benign
1	57063099	A	G	A57063099G	DAB1	NM_001365792.1(DAB1):c.664-156T>C	noncoding	Benign
1	57069525	C	A	C57069525A	DAB1	NM_001365792.1(DAB1):c.598-100G>T	noncoding	Benign
1	57070909	T	C	T57070909C	DAB1	NM_001365792.1(DAB1):c.597+114A>G	noncoding	Benign
1	57071268	A	G	A57071268G	DAB1	NM_001365792.1(DAB1):c.559-207T>C	noncoding	Benign
1	57071389	G	A	G57071389A	DAB1	NM_001365792.1(DAB1):c.558+133C>T	noncoding	Benign
1	57072059	T	C	T57072059C	DAB1	NM_001365792.1(DAB1):c.438+224A>G	noncoding	Benign
1	57072082	C	G	C57072082G	DAB1	NM_001365792.1(DAB1):c.438+201G>C	noncoding	Benign
1	57072095	A	G	A57072095G	DAB1	NM_001365792.1(DAB1):c.438+188T>C	noncoding	Benign
1	57136661	G	A	G57136661A	DAB1	NM_001365792.1(DAB1):c.208-20C>T	noncoding	Benign
1	57136710	T	C	T57136710C	DAB1	NM_001365792.1(DAB1):c.208-69A>G	noncoding	Benign
1	57145503	G	C	G57145503C	DAB1	NM_001365792.1(DAB1):c.68-74C>G	noncoding	Benign
1	57145522	T	C	T57145522C	DAB1	NM_001365792.1(DAB1):c.68-93A>G	noncoding	Benign
1	57145657	A	G	A57145657G	DAB1	NM_001365792.1(DAB1):c.68-228T>C	noncoding	Benign
1	57291308	T	G	T57291308G	DAB1	NM_001365792.1(DAB1):c.-136-142A>C	noncoding	Benign
1	57291345	A	T	A57291345T	DAB1	NM_001365792.1(DAB1):c.-136-179T>A	noncoding	Benign
1	57291369	A	C	A57291369C	DAB1	NM_001365792.1(DAB1):c.-136-203T>G	noncoding	Benign
1	58536610	A	C	A58536610C	OMA1	NM_145243.5(OMA1):c.632T>G:p.Phe211Cys	coding	Benign
1	58660011	C	T	C58660011T	MYSM1	NM_001085487.3(MYSM1):c.2473G>A:p.Glu825Lys	coding	Benign
1	58660162	G	T	G58660162T	MYSM1	NM_001085487.3(MYSM1):c.2329-7C>A	noncoding	Benign
1	58660171	A	C	A58660171C	MYSM1	NM_001085487.3(MYSM1):c.2329-16T>G	noncoding	Benign
1	58661219	G	A	G58661219A	MYSM1	NM_001085487.3(MYSM1):c.2279C>T:p.Pro760Leu	coding	Benign
1	58661414	G	A	G58661414A	MYSM1	NM_001085487.3(MYSM1):c.2262C>T:p.Leu754=	coding	Benign
1	58661521	C	T	C58661521T	MYSM1	NM_001085487.3(MYSM1):c.2165-10G>A	noncoding	Benign
1	58665639	G	T	G58665639T	MYSM1	NM_001085487.3(MYSM1):c.2032-8C>A	noncoding	Benign
1	58667030	T	C	T58667030C	MYSM1	NM_001085487.3(MYSM1):c.2031+8A>G	noncoding	Benign
1	58667830	T	A	T58667830A	MYSM1	NM_001085487.3(MYSM1):c.1842+17A>T	noncoding	Benign
1	58668623	T	G	T58668623G	MYSM1	NM_001085487.3(MYSM1):c.1767+9A>C	noncoding	Benign
1	58668978	T	C	T58668978C	MYSM1	NM_001085487.3(MYSM1):c.1716+6A>G	noncoding	Benign
1	58669036	G	A	G58669036A	MYSM1	NM_001085487.3(MYSM1):c.1664C>T:p.Ser555Leu	coding	Benign
1	58673551	C	G	C58673551G	MYSM1	NM_001085487.3(MYSM1):c.1572+22G>C	noncoding	Benign
1	58673657	T	C	T58673657C	MYSM1	NM_001085487.3(MYSM1):c.1495-7A>G	noncoding	Benign
1	58675539	G	A	G58675539A	MYSM1	NM_001085487.3(MYSM1):c.1432C>T:p.Arg478Ter	coding	Pathogenic
1	58677041	T	C	T58677041C	MYSM1	NM_001085487.3(MYSM1):c.1275A>G:p.Pro425=	coding	Benign
1	58682254	T	C	T58682254C	MYSM1	NM_001085487.3(MYSM1):c.790A>G:p.Thr264Ala	coding	Benign
1	58682446	A	T	A58682446T	MYSM1	NM_001085487.3(MYSM1):c.598T>A:p.Cys200Ser	coding	Benign
1	58682464	T	C	T58682464C	MYSM1	NM_001085487.3(MYSM1):c.580A>G:p.Lys194Glu	coding	Benign
1	58685231	C	T	C58685231T	MYSM1	NM_001085487.3(MYSM1):c.420G>A:p.Trp140Ter	coding	Pathogenic
1	58685236	T	A	T58685236A	MYSM1	NM_001085487.3(MYSM1):c.415A>T:p.Arg139Ter	coding	Pathogenic
1	58685269	G	A	G58685269A	MYSM1	NM_001085487.3(MYSM1):c.400-18C>T	noncoding	Benign
1	58692960	T	C	T58692960C	MYSM1	NM_001085487.3(MYSM1):c.148-29A>G	noncoding	Benign
1	58695213	A	G	A58695213G	MYSM1	NM_001085487.3(MYSM1):c.69-6T>C	noncoding	Benign
1	61077220	A	G	A61077220G	NFIA	Single_allele	noncoding	Benign
1	61082989	T	G	T61082989G	NFIA	NM_001134673.4(NFIA):c.27+171T>G	noncoding	Benign
1	61088129	C	G	C61088129G	NFIA	NM_001134673.4(NFIA):c.28-20C>G	noncoding	Benign
1	61088210	G	A	G61088210A	NFIA	NM_001134673.4(NFIA):c.89G>A:p.Trp30Ter	coding	Pathogenic
1	61088221	C	T	C61088221T	NFIA	NM_001134673.4(NFIA):c.100C>T:p.Gln34Ter	coding	Pathogenic
1	61088326	C	T	C61088326T	NFIA	NM_001134673.4(NFIA):c.205C>T:p.Gln69Ter	coding	Pathogenic
1	61088371	C	T	C61088371T	NFIA	NM_001134673.4(NFIA):c.250C>T:p.Arg84Ter	coding	Pathogenic
1	61088955	G	T	G61088955T	NFIA	NM_001134673.4(NFIA):c.559+275G>T	noncoding	Benign
1	61277311	G	A	G61277311A	NFIA	NM_001134673.4(NFIA):c.560-209G>A	noncoding	Benign
1	61277488	G	A	G61277488A	NFIA	NM_001134673.4(NFIA):c.560-32G>A	noncoding	Benign
1	61277665	G	T	G61277665T	NFIA	NM_001134673.4(NFIA):c.625+80G>T	noncoding	Benign
1	61277806	G	A	G61277806A	NFIA	NM_001134673.4(NFIA):c.625+221G>A	noncoding	Benign
1	61277865	G	A	G61277865A	NFIA	NM_001134673.4(NFIA):c.625+280G>A	noncoding	Benign
1	61352266	C	G	C61352266G	NFIA	NM_001134673.4(NFIA):c.701-184C>G	noncoding	Benign
1	61352274	G	A	G61352274A	NFIA	NM_001134673.4(NFIA):c.701-176G>A	noncoding	Benign
1	61352709	C	T	C61352709T	NFIA	NM_001134673.4(NFIA):c.818+142C>T	noncoding	Benign
1	61352750	A	G	A61352750G	NFIA	NM_001134673.4(NFIA):c.818+183A>G	noncoding	Benign
1	61383590	G	T	G61383590T	NFIA	NM_001134673.4(NFIA):c.1075+225G>T	noncoding	Benign
1	61383660	T	A	T61383660A	NFIA	NM_001134673.4(NFIA):c.1075+295T>A	noncoding	Benign
1	61383677	T	A	T61383677A	NFIA	NM_001134673.4(NFIA):c.1075+312T>A	noncoding	Benign
1	61404111	G	A	G61404111A	NFIA	NM_001134673.4(NFIA):c.1083G>A:p.Pro361=	coding	Benign
1	61404141	G	A	G61404141A	NFIA	NM_001134673.4(NFIA):c.1113G>A:p.Pro371=	coding	Benign/Likely_benign
1	61406553	C	G	C61406553G	NFIA	NM_001134673.4(NFIA):c.1255-9C>G	noncoding	Benign/Likely_benign
1	61406555	C	G	C61406555G	NFIA	NM_001134673.4(NFIA):c.1255-7C>G	noncoding	Benign
1	61406639	G	A	G61406639A	NFIA	NM_001134673.4(NFIA):c.1332G>A:p.Pro444=	coding	Benign/Likely_benign
1	61406869	G	A	G61406869A	NFIA	NM_001134673.4(NFIA):c.1420+142G>A	noncoding	Benign
1	61455097	T	C	T61455097C	NFIA	NM_001134673.4(NFIA):c.1513-206T>C	noncoding	Benign
1	62238014	G	A	G62238014A	KANK4	NM_181712.5(KANK4):c.*263C>T	noncoding	Benign
1	62238305	G	A	G62238305A	KANK4	NM_181712.5(KANK4):c.2960C>T:p.Ala987Val	coding	Benign
1	62238462	A	G	A62238462G	KANK4	NM_181712.5(KANK4):c.2884-81T>C	noncoding	Benign
1	62238509	G	A	G62238509A	KANK4	NM_181712.5(KANK4):c.2884-128C>T	noncoding	Benign
1	62238628	T	G	T62238628G	KANK4	NM_181712.5(KANK4):c.2884-247A>C	noncoding	Benign
1	62247552	C	G	C62247552G	KANK4	NM_181712.5(KANK4):c.2803G>C:p.Val935Leu	coding	Benign
1	62247574	G	A	G62247574A	KANK4	NM_181712.5(KANK4):c.2781C>T:p.His927=	coding	Benign
1	62247580	C	T	C62247580T	KANK4	NM_181712.5(KANK4):c.2775G>A:p.Gln925=	coding	Benign
1	62247797	T	C	T62247797C	KANK4	NM_181712.5(KANK4):c.2683-125A>G	noncoding	Benign
1	62247798	G	A	G62247798A	KANK4	NM_181712.5(KANK4):c.2683-126C>T	noncoding	Benign
1	62263112	A	G	A62263112G	KANK4	NM_181712.5(KANK4):c.2519T>C:p.Val840Ala	coding	Benign
1	62263166	T	C	T62263166C	KANK4	NM_181712.5(KANK4):c.2465A>G:p.His822Arg	coding	Benign
1	62263189	T	C	T62263189C	KANK4	NM_181712.5(KANK4):c.2442A>G:p.Lys814=	coding	Benign
1	62263246	G	A	G62263246A	KANK4	NM_181712.5(KANK4):c.2385C>T:p.Pro795=	coding	Benign
1	62263343	G	A	G62263343A	KANK4	NM_181712.5(KANK4):c.2320-32C>T	noncoding	Benign
1	62266685	C	A	C62266685A	KANK4	NM_181712.5(KANK4):c.2319+47G>T	noncoding	Benign
1	62266749	T	C	T62266749C	KANK4	NM_181712.5(KANK4):c.2302A>G:p.Thr768Ala	coding	Benign
1	62268154	T	C	T62268154C	KANK4	NM_181712.5(KANK4):c.2231+133A>G	noncoding	Benign
1	62268267	G	A	G62268267A	KANK4	NM_181712.5(KANK4):c.2231+20C>T	noncoding	Benign
1	62268361	G	T	G62268361T	KANK4	NM_181712.5(KANK4):c.2157C>A:p.Gly719=	coding	Benign/Likely_benign
1	62268417	C	T	C62268417T	KANK4	NM_181712.5(KANK4):c.2101G>A:p.Gly701Ser	coding	Benign
1	62271169	A	G	A62271169G	KANK4	NM_181712.5(KANK4):c.2012+309T>C	noncoding	Benign
1	62271453	T	C	T62271453C	KANK4	NM_181712.5(KANK4):c.2012+25A>G	noncoding	Benign
1	62271700	A	C	A62271700C	KANK4	NM_181712.5(KANK4):c.1901-111T>G	noncoding	Benign
1	62273232	T	C	T62273232C	KANK4	NM_181712.5(KANK4):c.1872A>G:p.Pro624=	coding	Benign
1	62273289	G	A	G62273289A	KANK4	NM_181712.5(KANK4):c.1815C>T:p.Ser605=	coding	Benign
1	62273526	G	A	G62273526A	KANK4	NM_181712.5(KANK4):c.1578C>T:p.Ser526=	coding	Benign
1	62273823	C	T	C62273823T	KANK4	NM_181712.5(KANK4):c.1281G>A:p.Ser427=	coding	Benign
1	62274256	G	A	G62274256A	KANK4	NM_181712.5(KANK4):c.848C>T:p.Thr283Met	coding	Benign
1	62274393	A	G	A62274393G	KANK4	NM_181712.5(KANK4):c.711T>C:p.Gly237=	coding	Benign
1	62274592	T	C	T62274592C	KANK4	NM_181712.5(KANK4):c.512A>G:p.His171Arg	coding	Benign
1	62274774	T	C	T62274774C	KANK4	NM_181712.5(KANK4):c.330A>G:p.Pro110=	coding	Benign
1	62274777	T	C	T62274777C	KANK4	NM_181712.5(KANK4):c.327A>G:p.Ser109=	coding	Benign
1	62274954	G	A	G62274954A	KANK4	NM_181712.5(KANK4):c.150C>T:p.Asn50=	coding	Benign
1	62275080	G	A	G62275080A	KANK4	NM_181712.5(KANK4):c.24C>T:p.Asp8=	coding	Benign
1	62275258	A	G	A62275258G	KANK4	NM_181712.5(KANK4):c.17-171T>C	noncoding	Benign
1	62275377	C	A	C62275377A	KANK4	NM_181712.5(KANK4):c.17-290G>T	noncoding	Benign
1	62455475	G	A	G62455475A	DOCK7	NM_001367561.1(DOCK7):c.6381-19C>T	noncoding	Benign
1	62455751	T	C	T62455751C	DOCK7	NM_001367561.1(DOCK7):c.6381-295A>G	noncoding	Benign
1	62473963	C	T	C62473963T	DOCK7	NM_001367561.1(DOCK7):c.6212+19G>A	noncoding	Benign
1	62474426	G	A	G62474426A	DOCK7	NM_001367561.1(DOCK7):c.6106-338C>T	noncoding	Benign
1	62477593	C	T	C62477593T	DOCK7	NM_001367561.1(DOCK7):c.5634+107G>A	noncoding	Benign
1	62487512	C	T	C62487512T	DOCK7	NM_001367561.1(DOCK7):c.5494-100G>A	noncoding	Benign
1	62487702	G	A	G62487702A	DOCK7	NM_001367561.1(DOCK7):c.5494-290C>T	noncoding	Benign
1	62487710	G	A	G62487710A	DOCK7	NM_001367561.1(DOCK7):c.5494-298C>T	noncoding	Benign
1	62489300	T	C	T62489300C	DOCK7	NM_001367561.1(DOCK7):c.5362-235A>G	noncoding	Benign
1	62492987	T	C	T62492987C	DOCK7	NM_001367561.1(DOCK7):c.5218-140A>G	noncoding	Benign
1	62493054	T	G	T62493054G	DOCK7	NM_001367561.1(DOCK7):c.5218-207A>C	noncoding	Benign
1	62494433	G	A	G62494433A	DOCK7	NM_001367561.1(DOCK7):c.5059C>T:p.Arg1687Ter	coding	Pathogenic
1	62494579	T	C	T62494579C	DOCK7	NM_001367561.1(DOCK7):c.5025-112A>G	noncoding	Benign
1	62495923	G	A	G62495923A	DOCK7	NM_001367561.1(DOCK7):c.4924-242C>T	noncoding	Benign
1	62496257	T	C	T62496257C	DOCK7	NM_001367561.1(DOCK7):c.4923+82A>G	noncoding	Benign
1	62496752	C	G	C62496752G	DOCK7	NM_001367561.1(DOCK7):c.4765-255G>C	noncoding	Benign
1	62504513	T	C	T62504513C	DOCK7	NM_001367561.1(DOCK7):c.4764+117A>G	noncoding	Benign
1	62505082	T	C	T62505082C	DOCK7	NM_001367561.1(DOCK7):c.4612-300A>G	noncoding	Benign
1	62508124	A	G	A62508124G	DOCK7	NM_001367561.1(DOCK7):c.4380-66T>C	noncoding	Benign
1	62510801	T	G	T62510801G	DOCK7	NM_001367561.1(DOCK7):c.4283-128A>C	noncoding	Benign
1	62510815	A	C	A62510815C	DOCK7	NM_001367561.1(DOCK7):c.4283-142T>G	noncoding	Benign
1	62513235	A	T	A62513235T	DOCK7	NM_001367561.1(DOCK7):c.4282+209T>A	noncoding	Benign
1	62513698	G	A	G62513698A	DOCK7	NM_001367561.1(DOCK7):c.4119+18C>T	noncoding	Benign
1	62527949	T	C	T62527949C	DOCK7	NM_001367561.1(DOCK7):c.3936+202A>G	noncoding	Benign
1	62529592	C	T	C62529592T	DOCK7	NM_001367561.1(DOCK7):c.3612-146G>A	noncoding	Benign
1	62535218	T	C	T62535218C	DOCK7	NM_001367561.1(DOCK7):c.3611+275A>G	noncoding	Benign
1	62535449	A	C	A62535449C	DOCK7	NM_001367561.1(DOCK7):c.3611+44T>G	noncoding	Benign
1	62539530	C	T	C62539530T	DOCK7	NM_001367561.1(DOCK7):c.3300+15G>A	noncoding	Benign
1	62540080	C	A	C62540080A	DOCK7	NM_001367561.1(DOCK7):c.3046-188G>T	noncoding	Benign
1	62542502	C	T	C62542502T	DOCK7	NM_001367561.1(DOCK7):c.3045+106G>A	noncoding	Benign
1	62542668	A	T	A62542668T	DOCK7	NM_001367561.1(DOCK7):c.2985T>A:p.Val995=	coding	Benign
1	62544927	A	G	A62544927G	DOCK7	NM_001367561.1(DOCK7):c.2859+20T>C	noncoding	Benign
1	62544935	T	C	T62544935C	DOCK7	NM_001367561.1(DOCK7):c.2859+12A>G	noncoding	Benign
1	62545200	T	C	T62545200C	DOCK7	NM_001367561.1(DOCK7):c.2767-161A>G	noncoding	Benign
1	62552499	T	C	T62552499C	DOCK7	NM_001367561.1(DOCK7):c.2766+233A>G	noncoding	Benign
1	62552815	G	A	G62552815A	DOCK7	NM_001367561.1(DOCK7):c.2683C>T:p.Arg895Ter	coding	Pathogenic
1	62558885	G	C	G62558885C	DOCK7	NM_001367561.1(DOCK7):c.2431+104C>G	noncoding	Benign
1	62561353	C	T	C62561353T	DOCK7	NM_001367561.1(DOCK7):c.2199+264G>A	noncoding	Benign
1	62577067	A	G	A62577067G	DOCK7	NM_001367561.1(DOCK7):c.2112+195T>C	noncoding	Benign
1	62577260	A	G	A62577260G	DOCK7	NM_001367561.1(DOCK7):c.2112+2T>C	noncoding	Pathogenic
1	62578793	C	T	C62578793T	DOCK7	NM_001367561.1(DOCK7):c.2010+35G>A	noncoding	Benign
1	62579231	T	C	T62579231C	DOCK7	NM_001367561.1(DOCK7):c.1872-265A>G	noncoding	Benign
1	62582946	T	C	T62582946C	DOCK7	NM_001367561.1(DOCK7):c.1871+238A>G	noncoding	Benign
1	62583411	C	A	C62583411A	DOCK7	NM_001367561.1(DOCK7):c.1801-157G>T	noncoding	Benign
1	62583880	A	C	A62583880C	DOCK7	NM_001367561.1(DOCK7):c.1801-626T>G	noncoding	Benign
1	62583906	A	G	A62583906G	DOCK7	NM_001367561.1(DOCK7):c.1801-652T>C	noncoding	Benign
1	62583922	C	G	C62583922G	DOCK7	NM_001367561.1(DOCK7):c.1801-668G>C	noncoding	Benign
1	62584148	G	A	G62584148A	DOCK7	NM_001367561.1(DOCK7):c.1801-894C>T	coding	Benign
1	62584927	T	G	T62584927G	DOCK7	NM_001367561.1(DOCK7):c.1800+1580A>C	noncoding	Benign
1	62597506	C	T	C62597506T	DOCK7	NM_001367561.1(DOCK7):c.1683-10882G>A	coding	Benign
1	62597794	C	G	C62597794G	ANGPTL3;DOCK7	NM_014495.4(ANGPTL3):c.228C>G:p.Asn76Lys	coding	Benign/Likely_benign
1	62598159	T	C	T62598159C	DOCK7	NM_001367561.1(DOCK7):c.1683-11535A>G	noncoding	Benign
1	62598792	G	T	G62598792T	ANGPTL3	NM_014495.4(ANGPTL3):c.592G>T:p.Glu198Ter	coding	Pathogenic
1	62602628	G	A	G62602628A	DOCK7	NM_001367561.1(DOCK7):c.1683-16004C>T	noncoding	Benign
1	62604040	T	C	T62604040C	ANGPTL3;DOCK7	NM_014495.4(ANGPTL3):c.1003T>C:p.Leu335=	coding	Benign
1	62604251	A	G	A62604251G	ANGPTL3	NM_014495.4(ANGPTL3):c.1198+16A>G	noncoding	Benign
1	62619918	G	A	G62619918A	DOCK7	NM_001367561.1(DOCK7):c.1501C>T:p.Arg501Ter	coding	Pathogenic
1	62625187	C	T	C62625187T	DOCK7	NM_001367561.1(DOCK7):c.1425+72G>A	noncoding	Benign
1	62625351	G	A	G62625351A	DOCK7	NM_001367561.1(DOCK7):c.1333C>T:p.Arg445Ter	coding	Pathogenic/Likely_pathogenic
1	62633269	A	G	A62633269G	DOCK7	NM_001367561.1(DOCK7):c.1116+229T>C	noncoding	Benign
1	62633352	T	C	T62633352C	DOCK7	NM_001367561.1(DOCK7):c.1116+146A>G	noncoding	Benign
1	62636334	T	C	T62636334C	DOCK7	NM_001367561.1(DOCK7):c.885+203A>G	noncoding	Benign
1	62636870	T	G	T62636870G	DOCK7	NM_001367561.1(DOCK7):c.819-267A>C	noncoding	Benign
1	62647840	C	A	C62647840A	DOCK7	NM_001367561.1(DOCK7):c.733-64G>T	noncoding	Benign
1	62648018	T	C	T62648018C	DOCK7	NM_001367561.1(DOCK7):c.732+88A>G	noncoding	Benign
1	62648048	T	C	T62648048C	DOCK7	NM_001367561.1(DOCK7):c.732+58A>G	noncoding	Benign
1	62648398	A	C	A62648398C	DOCK7	NM_001367561.1(DOCK7):c.519+17T>G	noncoding	Benign
1	62653585	T	C	T62653585C	DOCK7	NM_001367561.1(DOCK7):c.389+140A>G	noncoding	Benign
1	62654382	T	C	T62654382C	DOCK7	NM_001367561.1(DOCK7):c.145-223A>G	noncoding	Benign
1	62663411	T	C	T62663411C	DOCK7	NM_001367561.1(DOCK7):c.39-281A>G	noncoding	Benign
1	62688195	C	G	C62688195G	DOCK7	NM_001367561.1(DOCK7):c.38+32G>C	noncoding	Benign
1	62688215	C	G	C62688215G	DOCK7	NM_001367561.1(DOCK7):c.38+12G>C	noncoding	Benign
1	62688282	C	T	C62688282T	DOCK7	NM_001367561.1(DOCK7):c.-18G>A	noncoding	Benign
1	63367765	C	G	C63367765G	ALG6	NM_013339.4(ALG6):c.-208+78C>G	noncoding	Benign
1	63367779	G	T	G63367779T	ALG6	NM_013339.4(ALG6):c.-208+92G>T	noncoding	Benign
1	63367903	G	T	G63367903T	ALG6	NM_013339.4(ALG6):c.-208+216G>T	noncoding	Benign
1	63371135	A	G	A63371135G	ALG6	NM_013339.4(ALG6):c.82+76A>G	noncoding	Benign
1	63371148	T	G	T63371148G	ALG6	NM_013339.4(ALG6):c.82+89T>G	noncoding	Benign
1	63396551	C	T	C63396551T	ALG6	NM_013339.4(ALG6):c.121C>T:p.Gln41Ter	coding	Pathogenic
1	63402237	C	G	C63402237G	ALG6	NM_013339.4(ALG6):c.168-17C>G	noncoding	Benign
1	63405969	T	C	T63405969C	ALG6	NM_013339.4(ALG6):c.347-348T>C	noncoding	Benign
1	63406087	T	C	T63406087C	ALG6	NM_013339.4(ALG6):c.347-230T>C	noncoding	Benign
1	63406210	A	G	A63406210G	ALG6	NM_013339.4(ALG6):c.347-107A>G	noncoding	Benign
1	63406379	G	T	G63406379T	ALG6	NM_013339.4(ALG6):c.409G>T:p.Glu137Ter	coding	Pathogenic
1	63406688	T	C	T63406688C	ALG6	NM_013339.4(ALG6):c.429+289T>C	noncoding	Benign
1	63406929	T	C	T63406929C	ALG6	NM_013339.4(ALG6):c.430-133T>C	noncoding	Benign
1	63407200	A	G	A63407200G	ALG6	NM_013339.4(ALG6):c.494+74A>G	noncoding	Benign
1	63411008	G	A	G63411008A	ALG6	NM_013339.4(ALG6):c.495-138G>A	noncoding	Benign
1	63411015	T	C	T63411015C	ALG6	NM_013339.4(ALG6):c.495-131T>C	noncoding	Benign
1	63411459	G	T	G63411459T	ALG6	NM_013339.4(ALG6):c.680+128G>T	noncoding	Benign
1	63411743	C	T	C63411743T	ALG6	NM_013339.4(ALG6):c.681-183C>T	noncoding	Benign
1	63413769	A	G	A63413769G	ALG6	NM_013339.4(ALG6):c.817-292A>G	noncoding	Benign
1	63413788	G	A	G63413788A	ALG6	NM_013339.4(ALG6):c.817-273G>A	noncoding	Benign
1	63415843	A	T	A63415843T	ALG6	NM_013339.4(ALG6):c.903-30A>T	noncoding	Benign
1	63415860	A	G	A63415860G	ALG6	NM_013339.4(ALG6):c.903-13A>G	noncoding	Benign
1	63415890	T	A	T63415890A	ALG6	NM_013339.4(ALG6):c.920T>A:p.Leu307Ter	coding	Pathogenic
1	63415969	A	G	A63415969G	ALG6	NM_013339.4(ALG6):c.987+12A>G	noncoding	Benign/Likely_benign
1	63419551	T	G	T63419551G	ALG6	NM_013339.4(ALG6):c.1058+111T>G	noncoding	Benign
1	63428488	T	G	T63428488G	ALG6	NM_013339.4(ALG6):c.1059-245T>G	noncoding	Benign
1	63428887	T	C	T63428887C	ALG6	NM_013339.4(ALG6):c.1128-41T>C	noncoding	Benign
1	63429127	G	T	G63429127T	ALG6	NM_013339.4(ALG6):c.1326+1G>T	coding	Pathogenic
1	63436526	G	A	G63436526A	ALG6	NM_013339.4(ALG6):c.1327-297G>A	noncoding	Benign
1	63436760	A	G	A63436760G	ALG6	NM_013339.4(ALG6):c.1327-63A>G	noncoding	Benign
1	63593801	C	T	C63593801T	PGM1	NM_002633.3(PGM1):c.246+67C>T	noncoding	Benign
1	63594192	T	A	T63594192A	PGM1	NM_002633.3(PGM1):c.246+458T>A	noncoding	Benign
1	63594249	T	C	T63594249C	PGM1	NM_002633.3(PGM1):c.246+515T>C	noncoding	Benign
1	63622989	G	A	G63622989A	PGM1	NM_002633.3(PGM1):c.247-6436G>A	noncoding	Benign
1	63623761	G	A	G63623761A	PGM1	NM_002633.3(PGM1):c.247-5664G>A	coding	Benign/Likely_benign
1	63629822	T	C	T63629822C	PGM1	NM_002633.3(PGM1):c.410-120T>C	noncoding	Benign
1	63630165	G	C	G63630165C	PGM1	NM_002633.3(PGM1):c.556+77G>C	noncoding	Benign
1	63631685	T	G	T63631685G	PGM1	NM_002633.3(PGM1):c.585T>G:p.Tyr195Ter	coding	Pathogenic
1	63634806	C	T	C63634806T	PGM1	NM_002633.3(PGM1):c.683-23C>T	noncoding	Benign
1	63635210	C	T	C63635210T	PGM1	NM_002633.3(PGM1):c.873+191C>T	noncoding	Benign
1	63635213	A	G	A63635213G	PGM1	NM_002633.3(PGM1):c.873+194A>G	noncoding	Benign
1	63636387	C	T	C63636387T	PGM1	NM_002633.3(PGM1):c.1027C>T:p.Arg343Trp	coding	Benign
1	63638428	A	G	A63638428G	PGM1	NM_002633.3(PGM1):c.1029-257A>G	noncoding	Benign
1	63638636	C	T	C63638636T	PGM1	NM_002633.3(PGM1):c.1029-49C>T	noncoding	Benign
1	63639036	G	A	G63639036A	PGM1	NM_002633.3(PGM1):c.1144+236G>A	noncoding	Benign
1	63648758	G	T	G63648758T	PGM1	NM_002633.3(PGM1):c.1280+106G>T	noncoding	Benign
1	63652067	G	A	G63652067A	PGM1	NM_002633.3(PGM1):c.1464+215G>A	noncoding	Benign
1	63652067	G	C	G63652067C	PGM1	NM_002633.3(PGM1):c.1464+215G>C	noncoding	Benign
1	63654106	T	C	T63654106C	PGM1	NM_002633.3(PGM1):c.1465-226T>C	noncoding	Benign
1	63654226	A	G	A63654226G	PGM1	NM_002633.3(PGM1):c.1465-106A>G	noncoding	Benign
1	63654230	A	T	A63654230T	PGM1	NM_002633.3(PGM1):c.1465-102A>T	noncoding	Benign
1	63654362	C	T	C63654362T	PGM1	NM_002633.3(PGM1):c.1495C>T:p.Arg499Ter	coding	Pathogenic/Likely_pathogenic
1	63654511	G	A	G63654511A	PGM1	NM_002633.3(PGM1):c.1599+45G>A	noncoding	Benign
1	63654687	T	C	T63654687C	PGM1	NM_002633.3(PGM1):c.1599+221T>C	noncoding	Benign
1	63659080	C	T	C63659080T	PGM1	NM_002633.3(PGM1):c.1600-506C>T	noncoding	Benign
1	63659153	A	T	A63659153T	PGM1	NM_002633.3(PGM1):c.1600-433A>T	noncoding	Benign
1	63659159	G	A	G63659159A	PGM1	NM_002633.3(PGM1):c.1600-427G>A	noncoding	Benign
1	63659401	T	C	T63659401C	PGM1	NM_002633.3(PGM1):c.1600-185T>C	noncoding	Benign
1	63659477	T	G	T63659477G	PGM1	NM_002633.3(PGM1):c.1600-109T>G	noncoding	Benign
1	63659712	G	A	G63659712A	PGM1	NM_002633.3(PGM1):c.*37G>A	noncoding	Benign/Likely_benign
1	63659768	A	C	A63659768C	PGM1	NM_002633.3(PGM1):c.*93A>C	noncoding	Benign/Likely_benign
1	63659873	C	T	C63659873T	PGM1	NM_002633.3(PGM1):c.*198C>T	noncoding	Benign/Likely_benign
1	63774394	G	A	G63774394A	ROR1	NM_005012.4(ROR1):c.-24G>A	noncoding	Benign
1	63774569	C	T	C63774569T	ROR1	NM_005012.4(ROR1):c.91+61C>T	noncoding	Benign
1	64009132	C	T	C64009132T	ROR1	NM_005012.4(ROR1):c.92-173C>T	noncoding	Benign
1	64009249	A	G	A64009249G	ROR1	NM_005012.4(ROR1):c.92-56A>G	noncoding	Benign
1	64009387	G	T	G64009387T	ROR1	NM_005012.4(ROR1):c.163+11G>T	noncoding	Benign
1	64049683	G	T	G64049683T	ROR1	NM_005012.4(ROR1):c.164-8G>T	noncoding	Benign
1	64049707	C	T	C64049707T	ROR1	NM_005012.4(ROR1):c.180C>T:p.Leu60=	coding	Benign
1	64049734	G	A	G64049734A	ROR1	NM_005012.4(ROR1):c.207G>A:p.Thr69=	coding	Benign
1	64137512	G	T	G64137512T	ROR1	NM_005012.4(ROR1):c.610+16G>T	noncoding	Benign
1	64137548	G	A	G64137548A	ROR1	NM_005012.4(ROR1):c.610+52G>A	noncoding	Benign
1	64142484	A	G	A64142484G	ROR1	NM_005012.4(ROR1):c.1008A>G:p.Pro336=	coding	Benign/Likely_benign
1	64142646	G	T	G64142646T	ROR1	NM_005012.4(ROR1):c.1170G>T:p.Ala390=	coding	Benign
1	64142740	G	A	G64142740A	ROR1	NM_005012.4(ROR1):c.1174+90G>A	coding	Benign
1	64142880	A	G	A64142880G	ROR1	NM_005012.4(ROR1):c.1174+230A>G	coding	Benign
1	64158929	G	A	G64158929A	ROR1	NM_005012.4(ROR1):c.1175-52G>A	noncoding	Benign
1	64159159	A	G	A64159159G	ROR1	NM_005012.4(ROR1):c.1353A>G:p.Val451=	coding	Benign
1	64177594	C	T	C64177594T	ROR1	NM_005012.4(ROR1):c.1553C>T:p.Thr518Met	coding	Benign
1	64178150	G	A	G64178150A	ROR1	NM_005012.4(ROR1):c.2109G>A:p.Glu703=	coding	Benign
1	64178922	A	C	A64178922C	ROR1	NM_005012.4(ROR1):c.*67A>C	noncoding	Benign
1	64836082	G	T	G64836082T	JAK1	NM_002227.4(JAK1):c.3258+16C>A	noncoding	Benign
1	64837976	C	T	C64837976T	JAK1	NM_002227.4(JAK1):c.3096G>A:p.Lys1032=	coding	Benign
1	64844073	C	T	C64844073T	JAK1	NM_002227.4(JAK1):c.2394G>A:p.Thr798=	coding	Benign
1	64844806	T	C	T64844806C	JAK1	NM_002227.4(JAK1):c.2199A>G:p.Pro733=	coding	Benign
1	64845531	G	C	G64845531C	JAK1	NM_002227.4(JAK1):c.2097C>G:p.Ala699=	coding	Benign
1	64845579	G	A	G64845579A	JAK1	NM_002227.4(JAK1):c.2049C>T:p.Ser683=	coding	Benign
1	64846659	G	A	G64846659A	JAK1	NM_002227.4(JAK1):c.1977C>T:p.Arg659=	coding	Benign
1	64847645	G	C	G64847645C	JAK1	NM_002227.4(JAK1):c.1786C>G:p.His596Asp	coding	Pathogenic
1	64847691	G	A	G64847691A	JAK1	NM_002227.4(JAK1):c.1756-16C>T	noncoding	Benign
1	64855567	G	A	G64855567A	JAK1	NM_002227.4(JAK1):c.1590C>T:p.Ile530=	coding	Benign
1	64855705	G	A	G64855705A	JAK1	NM_002227.4(JAK1):c.1459-7C>T	noncoding	Benign
1	64857786	G	C	G64857786C	JAK1	NM_002227.4(JAK1):c.1335-7C>G	noncoding	Benign
1	64857793	T	C	T64857793C	JAK1	NM_002227.4(JAK1):c.1335-14A>G	noncoding	Benign
1	64864976	A	G	A64864976G	JAK1	NM_002227.4(JAK1):c.991-4T>C	noncoding	Benign
1	64866944	C	T	C64866944T	JAK1	NM_002227.4(JAK1):c.912G>A:p.Ser304=	coding	Benign
1	64869379	A	G	A64869379G	JAK1	NM_002227.4(JAK1):c.579T>C:p.Ala193=	coding	Benign
1	64869412	T	C	T64869412C	JAK1	NM_002227.4(JAK1):c.546A>G:p.Gly182=	coding	Benign
1	64873439	G	A	G64873439A	JAK1	NM_002227.4(JAK1):c.414C>T:p.Tyr138=	coding	Benign
1	64879066	G	A	G64879066A	JAK1	NM_002227.4(JAK1):c.288C>T:p.Thr96=	coding	Benign
1	64883298	T	C	T64883298C	JAK1	NM_002227.4(JAK1):c.184A>G:p.Ile62Val	coding	Benign
1	65264541	G	C	G65264541C	DNAJC6	Single_allele	noncoding	Benign
1	65265168	C	T	C65265168T	DNAJC6	NM_014787.4(DNAJC6):c.22+236C>T	noncoding	Benign
1	65265179	A	G	A65265179G	DNAJC6	NM_014787.4(DNAJC6):c.22+247A>G	noncoding	Benign
1	65309229	C	T	C65309229T	DNAJC6	NM_014787.4(DNAJC6):c.22+44297C>T	noncoding	Benign
1	65309504	G	C	G65309504C	DNAJC6	NM_014787.4(DNAJC6):c.22+44572G>C	noncoding	Benign
1	65310115	G	A	G65310115A	DNAJC6	NM_001256864.2(DNAJC6):c.193+177G>A	noncoding	Benign
1	65310134	C	T	C65310134T	DNAJC6	NM_001256864.2(DNAJC6):c.193+196C>T	noncoding	Benign
1	65364614	G	T	G65364614T	DNAJC6	NM_001256864.2(DNAJC6):c.194-21G>T	noncoding	Benign
1	65364616	T	G	T65364616G	DNAJC6	NM_001256864.2(DNAJC6):c.194-19T>G	noncoding	Benign
1	65364617	T	G	T65364617G	DNAJC6	NM_001256864.2(DNAJC6):c.194-18T>G	noncoding	Benign/Likely_benign
1	65364618	T	G	T65364618G	DNAJC6	NM_001256864.2(DNAJC6):c.194-17T>G	noncoding	Benign
1	65364925	T	C	T65364925C	DNAJC6	NM_001256864.2(DNAJC6):c.344+140T>C	noncoding	Benign
1	65366331	A	G	A65366331G	DNAJC6	NM_001256864.2(DNAJC6):c.543+135A>G	noncoding	Benign
1	65379280	A	G	A65379280G	DNAJC6	NM_001256864.2(DNAJC6):c.544-122A>G	noncoding	Benign
1	65379359	A	T	A65379359T	DNAJC6	NM_001256864.2(DNAJC6):c.544-43A>T	noncoding	Benign
1	65379393	C	T	C65379393T	DNAJC6	NM_001256864.2(DNAJC6):c.544-9C>T	noncoding	Benign
1	65379763	A	C	A65379763C	DNAJC6	NM_001256864.2(DNAJC6):c.666+239A>C	noncoding	Benign
1	65386076	G	A	G65386076A	DNAJC6	NM_001256864.2(DNAJC6):c.995+170G>A	noncoding	Benign
1	65386627	A	G	A65386627G	DNAJC6	NM_001256864.2(DNAJC6):c.996-185A>G	noncoding	Benign
1	65387187	A	G	A65387187G	DNAJC6	NM_001256864.2(DNAJC6):c.1113+258A>G	noncoding	Benign
1	65392405	T	C	T65392405C	DNAJC6	NM_001256864.2(DNAJC6):c.1469-26T>C	noncoding	Benign
1	65392462	G	A	G65392462A	DNAJC6	NM_001256864.2(DNAJC6):c.1500G>A:p.Glu500=	coding	Benign
1	65392468	C	T	C65392468T	DNAJC6	NM_001256864.2(DNAJC6):c.1506C>T:p.His502=	coding	Benign
1	65394977	T	C	T65394977C	DNAJC6	NM_001256864.2(DNAJC6):c.1983T>C:p.Ser661=	coding	Benign
1	65395004	A	C	A65395004C	DNAJC6	NM_001256864.2(DNAJC6):c.2010A>C:p.Pro670=	coding	Benign
1	65395191	T	G	T65395191G	DNAJC6	NM_001256864.2(DNAJC6):c.2038+159T>G	noncoding	Benign
1	65398515	A	G	A65398515G	DNAJC6	NM_001256864.2(DNAJC6):c.2039-298A>G	noncoding	Benign
1	65398537	G	T	G65398537T	DNAJC6	NM_001256864.2(DNAJC6):c.2039-276G>T	noncoding	Benign
1	65401708	C	G	C65401708G	DNAJC6	NM_001256864.2(DNAJC6):c.2108-53C>G	noncoding	Benign
1	65401836	G	A	G65401836A	DNAJC6	NM_001256864.2(DNAJC6):c.2183G>A:p.Ser728Asn	coding	Benign
1	65402032	C	T	C65402032T	DNAJC6	NM_001256864.2(DNAJC6):c.2227+152C>T	noncoding	Benign
1	65402191	G	C	G65402191C	DNAJC6	NM_001256864.2(DNAJC6):c.2227+311G>C	noncoding	Benign
1	65405973	C	T	C65405973T	DNAJC6	NM_001256864.2(DNAJC6):c.2331C>T:p.Gly777=	coding	Benign
1	65406328	A	G	A65406328G	DNAJC6	NM_001256864.2(DNAJC6):c.2491+195A>G	noncoding	Benign
1	65406336	A	G	A65406336G	DNAJC6	NM_001256864.2(DNAJC6):c.2491+203A>G	noncoding	Benign
1	65408354	T	C	T65408354C	DNAJC6	NM_001256864.2(DNAJC6):c.2492-287T>C	noncoding	Benign
1	65408464	T	A	T65408464A	DNAJC6	NM_001256864.2(DNAJC6):c.2492-177T>A	noncoding	Benign
1	65425500	T	A	T65425500A	LEPR	NM_002303.6(LEPR):c.-21+122T>A	noncoding	Benign
1	65565380	G	A	G65565380A	LEPR	NM_002303.6(LEPR):c.-20-166G>A	noncoding	Benign
1	65565845	T	A	T65565845A	LEPR	NM_002303.6(LEPR):c.40+240T>A	noncoding	Benign
1	65570345	A	G	A65570345G	LEPR	NM_002303.6(LEPR):c.41-128A>G	noncoding	Benign
1	65572301	T	G	T65572301G	LEPR	NM_002303.6(LEPR):c.371-25T>G	noncoding	Benign
1	65593118	A	G	A65593118G	LEPR	NM_002303.6(LEPR):c.703+253A>G	noncoding	Benign
1	65596642	A	G	A65596642G	LEPR	NM_002303.6(LEPR):c.849+49A>G	noncoding	Benign
1	65598430	T	C	T65598430C	LEPR	NM_002303.6(LEPR):c.850-230T>C	noncoding	Benign
1	65598610	A	C	A65598610C	LEPR	NM_002303.6(LEPR):c.850-50A>C	noncoding	Benign
1	65599027	C	T	C65599027T	LEPR	NM_002303.6(LEPR):c.994+223C>T	noncoding	Benign
1	65601713	T	C	T65601713C	LEPR	NM_002303.6(LEPR):c.1285+31T>C	noncoding	Benign
1	65605399	T	A	T65605399A	LEPR	NM_002303.6(LEPR):c.1603+162T>A	noncoding	Benign
1	65608483	A	G	A65608483G	LEPR	NM_002303.6(LEPR):c.1604-270A>G	noncoding	Benign
1	65609208	A	G	A65609208G	LEPR	NM_002303.6(LEPR):c.1752+307A>G	noncoding	Benign
1	65609903	A	G	A65609903G	LEPR	NM_002303.6(LEPR):c.1753-44A>G	noncoding	Benign
1	65610029	G	A	G65610029A	LEPR	NM_002303.6(LEPR):c.1835G>A:p.Arg612His	coding	Pathogenic/Likely_pathogenic
1	65615981	A	G	A65615981G	LEPR	NM_002303.6(LEPR):c.1996-27A>G	noncoding	Benign
1	65616401	A	G	A65616401G	LEPR	NM_002303.6(LEPR):c.2212+177A>G	noncoding	Benign
1	65616452	A	G	A65616452G	LEPR	NM_002303.6(LEPR):c.2212+228A>G	noncoding	Benign
1	65617854	G	A	G65617854A	LEPR	NM_002303.6(LEPR):c.2213-110G>A	noncoding	Benign
1	65619750	A	G	A65619750G	LEPR	NM_002303.6(LEPR):c.2396-178A>G	noncoding	Benign
1	65619842	T	A	T65619842A	LEPR	NM_002303.6(LEPR):c.2396-86T>A	noncoding	Benign
1	65619891	T	A	T65619891A	LEPR	NM_002303.6(LEPR):c.2396-37T>A	noncoding	Benign
1	65621618	G	C	G65621618C	LEPR	NM_002303.6(LEPR):c.2597+160G>C	noncoding	Benign
1	65622687	A	G	A65622687G	LEPR	NM_002303.6(LEPR):c.2598-219A>G	noncoding	Benign
1	65623018	C	A	C65623018A	LEPR	NM_002303.6(LEPR):c.2673+37C>A	noncoding	Benign
1	65623268	A	G	A65623268G	LEPR	NM_002303.6(LEPR):c.2673+287A>G	noncoding	Benign
1	65625816	T	C	T65625816C	LEPR	NM_002303.6(LEPR):c.2673+2835T>C	noncoding	Benign
1	65626334	T	A	T65626334A	LEPR	NM_002303.6(LEPR):c.2673+3353T>A	noncoding	Benign
1	65632970	T	C	T65632970C	LEPR	NM_002303.6(LEPR):c.2674-3221T>C	noncoding	Benign
1	65633062	C	A	C65633062A	LEPR	NM_002303.6(LEPR):c.2674-3129C>A	noncoding	Benign
1	65633330	C	A	C65633330A	LEPR	NM_002303.6(LEPR):c.2674-2861C>A	coding	Benign
1	67009197	T	C	T67009197C	SLC35D1	NM_015139.3(SLC35D1):c.877-30A>G	noncoding	Benign
1	67009294	C	T	C67009294T	SLC35D1	NM_015139.3(SLC35D1):c.877-127G>A	noncoding	Benign
1	67021391	T	C	T67021391C	SLC35D1	NM_015139.3(SLC35D1):c.797+144A>G	noncoding	Benign
1	67021426	T	C	T67021426C	SLC35D1	NM_015139.3(SLC35D1):c.797+109A>G	noncoding	Benign
1	67021436	C	A	C67021436A	SLC35D1	NM_015139.3(SLC35D1):c.797+99G>T	noncoding	Benign
1	67021519	G	A	G67021519A	SLC35D1	NM_015139.3(SLC35D1):c.797+16C>T	noncoding	Benign
1	67021693	C	A	C67021693A	SLC35D1	NM_015139.3(SLC35D1):c.730-91G>T	noncoding	Benign
1	67021694	A	G	A67021694G	SLC35D1	NM_015139.3(SLC35D1):c.730-92T>C	noncoding	Benign
1	67021706	G	C	G67021706C	SLC35D1	NM_015139.3(SLC35D1):c.730-104C>G	noncoding	Benign
1	67021756	C	T	C67021756T	SLC35D1	NM_015139.3(SLC35D1):c.730-154G>A	noncoding	Benign
1	67042051	T	A	T67042051A	SLC35D1	NM_015139.3(SLC35D1):c.729+185A>T	noncoding	Benign
1	67042231	C	G	C67042231G	SLC35D1	NM_015139.3(SLC35D1):c.729+5G>C	noncoding	Benign
1	67042384	A	G	A67042384G	SLC35D1	NM_015139.3(SLC35D1):c.637-56T>C	noncoding	Benign
1	67047012	A	G	A67047012G	SLC35D1	NM_015139.3(SLC35D1):c.636+253T>C	noncoding	Benign
1	67047220	G	T	G67047220T	SLC35D1	NM_015139.3(SLC35D1):c.636+45C>A	noncoding	Benign
1	67047237	A	C	A67047237C	SLC35D1	NM_015139.3(SLC35D1):c.636+28T>G	noncoding	Benign
1	67047718	G	C	G67047718C	SLC35D1	NM_015139.3(SLC35D1):c.534-351C>G	noncoding	Benign
1	67049545	G	A	G67049545A	SLC35D1	NM_015139.3(SLC35D1):c.533+237C>T	noncoding	Benign
1	67049626	C	T	C67049626T	SLC35D1	NM_015139.3(SLC35D1):c.533+156G>A	noncoding	Benign
1	67050633	T	A	T67050633A	SLC35D1	NM_015139.3(SLC35D1):c.393-129A>T	noncoding	Benign
1	67052565	T	G	T67052565G	SLC35D1	NM_015139.3(SLC35D1):c.324+206A>C	noncoding	Benign
1	67052737	T	A	T67052737A	SLC35D1	NM_015139.3(SLC35D1):c.324+34A>T	noncoding	Benign
1	67052851	C	T	C67052851T	SLC35D1	NM_015139.3(SLC35D1):c.244G>A:p.Ala82Thr	coding	Benign
1	67053305	C	A	C67053305A	SLC35D1	NM_015139.3(SLC35D1):c.204-316G>T	noncoding	Benign
1	67053650	C	G	C67053650G	SLC35D1	NM_015139.3(SLC35D1):c.203+161G>C	noncoding	Benign
1	67053739	G	A	G67053739A	SLC35D1	NM_015139.3(SLC35D1):c.203+72C>T	noncoding	Benign
1	67053752	C	A	C67053752A	SLC35D1	NM_015139.3(SLC35D1):c.203+59G>T	noncoding	Benign
1	67053799	C	A	C67053799A	SLC35D1	NM_015139.3(SLC35D1):c.203+12G>T	noncoding	Benign
1	67054362	C	A	C67054362A	SLC35D1	Single_allele	noncoding	Benign
1	67054400	C	T	C67054400T	SLC35D1	Single_allele	noncoding	Benign
1	67054457	T	G	T67054457G	SLC35D1	Single_allele	noncoding	Benign
1	67168129	G	T	G67168129T	IL23R	NM_144701.3(IL23R):c.9G>T:p.Gln3His	coding	Benign
1	67169528	G	A	G67169528A	IL23R	NM_144701.3(IL23R):c.257G>A:p.Arg86Gln	coding	Benign
1	67169658	T	C	T67169658C	IL23R	NM_144701.3(IL23R):c.367+20T>C	noncoding	Benign
1	67182913	G	A	G67182913A	IL23R	NM_144701.3(IL23R):c.445G>A:p.Gly149Arg	coding	Benign
1	67182976	C	T	C67182976T	IL23R	NM_144701.3(IL23R):c.491+17C>T	noncoding	Benign
1	67206920	T	C	T67206920C	IL23R	NM_144701.3(IL23R):c.663T>C:p.Ser221=	coding	Benign
1	67206926	C	T	C67206926T	IL23R	NM_144701.3(IL23R):c.669C>T:p.Ala223=	coding	Benign
1	67219618	A	G	A67219618G	IL23R	NM_144701.3(IL23R):c.843A>G:p.Glu281=	coding	Benign
1	67219704	T	C	T67219704C	IL23R	NM_144701.3(IL23R):c.929T>C:p.Leu310Pro	coding	Benign
1	67240217	G	A	G67240217A	IL23R	NM_144701.3(IL23R):c.1084G>A:p.Val362Ile	coding	Benign
1	67240275	G	A	G67240275A	IL23R	NM_144701.3(IL23R):c.1142G>A:p.Arg381Gln	coding	Benign
1	67240301	C	T	C67240301T	IL23R	NM_144701.3(IL23R):c.1148+20C>T	noncoding	Benign
1	67321603	T	C	T67321603C	IL12RB2	NM_001374259.2(IL12RB2):c.78T>C:p.Asp26=	coding	Benign
1	67326864	G	A	G67326864A	IL12RB2	NM_001374259.2(IL12RB2):c.479+15G>A	noncoding	Benign
1	67329636	T	C	T67329636C	IL12RB2	NM_001374259.2(IL12RB2):c.714T>C:p.Ser238=	coding	Benign
1	67329743	G	C	G67329743C	IL12RB2	NM_001374259.2(IL12RB2):c.807+14G>C	noncoding	Benign
1	67338612	C	T	C67338612T	IL12RB2	NM_001374259.2(IL12RB2):c.959-12C>T	noncoding	Benign
1	67367818	G	A	G67367818A	IL12RB2	NM_001374259.2(IL12RB2):c.1259-7G>A	noncoding	Benign
1	67367844	G	C	G67367844C	IL12RB2	NM_001374259.2(IL12RB2):c.1278G>C:p.Gln426His	coding	Benign
1	67367960	G	A	G67367960A	IL12RB2	NM_001374259.2(IL12RB2):c.1394G>A:p.Gly465Asp	coding	Benign
1	67372546	G	A	G67372546A	IL12RB2	NM_001374259.2(IL12RB2):c.1558+12G>A	noncoding	Benign
1	67380044	G	C	G67380044C	IL12RB2	NM_001374259.2(IL12RB2):c.1776G>C:p.Val592=	coding	Benign
1	67386652	G	A	G67386652A	IL12RB2	NM_001374259.2(IL12RB2):c.1929G>A:p.Thr643=	coding	Benign
1	67395591	C	T	C67395591T	IL12RB2	NM_001374259.2(IL12RB2):c.2091C>T:p.Pro697=	coding	Benign
1	67395667	T	A	T67395667A	IL12RB2	NM_001374259.2(IL12RB2):c.2167T>A:p.Cys723Ser	coding	Benign
1	67395837	C	A	C67395837A	IL12RB2	NM_001374259.2(IL12RB2):c.2337C>A:p.Pro779=	coding	Benign
1	67395909	C	T	C67395909T	IL12RB2	NM_001374259.2(IL12RB2):c.2409C>T:p.Ser803=	coding	Benign/Likely_benign
1	68137863	T	C	T68137863C	WLS	NM_024911.7(WLS):c.1433A>G:p.Tyr478Cys	coding	Pathogenic
1	68145972	T	C	T68145972C	WLS	NM_024911.7(WLS):c.1175A>G:p.Tyr392Cys	coding	Pathogenic
1	68429835	G	A	G68429835A	RPE65	NM_000329.3(RPE65):c.1543C>T:p.Arg515Trp	coding	Pathogenic
1	68429928	C	T	C68429928T	RPE65	NM_000329.3(RPE65):c.1451-1G>A	coding	Pathogenic/Likely_pathogenic
1	68430961	G	A	G68430961A	RPE65	NM_000329.3(RPE65):c.1450+104C>T	noncoding	Benign
1	68431085	T	C	T68431085C	RPE65	NM_000329.3(RPE65):c.1430A>G:p.Asp477Gly	coding	Pathogenic
1	68431106	G	A	G68431106A	RPE65	NM_000329.3(RPE65):c.1409C>T:p.Pro470Leu	coding	Pathogenic
1	68431116	G	C	G68431116C	RPE65	NM_000329.3(RPE65):c.1399C>G:p.Pro467Ala	coding	Pathogenic
1	68431215	A	G	A68431215G	RPE65	NM_000329.3(RPE65):c.1339-39T>C	noncoding	Benign
1	68431485	G	T	G68431485T	RPE65	NM_000329.3(RPE65):c.1229C>A:p.Ser410Ter	coding	Pathogenic
1	68435602	T	G	T68435602G	RPE65	NM_000329.3(RPE65):c.1128+2585A>C	noncoding	Benign
1	68438229	T	C	T68438229C	RPE65	NM_000329.3(RPE65):c.1086A>G:p.Gln362=	coding	Benign
1	68438287	A	C	A68438287C	RPE65	NM_000329.3(RPE65):c.1028T>G:p.Leu343Ter	coding	Pathogenic
1	68438583	T	C	T68438583C	RPE65	NM_000329.3(RPE65):c.999-267A>G	noncoding	Benign
1	68438672	G	T	G68438672T	RPE65	NM_000329.3(RPE65):c.998+270C>A	noncoding	Benign
1	68438735	A	G	A68438735G	RPE65	NM_000329.3(RPE65):c.998+207T>C	noncoding	Benign
1	68438830	A	G	A68438830G	RPE65	NM_000329.3(RPE65):c.998+112T>C	noncoding	Benign
1	68438948	C	T	C68438948T	RPE65	NM_000329.3(RPE65):c.992G>A:p.Trp331Ter	coding	Pathogenic
1	68439002	T	C	T68439002C	RPE65	NM_000329.3(RPE65):c.938A>G:p.His313Arg	coding	Pathogenic
1	68439028	G	C	G68439028C	RPE65	NM_000329.3(RPE65):c.912C>G:p.Tyr304Ter	coding	Pathogenic
1	68439081	C	A	C68439081A	RPE65	NM_000329.3(RPE65):c.859G>T:p.Val287Phe	coding	Pathogenic
1	68439325	T	A	T68439325A	RPE65	NM_000329.3(RPE65):c.726-2A>T	noncoding	Pathogenic
1	68439559	A	G	A68439559G	RPE65	NM_000329.3(RPE65):c.725+2T>C	noncoding	Pathogenic
1	68439559	A	T	A68439559T	RPE65	NM_000329.3(RPE65):c.725+2T>A	noncoding	Pathogenic
1	68439560	C	T	C68439560T	RPE65	NM_000329.3(RPE65):c.725+1G>A	noncoding	Pathogenic
1	68439593	G	T	G68439593T	RPE65	NM_000329.3(RPE65):c.693C>A:p.Cys231Ter	coding	Pathogenic
1	68439644	T	G	T68439644G	RPE65	NM_000329.3(RPE65):c.644-2A>C	noncoding	Pathogenic
1	68440859	G	A	G68440859A	RPE65	NM_000329.3(RPE65):c.637C>T:p.Gln213Ter	coding	Pathogenic
1	68440887	G	A	G68440887A	RPE65	NM_000329.3(RPE65):c.609C>T:p.Ala203=	coding	Benign
1	68440926	G	A	G68440926A	RPE65	NM_000329.3(RPE65):c.570C>T:p.Tyr190=	coding	Benign
1	68440951	T	C	T68440951C	RPE65	NM_000329.3(RPE65):c.545A>G:p.His182Arg	coding	Pathogenic
1	68440997	C	A	C68440997A	RPE65	NM_000329.3(RPE65):c.499G>T:p.Asp167Tyr	coding	Pathogenic/Likely_pathogenic
1	68444533	G	A	G68444533A	RPE65	NM_000329.3(RPE65):c.493C>T:p.Gln165Ter	coding	Pathogenic
1	68444594	G	C	G68444594C	RPE65	NM_000329.3(RPE65):c.432C>G:p.Tyr144Ter	coding	Pathogenic
1	68444596	A	C	A68444596C	RPE65	NM_000329.3(RPE65):c.430T>G:p.Tyr144Asp	coding	Pathogenic
1	68444882	A	G	A68444882G	RPE65	NM_000329.3(RPE65):c.247T>C:p.Phe83Leu	coding	Pathogenic
1	68444929	C	T	C68444929T	RPE65	NM_000329.3(RPE65):c.246-46G>A	noncoding	Benign
1	68446426	A	C	A68446426C	RPE65	NM_000329.3(RPE65):c.245+284T>G	noncoding	Benign
1	68446467	G	A	G68446467A	RPE65	NM_000329.3(RPE65):c.245+243C>T	noncoding	Benign
1	68446724	G	T	G68446724T	RPE65	NM_000329.3(RPE65):c.231C>A:p.Val77=	coding	Benign
1	68446755	A	C	A68446755C	RPE65	NM_000329.3(RPE65):c.200T>G:p.Leu67Arg	coding	Pathogenic
1	68446785	A	G	A68446785G	RPE65	NM_000329.3(RPE65):c.170T>C:p.Phe57Ser	coding	Pathogenic
1	68446878	C	T	C68446878T	RPE65	NM_000329.3(RPE65):c.95-18G>A	noncoding	Benign
1	68447072	T	C	T68447072C	RPE65	NM_000329.3(RPE65):c.95-212A>G	noncoding	Benign
1	68448624	C	A	C68448624A	RPE65	NM_000329.3(RPE65):c.94G>T:p.Gly32Cys	coding	Pathogenic
1	68448625	T	C	T68448625C	RPE65	NM_000329.3(RPE65):c.93A>G:p.Thr31=	coding	Pathogenic
1	68448987	A	G	A68448987G	RPE65	NM_000329.3(RPE65):c.12-281T>C	noncoding	Benign
1	68449796	A	T	A68449796T	RPE65	NM_000329.3(RPE65):c.11+99T>A	noncoding	Benign
1	68449861	A	T	A68449861T	RPE65	NM_000329.3(RPE65):c.11+34T>A	noncoding	Benign
1	74235611	T	A	T74235611A	TNNI3K	NM_015978.3(TNNI3K):c.40+120T>A	noncoding	Benign
1	74235967	A	T	A74235967T	TNNI3K	NM_015978.3(TNNI3K):c.41-135A>T	noncoding	Benign
1	74236202	T	C	T74236202C	TNNI3K	NM_015978.3(TNNI3K):c.141T>C:p.Asn47=	coding	Benign
1	74236266	T	A	T74236266A	TNNI3K	NM_015978.3(TNNI3K):c.149+56T>A	noncoding	Benign
1	74249502	G	T	G74249502T	TNNI3K	NM_015978.3(TNNI3K):c.193G>T:p.Glu65Ter	coding	Benign
1	74250626	C	A	C74250626A	TNNI3K	NM_015978.3(TNNI3K):c.236-46C>A	noncoding	Benign
1	74250840	T	C	T74250840C	TNNI3K	NM_015978.3(TNNI3K):c.333+71T>C	noncoding	Benign
1	74271397	A	G	A74271397G	TNNI3K	NM_015978.3(TNNI3K):c.334-201A>G	noncoding	Benign
1	74271482	A	C	A74271482C	TNNI3K	NM_015978.3(TNNI3K):c.334-116A>C	noncoding	Benign
1	74271582	A	T	A74271582T	TNNI3K	NM_015978.3(TNNI3K):c.334-16A>T	noncoding	Benign
1	74271585	T	C	T74271585C	TNNI3K	NM_015978.3(TNNI3K):c.334-13T>C	noncoding	Benign
1	74271690	A	G	A74271690G	TNNI3K	NM_015978.3(TNNI3K):c.426A>G:p.Thr142=	coding	Benign
1	74271913	A	G	A74271913G	TNNI3K	NM_015978.3(TNNI3K):c.444+205A>G	noncoding	Benign
1	74331430	A	G	A74331430G	TNNI3K	NM_015978.3(TNNI3K):c.445-20A>G	noncoding	Benign
1	74331440	T	C	T74331440C	TNNI3K	NM_015978.3(TNNI3K):c.445-10T>C	noncoding	Benign
1	74331470	A	G	A74331470G	TNNI3K	NM_015978.3(TNNI3K):c.465A>G:p.Gln155=	coding	Benign
1	74331517	T	C	T74331517C	TNNI3K	NM_015978.3(TNNI3K):c.512T>C:p.Leu171Ser	coding	Benign
1	74336058	T	C	T74336058C	TNNI3K	NM_015978.3(TNNI3K):c.591T>C:p.Gly197=	coding	Benign
1	74336123	T	C	T74336123C	TNNI3K	NM_015978.3(TNNI3K):c.656T>C:p.Leu219Ser	coding	Benign
1	74336180	A	G	A74336180G	TNNI3K	NM_015978.3(TNNI3K):c.682+31A>G	noncoding	Benign
1	74336280	T	G	T74336280G	TNNI3K	NM_015978.3(TNNI3K):c.682+131T>G	noncoding	Benign
1	74342997	T	C	T74342997C	TNNI3K	NM_015978.3(TNNI3K):c.827+11T>C	noncoding	Benign
1	74343056	A	C	A74343056C	TNNI3K	NM_015978.3(TNNI3K):c.828-19A>C	noncoding	Benign
1	74343121	A	G	A74343121G	TNNI3K	NM_015978.3(TNNI3K):c.874A>G:p.Ile292Val	coding	Benign
1	74353188	G	A	G74353188A	TNNI3K	NM_015978.3(TNNI3K):c.933-78G>A	noncoding	Benign
1	74353252	G	T	G74353252T	TNNI3K	NM_015978.3(TNNI3K):c.933-14G>T	noncoding	Benign
1	74353393	T	G	T74353393G	TNNI3K	NM_015978.3(TNNI3K):c.1027+33T>G	noncoding	Benign
1	74367073	A	G	A74367073G	TNNI3K	NM_015978.3(TNNI3K):c.1178-183A>G	noncoding	Benign
1	74369010	T	C	T74369010C	TNNI3K	NM_015978.3(TNNI3K):c.1322-12T>C	noncoding	Benign
1	74369134	T	C	T74369134C	TNNI3K	NM_015978.3(TNNI3K):c.1414+20T>C	noncoding	Benign
1	74369533	A	G	A74369533G	TNNI3K	NM_015978.3(TNNI3K):c.1615A>G:p.Thr539Ala	coding	Pathogenic
1	74370104	T	C	T74370104C	TNNI3K	NM_015978.3(TNNI3K):c.1668-184T>C	noncoding	Benign
1	74370470	T	G	T74370470G	TNNI3K	NM_015978.3(TNNI3K):c.1772+78T>G	noncoding	Benign
1	74370520	C	T	C74370520T	TNNI3K	NM_015978.3(TNNI3K):c.1772+128C>T	noncoding	Benign
1	74370544	T	A	T74370544A	TNNI3K	NM_015978.3(TNNI3K):c.1772+152T>A	noncoding	Benign
1	74436061	T	C	T74436061C	TNNI3K	NM_015978.3(TNNI3K):c.1773-19T>C	noncoding	Benign
1	74436145	A	C	A74436145C	TNNI3K	NM_015978.3(TNNI3K):c.1825+13A>C	noncoding	Benign
1	74436487	A	G	A74436487G	TNNI3K	NM_015978.3(TNNI3K):c.1839A>G:p.Leu613=	coding	Benign
1	74436534	G	A	G74436534A	TNNI3K	NM_015978.3(TNNI3K):c.1878+8G>A	noncoding	Benign
1	74436560	A	G	A74436560G	TNNI3K	NM_015978.3(TNNI3K):c.1878+34A>G	noncoding	Benign
1	74436594	C	T	C74436594T	TNNI3K	NM_015978.3(TNNI3K):c.1878+68C>T	noncoding	Benign
1	74436721	G	T	G74436721T	TNNI3K	NM_015978.3(TNNI3K):c.1878+195G>T	noncoding	Benign
1	74439418	A	G	A74439418G	TNNI3K	NM_015978.3(TNNI3K):c.1879-72A>G	noncoding	Benign
1	74439472	A	T	A74439472T	TNNI3K	NM_015978.3(TNNI3K):c.1879-18A>T	noncoding	Benign
1	74439484	G	A	G74439484A	TNNI3K	NM_015978.3(TNNI3K):c.1879-6G>A	noncoding	Benign
1	74439607	G	A	G74439607A	TNNI3K	NM_015978.3(TNNI3K):c.1996G>A:p.Ala666Thr	coding	Benign
1	74463391	T	C	T74463391C	TNNI3K	NM_015978.3(TNNI3K):c.2012-50T>C	noncoding	Benign
1	74463486	T	C	T74463486C	TNNI3K	NM_015978.3(TNNI3K):c.2057T>C:p.Ile686Thr	coding	Benign
1	74489268	A	C	A74489268C	TNNI3K	NM_015978.3(TNNI3K):c.2181+20A>C	noncoding	Benign
1	74489385	T	G	T74489385G	TNNI3K	NM_015978.3(TNNI3K):c.2181+137T>G	noncoding	Benign
1	74492012	A	G	A74492012G	TNNI3K	NM_015978.3(TNNI3K):c.2182-85A>G	noncoding	Benign
1	74492087	C	T	C74492087T	TNNI3K	NM_015978.3(TNNI3K):c.2182-10C>T	noncoding	Benign/Likely_benign
1	74492217	G	A	G74492217A	TNNI3K	NM_015978.3(TNNI3K):c.2302G>A:p.Glu768Lys	coding	Pathogenic/Likely_pathogenic
1	74492266	G	A	G74492266A	TNNI3K	NM_015978.3(TNNI3K):c.2351G>A:p.Ser784Asn	coding	Benign
1	74492410	C	T	C74492410T	TNNI3K	NM_015978.3(TNNI3K):c.2351+144C>T	noncoding	Benign
1	74540092	A	G	A74540092G	TNNI3K	NM_015978.3(TNNI3K):c.2352-142A>G	noncoding	Benign
1	74540291	A	G	A74540291G	TNNI3K	NM_015978.3(TNNI3K):c.2409A>G:p.Gln803=	coding	Benign
1	74540319	T	C	T74540319C	TNNI3K	NM_015978.3(TNNI3K):c.2431+6T>C	noncoding	Benign
1	74540343	A	G	A74540343G	TNNI3K	NM_015978.3(TNNI3K):c.2431+30A>G	noncoding	Benign
1	74540392	G	A	G74540392A	TNNI3K	NM_015978.3(TNNI3K):c.2431+79G>A	noncoding	Benign
1	74543923	A	G	A74543923G	TNNI3K	NM_015978.3(TNNI3K):c.2449A>G:p.Met817Val	coding	Benign
1	74544015	T	C	T74544015C	TNNI3K	NM_015978.3(TNNI3K):c.*33T>C	noncoding	Benign
1	75724261	G	T	G75724261T	ACADM	Single_allele	noncoding	Benign
1	75724387	G	A	G75724387A	ACADM	NM_000016.6(ACADM):c.-401G>A	noncoding	Benign/Likely_benign
1	75724426	T	C	T75724426C	ACADM	NM_000016.6(ACADM):c.-362T>C	noncoding	Benign/Likely_benign
1	75724531	G	A	G75724531A	ACADM	NM_000016.5(ACADM):c.-257G>A	noncoding	Benign/Likely_benign
1	75724646	C	G	C75724646G	ACADM	NM_000016.6(ACADM):c.-142C>G	noncoding	Benign/Likely_benign
1	75724788	A	G	A75724788G	ACADM	NM_000016.6(ACADM):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
1	75724788	A	T	A75724788T	ACADM	NM_000016.6(ACADM):c.1A>T:p.Met1Leu	coding	Pathogenic
1	75724790	G	C	G75724790C	ACADM	NM_000016.6(ACADM):c.3G>C:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
1	75724811	C	A	C75724811A	ACADM	NM_000016.6(ACADM):c.24C>A:p.Cys8Ter	coding	Pathogenic
1	75724819	T	C	T75724819C	ACADM	NM_000016.6(ACADM):c.30+2T>C	noncoding	Pathogenic/Likely_pathogenic
1	75724819	T	G	T75724819G	ACADM	NM_000016.6(ACADM):c.30+2T>G	noncoding	Pathogenic
1	75724883	C	T	C75724883T	ACADM	NM_000016.6(ACADM):c.30+66C>T	noncoding	Benign
1	75725005	C	A	C75725005A	ACADM	NM_000016.6(ACADM):c.30+188C>A	noncoding	Benign
1	75728456	G	T	G75728456T	ACADM	NM_000016.6(ACADM):c.86G>T:p.Arg29Leu	coding	Pathogenic
1	75728621	A	G	A75728621G	ACADM	NM_000016.6(ACADM):c.118+133A>G	noncoding	Benign
1	75732561	A	C	A75732561C	ACADM	NM_000016.6(ACADM):c.119-83A>C	noncoding	Benign
1	75732889	G	C	G75732889C	ACADM	NM_000016.6(ACADM):c.253G>C:p.Gly85Arg	coding	Pathogenic
1	75732896	T	C	T75732896C	ACADM	NM_000016.6(ACADM):c.260T>C:p.Met87Thr	coding	Pathogenic
1	75733583	T	A	T75733583A	ACADM	NM_000016.6(ACADM):c.342T>A:p.Tyr114Ter	coding	Pathogenic
1	75733699	G	A	G75733699A	ACADM	NM_000016.6(ACADM):c.387+71G>A	noncoding	Benign
1	75734484	A	G	A75734484G	ACADM	NM_000016.6(ACADM):c.388-307A>G	noncoding	Benign
1	75734810	C	T	C75734810T	ACADM	NM_000016.6(ACADM):c.407C>T:p.Ala136Val	coding	Pathogenic
1	75734873	T	C	T75734873C	ACADM	NM_000016.6(ACADM):c.468+2T>C	noncoding	Pathogenic
1	75740065	T	C	T75740065C	ACADM	NM_000016.6(ACADM):c.554T>C:p.Ile185Thr	coding	Pathogenic
1	75740111	G	A	G75740111A	ACADM	NM_000016.6(ACADM):c.599+1G>A	coding	Pathogenic/Likely_pathogenic
1	75745815	A	C	A75745815C	ACADM	NM_000016.6(ACADM):c.609A>C:p.Leu203Phe	coding	Pathogenic/Likely_pathogenic
1	75745819	G	C	G75745819C	ACADM	NM_000016.6(ACADM):c.613G>C:p.Ala205Pro	coding	Pathogenic
1	75745820	C	T	C75745820T	ACADM	NM_000016.6(ACADM):c.614C>T:p.Ala205Val	coding	Pathogenic
1	75745859	C	G	C75745859G	ACADM	NM_000016.6(ACADM):c.653C>G:p.Ala218Gly	coding	Pathogenic
1	75745874	T	C	T75745874C	ACADM	NM_000016.6(ACADM):c.668T>C:p.Ile223Thr	coding	Pathogenic
1	75749417	A	C	A75749417C	ACADM	NM_000016.6(ACADM):c.709-2A>C	noncoding	Pathogenic/Likely_pathogenic
1	75749418	G	A	G75749418A	ACADM	NM_000016.6(ACADM):c.709-1G>A	noncoding	Pathogenic/Likely_pathogenic
1	75749437	C	T	C75749437T	ACADM	NM_000016.6(ACADM):c.727C>T:p.Arg243Ter	coding	Pathogenic
1	75749467	G	A	G75749467A	ACADM	NM_000016.6(ACADM):c.757G>A:p.Glu253Lys	coding	Pathogenic/Likely_pathogenic
1	75749561	T	C	T75749561C	ACADM	NM_000016.6(ACADM):c.849+2T>C	noncoding	Pathogenic
1	75750181	C	T	C75750181T	ACADM	NM_000016.6(ACADM):c.850-270C>T	noncoding	Benign
1	75750645	T	C	T75750645C	ACADM	NM_000016.6(ACADM):c.945+99T>C	noncoding	Benign
1	75760799	A	G	A75760799G	ACADM	NM_000016.6(ACADM):c.946-323A>G	noncoding	Benign
1	75760872	G	C	G75760872C	ACADM	NM_000016.6(ACADM):c.946-250G>C	noncoding	Benign
1	75761116	T	G	T75761116G	ACADM	NM_000016.6(ACADM):c.946-6T>G	noncoding	Pathogenic
1	75761135	C	A	C75761135A	ACADM	NM_000016.6(ACADM):c.959C>A:p.Ser320Ter	coding	Pathogenic/Likely_pathogenic
1	75761153	T	C	T75761153C	ACADM	NM_000016.6(ACADM):c.977T>C:p.Met326Thr	coding	Pathogenic/Likely_pathogenic
1	75761187	C	A	C75761187A	ACADM	NM_000016.6(ACADM):c.1011C>A:p.Tyr337Ter	coding	Pathogenic
1	75761210	A	T	A75761210T	ACADM	NM_000016.6(ACADM):c.1034A>T:p.Asp345Val	coding	Pathogenic
1	75761222	G	A	G75761222A	ACADM	NM_000016.6(ACADM):c.1046G>A:p.Arg349Gln	coding	Pathogenic
1	75761228	C	T	C75761228T	ACADM	NM_000016.6(ACADM):c.1052C>T:p.Thr351Ile	coding	Pathogenic/Likely_pathogenic
1	75761243	T	C	T75761243C	ACADM	NM_000016.6(ACADM):c.1067T>C:p.Ile356Thr	coding	Pathogenic
1	75761296	C	T	C75761296T	ACADM	NM_000016.6(ACADM):c.1120C>T:p.Gln374Ter	coding	Pathogenic
1	75761351	G	A	G75761351A	ACADM	NM_000016.6(ACADM):c.1175G>A:p.Arg392Lys	coding	Pathogenic
1	75761381	A	G	A75761381G	ACADM	NM_000016.6(ACADM):c.1194+11A>G	noncoding	Benign/Likely_benign
1	75761593	A	G	A75761593G	ACADM	NM_000016.6(ACADM):c.1194+223A>G	noncoding	Benign
1	75762704	A	G	A75762704G	ACADM	NM_000016.6(ACADM):c.1207A>G:p.Thr403Ala	coding	Pathogenic/Likely_pathogenic
1	75879003	C	T	C75879003T	MSH4	NM_002440.4(MSH4):c.1552C>T:p.Gln518Ter	coding	Pathogenic
1	75883664	G	A	G75883664A	MSH4	NM_002440.4(MSH4):c.1950G>A:p.Trp650Ter	coding	Pathogenic
1	75890825	G	A	G75890825A	MSH4	NM_002440.4(MSH4):c.2355+1G>A	coding	Pathogenic
1	75912804	C	T	C75912804T	MSH4	NM_002440.4(MSH4):c.2728C>T:p.Arg910Ter	coding	Pathogenic
1	77092372	G	C	G77092372C	PIGK	NM_005482.3(PIGK):c.*2C>G	noncoding	Benign
1	77161411	G	A	G77161411A	PIGK	NM_005482.3(PIGK):c.703-6C>T	noncoding	Benign
1	77161686	C	G	C77161686G	PIGK	NM_005482.3(PIGK):c.610G>C:p.Asp204His	coding	Pathogenic
1	77169263	G	A	G77169263A	PIGK	NM_005482.3(PIGK):c.372C>T:p.Tyr124=	coding	Benign
1	77219357	T	C	T77219357C	PIGK	NM_005482.3(PIGK):c.46A>G:p.Thr16Ala	coding	Benign
1	77888900	G	T	G77888900T	NEXN	NM_144573.4(NEXN):c.-53+141G>T	noncoding	Benign
1	77917739	G	A	G77917739A	NEXN	NM_144573.4(NEXN):c.201G>A:p.Trp67Ter	coding	Pathogenic
1	77925335	T	C	T77925335C	NEXN	NM_144573.4(NEXN):c.489+106T>C	noncoding	Benign
1	77925436	C	T	C77925436T	NEXN	NM_144573.4(NEXN):c.489+207C>T	noncoding	Benign
1	77929299	A	G	A77929299G	NEXN	NM_144573.4(NEXN):c.865-17A>G	noncoding	Benign/Likely_benign
1	77935813	T	G	T77935813G	NEXN	NM_144573.4(NEXN):c.1252-10T>G	noncoding	Benign/Likely_benign
1	77942851	C	G	C77942851G	NEXN	NM_144573.4(NEXN):c.*22C>G	noncoding	Benign
1	84182252	C	T	C84182252T	PRKACB	NM_182948.4(PRKACB):c.302C>T:p.Ser101Leu	coding	Pathogenic
1	84184061	C	A	C84184061A	PRKACB	NM_182948.4(PRKACB):c.403C>A:p.His135Asn	coding	Pathogenic
1	84184062	A	G	A84184062G	PRKACB	NM_182948.4(PRKACB):c.404A>G:p.His135Arg	coding	Pathogenic
1	84202743	G	C	G84202743C	PRKACB	NM_182948.4(PRKACB):c.844G>C:p.Gly282Arg	coding	Pathogenic
1	85276285	G	C	G85276285C	BCL10	NM_003921.5(BCL10):c.57+11C>G	noncoding	Benign
1	85580497	C	A	C85580497A	CCN1	Single_allele	noncoding	Benign
1	85580499	C	A	C85580499A	CCN1	Single_allele	noncoding	Benign
1	85580878	C	A	C85580878A	CCN1	NM_001554.5(CCN1):c.-107C>A	noncoding	Benign
1	85581241	G	A	G85581241A	CCN1	NM_001554.5(CCN1):c.64-124G>A	noncoding	Benign
1	85581628	G	C	G85581628C	CCN1	NM_001554.5(CCN1):c.277+50G>C	noncoding	Benign
1	86455221	A	G	A86455221G	CLCA2	NM_006536.7(CLCA2):c.2526A>G:p.Gln842=	coding	Benign
1	86495608	C	G	C86495608G	CLCA1	NM_001285.4(CLCA1):c.2046C>G:p.Asn682Lys	coding	Benign
1	87092574	G	T	G87092574T	HS2ST1	NM_012262.4(HS2ST1):c.493G>T:p.Asp165Tyr	coding	Pathogenic
1	87092608	T	C	T87092608C	HS2ST1	NM_012262.4(HS2ST1):c.527T>C:p.Phe176Ser	coding	Pathogenic
1	87092648	A	C	A87092648C	HS2ST1	NM_012262.4(HS2ST1):c.567A>C:p.Arg189Ser	coding	Pathogenic
1	91276627	C	T	C91276627T	HFM1	NM_001017975.6(HFM1):c.3588+1G>A	noncoding	Pathogenic
1	91351645	T	G	T91351645G	HFM1	NM_001017975.6(HFM1):c.1978-2A>C	noncoding	Pathogenic
1	91352578	A	T	A91352578T	HFM1	NM_001017975.6(HFM1):c.1905T>A:p.Tyr635Ter	coding	Pathogenic
1	91375651	A	G	A91375651G	HFM1	NM_001017975.6(HFM1):c.1472T>C:p.Leu491Pro	coding	Pathogenic
1	91378065	C	T	C91378065T	HFM1	NM_001017975.6(HFM1):c.1355G>A:p.Arg452Gln	coding	Pathogenic
1	91394244	A	G	A91394244G	HFM1	NM_001017975.6(HFM1):c.343T>C:p.Ser115Pro	coding	Benign
1	91500888	A	G	A91500888G	CDC7	NM_003503.4(CDC7):c.-124A>G	noncoding	Benign
1	91797317	T	C	T91797317C	TGFBR3	NM_003243.5(TGFBR3):c.216A>G:p.Ala72=	coding	Benign
1	92246709	C	T	C92246709T	GLMN	NM_053274.3(GLMN):c.1669-63G>A	noncoding	Benign
1	92263713	C	T	C92263713T	GLMN	NM_053274.3(GLMN):c.1319G>A:p.Trp440Ter	coding	Pathogenic
1	92263889	C	T	C92263889T	GLMN	NM_053274.3(GLMN):c.1300-157G>A	noncoding	Benign
1	92268313	G	A	G92268313A	GLMN	NM_053274.3(GLMN):c.978-178C>T	noncoding	Benign
1	92268409	A	C	A92268409C	GLMN	NM_053274.3(GLMN):c.978-274T>G	noncoding	Benign
1	92269455	G	A	G92269455A	GLMN	NM_053274.3(GLMN):c.977+268C>T	noncoding	Benign
1	92269802	T	C	T92269802C	GLMN	NM_053274.3(GLMN):c.924-26A>G	noncoding	Benign
1	92271547	G	A	G92271547A	GLMN	NM_053274.3(GLMN):c.841C>T:p.Gln281Ter	coding	Pathogenic
1	92288725	G	A	G92288725A	GLMN	NM_053274.3(GLMN):c.632+189C>T	noncoding	Benign
1	92290386	G	A	G92290386A	GLMN	NM_053274.3(GLMN):c.286-80C>T	noncoding	Benign
1	92291236	T	C	T92291236C	GLMN	NM_053274.3(GLMN):c.285+182A>G	noncoding	Benign
1	92475800	A	G	A92475800G	GFI1	NM_005263.5(GFI1):c.*229T>C	noncoding	Benign
1	92480294	A	C	A92480294C	GFI1	NM_005263.5(GFI1):c.924+54T>G	noncoding	Benign
1	92480338	C	G	C92480338G	GFI1	NM_005263.5(GFI1):c.924+10G>C	noncoding	Benign
1	92480590	G	T	G92480590T	GFI1	NM_005263.5(GFI1):c.786+11C>A	noncoding	Benign/Likely_benign
1	92480799	G	A	G92480799A	GFI1	NM_005263.5(GFI1):c.588C>T:p.Gly196=	coding	Benign
1	92481279	A	G	A92481279G	GFI1	NM_005263.5(GFI1):c.299-191T>C	noncoding	Benign
1	92483425	T	C	T92483425C	GFI1	NM_005263.5(GFI1):c.63A>G:p.Pro21=	coding	Benign/Likely_benign
1	92483683	C	G	C92483683G	GFI1	NM_005263.5(GFI1):c.-99-97G>C	noncoding	Benign
1	92832000	C	A	C92832000A	RPL5	NR_146333.1(RPL5):n.15C>A	noncoding	Benign
1	92832115	A	C	A92832115C	RPL5	NM_000969.5(RPL5):c.1A>C:p.Met1Leu	coding	Pathogenic
1	92832115	A	G	A92832115G	RPL5	NM_000969.5(RPL5):c.1A>G:p.Met1Val	coding	Pathogenic
1	92832117	G	A	G92832117A	RPL5	NM_000969.5(RPL5):c.3G>A:p.Met1Ile	coding	Pathogenic
1	92833407	A	T	A92833407T	RPL5	NM_000969.5(RPL5):c.22A>T:p.Lys8Ter	coding	Pathogenic
1	92836250	G	T	G92836250T	RPL5	NM_000969.5(RPL5):c.385G>T:p.Glu129Ter	coding	Pathogenic
1	92836273	T	C	T92836273C	RPL5	NM_000969.5(RPL5):c.408T>C:p.Asp136_Gly137=	coding	Benign
1	92836277	C	T	C92836277T	RPL5	NM_000969.5(RPL5):c.412C>T:p.Gln138Ter	coding	Pathogenic
1	92836288	C	T	C92836288T	RPL5	NM_000969.5(RPL5):c.423C>T:p.Ala141_Phe142=	coding	Benign/Likely_benign
1	92837585	C	A	C92837585A	DIPK1A;RPL5	NM_000969.5(RPL5):c.657C>A:p.Tyr219Ter	coding	Pathogenic
1	92840587	C	T	C92840587T	RPL5	NM_000969.5(RPL5):c.742C>T:p.Arg248Ter	coding	Pathogenic
1	92841656	G	T	G92841656T	RPL5	NM_000969.5(RPL5):c.795-110G>T	noncoding	Benign
1	92841745	A	G	A92841745G	RPL5	NM_000969.5(RPL5):c.795-21A>G	noncoding	Benign
1	94010479	C	T	C94010479T	ABCA4	NM_000350.3(ABCA4):c.5714+321G>A	noncoding	Benign
1	94010799	C	A	C94010799A	ABCA4	NM_000350.3(ABCA4):c.5714+1G>T	noncoding	Pathogenic/Likely_pathogenic
1	94010799	C	T	C94010799T	ABCA4	NM_000350.3(ABCA4):c.5714+1G>A	noncoding	Pathogenic
1	94010804	G	A	G94010804A	ABCA4	NM_000350.3(ABCA4):c.5710C>T:p.Gln1904Ter	coding	Pathogenic
1	94010823	C	A	C94010823A	ABCA4	NM_000350.3(ABCA4):c.5691G>T:p.Gln1897His	coding	Pathogenic/Likely_pathogenic
1	94010834	G	A	G94010834A	ABCA4	NM_000350.3(ABCA4):c.5680C>T:p.Leu1894=	coding	Benign
1	94010868	C	A	C94010868A	ABCA4	NM_000350.3(ABCA4):c.5646G>T:p.Met1882Ile	coding	Pathogenic
1	94010899	C	T	C94010899T	ABCA4	NM_000350.3(ABCA4):c.5615G>A:p.Trp1872Ter	coding	Pathogenic
1	94010999	G	A	G94010999A	ABCA4	NM_000350.3(ABCA4):c.5585-70C>T	noncoding	Benign
1	94011049	C	T	C94011049T	ABCA4	NM_000350.3(ABCA4):c.5585-120G>A	noncoding	Benign
1	94011139	C	T	C94011139T	ABCA4	NM_000350.3(ABCA4):c.5584+123G>A	noncoding	Benign
1	94011262	C	G	C94011262G	ABCA4	NM_000350.3(ABCA4):c.5584G>C:p.Gly1862Arg	coding	Pathogenic
1	94011274	A	T	A94011274T	ABCA4	NM_000350.3(ABCA4):c.5572T>A:p.Tyr1858Asn	coding	Pathogenic/Likely_pathogenic
1	94011292	G	A	G94011292A	ABCA4	NM_000350.3(ABCA4):c.5554C>T:p.Gln1852Ter	coding	Pathogenic
1	94011297	A	G	A94011297G	ABCA4	NM_000350.3(ABCA4):c.5549T>C:p.Leu1850Pro	coding	Pathogenic/Likely_pathogenic
1	94011309	A	G	A94011309G	ABCA4	NM_000350.3(ABCA4):c.5537T>C:p.Ile1846Thr	coding	Pathogenic
1	94011319	G	A	G94011319A	ABCA4	NM_000350.3(ABCA4):c.5527C>T:p.Arg1843Trp	coding	Pathogenic/Likely_pathogenic
1	94011333	T	C	T94011333C	ABCA4	NM_000350.3(ABCA4):c.5513A>G:p.His1838Arg	coding	Pathogenic/Likely_pathogenic
1	94011334	G	C	G94011334C	ABCA4	NM_000350.3(ABCA4):c.5512C>G:p.His1838Asp	coding	Pathogenic/Likely_pathogenic
1	94011386	C	A	C94011386A	ABCA4	NM_000350.3(ABCA4):c.5461-1G>T	coding	Pathogenic
1	94011669	G	A	G94011669A	ABCA4	NM_000350.3(ABCA4):c.5461-284C>T	noncoding	Benign
1	94011722	C	T	C94011722T	ABCA4	NM_000350.3(ABCA4):c.5461-337G>A	noncoding	Benign
1	94014321	G	C	G94014321C	ABCA4	NM_000350.3(ABCA4):c.5460+222C>G	noncoding	Benign
1	94014481	C	T	C94014481T	ABCA4	NM_000350.3(ABCA4):c.5460+62G>A	noncoding	Benign
1	94014623	C	G	C94014623G	ABCA4	NM_000350.3(ABCA4):c.5380G>C:p.Ala1794Pro	coding	Pathogenic
1	94014679	A	T	A94014679T	ABCA4	NM_000350.3(ABCA4):c.5324T>A:p.Ile1775Asn	coding	Pathogenic
1	94014799	T	C	T94014799C	ABCA4	NM_000350.3(ABCA4):c.5313-109A>G	noncoding	Benign
1	94015435	T	C	T94015435C	ABCA4	NM_000350.3(ABCA4):c.5312+304A>G	noncoding	Benign
1	94015512	A	G	A94015512G	ABCA4	NM_000350.3(ABCA4):c.5312+227T>C	noncoding	Benign
1	94015742	T	C	T94015742C	ABCA4	NM_000350.3(ABCA4):c.5309A>G:p.Tyr1770Cys	coding	Pathogenic
1	94015744	C	G	C94015744G	ABCA4	NM_000350.3(ABCA4):c.5307G>C:p.Leu1769=	coding	Benign
1	94015803	G	A	G94015803A	ABCA4	NM_000350.3(ABCA4):c.5248C>T:p.Gln1750Ter	coding	Pathogenic
1	94015949	A	G	A94015949G	ABCA4	NM_000350.3(ABCA4):c.5197-95T>C	noncoding	Benign
1	94018366	G	T	G94018366T	ABCA4	NM_000350.3(ABCA4):c.5196+1216C>A	noncoding	Pathogenic
1	94018423	C	T	C94018423T	ABCA4	NM_000350.3(ABCA4):c.5196+1159G>A	noncoding	Benign/Likely_benign
1	94018567	T	C	T94018567C	ABCA4	NM_000350.3(ABCA4):c.5196+1015A>G	noncoding	Benign
1	94019562	C	T	C94019562T	ABCA4	NM_000350.3(ABCA4):c.5196+20G>A	noncoding	Benign
1	94019588	C	T	C94019588T	ABCA4	NM_000350.3(ABCA4):c.5190G>A:p.Trp1730Ter	coding	Pathogenic
1	94019592	A	G	A94019592G	ABCA4	NM_000350.3(ABCA4):c.5186T>C:p.Leu1729Pro	coding	Pathogenic
1	94019641	G	T	G94019641T	ABCA4	NM_000350.3(ABCA4):c.5137C>A:p.Gln1713Lys	coding	Pathogenic/Likely_pathogenic
1	94019691	C	T	C94019691T	ABCA4	NM_000350.3(ABCA4):c.5087G>A:p.Ser1696Asn	coding	Pathogenic/Likely_pathogenic
1	94019694	G	T	G94019694T	ABCA4	NM_000350.3(ABCA4):c.5084C>A:p.Ala1695Asp	coding	Pathogenic
1	94019708	C	T	C94019708T	ABCA4	NM_000350.3(ABCA4):c.5070G>A:p.Met1690Ile	coding	Pathogenic
1	94019723	G	T	G94019723T	ABCA4	NM_000350.3(ABCA4):c.5055C>A:p.Cys1685Ter	coding	Pathogenic
1	94020044	T	C	T94020044C	ABCA4	NM_000350.3(ABCA4):c.5019-285A>G	noncoding	Benign
1	94021031	G	T	G94021031T	ABCA4	NM_000350.3(ABCA4):c.5018+209C>A	noncoding	Benign
1	94021111	T	G	T94021111G	ABCA4	NM_000350.3(ABCA4):c.5018+129A>C	noncoding	Benign
1	94021384	T	C	T94021384C	ABCA4	NM_000350.3(ABCA4):c.4874A>G:p.His1625Arg	coding	Pathogenic
1	94021385	G	A	G94021385A	ABCA4	NM_000350.3(ABCA4):c.4873C>T:p.His1625Tyr	coding	Pathogenic/Likely_pathogenic
1	94021386	C	T	C94021386T	ABCA4	NM_000350.3(ABCA4):c.4872G>A:p.Trp1624Ter	coding	Pathogenic
1	94021713	C	T	C94021713T	ABCA4	NM_000350.3(ABCA4):c.4775G>A:p.Gly1592Asp	coding	Pathogenic
1	94021715	C	A	C94021715A	ABCA4	NM_000350.3(ABCA4):c.4774-1G>T	coding	Pathogenic
1	94021716	T	C	T94021716C	ABCA4	NM_000350.3(ABCA4):c.4774-2A>G	noncoding	Pathogenic
1	94021845	C	A	C94021845A	ABCA4	NM_000350.3(ABCA4):c.4773+1G>T	noncoding	Pathogenic
1	94021846	C	A	C94021846A	ABCA4	NM_000350.3(ABCA4):c.4773G>T:p.Gly1591=	coding	Pathogenic/Likely_pathogenic
1	94021899	C	A	C94021899A	ABCA4	NM_000350.3(ABCA4):c.4720G>T:p.Glu1574Ter	coding	Pathogenic
1	94021948	A	T	A94021948T	ABCA4	NM_000350.3(ABCA4):c.4671T>A:p.Tyr1557Ter	coding	Pathogenic
1	94021952	C	T	C94021952T	ABCA4	NM_000350.3(ABCA4):c.4668-1G>A	coding	Pathogenic
1	94023386	C	T	C94023386T	ABCA4	NM_000350.3(ABCA4):c.4667G>A:p.Arg1556Lys	coding	Pathogenic
1	94027381	G	A	G94027381A	ABCA4	NM_000350.3(ABCA4):c.4539+2064C>T	noncoding	Pathogenic/Likely_pathogenic
1	94027675	G	T	G94027675T	ABCA4	NM_000350.3(ABCA4):c.4539+1770C>A	noncoding	Benign
1	94027716	C	A	C94027716A	ABCA4	NM_000350.3(ABCA4):c.4539+1729G>T	noncoding	Pathogenic
1	94029452	G	C	G94029452C	ABCA4	NM_000350.3(ABCA4):c.4532C>G:p.Pro1511Arg	coding	Pathogenic
1	94029452	G	T	G94029452T	ABCA4	NM_000350.3(ABCA4):c.4532C>A:p.Pro1511His	coding	Pathogenic/Likely_pathogenic
1	94029478	G	T	G94029478T	ABCA4	NM_000350.3(ABCA4):c.4506C>A:p.Cys1502Ter	coding	Pathogenic
1	94029483	C	A	C94029483A	ABCA4	NM_000350.3(ABCA4):c.4501G>T:p.Glu1501Ter	coding	Pathogenic
1	94029548	C	T	C94029548T	ABCA4	NM_000350.3(ABCA4):c.4436G>A:p.Trp1479Ter	coding	Pathogenic
1	94029561	G	A	G94029561A	ABCA4	NM_000350.3(ABCA4):c.4423C>T:p.Gln1475Ter	coding	Pathogenic
1	94029625	G	C	G94029625C	ABCA4	NM_000350.3(ABCA4):c.4359C>G:p.Tyr1453Ter	coding	Pathogenic
1	94029851	C	T	C94029851T	ABCA4	NM_000350.3(ABCA4):c.4353-220G>A	noncoding	Benign
1	94029861	C	T	C94029861T	ABCA4	NM_000350.3(ABCA4):c.4353-230G>A	noncoding	Benign
1	94029931	G	A	G94029931A	ABCA4	NM_000350.3(ABCA4):c.4353-300C>T	noncoding	Benign
1	94030374	T	C	T94030374C	ABCA4	NM_000350.3(ABCA4):c.4352+54A>G	noncoding	Benign
1	94030396	T	C	T94030396C	ABCA4	NM_000350.3(ABCA4):c.4352+32A>G	noncoding	Benign
1	94030890	T	C	T94030890C	ABCA4	NM_000350.3(ABCA4):c.4253+106A>G	noncoding	Benign
1	94030983	C	T	C94030983T	ABCA4	NM_000350.3(ABCA4):c.4253+13G>A	noncoding	Benign/Likely_benign
1	94031012	G	A	G94031012A	ABCA4	NM_000350.3(ABCA4):c.4237C>T:p.Gln1413Ter	coding	Pathogenic
1	94031086	A	G	A94031086G	ABCA4	NM_000350.3(ABCA4):c.4163T>C:p.Leu1388Pro	coding	Pathogenic
1	94031239	G	A	G94031239A	ABCA4	NM_000350.3(ABCA4):c.4129-119C>T	noncoding	Benign
1	94031577	G	A	G94031577A	ABCA4	NM_000350.3(ABCA4):c.4128+201C>T	noncoding	Benign
1	94031777	C	T	C94031777T	ABCA4	NM_000350.3(ABCA4):c.4128+1G>A	noncoding	Pathogenic
1	94031781	C	T	C94031781T	ABCA4	NM_000350.3(ABCA4):c.4125G>A:p.Ala1375=	coding	Benign
1	94031803	C	A	C94031803A	ABCA4	NM_000350.3(ABCA4):c.4103G>T:p.Arg1368Leu	coding	Pathogenic
1	94031804	G	A	G94031804A	ABCA4	NM_000350.3(ABCA4):c.4102C>T:p.Arg1368Cys	coding	Pathogenic
1	94031804	G	C	G94031804C	ABCA4	NM_000350.3(ABCA4):c.4102C>G:p.Arg1368Gly	coding	Pathogenic
1	94031836	G	A	G94031836A	ABCA4	NM_000350.3(ABCA4):c.4070C>T:p.Ala1357Val	coding	Pathogenic/Likely_pathogenic
1	94031836	G	T	G94031836T	ABCA4	NM_000350.3(ABCA4):c.4070C>A:p.Ala1357Glu	coding	Pathogenic
1	94031849	G	A	G94031849A	ABCA4	NM_000350.3(ABCA4):c.4057C>T:p.Gln1353Ter	coding	Pathogenic
1	94031963	G	A	G94031963A	ABCA4	NM_000350.3(ABCA4):c.3943C>T:p.Gln1315Ter	coding	Pathogenic
1	94032032	G	A	G94032032A	ABCA4	NM_000350.3(ABCA4):c.3874C>T:p.Gln1292Ter	coding	Pathogenic
1	94032130	G	T	G94032130T	ABCA4	NM_000350.3(ABCA4):c.3863-87C>A	noncoding	Benign
1	94036634	G	T	G94036634T	ABCA4	NM_000350.3(ABCA4):c.3862+106C>A	noncoding	Benign
1	94036738	A	G	A94036738G	ABCA4	NM_000350.3(ABCA4):c.3862+2T>C	noncoding	Pathogenic
1	94036790	T	A	T94036790A	ABCA4	NM_000350.3(ABCA4):c.3814-2A>T	noncoding	Pathogenic
1	94037136	C	G	C94037136G	ABCA4	NM_000350.3(ABCA4):c.3813+9G>C	noncoding	Benign
1	94037339	C	A	C94037339A	ABCA4	NM_000350.3(ABCA4):c.3619G>T:p.Glu1207Ter	coding	Pathogenic
1	94037627	A	G	A94037627G	ABCA4	NM_000350.3(ABCA4):c.3608-277T>C	noncoding	Benign
1	94037641	A	C	A94037641C	ABCA4	NM_000350.3(ABCA4):c.3608-291T>G	noncoding	Benign
1	94040086	A	T	A94040086T	ABCA4	NM_000350.3(ABCA4):c.3564T>A:p.Cys1188Ter	coding	Pathogenic
1	94041199	A	C	A94041199C	ABCA4	NM_000350.3(ABCA4):c.3522+10T>G	noncoding	Benign
1	94041249	C	T	C94041249T	ABCA4	NM_000350.3(ABCA4):c.3482G>A:p.Arg1161His	coding	Pathogenic/Likely_pathogenic
1	94041261	A	C	A94041261C	ABCA4	NM_000350.3(ABCA4):c.3470T>G:p.Leu1157Ter	coding	Pathogenic
1	94041311	G	C	G94041311C	ABCA4	NM_000350.3(ABCA4):c.3420C>G:p.Cys1140Trp	coding	Pathogenic
1	94041324	C	A	C94041324A	ABCA4	NM_000350.3(ABCA4):c.3407G>T:p.Gly1136Val	coding	Pathogenic
1	94041324	C	T	C94041324T	ABCA4	NM_000350.3(ABCA4):c.3407G>A:p.Gly1136Glu	coding	Pathogenic/Likely_pathogenic
1	94041351	C	T	C94041351T	ABCA4	NM_000350.3(ABCA4):c.3380G>A:p.Gly1127Glu	coding	Pathogenic
1	94041354	A	G	A94041354G	ABCA4	NM_000350.3(ABCA4):c.3377T>C:p.Leu1126Pro	coding	Pathogenic/Likely_pathogenic
1	94041379	G	A	G94041379A	ABCA4	NM_000350.3(ABCA4):c.3352C>T:p.His1118Tyr	coding	Pathogenic/Likely_pathogenic
1	94041387	A	G	A94041387G	ABCA4	NM_000350.3(ABCA4):c.3344T>C:p.Met1115Thr	coding	Pathogenic
1	94041396	G	T	G94041396T	ABCA4	NM_000350.3(ABCA4):c.3335C>A:p.Thr1112Asn	coding	Pathogenic
1	94041404	T	A	T94041404A	ABCA4	NM_000350.3(ABCA4):c.3329-2A>T	noncoding	Pathogenic
1	94041436	T	C	T94041436C	ABCA4	NM_000350.3(ABCA4):c.3329-34A>G	noncoding	Benign
1	94042789	G	C	G94042789C	ABCA4	NM_000350.3(ABCA4):c.3300C>G:p.Ile1100Met	coding	Pathogenic
1	94042790	A	G	A94042790G	ABCA4	NM_000350.3(ABCA4):c.3299T>C:p.Ile1100Thr	coding	Pathogenic
1	94042790	A	T	A94042790T	ABCA4	NM_000350.3(ABCA4):c.3299T>A:p.Ile1100Asn	coding	Pathogenic
1	94042793	G	C	G94042793C	ABCA4	NM_000350.3(ABCA4):c.3296C>G:p.Ser1099Ter	coding	Pathogenic
1	94042802	G	A	G94042802A	ABCA4	NM_000350.3(ABCA4):c.3287C>T:p.Ser1096Leu	coding	Pathogenic/Likely_pathogenic
1	94042876	C	T	C94042876T	ABCA4	NM_000350.3(ABCA4):c.3213G>A:p.Ser1071=	coding	Benign/Likely_benign
1	94042877	G	A	G94042877A	ABCA4	NM_000350.3(ABCA4):c.3212C>T:p.Ser1071Leu	coding	Pathogenic/Likely_pathogenic
1	94042900	T	C	T94042900C	ABCA4	NM_000350.3(ABCA4):c.3191-2A>G	noncoding	Pathogenic
1	94042918	G	A	G94042918A	ABCA4	NM_000350.3(ABCA4):c.3191-20C>T	noncoding	Benign/Likely_benign
1	94043489	A	T	A94043489T	ABCA4	NM_000350.3(ABCA4):c.3051-14T>A	noncoding	Benign/Likely_benign
1	94044285	T	C	T94044285C	ABCA4	NM_000350.3(ABCA4):c.3050+328A>G	noncoding	Benign
1	94044443	A	G	A94044443G	ABCA4	NM_000350.3(ABCA4):c.3050+170T>C	noncoding	Benign
1	94044597	T	C	T94044597C	ABCA4	NM_000350.3(ABCA4):c.3050+16A>G	noncoding	Benign/Likely_benign
1	94044622	A	C	A94044622C	ABCA4	NM_000350.3(ABCA4):c.3041T>G:p.Leu1014Arg	coding	Pathogenic/Likely_pathogenic
1	94044635	G	A	G94044635A	ABCA4	NM_000350.3(ABCA4):c.3028C>T:p.Gln1010Ter	coding	Pathogenic
1	94044659	G	A	G94044659A	ABCA4	NM_000350.3(ABCA4):c.3004C>T:p.Arg1002Trp	coding	Pathogenic
1	94044691	C	A	C94044691A	ABCA4	NM_000350.3(ABCA4):c.2972G>T:p.Gly991Val	coding	Pathogenic
1	94044731	C	T	C94044731T	ABCA4	NM_000350.3(ABCA4):c.2932G>A:p.Gly978Ser	coding	Pathogenic/Likely_pathogenic
1	94044746	T	C	T94044746C	ABCA4	NM_000350.3(ABCA4):c.2919-2A>G	noncoding	Pathogenic
1	94046804	G	A	G94046804A	ABCA4	NM_000350.3(ABCA4):c.2918+115C>T	noncoding	Benign
1	94046953	G	A	G94046953A	ABCA4	NM_000350.3(ABCA4):c.2884C>T:p.Leu962=	coding	Benign
1	94047217	C	T	C94047217T	ABCA4	NM_000350.3(ABCA4):c.2744-124G>A	noncoding	Benign
1	94047355	G	C	G94047355C	ABCA4	NM_000350.3(ABCA4):c.2744-262C>G	noncoding	Benign
1	94049004	A	G	A94049004G	ABCA4	NM_000350.3(ABCA4):c.2654-47T>C	noncoding	Benign
1	94049005	C	G	C94049005G	ABCA4	NM_000350.3(ABCA4):c.2654-48G>C	noncoding	Benign
1	94051429	A	C	A94051429C	ABCA4	NM_000350.3(ABCA4):c.2653+204T>G	noncoding	Benign
1	94051669	A	G	A94051669G	ABCA4	NM_000350.3(ABCA4):c.2617T>C:p.Phe873Leu	coding	Pathogenic
1	94054895	G	T	G94054895T	ABCA4	NM_000350.3(ABCA4):c.2587+216C>A	noncoding	Benign
1	94055110	C	T	C94055110T	ABCA4	NM_000350.3(ABCA4):c.2587+1G>A	noncoding	Pathogenic
1	94055202	G	A	G94055202A	ABCA4	NM_000350.3(ABCA4):c.2496C>T:p.Asp832=	coding	Benign
1	94055245	C	T	C94055245T	ABCA4	NM_000350.3(ABCA4):c.2453G>A:p.Gly818Glu	coding	Pathogenic
1	94055255	G	A	G94055255A	ABCA4	NM_000350.3(ABCA4):c.2443C>T:p.Gln815Ter	coding	Pathogenic
1	94055328	G	A	G94055328A	ABCA4	NM_000350.3(ABCA4):c.2383-13C>T	noncoding	Benign/Likely_benign
1	94056636	G	A	G94056636A	ABCA4	NM_000350.3(ABCA4):c.2347C>T:p.Gln783Ter	coding	Pathogenic
1	94056830	C	T	C94056830T	ABCA4	NM_000350.3(ABCA4):c.2161-8G>A	noncoding	Pathogenic
1	94056961	A	G	A94056961G	ABCA4	NM_000350.3(ABCA4):c.2161-139T>C	noncoding	Benign
1	94061378	T	C	T94061378C	ABCA4	NM_000350.3(ABCA4):c.1938-619A>G	noncoding	Pathogenic
1	94062142	G	C	G94062142C	ABCA4	NM_000350.3(ABCA4):c.1937+435C>G	noncoding	Pathogenic
1	94062590	A	T	A94062590T	ABCA4	NM_000350.3(ABCA4):c.1924T>A:p.Phe642Ile	coding	Pathogenic
1	94062606	C	A	C94062606A	ABCA4	NM_000350.3(ABCA4):c.1908G>T:p.Gln636His	coding	Pathogenic
1	94062700	C	T	C94062700T	ABCA4	NM_000350.3(ABCA4):c.1814G>A:p.Trp605Ter	coding	Pathogenic
1	94062748	C	T	C94062748T	ABCA4	NM_000350.3(ABCA4):c.1766G>A:p.Trp589Ter	coding	Pathogenic
1	94062755	T	C	T94062755C	ABCA4	NM_000350.3(ABCA4):c.1761-2A>G	noncoding	Pathogenic/Likely_pathogenic
1	94062790	C	T	C94062790T	ABCA4	NM_000350.3(ABCA4):c.1761-37G>A	noncoding	Benign
1	94062803	C	T	C94062803T	ABCA4	NM_000350.3(ABCA4):c.1761-50G>A	noncoding	Benign/Likely_benign
1	94062807	C	T	C94062807T	ABCA4	NM_000350.3(ABCA4):c.1761-54G>A	noncoding	Benign
1	94063174	G	C	G94063174C	ABCA4	NM_000350.3(ABCA4):c.1698C>G:p.His566Gln	coding	Pathogenic
1	94063213	G	C	G94063213C	ABCA4	NM_000350.3(ABCA4):c.1659C>G:p.Phe553Leu	coding	Pathogenic
1	94077692	C	A	C94077692A	ABCA4	NM_000350.3(ABCA4):c.1552G>T:p.Glu518Ter	coding	Pathogenic
1	94077715	A	G	A94077715G	ABCA4	NM_000350.3(ABCA4):c.1529T>C:p.Leu510Pro	coding	Pathogenic/Likely_pathogenic
1	94077853	A	T	A94077853T	ABCA4	NM_000350.3(ABCA4):c.1391T>A:p.Leu464Ter	coding	Pathogenic
1	94077879	C	T	C94077879T	ABCA4	NM_000350.3(ABCA4):c.1365G>A:p.Leu455=	coding	Benign
1	94077880	A	T	A94077880T	ABCA4	NM_000350.3(ABCA4):c.1364T>A:p.Leu455Gln	coding	Pathogenic
1	94078604	T	C	T94078604C	ABCA4	NM_000350.3(ABCA4):c.1342A>G:p.Met448Val	coding	Pathogenic
1	94078611	G	C	G94078611C	ABCA4	NM_000350.3(ABCA4):c.1335C>G:p.Ser445Arg	coding	Pathogenic/Likely_pathogenic
1	94078698	T	G	T94078698G	ABCA4	NM_000350.3(ABCA4):c.1248A>C:p.Ser416=	coding	Benign
1	94079329	A	G	A94079329G	ABCA4	NM_000350.3(ABCA4):c.1232T>C:p.Leu411Pro	coding	Pathogenic
1	94079350	G	C	G94079350C	ABCA4	NM_000350.3(ABCA4):c.1211C>G:p.Ser404Ter	coding	Pathogenic
1	94079475	A	G	A94079475G	ABCA4	NM_000350.3(ABCA4):c.1100-14T>C	noncoding	Benign
1	94079604	C	T	C94079604T	ABCA4	NM_000350.3(ABCA4):c.1100-143G>A	noncoding	Benign
1	94079647	A	C	A94079647C	ABCA4	NM_000350.3(ABCA4):c.1100-186T>G	noncoding	Benign
1	94080355	A	G	A94080355G	ABCA4	NM_000350.3(ABCA4):c.1099+123T>C	noncoding	Benign
1	94080555	T	C	T94080555C	ABCA4	NM_000350.3(ABCA4):c.1022A>G:p.Glu341Gly	coding	Pathogenic
1	94080570	G	C	G94080570C	ABCA4	NM_000350.3(ABCA4):c.1007C>G:p.Ser336Cys	coding	Pathogenic/Likely_pathogenic
1	94080571	A	G	A94080571G	ABCA4	NM_000350.3(ABCA4):c.1006T>C:p.Ser336Pro	coding	Pathogenic
1	94080644	G	A	G94080644A	ABCA4	NM_000350.3(ABCA4):c.933C>T:p.Thr311=	coding	Benign
1	94080651	G	C	G94080651C	ABCA4	NM_000350.3(ABCA4):c.926C>G:p.Pro309Arg	coding	Pathogenic/Likely_pathogenic
1	94080704	C	T	C94080704T	ABCA4	NM_000350.3(ABCA4):c.873G>A:p.Pro291=	coding	Benign/Likely_benign
1	94080708	C	T	C94080708T	ABCA4	NM_000350.3(ABCA4):c.869G>A:p.Arg290Gln	coding	Pathogenic
1	94080729	G	A	G94080729A	ABCA4	NM_000350.3(ABCA4):c.859-11C>T	noncoding	Benign
1	94081224	C	G	C94081224G	ABCA4	NM_000350.3(ABCA4):c.859-506G>C	noncoding	Pathogenic
1	94081264	C	T	C94081264T	ABCA4	NM_000350.3(ABCA4):c.859-546G>A	noncoding	Pathogenic
1	94083414	G	A	G94083414A	ABCA4	NM_000350.3(ABCA4):c.796C>T:p.Gln266Ter	coding	Pathogenic
1	94083527	T	C	T94083527C	ABCA4	NM_000350.3(ABCA4):c.769-86A>G	noncoding	Benign
1	94083705	A	G	A94083705G	ABCA4	NM_000350.3(ABCA4):c.769-264T>C	noncoding	Benign
1	94098360	T	C	T94098360C	ABCA4	NM_000350.3(ABCA4):c.768+434A>G	noncoding	Benign
1	94098732	G	A	G94098732A	ABCA4	NM_000350.3(ABCA4):c.768+62C>T	noncoding	Benign
1	94098833	A	G	A94098833G	ABCA4	NM_000350.3(ABCA4):c.729T>C:p.Thr243=	coding	Benign
1	94098850	G	A	G94098850A	ABCA4	NM_000350.3(ABCA4):c.712C>T:p.Gln238Ter	coding	Pathogenic
1	94100940	T	G	T94100940G	ABCA4	NM_000350.3(ABCA4):c.571-1949A>C	noncoding	Benign
1	94101007	G	A	G94101007A	ABCA4	NM_000350.3(ABCA4):c.570+2008C>T	noncoding	Benign
1	94101128	G	A	G94101128A	ABCA4	NM_000350.3(ABCA4):c.570+1887C>T	noncoding	Benign
1	94102935	A	G	A94102935G	ABCA4	NM_000350.3(ABCA4):c.570+80T>C	noncoding	Benign
1	94103115	A	T	A94103115T	ABCA4	NM_000350.3(ABCA4):c.470T>A:p.Leu157Ter	coding	Pathogenic
1	94103266	T	C	T94103266C	ABCA4	NM_000350.3(ABCA4):c.443-124A>G	noncoding	Benign
1	94103386	G	C	G94103386C	ABCA4	NM_000350.3(ABCA4):c.443-244C>G	noncoding	Benign
1	94108364	A	G	A94108364G	ABCA4	NM_000350.3(ABCA4):c.442+213T>C	noncoding	Benign
1	94108497	C	A	C94108497A	ABCA4	NM_000350.3(ABCA4):c.442+80G>T	noncoding	Benign
1	94108591	G	A	G94108591A	ABCA4	NM_000350.3(ABCA4):c.428C>T:p.Pro143Leu	coding	Pathogenic/Likely_pathogenic
1	94108635	C	T	C94108635T	ABCA4	NM_000350.3(ABCA4):c.384G>A:p.Glu128=	coding	Benign
1	94108691	G	A	G94108691A	ABCA4	NM_000350.3(ABCA4):c.328C>T:p.Gln110Ter	coding	Pathogenic
1	94111108	A	G	A94111108G	ABCA4	NM_000350.3(ABCA4):c.302+330T>C	noncoding	Benign
1	94111337	G	A	G94111337A	ABCA4	NM_000350.3(ABCA4):c.302+101C>T	noncoding	Benign
1	94111418	G	A	G94111418A	ABCA4	NM_000350.3(ABCA4):c.302+20C>T	noncoding	Benign
1	94111453	T	A	T94111453A	ABCA4	NM_000350.3(ABCA4):c.287A>T:p.Asn96Ile	coding	Pathogenic
1	94111506	G	A	G94111506A	ABCA4	NM_000350.3(ABCA4):c.234C>T:p.Asn78=	coding	Benign
1	94111511	C	T	C94111511T	ABCA4	NM_000350.3(ABCA4):c.229G>A:p.Val77Met	coding	Benign
1	94111517	A	C	A94111517C	ABCA4	NM_000350.3(ABCA4):c.223T>G:p.Cys75Gly	coding	Pathogenic
1	94111525	C	A	C94111525A	ABCA4	NM_000350.3(ABCA4):c.215G>T:p.Gly72Val	coding	Pathogenic
1	94111557	C	G	C94111557G	ABCA4	NM_000350.3(ABCA4):c.183G>C:p.Met61Ile	coding	Pathogenic
1	94111580	C	G	C94111580G	ABCA4	NM_000350.3(ABCA4):c.161-1G>C	coding	Pathogenic
1	94111854	C	T	C94111854T	ABCA4	NM_000350.3(ABCA4):c.161-275G>A	noncoding	Benign
1	94111867	C	T	C94111867T	ABCA4	NM_000350.3(ABCA4):c.161-288G>A	noncoding	Benign
1	94111906	G	T	G94111906T	ABCA4	NM_000350.3(ABCA4):c.161-327C>A	noncoding	Benign
1	94112695	C	T	C94112695T	ABCA4	NM_000350.3(ABCA4):c.160+278G>A	noncoding	Benign
1	94113077	A	C	A94113077C	ABCA4	NM_000350.3(ABCA4):c.67-11T>G	noncoding	Benign
1	94113207	C	T	C94113207T	ABCA4	NM_000350.3(ABCA4):c.67-141G>A	noncoding	Benign
1	94113216	C	T	C94113216T	ABCA4	NM_000350.3(ABCA4):c.67-150G>A	noncoding	Benign
1	94120772	C	T	C94120772T	ABCA4	NM_000350.3(ABCA4):c.66+208G>A	noncoding	Benign
1	94120980	C	A	C94120980A	ABCA4	NM_000350.3(ABCA4):c.66G>T:p.Lys22Asn	coding	Pathogenic
1	94120993	C	T	C94120993T	ABCA4	NM_000350.3(ABCA4):c.53G>A:p.Arg18Gln	coding	Pathogenic
1	94121002	C	T	C94121002T	ABCA4	NM_000350.3(ABCA4):c.44G>A:p.Trp15Ter	coding	Pathogenic
1	94121079	G	A	G94121079A	ABCA4	NM_000350.3(ABCA4):c.-34C>T	noncoding	Benign
1	94121086	C	A	C94121086A	ABCA4	NM_000350.3(ABCA4):c.-41G>T	noncoding	Benign
1	94121137	G	A	G94121137A	ABCA4	NM_000350.3(ABCA4):c.-92C>T	noncoding	Benign/Likely_benign
1	94121139	C	A	C94121139A	ABCA4	NM_000350.3(ABCA4):c.-94G>T	noncoding	Benign
1	94121288	G	A	G94121288A	ABCA4	Single_allele	noncoding	Benign
1	94121334	C	A	C94121334A	ABCA4	Single_allele	noncoding	Benign
1	94458592	T	C	T94458592C	ABCD3	NM_002858.4(ABCD3):c.111-15T>C	noncoding	Benign
1	94464884	T	C	T94464884C	ABCD3	NM_002858.4(ABCD3):c.246+11T>C	noncoding	Benign
1	94483191	T	C	T94483191C	ABCD3	NM_002858.4(ABCD3):c.849T>C:p.Asn283=	coding	Benign
1	94487601	T	C	T94487601C	ABCD3	NM_002858.4(ABCD3):c.957T>C:p.Ile319=	coding	Benign
1	94515115	C	G	C94515115G	ABCD3	NM_002858.4(ABCD3):c.1846-31C>G	noncoding	Benign
1	94517033	T	C	T94517033C	ABCD3	NM_002858.4(ABCD3):c.1903-19T>C	noncoding	Benign
1	94983477	T	C	T94983477C	ALG14	NM_144988.4(ALG14):c.421-171A>G	noncoding	Benign
1	95064855	T	C	T95064855C	ALG14	NM_144988.4(ALG14):c.288+11A>G	noncoding	Benign/Likely_benign
1	95065153	G	A	G95065153A	ALG14	NM_144988.4(ALG14):c.137-136C>T	noncoding	Benign
1	95073027	G	A	G95073027A	ALG14	Single_allele	noncoding	Benign
1	95073061	C	G	C95073061G	ALG14	Single_allele	noncoding	Benign
1	97079204	C	G	C97079204G	DPYD	NM_000110.4(DPYD):c.2908-58G>C	noncoding	Benign
1	97079215	T	C	T97079215C	DPYD	NM_000110.4(DPYD):c.2908-69A>G	noncoding	Benign
1	97082275	G	A	G97082275A	DPYD	NM_000110.4(DPYD):c.2907+55C>T	noncoding	Benign
1	97082803	C	T	C97082803T	DPYD	NM_000110.4(DPYD):c.2767-333G>A	noncoding	Benign
1	97192839	C	T	C97192839T	DPYD	NM_000110.4(DPYD):c.2622+230G>A	noncoding	Benign
1	97193206	C	T	C97193206T	DPYD	NM_000110.4(DPYD):c.2485G>A:p.Asp829Asn	coding	Benign
1	97234569	C	T	C97234569T	DPYD	NM_000110.4(DPYD):c.2442+283G>A	noncoding	Benign
1	97234689	T	C	T97234689C	DPYD	NM_000110.4(DPYD):c.2442+163A>G	noncoding	Benign
1	97235033	C	T	C97235033T	DPYD	NM_000110.4(DPYD):c.2300-39G>A	noncoding	Benign
1	97305381	A	G	A97305381G	DPYD	NM_000110.4(DPYD):c.2180-3T>C	noncoding	Benign/Likely_benign
1	97306391	C	A	C97306391A	DPYD	NM_000110.4(DPYD):c.2059-94G>T	noncoding	Benign
1	97373297	G	A	G97373297A	DPYD	NM_000110.4(DPYD):c.2058+264C>T	noncoding	Benign
1	97373298	C	T	C97373298T	DPYD	NM_000110.4(DPYD):c.2058+263G>A	noncoding	Benign
1	97373331	T	C	T97373331C	DPYD	NM_000110.4(DPYD):c.2058+230A>G	noncoding	Benign
1	97373416	A	G	A97373416G	DPYD	NM_000110.4(DPYD):c.2058+145T>C	noncoding	Benign
1	97373460	A	G	A97373460G	DPYD	NM_000110.4(DPYD):c.2058+101T>C	noncoding	Benign
1	97373857	C	G	C97373857G	DPYD	NM_000110.4(DPYD):c.1975-213G>C	noncoding	Benign
1	97382318	T	C	T97382318C	DPYD	NM_000110.4(DPYD):c.1974+75A>G	noncoding	Benign
1	97382485	T	G	T97382485G	DPYD	NM_000110.4(DPYD):c.1906-24A>C	noncoding	Benign
1	97382584	G	T	G97382584T	DPYD	NM_000110.4(DPYD):c.1906-123C>A	noncoding	Benign
1	97515686	T	C	T97515686C	DPYD	NM_000110.4(DPYD):c.1740+40A>G	noncoding	Benign
1	97515687	G	A	G97515687A	DPYD	NM_000110.4(DPYD):c.1740+39C>T	noncoding	Benign
1	97516031	C	T	C97516031T	DPYD	NM_000110.4(DPYD):c.1525-90G>A	noncoding	Benign
1	97516150	C	T	C97516150T	DPYD	NM_000110.4(DPYD):c.1525-209G>A	noncoding	Benign
1	97549384	C	A	C97549384A	DPYD	NM_000110.4(DPYD):c.1524+176G>T	noncoding	Benign
1	97549850	A	T	A97549850T	DPYD	NM_000110.4(DPYD):c.1340-106T>A	noncoding	Benign
1	97549925	G	T	G97549925T	DPYD	NM_000110.4(DPYD):c.1340-181C>A	noncoding	Benign
1	97594925	A	C	A97594925C	DPYD	NM_000110.4(DPYD):c.958+134T>G	noncoding	Benign
1	97595197	G	A	G97595197A	DPYD	NM_000110.4(DPYD):c.851-31C>T	noncoding	Benign
1	97595421	T	C	T97595421C	DPYD	NM_000110.4(DPYD):c.851-255A>G	noncoding	Benign
1	97679054	A	G	A97679054G	DPYD	NM_000110.4(DPYD):c.850+41T>C	noncoding	Benign
1	97679300	T	C	T97679300C	DPYD	NM_000110.4(DPYD):c.763-118A>G	noncoding	Benign
1	97692035	C	T	C97692035T	DPYD	NM_000110.4(DPYD):c.681-237G>A	noncoding	Benign
1	97699212	C	T	C97699212T	DPYD	NM_000110.4(DPYD):c.680+139G>A	noncoding	Benign
1	97720673	T	C	T97720673C	DPYD	NM_000110.4(DPYD):c.483+837A>G	coding	Benign
1	97721529	A	T	A97721529T	DPYD	NM_000110.4(DPYD):c.464T>A:p.Leu155Ter	coding	Pathogenic
1	97740456	G	A	G97740456A	DPYD	NM_000110.4(DPYD):c.257C>T:p.Pro86Leu	coding	Pathogenic/Likely_pathogenic
1	97828198	T	G	T97828198G	DPYD	NM_000110.4(DPYD):c.151-2A>C	noncoding	Pathogenic
1	97921165	C	T	C97921165T	DPYD	Single_allele	noncoding	Benign
1	97921399	A	C	A97921399C	DPYD	Single_allele	noncoding	Benign
1	99861514	C	T	C99861514T	AGL	NM_000642.3(AGL):c.94C>T:p.Gln32Ter	coding	Pathogenic/Likely_pathogenic
1	99861524	T	G	T99861524G	AGL	NM_000642.3(AGL):c.104T>G:p.Leu35Ter	coding	Pathogenic/Likely_pathogenic
1	99862255	A	T	A99862255T	AGL	NM_000642.3(AGL):c.294-2A>T	noncoding	Pathogenic/Likely_pathogenic
1	99864115	A	G	A99864115G	AGL	NM_000642.3(AGL):c.461-271A>G	noncoding	Benign
1	99864269	G	T	G99864269T	AGL	NM_000642.3(AGL):c.461-117G>T	noncoding	Benign
1	99864538	A	T	A99864538T	AGL	NM_000642.3(AGL):c.613A>T:p.Lys205Ter	coding	Pathogenic
1	99870327	A	G	A99870327G	AGL	NM_000642.3(AGL):c.665-73A>G	noncoding	Benign
1	99870420	C	T	C99870420T	AGL	NM_000642.3(AGL):c.685C>T:p.Gln229Ter	coding	Pathogenic
1	99870866	C	T	C99870866T	AGL	NM_000642.3(AGL):c.955C>T:p.Gln319Ter	coding	Pathogenic
1	99871069	C	T	C99871069T	AGL	NM_000642.3(AGL):c.958+200C>T	noncoding	Benign
1	99874517	A	G	A99874517G	AGL	NM_000642.3(AGL):c.959-170A>G	noncoding	Benign
1	99874806	C	T	C99874806T	AGL	NM_000642.3(AGL):c.1078C>T:p.His360Tyr	coding	Pathogenic/Likely_pathogenic
1	99874992	A	G	A99874992G	AGL	NM_000642.3(AGL):c.1083-162A>G	noncoding	Benign
1	99875153	G	A	G99875153A	AGL	NM_000642.3(AGL):c.1083-1G>A	noncoding	Pathogenic
1	99875415	A	T	A99875415T	AGL	NM_000642.3(AGL):c.1243A>T:p.Lys415Ter	coding	Pathogenic
1	99876557	G	A	G99876557A	AGL	NM_000642.3(AGL):c.1383G>A:p.Trp461Ter	coding	Pathogenic
1	99876579	C	T	C99876579T	AGL	NM_000642.3(AGL):c.1405C>T:p.Arg469Ter	coding	Pathogenic/Likely_pathogenic
1	99876671	C	T	C99876671T	AGL	NM_000642.3(AGL):c.1423+74C>T	noncoding	Benign
1	99877517	T	A	T99877517A	AGL	NM_000642.3(AGL):c.1424-124T>A	noncoding	Benign
1	99879853	C	G	C99879853G	AGL	NM_000642.3(AGL):c.1612-70C>G	noncoding	Benign
1	99879950	C	T	C99879950T	AGL	NM_000642.3(AGL):c.1639C>T:p.Gln547Ter	coding	Pathogenic
1	99880419	C	T	C99880419T	AGL	NM_000642.3(AGL):c.1736-213C>T	noncoding	Benign
1	99880684	T	G	T99880684G	AGL	NM_000642.3(AGL):c.1788T>G:p.Tyr596Ter	coding	Pathogenic
1	99880776	A	G	A99880776G	AGL	NM_000642.3(AGL):c.1880A>G:p.Asp627Gly	coding	Benign
1	99881575	C	T	C99881575T	AGL	NM_000642.3(AGL):c.2192C>T:p.Ala731Val	coding	Benign
1	99884246	T	C	T99884246C	AGL	NM_000642.3(AGL):c.2433+2T>C	noncoding	Pathogenic
1	99884402	C	T	C99884402T	AGL	NM_000642.3(AGL):c.2497C>T:p.Gln833Ter	coding	Pathogenic
1	99884627	C	T	C99884627T	AGL	NM_000642.3(AGL):c.2605C>T:p.Gln869Ter	coding	Pathogenic/Likely_pathogenic
1	99884708	G	C	G99884708C	AGL	NM_000642.3(AGL):c.2681+5G>C	noncoding	Pathogenic
1	99884827	G	A	G99884827A	AGL	NM_000642.3(AGL):c.2681+124G>A	noncoding	Benign
1	99891301	G	A	G99891301A	AGL	NM_000642.3(AGL):c.2894G>A:p.Trp965Ter	coding	Pathogenic/Likely_pathogenic
1	99891376	C	T	C99891376T	AGL	NM_000642.3(AGL):c.2949+20C>T	noncoding	Benign/Likely_benign
1	99891485	A	G	A99891485G	AGL	NM_000642.3(AGL):c.2950-121A>G	noncoding	Benign
1	99891605	G	C	G99891605C	AGL	NM_000642.3(AGL):c.2950-1G>C	noncoding	Pathogenic
1	99892562	G	T	G99892562T	AGL	NM_000642.3(AGL):c.3214G>T:p.Glu1072Ter	coding	Pathogenic
1	99892583	C	T	C99892583T	AGL	NM_000642.3(AGL):c.3235C>T:p.Gln1079Ter	coding	Pathogenic/Likely_pathogenic
1	99892608	G	A	G99892608A	AGL	NM_000642.3(AGL):c.3259+1G>A	coding	Pathogenic
1	99896323	G	A	G99896323A	AGL	NM_000642.3(AGL):c.3297G>A:p.Trp1099Ter	coding	Pathogenic/Likely_pathogenic
1	99896389	G	A	G99896389A	AGL	NM_000642.3(AGL):c.3362+1G>A	coding	Pathogenic/Likely_pathogenic
1	99896390	T	C	T99896390C	AGL	NM_000642.3(AGL):c.3362+2T>C	noncoding	Pathogenic
1	99900647	T	G	T99900647G	AGL	NM_000642.3(AGL):c.3374T>G:p.Leu1125Ter	coding	Pathogenic
1	99900757	C	T	C99900757T	AGL	NM_000642.3(AGL):c.3484C>T:p.Gln1162Ter	coding	Pathogenic
1	99902335	G	A	G99902335A	AGL	NM_000642.3(AGL):c.3589-348G>A	noncoding	Benign
1	99902791	G	T	G99902791T	AGL	NM_000642.3(AGL):c.3697G>T:p.Glu1233Ter	coding	Pathogenic
1	99910900	T	A	T99910900A	AGL	NM_000642.3(AGL):c.3836+53T>A	noncoding	Benign
1	99912496	G	T	G99912496T	AGL	NM_000642.3(AGL):c.3928G>T:p.Glu1310Ter	coding	Pathogenic
1	99912811	A	T	A99912811T	AGL	NM_000642.3(AGL):c.3949+294A>T	noncoding	Benign
1	99913604	G	T	G99913604T	AGL	NM_000642.3(AGL):c.4027G>T:p.Glu1343Ter	coding	Pathogenic
1	99913692	G	A	G99913692A	AGL	NM_000642.3(AGL):c.4115G>A:p.Trp1372Ter	coding	Pathogenic
1	99913703	C	T	C99913703T	AGL	NM_000642.3(AGL):c.4126C>T:p.Gln1376Ter	coding	Pathogenic/Likely_pathogenic
1	99916259	G	T	G99916259T	AGL	NM_000642.3(AGL):c.4260-151G>T	noncoding	Benign
1	99916313	G	A	G99916313A	AGL	NM_000642.3(AGL):c.4260-97G>A	noncoding	Benign
1	99916461	C	G	C99916461G	AGL	NM_000642.3(AGL):c.4311C>G:p.Tyr1437Ter	coding	Pathogenic
1	99916602	G	A	G99916602A	AGL	NM_000642.3(AGL):c.4352G>A:p.Trp1451Ter	coding	Pathogenic
1	99970124	C	T	C99970124T	SLC35A3	NM_012243.3(SLC35A3):c.-57C>T	noncoding	Benign
1	99970577	A	G	A99970577G	SLC35A3	NM_012243.3(SLC35A3):c.-19+415A>G	coding	Benign
1	99970859	T	C	T99970859C	SLC35A3	NM_012243.3(SLC35A3):c.-19+697T>C	noncoding	Benign
1	99993465	C	T	C99993465T	SLC35A3	NM_012243.3(SLC35A3):c.-18-72C>T	noncoding	Benign
1	99993536	G	T	G99993536T	SLC35A3	NM_012243.3(SLC35A3):c.-18-1G>T	noncoding	Pathogenic
1	99993575	C	G	C99993575G	SLC35A3	NM_012243.3(SLC35A3):c.21C>G:p.Tyr7Ter	coding	Pathogenic
1	99993627	C	T	C99993627T	SLC35A3	NM_012243.3(SLC35A3):c.73C>T:p.Arg25Cys	coding	Pathogenic
1	99993628	G	T	G99993628T	SLC35A3	NM_012243.3(SLC35A3):c.74G>T:p.Arg25Leu	coding	Pathogenic
1	99993820	A	G	A99993820G	SLC35A3	NM_012243.3(SLC35A3):c.187+79A>G	noncoding	Benign
1	99999072	T	C	T99999072C	SLC35A3	NM_012243.3(SLC35A3):c.188-189T>C	noncoding	Benign
1	99999082	C	T	C99999082T	SLC35A3	NM_012243.3(SLC35A3):c.188-179C>T	noncoding	Benign
1	99999284	C	T	C99999284T	SLC35A3	NM_012243.3(SLC35A3):c.211C>T:p.Arg71Ter	coding	Pathogenic
1	100011106	G	A	G100011106A	SLC35A3	NM_012243.3(SLC35A3):c.466-259G>A	noncoding	Benign
1	100011259	T	G	T100011259G	SLC35A3	NM_012243.3(SLC35A3):c.466-106T>G	noncoding	Benign
1	100011494	G	T	G100011494T	SLC35A3	NM_012243.3(SLC35A3):c.595G>T:p.Glu199Ter	coding	Pathogenic
1	100015152	C	T	C100015152T	SLC35A3	NM_012243.3(SLC35A3):c.635-150C>T	noncoding	Benign
1	100015157	C	A	C100015157A	SLC35A3	NM_012243.3(SLC35A3):c.635-145C>A	noncoding	Benign
1	100015606	C	A	C100015606A	SLC35A3	NM_012243.3(SLC35A3):c.753+186C>A	noncoding	Benign
1	100017453	C	A	C100017453A	SLC35A3	NM_012243.3(SLC35A3):c.754-229C>A	noncoding	Benign
1	100017657	A	G	A100017657G	SLC35A3	NM_012243.3(SLC35A3):c.754-25A>G	noncoding	Benign
1	100017770	C	A	C100017770A	SLC35A3	NM_012243.3(SLC35A3):c.842C>A:p.Ser281Ter	coding	Pathogenic
1	100022621	C	T	C100022621T	SLC35A3	NM_012243.3(SLC35A3):c.*145C>T	noncoding	Benign
1	100085885	A	G	A100085885G	SASS6	NM_194292.3(SASS6):c.1773-255T>C	noncoding	Benign
1	100103203	C	G	C100103203G	SASS6	NM_194292.3(SASS6):c.1546-120G>C	noncoding	Benign
1	100106152	T	C	T100106152C	SASS6	NM_194292.3(SASS6):c.1409-249A>G	noncoding	Benign
1	100106903	C	T	C100106903T	SASS6	NM_194292.3(SASS6):c.1408+9G>A	noncoding	Benign
1	100107327	C	G	C100107327G	SASS6	NM_194292.3(SASS6):c.1326+47G>C	noncoding	Benign
1	100107754	T	G	T100107754G	SASS6	NM_194292.3(SASS6):c.1057-37A>C	noncoding	Benign
1	100107933	G	A	G100107933A	SASS6	NM_194292.3(SASS6):c.933C>T:p.His311=	coding	Benign
1	100108309	T	A	T100108309A	SASS6	NM_194292.3(SASS6):c.862-305A>T	noncoding	Benign
1	100110060	G	A	G100110060A	SASS6	NM_194292.3(SASS6):c.861+232C>T	noncoding	Benign
1	100110123	T	C	T100110123C	SASS6	NM_194292.3(SASS6):c.861+169A>G	noncoding	Benign
1	100110377	G	A	G100110377A	SASS6	NM_194292.3(SASS6):c.776C>T:p.Ala259Val	coding	Benign
1	100119190	A	C	A100119190C	SASS6	NM_194292.3(SASS6):c.550-53T>G	noncoding	Benign
1	100120115	C	T	C100120115T	SASS6	NM_194292.3(SASS6):c.549+279G>A	noncoding	Benign
1	100120162	G	A	G100120162A	SASS6	NM_194292.3(SASS6):c.549+232C>T	noncoding	Benign
1	100120373	A	G	A100120373G	SASS6	NM_194292.3(SASS6):c.549+21T>C	noncoding	Benign
1	100120576	C	G	C100120576G	SASS6	NM_194292.3(SASS6):c.484-117G>C	noncoding	Benign
1	100121149	T	C	T100121149C	SASS6	NM_194292.3(SASS6):c.483+229A>G	noncoding	Benign
1	100121590	T	C	T100121590C	SASS6	NM_194292.3(SASS6):c.312-41A>G	noncoding	Benign
1	100121694	A	C	A100121694C	SASS6	NM_194292.3(SASS6):c.312-145T>G	noncoding	Benign
1	100123018	T	C	T100123018C	SASS6	NM_194292.3(SASS6):c.206+192A>G	noncoding	Benign
1	100132743	A	G	A100132743G	SASS6	NM_194292.3(SASS6):c.65+7T>C	noncoding	Benign
1	100132883	G	C	G100132883C	SASS6	NM_194292.3(SASS6):c.-69C>G	noncoding	Benign
1	100133310	G	A	G100133310A	SASS6	NM_019083.3(TRMT13):c.142G>A:p.Ala48Thr	coding	Benign
1	100133311	C	T	C100133311T	SASS6	NM_019083.3(TRMT13):c.143C>T:p.Ala48Val	coding	Benign
1	100186848	C	T	C100186848T	DBT	Single_allele	noncoding	Benign
1	100196319	C	G	C100196319G	DBT	NM_001918.5(DBT):c.1385G>C:p.Arg462Pro	coding	Pathogenic
1	100196380	G	A	G100196380A	DBT	NM_001918.5(DBT):c.1324C>T:p.Gln442Ter	coding	Pathogenic
1	100206228	A	T	A100206228T	DBT	NM_001918.5(DBT):c.1281+2T>A	noncoding	Pathogenic
1	100206279	G	A	G100206279A	DBT	NM_001918.5(DBT):c.1232C>T:p.Pro411Leu	coding	Pathogenic
1	100206312	A	T	A100206312T	DBT	NM_001918.5(DBT):c.1210-11T>A	noncoding	Benign/Likely_benign
1	100215215	A	T	A100215215T	DBT	NM_001918.5(DBT):c.773-232T>A	noncoding	Benign
1	100216121	G	A	G100216121A	DBT	NM_001918.5(DBT):c.634C>T:p.Gln212Ter	coding	Pathogenic/Likely_pathogenic
1	100219031	A	C	A100219031C	DBT	NM_001918.5(DBT):c.434-284T>G	noncoding	Benign
1	100230862	G	A	G100230862A	DBT	NM_001918.5(DBT):c.304C>T:p.Gln102Ter	coding	Pathogenic
1	100235239	A	G	A100235239G	DBT	NM_001918.5(DBT):c.251+197T>C	noncoding	Benign
1	100235481	A	G	A100235481G	DBT	NM_001918.5(DBT):c.206T>C:p.Leu69Pro	coding	Pathogenic/Likely_pathogenic
1	100240885	C	G	C100240885G	DBT	NM_001918.5(DBT):c.52-1G>C	coding	Pathogenic
1	100240885	C	T	C100240885T	DBT	NM_001918.5(DBT):c.52-1G>A	coding	Pathogenic
1	100249792	C	T	C100249792T	DBT	NM_001918.5(DBT):c.29G>A:p.Trp10Ter	coding	Pathogenic
1	100249820	T	C	T100249820C	DBT	NM_001918.5(DBT):c.1A>G:p.Met1Val	coding	Pathogenic
1	100249898	G	A	G100249898A	DBT	Single_allele	noncoding	Benign
1	100250019	A	T	A100250019T	DBT	Single_allele	noncoding	Benign
1	100250192	C	G	C100250192G	DBT	Single_allele	noncoding	Benign
1	100352622	G	C	G100352622C	CDC14A	NM_003672.4(CDC14A):c.-333G>C	noncoding	Benign
1	100352730	A	T	A100352730T	CDC14A	NM_003672.4(CDC14A):c.-225A>T	noncoding	Benign
1	100352908	T	C	T100352908C	CDC14A	NM_003672.4(CDC14A):c.-47T>C	noncoding	Benign
1	100353172	T	G	T100353172G	CDC14A	NM_003672.4(CDC14A):c.49+169T>G	noncoding	Benign
1	100390469	T	A	T100390469A	CDC14A	NM_003672.4(CDC14A):c.217-263T>A	noncoding	Benign
1	100390923	C	T	C100390923T	CDC14A	NM_003672.4(CDC14A):c.309+99C>T	noncoding	Benign
1	100390969	A	G	A100390969G	CDC14A	NM_003672.4(CDC14A):c.309+145A>G	noncoding	Benign
1	100391091	A	T	A100391091T	CDC14A	NM_003672.4(CDC14A):c.309+267A>T	noncoding	Benign
1	100414772	A	T	A100414772T	CDC14A	NM_003672.4(CDC14A):c.310-9450A>T	noncoding	Benign
1	100424204	A	G	A100424204G	CDC14A	NM_003672.4(CDC14A):c.310-18A>G	noncoding	Benign
1	100440013	C	G	C100440013G	CDC14A	NM_003672.4(CDC14A):c.456+15C>G	noncoding	Benign
1	100440013	C	T	C100440013T	CDC14A	NM_003672.4(CDC14A):c.456+15C>T	noncoding	Benign/Likely_benign
1	100442768	A	G	A100442768G	CDC14A	NM_003672.4(CDC14A):c.457-166A>G	noncoding	Benign
1	100442948	A	C	A100442948C	CDC14A	NM_003672.4(CDC14A):c.471A>C:p.Gly157=	coding	Benign
1	100443021	A	T	A100443021T	CDC14A	NM_003672.4(CDC14A):c.519+25A>T	noncoding	Benign
1	100443078	T	C	T100443078C	CDC14A	NM_003672.4(CDC14A):c.519+82T>C	noncoding	Benign
1	100443122	G	T	G100443122T	CDC14A	NM_003672.4(CDC14A):c.519+126G>T	noncoding	Benign
1	100443170	A	G	A100443170G	CDC14A	NM_003672.4(CDC14A):c.519+174A>G	noncoding	Benign
1	100455389	T	C	T100455389C	CDC14A	NM_003672.4(CDC14A):c.520-16T>C	noncoding	Benign/Likely_benign
1	100455634	A	G	A100455634G	CDC14A	NM_003672.4(CDC14A):c.607+142A>G	noncoding	Benign
1	100462499	G	T	G100462499T	CDC14A	NM_003672.4(CDC14A):c.608-152G>T	noncoding	Benign
1	100462760	C	T	C100462760T	CDC14A	NM_003672.4(CDC14A):c.717C>T:p.Asp239=	coding	Benign/Likely_benign
1	100462821	G	A	G100462821A	CDC14A	NM_003672.4(CDC14A):c.778G>A:p.Val260Met	coding	Benign
1	100463039	C	T	C100463039T	CDC14A	NM_003672.4(CDC14A):c.838+158C>T	noncoding	Benign
1	100463150	C	T	C100463150T	CDC14A	NM_003672.4(CDC14A):c.838+269C>T	noncoding	Benign
1	100467832	T	C	T100467832C	CDC14A	NM_003672.4(CDC14A):c.839-124T>C	noncoding	Benign
1	100468051	C	G	C100468051G	CDC14A	NM_003672.4(CDC14A):c.934C>G:p.Arg312Gly	coding	Pathogenic/Likely_pathogenic
1	100468119	C	A	C100468119A	CDC14A	NM_003672.4(CDC14A):c.977+25C>A	noncoding	Benign
1	100468156	C	A	C100468156A	CDC14A	NM_003672.4(CDC14A):c.977+62C>A	noncoding	Benign
1	100484348	G	A	G100484348A	CDC14A	NM_003672.4(CDC14A):c.1034G>A:p.Arg345Gln	coding	Benign
1	100484404	A	G	A100484404G	CDC14A	NM_003672.4(CDC14A):c.1090A>G:p.Ile364Val	coding	Benign/Likely_benign
1	100494485	G	T	G100494485T	CDC14A	NM_003672.4(CDC14A):c.1138-333G>T	noncoding	Benign
1	100495863	A	G	A100495863G	CDC14A	NM_003672.4(CDC14A):c.1251-139A>G	noncoding	Benign
1	100497820	T	C	T100497820C	CDC14A	NM_003672.4(CDC14A):c.1299-265T>C	noncoding	Benign
1	100497862	T	G	T100497862G	CDC14A	NM_003672.4(CDC14A):c.1299-223T>G	noncoding	Benign
1	100499111	A	G	A100499111G	CDC14A	NM_003672.4(CDC14A):c.1604A>G:p.Gln535Arg	coding	Benign/Likely_benign
1	100518067	G	A	G100518067A	CDC14A	NM_003672.4(CDC14A):c.1756-184G>A	noncoding	Benign
1	100518536	T	C	T100518536C	CDC14A	NM_003672.4(CDC14A):c.*256T>C	noncoding	Benign
1	100539534	G	A	G100539534A	GPR88	NM_022049.3(GPR88):c.568G>A:p.Val190Ile	coding	Benign
1	100539869	G	A	G100539869A	GPR88	NM_022049.3(GPR88):c.903G>A:p.Val301=	coding	Benign
1	100912233	G	A	G100912233A	SLC30A7	NM_133496.5(SLC30A7):c.506G>A:p.Gly169Asp	coding	Benign
1	100990487	T	C	T100990487C	DPH5	NM_015958.3(DPH5):c.779A>G:p.His260Arg	coding	Pathogenic
1	100992652	G	A	G100992652A	DPH5	NM_015958.3(DPH5):c.619C>T:p.Arg207Ter	coding	Pathogenic
1	101013750	T	C	T101013750C	DPH5	NM_015958.3(DPH5):c.329A>G:p.Asn110Ser	coding	Pathogenic
1	102878115	A	G	A102878115G	COL11A1	NM_001854.4(COL11A1):c.5325T>C:p.Ile1775=	coding	Benign/Likely_benign
1	102879422	T	C	T102879422C	COL11A1	NM_001854.4(COL11A1):c.5274+261A>G	noncoding	Benign
1	102879586	G	A	G102879586A	COL11A1	NM_001854.4(COL11A1):c.5274+97C>T	noncoding	Benign
1	102881752	G	C	G102881752C	COL11A1	NM_001854.4(COL11A1):c.4985C>G:p.Ser1662Ter	coding	Pathogenic
1	102881792	T	C	T102881792C	COL11A1	NM_001854.4(COL11A1):c.4972-27A>G	noncoding	Benign
1	102881860	A	G	A102881860G	COL11A1	NM_001854.4(COL11A1):c.4972-95T>C	noncoding	Benign
1	102881959	T	C	T102881959C	COL11A1	NM_001854.4(COL11A1):c.4972-194A>G	noncoding	Benign
1	102882983	G	T	G102882983T	COL11A1	NM_001854.4(COL11A1):c.4971+216C>A	noncoding	Benign
1	102883097	A	T	A102883097T	COL11A1	NM_001854.4(COL11A1):c.4971+102T>A	noncoding	Benign
1	102883554	G	T	G102883554T	COL11A1	NM_001854.4(COL11A1):c.4859-243C>A	noncoding	Benign
1	102887217	C	T	C102887217T	COL11A1	NM_001854.4(COL11A1):c.4609-161G>A	noncoding	Benign
1	102887245	G	A	G102887245A	COL11A1	NM_001854.4(COL11A1):c.4609-189C>T	noncoding	Benign
1	102888344	A	T	A102888344T	COL11A1	NM_001854.4(COL11A1):c.4608+233T>A	noncoding	Benign
1	102888377	G	T	G102888377T	COL11A1	NM_001854.4(COL11A1):c.4608+200C>A	noncoding	Benign
1	102888378	C	T	C102888378T	COL11A1	NM_001854.4(COL11A1):c.4608+199G>A	noncoding	Benign
1	102888435	T	A	T102888435A	COL11A1	NM_001854.4(COL11A1):c.4608+142A>T	noncoding	Benign
1	102888760	T	C	T102888760C	COL11A1	NM_001854.4(COL11A1):c.4519-2A>G	noncoding	Pathogenic
1	102888936	C	T	C102888936T	COL11A1	NM_001854.4(COL11A1):c.4465-17G>A	noncoding	Benign
1	102889666	A	C	A102889666C	COL11A1	NM_001854.4(COL11A1):c.4357-104T>G	noncoding	Benign
1	102889782	A	G	A102889782G	COL11A1	NM_001854.4(COL11A1):c.4357-220T>C	noncoding	Benign
1	102890209	A	C	A102890209C	COL11A1	NM_001854.4(COL11A1):c.4356+242T>G	noncoding	Benign
1	102890526	A	C	A102890526C	COL11A1	NM_001854.4(COL11A1):c.4303-22T>G	noncoding	Benign
1	102890612	A	C	A102890612C	COL11A1	NM_001854.4(COL11A1):c.4303-108T>G	noncoding	Benign
1	102890680	T	C	T102890680C	COL11A1	NM_001854.4(COL11A1):c.4303-176A>G	noncoding	Benign
1	102898030	C	A	C102898030A	COL11A1	NM_001854.4(COL11A1):c.4302+95G>T	noncoding	Benign
1	102898033	A	G	A102898033G	COL11A1	NM_001854.4(COL11A1):c.4302+92T>C	noncoding	Benign
1	102898344	A	C	A102898344C	COL11A1	NM_001854.4(COL11A1):c.4249-166T>G	noncoding	Benign
1	102898564	T	G	T102898564G	COL11A1	NM_001854.4(COL11A1):c.4248+102A>C	noncoding	Benign
1	102898840	C	T	C102898840T	COL11A1	NM_001854.4(COL11A1):c.4141-67G>A	noncoding	Benign
1	102898853	A	T	A102898853T	COL11A1	NM_001854.4(COL11A1):c.4141-80T>A	noncoding	Benign
1	102899062	A	T	A102899062T	COL11A1	NM_001854.4(COL11A1):c.4087-68T>A	noncoding	Benign
1	102899139	G	A	G102899139A	COL11A1	NM_001854.4(COL11A1):c.4087-145C>T	noncoding	Benign
1	102899209	A	T	A102899209T	COL11A1	NM_001854.4(COL11A1):c.4087-215T>A	noncoding	Benign
1	102912391	C	T	C102912391T	COL11A1	NM_001854.4(COL11A1):c.4033-179G>A	noncoding	Benign
1	102912412	A	C	A102912412C	COL11A1	NM_001854.4(COL11A1):c.4033-200T>G	noncoding	Benign
1	102913448	A	C	A102913448C	COL11A1	NM_001854.4(COL11A1):c.4032+189T>G	noncoding	Benign
1	102913621	T	C	T102913621C	COL11A1	NM_001854.4(COL11A1):c.4032+16A>G	noncoding	Benign
1	102913864	C	T	C102913864T	COL11A1	NM_001854.4(COL11A1):c.3979-174G>A	noncoding	Benign
1	102914416	G	A	G102914416A	COL11A1	NM_001854.4(COL11A1):c.3925-11C>T	noncoding	Benign/Likely_benign
1	102914421	G	A	G102914421A	COL11A1	NM_001854.4(COL11A1):c.3925-16C>T	noncoding	Benign/Likely_benign
1	102914572	G	A	G102914572A	COL11A1	NM_001854.4(COL11A1):c.3924+132C>T	noncoding	Benign
1	102914837	G	A	G102914837A	COL11A1	NM_001854.4(COL11A1):c.3817-26C>T	noncoding	Benign
1	102915573	C	T	C102915573T	COL11A1	NM_001854.4(COL11A1):c.3816+58G>A	noncoding	Benign
1	102915740	T	C	T102915740C	COL11A1	NM_001854.4(COL11A1):c.3763-56A>G	noncoding	Benign
1	102920097	G	A	G102920097A	COL11A1	NM_001854.4(COL11A1):c.3762+214C>T	noncoding	Benign
1	102920333	G	C	G102920333C	COL11A1	NM_001854.4(COL11A1):c.3740C>G:p.Ser1247Ter	coding	Pathogenic
1	102923608	T	G	T102923608G	COL11A1	NM_001854.4(COL11A1):c.3601-219A>C	noncoding	Benign
1	102923692	C	A	C102923692A	COL11A1	NM_001854.4(COL11A1):c.3601-303G>T	noncoding	Benign
1	102934350	G	A	G102934350A	COL11A1	NM_001854.4(COL11A1):c.3600+99C>T	noncoding	Benign
1	102934758	T	C	T102934758C	COL11A1	NM_001854.4(COL11A1):c.3493-202A>G	noncoding	Benign
1	102934777	A	G	A102934777G	COL11A1	NM_001854.4(COL11A1):c.3493-221T>C	noncoding	Benign
1	102934843	C	T	C102934843T	COL11A1	NM_001854.4(COL11A1):c.3492+217G>A	noncoding	Benign
1	102934935	G	A	G102934935A	COL11A1	NM_001854.4(COL11A1):c.3492+125C>T	noncoding	Benign
1	102934936	A	T	A102934936T	COL11A1	NM_001854.4(COL11A1):c.3492+124T>A	noncoding	Benign
1	102938760	C	A	C102938760A	COL11A1	NM_001854.4(COL11A1):c.3438+275G>T	noncoding	Benign
1	102938828	T	C	T102938828C	COL11A1	NM_001854.4(COL11A1):c.3438+207A>G	noncoding	Benign
1	102940237	G	A	G102940237A	COL11A1	NM_001854.4(COL11A1):c.3384+90C>T	noncoding	Benign
1	102940419	G	A	G102940419A	COL11A1	NM_001854.4(COL11A1):c.3292C>T:p.Gln1098Ter	coding	Pathogenic
1	102946522	C	T	C102946522T	COL11A1	NM_001854.4(COL11A1):c.3276+327G>A	noncoding	Benign
1	102946611	A	C	A102946611C	COL11A1	NM_001854.4(COL11A1):c.3276+238T>G	noncoding	Benign
1	102947096	A	G	A102947096G	COL11A1	NM_001854.4(COL11A1):c.3169-140T>C	noncoding	Benign
1	102947130	A	G	A102947130G	COL11A1	NM_001854.4(COL11A1):c.3169-174T>C	noncoding	Benign
1	102962438	A	T	A102962438T	COL11A1	NM_001854.4(COL11A1):c.3025-173T>A	noncoding	Benign
1	102962640	A	G	A102962640G	COL11A1	NM_001854.4(COL11A1):c.3024+13T>C	noncoding	Benign/Likely_benign
1	102962752	G	A	G102962752A	COL11A1	NM_001854.4(COL11A1):c.2925C>T:p.Thr975=	coding	Benign/Likely_benign
1	102962998	C	T	C102962998T	COL11A1	NM_001854.4(COL11A1):c.2917-238G>A	noncoding	Benign
1	102970070	G	A	G102970070A	COL11A1	NM_001854.4(COL11A1):c.2862+149C>T	noncoding	Benign
1	102974829	C	T	C102974829T	COL11A1	NM_001854.4(COL11A1):c.2808+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	102974885	T	C	T102974885C	COL11A1	NM_001854.4(COL11A1):c.2755-2A>G	noncoding	Pathogenic
1	102978614	C	T	C102978614T	COL11A1	NM_001854.4(COL11A1):c.2754+94G>A	noncoding	Benign
1	102978907	G	A	G102978907A	COL11A1	NM_001854.4(COL11A1):c.2662C>T:p.Arg888Ter	coding	Pathogenic
1	102979389	C	T	C102979389T	COL11A1	NM_001854.4(COL11A1):c.2603G>A:p.Gly868Asp	coding	Pathogenic
1	102979667	G	A	G102979667A	COL11A1	NM_001854.4(COL11A1):c.2557-232C>T	noncoding	Benign
1	102984304	G	T	G102984304T	COL11A1	NM_001854.4(COL11A1):c.2503-113C>A	noncoding	Benign
1	102987577	A	G	A102987577G	COL11A1	NM_001854.4(COL11A1):c.2502+56T>C	noncoding	Benign
1	102989312	A	G	A102989312G	COL11A1	NM_001854.4(COL11A1):c.2394+206T>C	noncoding	Benign
1	102995879	T	G	T102995879G	COL11A1	NM_001854.4(COL11A1):c.2325A>C:p.Gly775=	coding	Benign
1	102996830	T	C	T102996830C	COL11A1	NM_001854.4(COL11A1):c.2241+250A>G	noncoding	Benign
1	102996917	A	G	A102996917G	COL11A1	NM_001854.4(COL11A1):c.2241+163T>C	noncoding	Benign
1	102998068	G	A	G102998068A	COL11A1	NM_001854.4(COL11A1):c.2196+242C>T	noncoding	Benign
1	102998505	T	A	T102998505A	COL11A1	NM_001854.4(COL11A1):c.2143-142A>T	noncoding	Benign
1	103001778	A	G	A103001778G	COL11A1	NM_001854.4(COL11A1):c.2142+147T>C	noncoding	Benign
1	103002040	A	G	A103002040G	COL11A1	NM_001854.4(COL11A1):c.2098-71T>C	noncoding	Benign
1	103002750	G	A	G103002750A	COL11A1	NM_001854.4(COL11A1):c.2040C>T:p.Asn680=	coding	Benign/Likely_benign
1	103003053	A	G	A103003053G	COL11A1	NM_001854.4(COL11A1):c.1998+162T>C	noncoding	Benign
1	103004655	G	A	G103004655A	COL11A1	NM_001854.4(COL11A1):c.1852C>T:p.Arg618Ter	coding	Pathogenic
1	103006282	T	C	T103006282C	COL11A1	NM_001854.4(COL11A1):c.1717A>G:p.Thr573Ala	coding	Benign
1	103014831	T	C	T103014831C	COL11A1	NM_001854.4(COL11A1):c.1489-237A>G	noncoding	Benign
1	103015393	C	T	C103015393T	COL11A1	NM_001854.4(COL11A1):c.1488+275G>A	noncoding	Benign
1	103018081	G	A	G103018081A	COL11A1	NM_001854.4(COL11A1):c.1351-199C>T	noncoding	Benign
1	103018113	A	C	A103018113C	COL11A1	NM_001854.4(COL11A1):c.1351-231T>G	noncoding	Benign
1	103021778	T	G	T103021778G	COL11A1	NM_001854.4(COL11A1):c.1246-9A>C	noncoding	Benign/Likely_benign
1	103022617	G	A	G103022617A	COL11A1	NM_001854.4(COL11A1):c.1245+125C>T	noncoding	Benign
1	103023086	T	C	T103023086C	COL11A1	NM_001854.4(COL11A1):c.991-90A>G	noncoding	Benign
1	103026013	G	T	G103026013T	COL11A1	NM_001854.4(COL11A1):c.897+203C>A	noncoding	Benign
1	103026016	C	T	C103026016T	COL11A1	NM_001854.4(COL11A1):c.897+200G>A	noncoding	Benign
1	103026468	G	T	G103026468T	COL11A1	NM_001854.4(COL11A1):c.781-136C>A	noncoding	Benign
1	103026521	G	A	G103026521A	COL11A1	NM_001854.4(COL11A1):c.781-189C>T	noncoding	Benign
1	103026552	A	G	A103026552G	COL11A1	NM_001854.4(COL11A1):c.781-220T>C	noncoding	Benign
1	103031261	A	C	A103031261C	COL11A1	NM_001854.4(COL11A1):c.652-17T>G	noncoding	Benign/Likely_benign
1	103031319	G	A	G103031319A	COL11A1	NM_001854.4(COL11A1):c.652-75C>T	noncoding	Benign
1	103031427	G	A	G103031427A	COL11A1	NM_001854.4(COL11A1):c.652-183C>T	noncoding	Benign
1	103074421	G	T	G103074421T	COL11A1	NM_001854.4(COL11A1):c.651+197C>A	noncoding	Benign
1	103074425	A	G	A103074425G	COL11A1	NM_001854.4(COL11A1):c.651+193T>C	noncoding	Benign
1	103074657	C	A	C103074657A	COL11A1	NM_001854.4(COL11A1):c.612G>T:p.Thr204=	coding	Benign/Likely_benign
1	103074775	T	A	T103074775A	COL11A1	NM_001854.4(COL11A1):c.494A>T:p.His165Leu	coding	Pathogenic
1	103074933	A	G	A103074933G	COL11A1	NM_001854.4(COL11A1):c.489-153T>C	noncoding	Benign
1	103078662	C	T	C103078662T	COL11A1	NM_001854.4(COL11A1):c.484G>A:p.Gly162Arg	coding	Pathogenic/Likely_pathogenic
1	103082655	A	T	A103082655T	COL11A1	NM_001854.4(COL11A1):c.274+150T>A	noncoding	Benign
1	103083121	A	G	A103083121G	COL11A1	NM_001854.4(COL11A1):c.107-149T>C	noncoding	Benign
1	103083226	G	C	G103083226C	COL11A1	NM_001854.4(COL11A1):c.107-254C>G	noncoding	Benign
1	103083267	C	T	C103083267T	COL11A1	NM_001854.4(COL11A1):c.107-295G>A	noncoding	Benign
1	103083289	T	C	T103083289C	COL11A1	NM_001854.4(COL11A1):c.107-317A>G	noncoding	Benign
1	103533757	C	T	C103533757T	RNPC3	NM_017619.4(RNPC3):c.259C>T:p.Gln87Ter	coding	Pathogenic
1	103533840	C	T	C103533840T	RNPC3	NM_017619.4(RNPC3):c.342C>T:p.Gly114=	coding	Benign
1	103533873	A	G	A103533873G	RNPC3	NM_017619.4(RNPC3):c.359+16A>G	noncoding	Benign
1	103534857	G	C	G103534857C	RNPC3	NM_017619.4(RNPC3):c.443G>C:p.Gly148Ala	coding	Pathogenic
1	103536183	C	T	C103536183T	RNPC3	NM_017619.4(RNPC3):c.613C>T:p.Arg205Ter	coding	Pathogenic
1	103536195	G	T	G103536195T	RNPC3	NM_017619.4(RNPC3):c.624+1G>T	coding	Pathogenic
1	103546268	T	G	T103546268G	RNPC3	NM_017619.4(RNPC3):c.1228T>G:p.Phe410Val	coding	Pathogenic
1	103551028	A	T	A103551028T	RNPC3	NM_017619.4(RNPC3):c.1449A>T:p.Leu483Phe	coding	Pathogenic
1	107148301	A	G	A107148301G	NTNG1	NM_001113226.3(NTNG1):c.-293A>G	noncoding	Benign
1	107148474	G	C	G107148474C	NTNG1	NM_001113226.3(NTNG1):c.-120G>C	noncoding	Benign
1	107149019	T	C	T107149019C	NTNG1	NM_001113226.3(NTNG1):c.246+180T>C	noncoding	Benign
1	107325019	C	T	C107325019T	NTNG1	NM_001113226.3(NTNG1):c.887+97C>T	noncoding	Benign
1	107325095	A	C	A107325095C	NTNG1	NM_001113226.3(NTNG1):c.887+173A>C	noncoding	Benign
1	107394846	C	G	C107394846G	NTNG1	NM_001113226.3(NTNG1):c.888-308C>G	noncoding	Benign
1	107418537	A	G	A107418537G	NTNG1	NM_001113226.3(NTNG1):c.1087+10829A>G	noncoding	Benign
1	107418574	G	A	G107418574A	NTNG1	NM_001113226.3(NTNG1):c.1087+10866G>A	noncoding	Benign
1	107436774	A	C	A107436774C	NTNG1	NM_001113226.3(NTNG1):c.1365A>C:p.Gly455=	coding	Benign
1	107437057	T	G	T107437057G	NTNG1	NM_001113226.3(NTNG1):c.1390+258T>G	noncoding	Benign
1	107480967	A	C	A107480967C	NTNG1	NM_001113226.3(NTNG1):c.*127A>C	noncoding	Benign
1	108136529	A	G	A108136529G	SLC25A24	NM_013386.5(SLC25A24):c.*124T>C	noncoding	Benign
1	108136910	C	T	C108136910T	SLC25A24	NM_013386.5(SLC25A24):c.1250-73G>A	noncoding	Benign
1	108138860	G	T	G108138860T	SLC25A24	NM_013386.5(SLC25A24):c.1249+198C>A	noncoding	Benign
1	108138978	T	C	T108138978C	SLC25A24	NM_013386.5(SLC25A24):c.1249+80A>G	noncoding	Benign
1	108139322	G	A	G108139322A	SLC25A24	NM_013386.5(SLC25A24):c.1099-114C>T	noncoding	Benign
1	108139400	A	G	A108139400G	SLC25A24	NM_013386.5(SLC25A24):c.1099-192T>C	noncoding	Benign
1	108155223	C	G	C108155223G	SLC25A24	NM_013386.5(SLC25A24):c.670-88G>C	noncoding	Benign
1	108155278	A	G	A108155278G	SLC25A24	NM_013386.5(SLC25A24):c.670-143T>C	noncoding	Benign
1	108157694	G	C	G108157694C	SLC25A24	NM_013386.5(SLC25A24):c.511-74C>G	noncoding	Benign
1	108161212	C	T	C108161212T	SLC25A24	NM_013386.5(SLC25A24):c.480G>A:p.Glu160=	coding	Benign
1	108181896	A	G	A108181896G	SLC25A24	NM_013386.5(SLC25A24):c.398+45T>C	noncoding	Benign
1	108182071	G	A	G108182071A	SLC25A24	NM_013386.5(SLC25A24):c.311-43C>T	noncoding	Benign
1	108182144	G	A	G108182144A	SLC25A24	NM_013386.5(SLC25A24):c.311-116C>T	noncoding	Benign
1	108185725	T	C	T108185725C	SLC25A24	NM_013386.5(SLC25A24):c.310+103A>G	noncoding	Benign
1	108185862	T	C	T108185862C	SLC25A24	NM_013386.5(SLC25A24):c.276A>G:p.Lys92=	coding	Benign
1	108192371	G	C	G108192371C	SLC25A24	NM_013386.5(SLC25A24):c.184-6417C>G	noncoding	Benign
1	108192590	T	C	T108192590C	SLC25A24	NM_013386.5(SLC25A24):c.184-6636A>G	coding	Benign
1	108192689	A	G	A108192689G	SLC25A24	NM_013386.5(SLC25A24):c.184-6735T>C	coding	Benign
1	108192761	C	T	C108192761T	SLC25A24	NM_013386.5(SLC25A24):c.184-6807G>A	coding	Benign
1	108192766	T	A	T108192766A	SLC25A24	NM_013386.5(SLC25A24):c.184-6812A>T	coding	Benign
1	108192953	T	C	T108192953C	SLC25A24	NM_013386.5(SLC25A24):c.184-6999A>G	noncoding	Benign
1	108200010	C	T	C108200010T	SLC25A24	NM_013386.5(SLC25A24):c.129G>A:p.Glu43=	coding	Benign
1	108200270	T	G	T108200270G	SLC25A24	NM_013386.5(SLC25A24):c.-132A>C	noncoding	Benign
1	108200330	G	T	G108200330T	SLC25A24	NM_013386.5(SLC25A24):c.-192C>A	noncoding	Benign
1	108200332	A	C	A108200332C	SLC25A24	NM_013386.5(SLC25A24):c.-194T>G	noncoding	Benign
1	108200420	C	A	C108200420A	SLC25A24	Single_allele	noncoding	Benign
1	108200437	G	C	G108200437C	SLC25A24	Single_allele	noncoding	Benign
1	108200518	C	G	C108200518G	SLC25A24	Single_allele	noncoding	Benign
1	108200556	C	G	C108200556G	SLC25A24	Single_allele	noncoding	Benign
1	108651152	G	C	G108651152C	HENMT1	NM_001102592.2(HENMT1):c.456C>G:p.Tyr152Ter	coding	Pathogenic
1	108655623	C	T	C108655623T	HENMT1	NM_001102592.2(HENMT1):c.226G>A:p.Gly76Arg	coding	Pathogenic
1	108885627	G	A	G108885627A	GPSM2	NM_013296.5(GPSM2):c.56+49G>A	noncoding	Benign
1	108896740	C	T	C108896740T	GPSM2	NM_013296.5(GPSM2):c.57-124C>T	noncoding	Benign
1	108896778	C	T	C108896778T	GPSM2	NM_013296.5(GPSM2):c.57-86C>T	noncoding	Benign
1	108901748	A	T	A108901748T	GPSM2	NM_013296.5(GPSM2):c.798-42A>T	noncoding	Benign
1	108901824	C	T	C108901824T	GPSM2	NM_013296.5(GPSM2):c.832C>T:p.Arg278Ter	coding	Pathogenic
1	108902176	A	G	A108902176G	GPSM2	NM_013296.5(GPSM2):c.953+231A>G	noncoding	Benign
1	108903084	T	G	T108903084G	GPSM2	NM_013296.5(GPSM2):c.954-42T>G	noncoding	Benign
1	108903107	G	T	G108903107T	GPSM2	NM_013296.5(GPSM2):c.954-19G>T	noncoding	Benign/Likely_benign
1	108914516	A	C	A108914516C	GPSM2	NM_013296.5(GPSM2):c.1263+108A>C	noncoding	Benign
1	108914529	C	T	C108914529T	GPSM2	NM_013296.5(GPSM2):c.1263+121C>T	noncoding	Benign
1	108922121	A	G	A108922121G	GPSM2	NM_013296.5(GPSM2):c.1441-296A>G	noncoding	Benign
1	108924447	G	A	G108924447A	GPSM2	NM_013296.5(GPSM2):c.1815+233G>A	noncoding	Benign
1	108934848	G	A	G108934848A	CLCC1	NM_001377458.1(CLCC1):c.1478C>T:p.Ser493Leu	coding	Benign
1	108937207	C	T	C108937207T	CLCC1	NM_001377458.1(CLCC1):c.1253G>A:p.Gly418Asp	coding	Benign
1	108937337	G	A	G108937337A	CLCC1	NM_001377458.1(CLCC1):c.1123C>T:p.Arg375Trp	coding	Benign
1	108937356	G	T	G108937356T	CLCC1	NM_001377458.1(CLCC1):c.1104C>A:p.Ser368Arg	coding	Benign
1	108939681	C	T	C108939681T	CLCC1	NM_001377458.1(CLCC1):c.996G>A:p.Ala332=	coding	Benign
1	108939682	G	A	G108939682A	CLCC1	NM_001377458.1(CLCC1):c.995C>T:p.Ala332Val	coding	Benign
1	108943574	A	G	A108943574G	CLCC1	NM_001377458.1(CLCC1):c.603T>C:p.Thr201=	coding	Benign
1	108943931	T	C	T108943931C	CLCC1	NM_001377458.1(CLCC1):c.466A>G:p.Ser156Gly	coding	Benign
1	108943935	T	C	T108943935C	CLCC1	NM_001377458.1(CLCC1):c.462A>G:p.Ala154=	coding	Benign
1	108944040	G	A	G108944040A	CLCC1	NM_001377458.1(CLCC1):c.357C>T:p.Gly119=	coding	Benign
1	108949856	T	C	T108949856C	CLCC1	NM_001377458.1(CLCC1):c.195A>G:p.Ser65=	coding	Benign
1	109228441	T	C	T109228441C	SARS1	NM_006513.4(SARS1):c.288+9T>C	noncoding	Benign
1	109235955	T	C	T109235955C	SARS1	NM_006513.4(SARS1):c.970-22T>C	noncoding	Benign
1	109251501	G	C	G109251501C	CELSR2	NM_001408.3(CELSR2):c.1422G>C:p.Val474=	coding	Benign
1	109251630	T	C	T109251630C	CELSR2	NM_001408.3(CELSR2):c.1551T>C:p.Ser517=	coding	Benign
1	109251699	G	A	G109251699A	CELSR2	NM_001408.3(CELSR2):c.1620G>A:p.Leu540=	coding	Benign
1	109252269	G	A	G109252269A	CELSR2	NM_001408.3(CELSR2):c.2190G>A:p.Thr730=	coding	Benign
1	109252404	T	C	T109252404C	CELSR2	NM_001408.3(CELSR2):c.2325T>C:p.Tyr775=	coding	Benign
1	109252986	T	C	T109252986C	CELSR2	NM_001408.3(CELSR2):c.2907T>C:p.Phe969=	coding	Benign
1	109258499	C	T	C109258499T	CELSR2	NM_001408.3(CELSR2):c.3378C>T:p.Thr1126=	coding	Benign
1	109258723	C	T	C109258723T	CELSR2	NM_001408.3(CELSR2):c.3602C>T:p.Pro1201Leu	coding	Benign
1	109263245	T	C	T109263245C	CELSR2	NM_001408.3(CELSR2):c.4812T>C:p.Phe1604=	coding	Benign
1	109263691	T	C	T109263691C	CELSR2	NM_001408.3(CELSR2):c.4915T>C:p.Tyr1639His	coding	Benign
1	109264212	C	T	C109264212T	CELSR2	NM_001408.3(CELSR2):c.5136C>T:p.Pro1712=	coding	Benign
1	109264378	C	T	C109264378T	CELSR2	NM_001408.3(CELSR2):c.5289+13C>T	noncoding	Benign
1	109264477	G	A	G109264477A	CELSR2	NM_001408.3(CELSR2):c.5313G>A:p.Pro1771=	coding	Benign
1	109264949	C	T	C109264949T	CELSR2	NM_001408.3(CELSR2):c.5546C>T:p.Ala1849Val	coding	Benign
1	109267561	C	T	C109267561T	CELSR2	NM_001408.3(CELSR2):c.6027C>T:p.Arg2009=	coding	Benign
1	109267922	C	A	C109267922A	CELSR2	NM_001408.3(CELSR2):c.6180C>A:p.Arg2060=	coding	Benign
1	109268873	T	C	T109268873C	CELSR2	NM_001408.3(CELSR2):c.6503-7T>C	noncoding	Benign
1	109269757	C	T	C109269757T	CELSR2	NM_001408.3(CELSR2):c.7044C>T:p.His2348=	coding	Benign
1	109269793	T	C	T109269793C	CELSR2	NM_001408.3(CELSR2):c.7080T>C:p.Ala2360=	coding	Benign
1	109270090	C	G	C109270090G	CELSR2	NM_001408.3(CELSR2):c.7265C>G:p.Ala2422Gly	coding	Benign
1	109270421	C	T	C109270421T	CELSR2	NM_001408.3(CELSR2):c.7309-5C>T	noncoding	Benign
1	109272258	C	T	C109272258T	CELSR2	NM_001408.3(CELSR2):c.7927-20C>T	noncoding	Benign
1	109272630	A	G	A109272630G	CELSR2	NM_001408.3(CELSR2):c.8055-10A>G	noncoding	Benign
1	109272746	T	C	T109272746C	CELSR2	NM_001408.3(CELSR2):c.8143+18T>C	noncoding	Benign
1	109273239	C	T	C109273239T	CELSR2	NM_001408.3(CELSR2):c.8412C>T:p.Asn2804=	coding	Benign
1	109273244	C	T	C109273244T	CELSR2	NM_001408.3(CELSR2):c.8417C>T:p.Ala2806Val	coding	Benign
1	109273554	A	C	A109273554C	CELSR2	NM_001408.3(CELSR2):c.8628A>C:p.Gly2876=	coding	Benign
1	109273567	C	T	C109273567T	CELSR2	NM_001408.3(CELSR2):c.8641C>T:p.Arg2881Cys	coding	Benign
1	109294170	G	C	G109294170C	MYBPHL	NM_001010985.3(MYBPHL):c.*33+36C>G	noncoding	Benign
1	109294213	A	G	A109294213G	MYBPHL	NM_001010985.3(MYBPHL):c.*26T>C	noncoding	Benign
1	109294220	C	G	C109294220G	MYBPHL	NM_001010985.3(MYBPHL):c.*19G>C	noncoding	Benign
1	109294929	A	G	A109294929G	MYBPHL	NM_001010985.3(MYBPHL):c.1054+182T>C	noncoding	Benign
1	109295086	G	A	G109295086A	MYBPHL	NM_001010985.3(MYBPHL):c.1054+25C>T	noncoding	Benign
1	109295494	C	T	C109295494T	MYBPHL	NM_001010985.3(MYBPHL):c.868-197G>A	noncoding	Benign
1	109296211	T	C	T109296211C	MYBPHL	NM_001010985.3(MYBPHL):c.867+23A>G	noncoding	Benign
1	109296296	C	T	C109296296T	MYBPHL	NM_001010985.3(MYBPHL):c.805G>A:p.Asp269Asn	coding	Benign
1	109296770	A	G	A109296770G	MYBPHL	NM_001010985.3(MYBPHL):c.730+13T>C	noncoding	Benign
1	109296778	C	T	C109296778T	MYBPHL	NM_001010985.3(MYBPHL):c.730+5G>A	noncoding	Benign
1	109296811	A	G	A109296811G	MYBPHL	NM_001010985.3(MYBPHL):c.702T>C:p.Thr234=	coding	Benign
1	109297116	C	A	C109297116A	MYBPHL	NM_001010985.3(MYBPHL):c.504G>T:p.Pro168=	coding	Benign
1	109297274	C	T	C109297274T	MYBPHL	NM_001010985.3(MYBPHL):c.431-85G>A	noncoding	Benign
1	109297332	G	C	G109297332C	MYBPHL	NM_001010985.3(MYBPHL):c.430+90C>G	noncoding	Benign
1	109298007	G	A	G109298007A	MYBPHL	NM_001010985.3(MYBPHL):c.234+162C>T	noncoding	Benign
1	109298095	C	G	C109298095G	MYBPHL	NM_001010985.3(MYBPHL):c.234+74G>C	noncoding	Benign
1	109298296	C	T	C109298296T	MYBPHL	NM_001010985.3(MYBPHL):c.146-39G>A	noncoding	Benign
1	109298449	G	A	G109298449A	MYBPHL	NM_001010985.3(MYBPHL):c.146-192C>T	noncoding	Benign
1	109306632	A	G	A109306632G	MYBPHL	NM_001010985.3(MYBPHL):c.145+215T>C	noncoding	Benign
1	109548649	C	T	C109548649T	GNAI3	NM_006496.4(GNAI3):c.-72C>T	noncoding	Benign
1	109548660	C	T	C109548660T	GNAI3	NM_006496.4(GNAI3):c.-61C>T	noncoding	Benign
1	109548825	G	A	G109548825A	GNAI3	NM_006496.4(GNAI3):c.105G>A:p.Lys35=	coding	Benign
1	109582763	G	A	G109582763A	GNAI3	NM_006496.4(GNAI3):c.590+198G>A	noncoding	Benign
1	109586023	A	G	A109586023G	GNAI3	NM_006496.4(GNAI3):c.591-193A>G	noncoding	Benign
1	109586198	T	G	T109586198G	GNAI3	NM_006496.4(GNAI3):c.591-18T>G	noncoding	Benign
1	109603482	G	A	G109603482A	GNAT2	NM_001377295.2(GNAT2):c.937C>T:p.Arg313Ter	coding	Pathogenic
1	109608723	G	A	G109608723A	GNAT2	NM_001377295.2(GNAT2):c.369C>T:p.Leu123=	coding	Benign/Likely_benign
1	109619568	C	T	C109619568T	AMPD2	NM_001377295.2(GNAT2):c.-139G>A	noncoding	Benign
1	109619926	C	T	C109619926T	AMPD2	NM_001368809.2(AMPD2):c.-615C>T	noncoding	Benign
1	109620296	T	C	T109620296C	AMPD2	NM_001368809.2(AMPD2):c.-263+18T>C	noncoding	Benign
1	109620454	A	G	A109620454G	AMPD2	NM_001368809.2(AMPD2):c.-263+176A>G	noncoding	Benign
1	109621257	G	A	G109621257A	AMPD2	NM_001368809.2(AMPD2):c.82G>A:p.Ala28Thr	coding	Benign/Likely_benign
1	109621439	T	G	T109621439G	AMPD2	NM_001368809.2(AMPD2):c.91+173T>G	noncoding	Benign
1	109621446	C	G	C109621446G	AMPD2	NM_001368809.2(AMPD2):c.91+180C>G	noncoding	Benign
1	109625466	G	A	G109625466A	AMPD2	NM_001368809.2(AMPD2):c.222+33G>A	coding	Benign
1	109625686	G	T	G109625686T	AMPD2	NM_001368809.2(AMPD2):c.247G>T:p.Glu83Ter	coding	Pathogenic
1	109626266	C	G	C109626266G	AMPD2	NM_001368809.2(AMPD2):c.422+38C>G	noncoding	Benign
1	109626568	C	T	C109626568T	AMPD2	NM_001368809.2(AMPD2):c.531+141C>T	noncoding	Benign
1	109626708	G	A	G109626708A	AMPD2	NM_001368809.2(AMPD2):c.532-18G>A	noncoding	Benign
1	109626725	G	T	G109626725T	AMPD2	NM_001368809.2(AMPD2):c.532-1G>T	noncoding	Pathogenic
1	109627311	C	T	C109627311T	AMPD2	NM_001368809.2(AMPD2):c.855C>T:p.Asp285=	coding	Benign
1	109627335	A	G	A109627335G	AMPD2	NM_001368809.2(AMPD2):c.860+19A>G	noncoding	Benign
1	109627353	G	A	G109627353A	AMPD2	NM_001368809.2(AMPD2):c.860+37G>A	noncoding	Benign
1	109627463	C	T	C109627463T	AMPD2	NM_001368809.2(AMPD2):c.895C>T:p.Gln299Ter	coding	Pathogenic
1	109627480	C	T	C109627480T	AMPD2	NM_001368809.2(AMPD2):c.912C>T:p.Asp304=	coding	Benign
1	109628274	T	C	T109628274C	AMPD2	NM_001368809.2(AMPD2):c.1272T>C:p.His424=	coding	Benign
1	109628344	A	G	A109628344G	AMPD2	NM_001368809.2(AMPD2):c.1276-20A>G	noncoding	Benign
1	109628433	C	T	C109628433T	AMPD2	NM_001368809.2(AMPD2):c.1345C>T:p.Arg449Ter	coding	Pathogenic/Likely_pathogenic
1	109628631	C	T	C109628631T	AMPD2	NM_001368809.2(AMPD2):c.1408-12C>T	noncoding	Benign/Likely_benign
1	109628838	C	T	C109628838T	AMPD2	NM_001368809.2(AMPD2):c.1571+32C>T	noncoding	Benign
1	109628903	C	G	C109628903G	AMPD2	NM_001368809.2(AMPD2):c.1571+97C>G	noncoding	Benign
1	109629083	A	C	A109629083C	AMPD2	NM_001368809.2(AMPD2):c.1572-26A>C	noncoding	Benign
1	109629474	T	C	T109629474C	AMPD2	NM_001368809.2(AMPD2):c.1846T>C:p.Leu616=	coding	Benign
1	109629554	C	T	C109629554T	AMPD2	NM_001368809.2(AMPD2):c.1862+64C>T	noncoding	Benign
1	109629719	C	T	C109629719T	AMPD2	NM_001368809.2(AMPD2):c.1863-77C>T	noncoding	Benign
1	109629740	C	T	C109629740T	AMPD2	NM_001368809.2(AMPD2):c.1863-56C>T	noncoding	Benign
1	109630036	A	G	A109630036G	AMPD2	NM_001368809.2(AMPD2):c.1983+120A>G	noncoding	Benign
1	109630214	C	T	C109630214T	AMPD2	NM_001368809.2(AMPD2):c.1984-19C>T	noncoding	Benign
1	109630218	C	G	C109630218G	AMPD2	NM_001368809.2(AMPD2):c.1984-15C>G	noncoding	Benign
1	109630472	G	C	G109630472C	AMPD2	NM_001368809.2(AMPD2):c.2157+66G>C	noncoding	Benign
1	109630478	C	G	C109630478G	AMPD2	NM_001368809.2(AMPD2):c.2157+72C>G	noncoding	Benign
1	109630481	T	G	T109630481G	AMPD2	NM_001368809.2(AMPD2):c.2157+75T>G	noncoding	Benign
1	109631149	A	G	A109631149G	AMPD2	NM_001368809.2(AMPD2):c.2475A>G:p.Gln825=	coding	Benign
1	109631153	G	T	G109631153T	AMPD2	NM_001368809.2(AMPD2):c.*1G>T	coding	Benign
1	109759114	C	G	C109759114G	EPS8L3	NM_133181.4(EPS8L3):c.409G>C:p.Glu137Gln	coding	Benign
1	110064324	C	G	C110064324G	ALX3	NM_006492.3(ALX3):c.594+263G>C	noncoding	Benign
1	110064397	A	G	A110064397G	ALX3	NM_006492.3(ALX3):c.594+190T>C	noncoding	Benign
1	110070040	A	G	A110070040G	ALX3	NM_006492.3(ALX3):c.277+296T>C	noncoding	Benign
1	110070105	T	C	T110070105C	ALX3	NM_006492.3(ALX3):c.277+231A>G	noncoding	Benign
1	110070303	G	A	G110070303A	ALX3	NM_006492.3(ALX3):c.277+33C>T	noncoding	Benign
1	110167097	T	C	T110167097C	SLC6A17	NM_001010898.4(SLC6A17):c.168T>C:p.Asp56=	coding	Benign
1	110167098	G	A	G110167098A	SLC6A17	NM_001010898.4(SLC6A17):c.169G>A:p.Ala57Thr	coding	Benign
1	110518130	C	T	C110518130T	KCNA10	NM_005549.2(KCNA10):c.658G>A:p.Val220Met	coding	Benign
1	110593843	G	C	G110593843C	KCNA2	NM_004974.4(KCNA2):c.*9440C>G	noncoding	Benign
1	110593985	C	T	C110593985T	KCNA2	NM_004974.4(KCNA2):c.*9298G>A	noncoding	Benign
1	110593989	G	A	G110593989A	KCNA2	NM_004974.4(KCNA2):c.*9294C>T	noncoding	Benign
1	110601790	A	G	A110601790G	KCNA2	NM_004974.4(KCNA2):c.*1493T>C	noncoding	Benign
1	110601792	A	G	A110601792G	KCNA2	NM_004974.4(KCNA2):c.*1491T>C	noncoding	Benign
1	110601794	A	G	A110601794G	KCNA2	NM_004974.4(KCNA2):c.*1489T>C	noncoding	Benign
1	110601798	G	A	G110601798A	KCNA2	NM_004974.4(KCNA2):c.*1485C>T	noncoding	Benign
1	110601828	G	A	G110601828A	KCNA2	NM_004974.4(KCNA2):c.*1455C>T	noncoding	Benign
1	110601904	T	G	T110601904G	KCNA2	NM_004974.4(KCNA2):c.*1379A>C	noncoding	Benign
1	110602039	A	G	A110602039G	KCNA2	NM_004974.4(KCNA2):c.*1244T>C	coding	Benign
1	110602333	C	T	C110602333T	KCNA2	NM_004974.4(KCNA2):c.*950G>A	noncoding	Benign
1	110603247	G	C	G110603247C	KCNA2	NM_004974.4(KCNA2):c.*36C>G	coding	Benign
1	110603567	C	A	C110603567A	KCNA2	NM_004974.4(KCNA2):c.1216G>T:p.Val406Phe	coding	Pathogenic
1	110603581	G	A	G110603581A	KCNA2	NM_004974.4(KCNA2):c.1202C>T:p.Thr401Ile	coding	Pathogenic
1	110603588	C	T	C110603588T	KCNA2	NM_004974.4(KCNA2):c.1195G>A:p.Val399Met	coding	Pathogenic
1	110603640	A	G	A110603640G	KCNA2	NM_004974.4(KCNA2):c.1143T>C:p.Val381=	coding	Benign
1	110604143	G	A	G110604143A	KCNA2	NM_004974.4(KCNA2):c.640C>T:p.Gln214Ter	coding	Pathogenic
1	110604228	C	T	C110604228T	KCNA2	NM_004974.4(KCNA2):c.555G>A:p.Leu185=	coding	Benign
1	110604809	G	A	G110604809A	KCNA2	NM_004974.4(KCNA2):c.-27C>T	noncoding	Benign
1	110605284	A	G	A110605284G	KCNA2	NM_004974.4(KCNA2):c.-164+107T>C	noncoding	Benign
1	110606367	C	A	C110606367A	KCNA2	NM_001204269.2(KCNA2):c.-495-645G>T	noncoding	Benign
1	111118860	C	T	C111118860T	DRAM2	NM_001349884.2(DRAM2):c.638G>A:p.Trp213Ter	coding	Pathogenic
1	111120418	A	G	A111120418G	DRAM2	NM_001349884.2(DRAM2):c.517+98T>C	noncoding	Benign
1	111131550	C	T	C111131550T	DRAM2	NM_001349884.2(DRAM2):c.5G>A:p.Trp2Ter	coding	Pathogenic
1	111503935	C	T	C111503935T	ADORA3	NM_000677.3(ADORA3):c.-581G>A	coding	Benign
1	111691119	T	C	T111691119C	RAP1A	NM_002884.4(RAP1A):c.-27-215T>C	noncoding	Benign
1	111691176	G	A	G111691176A	RAP1A	NM_002884.4(RAP1A):c.-27-158G>A	noncoding	Benign
1	111691446	T	A	T111691446A	RAP1A	NM_002884.4(RAP1A):c.57+29T>A	noncoding	Benign
1	111691462	G	T	G111691462T	RAP1A	NM_002884.4(RAP1A):c.57+45G>T	noncoding	Benign
1	111691593	C	T	C111691593T	RAP1A	NM_002884.4(RAP1A):c.57+176C>T	noncoding	Benign
1	111695293	A	T	A111695293T	RAP1A	NM_002884.4(RAP1A):c.58-48A>T	noncoding	Benign
1	111695594	A	G	A111695594G	RAP1A	NM_002884.4(RAP1A):c.126+185A>G	noncoding	Benign
1	111697229	C	T	C111697229T	RAP1A	NM_002884.4(RAP1A):c.127-212C>T	noncoding	Benign
1	111709280	C	T	C111709280T	RAP1A	NM_002884.4(RAP1A):c.*29+16C>T	noncoding	Benign
1	111709361	C	G	C111709361G	RAP1A	NM_002884.4(RAP1A):c.*29+97C>G	noncoding	Benign
1	111775862	A	G	A111775862G	KCND3	NM_001378969.1(KCND3):c.*215T>C	noncoding	Benign
1	111776155	C	T	C111776155T	KCND3	NM_001378969.1(KCND3):c.1890G>A:p.Arg630=	coding	Benign
1	111777219	T	C	T111777219C	KCND3	NM_001378969.1(KCND3):c.1573A>G:p.Met525Val	coding	Benign/Likely_benign
1	111778224	T	G	T111778224G	KCND3	NM_001378969.1(KCND3):c.1518+212A>C	noncoding	Benign
1	111778362	G	A	G111778362A	KCND3	NM_001378969.1(KCND3):c.1518+74C>T	noncoding	Benign
1	111778410	T	A	T111778410A	KCND3	NM_001378969.1(KCND3):c.1518+26A>T	noncoding	Benign
1	111780574	G	A	G111780574A	KCND3	NM_001378969.1(KCND3):c.1371+116C>T	noncoding	Benign
1	111780707	C	T	C111780707T	KCND3	NM_001378969.1(KCND3):c.1354G>A:p.Glu452Lys	coding	Benign/Likely_benign
1	111786931	G	A	G111786931A	KCND3	NM_001378969.1(KCND3):c.1269+13C>T	noncoding	Benign/Likely_benign
1	111787216	G	T	G111787216T	KCND3	NM_001378969.1(KCND3):c.1107-110C>A	noncoding	Benign
1	111787356	T	G	T111787356G	KCND3	NM_001378969.1(KCND3):c.1107-250A>C	noncoding	Benign
1	111835021	G	A	G111835021A	KCND3	NM_001378969.1(KCND3):c.1107-47915C>T	noncoding	Benign
1	111981941	G	A	G111981941A	KCND3	NM_001378969.1(KCND3):c.786C>T:p.Ile262=	coding	Benign/Likely_benign
1	111982103	G	A	G111982103A	KCND3	NM_001378969.1(KCND3):c.624C>T:p.Gly208=	coding	Benign/Likely_benign
1	111988885	C	A	C111988885A	KCND3	NM_001378969.1(KCND3):c.-73+620G>T	noncoding	Benign
1	112520503	A	G	A112520503G	WNT2B	NM_024494.3(WNT2B):c.1170A>G:p.Gln390=	coding	Benign
1	112619878	G	A	G112619878A	CAPZA1	NM_006135.3(CAPZA1):c.34G>A:p.Glu12Lys	coding	Benign/Likely_benign
1	112712834	C	A	C112712834A	PPM1J	NM_005167.7(PPM1J):c.639G>T:p.Leu213Phe	coding	Benign
1	112918061	T	G	T112918061G	SLC16A1	NM_003051.4(SLC16A1):c.362-17A>C	noncoding	Benign
1	112918065	T	G	T112918065G	SLC16A1	NM_003051.4(SLC16A1):c.362-21A>C	noncoding	Benign
1	112921685	T	A	T112921685A	SLC16A1	NM_003051.4(SLC16A1):c.361+305A>T	noncoding	Benign
1	113114470	A	C	A113114470C	LRIG2	NM_014813.3(LRIG2):c.2124A>C:p.Thr708=	coding	Benign
1	113116265	G	A	G113116265A	LRIG2	NM_014813.3(LRIG2):c.2531-22G>A	noncoding	Benign
1	113896009	G	A	G113896009A	AP4B1	NM_001253852.3(AP4B1):c.1540C>T:p.Arg514Ter	coding	Pathogenic/Likely_pathogenic
1	113896309	G	A	G113896309A	AP4B1	NM_001253852.3(AP4B1):c.1459C>T:p.Arg487Ter	coding	Pathogenic
1	113896403	A	T	A113896403T	AP4B1	NM_001253852.3(AP4B1):c.1365T>A:p.Tyr455Ter	coding	Pathogenic
1	113896671	A	G	A113896671G	AP4B1	NM_001253852.3(AP4B1):c.1303-206T>C	noncoding	Benign
1	113897636	C	G	C113897636G	AP4B1	NM_001253852.3(AP4B1):c.1302+204G>C	noncoding	Benign
1	113899961	G	A	G113899961A	AP4B1	NM_001253852.3(AP4B1):c.1057C>T:p.Arg353Ter	coding	Pathogenic
1	113900033	T	A	T113900033A	AP4B1	NM_001253852.3(AP4B1):c.985A>T:p.Lys329Ter	coding	Pathogenic
1	113901237	G	A	G113901237A	AP4B1	NM_001253852.3(AP4B1):c.616C>T:p.Arg206Ter	coding	Pathogenic/Likely_pathogenic
1	113901872	G	A	G113901872A	AP4B1	NM_001253852.3(AP4B1):c.352C>T:p.Gln118Ter	coding	Pathogenic
1	113901900	C	T	C113901900T	AP4B1	NM_001253852.3(AP4B1):c.339-15G>A	noncoding	Benign
1	113902757	G	T	G113902757T	AP4B1	NM_001253852.3(AP4B1):c.219C>A:p.Cys73Ter	coding	Pathogenic
1	113904412	G	C	G113904412C	AP4B1	NM_001253852.3(AP4B1):c.113+193C>G	noncoding	Benign
1	113904989	T	C	T113904989C	DCLRE1B	NM_001319947.2(DCLRE1B):c.-331+281T>C	noncoding	Benign
1	113905154	C	G	C113905154G	AP4B1	NM_001319947.2(DCLRE1B):c.-330-315C>G	noncoding	Benign
1	113905292	G	T	G113905292T	DCLRE1B	NM_001319947.2(DCLRE1B):c.-330-177G>T	noncoding	Benign
1	113905575	A	G	A113905575G	DCLRE1B	NM_022836.4(DCLRE1B):c.-12A>G	noncoding	Benign
1	113905767	C	T	C113905767T	AP4B1;DCLRE1B;SYT6	NM_022836.4(DCLRE1B):c.181C>T:p.His61Tyr	coding	Benign
1	113907040	T	C	T113907040C	DCLRE1B	NM_022836.4(DCLRE1B):c.234T>C:p.His78=	coding	Benign
1	113907207	T	A	T113907207A	DCLRE1B	NM_022836.4(DCLRE1B):c.355+46T>A	noncoding	Benign
1	113907213	T	A	T113907213A	DCLRE1B	NM_022836.4(DCLRE1B):c.355+52T>A	noncoding	Benign
1	113907234	T	A	T113907234A	DCLRE1B	NM_022836.4(DCLRE1B):c.355+73T>A	noncoding	Benign
1	113907235	A	T	A113907235T	DCLRE1B	NM_022836.4(DCLRE1B):c.355+74A>T	noncoding	Benign
1	113907236	A	T	A113907236T	DCLRE1B	NM_022836.4(DCLRE1B):c.355+75A>T	noncoding	Benign
1	113907240	A	T	A113907240T	DCLRE1B	NM_022836.4(DCLRE1B):c.355+79A>T	noncoding	Benign
1	113907400	G	A	G113907400A	DCLRE1B	NM_022836.4(DCLRE1B):c.355+239G>A	noncoding	Benign
1	113908342	T	C	T113908342C	DCLRE1B	NM_022836.4(DCLRE1B):c.538+151T>C	noncoding	Benign
1	114430807	T	C	T114430807C	TRIM33	NM_015906.4(TRIM33):c.1146A>G:p.Gln382=	coding	Benign
1	114674077	G	A	G114674077A	AMPD1	NM_000036.3(AMPD1):c.1806C>T:p.Pro602=	coding	Benign
1	114674265	C	T	C114674265T	AMPD1	NM_000036.3(AMPD1):c.1801-183G>A	noncoding	Benign
1	114674270	G	T	G114674270T	AMPD1	NM_000036.3(AMPD1):c.1801-188C>A	noncoding	Benign
1	114674348	C	T	C114674348T	AMPD1	NM_000036.3(AMPD1):c.1801-266G>A	noncoding	Benign
1	114675106	G	C	G114675106C	AMPD1	NM_000036.3(AMPD1):c.1680-234C>G	noncoding	Benign
1	114675792	G	A	G114675792A	AMPD1	NM_000036.3(AMPD1):c.1515+85C>T	noncoding	Benign
1	114676160	A	G	A114676160G	AMPD1	NM_000036.3(AMPD1):c.1389-157T>C	noncoding	Benign
1	114676286	G	A	G114676286A	AMPD1	NM_000036.3(AMPD1):c.1389-283C>T	noncoding	Benign
1	114677054	G	A	G114677054A	AMPD1	NM_000036.3(AMPD1):c.1388+297C>T	noncoding	Benign
1	114677108	G	A	G114677108A	AMPD1	NM_000036.3(AMPD1):c.1388+243C>T	noncoding	Benign
1	114677215	C	G	C114677215G	AMPD1	NM_000036.3(AMPD1):c.1388+136G>C	noncoding	Benign
1	114677223	G	A	G114677223A	AMPD1	NM_000036.3(AMPD1):c.1388+128C>T	noncoding	Benign
1	114677903	G	A	G114677903A	AMPD1	NM_000036.3(AMPD1):c.1224+7C>T	noncoding	Benign
1	114678715	A	T	A114678715T	AMPD1	NM_000036.3(AMPD1):c.898-188T>A	noncoding	Benign
1	114679548	G	C	G114679548C	AMPD1	NM_000036.3(AMPD1):c.897+31C>G	noncoding	Benign
1	114679813	G	A	G114679813A	AMPD1	NM_000036.3(AMPD1):c.768-105C>T	noncoding	Benign
1	114679857	G	A	G114679857A	AMPD1	NM_000036.3(AMPD1):c.768-149C>T	noncoding	Benign
1	114680345	A	G	A114680345G	AMPD1	NM_000036.3(AMPD1):c.681T>C:p.Asp227=	coding	Benign
1	114680535	A	T	A114680535T	AMPD1	NM_000036.3(AMPD1):c.548-57T>A	noncoding	Benign
1	114680692	C	T	C114680692T	AMPD1	NM_000036.3(AMPD1):c.548-214G>A	noncoding	Benign
1	114684030	T	C	T114684030C	AMPD1	NM_000036.3(AMPD1):c.547+169A>G	noncoding	Benign
1	114686540	T	C	T114686540C	AMPD1	NM_000036.3(AMPD1):c.381+205A>G	noncoding	Benign
1	114693160	A	G	A114693160G	AMPD1	NM_000036.3(AMPD1):c.34+276T>C	noncoding	Benign
1	114693284	A	G	A114693284G	AMPD1	NM_000036.3(AMPD1):c.34+152T>C	noncoding	Benign
1	114713917	G	A	G114713917A	NRAS	NM_002524.5(NRAS):c.173C>T:p.Thr58Ile	coding	Pathogenic/Likely_pathogenic
1	114714002	G	T	G114714002T	NRAS	NM_002524.5(NRAS):c.112-24C>A	noncoding	Benign
1	114714048	G	A	G114714048A	NRAS	NM_002524.5(NRAS):c.112-70C>T	noncoding	Benign
1	114716125	A	C	A114716125C	NRAS	NM_002524.5(NRAS):c.36T>G:p.Gly12=	coding	Benign/Likely_benign
1	114716463	G	A	G114716463A	NRAS	NM_002524.5(NRAS):c.-18+195C>T	noncoding	Benign
1	114716502	T	G	T114716502G	NRAS	NM_002524.5(NRAS):c.-18+156A>C	noncoding	Benign
1	114716596	T	G	T114716596G	NRAS	NM_002524.5(NRAS):c.-18+62A>C	noncoding	Benign
1	114716978	G	T	G114716978T	NRAS	NM_001007553.3(CSDE1):c.*1191C>A	noncoding	Benign
1	114739730	G	C	G114739730C	CSDE1	NM_001007553.3(CSDE1):c.161C>G:p.Ser54Ter	coding	Pathogenic
1	115033094	A	G	A115033094G	TSHB	NM_000549.5(TSHB):c.-1-268A>G	noncoding	Benign
1	115033861	C	G	C115033861G	TSHB	NM_000549.5(TSHB):c.163-112C>G	noncoding	Benign
1	115034015	C	T	C115034015T	TSHB	NM_000549.5(TSHB):c.205C>T:p.Gln69Ter	coding	Pathogenic/Likely_pathogenic
1	115286520	C	T	C115286520T	NGF	NM_002506.3(NGF):c.276G>A:p.Gln92=	coding	Benign
1	115293399	C	T	C115293399T	NGF	NM_002506.3(NGF):c.-13+228G>A	noncoding	Benign
1	115293482	G	T	G115293482T	NGF	NM_002506.3(NGF):c.-13+145C>A	noncoding	Benign
1	115293917	G	A	G115293917A	NGF	NM_002506.3(NGF):c.-136-167C>T	noncoding	Benign
1	115338054	A	C	A115338054C	NGF	NM_002506.3(NGF):c.-137+150T>G	noncoding	Benign
1	115659527	G	A	G115659527A	VANGL1	NM_138959.3(VANGL1):c.72-114G>A	noncoding	Benign
1	115682167	T	C	T115682167C	VANGL1	NM_138959.3(VANGL1):c.813-197T>C	noncoding	Benign
1	115682171	C	T	C115682171T	VANGL1	NM_138959.3(VANGL1):c.813-193C>T	noncoding	Benign
1	115682304	G	A	G115682304A	VANGL1	NM_138959.3(VANGL1):c.813-60G>A	noncoding	Benign
1	115682319	C	A	C115682319A	VANGL1	NM_138959.3(VANGL1):c.813-45C>A	noncoding	Benign
1	115682559	A	C	A115682559C	VANGL1	NM_138959.3(VANGL1):c.946+62A>C	noncoding	Benign
1	115682809	G	T	G115682809T	VANGL1	NM_138959.3(VANGL1):c.946+312G>T	noncoding	Benign
1	115683838	C	T	C115683838T	VANGL1	NM_138959.3(VANGL1):c.947-106C>T	noncoding	Benign
1	115685017	T	C	T115685017C	VANGL1	NM_138959.3(VANGL1):c.1080-276T>C	noncoding	Benign
1	115685043	C	T	C115685043T	VANGL1	NM_138959.3(VANGL1):c.1080-250C>T	noncoding	Benign
1	115685599	C	T	C115685599T	VANGL1	NM_138959.3(VANGL1):c.1314+72C>T	noncoding	Benign
1	115690789	C	T	C115690789T	VANGL1	NM_138959.3(VANGL1):c.1315-330C>T	noncoding	Benign
1	115702760	G	T	G115702760T	CASQ2	NM_001232.4(CASQ2):c.1014+161C>A	noncoding	Benign
1	115702920	C	T	C115702920T	CASQ2	NM_001232.4(CASQ2):c.1014+1G>A	noncoding	Pathogenic
1	115702947	G	A	G115702947A	CASQ2	NM_001232.4(CASQ2):c.988C>T:p.Gln330Ter	coding	Pathogenic
1	115705187	C	G	C115705187G	CASQ2	NM_001232.4(CASQ2):c.939+5G>C	noncoding	Pathogenic/Likely_pathogenic
1	115717949	T	C	T115717949C	CASQ2	NM_001232.4(CASQ2):c.784-55A>G	noncoding	Benign
1	115725508	C	T	C115725508T	CASQ2	NM_001232.4(CASQ2):c.783G>A:p.Trp261Ter	coding	Pathogenic/Likely_pathogenic
1	115726990	A	T	A115726990T	CASQ2	NM_001232.4(CASQ2):c.737+2T>A	noncoding	Pathogenic
1	115727014	C	A	C115727014A	CASQ2	NM_001232.4(CASQ2):c.715G>T:p.Glu239Ter	coding	Pathogenic
1	115732931	G	T	G115732931T	CASQ2	NM_001232.4(CASQ2):c.576C>A:p.Tyr192Ter	coding	Pathogenic
1	115738353	C	G	C115738353G	CASQ2	NM_001232.4(CASQ2):c.421-18G>C	noncoding	Benign/Likely_benign
1	115738355	T	A	T115738355A	CASQ2	NM_001232.4(CASQ2):c.421-20A>T	noncoding	Benign/Likely_benign
1	115740767	G	A	G115740767A	CASQ2	NM_001232.4(CASQ2):c.381C>T:p.Gly127=	coding	Pathogenic/Likely_pathogenic
1	115744684	C	T	C115744684T	CASQ2	NM_001232.4(CASQ2):c.319+144G>A	noncoding	Benign
1	115745013	A	G	A115745013G	CASQ2	NM_001232.4(CASQ2):c.235-101T>C	noncoding	Benign
1	115745030	G	A	G115745030A	CASQ2	NM_001232.4(CASQ2):c.235-118C>T	noncoding	Benign
1	115768279	C	T	C115768279T	CASQ2	NM_001232.4(CASQ2):c.234+29G>A	noncoding	Benign
1	115768444	C	T	C115768444T	CASQ2	NM_001232.4(CASQ2):c.98G>A:p.Arg33Gln	coding	Pathogenic
1	115768561	T	C	T115768561C	CASQ2	NM_001232.4(CASQ2):c.-20A>G	noncoding	Benign
1	116373434	C	T	C116373434T	ATP1A1	NM_000701.8(ATP1A1):c.-78C>T	noncoding	Benign
1	116373534	G	A	G116373534A	ATP1A1	NM_000701.8(ATP1A1):c.12+11G>A	noncoding	Benign
1	116383811	G	A	G116383811A	ATP1A1	NM_000701.8(ATP1A1):c.13-203G>A	noncoding	Benign
1	116384040	A	G	A116384040G	ATP1A1	NM_000701.8(ATP1A1):c.39A>G:p.Ala13=	coding	Benign
1	116384061	T	C	T116384061C	ATP1A1	NM_000701.8(ATP1A1):c.60T>C:p.Asp20=	coding	Benign
1	116384349	C	G	C116384349G	ATP1A1	NM_000701.8(ATP1A1):c.123+225C>G	noncoding	Benign
1	116387559	A	T	A116387559T	ATP1A1	NM_000701.8(ATP1A1):c.387+68A>T	noncoding	Benign
1	116387668	C	G	C116387668G	ATP1A1	NM_000701.8(ATP1A1):c.387+177C>G	noncoding	Benign
1	116388401	A	G	A116388401G	ATP1A1	NM_000701.8(ATP1A1):c.501+157A>G	noncoding	Benign
1	116388487	A	C	A116388487C	ATP1A1	NM_000701.8(ATP1A1):c.502-151A>C	noncoding	Benign
1	116388603	G	A	G116388603A	ATP1A1	NM_000701.8(ATP1A1):c.502-35G>A	noncoding	Benign
1	116388885	C	T	C116388885T	ATP1A1	NM_000701.8(ATP1A1):c.637-17C>T	noncoding	Benign
1	116389006	C	A	C116389006A	ATP1A1	NM_000701.8(ATP1A1):c.741C>A:p.Thr247=	coding	Benign
1	116389331	T	C	T116389331C	ATP1A1	NM_000701.8(ATP1A1):c.755-108T>C	noncoding	Benign
1	116389362	A	T	A116389362T	ATP1A1	NM_000701.8(ATP1A1):c.755-77A>T	noncoding	Benign
1	116390113	T	G	T116390113G	ATP1A1	NM_000701.8(ATP1A1):c.1024-100T>G	noncoding	Benign
1	116390149	G	A	G116390149A	ATP1A1	NM_000701.8(ATP1A1):c.1024-64G>A	noncoding	Benign
1	116390299	G	A	G116390299A	ATP1A1	NM_000701.8(ATP1A1):c.1110G>A:p.Thr370=	coding	Benign
1	116390418	C	G	C116390418G	ATP1A1	NM_000701.8(ATP1A1):c.1222+7C>G	noncoding	Benign
1	116390430	C	T	C116390430T	ATP1A1	NM_000701.8(ATP1A1):c.1222+19C>T	noncoding	Benign
1	116390536	G	T	G116390536T	ATP1A1	NM_000701.8(ATP1A1):c.1222+125G>T	noncoding	Benign
1	116390750	G	A	G116390750A	ATP1A1	NM_000701.8(ATP1A1):c.1223-32G>A	noncoding	Benign
1	116392943	C	T	C116392943T	ATP1A1	NM_000701.8(ATP1A1):c.1422C>T:p.Tyr474=	coding	Benign
1	116393572	C	T	C116393572T	ATP1A1	NM_000701.8(ATP1A1):c.1509C>T:p.His503=	coding	Benign
1	116395106	G	A	G116395106A	ATP1A1	NM_000701.8(ATP1A1):c.1661-4G>A	noncoding	Benign
1	116395187	A	G	A116395187G	ATP1A1	NM_000701.8(ATP1A1):c.1738A>G:p.Ile580Val	coding	Benign
1	116395463	G	A	G116395463A	ATP1A1	NM_000701.8(ATP1A1):c.1836+178G>A	noncoding	Benign
1	116396950	A	C	A116396950C	ATP1A1	NM_000701.8(ATP1A1):c.1973+216A>C	noncoding	Benign
1	116397759	G	A	G116397759A	ATP1A1	NM_000701.8(ATP1A1):c.1974-129G>A	noncoding	Benign
1	116398482	C	T	C116398482T	ATP1A1	NM_000701.8(ATP1A1):c.2125-139C>T	noncoding	Benign
1	116398967	T	G	T116398967G	ATP1A1	NM_000701.8(ATP1A1):c.2331T>G:p.Ala777=	coding	Benign
1	116398991	C	T	C116398991T	ATP1A1	NM_000701.8(ATP1A1):c.2355C>T:p.Pro785=	coding	Benign/Likely_benign
1	116399075	C	T	C116399075T	ATP1A1	NM_000701.8(ATP1A1):c.2439C>T:p.Gly813=	coding	Benign
1	116399402	C	T	C116399402T	ATP1A1	NM_000701.8(ATP1A1):c.2449-18C>T	noncoding	Benign
1	116399446	G	A	G116399446A	ATP1A1	NM_000701.8(ATP1A1):c.2475G>A:p.Glu825=	coding	Benign
1	116399715	G	A	G116399715A	ATP1A1	NM_000701.8(ATP1A1):c.2572+172G>A	noncoding	Benign
1	116400994	C	T	C116400994T	ATP1A1	NM_000701.8(ATP1A1):c.2706C>T:p.Tyr902=	coding	Benign
1	116401150	C	T	C116401150T	ATP1A1	NM_000701.8(ATP1A1):c.2739C>T:p.Ile913=	coding	Benign
1	116403847	C	T	C116403847T	ATP1A1	NM_000701.8(ATP1A1):c.2952-37C>T	noncoding	Benign
1	116403938	C	T	C116403938T	ATP1A1	NM_000701.8(ATP1A1):c.3006C>T:p.Asp1002=	coding	Benign
1	116403983	T	C	T116403983C	ATP1A1	NM_000701.8(ATP1A1):c.3043+8T>C	noncoding	Benign
1	116404013	T	C	T116404013C	ATP1A1	NM_000701.8(ATP1A1):c.3043+38T>C	noncoding	Benign
1	116404429	G	A	G116404429A	ATP1A1	NM_000701.8(ATP1A1):c.3057G>A:p.Lys1019=	coding	Benign
1	116558335	A	G	A116558335G	CD58	NM_001779.3(CD58):c.70+12568T>C	noncoding	Benign
1	117011799	A	G	A117011799G	CD101	NM_001256106.3(CD101):c.674A>G:p.Asn225Ser	coding	Benign
1	117017436	C	G	C117017436G	CD101	NM_001256106.3(CD101):c.1575C>G:p.Ser525Arg	coding	Benign
1	118012317	C	T	C118012317T	SPAG17	NM_206996.4(SPAG17):c.4343G>A:p.Arg1448Gln	coding	Pathogenic
1	118884831	G	A	G118884831A	TBX15	NM_001330677.2(TBX15):c.1710C>T:p.Ser570=	coding	Benign
1	118885553	C	G	C118885553G	TBX15	NM_001330677.2(TBX15):c.1025-37G>C	noncoding	Benign
1	118885692	T	C	T118885692C	TBX15	NM_001330677.2(TBX15):c.1025-176A>G	noncoding	Benign
1	118885706	C	T	C118885706T	TBX15	NM_001330677.2(TBX15):c.1025-190G>A	noncoding	Benign
1	118885724	C	G	C118885724G	TBX15	NM_001330677.2(TBX15):c.1025-208G>C	noncoding	Benign
1	118898802	G	A	G118898802A	TBX15	NM_001330677.2(TBX15):c.1024+226C>T	noncoding	Benign
1	118899374	C	T	C118899374T	TBX15	NM_001330677.2(TBX15):c.927-249G>A	noncoding	Benign
1	118899402	C	A	C118899402A	TBX15	NM_001330677.2(TBX15):c.927-277G>T	noncoding	Benign
1	118913966	C	T	C118913966T	TBX15	NM_001330677.2(TBX15):c.926+149G>A	noncoding	Benign
1	118914158	G	A	G118914158A	TBX15	NM_001330677.2(TBX15):c.883C>T:p.Arg295Ter	coding	Pathogenic
1	118923170	A	G	A118923170G	TBX15	NM_001330677.2(TBX15):c.861+266T>C	noncoding	Benign
1	118923422	G	C	G118923422C	TBX15	NM_001330677.2(TBX15):c.861+14C>G	noncoding	Benign/Likely_benign
1	118923652	A	G	A118923652G	TBX15	NM_001330677.2(TBX15):c.694-49T>C	noncoding	Benign
1	118923751	G	T	G118923751T	TBX15	NM_001330677.2(TBX15):c.694-148C>A	noncoding	Benign
1	118923816	A	G	A118923816G	TBX15	NM_001330677.2(TBX15):c.694-213T>C	noncoding	Benign
1	118923900	C	G	C118923900G	TBX15	NM_001330677.2(TBX15):c.694-297G>C	noncoding	Benign
1	118924370	G	T	G118924370T	TBX15	NM_001330677.2(TBX15):c.693+276C>A	noncoding	Benign
1	118924504	C	T	C118924504T	TBX15	NM_001330677.2(TBX15):c.693+142G>A	noncoding	Benign
1	118926238	T	C	T118926238C	TBX15	NM_001330677.2(TBX15):c.521+272A>G	noncoding	Benign
1	118926565	G	T	G118926565T	TBX15	NM_001330677.2(TBX15):c.466C>A:p.His156Asn	coding	Benign
1	118926956	C	T	C118926956T	TBX15	NM_001330677.2(TBX15):c.420-345G>A	noncoding	Benign
1	118931353	A	G	A118931353G	TBX15	NM_001330677.2(TBX15):c.419+266T>C	noncoding	Benign
1	118932149	G	A	G118932149A	TBX15	NM_001330677.2(TBX15):c.206-317C>T	noncoding	Benign
1	118932167	G	A	G118932167A	TBX15	NM_001330677.2(TBX15):c.206-335C>T	noncoding	Benign
1	119032674	C	G	C119032674G	WARS2	NM_015836.4(WARS2):c.*237G>C	noncoding	Benign
1	119033195	C	G	C119033195G	WARS2	NM_015836.4(WARS2):c.799G>C:p.Ala267Pro	coding	Benign
1	119034281	G	A	G119034281A	WARS2	NM_015836.4(WARS2):c.516-68C>T	noncoding	Benign
1	119042326	G	A	G119042326A	WARS2	NM_015836.4(WARS2):c.453C>T:p.His151=	coding	Benign
1	119076499	C	G	C119076499G	WARS2	NM_015836.4(WARS2):c.199G>C:p.Asp67His	coding	Benign
1	119076825	G	T	G119076825T	WARS2	NM_015836.4(WARS2):c.91-218C>A	noncoding	Benign
1	119140440	G	A	G119140440A	WARS2	NM_015836.4(WARS2):c.90+115C>T	coding	Benign
1	119140594	C	T	C119140594T	WARS2	NM_015836.4(WARS2):c.51G>A:p.Arg17=	coding	Benign
1	119140767	G	A	G119140767A	WARS2	NR_125974.1(WARS2-AS1):n.372G>A	noncoding	Benign
1	119415434	C	A	C119415434A	HSD3B2	NM_000198.4(HSD3B2):c.15C>A:p.Cys5Ter	coding	Pathogenic
1	119419491	C	A	C119419491A	HSD3B2	NM_000198.4(HSD3B2):c.216C>A:p.Cys72Ter	coding	Pathogenic
1	119419519	G	A	G119419519A	HSD3B2	NM_000198.4(HSD3B2):c.244G>A:p.Ala82Thr	coding	Pathogenic
1	119419574	A	G	A119419574G	HSD3B2	NM_000198.4(HSD3B2):c.299A>G:p.Asn100Ser	coding	Pathogenic
1	119421512	C	T	C119421512T	HSD3B2	NM_000198.4(HSD3B2):c.308-297C>T	noncoding	Benign
1	119421632	T	C	T119421632C	HSD3B2	NM_000198.4(HSD3B2):c.308-177T>C	noncoding	Benign
1	119422166	C	A	C119422166A	HSD3B2	NM_000198.4(HSD3B2):c.665C>A:p.Pro222Gln	coding	Pathogenic
1	119422191	G	A	G119422191A	HSD3B2	NM_000198.4(HSD3B2):c.690G>A:p.Trp230Ter	coding	Pathogenic
1	119422466	C	A	C119422466A	HSD3B2	NM_000198.4(HSD3B2):c.965C>A:p.Ser322Ter	coding	Pathogenic
1	119422565	G	A	G119422565A	HSD3B2	NM_000198.4(HSD3B2):c.1064G>A:p.Trp355Ter	coding	Pathogenic/Likely_pathogenic
1	119511592	A	G	A119511592G	HSD3B1	NM_000862.3(HSD3B1):c.235A>G:p.Ile79Val	coding	Benign
1	119514623	C	A	C119514623A	HSD3B1	NM_000862.3(HSD3B1):c.1100C>A:p.Thr367Asn	coding	Benign
1	119712023	A	G	A119712023G	PHGDH	NM_006623.4(PHGDH):c.1A>G:p.Met1Val	coding	Pathogenic
1	119712024	T	C	T119712024C	PHGDH	NM_006623.4(PHGDH):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
1	119712044	A	T	A119712044T	PHGDH	NM_006623.4(PHGDH):c.22A>T:p.Lys8Ter	coding	Pathogenic
1	119712092	C	T	C119712092T	PHGDH	NM_006623.4(PHGDH):c.70C>T:p.Gln24Ter	coding	Pathogenic
1	119712140	G	T	G119712140T	PHGDH	NM_006623.4(PHGDH):c.118G>T:p.Glu40Ter	coding	Pathogenic
1	119714487	T	C	T119714487C	PHGDH	NM_006623.4(PHGDH):c.138+2327T>C	noncoding	Benign
1	119721020	T	C	T119721020C	PHGDH	NM_006623.4(PHGDH):c.139-150T>C	noncoding	Benign
1	119721034	A	G	A119721034G	PHGDH	NM_006623.4(PHGDH):c.139-136A>G	noncoding	Benign
1	119721477	C	G	C119721477G	PHGDH	NM_006623.4(PHGDH):c.290+156C>G	noncoding	Benign
1	119723433	C	A	C119723433A	PHGDH	NM_006623.4(PHGDH):c.348C>A:p.Cys116Ter	coding	Pathogenic
1	119726834	T	C	T119726834C	PHGDH	NM_006623.4(PHGDH):c.357-17T>C	noncoding	Benign/Likely_benign
1	119726850	G	A	G119726850A	PHGDH	NM_006623.4(PHGDH):c.357-1G>A	noncoding	Pathogenic
1	119726944	G	C	G119726944C	PHGDH	NM_006623.4(PHGDH):c.411+39G>C	noncoding	Benign
1	119735321	C	T	C119735321T	PHGDH	NM_006623.4(PHGDH):c.670C>T:p.Gln224Ter	coding	Pathogenic
1	119735360	G	T	G119735360T	PHGDH	NM_006623.4(PHGDH):c.709G>T:p.Gly237Ter	coding	Pathogenic
1	119735459	C	T	C119735459T	PHGDH	NM_006623.4(PHGDH):c.792+16C>T	noncoding	Benign
1	119735508	A	T	A119735508T	PHGDH	NM_006623.4(PHGDH):c.792+65A>T	noncoding	Benign
1	119735664	C	T	C119735664T	PHGDH	NM_006623.4(PHGDH):c.792+221C>T	noncoding	Benign
1	119737195	C	T	C119737195T	PHGDH	NM_006623.4(PHGDH):c.874C>T:p.Gln292Ter	coding	Pathogenic
1	119737210	G	T	G119737210T	PHGDH	NM_006623.4(PHGDH):c.889G>T:p.Glu297Ter	coding	Pathogenic
1	119740436	G	A	G119740436A	PHGDH	NM_006623.4(PHGDH):c.996G>A:p.Trp332Ter	coding	Pathogenic
1	119740503	C	T	C119740503T	PHGDH	NM_006623.4(PHGDH):c.1063C>T:p.Gln355Ter	coding	Pathogenic
1	119740515	C	T	C119740515T	PHGDH	NM_006623.4(PHGDH):c.1075C>T:p.Gln359Ter	coding	Pathogenic
1	119740626	A	G	A119740626G	PHGDH	NM_006623.4(PHGDH):c.1078+108A>G	noncoding	Benign
1	119741841	C	T	C119741841T	PHGDH	NM_006623.4(PHGDH):c.1153C>T:p.Gln385Ter	coding	Pathogenic
1	119741914	C	T	C119741914T	PHGDH	NM_006623.4(PHGDH):c.1209+17C>T	noncoding	Benign
1	119741916	C	T	C119741916T	PHGDH	NM_006623.4(PHGDH):c.1209+19C>T	noncoding	Benign
1	119742046	A	T	A119742046T	PHGDH	NM_006623.4(PHGDH):c.1209+149A>T	noncoding	Benign
1	119742071	C	T	C119742071T	PHGDH	NM_006623.4(PHGDH):c.1209+174C>T	noncoding	Benign
1	119742152	A	G	A119742152G	PHGDH	NM_006623.4(PHGDH):c.1209+255A>G	noncoding	Benign
1	119743834	G	T	G119743834T	PHGDH	NM_006623.4(PHGDH):c.1448-52G>T	noncoding	Benign
1	119744240	A	G	A119744240G	HMGCS2;PHGDH	NM_006623.3(PHGDH):c.*200A>G	noncoding	Benign/Likely_benign
1	119744318	G	A	G119744318A	PHGDH	Single_allele	noncoding	Benign
1	119744318	G	C	G119744318C	PHGDH	Single_allele	noncoding	Benign
1	119744322	G	A	G119744322A	PHGDH	Single_allele	noncoding	Benign
1	119744327	T	C	T119744327C	PHGDH	Single_allele	noncoding	Benign
1	119750546	T	C	T119750546C	HMGCS2	NM_005518.4(HMGCS2):c.*5+251A>G	noncoding	Benign
1	119750729	T	C	T119750729C	HMGCS2	NM_005518.4(HMGCS2):c.*5+68A>G	noncoding	Benign
1	119750744	T	C	T119750744C	HMGCS2	NM_005518.4(HMGCS2):c.*5+53A>G	noncoding	Benign
1	119750945	G	A	G119750945A	HMGCS2	NM_005518.4(HMGCS2):c.1421-37C>T	noncoding	Benign
1	119755524	A	T	A119755524T	HMGCS2	NM_005518.4(HMGCS2):c.1090T>A:p.Phe364Ile	coding	Pathogenic
1	119755584	C	A	C119755584A	HMGCS2	NM_005518.4(HMGCS2):c.1030G>T:p.Glu344Ter	coding	Pathogenic
1	119755599	T	C	T119755599C	HMGCS2	NM_005518.4(HMGCS2):c.1017-2A>G	noncoding	Pathogenic
1	119755911	A	T	A119755911T	HMGCS2	NM_005518.4(HMGCS2):c.1017-314T>A	noncoding	Benign
1	119757272	C	T	C119757272T	HMGCS2	NM_005518.4(HMGCS2):c.1016+1G>A	noncoding	Pathogenic
1	119757440	T	G	T119757440G	HMGCS2	NM_005518.4(HMGCS2):c.851-2A>C	noncoding	Pathogenic
1	119757495	T	C	T119757495C	HMGCS2	NM_005518.4(HMGCS2):c.851-57A>G	noncoding	Benign
1	119759251	A	C	A119759251C	HMGCS2	NM_005518.4(HMGCS2):c.717T>G:p.Tyr239Ter	coding	Pathogenic
1	119764164	G	A	G119764164A	HMGCS2	NM_005518.4(HMGCS2):c.559+8C>T	noncoding	Benign
1	119764171	C	T	C119764171T	HMGCS2	NM_005518.4(HMGCS2):c.559+1G>A	noncoding	Pathogenic
1	119915499	A	T	A119915499T	NOTCH2	NM_024408.4(NOTCH2):c.7223T>A:p.Leu2408His	coding	Benign/Likely_benign
1	119915636	G	A	G119915636A	NOTCH2	NM_024408.4(NOTCH2):c.7086C>T:p.Asp2362=	coding	Benign/Likely_benign
1	119916206	G	A	G119916206A	NOTCH2	NM_024408.4(NOTCH2):c.6516C>T:p.Ser2172=	coding	Benign/Likely_benign
1	119916236	G	A	G119916236A	NOTCH2	NM_024408.4(NOTCH2):c.6486C>T:p.Ser2162=	coding	Benign/Likely_benign
1	119916253	G	T	G119916253T	NOTCH2	NM_024408.4(NOTCH2):c.6469C>A:p.Pro2157Thr	coding	Benign
1	119916597	A	G	A119916597G	NOTCH2	NM_024408.4(NOTCH2):c.6125T>C:p.Met2042Thr	coding	Pathogenic
1	119916677	A	G	A119916677G	NOTCH2	NM_024408.4(NOTCH2):c.6045T>C:p.Phe2015=	coding	Benign
1	119916810	G	A	G119916810A	NOTCH2	NM_024408.4(NOTCH2):c.6028-116C>T	noncoding	Benign
1	119917618	G	T	G119917618T	NOTCH2	NM_024408.4(NOTCH2):c.6027+47C>A	noncoding	Benign
1	119917764	T	C	T119917764C	NOTCH2	NM_024408.4(NOTCH2):c.5930-2A>G	noncoding	Pathogenic
1	119918011	A	G	A119918011G	NOTCH2	NM_024408.4(NOTCH2):c.5930-249T>C	noncoding	Benign
1	119918630	C	T	C119918630T	NOTCH2	NM_024408.4(NOTCH2):c.5782-77G>A	noncoding	Benign
1	119919638	A	G	A119919638G	NOTCH2	NM_024408.4(NOTCH2):c.5480-25T>C	noncoding	Benign
1	119919845	C	T	C119919845T	NOTCH2	NM_024408.4(NOTCH2):c.5480-232G>A	noncoding	Benign
1	119920183	T	C	T119920183C	NOTCH2	NM_024408.4(NOTCH2):c.5479+46A>G	noncoding	Benign
1	119920421	C	T	C119920421T	NOTCH2	NM_024408.4(NOTCH2):c.5311-24G>A	noncoding	Benign
1	119920607	C	T	C119920607T	NOTCH2	NM_024408.4(NOTCH2):c.5311-210G>A	noncoding	Benign
1	119921542	C	T	C119921542T	NOTCH2	NM_024408.4(NOTCH2):c.5310+171G>A	noncoding	Benign
1	119921806	A	G	A119921806G	NOTCH2	NM_024408.4(NOTCH2):c.5217T>C:p.Asn1739=	coding	Benign
1	119921858	T	C	T119921858C	NOTCH2	NM_024408.4(NOTCH2):c.5214-49A>G	noncoding	Benign
1	119922639	C	A	C119922639A	NOTCH2	NM_024408.4(NOTCH2):c.4999G>T:p.Val1667Phe	coding	Benign/Likely_benign
1	119922639	C	T	C119922639T	NOTCH2	NM_024408.4(NOTCH2):c.4999G>A:p.Val1667Ile	coding	Benign/Likely_benign
1	119922815	T	G	T119922815G	NOTCH2	NM_024408.4(NOTCH2):c.4860-37A>C	noncoding	Benign
1	119922961	A	T	A119922961T	NOTCH2	NM_024408.4(NOTCH2):c.4860-183T>A	noncoding	Benign
1	119923485	G	A	G119923485A	NOTCH2	NM_024408.4(NOTCH2):c.4859+152C>T	noncoding	Benign
1	119923654	T	C	T119923654C	NOTCH2	NM_024408.4(NOTCH2):c.4842A>G:p.Gln1614=	coding	Benign
1	119924131	G	C	G119924131C	NOTCH2	NM_024408.4(NOTCH2):c.4512-147C>G	noncoding	Benign
1	119925694	G	A	G119925694A	NOTCH2	NM_024408.4(NOTCH2):c.4122C>T:p.Cys1374=	coding	Benign/Likely_benign
1	119926454	T	C	T119926454C	NOTCH2	NM_024408.4(NOTCH2):c.4005+45A>G	noncoding	Benign
1	119928801	C	T	C119928801T	NOTCH2	NM_024408.4(NOTCH2):c.3892+175G>A	noncoding	Benign
1	119929234	C	T	C119929234T	NOTCH2	NM_024408.4(NOTCH2):c.3656-22G>A	noncoding	Benign
1	119935375	C	A	C119935375A	NOTCH2	NM_024408.4(NOTCH2):c.3655+97G>T	coding	Benign
1	119935418	T	C	T119935418C	NOTCH2	NM_024408.4(NOTCH2):c.3655+54A>G	coding	Benign
1	119935662	T	C	T119935662C	NOTCH2	NM_024408.4(NOTCH2):c.3523-58A>G	noncoding	Benign
1	119935729	T	G	T119935729G	NOTCH2	NM_024408.4(NOTCH2):c.3523-125A>C	noncoding	Benign
1	119937771	T	C	T119937771C	NOTCH2	NM_024408.4(NOTCH2):c.3337+86A>G	noncoding	Benign
1	119938086	C	T	C119938086T	NOTCH2	NM_024408.4(NOTCH2):c.3184-76G>A	noncoding	Benign
1	119940267	C	T	C119940267T	NOTCH2	NM_024408.4(NOTCH2):c.3183+288G>A	noncoding	Benign
1	119940284	A	C	A119940284C	NOTCH2	NM_024408.4(NOTCH2):c.3183+271T>G	noncoding	Benign
1	119940874	T	C	T119940874C	NOTCH2	NM_024408.4(NOTCH2):c.2982-118A>G	noncoding	Benign
1	119941515	T	C	T119941515C	NOTCH2	NM_024408.4(NOTCH2):c.2981+11A>G	noncoding	Benign
1	119941798	G	A	G119941798A	NOTCH2	NM_024408.4(NOTCH2):c.2753-44C>T	noncoding	Benign
1	119948397	C	G	C119948397G	NOTCH2	NM_024408.4(NOTCH2):c.2752+17G>C	noncoding	Benign
1	119948678	G	C	G119948678C	NOTCH2	NM_024408.4(NOTCH2):c.2600-112C>G	noncoding	Benign
1	119949130	G	C	G119949130C	NOTCH2	NM_024408.4(NOTCH2):c.2480-4C>G	noncoding	Benign
1	119949175	G	A	G119949175A	NOTCH2	NM_024408.4(NOTCH2):c.2480-49C>T	noncoding	Benign
1	119950690	C	T	C119950690T	NOTCH2	NM_024408.4(NOTCH2):c.2479+34G>A	noncoding	Benign
1	119953311	G	C	G119953311C	NOTCH2	NM_024408.4(NOTCH2):c.2365+232C>G	noncoding	Benign
1	119953496	A	T	A119953496T	NOTCH2	NM_024408.4(NOTCH2):c.2365+47T>A	noncoding	Benign
1	119953504	A	C	A119953504C	NOTCH2	NM_024408.4(NOTCH2):c.2365+39T>G	noncoding	Benign
1	119955132	G	A	G119955132A	NOTCH2	NM_024408.4(NOTCH2):c.2127C>T:p.Pro709=	coding	Benign
1	119955463	G	C	G119955463C	NOTCH2	NM_024408.4(NOTCH2):c.2027-231C>G	noncoding	Benign
1	119959089	A	G	A119959089G	NOTCH2	NM_024408.4(NOTCH2):c.2026+303T>C	noncoding	Benign
1	119959141	T	C	T119959141C	NOTCH2	NM_024408.4(NOTCH2):c.2026+251A>G	noncoding	Benign
1	119963373	G	C	G119963373C	NOTCH2	NM_024408.4(NOTCH2):c.1915+201C>G	noncoding	Benign
1	119963409	G	A	G119963409A	NOTCH2	NM_024408.4(NOTCH2):c.1915+165C>T	noncoding	Benign
1	119963485	G	A	G119963485A	NOTCH2	NM_024408.4(NOTCH2):c.1915+89C>T	noncoding	Benign
1	119965444	G	T	G119965444T	NOTCH2	NM_024408.4(NOTCH2):c.1681+9C>A	noncoding	Benign/Likely_benign
1	119965466	G	T	G119965466T	NOTCH2	NM_024408.4(NOTCH2):c.1668C>A:p.Cys556Ter	coding	Pathogenic
1	119965583	G	A	G119965583A	NOTCH2	NM_024408.4(NOTCH2):c.1568-17C>T	noncoding	Benign
1	119965901	A	G	A119965901G	NOTCH2	NM_024408.4(NOTCH2):c.1568-335T>C	noncoding	Benign
1	119966180	T	C	T119966180C	NOTCH2	NM_024408.4(NOTCH2):c.1567+196A>G	noncoding	Benign
1	119966364	G	A	G119966364A	NOTCH2	NM_024408.4(NOTCH2):c.1567+12C>T	noncoding	Benign
1	119966402	T	C	T119966402C	NOTCH2	NM_024408.4(NOTCH2):c.1541A>G:p.Asn514Ser	coding	Benign/Likely_benign
1	119967443	C	T	C119967443T	NOTCH2	NM_024408.4(NOTCH2):c.1443G>A:p.Leu481=	coding	Benign/Likely_benign
1	119967587	A	G	A119967587G	NOTCH2	NM_024408.4(NOTCH2):c.1299T>C:p.Cys433=	coding	Benign
1	119968098	C	T	C119968098T	NOTCH2	NM_024408.4(NOTCH2):c.1243G>A:p.Asp415Asn	coding	Pathogenic
1	119968130	G	A	G119968130A	NOTCH2	NM_024408.4(NOTCH2):c.1211C>T:p.Pro404Leu	coding	Pathogenic
1	119968258	A	C	A119968258C	NOTCH2	NM_024408.4(NOTCH2):c.1109-26T>G	noncoding	Benign
1	119969481	T	C	T119969481C	NOTCH2	NM_024408.4(NOTCH2):c.1108+30A>G	noncoding	Benign
1	119969497	C	T	C119969497T	NOTCH2	NM_024408.4(NOTCH2):c.1108+14G>A	noncoding	Benign
1	119987127	A	C	A119987127C	NOTCH2	NM_024408.4(NOTCH2):c.752-45T>G	noncoding	Benign
1	119997313	C	T	C119997313T	NOTCH2	NM_024408.4(NOTCH2):c.435G>A:p.Thr145=	coding	Benign
1	120005286	C	A	C120005286A	NOTCH2	NM_024408.4(NOTCH2):c.415+43G>T	noncoding	Benign
1	120005472	C	A	C120005472A	NOTCH2	NM_024408.4(NOTCH2):c.272G>T:p.Arg91Leu	coding	Benign/Likely_benign
1	120029949	C	T	C120029949T	NOTCH2	NM_024408.4(NOTCH2):c.112G>A:p.Glu38Lys	coding	Benign
1	120069346	C	T	C120069346T	NOTCH2	NM_024408.4(NOTCH2):c.61G>A:p.Ala21Thr	coding	Benign
1	120069377	C	T	C120069377T	NOTCH2	NM_024408.4(NOTCH2):c.30G>A:p.Trp10Ter	coding	Pathogenic
1	120069392	G	A	G120069392A	NOTCH2	NM_024408.4(NOTCH2):c.15C>T:p.Arg5=	coding	Benign
1	120069404	C	G	C120069404G	NOTCH2	NM_024408.4(NOTCH2):c.3G>C:p.Met1Ile	coding	Benign
1	120069429	G	T	G120069429T	NOTCH2	NM_024408.4(NOTCH2):c.-23C>A	noncoding	Benign
1	120069437	C	G	C120069437G	NOTCH2	NM_024408.4(NOTCH2):c.-31G>C	noncoding	Benign
1	120069683	C	A	C120069683A	NOTCH2	Single_allele	noncoding	Benign
1	120069858	C	A	C120069858A	NOTCH2	Single_allele	noncoding	Benign
1	145912813	C	T	C145912813T	PEX11B	NM_003846.3(PEX11B):c.375-247G>A	noncoding	Benign
1	145916900	G	A	G145916900A	PEX11B	NM_003846.3(PEX11B):c.291C>T:p.Phe97=	coding	Benign
1	145917528	G	A	G145917528A	PEX11B	NM_003846.3(PEX11B):c.172+173C>T	noncoding	Benign
1	145917837	G	A	G145917837A	PEX11B	NM_003846.3(PEX11B):c.57-21C>T	noncoding	Benign
1	145917898	C	T	C145917898T	PEX11B	NM_003846.3(PEX11B):c.57-82G>A	noncoding	Benign
1	145918688	T	C	T145918688C	PEX11B	NM_003846.3(PEX11B):c.1A>G:p.Met1Val	coding	Pathogenic
1	145926026	C	T	C145926026T	RBM8A	NM_005105.5(RBM8A):c.479+15G>A	noncoding	Benign
1	145926179	T	C	T145926179C	RBM8A	NM_005105.5(RBM8A):c.343-2A>G	noncoding	Pathogenic
1	145926792	G	T	G145926792T	RBM8A	NM_005105.5(RBM8A):c.205+17C>A	noncoding	Benign/Likely_benign
1	145926888	T	C	T145926888C	RBM8A	NM_005105.5(RBM8A):c.128-2A>G	noncoding	Pathogenic
1	145927326	C	G	C145927326G	RBM8A	NM_005105.5(RBM8A):c.67+34G>C	noncoding	Pathogenic
1	145974824	G	A	G145974824A	POLR3GL	NM_032305.3(POLR3GL):c.-41-1G>A	noncoding	Pathogenic/Likely_pathogenic
1	145977482	G	A	G145977482A	POLR3GL	NM_032305.3(POLR3GL):c.326-1G>A	noncoding	Pathogenic/Likely_pathogenic
1	145977515	C	T	C145977515T	POLR3GL	NM_032305.3(POLR3GL):c.358C>T:p.Arg120Ter	coding	Pathogenic
1	146018957	G	A	G146018957A	HJV	NM_213653.4(HJV):c.657+218C>T	noncoding	Benign
1	146019187	G	C	G146019187C	HJV	NM_213653.4(HJV):c.645C>G:p.Thr215=	coding	Benign
1	146019338	A	T	A146019338T	HJV	NM_213653.4(HJV):c.494T>A:p.Leu165Ter	coding	Pathogenic
1	146019486	G	A	G146019486A	HJV	NM_213653.4(HJV):c.346C>T:p.Gln116Ter	coding	Pathogenic
1	146019501	C	A	C146019501A	HJV	NM_213653.4(HJV):c.331G>T:p.Glu111Ter	coding	Pathogenic
1	146019530	A	G	A146019530G	HJV	NM_213653.4(HJV):c.302T>C:p.Leu101Pro	coding	Pathogenic
1	146019645	G	A	G146019645A	HJV	NM_213653.4(HJV):c.187C>T:p.Arg63Ter	coding	Pathogenic
1	147242441	G	T	G147242441T	CHD1L	NM_001348451.2(CHD1L):c.-89-10182G>T	noncoding	Benign
1	147242563	C	T	C147242563T	CHD1L	NM_001348451.2(CHD1L):c.-89-10060C>T	noncoding	Benign
1	147242742	C	T	C147242742T	CHD1L	NM_004284.6(CHD1L):c.39C>T:p.Ala13=	coding	Benign
1	147242777	G	C	G147242777C	CHD1L	NM_004284.6(CHD1L):c.74G>C:p.Arg25Pro	coding	Benign
1	147252286	C	T	C147252286T	CHD1L	NM_004284.6(CHD1L):c.128-337C>T	noncoding	Benign
1	147252348	A	G	A147252348G	CHD1L	NM_004284.6(CHD1L):c.128-275A>G	noncoding	Benign
1	147252753	G	A	G147252753A	CHD1L	NM_004284.6(CHD1L):c.240+18G>A	noncoding	Benign
1	147254521	T	C	T147254521C	CHD1L	NM_004284.6(CHD1L):c.241-349T>C	noncoding	Benign
1	147255191	G	A	G147255191A	CHD1L	NM_004284.6(CHD1L):c.347+215G>A	noncoding	Benign
1	147255473	C	T	C147255473T	CHD1L	NM_004284.6(CHD1L):c.348-340C>T	noncoding	Benign
1	147255523	G	A	G147255523A	CHD1L	NM_004284.6(CHD1L):c.348-290G>A	noncoding	Benign
1	147255558	T	C	T147255558C	CHD1L	NM_004284.6(CHD1L):c.348-255T>C	noncoding	Benign
1	147255733	G	T	G147255733T	CHD1L	NM_004284.6(CHD1L):c.348-80G>T	noncoding	Benign
1	147255938	G	A	G147255938A	CHD1L	NM_004284.6(CHD1L):c.462+11G>A	noncoding	Benign
1	147256108	G	A	G147256108A	CHD1L	NM_004284.6(CHD1L):c.462+181G>A	noncoding	Benign
1	147256494	A	G	A147256494G	CHD1L	NM_004284.6(CHD1L):c.463-37A>G	noncoding	Benign
1	147260159	C	T	C147260159T	CHD1L	NM_004284.6(CHD1L):c.576+241C>T	noncoding	Benign
1	147264152	T	C	T147264152C	CHD1L	NM_004284.6(CHD1L):c.577-270T>C	noncoding	Benign
1	147264433	C	T	C147264433T	CHD1L	NM_004284.6(CHD1L):c.588C>T:p.Val196=	coding	Benign
1	147264889	G	T	G147264889T	CHD1L	NM_004284.6(CHD1L):c.739+305G>T	noncoding	Benign
1	147265684	A	C	A147265684C	CHD1L	NM_004284.6(CHD1L):c.740-248A>C	noncoding	Benign
1	147265698	G	T	G147265698T	CHD1L	NM_004284.6(CHD1L):c.740-234G>T	noncoding	Benign
1	147265831	G	C	G147265831C	CHD1L	NM_004284.6(CHD1L):c.740-101G>C	noncoding	Benign
1	147267409	T	C	T147267409C	CHD1L	NM_004284.6(CHD1L):c.896-17T>C	noncoding	Benign
1	147268843	C	G	C147268843G	CHD1L	NM_004284.6(CHD1L):c.1050C>G:p.His350Gln	coding	Benign
1	147271257	G	A	G147271257A	CHD1L	NM_004284.6(CHD1L):c.1159+252G>A	noncoding	Benign
1	147275229	G	A	G147275229A	CHD1L	NM_004284.6(CHD1L):c.1271-125G>A	noncoding	Benign
1	147275756	G	T	G147275756T	CHD1L	NM_004284.6(CHD1L):c.1385+288G>T	noncoding	Benign
1	147275797	G	A	G147275797A	CHD1L	NM_004284.6(CHD1L):c.1386-307G>A	noncoding	Benign
1	147279737	C	A	C147279737A	CHD1L	NM_004284.6(CHD1L):c.1540-289C>A	noncoding	Benign
1	147280037	A	G	A147280037G	CHD1L	NM_004284.6(CHD1L):c.1551A>G:p.Ile517Met	coding	Benign
1	147284111	A	G	A147284111G	CHD1L	NM_004284.6(CHD1L):c.1706-240A>G	noncoding	Benign
1	147286246	G	A	G147286246A	CHD1L	NM_004284.6(CHD1L):c.2019-52G>A	noncoding	Benign
1	147286377	G	A	G147286377A	CHD1L	NM_004284.6(CHD1L):c.2098G>A:p.Gly700Arg	coding	Benign
1	147286698	A	T	A147286698T	CHD1L	NM_004284.6(CHD1L):c.2221+198A>T	noncoding	Benign
1	147287627	T	C	T147287627C	CHD1L	NM_004284.6(CHD1L):c.2222-8T>C	noncoding	Benign
1	147287641	C	G	C147287641G	CHD1L	NM_004284.6(CHD1L):c.2228C>G:p.Ser743Cys	coding	Benign
1	147291302	A	C	A147291302C	CHD1L	NM_004284.6(CHD1L):c.2321-180A>C	noncoding	Benign
1	147291303	G	A	G147291303A	CHD1L	NM_004284.6(CHD1L):c.2321-179G>A	noncoding	Benign
1	147293770	C	G	C147293770G	CHD1L	NM_004284.6(CHD1L):c.2506+48C>G	noncoding	Benign
1	147293933	C	T	C147293933T	CHD1L	NM_004284.6(CHD1L):c.2506+211C>T	noncoding	Benign
1	147295381	A	G	A147295381G	CHD1L	NM_004284.6(CHD1L):c.2616-50A>G	noncoding	Benign
1	147295672	G	A	G147295672A	CHD1L	NM_004284.6(CHD1L):c.*163G>A	noncoding	Benign
1	147758767	G	A	G147758767A	GJA5	NM_181703.4(GJA5):c.472C>T:p.Leu158=	coding	Benign
1	147759265	A	G	A147759265G	GJA5	NM_181703.4(GJA5):c.-27T>C	noncoding	Benign/Likely_benign
1	147759579	G	C	G147759579C	GJA5	NM_181703.4(GJA5):c.-33-308C>G	noncoding	Benign
1	147773279	T	C	T147773279C	GJA5	NM_005266.7(GJA5):c.-61A>G	noncoding	Benign/Likely_benign
1	147907615	A	G	A147907615G	GJA8	NM_005267.5(GJA8):c.-11-330A>G	noncoding	Benign
1	147907814	A	G	A147907814G	GJA8	NM_005267.5(GJA8):c.-11-131A>G	noncoding	Benign
1	147907897	G	T	G147907897T	GJA8	NM_005267.5(GJA8):c.-11-48G>T	noncoding	Benign
1	147908085	G	A	G147908085A	GJA8	NM_005267.5(GJA8):c.130G>A:p.Val44Met	coding	Pathogenic
1	147908106	G	A	G147908106A	GJA8	NM_005267.5(GJA8):c.151G>A:p.Asp51Asn	coding	Pathogenic
1	147908181	C	T	C147908181T	GJA8	NM_005267.5(GJA8):c.226C>T:p.Arg76Cys	coding	Pathogenic
1	147908182	G	A	G147908182A	GJA8	NM_005267.5(GJA8):c.227G>A:p.Arg76His	coding	Pathogenic
1	147908218	C	T	C147908218T	GJA8	NM_005267.5(GJA8):c.263C>T:p.Pro88Leu	coding	Pathogenic
1	147908236	G	A	G147908236A	GJA8	NM_005267.5(GJA8):c.281G>A:p.Gly94Glu	coding	Pathogenic
1	148931908	C	G	C148931908G	PDE4DIP	NM_001395426.1(PDE4DIP):c.525C>G:p.Ile175Met	coding	Pathogenic
1	148953147	G	A	G148953147A	PDE4DIP	NM_001395426.1(PDE4DIP):c.835-7507G>A	coding	Pathogenic
1	148968914	C	T	C148968914T	PDE4DIP	NM_001395426.1(PDE4DIP):c.2062C>T:p.Arg688Ter	coding	Pathogenic
1	149005085	C	T	C149005085T	PDE4DIP	NM_001395426.1(PDE4DIP):c.4261C>T:p.Arg1421Ter	coding	Pathogenic
1	149791405	T	C	T149791405C	FCGR1A	NM_000566.4(FCGR1A):c.1013T>C:p.Ile338Thr	coding	Benign/Likely_benign
1	149923293	T	C	T149923293C	SF3B4	Single_allele	noncoding	Benign
1	149924013	C	A	C149924013A	SF3B4	NM_005850.5(SF3B4):c.915G>T:p.Gly305=	coding	Benign
1	149925636	T	A	T149925636A	SF3B4	NM_005850.5(SF3B4):c.913+200A>T	noncoding	Benign
1	149926074	T	G	T149926074G	SF3B4	NM_005850.5(SF3B4):c.707-32A>C	noncoding	Benign
1	149926178	T	C	T149926178C	SF3B4	NM_005850.5(SF3B4):c.707-136A>G	noncoding	Benign
1	149927059	G	C	G149927059C	SF3B4	NM_005850.5(SF3B4):c.163+107C>G	noncoding	Benign
1	149927295	C	T	C149927295T	SF3B4	NM_005850.5(SF3B4):c.35-1G>A	coding	Pathogenic
1	149927497	G	A	G149927497A	SF3B4	NM_005850.5(SF3B4):c.35-203C>T	noncoding	Benign
1	149927758	A	G	A149927758G	SF3B4	NM_005850.5(SF3B4):c.2T>C:p.Met1Thr	coding	Pathogenic
1	149927875	G	A	G149927875A	SF3B4	NM_005850.4(SF3B4):c.-116C>T	noncoding	Benign
1	149927993	A	G	A149927993G	SF3B4	NM_005850.4(SF3B4):c.-234T>C	noncoding	Benign
1	149928056	G	A	G149928056A	SF3B4	NM_005850.4(SF3B4):c.-297C>T	noncoding	Benign
1	149928372	G	C	G149928372C	SF3B4	Single_allele	noncoding	Benign
1	150066990	G	A	G150066990A	VPS45	Single_allele	noncoding	Benign
1	150067150	C	A	C150067150A	VPS45	Single_allele	noncoding	Benign
1	150067240	T	C	T150067240C	VPS45	Single_allele	noncoding	Benign
1	150067346	T	A	T150067346A	VPS45	Single_allele	noncoding	Benign
1	150068866	G	A	G150068866A	VPS45	NM_007259.5(VPS45):c.228+102G>A	noncoding	Benign
1	150072072	C	T	C150072072T	VPS45	NM_007259.5(VPS45):c.229-94C>T	noncoding	Benign
1	150072257	G	A	G150072257A	VPS45	NM_007259.5(VPS45):c.289+31G>A	noncoding	Benign
1	150076219	C	T	C150076219T	VPS45	NM_007259.5(VPS45):c.290-14C>T	noncoding	Benign
1	150076341	C	T	C150076341T	VPS45	NM_007259.5(VPS45):c.369+29C>T	noncoding	Benign
1	150076442	C	T	C150076442T	VPS45	NM_007259.5(VPS45):c.369+130C>T	noncoding	Benign
1	150076793	A	T	A150076793T	VPS45	NM_007259.5(VPS45):c.370-123A>T	noncoding	Benign
1	150077351	G	A	G150077351A	VPS45	NM_007259.5(VPS45):c.576+120G>A	noncoding	Benign
1	150077384	A	G	A150077384G	VPS45	NM_007259.5(VPS45):c.576+153A>G	noncoding	Benign
1	150077856	A	G	A150077856G	VPS45	NM_007259.5(VPS45):c.687+77A>G	noncoding	Benign
1	150077904	C	T	C150077904T	VPS45	NM_007259.5(VPS45):c.687+125C>T	noncoding	Benign
1	150077980	G	A	G150077980A	VPS45	NM_007259.5(VPS45):c.687+201G>A	noncoding	Benign
1	150081222	G	A	G150081222A	VPS45	NM_007259.5(VPS45):c.688-120G>A	noncoding	Benign
1	150081307	T	C	T150081307C	VPS45	NM_007259.5(VPS45):c.688-35T>C	noncoding	Benign
1	150082688	C	T	C150082688T	VPS45	NM_007259.5(VPS45):c.937-28C>T	noncoding	Benign
1	150082700	G	A	G150082700A	VPS45	NM_007259.5(VPS45):c.937-16G>A	noncoding	Benign
1	150082937	G	A	G150082937A	VPS45	NM_007259.5(VPS45):c.1104+54G>A	noncoding	Benign
1	150091777	G	C	G150091777C	VPS45	NM_007259.5(VPS45):c.1105-160G>C	noncoding	Benign
1	150091811	A	G	A150091811G	VPS45	NM_007259.5(VPS45):c.1105-126A>G	noncoding	Benign
1	150091842	G	A	G150091842A	VPS45	NM_007259.5(VPS45):c.1105-95G>A	noncoding	Benign
1	150093191	T	C	T150093191C	VPS45	NM_007259.5(VPS45):c.1372-336T>C	noncoding	Benign
1	150110352	T	G	T150110352G	VPS45	NM_007259.5(VPS45):c.1494-144T>G	noncoding	Benign
1	150144695	A	C	A150144695C	VPS45	NM_007259.5(VPS45):c.1626-14A>C	noncoding	Benign
1	150324779	C	A	C150324779A	PRPF3	NM_004698.4(PRPF3):c.-48-116C>A	noncoding	Benign
1	150324787	T	C	T150324787C	PRPF3	NM_004698.4(PRPF3):c.-48-108T>C	noncoding	Benign
1	150325557	C	T	C150325557T	PRPF3	NM_004698.4(PRPF3):c.146-194C>T	noncoding	Benign
1	150325734	G	A	G150325734A	PRPF3	NM_004698.4(PRPF3):c.146-17G>A	noncoding	Benign
1	150334920	C	T	C150334920T	PRPF3	NM_004698.4(PRPF3):c.729-15C>T	noncoding	Benign/Likely_benign
1	150338351	A	C	A150338351C	PRPF3	NM_004698.4(PRPF3):c.1202+25A>C	noncoding	Benign
1	150344199	A	G	A150344199G	PRPF3	NM_004698.4(PRPF3):c.1464A>G:p.Glu488=	coding	Benign
1	150345893	G	A	G150345893A	PRPF3	NM_004698.4(PRPF3):c.1641-125G>A	noncoding	Benign
1	150346605	T	A	T150346605A	PRPF3	NM_004698.4(PRPF3):c.1843+114T>A	noncoding	Benign
1	150349010	G	A	G150349010A	PRPF3	NM_004698.4(PRPF3):c.1844-147G>A	noncoding	Benign
1	150349148	C	A	C150349148A	PRPF3	NM_004698.4(PRPF3):c.1844-9C>A	noncoding	Benign
1	150349210	G	C	G150349210C	PRPF3	NM_004698.4(PRPF3):c.1897G>C:p.Val633Leu	coding	Benign
1	150349322	T	G	T150349322G	PRPF3	NM_004698.4(PRPF3):c.1905+104T>G	noncoding	Benign
1	150352755	A	G	A150352755G	PRPF3	NM_004698.4(PRPF3):c.1906-78A>G	noncoding	Benign
1	150490427	T	A	T150490427A	TARS2	NM_025150.5(TARS2):c.388-174T>A	noncoding	Benign
1	150490683	C	G	C150490683G	TARS2	NM_025150.5(TARS2):c.470C>G:p.Thr157Arg	coding	Pathogenic
1	150491050	T	C	T150491050C	TARS2	NM_025150.5(TARS2):c.512+325T>C	noncoding	Benign
1	150491443	C	A	C150491443A	TARS2	NM_025150.5(TARS2):c.562C>A:p.Leu188Ile	coding	Benign/Likely_benign
1	150496780	G	T	G150496780T	TARS2	NM_025150.5(TARS2):c.922-30G>T	noncoding	Benign
1	150497543	A	G	A150497543G	TARS2	NM_025150.5(TARS2):c.1034A>G:p.His345Arg	coding	Benign/Likely_benign
1	150498488	C	T	C150498488T	TARS2	NM_025150.5(TARS2):c.1239-14C>T	noncoding	Benign/Likely_benign
1	150498537	A	G	A150498537G	TARS2	NM_025150.5(TARS2):c.1274A>G:p.Glu425Gly	coding	Pathogenic/Likely_pathogenic
1	150498548	C	T	C150498548T	TARS2	NM_025150.5(TARS2):c.1285C>T:p.Arg429Ter	coding	Pathogenic/Likely_pathogenic
1	150504310	G	A	G150504310A	TARS2	NM_025150.5(TARS2):c.1618-25G>A	noncoding	Benign
1	150504615	C	A	C150504615A	TARS2	NM_025150.5(TARS2):c.1719-17C>A	noncoding	Benign/Likely_benign
1	150504616	C	T	C150504616T	TARS2	NM_025150.5(TARS2):c.1719-16C>T	noncoding	Benign/Likely_benign
1	150504774	G	A	G150504774A	TARS2	NM_025150.5(TARS2):c.1820+41G>A	noncoding	Benign
1	150504923	C	T	C150504923T	TARS2	NM_025150.5(TARS2):c.1838C>T:p.Pro613Leu	coding	Pathogenic/Likely_pathogenic
1	150505364	G	C	G150505364C	TARS2	NM_025150.5(TARS2):c.1894-227G>C	noncoding	Benign
1	150506959	G	C	G150506959C	TARS2	NM_025150.5(TARS2):c.2052G>C:p.Arg684=	coding	Benign
1	150507050	G	A	G150507050A	TARS2	NM_025150.5(TARS2):c.2143G>A:p.Glu715Lys	coding	Pathogenic
1	150507366	A	G	A150507366G	TARS2	NM_025150.5(TARS2):c.*302A>G	noncoding	Benign
1	150507897	G	T	G150507897T	ECM1	Single_allele	noncoding	Benign
1	150508095	G	A	G150508095A	ECM1	Single_allele	noncoding	Benign
1	150508113	G	A	G150508113A	ECM1	NM_004425.4(ECM1):c.-97G>A	noncoding	Benign
1	150509262	C	T	C150509262T	ECM1	NM_004425.4(ECM1):c.71-269C>T	noncoding	Benign
1	150509420	C	T	C150509420T	ECM1	NM_004425.4(ECM1):c.71-111C>T	noncoding	Benign
1	150509779	A	G	A150509779G	ECM1	NM_004425.4(ECM1):c.223+17A>G	noncoding	Benign
1	150510262	G	A	G150510262A	ECM1	NM_004425.4(ECM1):c.385+80G>A	noncoding	Benign
1	150510760	A	C	A150510760C	ECM1	NM_004425.4(ECM1):c.386-116A>C	noncoding	Benign
1	150510879	C	T	C150510879T	ECM1	NM_004425.4(ECM1):c.389C>T:p.Thr130Met	coding	Benign
1	150511364	C	T	C150511364T	ECM1	NM_004425.4(ECM1):c.709-93C>T	noncoding	Benign
1	150511528	G	A	G150511528A	ECM1	NM_004425.4(ECM1):c.780G>A:p.Thr260=	coding	Benign
1	150511554	G	A	G150511554A	ECM1	NM_004425.4(ECM1):c.806G>A:p.Cys269Tyr	coding	Pathogenic
1	150512079	C	G	C150512079G	ECM1	NM_004425.4(ECM1):c.1083+248C>G	noncoding	Benign
1	150512511	G	A	G150512511A	ECM1	NM_004425.4(ECM1):c.1243G>A:p.Gly415Ser	coding	Benign
1	150512700	C	T	C150512700T	ECM1	NM_004425.4(ECM1):c.1305-25C>T	noncoding	Benign
1	150513055	T	C	T150513055C	ECM1	NM_004425.4(ECM1):c.1393-182T>C	noncoding	Benign
1	150513090	T	G	T150513090G	ECM1	NM_004425.4(ECM1):c.1393-147T>G	noncoding	Benign
1	150513095	T	C	T150513095C	ECM1	NM_004425.4(ECM1):c.1393-142T>C	noncoding	Benign
1	150513123	G	A	G150513123A	ECM1	NM_004425.4(ECM1):c.1393-114G>A	noncoding	Benign
1	150513763	C	G	C150513763G	ECM1	NM_004425.4(ECM1):c.*296C>G	noncoding	Benign
1	150553606	C	T	C150553606T	ADAMTSL4	NM_019032.6(ADAMTSL4):c.615C>T:p.Ser205=	coding	Benign
1	150553941	G	A	G150553941A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.950G>A:p.Trp317Ter	coding	Pathogenic
1	150554311	C	A	C150554311A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1132-54C>A	noncoding	Benign
1	150554412	C	T	C150554412T	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1179C>T:p.Ala393=	coding	Benign/Likely_benign
1	150554633	T	C	T150554633C	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1234+166T>C	coding	Benign
1	150554816	G	A	G150554816A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1234+349G>A	noncoding	Benign
1	150554818	C	T	C150554818T	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1234+351C>T	noncoding	Benign
1	150554878	G	A	G150554878A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1234+411G>A	noncoding	Benign
1	150554915	T	C	T150554915C	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1234+448T>C	noncoding	Benign
1	150555239	C	T	C150555239T	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1235-190C>T	noncoding	Benign
1	150555246	C	T	C150555246T	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1235-183C>T	noncoding	Benign
1	150555721	A	G	A150555721G	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1371+156A>G	noncoding	Benign
1	150555732	C	T	C150555732T	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1371+167C>T	noncoding	Benign
1	150556409	G	A	G150556409A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1576+43G>A	noncoding	Benign
1	150556766	C	T	C150556766T	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1722C>T:p.Gly574=	coding	Benign
1	150557044	C	T	C150557044T	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1855C>T:p.Gln619Ter	coding	Pathogenic
1	150557360	G	A	G150557360A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2047+25G>A	noncoding	Benign
1	150557679	C	T	C150557679T	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2177+56C>T	noncoding	Benign
1	150557798	C	A	C150557798A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2178-147C>A	noncoding	Benign
1	150558004	G	A	G150558004A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2237G>A:p.Arg746His	coding	Pathogenic
1	150558021	C	T	C150558021T	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2254C>T:p.Gln752Ter	coding	Pathogenic
1	150558844	G	A	G150558844A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2560-118G>A	noncoding	Benign
1	150558884	G	A	G150558884A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2560-78G>A	noncoding	Benign
1	150558904	T	C	T150558904C	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2560-58T>C	noncoding	Benign
1	150558938	A	C	A150558938C	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2560-24A>C	noncoding	Benign
1	150558945	G	A	G150558945A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2560-17G>A	noncoding	Benign
1	150558982	G	A	G150558982A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2580G>A:p.Thr860=	coding	Benign/Likely_benign
1	150558996	G	A	G150558996A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2594G>A:p.Arg865His	coding	Pathogenic/Likely_pathogenic
1	150559106	G	A	G150559106A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2704G>A:p.Ala902Thr	coding	Benign/Likely_benign
1	150559153	G	A	G150559153A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2751G>A:p.Gly917=	coding	Benign
1	150559177	G	A	G150559177A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2763+12G>A	noncoding	Benign/Likely_benign
1	150559459	G	A	G150559459A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2936G>A:p.Trp979Ter	coding	Pathogenic
1	150559483	G	A	G150559483A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2943+17G>A	noncoding	Benign
1	150560149	C	G	C150560149G	ADAMTSL4	NM_019032.6(ADAMTSL4):c.3178C>G:p.Arg1060Gly	coding	Benign/Likely_benign
1	150703321	G	A	G150703321A	HORMAD1	NM_032132.5(HORMAD1):c.1021C>T:p.Gln341Ter	coding	Pathogenic
1	150796863	A	G	A150796863G	CTSK	NM_000396.4(CTSK):c.926T>C:p.Leu309Pro	coding	Pathogenic/Likely_pathogenic
1	150796882	C	T	C150796882T	CTSK	NM_000396.4(CTSK):c.907G>A:p.Gly303Arg	coding	Pathogenic
1	150796895	C	T	C150796895T	CTSK	NM_000396.4(CTSK):c.894G>A:p.Trp298Ter	coding	Pathogenic
1	150799227	T	C	T150799227C	CTSK	NM_000396.4(CTSK):c.831A>G:p.Ala277=	coding	Benign
1	150799293	C	T	C150799293T	CTSK	NM_000396.4(CTSK):c.785-20G>A	noncoding	Benign
1	150804071	G	A	G150804071A	CTSK	NM_000396.4(CTSK):c.568C>T:p.Gln190Ter	coding	Pathogenic/Likely_pathogenic
1	150804220	C	T	C150804220T	CTSK	NM_000396.4(CTSK):c.419G>A:p.Trp140Ter	coding	Pathogenic
1	150805860	C	T	C150805860T	CTSK	NM_000396.4(CTSK):c.399+1G>A	noncoding	Pathogenic
1	150805896	G	A	G150805896A	CTSK	NM_000396.4(CTSK):c.364C>T:p.Arg122Ter	coding	Pathogenic
1	150806007	C	A	C150806007A	CTSK	NM_000396.4(CTSK):c.253G>T:p.Glu85Ter	coding	Pathogenic
1	150806084	A	T	A150806084T	CTSK	NM_000396.4(CTSK):c.243+18T>A	noncoding	Benign
1	150806132	A	T	A150806132T	CTSK	NM_000396.4(CTSK):c.213T>A:p.Tyr71Ter	coding	Pathogenic/Likely_pathogenic
1	150806226	T	C	T150806226C	CTSK	NM_000396.4(CTSK):c.121-2A>G	noncoding	Pathogenic/Likely_pathogenic
1	150806685	C	A	C150806685A	CTSK	NM_000396.4(CTSK):c.120+1G>T	noncoding	Pathogenic
1	150806925	G	A	G150806925A	CTSK	NM_000396.4(CTSK):c.-1-119C>T	noncoding	Benign
1	150807048	T	A	T150807048A	CTSK	NM_000396.4(CTSK):c.-1-242A>T	noncoding	Benign
1	150807080	T	A	T150807080A	CTSK	NM_000396.4(CTSK):c.-1-274A>T	noncoding	Benign
1	151017860	G	A	G151017860A	PRUNE1	NM_021222.3(PRUNE1):c.88G>A:p.Asp30Asn	coding	Pathogenic/Likely_pathogenic
1	151018466	G	T	G151018466T	PRUNE1	NM_021222.3(PRUNE1):c.133-1G>T	noncoding	Pathogenic
1	151024658	G	A	G151024658A	PRUNE1	NM_021222.3(PRUNE1):c.383G>A:p.Arg128Gln	coding	Pathogenic/Likely_pathogenic
1	151024790	T	C	T151024790C	PRUNE1	NM_021222.3(PRUNE1):c.515T>C:p.Leu172Pro	coding	Pathogenic
1	151025534	T	A	T151025534A	PRUNE1	NM_021222.3(PRUNE1):c.540T>A:p.Cys180Ter	coding	Pathogenic
1	151166963	C	A	C151166963A	SCNM1	NM_024041.4(SCNM1):c.152C>A:p.Pro51Gln	coding	Pathogenic
1	151286567	C	T	C151286567T	ZNF687	NM_020832.3(ZNF687):c.276C>T:p.Pro92=	coding	Benign
1	151287067	G	A	G151287067A	ZNF687	NM_020832.3(ZNF687):c.776G>A:p.Gly259Glu	coding	Benign
1	151288197	G	A	G151288197A	ZNF687	NM_020832.3(ZNF687):c.1906G>A:p.Gly636Ser	coding	Benign
1	151291306	A	G	A151291306G	ZNF687	NM_020832.3(ZNF687):c.*97A>G	noncoding	Benign
1	151344445	G	A	G151344445A	RFX5	NM_001025603.2(RFX5):c.445C>T:p.Arg149Ter	coding	Pathogenic
1	151344808	A	C	A151344808C	RFX5	NM_001025603.2(RFX5):c.273T>G:p.Tyr91Ter	coding	Pathogenic
1	151345189	C	T	C151345189T	RFX5	NM_001025603.2(RFX5):c.151-1G>A	coding	Pathogenic
1	151399605	G	A	G151399605A	PSMB4	NM_002796.3(PSMB4):c.18G>A:p.Gly6=	coding	Benign
1	151399662	G	A	G151399662A	PSMB4	NM_002796.3(PSMB4):c.75G>A:p.Pro25=	coding	Benign
1	151400176	C	T	C151400176T	PSMB4	NM_002796.3(PSMB4):c.336C>T:p.Leu112=	coding	Benign
1	151400203	A	G	A151400203G	PSMB4	NM_002796.3(PSMB4):c.347+16A>G	noncoding	Benign
1	151400553	C	T	C151400553T	PSMB4	NM_002796.3(PSMB4):c.459C>T:p.Asn153=	coding	Benign
1	151400724	T	C	T151400724C	PSMB4	NM_002796.3(PSMB4):c.495-40T>C	noncoding	Benign
1	151401219	T	C	T151401219C	PSMB4	NM_002796.3(PSMB4):c.577-20T>C	noncoding	Benign
1	151401549	T	C	T151401549C	PSMB4	NM_002796.3(PSMB4):c.701T>C:p.Ile234Thr	coding	Benign
1	151401799	T	C	T151401799C	PSMB4	NM_002796.3(PSMB4):c.783-18T>C	noncoding	Benign
1	151404772	T	C	T151404772C	POGZ	NM_015100.4(POGZ):c.*30A>G	noncoding	Benign
1	151404829	T	A	T151404829A	POGZ	NM_015100.4(POGZ):c.4206A>T:p.Glu1402Asp	coding	Benign/Likely_benign
1	151404946	A	C	A151404946C	POGZ	NM_015100.4(POGZ):c.4089T>G:p.His1363Gln	coding	Benign/Likely_benign
1	151405137	G	A	G151405137A	POGZ	NM_015100.4(POGZ):c.3898C>T:p.Leu1300=	coding	Benign
1	151405148	A	G	A151405148G	POGZ	NM_015100.4(POGZ):c.3887T>C:p.Val1296Ala	coding	Benign
1	151405437	T	C	T151405437C	POGZ	NM_015100.4(POGZ):c.3598A>G:p.Ser1200Gly	coding	Benign
1	151405611	G	A	G151405611A	POGZ	NM_015100.4(POGZ):c.3424C>T:p.Arg1142Ter	coding	Pathogenic/Likely_pathogenic
1	151405679	A	T	A151405679T	POGZ	NM_015100.4(POGZ):c.3356T>A:p.Leu1119Ter	coding	Pathogenic
1	151405906	T	C	T151405906C	POGZ	NM_015100.4(POGZ):c.3129A>G:p.Leu1043=	coding	Benign/Likely_benign
1	151405914	G	A	G151405914A	POGZ	NM_015100.4(POGZ):c.3121C>T:p.Gln1041Ter	coding	Pathogenic
1	151405917	C	T	C151405917T	POGZ	NM_015100.4(POGZ):c.3118G>A:p.Glu1040Lys	coding	Pathogenic
1	151405995	G	A	G151405995A	POGZ	NM_015100.4(POGZ):c.3040C>T:p.Gln1014Ter	coding	Pathogenic
1	151406606	C	A	C151406606A	POGZ	NM_015100.4(POGZ):c.2570+1G>T	noncoding	Pathogenic
1	151406618	T	C	T151406618C	POGZ	NM_015100.4(POGZ):c.2559A>G:p.Ile853Met	coding	Benign/Likely_benign
1	151406774	G	A	G151406774A	POGZ	NM_015100.4(POGZ):c.2545+137C>T	noncoding	Benign
1	151406963	G	C	G151406963C	POGZ	NM_015100.4(POGZ):c.2493C>G:p.Ala831=	coding	Benign/Likely_benign
1	151407005	G	A	G151407005A	POGZ	NM_015100.4(POGZ):c.2451C>T:p.Cys817=	coding	Benign/Likely_benign
1	151407026	A	G	A151407026G	POGZ	NM_015100.4(POGZ):c.2433-3T>C	noncoding	Benign/Likely_benign
1	151407314	A	G	A151407314G	POGZ	NM_015100.4(POGZ):c.2376-23T>C	noncoding	Benign
1	151408055	G	T	G151408055T	POGZ	NM_015100.4(POGZ):c.2375+45C>A	noncoding	Benign
1	151408165	G	A	G151408165A	POGZ	NM_015100.4(POGZ):c.2310C>T:p.Tyr770=	coding	Benign/Likely_benign
1	151408249	G	A	G151408249A	POGZ	NM_015100.4(POGZ):c.2235-9C>T	noncoding	Benign
1	151408251	A	G	A151408251G	POGZ	NM_015100.4(POGZ):c.2235-11T>C	noncoding	Benign
1	151408877	A	C	A151408877C	POGZ	NM_015100.4(POGZ):c.1927-49T>G	noncoding	Benign
1	151408878	A	C	A151408878C	POGZ	NM_015100.4(POGZ):c.1927-50T>G	noncoding	Benign
1	151411577	A	T	A151411577T	POGZ	NM_015100.4(POGZ):c.1926+48T>A	noncoding	Benign
1	151412092	T	C	T151412092C	POGZ	NM_015100.4(POGZ):c.1779+204A>G	noncoding	Benign
1	151412235	A	G	A151412235G	POGZ	NM_015100.4(POGZ):c.1779+61T>C	noncoding	Benign
1	151412257	G	A	G151412257A	POGZ	NM_015100.4(POGZ):c.1779+39C>T	noncoding	Benign
1	151412399	G	C	G151412399C	POGZ	NM_015100.4(POGZ):c.1679-3C>G	noncoding	Pathogenic
1	151412581	G	A	G151412581A	POGZ	NM_015100.4(POGZ):c.1679-185C>T	noncoding	Benign
1	151423306	T	C	T151423306C	POGZ	NM_015100.4(POGZ):c.1678+91A>G	noncoding	Benign
1	151423381	G	A	G151423381A	POGZ	NM_015100.4(POGZ):c.1678+16C>T	noncoding	Benign
1	151423452	A	G	A151423452G	POGZ	NM_015100.4(POGZ):c.1623T>C:p.Thr541=	coding	Benign/Likely_benign
1	151423527	G	A	G151423527A	POGZ	NM_015100.4(POGZ):c.1548C>T:p.His516=	coding	Benign/Likely_benign
1	151423561	A	C	A151423561C	POGZ	NM_015100.4(POGZ):c.1524-10T>G	noncoding	Benign
1	151423561	A	T	A151423561T	POGZ	NM_015100.4(POGZ):c.1524-10T>A	noncoding	Benign
1	151424290	T	C	T151424290C	POGZ	NM_015100.4(POGZ):c.1186-4A>G	noncoding	Benign/Likely_benign
1	151425036	G	A	G151425036A	POGZ	NM_015100.4(POGZ):c.1104C>T:p.Asp368=	coding	Benign/Likely_benign
1	151427795	C	T	C151427795T	POGZ	NM_015100.4(POGZ):c.1078+28G>A	noncoding	Benign
1	151427887	C	T	C151427887T	POGZ	NM_015100.4(POGZ):c.1014G>A:p.Val338_Val339=	coding	Benign
1	151428249	G	A	G151428249A	POGZ	NM_015100.4(POGZ):c.733C>T:p.Gln245Ter	coding	Pathogenic
1	151428295	G	A	G151428295A	POGZ	NM_015100.4(POGZ):c.687C>T:p.Thr229=	coding	Benign
1	151428466	A	C	A151428466C	POGZ	NM_015100.4(POGZ):c.569-53T>G	noncoding	Benign
1	151428569	G	A	G151428569A	POGZ	NM_015100.4(POGZ):c.569-156C>T	noncoding	Benign
1	151429569	A	G	A151429569G	POGZ	NM_015100.4(POGZ):c.568+34T>C	noncoding	Benign
1	151429713	T	G	T151429713G	POGZ	NM_015100.4(POGZ):c.460-2A>C	noncoding	Pathogenic
1	151430014	C	T	C151430014T	POGZ	NM_015100.4(POGZ):c.460-303G>A	noncoding	Benign
1	151430655	G	A	G151430655A	POGZ	NM_015100.4(POGZ):c.459+11C>T	noncoding	Benign
1	151440704	A	G	A151440704G	POGZ	NM_015100.4(POGZ):c.283+224T>C	noncoding	Benign
1	151441049	G	A	G151441049A	POGZ	NM_015100.4(POGZ):c.162C>T:p.Pro54_Ile55=	coding	Benign
1	151441097	G	T	G151441097T	POGZ	NM_015100.4(POGZ):c.125-11C>A	noncoding	Benign
1	151441137	A	G	A151441137G	POGZ	NM_015100.4(POGZ):c.125-51T>C	noncoding	Benign
1	151441314	C	T	C151441314T	POGZ	NM_015100.4(POGZ):c.125-228G>A	noncoding	Benign
1	151441933	G	C	G151441933C	POGZ	NM_015100.4(POGZ):c.124+148C>G	noncoding	Benign
1	151442135	C	T	C151442135T	POGZ	NM_015100.4(POGZ):c.70G>A:p.Val24Ile	coding	Benign/Likely_benign
1	151442208	A	G	A151442208G	POGZ	NM_015100.4(POGZ):c.-1-3T>C	noncoding	Benign
1	151442269	T	C	T151442269C	POGZ	NM_015100.4(POGZ):c.-1-64A>G	noncoding	Benign
1	151459156	T	C	T151459156C	POGZ	NM_015100.4(POGZ):c.-6A>G	noncoding	Benign
1	151658343	C	T	C151658343T	SNX27	NM_001330723.2(SNX27):c.652C>T:p.Arg218Ter	coding	Pathogenic
1	151660880	T	A	T151660880A	SNX27	NM_001330723.2(SNX27):c.801+18T>A	noncoding	Benign
1	151668452	G	C	G151668452C	SNX27	NM_001330723.2(SNX27):c.986-20G>C	noncoding	Benign
1	151692601	G	A	G151692601A	SNX27	NM_001330723.2(SNX27):c.1389+17G>A	noncoding	Benign
1	151692947	C	T	C151692947T	SNX27	NM_001330723.2(SNX27):c.1426C>T:p.Arg476Ter	coding	Pathogenic
1	151692952	G	A	G151692952A	SNX27	NM_001330723.2(SNX27):c.1431G>A:p.Trp477Ter	coding	Pathogenic
1	151693601	G	A	G151693601A	SNX27	NM_001330723.2(SNX27):c.1578+118G>A	coding	Benign
1	151776480	T	A	T151776480A	TDRKH	NM_001083965.2(TDRKH):c.1003A>T:p.Lys335Ter	coding	Pathogenic
1	151807499	G	A	G151807499A	RORC	NM_005060.4(RORC):c.1530C>T:p.Thr510=	coding	Benign
1	151813324	A	G	A151813324G	RORC	NM_005060.4(RORC):c.1089T>C:p.Val363=	coding	Benign
1	151813594	A	G	A151813594G	RORC	NM_005060.4(RORC):c.960T>C:p.Cys320=	coding	Benign
1	151814704	G	A	G151814704A	RORC	NM_005060.4(RORC):c.812-9C>T	noncoding	Benign
1	151817171	T	G	T151817171G	RORC	NM_005060.4(RORC):c.156+24A>C	noncoding	Benign
1	151829410	C	G	C151829410G	RORC	NM_005060.4(RORC):c.70+19G>C	noncoding	Benign
1	151829475	G	A	G151829475A	RORC	NM_005060.4(RORC):c.41-17C>T	noncoding	Benign
1	152219233	C	G	C152219233G	HRNR	NM_001009931.3(HRNR):c.2396G>C:p.Ser799Thr	coding	Benign
1	152219403	G	A	G152219403A	HRNR	NM_001009931.3(HRNR):c.2226C>T:p.His742=	coding	Benign
1	152302521	G	A	G152302521A	FLG	NM_002016.2(FLG):c.*179C>T	noncoding	Benign
1	152302977	G	A	G152302977A	FLG	NM_002016.2(FLG):c.11909C>T:p.Ser3970Leu	coding	Benign
1	152303083	A	G	A152303083G	FLG	NM_002016.2(FLG):c.11803T>C:p.Ser3935Pro	coding	Benign
1	152303400	C	T	C152303400T	FLG	NM_002016.2(FLG):c.11486G>A:p.Arg3829His	coding	Benign
1	152303401	G	A	G152303401A	FLG	NM_002016.2(FLG):c.11485C>T:p.Arg3829Cys	coding	Benign
1	152303659	G	A	G152303659A	FLG	NM_002016.2(FLG):c.11227C>T:p.Arg3743Ter	coding	Pathogenic
1	152303901	C	G	C152303901G	FLG	NM_002016.2(FLG):c.10985G>C:p.Ser3662Thr	coding	Benign
1	152303983	C	T	C152303983T	FLG	NM_002016.2(FLG):c.10903G>A:p.Asp3635Asn	coding	Benign
1	152304107	C	G	C152304107G	FLG	NM_002016.2(FLG):c.10779G>C:p.Glu3593Asp	coding	Benign
1	152304122	G	A	G152304122A	FLG	NM_002016.2(FLG):c.10764C>T:p.His3588=	coding	Benign
1	152304150	G	C	G152304150C	FLG	NM_002016.2(FLG):c.10736C>G:p.Thr3579Arg	coding	Benign
1	152304151	T	C	T152304151C	FLG	NM_002016.2(FLG):c.10735A>G:p.Thr3579Ala	coding	Benign
1	152304152	G	A	G152304152A	FLG	NM_002016.2(FLG):c.10734C>T:p.Pro3578=	coding	Benign
1	152304183	T	C	T152304183C	FLG	NM_002016.2(FLG):c.10703A>G:p.Gln3568Arg	coding	Benign
1	152304195	C	A	C152304195A	FLG	NM_002016.2(FLG):c.10691G>T:p.Arg3564Leu	coding	Benign
1	152304195	C	T	C152304195T	FLG	NM_002016.2(FLG):c.10691G>A:p.Arg3564His	coding	Benign
1	152304214	A	G	A152304214G	FLG	NM_002016.2(FLG):c.10672T>C:p.Ser3558Pro	coding	Benign
1	152304223	A	G	A152304223G	FLG	NM_002016.2(FLG):c.10663T>C:p.Trp3555Arg	coding	Benign
1	152304296	C	A	C152304296A	FLG	NM_002016.2(FLG):c.10590G>T:p.Arg3530Ser	coding	Benign
1	152304395	A	G	A152304395G	FLG	NM_002016.2(FLG):c.10491T>C:p.Asp3497=	coding	Benign
1	152304413	A	G	A152304413G	FLG	NM_002016.2(FLG):c.10473T>C:p.Asn3491=	coding	Benign
1	152304608	C	T	C152304608T	FLG	NM_002016.2(FLG):c.10278G>A:p.Ala3426=	coding	Benign
1	152304624	C	T	C152304624T	FLG	NM_002016.2(FLG):c.10262G>A:p.Ser3421Asn	coding	Benign/Likely_benign
1	152304831	G	C	G152304831C	FLG	NM_002016.2(FLG):c.10055C>G:p.Thr3352Arg	coding	Benign
1	152304920	T	C	T152304920C	FLG	NM_002016.2(FLG):c.9966A>G:p.Gln3322=	coding	Benign
1	152305241	C	A	C152305241A	FLG	NM_002016.2(FLG):c.9645G>T:p.Val3215=	coding	Benign
1	152305346	T	C	T152305346C	FLG	NM_002016.2(FLG):c.9540A>G:p.Ser3180=	coding	Benign
1	152305347	G	T	G152305347T	FLG	NM_002016.2(FLG):c.9539C>A:p.Ser3180Ter	coding	Pathogenic
1	152305350	A	C	A152305350C	FLG	NM_002016.2(FLG):c.9536T>G:p.Val3179Gly	coding	Benign
1	152305571	G	A	G152305571A	FLG	NM_002016.2(FLG):c.9315C>T:p.Tyr3105=	coding	Benign
1	152305573	A	C	A152305573C	FLG	NM_002016.2(FLG):c.9313T>G:p.Tyr3105Asp	coding	Benign
1	152305624	C	T	C152305624T	FLG	NM_002016.2(FLG):c.9262G>A:p.Gly3088Arg	coding	Benign
1	152305761	T	C	T152305761C	FLG	NM_002016.2(FLG):c.9125A>G:p.Gln3042Arg	coding	Benign
1	152305769	G	C	G152305769C	FLG	NM_002016.2(FLG):c.9117C>G:p.Ser3039=	coding	Benign
1	152305771	A	G	A152305771G	FLG	NM_002016.2(FLG):c.9115T>C:p.Ser3039Pro	coding	Benign
1	152305825	C	A	C152305825A	FLG	NM_002016.2(FLG):c.9061G>T:p.Gly3021Ter	coding	Pathogenic
1	152305861	G	A	G152305861A	FLG	NM_002016.2(FLG):c.9025C>T:p.Arg3009Ter	coding	Pathogenic
1	152305958	T	G	T152305958G	FLG	NM_002016.2(FLG):c.8928A>C:p.Glu2976Asp	coding	Benign
1	152306008	C	T	C152306008T	FLG	NM_002016.2(FLG):c.8878G>A:p.Gly2960Ser	coding	Benign
1	152306079	T	C	T152306079C	FLG	NM_002016.2(FLG):c.8807A>G:p.Asp2936Gly	coding	Benign
1	152306118	A	C	A152306118C	FLG	NM_002016.2(FLG):c.8768T>G:p.Leu2923Arg	coding	Benign
1	152306136	C	A	C152306136A	FLG	NM_002016.2(FLG):c.8750G>T:p.Gly2917Val	coding	Benign
1	152306165	C	T	C152306165T	FLG	NM_002016.2(FLG):c.8721G>A:p.Trp2907Ter	coding	Pathogenic
1	152306213	C	A	C152306213A	FLG	NM_002016.2(FLG):c.8673G>T:p.Val2891=	coding	Benign
1	152306226	T	G	T152306226G	FLG	NM_002016.2(FLG):c.8660A>C:p.Gln2887Pro	coding	Benign/Likely_benign
1	152306338	C	T	C152306338T	FLG	NM_002016.2(FLG):c.8548G>A:p.Gly2850Ser	coding	Benign
1	152306380	T	G	T152306380G	FLG	NM_002016.2(FLG):c.8506A>C:p.Ser2836Arg	coding	Benign
1	152306543	G	A	G152306543A	FLG	NM_002016.2(FLG):c.8343C>T:p.Asp2781=	coding	Benign
1	152306699	C	T	C152306699T	FLG	NM_002016.2(FLG):c.8187G>A:p.Gly2729=	coding	Benign/Likely_benign
1	152306720	C	T	C152306720T	FLG	NM_002016.2(FLG):c.8166G>A:p.Glu2722=	coding	Benign/Likely_benign
1	152306894	G	C	G152306894C	FLG	NM_002016.2(FLG):c.7992C>G:p.Ser2664Arg	coding	Benign
1	152306930	T	G	T152306930G	FLG	NM_002016.2(FLG):c.7956A>C:p.Glu2652Asp	coding	Benign
1	152307225	G	C	G152307225C	FLG	NM_002016.2(FLG):c.7661C>G:p.Ser2554Ter	coding	Pathogenic
1	152307253	C	T	C152307253T	FLG	NM_002016.2(FLG):c.7633G>A:p.Gly2545Arg	coding	Benign
1	152307365	G	C	G152307365C	FLG	NM_002016.2(FLG):c.7521C>G:p.His2507Gln	coding	Benign
1	152307444	A	G	A152307444G	FLG	NM_002016.2(FLG):c.7442T>C:p.Leu2481Ser	coding	Benign
1	152307488	C	T	C152307488T	FLG	NM_002016.2(FLG):c.7398G>A:p.Pro2466=	coding	Benign
1	152307556	T	C	T152307556C	FLG	NM_002016.2(FLG):c.7330A>G:p.Lys2444Glu	coding	Benign
1	152307694	C	G	C152307694G	FLG	NM_002016.2(FLG):c.7192G>C:p.Glu2398Gln	coding	Benign
1	152307789	C	G	C152307789G	FLG	NM_002016.2(FLG):c.7097G>C:p.Ser2366Thr	coding	Benign
1	152307896	G	A	G152307896A	FLG	NM_002016.2(FLG):c.6990C>T:p.His2330=	coding	Benign
1	152307995	C	G	C152307995G	FLG	NM_002016.2(FLG):c.6891G>C:p.Glu2297Asp	coding	Benign
1	152308099	C	T	C152308099T	FLG	NM_002016.2(FLG):c.6787G>A:p.Ala2263Thr	coding	Benign
1	152308170	C	T	C152308170T	FLG	NM_002016.2(FLG):c.6716G>A:p.Arg2239Gln	coding	Benign
1	152308189	G	A	G152308189A	FLG	NM_002016.2(FLG):c.6697C>T:p.Pro2233Ser	coding	Benign
1	152308211	C	T	C152308211T	FLG	NM_002016.2(FLG):c.6675G>A:p.Val2225=	coding	Benign
1	152308212	A	G	A152308212G	FLG	NM_002016.2(FLG):c.6674T>C:p.Val2225Ala	coding	Benign
1	152308215	A	T	A152308215T	FLG	NM_002016.2(FLG):c.6671T>A:p.Leu2224Gln	coding	Benign
1	152308260	T	C	T152308260C	FLG	NM_002016.2(FLG):c.6626A>G:p.His2209Arg	coding	Benign
1	152308282	C	T	C152308282T	FLG	NM_002016.2(FLG):c.6604G>A:p.Gly2202Ser	coding	Benign/Likely_benign
1	152308283	A	G	A152308283G	FLG	NM_002016.2(FLG):c.6603T>C:p.Asp2201=	coding	Benign
1	152308306	A	G	A152308306G	FLG	NM_002016.2(FLG):c.6580T>C:p.Tyr2194His	coding	Benign
1	152308312	T	G	T152308312G	FLG	NM_002016.2(FLG):c.6574A>C:p.Lys2192Gln	coding	Benign
1	152308388	A	G	A152308388G	FLG	NM_002016.2(FLG):c.6498T>C:p.Ser2166=	coding	Benign
1	152308424	T	G	T152308424G	FLG	NM_002016.2(FLG):c.6462A>C:p.Gln2154His	coding	Benign
1	152308431	G	T	G152308431T	FLG	NM_002016.2(FLG):c.6455C>A:p.Ser2152Tyr	coding	Benign
1	152308456	G	A	G152308456A	FLG	NM_002016.2(FLG):c.6430C>T:p.Pro2144Ser	coding	Benign/Likely_benign
1	152308531	A	G	A152308531G	FLG	NM_002016.2(FLG):c.6355T>C:p.Tyr2119His	coding	Benign
1	152308532	A	G	A152308532G	FLG	NM_002016.2(FLG):c.6354T>C:p.His2118=	coding	Benign
1	152308563	G	A	G152308563A	FLG	NM_002016.2(FLG):c.6323C>T:p.Ala2108Val	coding	Benign
1	152308660	C	T	C152308660T	FLG	NM_002016.2(FLG):c.6226G>A:p.Ala2076Thr	coding	Benign
1	152308668	T	C	T152308668C	FLG	NM_002016.2(FLG):c.6218A>G:p.Lys2073Arg	coding	Benign
1	152308696	T	G	T152308696G	FLG	NM_002016.2(FLG):c.6190A>C:p.Lys2064Gln	coding	Benign
1	152308752	C	G	C152308752G	FLG	NM_002016.2(FLG):c.6134G>C:p.Ser2045Thr	coding	Benign
1	152308814	A	G	A152308814G	FLG	NM_002016.2(FLG):c.6072T>C:p.His2024=	coding	Benign
1	152308828	A	C	A152308828C	FLG	NM_002016.2(FLG):c.6058T>G:p.Ser2020Ala	coding	Benign
1	152308841	G	T	G152308841T	FLG	NM_002016.2(FLG):c.6045C>A:p.Asp2015Glu	coding	Benign
1	152308990	C	T	C152308990T	FLG	NM_002016.2(FLG):c.5896G>A:p.Gly1966Ser	coding	Benign
1	152309003	G	T	G152309003T	FLG	NM_002016.2(FLG):c.5883C>A:p.His1961Gln	coding	Benign
1	152309046	C	T	C152309046T	FLG	NM_002016.2(FLG):c.5840G>A:p.Trp1947Ter	coding	Pathogenic
1	152309047	A	C	A152309047C	FLG	NM_002016.2(FLG):c.5839T>G:p.Trp1947Gly	coding	Benign
1	152309058	A	T	A152309058T	FLG	NM_002016.2(FLG):c.5828T>A:p.Leu1943His	coding	Benign/Likely_benign
1	152309183	G	A	G152309183A	FLG	NM_002016.2(FLG):c.5703C>T:p.Gly1901=	coding	Benign
1	152309214	C	T	C152309214T	FLG	NM_002016.2(FLG):c.5672G>A:p.Arg1891Gln	coding	Benign
1	152309269	G	T	G152309269T	FLG	NM_002016.2(FLG):c.5617C>A:p.Gln1873Lys	coding	Benign
1	152309438	G	C	G152309438C	FLG	NM_002016.2(FLG):c.5448C>G:p.His1816Gln	coding	Benign
1	152309472	G	A	G152309472A	FLG	NM_002016.2(FLG):c.5414C>T:p.Ala1805Val	coding	Benign
1	152309503	C	A	C152309503A	FLG	NM_002016.2(FLG):c.5383G>T:p.Glu1795Ter	coding	Pathogenic
1	152309518	G	A	G152309518A	FLG	NM_002016.2(FLG):c.5368C>T:p.Gln1790Ter	coding	Pathogenic
1	152309531	G	C	G152309531C	FLG	NM_002016.2(FLG):c.5355C>G:p.Ser1785Arg	coding	Benign/Likely_benign
1	152309688	G	C	G152309688C	FLG	NM_002016.2(FLG):c.5198C>G:p.Ser1733Ter	coding	Pathogenic
1	152309752	G	A	G152309752A	FLG	NM_002016.2(FLG):c.5134C>T:p.Arg1712Ter	coding	Pathogenic
1	152310009	G	C	G152310009C	FLG	NM_002016.2(FLG):c.4877C>G:p.Ser1626Ter	coding	Pathogenic
1	152310318	G	A	G152310318A	FLG	NM_002016.2(FLG):c.4568C>T:p.Thr1523Ile	coding	Benign
1	152310342	G	T	G152310342T	FLG	NM_002016.2(FLG):c.4544C>A:p.Ser1515Ter	coding	Pathogenic
1	152310353	C	G	C152310353G	FLG	NM_002016.2(FLG):c.4533G>C:p.Arg1511Ser	coding	Benign
1	152310423	G	T	G152310423T	FLG	NM_002016.2(FLG):c.4463C>A:p.Thr1488Asn	coding	Benign
1	152310434	G	C	G152310434C	FLG	NM_002016.2(FLG):c.4452C>G:p.Asp1484Glu	coding	Benign
1	152310441	G	T	G152310441T	FLG	NM_002016.2(FLG):c.4445C>A:p.Ser1482Tyr	coding	Benign
1	152310476	A	G	A152310476G	FLG	NM_002016.2(FLG):c.4410T>C:p.His1470=	coding	Benign
1	152310646	C	T	C152310646T	FLG	NM_002016.2(FLG):c.4240G>A:p.Gly1414Arg	coding	Benign/Likely_benign
1	152310664	G	T	G152310664T	FLG	NM_002016.2(FLG):c.4222C>A:p.Gln1408Lys	coding	Benign
1	152310760	T	C	T152310760C	FLG	NM_002016.2(FLG):c.4126A>G:p.Arg1376Gly	coding	Benign
1	152310807	C	T	C152310807T	FLG	NM_002016.2(FLG):c.4079G>A:p.Arg1360His	coding	Benign
1	152311335	G	A	G152311335A	FLG	NM_002016.2(FLG):c.3551C>T:p.Ser1184Leu	coding	Benign
1	152311386	G	C	G152311386C	FLG	NM_002016.2(FLG):c.3500C>G:p.Ala1167Gly	coding	Benign
1	152311467	C	T	C152311467T	FLG	NM_002016.2(FLG):c.3419G>A:p.Arg1140Gln	coding	Benign
1	152311499	A	G	A152311499G	FLG	NM_002016.2(FLG):c.3387T>C:p.Ser1129=	coding	Benign
1	152311548	C	T	C152311548T	FLG	NM_002016.2(FLG):c.3338G>A:p.Arg1113His	coding	Benign/Likely_benign
1	152312029	C	G	C152312029G	FLG	NM_002016.2(FLG):c.2857G>C:p.Glu953Gln	coding	Benign
1	152312107	G	A	G152312107A	FLG	NM_002016.2(FLG):c.2779C>T:p.Gln927Ter	coding	Pathogenic
1	152312197	G	A	G152312197A	FLG	NM_002016.2(FLG):c.2689C>T:p.Arg897Cys	coding	Benign
1	152312347	A	T	A152312347T	FLG	NM_002016.2(FLG):c.2539T>A:p.Ser847Thr	coding	Benign
1	152312378	A	G	A152312378G	FLG	NM_002016.2(FLG):c.2508T>C:p.Asp836=	coding	Benign
1	152312606	C	G	C152312606G	FLG	NM_002016.2(FLG):c.2280G>C:p.Gln760His	coding	Benign
1	152312813	T	C	T152312813C	FLG	NM_002016.2(FLG):c.2073A>G:p.Gly691=	coding	Benign
1	152312814	C	T	C152312814T	FLG	NM_002016.2(FLG):c.2072G>A:p.Gly691Glu	coding	Benign
1	152312819	A	G	A152312819G	FLG	NM_002016.2(FLG):c.2067T>C:p.Ser689=	coding	Benign/Likely_benign
1	152313172	G	A	G152313172A	FLG	NM_002016.2(FLG):c.1714C>T:p.Arg572Ter	coding	Pathogenic
1	152313201	G	T	G152313201T	FLG	NM_002016.2(FLG):c.1685C>A:p.Ser562Ter	coding	Pathogenic
1	152313331	G	T	G152313331T	FLG	NM_002016.2(FLG):c.1555C>A:p.His519Asn	coding	Benign
1	152313401	C	T	C152313401T	FLG	NM_002016.2(FLG):c.1485G>A:p.Ser495=	coding	Benign
1	152313508	C	A	C152313508A	FLG	NM_002016.2(FLG):c.1378G>T:p.Glu460Ter	coding	Pathogenic
1	152313556	C	T	C152313556T	FLG	NM_002016.2(FLG):c.1330G>A:p.Gly444Arg	coding	Benign
1	152313564	C	T	C152313564T	FLG	NM_002016.2(FLG):c.1322G>A:p.Gly441Glu	coding	Benign
1	152313631	C	T	C152313631T	FLG	NM_002016.2(FLG):c.1255G>A:p.Gly419Ser	coding	Benign
1	152313650	A	G	A152313650G	FLG	NM_002016.2(FLG):c.1236T>C:p.Arg412=	coding	Benign
1	152313912	G	A	G152313912A	FLG	NM_002016.2(FLG):c.974C>T:p.Ala325Val	coding	Benign
1	152314602	G	A	G152314602A	FLG	NM_002016.2(FLG):c.284C>T:p.Pro95Leu	coding	Benign
1	152314737	T	C	T152314737C	FLG	NM_002016.2(FLG):c.149A>G:p.Asp50Gly	coding	Benign
1	152314831	C	G	C152314831G	FLG	NM_002016.2(FLG):c.139-84G>C	coding	Benign
1	152315117	T	A	T152315117A	FLG	NM_002016.2(FLG):c.138+202A>T	noncoding	Benign
1	152315318	C	G	C152315318G	FLG	NM_002016.2(FLG):c.138+1G>C	noncoding	Pathogenic
1	152350656	G	T	G152350656T	FLG2	NM_001014342.3(FLG2):c.7130C>A:p.Ser2377Ter	coding	Benign
1	152351623	C	T	C152351623T	FLG2	NM_001014342.3(FLG2):c.6163G>A:p.Gly2055Arg	coding	Benign
1	152351921	G	A	G152351921A	FLG2	NM_001014342.3(FLG2):c.5865C>T:p.His1955=	coding	Benign
1	152352980	G	A	G152352980A	FLG2	NM_001014342.3(FLG2):c.4806C>T:p.Ala1602=	coding	Benign
1	152353256	G	A	G152353256A	FLG2	NM_001014342.3(FLG2):c.4530C>T:p.His1510=	coding	Benign
1	152354040	T	C	T152354040C	FLG2	NM_001014342.3(FLG2):c.3746A>G:p.His1249Arg	coding	Benign
1	152354367	C	T	C152354367T	FLG2	NM_001014342.3(FLG2):c.3419G>A:p.Gly1140Asp	coding	Benign
1	152354993	C	T	C152354993T	FLG2	NM_001014342.3(FLG2):c.2793G>A:p.Gln931=	coding	Benign
1	152355026	A	G	A152355026G	FLG2	NM_001014342.3(FLG2):c.2760T>C:p.Ser920=	coding	Benign
1	152355935	A	G	A152355935G	FLG2	NM_001014342.3(FLG2):c.1851T>C:p.Ser617=	coding	Benign
1	152356893	C	G	C152356893G	FLG2	NM_001014342.3(FLG2):c.893G>C:p.Cys298Ser	coding	Benign
1	152356959	C	T	C152356959T	FLG2	NM_001014342.3(FLG2):c.827G>A:p.Arg276Gln	coding	Benign
1	152357282	T	A	T152357282A	FLG2	NM_001014342.3(FLG2):c.504A>T:p.Leu168Phe	coding	Benign
1	152358520	G	A	G152358520A	FLG2	NM_001014342.3(FLG2):c.138+227C>T	noncoding	Benign
1	152358764	G	A	G152358764A	FLG2	NM_001014342.3(FLG2):c.121C>T:p.Leu41Phe	coding	Benign
1	152359057	T	G	T152359057G	FLG2	NM_001014342.3(FLG2):c.-22-151A>C	noncoding	Benign
1	152359118	T	C	T152359118C	FLG2	NM_001014342.3(FLG2):c.-22-212A>G	noncoding	Benign
1	153261034	A	G	A153261034G	LORICRIN	NM_000427.3(LORICRIN):c.85A>G:p.Ser29Gly	coding	Benign
1	153261102	C	T	C153261102T	LORICRIN	NM_000427.3(LORICRIN):c.153C>T:p.Cys51=	coding	Benign
1	153261819	G	A	G153261819A	LORICRIN	NM_000427.3(LORICRIN):c.870G>A:p.Gly290=	coding	Benign
1	153262126	T	C	T153262126C	LORICRIN	Single_allele	noncoding	Benign
1	153811553	G	C	G153811553C	GATAD2B	NM_020699.4(GATAD2B):c.1648+178C>G	noncoding	Benign
1	153812008	A	G	A153812008G	GATAD2B	NM_020699.4(GATAD2B):c.1530+14T>C	noncoding	Benign
1	153812385	G	C	G153812385C	GATAD2B	NM_020699.4(GATAD2B):c.1420-253C>G	noncoding	Benign
1	153813348	A	G	A153813348G	GATAD2B	NM_020699.4(GATAD2B):c.1321T>C:p.Cys441Arg	coding	Pathogenic
1	153813706	G	A	G153813706A	GATAD2B	NM_020699.4(GATAD2B):c.1217-254C>T	noncoding	Benign
1	153816469	G	A	G153816469A	GATAD2B	NM_020699.4(GATAD2B):c.1020C>T:p.Ser340=	coding	Benign/Likely_benign
1	153816623	T	C	T153816623C	GATAD2B	NM_020699.4(GATAD2B):c.901-35A>G	noncoding	Benign
1	153817346	C	T	C153817346T	GATAD2B	NM_020699.4(GATAD2B):c.900+26G>A	noncoding	Benign
1	153817452	G	A	G153817452A	GATAD2B	NM_020699.4(GATAD2B):c.820C>T:p.Gln274Ter	coding	Pathogenic
1	153818025	C	T	C153818025T	GATAD2B	NM_020699.4(GATAD2B):c.729+15G>A	noncoding	Benign
1	153818027	A	G	A153818027G	GATAD2B	NM_020699.4(GATAD2B):c.729+13T>C	noncoding	Benign
1	153818030	G	C	G153818030C	GATAD2B	NM_020699.4(GATAD2B):c.729+10C>G	noncoding	Benign/Likely_benign
1	153818901	G	A	G153818901A	GATAD2B	NM_020699.4(GATAD2B):c.487C>T:p.Gln163Ter	coding	Pathogenic
1	153819656	T	C	T153819656C	GATAD2B	NM_020699.4(GATAD2B):c.415A>G:p.Ser139Gly	coding	Benign/Likely_benign
1	153819821	G	A	G153819821A	GATAD2B	NM_020699.4(GATAD2B):c.336-86C>T	noncoding	Benign
1	153827982	T	C	T153827982C	GATAD2B	NM_020699.4(GATAD2B):c.335+31A>G	noncoding	Benign
1	153827983	A	G	A153827983G	GATAD2B	NM_020699.4(GATAD2B):c.335+30T>C	noncoding	Benign
1	153828108	G	A	G153828108A	GATAD2B	NM_020699.4(GATAD2B):c.240C>T:p.Asn80=	coding	Benign/Likely_benign
1	153828622	C	T	C153828622T	GATAD2B	NM_020699.4(GATAD2B):c.-1-274G>A	noncoding	Benign
1	153991332	C	T	C153991332T	RPS27	NM_001030.6(RPS27):c.115+109C>T	noncoding	Benign
1	153992066	A	T	A153992066T	RPS27	NM_001030.6(RPS27):c.228A>T:p.Gly76=	coding	Benign
1	154167548	C	T	C154167548T	TPM3	NM_152263.4(TPM3):c.*389G>A	coding	Benign/Likely_benign
1	154172205	A	T	A154172205T	TPM3	NM_152263.4(TPM3):c.566+703T>A	noncoding	Benign
1	154173124	G	A	G154173124A	TPM3	NM_152263.4(TPM3):c.455C>T:p.Ala152Val	coding	Pathogenic/Likely_pathogenic
1	154183588	C	G	C154183588G	TPM3	NM_152263.4(TPM3):c.244-7340G>C	noncoding	Benign
1	154191323	C	T	C154191323T	TPM3	NM_152263.4(TPM3):c.118-12G>A	noncoding	Pathogenic
1	154191606	C	T	C154191606T	TPM3	NM_152263.4(TPM3):c.118-295G>A	noncoding	Benign
1	154191663	A	C	A154191663C	TPM3	NM_152263.4(TPM3):c.117+239T>G	coding	Benign
1	154272787	G	A	G154272787A	HAX1	NM_006118.4(HAX1):c.53+11G>A	noncoding	Benign/Likely_benign
1	154272789	C	T	C154272789T	HAX1	NM_006118.4(HAX1):c.53+13C>T	noncoding	Benign/Likely_benign
1	154273806	G	T	G154273806T	HAX1	NM_006118.4(HAX1):c.349G>T:p.Glu117Ter	coding	Pathogenic
1	154273937	G	A	G154273937A	HAX1	NM_006118.4(HAX1):c.480G>A:p.Trp160Ter	coding	Pathogenic
1	154273944	C	T	C154273944T	HAX1	NM_006118.4(HAX1):c.487C>T:p.Gln163Ter	coding	Pathogenic
1	154273987	T	A	T154273987A	HAX1	NM_006118.4(HAX1):c.504+26T>A	noncoding	Benign
1	154274934	A	G	A154274934G	HAX1	NM_006118.4(HAX1):c.505-16A>G	noncoding	Benign
1	154405680	A	G	A154405680G	IL6R	NM_000565.4(IL6R):c.51A>G:p.Gly17=	coding	Benign
1	154429203	G	A	G154429203A	IL6R	NM_000565.4(IL6R):c.93G>A:p.Ala31=	coding	Benign
1	154429320	C	T	C154429320T	IL6R	NM_000565.4(IL6R):c.210C>T:p.His70=	coding	Benign
1	154430556	T	A	T154430556A	IL6R	NM_000565.4(IL6R):c.408T>A:p.Pro136=	coding	Benign
1	154435956	C	A	C154435956A	IL6R	NM_000565.4(IL6R):c.808-13C>A	noncoding	Benign
1	154448117	G	A	G154448117A	IL6R	NM_000565.4(IL6R):c.950-8G>A	noncoding	Benign
1	154449591	T	C	T154449591C	IL6R	NM_000565.4(IL6R):c.997-320T>C	noncoding	Benign
1	154449931	C	T	C154449931T	IL6R	NM_000565.4(IL6R):c.1017C>T:p.Asp339=	coding	Benign
1	154454471	T	A	T154454471A	IL6R	NM_000565.4(IL6R):c.1067-17T>A	noncoding	Benign
1	154454494	A	C	A154454494C	IL6R	NM_000565.4(IL6R):c.1073A>C:p.Asp358Ala	coding	Benign
1	154454574	G	A	G154454574A	IL6R	NM_000565.4(IL6R):c.1153G>A:p.Val385Ile	coding	Benign
1	154567539	C	G	C154567539G	CHRNB2	Single_allele	noncoding	Benign
1	154567591	C	A	C154567591A	CHRNB2	Single_allele	noncoding	Benign
1	154567749	G	A	G154567749A	CHRNB2	NM_000748.2(CHRNB2):c.-296G>A	noncoding	Benign/Likely_benign
1	154567992	C	T	C154567992T	CHRNB2	NM_000748.3(CHRNB2):c.-53C>T	noncoding	Benign
1	154568006	C	G	C154568006G	CHRNB2	NM_000748.3(CHRNB2):c.-39C>G	noncoding	Benign
1	154569779	T	C	T154569779C	CHRNB2	NM_000748.3(CHRNB2):c.211-13T>C	noncoding	Benign
1	154571744	T	G	T154571744G	CHRNB2	NM_000748.3(CHRNB2):c.921T>G:p.Leu307=	coding	Benign
1	154571746	T	C	T154571746C	CHRNB2	NM_000748.3(CHRNB2):c.923T>C:p.Val308Ala	coding	Pathogenic/Likely_pathogenic
1	154575739	C	A	C154575739A	CHRNB2	NM_000748.3(CHRNB2):c.1339-23C>A	noncoding	Benign
1	154575801	C	G	C154575801G	CHRNB2	NM_000748.3(CHRNB2):c.1378C>G:p.Arg460Gly	coding	Benign/Likely_benign
1	154576045	C	G	C154576045G	CHRNB2	NM_000748.3(CHRNB2):c.*113C>G	noncoding	Benign
1	154585024	G	A	G154585024A	ADAR	NM_001111.5(ADAR):c.3463C>T:p.Arg1155Trp	coding	Pathogenic/Likely_pathogenic
1	154586180	C	T	C154586180T	ADAR	NM_001111.5(ADAR):c.3202+1G>A	noncoding	Pathogenic
1	154586560	G	C	G154586560C	ADAR	NM_001111.5(ADAR):c.3020-197C>G	noncoding	Benign
1	154588785	G	C	G154588785C	ADAR	NM_001111.5(ADAR):c.2763-112C>G	noncoding	Benign
1	154589185	C	G	C154589185G	ADAR	NM_001111.5(ADAR):c.2762+184G>C	noncoding	Benign
1	154589737	T	G	T154589737G	ADAR	NM_001111.5(ADAR):c.2668+20A>C	noncoding	Benign
1	154590149	G	C	G154590149C	ADAR	NM_001111.5(ADAR):c.2496+35C>G	noncoding	Benign
1	154590153	C	A	C154590153A	ADAR	NM_001111.5(ADAR):c.2496+31G>T	noncoding	Benign
1	154590336	G	A	G154590336A	ADAR	NM_001111.5(ADAR):c.2344C>T:p.Gln782Ter	coding	Pathogenic
1	154596703	G	A	G154596703A	ADAR	NM_001111.5(ADAR):c.2270+102C>T	noncoding	Benign
1	154597122	C	G	C154597122G	ADAR	NM_001111.5(ADAR):c.2079+1G>C	noncoding	Pathogenic
1	154597287	G	A	G154597287A	ADAR	NM_001111.5(ADAR):c.1935-20C>T	noncoding	Benign
1	154597419	G	C	G154597419C	ADAR	NM_001111.5(ADAR):c.1935-152C>G	noncoding	Benign
1	154597875	G	C	G154597875C	ADAR	NM_001111.5(ADAR):c.1887C>G:p.Ser629=	coding	Benign
1	154598216	G	A	G154598216A	ADAR	NM_001111.5(ADAR):c.1785+186C>T	noncoding	Benign
1	154600943	C	T	C154600943T	ADAR	NM_001111.5(ADAR):c.1601+98G>A	noncoding	Benign
1	154601660	G	A	G154601660A	ADAR	NM_001111.5(ADAR):c.982C>T:p.Arg328Ter	coding	Pathogenic
1	154601879	G	A	G154601879A	ADAR	NM_001111.5(ADAR):c.763C>T:p.Gln255Ter	coding	Pathogenic
1	154602557	G	A	G154602557A	ADAR	NM_001111.5(ADAR):c.85C>T:p.Gln29Ter	coding	Pathogenic
1	154602839	A	C	A154602839C	ADAR	NM_001111.5(ADAR):c.16-213T>G	noncoding	Benign
1	154602845	G	A	G154602845A	ADAR	NM_001111.5(ADAR):c.16-219C>T	noncoding	Benign
1	154602860	A	G	A154602860G	ADAR	NM_001111.5(ADAR):c.16-234T>C	noncoding	Benign
1	154602949	T	C	T154602949C	ADAR	NM_001111.5(ADAR):c.16-323A>G	noncoding	Benign
1	154607735	A	G	A154607735G	ADAR	NM_001111.5(ADAR):c.15+257T>C	noncoding	Benign
1	154726011	C	T	C154726011T	KCNN3	NM_002249.6(KCNN3):c.1606G>A:p.Ala536Thr	coding	Pathogenic
1	154925085	A	C	A154925085C	PMVK	NM_006556.4(PMVK):c.*44T>G	noncoding	Benign
1	154926423	C	T	C154926423T	PMVK	NM_006556.4(PMVK):c.373G>A:p.Val125Met	coding	Benign
1	154932364	T	C	T154932364C	PMVK	NM_006556.4(PMVK):c.147A>G:p.Glu49=	coding	Benign
1	154932703	A	G	A154932703G	PMVK	NM_006556.4(PMVK):c.96-288T>C	noncoding	Benign
1	154936607	C	A	C154936607A	PMVK	NM_006556.4(PMVK):c.79G>T:p.Glu27Ter	coding	Pathogenic
1	154936792	A	G	A154936792G	PMVK	NM_006556.3(PMVK):c.-107T>C	noncoding	Benign
1	154984186	C	A	C154984186A	FLAD1	NM_025207.5(FLAD1):c.372+120C>A	noncoding	Benign
1	154984284	G	C	G154984284C	FLAD1	NM_025207.5(FLAD1):c.372+218G>C	noncoding	Benign
1	154988517	G	A	G154988517A	FLAD1	NM_025207.5(FLAD1):c.785G>A:p.Arg262Gln	coding	Benign
1	154988972	T	G	T154988972G	FLAD1	NM_025207.5(FLAD1):c.1117+123T>G	coding	Benign
1	154988982	A	G	A154988982G	FLAD1	NM_025207.5(FLAD1):c.1117+133A>G	coding	Benign
1	155015050	C	T	C155015050T	ZBTB7B	NM_001256455.2(ZBTB7B):c.390C>T:p.Ile130=	coding	Benign
1	155063955	G	A	G155063955A	EFNA4	NM_005227.3(EFNA4):c.113+19G>A	coding	Benign
1	155133751	A	T	A155133751T	EFNA1	NM_004428.3(EFNA1):c.476A>T:p.Asp159Val	coding	Benign
1	155139997	G	A	G155139997A	DPM3	NM_153741.2(DPM3):c.244C>T:p.Arg82Ter	coding	Pathogenic
1	155140012	G	A	G155140012A	DPM3	NM_153741.2(DPM3):c.229C>T:p.Gln77Ter	coding	Pathogenic
1	155140129	G	A	G155140129A	DPM3	NM_153741.2(DPM3):c.112C>T:p.Leu38=	coding	Benign
1	155140220	C	T	C155140220T	DPM3	NM_153741.2(DPM3):c.21G>A:p.Trp7Ter	coding	Pathogenic
1	155140628	G	T	G155140628T	DPM3	NM_153741.1(DPM3):c.-35-108C>A	noncoding	Benign
1	155192276	C	T	C155192276T	MUC1	NM_001204286.1(MUC1):c.93G>A:p.Thr31=	coding	Benign
1	155235000	G	A	G155235000A	GBA	NM_000157.4(GBA):c.1606C>T:p.Gln536Ter	coding	Pathogenic
1	155235195	C	T	C155235195T	GBA1	NM_000157.4(GBA1):c.1505G>A:p.Arg502His	coding	Pathogenic/Likely_pathogenic
1	155235680	C	T	C155235680T	GBA	NM_000157.4(GBA):c.1388+1G>A	noncoding	Pathogenic
1	155235810	C	T	C155235810T	GBA	NM_000157.4(GBA):c.1259G>A:p.Trp420Ter	coding	Pathogenic
1	155236377	C	T	C155236377T	GBA	NM_000157.4(GBA):c.1092G>A:p.Gly364=	coding	Benign/Likely_benign
1	155237524	T	G	T155237524G	GBA1	NM_000157.4(GBA1):c.816A>C:p.Glu272Asp	coding	Pathogenic
1	155237580	T	C	T155237580C	GBA	NM_000157.4(GBA):c.762-2A>G	noncoding	Pathogenic
1	155238260	G	C	G155238260C	GBA1	NM_000157.4(GBA1):c.635C>G:p.Ser212Ter	coding	Pathogenic
1	155238291	G	A	G155238291A	GBA1	NM_000157.4(GBA1):c.604C>T:p.Arg202Ter	coding	Pathogenic/Likely_pathogenic
1	155238629	C	T	C155238629T	GBA1	NM_000157.4(GBA1):c.476G>A:p.Arg159Gln	coding	Pathogenic/Likely_pathogenic
1	155239937	G	A	G155239937A	GBA	NM_000157.4(GBA):c.256C>T:p.Arg86Ter	coding	Pathogenic
1	155291846	G	A	G155291846A	PKLR	NM_000298.6(PKLR):c.1528C>T:p.Arg510Ter	coding	Pathogenic
1	155291918	G	A	G155291918A	PKLR	NM_000298.6(PKLR):c.1456C>T:p.Arg486Trp	coding	Pathogenic/Likely_pathogenic
1	155291986	C	T	C155291986T	PKLR	NM_000298.6(PKLR):c.1437-49G>A	noncoding	Benign
1	155293488	C	T	C155293488T	PKLR	NM_000298.6(PKLR):c.1219G>A:p.Glu407Lys	coding	Pathogenic
1	155293533	C	T	C155293533T	PKLR	NM_000298.6(PKLR):c.1174G>A:p.Ala392Thr	coding	Pathogenic
1	155294260	C	T	C155294260T	PKLR	NM_000298.6(PKLR):c.1091G>A:p.Gly364Asp	coding	Pathogenic
1	155294639	G	A	G155294639A	PKLR	NM_000298.6(PKLR):c.808C>T:p.Arg270Ter	coding	Pathogenic
1	155295386	A	G	A155295386G	PKLR	NM_000298.6(PKLR):c.507+51T>C	noncoding	Benign
1	155295569	C	T	C155295569T	PKLR	NM_000298.6(PKLR):c.376-1G>A	coding	Pathogenic
1	155299985	A	G	A155299985G	PKLR	NM_000298.6(PKLR):c.283+113T>C	noncoding	Benign
1	155299989	G	A	G155299989A	PKLR	NM_000298.6(PKLR):c.283+109C>T	noncoding	Benign
1	155301478	C	G	C155301478G	PKLR	NG_011677.1:g.4957G>C	noncoding	Pathogenic
1	155347856	G	A	G155347856A	ASH1L	NM_018489.3(ASH1L):c.7603C>T:p.Arg2535Ter	coding	Pathogenic
1	155347891	C	T	C155347891T	ASH1L	NM_018489.3(ASH1L):c.7568G>A:p.Arg2523His	coding	Benign
1	155352823	C	T	C155352823T	ASH1L	NM_018489.3(ASH1L):c.7249G>A:p.Ala2417Thr	coding	Benign
1	155357719	G	A	G155357719A	ASH1L	NM_018489.3(ASH1L):c.6826C>T:p.Arg2276Ter	coding	Pathogenic
1	155378375	C	T	C155378375T	ASH1L	NM_018489.3(ASH1L):c.6238G>A:p.Val2080Ile	coding	Pathogenic
1	155438809	T	C	T155438809C	ASH1L	NM_018489.3(ASH1L):c.5346A>G:p.Leu1782_Ser1783=	coding	Benign
1	155438844	T	C	T155438844C	ASH1L	NM_018489.3(ASH1L):c.5311A>G:p.Thr1771Ala	coding	Benign
1	155438845	G	T	G155438845T	ASH1L	NM_018489.3(ASH1L):c.5310C>A:p.Val1770_Thr1771=	coding	Benign
1	155481857	G	T	G155481857T	ASH1L	NM_018489.3(ASH1L):c.1013C>A:p.Ser338Ter	coding	Pathogenic
1	155482080	C	A	C155482080A	ASH1L	NM_018489.3(ASH1L):c.790G>T:p.Gly264Ter	coding	Pathogenic
1	155609989	C	T	C155609989T	MSTO1	Single_allele	noncoding	Benign
1	155610040	C	T	C155610040T	MSTO1	Single_allele	noncoding	Benign
1	155610044	A	G	A155610044G	MSTO1	Single_allele	noncoding	Benign
1	155610327	C	T	C155610327T	MSTO1	NM_018116.4(MSTO1):c.79C>T:p.Gln27Ter	coding	Pathogenic
1	155610461	C	A	C155610461A	MSTO1	NM_018116.4(MSTO1):c.121C>A:p.Pro41Thr	coding	Benign
1	155611520	T	C	T155611520C	MSTO1	NM_018116.4(MSTO1):c.367-29T>C	coding	Benign
1	155611966	A	G	A155611966G	MSTO1	NM_018116.4(MSTO1):c.561-17A>G	noncoding	Benign
1	155612176	G	A	G155612176A	MSTO1	NM_018116.4(MSTO1):c.679-6G>A	noncoding	Benign
1	155612177	T	C	T155612177C	MSTO1	NM_018116.4(MSTO1):c.679-5T>C	noncoding	Benign
1	155612209	G	C	G155612209C	MSTO1	NM_018116.4(MSTO1):c.706G>C:p.Asp236His	coding	Pathogenic/Likely_pathogenic
1	155612313	T	A	T155612313A	MSTO1	NM_018116.4(MSTO1):c.810T>A:p.Arg270=	coding	Benign
1	155613048	G	A	G155613048A	MSTO1	NM_018116.4(MSTO1):c.1099-1G>A	noncoding	Pathogenic
1	155613694	C	T	C155613694T	MSTO1	NM_018116.4(MSTO1):c.1426C>T:p.Pro476Ser	coding	Benign
1	155614146	A	G	A155614146G	MSTO1	NM_018116.4(MSTO1):c.1586A>G:p.Lys529Arg	coding	Benign
1	155614151	G	A	G155614151A	MSTO1	NM_018116.4(MSTO1):c.1591G>A:p.Asp531Asn	coding	Benign
1	155904460	C	A	C155904460A	RIT1	NM_006912.6(RIT1):c.280G>T:p.Glu94Ter	coding	Pathogenic
1	155904489	G	A	G155904489A	RIT1	NM_006912.6(RIT1):c.251C>T:p.Ala84Val	coding	Pathogenic/Likely_pathogenic
1	155904700	C	T	C155904700T	RIT1	NM_006912.6(RIT1):c.237+31G>A	noncoding	Benign
1	155904856	G	A	G155904856A	RIT1	NM_006912.6(RIT1):c.164-52C>T	noncoding	Benign
1	155910368	T	C	T155910368C	RIT1	NM_006912.6(RIT1):c.163+82A>G	noncoding	Benign
1	155910600	T	C	T155910600C	RIT1	NM_006912.6(RIT1):c.106+56A>G	noncoding	Benign
1	155910695	T	C	T155910695C	RIT1	NM_006912.6(RIT1):c.67A>G:p.Lys23Glu	coding	Pathogenic
1	155934386	T	C	T155934386C	KHDC4	NM_014949.4(KHDC4):c.-13A>G	noncoding	Benign
1	155948089	T	A	T155948089A	ARHGEF2	NM_001162383.2(ARHGEF2):c.2888-74A>T	noncoding	Benign
1	155958441	T	C	T155958441C	ARHGEF2	NM_001162383.2(ARHGEF2):c.1469-45A>G	noncoding	Benign
1	155958451	C	T	C155958451T	ARHGEF2	NM_001162383.2(ARHGEF2):c.1469-55G>A	noncoding	Benign
1	155961577	G	A	G155961577A	ARHGEF2	NM_001162383.2(ARHGEF2):c.1468+84C>T	noncoding	Benign
1	156054582	A	G	A156054582G	LAMTOR2	Single_allele	noncoding	Benign
1	156055305	C	T	C156055305T	LAMTOR2	NM_014017.4(LAMTOR2):c.111C>T:p.Tyr37=	coding	Benign
1	156057759	C	T	C156057759T	LAMTOR2	NM_014017.4(LAMTOR2):c.232-219C>T	noncoding	Benign
1	156058394	C	A	C156058394A	LAMTOR2	NM_014017.4(LAMTOR2):c.*23C>A	noncoding	Pathogenic
1	156114771	C	A	C156114771A	LMNA	NM_170707.4(LMNA):c.-148C>A	noncoding	Benign
1	156114772	C	A	C156114772A	LMNA	NM_170707.4(LMNA):c.-147C>A	noncoding	Benign
1	156114821	G	C	G156114821C	LMNA	NM_170707.4(LMNA):c.-98G>C	noncoding	Benign
1	156114919	A	T	A156114919T	LMNA	NM_170707.4(LMNA):c.1A>T:p.Met1Leu	coding	Pathogenic
1	156114961	C	T	C156114961T	LMNA	NM_170707.4(LMNA):c.43C>T:p.Gln15Ter	coding	Pathogenic
1	156115046	C	A	C156115046A	LMNA	NM_170707.4(LMNA):c.128C>A:p.Ala43Glu	coding	Pathogenic
1	156115053	C	G	C156115053G	LMNA	NM_170707.4(LMNA):c.135C>G:p.Tyr45Ter	coding	Pathogenic
1	156115112	A	G	A156115112G	LMNA	NM_170707.4(LMNA):c.194A>G:p.Glu65Gly	coding	Pathogenic
1	156115193	T	C	T156115193C	LMNA	NM_170707.4(LMNA):c.275T>C:p.Leu92Pro	coding	Pathogenic
1	156115252	G	T	G156115252T	LMNA	NM_170707.4(LMNA):c.334G>T:p.Glu112Ter	coding	Pathogenic
1	156126900	A	G	A156126900G	LMNA	NM_170707.4(LMNA):c.357-3717A>G	coding	Benign
1	156127186	G	A	G156127186A	LMNA	NM_170707.4(LMNA):c.357-3431G>A	noncoding	Benign
1	156129839	C	G	C156129839G	LMNA	NM_170707.4(LMNA):c.357-778C>G	noncoding	Benign
1	156130616	G	T	G156130616T	LMNA	NM_170707.4(LMNA):c.357-1G>T	noncoding	Pathogenic
1	156134461	T	G	T156134461G	LMNA	NM_170707.4(LMNA):c.572T>G:p.Val191Gly	coding	Benign/Likely_benign
1	156134522	C	G	C156134522G	LMNA	NM_170707.4(LMNA):c.633C>G:p.Tyr211Ter	coding	Pathogenic
1	156134933	G	A	G156134933A	LMNA	NM_170707.4(LMNA):c.768G>A:p.Val256=	coding	Pathogenic
1	156134977	T	C	T156134977C	LMNA	NM_170707.4(LMNA):c.810+2T>C	noncoding	Pathogenic
1	156135252	G	A	G156135252A	LMNA	NM_170707.4(LMNA):c.876G>A:p.Leu292=	coding	Benign/Likely_benign
1	156135289	C	T	C156135289T	LMNA	NM_170707.4(LMNA):c.913C>T:p.Gln305Ter	coding	Pathogenic
1	156135378	C	T	C156135378T	LMNA	NM_170707.4(LMNA):c.936+66C>T	noncoding	Benign
1	156135890	C	G	C156135890G	LMNA	NM_170707.4(LMNA):c.937-11C>G	noncoding	Pathogenic
1	156136045	G	A	G156136045A	LMNA	NM_170707.4(LMNA):c.1081G>A:p.Glu361Lys	coding	Pathogenic
1	156136080	G	C	G156136080C	LMNA	NM_170707.4(LMNA):c.1116G>C:p.Glu372Asp	coding	Pathogenic/Likely_pathogenic
1	156136114	G	A	G156136114A	LMNA	NM_170707.4(LMNA):c.1150G>A:p.Glu384Lys	coding	Pathogenic
1	156136919	A	C	A156136919C	LMNA	NM_170707.4(LMNA):c.1381-2A>C	noncoding	Pathogenic
1	156136954	C	T	C156136954T	LMNA	NM_170707.4(LMNA):c.1414C>T:p.Gln472Ter	coding	Pathogenic
1	156137097	C	G	C156137097G	LMNA	NM_170707.4(LMNA):c.1489-16C>G	noncoding	Benign/Likely_benign
1	156137166	G	A	G156137166A	LMNA	NM_170707.4(LMNA):c.1542G>A:p.Trp514Ter	coding	Pathogenic
1	156137212	C	T	C156137212T	LMNA	NM_170707.4(LMNA):c.1588C>T:p.Leu530Phe	coding	Pathogenic/Likely_pathogenic
1	156137234	T	G	T156137234G	LMNA	NM_170707.4(LMNA):c.1608+2T>G	noncoding	Pathogenic/Likely_pathogenic
1	156137375	A	G	A156137375G	LMNA	NM_170707.4(LMNA):c.1608+143A>G	noncoding	Benign
1	156137546	G	A	G156137546A	LMNA	NM_170707.4(LMNA):c.1609-108G>A	noncoding	Benign
1	156139185	G	C	G156139185C	LMNA	NM_170707.4(LMNA):c.*79G>C	coding	Benign
1	156139298	A	C	A156139298C	LMNA	NM_170707.4(LMNA):c.*192A>C	coding	Benign
1	156139471	C	T	C156139471T	LMNA	NM_170707.4(LMNA):c.*365C>T	coding	Benign
1	156139499	T	C	T156139499C	LMNA	NM_170707.4(LMNA):c.*393T>C	coding	Benign
1	156140128	C	T	C156140128T	LMNA	Single_allele	noncoding	Benign
1	156158046	G	A	G156158046A	SEMA4A	NM_022367.4(SEMA4A):c.301-24G>A	noncoding	Benign
1	156158348	G	A	G156158348A	SEMA4A	NM_022367.4(SEMA4A):c.364-40G>A	noncoding	Benign
1	156158546	G	A	G156158546A	SEMA4A	NM_022367.4(SEMA4A):c.462+60G>A	noncoding	Benign
1	156175068	T	G	T156175068G	SEMA4A	NM_022367.4(SEMA4A):c.1435-18T>G	noncoding	Benign
1	156556595	C	G	C156556595G	IQGAP3	NM_178229.5(IQGAP3):c.1228G>C:p.Val410Leu	coding	Benign
1	156591622	T	C	T156591622C	NAXE	Single_allele	noncoding	Benign
1	156591859	G	C	G156591859C	NAXE	NM_144772.3(NAXE):c.55G>C:p.Val19Leu	coding	Benign
1	156591932	C	A	C156591932A	NAXE	NM_144772.3(NAXE):c.128C>A:p.Ser43Ter	coding	Pathogenic
1	156591969	G	A	G156591969A	NAXE	NM_144772.3(NAXE):c.165G>A:p.Thr55=	coding	Benign
1	156592000	T	C	T156592000C	NAXE	NM_144772.3(NAXE):c.182+14T>C	noncoding	Benign
1	156592180	G	T	G156592180T	NAXE	NM_144772.3(NAXE):c.262G>T:p.Gly88Trp	coding	Pathogenic
1	156592216	G	A	G156592216A	NAXE	NM_144772.3(NAXE):c.291+7G>A	noncoding	Benign
1	156592351	G	A	G156592351A	NAXE	NM_144772.3(NAXE):c.292-14G>A	noncoding	Benign
1	156593189	T	C	T156593189C	NAXE	NM_144772.3(NAXE):c.517-219T>C	noncoding	Benign
1	156593233	A	G	A156593233G	NAXE	NM_144772.3(NAXE):c.517-175A>G	noncoding	Benign
1	156593393	C	T	C156593393T	NAXE	NM_144772.3(NAXE):c.517-15C>T	noncoding	Benign
1	156593612	T	G	T156593612G	NAXE	NM_144772.3(NAXE):c.664+57T>G	noncoding	Benign
1	156593649	G	A	G156593649A	NAXE	NM_144772.3(NAXE):c.664+94G>A	noncoding	Benign
1	156593669	A	T	A156593669T	NAXE	NM_144772.3(NAXE):c.664+114A>T	noncoding	Benign
1	156593870	C	T	C156593870T	NAXE	NM_144772.3(NAXE):c.665-12C>T	noncoding	Benign
1	156593934	A	C	A156593934C	NAXE	NM_144772.3(NAXE):c.717A>C:p.Ile239=	coding	Benign
1	156594021	G	A	G156594021A	NAXE	NM_144772.3(NAXE):c.804G>A:p.Glu268=	coding	Benign
1	156594042	G	A	G156594042A	NAXE	NM_144772.3(NAXE):c.825G>A:p.Leu275=	coding	Benign
1	156594060	C	T	C156594060T	NAXE	NM_144772.3(NAXE):c.843C>T:p.Thr281=	coding	Benign
1	156594106	T	C	T156594106C	NAXE	NM_144772.3(NAXE):c.*22T>C	noncoding	Benign
1	156594200	C	G	C156594200G	NAXE	NM_144772.3(NAXE):c.*116C>G	noncoding	Benign
1	156670364	G	A	G156670364A	NES	NM_006617.2(NES):c.3824C>T:p.Pro1275Leu	coding	Benign
1	156860694	C	T	C156860694T	NTRK1	NM_001007792.1(NTRK1):c.123-3660C>T	noncoding	Benign
1	156860987	G	A	G156860987A	NTRK1	NM_002529.4(NTRK1):c.53G>A:p.Gly18Glu	coding	Benign/Likely_benign
1	156861302	C	T	C156861302T	NTRK1	NM_002529.4(NTRK1):c.212+156C>T	noncoding	Benign
1	156864370	C	T	C156864370T	NTRK1	NM_002529.4(NTRK1):c.229C>T:p.Gln77Ter	coding	Pathogenic
1	156864440	G	A	G156864440A	NTRK1	NM_002529.4(NTRK1):c.287+12G>A	noncoding	Benign/Likely_benign
1	156864477	G	T	G156864477T	NTRK1	NM_002529.4(NTRK1):c.287+49G>T	noncoding	Benign
1	156864512	G	A	G156864512A	NTRK1	NM_002529.4(NTRK1):c.287+84G>A	noncoding	Benign
1	156864572	G	A	G156864572A	NTRK1	NM_002529.4(NTRK1):c.287+144G>A	noncoding	Benign
1	156866997	A	G	A156866997G	NTRK1	NM_002529.4(NTRK1):c.428+19A>G	noncoding	Benign
1	156867025	C	T	C156867025T	NTRK1	NM_002529.4(NTRK1):c.428+47C>T	noncoding	Benign
1	156867046	T	C	T156867046C	NTRK1	NM_002529.4(NTRK1):c.428+68T>C	noncoding	Benign
1	156867175	A	G	A156867175G	NTRK1	NM_002529.4(NTRK1):c.428+197A>G	noncoding	Benign
1	156867847	G	A	G156867847A	NTRK1	NM_002529.4(NTRK1):c.429-257G>A	noncoding	Benign
1	156868055	T	C	T156868055C	NTRK1	NM_002529.4(NTRK1):c.429-49T>C	noncoding	Benign
1	156868103	G	A	G156868103A	NTRK1	NM_002529.4(NTRK1):c.429-1G>A	noncoding	Pathogenic
1	156868103	G	C	G156868103C	NTRK1	NM_001007792.1(NTRK1):c.339-1G>C	noncoding	Pathogenic
1	156868486	G	A	G156868486A	NTRK1	NM_002529.4(NTRK1):c.575-19G>A	noncoding	Pathogenic/Likely_pathogenic
1	156868525	C	T	C156868525T	NTRK1	NM_002529.4(NTRK1):c.595C>T:p.Gln199Ter	coding	Pathogenic
1	156871756	G	A	G156871756A	NTRK1	NM_002529.4(NTRK1):c.850+1G>A	coding	Pathogenic
1	156871756	G	C	G156871756C	NTRK1	NM_002529.4(NTRK1):c.850+1G>C	coding	Pathogenic
1	156873931	C	T	C156873931T	NTRK1	NM_002529.4(NTRK1):c.1149C>T:p.Phe383=	coding	Benign
1	156875009	G	A	G156875009A	NTRK1	NM_002529.4(NTRK1):c.1354+1G>A	coding	Pathogenic
1	156875026	A	T	A156875026T	NTRK1	NM_002529.4(NTRK1):c.1354+18A>T	noncoding	Benign/Likely_benign
1	156875603	G	T	G156875603T	NTRK1	NM_002529.4(NTRK1):c.1438G>T:p.Glu480Ter	coding	Pathogenic
1	156875881	A	C	A156875881C	NTRK1	NM_002529.4(NTRK1):c.1502-199A>C	noncoding	Benign
1	156876328	C	T	C156876328T	NTRK1	NM_002529.4(NTRK1):c.1633-72C>T	noncoding	Benign
1	156876399	G	A	G156876399A	NTRK1	NM_002529.4(NTRK1):c.1633-1G>A	noncoding	Pathogenic
1	156876572	G	A	G156876572A	NTRK1	NM_002529.4(NTRK1):c.1805G>A:p.Arg602Gln	coding	Pathogenic/Likely_pathogenic
1	156879050	G	A	G156879050A	NTRK1	NM_002529.4(NTRK1):c.1806-72G>A	noncoding	Benign
1	156879276	C	T	C156879276T	NTRK1	NM_002529.4(NTRK1):c.1960C>T:p.Arg654Cys	coding	Pathogenic
1	156879297	G	T	G156879297T	NTRK1	NM_002529.4(NTRK1):c.1981G>T:p.Gly661Ter	coding	Pathogenic
1	156879760	G	A	G156879760A	NTRK1	NM_002529.4(NTRK1):c.2047-239G>A	noncoding	Benign
1	156880026	C	T	C156880026T	NTRK1	NM_002529.4(NTRK1):c.2074C>T:p.Arg692Cys	coding	Pathogenic
1	156880030	G	A	G156880030A	NTRK1	NM_002529.4(NTRK1):c.2078G>A:p.Trp693Ter	coding	Pathogenic
1	156880036	C	T	C156880036T	NTRK1	NM_002529.4(NTRK1):c.2084C>T:p.Pro695Leu	coding	Pathogenic
1	156880085	G	A	G156880085A	NTRK1	NM_002529.4(NTRK1):c.2133G>A:p.Trp711Ter	coding	Pathogenic
1	156880122	G	A	G156880122A	NTRK1	NM_002529.4(NTRK1):c.2170G>A:p.Gly724Ser	coding	Pathogenic
1	156880286	C	T	C156880286T	NTRK1	NM_002529.4(NTRK1):c.2205+129C>T	noncoding	Benign
1	156881230	C	T	C156881230T	NTRK1	NM_002529.4(NTRK1):c.2206-227C>T	noncoding	Benign
1	156881562	C	T	C156881562T	NTRK1	NM_002529.4(NTRK1):c.2311C>T:p.Arg771Cys	coding	Pathogenic
1	156913423	C	A	C156913423A	PEAR1	NM_001080471.3(PEAR1):c.2544C>A:p.Asn848Lys	coding	Benign
1	157678753	T	C	T157678753C	FCRL3	NM_052939.4(FCRL3):c.2162A>G:p.Asn721Ser	coding	Benign
1	158076175	G	A	G158076175A	KIRREL1	NM_018240.7(KIRREL1):c.115G>A:p.Val39Met	coding	Benign
1	158091403	C	T	C158091403T	KIRREL1	NM_018240.7(KIRREL1):c.1318C>T:p.Arg440Cys	coding	Pathogenic
1	158093761	C	T	C158093761T	KIRREL1	NM_018240.7(KIRREL1):c.1718C>T:p.Ser573Leu	coding	Pathogenic
1	158614620	G	A	G158614620A	SPTA1	NM_003126.4(SPTA1):c.6789-314C>T	noncoding	Benign
1	158615205	G	A	G158615205A	SPTA1	NM_003126.4(SPTA1):c.6788+11C>T	noncoding	Pathogenic
1	158617600	C	T	C158617600T	SPTA1	NM_003126.4(SPTA1):c.6549-12G>A	noncoding	Benign/Likely_benign
1	158617610	T	G	T158617610G	SPTA1	NM_003126.4(SPTA1):c.6549-22A>C	noncoding	Benign
1	158617982	C	T	C158617982T	SPTA1	NM_003126.4(SPTA1):c.6548+57G>A	noncoding	Benign
1	158617994	T	G	T158617994G	SPTA1	NM_003126.4(SPTA1):c.6548+45A>C	noncoding	Benign
1	158618356	G	A	G158618356A	SPTA1	NM_003126.4(SPTA1):c.6531-300C>T	noncoding	Benign
1	158618373	C	A	C158618373A	SPTA1	NM_003126.4(SPTA1):c.6531-317G>T	noncoding	Benign
1	158619126	C	G	C158619126G	SPTA1	NM_003126.4(SPTA1):c.6530+96G>C	noncoding	Benign
1	158619646	C	T	C158619646T	SPTA1	NM_003126.4(SPTA1):c.6418-312G>A	noncoding	Benign
1	158622726	T	C	T158622726C	SPTA1	NM_003126.4(SPTA1):c.6120+257A>G	noncoding	Benign
1	158626034	T	C	T158626034C	SPTA1	NM_003126.4(SPTA1):c.5910+112A>G	noncoding	Benign
1	158626052	C	A	C158626052A	SPTA1	NM_003126.4(SPTA1):c.5910+94G>T	noncoding	Benign
1	158626734	A	G	A158626734G	SPTA1	NM_003126.4(SPTA1):c.5833+105T>C	noncoding	Benign
1	158627506	G	C	G158627506C	SPTA1	NM_003126.4(SPTA1):c.5664+119C>G	noncoding	Benign
1	158627519	A	G	A158627519G	SPTA1	NM_003126.4(SPTA1):c.5664+106T>C	noncoding	Benign
1	158627952	T	C	T158627952C	SPTA1	NM_003126.4(SPTA1):c.5566-229A>G	noncoding	Benign
1	158634353	G	A	G158634353A	SPTA1	NM_003126.4(SPTA1):c.5565+190C>T	noncoding	Benign
1	158635703	G	A	G158635703A	SPTA1	NM_003126.4(SPTA1):c.5432+210C>T	noncoding	Benign
1	158635959	G	A	G158635959A	SPTA1	NM_003126.4(SPTA1):c.5386C>T:p.Gln1796Ter	coding	Pathogenic
1	158637819	T	C	T158637819C	SPTA1	NM_003126.4(SPTA1):c.5189+214A>G	noncoding	Benign
1	158637998	T	G	T158637998G	SPTA1	NM_003126.4(SPTA1):c.5189+35A>C	noncoding	Benign
1	158638145	T	G	T158638145G	SPTA1	NM_003126.4(SPTA1):c.5077A>C:p.Lys1693Gln	coding	Benign
1	158638388	G	A	G158638388A	SPTA1	NM_003126.4(SPTA1):c.4981-147C>T	noncoding	Benign
1	158639281	C	T	C158639281T	SPTA1	NM_003126.4(SPTA1):c.4980+301G>A	noncoding	Benign
1	158639510	C	G	C158639510G	SPTA1	NM_003126.4(SPTA1):c.4980+72G>C	noncoding	Benign
1	158642900	G	A	G158642900A	SPTA1	NM_003126.4(SPTA1):c.4519C>T:p.Arg1507Ter	coding	Pathogenic
1	158642977	C	T	C158642977T	SPTA1	NM_003126.4(SPTA1):c.4443-1G>A	coding	Pathogenic
1	158643427	T	G	T158643427G	SPTA1	NM_003126.4(SPTA1):c.4339-2A>C	noncoding	Pathogenic
1	158643524	G	A	G158643524A	SPTA1	NM_003126.4(SPTA1):c.4339-99C>T	noncoding	Pathogenic
1	158645427	T	C	T158645427C	SPTA1	NM_003126.4(SPTA1):c.3997-42A>G	noncoding	Benign
1	158647520	G	A	G158647520A	SPTA1	NM_003126.4(SPTA1):c.3896+19C>T	noncoding	Benign
1	158647612	G	A	G158647612A	SPTA1	NM_003126.4(SPTA1):c.3823C>T:p.Gln1275Ter	coding	Pathogenic
1	158648433	C	T	C158648433T	SPTA1	NM_003126.4(SPTA1):c.3714+76G>A	noncoding	Benign
1	158648690	A	T	A158648690T	SPTA1	NM_003126.4(SPTA1):c.3570-37T>A	noncoding	Benign
1	158651366	C	G	C158651366G	SPTA1	NM_003126.4(SPTA1):c.3477+1G>C	noncoding	Pathogenic
1	158653299	G	A	G158653299A	SPTA1	NM_003126.4(SPTA1):c.3163C>T:p.Gln1055Ter	coding	Pathogenic
1	158653323	G	A	G158653323A	SPTA1	NM_003126.4(SPTA1):c.3139C>T:p.Arg1047Ter	coding	Pathogenic
1	158654709	G	A	G158654709A	SPTA1	NM_003126.4(SPTA1):c.2938C>T:p.Gln980Ter	coding	Pathogenic/Likely_pathogenic
1	158654989	T	C	T158654989C	SPTA1	NM_003126.4(SPTA1):c.2899-241A>G	noncoding	Benign
1	158656644	T	A	T158656644A	SPTA1	NM_003126.4(SPTA1):c.2818A>T:p.Lys940Ter	coding	Pathogenic
1	158657611	G	A	G158657611A	SPTA1	NM_003126.4(SPTA1):c.2671C>T:p.Arg891Ter	coding	Pathogenic
1	158661467	C	T	C158661467T	SPTA1	NM_003126.4(SPTA1):c.2465-58G>A	noncoding	Benign
1	158666062	A	G	A158666062G	SPTA1	NM_003126.4(SPTA1):c.2220+254T>C	noncoding	Benign
1	158668325	C	A	C158668325A	SPTA1	NM_003126.4(SPTA1):c.1834-263G>T	noncoding	Benign
1	158669811	A	G	A158669811G	SPTA1	NM_003126.4(SPTA1):c.1600-25T>C	noncoding	Benign
1	158671049	G	T	G158671049T	SPTA1	NM_003126.4(SPTA1):c.1599+294C>A	noncoding	Benign
1	158671651	T	C	T158671651C	SPTA1	NM_003126.4(SPTA1):c.1489-198A>G	noncoding	Benign
1	158676510	C	T	C158676510T	SPTA1	NM_003126.4(SPTA1):c.958-215G>A	noncoding	Benign
1	158677522	A	G	A158677522G	SPTA1	NM_003126.4(SPTA1):c.957+168T>C	noncoding	Benign
1	158677879	T	C	T158677879C	SPTA1	NM_003126.4(SPTA1):c.813-45A>G	noncoding	Benign
1	158678218	C	A	C158678218A	SPTA1	NM_003126.4(SPTA1):c.812+183G>T	noncoding	Benign
1	158678434	A	G	A158678434G	SPTA1	NM_003126.4(SPTA1):c.779T>C:p.Leu260Pro	coding	Pathogenic/Likely_pathogenic
1	158678700	T	C	T158678700C	SPTA1	NM_003126.4(SPTA1):c.679-166A>G	noncoding	Benign
1	158680601	A	T	A158680601T	SPTA1	NM_003126.4(SPTA1):c.660T>A:p.Tyr220Ter	coding	Pathogenic/Likely_pathogenic
1	158681053	C	T	C158681053T	SPTA1	NM_003126.4(SPTA1):c.532-324G>A	noncoding	Benign
1	158681577	G	A	G158681577A	SPTA1	NM_003126.4(SPTA1):c.481C>T:p.Gln161Ter	coding	Pathogenic
1	158682000	C	T	C158682000T	SPTA1	NM_003126.4(SPTA1):c.391-333G>A	noncoding	Benign
1	158683719	A	G	A158683719G	SPTA1	NM_003126.4(SPTA1):c.265-223T>C	noncoding	Benign
1	158684797	A	T	A158684797T	SPTA1	NM_003126.4(SPTA1):c.264+311T>A	noncoding	Benign
1	158684832	A	G	A158684832G	SPTA1	NM_003126.4(SPTA1):c.264+276T>C	noncoding	Benign
1	158684868	T	C	T158684868C	SPTA1	NM_003126.4(SPTA1):c.264+240A>G	noncoding	Benign
1	158684869	G	A	G158684869A	SPTA1	NM_003126.4(SPTA1):c.264+239C>T	noncoding	Benign
1	158684996	C	T	C158684996T	SPTA1	NM_003126.4(SPTA1):c.264+112G>A	noncoding	Benign
1	158685062	A	G	A158685062G	SPTA1	NM_003126.4(SPTA1):c.264+46T>C	noncoding	Benign
1	158685194	G	A	G158685194A	SPTA1	NM_003126.4(SPTA1):c.178C>T:p.Arg60Ter	coding	Pathogenic
1	158685372	C	A	C158685372A	SPTA1	NM_003126.4(SPTA1):c.25-25G>T	noncoding	Benign
1	158685525	T	A	T158685525A	SPTA1	NM_003126.4(SPTA1):c.25-178A>T	noncoding	Benign
1	158685628	A	T	A158685628T	SPTA1	NM_003126.4(SPTA1):c.25-281T>A	noncoding	Benign
1	158685648	C	T	C158685648T	SPTA1	NM_003126.4(SPTA1):c.25-301G>A	noncoding	Benign
1	158685668	A	C	A158685668C	SPTA1	NM_003126.4(SPTA1):c.25-321T>G	noncoding	Benign
1	158686218	A	C	A158686218C	SPTA1	NM_003126.4(SPTA1):c.24+276T>G	noncoding	Benign
1	158686493	C	T	C158686493T	SPTA1	NM_003126.4(SPTA1):c.24+1G>A	noncoding	Pathogenic
1	158686851	C	A	C158686851A	SPTA1	Single_allele	noncoding	Benign
1	158686852	C	A	C158686852A	SPTA1	Single_allele	noncoding	Benign
1	158686863	A	T	A158686863T	SPTA1	Single_allele	noncoding	Benign
1	158686968	A	G	A158686968G	SPTA1	Single_allele	noncoding	Benign
1	159054878	A	T	A159054878T	IFI16	NM_001376587.1(IFI16):c.2335A>T:p.Thr779Ser	coding	Benign
1	159193453	A	G	A159193453G	CADM3	NM_001127173.3(CADM3):c.413A>G:p.Tyr138Cys	coding	Pathogenic
1	159880691	G	A	G159880691A	CFAP45	NM_012337.3(CFAP45):c.907C>T:p.Arg303Ter	coding	Pathogenic
1	159886557	G	A	G159886557A	CFAP45	NM_012337.3(CFAP45):c.721C>T:p.Gln241Ter	coding	Pathogenic
1	159934749	A	G	A159934749G	IGSF9	NM_001135050.2(IGSF9):c.747T>C:p.His249=	coding	Benign
1	160030590	T	C	T160030590C	PIGM	NM_145167.3(PIGM):c.1150A>G:p.Asn384Asp	coding	Benign
1	160030645	A	T	A160030645T	PIGM	NM_145167.3(PIGM):c.1095T>A:p.Phe365Leu	coding	Benign
1	160030741	G	A	G160030741A	PIGM	NM_145167.3(PIGM):c.999C>T:p.Ser333=	coding	Benign
1	160031560	G	A	G160031560A	PIGM	NM_145167.3(PIGM):c.180C>T:p.Arg60=	coding	Benign/Likely_benign
1	160031876	T	C	T160031876C	PIGM	NM_145167.3(PIGM):c.-137A>G	noncoding	Benign
1	160032114	C	A	C160032114A	PIGM	Single_allele	noncoding	Benign
1	160032179	C	T	C160032179T	PIGM	Single_allele	noncoding	Benign
1	160042616	A	G	A160042616G	KCNJ10	NM_002241.5(KCNJ10):c.1-84T>C	noncoding	Benign
1	160069869	G	A	G160069869A	KCNJ10	NM_002241.5(KCNJ10):c.-1+153C>T	noncoding	Benign
1	160070222	C	T	C160070222T	KCNJ10	Single_allele	noncoding	Benign
1	160070284	G	T	G160070284T	KCNJ10	Single_allele	noncoding	Benign
1	160120669	T	G	T160120669G	ATP1A2	NM_000702.4(ATP1A2):c.13-237T>G	noncoding	Benign
1	160120895	T	C	T160120895C	ATP1A2	NM_000702.4(ATP1A2):c.13-11T>C	noncoding	Benign
1	160121346	T	C	T160121346C	ATP1A2	NM_000702.4(ATP1A2):c.177+95T>C	noncoding	Benign
1	160123192	C	T	C160123192T	ATP1A2	NM_000702.4(ATP1A2):c.178-21C>T	noncoding	Benign/Likely_benign
1	160123858	G	A	G160123858A	ATP1A2	NM_000702.4(ATP1A2):c.382-85G>A	noncoding	Benign
1	160123902	G	T	G160123902T	ATP1A2	NM_000702.4(ATP1A2):c.382-41G>T	noncoding	Benign
1	160124388	C	T	C160124388T	ATP1A2	NM_000702.4(ATP1A2):c.588C>T:p.Arg196=	coding	Benign/Likely_benign
1	160125120	A	G	A160125120G	ATP1A2	NM_000702.4(ATP1A2):c.631-16A>G	noncoding	Benign/Likely_benign
1	160128731	G	T	G160128731T	ATP1A2	NM_000702.4(ATP1A2):c.1097G>T:p.Gly366Val	coding	Pathogenic
1	160128767	C	A	C160128767A	ATP1A2	NM_000702.4(ATP1A2):c.1133C>A:p.Thr378Asn	coding	Pathogenic/Likely_pathogenic
1	160128782	G	A	G160128782A	ATP1A2	NM_000702.4(ATP1A2):c.1148G>A:p.Arg383His	coding	Pathogenic/Likely_pathogenic
1	160129354	A	G	A160129354G	ATP1A2	NM_000702.4(ATP1A2):c.1415A>G:p.Asn472Ser	coding	Benign/Likely_benign
1	160130340	C	T	C160130340T	ATP1A2	NM_000702.4(ATP1A2):c.1651+49C>T	noncoding	Benign
1	160134659	A	C	A160134659C	ATP1A2	NM_000702.4(ATP1A2):c.1964+39A>C	noncoding	Benign
1	160135420	C	T	C160135420T	ATP1A2	NM_000702.4(ATP1A2):c.2116-14C>T	noncoding	Benign/Likely_benign
1	160135591	G	C	G160135591C	ATP1A2	NM_000702.4(ATP1A2):c.2273G>C:p.Gly758Ala	coding	Benign/Likely_benign
1	160135753	T	C	T160135753C	ATP1A2	NM_000702.4(ATP1A2):c.2285-86T>C	noncoding	Benign
1	160135792	G	A	G160135792A	ATP1A2	NM_000702.4(ATP1A2):c.2285-47G>A	noncoding	Benign
1	160135837	A	C	A160135837C	ATP1A2	NM_000702.4(ATP1A2):c.2285-2A>C	noncoding	Pathogenic
1	160135890	G	A	G160135890A	ATP1A2	NM_000702.4(ATP1A2):c.2336G>A:p.Ser779Asn	coding	Pathogenic
1	160135911	C	T	C160135911T	ATP1A2	NM_000702.4(ATP1A2):c.2357C>T:p.Pro786Leu	coding	Pathogenic
1	160136237	C	T	C160136237T	ATP1A2	NM_000702.4(ATP1A2):c.2440-10C>T	noncoding	Benign
1	160136308	G	A	G160136308A	ATP1A2	NM_000702.4(ATP1A2):c.2501G>A:p.Arg834Gln	coding	Pathogenic
1	160136384	C	T	C160136384T	ATP1A2	NM_000702.4(ATP1A2):c.2563+14C>T	noncoding	Benign
1	160136741	G	A	G160136741A	ATP1A2	NM_000702.4(ATP1A2):c.2709+26G>A	noncoding	Benign
1	160136758	C	T	C160136758T	ATP1A2	NM_000702.4(ATP1A2):c.2709+43C>T	noncoding	Benign
1	160136914	G	A	G160136914A	ATP1A2	NM_000702.4(ATP1A2):c.2723G>A:p.Arg908Gln	coding	Pathogenic
1	160137207	C	T	C160137207T	ATP1A2	NM_000702.4(ATP1A2):c.2840+176C>T	noncoding	Benign
1	160139397	A	G	A160139397G	ATP1A2	NM_000702.4(ATP1A2):c.2841-243A>G	noncoding	Benign
1	160139735	C	T	C160139735T	ATP1A2	NM_000702.4(ATP1A2):c.2936C>T:p.Pro979Leu	coding	Pathogenic
1	160139846	C	G	C160139846G	ATP1A2	NM_000702.4(ATP1A2):c.2943-47C>G	noncoding	Benign
1	160139866	G	C	G160139866C	ATP1A2	NM_000702.4(ATP1A2):c.2943-27G>C	noncoding	Benign
1	160139874	T	A	T160139874A	ATP1A2	NM_000702.4(ATP1A2):c.2943-19T>A	noncoding	Benign
1	160139977	T	A	T160139977A	ATP1A2	NM_000702.4(ATP1A2):c.3027T>A:p.Tyr1009Ter	coding	Pathogenic/Likely_pathogenic
1	160140045	G	A	G160140045A	ATP1A2	NM_000702.4(ATP1A2):c.3034+61G>A	noncoding	Benign
1	160141151	C	T	C160141151T	ATP1A2	NM_000702.4(ATP1A2):c.3035-143C>T	noncoding	Benign
1	160190790	G	A	G160190790A	CASQ1	NM_001231.5(CASQ1):c.39G>A:p.Pro13=	coding	Benign/Likely_benign
1	160190880	C	T	C160190880T	CASQ1	NM_001231.5(CASQ1):c.129C>T:p.Tyr43=	coding	Benign
1	160191011	T	C	T160191011C	CASQ1	NM_001231.5(CASQ1):c.260T>C:p.Met87Thr	coding	Benign
1	160192782	A	G	A160192782G	CASQ1	NM_001231.5(CASQ1):c.280-20A>G	noncoding	Benign
1	160193826	C	T	C160193826T	CASQ1	NM_001231.5(CASQ1):c.444C>T:p.Thr148=	coding	Benign/Likely_benign
1	160195037	T	C	T160195037C	CASQ1	NM_001231.5(CASQ1):c.491T>C:p.Ile164Thr	coding	Benign
1	160195882	C	T	C160195882T	CASQ1	NM_001231.5(CASQ1):c.652-15C>T	noncoding	Benign
1	160195989	C	T	C160195989T	CASQ1	NM_001231.5(CASQ1):c.744C>T:p.Ser248=	coding	Benign/Likely_benign
1	160196046	C	G	C160196046G	CASQ1	NM_001231.5(CASQ1):c.782+19C>G	noncoding	Benign
1	160197630	C	T	C160197630T	CASQ1	NM_001231.5(CASQ1):c.828+16C>T	noncoding	Benign
1	160198658	C	T	C160198658T	CASQ1	NM_001231.5(CASQ1):c.829-19C>T	noncoding	Benign
1	160199047	C	T	C160199047T	CASQ1	NM_001231.5(CASQ1):c.978C>T:p.Phe326=	coding	Benign
1	160199915	A	G	A160199915G	CASQ1	NM_001231.5(CASQ1):c.1049A>G:p.Asn350Ser	coding	Benign
1	160201228	C	A	C160201228A	CASQ1	NM_001231.5(CASQ1):c.1060-17C>A	noncoding	Benign
1	160280115	G	A	G160280115A	PEX19	NM_002857.4(PEX19):c.726C>T:p.Thr242=	coding	Benign/Likely_benign
1	160281782	A	G	A160281782G	PEX19	NM_002857.4(PEX19):c.594+257T>C	noncoding	Benign
1	160281884	C	A	C160281884A	PEX19	NM_002857.4(PEX19):c.594+155G>T	noncoding	Benign
1	160282002	A	G	A160282002G	PEX19	NM_002857.4(PEX19):c.594+37T>C	noncoding	Benign
1	160282515	A	T	A160282515T	PEX19	NM_002857.4(PEX19):c.347-13T>A	noncoding	Benign
1	160283155	A	G	A160283155G	PEX19	NM_002857.4(PEX19):c.181-46T>C	noncoding	Benign
1	160285165	G	A	G160285165A	PEX19	NM_002857.3(PEX19):c.-41C>T	noncoding	Benign/Likely_benign
1	160285213	G	A	G160285213A	PEX19	Single_allele	noncoding	Benign
1	160290236	G	C	G160290236C	COPA	NM_004371.4(COPA):c.3616-20C>G	noncoding	Benign
1	160291424	G	A	G160291424A	COPA	NM_004371.4(COPA):c.3331C>T:p.Leu1111=	coding	Benign
1	160291885	C	T	C160291885T	COPA	NM_004371.4(COPA):c.3192G>A:p.Leu1064=	coding	Benign
1	160292471	A	C	A160292471C	COPA	NM_004371.4(COPA):c.2960+13T>G	noncoding	Benign
1	160292494	T	G	T160292494G	COPA	NM_004371.4(COPA):c.2950A>C:p.Asn984His	coding	Benign
1	160292636	A	G	A160292636G	COPA	NM_004371.4(COPA):c.2824-16T>C	noncoding	Benign
1	160295716	T	C	T160295716C	COPA	NM_004371.4(COPA):c.2476+20A>G	noncoding	Benign
1	160295725	T	C	T160295725C	COPA	NM_004371.4(COPA):c.2476+11A>G	noncoding	Benign
1	160295878	G	C	G160295878C	COPA	NM_004371.4(COPA):c.2353-19C>G	noncoding	Benign
1	160297765	G	A	G160297765A	COPA	NM_004371.4(COPA):c.1978-20C>T	noncoding	Benign
1	160305784	T	C	T160305784C	COPA	NM_004371.4(COPA):c.1443-11A>G	noncoding	Benign
1	160310272	T	C	T160310272C	COPA	NM_004371.4(COPA):c.1077-14A>G	noncoding	Benign
1	160311855	A	T	A160311855T	COPA	NM_004371.4(COPA):c.1076+13T>A	noncoding	Benign
1	160314114	A	G	A160314114G	COPA	NM_004371.4(COPA):c.718T>C:p.Trp240Arg	coding	Pathogenic
1	160325672	G	A	G160325672A	COPA	NM_004371.4(COPA):c.497-20C>T	noncoding	Benign
1	160332464	G	A	G160332464A	COPA	NM_004371.4(COPA):c.480C>T:p.Arg160=	coding	Benign
1	160332512	G	A	G160332512A	COPA	NM_004371.4(COPA):c.432C>T:p.His144=	coding	Benign
1	160333626	G	A	G160333626A	COPA	NM_004371.4(COPA):c.363C>T:p.Asn121=	coding	Benign
1	160343114	C	G	C160343114G	COPA	NM_004371.4(COPA):c.40+17G>C	noncoding	Benign
1	160343450	T	C	T160343450C	NCSTN	NM_015331.3(NCSTN):c.54T>C:p.Leu18=	coding	Benign
1	160344733	G	A	G160344733A	NCSTN	NM_015331.3(NCSTN):c.97G>A:p.Gly33Arg	coding	Pathogenic
1	160349018	A	G	A160349018G	NCSTN	NM_015331.3(NCSTN):c.210A>G:p.Thr70=	coding	Benign
1	160349030	C	T	C160349030T	NCSTN	NM_015331.3(NCSTN):c.222C>T:p.His74=	coding	Benign
1	160350166	G	A	G160350166A	NCSTN	NM_015331.3(NCSTN):c.498G>A:p.Ser166=	coding	Benign
1	160351390	C	G	C160351390G	NCSTN	NM_015331.3(NCSTN):c.733+18C>G	noncoding	Benign
1	160351391	A	T	A160351391T	NCSTN	NM_015331.3(NCSTN):c.733+19A>T	noncoding	Benign
1	160351691	C	T	C160351691T	NCSTN	NM_015331.3(NCSTN):c.734-5C>T	noncoding	Benign
1	160351709	C	T	C160351709T	NCSTN	NM_015331.3(NCSTN):c.747C>T:p.Asp249=	coding	Benign
1	160352152	G	A	G160352152A	NCSTN	NM_015331.3(NCSTN):c.942G>A:p.Lys314=	coding	Benign
1	160352949	C	T	C160352949T	NCSTN	NM_015331.3(NCSTN):c.1059C>T:p.Pro353=	coding	Benign
1	160353004	T	C	T160353004C	NCSTN	NM_015331.3(NCSTN):c.1101+13T>C	noncoding	Benign
1	160354113	C	G	C160354113G	NCSTN	NM_015331.3(NCSTN):c.1180-5C>G	noncoding	Benign
1	160354187	A	T	A160354187T	NCSTN	NM_015331.3(NCSTN):c.1249A>T:p.Asn417Tyr	coding	Benign
1	160354223	C	T	C160354223T	NCSTN	NM_015331.3(NCSTN):c.1285C>T:p.Arg429Ter	coding	Pathogenic
1	160355651	G	C	G160355651C	NCSTN	NM_015331.3(NCSTN):c.1353-4G>C	noncoding	Benign
1	160355877	G	C	G160355877C	NCSTN	NM_015331.3(NCSTN):c.1470G>C:p.Val490=	coding	Benign
1	160355978	C	T	C160355978T	NCSTN	NM_015331.3(NCSTN):c.1551+20C>T	noncoding	Benign
1	160356343	C	G	C160356343G	NCSTN	NM_015331.3(NCSTN):c.1635C>G:p.Tyr545Ter	coding	Pathogenic
1	160358163	A	G	A160358163G	NCSTN	NM_015331.3(NCSTN):c.2022A>G:p.Thr674=	coding	Benign
1	160358245	C	T	C160358245T	NCSTN	NM_015331.3(NCSTN):c.2104C>T:p.Arg702Trp	coding	Benign
1	160424115	A	G	A160424115G	VANGL2	NM_020335.3(VANGL2):c.1137A>G:p.Lys379=	coding	Benign
1	160823770	A	G	A160823770G	LY9	NM_002348.4(LY9):c.1804A>G:p.Met602Val	coding	Benign
1	160830769	A	G	A160830769G	CD244	NM_016382.4(CD244):c.*578T>C	noncoding	Benign
1	161074389	C	T	C161074389T	NECTIN4	NM_030916.3(NECTIN4):c.1001-16G>A	noncoding	Benign
1	161074593	T	C	T161074593C	NECTIN4	NM_030916.3(NECTIN4):c.1000+18A>G	noncoding	Benign
1	161074731	G	A	G161074731A	NECTIN4	NM_030916.3(NECTIN4):c.880C>T:p.Arg294Ter	coding	Pathogenic
1	161074759	C	A	C161074759A	NECTIN4	NM_030916.3(NECTIN4):c.852G>T:p.Arg284=	coding	Benign/Likely_benign
1	161079593	G	T	G161079593T	NECTIN4	NM_030916.3(NECTIN4):c.436C>A:p.Leu146Met	coding	Benign
1	161079719	G	T	G161079719T	NECTIN4	NM_030916.3(NECTIN4):c.310C>A:p.Pro104Thr	coding	Benign
1	161079872	A	G	A161079872G	NECTIN4	NM_030916.3(NECTIN4):c.157T>C:p.Phe53Leu	coding	Benign
1	161165769	A	G	A161165769G	PPOX	NC_000001.10:g.161135559A>G	noncoding	Benign
1	161166553	C	G	C161166553G	PPOX	NM_001122764.3(PPOX):c.-128C>G	noncoding	Benign/Likely_benign
1	161167053	C	G	C161167053G	PPOX	NM_001122764.3(PPOX):c.88-47C>G	noncoding	Benign
1	161167151	C	T	C161167151T	PPOX	NM_001122764.3(PPOX):c.139C>T:p.Arg47Ter	coding	Pathogenic
1	161167486	G	C	G161167486C	PPOX	NM_001122764.3(PPOX):c.338G>C:p.Arg113Thr	coding	Pathogenic
1	161167668	G	A	G161167668A	PPOX	NM_001122764.3(PPOX):c.338+182G>A	noncoding	Benign
1	161168053	G	T	G161168053T	PPOX	NM_001122764.3(PPOX):c.397G>T:p.Glu133Ter	coding	Pathogenic
1	161169179	G	A	G161169179A	PPOX	NM_001122764.3(PPOX):c.803G>A:p.Trp268Ter	coding	Pathogenic
1	161169659	G	A	G161169659A	PPOX	NM_001122764.3(PPOX):c.808-1G>A	noncoding	Pathogenic
1	161170040	G	A	G161170040A	PPOX	NM_001122764.3(PPOX):c.987+16G>A	noncoding	Benign
1	161170161	C	T	C161170161T	PPOX	NM_001122764.3(PPOX):c.987+137C>T	noncoding	Benign
1	161170785	C	A	C161170785A	PPOX	NM_001122764.3(PPOX):c.1248+16C>A	noncoding	Benign
1	161170938	G	A	G161170938A	PPOX	NM_001122764.3(PPOX):c.1280G>A:p.Trp427Ter	coding	Pathogenic
1	161203469	G	A	G161203469A	NDUFS2	NM_001377299.1(NDUFS2):c.128G>A:p.Trp43Ter	coding	Pathogenic
1	161206347	A	G	A161206347G	NDUFS2	NM_001377299.1(NDUFS2):c.203-60A>G	noncoding	Benign
1	161210087	G	A	G161210087A	NDUFS2	NM_001377299.1(NDUFS2):c.703-24G>A	noncoding	Benign
1	161212418	C	G	C161212418G	NDUFS2	NM_001377299.1(NDUFS2):c.1054C>G:p.Pro352Ala	coding	Benign/Likely_benign
1	161223893	G	A	G161223893A	APOA2	NG_012043.1:g.4736C>T	noncoding	Pathogenic
1	161304658	G	C	G161304658C	MPZ	Single_allele	noncoding	Benign
1	161306006	C	G	C161306006G	MPZ	NM_000530.8(MPZ):c.646-29G>C	noncoding	Benign
1	161306342	G	A	G161306342A	MPZ	NM_000530.8(MPZ):c.571C>T:p.Gln191Ter	coding	Pathogenic
1	161306451	G	T	G161306451T	MPZ	NM_000530.8(MPZ):c.462C>A:p.Tyr154Ter	coding	Pathogenic
1	161306755	T	A	T161306755A	MPZ	NM_000530.8(MPZ):c.401A>T:p.Asp134Val	coding	Pathogenic
1	161306762	G	C	G161306762C	MPZ	NM_000530.8(MPZ):c.394C>G:p.Pro132Ala	coding	Pathogenic
1	161306764	T	C	T161306764C	MPZ	NM_000530.8(MPZ):c.392A>G:p.Asn131Ser	coding	Pathogenic
1	161306847	C	A	C161306847A	MPZ	NM_000530.8(MPZ):c.309G>T:p.Gly103=	coding	Pathogenic/Likely_pathogenic
1	161306922	C	A	C161306922A	MPZ	NM_000530.8(MPZ):c.235-1G>T	coding	Pathogenic/Likely_pathogenic
1	161307281	C	A	C161307281A	MPZ	NM_000530.8(MPZ):c.211G>T:p.Glu71Ter	coding	Pathogenic
1	161307284	G	A	G161307284A	MPZ	NM_000530.8(MPZ):c.208C>T:p.Pro70Ser	coding	Pathogenic
1	161307298	G	T	G161307298T	MPZ	NM_000530.8(MPZ):c.194C>A:p.Thr65Asn	coding	Pathogenic/Likely_pathogenic
1	161307321	C	T	C161307321T	MPZ	NM_000530.8(MPZ):c.171G>A:p.Trp57Ter	coding	Pathogenic
1	161314736	C	T	C161314736T	SDHC	NM_003001.5(SDHC):c.20+311C>T	noncoding	Benign
1	161323403	C	T	C161323403T	SDHC	NM_003001.5(SDHC):c.21-211C>T	noncoding	Benign
1	161323425	A	G	A161323425G	SDHC	NM_003001.5(SDHC):c.21-189A>G	noncoding	Benign
1	161323518	C	T	C161323518T	SDHC	NM_003001.5(SDHC):c.21-96C>T	noncoding	Benign
1	161323698	A	T	A161323698T	SDHC	NM_003001.5(SDHC):c.77+28A>T	noncoding	Benign
1	161324014	T	C	T161324014C	SDHC	NM_003001.5(SDHC):c.77+344T>C	noncoding	Benign
1	161328373	C	G	C161328373G	SDHC	NM_003001.5(SDHC):c.78-23C>G	noncoding	Benign
1	161340496	G	A	G161340496A	SDHC	NM_003001.5(SDHC):c.180-98G>A	noncoding	Benign
1	161340628	C	G	C161340628G	SDHC	NM_003001.5(SDHC):c.214C>G:p.Arg72Gly	coding	Pathogenic
1	161340629	G	T	G161340629T	SDHC	NM_003001.5(SDHC):c.215G>T:p.Arg72Leu	coding	Pathogenic
1	161340729	C	T	C161340729T	SDHC	NM_003001.5(SDHC):c.241+74C>T	noncoding	Benign
1	161356812	A	G	A161356812G	SDHC	NM_003001.5(SDHC):c.377A>G:p.Tyr126Cys	coding	Pathogenic/Likely_pathogenic
1	161356814	C	G	C161356814G	SDHC	NM_003001.5(SDHC):c.379C>G:p.His127Asp	coding	Pathogenic
1	161356814	C	T	C161356814T	SDHC	NM_003001.5(SDHC):c.379C>T:p.His127Tyr	coding	Pathogenic/Likely_pathogenic
1	161356853	G	A	G161356853A	SDHC	NM_003001.5(SDHC):c.405+13G>A	noncoding	Benign/Likely_benign
1	161357139	C	G	C161357139G	SDHC	NM_003001.5(SDHC):c.405+299C>G	noncoding	Benign
1	161357150	C	T	C161357150T	SDHC	NM_003001.5(SDHC):c.405+310C>T	noncoding	Benign
1	161509955	A	G	A161509955G	FCGR2A	NM_001136219.3(FCGR2A):c.500A>G:p.His167Arg	coding	Benign
1	161525250	C	T	C161525250T	HSPA6	NM_002155.5(HSPA6):c.592C>T:p.Leu198Phe	coding	Benign
1	161766367	G	T	G161766367T	ATF6	NM_007348.4(ATF6):c.7G>T:p.Glu3Ter	coding	Pathogenic
1	161766419	T	C	T161766419C	ATF6	NM_007348.4(ATF6):c.59T>C:p.Phe20Ser	coding	Benign
1	161778225	T	C	T161778225C	ATF6	NM_007348.4(ATF6):c.83-19T>C	noncoding	Benign
1	161778266	C	T	C161778266T	ATF6	NM_007348.4(ATF6):c.105C>T:p.Leu35=	coding	Benign
1	161778334	A	G	A161778334G	ATF6	NM_007348.4(ATF6):c.159+14A>G	noncoding	Benign
1	161784012	T	C	T161784012C	ATF6	NM_007348.4(ATF6):c.270T>C:p.Pro90=	coding	Benign
1	161784051	G	A	G161784051A	ATF6	NM_007348.4(ATF6):c.309G>A:p.Ser103=	coding	Benign
1	161791438	A	G	A161791438G	ATF6	NM_007348.4(ATF6):c.385A>G:p.Met129Val	coding	Benign
1	161791486	G	C	G161791486C	ATF6	NM_007348.4(ATF6):c.433G>C:p.Ala145Pro	coding	Benign
1	161791522	C	T	C161791522T	ATF6	NM_007348.4(ATF6):c.469C>T:p.Pro157Ser	coding	Benign
1	161819835	C	G	C161819835G	ATF6	NM_007348.4(ATF6):c.1095+17C>G	noncoding	Benign
1	161851739	C	G	C161851739G	ATF6	NM_007348.4(ATF6):c.1337C>G:p.Ser446Ter	coding	Pathogenic
1	161853275	C	G	C161853275G	ATF6	NM_007348.4(ATF6):c.1485C>G:p.Thr495=	coding	Benign
1	161860227	A	G	A161860227G	ATF6	NM_007348.4(ATF6):c.1554A>G:p.Ser518=	coding	Benign
1	161863320	C	A	C161863320A	ATF6	NM_007348.4(ATF6):c.1719+8C>A	noncoding	Benign
1	161912399	G	A	G161912399A	ATF6	NM_007348.4(ATF6):c.1804+19G>A	noncoding	Benign
1	161958537	A	G	A161958537G	ATF6	NM_007348.4(ATF6):c.1896A>G:p.Ser632=	coding	Benign
1	162069604	G	T	G162069604T	NOS1AP	Single_allele	noncoding	Benign
1	162069905	C	T	C162069905T	NOS1AP	NM_014697.3(NOS1AP):c.-273C>T	noncoding	Benign
1	162070515	C	A	C162070515A	NOS1AP	NM_014697.3(NOS1AP):c.105+233C>A	noncoding	Benign
1	162154155	G	C	G162154155C	NOS1AP	NM_014697.3(NOS1AP):c.106-250G>C	noncoding	Benign
1	162287085	A	G	A162287085G	NOS1AP	NM_014697.3(NOS1AP):c.178-259A>G	noncoding	Benign
1	162287243	C	G	C162287243G	NOS1AP	NM_014697.3(NOS1AP):c.178-101C>G	noncoding	Benign
1	162287491	A	G	A162287491G	NOS1AP	NM_014697.3(NOS1AP):c.270+55A>G	noncoding	Benign
1	162287701	T	C	T162287701C	NOS1AP	NM_014697.3(NOS1AP):c.270+265T>C	noncoding	Benign
1	162332775	G	A	G162332775A	NOS1AP	NM_014697.3(NOS1AP):c.345-242G>A	noncoding	Benign
1	162332845	T	C	T162332845C	NOS1AP	NM_014697.3(NOS1AP):c.345-172T>C	noncoding	Benign
1	162332899	C	T	C162332899T	NOS1AP	NM_014697.3(NOS1AP):c.345-118C>T	noncoding	Benign
1	162333014	T	G	T162333014G	NOS1AP	NM_014697.3(NOS1AP):c.345-3T>G	noncoding	Pathogenic
1	162333072	C	A	C162333072A	NOS1AP	NM_014697.3(NOS1AP):c.400C>A:p.Arg134=	coding	Benign
1	162333100	G	A	G162333100A	NOS1AP	NM_014697.3(NOS1AP):c.428G>A:p.Cys143Tyr	coding	Pathogenic
1	162343595	T	A	T162343595A	NOS1AP	NM_014697.3(NOS1AP):c.454-240T>A	noncoding	Benign
1	162343728	A	G	A162343728G	NOS1AP	NM_014697.3(NOS1AP):c.454-107A>G	noncoding	Benign
1	162343807	T	C	T162343807C	NOS1AP	NM_014697.3(NOS1AP):c.454-28T>C	noncoding	Benign
1	162343945	C	T	C162343945T	NOS1AP	NM_014697.3(NOS1AP):c.564C>T:p.Ser188=	coding	Benign
1	162355480	G	A	G162355480A	NOS1AP	NM_014697.3(NOS1AP):c.762+127G>A	noncoding	Benign
1	162355579	G	A	G162355579A	NOS1AP	NM_014697.3(NOS1AP):c.762+226G>A	noncoding	Benign
1	162362731	T	A	T162362731A	NOS1AP	NM_014697.3(NOS1AP):c.940-2673T>A	noncoding	Benign
1	162365262	C	T	C162365262T	NOS1AP	NM_014697.3(NOS1AP):c.940-142C>T	coding	Benign
1	162365466	C	T	C162365466T	NOS1AP	NM_014697.3(NOS1AP):c.1002C>T:p.Arg334=	coding	Benign
1	162365634	T	C	T162365634C	NOS1AP	NM_014697.3(NOS1AP):c.1105+65T>C	noncoding	Benign
1	162365710	T	C	T162365710C	NOS1AP	NM_014697.3(NOS1AP):c.1105+141T>C	noncoding	Benign
1	162366749	A	G	A162366749G	NOS1AP	NM_014697.3(NOS1AP):c.1106-303A>G	noncoding	Benign
1	162367263	C	A	C162367263A	NOS1AP	NM_014697.3(NOS1AP):c.1317C>A:p.Thr439=	coding	Benign
1	162367296	C	T	C162367296T	NOS1AP	NM_014697.3(NOS1AP):c.1350C>T:p.Gly450_Gly451=	coding	Benign
1	162718831	A	G	A162718831G	DDR2	NM_006182.4(DDR2):c.-27-206A>G	noncoding	Benign
1	162753372	T	C	T162753372C	DDR2	NM_006182.4(DDR2):c.185+175T>C	noncoding	Benign
1	162755182	T	C	T162755182C	DDR2	NM_006182.4(DDR2):c.444T>C:p.Tyr148=	coding	Benign
1	162755865	A	C	A162755865C	DDR2	NM_006182.4(DDR2):c.671+96A>C	noncoding	Benign
1	162761614	C	T	C162761614T	DDR2	NM_006182.4(DDR2):c.1099+160C>T	noncoding	Benign
1	162767066	C	A	C162767066A	DDR2	NM_006182.4(DDR2):c.1163-163C>A	noncoding	Benign
1	162767451	A	G	A162767451G	DDR2	NM_006182.4(DDR2):c.1293+92A>G	noncoding	Benign
1	162767548	G	C	G162767548C	DDR2	NM_006182.4(DDR2):c.1293+189G>C	noncoding	Benign
1	162767575	G	A	G162767575A	DDR2	NM_006182.4(DDR2):c.1293+216G>A	noncoding	Benign
1	162770523	T	C	T162770523C	DDR2	NM_006182.4(DDR2):c.1504+11T>C	noncoding	Benign/Likely_benign
1	162772005	G	A	G162772005A	DDR2	NM_006182.4(DDR2):c.1505-19G>A	noncoding	Benign/Likely_benign
1	162772327	C	T	C162772327T	DDR2	NM_006182.4(DDR2):c.1728+80C>T	noncoding	Benign
1	162772390	T	C	T162772390C	DDR2	NM_006182.4(DDR2):c.1728+143T>C	noncoding	Benign
1	162773317	A	G	A162773317G	DDR2	NM_006182.4(DDR2):c.1729-152A>G	noncoding	Benign
1	162773452	A	G	A162773452G	DDR2	NM_006182.4(DDR2):c.1729-17A>G	noncoding	Benign
1	162776227	C	T	C162776227T	DDR2	NM_006182.4(DDR2):c.2140C>T:p.Arg714Ter	coding	Pathogenic
1	162778343	T	C	T162778343C	DDR2	NM_006182.4(DDR2):c.2284-237T>C	noncoding	Benign
1	162778357	G	A	G162778357A	DDR2	NM_006182.4(DDR2):c.2284-223G>A	noncoding	Benign
1	162778798	C	A	C162778798A	DDR2	NM_006182.4(DDR2):c.2433+69C>A	noncoding	Benign
1	162779971	T	C	T162779971C	DDR2	NM_006182.4(DDR2):c.2434-141T>C	noncoding	Benign
1	163336784	T	G	T163336784G	NUF2	NM_145697.3(NUF2):c.371T>G:p.Ile124Ser	coding	Pathogenic
1	164559874	G	T	G164559874T	PBX1	NM_002585.4(PBX1):c.52G>T:p.Gly18Ter	coding	Pathogenic
1	164559883	G	A	G164559883A	PBX1	NM_002585.4(PBX1):c.61G>A:p.Gly21Ser	coding	Benign
1	164799888	C	T	C164799888T	PBX1	NM_002585.4(PBX1):c.700C>T:p.Arg234Trp	coding	Pathogenic
1	164799902	T	G	T164799902G	PBX1	NM_002585.4(PBX1):c.701+13T>G	noncoding	Benign
1	164807630	G	T	G164807630T	PBX1	NM_002585.4(PBX1):c.790G>T:p.Glu264Ter	coding	Pathogenic
1	164812020	C	T	C164812020T	PBX1	NM_002585.4(PBX1):c.868C>T:p.Arg290Trp	coding	Pathogenic
1	164820207	A	G	A164820207G	PBX1	NM_002585.4(PBX1):c.1110+23A>G	noncoding	Benign
1	165203979	A	G	A165203979G	LMX1A	NM_177398.4(LMX1A):c.1050T>C:p.Asp350=	coding	Benign
1	165205722	C	T	C165205722T	LMX1A	NM_177398.4(LMX1A):c.988+142G>A	noncoding	Benign
1	165206137	G	A	G165206137A	LMX1A	NM_177398.4(LMX1A):c.818-103C>T	noncoding	Benign
1	165207933	T	C	T165207933C	LMX1A	NM_177398.4(LMX1A):c.817+130A>G	noncoding	Benign
1	165210637	C	A	C165210637A	LMX1A	NM_177398.4(LMX1A):c.747+62G>T	noncoding	Benign
1	165210852	T	A	T165210852A	LMX1A	NM_177398.4(LMX1A):c.670-76A>T	noncoding	Benign
1	165213509	G	A	G165213509A	LMX1A	NM_177398.4(LMX1A):c.669+132C>T	noncoding	Benign
1	165213534	C	T	C165213534T	LMX1A	NM_177398.4(LMX1A):c.669+107G>A	noncoding	Benign
1	165213688	G	A	G165213688A	LMX1A	NM_177398.4(LMX1A):c.622C>T:p.Arg208Ter	coding	Pathogenic
1	165213715	T	C	T165213715C	LMX1A	NM_177398.4(LMX1A):c.595A>G:p.Arg199Gly	coding	Pathogenic
1	165249296	A	G	A165249296G	LMX1A	NM_177398.4(LMX1A):c.496+112T>C	noncoding	Benign
1	165249397	C	G	C165249397G	LMX1A	NM_177398.4(LMX1A):c.496+11G>C	noncoding	Benign
1	165249442	C	T	C165249442T	LMX1A	NM_177398.4(LMX1A):c.462G>A:p.Leu154=	coding	Benign
1	165249555	G	A	G165249555A	LMX1A	NM_177398.4(LMX1A):c.349C>T:p.Leu117=	coding	Benign
1	165249742	A	T	A165249742T	LMX1A	NM_177398.4(LMX1A):c.264-102T>A	noncoding	Benign
1	165249792	A	G	A165249792G	LMX1A	NM_177398.4(LMX1A):c.264-152T>C	noncoding	Benign
1	165355765	G	A	G165355765A	LMX1A	NM_177398.4(LMX1A):c.-22-184C>T	noncoding	Benign
1	165728104	G	A	G165728104A	TMCO1	NM_019026.6(TMCO1):c.486C>T:p.Leu162=	coding	Benign
1	165751986	T	C	T165751986C	TMCO1	NM_019026.6(TMCO1):c.323+116A>G	noncoding	Benign
1	165752181	C	T	C165752181T	TMCO1	NM_019026.6(TMCO1):c.256-12G>A	noncoding	Benign/Likely_benign
1	165752252	A	T	A165752252T	TMCO1	NM_019026.6(TMCO1):c.256-83T>A	noncoding	Benign
1	165754489	T	C	T165754489C	TMCO1	NM_019026.6(TMCO1):c.209-215A>G	noncoding	Benign
1	165754533	A	G	A165754533G	TMCO1	NM_019026.6(TMCO1):c.209-259T>C	noncoding	Benign
1	165759546	G	A	G165759546A	TMCO1	NM_019026.6(TMCO1):c.187C>T:p.Arg63Ter	coding	Pathogenic
1	165768467	C	G	C165768467G	TMCO1	NM_019026.6(TMCO1):c.71-198G>C	noncoding	Benign
1	165768682	C	G	C165768682G	TMCO1	NM_019026.6(TMCO1):c.70G>C:p.Gly24Arg	coding	Pathogenic
1	165768841	C	T	C165768841T	TMCO1	NM_019026.6(TMCO1):c.-90G>A	coding	Benign
1	165769074	A	T	A165769074T	TMCO1	NR_125374.1(TMCO1-AS1):n.146A>T	noncoding	Benign
1	165769226	G	C	G165769226C	TMCO1	NR_125374.1(TMCO1-AS1):n.298G>C	noncoding	Benign
1	167431690	G	A	G167431690A	CD247	NM_198053.3(CD247):c.486C>T:p.Pro162=	coding	Benign
1	167431764	C	T	C167431764T	CD247	NM_198053.3(CD247):c.430-18G>A	noncoding	Benign
1	167432017	C	T	C167432017T	CD247	NM_198053.3(CD247):c.430-271G>A	noncoding	Benign
1	167432746	G	A	G167432746A	CD247	NM_198053.3(CD247):c.429+278C>T	noncoding	Benign
1	167433975	G	A	G167433975A	CD247	NM_198053.3(CD247):c.393+45C>T	noncoding	Benign
1	167434267	A	G	A167434267G	CD247	NM_198053.3(CD247):c.337-191T>C	noncoding	Benign
1	167434388	A	G	A167434388G	CD247	NM_198053.3(CD247):c.337-312T>C	noncoding	Benign
1	167435448	C	T	C167435448T	CD247	NM_198053.3(CD247):c.301-14G>A	noncoding	Benign
1	167438280	A	G	A167438280G	CD247	NM_198053.3(CD247):c.300+290T>C	noncoding	Benign
1	167438449	T	C	T167438449C	CD247	NM_198053.3(CD247):c.300+121A>G	noncoding	Benign
1	167438545	C	T	C167438545T	CD247	NM_198053.3(CD247):c.300+25G>A	noncoding	Benign
1	167438635	G	A	G167438635A	CD247	NM_198053.3(CD247):c.235C>T:p.Arg79Ter	coding	Pathogenic
1	167438836	C	A	C167438836A	CD247	NM_198053.3(CD247):c.220-186G>T	noncoding	Benign
1	167439069	T	C	T167439069C	CD247	NM_198053.3(CD247):c.219+275A>G	noncoding	Benign
1	167439328	G	T	G167439328T	CD247	NM_198053.3(CD247):c.219+16C>A	noncoding	Benign
1	167439433	C	T	C167439433T	CD247	NM_198053.3(CD247):c.163-33G>A	noncoding	Benign
1	167439637	A	G	A167439637G	CD247	NM_198053.3(CD247):c.163-237T>C	noncoding	Benign
1	167440966	C	T	C167440966T	CD247	NM_198053.3(CD247):c.59-199G>A	noncoding	Benign
1	167518250	G	A	G167518250A	CD247	NM_198053.3(CD247):c.58+158C>T	noncoding	Benign
1	167518349	C	G	C167518349G	CD247	NM_198053.3(CD247):c.58+59G>C	noncoding	Benign
1	167518643	C	T	C167518643T	CD247	Single_allele	noncoding	Benign
1	167518762	T	A	T167518762A	CD247	Single_allele	noncoding	Benign
1	167809468	A	C	A167809468C	ADCY10	NM_018417.6(ADCY10):c.*210T>G	noncoding	Benign
1	167809606	G	A	G167809606A	ADCY10	NM_018417.6(ADCY10):c.*72C>T	noncoding	Benign
1	167809790	G	A	G167809790A	ADCY10	NM_018417.6(ADCY10):c.4721C>T:p.Thr1574Met	coding	Benign
1	167810628	A	C	A167810628C	ADCY10	NM_018417.6(ADCY10):c.4671+97T>G	noncoding	Benign
1	167810834	C	T	C167810834T	ADCY10	NM_018417.6(ADCY10):c.4562G>A:p.Cys1521Tyr	coding	Benign
1	167817794	A	G	A167817794G	ADCY10	NM_018417.6(ADCY10):c.4482+278T>C	noncoding	Benign
1	167818027	C	T	C167818027T	ADCY10	NM_018417.6(ADCY10):c.4482+45G>A	noncoding	Benign
1	167818116	C	A	C167818116A	ADCY10	NM_018417.6(ADCY10):c.4438G>T:p.Glu1480Ter	coding	Pathogenic
1	167822812	C	T	C167822812T	ADCY10	NM_018417.6(ADCY10):c.4168+196G>A	noncoding	Benign
1	167822841	G	T	G167822841T	ADCY10	NM_018417.6(ADCY10):c.4168+167C>A	noncoding	Benign
1	167823118	G	A	G167823118A	ADCY10	NM_018417.6(ADCY10):c.4058C>T:p.Pro1353Leu	coding	Benign/Likely_benign
1	167824239	T	C	T167824239C	ADCY10	NM_018417.6(ADCY10):c.4052+237A>G	noncoding	Benign
1	167824267	G	A	G167824267A	ADCY10	NM_018417.6(ADCY10):c.4052+209C>T	noncoding	Benign
1	167824432	C	T	C167824432T	ADCY10	NM_018417.6(ADCY10):c.4052+44G>A	noncoding	Benign
1	167824892	G	A	G167824892A	ADCY10	NM_018417.6(ADCY10):c.3751-37C>T	noncoding	Benign
1	167829104	G	A	G167829104A	ADCY10	NM_018417.6(ADCY10):c.3750+163C>T	noncoding	Benign
1	167829153	G	A	G167829153A	ADCY10	NM_018417.6(ADCY10):c.3750+114C>T	noncoding	Benign
1	167832830	A	G	A167832830G	ADCY10	NM_018417.6(ADCY10):c.3593+157T>C	noncoding	Benign
1	167833015	G	T	G167833015T	ADCY10	NM_018417.6(ADCY10):c.3565C>A:p.Arg1189=	coding	Benign
1	167833092	C	A	C167833092A	ADCY10	NM_018417.6(ADCY10):c.3488G>T:p.Arg1163Leu	coding	Benign
1	167833718	C	T	C167833718T	ADCY10	NM_018417.6(ADCY10):c.3417+252G>A	noncoding	Benign
1	167834111	T	A	T167834111A	ADCY10	NM_018417.6(ADCY10):c.3310-34A>T	noncoding	Benign
1	167834194	C	T	C167834194T	ADCY10	NM_018417.6(ADCY10):c.3310-117G>A	noncoding	Benign
1	167836201	G	A	G167836201A	ADCY10	NM_018417.6(ADCY10):c.3309+108C>T	noncoding	Benign
1	167836575	T	C	T167836575C	ADCY10	NM_018417.6(ADCY10):c.3078-35A>G	noncoding	Benign
1	167836627	C	T	C167836627T	ADCY10	NM_018417.6(ADCY10):c.3078-87G>A	noncoding	Benign
1	167837056	T	C	T167837056C	ADCY10	NM_018417.6(ADCY10):c.3077+193A>G	noncoding	Benign
1	167837404	C	G	C167837404G	ADCY10	NM_018417.6(ADCY10):c.3008-86G>C	noncoding	Benign
1	167837409	T	A	T167837409A	ADCY10	NM_018417.6(ADCY10):c.3008-91A>T	noncoding	Benign
1	167837458	T	C	T167837458C	ADCY10	NM_018417.6(ADCY10):c.3008-140A>G	noncoding	Benign
1	167837476	G	A	G167837476A	ADCY10	NM_018417.6(ADCY10):c.3008-158C>T	noncoding	Benign
1	167845367	T	C	T167845367C	ADCY10	NM_018417.6(ADCY10):c.3007+196A>G	noncoding	Benign
1	167845495	T	G	T167845495G	ADCY10	NM_018417.6(ADCY10):c.3007+68A>C	noncoding	Benign
1	167845792	A	G	A167845792G	ADCY10	NM_018417.6(ADCY10):c.2778T>C:p.Ile926=	coding	Benign
1	167845929	T	C	T167845929C	ADCY10	NM_018417.6(ADCY10):c.2716+56A>G	noncoding	Benign
1	167846276	G	A	G167846276A	ADCY10	NM_018417.6(ADCY10):c.2438-13C>T	noncoding	Benign
1	167846283	C	A	C167846283A	ADCY10	NM_018417.6(ADCY10):c.2438-20G>T	noncoding	Benign
1	167846372	C	A	C167846372A	ADCY10	NM_018417.6(ADCY10):c.2438-109G>T	noncoding	Benign
1	167846578	T	G	T167846578G	ADCY10	NM_018417.6(ADCY10):c.2438-315A>C	noncoding	Benign
1	167848401	A	G	A167848401G	ADCY10	NM_018417.6(ADCY10):c.2397T>C:p.Gly799=	coding	Benign
1	167854217	A	G	A167854217G	ADCY10	NM_018417.6(ADCY10):c.2308+136T>C	noncoding	Benign
1	167854267	G	A	G167854267A	ADCY10	NM_018417.6(ADCY10):c.2308+86C>T	noncoding	Benign
1	167854274	T	C	T167854274C	ADCY10	NM_018417.6(ADCY10):c.2308+79A>G	noncoding	Benign
1	167854342	G	A	G167854342A	ADCY10	NM_018417.6(ADCY10):c.2308+11C>T	noncoding	Benign
1	167854342	G	T	G167854342T	ADCY10	NM_018417.6(ADCY10):c.2308+11C>A	noncoding	Benign
1	167854790	T	A	T167854790A	ADCY10	NM_018417.6(ADCY10):c.2172-301A>T	noncoding	Benign
1	167855878	C	G	C167855878G	ADCY10	NM_018417.6(ADCY10):c.2171+287G>C	noncoding	Benign
1	167855896	A	G	A167855896G	ADCY10	NM_018417.6(ADCY10):c.2171+269T>C	noncoding	Benign
1	167856211	T	C	T167856211C	ADCY10	NM_018417.6(ADCY10):c.2125A>G:p.Ile709Val	coding	Benign/Likely_benign
1	167856247	T	C	T167856247C	ADCY10	NM_018417.6(ADCY10):c.2089A>G:p.Ile697Val	coding	Benign
1	167856368	A	G	A167856368G	ADCY10	NM_018417.6(ADCY10):c.1968T>C:p.Phe656=	coding	Benign
1	167856480	C	T	C167856480T	ADCY10	NM_018417.6(ADCY10):c.1897-41G>A	noncoding	Benign
1	167859878	C	A	C167859878A	ADCY10	NM_018417.6(ADCY10):c.1825G>T:p.Glu609Ter	coding	Pathogenic
1	167860617	T	C	T167860617C	ADCY10	NM_018417.6(ADCY10):c.1809+254A>G	noncoding	Benign
1	167860768	G	C	G167860768C	ADCY10	NM_018417.6(ADCY10):c.1809+103C>G	noncoding	Benign
1	167861012	G	A	G167861012A	ADCY10	NM_018417.6(ADCY10):c.1668C>T:p.Thr556=	coding	Benign
1	167861230	T	G	T167861230G	ADCY10	NM_018417.6(ADCY10):c.1617-167A>C	noncoding	Benign
1	167869972	A	C	A167869972C	ADCY10	NM_018417.6(ADCY10):c.1616+285T>G	noncoding	Benign
1	167870182	A	G	A167870182G	ADCY10	NM_018417.6(ADCY10):c.1616+75T>C	noncoding	Benign
1	167870340	G	A	G167870340A	ADCY10	NM_018417.6(ADCY10):c.1533C>T:p.Val511=	coding	Benign
1	167870441	C	T	C167870441T	ADCY10	NM_018417.6(ADCY10):c.1463-31G>A	noncoding	Benign
1	167874866	C	T	C167874866T	ADCY10	NM_018417.6(ADCY10):c.1462+265G>A	noncoding	Benign
1	167875315	C	A	C167875315A	ADCY10	NM_018417.6(ADCY10):c.1407-129G>T	noncoding	Benign
1	167875321	G	A	G167875321A	ADCY10	NM_018417.6(ADCY10):c.1407-135C>T	noncoding	Benign
1	167875344	C	G	C167875344G	ADCY10	NM_018417.6(ADCY10):c.1407-158G>C	noncoding	Benign
1	167878282	T	C	T167878282C	ADCY10	NM_018417.6(ADCY10):c.1406+164A>G	noncoding	Benign
1	167878346	T	C	T167878346C	ADCY10	NM_018417.6(ADCY10):c.1406+100A>G	noncoding	Benign
1	167878372	G	A	G167878372A	ADCY10	NM_018417.6(ADCY10):c.1406+74C>T	noncoding	Benign
1	167878410	C	T	C167878410T	ADCY10	NM_018417.6(ADCY10):c.1406+36G>A	noncoding	Benign
1	167878592	G	A	G167878592A	ADCY10	NM_018417.6(ADCY10):c.1260C>T:p.Tyr420=	coding	Benign
1	167878717	A	G	A167878717G	ADCY10	NM_018417.6(ADCY10):c.1217-82T>C	noncoding	Benign
1	167878746	T	C	T167878746C	ADCY10	NM_018417.6(ADCY10):c.1217-111A>G	noncoding	Benign
1	167878759	C	A	C167878759A	ADCY10	NM_018417.6(ADCY10):c.1217-124G>T	noncoding	Benign
1	167880080	A	G	A167880080G	ADCY10	NM_018417.6(ADCY10):c.1216+35T>C	noncoding	Benign
1	167880089	G	A	G167880089A	ADCY10	NM_018417.6(ADCY10):c.1216+26C>T	noncoding	Benign
1	167880176	A	G	A167880176G	ADCY10	NM_018417.6(ADCY10):c.1155T>C:p.Gly385=	coding	Benign
1	167880420	C	G	C167880420G	ADCY10	NM_018417.6(ADCY10):c.1139+71G>C	noncoding	Benign
1	167880463	G	A	G167880463A	ADCY10	NM_018417.6(ADCY10):c.1139+28C>T	noncoding	Benign
1	167880620	G	A	G167880620A	ADCY10	NM_018417.6(ADCY10):c.1021-11C>T	noncoding	Benign
1	167883417	A	T	A167883417T	ADCY10	NM_018417.6(ADCY10):c.1020+20T>A	noncoding	Benign
1	167896502	G	A	G167896502A	ADCY10	NM_018417.6(ADCY10):c.739+93C>T	noncoding	Benign
1	167896633	G	A	G167896633A	ADCY10	NM_018417.6(ADCY10):c.701C>T:p.Thr234Met	coding	Benign
1	167899484	C	T	C167899484T	ADCY10	NM_018417.6(ADCY10):c.581G>A:p.Trp194Ter	coding	Pathogenic
1	167901491	T	C	T167901491C	ADCY10	NM_018417.6(ADCY10):c.436+171A>G	noncoding	Benign
1	167901567	C	T	C167901567T	ADCY10	NM_018417.6(ADCY10):c.436+95G>A	noncoding	Benign
1	167903644	G	C	G167903644C	ADCY10	NM_018417.6(ADCY10):c.253+243C>G	noncoding	Benign
1	167904118	T	C	T167904118C	ADCY10	NM_018417.6(ADCY10):c.149-127A>G	noncoding	Benign
1	167904764	G	C	G167904764C	ADCY10	NM_018417.6(ADCY10):c.148+229C>G	noncoding	Benign
1	168136258	T	A	T168136258A	GPR161	NM_001375883.1(GPR161):c.-45+481A>T	coding	Benign/Likely_benign
1	168291325	C	T	C168291325T	TBX19	NM_005149.3(TBX19):c.369C>T:p.Tyr123=	coding	Benign
1	168297786	G	T	G168297786T	TBX19	NM_005149.3(TBX19):c.665+1G>T	coding	Pathogenic
1	168304963	G	A	G168304963A	TBX19	NM_005149.3(TBX19):c.728-45G>A	noncoding	Benign
1	169127363	G	A	G169127363A	ATP1B1	NM_001677.4(ATP1B1):c.522G>A:p.Pro174=	coding	Benign
1	169469945	A	G	A169469945G	SLC19A2	NM_006996.3(SLC19A2):c.1030+19T>C	noncoding	Benign/Likely_benign
1	169477265	G	A	G169477265A	SLC19A2	NM_006996.3(SLC19A2):c.697C>T:p.Gln233Ter	coding	Pathogenic
1	169515314	T	G	T169515314G	F5	NM_000130.5(F5):c.6528+130A>C	noncoding	Benign
1	169519689	C	T	C169519689T	F5	NM_000130.5(F5):c.6193+831G>A	noncoding	Benign
1	169520274	A	G	A169520274G	F5	NM_000130.5(F5):c.6193+246T>C	noncoding	Benign
1	169520347	T	C	T169520347C	F5	NM_000130.5(F5):c.6193+173A>G	noncoding	Benign
1	169520708	A	G	A169520708G	F5	NM_000130.5(F5):c.6049-44T>C	noncoding	Benign
1	169523438	C	T	C169523438T	F5	NM_000130.5(F5):c.5893-86G>A	noncoding	Benign
1	169524657	A	G	A169524657G	F5	NM_000130.5(F5):c.5788+180T>C	noncoding	Benign
1	169524715	A	C	A169524715C	F5	NM_000130.5(F5):c.5788+122T>G	noncoding	Benign
1	169524958	C	T	C169524958T	F5	NM_000130.5(F5):c.5717-50G>A	noncoding	Benign
1	169525165	T	C	T169525165C	F5	NM_000130.5(F5):c.5717-257A>G	noncoding	Benign
1	169526195	T	C	T169526195C	F5	NM_000130.5(F5):c.5600-178A>G	noncoding	Benign
1	169529952	A	G	A169529952G	F5	NM_000130.5(F5):c.5209-134T>C	noncoding	Benign
1	169530713	C	T	C169530713T	F5	NM_000130.5(F5):c.5208+73G>A	noncoding	Benign
1	169531110	G	A	G169531110A	F5	NM_000130.5(F5):c.4972-88C>T	noncoding	Benign
1	169531243	G	A	G169531243A	F5	NM_000130.5(F5):c.4972-221C>T	noncoding	Benign
1	169531352	C	A	C169531352A	F5	NM_000130.5(F5):c.4972-330G>T	noncoding	Benign
1	169540245	T	G	T169540245G	F5	NM_000130.5(F5):c.4796+49A>C	noncoding	Benign
1	169543058	T	C	T169543058C	F5	NM_000130.5(F5):c.2032A>G:p.Lys678Glu	coding	Benign
1	169543259	C	A	C169543259A	F5	NM_000130.5(F5):c.1976-145G>T	noncoding	Benign
1	169543286	C	T	C169543286T	F5	NM_000130.5(F5):c.1976-172G>A	noncoding	Benign
1	169543324	T	C	T169543324C	F5	NM_000130.5(F5):c.1976-210A>G	noncoding	Benign
1	169543356	G	A	G169543356A	F5	NM_000130.5(F5):c.1976-242C>T	noncoding	Benign
1	169543405	A	C	A169543405C	F5	NM_000130.5(F5):c.1976-291T>G	noncoding	Benign
1	169543413	G	A	G169543413A	F5	NM_000130.5(F5):c.1976-299C>T	noncoding	Benign
1	169544198	C	A	C169544198A	F5	NM_000130.5(F5):c.1975+98G>T	noncoding	Benign
1	169544768	A	G	A169544768G	F5	NM_000130.5(F5):c.1763-260T>C	noncoding	Benign
1	169546143	T	C	T169546143C	F5	NM_000130.5(F5):c.1762+299A>G	noncoding	Benign
1	169546298	C	T	C169546298T	F5	NM_000130.5(F5):c.1762+144G>A	noncoding	Benign
1	169549537	A	G	A169549537G	F5	NM_000130.5(F5):c.1611+264T>C	noncoding	Benign
1	169549812	G	A	G169549812A	F5	NM_000130.5(F5):c.1600C>T:p.Arg534Ter	coding	Pathogenic
1	169550066	A	G	A169550066G	F5	NM_000130.5(F5):c.1397-51T>C	noncoding	Benign
1	169550433	T	C	T169550433C	F5	NM_000130.5(F5):c.1396+207A>G	noncoding	Benign
1	169550527	A	G	A169550527G	F5	NM_000130.5(F5):c.1396+113T>C	noncoding	Benign
1	169550860	A	G	A169550860G	F5	NM_000130.5(F5):c.1297-121T>C	noncoding	Benign
1	169552313	C	G	C169552313G	F5	NM_000130.5(F5):c.1296+244G>C	noncoding	Benign
1	169552315	G	A	G169552315A	F5	NM_000130.5(F5):c.1296+242C>T	noncoding	Benign
1	169552495	C	T	C169552495T	F5	NM_000130.5(F5):c.1296+62G>A	noncoding	Benign
1	169552611	T	C	T169552611C	F5	NM_000130.5(F5):c.1242A>G:p.Lys414=	coding	Benign/Likely_benign
1	169555602	G	A	G169555602A	F5	NM_000130.5(F5):c.953-255C>T	noncoding	Benign
1	169556528	T	C	T169556528C	F5	NM_000130.5(F5):c.952+118A>G	noncoding	Benign
1	169556570	G	A	G169556570A	F5	NM_000130.5(F5):c.952+76C>T	noncoding	Benign
1	169557062	C	T	C169557062T	F5	NM_000130.5(F5):c.731-195G>A	noncoding	Benign
1	169557129	A	G	A169557129G	F5	NM_000130.5(F5):c.731-262T>C	noncoding	Benign
1	169557187	G	T	G169557187T	F5	NM_000130.5(F5):c.731-320C>A	noncoding	Benign
1	169558837	C	G	C169558837G	F5	NM_000130.5(F5):c.730+316G>C	noncoding	Benign
1	169558942	C	A	C169558942A	F5	NM_000130.5(F5):c.730+211G>T	noncoding	Benign
1	169559342	C	T	C169559342T	F5	NM_000130.5(F5):c.587-46G>A	noncoding	Benign
1	169559484	C	T	C169559484T	F5	NM_000130.5(F5):c.587-188G>A	noncoding	Benign
1	169559592	C	T	C169559592T	F5	NM_000130.5(F5):c.587-296G>A	noncoding	Benign
1	169560517	A	G	A169560517G	F5	NM_000130.5(F5):c.586+37T>C	noncoding	Benign
1	169560832	A	C	A169560832C	F5	NM_000130.5(F5):c.374-66T>G	noncoding	Benign
1	169560839	G	T	G169560839T	F5	NM_000130.5(F5):c.374-73C>A	noncoding	Benign
1	169560855	T	C	T169560855C	F5	NM_000130.5(F5):c.374-89A>G	noncoding	Benign
1	169560938	C	G	C169560938G	F5	NM_000130.5(F5):c.374-172G>C	noncoding	Benign
1	169572602	G	A	G169572602A	F5	NM_000130.5(F5):c.251-259C>T	noncoding	Benign
1	169582202	G	A	G169582202A	F5	NM_000130.5(F5):c.250+229C>T	noncoding	Benign
1	169582327	C	T	C169582327T	F5	NM_000130.5(F5):c.250+104G>A	noncoding	Benign
1	169582628	C	T	C169582628T	F5	NM_000130.5(F5):c.159-106G>A	noncoding	Benign
1	169585992	T	C	T169585992C	F5	NM_000130.5(F5):c.158+237A>G	noncoding	Benign
1	169586581	C	T	C169586581T	F5	Single_allele	noncoding	Benign
1	169586735	G	C	G169586735C	F5	Single_allele	noncoding	Benign
1	169586807	C	G	C169586807G	F5	Single_allele	noncoding	Benign
1	169586812	C	T	C169586812T	F5	Single_allele	noncoding	Benign
1	169726729	G	A	G169726729A	SELE	NM_000450.2(SELE):c.1723C>T:p.Leu575Phe	coding	Benign
1	169733137	A	G	A169733137G	SELE	NM_000450.2(SELE):c.38-139T>C	noncoding	Benign
1	170532026	T	C	T170532026C	GORAB	Single_allele	noncoding	Benign
1	170532244	A	C	A170532244C	GORAB	NM_152281.3(GORAB):c.21A>C:p.Gly7=	coding	Benign
1	170532301	A	C	A170532301C	GORAB	NM_152281.3(GORAB):c.61+17A>C	noncoding	Benign
1	170532315	C	T	C170532315T	GORAB	NM_152281.3(GORAB):c.61+31C>T	noncoding	Benign
1	170532434	A	G	A170532434G	GORAB	NM_152281.3(GORAB):c.61+150A>G	noncoding	Benign
1	170539227	C	T	C170539227T	GORAB	NM_152281.3(GORAB):c.79C>T:p.Arg27Ter	coding	Pathogenic
1	170539251	C	T	C170539251T	GORAB	NM_152281.3(GORAB):c.103C>T:p.Arg35Ter	coding	Pathogenic
1	170542463	T	C	T170542463C	GORAB	NM_152281.3(GORAB):c.420-28T>C	noncoding	Benign
1	170542785	T	C	T170542785C	GORAB	NM_152281.3(GORAB):c.521+193T>C	noncoding	Benign
1	170544891	A	G	A170544891G	GORAB	NM_152281.3(GORAB):c.662+46A>G	coding	Benign
1	170552003	A	G	A170552003G	GORAB	NM_152281.3(GORAB):c.663-12A>G	noncoding	Benign/Likely_benign
1	171092780	G	A	G171092780A	FMO3	NM_001002294.3(FMO3):c.122G>A:p.Trp41Ter	coding	Pathogenic
1	171107723	C	T	C171107723T	FMO3	NM_001002294.3(FMO3):c.370C>T:p.Gln124Ter	coding	Pathogenic
1	171108216	G	T	G171108216T	FMO3	NM_001002294.3(FMO3):c.622G>T:p.Glu208Ter	coding	Pathogenic
1	171635941	T	C	T171635941C	MYOC	NM_000261.2(MYOC):c.1499A>G:p.Lys500Arg	coding	Benign
1	171636301	T	G	T171636301G	MYOC	NM_000261.2(MYOC):c.1139A>C:p.Asp380Ala	coding	Pathogenic
1	171636310	G	A	G171636310A	MYOC	NM_000261.2(MYOC):c.1130C>T:p.Thr377Met	coding	Pathogenic
1	171636419	A	G	A171636419G	MYOC	NM_000261.2(MYOC):c.1021T>C:p.Ser341Pro	coding	Pathogenic
1	171636585	C	A	C171636585A	MYOC	NM_000261.2(MYOC):c.855G>T:p.Thr285=	coding	Benign
1	171636914	T	G	T171636914G	MYOC	NM_000261.2(MYOC):c.731-205A>C	noncoding	Benign
1	171638562	C	T	C171638562T	MYOC	NM_000261.2(MYOC):c.730+35G>A	noncoding	Benign
1	171651694	A	G	A171651694G	MYOC	NM_000261.2(MYOC):c.604+314T>C	noncoding	Benign
1	171651780	T	A	T171651780A	MYOC	NM_000261.2(MYOC):c.604+228A>T	noncoding	Benign
1	171651958	C	T	C171651958T	MYOC	NM_000261.2(MYOC):c.604+50G>A	noncoding	Benign
1	171651995	T	G	T171651995G	MYOC	NM_000261.2(MYOC):c.604+13A>C	noncoding	Benign
1	171652385	C	T	C171652385T	MYOC	NM_000261.2(MYOC):c.227G>A:p.Arg76Lys	coding	Benign
1	171652694	C	T	C171652694T	MYOC	Single_allele	noncoding	Benign
1	171652835	A	G	A171652835G	MYOC	Single_allele	noncoding	Benign
1	171652917	C	T	C171652917T	MYOC	Single_allele	noncoding	Benign
1	172441827	G	A	G172441827A	PIGC	NM_153747.2(PIGC):c.796C>T:p.Pro266Ser	coding	Benign
1	172441947	G	A	G172441947A	PIGC	NM_153747.2(PIGC):c.676C>T:p.Arg226Trp	coding	Benign/Likely_benign
1	172533477	C	T	C172533477T	SUCO	NM_014283.5(SUCO):c.42C>T:p.Leu14=	coding	Benign
1	172551552	G	A	G172551552A	SUCO	NM_014283.5(SUCO):c.103G>A:p.Ala35Thr	coding	Benign
1	172556018	G	A	G172556018A	SUCO	NM_014283.5(SUCO):c.438G>A:p.Lys146=	coding	Benign
1	172578307	C	T	C172578307T	SUCO	NM_014283.5(SUCO):c.1350C>T:p.Gly450=	coding	Benign
1	172578319	G	T	G172578319T	SUCO	NM_014283.5(SUCO):c.1362G>T:p.Val454=	coding	Benign
1	172578325	A	G	A172578325G	SUCO	NM_014283.5(SUCO):c.1368A>G:p.Glu456=	coding	Benign
1	172578382	G	A	G172578382A	SUCO	NM_014283.5(SUCO):c.1425G>A:p.Glu475=	coding	Benign
1	172589384	A	G	A172589384G	SUCO	NM_014283.5(SUCO):c.2283A>G:p.Pro761=	coding	Benign
1	172589454	A	G	A172589454G	SUCO	NM_014283.5(SUCO):c.2353A>G:p.Ser785Gly	coding	Benign
1	172608732	T	G	T172608732G	SUCO	NM_014283.5(SUCO):c.3266-15T>G	noncoding	Benign
1	172610097	T	G	T172610097G	SUCO	NM_014283.5(SUCO):c.3603T>G:p.Ala1201=	coding	Benign
1	172658358	C	T	C172658358T	FASLG	NC_000001.10:g.172627498C>T	noncoding	Benign
1	172658997	C	G	C172658997G	FASLG	Single_allele	noncoding	Benign
1	172659460	T	C	T172659460C	FASLG	NM_000639.3(FASLG):c.259T>C:p.Phe87Leu	coding	Benign
1	172659544	C	T	C172659544T	FASLG	NM_000639.3(FASLG):c.343C>T:p.Arg115Ter	coding	Pathogenic
1	172659757	A	G	A172659757G	FASLG	NM_000639.3(FASLG):c.348+208A>G	noncoding	Benign
1	172664210	A	G	A172664210G	FASLG	NM_000639.3(FASLG):c.395-124A>G	noncoding	Benign
1	172665594	T	C	T172665594C	FASLG	NM_000639.3(FASLG):c.452-28T>C	noncoding	Benign
1	173825235	C	G	C173825235G	DARS2	NM_018122.5(DARS2):c.6C>G:p.Tyr2Ter	coding	Pathogenic
1	173826682	T	A	T173826682A	DARS2	NM_018122.5(DARS2):c.128-5T>A	noncoding	Benign/Likely_benign
1	173826686	G	T	G173826686T	DARS2	NM_018122.5(DARS2):c.128-1G>T	noncoding	Pathogenic
1	173826731	C	G	C173826731G	DARS2	NM_018122.5(DARS2):c.172C>G:p.Arg58Gly	coding	Pathogenic
1	173826814	G	T	G173826814T	DARS2	NM_018122.5(DARS2):c.227+28G>T	noncoding	Benign
1	173826815	C	T	C173826815T	DARS2	NM_018122.5(DARS2):c.227+29C>T	noncoding	Benign
1	173828318	C	A	C173828318A	DARS2	NM_018122.5(DARS2):c.228-15C>A	noncoding	Pathogenic
1	173833070	C	T	C173833070T	DARS2	NM_018122.5(DARS2):c.493-306C>T	noncoding	Benign
1	173833445	C	T	C173833445T	DARS2	NM_018122.5(DARS2):c.562C>T:p.Arg188Ter	coding	Pathogenic
1	173837018	C	T	C173837018T	DARS2	NM_018122.5(DARS2):c.742C>T:p.Gln248Ter	coding	Pathogenic
1	173837036	G	A	G173837036A	DARS2	NM_018122.5(DARS2):c.760G>A:p.Gly254Ser	coding	Pathogenic
1	173840818	A	G	A173840818G	DARS2	NM_018122.5(DARS2):c.1021-48A>G	noncoding	Benign
1	173853456	C	G	C173853456G	DARS2	NM_018122.5(DARS2):c.1452C>G:p.Phe484Leu	coding	Pathogenic
1	173856781	T	C	T173856781C	DARS2	NM_018122.5(DARS2):c.1750+40T>C	noncoding	Benign
1	173904067	T	C	T173904067C	SERPINC1	NM_000488.4(SERPINC1):c.1219-2A>G	noncoding	Pathogenic
1	173907423	C	G	C173907423G	SERPINC1	NM_000488.4(SERPINC1):c.1218+27G>C	noncoding	Benign
1	173907478	G	C	G173907478C	SERPINC1	NM_000488.4(SERPINC1):c.1190C>G:p.Ser397Ter	coding	Pathogenic
1	173907511	A	G	A173907511G	SERPINC1	NM_000488.4(SERPINC1):c.1157T>C:p.Ile386Thr	coding	Pathogenic/Likely_pathogenic
1	173907567	C	T	C173907567T	SERPINC1	NM_000488.4(SERPINC1):c.1154-53G>A	noncoding	Benign
1	173909333	A	G	A173909333G	SERPINC1	NM_000488.4(SERPINC1):c.1153+219T>C	noncoding	Benign
1	173909689	C	T	C173909689T	SERPINC1	NM_000488.4(SERPINC1):c.1016G>A:p.Trp339Ter	coding	Pathogenic
1	173909958	A	G	A173909958G	SERPINC1	NM_000488.4(SERPINC1):c.763-16T>C	noncoding	Benign
1	173910831	G	A	G173910831A	SERPINC1	NM_000488.4(SERPINC1):c.685C>T:p.Arg229Ter	coding	Pathogenic/Likely_pathogenic
1	173910861	T	C	T173910861C	SERPINC1	NM_000488.4(SERPINC1):c.655A>G:p.Asn219Asp	coding	Pathogenic/Likely_pathogenic
1	173911614	C	A	C173911614A	SERPINC1	NM_000488.4(SERPINC1):c.624+185G>T	noncoding	Benign
1	173911816	G	A	G173911816A	SERPINC1	NM_000488.4(SERPINC1):c.607C>T:p.Gln203Ter	coding	Pathogenic
1	173911984	T	C	T173911984C	SERPINC1	NM_000488.4(SERPINC1):c.439A>G:p.Thr147Ala	coding	Benign
1	173911987	T	C	T173911987C	SERPINC1	NM_000488.4(SERPINC1):c.436A>G:p.Lys146Glu	coding	Pathogenic
1	173914379	A	T	A173914379T	SERPINC1	NM_000488.4(SERPINC1):c.408+174T>A	noncoding	Benign
1	173914580	A	T	A173914580T	SERPINC1	NM_000488.4(SERPINC1):c.381T>A:p.Cys127Ter	coding	Pathogenic
1	173914937	G	A	G173914937A	SERPINC1	NM_000488.4(SERPINC1):c.42-18C>T	noncoding	Benign
1	173917078	C	T	C173917078T	SERPINC1	NM_000488.4(SERPINC1):c.41+141G>A	noncoding	Benign
1	173917607	A	G	A173917607G	SERPINC1	Single_allele	noncoding	Benign
1	173917610	C	T	C173917610T	SERPINC1	Single_allele	noncoding	Benign
1	173917611	A	G	A173917611G	SERPINC1	Single_allele	noncoding	Benign
1	175014705	A	G	A175014705G	MRPS14	NM_022100.3(MRPS14):c.351T>C:p.His117=	coding	Benign/Likely_benign
1	175324397	T	G	T175324397G	TNR	NM_003285.3(TNR):c.3916A>C:p.Thr1306Pro	coding	Pathogenic
1	175386016	C	T	C175386016T	TNR	NM_003285.3(TNR):c.1777+16G>A	noncoding	Benign
1	175386255	A	G	A175386255G	TNR	NM_003285.3(TNR):c.1554T>C:p.Thr518=	coding	Benign
1	175396527	G	A	G175396527A	TNR	NM_003285.3(TNR):c.1240+17C>T	noncoding	Benign
1	176595336	C	T	C176595336T	PAPPA2	NM_020318.3(PAPPA2):c.1732C>T:p.Arg578Ter	coding	Pathogenic
1	176695769	G	T	G176695769T	PAPPA2	NM_020318.3(PAPPA2):c.2656G>T:p.Glu886Ter	coding	Pathogenic
1	176699451	C	T	C176699451T	PAPPA2	NM_020318.3(PAPPA2):c.3098C>T:p.Ala1033Val	coding	Pathogenic
1	179103593	T	C	T179103593C	ABL2	NM_007314.4(ABL2):c.*4125A>G	noncoding	Benign
1	179551453	T	G	T179551453G	NPHS2	NM_014625.4(NPHS2):c.874-2A>C	noncoding	Pathogenic/Likely_pathogenic
1	179551525	C	G	C179551525G	NPHS2	NM_014625.4(NPHS2):c.874-74G>C	noncoding	Benign
1	179551580	T	C	T179551580C	NPHS2	NM_014625.4(NPHS2):c.874-129A>G	noncoding	Benign
1	179551656	G	A	G179551656A	NPHS2	NM_014625.4(NPHS2):c.874-205C>T	noncoding	Benign
1	179551709	G	A	G179551709A	NPHS2	NM_014625.4(NPHS2):c.874-258C>T	noncoding	Benign
1	179552549	T	C	T179552549C	NPHS2	NM_014625.4(NPHS2):c.873+54A>G	noncoding	Benign
1	179552602	C	A	C179552602A	NPHS2	NM_014625.4(NPHS2):c.873+1G>T	noncoding	Pathogenic
1	179552614	C	T	C179552614T	NPHS2	NM_014625.4(NPHS2):c.862G>A:p.Ala288Thr	coding	Pathogenic/Likely_pathogenic
1	179552617	G	A	G179552617A	NPHS2	NM_014625.4(NPHS2):c.859C>T:p.Gln287Ter	coding	Pathogenic/Likely_pathogenic
1	179552797	G	T	G179552797T	NPHS2	NM_014625.4(NPHS2):c.795-116C>A	noncoding	Benign
1	179552947	C	A	C179552947A	NPHS2	NM_014625.4(NPHS2):c.795-266G>T	noncoding	Benign
1	179552964	G	A	G179552964A	NPHS2	NM_014625.4(NPHS2):c.795-283C>T	noncoding	Benign
1	179554502	C	T	C179554502T	NPHS2	NM_014625.4(NPHS2):c.768G>A:p.Trp256Ter	coding	Pathogenic
1	179556917	A	T	A179556917T	NPHS2	NM_014625.4(NPHS2):c.738+110T>A	noncoding	Benign
1	179557025	A	G	A179557025G	NPHS2	NM_014625.4(NPHS2):c.738+2T>C	noncoding	Pathogenic/Likely_pathogenic
1	179559707	A	G	A179559707G	NPHS2	NM_014625.4(NPHS2):c.506T>C:p.Leu169Pro	coding	Pathogenic
1	179559727	G	T	G179559727T	NPHS2	NM_014625.4(NPHS2):c.486C>A:p.Tyr162Ter	coding	Pathogenic
1	179559782	G	A	G179559782A	NPHS2	NM_014625.4(NPHS2):c.452-21C>T	noncoding	Benign
1	179559792	A	G	A179559792G	NPHS2	NM_014625.4(NPHS2):c.452-31T>C	noncoding	Benign
1	179559807	G	A	G179559807A	NPHS2	NM_014625.4(NPHS2):c.452-46C>T	noncoding	Benign
1	179559905	G	A	G179559905A	NPHS2	NM_014625.4(NPHS2):c.452-144C>T	noncoding	Benign
1	179559942	A	G	A179559942G	NPHS2	NM_014625.4(NPHS2):c.452-181T>C	noncoding	Benign
1	179560015	T	C	T179560015C	NPHS2	NM_014625.4(NPHS2):c.452-254A>G	noncoding	Benign
1	179561006	A	C	A179561006C	NPHS2	NM_014625.4(NPHS2):c.451+283T>G	noncoding	Benign
1	179575864	T	A	T179575864A	NPHS2	NM_014625.4(NPHS2):c.1A>T:p.Met1Leu	coding	Pathogenic
1	179575980	G	A	G179575980A	NPHS2	NM_014625.4(NPHS2):c.-116C>T	noncoding	Benign
1	179576049	A	G	A179576049G	NPHS2	NM_014625.4(NPHS2):c.-185T>C	noncoding	Benign
1	179882017	C	T	C179882017T	TOR1AIP1	Single_allele	noncoding	Benign
1	179882051	C	G	C179882051G	TOR1AIP1	Single_allele	noncoding	Benign
1	179882173	C	T	C179882173T	TOR1AIP1	Single_allele	noncoding	Benign
1	179882651	C	A	C179882651A	TOR1AIP1	NM_015602.4(TOR1AIP1):c.149C>A:p.Ser50Ter	coding	Pathogenic
1	179882845	C	T	C179882845T	TOR1AIP1	NM_015602.4(TOR1AIP1):c.343C>T:p.Arg115Ter	coding	Pathogenic
1	179882851	C	T	C179882851T	TOR1AIP1	NM_015602.4(TOR1AIP1):c.349C>T:p.Gln117Ter	coding	Pathogenic
1	179884891	A	T	A179884891T	TOR1AIP1	NM_015602.4(TOR1AIP1):c.553+122A>T	noncoding	Benign
1	179889198	C	T	C179889198T	TOR1AIP1	NM_015602.4(TOR1AIP1):c.554-115C>T	noncoding	Benign
1	179889312	G	A	G179889312A	TOR1AIP1	NM_015602.4(TOR1AIP1):c.554-1G>A	coding	Benign
1	179901055	T	C	T179901055C	TOR1AIP1	NM_015602.4(TOR1AIP1):c.653-247T>C	noncoding	Benign
1	179901493	A	G	A179901493G	TOR1AIP1	NM_015602.4(TOR1AIP1):c.739+105A>G	noncoding	Benign
1	179907765	A	T	A179907765T	TOR1AIP1	NM_015602.4(TOR1AIP1):c.797-58A>T	noncoding	Benign
1	179913790	G	A	G179913790A	TOR1AIP1	NM_015602.4(TOR1AIP1):c.908-208G>A	noncoding	Benign
1	179914107	A	G	A179914107G	TOR1AIP1	NM_015602.4(TOR1AIP1):c.964+53A>G	noncoding	Benign
1	179914359	G	A	G179914359A	TOR1AIP1	NM_015602.4(TOR1AIP1):c.964+305G>A	noncoding	Benign
1	180248001	G	A	G180248001A	LHX4	NM_033343.4(LHX4):c.77-284G>A	noncoding	Benign
1	180248017	C	T	C180248017T	LHX4	NM_033343.4(LHX4):c.77-268C>T	noncoding	Benign
1	180248057	C	A	C180248057A	LHX4	NM_033343.4(LHX4):c.77-228C>A	noncoding	Benign
1	180248115	C	T	C180248115T	LHX4	NM_033343.4(LHX4):c.77-170C>T	noncoding	Benign
1	180248265	C	A	C180248265A	LHX4	NM_033343.4(LHX4):c.77-20C>A	noncoding	Benign
1	180248298	C	T	C180248298T	LHX4	NM_033343.4(LHX4):c.90C>T:p.Cys30=	coding	Benign/Likely_benign
1	180248521	G	A	G180248521A	LHX4	NM_033343.4(LHX4):c.248+65G>A	noncoding	Benign
1	180248656	C	T	C180248656T	LHX4	NM_033343.4(LHX4):c.248+200C>T	noncoding	Benign
1	180266272	G	A	G180266272A	LHX4	NM_033343.4(LHX4):c.249-120G>A	noncoding	Benign
1	180271617	C	T	C180271617T	LHX4	NM_033343.4(LHX4):c.606+83C>T	coding	Benign
1	180274255	A	C	A180274255C	LHX4	NM_033343.4(LHX4):c.849A>C:p.Gly283=	coding	Benign/Likely_benign
1	180274285	C	T	C180274285T	LHX4	NM_033343.4(LHX4):c.879C>T:p.Asp293=	coding	Benign
1	180631834	A	G	A180631834G	XPR1	Single_allele	noncoding	Benign
1	180631870	A	G	A180631870G	XPR1	Single_allele	noncoding	Benign
1	180632070	G	A	G180632070A	XPR1	NM_004736.4(XPR1):c.-132G>A	noncoding	Benign
1	180787920	A	G	A180787920G	XPR1	NM_004736.4(XPR1):c.223+66A>G	noncoding	Benign
1	180788008	G	A	G180788008A	XPR1	NM_004736.4(XPR1):c.223+154G>A	noncoding	Benign
1	180788150	T	G	T180788150G	XPR1	NM_004736.4(XPR1):c.223+296T>G	noncoding	Benign
1	180803188	G	A	G180803188A	XPR1	NM_004736.4(XPR1):c.224-200G>A	noncoding	Benign
1	180803209	G	C	G180803209C	XPR1	NM_004736.4(XPR1):c.224-179G>C	noncoding	Benign
1	180803278	G	A	G180803278A	XPR1	NM_004736.4(XPR1):c.224-110G>A	noncoding	Benign
1	180803299	A	G	A180803299G	XPR1	NM_004736.4(XPR1):c.224-89A>G	noncoding	Benign
1	180803572	T	C	T180803572C	XPR1	NM_004736.4(XPR1):c.408T>C:p.Ser136=	coding	Benign
1	180811388	A	G	A180811388G	XPR1	NM_004736.4(XPR1):c.682-19A>G	noncoding	Benign
1	180824728	G	A	G180824728A	XPR1	NM_004736.4(XPR1):c.764-25G>A	noncoding	Benign
1	180824737	C	A	C180824737A	XPR1	NM_004736.4(XPR1):c.764-16C>A	noncoding	Benign
1	180825338	A	G	A180825338G	XPR1	NM_004736.4(XPR1):c.1128A>G:p.Lys376=	coding	Benign/Likely_benign
1	180825517	T	G	T180825517G	XPR1	NM_004736.4(XPR1):c.1134+173T>G	noncoding	Benign
1	180825578	T	C	T180825578C	XPR1	NM_004736.4(XPR1):c.1134+234T>C	noncoding	Benign
1	180825625	C	A	C180825625A	XPR1	NM_004736.4(XPR1):c.1134+281C>A	noncoding	Benign
1	180834786	T	C	T180834786C	XPR1	NM_004736.4(XPR1):c.1135-88T>C	noncoding	Benign
1	180834829	C	T	C180834829T	XPR1	NM_004736.4(XPR1):c.1135-45C>T	noncoding	Benign
1	180834897	C	T	C180834897T	XPR1	NM_004736.4(XPR1):c.1158C>T:p.Phe386=	coding	Benign
1	180835063	A	T	A180835063T	XPR1	NM_004736.4(XPR1):c.1306+18A>T	noncoding	Benign
1	180836613	A	G	A180836613G	XPR1	NM_004736.4(XPR1):c.1398A>G:p.Arg466=	coding	Benign
1	180863489	G	A	G180863489A	XPR1	NM_004736.4(XPR1):c.1502-219G>A	noncoding	Benign
1	180863653	A	T	A180863653T	XPR1	NM_004736.4(XPR1):c.1502-55A>T	noncoding	Benign
1	180864136	A	G	A180864136G	XPR1	NM_004736.4(XPR1):c.1668+262A>G	noncoding	Benign
1	180873668	G	A	G180873668A	XPR1	NM_004736.4(XPR1):c.1669-135G>A	noncoding	Benign
1	180873686	G	A	G180873686A	XPR1	NM_004736.4(XPR1):c.1669-117G>A	noncoding	Benign
1	180873720	G	T	G180873720T	XPR1	NM_004736.4(XPR1):c.1669-83G>T	noncoding	Benign
1	180873783	A	T	A180873783T	XPR1	NM_004736.4(XPR1):c.1669-20A>T	noncoding	Benign
1	180873857	A	G	A180873857G	XPR1	NM_004736.4(XPR1):c.1723A>G:p.Ile575Val	coding	Benign/Likely_benign
1	180879945	A	G	A180879945G	XPR1	NM_004736.4(XPR1):c.1809-131A>G	noncoding	Benign
1	180880004	A	C	A180880004C	XPR1	NM_004736.4(XPR1):c.1809-72A>C	noncoding	Benign
1	180880290	G	A	G180880290A	XPR1	NM_004736.4(XPR1):c.2023G>A:p.Ala675Thr	coding	Benign/Likely_benign
1	180880358	T	C	T180880358C	XPR1	NM_004736.4(XPR1):c.2030+61T>C	noncoding	Benign
1	180880503	G	A	G180880503A	XPR1	NM_004736.4(XPR1):c.2030+206G>A	noncoding	Benign
1	180880512	C	T	C180880512T	XPR1	NM_004736.4(XPR1):c.2030+215C>T	noncoding	Benign
1	180883919	G	T	G180883919T	XPR1	NM_004736.4(XPR1):c.2031-87G>T	noncoding	Benign
1	181049076	G	A	G181049076A	MR1	NM_001385161.1(MR1):c.92G>A:p.Arg31His	coding	Pathogenic
1	181483772	G	T	G181483772T	CACNA1E	NM_001205293.3(CACNA1E):c.28G>T:p.Ala10Ser	coding	Benign
1	181483800	C	T	C181483800T	CACNA1E	NM_001205293.3(CACNA1E):c.56C>T:p.Ser19Leu	coding	Benign
1	181483819	G	T	G181483819T	CACNA1E	NM_001205293.3(CACNA1E):c.75G>T:p.Arg25=	coding	Benign
1	181483927	C	T	C181483927T	CACNA1E	NM_001205293.3(CACNA1E):c.183C>T:p.Asn61=	coding	Benign
1	181510594	C	A	C181510594A	CACNA1E	NM_001205293.3(CACNA1E):c.372+12C>A	noncoding	Benign
1	181510770	G	A	G181510770A	CACNA1E	NM_001205293.3(CACNA1E):c.372+188G>A	noncoding	Benign
1	181511047	C	T	C181511047T	CACNA1E	NM_001205293.3(CACNA1E):c.373-324C>T	noncoding	Benign
1	181511286	C	T	C181511286T	CACNA1E	NM_001205293.3(CACNA1E):c.373-85C>T	noncoding	Benign
1	181511357	C	T	C181511357T	CACNA1E	NM_001205293.3(CACNA1E):c.373-14C>T	noncoding	Benign/Likely_benign
1	181511499	G	C	G181511499C	CACNA1E	NM_001205293.3(CACNA1E):c.501G>C:p.Val167=	coding	Benign
1	181577530	A	C	A181577530C	CACNA1E	NM_001205293.3(CACNA1E):c.513-236A>C	noncoding	Benign
1	181577531	C	A	C181577531A	CACNA1E	NM_001205293.3(CACNA1E):c.513-235C>A	noncoding	Benign
1	181578162	A	G	A181578162G	CACNA1E	NM_001205293.3(CACNA1E):c.616+293A>G	noncoding	Benign
1	181579205	A	G	A181579205G	CACNA1E	NM_001205293.3(CACNA1E):c.750A>G:p.Ala250=	coding	Benign
1	181580411	T	G	T181580411G	CACNA1E	NM_001205293.3(CACNA1E):c.770-184T>G	noncoding	Benign
1	181580548	G	A	G181580548A	CACNA1E	NM_001205293.3(CACNA1E):c.770-47G>A	noncoding	Benign
1	181580638	G	A	G181580638A	CACNA1E	NM_001205293.3(CACNA1E):c.813G>A:p.Gln271=	coding	Benign
1	181580770	G	A	G181580770A	CACNA1E	NM_001205293.3(CACNA1E):c.945G>A:p.Leu315=	coding	Benign
1	181651078	T	C	T181651078C	CACNA1E	NM_001205293.3(CACNA1E):c.952-260T>C	noncoding	Benign
1	181651340	C	T	C181651340T	CACNA1E	NM_001205293.3(CACNA1E):c.954C>T:p.Thr318=	coding	Benign
1	181651355	A	G	A181651355G	CACNA1E	NM_001205293.3(CACNA1E):c.969A>G:p.Gly323=	coding	Benign
1	181651409	T	C	T181651409C	CACNA1E	NM_001205293.3(CACNA1E):c.1023T>C:p.Phe341=	coding	Benign/Likely_benign
1	181651439	C	A	C181651439A	CACNA1E	NM_001205293.3(CACNA1E):c.1053C>A:p.Ser351=	coding	Benign
1	181651439	C	T	C181651439T	CACNA1E	NM_001205293.3(CACNA1E):c.1053C>T:p.Ser351=	coding	Benign
1	181651453	G	A	G181651453A	CACNA1E	NM_001205293.3(CACNA1E):c.1055+12G>A	noncoding	Benign
1	181651472	A	T	A181651472T	CACNA1E	NM_001205293.3(CACNA1E):c.1055+31A>T	noncoding	Benign
1	181651561	G	C	G181651561C	CACNA1E	NM_001205293.3(CACNA1E):c.1055+120G>C	noncoding	Benign
1	181710946	G	A	G181710946A	CACNA1E	NM_001205293.3(CACNA1E):c.1056-8G>A	noncoding	Benign
1	181710948	C	T	C181710948T	CACNA1E	NM_001205293.3(CACNA1E):c.1056-6C>T	noncoding	Benign
1	181711017	G	A	G181711017A	CACNA1E	NM_001205293.3(CACNA1E):c.1119G>A:p.Gln373=	coding	Benign/Likely_benign
1	181711082	G	A	G181711082A	CACNA1E	NM_001205293.3(CACNA1E):c.1171+13G>A	noncoding	Benign
1	181715334	A	G	A181715334G	CACNA1E	NM_001205293.3(CACNA1E):c.1172-4A>G	noncoding	Benign
1	181715381	C	A	C181715381A	CACNA1E	NM_001205293.3(CACNA1E):c.1215C>A:p.Ser405=	coding	Benign/Likely_benign
1	181715469	A	G	A181715469G	CACNA1E	NM_001205293.3(CACNA1E):c.1225+78A>G	noncoding	Benign
1	181715751	A	T	A181715751T	CACNA1E	NM_001205293.3(CACNA1E):c.1226-289A>T	noncoding	Benign
1	181716122	C	G	C181716122G	CACNA1E	NM_001205293.3(CACNA1E):c.1308C>G:p.Ser436=	coding	Benign/Likely_benign
1	181716141	C	G	C181716141G	CACNA1E	NM_001205293.3(CACNA1E):c.1315+12C>G	noncoding	Benign
1	181716297	A	T	A181716297T	CACNA1E	NM_001205293.3(CACNA1E):c.1315+168A>T	noncoding	Benign
1	181717080	T	C	T181717080C	CACNA1E	NM_001205293.3(CACNA1E):c.1316-13T>C	noncoding	Benign
1	181717125	G	T	G181717125T	CACNA1E	NM_001205293.3(CACNA1E):c.1348G>T:p.Ala450Ser	coding	Benign
1	181717182	A	G	A181717182G	CACNA1E	NM_001205293.3(CACNA1E):c.1405A>G:p.Ile469Val	coding	Benign
1	181717557	C	T	C181717557T	CACNA1E	NM_001205293.3(CACNA1E):c.1525+255C>T	noncoding	Benign
1	181718098	G	A	G181718098A	CACNA1E	NM_001205293.3(CACNA1E):c.1569G>A:p.Met523Ile	coding	Benign/Likely_benign
1	181718177	C	A	C181718177A	CACNA1E	NM_001205293.3(CACNA1E):c.1638+10C>A	noncoding	Benign
1	181718212	T	C	T181718212C	CACNA1E	NM_001205293.3(CACNA1E):c.1638+45T>C	noncoding	Benign
1	181719732	G	A	G181719732A	CACNA1E	NM_001205293.3(CACNA1E):c.1639-19G>A	noncoding	Benign
1	181719976	C	T	C181719976T	CACNA1E	NM_001205293.3(CACNA1E):c.1751+113C>T	noncoding	Benign
1	181720346	C	G	C181720346G	CACNA1E	NM_001205293.3(CACNA1E):c.1883+9C>G	noncoding	Benign
1	181720739	T	G	T181720739G	CACNA1E	NM_001205293.3(CACNA1E):c.1884-44T>G	noncoding	Benign
1	181720834	A	G	A181720834G	CACNA1E	NM_001205293.3(CACNA1E):c.1935A>G:p.Ala645=	coding	Benign/Likely_benign
1	181720874	G	A	G181720874A	CACNA1E	NM_001205293.3(CACNA1E):c.1956+19G>A	noncoding	Benign/Likely_benign
1	181720902	G	A	G181720902A	CACNA1E	NM_001205293.3(CACNA1E):c.1956+47G>A	noncoding	Benign
1	181721609	A	T	A181721609T	CACNA1E	NM_001205293.3(CACNA1E):c.1957-149A>T	noncoding	Benign
1	181724519	C	T	C181724519T	CACNA1E	NM_001205293.3(CACNA1E):c.2124C>T:p.Asn708=	coding	Benign
1	181724786	A	G	A181724786G	CACNA1E	NM_001205293.3(CACNA1E):c.2142+249A>G	noncoding	Benign
1	181725934	T	C	T181725934C	CACNA1E	NM_001205293.3(CACNA1E):c.2143-131T>C	noncoding	Benign
1	181725952	T	G	T181725952G	CACNA1E	NM_001205293.3(CACNA1E):c.2143-113T>G	noncoding	Benign
1	181726160	C	T	C181726160T	CACNA1E	NM_001205293.3(CACNA1E):c.2238C>T:p.Ile746=	coding	Benign
1	181731191	A	G	A181731191G	CACNA1E	NM_001205293.3(CACNA1E):c.2257A>G:p.Arg753Gly	coding	Benign
1	181731194	C	T	C181731194T	CACNA1E	NM_001205293.3(CACNA1E):c.2260C>T:p.His754Tyr	coding	Benign/Likely_benign
1	181731243	C	G	C181731243G	CACNA1E	NM_001205293.3(CACNA1E):c.2297+12C>G	noncoding	Benign
1	181731278	G	A	G181731278A	CACNA1E	NM_001205293.3(CACNA1E):c.2297+47G>A	noncoding	Benign
1	181732287	C	T	C181732287T	CACNA1E	NM_001205293.3(CACNA1E):c.2298-97C>T	noncoding	Benign
1	181732346	T	C	T181732346C	CACNA1E	NM_001205293.3(CACNA1E):c.2298-38T>C	noncoding	Benign
1	181732368	C	T	C181732368T	CACNA1E	NM_001205293.3(CACNA1E):c.2298-16C>T	noncoding	Benign/Likely_benign
1	181732414	C	T	C181732414T	CACNA1E	NM_001205293.3(CACNA1E):c.2328C>T:p.Ser776=	coding	Benign
1	181732491	C	T	C181732491T	CACNA1E	NM_001205293.3(CACNA1E):c.2405C>T:p.Ala802Val	coding	Benign
1	181732494	C	T	C181732494T	CACNA1E	NM_001205293.3(CACNA1E):c.2408C>T:p.Pro803Leu	coding	Benign
1	181732512	A	G	A181732512G	CACNA1E	NM_001205293.3(CACNA1E):c.2426A>G:p.Asn809Ser	coding	Benign
1	181732556	C	T	C181732556T	CACNA1E	NM_001205293.3(CACNA1E):c.2470C>T:p.Pro824Ser	coding	Benign/Likely_benign
1	181732572	G	A	G181732572A	CACNA1E	NM_001205293.3(CACNA1E):c.2486G>A:p.Arg829Gln	coding	Benign
1	181732578	G	C	G181732578C	CACNA1E	NM_001205293.3(CACNA1E):c.2492G>C:p.Arg831Thr	coding	Benign
1	181732632	G	A	G181732632A	CACNA1E	NM_001205293.3(CACNA1E):c.2546G>A:p.Arg849His	coding	Benign
1	181732663	T	A	T181732663A	CACNA1E	NM_001205293.3(CACNA1E):c.2577T>A:p.Asp859Glu	coding	Benign
1	181732708	G	T	G181732708T	CACNA1E	NM_001205293.3(CACNA1E):c.2622G>T:p.Leu874Phe	coding	Benign
1	181732767	C	T	C181732767T	CACNA1E	NM_001205293.3(CACNA1E):c.2681C>T:p.Pro894Leu	coding	Benign
1	181732818	G	C	G181732818C	CACNA1E	NM_001205293.3(CACNA1E):c.2732G>C:p.Arg911Pro	coding	Benign
1	181732842	G	A	G181732842A	CACNA1E	NM_001205293.3(CACNA1E):c.2756G>A:p.Arg919Gln	coding	Benign
1	181732844	C	T	C181732844T	CACNA1E	NM_001205293.3(CACNA1E):c.2758C>T:p.Arg920Cys	coding	Benign
1	181732853	C	T	C181732853T	CACNA1E	NM_001205293.3(CACNA1E):c.2767C>T:p.His923Tyr	coding	Benign
1	181732854	A	G	A181732854G	CACNA1E	NM_001205293.3(CACNA1E):c.2768A>G:p.His923Arg	coding	Benign
1	181732862	G	A	G181732862A	CACNA1E	NM_001205293.3(CACNA1E):c.2776G>A:p.Val926Ile	coding	Benign
1	181732898	C	T	C181732898T	CACNA1E	NM_001205293.3(CACNA1E):c.2812C>T:p.Arg938Trp	coding	Benign
1	181732899	G	A	G181732899A	CACNA1E	NM_001205293.3(CACNA1E):c.2813G>A:p.Arg938Gln	coding	Benign
1	181732945	C	T	C181732945T	CACNA1E	NM_001205293.3(CACNA1E):c.2859C>T:p.Pro953=	coding	Benign
1	181732975	G	T	G181732975T	CACNA1E	NM_001205293.3(CACNA1E):c.2889G>T:p.Arg963Ser	coding	Benign
1	181733358	G	A	G181733358A	CACNA1E	NM_001205293.3(CACNA1E):c.2949-79G>A	noncoding	Benign
1	181733455	G	A	G181733455A	CACNA1E	NM_001205293.3(CACNA1E):c.2967G>A:p.Val989=	coding	Benign
1	181733469	G	T	G181733469T	CACNA1E	NM_001205293.3(CACNA1E):c.2981G>T:p.Gly994Val	coding	Benign
1	181733480	G	A	G181733480A	CACNA1E	NM_001205293.3(CACNA1E):c.2992G>A:p.Gly998Ser	coding	Benign/Likely_benign
1	181733499	C	G	C181733499G	CACNA1E	NM_001205293.3(CACNA1E):c.3011C>G:p.Thr1004Ser	coding	Benign
1	181733500	C	A	C181733500A	CACNA1E	NM_001205293.3(CACNA1E):c.3012C>A:p.Thr1004=	coding	Benign
1	181733543	G	A	G181733543A	CACNA1E	NM_001205293.3(CACNA1E):c.3055G>A:p.Val1019Met	coding	Benign/Likely_benign
1	181733553	C	T	C181733553T	CACNA1E	NM_001205293.3(CACNA1E):c.3065C>T:p.Thr1022Met	coding	Benign/Likely_benign
1	181733561	G	A	G181733561A	CACNA1E	NM_001205293.3(CACNA1E):c.3073G>A:p.Glu1025Lys	coding	Benign
1	181733631	A	G	A181733631G	CACNA1E	NM_001205293.3(CACNA1E):c.3143A>G:p.Gln1048Arg	coding	Benign
1	181733668	G	A	G181733668A	CACNA1E	NM_001205293.3(CACNA1E):c.3180G>A:p.Thr1060=	coding	Benign
1	181733671	C	G	C181733671G	CACNA1E	NM_001205293.3(CACNA1E):c.3183C>G:p.Asp1061Glu	coding	Benign
1	181733695	C	T	C181733695T	CACNA1E	NM_001205293.3(CACNA1E):c.3207C>T:p.Ser1069=	coding	Benign
1	181733717	G	A	G181733717A	CACNA1E	NM_001205293.3(CACNA1E):c.3229G>A:p.Val1077Met	coding	Benign
1	181733721	A	G	A181733721G	CACNA1E	NM_001205293.3(CACNA1E):c.3233A>G:p.Asp1078Gly	coding	Benign
1	181733788	C	T	C181733788T	CACNA1E	NM_001205293.3(CACNA1E):c.3262+38C>T	noncoding	Benign
1	181736244	T	C	T181736244C	CACNA1E	NM_001205293.3(CACNA1E):c.3263-31T>C	noncoding	Benign
1	181736259	C	T	C181736259T	CACNA1E	NM_001205293.3(CACNA1E):c.3263-16C>T	noncoding	Benign/Likely_benign
1	181736260	G	A	G181736260A	CACNA1E	NM_001205293.3(CACNA1E):c.3263-15G>A	noncoding	Benign
1	181736262	G	A	G181736262A	CACNA1E	NM_001205293.3(CACNA1E):c.3263-13G>A	noncoding	Benign
1	181736287	C	T	C181736287T	CACNA1E	NM_001205293.3(CACNA1E):c.3275C>T:p.Thr1092Met	coding	Benign
1	181736373	C	T	C181736373T	CACNA1E	NM_001205293.3(CACNA1E):c.3361C>T:p.Arg1121Cys	coding	Benign/Likely_benign
1	181736485	G	C	G181736485C	CACNA1E	NM_001205293.3(CACNA1E):c.3422+51G>C	noncoding	Benign
1	181736646	A	T	A181736646T	CACNA1E	NM_001205293.3(CACNA1E):c.3422+212A>T	noncoding	Benign
1	181737404	C	T	C181737404T	CACNA1E	NM_001205293.3(CACNA1E):c.3423-121C>T	noncoding	Benign
1	181737416	G	A	G181737416A	CACNA1E	NM_001205293.3(CACNA1E):c.3423-109G>A	noncoding	Benign
1	181737549	C	T	C181737549T	CACNA1E	NM_001205293.3(CACNA1E):c.3447C>T:p.Ile1149=	coding	Benign
1	181737559	C	T	C181737559T	CACNA1E	NM_001205293.3(CACNA1E):c.3457C>T:p.Arg1153Cys	coding	Benign
1	181737645	G	A	G181737645A	CACNA1E	NM_001205293.3(CACNA1E):c.3543G>A:p.Glu1181=	coding	Benign/Likely_benign
1	181737690	T	C	T181737690C	CACNA1E	NM_001205293.3(CACNA1E):c.3552+36T>C	noncoding	Benign
1	181739032	A	G	A181739032G	CACNA1E	NM_001205293.3(CACNA1E):c.3613-115A>G	noncoding	Benign
1	181750439	T	C	T181750439C	CACNA1E	NM_001205293.3(CACNA1E):c.3720-37T>C	noncoding	Benign
1	181750479	C	T	C181750479T	CACNA1E	NM_001205293.3(CACNA1E):c.3723C>T:p.Asn1241=	coding	Benign
1	181750543	C	T	C181750543T	CACNA1E	NM_001205293.3(CACNA1E):c.3731+56C>T	noncoding	Benign
1	181752042	A	G	A181752042G	CACNA1E	NM_001205293.3(CACNA1E):c.3732-101A>G	noncoding	Benign
1	181752129	C	T	C181752129T	CACNA1E	NM_001205293.3(CACNA1E):c.3732-14C>T	noncoding	Benign
1	181752282	A	G	A181752282G	CACNA1E	NM_001205293.3(CACNA1E):c.3828+43A>G	noncoding	Benign
1	181755035	G	A	G181755035A	CACNA1E	NM_001205293.3(CACNA1E):c.3829-202G>A	noncoding	Benign
1	181755073	A	G	A181755073G	CACNA1E	NM_001205293.3(CACNA1E):c.3829-164A>G	noncoding	Benign
1	181755245	C	T	C181755245T	CACNA1E	NM_001205293.3(CACNA1E):c.3837C>T:p.Phe1279=	coding	Benign
1	181755259	C	A	C181755259A	CACNA1E	NM_001205293.3(CACNA1E):c.3851C>A:p.Thr1284Asn	coding	Benign
1	181755348	A	C	A181755348C	CACNA1E	NM_001205293.3(CACNA1E):c.3940A>C:p.Lys1314Gln	coding	Pathogenic
1	181755392	G	T	G181755392T	CACNA1E	NM_001205293.3(CACNA1E):c.3984G>T:p.Glu1328Asp	coding	Benign
1	181755413	G	A	G181755413A	CACNA1E	NM_001205293.3(CACNA1E):c.3989+16G>A	noncoding	Benign
1	181755974	T	C	T181755974C	CACNA1E	NM_001205293.3(CACNA1E):c.4008T>C:p.His1336=	coding	Benign
1	181756055	G	T	G181756055T	CACNA1E	NM_001205293.3(CACNA1E):c.4089G>T:p.Leu1363=	coding	Benign
1	181757009	A	G	A181757009G	CACNA1E	NM_001205293.3(CACNA1E):c.4212A>G:p.Val1404=	coding	Benign
1	181757084	A	G	A181757084G	CACNA1E	NM_001205293.3(CACNA1E):c.4287A>G:p.Gln1429=	coding	Benign
1	181757140	G	A	G181757140A	CACNA1E	NM_001205293.3(CACNA1E):c.4329+14G>A	noncoding	Benign/Likely_benign
1	181757277	G	A	G181757277A	CACNA1E	NM_001205293.3(CACNA1E):c.4329+151G>A	noncoding	Benign
1	181757894	A	T	A181757894T	CACNA1E	NM_001205293.3(CACNA1E):c.4330-53A>T	noncoding	Benign
1	181758021	G	A	G181758021A	CACNA1E	NM_001205293.3(CACNA1E):c.4404G>A:p.Gln1468=	coding	Benign
1	181758137	G	A	G181758137A	CACNA1E	NM_001205293.3(CACNA1E):c.4494+26G>A	noncoding	Benign
1	181758457	T	C	T181758457C	CACNA1E	NM_001205293.3(CACNA1E):c.4495-301T>C	noncoding	Benign
1	181758525	G	C	G181758525C	CACNA1E	NM_001205293.3(CACNA1E):c.4495-233G>C	noncoding	Benign
1	181758732	T	C	T181758732C	CACNA1E	NM_001205293.3(CACNA1E):c.4495-26T>C	noncoding	Benign
1	181758808	C	T	C181758808T	CACNA1E	NM_001205293.3(CACNA1E):c.4545C>T:p.Ile1515=	coding	Benign/Likely_benign
1	181758880	A	C	A181758880C	CACNA1E	NM_001205293.3(CACNA1E):c.4605+12A>C	noncoding	Benign/Likely_benign
1	181758889	C	T	C181758889T	CACNA1E	NM_001205293.3(CACNA1E):c.4605+21C>T	noncoding	Benign
1	181762531	T	C	T181762531C	CACNA1E	NM_001205293.3(CACNA1E):c.4606-43T>C	noncoding	Benign
1	181762537	C	A	C181762537A	CACNA1E	NM_001205293.3(CACNA1E):c.4606-37C>A	noncoding	Benign
1	181762545	A	T	A181762545T	CACNA1E	NM_001205293.3(CACNA1E):c.4606-29A>T	noncoding	Benign
1	181763382	A	G	A181763382G	CACNA1E	NM_001205293.3(CACNA1E):c.4690-24A>G	noncoding	Benign
1	181763559	A	G	A181763559G	CACNA1E	NM_001205293.3(CACNA1E):c.4815+28A>G	noncoding	Benign
1	181763748	T	C	T181763748C	CACNA1E	NM_001205293.3(CACNA1E):c.4815+217T>C	noncoding	Benign
1	181766543	C	T	C181766543T	CACNA1E	NM_001205293.3(CACNA1E):c.4816-3C>T	noncoding	Benign/Likely_benign
1	181766635	G	A	G181766635A	CACNA1E	NM_001205293.3(CACNA1E):c.4881+24G>A	noncoding	Benign
1	181771065	T	C	T181771065C	CACNA1E	NM_001205293.3(CACNA1E):c.4882-228T>C	noncoding	Benign
1	181771425	T	C	T181771425C	CACNA1E	NM_001205293.3(CACNA1E):c.4973+41T>C	noncoding	Benign
1	181771607	A	G	A181771607G	CACNA1E	NM_001205293.3(CACNA1E):c.4973+223A>G	noncoding	Benign
1	181771788	A	G	A181771788G	CACNA1E	NM_001205293.3(CACNA1E):c.4974-278A>G	noncoding	Benign
1	181772100	C	T	C181772100T	CACNA1E	NM_001205293.3(CACNA1E):c.5008C>T:p.Leu1670=	coding	Benign
1	181772141	C	T	C181772141T	CACNA1E	NM_001205293.3(CACNA1E):c.5049C>T:p.Thr1683=	coding	Benign
1	181772142	G	A	G181772142A	CACNA1E	NM_001205293.3(CACNA1E):c.5050G>A:p.Ala1684Thr	coding	Benign
1	181772159	C	G	C181772159G	CACNA1E	NM_001205293.3(CACNA1E):c.5067C>G:p.Asn1689Lys	coding	Benign
1	181772159	C	T	C181772159T	CACNA1E	NM_001205293.3(CACNA1E):c.5067C>T:p.Asn1689=	coding	Benign
1	181772165	C	T	C181772165T	CACNA1E	NM_001205293.3(CACNA1E):c.5073C>T:p.Asn1691=	coding	Benign
1	181772297	C	A	C181772297A	CACNA1E	NM_001205293.3(CACNA1E):c.5139+66C>A	noncoding	Benign
1	181776199	C	T	C181776199T	CACNA1E	NM_001205293.3(CACNA1E):c.5238C>T:p.Arg1746=	coding	Benign
1	181776200	G	A	G181776200A	CACNA1E	NM_001205293.3(CACNA1E):c.5239G>A:p.Val1747Ile	coding	Benign/Likely_benign
1	181776214	T	C	T181776214C	CACNA1E	NM_001205293.3(CACNA1E):c.5253T>C:p.Tyr1751=	coding	Benign
1	181776248	G	A	G181776248A	CACNA1E	NM_001205293.3(CACNA1E):c.5267+20G>A	noncoding	Benign
1	181776444	G	A	G181776444A	CACNA1E	NM_001205293.3(CACNA1E):c.5267+216G>A	noncoding	Benign
1	181781333	G	T	G181781333T	CACNA1E	NM_001205293.3(CACNA1E):c.5268-94G>T	noncoding	Benign
1	181781796	T	C	T181781796C	CACNA1E	NM_001205293.3(CACNA1E):c.5364+273T>C	noncoding	Benign
1	181783393	A	T	A181783393T	CACNA1E	NM_001205293.3(CACNA1E):c.5365-286A>T	noncoding	Benign
1	181783578	C	T	C181783578T	CACNA1E	NM_001205293.3(CACNA1E):c.5365-101C>T	noncoding	Benign
1	181783599	C	T	C181783599T	CACNA1E	NM_001205293.3(CACNA1E):c.5365-80C>T	noncoding	Benign
1	181783647	T	G	T181783647G	CACNA1E	NM_001205293.3(CACNA1E):c.5365-32T>G	noncoding	Benign
1	181783654	T	G	T181783654G	CACNA1E	NM_001205293.3(CACNA1E):c.5365-25T>G	noncoding	Benign
1	181783807	G	C	G181783807C	CACNA1E	NM_001205293.3(CACNA1E):c.5470+23G>C	noncoding	Benign
1	181783894	T	C	T181783894C	CACNA1E	NM_001205293.3(CACNA1E):c.5470+110T>C	noncoding	Benign
1	181784766	A	G	A181784766G	CACNA1E	NM_001205293.3(CACNA1E):c.5576A>G:p.Lys1859Arg	coding	Benign
1	181784923	A	C	A181784923C	CACNA1E	NM_001205293.3(CACNA1E):c.5578+155A>C	noncoding	Benign
1	181785178	G	C	G181785178C	CACNA1E	NM_001205293.3(CACNA1E):c.5579-140G>C	noncoding	Benign
1	181785386	G	A	G181785386A	CACNA1E	NM_001205293.3(CACNA1E):c.5647G>A:p.Val1883Met	coding	Benign
1	181785428	A	C	A181785428C	CACNA1E	NM_001205293.3(CACNA1E):c.5679+10A>C	noncoding	Benign
1	181785667	C	A	C181785667A	CACNA1E	NM_001205293.3(CACNA1E):c.5680-46C>A	noncoding	Benign
1	181785667	C	T	C181785667T	CACNA1E	NM_001205293.3(CACNA1E):c.5680-46C>T	noncoding	Benign
1	181785809	G	A	G181785809A	CACNA1E	NM_001205293.3(CACNA1E):c.5776G>A:p.Val1926Ile	coding	Benign
1	181790116	C	T	C181790116T	CACNA1E	NM_001205293.3(CACNA1E):c.5787-329C>T	noncoding	Benign
1	181790281	C	G	C181790281G	CACNA1E	NM_001205293.3(CACNA1E):c.5787-164C>G	noncoding	Benign
1	181790337	T	A	T181790337A	CACNA1E	NM_001205293.3(CACNA1E):c.5787-108T>A	noncoding	Benign
1	181790428	T	C	T181790428C	CACNA1E	NM_001205293.3(CACNA1E):c.5787-17T>C	noncoding	Benign
1	181790452	C	T	C181790452T	CACNA1E	NM_001205293.3(CACNA1E):c.5794C>T:p.Arg1932Trp	coding	Benign
1	181790478	A	C	A181790478C	CACNA1E	NM_001205293.3(CACNA1E):c.5820A>C:p.Pro1940=	coding	Benign/Likely_benign
1	181790485	C	T	C181790485T	CACNA1E	NM_001205293.3(CACNA1E):c.5827C>T:p.Pro1943Ser	coding	Benign
1	181790502	G	A	G181790502A	CACNA1E	NM_001205293.3(CACNA1E):c.5844G>A:p.Gln1948=	coding	Benign
1	181790511	T	C	T181790511C	CACNA1E	NM_001205293.3(CACNA1E):c.5853T>C:p.Cys1951=	coding	Benign
1	181790521	G	A	G181790521A	CACNA1E	NM_001205293.3(CACNA1E):c.5863G>A:p.Ala1955Thr	coding	Benign
1	181790546	G	A	G181790546A	CACNA1E	NM_001205293.3(CACNA1E):c.5888G>A:p.Arg1963Gln	coding	Benign
1	181790566	T	C	T181790566C	CACNA1E	NM_001205293.3(CACNA1E):c.5898+10T>C	noncoding	Benign
1	181790587	T	A	T181790587A	CACNA1E	NM_001205293.3(CACNA1E):c.5898+31T>A	noncoding	Benign
1	181790753	A	G	A181790753G	CACNA1E	NM_001205293.3(CACNA1E):c.5898+197A>G	noncoding	Benign
1	181793624	G	A	G181793624A	CACNA1E	NM_001205293.3(CACNA1E):c.5899-41G>A	noncoding	Benign
1	181793756	G	T	G181793756T	CACNA1E	NM_001205293.3(CACNA1E):c.5990G>T:p.Arg1997Met	coding	Benign
1	181793813	A	G	A181793813G	CACNA1E	NM_001205293.3(CACNA1E):c.6027+20A>G	noncoding	Benign
1	181793820	C	G	C181793820G	CACNA1E	NM_001205293.3(CACNA1E):c.6027+27C>G	noncoding	Benign
1	181793830	C	T	C181793830T	CACNA1E	NM_001205293.3(CACNA1E):c.6027+37C>T	noncoding	Benign
1	181793836	G	A	G181793836A	CACNA1E	NM_001205293.3(CACNA1E):c.6027+43G>A	noncoding	Benign
1	181794820	C	T	C181794820T	CACNA1E	NM_001205293.3(CACNA1E):c.6028-44C>T	noncoding	Benign
1	181794828	C	A	C181794828A	CACNA1E	NM_001205293.3(CACNA1E):c.6028-36C>A	noncoding	Benign
1	181794836	G	A	G181794836A	CACNA1E	NM_001205293.3(CACNA1E):c.6028-28G>A	noncoding	Benign
1	181795102	C	G	C181795102G	CACNA1E	NM_001205293.3(CACNA1E):c.6208+58C>G	noncoding	Benign
1	181796806	G	A	G181796806A	CACNA1E	NM_001205293.3(CACNA1E):c.6347G>A:p.Arg2116His	coding	Benign
1	181796809	G	A	G181796809A	CACNA1E	NM_001205293.3(CACNA1E):c.6350G>A:p.Arg2117His	coding	Benign
1	181796818	G	A	G181796818A	CACNA1E	NM_001205293.3(CACNA1E):c.6359G>A:p.Arg2120Lys	coding	Benign/Likely_benign
1	181796861	G	A	G181796861A	CACNA1E	NM_001205293.3(CACNA1E):c.6399+3G>A	noncoding	Benign
1	181796865	G	A	G181796865A	CACNA1E	NM_001205293.3(CACNA1E):c.6399+7G>A	noncoding	Benign
1	181796947	C	T	C181796947T	CACNA1E	NM_001205293.3(CACNA1E):c.6399+89C>T	noncoding	Benign
1	181798270	C	T	C181798270T	CACNA1E	NM_001205293.3(CACNA1E):c.6400-22C>T	noncoding	Benign
1	181798320	T	C	T181798320C	CACNA1E	NM_001205293.3(CACNA1E):c.6428T>C:p.Ile2143Thr	coding	Benign
1	181798362	G	A	G181798362A	CACNA1E	NM_001205293.3(CACNA1E):c.6470G>A:p.Arg2157Gln	coding	Benign/Likely_benign
1	181798407	A	G	A181798407G	CACNA1E	NM_001205293.3(CACNA1E):c.6515A>G:p.Tyr2172Cys	coding	Benign
1	181798413	C	T	C181798413T	CACNA1E	NM_001205293.3(CACNA1E):c.6521C>T:p.Ser2174Phe	coding	Benign
1	181798422	G	A	G181798422A	CACNA1E	NM_001205293.3(CACNA1E):c.6530G>A:p.Arg2177Gln	coding	Benign
1	181798428	C	T	C181798428T	CACNA1E	NM_001205293.3(CACNA1E):c.6536C>T:p.Ala2179Val	coding	Benign/Likely_benign
1	181798429	G	A	G181798429A	CACNA1E	NM_001205293.3(CACNA1E):c.6537G>A:p.Ala2179=	coding	Benign
1	181798459	C	T	C181798459T	CACNA1E	NM_001205293.3(CACNA1E):c.6567C>T:p.Ser2189=	coding	Benign
1	181798515	C	T	C181798515T	CACNA1E	NM_001205293.3(CACNA1E):c.6623C>T:p.Thr2208Ile	coding	Benign
1	181798517	G	A	G181798517A	CACNA1E	NM_001205293.3(CACNA1E):c.6625G>A:p.Glu2209Lys	coding	Benign/Likely_benign
1	181798613	G	A	G181798613A	CACNA1E	NM_001205293.3(CACNA1E):c.6721G>A:p.Ala2241Thr	coding	Benign
1	181798712	C	T	C181798712T	CACNA1E	NM_001205293.3(CACNA1E):c.6820C>T:p.His2274Tyr	coding	Benign
1	181798724	A	G	A181798724G	CACNA1E	NM_001205293.3(CACNA1E):c.6832A>G:p.Met2278Val	coding	Benign/Likely_benign
1	181798767	G	A	G181798767A	CACNA1E	NM_001205293.3(CACNA1E):c.6875G>A:p.Gly2292Glu	coding	Benign
1	181798770	C	T	C181798770T	CACNA1E	NM_001205293.3(CACNA1E):c.6878C>T:p.Pro2293Leu	coding	Benign
1	181798775	A	T	A181798775T	CACNA1E	NM_001205293.3(CACNA1E):c.6883A>T:p.Met2295Leu	coding	Benign
1	181798812	C	T	C181798812T	CACNA1E	NM_001205293.3(CACNA1E):c.6920C>T:p.Thr2307Met	coding	Benign
1	181798847	C	A	C181798847A	CACNA1E	NM_001205293.3(CACNA1E):c.*13C>A	noncoding	Benign
1	181799050	T	C	T181799050C	CACNA1E	NM_001205293.3(CACNA1E):c.*216T>C	noncoding	Benign
1	182385715	A	G	A182385715G	GLUL	NM_001033044.4(GLUL):c.603+45T>C	noncoding	Benign
1	182385911	A	G	A182385911G	GLUL	NM_001033044.4(GLUL):c.476-24T>C	noncoding	Benign
1	182386185	T	C	T182386185C	GLUL	NM_001033044.4(GLUL):c.475+71A>G	noncoding	Benign
1	182386944	A	C	A182386944C	GLUL	NM_001033044.4(GLUL):c.328+187T>G	noncoding	Benign
1	182387112	T	C	T182387112C	GLUL	NM_001033044.4(GLUL):c.328+19A>G	noncoding	Benign
1	182388418	T	C	T182388418C	GLUL	NM_001033044.4(GLUL):c.166+154A>G	noncoding	Benign
1	182389061	C	G	C182389061G	GLUL	NM_001033044.4(GLUL):c.-13-311G>C	noncoding	Benign
1	182585628	C	T	C182585628T	RNASEL	NM_021133.4(RNASEL):c.1179G>A:p.Thr393=	coding	Benign
1	182586453	G	A	G182586453A	RNASEL	NM_021133.4(RNASEL):c.354C>T:p.Val118=	coding	Benign
1	183023599	A	G	A183023599G	LAMC1	NM_002293.4(LAMC1):c.-118A>G	noncoding	Benign
1	183023890	C	T	C183023890T	LAMC1	NM_002293.4(LAMC1):c.174C>T:p.Ala58=	coding	Benign
1	183024223	G	T	G183024223T	LAMC1	NM_002293.4(LAMC1):c.418+89G>T	noncoding	Benign
1	183024246	C	G	C183024246G	LAMC1	NM_002293.4(LAMC1):c.418+112C>G	noncoding	Benign
1	183024303	T	C	T183024303C	LAMC1	NM_002293.4(LAMC1):c.418+169T>C	noncoding	Benign
1	183103566	C	T	C183103566T	LAMC1	NM_002293.4(LAMC1):c.657C>T:p.Asn219=	coding	Benign
1	183103773	T	C	T183103773C	LAMC1	NM_002293.4(LAMC1):c.723+141T>C	noncoding	Benign
1	183108480	C	T	C183108480T	LAMC1	NM_002293.4(LAMC1):c.854+74C>T	noncoding	Benign
1	183108483	C	T	C183108483T	LAMC1	NM_002293.4(LAMC1):c.854+77C>T	noncoding	Benign
1	183110277	C	T	C183110277T	LAMC1	NM_002293.4(LAMC1):c.855-211C>T	noncoding	Benign
1	183110374	C	T	C183110374T	LAMC1	NM_002293.4(LAMC1):c.855-114C>T	noncoding	Benign
1	183110515	G	A	G183110515A	LAMC1	NM_002293.4(LAMC1):c.882G>A:p.Glu294=	coding	Benign
1	183110527	C	T	C183110527T	LAMC1	NM_002293.4(LAMC1):c.894C>T:p.Asn298=	coding	Benign
1	183110632	G	A	G183110632A	LAMC1	NM_002293.4(LAMC1):c.999G>A:p.Ala333=	coding	Benign
1	183110718	T	C	T183110718C	LAMC1	NM_002293.4(LAMC1):c.1021+64T>C	noncoding	Benign
1	183114413	T	C	T183114413C	LAMC1	NM_002293.4(LAMC1):c.1022-118T>C	noncoding	Benign
1	183115472	A	G	A183115472G	LAMC1	NM_002293.4(LAMC1):c.1211-48A>G	noncoding	Benign
1	183115473	C	A	C183115473A	LAMC1	NM_002293.4(LAMC1):c.1211-47C>A	noncoding	Benign
1	183115508	T	C	T183115508C	LAMC1	NM_002293.4(LAMC1):c.1211-12T>C	noncoding	Benign
1	183115551	C	A	C183115551A	LAMC1	NM_002293.4(LAMC1):c.1242C>A:p.Gly414=	coding	Benign
1	183116561	A	G	A183116561G	LAMC1	NM_002293.4(LAMC1):c.1329-16A>G	noncoding	Benign
1	183116620	A	G	A183116620G	LAMC1	NM_002293.4(LAMC1):c.1372A>G:p.Ile458Val	coding	Benign
1	183117055	T	C	T183117055C	LAMC1	NM_002293.4(LAMC1):c.1564+152T>C	noncoding	Benign
1	183117103	G	A	G183117103A	LAMC1	NM_002293.4(LAMC1):c.1564+200G>A	noncoding	Benign
1	183117622	A	C	A183117622C	LAMC1	NM_002293.4(LAMC1):c.1776A>C:p.Ala592=	coding	Benign
1	183118350	A	T	A183118350T	LAMC1	NM_002293.4(LAMC1):c.1990+204A>T	noncoding	Benign
1	183118380	A	C	A183118380C	LAMC1	NM_002293.4(LAMC1):c.1990+234A>C	noncoding	Benign
1	183121616	A	G	A183121616G	LAMC1	NM_002293.4(LAMC1):c.1991-107A>G	noncoding	Benign
1	183122023	T	C	T183122023C	LAMC1	NM_002293.4(LAMC1):c.2213-40T>C	noncoding	Benign
1	183122046	G	A	G183122046A	LAMC1	NM_002293.4(LAMC1):c.2213-17G>A	noncoding	Benign
1	183122264	G	A	G183122264A	LAMC1	NM_002293.4(LAMC1):c.2401+13G>A	noncoding	Benign
1	183124740	T	C	T183124740C	LAMC1	NM_002293.4(LAMC1):c.2511T>C:p.Asn837=	coding	Benign
1	183125056	T	C	T183125056C	LAMC1	NM_002293.4(LAMC1):c.2647+180T>C	noncoding	Benign
1	183125075	T	C	T183125075C	LAMC1	NM_002293.4(LAMC1):c.2647+199T>C	noncoding	Benign
1	183125179	T	C	T183125179C	LAMC1	NM_002293.4(LAMC1):c.2648-218T>C	noncoding	Benign
1	183125187	C	T	C183125187T	LAMC1	NM_002293.4(LAMC1):c.2648-210C>T	noncoding	Benign
1	183125412	T	C	T183125412C	LAMC1	NM_002293.4(LAMC1):c.2663T>C:p.Leu888Pro	coding	Benign
1	183125667	G	A	G183125667A	LAMC1	NM_002293.4(LAMC1):c.2801+117G>A	noncoding	Benign
1	183125889	C	T	C183125889T	LAMC1	NM_002293.4(LAMC1):c.2802-231C>T	noncoding	Benign
1	183125913	G	A	G183125913A	LAMC1	NM_002293.4(LAMC1):c.2802-207G>A	noncoding	Benign
1	183126099	A	G	A183126099G	LAMC1	NM_002293.4(LAMC1):c.2802-21A>G	noncoding	Benign
1	183126461	T	C	T183126461C	LAMC1	NM_002293.4(LAMC1):c.2944+199T>C	noncoding	Benign
1	183127447	T	C	T183127447C	LAMC1	NM_002293.4(LAMC1):c.3123+43T>C	noncoding	Benign
1	183127499	G	A	G183127499A	LAMC1	NM_002293.4(LAMC1):c.3123+95G>A	noncoding	Benign
1	183127533	C	T	C183127533T	LAMC1	NM_002293.4(LAMC1):c.3123+129C>T	noncoding	Benign
1	183127559	T	C	T183127559C	LAMC1	NM_002293.4(LAMC1):c.3123+155T>C	noncoding	Benign
1	183128474	A	T	A183128474T	LAMC1	NM_002293.4(LAMC1):c.3124-120A>T	noncoding	Benign
1	183128866	A	G	A183128866G	LAMC1	NM_002293.4(LAMC1):c.3280+116A>G	noncoding	Benign
1	183130245	T	C	T183130245C	LAMC1	NM_002293.4(LAMC1):c.3281-99T>C	noncoding	Benign
1	183130425	G	A	G183130425A	LAMC1	NM_002293.4(LAMC1):c.3362G>A:p.Arg1121Gln	coding	Benign
1	183130566	G	A	G183130566A	LAMC1	NM_002293.4(LAMC1):c.3486+17G>A	noncoding	Benign
1	183130686	G	A	G183130686A	LAMC1	NM_002293.4(LAMC1):c.3486+137G>A	noncoding	Benign
1	183131420	T	C	T183131420C	LAMC1	NM_002293.4(LAMC1):c.3566+42T>C	noncoding	Benign
1	183131461	A	G	A183131461G	LAMC1	NM_002293.4(LAMC1):c.3566+83A>G	noncoding	Benign
1	183131463	T	G	T183131463G	LAMC1	NM_002293.4(LAMC1):c.3566+85T>G	noncoding	Benign
1	183132167	C	T	C183132167T	LAMC1	NM_002293.4(LAMC1):c.3567-233C>T	noncoding	Benign
1	183132309	A	C	A183132309C	LAMC1	NM_002293.4(LAMC1):c.3567-91A>C	noncoding	Benign
1	183132316	T	G	T183132316G	LAMC1	NM_002293.4(LAMC1):c.3567-84T>G	noncoding	Benign
1	183132336	G	A	G183132336A	LAMC1	NM_002293.4(LAMC1):c.3567-64G>A	noncoding	Benign
1	183132447	A	G	A183132447G	LAMC1	NM_002293.4(LAMC1):c.3614A>G:p.Asn1205Ser	coding	Benign
1	183132490	G	A	G183132490A	LAMC1	NM_002293.4(LAMC1):c.3657G>A:p.Leu1219=	coding	Benign
1	183132551	G	A	G183132551A	LAMC1	NM_002293.4(LAMC1):c.3704+14G>A	noncoding	Benign
1	183133584	C	T	C183133584T	LAMC1	NM_002293.4(LAMC1):c.3849+34C>T	noncoding	Benign
1	183133720	T	C	T183133720C	LAMC1	NM_002293.4(LAMC1):c.3849+170T>C	noncoding	Benign
1	183134469	A	G	A183134469G	LAMC1	NM_002293.4(LAMC1):c.3850-191A>G	noncoding	Benign
1	183134518	T	A	T183134518A	LAMC1	NM_002293.4(LAMC1):c.3850-142T>A	noncoding	Benign
1	183134878	G	A	G183134878A	LAMC1	NM_002293.4(LAMC1):c.3999+69G>A	noncoding	Benign
1	183134944	C	G	C183134944G	LAMC1	NM_002293.4(LAMC1):c.4000-98C>G	noncoding	Benign
1	183135392	T	C	T183135392C	LAMC1	NM_002293.4(LAMC1):c.4114+236T>C	noncoding	Benign
1	183136189	C	T	C183136189T	LAMC1	NM_002293.4(LAMC1):c.4115-197C>T	noncoding	Benign
1	183136264	C	G	C183136264G	LAMC1	NM_002293.4(LAMC1):c.4115-122C>G	noncoding	Benign
1	183136367	G	A	G183136367A	LAMC1	NM_002293.4(LAMC1):c.4115-19G>A	noncoding	Benign
1	183136570	G	A	G183136570A	LAMC1	NM_002293.4(LAMC1):c.4299G>A:p.Ala1433=	coding	Benign
1	183136635	C	T	C183136635T	LAMC1	NM_002293.4(LAMC1):c.4314+50C>T	noncoding	Benign
1	183137604	G	A	G183137604A	LAMC1	NM_002293.4(LAMC1):c.4315-65G>A	noncoding	Benign
1	183140367	T	A	T183140367A	LAMC1	NM_002293.4(LAMC1):c.4474-37T>A	noncoding	Benign
1	183142906	G	C	G183142906C	LAMC1	NM_002293.4(LAMC1):c.*116G>C	noncoding	Benign
1	183186565	C	A	C183186565A	LAMC2	NM_005562.3(LAMC2):c.79+134C>A	noncoding	Benign
1	183186582	C	A	C183186582A	LAMC2	NM_005562.3(LAMC2):c.79+151C>A	noncoding	Benign
1	183186643	A	C	A183186643C	LAMC2	NM_005562.3(LAMC2):c.79+212A>C	noncoding	Benign
1	183207937	C	T	C183207937T	LAMC2	NM_005562.3(LAMC2):c.136C>T:p.Gln46Ter	coding	Pathogenic
1	183208108	G	A	G183208108A	LAMC2	NM_005562.3(LAMC2):c.268+39G>A	noncoding	Benign
1	183208122	A	G	A183208122G	LAMC2	NM_005562.3(LAMC2):c.268+53A>G	noncoding	Benign
1	183208319	T	C	T183208319C	LAMC2	NM_005562.3(LAMC2):c.268+250T>C	noncoding	Benign
1	183215293	C	T	C183215293T	LAMC2	NM_005562.3(LAMC2):c.269-160C>T	noncoding	Benign
1	183215389	C	T	C183215389T	LAMC2	NM_005562.3(LAMC2):c.269-64C>T	noncoding	Benign
1	183215527	C	T	C183215527T	LAMC2	NM_005562.3(LAMC2):c.343C>T:p.Arg115Ter	coding	Pathogenic
1	183215563	G	T	G183215563T	LAMC2	NM_005562.3(LAMC2):c.379G>T:p.Gly127Trp	coding	Pathogenic
1	183215713	T	G	T183215713G	LAMC2	NM_005562.3(LAMC2):c.404+125T>G	noncoding	Benign
1	183215825	C	T	C183215825T	LAMC2	NM_005562.3(LAMC2):c.404+237C>T	noncoding	Benign
1	183218359	T	C	T183218359C	LAMC2	NM_005562.3(LAMC2):c.405-31T>C	noncoding	Benign
1	183222009	C	T	C183222009T	LAMC2	NM_005562.3(LAMC2):c.641-80C>T	noncoding	Benign
1	183222112	C	T	C183222112T	LAMC2	NM_005562.3(LAMC2):c.664C>T:p.Gln222Ter	coding	Pathogenic
1	183222173	C	G	C183222173G	LAMC2	NM_005562.3(LAMC2):c.725C>G:p.Ser242Ter	coding	Pathogenic
1	183222514	C	T	C183222514T	LAMC2	NM_005562.3(LAMC2):c.763+303C>T	noncoding	Benign
1	183223316	C	G	C183223316G	LAMC2	NM_005562.3(LAMC2):c.945C>G:p.Tyr315Ter	coding	Pathogenic
1	183223361	A	G	A183223361G	LAMC2	NM_005562.3(LAMC2):c.953+37A>G	noncoding	Benign
1	183225484	A	G	A183225484G	LAMC2	NM_005562.3(LAMC2):c.954-124A>G	noncoding	Benign
1	183225609	T	C	T183225609C	LAMC2	NM_005562.3(LAMC2):c.955T>C:p.Leu319=	coding	Benign
1	183225663	C	T	C183225663T	LAMC2	NM_005562.3(LAMC2):c.1009C>T:p.Arg337Ter	coding	Pathogenic
1	183225699	C	T	C183225699T	LAMC2	NM_005562.3(LAMC2):c.1045C>T:p.Arg349Ter	coding	Pathogenic
1	183225946	G	A	G183225946A	LAMC2	NM_005562.3(LAMC2):c.1066+226G>A	noncoding	Benign
1	183226916	G	T	G183226916T	LAMC2	NM_005562.3(LAMC2):c.1285G>T:p.Gly429Ter	coding	Pathogenic
1	183227082	C	A	C183227082A	LAMC2	NM_005562.3(LAMC2):c.1285+166C>A	noncoding	Benign
1	183227098	C	A	C183227098A	LAMC2	NM_005562.3(LAMC2):c.1285+182C>A	noncoding	Benign
1	183227232	C	T	C183227232T	LAMC2	NM_005562.3(LAMC2):c.1286-283C>T	noncoding	Benign
1	183227579	C	A	C183227579A	LAMC2	NM_005562.3(LAMC2):c.1350C>A:p.Tyr450Ter	coding	Pathogenic
1	183227916	C	T	C183227916T	LAMC2	NM_005562.3(LAMC2):c.1468+219C>T	noncoding	Benign
1	183228170	A	G	A183228170G	LAMC2	NM_005562.3(LAMC2):c.1469-204A>G	noncoding	Benign
1	183228555	C	A	C183228555A	LAMC2	NM_005562.3(LAMC2):c.1650C>A:p.Cys550Ter	coding	Pathogenic
1	183228693	G	A	G183228693A	LAMC2	NM_005562.3(LAMC2):c.1714+74G>A	noncoding	Benign
1	183228878	C	T	C183228878T	LAMC2	NM_005562.3(LAMC2):c.1714+259C>T	noncoding	Benign
1	183231095	A	T	A183231095T	LAMC2	NM_005562.3(LAMC2):c.1849A>T:p.Lys617Ter	coding	Pathogenic
1	183232201	G	A	G183232201A	LAMC2	NM_005562.3(LAMC2):c.1872G>A:p.Met624Ile	coding	Benign
1	183232650	A	G	A183232650G	LAMC2	NM_005562.3(LAMC2):c.2015-2A>G	noncoding	Pathogenic
1	183232660	A	T	A183232660T	LAMC2	NM_005562.3(LAMC2):c.2023A>T:p.Arg675Ter	coding	Pathogenic
1	183232711	C	T	C183232711T	LAMC2	NM_005562.3(LAMC2):c.2074C>T:p.Gln692Ter	coding	Pathogenic
1	183235342	G	A	G183235342A	LAMC2	NM_005562.3(LAMC2):c.2301-233G>A	noncoding	Benign
1	183235869	G	T	G183235869T	LAMC2	NM_005562.3(LAMC2):c.2456+139G>T	noncoding	Benign
1	183236345	C	T	C183236345T	LAMC2	NM_005562.3(LAMC2):c.2457-115C>T	noncoding	Benign
1	183237455	G	A	G183237455A	LAMC2	NM_005562.3(LAMC2):c.2705G>A:p.Trp902Ter	coding	Pathogenic
1	183237971	C	G	C183237971G	LAMC2	NM_005562.3(LAMC2):c.2755-336C>G	noncoding	Benign
1	183238409	A	T	A183238409T	LAMC2	NM_005562.3(LAMC2):c.2857A>T:p.Lys953Ter	coding	Pathogenic
1	183239375	C	T	C183239375T	LAMC2	NM_005562.3(LAMC2):c.2881C>T:p.Gln961Ter	coding	Pathogenic
1	183239707	T	G	T183239707G	LAMC2	NM_005562.3(LAMC2):c.3069+144T>G	noncoding	Benign
1	183239710	T	C	T183239710C	LAMC2	NM_005562.3(LAMC2):c.3069+147T>C	noncoding	Benign
1	183239944	C	T	C183239944T	LAMC2	NM_005562.3(LAMC2):c.3070-96C>T	noncoding	Benign
1	183239951	C	A	C183239951A	LAMC2	NM_005562.3(LAMC2):c.3070-89C>A	noncoding	Benign
1	183240498	A	G	A183240498G	LAMC2	NM_005562.3(LAMC2):c.3328+107A>G	coding	Benign
1	183243036	C	A	C183243036A	LAMC2	NM_005562.3(LAMC2):c.3329-111C>A	noncoding	Benign
1	183243183	T	G	T183243183G	LAMC2	NM_005562.3(LAMC2):c.3365T>G:p.Leu1122Ter	coding	Pathogenic/Likely_pathogenic
1	183243203	C	T	C183243203T	LAMC2	NM_005562.3(LAMC2):c.3385C>T:p.Arg1129Ter	coding	Pathogenic/Likely_pathogenic
1	183243269	C	T	C183243269T	LAMC2	NM_005562.3(LAMC2):c.3451C>T:p.Gln1151Ter	coding	Pathogenic
1	183556317	T	G	T183556317G	NCF2	NM_000433.4(NCF2):c.1469-87A>C	noncoding	Benign
1	183556485	A	T	A183556485T	NCF2	NM_000433.4(NCF2):c.1469-255T>A	noncoding	Benign
1	183560222	T	C	T183560222C	NCF2	NM_000433.4(NCF2):c.1342A>G:p.Asn448Asp	coding	Benign
1	183560519	G	A	G183560519A	NCF2	NM_000433.4(NCF2):c.1291-246C>T	noncoding	Benign
1	183563065	G	A	G183563065A	NCF2	NM_000433.4(NCF2):c.1290+130C>T	noncoding	Benign
1	183563450	C	A	C183563450A	NCF2	NM_000433.4(NCF2):c.1162G>T:p.Glu388Ter	coding	Pathogenic
1	183564051	G	A	G183564051A	NCF2	NM_000433.4(NCF2):c.1001-21C>T	noncoding	Benign
1	183565409	C	G	C183565409G	NCF2	NM_000433.4(NCF2):c.1000+295G>C	noncoding	Benign
1	183565546	G	T	G183565546T	NCF2	NM_000433.4(NCF2):c.1000+158C>A	noncoding	Benign
1	183565800	C	T	C183565800T	NCF2	NM_000433.4(NCF2):c.925-21G>A	noncoding	Benign
1	183566934	G	A	G183566934A	NCF2	NM_000433.4(NCF2):c.910C>T:p.Gln304Ter	coding	Pathogenic
1	183567126	G	A	G183567126A	NCF2	NM_000433.4(NCF2):c.855+78C>T	noncoding	Benign
1	183567229	C	T	C183567229T	NCF2	NM_000433.4(NCF2):c.830G>A:p.Trp277Ter	coding	Pathogenic
1	183567459	T	G	T183567459G	NCF2	NM_000433.4(NCF2):c.714-114A>C	noncoding	Benign
1	183567461	A	G	A183567461G	NCF2	NM_000433.4(NCF2):c.714-116T>C	noncoding	Benign
1	183568890	A	G	A183568890G	NCF2	NM_000433.4(NCF2):c.713+252T>C	noncoding	Benign
1	183569141	C	T	C183569141T	NCF2	NM_000433.4(NCF2):c.713+1G>A	noncoding	Pathogenic
1	183573612	G	T	G183573612T	NCF2	NM_000433.4(NCF2):c.502-320C>A	noncoding	Benign
1	183574637	C	T	C183574637T	NCF2	NM_000433.4(NCF2):c.367-16G>A	noncoding	Benign
1	183574638	C	T	C183574638T	NCF2	NM_000433.4(NCF2):c.367-17G>A	noncoding	Benign
1	183574639	G	A	G183574639A	NCF2	NM_000433.4(NCF2):c.367-18C>T	noncoding	Benign
1	183577338	G	A	G183577338A	NCF2	NM_000433.4(NCF2):c.366+261C>T	noncoding	Benign
1	183577367	G	A	G183577367A	NCF2	NM_000433.4(NCF2):c.366+232C>T	noncoding	Benign
1	183577897	T	C	T183577897C	NCF2	NM_000433.4(NCF2):c.258-190A>G	noncoding	Benign
1	183579857	A	G	A183579857G	NCF2	NM_000433.4(NCF2):c.258-2150T>C	noncoding	Benign
1	183586622	T	C	T183586622C	NCF2	NM_000433.4(NCF2):c.257+273A>G	noncoding	Benign
1	183586644	C	T	C183586644T	NCF2	NM_000433.4(NCF2):c.257+251G>A	noncoding	Benign
1	183586744	G	A	G183586744A	NCF2	NM_000433.4(NCF2):c.257+151C>T	noncoding	Benign
1	183586978	C	T	C183586978T	NCF2	NM_000433.4(NCF2):c.175-1G>A	coding	Pathogenic
1	183586990	G	A	G183586990A	NCF2	NM_000433.4(NCF2):c.175-13C>T	noncoding	Benign
1	183589861	G	A	G183589861A	NCF2	NM_000433.4(NCF2):c.174+295C>T	noncoding	Benign
1	183589970	G	A	G183589970A	NCF2	NM_000433.4(NCF2):c.174+186C>T	noncoding	Benign
1	183590300	C	T	C183590300T	NCF2	NM_000433.4(NCF2):c.30G>A:p.Trp10Ter	coding	Pathogenic
1	183590329	T	A	T183590329A	NCF2	NM_000433.4(NCF2):c.1A>T:p.Met1Leu	coding	Pathogenic
1	183590706	G	A	G183590706A	NCF2	NM_001127651.3(NCF2):c.-31+134C>T	noncoding	Benign
1	183590726	T	C	T183590726C	NCF2	NM_001127651.3(NCF2):c.-31+114A>G	noncoding	Benign
1	183630503	C	T	C183630503T	ARPC5	NM_005717.4(ARPC5):c.351G>A:p.Pro117=	coding	Benign
1	184051629	C	T	C184051629T	TSEN15	Single_allele	noncoding	Benign
1	184051687	G	A	G184051687A	TSEN15	Single_allele	noncoding	Benign
1	184051715	C	A	C184051715A	TSEN15	Single_allele	noncoding	Benign
1	184051811	G	A	G184051811A	TSEN15	NM_052965.4(TSEN15):c.56G>A:p.Gly19Asp	coding	Benign
1	184054395	A	C	A184054395C	TSEN15	NM_052965.4(TSEN15):c.177A>C:p.Gln59His	coding	Benign
1	184054712	A	G	A184054712G	TSEN15	NM_052965.4(TSEN15):c.218-16A>G	noncoding	Benign
1	184054985	A	G	A184054985G	TSEN15	NM_052965.4(TSEN15):c.353+122A>G	noncoding	Benign
1	184072592	G	A	G184072592A	TSEN15	NM_052965.4(TSEN15):c.496-235G>A	noncoding	Benign
1	184072924	T	C	T184072924C	TSEN15	NM_052965.4(TSEN15):c.*77T>C	noncoding	Benign
1	184712562	A	T	A184712562T	EDEM3	NM_025191.4(EDEM3):c.1407T>A:p.Tyr469Ter	coding	Pathogenic
1	184716892	C	T	C184716892T	EDEM3	NM_025191.4(EDEM3):c.1366G>A:p.Asp456Asn	coding	Pathogenic
1	184721300	T	A	T184721300A	EDEM3	NM_025191.4(EDEM3):c.940A>T:p.Arg314Ter	coding	Pathogenic
1	184723750	C	A	C184723750A	EDEM3	NM_025191.4(EDEM3):c.853+1G>T	noncoding	Pathogenic
1	184749569	T	C	T184749569C	EDEM3	NM_025191.4(EDEM3):c.182A>G:p.Asp61Gly	coding	Pathogenic
1	185091737	T	G	T185091737G	RNF2	NM_007212.4(RNF2):c.246T>G:p.Ser82Arg	coding	Pathogenic
1	185911741	G	A	G185911741A	HMCN1	NM_031935.3(HMCN1):c.861G>A:p.Val287=	coding	Benign/Likely_benign
1	185911797	A	G	A185911797G	HMCN1	NM_031935.3(HMCN1):c.900+17A>G	noncoding	Benign
1	185962499	C	T	C185962499T	HMCN1	NM_031935.3(HMCN1):c.1829-19C>T	noncoding	Benign
1	185982377	G	A	G185982377A	HMCN1	NM_031935.3(HMCN1):c.2778G>A:p.Lys926=	coding	Benign
1	185993329	C	T	C185993329T	HMCN1	NM_031935.3(HMCN1):c.3505+20C>T	noncoding	Benign
1	185994858	A	T	A185994858T	HMCN1	NM_031935.3(HMCN1):c.3549A>T:p.Gln1183His	coding	Benign
1	185995074	G	A	G185995074A	HMCN1	NM_031935.3(HMCN1):c.3765G>A:p.Thr1255=	coding	Benign
1	186000049	C	T	C186000049T	HMCN1	NM_031935.3(HMCN1):c.3879C>T:p.Thr1293=	coding	Benign
1	186003853	C	A	C186003853A	HMCN1	NM_031935.3(HMCN1):c.4475+9C>A	noncoding	Benign/Likely_benign
1	186007112	G	A	G186007112A	HMCN1	NM_031935.3(HMCN1):c.4476-16G>A	noncoding	Benign
1	186015143	C	A	C186015143A	HMCN1	NM_031935.3(HMCN1):c.4631-16C>A	noncoding	Benign
1	186018166	T	C	T186018166C	HMCN1	NM_031935.3(HMCN1):c.5301-17T>C	noncoding	Benign
1	186038858	C	T	C186038858T	HMCN1	NM_031935.3(HMCN1):c.5881C>T:p.Leu1961Phe	coding	Benign/Likely_benign
1	186038899	G	C	G186038899C	HMCN1	NM_031935.3(HMCN1):c.5922G>C:p.Gln1974His	coding	Benign/Likely_benign
1	186039849	T	C	T186039849C	HMCN1	NM_031935.3(HMCN1):c.6150T>C:p.Ser2050=	coding	Benign
1	186040996	G	A	G186040996A	HMCN1	NM_031935.3(HMCN1):c.6181-17G>A	noncoding	Benign
1	186045880	A	G	A186045880G	HMCN1	NM_031935.3(HMCN1):c.6480+17A>G	noncoding	Benign
1	186053807	A	G	A186053807G	HMCN1	NM_031935.3(HMCN1):c.6701-18A>G	noncoding	Benign
1	186053832	A	G	A186053832G	HMCN1	NM_031935.3(HMCN1):c.6708A>G:p.Pro2236=	coding	Benign/Likely_benign
1	186074775	C	T	C186074775T	HMCN1	NM_031935.3(HMCN1):c.8174C>T:p.Ala2725Val	coding	Benign
1	186088245	G	A	G186088245A	HMCN1	NM_031935.3(HMCN1):c.9546G>A:p.Thr3182=	coding	Benign/Likely_benign
1	186088296	T	G	T186088296G	HMCN1	NM_031935.3(HMCN1):c.9577+20T>G	noncoding	Benign
1	186088749	A	G	A186088749G	HMCN1	NM_031935.3(HMCN1):c.9721A>G:p.Ile3241Val	coding	Benign
1	186093129	C	T	C186093129T	HMCN1	NM_031935.3(HMCN1):c.9888-5C>T	noncoding	Benign/Likely_benign
1	186093277	C	T	C186093277T	HMCN1	NM_031935.3(HMCN1):c.10012+19C>T	noncoding	Benign
1	186103454	T	C	T186103454C	HMCN1	NM_031935.3(HMCN1):c.10574-18T>C	noncoding	Benign
1	186117538	G	A	G186117538A	HMCN1	NM_031935.3(HMCN1):c.11763G>A:p.Ser3921=	coding	Benign
1	186117578	A	G	A186117578G	HMCN1	NM_031935.3(HMCN1):c.11803A>G:p.Ile3935Val	coding	Benign/Likely_benign
1	186125640	C	T	C186125640T	HMCN1	NM_031935.3(HMCN1):c.12536C>T:p.Thr4179Met	coding	Benign/Likely_benign
1	186137680	T	C	T186137680C	HMCN1	NM_031935.3(HMCN1):c.13753+12T>C	noncoding	Benign
1	186144720	G	C	G186144720C	HMCN1	NM_031935.3(HMCN1):c.14266+17G>C	noncoding	Benign
1	186145459	G	A	G186145459A	HMCN1	NM_031935.3(HMCN1):c.14323G>A:p.Gly4775Arg	coding	Benign/Likely_benign
1	186145733	C	G	C186145733G	HMCN1	NM_031935.3(HMCN1):c.14438-20C>G	noncoding	Benign
1	186145877	C	T	C186145877T	HMCN1	NM_031935.3(HMCN1):c.14562C>T:p.Pro4854=	coding	Benign/Likely_benign
1	186166796	C	T	C186166796T	HMCN1	NM_031935.3(HMCN1):c.15440-12C>T	noncoding	Benign
1	186166929	G	T	G186166929T	HMCN1	NM_031935.3(HMCN1):c.15561G>T:p.Gly5187=	coding	Benign/Likely_benign
1	186178398	A	G	A186178398G	HMCN1	NM_031935.3(HMCN1):c.15944-18A>G	noncoding	Benign
1	186188028	T	A	T186188028A	HMCN1	NM_031935.3(HMCN1):c.16541+19T>A	noncoding	Benign
1	186189701	T	C	T186189701C	HMCN1	NM_031935.3(HMCN1):c.16731T>C:p.Thr5577=	coding	Benign/Likely_benign
1	186296816	T	A	T186296816A	PRG4	NM_005807.6(PRG4):c.-30-30T>A	noncoding	Benign
1	186301693	G	T	G186301693T	PRG4	NM_005807.6(PRG4):c.301G>T:p.Glu101Ter	coding	Pathogenic
1	186307529	A	G	A186307529G	PRG4	NM_005807.6(PRG4):c.1810A>G:p.Thr604Ala	coding	Benign
1	186309867	C	T	C186309867T	PRG4	NM_005807.6(PRG4):c.3496C>T:p.Arg1166Ter	coding	Pathogenic
1	186312841	C	G	C186312841G	PRG4	NM_003292.3(TPR):c.*1130G>C	coding	Pathogenic
1	186401149	C	G	C186401149G	OCLM;ODR4	NM_017847.6(ODR4):c.1000+2105C>G	coding	Benign
1	193121735	C	A	C193121735A	CDC73	Single_allele	noncoding	Benign
1	193125245	T	C	T193125245C	CDC73	NM_024529.5(CDC73):c.237+28T>C	noncoding	Benign
1	193135424	T	A	T193135424A	CDC73	NM_024529.5(CDC73):c.341T>A:p.Leu114Ter	coding	Pathogenic
1	193135572	A	T	A193135572T	CDC73	NM_024529.5(CDC73):c.406A>T:p.Lys136Ter	coding	Pathogenic
1	193135581	C	T	C193135581T	CDC73	NM_024529.5(CDC73):c.415C>T:p.Arg139Ter	coding	Pathogenic
1	193135697	G	A	G193135697A	CDC73	NM_024529.5(CDC73):c.423+108G>A	noncoding	Benign
1	193138069	C	T	C193138069T	CDC73	NM_024529.5(CDC73):c.424-16C>T	noncoding	Benign/Likely_benign
1	193138157	C	T	C193138157T	CDC73	NM_024529.5(CDC73):c.496C>T:p.Gln166Ter	coding	Pathogenic
1	193141833	A	C	A193141833C	CDC73	NM_024529.5(CDC73):c.513-17A>C	noncoding	Benign/Likely_benign
1	193141965	C	T	C193141965T	CDC73	NM_024529.5(CDC73):c.628C>T:p.Gln210Ter	coding	Pathogenic
1	193142037	C	T	C193142037T	CDC73	NM_024529.5(CDC73):c.700C>T:p.Arg234Ter	coding	Pathogenic
1	193142127	T	A	T193142127A	CDC73	NM_024529.5(CDC73):c.729+61T>A	noncoding	Benign
1	193147939	C	T	C193147939T	CDC73	NM_024529.5(CDC73):c.802C>T:p.Arg268Ter	coding	Pathogenic
1	193147994	A	T	A193147994T	CDC73	NM_024529.5(CDC73):c.828+29A>T	noncoding	Benign
1	193152376	G	T	G193152376T	CDC73	NM_024529.5(CDC73):c.908-4G>T	noncoding	Benign/Likely_benign
1	193203834	C	T	C193203834T	CDC73	NM_024529.5(CDC73):c.1012C>T:p.Gln338Ter	coding	Pathogenic
1	193203896	G	A	G193203896A	CDC73	NM_024529.5(CDC73):c.1030+44G>A	noncoding	Benign
1	193212113	A	G	A193212113G	CDC73	NM_024529.5(CDC73):c.1066+13A>G	noncoding	Benign
1	193212282	T	G	T193212282G	CDC73	NM_024529.5(CDC73):c.1067-108T>G	noncoding	Benign
1	193212304	C	T	C193212304T	CDC73	NM_024529.5(CDC73):c.1067-86C>T	noncoding	Benign
1	193212395	C	T	C193212395T	CDC73	NM_024529.5(CDC73):c.1072C>T:p.Arg358Ter	coding	Pathogenic
1	193212495	C	G	C193212495G	CDC73	NM_024529.5(CDC73):c.1154+18C>G	noncoding	Benign
1	193212621	A	T	A193212621T	CDC73	NM_024529.5(CDC73):c.1154+144A>T	noncoding	Benign
1	193233009	G	T	G193233009T	CDC73	NM_024529.5(CDC73):c.1171G>T:p.Glu391Ter	coding	Pathogenic
1	193233017	G	A	G193233017A	CDC73	NM_024529.5(CDC73):c.1179G>A:p.Lys393=	coding	Benign/Likely_benign
1	193233033	C	T	C193233033T	CDC73	NM_024529.5(CDC73):c.1195C>T:p.Arg399Ter	coding	Pathogenic/Likely_pathogenic
1	193235921	T	G	T193235921G	CDC73	NM_024529.5(CDC73):c.1317-335T>G	noncoding	Benign
1	193236142	T	A	T193236142A	CDC73	NM_024529.5(CDC73):c.1317-114T>A	noncoding	Benign
1	193236309	G	A	G193236309A	CDC73	NM_024529.5(CDC73):c.1370G>A:p.Trp457Ter	coding	Pathogenic
1	193236333	C	G	C193236333G	CDC73	NM_024529.5(CDC73):c.1394C>G:p.Ser465Ter	coding	Pathogenic
1	193249663	T	G	T193249663G	CDC73	NM_024529.5(CDC73):c.1418-67T>G	noncoding	Benign
1	196258396	A	G	A196258396G	KCNT2	NM_198503.5(KCNT2):c.3009T>C:p.Asp1003=	coding	Benign
1	196289908	G	C	G196289908C	KCNT2	NM_198503.5(KCNT2):c.2596-4150C>G	noncoding	Benign
1	196340503	G	A	G196340503A	KCNT2	NM_198503.5(KCNT2):c.1621C>T:p.Arg541Ter	coding	Pathogenic
1	196342123	A	G	A196342123G	KCNT2	NM_198503.5(KCNT2):c.1509T>C:p.Tyr503_Glu504=	coding	Benign
1	196465362	C	G	C196465362G	KCNT2	NM_198503.5(KCNT2):c.569G>C:p.Arg190Pro	coding	Pathogenic
1	196651787	C	T	C196651787T	CFH	Single_allele	noncoding	Benign
1	196652325	T	C	T196652325C	CFH	NM_000186.4(CFH):c.58+150T>C	noncoding	Benign
1	196652379	T	A	T196652379A	CFH	NM_000186.4(CFH):c.58+204T>A	noncoding	Benign
1	196672942	C	T	C196672942T	CFH	NM_000186.4(CFH):c.59-36C>T	noncoding	Benign
1	196673076	C	T	C196673076T	CFH	NM_000186.4(CFH):c.157C>T:p.Arg53Cys	coding	Pathogenic/Likely_pathogenic
1	196673132	G	A	G196673132A	CFH	NM_000186.4(CFH):c.213G>A:p.Trp71Ter	coding	Pathogenic
1	196673977	C	T	C196673977T	CFH	NM_000186.4(CFH):c.350+15C>T	noncoding	Benign
1	196679483	C	T	C196679483T	CFH	NM_000186.4(CFH):c.620-140C>T	noncoding	Benign
1	196679732	C	G	C196679732G	CFH	NM_000186.4(CFH):c.729C>G:p.Tyr243Ter	coding	Pathogenic
1	196689367	G	T	G196689367T	CFH	NM_000186.4(CFH):c.965-53G>T	noncoding	Benign
1	196689402	T	A	T196689402A	CFH	NM_000186.4(CFH):c.965-18T>A	noncoding	Benign
1	196689633	T	G	T196689633G	CFH	NM_000186.4(CFH):c.1159+19T>G	noncoding	Benign
1	196689775	G	A	G196689775A	CFH	NM_000186.4(CFH):c.1159+161G>A	noncoding	Benign
1	196690210	G	A	G196690210A	CFH	NM_000186.4(CFH):c.1307G>A:p.Trp436Ter	coding	Pathogenic
1	196714014	A	G	A196714014G	CFH	NM_000186.4(CFH):c.1519+97A>G	noncoding	Benign
1	196715444	C	T	C196715444T	CFH	NM_000186.4(CFH):c.1520-149C>T	noncoding	Benign
1	196715445	A	G	A196715445G	CFH	NM_000186.4(CFH):c.1520-148A>G	noncoding	Benign
1	196715495	G	T	G196715495T	CFH	NM_000186.4(CFH):c.1520-98G>T	noncoding	Benign
1	196715647	G	A	G196715647A	CFH	NM_000186.4(CFH):c.1574G>A:p.Trp525Ter	coding	Pathogenic
1	196725297	G	T	G196725297T	CFH	NM_000186.4(CFH):c.1873G>T:p.Glu625Ter	coding	Pathogenic
1	196728158	C	T	C196728158T	CFH	NM_000186.4(CFH):c.2237-188C>T	noncoding	Benign
1	196736756	T	G	T196736756G	CFH	NM_000186.4(CFH):c.2414-68T>G	noncoding	Benign
1	196736796	C	A	C196736796A	CFH	NM_000186.4(CFH):c.2414-28C>A	noncoding	Benign
1	196737070	C	T	C196737070T	CFH	NM_000186.4(CFH):c.2596+64C>T	noncoding	Benign
1	196740657	G	T	G196740657T	CFH	NM_000186.4(CFH):c.2821G>T:p.Val941Phe	coding	Benign
1	196740782	A	G	A196740782G	CFH	NM_000186.4(CFH):c.2946A>G:p.Pro982=	coding	Benign/Likely_benign
1	196741027	C	T	C196741027T	CFH	NM_000186.4(CFH):c.2956+235C>T	noncoding	Benign
1	196741660	T	G	T196741660G	CFH	NM_000186.4(CFH):c.2957-215T>G	noncoding	Benign
1	196741786	T	C	T196741786C	CFH	NM_000186.4(CFH):c.2957-89T>C	noncoding	Benign
1	196741787	A	G	A196741787G	CFH	NM_000186.4(CFH):c.2957-88A>G	noncoding	Benign
1	196743468	T	C	T196743468C	CFH	NM_000186.4(CFH):c.3150T>C:p.Asn1050=	coding	Benign/Likely_benign
1	196743772	C	T	C196743772T	CFH	NM_000186.4(CFH):c.3310+144C>T	noncoding	Benign
1	196745904	C	G	C196745904G	CFH	NM_000186.4(CFH):c.3398C>G:p.Ser1133Ter	coding	Pathogenic
1	196746001	T	C	T196746001C	CFH	NM_000186.4(CFH):c.3493+2T>C	noncoding	Pathogenic
1	196746173	C	T	C196746173T	CFH	NM_000186.4(CFH):c.3493+174C>T	noncoding	Benign
1	196746977	C	T	C196746977T	CFH	NM_000186.4(CFH):c.3494-134C>T	noncoding	Benign
1	196746986	T	C	T196746986C	CFH	NM_000186.4(CFH):c.3494-125T>C	noncoding	Benign
1	196746995	T	C	T196746995C	CFH	NM_000186.4(CFH):c.3494-116T>C	noncoding	Benign
1	196747189	C	T	C196747189T	CFH	NM_000186.4(CFH):c.3572C>T:p.Ser1191Leu	coding	Pathogenic
1	196747227	G	T	G196747227T	CFH	NM_000186.4(CFH):c.3610G>T:p.Gly1204Ter	coding	Pathogenic
1	196774696	T	G	T196774696G	CFHR3	Single_allele	noncoding	Benign
1	196774797	A	C	A196774797C	CFHR3	Single_allele	noncoding	Benign
1	196774834	C	A	C196774834A	CFHR3	Single_allele	noncoding	Benign
1	196779546	A	G	A196779546G	CFHR3	NM_021023.6(CFHR3):c.253+190A>G	noncoding	Benign
1	196788128	C	T	C196788128T	CFHR3	NM_021023.6(CFHR3):c.431-88C>T	noncoding	Benign
1	196788262	C	T	C196788262T	CFHR3	NM_021023.6(CFHR3):c.477C>T:p.Ser159=	coding	Benign
1	196790249	T	A	T196790249A	CFHR3	NM_021023.6(CFHR3):c.796+22T>A	noncoding	Benign
1	196793127	T	C	T196793127C	CFHR3	NM_021023.6(CFHR3):c.797-190T>C	noncoding	Benign
1	196793172	C	A	C196793172A	CFHR3	NM_021023.6(CFHR3):c.797-145C>A	noncoding	Benign
1	196793778	G	C	G196793778C	CFHR3	NM_021023.6(CFHR3):c.*265G>C	noncoding	Benign
1	196820031	C	G	C196820031G	CFHR1	NM_002113.3(CFHR1):c.58+129C>G	noncoding	Benign
1	196820070	A	G	A196820070G	CFHR1	NM_002113.3(CFHR1):c.58+168A>G	noncoding	Benign
1	196825296	G	C	G196825296C	CFHR1	NM_002113.3(CFHR1):c.59-181G>C	noncoding	Benign
1	196825316	G	A	G196825316A	CFHR1	NM_002113.3(CFHR1):c.59-161G>A	noncoding	Benign
1	196825389	C	T	C196825389T	CFHR1	NM_002113.3(CFHR1):c.59-88C>T	noncoding	Benign
1	196825551	G	T	G196825551T	CFHR1	NM_002113.3(CFHR1):c.133G>T:p.Val45Phe	coding	Benign
1	196825737	G	A	G196825737A	CFHR1	NM_002113.3(CFHR1):c.253+66G>A	noncoding	Benign
1	196825779	G	C	G196825779C	CFHR1	NM_002113.3(CFHR1):c.253+108G>C	noncoding	Benign
1	196825884	G	A	G196825884A	CFHR1	NM_002113.3(CFHR1):c.253+213G>A	noncoding	Benign
1	196825888	T	G	T196825888G	CFHR1	NM_002113.3(CFHR1):c.253+217T>G	noncoding	Benign
1	196825962	G	A	G196825962A	CFHR1	NM_002113.3(CFHR1):c.253+291G>A	noncoding	Benign
1	196826611	C	T	C196826611T	CFHR1	NM_002113.3(CFHR1):c.254-218C>T	noncoding	Benign
1	196826631	C	G	C196826631G	CFHR1	NM_002113.3(CFHR1):c.254-198C>G	noncoding	Benign
1	196826714	C	T	C196826714T	CFHR1	NM_002113.3(CFHR1):c.254-115C>T	noncoding	Benign
1	196826719	A	G	A196826719G	CFHR1	NM_002113.3(CFHR1):c.254-110A>G	noncoding	Benign
1	196827054	G	A	G196827054A	CFHR1	NM_002113.3(CFHR1):c.430+49G>A	noncoding	Benign
1	196827110	T	A	T196827110A	CFHR1	NM_002113.3(CFHR1):c.430+105T>A	noncoding	Benign
1	196827231	C	T	C196827231T	CFHR1	NM_002113.3(CFHR1):c.430+226C>T	noncoding	Benign
1	196830410	T	C	T196830410C	CFHR1	NM_002113.3(CFHR1):c.608-90T>C	noncoding	Benign
1	196830561	G	A	G196830561A	CFHR1	NM_002113.3(CFHR1):c.669G>A:p.Pro223=	coding	Benign
1	196830616	C	G	C196830616G	CFHR1	NM_002113.3(CFHR1):c.724C>G:p.Gln242Glu	coding	Benign
1	196830718	A	T	A196830718T	CFHR1	NM_002113.3(CFHR1):c.790+36A>T	noncoding	Benign
1	196830719	G	C	G196830719C	CFHR1	NM_002113.3(CFHR1):c.790+37G>C	noncoding	Benign
1	196830821	T	C	T196830821C	CFHR1	NM_002113.3(CFHR1):c.790+139T>C	noncoding	Benign
1	196831912	G	T	G196831912T	CFHR1	NM_002113.3(CFHR1):c.906G>T:p.Arg302=	coding	Benign
1	196831948	A	T	A196831948T	CFHR1	NM_002113.3(CFHR1):c.942A>T:p.Arg314=	coding	Benign
1	196832060	C	A	C196832060A	CFHR1	NM_002113.3(CFHR1):c.*61C>A	noncoding	Benign
1	196832191	T	G	T196832191G	CFHR1	Single_allele	noncoding	Benign
1	196902421	T	C	T196902421C	CFHR4	NM_001201550.3(CFHR4):c.62T>C:p.Val21Ala	coding	Benign
1	196902518	C	T	C196902518T	CFHR4	NM_001201550.3(CFHR4):c.159C>T:p.Ser53=	coding	Benign
1	196902602	G	A	G196902602A	CFHR4	NM_001201550.3(CFHR4):c.243G>A:p.Thr81=	coding	Benign
1	196905128	G	A	G196905128A	CFHR4	NM_001201550.3(CFHR4):c.277G>A:p.Val93Ile	coding	Benign
1	196905199	T	A	T196905199A	CFHR4	NM_001201550.3(CFHR4):c.348T>A:p.Asn116Lys	coding	Benign
1	196905226	G	T	G196905226T	CFHR4	NM_001201550.3(CFHR4):c.375G>T:p.Glu125Asp	coding	Benign
1	196907304	A	C	A196907304C	CFHR4	NM_001201550.3(CFHR4):c.617-12A>C	noncoding	Benign
1	196907328	A	G	A196907328G	CFHR4	NM_001201550.3(CFHR4):c.629A>G:p.Asn210Ser	coding	Benign
1	196907473	C	G	C196907473G	CFHR4	NM_001201550.3(CFHR4):c.774C>G:p.Asp258Glu	coding	Benign
1	196913214	A	G	A196913214G	CFHR4	NM_001201550.3(CFHR4):c.1180+292A>G	noncoding	Benign
1	196914242	G	A	G196914242A	CFHR4	NM_001201550.3(CFHR4):c.1181-253G>A	noncoding	Benign
1	196914339	T	A	T196914339A	CFHR4	NM_001201550.3(CFHR4):c.1181-156T>A	noncoding	Benign
1	196914829	G	A	G196914829A	CFHR4	NM_001201550.3(CFHR4):c.1358-127G>A	noncoding	Benign
1	196918051	T	G	T196918051G	CFHR4	NM_001201550.3(CFHR4):c.1541-159T>G	noncoding	Benign
1	196918144	G	A	G196918144A	CFHR4	NM_001201550.3(CFHR4):c.1541-66G>A	noncoding	Benign
1	196918327	G	A	G196918327A	CFHR4	NM_001201550.3(CFHR4):c.1658G>A:p.Gly553Glu	coding	Benign
1	196943816	C	G	C196943816G	CFHR2	NM_005666.4(CFHR2):c.-65C>G	noncoding	Benign
1	196944067	C	G	C196944067G	CFHR2	NM_005666.4(CFHR2):c.58+129C>G	noncoding	Benign
1	196949609	G	A	G196949609A	CFHR2	NM_005666.4(CFHR2):c.213G>A:p.Thr71_Cys72=	coding	Benign
1	196949611	G	A	G196949611A	CFHR2	NM_005666.4(CFHR2):c.215G>A:p.Cys72Tyr	coding	Benign
1	196951018	C	T	C196951018T	CFHR2	NM_005666.4(CFHR2):c.420C>T:p.Cys140=	coding	Benign
1	196951048	C	T	C196951048T	CFHR2	NM_005666.4(CFHR2):c.430+20C>T	noncoding	Benign
1	196951169	T	A	T196951169A	CFHR2	NM_005666.4(CFHR2):c.430+141T>A	noncoding	Benign
1	196957669	C	T	C196957669T	CFHR2	NM_005666.4(CFHR2):c.431-222C>T	noncoding	Benign
1	196957826	C	T	C196957826T	CFHR2	NM_005666.4(CFHR2):c.431-65C>T	noncoding	Benign
1	196957843	C	A	C196957843A	CFHR2	NM_005666.4(CFHR2):c.431-48C>A	noncoding	Benign
1	196958298	T	G	T196958298G	CFHR2	NM_005666.4(CFHR2):c.613+225T>G	noncoding	Benign
1	196958641	T	A	T196958641A	CFHR2	NM_005666.4(CFHR2):c.614-240T>A	noncoding	Benign
1	196958658	A	G	A196958658G	CFHR2	NM_005666.4(CFHR2):c.614-223A>G	noncoding	Benign
1	196958661	G	A	G196958661A	CFHR2	NM_005666.4(CFHR2):c.614-220G>A	noncoding	Benign
1	196983138	C	T	C196983138T	CFHR5	NM_030787.4(CFHR5):c.253+59C>T	noncoding	Benign
1	196983368	C	T	C196983368T	CFHR5	NM_030787.4(CFHR5):c.253+289C>T	noncoding	Benign
1	196983778	G	A	G196983778A	CFHR5	NM_030787.4(CFHR5):c.254-183G>A	noncoding	Benign
1	196994182	A	G	A196994182G	CFHR5	NM_030787.4(CFHR5):c.533A>G:p.Asn178Ser	coding	Benign/Likely_benign
1	196998224	G	A	G196998224A	CFHR5	NM_030787.4(CFHR5):c.1067G>A:p.Arg356His	coding	Benign/Likely_benign
1	196998328	G	T	G196998328T	CFHR5	NM_030787.4(CFHR5):c.1147+24G>T	noncoding	Benign
1	197039467	A	C	A197039467C	F13B	NM_001994.3(F13B):c.1953-56T>G	noncoding	Benign
1	197040378	G	C	G197040378C	F13B	NM_001994.3(F13B):c.1952+144C>G	noncoding	Benign
1	197051189	G	A	G197051189A	F13B	NM_001994.3(F13B):c.1556-310C>T	noncoding	Benign
1	197052684	G	C	G197052684C	F13B	NM_001994.3(F13B):c.1505C>G:p.Ser502Cys	coding	Pathogenic
1	197055513	G	A	G197055513A	F13B	NM_001994.3(F13B):c.1354+202C>T	noncoding	Benign
1	197057542	A	G	A197057542G	F13B	NM_001994.3(F13B):c.806-77T>C	noncoding	Benign
1	197057716	T	A	T197057716A	F13B	NM_001994.3(F13B):c.806-251A>T	noncoding	Benign
1	197057765	A	C	A197057765C	F13B	NM_001994.3(F13B):c.806-300T>G	noncoding	Benign
1	197060215	G	A	G197060215A	F13B	NM_001994.3(F13B):c.805+151C>T	noncoding	Benign
1	197060962	C	A	C197060962A	F13B	NM_001994.3(F13B):c.565G>T:p.Gly189Ter	coding	Pathogenic
1	197061187	A	G	A197061187G	F13B	NM_001994.3(F13B):c.452-112T>C	noncoding	Benign
1	197061699	A	T	A197061699T	F13B	NM_001994.3(F13B):c.451+85T>A	noncoding	Benign
1	197063215	C	G	C197063215G	F13B	NM_001994.3(F13B):c.65-158G>C	noncoding	Benign
1	197084011	T	C	T197084011C	ASPM	Single_allele	noncoding	Benign
1	197086785	C	T	C197086785T	ASPM	NM_018136.5(ASPM):c.10331+18G>A	noncoding	Benign/Likely_benign
1	197088112	T	A	T197088112A	ASPM	NM_018136.5(ASPM):c.10161+144A>T	noncoding	Benign
1	197090040	G	A	G197090040A	ASPM	NM_018136.5(ASPM):c.9874C>T:p.Gln3292Ter	coding	Pathogenic
1	197090102	C	A	C197090102A	ASPM	NM_018136.5(ASPM):c.9830-18G>T	noncoding	Benign
1	197090366	C	T	C197090366T	ASPM	NM_018136.5(ASPM):c.9659G>A:p.Trp3220Ter	coding	Pathogenic
1	197090380	C	T	C197090380T	ASPM	NM_018136.5(ASPM):c.9645G>A:p.Trp3215Ter	coding	Pathogenic
1	197090384	A	T	A197090384T	ASPM	NM_018136.5(ASPM):c.9641T>A:p.Leu3214Ter	coding	Pathogenic
1	197091036	C	T	C197091036T	ASPM	NM_018136.5(ASPM):c.9450G>A:p.Trp3150Ter	coding	Pathogenic
1	197093060	G	A	G197093060A	ASPM	NM_018136.5(ASPM):c.9286C>T:p.Arg3096Ter	coding	Pathogenic
1	197096093	C	T	C197096093T	ASPM	NM_018136.5(ASPM):c.8892G>A:p.Trp2964Ter	coding	Pathogenic
1	197101060	C	A	C197101060A	ASPM	NM_018136.5(ASPM):c.8191G>T:p.Glu2731Ter	coding	Pathogenic
1	197101258	G	A	G197101258A	ASPM	NM_018136.5(ASPM):c.7993C>T:p.Arg2665Cys	coding	Benign
1	197102122	G	A	G197102122A	ASPM	NM_018136.5(ASPM):c.7129C>T:p.Gln2377Ter	coding	Pathogenic
1	197102146	G	A	G197102146A	ASPM	NM_018136.5(ASPM):c.7105C>T:p.Gln2369Ter	coding	Pathogenic
1	197102202	A	T	A197102202T	ASPM	NM_018136.5(ASPM):c.7049T>A:p.Leu2350Ter	coding	Pathogenic
1	197102257	G	A	G197102257A	ASPM	NM_018136.5(ASPM):c.6994C>T:p.Arg2332Ter	coding	Pathogenic
1	197102543	A	T	A197102543T	ASPM	NM_018136.5(ASPM):c.6708T>A:p.Tyr2236Ter	coding	Pathogenic
1	197103356	T	C	T197103356C	ASPM	NM_018136.5(ASPM):c.5895A>G:p.Arg1965=	coding	Benign
1	197104544	G	T	G197104544T	ASPM	NM_018136.5(ASPM):c.4707C>A:p.Tyr1569Ter	coding	Pathogenic
1	197104639	G	A	G197104639A	ASPM	NM_018136.5(ASPM):c.4612C>T:p.Arg1538Ter	coding	Pathogenic
1	197104837	G	A	G197104837A	ASPM	NM_018136.5(ASPM):c.4414C>T:p.Gln1472Ter	coding	Pathogenic
1	197104870	G	A	G197104870A	ASPM	NM_018136.5(ASPM):c.4381C>T:p.Gln1461Ter	coding	Pathogenic
1	197105038	G	A	G197105038A	ASPM	NM_018136.5(ASPM):c.4213C>T:p.Arg1405Cys	coding	Benign/Likely_benign
1	197124702	T	C	T197124702C	ASPM	NM_018136.5(ASPM):c.3168+168A>G	noncoding	Benign
1	197129186	C	T	C197129186T	ASPM	NM_018136.5(ASPM):c.2760+1G>A	noncoding	Pathogenic
1	197142463	G	A	G197142463A	ASPM	NM_018136.5(ASPM):c.1789C>T:p.Arg597Ter	coding	Pathogenic
1	197143525	G	A	G197143525A	ASPM	NM_018136.5(ASPM):c.727C>T:p.Arg243Ter	coding	Pathogenic
1	197328458	C	A	C197328458A	CRB1	NM_201253.3(CRB1):c.107C>A:p.Ser36Ter	coding	Pathogenic
1	197328709	C	T	C197328709T	CRB1	NM_201253.3(CRB1):c.358C>T:p.Gln120Ter	coding	Pathogenic
1	197328916	G	T	G197328916T	CRB1	NM_201253.3(CRB1):c.565G>T:p.Glu189Ter	coding	Pathogenic
1	197329004	G	A	G197329004A	CRB1	NM_201253.3(CRB1):c.652+1G>A	coding	Pathogenic/Likely_pathogenic
1	197329243	T	C	T197329243C	CRB1	NM_201253.3(CRB1):c.652+240T>C	noncoding	Benign
1	197344280	G	A	G197344280A	CRB1	NM_201253.3(CRB1):c.653-1G>A	noncoding	Pathogenic
1	197344280	G	T	G197344280T	CRB1	NM_201253.3(CRB1):c.653-1G>T	noncoding	Pathogenic/Likely_pathogenic
1	197344346	C	T	C197344346T	CRB1	NM_201253.3(CRB1):c.718C>T:p.Gln240Ter	coding	Pathogenic
1	197344378	T	A	T197344378A	CRB1	NM_201253.3(CRB1):c.750T>A:p.Cys250Ter	coding	Pathogenic
1	197344477	G	A	G197344477A	CRB1	NM_201253.3(CRB1):c.848+1G>A	coding	Pathogenic
1	197344609	A	G	A197344609G	CRB1	NM_201253.3(CRB1):c.848+133A>G	noncoding	Benign
1	197347109	C	G	C197347109G	CRB1	NM_201253.3(CRB1):c.849-231C>G	noncoding	Benign
1	197347278	T	G	T197347278G	CRB1	NM_201253.3(CRB1):c.849-62T>G	noncoding	Benign
1	197347343	T	A	T197347343A	CRB1	NM_201253.3(CRB1):c.852T>A:p.Tyr284Ter	coding	Pathogenic
1	197347514	C	T	C197347514T	CRB1	NM_201253.3(CRB1):c.988+35C>T	noncoding	Benign
1	197347527	T	C	T197347527C	CRB1	NM_201253.3(CRB1):c.988+48T>C	noncoding	Benign
1	197347634	A	G	A197347634G	CRB1	NM_201253.3(CRB1):c.988+155A>G	noncoding	Benign
1	197356720	C	G	C197356720G	CRB1	NM_201253.3(CRB1):c.989-111C>G	noncoding	Benign
1	197356778	T	G	T197356778G	CRB1	NM_201253.3(CRB1):c.989-53T>G	noncoding	Benign
1	197356899	G	T	G197356899T	CRB1	NM_201253.3(CRB1):c.1057G>T:p.Glu353Ter	coding	Pathogenic
1	197357129	G	A	G197357129A	CRB1	NM_201253.3(CRB1):c.1171+116G>A	noncoding	Benign
1	197421177	G	A	G197421177A	CRB1	NM_201253.3(CRB1):c.1349G>A:p.Cys450Tyr	coding	Pathogenic
1	197421267	G	C	G197421267C	CRB1	NM_201253.3(CRB1):c.1439G>C:p.Cys480Ser	coding	Pathogenic
1	197421479	C	T	C197421479T	CRB1	NM_201253.3(CRB1):c.1651C>T:p.Gln551Ter	coding	Pathogenic
1	197421528	G	A	G197421528A	CRB1	NM_201253.3(CRB1):c.1700G>A:p.Trp567Ter	coding	Pathogenic
1	197421659	T	C	T197421659C	CRB1	NM_201253.3(CRB1):c.1831T>C:p.Ser611Pro	coding	Pathogenic
1	197421741	C	T	C197421741T	CRB1	NM_201253.3(CRB1):c.1913C>T:p.Ser638Leu	coding	Pathogenic
1	197421825	T	A	T197421825A	CRB1	NM_201253.3(CRB1):c.1997T>A:p.Val666Asp	coding	Pathogenic
1	197421910	C	A	C197421910A	CRB1	NM_201253.3(CRB1):c.2082C>A:p.Tyr694Ter	coding	Pathogenic
1	197427547	T	C	T197427547C	CRB1	NM_201253.3(CRB1):c.2222T>C:p.Met741Thr	coding	Pathogenic/Likely_pathogenic
1	197427574	G	T	G197427574T	CRB1	NM_201253.3(CRB1):c.2249G>T:p.Gly750Val	coding	Pathogenic
1	197427577	T	A	T197427577A	CRB1	NM_201253.3(CRB1):c.2252T>A:p.Leu751Ter	coding	Pathogenic
1	197427625	T	C	T197427625C	CRB1	NM_201253.3(CRB1):c.2300T>C:p.Leu767Pro	coding	Pathogenic
1	197427718	T	A	T197427718A	CRB1	NM_201253.3(CRB1):c.2393T>A:p.Leu798Ter	coding	Pathogenic
1	197427826	G	A	G197427826A	CRB1	NM_201253.3(CRB1):c.2501G>A:p.Gly834Asp	coding	Pathogenic/Likely_pathogenic
1	197427861	G	A	G197427861A	CRB1	NM_201253.3(CRB1):c.2536G>A:p.Gly846Arg	coding	Pathogenic
1	197427874	G	T	G197427874T	CRB1	NM_201253.3(CRB1):c.2549G>T:p.Gly850Val	coding	Pathogenic
1	197428956	A	G	A197428956G	CRB1	NM_201253.3(CRB1):c.2677-493A>G	noncoding	Benign
1	197429320	C	A	C197429320A	CRB1	NM_201253.3(CRB1):c.2677-129C>A	noncoding	Benign
1	197429490	G	A	G197429490A	CRB1	NM_201253.3(CRB1):c.2718G>A:p.Trp906Ter	coding	Pathogenic
1	197429539	G	T	G197429539T	CRB1	NM_201253.3(CRB1):c.2767G>T:p.Glu923Ter	coding	Pathogenic
1	197429590	C	T	C197429590T	CRB1	NM_201253.3(CRB1):c.2818C>T:p.Gln940Ter	coding	Pathogenic
1	197429619	G	A	G197429619A	CRB1	NM_201253.3(CRB1):c.2842+5G>A	noncoding	Pathogenic/Likely_pathogenic
1	197434732	C	T	C197434732T	CRB1	NM_201253.3(CRB1):c.2869C>T:p.Gln957Ter	coding	Pathogenic
1	197434965	G	A	G197434965A	CRB1	NM_201253.3(CRB1):c.3102G>A:p.Trp1034Ter	coding	Pathogenic
1	197434984	A	G	A197434984G	CRB1	NM_201253.3(CRB1):c.3121A>G:p.Met1041Val	coding	Pathogenic
1	197435034	C	T	C197435034T	CRB1	NM_201253.3(CRB1):c.3171C>T:p.Asn1057=	coding	Benign/Likely_benign
1	197435084	T	C	T197435084C	CRB1	NM_201253.3(CRB1):c.3221T>C:p.Leu1074Ser	coding	Pathogenic
1	197435224	C	T	C197435224T	CRB1	NM_201253.3(CRB1):c.3361C>T:p.Gln1121Ter	coding	Pathogenic
1	197435282	T	A	T197435282A	CRB1	NM_201253.3(CRB1):c.3419T>A:p.Leu1140Ter	coding	Pathogenic
1	197435305	T	C	T197435305C	CRB1	NM_201253.3(CRB1):c.3442T>C:p.Cys1148Arg	coding	Pathogenic
1	197435314	G	T	G197435314T	CRB1	NM_201253.3(CRB1):c.3451G>T:p.Gly1151Ter	coding	Pathogenic/Likely_pathogenic
1	197438309	C	T	C197438309T	CRB1	NM_201253.3(CRB1):c.3750-238C>T	noncoding	Benign
1	197438584	A	T	A197438584T	CRB1	NM_201253.3(CRB1):c.3787A>T:p.Lys1263Ter	coding	Pathogenic
1	197438675	G	A	G197438675A	CRB1	NM_201253.3(CRB1):c.3878G>A:p.Trp1293Ter	coding	Pathogenic/Likely_pathogenic
1	197438812	A	G	A197438812G	CRB1	NM_201253.3(CRB1):c.3878+137A>G	noncoding	Benign
1	197442245	C	T	C197442245T	CRB1	NM_201253.3(CRB1):c.3958C>T:p.Gln1320Ter	coding	Pathogenic
1	197442275	G	T	G197442275T	CRB1	NM_201253.3(CRB1):c.3988G>T:p.Glu1330Ter	coding	Pathogenic
1	197442294	T	C	T197442294C	CRB1	NM_201253.3(CRB1):c.4005+2T>C	coding	Pathogenic
1	197477572	G	T	G197477572T	CRB1	NM_201253.3(CRB1):c.4006-92G>T	noncoding	Benign
1	197477663	G	T	G197477663T	CRB1	NM_201253.3(CRB1):c.4006-1G>T	noncoding	Pathogenic
1	197477795	C	G	C197477795G	CRB1	NM_201253.3(CRB1):c.4137C>G:p.Tyr1379Ter	coding	Pathogenic
1	197477800	C	T	C197477800T	CRB1	NM_201253.3(CRB1):c.4142C>T:p.Pro1381Leu	coding	Pathogenic
1	198692077	T	G	T198692077G	PTPRC	NM_002838.5(PTPRC):c.74-270T>G	noncoding	Benign
1	198693776	A	G	A198693776G	PTPRC	NM_002838.5(PTPRC):c.100+1403A>G	noncoding	Benign
1	198697103	A	G	A198697103G	PTPRC	NM_002838.5(PTPRC):c.298+194A>G	noncoding	Benign
1	198699573	C	G	C198699573G	PTPRC	NM_002838.5(PTPRC):c.308C>G:p.Ser103Ter	coding	Pathogenic
1	198703011	C	T	C198703011T	PTPRC	NM_002838.5(PTPRC):c.584-287C>T	noncoding	Benign
1	198703022	G	C	G198703022C	PTPRC	NM_002838.5(PTPRC):c.584-276G>C	noncoding	Benign
1	198703170	T	C	T198703170C	PTPRC	NM_002838.5(PTPRC):c.584-128T>C	noncoding	Benign
1	198704454	T	C	T198704454C	PTPRC	NM_002838.5(PTPRC):c.659-18T>C	noncoding	Benign
1	198706554	T	C	T198706554C	PTPRC	NM_002838.5(PTPRC):c.686-180T>C	noncoding	Benign
1	198708277	T	C	T198708277C	PTPRC	NM_002838.5(PTPRC):c.1033+16T>C	noncoding	Benign
1	198708291	T	A	T198708291A	PTPRC	NM_002838.5(PTPRC):c.1033+30T>A	noncoding	Benign
1	198717996	A	G	A198717996G	PTPRC	NM_002838.5(PTPRC):c.1451-98A>G	noncoding	Benign
1	198722597	G	A	G198722597A	PTPRC	NM_002838.5(PTPRC):c.1720+121G>A	noncoding	Benign
1	198731313	G	A	G198731313A	PTPRC	NM_002838.5(PTPRC):c.1865-304G>A	noncoding	Benign
1	198732160	T	C	T198732160C	PTPRC	NM_002838.5(PTPRC):c.1975-140T>C	noncoding	Benign
1	198734177	C	T	C198734177T	PTPRC	NM_002838.5(PTPRC):c.2143-19C>T	noncoding	Benign
1	198735165	C	T	C198735165T	PTPRC	NM_002838.5(PTPRC):c.2316C>T:p.Gly772=	coding	Benign
1	198735436	C	T	C198735436T	PTPRC	NM_002838.5(PTPRC):c.2403+184C>T	noncoding	Benign
1	198742614	A	G	A198742614G	PTPRC	NM_002838.5(PTPRC):c.2697+247A>G	noncoding	Benign
1	198749183	T	C	T198749183C	PTPRC	NM_002838.5(PTPRC):c.2939-233T>C	noncoding	Benign
1	198749563	T	C	T198749563C	PTPRC	NM_002838.5(PTPRC):c.3072+14T>C	noncoding	Benign
1	198749821	A	G	A198749821G	PTPRC	NM_002838.5(PTPRC):c.3072+272A>G	noncoding	Benign
1	198750844	T	C	T198750844C	PTPRC	NM_002838.5(PTPRC):c.3207+218T>C	noncoding	Benign
1	198752063	T	C	T198752063C	PTPRC	NM_002838.5(PTPRC):c.3208-186T>C	noncoding	Benign
1	198754608	G	A	G198754608A	PTPRC	NM_002838.5(PTPRC):c.3645+204G>A	noncoding	Benign
1	198807802	C	A	C198807802A	MIR181A1HG	NC_000001.11:g.198807802C>A	noncoding	Benign
1	198826991	C	T	C198826991T	MIR181A1HG	NR_040073.1(MIR181A1HG):n.364-18748G>A	noncoding	Benign
1	198898549	G	T	G198898549T	MIR181A1HG	NR_040073.1(MIR181A1HG):n.363+1862C>A	noncoding	Benign
1	198898955	G	A	G198898955A	MIR181A1HG	NR_040073.1(MIR181A1HG):n.363+1456C>T	noncoding	Benign
1	198900385	T	C	T198900385C	MIR181A1HG	NR_040073.1(MIR181A1HG):n.363+26A>G	noncoding	Benign
1	200553141	G	A	G200553141A	KIF14	NM_014875.3(KIF14):c.*247C>T	noncoding	Benign
1	200553157	C	T	C200553157T	KIF14	NM_014875.3(KIF14):c.*231G>A	noncoding	Benign
1	200553223	A	T	A200553223T	KIF14	NM_014875.3(KIF14):c.*165T>A	noncoding	Benign
1	200553438	G	C	G200553438C	KIF14	NM_014875.3(KIF14):c.4897C>G:p.Pro1633Ala	coding	Benign
1	200554386	A	G	A200554386G	KIF14	NM_014875.3(KIF14):c.4567+82T>C	noncoding	Benign
1	200559212	A	G	A200559212G	KIF14	NM_014875.3(KIF14):c.4353+118T>C	noncoding	Benign
1	200559466	T	C	T200559466C	KIF14	NM_014875.3(KIF14):c.4231-14A>G	noncoding	Benign
1	200564881	A	G	A200564881G	KIF14	NM_014875.3(KIF14):c.4071+188T>C	noncoding	Benign
1	200565120	C	T	C200565120T	KIF14	NM_014875.3(KIF14):c.4020G>A:p.Glu1340=	coding	Benign
1	200569757	C	T	C200569757T	KIF14	NM_014875.3(KIF14):c.3661+154G>A	noncoding	Benign
1	200569834	G	A	G200569834A	KIF14	NM_014875.3(KIF14):c.3661+77C>T	noncoding	Benign
1	200580323	T	C	T200580323C	KIF14	NM_014875.3(KIF14):c.3396A>G:p.Leu1132=	coding	Benign
1	200580462	T	C	T200580462C	KIF14	NM_014875.3(KIF14):c.3336-79A>G	noncoding	Benign
1	200585919	T	C	T200585919C	KIF14	NM_014875.3(KIF14):c.3241+182A>G	noncoding	Benign
1	200585946	C	G	C200585946G	KIF14	NM_014875.3(KIF14):c.3241+155G>C	noncoding	Benign
1	200586075	G	T	G200586075T	KIF14	NM_014875.3(KIF14):c.3241+26C>A	noncoding	Benign
1	200586354	C	T	C200586354T	KIF14	NM_014875.3(KIF14):c.3115-127G>A	noncoding	Benign
1	200589235	T	C	T200589235C	KIF14	NM_014875.3(KIF14):c.3096A>G:p.Glu1032=	coding	Benign
1	200589656	G	A	G200589656A	KIF14	NM_014875.3(KIF14):c.2962-287C>T	noncoding	Benign
1	200590352	G	C	G200590352C	KIF14	NM_014875.3(KIF14):c.2814-80C>G	noncoding	Benign
1	200591939	T	C	T200591939C	KIF14	NM_014875.3(KIF14):c.2813+141A>G	noncoding	Benign
1	200592328	T	C	T200592328C	KIF14	NM_014875.3(KIF14):c.2653-88A>G	noncoding	Benign
1	200593366	G	A	G200593366A	KIF14	NM_014875.3(KIF14):c.2652+301C>T	noncoding	Benign
1	200593385	C	T	C200593385T	KIF14	NM_014875.3(KIF14):c.2652+282G>A	noncoding	Benign
1	200598216	T	C	T200598216C	KIF14	NM_014875.3(KIF14):c.2549+21A>G	noncoding	Benign
1	200598225	G	A	G200598225A	KIF14	NM_014875.3(KIF14):c.2549+12C>T	noncoding	Benign
1	200598468	T	G	T200598468G	KIF14	NM_014875.3(KIF14):c.2365-47A>C	noncoding	Benign
1	200600264	C	A	C200600264A	KIF14	NM_014875.3(KIF14):c.2300+92G>T	noncoding	Benign
1	200601912	G	A	G200601912A	KIF14	NM_014875.3(KIF14):c.2136C>T:p.Asn712=	coding	Benign/Likely_benign
1	200602071	A	G	A200602071G	KIF14	NM_014875.3(KIF14):c.1980-3T>C	noncoding	Benign
1	200602923	A	T	A200602923T	KIF14	NM_014875.3(KIF14):c.1979+303T>A	noncoding	Benign
1	200605831	T	C	T200605831C	KIF14	NM_014875.3(KIF14):c.1638+33A>G	noncoding	Benign
1	200606128	G	A	G200606128A	KIF14	NM_014875.3(KIF14):c.1608-234C>T	noncoding	Benign
1	200606666	A	G	A200606666G	KIF14	NM_014875.3(KIF14):c.1607+80T>C	noncoding	Benign
1	200608965	G	A	G200608965A	KIF14	NM_014875.3(KIF14):c.1456-37C>T	noncoding	Benign
1	200609091	T	C	T200609091C	KIF14	NM_014875.3(KIF14):c.1456-163A>G	noncoding	Benign
1	200614252	T	G	T200614252G	KIF14	NM_014875.3(KIF14):c.1455+66A>C	noncoding	Benign
1	200615149	A	T	A200615149T	KIF14	NM_014875.3(KIF14):c.1367+206T>A	noncoding	Benign
1	200615347	C	T	C200615347T	KIF14	NM_014875.3(KIF14):c.1367+8G>A	noncoding	Benign/Likely_benign
1	200644255	C	A	C200644255A	DDX59	NM_001031725.6(DDX59):c.1859G>T:p.Ter620Leu	coding	Pathogenic
1	200644482	T	C	T200644482C	DDX59	NM_001031725.6(DDX59):c.1632A>G:p.Thr544=	coding	Benign
1	200648405	G	T	G200648405T	DDX59	NM_001031725.6(DDX59):c.1596+34C>A	noncoding	Benign
1	200648579	A	C	A200648579C	DDX59	NM_001031725.6(DDX59):c.1468-12T>G	noncoding	Benign
1	200649110	T	C	T200649110C	DDX59	NM_001031725.6(DDX59):c.1431A>G:p.Ser477=	coding	Benign
1	200649230	A	C	A200649230C	DDX59	NM_001031725.6(DDX59):c.1315-4T>G	noncoding	Benign
1	200650205	A	T	A200650205T	DDX59	NM_001031725.6(DDX59):c.1314+220T>A	noncoding	Benign
1	200650350	C	A	C200650350A	DDX59	NM_001031725.6(DDX59):c.1314+75G>T	noncoding	Benign
1	200650402	T	C	T200650402C	DDX59	NM_001031725.6(DDX59):c.1314+23A>G	noncoding	Benign
1	200658836	G	A	G200658836A	DDX59	NM_001031725.6(DDX59):c.1062+191C>T	noncoding	Benign
1	200663762	C	T	C200663762T	DDX59	NM_001031725.6(DDX59):c.972+157G>A	noncoding	Benign
1	200663832	T	C	T200663832C	DDX59	NM_001031725.6(DDX59):c.972+87A>G	noncoding	Benign
1	200663838	A	G	A200663838G	DDX59	NM_001031725.6(DDX59):c.972+81T>C	noncoding	Benign
1	200666422	T	C	T200666422C	DDX59	NM_001031725.6(DDX59):c.319A>G:p.Ile107Val	coding	Benign
1	200666432	T	C	T200666432C	DDX59	NM_001031725.6(DDX59):c.309A>G:p.Pro103=	coding	Benign
1	200666489	G	A	G200666489A	DDX59	NM_001031725.6(DDX59):c.252C>T:p.Ser84=	coding	Benign
1	200974929	G	A	G200974929A	KIF21B	NM_001252102.2(KIF21B):c.4615-16C>T	noncoding	Benign
1	200990174	G	A	G200990174A	KIF21B	NM_001252102.2(KIF21B):c.2994C>T:p.Asp998=	coding	Benign
1	200998559	C	G	C200998559G	KIF21B	NM_001252102.2(KIF21B):c.1902G>C:p.Ala634=	coding	Benign
1	201040101	G	A	G201040101A	CACNA1S	NM_000069.3(CACNA1S):c.5371-19C>T	noncoding	Benign/Likely_benign
1	201040372	G	T	G201040372T	CACNA1S	NM_000069.3(CACNA1S):c.5229C>A:p.Cys1743Ter	coding	Pathogenic
1	201048474	T	G	T201048474G	CACNA1S	NM_000069.3(CACNA1S):c.4441+108A>C	noncoding	Benign
1	201048990	C	A	C201048990A	CACNA1S	NM_000069.3(CACNA1S):c.4338+13G>T	noncoding	Benign
1	201049334	T	G	T201049334G	CACNA1S	NM_000069.3(CACNA1S):c.4242-235A>C	noncoding	Benign
1	201050457	C	T	C201050457T	CACNA1S	NM_000069.3(CACNA1S):c.4173G>A:p.Trp1391Ter	coding	Pathogenic
1	201050868	G	A	G201050868A	CACNA1S	NM_000069.3(CACNA1S):c.4113+116C>T	noncoding	Benign
1	201053529	C	T	C201053529T	CACNA1S	NM_000069.3(CACNA1S):c.3725G>A:p.Arg1242Lys	coding	Pathogenic
1	201053530	T	C	T201053530C	CACNA1S	NM_000069.3(CACNA1S):c.3724A>G:p.Arg1242Gly	coding	Pathogenic
1	201054308	C	T	C201054308T	CACNA1S	NM_000069.3(CACNA1S):c.3666+197G>A	noncoding	Benign
1	201059338	G	A	G201059338A	CACNA1S	NM_000069.3(CACNA1S):c.3415-39C>T	noncoding	Benign
1	201061010	G	A	G201061010A	CACNA1S	NM_000069.3(CACNA1S):c.3256-194C>T	noncoding	Benign
1	201061860	C	T	C201061860T	CACNA1S	NM_000069.3(CACNA1S):c.3053+84G>A	noncoding	Benign
1	201062075	C	T	C201062075T	CACNA1S	NM_000069.3(CACNA1S):c.2922G>A:p.Val974=	coding	Benign
1	201062179	A	C	A201062179C	CACNA1S	NM_000069.3(CACNA1S):c.2907-89T>G	noncoding	Benign
1	201062445	C	T	C201062445T	CACNA1S	NM_000069.3(CACNA1S):c.2906+17G>A	noncoding	Benign/Likely_benign
1	201065739	G	A	G201065739A	CACNA1S	NM_000069.3(CACNA1S):c.2853+99C>T	noncoding	Benign
1	201065970	A	G	A201065970G	CACNA1S	NM_000069.3(CACNA1S):c.2746-25T>C	noncoding	Benign
1	201066274	C	G	C201066274G	CACNA1S	NM_000069.3(CACNA1S):c.2700G>C:p.Arg900Ser	coding	Pathogenic
1	201066283	C	G	C201066283G	CACNA1S	NM_000069.3(CACNA1S):c.2691G>C:p.Arg897Ser	coding	Pathogenic
1	201069120	C	T	C201069120T	CACNA1S	NM_000069.3(CACNA1S):c.2550+17G>A	noncoding	Benign
1	201070363	G	A	G201070363A	CACNA1S	NM_000069.3(CACNA1S):c.2269C>T:p.Arg757Ter	coding	Pathogenic
1	201072534	T	C	T201072534C	CACNA1S	NM_000069.3(CACNA1S):c.2227+221A>G	noncoding	Benign
1	201073025	C	T	C201073025T	CACNA1S	NM_000069.3(CACNA1S):c.2158-201G>A	noncoding	Benign
1	201074188	C	T	C201074188T	CACNA1S	NM_000069.3(CACNA1S):c.2063+318G>A	noncoding	Benign
1	201075175	G	A	G201075175A	CACNA1S	NM_000069.3(CACNA1S):c.1948+320C>T	noncoding	Benign
1	201075449	A	C	A201075449C	CACNA1S	NM_000069.3(CACNA1S):c.1948+46T>G	noncoding	Benign
1	201075455	T	C	T201075455C	CACNA1S	NM_000069.3(CACNA1S):c.1948+40A>G	noncoding	Benign
1	201075553	C	T	C201075553T	CACNA1S	NM_000069.3(CACNA1S):c.1890G>A:p.Pro630=	coding	Benign/Likely_benign
1	201076897	G	T	G201076897T	CACNA1S	NM_000069.3(CACNA1S):c.1827+23C>A	noncoding	Benign
1	201077416	C	T	C201077416T	CACNA1S	NM_000069.3(CACNA1S):c.1620-289G>A	noncoding	Benign
1	201077819	C	T	C201077819T	CACNA1S	NM_000069.3(CACNA1S):c.1619+60G>A	noncoding	Benign
1	201083151	T	A	T201083151A	CACNA1S	NM_000069.3(CACNA1S):c.1393+11A>T	noncoding	Benign/Likely_benign
1	201083321	G	A	G201083321A	CACNA1S	NM_000069.3(CACNA1S):c.1234C>T:p.Arg412Ter	coding	Pathogenic
1	201083346	T	C	T201083346C	CACNA1S	NM_000069.3(CACNA1S):c.1233-24A>G	noncoding	Benign
1	201083434	G	T	G201083434T	CACNA1S	NM_000069.3(CACNA1S):c.1233-112C>A	noncoding	Benign
1	201083593	C	T	C201083593T	CACNA1S	NM_000069.3(CACNA1S):c.1233-271G>A	noncoding	Benign
1	201085610	G	A	G201085610A	CACNA1S	NM_000069.3(CACNA1S):c.1005-29C>T	noncoding	Benign
1	201087993	C	T	C201087993T	CACNA1S	NM_000069.3(CACNA1S):c.901-64G>A	noncoding	Benign
1	201089244	G	A	G201089244A	CACNA1S	NM_000069.3(CACNA1S):c.900+14C>T	noncoding	Benign/Likely_benign
1	201110404	C	T	C201110404T	CACNA1S	NM_000069.3(CACNA1S):c.153-135G>A	noncoding	Benign
1	201111886	G	A	G201111886A	CACNA1S	NM_000069.3(CACNA1S):c.152+302C>T	noncoding	Benign
1	201112191	C	T	C201112191T	CACNA1S	NM_000069.3(CACNA1S):c.149G>A:p.Trp50Ter	coding	Pathogenic
1	201283337	C	A	C201283337A	PKP1	Single_allele	noncoding	Benign
1	201283991	C	G	C201283991G	PKP1	NM_001005337.3(PKP1):c.202+87C>G	noncoding	Benign
1	201284153	A	G	A201284153G	PKP1	NM_001005337.3(PKP1):c.202+249A>G	noncoding	Benign
1	201293627	G	T	G201293627T	PKP1	NM_001005337.3(PKP1):c.203-315G>T	noncoding	Benign
1	201293798	C	T	C201293798T	PKP1	NM_001005337.3(PKP1):c.203-144C>T	noncoding	Benign
1	201294202	C	G	C201294202G	PKP1	NM_001005337.3(PKP1):c.306+157C>G	noncoding	Benign
1	201313039	C	G	C201313039G	PKP1	NM_001005337.3(PKP1):c.307-127C>G	noncoding	Benign
1	201316271	G	A	G201316271A	PKP1	NM_001005337.3(PKP1):c.702-282G>A	noncoding	Benign
1	201316781	A	G	A201316781G	PKP1	NM_001005337.3(PKP1):c.846+84A>G	noncoding	Benign
1	201316857	A	G	A201316857G	PKP1	NM_001005337.3(PKP1):c.846+160A>G	noncoding	Benign
1	201317500	C	G	C201317500G	PKP1	NM_001005337.3(PKP1):c.847-72C>G	noncoding	Benign
1	201317550	C	T	C201317550T	PKP1	NM_001005337.3(PKP1):c.847-22C>T	noncoding	Benign
1	201318401	T	C	T201318401C	PKP1	NM_001005337.3(PKP1):c.1055-217T>C	noncoding	Benign
1	201318879	G	A	G201318879A	PKP1	NM_001005337.3(PKP1):c.1232+84G>A	noncoding	Benign
1	201318904	C	T	C201318904T	PKP1	NM_001005337.3(PKP1):c.1232+109C>T	noncoding	Benign
1	201319540	G	A	G201319540A	PKP1	NM_001005337.3(PKP1):c.1233-727G>A	noncoding	Benign
1	201319770	A	C	A201319770C	PKP1	NM_001005337.3(PKP1):c.1233-497A>C	noncoding	Benign
1	201319827	G	A	G201319827A	PKP1	NM_001005337.3(PKP1):c.1233-440G>A	coding	Benign
1	201320047	G	A	G201320047A	PKP1	NM_001005337.3(PKP1):c.1233-220G>A	noncoding	Benign
1	201320417	G	A	G201320417A	PKP1	NM_001005337.3(PKP1):c.1347+36G>A	noncoding	Benign
1	201320518	T	C	T201320518C	PKP1	NM_001005337.3(PKP1):c.1347+137T>C	noncoding	Benign
1	201320563	C	A	C201320563A	PKP1	NM_001005337.3(PKP1):c.1347+182C>A	noncoding	Benign
1	201320575	C	A	C201320575A	PKP1	NM_001005337.3(PKP1):c.1347+194C>A	noncoding	Benign
1	201321662	T	A	T201321662A	PKP1	NM_001005337.3(PKP1):c.1348-316T>A	noncoding	Benign
1	201321840	T	G	T201321840G	PKP1	NM_001005337.3(PKP1):c.1348-138T>G	noncoding	Benign
1	201321857	C	T	C201321857T	PKP1	NM_001005337.3(PKP1):c.1348-121C>T	noncoding	Benign
1	201321938	C	T	C201321938T	PKP1	NM_001005337.3(PKP1):c.1348-40C>T	noncoding	Benign
1	201322155	C	T	C201322155T	PKP1	NM_001005337.3(PKP1):c.1503+22C>T	noncoding	Benign
1	201322423	G	A	G201322423A	PKP1	NM_001005337.3(PKP1):c.1503+290G>A	noncoding	Benign
1	201322717	T	C	T201322717C	PKP1	NM_001005337.3(PKP1):c.1504-296T>C	noncoding	Benign
1	201322889	G	A	G201322889A	PKP1	NM_001005337.3(PKP1):c.1504-124G>A	noncoding	Benign
1	201322908	T	C	T201322908C	PKP1	NM_001005337.3(PKP1):c.1504-105T>C	noncoding	Benign
1	201322964	C	T	C201322964T	PKP1	NM_001005337.3(PKP1):c.1504-49C>T	noncoding	Benign
1	201322982	T	C	T201322982C	PKP1	NM_001005337.3(PKP1):c.1504-31T>C	noncoding	Benign
1	201323345	G	T	G201323345T	PKP1	NM_001005337.3(PKP1):c.1680+156G>T	noncoding	Benign
1	201323360	C	T	C201323360T	PKP1	NM_001005337.3(PKP1):c.1680+171C>T	noncoding	Benign
1	201324126	C	A	C201324126A	PKP1	NM_001005337.3(PKP1):c.1681-302C>A	noncoding	Benign
1	201324842	C	T	C201324842T	PKP1	NM_001005337.3(PKP1):c.1835-99C>T	noncoding	Benign
1	201324857	G	A	G201324857A	PKP1	NM_001005337.3(PKP1):c.1835-84G>A	noncoding	Benign
1	201325143	C	T	C201325143T	PKP1	NM_001005337.3(PKP1):c.2021+16C>T	noncoding	Benign
1	201325150	G	A	G201325150A	PKP1	NM_001005337.3(PKP1):c.2021+23G>A	noncoding	Benign
1	201325290	C	T	C201325290T	PKP1	NM_001005337.3(PKP1):c.2021+163C>T	noncoding	Benign
1	201325361	C	T	C201325361T	PKP1	NM_001005337.3(PKP1):c.2021+234C>T	noncoding	Benign
1	201325464	T	C	T201325464C	PKP1	NM_001005337.3(PKP1):c.2022-290T>C	noncoding	Benign
1	201325494	G	A	G201325494A	PKP1	NM_001005337.3(PKP1):c.2022-260G>A	noncoding	Benign
1	201325738	C	T	C201325738T	PKP1	NM_001005337.3(PKP1):c.2022-16C>T	noncoding	Benign
1	201325979	C	T	C201325979T	PKP1	NM_001005337.3(PKP1):c.2106+141C>T	noncoding	Benign
1	201328539	C	A	C201328539A	PKP1	NM_001005337.3(PKP1):c.2107-223C>A	noncoding	Benign
1	201359030	T	A	T201359030A	TNNT2	NM_001276345.2(TNNT2):c.*180A>T	noncoding	Benign
1	201359040	G	C	G201359040C	TNNT2	NM_001276345.2(TNNT2):c.*170C>G	noncoding	Benign
1	201359060	G	A	G201359060A	TNNT2	NM_001276345.2(TNNT2):c.*150C>T	noncoding	Benign
1	201359087	G	A	G201359087A	TNNT2	NM_001276345.2(TNNT2):c.*123C>T	noncoding	Benign
1	201359122	G	C	G201359122C	TNNT2	NM_001276345.2(TNNT2):c.*88C>G	noncoding	Benign
1	201359139	G	A	G201359139A	TNNT2	NM_001276345.2(TNNT2):c.*71C>T	noncoding	Benign
1	201359144	C	T	C201359144T	TNNT2	NM_001276345.2(TNNT2):c.*66G>A	noncoding	Benign/Likely_benign
1	201359170	T	G	T201359170G	TNNT2	NM_001276345.2(TNNT2):c.*40A>C	noncoding	Benign
1	201359222	C	T	C201359222T	TNNT2	NM_001276345.2(TNNT2):c.885G>A:p.Gly295=	coding	Benign/Likely_benign
1	201361312	G	A	G201361312A	TNNT2	NM_001276345.2(TNNT2):c.777C>T:p.Asp259=	coding	Benign/Likely_benign
1	201362251	T	C	T201362251C	TNNT2	NM_001276345.2(TNNT2):c.609+135A>G	noncoding	Benign
1	201363317	A	T	A201363317T	TNNT2	NM_001276345.2(TNNT2):c.579T>A:p.His193Gln	coding	Benign
1	201363329	G	A	G201363329A	TNNT2	NM_001276345.2(TNNT2):c.567C>T:p.Ser189=	coding	Benign/Likely_benign
1	201364635	C	T	C201364635T	TNNT2	NM_001276345.2(TNNT2):c.412-260G>A	noncoding	Benign
1	201364945	C	T	C201364945T	TNNT2	NM_001276345.2(TNNT2):c.411+246G>A	noncoding	Benign
1	201365251	C	T	C201365251T	TNNT2	NM_001276345.2(TNNT2):c.351G>A:p.Glu117=	coding	Benign/Likely_benign
1	201365321	G	A	G201365321A	TNNT2	NM_001276345.2(TNNT2):c.295-14C>T	noncoding	Benign/Likely_benign
1	201365617	T	G	T201365617G	TNNT2	NM_001276345.2(TNNT2):c.287A>C:p.Asp96Ala	coding	Pathogenic/Likely_pathogenic
1	201365634	G	A	G201365634A	TNNT2	NM_001276345.2(TNNT2):c.270C>T:p.Pro90=	coding	Benign/Likely_benign
1	201366771	C	T	C201366771T	TNNT2	NM_001276345.2(TNNT2):c.233+67G>A	noncoding	Benign
1	201366891	A	C	A201366891C	TNNT2	NM_001276345.2(TNNT2):c.200-20T>G	noncoding	Benign
1	201367013	T	C	T201367013C	TNNT2	NM_001276345.2(TNNT2):c.200-142A>G	noncoding	Benign
1	201368308	C	T	C201368308T	TNNT2	NM_001276345.2(TNNT2):c.98-81G>A	noncoding	Benign/Likely_benign
1	201368358	G	A	G201368358A	TNNT2	NM_001276345.2(TNNT2):c.98-131C>T	noncoding	Benign
1	201369768	T	C	T201369768C	TNNT2	NM_001276345.2(TNNT2):c.97+48A>G	noncoding	Benign
1	201369804	A	G	A201369804G	TNNT2	NM_001276345.2(TNNT2):c.97+12T>C	noncoding	Benign
1	201369915	C	T	C201369915T	TNNT2	NM_001276345.2(TNNT2):c.68-70G>A	noncoding	Benign
1	201371787	A	G	A201371787G	TNNT2	NM_001276345.2(TNNT2):c.67+240T>C	noncoding	Benign
1	201372052	G	C	G201372052C	TNNT2	NM_001276345.2(TNNT2):c.53-11C>G	noncoding	Benign
1	201372097	C	T	C201372097T	TNNT2	NM_001276345.2(TNNT2):c.52+48G>A	noncoding	Benign
1	201372132	C	T	C201372132T	TNNT2	NM_001276345.2(TNNT2):c.52+13G>A	noncoding	Benign/Likely_benign
1	201372213	C	T	C201372213T	TNNT2	NM_001276345.2(TNNT2):c.42-58G>A	noncoding	Benign
1	201373262	G	T	G201373262T	TNNT2	NM_001276345.2(TNNT2):c.-8C>A	noncoding	Benign
1	201377641	G	A	G201377641A	TNNT2	NM_001276345.2(TNNT2):c.-33C>T	noncoding	Benign
1	201649136	C	T	C201649136T	NAV1	NM_001389617.1(NAV1):c.1329C>T:p.Gly443=	coding	Benign
1	201899751	C	T	C201899751T	LMOD1	NM_012134.3(LMOD1):c.1262G>A:p.Arg421His	coding	Pathogenic
1	201899907	G	A	G201899907A	LMOD1	NM_012134.3(LMOD1):c.1106C>T:p.Thr369Met	coding	Pathogenic
1	202332163	A	G	A202332163G	UBE2T	NM_014176.4(UBE2T):c.469-203T>C	noncoding	Benign
1	202333104	A	G	A202333104G	UBE2T	NM_014176.4(UBE2T):c.385-11T>C	noncoding	Benign
1	202333862	T	A	T202333862A	UBE2T	NM_014176.4(UBE2T):c.180-307A>T	noncoding	Benign
1	202335740	T	C	T202335740C	UBE2T	NM_014176.4(UBE2T):c.15A>G:p.Ser5=	coding	Benign
1	202596740	G	A	G202596740A	SYT2	NM_177402.5(SYT2):c.*17C>T	noncoding	Benign
1	202596820	G	A	G202596820A	SYT2	NM_177402.5(SYT2):c.1197C>T:p.Ile399=	coding	Benign
1	202596905	A	T	A202596905T	SYT2	NM_177402.5(SYT2):c.1112T>A:p.Ile371Lys	coding	Pathogenic
1	202596923	A	G	A202596923G	SYT2	NM_177402.5(SYT2):c.1094T>C:p.Leu365Pro	coding	Pathogenic
1	202596989	T	A	T202596989A	SYT2	NM_177402.5(SYT2):c.1054-26A>T	noncoding	Benign
1	202597072	T	C	T202597072C	SYT2	NM_177402.5(SYT2):c.1054-109A>G	noncoding	Benign
1	202597236	T	G	T202597236G	SYT2	NM_177402.5(SYT2):c.1054-273A>C	noncoding	Benign
1	202599356	G	A	G202599356A	SYT2	NM_177402.5(SYT2):c.920-5C>T	noncoding	Benign
1	202599378	A	G	A202599378G	SYT2	NM_177402.5(SYT2):c.920-27T>C	noncoding	Benign
1	202599607	T	C	T202599607C	SYT2	NM_177402.5(SYT2):c.920-256A>G	noncoding	Benign
1	202600026	G	A	G202600026A	SYT2	NM_177402.5(SYT2):c.919+331C>T	noncoding	Benign
1	202600427	C	T	C202600427T	SYT2	NM_177402.5(SYT2):c.849G>A:p.Thr283=	coding	Benign
1	202600471	C	A	C202600471A	SYT2	NM_177402.5(SYT2):c.805G>T:p.Glu269Ter	coding	Pathogenic
1	202600472	C	T	C202600472T	SYT2	NM_177402.5(SYT2):c.804G>A:p.Pro268=	coding	Benign/Likely_benign
1	202600703	G	A	G202600703A	SYT2	NM_177402.5(SYT2):c.802-229C>T	noncoding	Benign
1	202600749	G	A	G202600749A	SYT2	NM_177402.5(SYT2):c.802-275C>T	noncoding	Benign
1	202601648	G	A	G202601648A	SYT2	NM_177402.5(SYT2):c.801+242C>T	noncoding	Benign
1	202601790	G	A	G202601790A	SYT2	NM_177402.5(SYT2):c.801+100C>T	noncoding	Benign
1	202602981	C	G	C202602981G	SYT2	NM_177402.5(SYT2):c.465+18G>C	noncoding	Benign
1	202602984	C	T	C202602984T	SYT2	NM_177402.5(SYT2):c.465+15G>A	noncoding	Benign
1	202602998	C	T	C202602998T	SYT2	NM_177402.5(SYT2):c.465+1G>A	noncoding	Pathogenic
1	202604166	C	G	C202604166G	SYT2	NM_177402.5(SYT2):c.345+289G>C	noncoding	Benign
1	202604278	C	T	C202604278T	SYT2	NM_177402.5(SYT2):c.345+177G>A	noncoding	Benign
1	202605295	A	G	A202605295G	SYT2	NM_177402.5(SYT2):c.178+300T>C	noncoding	Benign
1	202605656	G	A	G202605656A	SYT2	NM_177402.5(SYT2):c.117C>T:p.Ser39=	coding	Benign
1	202605716	G	A	G202605716A	SYT2	NM_177402.5(SYT2):c.57C>T:p.Thr19=	coding	Benign
1	202733888	T	C	T202733888C	KDM5B	NM_006618.5(KDM5B):c.3424-2A>G	noncoding	Pathogenic
1	202736327	G	C	G202736327C	KDM5B	NM_006618.5(KDM5B):c.3150C>G:p.Pro1050=	coding	Benign
1	202745916	G	T	G202745916T	KDM5B	NM_006618.5(KDM5B):c.2265C>A:p.Tyr755Ter	coding	Pathogenic
1	202746141	C	G	C202746141G	KDM5B	NM_006618.5(KDM5B):c.2198+1G>C	noncoding	Pathogenic
1	202746156	G	A	G202746156A	KDM5B	NM_006618.5(KDM5B):c.2184C>T:p.Tyr728=	coding	Benign
1	202748941	T	C	T202748941C	KDM5B	NM_006618.5(KDM5B):c.2016+4A>G	noncoding	Benign/Likely_benign
1	202749074	G	A	G202749074A	KDM5B	NM_006618.5(KDM5B):c.1887C>T:p.His629=	coding	Benign
1	202756393	G	A	G202756393A	KDM5B	NM_006618.5(KDM5B):c.1321C>T:p.Arg441Ter	coding	Pathogenic
1	202762722	G	A	G202762722A	KDM5B	NM_006618.5(KDM5B):c.895C>T:p.Arg299Ter	coding	Pathogenic/Likely_pathogenic
1	202764082	G	A	G202764082A	KDM5B	NM_006618.5(KDM5B):c.775C>T:p.Arg259Ter	coding	Pathogenic
1	202764110	C	T	C202764110T	KDM5B	NM_006618.5(KDM5B):c.747G>A:p.Thr249=	coding	Benign
1	202808087	G	A	G202808087A	KDM5B	NM_006618.5(KDM5B):c.204+15C>T	noncoding	Benign
1	202942139	G	C	G202942139C	ADIPOR1	NM_015999.6(ADIPOR1):c.885C>G:p.Thr295=	coding	Benign
1	202942202	A	G	A202942202G	ADIPOR1	NM_015999.6(ADIPOR1):c.822T>C:p.Leu274=	coding	Benign
1	202946427	C	T	C202946427T	ADIPOR1	NM_015999.6(ADIPOR1):c.430+12G>A	noncoding	Benign
1	203216932	C	A	C203216932A	CHIT1	NM_003465.3(CHIT1):c.1358G>T:p.Gly453Val	coding	Benign
1	203217836	G	A	G203217836A	CHIT1	NM_003465.3(CHIT1):c.1059C>T:p.Gly353=	coding	Benign
1	203219257	G	C	G203219257C	CHIT1	NM_003465.3(CHIT1):c.988C>G:p.Gln330Glu	coding	Benign
1	203222229	C	A	C203222229A	CHIT1	NM_003465.3(CHIT1):c.702G>T:p.Glu234Asp	coding	Benign
1	203222253	G	T	G203222253T	CHIT1	NM_003465.3(CHIT1):c.678C>A:p.Ser226Arg	coding	Benign
1	203223211	G	A	G203223211A	CHIT1	NM_003465.3(CHIT1):c.529C>T:p.Arg177Cys	coding	Benign
1	203223514	C	T	C203223514T	CHIT1	NM_003465.3(CHIT1):c.461G>A:p.Arg154His	coding	Benign
1	203225099	G	C	G203225099C	CHIT1	NM_003465.3(CHIT1):c.263C>G:p.Pro88Arg	coding	Benign
1	203225110	A	G	A203225110G	CHIT1	NM_003465.3(CHIT1):c.258-6T>C	noncoding	Benign
1	203225683	A	C	A203225683C	CHIT1	NM_003465.3(CHIT1):c.243T>G:p.Asn81Lys	coding	Benign
1	203228577	G	A	G203228577A	CHIT1	NM_003465.3(CHIT1):c.26-15C>T	noncoding	Benign
1	203495639	C	T	C203495639T	OPTC	NM_014359.4(OPTC):c.-41-326C>T	noncoding	Benign
1	203495640	A	G	A203495640G	OPTC	NM_014359.4(OPTC):c.-41-325A>G	noncoding	Benign
1	203496264	T	G	T203496264G	OPTC	NM_014359.4(OPTC):c.231+28T>G	noncoding	Benign
1	203496268	T	C	T203496268C	OPTC	NM_014359.4(OPTC):c.231+32T>C	noncoding	Benign
1	203496342	T	C	T203496342C	OPTC	NM_014359.4(OPTC):c.231+106T>C	noncoding	Benign
1	203496442	C	G	C203496442G	OPTC	NM_014359.4(OPTC):c.231+206C>G	noncoding	Benign
1	203497221	G	A	G203497221A	OPTC	NM_014359.4(OPTC):c.370+106G>A	noncoding	Benign
1	203498532	G	A	G203498532A	OPTC	NM_014359.4(OPTC):c.371-149G>A	noncoding	Benign
1	203499037	C	A	C203499037A	OPTC	NM_014359.4(OPTC):c.529+198C>A	noncoding	Benign
1	203499080	G	A	G203499080A	OPTC	NM_014359.4(OPTC):c.529+241G>A	noncoding	Benign
1	203502970	G	A	G203502970A	OPTC	NM_014359.4(OPTC):c.789G>A:p.Pro263=	coding	Benign
1	203503813	A	G	A203503813G	OPTC	NM_014359.4(OPTC):c.*25+68A>G	noncoding	Benign
1	203503916	T	C	T203503916C	OPTC	NM_014359.4(OPTC):c.*25+171T>C	noncoding	Benign
1	203683210	C	T	C203683210T	ATP2B4	NM_001684.5(ATP2B4):c.5C>T:p.Thr2Met	coding	Benign
1	203683316	A	G	A203683316G	ATP2B4	NM_001684.5(ATP2B4):c.111A>G:p.Ser37=	coding	Benign
1	203683341	G	A	G203683341A	ATP2B4	NM_001684.5(ATP2B4):c.136G>A:p.Val46Ile	coding	Benign
1	203698281	T	C	T203698281C	ATP2B4	NM_001684.5(ATP2B4):c.318T>C:p.Leu106=	coding	Benign
1	203700243	G	A	G203700243A	ATP2B4	NM_001684.5(ATP2B4):c.687G>A:p.Gly229=	coding	Benign
1	203707031	G	A	G203707031A	ATP2B4	NM_001684.5(ATP2B4):c.1122G>A:p.Thr374=	coding	Benign
1	203708122	G	A	G203708122A	ATP2B4	NM_001684.5(ATP2B4):c.1557+18G>A	noncoding	Benign
1	203709348	C	T	C203709348T	ATP2B4	NM_001684.5(ATP2B4):c.1605C>T:p.Thr535=	coding	Benign
1	203710923	A	C	A203710923C	ATP2B4	NM_001684.5(ATP2B4):c.1846A>C:p.Asn616His	coding	Benign
1	203711957	T	C	T203711957C	ATP2B4	NM_001684.5(ATP2B4):c.2032-3T>C	noncoding	Benign
1	203712127	C	T	C203712127T	ATP2B4	NM_001684.5(ATP2B4):c.2199C>T:p.Asn733=	coding	Benign
1	203721278	C	T	C203721278T	ATP2B4	NM_001684.5(ATP2B4):c.2680C>T:p.Pro894Ser	coding	Benign
1	203721409	G	A	G203721409A	ATP2B4	NM_001684.5(ATP2B4):c.2811G>A:p.Ala937=	coding	Benign
1	204155417	A	G	A204155417G	REN	NM_000537.4(REN):c.1060-240T>C	noncoding	Benign
1	204155737	C	T	C204155737T	REN	NM_000537.4(REN):c.1059+83G>A	noncoding	Benign
1	204155961	G	A	G204155961A	REN	NM_000537.4(REN):c.961-43C>T	noncoding	Benign
1	204156144	C	A	C204156144A	REN	NM_000537.4(REN):c.960+34G>T	noncoding	Benign
1	204156381	T	G	T204156381G	REN	NM_000537.4(REN):c.819-62A>C	noncoding	Benign
1	204156859	T	C	T204156859C	REN	NM_000537.4(REN):c.699-63A>G	noncoding	Benign
1	204157250	G	A	G204157250A	REN	NM_000537.4(REN):c.698+111C>T	noncoding	Benign
1	204159145	C	T	C204159145T	REN	NM_000537.4(REN):c.689+254G>A	noncoding	Benign
1	204159726	T	G	T204159726G	REN	NM_000537.4(REN):c.493-131A>C	noncoding	Benign
1	204160426	T	C	T204160426C	REN	NM_000537.4(REN):c.492+134A>G	noncoding	Benign
1	204160999	G	T	G204160999T	REN	NM_000537.4(REN):c.373+293C>A	noncoding	Benign
1	204161248	G	C	G204161248C	REN	NM_000537.4(REN):c.373+44C>G	noncoding	Benign
1	204161903	C	T	C204161903T	REN	NM_000537.4(REN):c.249+110G>A	noncoding	Benign
1	204166236	A	G	A204166236G	REN	NM_000537.4(REN):c.58T>C:p.Cys20Arg	coding	Pathogenic/Likely_pathogenic
1	204190231	C	T	C204190231T	KISS1	Single_allele	noncoding	Benign
1	204190411	C	G	C204190411G	KISS1	NM_002256.4(KISS1):c.*73G>C	noncoding	Benign
1	204190414	G	C	G204190414C	KISS1	NM_002256.4(KISS1):c.*70C>G	noncoding	Benign
1	204190659	G	C	G204190659C	KISS1	NM_002256.4(KISS1):c.242C>G:p.Pro81Arg	coding	Benign
1	204190794	T	C	T204190794C	KISS1	NM_002256.4(KISS1):c.107A>G:p.Gln36Arg	coding	Benign
1	204192819	C	T	C204192819T	KISS1	NM_002256.4(KISS1):c.58G>A:p.Glu20Lys	coding	Benign
1	204193084	T	C	T204193084C	KISS1	NM_002256.4(KISS1):c.-38-170A>G	noncoding	Benign
1	204193102	T	C	T204193102C	KISS1	NM_002256.4(KISS1):c.-38-188A>G	noncoding	Benign
1	204952130	A	G	A204952130G	NFASC	NM_001005388.3(NFASC):c.215+14A>G	noncoding	Benign
1	204974157	A	T	A204974157T	NFASC	NM_001005388.3(NFASC):c.1280-22A>T	noncoding	Benign
1	204974819	C	A	C204974819A	NFASC	NM_001005388.3(NFASC):c.1554C>A:p.Val518=	coding	Benign
1	204976743	C	T	C204976743T	NFASC	NM_001005388.3(NFASC):c.1779C>T:p.Val593_Ala594=	coding	Benign
1	204979531	A	G	A204979531G	NFASC	NM_001005388.3(NFASC):c.2148A>G:p.Pro716=	coding	Benign
1	205001174	T	C	T205001174C	NFASC	NM_001005388.3(NFASC):c.3024T>C:p.Pro1008=	coding	Benign
1	205058368	G	A	G205058368A	CNTN2	NM_005076.5(CNTN2):c.391+12G>A	noncoding	Benign
1	205058369	G	A	G205058369A	CNTN2	NM_005076.5(CNTN2):c.391+13G>A	noncoding	Benign
1	205058609	G	A	G205058609A	CNTN2	NM_005076.5(CNTN2):c.433G>A:p.Ala145Thr	coding	Benign
1	205058662	A	C	A205058662C	CNTN2	NM_005076.5(CNTN2):c.486A>C:p.Pro162=	coding	Benign
1	205059182	C	T	C205059182T	CNTN2	NM_005076.5(CNTN2):c.586C>T:p.Arg196Ter	coding	Pathogenic
1	205059311	G	T	G205059311T	CNTN2	NM_005076.5(CNTN2):c.697+18G>T	noncoding	Benign
1	205062509	C	T	C205062509T	CNTN2	NM_005076.5(CNTN2):c.1180C>T:p.Gln394Ter	coding	Pathogenic
1	205065792	G	T	G205065792T	CNTN2	NM_005076.5(CNTN2):c.1699G>T:p.Glu567Ter	coding	Pathogenic
1	205067258	T	A	T205067258A	CNTN2	NM_005076.5(CNTN2):c.2125+8T>A	noncoding	Benign
1	205069603	C	T	C205069603T	CNTN2	NM_005076.5(CNTN2):c.2196+42C>T	noncoding	Benign
1	205070081	C	A	C205070081A	CNTN2	NM_005076.5(CNTN2):c.2431+20C>A	noncoding	Benign
1	205071935	C	T	C205071935T	CNTN2	NM_005076.5(CNTN2):c.2545-12C>T	noncoding	Benign
1	205071989	C	T	C205071989T	CNTN2	NM_005076.5(CNTN2):c.2587C>T:p.Arg863Ter	coding	Pathogenic
1	205072030	C	T	C205072030T	CNTN2	NM_005076.5(CNTN2):c.2628C>T:p.Ser876=	coding	Benign
1	205072491	C	T	C205072491T	CNTN2	NM_005076.5(CNTN2):c.2740C>T:p.Arg914Ter	coding	Pathogenic
1	205073056	T	C	T205073056C	CNTN2	NM_005076.5(CNTN2):c.2845-12T>C	noncoding	Benign
1	205073712	G	A	G205073712A	CNTN2	NM_005076.5(CNTN2):c.3070G>A:p.Val1024Ile	coding	Benign
1	205147507	A	T	A205147507T	DSTYK	NM_015375.3(DSTYK):c.*51T>A	noncoding	Benign
1	205150453	C	T	C205150453T	DSTYK	NM_015375.3(DSTYK):c.2467+227G>A	noncoding	Benign
1	205150853	C	T	C205150853T	DSTYK	NM_015375.3(DSTYK):c.2353-59G>A	noncoding	Benign
1	205157591	C	A	C205157591A	DSTYK	NM_015375.3(DSTYK):c.2239-205G>T	noncoding	Benign
1	205160104	C	T	C205160104T	DSTYK	NM_015375.3(DSTYK):c.2105+10G>A	noncoding	Benign
1	205163250	A	G	A205163250G	DSTYK	NM_015375.3(DSTYK):c.1558-244T>C	noncoding	Benign
1	205163896	G	A	G205163896A	DSTYK	NM_015375.3(DSTYK):c.1384C>T:p.Arg462Ter	coding	Pathogenic
1	205163896	G	T	G205163896T	DSTYK	NM_015375.3(DSTYK):c.1384C>A:p.Arg462=	coding	Benign
1	205164041	T	C	T205164041C	DSTYK	NM_015375.3(DSTYK):c.1325-86A>G	noncoding	Benign
1	205169193	G	C	G205169193C	DSTYK	NM_015375.3(DSTYK):c.1294C>G:p.Leu432Val	coding	Benign
1	205169840	G	A	G205169840A	DSTYK	NM_015375.3(DSTYK):c.655-8C>T	noncoding	Benign/Likely_benign
1	205169862	G	A	G205169862A	DSTYK	NM_015375.3(DSTYK):c.655-30C>T	noncoding	Benign
1	205187972	T	C	T205187972C	DSTYK	NM_015375.3(DSTYK):c.266-166A>G	noncoding	Benign
1	205187980	A	G	A205187980G	DSTYK	NM_015375.3(DSTYK):c.266-174T>C	noncoding	Benign
1	205211934	T	C	T205211934C	DSTYK	Single_allele	noncoding	Benign
1	205795305	A	C	A205795305C	SLC41A1	NM_173854.6(SLC41A1):c.1207+39T>G	noncoding	Benign
1	205795390	T	C	T205795390C	SLC41A1	NM_173854.6(SLC41A1):c.1161A>G:p.Gln387=	coding	Benign
1	205795512	G	A	G205795512A	SLC41A1	NM_173854.6(SLC41A1):c.1073-34C>T	noncoding	Benign
1	205798757	G	A	G205798757A	SLC41A1	NM_173854.6(SLC41A1):c.756C>T:p.Asn252=	coding	Benign
1	205798815	C	A	C205798815A	SLC41A1	NM_173854.6(SLC41A1):c.698G>T:p.Gly233Val	coding	Pathogenic
1	205799181	C	T	C205799181T	SLC41A1	NM_173854.6(SLC41A1):c.553-80G>A	noncoding	Benign
1	205810103	G	A	G205810103A	SLC41A1	NM_173854.6(SLC41A1):c.339C>T:p.Thr113=	coding	Benign
1	205832744	A	G	A205832744G	PM20D1	NM_152491.5(PM20D1):c.1139T>C:p.Ile380Thr	coding	Benign
1	206770623	C	A	C206770623A	IL10	NM_000572.3(IL10):c.378+284G>T	noncoding	Benign
1	206770888	A	G	A206770888G	IL10	NM_000572.3(IL10):c.378+19T>C	noncoding	Benign
1	206771300	T	C	T206771300C	IL10	NM_000572.3(IL10):c.225+56A>G	noncoding	Benign
1	206771430	A	G	A206771430G	IL10	NM_000572.3(IL10):c.166-15T>C	noncoding	Benign
1	206773062	T	G	T206773062G	IL10	NM_153758.5(IL19):c.-149+1984T>G	noncoding	Benign
1	206773289	A	G	A206773289G	IL10	NM_153758.5(IL19):c.-149+2211A>G	noncoding	Benign
1	206935771	C	T	C206935771T	PIGR	NM_002644.4(PIGR):c.1093G>A:p.Gly365Ser	coding	Benign
1	206935822	G	A	G206935822A	PIGR	NM_002644.4(PIGR):c.1046-4C>T	noncoding	Benign
1	207089635	T	G	T207089635G	C4BPB	NM_001017365.3(C4BPB):c.58+46T>G	noncoding	Benign
1	207090194	C	T	C207090194T	C4BPB	NM_001017365.3(C4BPB):c.59-114C>T	noncoding	Benign
1	207092085	G	A	G207092085A	C4BPB	NM_001017365.3(C4BPB):c.409+265G>A	noncoding	Benign
1	207098517	T	G	T207098517G	C4BPB	NM_001017365.3(C4BPB):c.618+253T>G	noncoding	Benign
1	207100080	G	A	G207100080A	C4BPB	Single_allele	noncoding	Benign
1	207100090	G	A	G207100090A	C4BPB	Single_allele	noncoding	Benign
1	207100147	G	A	G207100147A	C4BPB	Single_allele	noncoding	Benign
1	207113036	C	A	C207113036A	C4BPA	NM_000715.4(C4BPA):c.11C>A:p.Pro4Gln	coding	Benign
1	207113412	T	C	T207113412C	C4BPA	NM_000715.4(C4BPA):c.142+245T>C	noncoding	Benign
1	207113842	C	T	C207113842T	C4BPA	NM_000715.4(C4BPA):c.143-258C>T	noncoding	Benign
1	207115552	T	C	T207115552C	C4BPA	NM_000715.4(C4BPA):c.428+37T>C	noncoding	Benign
1	207124139	G	C	G207124139C	C4BPA	NM_000715.4(C4BPA):c.515-36G>C	noncoding	Benign
1	207126725	G	A	G207126725A	C4BPA	NM_000715.4(C4BPA):c.719G>A:p.Arg240His	coding	Benign
1	207126914	A	G	A207126914G	C4BPA	NM_000715.4(C4BPA):c.889+19A>G	noncoding	Benign
1	207127036	T	A	T207127036A	C4BPA	NM_000715.4(C4BPA):c.889+141T>A	noncoding	Benign
1	207131724	A	C	A207131724C	C4BPA	NM_000715.4(C4BPA):c.1068A>C:p.Pro356=	coding	Benign
1	207141011	A	C	A207141011C	C4BPA	NM_000715.4(C4BPA):c.1274-95A>C	noncoding	Benign
1	207141043	C	T	C207141043T	C4BPA	NM_000715.4(C4BPA):c.1274-63C>T	noncoding	Benign
1	207144443	G	C	G207144443C	C4BPA	NM_000715.4(C4BPA):c.1621-101G>C	noncoding	Benign
1	207321771	C	G	C207321771G	CD55	NM_000574.5(CD55):c.6C>G:p.Thr2=	coding	Benign
1	207321879	C	T	C207321879T	CD55	NM_000574.5(CD55):c.100+14C>T	noncoding	Benign
1	207322542	G	A	G207322542A	CD55	NM_000574.5(CD55):c.261G>A:p.Trp87Ter	coding	Pathogenic
1	207324566	C	T	C207324566T	CD55	NM_000574.5(CD55):c.294C>T:p.Cys98=	coding	Benign
1	207325651	C	T	C207325651T	CD55	NM_000574.5(CD55):c.508C>T:p.Arg170Ter	coding	Pathogenic
1	207325741	A	G	A207325741G	CD55	NM_000574.5(CD55):c.578+20A>G	noncoding	Benign
1	207331111	T	A	T207331111A	CD55	NM_000574.5(CD55):c.668T>A:p.Ile223Asn	coding	Benign
1	207331122	G	C	G207331122C	CD55	NM_000574.5(CD55):c.679G>C:p.Ala227Pro	coding	Benign
1	207336677	A	G	A207336677G	CD55	NM_000574.5(CD55):c.854-16A>G	noncoding	Benign
1	207336703	A	G	A207336703G	CD55	NM_000574.5(CD55):c.864A>G:p.Leu288=	coding	Benign
1	207337346	G	A	G207337346A	CD55	NM_000574.5(CD55):c.997G>A:p.Val333Ile	coding	Benign
1	207339413	A	G	A207339413G	CD55	NM_000574.5(CD55):c.1077A>G:p.Leu359=	coding	Benign
1	207454348	T	C	T207454348C	CR2	NM_001006658.3(CR2):c.-71T>C	noncoding	Benign
1	207454489	G	A	G207454489A	CR2	NM_001006658.3(CR2):c.58+13G>A	noncoding	Benign
1	207454573	G	A	G207454573A	CR2	NM_001006658.3(CR2):c.58+97G>A	noncoding	Benign
1	207466350	C	G	C207466350G	CR2	NM_001006658.3(CR2):c.59-176C>G	noncoding	Benign
1	207466929	A	G	A207466929G	CR2	NM_001006658.3(CR2):c.445+17A>G	noncoding	Benign
1	207467000	G	T	G207467000T	CR2	NM_001006658.3(CR2):c.445+88G>T	noncoding	Benign
1	207467147	C	T	C207467147T	CR2	NM_001006658.3(CR2):c.445+235C>T	noncoding	Benign
1	207468495	C	T	C207468495T	CR2	NM_001006658.3(CR2):c.446-32C>T	noncoding	Benign
1	207468780	A	T	A207468780T	CR2	NM_001006658.3(CR2):c.635-20A>T	noncoding	Benign
1	207468950	G	A	G207468950A	CR2	NM_001006658.3(CR2):c.734+51G>A	noncoding	Benign
1	207470113	C	T	C207470113T	CR2	NM_001006658.3(CR2):c.1225+11C>T	noncoding	Benign
1	207470328	T	C	T207470328C	CR2	NM_001006658.3(CR2):c.1225+226T>C	noncoding	Benign
1	207470604	G	A	G207470604A	CR2	NM_001006658.3(CR2):c.1226-136G>A	noncoding	Benign
1	207471406	C	T	C207471406T	CR2	NM_001006658.3(CR2):c.1494-17C>T	noncoding	Benign
1	207472550	G	A	G207472550A	CR2	NM_001006658.3(CR2):c.1571-222G>A	noncoding	Benign
1	207472611	C	A	C207472611A	CR2	NM_001006658.3(CR2):c.1571-161C>A	noncoding	Benign
1	207473904	A	G	A207473904G	CR2	NM_001006658.3(CR2):c.2240+19A>G	noncoding	Benign
1	207473994	A	G	A207473994G	CR2	NM_001006658.3(CR2):c.2240+109A>G	noncoding	Benign
1	207474648	C	A	C207474648A	CR2	NM_001006658.3(CR2):c.2324-176C>A	noncoding	Benign
1	207477593	G	T	G207477593T	CR2	NM_001006658.3(CR2):c.2903-292G>T	noncoding	Benign
1	207477714	T	C	T207477714C	CR2	NM_001006658.3(CR2):c.2903-171T>C	noncoding	Benign
1	207479761	A	C	A207479761C	CR2	NM_001006658.3(CR2):c.3113-217A>C	noncoding	Benign
1	207479833	C	G	C207479833G	CR2	NM_001006658.3(CR2):c.3113-145C>G	noncoding	Benign
1	207480099	T	A	T207480099A	CR2	NM_001006658.3(CR2):c.3188+46T>A	noncoding	Benign
1	207609586	A	G	A207609586G	CR1	NM_000651.6(CR1):c.6193A>G:p.Ile2065Val	coding	Benign
1	207751561	G	A	G207751561A	CD46	Single_allele	noncoding	Benign
1	207751847	G	A	G207751847A	CD46	Single_allele	noncoding	Benign
1	207752016	C	G	C207752016G	CD46	Single_allele	noncoding	Benign
1	207756822	T	A	T207756822A	CD46	NM_172351.3(CD46):c.98-192T>A	noncoding	Benign
1	207756858	G	A	G207756858A	CD46	NM_172351.3(CD46):c.98-156G>A	noncoding	Benign
1	207757046	A	C	A207757046C	CD46	NM_172351.3(CD46):c.130A>C:p.Met44Leu	coding	Benign
1	207757091	C	T	C207757091T	CD46	NM_172351.3(CD46):c.175C>T:p.Arg59Ter	coding	Pathogenic
1	207757203	G	C	G207757203C	CD46	NM_172351.3(CD46):c.286+1G>C	coding	Pathogenic
1	207757538	A	G	A207757538G	CD46	NM_172351.3(CD46):c.287-2A>G	noncoding	Pathogenic
1	207757830	T	G	T207757830G	CD46	NM_172351.3(CD46):c.389+188T>G	noncoding	Benign
1	207761142	A	C	A207761142C	CD46	NM_172351.3(CD46):c.476-107A>C	noncoding	Benign
1	207761208	A	T	A207761208T	CD46	NM_172351.3(CD46):c.476-41A>T	noncoding	Benign
1	207761248	G	A	G207761248A	CD46	NM_172351.3(CD46):c.476-1G>A	noncoding	Pathogenic
1	207761504	A	G	A207761504G	CD46	NM_172351.3(CD46):c.673+58A>G	noncoding	Benign
1	207767215	T	C	T207767215C	CD46	NM_172351.3(CD46):c.856+20T>C	noncoding	Benign
1	207767508	T	A	T207767508A	CD46	NM_172351.3(CD46):c.857-271T>A	noncoding	Benign
1	207767589	C	T	C207767589T	CD46	NM_172351.3(CD46):c.857-190C>T	noncoding	Benign
1	207767846	G	T	G207767846T	CD46	NM_172351.3(CD46):c.901+23G>T	noncoding	Benign
1	207770345	C	T	C207770345T	CD46	NM_172351.3(CD46):c.926C>T:p.Pro309Leu	coding	Benign/Likely_benign
1	207783214	G	A	G207783214A	CD46	NM_172351.3(CD46):c.944-78G>A	noncoding	Benign
1	207783280	C	A	C207783280A	CD46	NM_172351.3(CD46):c.944-12C>A	noncoding	Benign
1	207785725	T	C	T207785725C	CD46	NM_172351.3(CD46):c.1082+43T>C	noncoding	Benign
1	207785791	T	A	T207785791A	CD46	NM_172351.3(CD46):c.1082+109T>A	noncoding	Benign
1	208031574	C	A	C208031574A	PLXNA2	NM_025179.4(PLXNA2):c.5225+16G>T	noncoding	Benign
1	208031770	G	T	G208031770T	PLXNA2	NM_025179.4(PLXNA2):c.5056-11C>A	noncoding	Benign
1	208033523	G	T	G208033523T	PLXNA2	NM_025179.4(PLXNA2):c.4865-14C>A	noncoding	Benign
1	208034494	G	A	G208034494A	PLXNA2	NM_025179.4(PLXNA2):c.4863C>T:p.Tyr1621=	coding	Benign
1	208034604	A	G	A208034604G	PLXNA2	NM_025179.4(PLXNA2):c.4765-12T>C	noncoding	Benign
1	208038879	C	T	C208038879T	PLXNA2	NM_025179.4(PLXNA2):c.4606G>A:p.Val1536Met	coding	Benign
1	208039684	G	A	G208039684A	PLXNA2	NM_025179.4(PLXNA2):c.4437C>T:p.Gly1479=	coding	Benign
1	208039780	A	G	A208039780G	PLXNA2	NM_025179.4(PLXNA2):c.4354-13T>C	noncoding	Benign
1	208044623	G	C	G208044623C	PLXNA2	NM_025179.4(PLXNA2):c.3759C>G:p.Val1253=	coding	Benign
1	208044626	G	A	G208044626A	PLXNA2	NM_025179.4(PLXNA2):c.3756C>T:p.Ile1252=	coding	Benign
1	208045047	C	T	C208045047T	PLXNA2	NM_025179.4(PLXNA2):c.3639+20G>A	noncoding	Benign
1	208045223	G	C	G208045223C	PLXNA2	NM_025179.4(PLXNA2):c.3496-13C>G	noncoding	Benign
1	208045866	G	T	G208045866T	PLXNA2	NM_025179.4(PLXNA2):c.3495+12C>A	noncoding	Benign
1	208051248	C	T	C208051248T	PLXNA2	NM_025179.4(PLXNA2):c.3161+8G>A	noncoding	Benign
1	208052329	G	A	G208052329A	PLXNA2	NM_025179.4(PLXNA2):c.2991C>T:p.Tyr997=	coding	Benign
1	208079395	G	A	G208079395A	PLXNA2	NM_025179.4(PLXNA2):c.2451C>T:p.Ala817=	coding	Benign
1	208079432	G	C	G208079432C	PLXNA2	NM_025179.4(PLXNA2):c.2414C>G:p.Ala805Gly	coding	Benign
1	208082395	C	T	C208082395T	PLXNA2	NM_025179.4(PLXNA2):c.2395+17G>A	noncoding	Benign
1	208082401	T	C	T208082401C	PLXNA2	NM_025179.4(PLXNA2):c.2395+11A>G	noncoding	Benign
1	208096009	C	G	C208096009G	PLXNA2	NM_025179.4(PLXNA2):c.1982+20G>C	noncoding	Benign
1	208096762	G	T	G208096762T	PLXNA2	NM_025179.4(PLXNA2):c.1853C>A:p.Pro618His	coding	Benign
1	208096899	A	C	A208096899C	PLXNA2	NM_025179.4(PLXNA2):c.1732-16T>G	noncoding	Benign
1	208103209	C	T	C208103209T	PLXNA2	NM_025179.4(PLXNA2):c.1545G>A:p.Thr515=	coding	Benign
1	208210475	G	A	G208210475A	PLXNA2	NM_025179.4(PLXNA2):c.1189-13C>T	noncoding	Benign
1	208216741	G	C	G208216741C	PLXNA2	NM_025179.4(PLXNA2):c.1182C>G:p.Thr394=	coding	Benign
1	208216810	C	T	C208216810T	PLXNA2	NM_025179.4(PLXNA2):c.1113G>A:p.Leu371=	coding	Benign
1	208216813	G	C	G208216813C	PLXNA2	NM_025179.4(PLXNA2):c.1110C>G:p.Arg370=	coding	Benign
1	208216817	T	C	T208216817C	PLXNA2	NM_025179.4(PLXNA2):c.1106A>G:p.Glu369Gly	coding	Benign
1	208217124	C	T	C208217124T	PLXNA2	NM_025179.4(PLXNA2):c.799G>A:p.Ala267Thr	coding	Benign
1	208217740	G	A	G208217740A	PLXNA2	NM_025179.4(PLXNA2):c.183C>T:p.Ala61=	coding	Benign
1	208217753	T	C	T208217753C	PLXNA2	NM_025179.4(PLXNA2):c.170A>G:p.Gln57Arg	coding	Benign
1	208217909	C	T	C208217909T	PLXNA2	NM_025179.4(PLXNA2):c.14G>A:p.Arg5Gln	coding	Benign
1	209615465	C	T	C209615465T	LAMB3	NM_000228.3(LAMB3):c.3383-58G>A	noncoding	Benign
1	209615741	G	A	G209615741A	LAMB3	NM_000228.3(LAMB3):c.3383-334C>T	noncoding	Benign
1	209616606	G	A	G209616606A	LAMB3	NM_000228.3(LAMB3):c.3247C>T:p.Gln1083Ter	coding	Pathogenic
1	209617519	C	T	C209617519T	LAMB3	NM_000228.3(LAMB3):c.3119G>A:p.Trp1040Ter	coding	Pathogenic/Likely_pathogenic
1	209617559	T	A	T209617559A	LAMB3	NM_000228.3(LAMB3):c.3079A>T:p.Lys1027Ter	coding	Pathogenic
1	209618049	C	T	C209618049T	LAMB3	NM_000228.3(LAMB3):c.2910-1G>A	coding	Pathogenic
1	209618163	G	A	G209618163A	LAMB3	NM_000228.3(LAMB3):c.2910-115C>T	noncoding	Benign
1	209618217	C	T	C209618217T	LAMB3	NM_000228.3(LAMB3):c.2910-169G>A	noncoding	Benign
1	209618258	G	A	G209618258A	LAMB3	NM_000228.3(LAMB3):c.2909+194C>T	noncoding	Benign
1	209618270	G	A	G209618270A	LAMB3	NM_000228.3(LAMB3):c.2909+182C>T	noncoding	Benign
1	209618573	G	A	G209618573A	LAMB3	NM_000228.3(LAMB3):c.2788C>T:p.Gln930Ter	coding	Pathogenic
1	209622922	G	A	G209622922A	LAMB3	NM_000228.3(LAMB3):c.2556+60C>T	noncoding	Benign
1	209623116	G	A	G209623116A	LAMB3	NM_000228.3(LAMB3):c.2422C>T:p.Gln808Ter	coding	Pathogenic
1	209623675	G	A	G209623675A	LAMB3	NM_000228.3(LAMB3):c.2188C>T:p.Gln730Ter	coding	Pathogenic
1	209623697	G	C	G209623697C	LAMB3	NM_000228.3(LAMB3):c.2166C>G:p.Tyr722Ter	coding	Pathogenic
1	209625426	G	A	G209625426A	LAMB3	NM_000228.3(LAMB3):c.1976+222C>T	noncoding	Benign
1	209625479	A	G	A209625479G	LAMB3	NM_000228.3(LAMB3):c.1976+169T>C	noncoding	Benign
1	209625727	G	A	G209625727A	LAMB3	NM_000228.3(LAMB3):c.1897C>T:p.Gln633Ter	coding	Pathogenic
1	209625922	G	A	G209625922A	LAMB3	NM_000228.3(LAMB3):c.1702C>T:p.Gln568Ter	coding	Pathogenic
1	209627532	C	A	C209627532A	LAMB3	NM_000228.3(LAMB3):c.1336G>T:p.Glu446Ter	coding	Pathogenic
1	209627631	C	T	C209627631T	LAMB3	NM_000228.3(LAMB3):c.1289-52G>A	noncoding	Benign
1	209627729	G	A	G209627729A	LAMB3	NM_000228.3(LAMB3):c.1289-150C>T	noncoding	Benign
1	209627765	C	T	C209627765T	LAMB3	NM_000228.3(LAMB3):c.1289-186G>A	noncoding	Benign
1	209628006	C	T	C209628006T	LAMB3	NM_000228.3(LAMB3):c.1288+29G>A	noncoding	Benign
1	209628034	C	T	C209628034T	LAMB3	NM_000228.3(LAMB3):c.1288+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	209628212	C	T	C209628212T	LAMB3	NM_000228.3(LAMB3):c.1133-22G>A	noncoding	Pathogenic
1	209628224	A	G	A209628224G	LAMB3	NM_000228.3(LAMB3):c.1133-34T>C	noncoding	Benign
1	209628362	T	C	T209628362C	LAMB3	NM_000228.3(LAMB3):c.1133-172A>G	noncoding	Benign
1	209629613	C	T	C209629613T	LAMB3	NM_000228.3(LAMB3):c.1132+124G>A	noncoding	Benign
1	209629806	A	G	A209629806G	LAMB3	NM_000228.3(LAMB3):c.1063T>C:p.Cys355Arg	coding	Pathogenic
1	209629894	A	T	A209629894T	LAMB3	NM_000228.3(LAMB3):c.975T>A:p.Cys325Ter	coding	Pathogenic/Likely_pathogenic
1	209630563	G	C	G209630563C	LAMB3	NM_000228.3(LAMB3):c.943+52C>G	noncoding	Benign
1	209630597	G	T	G209630597T	LAMB3	NM_000228.3(LAMB3):c.943+18C>A	noncoding	Benign
1	209630737	T	A	T209630737A	LAMB3	NM_000228.3(LAMB3):c.823-2A>T	noncoding	Pathogenic
1	209632287	T	A	T209632287A	LAMB3	NM_000228.3(LAMB3):c.822+296A>T	noncoding	Benign
1	209633082	G	A	G209633082A	LAMB3	NM_000228.3(LAMB3):c.616C>T:p.Gln206Ter	coding	Pathogenic
1	209633134	C	T	C209633134T	LAMB3	NM_000228.3(LAMB3):c.565-1G>A	coding	Pathogenic
1	209634161	G	A	G209634161A	LAMB3	NM_000228.3(LAMB3):c.564+286C>T	noncoding	Benign
1	209634197	G	A	G209634197A	LAMB3	NM_000228.3(LAMB3):c.564+250C>T	noncoding	Benign
1	209634507	C	T	C209634507T	LAMB3	NM_000228.3(LAMB3):c.504G>A:p.Trp168Ter	coding	Pathogenic
1	209634527	G	A	G209634527A	LAMB3	NM_000228.3(LAMB3):c.484C>T:p.Gln162Ter	coding	Pathogenic
1	209634583	C	T	C209634583T	LAMB3	NM_000228.3(LAMB3):c.428G>A:p.Trp143Ter	coding	Pathogenic/Likely_pathogenic
1	209637931	G	A	G209637931A	LAMB3	NM_000228.3(LAMB3):c.349C>T:p.Gln117Ter	coding	Pathogenic
1	209637957	A	G	A209637957G	LAMB3	NM_000228.3(LAMB3):c.323T>C:p.Leu108Pro	coding	Pathogenic
1	209638550	C	T	C209638550T	LAMB3	NM_000228.3(LAMB3):c.282G>A:p.Trp94Ter	coding	Pathogenic
1	209638718	T	C	T209638718C	LAMB3	NM_000228.3(LAMB3):c.184-70A>G	noncoding	Benign
1	209638934	T	C	T209638934C	LAMB3	NM_000228.3(LAMB3):c.184-286A>G	noncoding	Benign
1	209638983	G	A	G209638983A	LAMB3	NM_000228.3(LAMB3):c.184-335C>T	noncoding	Benign
1	209650095	G	A	G209650095A	LAMB3	NM_000228.3(LAMB3):c.52C>T:p.Gln18Ter	coding	Pathogenic
1	209650591	G	A	G209650591A	LAMB3	NM_000228.3(LAMB3):c.28+326C>T	noncoding	Benign
1	209650625	C	T	C209650625T	LAMB3	NM_000228.3(LAMB3):c.28+292G>A	noncoding	Benign
1	209650754	G	C	G209650754C	LAMB3	NM_000228.3(LAMB3):c.28+163C>G	noncoding	Benign
1	209650829	C	T	C209650829T	LAMB3	NM_000228.3(LAMB3):c.28+88G>A	noncoding	Benign
1	209651007	T	A	T209651007A	LAMB3	NM_000228.3(LAMB3):c.-37-26A>T	noncoding	Benign
1	209651362	A	T	A209651362T	LAMB3	NM_000228.3(LAMB3):c.-37-381T>A	noncoding	Benign
1	209651481	G	A	G209651481A	LAMB3	NM_000228.3(LAMB3):c.-37-500C>T	noncoding	Benign
1	209651554	G	A	G209651554A	LAMB3	NM_000228.3(LAMB3):c.-37-573C>T	noncoding	Benign
1	209652041	T	C	T209652041C	LAMB3	NM_000228.3(LAMB3):c.-38+328A>G	noncoding	Benign
1	209652603	C	G	C209652603G	LAMB3	Single_allele	noncoding	Benign
1	209788614	C	T	C209788614T	IRF6	NM_006147.4(IRF6):c.1210G>A:p.Glu404Lys	coding	Pathogenic
1	209788859	A	T	A209788859T	IRF6	NM_006147.4(IRF6):c.1180-215T>A	noncoding	Benign
1	209789449	G	A	G209789449A	IRF6	NM_006147.4(IRF6):c.1179+218C>T	noncoding	Benign
1	209789708	G	A	G209789708A	IRF6	NM_006147.4(IRF6):c.1138C>T:p.Pro380Ser	coding	Pathogenic
1	209790458	G	A	G209790458A	IRF6	NM_006147.4(IRF6):c.1060+37C>T	noncoding	Benign
1	209790503	A	G	A209790503G	IRF6	NM_006147.4(IRF6):c.1052T>C:p.Phe351Ser	coding	Pathogenic
1	209790510	C	A	C209790510A	IRF6	NM_006147.4(IRF6):c.1045G>T:p.Glu349Ter	coding	Pathogenic
1	209790603	G	A	G209790603A	IRF6	NM_006147.4(IRF6):c.952C>T:p.Gln318Ter	coding	Pathogenic
1	209790807	G	A	G209790807A	IRF6	NM_006147.4(IRF6):c.748C>T:p.Arg250Ter	coding	Pathogenic
1	209790844	G	T	G209790844T	IRF6	NM_006147.4(IRF6):c.711C>A:p.Tyr237Ter	coding	Pathogenic
1	209792361	C	T	C209792361T	IRF6	NM_006147.4(IRF6):c.575G>A:p.Trp192Ter	coding	Pathogenic
1	209792378	G	T	G209792378T	IRF6	NM_006147.4(IRF6):c.558C>A:p.Cys186Ter	coding	Pathogenic
1	209794974	A	C	A209794974C	IRF6	NM_006147.4(IRF6):c.508+316T>G	noncoding	Benign
1	209795066	C	T	C209795066T	IRF6	NM_006147.4(IRF6):c.508+224G>A	noncoding	Benign
1	209795244	C	A	C209795244A	IRF6	NM_006147.4(IRF6):c.508+46G>T	noncoding	Benign
1	209795320	G	A	G209795320A	IRF6	NM_006147.4(IRF6):c.478C>T:p.Gln160Ter	coding	Pathogenic
1	209795573	G	A	G209795573A	IRF6	NM_006147.4(IRF6):c.380-155C>T	noncoding	Benign
1	209796376	A	C	A209796376C	IRF6	NM_006147.4(IRF6):c.351T>G:p.Pro117=	coding	Benign
1	209796464	T	C	T209796464C	IRF6	NM_006147.4(IRF6):c.263A>G:p.Asn88Ser	coding	Pathogenic
1	209796751	C	G	C209796751G	IRF6	NM_006147.4(IRF6):c.175-199G>C	noncoding	Benign
1	209937897	A	T	A209937897T	SYT14	Single_allele	noncoding	Benign
1	209938148	C	T	C209938148T	SYT14	Single_allele	noncoding	Benign
1	209952535	T	C	T209952535C	SYT14	NM_001146262.4(SYT14):c.14-174T>C	noncoding	Benign
1	210020857	A	G	A210020857G	SYT14	NM_001146262.4(SYT14):c.227-182A>G	noncoding	Benign
1	210100009	T	C	T210100009C	SYT14	NM_001146262.4(SYT14):c.715-3T>C	noncoding	Benign
1	210100541	A	T	A210100541T	SYT14	NM_001146262.4(SYT14):c.1164+80A>T	noncoding	Benign
1	210155468	G	T	G210155468T	SYT14	NM_001146262.4(SYT14):c.1165-253G>T	noncoding	Benign
1	210160431	A	G	A210160431G	SYT14	NM_001146262.4(SYT14):c.1412-298A>G	noncoding	Benign
1	210362934	C	A	C210362934A	HHAT	NM_018194.6(HHAT):c.159+15C>A	noncoding	Benign
1	210404487	C	T	C210404487T	HHAT	NM_018194.6(HHAT):c.492C>T:p.Asn164=	coding	Benign
1	210404529	G	C	G210404529C	HHAT	NM_018194.6(HHAT):c.534G>C:p.Leu178=	coding	Benign
1	210404540	G	A	G210404540A	HHAT	NM_018194.6(HHAT):c.545G>A:p.Ser182Asn	coding	Benign
1	210404557	T	C	T210404557C	HHAT	NM_018194.6(HHAT):c.562T>C:p.Cys188Arg	coding	Benign
1	210418168	G	A	G210418168A	HHAT	NM_018194.6(HHAT):c.699G>A:p.Glu233=	coding	Benign
1	210418239	T	C	T210418239C	HHAT	NM_018194.6(HHAT):c.770T>C:p.Leu257Pro	coding	Pathogenic
1	210464508	G	T	G210464508T	HHAT	NM_018194.6(HHAT):c.860G>T:p.Gly287Val	coding	Pathogenic
1	210587988	G	A	G210587988A	HHAT	NM_018194.6(HHAT):c.1134G>A:p.Trp378Ter	coding	Pathogenic
1	210588034	C	T	C210588034T	HHAT	NM_018194.6(HHAT):c.1180C>T:p.Leu394=	coding	Benign
1	210588118	G	C	G210588118C	HHAT	NM_018194.6(HHAT):c.1245+19G>C	noncoding	Benign
1	210683243	G	T	G210683243T	KCNH1	NM_172362.3(KCNH1):c.*38C>A	noncoding	Benign
1	210683262	T	G	T210683262G	KCNH1	NM_172362.3(KCNH1):c.*19A>C	noncoding	Benign
1	210683275	G	A	G210683275A	KCNH1	NM_172362.3(KCNH1):c.*6C>T	noncoding	Benign
1	210683288	G	C	G210683288C	KCNH1	NM_172362.3(KCNH1):c.2963C>G:p.Ala988Gly	coding	Benign
1	210683289	C	A	C210683289A	KCNH1	NM_172362.3(KCNH1):c.2962G>T:p.Ala988Ser	coding	Benign/Likely_benign
1	210683340	A	G	A210683340G	KCNH1	NM_172362.3(KCNH1):c.2911T>C:p.Phe971Leu	coding	Benign
1	210683476	T	A	T210683476A	KCNH1	NM_172362.3(KCNH1):c.2775A>T:p.Thr925=	coding	Benign
1	210683483	T	G	T210683483G	KCNH1	NM_172362.3(KCNH1):c.2768A>C:p.Gln923Pro	coding	Benign/Likely_benign
1	210683590	G	A	G210683590A	KCNH1	NM_172362.3(KCNH1):c.2661C>T:p.Ser887=	coding	Benign/Likely_benign
1	210683718	C	T	C210683718T	KCNH1	NM_172362.3(KCNH1):c.2533G>A:p.Gly845Arg	coding	Benign
1	210683719	G	A	G210683719A	KCNH1	NM_172362.3(KCNH1):c.2532C>T:p.Cys844=	coding	Benign
1	210683774	C	A	C210683774A	KCNH1	NM_172362.3(KCNH1):c.2477G>T:p.Gly826Val	coding	Benign
1	210683817	C	T	C210683817T	KCNH1	NM_172362.3(KCNH1):c.2434G>A:p.Ala812Thr	coding	Benign/Likely_benign
1	210683832	C	T	C210683832T	KCNH1	NM_172362.3(KCNH1):c.2419G>A:p.Gly807Arg	coding	Benign
1	210683879	C	T	C210683879T	KCNH1	NM_172362.3(KCNH1):c.2372G>A:p.Arg791His	coding	Benign/Likely_benign
1	210683885	G	A	G210683885A	KCNH1	NM_172362.3(KCNH1):c.2366C>T:p.Thr789Ile	coding	Benign
1	210683924	G	C	G210683924C	KCNH1	NM_172362.3(KCNH1):c.2327C>G:p.Ala776Gly	coding	Benign/Likely_benign
1	210683975	C	T	C210683975T	KCNH1	NM_172362.3(KCNH1):c.2276G>A:p.Arg759Gln	coding	Benign/Likely_benign
1	210684071	G	A	G210684071A	KCNH1	NM_172362.3(KCNH1):c.2180C>T:p.Ala727Val	coding	Benign
1	210684089	A	G	A210684089G	KCNH1	NM_172362.3(KCNH1):c.2162T>C:p.Met721Thr	coding	Benign
1	210684093	G	A	G210684093A	KCNH1	NM_172362.3(KCNH1):c.2158C>T:p.Arg720Cys	coding	Benign
1	210684115	A	G	A210684115G	KCNH1	NM_172362.3(KCNH1):c.2136T>C:p.Asp712=	coding	Benign
1	210775321	G	A	G210775321A	KCNH1	NM_172362.3(KCNH1):c.2112+27C>T	noncoding	Benign
1	210775776	T	C	T210775776C	KCNH1	NM_172362.3(KCNH1):c.1916-232A>G	noncoding	Benign
1	210797626	C	T	C210797626T	KCNH1	NM_172362.3(KCNH1):c.1797G>A:p.Thr599=	coding	Benign/Likely_benign
1	210797633	A	G	A210797633G	KCNH1	NM_172362.3(KCNH1):c.1790T>C:p.Phe597Ser	coding	Pathogenic
1	210797683	C	T	C210797683T	KCNH1	NM_172362.3(KCNH1):c.1740G>A:p.Pro580=	coding	Benign
1	210797719	G	A	G210797719A	KCNH1	NM_172362.3(KCNH1):c.1704C>T:p.Cys568=	coding	Benign
1	210803774	G	T	G210803774T	KCNH1	NM_172362.3(KCNH1):c.1662+193C>A	noncoding	Benign
1	210803837	C	G	C210803837G	KCNH1	NM_172362.3(KCNH1):c.1662+130G>C	noncoding	Benign
1	210804180	G	C	G210804180C	KCNH1	NM_172362.3(KCNH1):c.1463-14C>G	noncoding	Benign/Likely_benign
1	210919359	T	C	T210919359C	KCNH1	NM_172362.3(KCNH1):c.1462+281A>G	noncoding	Benign
1	210919591	C	T	C210919591T	KCNH1	NM_172362.3(KCNH1):c.1462+49G>A	noncoding	Benign
1	210919603	G	A	G210919603A	KCNH1	NM_172362.3(KCNH1):c.1462+37C>T	noncoding	Benign
1	210919723	C	T	C210919723T	KCNH1	NM_172362.3(KCNH1):c.1379G>A:p.Ser460Asn	coding	Pathogenic
1	210919966	A	G	A210919966G	KCNH1	NM_172362.3(KCNH1):c.1136T>C:p.Leu379Pro	coding	Pathogenic/Likely_pathogenic
1	210920004	A	C	A210920004C	KCNH1	NM_172362.3(KCNH1):c.1098T>G:p.Arg366=	coding	Benign
1	210920024	G	A	G210920024A	KCNH1	NM_172362.3(KCNH1):c.1078C>T:p.Arg360Cys	coding	Pathogenic
1	210920248	C	T	C210920248T	KCNH1	NM_172362.3(KCNH1):c.1033-179G>A	noncoding	Benign
1	211018552	G	A	G211018552A	KCNH1	NM_172362.3(KCNH1):c.1032+231C>T	noncoding	Benign
1	211018933	C	T	C211018933T	KCNH1	NM_172362.3(KCNH1):c.882G>A:p.Thr294=	coding	Benign/Likely_benign
1	211018986	C	A	C211018986A	KCNH1	NM_172362.3(KCNH1):c.829G>T:p.Ala277Ser	coding	Benign
1	211019365	G	A	G211019365A	KCNH1	NM_172362.3(KCNH1):c.559-109C>T	noncoding	Benign
1	211019452	T	C	T211019452C	KCNH1	NM_172362.3(KCNH1):c.559-196A>G	noncoding	Benign
1	211019581	C	T	C211019581T	KCNH1	NM_172362.3(KCNH1):c.559-325G>A	noncoding	Benign
1	211082594	G	A	G211082594A	KCNH1	NM_172362.3(KCNH1):c.558+186C>T	noncoding	Benign
1	211082753	C	G	C211082753G	KCNH1	NM_172362.3(KCNH1):c.558+27G>C	noncoding	Benign
1	211090272	T	C	T211090272C	KCNH1	NM_172362.3(KCNH1):c.439+290A>G	noncoding	Benign
1	211090315	A	G	A211090315G	KCNH1	NM_172362.3(KCNH1):c.439+247T>C	noncoding	Benign
1	211090494	T	A	T211090494A	KCNH1	NM_172362.3(KCNH1):c.439+68A>T	noncoding	Benign
1	211090558	A	C	A211090558C	KCNH1	NM_172362.3(KCNH1):c.439+4T>G	noncoding	Benign
1	211090798	A	G	A211090798G	KCNH1	NM_172362.3(KCNH1):c.311-108T>C	noncoding	Benign
1	211103524	G	A	G211103524A	KCNH1	NM_172362.3(KCNH1):c.282C>T:p.Ser94=	coding	Benign/Likely_benign
1	211103609	A	C	A211103609C	KCNH1	NM_172362.3(KCNH1):c.204-7T>G	noncoding	Benign
1	211107395	A	C	A211107395C	KCNH1	NM_172362.3(KCNH1):c.80-18T>G	noncoding	Benign
1	211107531	T	C	T211107531C	KCNH1	NM_172362.3(KCNH1):c.80-154A>G	noncoding	Benign
1	211133833	G	T	G211133833T	KCNH1	NM_172362.3(KCNH1):c.79+34C>A	noncoding	Benign
1	211133839	G	A	G211133839A	KCNH1	NM_172362.3(KCNH1):c.79+28C>T	noncoding	Benign
1	211133868	A	G	A211133868G	KCNH1	NM_172362.3(KCNH1):c.78T>C:p.Asn26=	coding	Benign
1	211134065	C	A	C211134065A	KCNH1	NM_172362.3(KCNH1):c.-120G>T	noncoding	Benign
1	211481102	C	T	C211481102T	RD3	NM_001164688.2(RD3):c.296+18G>A	noncoding	Benign
1	211667156	T	C	T211667156C	NEK2	NM_002497.4(NEK2):c.1061A>G:p.Asn354Ser	coding	Benign
1	211667241	G	T	G211667241T	NEK2	NM_002497.4(NEK2):c.986-10C>A	noncoding	Benign
1	211669210	C	T	C211669210T	NEK2	NM_002497.4(NEK2):c.888G>A:p.Ser296=	coding	Benign
1	211674505	A	G	A211674505G	NEK2	NM_002497.4(NEK2):c.105T>C:p.Val35=	coding	Benign
1	212858455	G	T	G212858455T	FLVCR1	NM_014053.4(FLVCR1):c.3G>T:p.Met1Ile	coding	Pathogenic
1	212863728	G	T	G212863728T	FLVCR1	NM_014053.4(FLVCR1):c.742G>T:p.Gly248Ter	coding	Pathogenic/Likely_pathogenic
1	212872666	G	A	G212872666A	FLVCR1	NM_014053.4(FLVCR1):c.884-12G>A	noncoding	Benign
1	212885369	T	G	T212885369G	FLVCR1	NM_014053.4(FLVCR1):c.1169T>G:p.Leu390Ter	coding	Pathogenic
1	212887892	C	T	C212887892T	FLVCR1	NM_014053.4(FLVCR1):c.1198C>T:p.Gln400Ter	coding	Pathogenic
1	212887996	G	C	G212887996C	FLVCR1	NM_014053.4(FLVCR1):c.1302G>C:p.Val434=	coding	Benign
1	213070988	A	C	A213070988C	RPS6KC1	NM_012424.6(RPS6KC1):c.106-18A>C	noncoding	Benign
1	213070988	A	G	A213070988G	RPS6KC1	NM_012424.6(RPS6KC1):c.106-18A>G	noncoding	Benign
1	213104476	C	A	C213104476A	RPS6KC1	NM_012424.6(RPS6KC1):c.285C>A:p.Ile95=	coding	Benign
1	213129664	C	G	C213129664G	RPS6KC1	NM_012424.6(RPS6KC1):c.610C>G:p.Leu204Val	coding	Benign
1	213129676	G	T	G213129676T	RPS6KC1	NM_012424.6(RPS6KC1):c.622G>T:p.Ala208Ser	coding	Benign
1	213129907	T	C	T213129907C	RPS6KC1	NM_012424.6(RPS6KC1):c.835+18T>C	noncoding	Benign
1	213167847	T	C	T213167847C	RPS6KC1	NM_012424.6(RPS6KC1):c.836-11T>C	noncoding	Benign
1	213176404	C	T	C213176404T	RPS6KC1	NM_012424.6(RPS6KC1):c.956C>T:p.Pro319Leu	coding	Benign
1	213230486	C	T	C213230486T	RPS6KC1	NM_012424.6(RPS6KC1):c.1045-11C>T	noncoding	Benign
1	213232263	T	G	T213232263G	RPS6KC1	NM_012424.6(RPS6KC1):c.1225+8T>G	noncoding	Benign
1	213241036	G	A	G213241036A	RPS6KC1	NM_012424.6(RPS6KC1):c.1560G>A:p.Gly520=	coding	Benign
1	213241200	A	G	A213241200G	RPS6KC1	NM_012424.6(RPS6KC1):c.1724A>G:p.Asn575Ser	coding	Benign
1	213241948	A	C	A213241948C	RPS6KC1	NM_012424.6(RPS6KC1):c.2472A>C:p.Pro824=	coding	Benign
1	213242035	G	T	G213242035T	RPS6KC1	NM_012424.6(RPS6KC1):c.2559G>T:p.Leu853Phe	coding	Benign
1	213242633	C	T	C213242633T	RPS6KC1	NM_012424.6(RPS6KC1):c.2886C>T:p.Ala962=	coding	Benign
1	213262759	C	T	C213262759T	RPS6KC1	NM_012424.6(RPS6KC1):c.3033C>T:p.His1011=	coding	Benign
1	213272511	C	T	C213272511T	RPS6KC1	NM_012424.6(RPS6KC1):c.3091-13C>T	noncoding	Benign
1	214357896	C	T	C214357896T	PTPN14	NM_005401.5(PTPN14):c.*26G>A	noncoding	Benign
1	214364206	C	T	C214364206T	PTPN14	NM_005401.5(PTPN14):c.3435+306G>A	noncoding	Benign
1	214364284	C	T	C214364284T	PTPN14	NM_005401.5(PTPN14):c.3435+228G>A	noncoding	Benign
1	214364943	A	T	A214364943T	PTPN14	NM_005401.5(PTPN14):c.3272-268T>A	noncoding	Benign
1	214369325	T	C	T214369325C	PTPN14	NM_005401.5(PTPN14):c.3271+132A>G	noncoding	Benign
1	214369476	T	C	T214369476C	PTPN14	NM_005401.5(PTPN14):c.3252A>G:p.Glu1084=	coding	Benign
1	214369755	A	G	A214369755G	PTPN14	NM_005401.5(PTPN14):c.3037-64T>C	noncoding	Benign
1	214372417	T	G	T214372417G	PTPN14	NM_005401.5(PTPN14):c.3036+294A>C	noncoding	Benign
1	214373141	G	A	G214373141A	PTPN14	NM_005401.5(PTPN14):c.2908-302C>T	noncoding	Benign
1	214376158	C	T	C214376158T	PTPN14	NM_005401.5(PTPN14):c.2907+61G>A	noncoding	Benign
1	214377933	G	A	G214377933A	PTPN14	NM_005401.5(PTPN14):c.2688+26C>T	noncoding	Benign
1	214378183	T	C	T214378183C	PTPN14	NM_005401.5(PTPN14):c.2545-81A>G	noncoding	Benign
1	214378283	C	T	C214378283T	PTPN14	NM_005401.5(PTPN14):c.2545-181G>A	noncoding	Benign
1	214383140	T	A	T214383140A	PTPN14	NM_005401.5(PTPN14):c.2544+171A>T	noncoding	Benign
1	214383197	C	T	C214383197T	PTPN14	NM_005401.5(PTPN14):c.2544+114G>A	noncoding	Benign
1	214384885	A	G	A214384885G	PTPN14	NM_005401.5(PTPN14):c.1067-97T>C	noncoding	Benign
1	214386950	G	T	G214386950T	PTPN14	NM_005401.5(PTPN14):c.988-28C>A	noncoding	Benign
1	214390834	C	T	C214390834T	PTPN14	NM_005401.5(PTPN14):c.987+154G>A	noncoding	Benign
1	214390848	A	C	A214390848C	PTPN14	NM_005401.5(PTPN14):c.987+140T>G	noncoding	Benign
1	214390997	T	C	T214390997C	PTPN14	NM_005401.5(PTPN14):c.978A>G:p.Arg326=	coding	Benign
1	214391099	C	G	C214391099G	PTPN14	NM_005401.5(PTPN14):c.930-54G>C	noncoding	Benign
1	214393502	A	G	A214393502G	PTPN14	NM_005401.5(PTPN14):c.929+193T>C	noncoding	Benign
1	214393609	A	G	A214393609G	PTPN14	NM_005401.5(PTPN14):c.929+86T>C	noncoding	Benign
1	214394035	A	G	A214394035G	PTPN14	NM_005401.5(PTPN14):c.847-258T>C	noncoding	Benign
1	214395128	C	A	C214395128A	PTPN14	NM_005401.5(PTPN14):c.759-142G>T	noncoding	Benign
1	214397627	C	T	C214397627T	PTPN14	NM_005401.5(PTPN14):c.758+286G>A	noncoding	Benign
1	214397908	A	C	A214397908C	PTPN14	NM_005401.5(PTPN14):c.758+5T>G	noncoding	Benign
1	214398184	C	G	C214398184G	PTPN14	NM_005401.5(PTPN14):c.670-183G>C	noncoding	Benign
1	214401779	T	C	T214401779C	PTPN14	NM_005401.5(PTPN14):c.582-7A>G	noncoding	Benign
1	214402736	G	A	G214402736A	PTPN14	NM_005401.5(PTPN14):c.581+147C>T	noncoding	Benign
1	214402878	C	T	C214402878T	PTPN14	NM_005401.5(PTPN14):c.581+5G>A	noncoding	Benign/Likely_benign
1	214402898	T	C	T214402898C	PTPN14	NM_005401.5(PTPN14):c.566A>G:p.Glu189Gly	coding	Benign
1	214403011	T	C	T214403011C	PTPN14	NM_005401.5(PTPN14):c.511-58A>G	noncoding	Benign
1	214403111	C	A	C214403111A	PTPN14	NM_005401.5(PTPN14):c.511-158G>T	noncoding	Benign
1	214403139	C	T	C214403139T	PTPN14	NM_005401.5(PTPN14):c.511-186G>A	noncoding	Benign
1	214403170	C	T	C214403170T	PTPN14	NM_005401.5(PTPN14):c.511-217G>A	noncoding	Benign
1	214452088	A	G	A214452088G	PTPN14	NM_005401.5(PTPN14):c.175-114T>C	noncoding	Benign
1	214464465	C	T	C214464465T	PTPN14	NM_005401.5(PTPN14):c.174+165G>A	noncoding	Benign
1	214464539	A	G	A214464539G	PTPN14	NM_005401.5(PTPN14):c.174+91T>C	noncoding	Benign
1	214464829	C	T	C214464829T	PTPN14	NM_005401.5(PTPN14):c.-26G>A	noncoding	Benign
1	214464976	T	C	T214464976C	PTPN14	NM_005401.5(PTPN14):c.-154-19A>G	noncoding	Benign
1	214465004	A	G	A214465004G	PTPN14	NM_005401.5(PTPN14):c.-154-47T>C	noncoding	Benign
1	214465076	G	T	G214465076T	PTPN14	NM_005401.5(PTPN14):c.-154-119C>A	noncoding	Benign
1	214465093	G	A	G214465093A	PTPN14	NM_005401.5(PTPN14):c.-154-136C>T	noncoding	Benign
1	214465191	A	G	A214465191G	PTPN14	NM_005401.5(PTPN14):c.-154-234T>C	noncoding	Benign
1	214465241	T	A	T214465241A	PTPN14	NM_005401.5(PTPN14):c.-154-284A>T	noncoding	Benign
1	214465302	G	A	G214465302A	PTPN14	NM_005401.5(PTPN14):c.-154-345C>T	noncoding	Benign
1	214613787	G	A	G214613787A	CENPF	NM_016343.4(CENPF):c.33G>A:p.Gly11=	coding	Benign
1	214614087	A	G	A214614087G	CENPF	NM_016343.4(CENPF):c.162+171A>G	noncoding	Benign
1	214614200	A	G	A214614200G	CENPF	NM_016343.4(CENPF):c.162+284A>G	noncoding	Benign
1	214618937	A	G	A214618937G	CENPF	NM_016343.4(CENPF):c.482-192A>G	noncoding	Benign
1	214619179	C	T	C214619179T	CENPF	NM_016343.4(CENPF):c.532C>T:p.Arg178Ter	coding	Pathogenic
1	214620470	G	A	G214620470A	CENPF	NM_016343.4(CENPF):c.574-185G>A	noncoding	Benign
1	214621183	C	G	C214621183G	CENPF	NM_016343.4(CENPF):c.865+237C>G	noncoding	Benign
1	214621213	T	A	T214621213A	CENPF	NM_016343.4(CENPF):c.865+267T>A	noncoding	Benign
1	214622296	G	A	G214622296A	CENPF	NM_016343.4(CENPF):c.1068+15G>A	noncoding	Benign/Likely_benign
1	214622451	C	T	C214622451T	CENPF	NM_016343.4(CENPF):c.1068+170C>T	noncoding	Benign
1	214622556	T	C	T214622556C	CENPF	NM_016343.4(CENPF):c.1068+275T>C	noncoding	Benign
1	214628956	C	T	C214628956T	CENPF	NM_016343.4(CENPF):c.1069-90C>T	noncoding	Benign
1	214630561	C	T	C214630561T	CENPF	NM_016343.4(CENPF):c.1222C>T:p.Gln408Ter	coding	Pathogenic
1	214630663	G	A	G214630663A	CENPF	NM_016343.4(CENPF):c.1323+1G>A	coding	Pathogenic
1	214630698	C	A	C214630698A	CENPF	NM_016343.4(CENPF):c.1323+36C>A	noncoding	Benign
1	214632159	C	T	C214632159T	CENPF	NM_016343.4(CENPF):c.1324-321C>T	noncoding	Benign
1	214632189	G	A	G214632189A	CENPF	NM_016343.4(CENPF):c.1324-291G>A	noncoding	Benign
1	214637831	G	A	G214637831A	CENPF	NM_016343.4(CENPF):c.1447-35G>A	noncoding	Benign
1	214637901	C	G	C214637901G	CENPF	NM_016343.4(CENPF):c.1482C>G:p.His494Gln	coding	Benign
1	214639718	A	G	A214639718G	CENPF	NM_016343.4(CENPF):c.1583-203A>G	noncoding	Benign
1	214640144	A	G	A214640144G	CENPF	NM_016343.4(CENPF):c.1806A>G:p.Leu602=	coding	Benign
1	214640352	A	C	A214640352C	CENPF	NM_016343.4(CENPF):c.2014A>C:p.Arg672=	coding	Benign
1	214640598	C	G	C214640598G	CENPF	NM_016343.4(CENPF):c.2260C>G:p.Gln754Glu	coding	Benign
1	214640716	T	G	T214640716G	CENPF	NM_016343.4(CENPF):c.2378T>G:p.Met793Arg	coding	Benign
1	214640782	G	A	G214640782A	CENPF	NM_016343.4(CENPF):c.2444G>A:p.Arg815His	coding	Benign
1	214641228	C	T	C214641228T	CENPF	NM_016343.4(CENPF):c.2890C>T:p.Leu964=	coding	Benign
1	214641239	G	A	G214641239A	CENPF	NM_016343.4(CENPF):c.2901G>A:p.Arg967=	coding	Benign
1	214641390	T	G	T214641390G	CENPF	NM_016343.4(CENPF):c.3052T>G:p.Tyr1018Asp	coding	Benign
1	214641435	G	A	G214641435A	CENPF	NM_016343.4(CENPF):c.3097G>A:p.Gly1033Arg	coding	Benign
1	214641582	C	T	C214641582T	CENPF	NM_016343.4(CENPF):c.3244C>T:p.His1082Tyr	coding	Benign/Likely_benign
1	214641652	C	T	C214641652T	CENPF	NM_016343.4(CENPF):c.3314C>T:p.Thr1105Ile	coding	Benign
1	214641773	A	T	A214641773T	CENPF	NM_016343.4(CENPF):c.3435A>T:p.Glu1145Asp	coding	Benign
1	214642573	T	C	T214642573C	CENPF	NM_016343.4(CENPF):c.4235T>C:p.Leu1412Ser	coding	Benign
1	214642627	C	G	C214642627G	CENPF	NM_016343.4(CENPF):c.4289C>G:p.Ser1430Cys	coding	Benign/Likely_benign
1	214642799	T	G	T214642799G	CENPF	NM_016343.4(CENPF):c.4461T>G:p.Leu1487=	coding	Benign
1	214642881	G	A	G214642881A	CENPF	NM_016343.4(CENPF):c.4543G>A:p.Ala1515Thr	coding	Benign
1	214642954	A	G	A214642954G	CENPF	NM_016343.4(CENPF):c.4616A>G:p.Lys1539Arg	coding	Benign
1	214643372	G	A	G214643372A	CENPF	NM_016343.4(CENPF):c.4986+48G>A	noncoding	Benign
1	214643375	C	T	C214643375T	CENPF	NM_016343.4(CENPF):c.4986+51C>T	noncoding	Benign
1	214644569	C	T	C214644569T	CENPF	NM_016343.4(CENPF):c.4999C>T:p.Arg1667Ter	coding	Pathogenic/Likely_pathogenic
1	214644678	A	G	A214644678G	CENPF	NM_016343.4(CENPF):c.5108A>G:p.Asn1703Ser	coding	Benign
1	214644872	G	A	G214644872A	CENPF	NM_016343.4(CENPF):c.5302G>A:p.Asp1768Asn	coding	Benign
1	214644880	T	A	T214644880A	CENPF	NM_016343.4(CENPF):c.5310T>A:p.His1770Gln	coding	Benign
1	214645205	C	T	C214645205T	CENPF	NM_016343.4(CENPF):c.5635C>T:p.Arg1879Cys	coding	Benign/Likely_benign
1	214645461	G	A	G214645461A	CENPF	NM_016343.4(CENPF):c.5891G>A:p.Arg1964His	coding	Benign/Likely_benign
1	214645503	A	G	A214645503G	CENPF	NM_016343.4(CENPF):c.5933A>G:p.Asp1978Gly	coding	Benign
1	214645602	A	C	A214645602C	CENPF	NM_016343.4(CENPF):c.6032A>C:p.Glu2011Ala	coding	Benign
1	214645683	A	C	A214645683C	CENPF	NM_016343.4(CENPF):c.6113A>C:p.Gln2038Pro	coding	Benign
1	214645701	C	T	C214645701T	CENPF	NM_016343.4(CENPF):c.6131C>T:p.Ser2044Leu	coding	Benign
1	214645985	G	A	G214645985A	CENPF	NM_016343.4(CENPF):c.6415G>A:p.Ala2139Thr	coding	Benign
1	214646244	A	G	A214646244G	CENPF	NM_016343.4(CENPF):c.6674A>G:p.Gln2225Arg	coding	Benign
1	214646637	C	T	C214646637T	CENPF	NM_016343.4(CENPF):c.7067C>T:p.Ala2356Val	coding	Benign
1	214646756	A	G	A214646756G	CENPF	NM_016343.4(CENPF):c.7186A>G:p.Asn2396Asp	coding	Benign
1	214646956	A	G	A214646956G	CENPF	NM_016343.4(CENPF):c.7386A>G:p.Glu2462=	coding	Benign
1	214647151	G	A	G214647151A	CENPF	NM_016343.4(CENPF):c.7581G>A:p.Leu2527=	coding	Benign
1	214647181	T	C	T214647181C	CENPF	NM_016343.4(CENPF):c.7611T>C:p.Leu2537=	coding	Benign
1	214647590	A	G	A214647590G	CENPF	NM_016343.4(CENPF):c.7830+190A>G	noncoding	Benign
1	214648472	A	C	A214648472C	CENPF	NM_016343.4(CENPF):c.7831-203A>C	noncoding	Benign
1	214648616	G	A	G214648616A	CENPF	NM_016343.4(CENPF):c.7831-59G>A	noncoding	Benign
1	214649098	C	T	C214649098T	CENPF	NM_016343.4(CENPF):c.7983+271C>T	noncoding	Benign
1	214652742	T	C	T214652742C	CENPF	NM_016343.4(CENPF):c.8161-86T>C	noncoding	Benign
1	214652853	G	A	G214652853A	CENPF	NM_016343.4(CENPF):c.8186G>A:p.Arg2729Gln	coding	Benign
1	214653021	G	A	G214653021A	CENPF	NM_016343.4(CENPF):c.8322+32G>A	noncoding	Benign
1	214653127	C	A	C214653127A	CENPF	NM_016343.4(CENPF):c.8322+138C>A	noncoding	Benign
1	214654960	T	C	T214654960C	CENPF	NM_016343.4(CENPF):c.8323-281T>C	noncoding	Benign
1	214655007	T	C	T214655007C	CENPF	NM_016343.4(CENPF):c.8323-234T>C	noncoding	Benign
1	214655015	A	G	A214655015G	CENPF	NM_016343.4(CENPF):c.8323-226A>G	noncoding	Benign
1	214655090	C	G	C214655090G	CENPF	NM_016343.4(CENPF):c.8323-151C>G	noncoding	Benign
1	214655469	A	G	A214655469G	CENPF	NM_016343.4(CENPF):c.8485+66A>G	noncoding	Benign
1	214655545	A	G	A214655545G	CENPF	NM_016343.4(CENPF):c.8485+142A>G	noncoding	Benign
1	214656799	A	T	A214656799T	CENPF	NM_016343.4(CENPF):c.8486-134A>T	noncoding	Benign
1	214657233	C	G	C214657233G	CENPF	NM_016343.4(CENPF):c.8786C>G:p.Ser2929Ter	coding	Pathogenic
1	214657274	A	G	A214657274G	CENPF	NM_016343.4(CENPF):c.8827A>G:p.Arg2943Gly	coding	Benign
1	214657565	A	G	A214657565G	CENPF	NM_016343.4(CENPF):c.8962+156A>G	noncoding	Benign
1	214657741	C	T	C214657741T	CENPF	NM_016343.4(CENPF):c.8962+332C>T	noncoding	Benign
1	214663767	C	G	C214663767G	CENPF	NM_016343.4(CENPF):c.9318C>G:p.Asn3106Lys	coding	Benign
1	214663867	T	C	T214663867C	CENPF	NM_016343.4(CENPF):c.*73T>C	noncoding	Benign
1	214663993	G	A	G214663993A	CENPF	NM_016343.4(CENPF):c.*199G>A	noncoding	Benign
1	215625538	C	A	C215625538A	USH2A	NM_206933.4(USH2A):c.*243G>T	noncoding	Benign
1	215625732	T	G	T215625732G	USH2A	NM_206933.4(USH2A):c.*49A>C	noncoding	Benign
1	215625777	T	C	T215625777C	USH2A	NM_206933.4(USH2A):c.*4A>G	noncoding	Benign/Likely_benign
1	215626064	T	A	T215626064A	USH2A	NM_206933.4(USH2A):c.15520-194A>T	noncoding	Benign
1	215628791	C	T	C215628791T	USH2A	NM_206933.4(USH2A):c.15519+23G>A	noncoding	Benign
1	215634402	A	G	A215634402G	USH2A	NM_206933.4(USH2A):c.15297+57T>C	noncoding	Benign
1	215634509	G	A	G215634509A	USH2A	NM_206933.4(USH2A):c.15247C>T:p.Gln5083Ter	coding	Pathogenic
1	215634548	C	A	C215634548A	USH2A	NM_206933.4(USH2A):c.15208G>T:p.Glu5070Ter	coding	Pathogenic
1	215634630	C	T	C215634630T	USH2A	NM_206933.4(USH2A):c.15126G>A:p.Trp5042Ter	coding	Pathogenic
1	215634631	C	T	C215634631T	USH2A	NM_206933.4(USH2A):c.15125G>A:p.Trp5042Ter	coding	Pathogenic
1	215634707	C	A	C215634707A	USH2A	NM_206933.4(USH2A):c.15053-4G>T	noncoding	Benign
1	215634721	A	C	A215634721C	USH2A	NM_206933.4(USH2A):c.15053-18T>G	noncoding	Benign
1	215639499	C	T	C215639499T	USH2A	NM_206933.4(USH2A):c.14969-261G>A	noncoding	Benign
1	215640319	G	A	G215640319A	USH2A	NM_206933.4(USH2A):c.14968+239C>T	noncoding	Benign
1	215640478	G	C	G215640478C	USH2A	NM_206933.4(USH2A):c.14968+80C>G	noncoding	Benign
1	215640502	G	A	G215640502A	USH2A	NM_206933.4(USH2A):c.14968+56C>T	noncoding	Benign
1	215640621	C	A	C215640621A	USH2A	NM_206933.4(USH2A):c.14905G>T:p.Gly4969Ter	coding	Pathogenic
1	215647520	A	T	A215647520T	USH2A	NM_206933.4(USH2A):c.14791+2T>A	noncoding	Pathogenic/Likely_pathogenic
1	215648089	A	G	A215648089G	USH2A	NM_206933.4(USH2A):c.14583-359T>C	noncoding	Benign
1	215648332	G	A	G215648332A	USH2A	NM_206933.4(USH2A):c.14582+196C>T	noncoding	Benign
1	215648564	C	T	C215648564T	USH2A	NM_206933.4(USH2A):c.14546G>A:p.Trp4849Ter	coding	Pathogenic/Likely_pathogenic
1	215648621	G	C	G215648621C	USH2A	NM_206933.4(USH2A):c.14489C>G:p.Ser4830Ter	coding	Pathogenic
1	215650650	T	C	T215650650C	USH2A	NM_206933.4(USH2A):c.14285A>G:p.Asn4762Ser	coding	Pathogenic/Likely_pathogenic
1	215650754	C	T	C215650754T	USH2A	NM_206933.4(USH2A):c.14181G>A:p.Trp4727Ter	coding	Pathogenic
1	215670738	G	C	G215670738C	USH2A	NM_206933.4(USH2A):c.14133+234C>G	noncoding	Benign
1	215670981	A	C	A215670981C	USH2A	NM_206933.4(USH2A):c.14124T>G:p.Tyr4708Ter	coding	Pathogenic
1	215671004	C	A	C215671004A	USH2A	NM_206933.4(USH2A):c.14101G>T:p.Glu4701Ter	coding	Pathogenic
1	215671112	C	A	C215671112A	USH2A	NM_206933.4(USH2A):c.13993G>T:p.Gly4665Ter	coding	Pathogenic
1	215674119	G	A	G215674119A	USH2A	NM_206933.4(USH2A):c.13792C>T:p.Gln4598Ter	coding	Pathogenic
1	215674133	G	T	G215674133T	USH2A	NM_206933.4(USH2A):c.13778C>A:p.Ser4593Ter	coding	Pathogenic
1	215674256	C	T	C215674256T	USH2A	NM_206933.4(USH2A):c.13655G>A:p.Trp4552Ter	coding	Pathogenic
1	215674430	T	C	T215674430C	USH2A	NM_206933.4(USH2A):c.13481A>G:p.Tyr4494Cys	coding	Pathogenic
1	215674494	G	A	G215674494A	USH2A	NM_206933.4(USH2A):c.13417C>T:p.Gln4473Ter	coding	Pathogenic
1	215674518	T	A	T215674518A	USH2A	NM_206933.4(USH2A):c.13393A>T:p.Lys4465Ter	coding	Pathogenic
1	215674519	C	T	C215674519T	USH2A	NM_206933.4(USH2A):c.13392G>A:p.Trp4464Ter	coding	Pathogenic
1	215674530	C	A	C215674530A	USH2A	NM_206933.4(USH2A):c.13381G>T:p.Glu4461Ter	coding	Pathogenic
1	215674541	G	C	G215674541C	USH2A	NM_206933.4(USH2A):c.13370C>G:p.Ser4457Ter	coding	Pathogenic
1	215674696	G	T	G215674696T	USH2A	NM_206933.4(USH2A):c.13215C>A:p.Cys4405Ter	coding	Pathogenic
1	215674911	G	A	G215674911A	USH2A	NM_206933.4(USH2A):c.13000C>T:p.Gln4334Ter	coding	Pathogenic
1	215674924	A	C	A215674924C	USH2A	NM_206933.4(USH2A):c.12987T>G:p.Tyr4329Ter	coding	Pathogenic
1	215674953	C	G	C215674953G	USH2A	NM_206933.4(USH2A):c.12958G>C:p.Asp4320His	coding	Pathogenic
1	215675025	G	A	G215675025A	USH2A	NM_206933.4(USH2A):c.12886C>T:p.Gln4296Ter	coding	Pathogenic
1	215675183	C	T	C215675183T	USH2A	NM_206933.4(USH2A):c.12728G>A:p.Trp4243Ter	coding	Pathogenic
1	215675203	A	T	A215675203T	USH2A	NM_206933.4(USH2A):c.12708T>A:p.Cys4236Ter	coding	Pathogenic
1	215675215	T	C	T215675215C	USH2A	NM_206933.4(USH2A):c.12696A>G:p.Pro4232=	coding	Benign/Likely_benign
1	215675439	G	A	G215675439A	USH2A	NM_206933.4(USH2A):c.12472C>T:p.Gln4158Ter	coding	Pathogenic
1	215675555	A	G	A215675555G	USH2A	NM_206933.4(USH2A):c.12356T>C:p.Phe4119Ser	coding	Pathogenic
1	215675596	G	A	G215675596A	USH2A	NM_206933.4(USH2A):c.12315C>T:p.Asp4105=	coding	Benign
1	215675702	C	G	C215675702G	USH2A	NM_206933.4(USH2A):c.12295-86G>C	noncoding	Benign
1	215675744	T	A	T215675744A	USH2A	NM_206933.4(USH2A):c.12295-128A>T	noncoding	Benign
1	215680015	G	A	G215680015A	USH2A	NM_206933.4(USH2A):c.12294+134C>T	noncoding	Benign
1	215680147	A	G	A215680147G	USH2A	NM_206933.4(USH2A):c.12294+2T>C	noncoding	Pathogenic
1	215680148	C	G	C215680148G	USH2A	NM_206933.4(USH2A):c.12294+1G>C	noncoding	Pathogenic/Likely_pathogenic
1	215680175	G	T	G215680175T	USH2A	NM_206933.4(USH2A):c.12268C>A:p.Pro4090Thr	coding	Pathogenic/Likely_pathogenic
1	215680292	C	A	C215680292A	USH2A	NM_206933.4(USH2A):c.12151G>T:p.Glu4051Ter	coding	Pathogenic/Likely_pathogenic
1	215680343	C	A	C215680343A	USH2A	NM_206933.4(USH2A):c.12100G>T:p.Glu4034Ter	coding	Pathogenic
1	215680350	G	A	G215680350A	USH2A	NM_206933.4(USH2A):c.12093C>T:p.Tyr4031=	coding	Benign/Likely_benign
1	215680493	A	G	A215680493G	USH2A	NM_206933.4(USH2A):c.12067-117T>C	noncoding	Benign
1	215680558	G	C	G215680558C	USH2A	NM_206933.4(USH2A):c.12067-182C>G	noncoding	Benign
1	215680673	A	C	A215680673C	USH2A	NM_206933.4(USH2A):c.12067-297T>G	noncoding	Benign
1	215728090	G	T	G215728090T	USH2A	NM_206933.4(USH2A):c.12006C>A:p.Tyr4002Ter	coding	Pathogenic
1	215728141	C	T	C215728141T	USH2A	NM_206933.4(USH2A):c.11955G>A:p.Trp3985Ter	coding	Pathogenic
1	215728221	G	A	G215728221A	USH2A	NM_206933.4(USH2A):c.11875C>T:p.Gln3959Ter	coding	Pathogenic
1	215728488	T	A	T215728488A	USH2A	NM_206933.4(USH2A):c.11712-104A>T	noncoding	Benign
1	215728709	A	G	A215728709G	USH2A	NM_206933.4(USH2A):c.11712-325T>C	noncoding	Benign
1	215741130	C	A	C215741130A	USH2A	NM_206933.4(USH2A):c.11711+245G>T	noncoding	Benign
1	215741304	T	A	T215741304A	USH2A	NM_206933.4(USH2A):c.11711+71A>T	noncoding	Benign/Likely_benign
1	215741377	G	C	G215741377C	USH2A	NM_206933.4(USH2A):c.11709C>G:p.Tyr3903Ter	coding	Pathogenic
1	215741386	G	T	G215741386T	USH2A	NM_206933.4(USH2A):c.11700C>A:p.Tyr3900Ter	coding	Pathogenic
1	215742894	C	T	C215742894T	USH2A	NM_206933.4(USH2A):c.11548+283G>A	noncoding	Benign
1	215743079	C	T	C215743079T	USH2A	NM_206933.4(USH2A):c.11548+98G>A	noncoding	Benign
1	215743210	G	A	G215743210A	USH2A	NM_206933.4(USH2A):c.11515C>T:p.Gln3839Ter	coding	Pathogenic
1	215743388	G	A	G215743388A	USH2A	NM_206933.4(USH2A):c.11390-53C>T	noncoding	Benign
1	215743390	G	A	G215743390A	USH2A	NM_206933.4(USH2A):c.11390-55C>T	noncoding	Benign
1	215743404	G	A	G215743404A	USH2A	NM_206933.4(USH2A):c.11390-69C>T	noncoding	Benign
1	215743412	G	C	G215743412C	USH2A	NM_206933.4(USH2A):c.11390-77C>G	noncoding	Benign
1	215743414	G	A	G215743414A	USH2A	NM_206933.4(USH2A):c.11390-79C>T	noncoding	Benign
1	215743416	G	A	G215743416A	USH2A	NM_206933.4(USH2A):c.11390-81C>T	noncoding	Benign
1	215743418	A	G	A215743418G	USH2A	NM_206933.4(USH2A):c.11390-83T>C	noncoding	Benign
1	215743599	T	C	T215743599C	USH2A	NM_206933.4(USH2A):c.11390-264A>G	noncoding	Benign
1	215758749	G	T	G215758749T	USH2A	NM_206933.4(USH2A):c.11235C>A:p.Tyr3745Ter	coding	Pathogenic
1	215759073	G	C	G215759073C	USH2A	NM_206933.4(USH2A):c.11232-321C>G	noncoding	Benign
1	215759461	C	T	C215759461T	USH2A	NM_206933.4(USH2A):c.11231+199G>A	noncoding	Benign
1	215759615	G	A	G215759615A	USH2A	NM_206933.4(USH2A):c.11231+45C>T	noncoding	Benign/Likely_benign
1	215759785	C	T	C215759785T	USH2A	NM_206933.4(USH2A):c.11106G>A:p.Trp3702Ter	coding	Pathogenic
1	215759788	A	T	A215759788T	USH2A	NM_206933.4(USH2A):c.11103T>A:p.Tyr3701Ter	coding	Pathogenic
1	215779661	C	T	C215779661T	USH2A	NM_206933.4(USH2A):c.10939+182G>A	noncoding	Benign
1	215779953	C	T	C215779953T	USH2A	NM_206933.4(USH2A):c.10829G>A:p.Trp3610Ter	coding	Pathogenic
1	215779962	T	G	T215779962G	USH2A	NM_206933.4(USH2A):c.10820A>C:p.His3607Pro	coding	Pathogenic/Likely_pathogenic
1	215780042	C	A	C215780042A	USH2A	NM_206933.4(USH2A):c.10741-1G>T	coding	Pathogenic
1	215780264	C	T	C215780264T	USH2A	NM_206933.4(USH2A):c.10741-223G>A	noncoding	Benign
1	215782116	C	A	C215782116A	USH2A	NM_206933.4(USH2A):c.10666G>T:p.Gly3556Ter	coding	Pathogenic
1	215782170	G	A	G215782170A	USH2A	NM_206933.4(USH2A):c.10612C>T:p.Arg3538Ter	coding	Pathogenic
1	215782198	T	C	T215782198C	USH2A	NM_206933.4(USH2A):c.10586-2A>G	noncoding	Pathogenic/Likely_pathogenic
1	215782737	C	T	C215782737T	USH2A	NM_206933.4(USH2A):c.10585+1G>A	noncoding	Pathogenic
1	215782798	T	A	T215782798A	USH2A	NM_206933.4(USH2A):c.10525A>T:p.Lys3509Ter	coding	Pathogenic/Likely_pathogenic
1	215782877	A	T	A215782877T	USH2A	NM_206933.4(USH2A):c.10446T>A:p.Tyr3482Ter	coding	Pathogenic
1	215782886	C	T	C215782886T	USH2A	NM_206933.4(USH2A):c.10437G>A:p.Trp3479Ter	coding	Pathogenic
1	215782916	G	T	G215782916T	USH2A	NM_206933.4(USH2A):c.10407C>A:p.Tyr3469Ter	coding	Pathogenic/Likely_pathogenic
1	215782962	A	G	A215782962G	USH2A	NM_206933.4(USH2A):c.10388-27T>C	noncoding	Benign
1	215786860	G	T	G215786860T	USH2A	NM_206933.4(USH2A):c.10197C>A:p.Cys3399Ter	coding	Pathogenic/Likely_pathogenic
1	215786874	C	A	C215786874A	USH2A	NM_206933.4(USH2A):c.10183G>T:p.Glu3395Ter	coding	Pathogenic
1	215786886	G	A	G215786886A	USH2A	NM_206933.4(USH2A):c.10183-12C>T	noncoding	Benign/Likely_benign
1	215790032	G	A	G215790032A	USH2A	NM_206933.4(USH2A):c.10182+27C>T	noncoding	Benign
1	215790284	T	C	T215790284C	USH2A	NM_206933.4(USH2A):c.9959-2A>G	noncoding	Pathogenic
1	215790612	C	G	C215790612G	USH2A	NM_206933.4(USH2A):c.9959-330G>C	noncoding	Benign
1	215790625	G	T	G215790625T	USH2A	NM_206933.4(USH2A):c.9959-343C>A	noncoding	Benign
1	215794441	T	C	T215794441C	USH2A	NM_206933.4(USH2A):c.9959-4159A>G	noncoding	Pathogenic
1	215794515	T	C	T215794515C	USH2A	NM_206933.4(USH2A):c.9959-4233A>G	noncoding	Benign
1	215794583	A	G	A215794583G	USH2A	NM_206933.4(USH2A):c.9959-4301T>C	noncoding	Benign
1	215794732	C	T	C215794732T	USH2A	NM_206933.4(USH2A):c.9958+4175G>A	noncoding	Benign
1	215798634	C	T	C215798634T	USH2A	NM_206933.4(USH2A):c.9958+273G>A	noncoding	Benign
1	215798745	A	G	A215798745G	USH2A	NM_206933.4(USH2A):c.9958+162T>C	noncoding	Benign
1	215798779	T	C	T215798779C	USH2A	NM_206933.4(USH2A):c.9958+128A>G	noncoding	Benign
1	215798838	G	A	G215798838A	USH2A	NM_206933.4(USH2A):c.9958+69C>T	noncoding	Benign
1	215798991	G	A	G215798991A	USH2A	NM_206933.4(USH2A):c.9874C>T:p.Gln3292Ter	coding	Pathogenic
1	215799327	A	G	A215799327G	USH2A	NM_206933.4(USH2A):c.9740-202T>C	noncoding	Benign
1	215799384	A	G	A215799384G	USH2A	NM_206933.4(USH2A):c.9740-259T>C	noncoding	Benign
1	215813648	G	A	G215813648A	USH2A	NM_206933.4(USH2A):c.9739+88C>T	noncoding	Benign
1	215813734	A	G	A215813734G	USH2A	NM_206933.4(USH2A):c.9739+2T>C	noncoding	Pathogenic
1	215813752	G	C	G215813752C	USH2A	NM_206933.4(USH2A):c.9723C>G:p.Tyr3241Ter	coding	Pathogenic
1	215814031	C	T	C215814031T	USH2A	NM_206933.4(USH2A):c.9571-127G>A	noncoding	Benign
1	215814120	C	T	C215814120T	USH2A	NM_206933.4(USH2A):c.9571-216G>A	noncoding	Benign
1	215814172	A	C	A215814172C	USH2A	NM_206933.4(USH2A):c.9571-268T>G	noncoding	Benign
1	215817063	G	T	G215817063T	USH2A	NM_206933.4(USH2A):c.9504C>A:p.Cys3168Ter	coding	Pathogenic
1	215817127	C	T	C215817127T	USH2A	NM_206933.4(USH2A):c.9440G>A:p.Trp3147Ter	coding	Pathogenic/Likely_pathogenic
1	215817391	T	A	T215817391A	USH2A	NM_206933.4(USH2A):c.9372-196A>T	noncoding	Benign
1	215838450	G	T	G215838450T	USH2A	NM_206933.4(USH2A):c.9259-347C>A	noncoding	Benign
1	215844279	A	G	A215844279G	USH2A	NM_206933.4(USH2A):c.9258+15T>C	noncoding	Benign/Likely_benign
1	215844365	T	A	T215844365A	USH2A	NM_206933.4(USH2A):c.9187A>T:p.Lys3063Ter	coding	Pathogenic
1	215844433	C	T	C215844433T	USH2A	NM_206933.4(USH2A):c.9119G>A:p.Trp3040Ter	coding	Pathogenic/Likely_pathogenic
1	215866500	T	G	T215866500G	USH2A	NM_206933.4(USH2A):c.8845+507A>C	noncoding	Benign
1	215867223	T	C	T215867223C	USH2A	NM_206933.4(USH2A):c.8682-53A>G	noncoding	Benign
1	215877443	T	C	T215877443C	USH2A	NM_206933.4(USH2A):c.8681+315A>G	noncoding	Benign
1	215877755	C	T	C215877755T	USH2A	NM_206933.4(USH2A):c.8681+3G>A	noncoding	Benign
1	215877756	A	G	A215877756G	USH2A	NM_206933.4(USH2A):c.8681+2T>C	noncoding	Pathogenic
1	215877778	A	C	A215877778C	USH2A	NM_206933.4(USH2A):c.8661T>G:p.Tyr2887Ter	coding	Pathogenic
1	215877797	G	C	G215877797C	USH2A	NM_206933.4(USH2A):c.8642C>G:p.Ser2881Ter	coding	Pathogenic
1	215877821	A	C	A215877821C	USH2A	NM_206933.4(USH2A):c.8618T>G:p.Leu2873Ter	coding	Pathogenic
1	215877945	A	G	A215877945G	USH2A	NM_206933.4(USH2A):c.8559-65T>C	noncoding	Benign
1	215879207	A	G	A215879207G	USH2A	NM_206933.4(USH2A):c.8224-109T>C	noncoding	Benign
1	215888223	A	G	A215888223G	USH2A	NM_206933.4(USH2A):c.8223+203T>C	noncoding	Benign
1	215888508	C	T	C215888508T	USH2A	NM_206933.4(USH2A):c.8141G>A:p.Trp2714Ter	coding	Pathogenic
1	215888566	T	A	T215888566A	USH2A	NM_206933.4(USH2A):c.8083A>T:p.Lys2695Ter	coding	Pathogenic
1	215888647	C	A	C215888647A	USH2A	NM_206933.4(USH2A):c.8002G>T:p.Glu2668Ter	coding	Pathogenic
1	215888840	G	T	G215888840T	USH2A	NM_206933.4(USH2A):c.7809C>A:p.Cys2603Ter	coding	Pathogenic
1	215888861	A	T	A215888861T	USH2A	NM_206933.4(USH2A):c.7788T>A:p.Tyr2596Ter	coding	Pathogenic
1	215889362	T	G	T215889362G	USH2A	NM_206933.4(USH2A):c.7595-308A>C	noncoding	Benign
1	215891474	G	A	G215891474A	USH2A	NM_206933.4(USH2A):c.7595-2420C>T	noncoding	Benign
1	215891499	C	T	C215891499T	USH2A	NM_206933.4(USH2A):c.7595-2445G>A	noncoding	Benign
1	215899881	C	T	C215899881T	USH2A	NM_206933.4(USH2A):c.7594+194G>A	noncoding	Benign
1	215899932	C	T	C215899932T	USH2A	NM_206933.4(USH2A):c.7594+143G>A	noncoding	Benign
1	215900053	G	A	G215900053A	USH2A	NM_206933.4(USH2A):c.7594+22C>T	noncoding	Benign
1	215900075	T	A	T215900075A	USH2A	NM_206933.4(USH2A):c.7594A>T:p.Lys2532Ter	coding	Pathogenic
1	215900100	C	T	C215900100T	USH2A	NM_206933.4(USH2A):c.7569G>A:p.Trp2523Ter	coding	Pathogenic
1	215900215	A	T	A215900215T	USH2A	NM_206933.4(USH2A):c.7454T>A:p.Leu2485Ter	coding	Pathogenic
1	215900792	G	A	G215900792A	USH2A	NM_206933.4(USH2A):c.7414C>T:p.Gln2472Ter	coding	Pathogenic
1	215900906	C	T	C215900906T	USH2A	NM_206933.4(USH2A):c.7301-1G>A	coding	Pathogenic
1	215900970	G	A	G215900970A	USH2A	NM_206933.4(USH2A):c.7301-65C>T	noncoding	Benign
1	215934587	T	C	T215934587C	USH2A	NM_206933.4(USH2A):c.7300+29A>G	noncoding	Benign/Likely_benign
1	215934742	C	A	C215934742A	USH2A	NM_206933.4(USH2A):c.7174G>T:p.Glu2392Ter	coding	Pathogenic
1	215934748	C	A	C215934748A	USH2A	NM_206933.4(USH2A):c.7168G>T:p.Gly2390Ter	coding	Pathogenic
1	215965611	C	T	C215965611T	USH2A	NM_206933.4(USH2A):c.6958-132G>A	noncoding	Benign
1	215970737	A	C	A215970737C	USH2A	NM_206933.4(USH2A):c.6845T>G:p.Leu2282Ter	coding	Pathogenic
1	215993019	C	A	C215993019A	USH2A	NM_206933.4(USH2A):c.6805+1G>T	noncoding	Pathogenic/Likely_pathogenic
1	215993043	C	T	C215993043T	USH2A	NM_206933.4(USH2A):c.6782G>A:p.Trp2261Ter	coding	Pathogenic
1	215993103	G	A	G215993103A	USH2A	NM_206933.4(USH2A):c.6722C>T:p.Pro2241Leu	coding	Pathogenic/Likely_pathogenic
1	215993440	G	A	G215993440A	USH2A	NM_206933.4(USH2A):c.6658-273C>T	noncoding	Benign
1	215998687	C	A	C215998687A	USH2A	NM_206933.4(USH2A):c.6657+200G>T	noncoding	Benign
1	215998764	C	T	C215998764T	USH2A	NM_206933.4(USH2A):c.6657+123G>A	noncoding	Benign
1	215998858	G	T	G215998858T	USH2A	NM_206933.4(USH2A):c.6657+29C>A	noncoding	Benign
1	215998923	G	T	G215998923T	USH2A	NM_206933.4(USH2A):c.6621C>A:p.Tyr2207Ter	coding	Pathogenic
1	215998974	C	T	C215998974T	USH2A	NM_206933.4(USH2A):c.6570G>A:p.Trp2190Ter	coding	Pathogenic
1	215999076	C	T	C215999076T	USH2A	NM_206933.4(USH2A):c.6486-18G>A	noncoding	Benign
1	215999243	G	A	G215999243A	USH2A	NM_206933.4(USH2A):c.6486-185C>T	noncoding	Benign
1	216048379	C	T	C216048379T	USH2A	NM_206933.4(USH2A):c.6163+155G>A	noncoding	Benign
1	216048557	A	T	A216048557T	USH2A	NM_206933.4(USH2A):c.6140T>A:p.Leu2047Ter	coding	Pathogenic
1	216048566	G	T	G216048566T	USH2A	NM_206933.4(USH2A):c.6131C>A:p.Ser2044Ter	coding	Pathogenic
1	216048648	C	T	C216048648T	USH2A	NM_206933.4(USH2A):c.6050-1G>A	coding	Pathogenic/Likely_pathogenic
1	216070064	G	A	G216070064A	USH2A	NM_206933.4(USH2A):c.6049+37C>T	noncoding	Benign
1	216070189	G	T	G216070189T	USH2A	NM_206933.4(USH2A):c.5961C>A:p.Tyr1987Ter	coding	Pathogenic
1	216070218	G	A	G216070218A	USH2A	NM_206933.4(USH2A):c.5932C>T:p.Pro1978Ser	coding	Benign/Likely_benign
1	216072702	G	A	G216072702A	USH2A	NM_206933.4(USH2A):c.5857+187C>T	noncoding	Benign
1	216072888	C	G	C216072888G	USH2A	NM_206933.4(USH2A):c.5857+1G>C	noncoding	Pathogenic/Likely_pathogenic
1	216073121	C	A	C216073121A	USH2A	NM_206933.4(USH2A):c.5752G>T:p.Glu1918Ter	coding	Pathogenic
1	216073136	C	A	C216073136A	USH2A	NM_206933.4(USH2A):c.5737G>T:p.Glu1913Ter	coding	Pathogenic
1	216073145	G	A	G216073145A	USH2A	NM_206933.4(USH2A):c.5728C>T:p.Gln1910Ter	coding	Pathogenic
1	216073302	T	C	T216073302C	USH2A	NM_206933.4(USH2A):c.5573-2A>G	noncoding	Pathogenic
1	216073878	G	T	G216073878T	USH2A	NM_206933.4(USH2A):c.5573-578C>A	noncoding	Benign
1	216074134	T	C	T216074134C	USH2A	NM_206933.4(USH2A):c.5573-834A>G	noncoding	Pathogenic/Likely_pathogenic
1	216074143	T	C	T216074143C	USH2A	NM_206933.4(USH2A):c.5573-843A>G	noncoding	Pathogenic
1	216074352	G	A	G216074352A	USH2A	NM_206933.4(USH2A):c.5573-1052C>T	noncoding	Benign
1	216078131	G	A	G216078131A	USH2A	NM_206933.4(USH2A):c.5530C>T:p.Gln1844Ter	coding	Pathogenic/Likely_pathogenic
1	216078176	G	A	G216078176A	USH2A	NM_206933.4(USH2A):c.5485C>T:p.Gln1829Ter	coding	Pathogenic
1	216078305	G	A	G216078305A	USH2A	NM_206933.4(USH2A):c.5356C>T:p.Gln1786Ter	coding	Pathogenic
1	216083374	G	T	G216083374T	USH2A	NM_206933.4(USH2A):c.5298+82C>A	noncoding	Benign
1	216083508	A	C	A216083508C	USH2A	NM_206933.4(USH2A):c.5246T>G:p.Leu1749Ter	coding	Pathogenic
1	216084683	T	G	T216084683G	USH2A	NM_206933.4(USH2A):c.5167+15A>C	noncoding	Benign
1	216084712	T	G	T216084712G	USH2A	NM_206933.4(USH2A):c.5153A>C:p.Gln1718Pro	coding	Pathogenic
1	216084853	C	A	C216084853A	USH2A	NM_206933.4(USH2A):c.5012G>T:p.Gly1671Val	coding	Pathogenic
1	216085164	A	T	A216085164T	USH2A	NM_206933.4(USH2A):c.4988-287T>A	noncoding	Benign
1	216086519	G	A	G216086519A	USH2A	NM_206933.4(USH2A):c.4987+200C>T	noncoding	Benign
1	216087054	G	A	G216087054A	USH2A	NM_206933.4(USH2A):c.4886-234C>T	noncoding	Benign
1	216088746	C	T	C216088746T	USH2A	NM_206933.4(USH2A):c.4885+267G>A	noncoding	Benign
1	216089077	C	T	C216089077T	USH2A	NM_206933.4(USH2A):c.4821G>A:p.Trp1607Ter	coding	Pathogenic/Likely_pathogenic
1	216089078	C	T	C216089078T	USH2A	NM_206933.4(USH2A):c.4820G>A:p.Trp1607Ter	coding	Pathogenic
1	216089141	T	C	T216089141C	USH2A	NM_206933.4(USH2A):c.4759-2A>G	noncoding	Pathogenic
1	216097145	G	A	G216097145A	USH2A	NM_206933.4(USH2A):c.4696C>T:p.Gln1566Ter	coding	Pathogenic
1	216097349	T	C	T216097349C	USH2A	NM_206933.4(USH2A):c.4628-136A>G	noncoding	Benign
1	216097474	C	T	C216097474T	USH2A	NM_206933.4(USH2A):c.4628-261G>A	noncoding	Benign
1	216164317	A	G	A216164317G	USH2A	NM_206933.4(USH2A):c.4627+10935T>C	noncoding	Benign
1	216165336	A	G	A216165336G	USH2A	NM_206933.4(USH2A):c.4627+9916T>C	noncoding	Benign
1	216165653	T	C	T216165653C	USH2A	NM_206933.4(USH2A):c.4627+9599A>G	noncoding	Benign
1	216167933	T	C	T216167933C	USH2A	NM_206933.4(USH2A):c.4627+7319A>G	noncoding	Benign
1	216168375	T	C	T216168375C	USH2A	NM_206933.4(USH2A):c.4627+6877A>G	noncoding	Benign
1	216169647	T	G	T216169647G	USH2A	NM_206933.4(USH2A):c.4627+5605A>C	noncoding	Benign
1	216171223	C	T	C216171223T	USH2A	NM_206933.4(USH2A):c.4627+4029G>A	noncoding	Benign
1	216173166	A	C	A216173166C	USH2A	NM_206933.4(USH2A):c.4627+2086T>G	noncoding	Benign
1	216174885	G	A	G216174885A	USH2A	NM_206933.4(USH2A):c.4627+367C>T	coding	Benign
1	216175347	G	A	G216175347A	USH2A	NM_206933.4(USH2A):c.4532C>T:p.Ala1511Val	coding	Benign/Likely_benign
1	216175574	T	C	T216175574C	USH2A	NM_206933.4(USH2A):c.4397-92A>G	noncoding	Benign
1	216175809	C	T	C216175809T	USH2A	NM_206933.4(USH2A):c.4397-327G>A	noncoding	Benign
1	216190249	G	T	G216190249T	USH2A	NM_206933.4(USH2A):c.4370C>A:p.Ser1457Ter	coding	Pathogenic
1	216190294	A	G	A216190294G	USH2A	NM_206933.4(USH2A):c.4325T>C:p.Phe1442Ser	coding	Pathogenic
1	216190346	G	A	G216190346A	USH2A	NM_206933.4(USH2A):c.4273C>T:p.Gln1425Ter	coding	Pathogenic
1	216196552	C	A	C216196552A	USH2A	NM_206933.4(USH2A):c.4251+1G>T	noncoding	Pathogenic/Likely_pathogenic
1	216196587	G	T	G216196587T	USH2A	NM_206933.4(USH2A):c.4217C>A:p.Ser1406Ter	coding	Pathogenic
1	216196671	A	G	A216196671G	USH2A	NM_206933.4(USH2A):c.4133T>C:p.Leu1378Pro	coding	Pathogenic/Likely_pathogenic
1	216196723	C	T	C216196723T	USH2A	NM_206933.4(USH2A):c.4082-1G>A	coding	Pathogenic
1	216196766	C	T	C216196766T	USH2A	NM_206933.4(USH2A):c.4082-44G>A	noncoding	Benign
1	216196788	T	G	T216196788G	USH2A	NM_206933.4(USH2A):c.4082-66A>C	noncoding	Benign
1	216198340	C	T	C216198340T	USH2A	NM_206933.4(USH2A):c.4056G>A:p.Trp1352Ter	coding	Pathogenic
1	216198391	A	C	A216198391C	USH2A	NM_206933.4(USH2A):c.4005T>G:p.Tyr1335Ter	coding	Pathogenic
1	216198534	C	A	C216198534A	USH2A	NM_206933.4(USH2A):c.3862G>T:p.Glu1288Ter	coding	Pathogenic
1	216198568	A	C	A216198568C	USH2A	NM_206933.4(USH2A):c.3828T>G:p.Tyr1276Ter	coding	Pathogenic/Likely_pathogenic
1	216199708	G	A	G216199708A	USH2A	NM_206933.4(USH2A):c.3730C>T:p.Gln1244Ter	coding	Pathogenic
1	216199754	A	T	A216199754T	USH2A	NM_206933.4(USH2A):c.3684T>A:p.Cys1228Ter	coding	Pathogenic
1	216199892	A	T	A216199892T	USH2A	NM_206933.4(USH2A):c.3546T>A:p.Tyr1182Ter	coding	Pathogenic/Likely_pathogenic
1	216199983	A	T	A216199983T	USH2A	NM_206933.4(USH2A):c.3455T>A:p.Leu1152Ter	coding	Pathogenic
1	216200111	G	T	G216200111T	USH2A	NM_206933.4(USH2A):c.3327C>A:p.Tyr1109Ter	coding	Pathogenic
1	216217352	C	T	C216217352T	USH2A	NM_206933.4(USH2A):c.3157+35G>A	noncoding	Benign
1	216217448	A	T	A216217448T	USH2A	NM_206933.4(USH2A):c.3096T>A:p.Cys1032Ter	coding	Pathogenic
1	216246592	A	T	A216246592T	USH2A	NM_206933.4(USH2A):c.2802T>A:p.Cys934Ter	coding	Pathogenic
1	216246615	G	A	G216246615A	USH2A	NM_206933.4(USH2A):c.2779C>T:p.Gln927Ter	coding	Pathogenic
1	216246728	A	T	A216246728T	USH2A	NM_206933.4(USH2A):c.2666T>A:p.Leu889Ter	coding	Pathogenic
1	216246916	G	T	G216246916T	USH2A	NM_206933.4(USH2A):c.2478C>A:p.Cys826Ter	coding	Pathogenic
1	216247098	A	G	A216247098G	USH2A	NM_206933.4(USH2A):c.2296T>C:p.Cys766Arg	coding	Pathogenic/Likely_pathogenic
1	216247138	A	G	A216247138G	USH2A	NM_206933.4(USH2A):c.2256T>C:p.His752=	coding	Benign/Likely_benign
1	216247207	G	T	G216247207T	USH2A	NM_206933.4(USH2A):c.2187C>A:p.Cys729Ter	coding	Pathogenic/Likely_pathogenic
1	216251035	C	A	C216251035A	USH2A	NM_206933.4(USH2A):c.2035G>T:p.Gly679Ter	coding	Pathogenic
1	216251041	G	A	G216251041A	USH2A	NM_206933.4(USH2A):c.2029C>T:p.Gln677Ter	coding	Pathogenic
1	216251042	G	T	G216251042T	USH2A	NM_206933.4(USH2A):c.2028C>A:p.Cys676Ter	coding	Pathogenic
1	216289082	T	C	T216289082C	USH2A	NM_206933.4(USH2A):c.1971+198A>G	noncoding	Benign
1	216289195	C	T	C216289195T	USH2A	NM_206933.4(USH2A):c.1971+85G>A	noncoding	Benign
1	216289391	G	T	G216289391T	USH2A	NM_206933.4(USH2A):c.1860C>A:p.Cys620Ter	coding	Pathogenic
1	216289401	C	T	C216289401T	USH2A	NM_206933.4(USH2A):c.1850G>A:p.Cys617Tyr	coding	Pathogenic
1	216289411	C	T	C216289411T	USH2A	NM_206933.4(USH2A):c.1841-1G>A	coding	Pathogenic
1	216292372	T	C	T216292372C	USH2A	NM_206933.4(USH2A):c.1645-2A>G	noncoding	Pathogenic
1	216292540	C	T	C216292540T	USH2A	NM_206933.4(USH2A):c.1645-170G>A	noncoding	Benign
1	216321849	T	G	T216321849G	USH2A	NM_206933.4(USH2A):c.1644+34A>C	noncoding	Benign/Likely_benign
1	216322058	A	G	A216322058G	USH2A	NM_206933.4(USH2A):c.1551-82T>C	noncoding	Benign
1	216322209	T	G	T216322209G	USH2A	NM_206933.4(USH2A):c.1551-233A>C	noncoding	Benign
1	216323477	C	A	C216323477A	USH2A	NM_206933.4(USH2A):c.1547G>T:p.Gly516Val	coding	Pathogenic/Likely_pathogenic
1	216323592	C	A	C216323592A	USH2A	NM_206933.4(USH2A):c.1432G>T:p.Glu478Ter	coding	Pathogenic
1	216323623	G	T	G216323623T	USH2A	NM_206933.4(USH2A):c.1401C>A:p.Tyr467Ter	coding	Pathogenic
1	216324324	C	A	C216324324A	USH2A	NM_206933.4(USH2A):c.1172G>T:p.Ser391Ile	coding	Pathogenic
1	216324380	T	G	T216324380G	USH2A	NM_206933.4(USH2A):c.1144-28A>C	noncoding	Benign
1	216325132	G	C	G216325132C	USH2A	NM_206933.4(USH2A):c.1143+173C>G	noncoding	Benign
1	216325322	C	A	C216325322A	USH2A	NM_206933.4(USH2A):c.1126G>T:p.Glu376Ter	coding	Pathogenic
1	216325355	G	A	G216325355A	USH2A	NM_206933.4(USH2A):c.1093C>T:p.Leu365Phe	coding	Benign
1	216325541	G	T	G216325541T	USH2A	NM_206933.4(USH2A):c.907C>A:p.Arg303Ser	coding	Pathogenic
1	216325577	C	A	C216325577A	USH2A	NM_206933.4(USH2A):c.871G>T:p.Gly291Ter	coding	Pathogenic
1	216325846	A	G	A216325846G	USH2A	NM_206933.4(USH2A):c.849-247T>C	noncoding	Benign
1	216327488	G	C	G216327488C	USH2A	NM_206933.4(USH2A):c.848+103C>G	noncoding	Benign
1	216364987	T	G	T216364987G	USH2A	NM_206933.4(USH2A):c.750A>C:p.Ala250=	coding	Benign
1	216365109	T	A	T216365109A	USH2A	NM_206933.4(USH2A):c.652-24A>T	noncoding	Benign
1	216365165	A	G	A216365165G	USH2A	NM_206933.4(USH2A):c.652-80T>C	noncoding	Benign
1	216418826	T	C	T216418826C	USH2A	NM_206933.4(USH2A):c.486-147A>G	noncoding	Benign
1	216421862	G	A	G216421862A	USH2A	NM_206933.4(USH2A):c.475C>T:p.Gln159Ter	coding	Pathogenic
1	216421868	C	A	C216421868A	USH2A	NM_206933.4(USH2A):c.469G>T:p.Glu157Ter	coding	Pathogenic
1	216422174	G	A	G216422174A	USH2A	NM_206933.4(USH2A):c.163C>T:p.Gln55Ter	coding	Pathogenic
1	216422294	G	A	G216422294A	USH2A	NM_206933.4(USH2A):c.43C>T:p.Gln15Ter	coding	Pathogenic/Likely_pathogenic
1	216422988	A	G	A216422988G	USH2A	NM_206933.4(USH2A):c.-205+226T>C	noncoding	Benign
1	218345173	A	C	A218345173C	TGFB2	Single_allele	noncoding	Benign
1	218346846	A	T	A218346846T	TGFB2	NM_003238.6(TGFB2):c.145A>T:p.Lys49Ter	coding	Pathogenic
1	218346872	T	A	T218346872A	TGFB2	NM_003238.6(TGFB2):c.171T>A:p.Tyr57Ter	coding	Pathogenic
1	218346973	G	A	G218346973A	TGFB2	NM_003238.6(TGFB2):c.272G>A:p.Arg91His	coding	Benign/Likely_benign
1	218346975	G	T	G218346975T	TGFB2	NM_003238.6(TGFB2):c.274G>T:p.Glu92Ter	coding	Pathogenic/Likely_pathogenic
1	218405226	C	G	C218405226G	TGFB2	NM_003238.6(TGFB2):c.404C>G:p.Ser135Ter	coding	Pathogenic
1	218434519	T	C	T218434519C	TGFB2	NM_003238.6(TGFB2):c.754+71T>C	noncoding	Benign
1	218434781	G	T	G218434781T	TGFB2	NM_003238.6(TGFB2):c.754+333G>T	noncoding	Benign
1	218436120	G	A	G218436120A	TGFB2	NM_003238.6(TGFB2):c.905G>A:p.Arg302His	coding	Pathogenic/Likely_pathogenic
1	218436360	A	G	A218436360G	TGFB2	NM_003238.6(TGFB2):c.932+213A>G	noncoding	Benign
1	218436394	G	A	G218436394A	TGFB2	NM_003238.6(TGFB2):c.932+247G>A	noncoding	Benign
1	218437092	C	A	C218437092A	TGFB2	NM_003238.6(TGFB2):c.933-251C>A	noncoding	Benign
1	218437422	C	A	C218437422A	TGFB2	NM_003238.6(TGFB2):c.1012C>A:p.Pro338Thr	coding	Pathogenic
1	218440997	G	A	G218440997A	TGFB2	NM_003238.6(TGFB2):c.1087-207G>A	noncoding	Benign
1	219915635	G	A	G219915635A	SLC30A10	NM_018713.3(SLC30A10):c.1272C>T:p.His424=	coding	Benign/Likely_benign
1	219916010	A	C	A219916010C	SLC30A10	NM_018713.3(SLC30A10):c.959-62T>G	noncoding	Benign
1	219918599	T	G	T219918599G	SLC30A10	NM_018713.3(SLC30A10):c.719-105A>C	noncoding	Benign
1	219926824	T	C	T219926824C	SLC30A10	NM_018713.3(SLC30A10):c.718+204A>G	noncoding	Benign
1	219927269	A	G	A219927269G	SLC30A10	NM_018713.3(SLC30A10):c.641-164T>C	noncoding	Benign
1	219927660	A	C	A219927660C	SLC30A10	NM_018713.3(SLC30A10):c.640+141T>G	noncoding	Benign
1	219927663	A	C	A219927663C	SLC30A10	NM_018713.3(SLC30A10):c.640+138T>G	noncoding	Benign
1	219927666	A	C	A219927666C	SLC30A10	NM_018713.3(SLC30A10):c.640+135T>G	noncoding	Benign
1	219927681	A	C	A219927681C	SLC30A10	NM_018713.3(SLC30A10):c.640+120T>G	noncoding	Benign
1	219927683	A	C	A219927683C	SLC30A10	NM_018713.3(SLC30A10):c.640+118T>G	noncoding	Benign
1	219927785	T	C	T219927785C	SLC30A10	NM_018713.3(SLC30A10):c.640+16A>G	noncoding	Benign
1	219978552	C	T	C219978552T	EPRS1	NM_004446.3(EPRS1):c.4077G>A:p.Glu1359=	coding	Benign
1	219978621	A	G	A219978621G	EPRS1	NM_004446.3(EPRS1):c.4008T>C:p.Ser1336=	coding	Benign
1	219980163	C	T	C219980163T	EPRS1	NM_004446.3(EPRS1):c.3633G>A:p.Thr1211=	coding	Benign
1	219981426	C	T	C219981426T	EPRS1	NM_004446.3(EPRS1):c.3405G>A:p.Gln1135=	coding	Benign
1	219982748	T	C	T219982748C	EPRS1	NM_004446.3(EPRS1):c.3373+24A>G	noncoding	Benign
1	219982811	G	A	G219982811A	EPRS1	NM_004446.3(EPRS1):c.3334C>T:p.Leu1112=	coding	Benign
1	219983243	C	T	C219983243T	EPRS1	NM_004446.3(EPRS1):c.3246G>A:p.Val1082=	coding	Benign
1	219983362	T	C	T219983362C	EPRS1	NM_004446.3(EPRS1):c.3127A>G:p.Ile1043Val	coding	Benign
1	219983387	C	T	C219983387T	EPRS1	NM_004446.3(EPRS1):c.3102G>A:p.Lys1034=	coding	Benign
1	219987189	G	C	G219987189C	EPRS1	NM_004446.3(EPRS1):c.2991C>G:p.Leu997=	coding	Benign
1	219988592	T	G	T219988592G	EPRS1	NM_004446.3(EPRS1):c.2773A>C:p.Lys925Gln	coding	Benign
1	219988627	T	C	T219988627C	EPRS1	NM_004446.3(EPRS1):c.2738A>G:p.Glu913Gly	coding	Benign
1	219988662	C	T	C219988662T	EPRS1	NM_004446.3(EPRS1):c.2703G>A:p.Ala901=	coding	Benign
1	219988687	G	T	G219988687T	EPRS1	NM_004446.3(EPRS1):c.2678C>A:p.Pro893His	coding	Benign
1	220001124	G	A	G220001124A	EPRS1	NM_004446.3(EPRS1):c.2181+14C>T	noncoding	Benign
1	220001234	G	A	G220001234A	EPRS1	NM_004446.3(EPRS1):c.2085C>T:p.Ala695=	coding	Benign
1	220006307	T	C	T220006307C	EPRS1	NM_004446.3(EPRS1):c.1749A>G:p.Ala583=	coding	Benign
1	220007306	A	G	A220007306G	EPRS1	NM_004446.3(EPRS1):c.1638T>C:p.Tyr546=	coding	Benign/Likely_benign
1	220011066	A	G	A220011066G	EPRS1	NM_004446.3(EPRS1):c.1495-10T>C	noncoding	Benign
1	220018429	C	T	C220018429T	EPRS1	NM_004446.3(EPRS1):c.1494+20G>A	noncoding	Benign
1	220020081	T	C	T220020081C	EPRS1	NM_004446.3(EPRS1):c.1256A>G:p.Tyr419Cys	coding	Benign
1	220022340	T	C	T220022340C	EPRS1	NM_004446.3(EPRS1):c.1115+7A>G	noncoding	Benign
1	220024283	G	T	G220024283T	EPRS1	NM_004446.3(EPRS1):c.924C>A:p.Asp308Glu	coding	Benign
1	220033675	C	T	C220033675T	EPRS1	NM_004446.3(EPRS1):c.232-17G>A	noncoding	Benign
1	220034909	C	T	C220034909T	EPRS1	NM_004446.3(EPRS1):c.231+5G>A	noncoding	Benign
1	220035031	G	A	G220035031A	EPRS1	NM_004446.3(EPRS1):c.132-18C>T	noncoding	Benign
1	220093908	A	T	A220093908T	IARS2	Single_allele	noncoding	Benign
1	220094491	C	A	C220094491A	IARS2	NM_018060.4(IARS2):c.267+8C>A	noncoding	Benign/Likely_benign
1	220102352	G	C	G220102352C	IARS2	NM_018060.4(IARS2):c.700-11G>C	noncoding	Benign
1	220102355	T	C	T220102355C	IARS2	NM_018060.4(IARS2):c.700-8T>C	noncoding	Benign
1	220102962	C	T	C220102962T	IARS2	NM_018060.4(IARS2):c.950+185C>T	noncoding	Benign
1	220106039	G	A	G220106039A	IARS2	NM_018060.4(IARS2):c.1215G>A:p.Ala405=	coding	Benign/Likely_benign
1	220134334	A	G	A220134334G	IARS2	NM_018060.4(IARS2):c.1838-68A>G	noncoding	Benign
1	220139153	A	G	A220139153G	IARS2	NM_018060.4(IARS2):c.2307+14A>G	noncoding	Benign/Likely_benign
1	220140373	A	G	A220140373G	IARS2	NM_018060.4(IARS2):c.2414+84A>G	noncoding	Benign
1	220141634	C	T	C220141634T	IARS2	NM_018060.4(IARS2):c.2415-169C>T	noncoding	Benign
1	220145180	T	C	T220145180C	IARS2	NM_018060.4(IARS2):c.2752-329T>C	noncoding	Benign
1	220145493	A	T	A220145493T	IARS2	NM_018060.4(IARS2):c.2752-16A>T	noncoding	Benign
1	220145768	A	G	A220145768G	IARS2	NM_018060.4(IARS2):c.2896+115A>G	noncoding	Benign
1	220147478	T	C	T220147478C	IARS2	NM_018060.4(IARS2):c.2897-15T>C	noncoding	Benign/Likely_benign
1	220147681	A	G	A220147681G	IARS2	NM_018060.4(IARS2):c.*46A>G	noncoding	Benign
1	220151547	C	G	C220151547G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.4026+59G>C	noncoding	Benign
1	220151633	G	A	G220151633A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3999C>T:p.Pro1333=	coding	Benign/Likely_benign
1	220151795	G	C	G220151795C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3868-31C>G	noncoding	Benign
1	220153190	C	A	C220153190A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3862G>T:p.Glu1288Ter	coding	Pathogenic
1	220157956	C	G	C220157956G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3262-80G>C	noncoding	Benign
1	220157977	T	G	T220157977G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3262-101A>C	noncoding	Benign
1	220159210	C	T	C220159210T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3261+176G>A	noncoding	Benign
1	220159439	A	C	A220159439C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3226-18T>G	noncoding	Benign
1	220159534	G	A	G220159534A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3226-113C>T	noncoding	Benign
1	220162383	T	C	T220162383C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3155-115A>G	noncoding	Benign
1	220167690	C	T	C220167690T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2807-15G>A	noncoding	Benign/Likely_benign
1	220171290	G	A	G220171290A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2578-170C>T	noncoding	Benign
1	220171978	G	A	G220171978A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2488C>T:p.Gln830Ter	coding	Pathogenic
1	220172053	T	C	T220172053C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2417-4A>G	noncoding	Benign
1	220172230	A	C	A220172230C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2417-181T>G	noncoding	Benign
1	220172518	C	T	C220172518T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2416+119G>A	noncoding	Benign
1	220172536	A	G	A220172536G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2416+101T>C	noncoding	Benign
1	220183959	T	C	T220183959C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1998+77A>G	noncoding	Benign
1	220184035	C	T	C220184035T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1998+1G>A	noncoding	Pathogenic
1	220184079	A	T	A220184079T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1955T>A:p.Leu652Ter	coding	Pathogenic
1	220185895	G	T	G220185895T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1780-154C>A	noncoding	Benign
1	220186005	T	C	T220186005C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1780-264A>G	noncoding	Benign
1	220191508	C	T	C220191508T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1271-224G>A	noncoding	Benign
1	220193155	T	A	T220193155A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1270+85A>T	noncoding	Benign
1	220193604	C	T	C220193604T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1131-225G>A	noncoding	Benign
1	220195391	C	A	C220195391A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.961-14G>T	noncoding	Benign/Likely_benign
1	220202034	G	A	G220202034A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.811+242C>T	noncoding	Benign
1	220202611	A	T	A220202611T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.713-237T>A	noncoding	Benign
1	220205624	C	G	C220205624G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.712+283G>C	noncoding	Benign
1	220206161	G	C	G220206161C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.613-155C>G	noncoding	Benign
1	220206214	G	T	G220206214T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.613-208C>A	noncoding	Benign
1	220213735	G	A	G220213735A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.304+121C>T	noncoding	Benign
1	220213740	G	A	G220213740A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.304+116C>T	noncoding	Benign
1	220213741	G	A	G220213741A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.304+115C>T	noncoding	Benign
1	220232712	T	C	T220232712C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.180+87A>G	noncoding	Benign
1	220271976	C	T	C220271976T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.115+247G>A	noncoding	Benign
1	220272146	C	T	C220272146T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.115+77G>A	noncoding	Benign
1	222563156	C	T	C222563156T	TAF1A	NM_005681.4(TAF1A):c.1085+17G>A	noncoding	Benign
1	222648840	A	G	A222648840G	MIA3	NM_198551.4(MIA3):c.3621A>G:p.Arg1207=	coding	Pathogenic
1	222650187	A	G	A222650187G	MIA3	NM_198551.4(MIA3):c.3632-105A>G	noncoding	Benign
1	222942767	C	T	C222942767T	DISP1	NM_001377229.1(DISP1):c.-17-40C>T	noncoding	Benign
1	222943344	G	A	G222943344A	DISP1	NM_001377229.1(DISP1):c.509+12G>A	noncoding	Benign
1	222943545	C	T	C222943545T	DISP1	NM_001377229.1(DISP1):c.509+213C>T	noncoding	Benign
1	222943581	A	T	A222943581T	DISP1	NM_001377229.1(DISP1):c.509+249A>T	noncoding	Benign
1	222982872	C	T	C222982872T	DISP1	NM_001377229.1(DISP1):c.510-208C>T	noncoding	Benign
1	222983040	C	T	C222983040T	DISP1	NM_001377229.1(DISP1):c.510-40C>T	noncoding	Benign
1	222983311	C	T	C222983311T	DISP1	NM_001377229.1(DISP1):c.539+202C>T	noncoding	Benign
1	222991205	A	T	A222991205T	DISP1	NM_001377229.1(DISP1):c.664-315A>T	noncoding	Benign
1	222991732	T	G	T222991732G	DISP1	NM_001377229.1(DISP1):c.791+85T>G	noncoding	Benign
1	223002038	G	A	G223002038A	DISP1	NM_001377229.1(DISP1):c.988-347G>A	noncoding	Benign
1	223004632	G	A	G223004632A	DISP1	NM_001377229.1(DISP1):c.3235G>A:p.Val1079Met	coding	Benign
1	223005022	A	G	A223005022G	DISP1	NM_001377229.1(DISP1):c.3625A>G:p.Thr1209Ala	coding	Benign
1	223005135	C	T	C223005135T	DISP1	NM_001377229.1(DISP1):c.3738C>T:p.Asp1246=	coding	Benign
1	223005612	G	A	G223005612A	DISP1	NM_001377229.1(DISP1):c.4215G>A:p.Thr1405=	coding	Benign/Likely_benign
1	223006057	A	C	A223006057C	DISP1	Single_allele	noncoding	Benign
1	224114320	T	G	T224114320G	FBXO28	NM_015176.4(FBXO28):c.191T>G:p.Leu64Arg	coding	Pathogenic
1	224157681	C	G	C224157681G	FBXO28	NM_015176.4(FBXO28):c.1042C>G:p.Arg348Gly	coding	Pathogenic
1	224157717	A	T	A224157717T	FBXO28	NM_015176.4(FBXO28):c.1078A>T:p.Lys360Ter	coding	Pathogenic
1	224183111	C	T	C224183111T	DEGS1	Single_allele	noncoding	Benign
1	224183363	C	A	C224183363A	DEGS1	NM_003676.4(DEGS1):c.27C>A:p.Asp9Glu	coding	Benign
1	224190022	C	T	C224190022T	DEGS1	NM_003676.4(DEGS1):c.528C>T:p.Phe176=	coding	Benign
1	224190076	C	G	C224190076G	DEGS1	NM_003676.4(DEGS1):c.582C>G:p.Val194=	coding	Benign
1	224192532	A	G	A224192532G	DEGS1	NM_003676.4(DEGS1):c.*54A>G	noncoding	Benign
1	224192622	A	G	A224192622G	DEGS1	NM_003676.4(DEGS1):c.*144A>G	noncoding	Benign
1	224398256	A	C	A224398256C	WDR26	NM_001379403.1(WDR26):c.1945-30T>G	coding	Benign
1	224398932	G	A	G224398932A	WDR26	NM_001379403.1(WDR26):c.1822C>T:p.Arg608Ter	coding	Pathogenic
1	224418259	C	T	C224418259T	WDR26	NM_001379403.1(WDR26):c.1319+1G>A	noncoding	Pathogenic
1	224419567	C	T	C224419567T	WDR26	NM_001379403.1(WDR26):c.1113G>A:p.Trp371Ter	coding	Pathogenic
1	224433666	G	C	G224433666C	WDR26	NM_001379403.1(WDR26):c.722+18C>G	noncoding	Benign
1	224967412	A	T	A224967412T	DNAH14	NM_001367479.1(DNAH14):c.499-19A>T	noncoding	Benign
1	225080592	G	A	G225080592A	DNAH14	NM_001367479.1(DNAH14):c.2980G>A:p.Gly994Ser	coding	Benign
1	225206159	C	T	C225206159T	DNAH14	NM_001367479.1(DNAH14):c.6166C>T:p.Arg2056Ter	coding	Pathogenic
1	225333399	G	C	G225333399C	DNAH14	NM_001367479.1(DNAH14):c.9973G>C:p.Glu3325Gln	coding	Benign
1	225403733	T	C	T225403733C	LBR	NM_002296.4(LBR):c.1688-270A>G	noncoding	Benign
1	225404191	G	T	G225404191T	LBR	NM_002296.4(LBR):c.1687+213C>A	noncoding	Benign
1	225404293	C	T	C225404293T	LBR	NM_002296.4(LBR):c.1687+111G>A	noncoding	Benign
1	225406768	T	C	T225406768C	LBR	NM_002296.4(LBR):c.1379A>G:p.Asp460Gly	coding	Pathogenic
1	225410144	A	G	A225410144G	LBR	NM_002296.4(LBR):c.1314+147T>C	noncoding	Benign
1	225410607	A	C	A225410607C	LBR	NM_002296.4(LBR):c.1189-191T>G	noncoding	Benign
1	225411153	G	A	G225411153A	LBR	NM_002296.4(LBR):c.1188+184C>T	noncoding	Benign
1	225412221	T	C	T225412221C	LBR	NM_002296.4(LBR):c.1084+233A>G	noncoding	Benign
1	225412681	A	G	A225412681G	LBR	NM_002296.4(LBR):c.893-36T>C	noncoding	Benign
1	225415121	A	T	A225415121T	LBR	NM_002296.4(LBR):c.892+157T>A	noncoding	Benign
1	225415401	C	T	C225415401T	LBR	NM_002296.4(LBR):c.838-69G>A	noncoding	Benign
1	225415464	T	G	T225415464G	LBR	NM_002296.4(LBR):c.838-132A>C	noncoding	Benign
1	225417757	A	G	A225417757G	LBR	NM_002296.4(LBR):c.837+227T>C	noncoding	Benign
1	225417913	T	C	T225417913C	LBR	NM_002296.4(LBR):c.837+71A>G	noncoding	Benign
1	225417965	A	T	A225417965T	LBR	NM_002296.4(LBR):c.837+19T>A	noncoding	Benign/Likely_benign
1	225419876	T	C	T225419876C	LBR	NM_002296.4(LBR):c.367-78A>G	noncoding	Benign
1	225419877	T	C	T225419877C	LBR	NM_002296.4(LBR):c.367-79A>G	noncoding	Benign
1	225422076	C	A	C225422076A	LBR	NM_002296.4(LBR):c.366+1G>T	noncoding	Pathogenic
1	225422538	T	C	T225422538C	LBR	NM_002296.4(LBR):c.166-261A>G	noncoding	Benign
1	225423629	C	G	C225423629G	LBR	NM_002296.4(LBR):c.165+282G>C	noncoding	Benign
1	225427864	G	C	G225427864C	LBR	NM_002296.4(LBR):c.-15+90C>G	noncoding	Benign
1	225428125	C	T	C225428125T	LBR	NM_194442.3(LBR):c.-15+581G>A	noncoding	Benign
1	225828680	G	A	G225828680A	EPHX1	NM_001136018.4(EPHX1):c.-5-45G>A	noncoding	Benign
1	225828696	G	A	G225828696A	EPHX1	NM_001136018.4(EPHX1):c.-5-29G>A	noncoding	Benign
1	225828932	G	A	G225828932A	EPHX1	NM_001136018.4(EPHX1):c.183+20G>A	noncoding	Benign
1	225831670	G	T	G225831670T	EPHX1	NM_001136018.4(EPHX1):c.184-109G>T	noncoding	Benign
1	225831932	T	C	T225831932C	EPHX1	NM_001136018.4(EPHX1):c.337T>C:p.Tyr113His	coding	Benign
1	225831952	G	A	G225831952A	EPHX1	NM_001136018.4(EPHX1):c.357G>A:p.Lys119=	coding	Benign
1	225832073	G	C	G225832073C	EPHX1	NM_001136018.4(EPHX1):c.364+114G>C	noncoding	Benign
1	225838540	C	G	C225838540G	EPHX1	NM_001136018.4(EPHX1):c.365-114C>G	noncoding	Benign
1	225838705	A	G	A225838705G	EPHX1	NM_001136018.4(EPHX1):c.416A>G:p.His139Arg	coding	Benign
1	225838915	G	A	G225838915A	EPHX1	NM_001136018.4(EPHX1):c.592+34G>A	noncoding	Benign
1	225839495	C	T	C225839495T	EPHX1	NM_001136018.4(EPHX1):c.722+149C>T	noncoding	Benign
1	225839500	A	G	A225839500G	EPHX1	NM_001136018.4(EPHX1):c.722+154A>G	noncoding	Benign
1	225839622	T	C	T225839622C	EPHX1	NM_001136018.4(EPHX1):c.723-207T>C	noncoding	Benign
1	225839847	C	T	C225839847T	EPHX1	NM_001136018.4(EPHX1):c.741C>T:p.His247=	coding	Benign
1	225839958	C	T	C225839958T	EPHX1	NM_001136018.4(EPHX1):c.852C>T:p.Pro284=	coding	Benign
1	225840163	G	A	G225840163A	EPHX1	NM_001136018.4(EPHX1):c.931+126G>A	noncoding	Benign
1	225842438	C	T	C225842438T	EPHX1	NM_001136018.4(EPHX1):c.1004C>T:p.Thr335Met	coding	Benign
1	225844317	G	A	G225844317A	EPHX1	NM_001136018.4(EPHX1):c.1041-181G>A	noncoding	Benign
1	225844528	C	T	C225844528T	EPHX1	NM_001136018.4(EPHX1):c.1071C>T:p.Asn357=	coding	Benign
1	225844828	G	T	G225844828T	EPHX1	NM_001136018.4(EPHX1):c.1166+205G>T	noncoding	Benign
1	225844829	C	A	C225844829A	EPHX1	NM_001136018.4(EPHX1):c.1166+206C>A	noncoding	Benign
1	225844976	A	G	A225844976G	EPHX1	NM_001136018.4(EPHX1):c.1167-170A>G	noncoding	Benign
1	225845227	G	A	G225845227A	EPHX1	NM_001136018.4(EPHX1):c.1248G>A:p.Lys416=	coding	Benign
1	225845329	G	C	G225845329C	EPHX1	NM_001136018.4(EPHX1):c.1350G>C:p.Ser450=	coding	Benign
1	225845382	A	C	A225845382C	EPHX1	NM_001136018.4(EPHX1):c.*35A>C	noncoding	Benign
1	225853751	A	G	A225853751G	TMEM63A	NM_014698.3(TMEM63A):c.1675T>C:p.Tyr559His	coding	Pathogenic
1	225857066	G	A	G225857066A	TMEM63A	NM_014698.3(TMEM63A):c.1378-49C>T	noncoding	Benign
1	225859264	T	C	T225859264C	TMEM63A	NM_014698.3(TMEM63A):c.1309A>G:p.Thr437Ala	coding	Benign
1	225867895	G	A	G225867895A	TMEM63A	NM_014698.3(TMEM63A):c.507C>T:p.Asp169=	coding	Benign
1	225886863	T	G	T225886863G	LEFTY1	NM_020997.4(LEFTY1):c.965A>C:p.Asp322Ala	coding	Benign
1	225920500	C	T	C225920500T	PYCR2	NM_013328.4(PYCR2):c.918G>A:p.Gly306=	coding	Benign
1	225921194	C	T	C225921194T	PYCR2	NM_013328.4(PYCR2):c.797+14G>A	noncoding	Benign
1	225921199	T	G	T225921199G	PYCR2	NM_013328.4(PYCR2):c.797+9A>C	noncoding	Benign
1	225921584	G	A	G225921584A	PYCR2	NM_013328.4(PYCR2):c.601C>T:p.Leu201=	coding	Benign
1	225921839	G	A	G225921839A	PYCR2	NM_013328.4(PYCR2):c.540+19C>T	noncoding	Benign
1	225937917	A	G	A225937917G	LEFTY2	NM_003240.5(LEFTY2):c.738-113T>C	noncoding	Benign
1	225940046	C	G	C225940046G	LEFTY2	NM_003240.5(LEFTY2):c.251-44G>C	noncoding	Benign
1	225940864	G	A	G225940864A	LEFTY2	NM_003240.5(LEFTY2):c.250+27C>T	noncoding	Benign
1	225941081	C	T	C225941081T	LEFTY2	NM_003240.5(LEFTY2):c.60G>A:p.Ala20=	coding	Benign
1	226064403	A	G	A226064403G	H3-3A	NM_002107.7(H3-3A):c.52A>G:p.Arg18Gly	coding	Pathogenic
1	226064472	C	T	C226064472T	H3-3A	NM_002107.7(H3-3A):c.121C>T:p.Arg41Cys	coding	Pathogenic/Likely_pathogenic
1	226065798	G	C	G226065798C	H3-3A	NM_002107.7(H3-3A):c.271G>C:p.Gly91Arg	coding	Pathogenic/Likely_pathogenic
1	226071454	G	A	G226071454A	H3-3A	NM_002107.7(H3-3A):c.386G>A:p.Arg129His	coding	Pathogenic/Likely_pathogenic
1	226367601	A	G	A226367601G	PARP1	NM_001618.4(PARP1):c.2285T>C:p.Val762Ala	coding	Benign
1	226736495	C	T	C226736495T	ITPKB	NM_002221.4(ITPKB):c.964G>A:p.Ala322Thr	coding	Pathogenic
1	226882173	C	G	C226882173G	PSEN2	NM_000447.3(PSEN2):c.141+125C>G	noncoding	Benign
1	226883663	G	A	G226883663A	PSEN2	NM_000447.3(PSEN2):c.142-42G>A	noncoding	Benign
1	226883676	T	C	T226883676C	PSEN2	NM_000447.3(PSEN2):c.142-29T>C	noncoding	Benign
1	226883682	C	T	C226883682T	PSEN2	NM_000447.3(PSEN2):c.142-23C>T	noncoding	Benign
1	226883969	A	G	A226883969G	PSEN2	NM_000447.3(PSEN2):c.356+50A>G	noncoding	Benign
1	226884002	A	C	A226884002C	PSEN2	NM_000447.3(PSEN2):c.356+83A>C	noncoding	Benign
1	226884065	T	C	T226884065C	PSEN2	NM_000447.3(PSEN2):c.356+146T>C	noncoding	Benign
1	226885709	G	C	G226885709C	PSEN2	NM_000447.3(PSEN2):c.498+30G>C	noncoding	Benign
1	226888097	C	A	C226888097A	PSEN2	NM_000447.3(PSEN2):c.505C>A:p.His169Asn	coding	Benign/Likely_benign
1	226888112	A	G	A226888112G	PSEN2	NM_000447.3(PSEN2):c.520A>G:p.Met174Val	coding	Benign/Likely_benign
1	226888283	G	A	G226888283A	PSEN2	NM_000447.3(PSEN2):c.566+125G>A	noncoding	Benign
1	226888359	A	G	A226888359G	PSEN2	NM_000447.3(PSEN2):c.566+201A>G	noncoding	Benign
1	226888902	G	T	G226888902T	PSEN2	NM_000447.3(PSEN2):c.640G>T:p.Val214Leu	coding	Benign
1	226889115	C	A	C226889115A	PSEN2	NM_000447.3(PSEN2):c.787+66C>A	noncoding	Benign
1	226889254	C	T	C226889254T	PSEN2	NM_000447.3(PSEN2):c.787+205C>T	noncoding	Benign
1	226889945	G	C	G226889945C	PSEN2	NM_000447.3(PSEN2):c.788-90G>C	noncoding	Benign
1	226890149	G	A	G226890149A	PSEN2	NM_000447.3(PSEN2):c.886+16G>A	noncoding	Benign
1	226890366	C	T	C226890366T	PSEN2	NM_000447.3(PSEN2):c.886+233C>T	noncoding	Benign
1	226891020	T	A	T226891020A	PSEN2	NM_000447.3(PSEN2):c.887-258T>A	noncoding	Benign
1	226891254	T	C	T226891254C	PSEN2	NM_000447.3(PSEN2):c.887-24T>C	noncoding	Benign
1	226891521	C	G	C226891521G	PSEN2	NM_000447.3(PSEN2):c.970+160C>G	noncoding	Benign
1	226891600	G	C	G226891600C	PSEN2	NM_000447.3(PSEN2):c.971-143G>C	noncoding	Benign
1	226891999	C	T	C226891999T	PSEN2	NM_000447.3(PSEN2):c.1072+155C>T	noncoding	Benign
1	226892013	C	G	C226892013G	PSEN2	NM_000447.3(PSEN2):c.1072+169C>G	noncoding	Benign
1	226892120	G	A	G226892120A	PSEN2	NM_000447.3(PSEN2):c.1072+276G>A	noncoding	Benign
1	226893921	A	G	A226893921G	PSEN2	NM_000447.3(PSEN2):c.1073-86A>G	noncoding	Benign
1	226894149	G	A	G226894149A	PSEN2	NM_000447.3(PSEN2):c.1191+24G>A	noncoding	Benign
1	226894404	G	C	G226894404C	PSEN2	NM_000447.3(PSEN2):c.1191+279G>C	noncoding	Benign
1	226965300	C	T	C226965300T	COQ8A	NM_020247.5(COQ8A):c.478C>T:p.Arg160Ter	coding	Pathogenic
1	226965668	C	G	C226965668G	COQ8A	NM_020247.5(COQ8A):c.589-3C>G	noncoding	Pathogenic
1	226976411	G	A	G226976411A	COQ8A	NM_020247.5(COQ8A):c.656-1038G>A	noncoding	Benign
1	226977396	G	A	G226977396A	COQ8A	NM_020247.5(COQ8A):c.656-53G>A	noncoding	Benign
1	226977413	C	T	C226977413T	COQ8A	NM_020247.5(COQ8A):c.656-36C>T	noncoding	Benign
1	226982110	G	T	G226982110T	COQ8A	NM_020247.5(COQ8A):c.814G>T:p.Gly272Cys	coding	Pathogenic
1	226982719	C	T	C226982719T	COQ8A	NM_020247.5(COQ8A):c.895C>T:p.Arg299Trp	coding	Pathogenic/Likely_pathogenic
1	226982733	C	T	C226982733T	COQ8A	NM_020247.5(COQ8A):c.909C>T:p.Ser303=	coding	Benign/Likely_benign
1	226982926	G	A	G226982926A	COQ8A	NM_020247.5(COQ8A):c.972G>A:p.Trp324Ter	coding	Pathogenic
1	226982965	C	T	C226982965T	COQ8A	NM_020247.5(COQ8A):c.1011C>T:p.Ala337=	coding	Benign/Likely_benign
1	226984036	G	T	G226984036T	COQ8A	NM_020247.5(COQ8A):c.1257-58G>T	noncoding	Benign
1	226984037	G	T	G226984037T	COQ8A	NM_020247.5(COQ8A):c.1257-57G>T	noncoding	Benign
1	226984038	G	C	G226984038C	COQ8A	NM_020247.5(COQ8A):c.1257-56G>C	noncoding	Benign
1	226984038	G	T	G226984038T	COQ8A	NM_020247.5(COQ8A):c.1257-56G>T	noncoding	Benign
1	226984257	G	C	G226984257C	COQ8A	NM_020247.5(COQ8A):c.1398+22G>C	noncoding	Benign
1	226985234	C	G	C226985234G	COQ8A	NM_020247.5(COQ8A):c.1573-20C>G	noncoding	Benign/Likely_benign
1	226986452	G	A	G226986452A	COQ8A	NM_020247.5(COQ8A):c.1660-1G>A	noncoding	Pathogenic
1	226986464	C	T	C226986464T	COQ8A	NM_020247.5(COQ8A):c.1671C>T:p.Asp557=	coding	Benign/Likely_benign
1	226986593	C	G	C226986593G	COQ8A	NM_020247.5(COQ8A):c.1800C>G:p.Val600=	coding	Benign/Likely_benign
1	226987594	T	A	T226987594A	COQ8A	Single_allele	noncoding	Benign
1	226987666	G	T	G226987666T	COQ8A	Single_allele	noncoding	Benign
1	228050714	G	A	G228050714A	WNT3A	NM_033131.4(WNT3A):c.372G>A:p.Val124=	coding	Benign
1	228097344	T	C	T228097344C	ARF1	NM_001658.4(ARF1):c.151T>C:p.Phe51Leu	coding	Pathogenic
1	228097346	C	A	C228097346A	ARF1	NM_001658.4(ARF1):c.153C>A:p.Phe51Leu	coding	Pathogenic
1	228097859	C	G	C228097859G	ARF1	NM_001658.4(ARF1):c.392C>G:p.Pro131Arg	coding	Pathogenic
1	228097859	C	T	C228097859T	ARF1	NM_001658.4(ARF1):c.392C>T:p.Pro131Leu	coding	Pathogenic
1	228157749	G	C	G228157749C	GJC2	NM_020435.4(GJC2):c.-10G>C	noncoding	Benign
1	228158301	G	T	G228158301T	GJC2	NM_020435.4(GJC2):c.543G>T:p.Ala181=	coding	Benign
1	228159083	G	T	G228159083T	GJC2	NM_020435.4(GJC2):c.*5G>T	noncoding	Benign/Likely_benign
1	228159171	C	T	C228159171T	GJC2	NM_020435.4(GJC2):c.*93C>T	noncoding	Benign
1	228166123	C	T	C228166123T	IBA57	NM_001010867.4(IBA57):c.307C>T:p.Gln103Ter	coding	Pathogenic
1	228166151	T	A	T228166151A	IBA57	NM_001010867.4(IBA57):c.335T>A:p.Leu112Ter	coding	Pathogenic
1	228174605	G	A	G228174605A	IBA57	NM_001010867.4(IBA57):c.342-87G>A	coding	Benign
1	228174696	C	T	C228174696T	IBA57	NM_001010867.4(IBA57):c.346C>T:p.Gln116Ter	coding	Pathogenic
1	228211781	C	G	C228211781G	OBSCN	NM_001386125.1(OBSCN):c.-3C>G	noncoding	Benign
1	228212065	T	C	T228212065C	OBSCN	NM_001386125.1(OBSCN):c.282T>C:p.Ala94=	coding	Benign
1	228214346	A	G	A228214346G	OBSCN	NM_001386125.1(OBSCN):c.1431A>G:p.Leu477=	coding	Benign
1	228214420	A	G	A228214420G	OBSCN	NM_001386125.1(OBSCN):c.1505A>G:p.Gln502Arg	coding	Benign
1	228219564	G	A	G228219564A	OBSCN	NM_001386125.1(OBSCN):c.2894G>A:p.Arg965Lys	coding	Benign/Likely_benign
1	228245516	A	G	A228245516G	OBSCN	NM_001386125.1(OBSCN):c.3861A>G:p.Thr1287=	coding	Benign
1	228245645	C	T	C228245645T	OBSCN	NM_001386125.1(OBSCN):c.3990C>T:p.Cys1330=	coding	Benign
1	228246694	T	C	T228246694C	OBSCN	NM_001386125.1(OBSCN):c.4200T>C:p.Ala1400=	coding	Benign
1	228246766	T	C	T228246766C	OBSCN	NM_001386125.1(OBSCN):c.4272T>C:p.Ala1424=	coding	Benign
1	228276547	T	G	T228276547G	OBSCN	NM_001386125.1(OBSCN):c.7443T>G:p.Asp2481Glu	coding	Benign
1	228276575	T	C	T228276575C	OBSCN	NM_001386125.1(OBSCN):c.7471T>C:p.Phe2491Leu	coding	Benign
1	228306656	C	T	C228306656T	OBSCN	NM_001386125.1(OBSCN):c.14797+18C>T	noncoding	Benign
1	228317967	C	G	C228317967G	OBSCN	NM_001386125.1(OBSCN):c.16796C>G:p.Ser5599Cys	coding	Benign
1	228340711	G	A	G228340711A	OBSCN	NM_001386125.1(OBSCN):c.20404-13G>A	noncoding	Benign
1	228340862	C	G	C228340862G	OBSCN	NM_001386125.1(OBSCN):c.20542C>G:p.Gln6848Glu	coding	Benign
1	228362256	G	T	G228362256T	OBSCN	NM_001386125.1(OBSCN):c.21533-320G>T	noncoding	Benign
1	228362728	C	T	C228362728T	OBSCN	NM_001386125.1(OBSCN):c.21685C>T:p.Pro7229Ser	coding	Benign
1	228371356	G	A	G228371356A	OBSCN	NM_001386125.1(OBSCN):c.23449G>A:p.Ala7817Thr	coding	Benign
1	228372324	C	T	C228372324T	OBSCN	NM_001386125.1(OBSCN):c.24417C>T:p.Arg8139=	coding	Benign
1	228378679	T	C	T228378679C	OBSCN	NM_001386125.1(OBSCN):c.26662T>C:p.Cys8888Arg	coding	Benign
1	229431506	C	A	C229431506A	ACTA1	NM_001100.4(ACTA1):c.1127G>T:p.Cys376Phe	coding	Pathogenic/Likely_pathogenic
1	229431584	G	A	G229431584A	ACTA1	NM_001100.4(ACTA1):c.1049C>T:p.Ser350Leu	coding	Pathogenic
1	229431720	C	A	C229431720A	ACTA1	NM_001100.4(ACTA1):c.990+1G>T	noncoding	Pathogenic/Likely_pathogenic
1	229431865	G	C	G229431865C	ACTA1	NM_001100.4(ACTA1):c.846C>G:p.Asn282Lys	coding	Pathogenic
1	229431869	T	C	T229431869C	ACTA1	NM_001100.4(ACTA1):c.842A>G:p.Tyr281Cys	coding	Pathogenic
1	229431870	A	G	A229431870G	ACTA1	NM_001100.4(ACTA1):c.841T>C:p.Tyr281His	coding	Pathogenic
1	229432098	G	T	G229432098T	ACTA1	NM_001100.4(ACTA1):c.704C>A:p.Ser235Tyr	coding	Pathogenic
1	229432287	T	C	T229432287C	ACTA1	NM_001100.4(ACTA1):c.599A>G:p.Tyr200Cys	coding	Pathogenic
1	229432288	A	T	A229432288T	ACTA1	NM_001100.4(ACTA1):c.598T>A:p.Tyr200Asn	coding	Pathogenic
1	229432335	C	T	C229432335T	ACTA1	NM_001100.4(ACTA1):c.551G>A:p.Gly184Asp	coding	Pathogenic
1	229432377	C	T	C229432377T	ACTA1	NM_001100.4(ACTA1):c.509G>A:p.Gly170Asp	coding	Pathogenic
1	229432425	A	G	A229432425G	ACTA1	NM_001100.4(ACTA1):c.461T>C:p.Val154Ala	coding	Pathogenic
1	229432541	G	A	G229432541A	ACTA1	NM_001100.4(ACTA1):c.454+15C>T	noncoding	Benign/Likely_benign
1	229432583	A	G	A229432583G	ACTA1	NM_001100.4(ACTA1):c.427T>C:p.Ser143Pro	coding	Pathogenic
1	229432610	T	C	T229432610C	ACTA1	NM_001100.4(ACTA1):c.400A>G:p.Met134Val	coding	Pathogenic
1	229432651	T	A	T229432651A	ACTA1	NM_001100.4(ACTA1):c.359A>T:p.Lys120Met	coding	Pathogenic
1	229432784	C	G	C229432784G	ACTA1	NM_001100.4(ACTA1):c.226G>C:p.Gly76Arg	coding	Pathogenic
1	229432829	G	A	G229432829A	ACTA1	NM_001100.4(ACTA1):c.181C>T:p.Gln61Ter	coding	Pathogenic
1	229432841	C	G	C229432841G	ACTA1	NM_001100.4(ACTA1):c.169G>C:p.Gly57Arg	coding	Pathogenic
1	229432900	C	A	C229432900A	ACTA1	NM_001100.4(ACTA1):c.130-20G>T	noncoding	Benign
1	229432992	G	A	G229432992A	ACTA1	NM_001100.4(ACTA1):c.124C>T:p.His42Tyr	coding	Pathogenic
1	229433845	C	T	C229433845T	ACTA1	NM_001100.4(ACTA1):c.-13+159G>A	noncoding	Benign
1	229434248	G	T	G229434248T	ACTA1	Single_allele	noncoding	Benign
1	229449164	T	C	T229449164C	NUP133	NM_018230.3(NUP133):c.3207A>G:p.Leu1069=	coding	Benign
1	229458256	C	T	C229458256T	NUP133	NM_018230.3(NUP133):c.2885G>A:p.Arg962His	coding	Benign
1	229463692	A	C	A229463692C	NUP133	NM_018230.3(NUP133):c.2552-16T>G	noncoding	Benign
1	229466709	C	T	C229466709T	NUP133	NM_018230.3(NUP133):c.2124G>A:p.Glu708=	coding	Benign
1	229477583	T	C	T229477583C	NUP133	NM_018230.3(NUP133):c.1756+14A>G	noncoding	Benign
1	229486377	G	A	G229486377A	NUP133	NM_018230.3(NUP133):c.1494C>T:p.Asn498=	coding	Benign
1	229486415	A	G	A229486415G	NUP133	NM_018230.3(NUP133):c.1456T>C:p.Leu486=	coding	Benign
1	229487545	G	A	G229487545A	NUP133	NM_018230.3(NUP133):c.1263C>T:p.Asn421=	coding	Benign
1	229487591	T	C	T229487591C	NUP133	NM_018230.3(NUP133):c.1217A>G:p.Gln406Arg	coding	Benign
1	229495577	T	C	T229495577C	NUP133	NM_018230.3(NUP133):c.976-12A>G	noncoding	Benign
1	229495904	G	A	G229495904A	NUP133	NM_018230.3(NUP133):c.963C>T:p.Thr321=	coding	Benign
1	229495987	T	C	T229495987C	NUP133	NM_018230.3(NUP133):c.880A>G:p.Ile294Val	coding	Benign
1	229496051	T	C	T229496051C	NUP133	NM_018230.3(NUP133):c.820-4A>G	noncoding	Benign
1	229498313	A	G	A229498313G	NUP133	NM_018230.3(NUP133):c.649-7T>C	noncoding	Benign
1	229499733	A	G	A229499733G	NUP133	NM_018230.3(NUP133):c.599T>C:p.Phe200Ser	coding	Benign
1	229499737	C	T	C229499737T	NUP133	NM_018230.3(NUP133):c.595G>A:p.Ala199Thr	coding	Benign
1	229499774	A	G	A229499774G	NUP133	NM_018230.3(NUP133):c.558T>C:p.Tyr186=	coding	Benign
1	229500814	C	T	C229500814T	NUP133	NM_018230.3(NUP133):c.455G>A:p.Ser152Asn	coding	Benign
1	230203300	C	G	C230203300G	GALNT2	NM_004481.5(GALNT2):c.374+10C>G	noncoding	Benign
1	230203301	C	A	C230203301A	GALNT2	NM_004481.5(GALNT2):c.374+11C>A	noncoding	Benign
1	230236365	A	G	A230236365G	GALNT2	NM_004481.5(GALNT2):c.486A>G:p.Lys162=	coding	Benign
1	230243424	G	A	G230243424A	GALNT2	NM_004481.5(GALNT2):c.726G>A:p.Ala242=	coding	Benign
1	230249191	T	C	T230249191C	GALNT2	NM_004481.5(GALNT2):c.825T>C:p.Asp275=	coding	Benign
1	230249224	G	A	G230249224A	GALNT2	NM_004481.5(GALNT2):c.858G>A:p.Thr286=	coding	Benign
1	230250492	A	C	A230250492C	GALNT2	NM_004481.5(GALNT2):c.941A>C:p.Asp314Ala	coding	Benign
1	230274471	G	A	G230274471A	GALNT2	NM_004481.5(GALNT2):c.1467G>A:p.Ser489=	coding	Benign
1	230279402	G	A	G230279402A	GALNT2	NM_004481.5(GALNT2):c.1660G>A:p.Val554Met	coding	Benign
1	230642745	G	C	G230642745C	COG2	NM_007357.3(COG2):c.72+67G>C	noncoding	Benign
1	230659431	T	C	T230659431C	COG2	NM_007357.3(COG2):c.73-33T>C	noncoding	Benign
1	230659895	A	G	A230659895G	COG2	NM_007357.3(COG2):c.234+270A>G	noncoding	Benign
1	230660494	C	T	C230660494T	COG2	NM_007357.3(COG2):c.235-264C>T	noncoding	Benign
1	230660580	A	G	A230660580G	COG2	NM_007357.3(COG2):c.235-178A>G	noncoding	Benign
1	230660629	A	C	A230660629C	COG2	NM_007357.3(COG2):c.235-129A>C	noncoding	Benign
1	230669027	C	T	C230669027T	COG2	NM_007357.3(COG2):c.594+243C>T	noncoding	Benign
1	230669076	A	C	A230669076C	COG2	NM_007357.3(COG2):c.595-280A>C	noncoding	Benign
1	230674799	C	A	C230674799A	COG2	NM_007357.3(COG2):c.900-199C>A	noncoding	Benign
1	230678685	A	G	A230678685G	COG2	NM_007357.3(COG2):c.1027-228A>G	noncoding	Benign
1	230678922	A	G	A230678922G	COG2	NM_007357.3(COG2):c.1036A>G:p.Ile346Val	coding	Benign
1	230684832	G	A	G230684832A	COG2	NM_007357.3(COG2):c.1229-253G>A	noncoding	Benign
1	230684859	G	T	G230684859T	COG2	NM_007357.3(COG2):c.1229-226G>T	noncoding	Benign
1	230684884	G	A	G230684884A	COG2	NM_007357.3(COG2):c.1229-201G>A	noncoding	Benign
1	230685316	T	C	T230685316C	COG2	NM_007357.3(COG2):c.1380+80T>C	noncoding	Benign
1	230686725	C	A	C230686725A	COG2	NM_007357.3(COG2):c.1381-210C>A	noncoding	Benign
1	230686861	G	A	G230686861A	COG2	NM_007357.3(COG2):c.1381-74G>A	noncoding	Benign
1	230687157	C	T	C230687157T	COG2	NM_007357.3(COG2):c.1578+25C>T	noncoding	Benign
1	230687294	C	T	C230687294T	COG2	NM_007357.3(COG2):c.1578+162C>T	noncoding	Benign
1	230688047	A	G	A230688047G	COG2	NM_007357.3(COG2):c.1579-24A>G	noncoding	Benign
1	230688201	C	A	C230688201A	COG2	NM_007357.3(COG2):c.1651+58C>A	noncoding	Benign
1	230688835	G	C	G230688835C	COG2	NM_007357.3(COG2):c.1794+273G>C	noncoding	Benign
1	230688881	G	A	G230688881A	COG2	NM_007357.3(COG2):c.1794+319G>A	noncoding	Benign
1	230689681	T	G	T230689681G	COG2	NM_007357.3(COG2):c.1795-333T>G	noncoding	Benign
1	230689701	T	C	T230689701C	COG2	NM_007357.3(COG2):c.1795-313T>C	noncoding	Benign
1	230689754	C	T	C230689754T	COG2	NM_007357.3(COG2):c.1795-260C>T	noncoding	Benign
1	230689899	G	A	G230689899A	COG2	NM_007357.3(COG2):c.1795-115G>A	noncoding	Benign
1	230690196	A	G	A230690196G	COG2	NM_007357.3(COG2):c.1934+43A>G	noncoding	Benign
1	230693014	A	G	A230693014G	COG2	NM_007357.3(COG2):c.2116-278A>G	noncoding	Benign
1	230693019	G	T	G230693019T	COG2	NM_007357.3(COG2):c.2116-273G>T	noncoding	Benign
1	230693127	A	G	A230693127G	COG2	NM_007357.3(COG2):c.2116-165A>G	noncoding	Benign
1	230693241	C	A	C230693241A	COG2	NM_007357.3(COG2):c.2116-51C>A	noncoding	Benign
1	230693393	A	G	A230693393G	COG2	NM_007357.3(COG2):c.2217A>G:p.Ter739=	coding	Benign
1	230704451	C	A	C230704451A	AGT	NM_001384479.1(AGT):c.1098-114G>T	noncoding	Benign
1	230704523	A	G	A230704523G	AGT	NM_001384479.1(AGT):c.1098-186T>C	noncoding	Benign
1	230705763	A	G	A230705763G	AGT	NM_001384479.1(AGT):c.1097+170T>C	noncoding	Benign
1	230705813	G	A	G230705813A	AGT	NM_001384479.1(AGT):c.1097+120C>T	noncoding	Benign
1	230705815	G	A	G230705815A	AGT	NM_001384479.1(AGT):c.1097+118C>T	noncoding	Benign
1	230709809	G	A	G230709809A	AGT	NM_001384479.1(AGT):c.829+186C>T	noncoding	Benign
1	230710933	T	C	T230710933C	AGT	NM_001384479.1(AGT):c.-30-80A>G	noncoding	Benign
1	230711097	C	T	C230711097T	AGT	NM_001384479.1(AGT):c.-30-244G>A	noncoding	Benign
1	230712956	C	T	C230712956T	AGT	NM_001384479.1(AGT):c.-31+1130G>A	noncoding	Benign
1	230714140	T	G	T230714140G	AGT	NM_001382817.3(AGT):c.-30-3287A>C	noncoding	Benign/Likely_benign
1	230979169	A	T	A230979169T	ARV1	NM_022786.3(ARV1):c.64A>T:p.Thr22Ser	coding	Benign/Likely_benign
1	230988309	T	C	T230988309C	ARV1	NM_022786.3(ARV1):c.175-11T>C	noncoding	Benign
1	231241060	G	C	G231241060C	GNPAT	NM_152379.4(C1orf131):c.82C>G:p.Leu28Val	coding	Benign
1	231250866	T	A	T231250866A	GNPAT	NM_014236.4(GNPAT):c.79-95T>A	noncoding	Benign
1	231251227	T	C	T231251227C	GNPAT	NM_014236.4(GNPAT):c.261+84T>C	noncoding	Benign
1	231265290	T	G	T231265290G	GNPAT	NM_014236.4(GNPAT):c.569-3T>G	noncoding	Pathogenic
1	231265458	T	C	T231265458C	GNPAT	NM_014236.4(GNPAT):c.696+38T>C	noncoding	Benign
1	231265850	T	C	T231265850C	GNPAT	NM_014236.4(GNPAT):c.772+63T>C	noncoding	Benign
1	231266261	G	A	G231266261A	GNPAT	NM_014236.4(GNPAT):c.925-16G>A	noncoding	Benign/Likely_benign
1	231267660	C	A	C231267660A	GNPAT	NM_014236.4(GNPAT):c.1056-20C>A	noncoding	Benign/Likely_benign
1	231336647	G	A	G231336647A	EXOC8	NM_175876.5(EXOC8):c.1099C>T:p.Leu367=	coding	Benign
1	231351271	T	C	T231351271C	SPRTN	NM_032018.7(SPRTN):c.451-33T>C	noncoding	Benign
1	231352778	C	T	C231352778T	SPRTN	NM_032018.7(SPRTN):c.887C>T:p.Pro296Leu	coding	Benign
1	231366498	A	T	A231366498T	EGLN1	NM_022051.3(EGLN1):c.1217-23T>A	noncoding	Benign
1	231366499	T	A	T231366499A	EGLN1	NM_022051.3(EGLN1):c.1217-24A>T	noncoding	Benign
1	231366564	T	C	T231366564C	EGLN1	NM_022051.3(EGLN1):c.1217-89A>G	noncoding	Benign
1	231370811	G	A	G231370811A	EGLN1	NM_022051.3(EGLN1):c.1012-113C>T	noncoding	Benign
1	231370854	T	C	T231370854C	EGLN1	NM_022051.3(EGLN1):c.1012-156A>G	noncoding	Benign
1	231373662	C	T	C231373662T	EGLN1	NM_022051.3(EGLN1):c.1011+318G>A	noncoding	Benign
1	231373683	T	C	T231373683C	EGLN1	NM_022051.3(EGLN1):c.1011+297A>G	noncoding	Benign
1	231420981	C	G	C231420981G	EGLN1	NM_022051.3(EGLN1):c.891+17G>C	noncoding	Benign
1	231425284	C	G	C231425284G	EGLN1	Single_allele	noncoding	Benign
1	234231518	C	G	C234231518G	SLC35F3	NM_173508.4(SLC35F3):c.385C>G:p.Arg129Gly	coding	Benign
1	234374119	T	G	T234374119G	COA6	NM_001206641.3(COA6):c.213-111T>G	coding	Benign
1	234374516	A	G	A234374516G	COA6	NM_001206641.3(COA6):c.372+127A>G	noncoding	Benign
1	234383639	T	C	T234383639C	COA6	NM_001206641.3(COA6):c.373-84T>C	noncoding	Benign
1	234607746	C	T	C234607746T	IRF2BP2	NM_182972.3(IRF2BP2):c.1155G>A:p.Glu385=	coding	Benign
1	234607782	G	A	G234607782A	IRF2BP2	NM_182972.3(IRF2BP2):c.1119C>T:p.Asn373=	coding	Benign
1	234607818	T	C	T234607818C	IRF2BP2	NM_182972.3(IRF2BP2):c.1083A>G:p.Pro361=	coding	Benign
1	234607870	T	C	T234607870C	IRF2BP2	NM_182972.3(IRF2BP2):c.1049-18A>G	noncoding	Benign
1	234608583	G	T	G234608583T	IRF2BP2	NM_182972.3(IRF2BP2):c.912C>A:p.Thr304=	coding	Benign
1	234608709	C	A	C234608709A	IRF2BP2	NM_182972.3(IRF2BP2):c.786G>T:p.Pro262=	coding	Benign
1	234608724	C	T	C234608724T	IRF2BP2	NM_182972.3(IRF2BP2):c.771G>A:p.Lys257=	coding	Benign
1	234608734	G	A	G234608734A	IRF2BP2	NM_182972.3(IRF2BP2):c.761C>T:p.Ala254Val	coding	Benign
1	234608783	G	T	G234608783T	IRF2BP2	NM_182972.3(IRF2BP2):c.712C>A:p.Pro238Thr	coding	Benign
1	234608898	C	T	C234608898T	IRF2BP2	NM_182972.3(IRF2BP2):c.597G>A:p.Leu199=	coding	Benign
1	234609012	G	A	G234609012A	IRF2BP2	NM_182972.3(IRF2BP2):c.483C>T:p.Gly161=	coding	Benign
1	234609132	G	A	G234609132A	IRF2BP2	NM_182972.3(IRF2BP2):c.363C>T:p.Ala121=	coding	Benign
1	234609171	C	G	C234609171G	IRF2BP2	NM_182972.3(IRF2BP2):c.324G>C:p.Pro108=	coding	Benign
1	234609402	G	A	G234609402A	IRF2BP2	NM_182972.3(IRF2BP2):c.93C>T:p.Asp31=	coding	Benign
1	234609465	C	T	C234609465T	IRF2BP2	NM_182972.3(IRF2BP2):c.30G>A:p.Ala10=	coding	Benign
1	235109879	T	C	T235109879C	TOMM20	NM_014765.3(TOMM20):c.*2185A>G	noncoding	Benign
1	235335307	C	T	C235335307T	GGPS1	NM_004837.4(GGPS1):c.43C>T:p.Pro15Ser	coding	Pathogenic
1	235342645	A	G	A235342645G	GGPS1	NM_004837.4(GGPS1):c.776A>G:p.Tyr259Cys	coding	Pathogenic
1	235342650	C	G	C235342650G	GGPS1	NM_004837.4(GGPS1):c.781C>G:p.Arg261Gly	coding	Pathogenic
1	235342723	T	G	T235342723G	GGPS1	NM_004837.4(GGPS1):c.854T>G:p.Val285Gly	coding	Pathogenic
1	235401502	G	C	G235401502C	TBCE	NM_003193.5(TBCE):c.101-1G>C	noncoding	Pathogenic
1	235401609	G	T	G235401609T	TBCE	NM_003193.5(TBCE):c.185+22G>T	noncoding	Benign
1	235419228	C	T	C235419228T	TBCE	NM_003193.5(TBCE):c.372-245C>T	noncoding	Benign
1	235419609	T	G	T235419609G	TBCE	NM_003193.5(TBCE):c.460+48T>G	noncoding	Benign
1	235430443	A	G	A235430443G	TBCE	NM_003193.5(TBCE):c.561-262A>G	noncoding	Benign
1	235430457	G	C	G235430457C	TBCE	NM_003193.5(TBCE):c.561-248G>C	noncoding	Benign
1	235430867	A	G	A235430867G	TBCE	NM_003193.5(TBCE):c.660+63A>G	noncoding	Benign
1	235430935	A	G	A235430935G	TBCE	NM_003193.5(TBCE):c.660+131A>G	noncoding	Benign
1	235433008	C	T	C235433008T	TBCE	NM_003193.5(TBCE):c.661-1196C>T	coding	Benign
1	235433937	T	G	T235433937G	TBCE	NM_003193.5(TBCE):c.661-267T>G	noncoding	Benign
1	235434085	G	A	G235434085A	TBCE	NM_003193.5(TBCE):c.661-119G>A	noncoding	Benign
1	235434520	T	C	T235434520C	TBCE	NM_003193.5(TBCE):c.737+240T>C	noncoding	Benign
1	235435571	C	T	C235435571T	TBCE	NM_003193.5(TBCE):c.738-174C>T	noncoding	Benign
1	235435572	G	A	G235435572A	TBCE	NM_003193.5(TBCE):c.738-173G>A	noncoding	Benign
1	235435658	C	T	C235435658T	TBCE	NM_003193.5(TBCE):c.738-87C>T	noncoding	Benign
1	235436309	T	G	T235436309G	TBCE	NM_003193.5(TBCE):c.834-77T>G	noncoding	Benign
1	235436734	A	C	A235436734C	TBCE	NM_003193.5(TBCE):c.963+126A>C	noncoding	Benign
1	235436814	T	C	T235436814C	TBCE	NM_003193.5(TBCE):c.963+206T>C	noncoding	Benign
1	235437275	G	A	G235437275A	TBCE	NM_003193.5(TBCE):c.964-47G>A	noncoding	Benign
1	235437498	A	C	A235437498C	TBCE	NM_003193.5(TBCE):c.1116+24A>C	noncoding	Benign
1	235437596	C	G	C235437596G	TBCE	NM_003193.5(TBCE):c.1116+122C>G	noncoding	Benign
1	235438643	G	T	G235438643T	TBCE	NM_003193.5(TBCE):c.1117-126G>T	noncoding	Benign
1	235438989	G	A	G235438989A	TBCE	NM_003193.5(TBCE):c.1270+67G>A	noncoding	Benign
1	235439089	G	A	G235439089A	TBCE	NM_003193.5(TBCE):c.1270+167G>A	noncoding	Benign
1	235448335	T	C	T235448335C	TBCE	NM_003193.5(TBCE):c.1400-14T>C	coding	Benign/Likely_benign
1	235448656	C	T	C235448656T	TBCE	NM_003193.5(TBCE):c.1492-14C>T	coding	Benign/Likely_benign
1	235449983	C	T	C235449983T	B3GALNT2	NM_152490.5(B3GALNT2):c.*223G>A	noncoding	Benign
1	235453035	T	C	T235453035C	B3GALNT2	NM_152490.5(B3GALNT2):c.1368+55A>G	noncoding	Benign
1	235453097	C	G	C235453097G	B3GALNT2	NM_152490.5(B3GALNT2):c.1361G>C:p.Arg454Thr	coding	Benign
1	235453971	T	A	T235453971A	B3GALNT2	NM_152490.5(B3GALNT2):c.1311+185A>T	noncoding	Benign
1	235454290	G	A	G235454290A	B3GALNT2	NM_152490.5(B3GALNT2):c.1177C>T:p.Arg393Ter	coding	Pathogenic
1	235470961	C	G	C235470961G	B3GALNT2	NM_152490.5(B3GALNT2):c.652-1G>C	coding	Pathogenic
1	235480130	C	T	C235480130T	B3GALNT2	NM_152490.5(B3GALNT2):c.575G>A:p.Arg192His	coding	Benign/Likely_benign
1	235484450	G	A	G235484450A	B3GALNT2	NM_152490.5(B3GALNT2):c.427C>T:p.Arg143Ter	coding	Pathogenic
1	235494808	G	A	G235494808A	B3GALNT2	NM_152490.5(B3GALNT2):c.133C>T:p.Gln45Ter	coding	Pathogenic
1	235504194	C	T	C235504194T	B3GALNT2	NM_152490.5(B3GALNT2):c.59G>A:p.Trp20Ter	coding	Pathogenic
1	235504226	G	T	G235504226T	B3GALNT2	NM_152490.5(B3GALNT2):c.27C>A:p.Cys9Ter	coding	Pathogenic
1	235504601	G	T	G235504601T	B3GALNT2	Single_allele	noncoding	Benign
1	235663283	G	A	G235663283A	LYST	NM_000081.4(LYST):c.11268-205C>T	noncoding	Benign
1	235664143	T	C	T235664143C	LYST	NM_000081.4(LYST):c.11196-88A>G	noncoding	Benign
1	235664575	G	A	G235664575A	LYST	NM_000081.4(LYST):c.11085C>T:p.Leu3695=	coding	Benign/Likely_benign
1	235664659	T	C	T235664659C	LYST	NM_000081.4(LYST):c.11039-38A>G	noncoding	Benign
1	235676994	G	A	G235676994A	LYST	NM_000081.4(LYST):c.11038+97C>T	noncoding	Benign
1	235677032	G	A	G235677032A	LYST	NM_000081.4(LYST):c.11038+59C>T	noncoding	Benign
1	235677127	C	A	C235677127A	LYST	NM_000081.4(LYST):c.11002G>T:p.Glu3668Ter	coding	Pathogenic
1	235677389	C	A	C235677389A	LYST	NM_000081.4(LYST):c.10940+91G>T	noncoding	Benign
1	235677460	T	C	T235677460C	LYST	NM_000081.4(LYST):c.10940+20A>G	noncoding	Benign
1	235693601	G	A	G235693601A	LYST	NM_000081.4(LYST):c.10565-115C>T	noncoding	Benign
1	235697004	T	C	T235697004C	LYST	NM_000081.4(LYST):c.10564+79A>G	noncoding	Benign
1	235697179	C	A	C235697179A	LYST	NM_000081.4(LYST):c.10468G>T:p.Gly3490Ter	coding	Pathogenic
1	235697400	A	G	A235697400G	LYST	NM_000081.4(LYST):c.10375-128T>C	noncoding	Benign
1	235697407	G	A	G235697407A	LYST	NM_000081.4(LYST):c.10375-135C>T	noncoding	Benign
1	235697436	G	A	G235697436A	LYST	NM_000081.4(LYST):c.10375-164C>T	noncoding	Benign
1	235702727	T	C	T235702727C	LYST	NM_000081.4(LYST):c.10374+20A>G	noncoding	Benign
1	235709525	A	G	A235709525G	LYST	NM_000081.4(LYST):c.9926-217T>C	noncoding	Benign
1	235712144	G	A	G235712144A	LYST	NM_000081.4(LYST):c.9838C>T:p.Arg3280Ter	coding	Pathogenic
1	235715394	T	C	T235715394C	LYST	NM_000081.4(LYST):c.9628-37A>G	noncoding	Benign
1	235716469	C	T	C235716469T	LYST	NM_000081.4(LYST):c.9627+243G>A	noncoding	Benign
1	235720409	A	T	A235720409T	LYST	NM_000081.4(LYST):c.9560+252T>A	noncoding	Benign
1	235728065	C	T	C235728065T	LYST	NM_000081.4(LYST):c.9162+11G>A	noncoding	Benign/Likely_benign
1	235728274	T	C	T235728274C	LYST	NM_000081.4(LYST):c.9107-143A>G	noncoding	Benign
1	235729538	T	C	T235729538C	LYST	NM_000081.4(LYST):c.9106+58A>G	noncoding	Benign
1	235729661	T	C	T235729661C	LYST	NM_000081.4(LYST):c.9045-4A>G	noncoding	Benign/Likely_benign
1	235729792	G	A	G235729792A	LYST	NM_000081.4(LYST):c.9045-135C>T	noncoding	Benign
1	235733298	C	A	C235733298A	LYST	NM_000081.4(LYST):c.8801+205G>T	noncoding	Benign
1	235733907	C	T	C235733907T	LYST	NM_000081.4(LYST):c.8536-1G>A	coding	Pathogenic
1	235741420	A	G	A235741420G	LYST	NM_000081.4(LYST):c.8358+2T>C	noncoding	Pathogenic
1	235743930	C	T	C235743930T	LYST	NM_000081.4(LYST):c.8151+49G>A	noncoding	Benign
1	235746185	T	C	T235746185C	LYST	NM_000081.4(LYST):c.7972+151A>G	noncoding	Benign
1	235751345	G	A	G235751345A	LYST	NM_000081.4(LYST):c.7645C>T:p.Gln2549Ter	coding	Pathogenic
1	235752070	C	G	C235752070G	LYST	NM_000081.4(LYST):c.7562G>C:p.Arg2521Thr	coding	Benign
1	235752840	C	T	C235752840T	LYST	NM_000081.4(LYST):c.7460+204G>A	noncoding	Benign
1	235757025	C	T	C235757025T	LYST	NM_000081.4(LYST):c.7059+256G>A	noncoding	Benign
1	235759141	G	A	G235759141A	LYST	NM_000081.4(LYST):c.6712C>T:p.Arg2238Ter	coding	Pathogenic
1	235759301	C	T	C235759301T	LYST	NM_000081.4(LYST):c.6552G>A:p.Gln2184=	coding	Benign
1	235759570	G	A	G235759570A	LYST	NM_000081.4(LYST):c.6283C>T:p.Gln2095Ter	coding	Pathogenic
1	235762702	C	T	C235762702T	LYST	NM_000081.4(LYST):c.6253+18G>A	noncoding	Benign
1	235762903	G	A	G235762903A	LYST	NM_000081.4(LYST):c.6122-52C>T	noncoding	Benign
1	235765937	A	G	A235765937G	LYST	NM_000081.4(LYST):c.6121+142T>C	noncoding	Benign
1	235769968	G	A	G235769968A	LYST	NM_000081.4(LYST):c.5922+192C>T	noncoding	Benign
1	235770059	G	A	G235770059A	LYST	NM_000081.4(LYST):c.5922+101C>T	noncoding	Benign
1	235770060	A	G	A235770060G	LYST	NM_000081.4(LYST):c.5922+100T>C	noncoding	Benign
1	235775056	G	A	G235775056A	LYST	NM_000081.4(LYST):c.5491C>T:p.Gln1831Ter	coding	Pathogenic
1	235775144	A	C	A235775144C	LYST	NM_000081.4(LYST):c.5461-58T>G	noncoding	Benign
1	235776944	G	C	G235776944C	LYST	NM_000081.4(LYST):c.5460+119C>G	noncoding	Benign
1	235781098	A	C	A235781098C	LYST	NM_000081.4(LYST):c.5024-43T>G	noncoding	Benign/Likely_benign
1	235781972	G	A	G235781972A	LYST	NM_000081.4(LYST):c.4978C>T:p.Gln1660Ter	coding	Pathogenic
1	235782098	A	C	A235782098C	LYST	NM_000081.4(LYST):c.4863-11T>G	noncoding	Benign
1	235787522	G	A	G235787522A	LYST	NM_000081.4(LYST):c.4689-149C>T	noncoding	Benign
1	235788682	G	T	G235788682T	LYST	NM_000081.4(LYST):c.4688+19C>A	noncoding	Benign
1	235792289	G	A	G235792289A	LYST	NM_000081.4(LYST):c.4117-164C>T	noncoding	Benign
1	235800584	C	T	C235800584T	LYST	NM_000081.4(LYST):c.3940-198G>A	noncoding	Benign
1	235800811	A	G	A235800811G	LYST	NM_000081.4(LYST):c.3939+60T>C	noncoding	Benign
1	235800840	T	A	T235800840A	LYST	NM_000081.4(LYST):c.3939+31A>T	noncoding	Benign
1	235801123	C	T	C235801123T	LYST	NM_000081.4(LYST):c.3713-26G>A	noncoding	Benign/Likely_benign
1	235802602	C	T	C235802602T	LYST	NM_000081.4(LYST):c.3712+306G>A	noncoding	Benign
1	235802636	T	C	T235802636C	LYST	NM_000081.4(LYST):c.3712+272A>G	noncoding	Benign
1	235803046	C	A	C235803046A	LYST	NM_000081.4(LYST):c.3574G>T:p.Glu1192Ter	coding	Pathogenic
1	235803387	T	G	T235803387G	LYST	NM_000081.4(LYST):c.3556-323A>C	noncoding	Benign
1	235804430	G	A	G235804430A	LYST	NM_000081.4(LYST):c.3555+74C>T	noncoding	Benign
1	235804623	G	A	G235804623A	LYST	NM_000081.4(LYST):c.3436C>T:p.Leu1146Phe	coding	Benign
1	235804755	A	G	A235804755G	LYST	NM_000081.4(LYST):c.3394-90T>C	noncoding	Benign
1	235805489	T	A	T235805489A	LYST	NM_000081.4(LYST):c.3393+254A>T	noncoding	Benign
1	235805517	T	G	T235805517G	LYST	NM_000081.4(LYST):c.3393+226A>C	noncoding	Benign
1	235805666	T	C	T235805666C	LYST	NM_000081.4(LYST):c.3393+77A>G	noncoding	Benign
1	235805681	T	C	T235805681C	LYST	NM_000081.4(LYST):c.3393+62A>G	noncoding	Benign
1	235806174	G	A	G235806174A	LYST	NM_000081.4(LYST):c.2962C>T:p.Arg988Ter	coding	Pathogenic
1	235806876	T	G	T235806876G	LYST	NM_000081.4(LYST):c.2364-104A>C	noncoding	Benign
1	235806982	A	G	A235806982G	LYST	NM_000081.4(LYST):c.2364-210T>C	noncoding	Benign
1	235807024	G	A	G235807024A	LYST	NM_000081.4(LYST):c.2364-252C>T	noncoding	Benign
1	235808207	T	C	T235808207C	LYST	NM_000081.4(LYST):c.2363+248A>G	noncoding	Benign
1	235808339	T	C	T235808339C	LYST	NM_000081.4(LYST):c.2363+116A>G	noncoding	Benign
1	235808438	C	T	C235808438T	LYST	NM_000081.4(LYST):c.2363+17G>A	noncoding	Benign
1	235808921	T	A	T235808921A	LYST	NM_000081.4(LYST):c.1897A>T:p.Lys633Ter	coding	Pathogenic
1	235809132	C	G	C235809132G	LYST	NM_000081.4(LYST):c.1686G>C:p.Gln562His	coding	Benign/Likely_benign
1	235809311	G	A	G235809311A	LYST	NM_000081.4(LYST):c.1507C>T:p.Arg503Ter	coding	Pathogenic/Likely_pathogenic
1	235809412	A	T	A235809412T	LYST	NM_000081.4(LYST):c.1406T>A:p.Leu469Ter	coding	Pathogenic
1	235809833	G	A	G235809833A	LYST	NM_000081.4(LYST):c.985C>T:p.Arg329Ter	coding	Pathogenic
1	235812699	C	A	C235812699A	LYST	NM_000081.4(LYST):c.283+272G>T	noncoding	Benign
1	235812719	G	C	G235812719C	LYST	NM_000081.4(LYST):c.283+252C>G	noncoding	Benign
1	235829974	C	T	C235829974T	LYST	NM_000081.4(LYST):c.192+252G>A	noncoding	Benign
1	235830190	A	G	A235830190G	LYST	NM_000081.4(LYST):c.192+36T>C	noncoding	Benign
1	235977874	T	C	T235977874C	NID1	NM_002508.3(NID1):c.3737A>G:p.Gln1246Arg	coding	Benign
1	235978953	T	G	T235978953G	NID1	NM_002508.3(NID1):c.3622+42A>C	noncoding	Benign
1	235979265	T	C	T235979265C	NID1	NM_002508.3(NID1):c.3510-158A>G	noncoding	Benign
1	235979270	C	G	C235979270G	NID1	NM_002508.3(NID1):c.3510-163G>C	noncoding	Benign
1	235980961	T	C	T235980961C	NID1	NM_002508.3(NID1):c.3228-308A>G	noncoding	Benign
1	235981454	C	A	C235981454A	NID1	NM_002508.3(NID1):c.3227+157G>T	noncoding	Benign
1	235981651	A	G	A235981651G	NID1	NM_002508.3(NID1):c.3187T>C:p.Leu1063=	coding	Benign
1	235981845	T	C	T235981845C	NID1	NM_002508.3(NID1):c.3056-63A>G	noncoding	Benign
1	235981989	A	G	A235981989G	NID1	NM_002508.3(NID1):c.3056-207T>C	noncoding	Benign
1	235990712	C	T	C235990712T	NID1	NM_002508.3(NID1):c.2928+174G>A	noncoding	Benign
1	235991065	G	T	G235991065T	NID1	NM_002508.3(NID1):c.2756-7C>A	noncoding	Benign
1	235993977	T	G	T235993977G	NID1	NM_002508.3(NID1):c.2528-105A>C	noncoding	Benign
1	235994133	A	T	A235994133T	NID1	NM_002508.3(NID1):c.2528-261T>A	noncoding	Benign
1	236012009	A	T	A236012009T	NID1	NM_002508.3(NID1):c.2439T>A:p.Pro813=	coding	Benign
1	236012027	C	A	C236012027A	NID1	NM_002508.3(NID1):c.2421G>T:p.Gln807His	coding	Benign
1	236012039	T	C	T236012039C	NID1	NM_002508.3(NID1):c.2409A>G:p.Val803=	coding	Benign
1	236013690	T	C	T236013690C	NID1	NM_002508.3(NID1):c.2255-130A>G	noncoding	Benign
1	236013882	A	G	A236013882G	NID1	NM_002508.3(NID1):c.2255-322T>C	noncoding	Benign
1	236016880	A	C	A236016880C	NID1	NM_002508.3(NID1):c.2254+268T>G	noncoding	Benign
1	236017280	C	G	C236017280G	NID1	NM_002508.3(NID1):c.2129-7G>C	noncoding	Benign
1	236024065	T	C	T236024065C	NID1	NM_002508.3(NID1):c.2128+5A>G	noncoding	Benign
1	236025978	C	T	C236025978T	NID1	NM_002508.3(NID1):c.1902G>A:p.Ser634=	coding	Benign
1	236026422	G	T	G236026422T	NID1	NM_002508.3(NID1):c.1739-281C>A	noncoding	Benign
1	236029255	C	G	C236029255G	NID1	NM_002508.3(NID1):c.1738+295G>C	noncoding	Benign
1	236029373	C	G	C236029373G	NID1	NM_002508.3(NID1):c.1738+177G>C	noncoding	Benign
1	236029482	G	A	G236029482A	NID1	NM_002508.3(NID1):c.1738+68C>T	noncoding	Benign
1	236029845	G	C	G236029845C	NID1	NM_002508.3(NID1):c.1538-95C>G	noncoding	Benign
1	236038309	T	G	T236038309G	NID1	NM_002508.3(NID1):c.1136-56A>C	noncoding	Benign
1	236041761	C	T	C236041761T	NID1	NM_002508.3(NID1):c.1135+149G>A	noncoding	Benign
1	236041790	C	T	C236041790T	NID1	NM_002508.3(NID1):c.1135+120G>A	noncoding	Benign
1	236041821	T	C	T236041821C	NID1	NM_002508.3(NID1):c.1135+89A>G	noncoding	Benign
1	236042404	C	T	C236042404T	NID1	NM_002508.3(NID1):c.753-112G>A	noncoding	Benign
1	236045388	A	G	A236045388G	NID1	NM_002508.3(NID1):c.752+69T>C	noncoding	Benign
1	236045389	T	A	T236045389A	NID1	NM_002508.3(NID1):c.752+68A>T	noncoding	Benign
1	236045473	C	T	C236045473T	NID1	NM_002508.3(NID1):c.736G>A:p.Val246Ile	coding	Benign
1	236045724	C	G	C236045724G	NID1	NM_002508.3(NID1):c.526-41G>C	noncoding	Benign
1	236045781	G	A	G236045781A	NID1	NM_002508.3(NID1):c.526-98C>T	noncoding	Benign
1	236046033	T	A	T236046033A	NID1	NM_002508.3(NID1):c.526-350A>T	noncoding	Benign
1	236065352	C	A	C236065352A	NID1	Single_allele	noncoding	Benign
1	236065381	G	A	G236065381A	NID1	Single_allele	noncoding	Benign
1	236065486	T	C	T236065486C	NID1	Single_allele	noncoding	Benign
1	236394112	T	G	T236394112G	EDARADD	Single_allele	noncoding	Benign
1	236394623	G	T	G236394623T	EDARADD	NM_145861.4(EDARADD):c.61+118G>T	noncoding	Benign
1	236395749	G	A	G236395749A	EDARADD	NM_145861.4(EDARADD):c.61+1244G>A	noncoding	Benign
1	236409089	G	A	G236409089A	EDARADD	NM_145861.4(EDARADD):c.62-127G>A	noncoding	Benign
1	236409175	A	G	A236409175G	EDARADD	NM_145861.4(EDARADD):c.62-41A>G	noncoding	Benign
1	236409239	G	A	G236409239A	EDARADD	NM_145861.4(EDARADD):c.85G>A:p.Glu29Lys	coding	Pathogenic
1	236414050	T	C	T236414050C	EDARADD	NM_145861.4(EDARADD):c.121-210T>C	noncoding	Benign
1	236414241	C	T	C236414241T	EDARADD	NM_145861.4(EDARADD):c.121-19C>T	noncoding	Benign
1	236414461	T	C	T236414461C	EDARADD	NM_145861.4(EDARADD):c.160+162T>C	noncoding	Benign
1	236414462	C	T	C236414462T	EDARADD	NM_145861.4(EDARADD):c.160+163C>T	noncoding	Benign
1	236414500	G	A	G236414500A	EDARADD	NM_145861.4(EDARADD):c.160+201G>A	noncoding	Benign
1	236414546	G	A	G236414546A	EDARADD	NM_145861.4(EDARADD):c.160+247G>A	noncoding	Benign
1	236427197	C	G	C236427197G	EDARADD	NM_145861.4(EDARADD):c.161-195C>G	noncoding	Benign
1	236427263	C	T	C236427263T	EDARADD	NM_145861.4(EDARADD):c.161-129C>T	noncoding	Benign
1	236427329	C	T	C236427329T	EDARADD	NM_145861.4(EDARADD):c.161-63C>T	noncoding	Benign
1	236427359	G	C	G236427359C	EDARADD	NM_145861.4(EDARADD):c.161-33G>C	noncoding	Benign
1	236427516	T	G	T236427516G	EDARADD	NM_145861.4(EDARADD):c.219+66T>G	noncoding	Benign
1	236427703	T	A	T236427703A	EDARADD	NM_145861.4(EDARADD):c.219+253T>A	noncoding	Benign
1	236482140	C	T	C236482140T	EDARADD	NM_145861.4(EDARADD):c.266-127C>T	noncoding	Benign
1	236482571	C	A	C236482571A	EDARADD	NM_145861.4(EDARADD):c.570C>A:p.Asp190Glu	coding	Pathogenic
1	236484762	G	A	G236484762A	EDARADD	NM_145861.4(EDARADD):c.*2113G>A	noncoding	Benign
1	236719006	C	T	C236719006T	ACTN2	NM_001103.4(ACTN2):c.354C>T:p.Gly118=	coding	Benign/Likely_benign
1	236719849	C	T	C236719849T	ACTN2	NM_001103.4(ACTN2):c.362-256C>T	noncoding	Benign
1	236727961	G	A	G236727961A	ACTN2	NM_001103.4(ACTN2):c.615+205G>A	noncoding	Benign
1	236737298	C	T	C236737298T	ACTN2	NM_001103.4(ACTN2):c.876+84C>T	noncoding	Benign
1	236737299	A	T	A236737299T	ACTN2	NM_001103.4(ACTN2):c.876+85A>T	noncoding	Benign
1	236737436	C	T	C236737436T	ACTN2	NM_001103.4(ACTN2):c.876+222C>T	noncoding	Benign
1	236744844	T	C	T236744844C	ACTN2	NM_001103.4(ACTN2):c.1406+68T>C	noncoding	Benign
1	236747682	C	T	C236747682T	ACTN2	NM_001103.4(ACTN2):c.1422C>T:p.His474=	coding	Benign/Likely_benign
1	236747693	A	T	A236747693T	ACTN2	NM_001103.4(ACTN2):c.1433A>T:p.Asn478Ile	coding	Benign
1	236747772	A	G	A236747772G	ACTN2	NM_001103.4(ACTN2):c.1512A>G:p.Leu504=	coding	Benign/Likely_benign
1	236747837	A	G	A236747837G	ACTN2	NM_001103.4(ACTN2):c.1515+62A>G	noncoding	Benign
1	236755013	C	G	C236755013G	ACTN2	NM_001103.4(ACTN2):c.1975-6C>G	noncoding	Benign
1	236755444	C	A	C236755444A	ACTN2	NM_001103.4(ACTN2):c.2154+246C>A	noncoding	Benign
1	236757880	A	G	A236757880G	ACTN2	NM_001103.4(ACTN2):c.2301+248A>G	noncoding	Benign
1	236761440	T	C	T236761440C	ACTN2	NM_001103.4(ACTN2):c.2526+267T>C	noncoding	Benign
1	236762730	A	G	A236762730G	ACTN2	NM_001103.4(ACTN2):c.*111A>G	noncoding	Benign/Likely_benign
1	236795083	A	C	A236795083C	MTR	Single_allele	noncoding	Benign
1	236795178	T	A	T236795178A	MTR	Single_allele	noncoding	Benign
1	236795215	C	T	C236795215T	MTR	Single_allele	noncoding	Benign
1	236795232	G	T	G236795232T	MTR	Single_allele	noncoding	Benign
1	236795782	C	T	C236795782T	MTR	NM_000254.3(MTR):c.34+45C>T	noncoding	Benign
1	236795952	G	A	G236795952A	MTR	NM_000254.3(MTR):c.34+215G>A	noncoding	Benign
1	236803886	A	T	A236803886T	MTR	NM_000254.3(MTR):c.249+244A>T	noncoding	Benign
1	236808538	A	G	A236808538G	MTR	NM_000254.3(MTR):c.340-166A>G	noncoding	Pathogenic
1	236808683	C	T	C236808683T	MTR	NM_000254.3(MTR):c.340-21C>T	noncoding	Benign
1	236808886	A	G	A236808886G	MTR	NM_000254.3(MTR):c.409+113A>G	noncoding	Benign
1	236809007	C	A	C236809007A	MTR	NM_000254.3(MTR):c.409+234C>A	noncoding	Benign
1	236809027	G	A	G236809027A	MTR	NM_000254.3(MTR):c.409+254G>A	noncoding	Benign
1	236810824	G	A	G236810824A	MTR	NM_000254.3(MTR):c.502+229G>A	noncoding	Benign
1	236813747	A	T	A236813747T	MTR	NM_000254.3(MTR):c.609+903A>T	noncoding	Benign
1	236813843	T	C	T236813843C	MTR	NM_000254.3(MTR):c.609+999T>C	noncoding	Benign
1	236813932	G	A	G236813932A	MTR	NM_000254.3(MTR):c.609+1088G>A	noncoding	Pathogenic
1	236813977	A	C	A236813977C	MTR	NM_000254.3(MTR):c.609+1133A>C	noncoding	Benign
1	236814209	G	A	G236814209A	MTR	NM_000254.3(MTR):c.609+1365G>A	noncoding	Benign
1	236815683	C	T	C236815683T	MTR	NM_000254.3(MTR):c.669+20C>T	noncoding	Benign/Likely_benign
1	236816297	A	G	A236816297G	MTR	NM_000254.3(MTR):c.670-152A>G	noncoding	Benign
1	236816464	G	A	G236816464A	MTR	NM_000254.3(MTR):c.685G>A:p.Val229Ile	coding	Benign
1	236816559	T	C	T236816559C	MTR	NM_000254.3(MTR):c.764+16T>C	noncoding	Benign/Likely_benign
1	236823885	G	A	G236823885A	MTR	NM_000254.3(MTR):c.765-234G>A	noncoding	Benign
1	236824490	G	T	G236824490T	MTR	NM_000254.3(MTR):c.865+271G>T	noncoding	Benign
1	236825063	G	A	G236825063A	MTR	NM_000254.3(MTR):c.866-275G>A	noncoding	Benign
1	236825086	G	A	G236825086A	MTR	NM_000254.3(MTR):c.866-252G>A	noncoding	Benign
1	236826591	C	T	C236826591T	MTR	NM_000254.3(MTR):c.928-238C>T	noncoding	Benign
1	236831955	C	T	C236831955T	MTR	NM_000254.3(MTR):c.1076-11C>T	noncoding	Benign/Likely_benign
1	236835862	G	T	G236835862T	MTR	NM_000254.3(MTR):c.1329+175G>T	noncoding	Benign
1	236838103	C	T	C236838103T	MTR	NM_000254.3(MTR):c.1330-311C>T	noncoding	Benign
1	236838245	A	G	A236838245G	MTR	NM_000254.3(MTR):c.1330-169A>G	noncoding	Benign
1	236838626	A	G	A236838626G	MTR	NM_000254.3(MTR):c.1515+27A>G	noncoding	Benign
1	236850073	T	C	T236850073C	MTR	NM_000254.3(MTR):c.1516-271T>C	noncoding	Benign
1	236850251	T	C	T236850251C	MTR	NM_000254.3(MTR):c.1516-93T>C	noncoding	Benign
1	236850253	T	A	T236850253A	MTR	NM_000254.3(MTR):c.1516-91T>A	noncoding	Benign
1	236852328	C	T	C236852328T	MTR	NM_000254.3(MTR):c.1696-193C>T	noncoding	Benign
1	236852596	C	T	C236852596T	MTR	NM_000254.3(MTR):c.1771C>T:p.Arg591Ter	coding	Pathogenic
1	236852845	A	G	A236852845G	MTR	NM_000254.3(MTR):c.1813-103A>G	noncoding	Benign
1	236853323	G	T	G236853323T	MTR	NM_000254.3(MTR):c.1953+235G>T	noncoding	Benign
1	236859570	T	C	T236859570C	MTR	NM_000254.3(MTR):c.1954-263T>C	noncoding	Benign
1	236859838	A	C	A236859838C	MTR	NM_000254.3(MTR):c.1959A>C:p.Gln653His	coding	Benign
1	236860033	T	C	T236860033C	MTR	NM_000254.3(MTR):c.2043+111T>C	noncoding	Benign
1	236860094	A	G	A236860094G	MTR	NM_000254.3(MTR):c.2043+172A>G	noncoding	Benign
1	236860142	G	A	G236860142A	MTR	NM_000254.3(MTR):c.2043+220G>A	noncoding	Benign
1	236860176	G	T	G236860176T	MTR	NM_000254.3(MTR):c.2043+254G>T	noncoding	Benign
1	236860802	A	G	A236860802G	MTR	NM_000254.3(MTR):c.2044-323A>G	noncoding	Benign
1	236860814	C	G	C236860814G	MTR	NM_000254.3(MTR):c.2044-311C>G	noncoding	Benign
1	236861104	T	C	T236861104C	MTR	NM_000254.3(MTR):c.2044-21T>C	noncoding	Benign
1	236861454	G	C	G236861454C	MTR	NM_000254.3(MTR):c.2196+177G>C	noncoding	Benign
1	236862637	C	G	C236862637G	MTR	NM_000254.3(MTR):c.2304+294C>G	noncoding	Benign
1	236863140	C	T	C236863140T	MTR	NM_000254.3(MTR):c.2305-314C>T	noncoding	Benign
1	236863753	C	A	C236863753A	MTR	NM_000254.3(MTR):c.2405+199C>A	noncoding	Benign
1	236863755	G	A	G236863755A	MTR	NM_000254.3(MTR):c.2405+201G>A	noncoding	Benign
1	236873498	T	C	T236873498C	MTR	NM_000254.3(MTR):c.2406-275T>C	noncoding	Benign
1	236873547	T	C	T236873547C	MTR	NM_000254.3(MTR):c.2406-226T>C	noncoding	Benign
1	236873935	C	T	C236873935T	MTR	NM_000254.3(MTR):c.2473+95C>T	noncoding	Benign
1	236873957	C	A	C236873957A	MTR	NM_000254.3(MTR):c.2473+117C>A	noncoding	Benign
1	236874019	C	T	C236874019T	MTR	NM_000254.3(MTR):c.2473+179C>T	noncoding	Benign
1	236874707	T	A	T236874707A	MTR	NM_000254.3(MTR):c.2474-19T>A	noncoding	Benign
1	236874709	A	T	A236874709T	MTR	NM_000254.3(MTR):c.2474-17A>T	noncoding	Benign/Likely_benign
1	236874710	A	T	A236874710T	MTR	NM_000254.3(MTR):c.2474-16A>T	noncoding	Benign
1	236884830	G	C	G236884830C	MTR	NM_000254.3(MTR):c.2677-291G>C	noncoding	Benign
1	236885147	A	G	A236885147G	MTR	NM_000254.3(MTR):c.2703A>G:p.Leu901=	coding	Benign/Likely_benign
1	236885262	G	A	G236885262A	MTR	NM_000254.3(MTR):c.2775+43G>A	noncoding	Benign
1	236885376	G	T	G236885376T	MTR	NM_000254.3(MTR):c.2775+157G>T	noncoding	Benign
1	236886129	A	T	A236886129T	MTR	NM_000254.3(MTR):c.2776-163A>T	noncoding	Benign
1	236886579	C	T	C236886579T	MTR	NM_000254.3(MTR):c.2851+212C>T	noncoding	Benign
1	236889356	C	A	C236889356A	MTR	NM_000254.3(MTR):c.3007+20C>A	noncoding	Benign/Likely_benign
1	236889492	T	A	T236889492A	MTR	NM_000254.3(MTR):c.3007+156T>A	noncoding	Benign
1	236891499	A	G	A236891499G	MTR	NM_000254.3(MTR):c.3204+170A>G	noncoding	Benign
1	236893889	C	G	C236893889G	MTR	NM_000254.3(MTR):c.3205-468C>G	noncoding	Benign
1	236894308	G	A	G236894308A	MTR	NM_000254.3(MTR):c.3205-49G>A	noncoding	Benign
1	236894582	G	A	G236894582A	MTR	NM_000254.3(MTR):c.3405+25G>A	noncoding	Benign
1	236895062	C	T	C236895062T	MTR	NM_000254.3(MTR):c.3406-296C>T	noncoding	Benign
1	236896761	G	A	G236896761A	MTR	NM_000254.3(MTR):c.3599-245G>A	noncoding	Benign
1	236897316	A	G	A236897316G	MTR	NM_000254.3(MTR):c.3711+198A>G	noncoding	Benign
1	236897620	C	T	C236897620T	MTR	NM_000254.3(MTR):c.3774C>T:p.Pro1258=	coding	Benign
1	237042069	C	G	C237042069G	RYR2	Single_allele	noncoding	Benign
1	237042215	C	T	C237042215T	RYR2	NM_001035.3(RYR2):c.-307C>T	noncoding	Benign
1	237042322	C	A	C237042322A	RYR2	NM_001035.3(RYR2):c.-200C>A	noncoding	Benign
1	237042383	C	A	C237042383A	RYR2	NM_001035.3(RYR2):c.-139C>A	noncoding	Benign
1	237042383	C	T	C237042383T	RYR2	NM_001035.3(RYR2):c.-139C>T	noncoding	Benign
1	237042394	A	C	A237042394C	RYR2	NM_001035.3(RYR2):c.-128A>C	noncoding	Benign
1	237042429	C	T	C237042429T	RYR2	NM_001035.3(RYR2):c.-93C>T	noncoding	Benign
1	237042475	A	C	A237042475C	RYR2	NM_001035.3(RYR2):c.-47A>C	noncoding	Benign
1	237356000	G	A	G237356000A	RYR2	NM_001035.3(RYR2):c.294+15G>A	noncoding	Benign/Likely_benign
1	237369463	T	G	T237369463G	RYR2	NM_001035.3(RYR2):c.310-71T>G	noncoding	Benign
1	237369569	C	T	C237369569T	RYR2	NM_001035.3(RYR2):c.345C>T:p.Tyr115=	coding	Benign/Likely_benign
1	237369572	A	G	A237369572G	RYR2	NM_001035.3(RYR2):c.348A>G:p.Gly116=	coding	Benign/Likely_benign
1	237374734	C	T	C237374734T	RYR2	NM_001035.3(RYR2):c.402C>T:p.Ser134=	coding	Benign/Likely_benign
1	237377373	G	A	G237377373A	RYR2	NM_001035.3(RYR2):c.514G>A:p.Gly172Arg	coding	Pathogenic
1	237387067	C	A	C237387067A	RYR2	NM_001035.3(RYR2):c.577-214C>A	noncoding	Benign
1	237387431	G	A	G237387431A	RYR2	NM_001035.3(RYR2):c.676+51G>A	noncoding	Benign
1	237416759	C	G	C237416759G	RYR2	NM_001035.3(RYR2):c.774-290C>G	noncoding	Benign
1	237416761	C	G	C237416761G	RYR2	NM_001035.3(RYR2):c.774-288C>G	noncoding	Benign
1	237416763	C	G	C237416763G	RYR2	NM_001035.3(RYR2):c.774-286C>G	noncoding	Benign
1	237441390	A	G	A237441390G	RYR2	NM_001035.3(RYR2):c.1077A>G:p.Ser359=	coding	Benign/Likely_benign
1	237456343	T	C	T237456343C	RYR2	NM_001035.3(RYR2):c.1477-257T>C	noncoding	Benign
1	237456353	A	G	A237456353G	RYR2	NM_001035.3(RYR2):c.1477-247A>G	noncoding	Benign
1	237456486	A	G	A237456486G	RYR2	NM_001035.3(RYR2):c.1477-114A>G	noncoding	Benign
1	237456641	C	T	C237456641T	RYR2	NM_001035.3(RYR2):c.1518C>T:p.His506=	coding	Benign/Likely_benign
1	237496498	C	T	C237496498T	RYR2	NM_001035.3(RYR2):c.1962-13C>T	noncoding	Benign/Likely_benign
1	237500920	T	G	T237500920G	RYR2	NM_001035.3(RYR2):c.2396+17T>G	noncoding	Benign/Likely_benign
1	237511556	G	A	G237511556A	RYR2	NM_001035.3(RYR2):c.2719-132G>A	noncoding	Benign
1	237530587	C	A	C237530587A	RYR2	NM_001035.3(RYR2):c.2906+77C>A	noncoding	Benign
1	237548412	C	T	C237548412T	RYR2	NM_001035.3(RYR2):c.2907-19C>T	noncoding	Benign
1	237550529	T	C	T237550529C	RYR2	NM_001035.3(RYR2):c.3067-15T>C	noncoding	Benign/Likely_benign
1	237569228	C	T	C237569228T	RYR2	NM_001035.3(RYR2):c.3507C>T:p.Asn1169=	coding	Benign/Likely_benign
1	237590666	C	T	C237590666T	RYR2	NM_001035.3(RYR2):c.3834C>T:p.Asp1278=	coding	Benign/Likely_benign
1	237590753	G	A	G237590753A	RYR2	NM_001035.3(RYR2):c.3921G>A:p.Pro1307=	coding	Benign/Likely_benign
1	237590783	G	A	G237590783A	RYR2	NM_001035.3(RYR2):c.3951G>A:p.Thr1317=	coding	Benign/Likely_benign
1	237591103	T	C	T237591103C	RYR2	NM_001035.3(RYR2):c.4160+111T>C	noncoding	Benign
1	237601778	G	A	G237601778A	RYR2	NM_001035.3(RYR2):c.4597-247G>A	noncoding	Benign
1	237602090	G	A	G237602090A	RYR2	NM_001035.3(RYR2):c.4662G>A:p.Gln1554=	coding	Benign/Likely_benign
1	237614765	T	C	T237614765C	RYR2	NM_001035.3(RYR2):c.5637T>C:p.Gly1879=	coding	Benign/Likely_benign
1	237617229	T	C	T237617229C	RYR2	NM_001035.3(RYR2):c.5716-57T>C	noncoding	Benign
1	237617324	C	T	C237617324T	RYR2	NM_001035.3(RYR2):c.5754C>T:p.Val1918=	coding	Benign/Likely_benign
1	237623753	T	G	T237623753G	RYR2	NM_001035.3(RYR2):c.5917-12T>G	noncoding	Benign/Likely_benign
1	237635042	G	A	G237635042A	RYR2	NM_001035.3(RYR2):c.6792+50G>A	noncoding	Benign/Likely_benign
1	237638464	C	G	C237638464G	RYR2	NM_001035.3(RYR2):c.6900C>G:p.Asp2300Glu	coding	Pathogenic
1	237639019	G	C	G237639019C	RYR2	NM_001035.3(RYR2):c.6933G>C:p.Glu2311Asp	coding	Pathogenic
1	237639169	T	C	T237639169C	RYR2	NM_001035.3(RYR2):c.7083T>C:p.Gly2361=	coding	Benign/Likely_benign
1	237639379	G	A	G237639379A	RYR2	NM_001035.3(RYR2):c.7115+178G>A	noncoding	Benign
1	237640994	G	A	G237640994A	RYR2	NM_001035.3(RYR2):c.7213G>A:p.Glu2405Lys	coding	Pathogenic
1	237643519	G	A	G237643519A	RYR2	NM_001035.3(RYR2):c.7342+72G>A	noncoding	Benign
1	237648783	T	G	T237648783G	RYR2	NM_001035.3(RYR2):c.7512+170T>G	noncoding	Benign
1	237649944	T	G	T237649944G	RYR2	NM_001035.3(RYR2):c.7580T>G:p.Leu2527Trp	coding	Pathogenic
1	237651345	T	C	T237651345C	RYR2	NM_001035.3(RYR2):c.7734-66T>C	noncoding	Benign
1	237657978	A	G	A237657978G	RYR2	NM_001035.3(RYR2):c.8164A>G:p.Asn2722Asp	coding	Benign
1	237661174	T	C	T237661174C	RYR2	NM_001035.3(RYR2):c.8436+227T>C	noncoding	Benign
1	237674701	G	A	G237674701A	RYR2	NM_001035.3(RYR2):c.8715-30G>A	noncoding	Benign/Likely_benign
1	237700209	C	G	C237700209G	RYR2	NM_001035.3(RYR2):c.9129-20C>G	noncoding	Benign
1	237700350	C	A	C237700350A	RYR2	NM_001035.3(RYR2):c.9250C>A:p.Arg3084=	coding	Benign
1	237700452	G	A	G237700452A	RYR2	NM_001035.3(RYR2):c.9352G>A:p.Gly3118Arg	coding	Pathogenic
1	237702075	G	A	G237702075A	RYR2	NM_001035.3(RYR2):c.9449+16G>A	noncoding	Benign/Likely_benign
1	237706404	C	A	C237706404A	RYR2	NM_001035.3(RYR2):c.9581-545C>A	noncoding	Benign
1	237707181	G	A	G237707181A	RYR2	NM_001035.3(RYR2):c.9813G>A:p.Glu3271=	coding	Benign/Likely_benign
1	237708611	A	T	A237708611T	RYR2	NM_001035.3(RYR2):c.9902-247A>T	noncoding	Benign
1	237709462	A	G	A237709462G	RYR2	NM_001035.3(RYR2):c.10143-18A>G	noncoding	Benign
1	237717255	A	G	A237717255G	RYR2	NM_001035.3(RYR2):c.10381A>G:p.Met3461Val	coding	Benign/Likely_benign
1	237718537	T	C	T237718537C	RYR2	NM_001035.3(RYR2):c.10554+16T>C	noncoding	Benign/Likely_benign
1	237726541	C	A	C237726541A	RYR2	NM_001035.3(RYR2):c.10725+233C>A	noncoding	Benign
1	237730373	G	T	G237730373T	RYR2	NM_001035.3(RYR2):c.10935+17G>T	noncoding	Benign
1	237742121	T	G	T237742121G	RYR2	NM_001035.3(RYR2):c.11092-175T>G	noncoding	Benign
1	237742331	G	A	G237742331A	RYR2	NM_001035.3(RYR2):c.11127G>A:p.Glu3709=	coding	Benign/Likely_benign
1	237757631	G	A	G237757631A	RYR2	NM_001035.3(RYR2):c.11246-66G>A	noncoding	Benign
1	237759943	A	G	A237759943G	RYR2	NM_001035.3(RYR2):c.11402+91A>G	noncoding	Benign
1	237772118	T	A	T237772118A	RYR2	NM_001035.3(RYR2):c.11646+18T>A	noncoding	Benign/Likely_benign
1	237781514	C	T	C237781514T	RYR2	NM_001035.3(RYR2):c.11881-51C>T	noncoding	Benign
1	237783695	A	C	A237783695C	RYR2	NM_001035.3(RYR2):c.11983A>C:p.Ile3995Leu	coding	Pathogenic
1	237783981	C	T	C237783981T	RYR2	NM_001035.3(RYR2):c.12269C>T:p.Pro4090Leu	coding	Pathogenic
1	237783984	C	T	C237783984T	RYR2	NM_001035.3(RYR2):c.12272C>T:p.Ala4091Val	coding	Pathogenic
1	237784046	G	A	G237784046A	RYR2	NM_001035.3(RYR2):c.12334G>A:p.Asp4112Asn	coding	Pathogenic
1	237784158	A	G	A237784158G	RYR2	NM_001035.3(RYR2):c.12446A>G:p.Tyr4149Cys	coding	Pathogenic
1	237784176	C	A	C237784176A	RYR2	NM_001035.3(RYR2):c.12464C>A:p.Ser4155Tyr	coding	Pathogenic
1	237784182	G	A	G237784182A	RYR2	NM_001035.3(RYR2):c.12470G>A:p.Arg4157Gln	coding	Pathogenic
1	237784299	C	T	C237784299T	RYR2	NM_001035.3(RYR2):c.12587C>T:p.Thr4196Ile	coding	Pathogenic
1	237785951	C	T	C237785951T	RYR2	NM_001035.3(RYR2):c.13261-18C>T	noncoding	Benign/Likely_benign
1	237791424	C	T	C237791424T	RYR2	NM_001035.3(RYR2):c.13477-5C>T	noncoding	Benign
1	237792236	C	T	C237792236T	RYR2	NM_001035.3(RYR2):c.13695C>T:p.Ser4565=	coding	Benign/Likely_benign
1	237792378	T	C	T237792378C	RYR2	NM_001035.3(RYR2):c.13782+55T>C	noncoding	Benign
1	237792380	T	C	T237792380C	RYR2	NM_001035.3(RYR2):c.13782+57T>C	noncoding	Benign
1	237792382	C	T	C237792382T	RYR2	NM_001035.3(RYR2):c.13782+59C>T	noncoding	Benign
1	237792384	T	C	T237792384C	RYR2	NM_001035.3(RYR2):c.13782+61T>C	noncoding	Benign
1	237792401	G	A	G237792401A	RYR2	NM_001035.3(RYR2):c.13782+78G>A	noncoding	Benign
1	237793882	T	C	T237793882C	RYR2	NM_001035.3(RYR2):c.13798T>C:p.Phe4600Leu	coding	Pathogenic
1	237794981	C	T	C237794981T	RYR2	NM_001035.3(RYR2):c.13914-308C>T	noncoding	Benign
1	237798100	A	G	A237798100G	RYR2	NM_001035.3(RYR2):c.14020A>G:p.Lys4674Glu	coding	Pathogenic
1	237801866	A	G	A237801866G	RYR2	NM_001035.3(RYR2):c.14101A>G:p.Ile4701Val	coding	Benign/Likely_benign
1	237806121	C	T	C237806121T	RYR2	NM_001035.3(RYR2):c.14152-16C>T	noncoding	Benign/Likely_benign
1	237806338	A	G	A237806338G	RYR2	NM_001035.3(RYR2):c.14298+55A>G	noncoding	Benign
1	237818970	C	T	C237818970T	RYR2	NM_001035.3(RYR2):c.14434-66C>T	noncoding	Benign
1	237828390	T	C	T237828390C	RYR2	NM_001035.3(RYR2):c.14600T>C:p.Ile4867Thr	coding	Pathogenic
1	237828428	G	A	G237828428A	RYR2	NM_001035.3(RYR2):c.14638G>A:p.Val4880Ile	coding	Pathogenic
1	237831507	T	A	T237831507A	RYR2	NM_001035.3(RYR2):c.14757-7T>A	noncoding	Benign/Likely_benign
1	237831508	C	T	C237831508T	RYR2	NM_001035.3(RYR2):c.14757-6C>T	noncoding	Benign/Likely_benign
1	237832659	A	G	A237832659G	RYR2	NM_001035.3(RYR2):c.*12A>G	noncoding	Benign
1	237832760	T	G	T237832760G	RYR2	NM_001035.3(RYR2):c.*113T>G	noncoding	Benign
1	237832811	C	G	C237832811G	RYR2	NM_001035.3(RYR2):c.*164C>G	noncoding	Benign
1	237833039	T	C	T237833039C	RYR2	NM_001035.3(RYR2):c.*392T>C	noncoding	Benign
1	239907303	T	C	T239907303C	CHRM3	NM_001375978.1(CHRM3):c.-19-130T>C	noncoding	Benign
1	239907644	G	A	G239907644A	CHRM3	NM_001375978.1(CHRM3):c.193G>A:p.Val65Ile	coding	Benign
1	239909368	T	C	T239909368C	CHRM3	NM_001375978.1(CHRM3):c.*144T>C	noncoding	Benign
1	240093522	C	A	C240093522A	FMN2	NM_020066.5(FMN2):c.1413C>A:p.Ala471=	coding	Benign
1	240123181	C	T	C240123181T	FMN2	NM_020066.5(FMN2):c.1618C>T:p.Arg540Ter	coding	Pathogenic
1	240177968	A	G	A240177968G	FMN2	NM_020066.5(FMN2):c.1830A>G:p.Ser610=	coding	Benign
1	240207329	C	G	C240207329G	FMN2	NM_020066.5(FMN2):c.2517C>G:p.Thr839=	coding	Benign
1	240207685	C	T	C240207685T	FMN2	NM_020066.5(FMN2):c.2873C>T:p.Pro958Leu	coding	Benign
1	240208028	G	A	G240208028A	FMN2	NM_020066.5(FMN2):c.3216G>A:p.Ala1072=	coding	Benign
1	240208304	A	T	A240208304T	FMN2	NM_020066.5(FMN2):c.3492A>T:p.Pro1164=	coding	Benign
1	240329434	G	A	G240329434A	FMN2	NM_020066.5(FMN2):c.4403G>A:p.Arg1468His	coding	Benign
1	241497862	C	T	C241497862T	FH	NM_000143.4(FH):c.1499G>A:p.Trp500Ter	coding	Pathogenic
1	241497904	G	T	G241497904T	FH	NM_000143.4(FH):c.1457C>A:p.Ala486Asp	coding	Pathogenic
1	241497967	T	C	T241497967C	FH	NM_000143.4(FH):c.1394A>G:p.Tyr465Cys	coding	Pathogenic/Likely_pathogenic
1	241500161	C	T	C241500161T	FH	NM_000143.4(FH):c.1390+276G>A	noncoding	Benign
1	241500176	A	G	A241500176G	FH	NM_000143.4(FH):c.1390+261T>C	noncoding	Benign
1	241500469	A	G	A241500469G	FH	NM_000143.4(FH):c.1358T>C:p.Leu453Pro	coding	Pathogenic
1	241500497	T	C	T241500497C	FH	NM_000143.4(FH):c.1330A>G:p.Arg444Gly	coding	Pathogenic
1	241500527	A	G	A241500527G	FH	NM_000143.4(FH):c.1300T>C:p.Cys434Arg	coding	Pathogenic
1	241500592	T	C	T241500592C	FH	NM_000143.4(FH):c.1237-2A>G	noncoding	Pathogenic
1	241502210	A	G	A241502210G	FH	NM_000143.4(FH):c.1236+233T>C	noncoding	Benign
1	241502441	A	C	A241502441C	FH	NM_000143.4(FH):c.1236+2T>G	noncoding	Pathogenic
1	241502483	C	T	C241502483T	FH	NM_000143.4(FH):c.1196G>A:p.Ser399Asn	coding	Pathogenic
1	241502502	C	G	C241502502G	FH	NM_000143.4(FH):c.1177G>C:p.Ala393Pro	coding	Pathogenic
1	241502522	T	C	T241502522C	FH	NM_000143.4(FH):c.1157A>G:p.Gln386Arg	coding	Pathogenic/Likely_pathogenic
1	241502535	T	C	T241502535C	FH	NM_000143.4(FH):c.1144A>G:p.Met382Val	coding	Pathogenic/Likely_pathogenic
1	241502568	T	A	T241502568A	FH	NM_000143.4(FH):c.1111A>T:p.Lys371Ter	coding	Pathogenic
1	241503933	C	T	C241503933T	FH	NM_000143.4(FH):c.1108+109G>A	noncoding	Benign
1	241503944	G	T	G241503944T	FH	NM_000143.4(FH):c.1108+98C>A	noncoding	Benign
1	241504056	C	T	C241504056T	FH	NM_000143.4(FH):c.1094G>A:p.Ser365Asn	coding	Pathogenic/Likely_pathogenic
1	241504127	A	C	A241504127C	FH	NM_000143.4(FH):c.1023T>G:p.Asp341Glu	coding	Pathogenic
1	241504129	C	T	C241504129T	FH	NM_000143.4(FH):c.1021G>A:p.Asp341Asn	coding	Pathogenic/Likely_pathogenic
1	241504200	G	A	G241504200A	FH	NM_000143.4(FH):c.950C>T:p.Ala317Val	coding	Pathogenic
1	241504203	G	T	G241504203T	FH	NM_000143.4(FH):c.947C>A:p.Ala316Asp	coding	Pathogenic/Likely_pathogenic
1	241504215	A	G	A241504215G	FH	NM_000143.4(FH):c.935T>C:p.Phe312Ser	coding	Pathogenic/Likely_pathogenic
1	241504216	A	G	A241504216G	FH	NM_000143.4(FH):c.934T>C:p.Phe312Leu	coding	Pathogenic/Likely_pathogenic
1	241504227	G	C	G241504227C	FH	NM_000143.4(FH):c.923C>G:p.Ala308Gly	coding	Pathogenic/Likely_pathogenic
1	241504236	A	G	A241504236G	FH	NM_000143.4(FH):c.914T>C:p.Phe305Ser	coding	Pathogenic/Likely_pathogenic
1	241504247	T	C	T241504247C	FH	NM_000143.4(FH):c.905-2A>G	noncoding	Pathogenic
1	241505949	C	T	C241505949T	FH	NM_000143.4(FH):c.904+54G>A	noncoding	Benign
1	241506002	C	T	C241506002T	FH	NM_000143.4(FH):c.904+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	241506084	C	A	C241506084A	FH	NM_000143.4(FH):c.823G>T:p.Gly275Ter	coding	Pathogenic
1	241506084	C	T	C241506084T	FH	NM_000143.4(FH):c.823G>A:p.Gly275Arg	coding	Pathogenic
1	241506126	T	A	T241506126A	FH	NM_000143.4(FH):c.781A>T:p.Arg261Ter	coding	Pathogenic
1	241506170	T	C	T241506170C	FH	NM_000143.4(FH):c.739-2A>G	noncoding	Pathogenic/Likely_pathogenic
1	241506170	T	G	T241506170G	FH	NM_000143.4(FH):c.739-2A>C	noncoding	Pathogenic
1	241508600	T	C	T241508600C	FH	NM_000143.4(FH):c.738+3A>G	noncoding	Pathogenic
1	241508603	C	T	C241508603T	FH	NM_000143.4(FH):c.738G>A:p.Gln246_Glu247=	coding	Pathogenic
1	241508638	G	A	G241508638A	FH	NM_000143.4(FH):c.703C>T:p.His235Tyr	coding	Pathogenic/Likely_pathogenic
1	241508653	T	C	T241508653C	FH	NM_000143.4(FH):c.688A>G:p.Lys230Glu	coding	Pathogenic
1	241508653	T	G	T241508653G	FH	NM_000143.4(FH):c.688A>C:p.Lys230Gln	coding	Pathogenic
1	241508674	T	A	T241508674A	FH	NM_000143.4(FH):c.667A>T:p.Lys223Ter	coding	Pathogenic
1	241508688	A	G	A241508688G	FH	NM_000143.4(FH):c.653T>C:p.Leu218Pro	coding	Pathogenic
1	241508766	G	A	G241508766A	FH	NM_000143.4(FH):c.575C>T:p.Pro192Leu	coding	Pathogenic/Likely_pathogenic
1	241511819	G	C	G241511819C	FH	NM_000143.4(FH):c.555+148C>G	noncoding	Benign
1	241511968	T	C	T241511968C	FH	NM_000143.4(FH):c.554A>G:p.Gln185Arg	coding	Pathogenic/Likely_pathogenic
1	241511969	G	A	G241511969A	FH	NM_000143.4(FH):c.553C>T:p.Gln185Ter	coding	Pathogenic
1	241512049	C	A	C241512049A	FH	NM_000143.4(FH):c.473G>T:p.Ser158Ile	coding	Pathogenic
1	241512091	C	G	C241512091G	FH	NM_000143.4(FH):c.431G>C:p.Gly144Ala	coding	Pathogenic
1	241512097	T	C	T241512097C	FH	NM_000143.4(FH):c.425A>G:p.Gln142Arg	coding	Pathogenic
1	241512100	C	T	C241512100T	FH	NM_000143.4(FH):c.422G>A:p.Trp141Ter	coding	Pathogenic
1	241512137	C	A	C241512137A	FH	NM_000143.4(FH):c.385G>T:p.Glu129Ter	coding	Pathogenic
1	241513458	C	T	C241513458T	FH	NM_000143.4(FH):c.378+145G>A	noncoding	Benign
1	241513602	C	T	C241513602T	FH	NM_000143.4(FH):c.378+1G>A	noncoding	Pathogenic/Likely_pathogenic
1	241513675	C	T	C241513675T	FH	NM_000143.4(FH):c.306G>A:p.Ala102=	coding	Benign/Likely_benign
1	241513679	C	G	C241513679G	FH	NM_000143.4(FH):c.302G>C:p.Arg101Pro	coding	Pathogenic/Likely_pathogenic
1	241513683	T	A	T241513683A	FH	NM_000143.4(FH):c.298A>T:p.Lys100Ter	coding	Pathogenic
1	241513711	G	A	G241513711A	FH	NM_000143.4(FH):c.270C>T:p.Thr90=	coding	Benign/Likely_benign
1	241513735	T	A	T241513735A	FH	NM_000143.4(FH):c.268-22A>T	noncoding	Benign
1	241517228	C	T	C241517228T	FH	NM_000143.4(FH):c.221G>A:p.Arg74Lys	coding	Pathogenic
1	241517229	T	A	T241517229A	FH	NM_000143.4(FH):c.220A>T:p.Arg74Ter	coding	Pathogenic
1	241517297	C	T	C241517297T	FH	NM_000143.4(FH):c.152G>A:p.Arg51Gln	coding	Pathogenic/Likely_pathogenic
1	243256404	T	C	T243256404C	SDCCAG8	NM_006642.5(SDCCAG8):c.67+164T>C	noncoding	Benign
1	243270130	A	G	A243270130G	SDCCAG8	NM_006642.5(SDCCAG8):c.93A>G:p.Gln31=	coding	Benign/Likely_benign
1	243270236	G	T	G243270236T	SDCCAG8	NM_006642.5(SDCCAG8):c.199G>T:p.Glu67Ter	coding	Pathogenic
1	243270352	A	G	A243270352G	SDCCAG8	NM_006642.5(SDCCAG8):c.220+95A>G	noncoding	Benign
1	243271007	C	T	C243271007T	SDCCAG8	NM_006642.5(SDCCAG8):c.250C>T:p.Gln84Ter	coding	Pathogenic
1	243286579	G	A	G243286579A	SDCCAG8	NM_006642.5(SDCCAG8):c.546+182G>A	noncoding	Benign
1	243304620	A	C	A243304620C	SDCCAG8	NM_006642.5(SDCCAG8):c.676-93A>C	noncoding	Benign
1	243304870	A	T	A243304870T	SDCCAG8	NM_006642.5(SDCCAG8):c.740+93A>T	noncoding	Benign
1	243307890	A	G	A243307890G	SDCCAG8	NM_006642.5(SDCCAG8):c.741-99A>G	noncoding	Benign
1	243308032	G	T	G243308032T	SDCCAG8	NM_006642.5(SDCCAG8):c.784G>T:p.Glu262Ter	coding	Pathogenic
1	243308195	C	T	C243308195T	SDCCAG8	NM_006642.5(SDCCAG8):c.929+18C>T	noncoding	Benign
1	243330360	T	C	T243330360C	SDCCAG8	NM_006642.5(SDCCAG8):c.1069-180T>C	noncoding	Benign
1	243330591	C	T	C243330591T	SDCCAG8	NM_006642.5(SDCCAG8):c.1120C>T:p.Arg374Ter	coding	Pathogenic/Likely_pathogenic
1	243330618	C	T	C243330618T	SDCCAG8	NM_006642.5(SDCCAG8):c.1147C>T:p.Gln383Ter	coding	Pathogenic
1	243340806	A	G	A243340806G	SDCCAG8	NM_006642.5(SDCCAG8):c.1222-233A>G	noncoding	Benign
1	243415510	G	A	G243415510A	SDCCAG8	NM_006642.5(SDCCAG8):c.1617-192G>A	noncoding	Benign
1	243417773	T	C	T243417773C	SDCCAG8	NM_006642.5(SDCCAG8):c.1745-195T>C	noncoding	Benign
1	243426211	G	A	G243426211A	SDCCAG8	NM_006642.5(SDCCAG8):c.1854-216G>A	noncoding	Benign
1	243499471	T	C	T243499471C	AKT3	NM_006642.5(SDCCAG8):c.2113-285T>C	noncoding	Benign
1	243505291	C	T	C243505291T	AKT3	NM_005465.7(AKT3):c.1398G>A:p.Pro466=	coding	Benign
1	243524611	T	G	T243524611G	AKT3	NM_005465.7(AKT3):c.1252-12185A>C	noncoding	Benign
1	243545769	G	A	G243545769A	AKT3	NM_005465.7(AKT3):c.1164-172C>T	noncoding	Benign
1	243552713	G	A	G243552713A	AKT3	NM_005465.7(AKT3):c.1163+16C>T	noncoding	Benign
1	243552929	A	C	A243552929C	AKT3	NM_005465.7(AKT3):c.963T>G:p.Asn321Lys	coding	Pathogenic
1	243564314	C	G	C243564314G	AKT3	NM_005465.7(AKT3):c.820-466G>C	noncoding	Benign
1	243572924	A	T	A243572924T	AKT3	NM_005465.7(AKT3):c.819+2T>A	noncoding	Benign/Likely_benign
1	243572938	G	A	G243572938A	AKT3	NM_005465.7(AKT3):c.807C>T:p.Tyr269=	coding	Benign
1	243614937	C	A	C243614937A	AKT3	NM_005465.7(AKT3):c.627+159G>T	noncoding	Benign
1	243637634	T	C	T243637634C	AKT3	NM_005465.7(AKT3):c.538A>G:p.Lys180Glu	coding	Pathogenic
1	243637883	T	C	T243637883C	AKT3	NM_005465.7(AKT3):c.430-141A>G	noncoding	Benign
1	243637888	T	C	T243637888C	AKT3	NM_005465.7(AKT3):c.430-146A>G	noncoding	Benign
1	243637981	G	C	G243637981C	AKT3	NM_005465.7(AKT3):c.430-239C>G	noncoding	Benign
1	243646050	G	A	G243646050A	AKT3	NM_005465.7(AKT3):c.285-13C>T	noncoding	Benign
1	243665004	T	A	T243665004A	AKT3	NM_005465.7(AKT3):c.173-121A>T	noncoding	Benign
1	243843113	C	T	C243843113T	AKT3	NM_005465.7(AKT3):c.46+12G>A	noncoding	Benign
1	244054353	G	A	G244054353A	ZBTB18	NM_205768.3(ZBTB18):c.579G>A:p.Trp193Ter	coding	Pathogenic
1	244055100	G	A	G244055100A	ZBTB18	NM_205768.3(ZBTB18):c.1326G>A:p.Ser442=	coding	Benign
1	244055152	C	T	C244055152T	ZBTB18	NM_205768.3(ZBTB18):c.1378C>T:p.His460Tyr	coding	Pathogenic/Likely_pathogenic
1	244055180	A	G	A244055180G	ZBTB18	NM_205768.3(ZBTB18):c.1406A>G:p.His469Arg	coding	Pathogenic/Likely_pathogenic
1	244055230	C	T	C244055230T	ZBTB18	NM_205768.3(ZBTB18):c.1456C>T:p.Gln486Ter	coding	Pathogenic
1	244835450	C	T	C244835450T	COX20	NM_198076.5(COX20):c.-265C>T	noncoding	Benign
1	244841999	C	T	C244841999T	COX20	NM_198076.6(COX20):c.98C>T:p.Ser33Leu	coding	Pathogenic
1	244842065	A	G	A244842065G	COX20	NM_198076.6(COX20):c.157+7A>G	noncoding	Pathogenic
1	244842075	T	C	T244842075C	COX20	NM_198076.6(COX20):c.157+17T>C	noncoding	Benign
1	244843041	G	T	G244843041T	COX20	NM_198076.6(COX20):c.222G>T:p.Trp74Cys	coding	Pathogenic
1	244843078	C	T	C244843078T	COX20	NM_198076.6(COX20):c.259C>T:p.Gln87Ter	coding	Pathogenic
1	244854957	A	G	A244854957G	HNRNPU	NM_031844.3(HNRNPU):c.2424+16T>C	noncoding	Benign
1	244855322	C	A	C244855322A	HNRNPU	NM_031844.3(HNRNPU):c.2352+102G>T	noncoding	Benign
1	244855410	T	A	T244855410A	HNRNPU	NM_031844.3(HNRNPU):c.2352+14A>T	noncoding	Benign
1	244855572	T	C	T244855572C	HNRNPU	NM_031844.3(HNRNPU):c.2204A>G:p.Asn735Ser	coding	Benign
1	244855583	A	G	A244855583G	HNRNPU	NM_031844.3(HNRNPU):c.2193T>C:p.Asn731=	coding	Benign/Likely_benign
1	244855609	C	A	C244855609A	HNRNPU	NM_031844.3(HNRNPU):c.2168-1G>T	coding	Pathogenic
1	244855614	A	T	A244855614T	HNRNPU	NM_031844.3(HNRNPU):c.2168-6T>A	noncoding	Benign
1	244855865	G	T	G244855865T	HNRNPU	NM_031844.3(HNRNPU):c.2167+39C>A	noncoding	Benign
1	244855889	T	G	T244855889G	HNRNPU	NM_031844.3(HNRNPU):c.2167+15A>C	noncoding	Benign
1	244857065	G	A	G244857065A	HNRNPU	NM_031844.3(HNRNPU):c.1615-209C>T	noncoding	Benign
1	244857830	C	G	C244857830G	HNRNPU	NM_031844.3(HNRNPU):c.1495-113G>C	noncoding	Benign
1	244858045	C	G	C244858045G	HNRNPU	NM_031844.3(HNRNPU):c.1460G>C:p.Gly487Ala	coding	Benign
1	244858474	A	T	A244858474T	HNRNPU	NM_031844.3(HNRNPU):c.1231-200T>A	noncoding	Benign
1	244858724	C	T	C244858724T	HNRNPU	NM_031844.3(HNRNPU):c.1230+5G>A	noncoding	Pathogenic
1	244858728	C	G	C244858728G	HNRNPU	NM_031844.3(HNRNPU):c.1230+1G>C	noncoding	Pathogenic
1	244858751	T	G	T244858751G	HNRNPU	NM_031844.3(HNRNPU):c.1208A>C:p.Asn403Thr	coding	Benign/Likely_benign
1	244858871	G	T	G244858871T	HNRNPU	NM_031844.3(HNRNPU):c.1118-30C>A	noncoding	Benign
1	244859122	C	T	C244859122T	HNRNPU	NM_031844.3(HNRNPU):c.1117+153G>A	noncoding	Benign
1	244859251	A	C	A244859251C	HNRNPU	NM_031844.3(HNRNPU):c.1117+24T>G	noncoding	Benign
1	244862390	A	T	A244862390T	HNRNPU	NM_031844.3(HNRNPU):c.877+71T>A	noncoding	Benign
1	244862391	C	T	C244862391T	HNRNPU	NM_031844.3(HNRNPU):c.877+70G>A	noncoding	Benign
1	244862521	G	A	G244862521A	HNRNPU	NM_031844.3(HNRNPU):c.817C>T:p.Gln273Ter	coding	Pathogenic
1	244862608	G	A	G244862608A	HNRNPU	NM_031844.3(HNRNPU):c.803+11C>T	noncoding	Benign
1	244862744	G	A	G244862744A	HNRNPU	NM_031844.3(HNRNPU):c.692-14C>T	noncoding	Benign
1	244863418	A	G	A244863418G	HNRNPU	NM_031844.3(HNRNPU):c.691+199T>C	noncoding	Benign
1	244863420	A	G	A244863420G	HNRNPU	NM_031844.3(HNRNPU):c.691+197T>C	noncoding	Benign
1	244863802	T	C	T244863802C	HNRNPU	NM_031844.3(HNRNPU):c.506A>G:p.Gln169Arg	coding	Benign
1	244863867	G	C	G244863867C	HNRNPU	NM_031844.3(HNRNPU):c.441C>G:p.Asp147Glu	coding	Benign
1	244863983	C	A	C244863983A	HNRNPU	NM_031844.3(HNRNPU):c.325G>T:p.Glu109Ter	coding	Pathogenic
1	244864085	C	A	C244864085A	HNRNPU	NM_031844.3(HNRNPU):c.223G>T:p.Glu75Ter	coding	Pathogenic
1	244864151	T	C	T244864151C	HNRNPU	NM_031844.3(HNRNPU):c.157A>G:p.Met53Val	coding	Benign/Likely_benign
1	244864196	G	T	G244864196T	HNRNPU	NM_031844.3(HNRNPU):c.112C>A:p.Leu38Ile	coding	Pathogenic
1	244864348	C	T	C244864348T	HNRNPU	NM_031844.3(HNRNPU):c.-41G>A	noncoding	Benign
1	244864715	T	G	T244864715G	HNRNPU	Single_allele	noncoding	Benign
1	245698269	C	T	C245698269T	KIF26B	NM_018012.4(KIF26B):c.5988C>T:p.Asp1996=	coding	Benign
1	247418722	C	T	C247418722T	NLRP3	NM_001243133.2(NLRP3):c.-79C>T	noncoding	Benign
1	247418829	G	T	G247418829T	NLRP3	NM_001243133.2(NLRP3):c.29G>T:p.Arg10Met	coding	Pathogenic
1	247419166	T	A	T247419166A	NLRP3	NM_001243133.2(NLRP3):c.277+89T>A	noncoding	Benign
1	247423798	C	T	C247423798T	NLRP3	NM_001243133.2(NLRP3):c.398-49C>T	noncoding	Benign
1	247424013	C	T	C247424013T	NLRP3	NM_001243133.2(NLRP3):c.564C>T:p.Ile188=	coding	Benign/Likely_benign
1	247424259	G	A	G247424259A	NLRP3	NM_001243133.2(NLRP3):c.810G>A:p.Leu270=	coding	Benign
1	247424351	G	A	G247424351A	NLRP3	NM_001243133.2(NLRP3):c.902G>A:p.Gly301Asp	coding	Pathogenic/Likely_pathogenic
1	247424363	T	C	T247424363C	NLRP3	NM_001243133.2(NLRP3):c.914T>C:p.Leu305Pro	coding	Pathogenic/Likely_pathogenic
1	247424380	G	A	G247424380A	NLRP3	NM_001243133.2(NLRP3):c.931G>A:p.Glu311Lys	coding	Pathogenic
1	247424649	C	T	C247424649T	NLRP3	NM_001243133.2(NLRP3):c.1200C>T:p.Asn400=	coding	Benign/Likely_benign
1	247424662	A	C	A247424662C	NLRP3	NM_001243133.2(NLRP3):c.1213A>C:p.Thr405Pro	coding	Pathogenic/Likely_pathogenic
1	247424764	G	A	G247424764A	NLRP3	NM_001243133.2(NLRP3):c.1315G>A:p.Ala439Thr	coding	Pathogenic
1	247424811	G	C	G247424811C	NLRP3	NM_001243133.2(NLRP3):c.1362G>C:p.Gly454=	coding	Benign/Likely_benign
1	247425003	C	T	C247425003T	NLRP3	NM_001243133.2(NLRP3):c.1554C>T:p.Phe518=	coding	Benign
1	247425017	T	G	T247425017G	NLRP3	NM_001243133.2(NLRP3):c.1568T>G:p.Phe523Cys	coding	Pathogenic
1	247425072	G	A	G247425072A	NLRP3	NM_001243133.2(NLRP3):c.1623G>A:p.Arg541=	coding	Benign
1	247425114	C	T	C247425114T	NLRP3	NM_001243133.2(NLRP3):c.1665C>T:p.Asp555=	coding	Benign/Likely_benign
1	247425615	T	C	T247425615C	NLRP3	NM_001243133.2(NLRP3):c.2150+16T>C	noncoding	Benign/Likely_benign
1	247425658	G	A	G247425658A	NLRP3	NM_001243133.2(NLRP3):c.2150+59G>A	noncoding	Benign
1	247425676	C	G	C247425676G	NLRP3	NM_001243133.2(NLRP3):c.2150+77C>G	noncoding	Benign
1	247425697	A	G	A247425697G	NLRP3	NM_001243133.2(NLRP3):c.2150+98A>G	noncoding	Benign
1	247429580	C	G	C247429580G	NLRP3	NM_001243133.2(NLRP3):c.2151-5C>G	noncoding	Benign
1	247429735	C	G	C247429735G	NLRP3	NM_001243133.2(NLRP3):c.2301C>G:p.Gly767=	coding	Benign/Likely_benign
1	247429840	A	G	A247429840G	NLRP3	NM_001243133.2(NLRP3):c.2321+85A>G	noncoding	Benign
1	247434327	C	T	C247434327T	NLRP3	NM_001243133.2(NLRP3):c.2492+54C>T	noncoding	Benign
1	247435768	T	C	T247435768C	NLRP3	NM_001243133.2(NLRP3):c.2493-202T>C	noncoding	Benign
1	247435926	C	T	C247435926T	NLRP3	NM_001243133.2(NLRP3):c.2493-44C>T	noncoding	Benign
1	247435930	G	A	G247435930A	NLRP3	NM_001243133.2(NLRP3):c.2493-40G>A	noncoding	Benign
1	247444017	C	G	C247444017G	NLRP3	NM_001243133.2(NLRP3):c.2709C>G:p.Ser903=	coding	Benign/Likely_benign
1	247444154	G	C	G247444154C	NLRP3	NM_001243133.2(NLRP3):c.2834+12G>C	noncoding	Benign
1	247444179	T	C	T247444179C	NLRP3	NM_001243133.2(NLRP3):c.2834+37T>C	noncoding	Benign
1	247444678	C	T	C247444678T	NLRP3	NM_001243133.2(NLRP3):c.2862C>T:p.His954=	coding	Benign
1	247444828	G	A	G247444828A	NLRP3	NM_001243133.2(NLRP3):c.3005+7G>A	noncoding	Benign/Likely_benign
1	247444865	C	A	C247444865A	NLRP3	NM_001243133.2(NLRP3):c.3005+44C>A	noncoding	Benign
1	247448505	G	T	G247448505T	NLRP3	NM_001243133.2(NLRP3):c.*1G>T	coding	Benign
1	247895625	C	T	C247895625T	OR2W3	NM_001001957.2(OR2W3):c.39C>T:p.Ile13=	coding	Benign
1	247895626	C	T	C247895626T	OR2W3	NM_001001957.2(OR2W3):c.40C>T:p.Leu14=	coding	Benign
1	247895681	T	G	T247895681G	OR2W3	NM_001001957.2(OR2W3):c.95T>G:p.Leu32Arg	coding	Benign
1	247895743	C	A	C247895743A	OR2W3	NM_001001957.2(OR2W3):c.157C>A:p.Pro53Thr	coding	Benign
1	247895849	G	A	G247895849A	OR2W3	NM_001001957.2(OR2W3):c.263G>A:p.Cys88Tyr	coding	Benign
1	247895950	C	T	C247895950T	OR2W3	NM_001001957.2(OR2W3):c.364C>T:p.Arg122Trp	coding	Benign
1	247895951	G	A	G247895951A	OR2W3	NM_001001957.2(OR2W3):c.365G>A:p.Arg122Gln	coding	Benign
1	247896092	G	C	G247896092C	OR2W3	NM_001001957.2(OR2W3):c.506G>C:p.Cys169Ser	coding	Benign
1	247896121	C	T	C247896121T	OR2W3	NM_001001957.2(OR2W3):c.535C>T:p.Arg179Cys	coding	Benign
1	247896132	C	T	C247896132T	OR2W3	NM_001001957.2(OR2W3):c.546C>T:p.Pro182=	coding	Benign
1	247896154	G	A	G247896154A	OR2W3	NM_001001957.2(OR2W3):c.568G>A:p.Val190Ile	coding	Benign
1	247896174	A	C	A247896174C	OR2W3	NM_001001957.2(OR2W3):c.588A>C:p.Glu196Asp	coding	Benign
1	247896181	G	A	G247896181A	OR2W3	NM_001001957.2(OR2W3):c.595G>A:p.Val199Ile	coding	Benign
1	247896300	C	T	C247896300T	OR2W3	NM_001001957.2(OR2W3):c.714C>T:p.Phe238=	coding	Benign
1	247896401	T	A	T247896401A	OR2W3	NM_001001957.2(OR2W3):c.815T>A:p.Met272Lys	coding	Benign
1	247896410	T	C	T247896410C	OR2W3	NM_001001957.2(OR2W3):c.824T>C:p.Met275Thr	coding	Benign
1	247896502	C	T	C247896502T	OR2W3	NM_001001957.2(OR2W3):c.916C>T:p.Leu306=	coding	Benign
2	45695	C	G	C45695G	FAM110C	NM_001077710.3(FAM110C):c.691G>C:p.Ala231Pro	coding	Pathogenic
2	45696	C	G	C45696G	FAM110C	NM_001077710.3(FAM110C):c.690G>C:p.Glu230Asp	coding	Pathogenic
2	1422849	A	G	A1422849G	TPO	NM_001206744.2(TPO):c.95-196A>G	noncoding	Benign
2	1423015	G	A	G1423015A	TPO	NM_001206744.2(TPO):c.95-30G>A	noncoding	Benign
2	1423335	G	A	G1423335A	TPO	NM_001206744.2(TPO):c.179+206G>A	noncoding	Benign
2	1433391	A	C	A1433391C	TPO	NM_001206744.2(TPO):c.180-47A>C	noncoding	Benign
2	1433472	C	T	C1433472T	TPO	NM_001206744.2(TPO):c.214C>T:p.Gln72Ter	coding	Pathogenic
2	1433523	C	T	C1433523T	TPO	NM_001206744.2(TPO):c.265C>T:p.Arg89Ter	coding	Pathogenic
2	1433638	C	T	C1433638T	TPO	NM_001206744.2(TPO):c.349+31C>T	noncoding	Benign
2	1436527	A	G	A1436527G	TPO	NM_001206744.2(TPO):c.482+143A>G	noncoding	Benign
2	1453592	A	G	A1453592G	TPO	NM_001206744.2(TPO):c.483-102A>G	noncoding	Benign
2	1456034	A	G	A1456034G	TPO	NM_001206744.2(TPO):c.613-42A>G	noncoding	Benign
2	1456368	A	G	A1456368G	TPO	NM_001206744.2(TPO):c.819+86A>G	noncoding	Benign
2	1456508	G	T	G1456508T	TPO	NM_001206744.2(TPO):c.819+226G>T	noncoding	Benign
2	1476904	G	C	G1476904C	TPO	NM_001206744.2(TPO):c.820-182G>C	noncoding	Benign
2	1477132	T	C	T1477132C	TPO	NM_001206744.2(TPO):c.866T>C:p.Phe289Ser	coding	Pathogenic
2	1477720	C	T	C1477720T	TPO	NM_001206744.2(TPO):c.1338+116C>T	noncoding	Benign
2	1484734	G	A	G1484734A	TPO	NM_001206744.2(TPO):c.1477G>A:p.Gly493Ser	coding	Pathogenic
2	1484896	T	C	T1484896C	TPO	NM_001206744.2(TPO):c.1597+42T>C	noncoding	Benign
2	1488297	A	G	A1488297G	TPO	NM_001206744.2(TPO):c.1768+306A>G	noncoding	Benign
2	1493525	T	C	T1493525C	TPO	NM_001206744.2(TPO):c.1769-277T>C	noncoding	Benign
2	1493670	A	G	A1493670G	TPO	NM_001206744.2(TPO):c.1769-132A>G	noncoding	Benign
2	1493819	G	T	G1493819T	TPO	NM_001206744.2(TPO):c.1786G>T:p.Glu596Ter	coding	Pathogenic
2	1494363	T	C	T1494363C	TPO	NM_001206744.2(TPO):c.2006+324T>C	noncoding	Benign
2	1495956	C	T	C1495956T	TPO	NM_001206744.2(TPO):c.2007-33C>T	noncoding	Benign
2	1496893	C	T	C1496893T	TPO	NM_001206744.2(TPO):c.2386+128C>T	noncoding	Benign
2	1516942	G	A	G1516942A	TPO	NM_001206744.2(TPO):c.2578G>A:p.Gly860Arg	coding	Pathogenic
2	1540375	A	T	A1540375T	TPO	NM_001206744.2(TPO):c.2619-219A>T	noncoding	Benign
2	1540845	G	A	G1540845A	TPO	NM_001206744.2(TPO):c.2748+122G>A	noncoding	Benign
2	1633876	T	C	T1633876C	PXDN	NM_012293.3(PXDN):c.*328A>G	noncoding	Benign
2	1634339	G	A	G1634339A	PXDN	NM_012293.3(PXDN):c.4321-16C>T	noncoding	Benign/Likely_benign
2	1634446	G	C	G1634446C	PXDN	NM_012293.3(PXDN):c.4321-123C>G	noncoding	Benign
2	1635154	T	C	T1635154C	PXDN	NM_012293.3(PXDN):c.4320+254A>G	noncoding	Benign
2	1635241	C	T	C1635241T	PXDN	NM_012293.3(PXDN):c.4320+167G>A	noncoding	Benign
2	1635288	A	G	A1635288G	PXDN	NM_012293.3(PXDN):c.4320+120T>C	noncoding	Benign
2	1635350	T	C	T1635350C	PXDN	NM_012293.3(PXDN):c.4320+58A>G	noncoding	Benign
2	1638597	A	C	A1638597C	PXDN	NM_012293.3(PXDN):c.4206+249T>G	noncoding	Benign
2	1638681	T	C	T1638681C	PXDN	NM_012293.3(PXDN):c.4206+165A>G	noncoding	Benign
2	1638765	T	C	T1638765C	PXDN	NM_012293.3(PXDN):c.4206+81A>G	noncoding	Benign
2	1638767	C	T	C1638767T	PXDN	NM_012293.3(PXDN):c.4206+79G>A	noncoding	Benign
2	1638772	C	T	C1638772T	PXDN	NM_012293.3(PXDN):c.4206+74G>A	noncoding	Benign
2	1638773	C	G	C1638773G	PXDN	NM_012293.3(PXDN):c.4206+73G>C	noncoding	Benign
2	1638776	G	A	G1638776A	PXDN	NM_012293.3(PXDN):c.4206+70C>T	noncoding	Benign
2	1639018	T	C	T1639018C	PXDN	NM_012293.3(PXDN):c.4074-40A>G	noncoding	Benign
2	1639684	T	C	T1639684C	PXDN	NM_012293.3(PXDN):c.3953-262A>G	noncoding	Benign
2	1645009	G	C	G1645009C	PXDN	NM_012293.3(PXDN):c.3609-257C>G	noncoding	Benign
2	1645060	A	G	A1645060G	PXDN	NM_012293.3(PXDN):c.3609-308T>C	noncoding	Benign
2	1645063	C	T	C1645063T	PXDN	NM_012293.3(PXDN):c.3609-311G>A	noncoding	Benign
2	1648070	C	A	C1648070A	PXDN	NM_012293.3(PXDN):c.3608+102G>T	noncoding	Benign
2	1648956	G	A	G1648956A	PXDN	NM_012293.3(PXDN):c.2824C>T:p.Gln942Ter	coding	Pathogenic
2	1649629	G	A	G1649629A	PXDN	NM_012293.3(PXDN):c.2151C>T:p.Ile717=	coding	Benign/Likely_benign
2	1653807	G	A	G1653807A	PXDN	NM_012293.3(PXDN):c.1947-22C>T	noncoding	Benign
2	1654072	G	A	G1654072A	PXDN	NM_012293.3(PXDN):c.1947-287C>T	noncoding	Benign
2	1654778	C	T	C1654778T	PXDN	NM_012293.3(PXDN):c.1838-270G>A	noncoding	Benign
2	1660720	C	T	C1660720T	PXDN	NM_012293.3(PXDN):c.1837+161G>A	noncoding	Benign
2	1660736	G	C	G1660736C	PXDN	NM_012293.3(PXDN):c.1837+145C>G	noncoding	Benign
2	1662053	C	T	C1662053T	PXDN	NM_012293.3(PXDN):c.1680+19G>A	noncoding	Benign
2	1663495	C	G	C1663495G	PXDN	NM_012293.3(PXDN):c.1567+110G>C	noncoding	Benign
2	1663538	G	A	G1663538A	PXDN	NM_012293.3(PXDN):c.1567+67C>T	noncoding	Benign
2	1663762	C	T	C1663762T	PXDN	NM_012293.3(PXDN):c.1410G>A:p.Gly470=	coding	Benign
2	1664014	G	C	G1664014C	PXDN	NM_012293.3(PXDN):c.1409-251C>G	noncoding	Benign
2	1664779	A	G	A1664779G	PXDN	NM_012293.3(PXDN):c.1408+179T>C	noncoding	Benign
2	1664794	A	G	A1664794G	PXDN	NM_012293.3(PXDN):c.1408+164T>C	noncoding	Benign
2	1665347	A	C	A1665347C	PXDN	NM_012293.3(PXDN):c.1292-273T>G	noncoding	Benign
2	1673337	G	T	G1673337T	PXDN	NM_012293.3(PXDN):c.1018+306C>A	noncoding	Benign
2	1673425	T	C	T1673425C	PXDN	NM_012293.3(PXDN):c.1018+218A>G	noncoding	Benign
2	1673494	A	C	A1673494C	PXDN	NM_012293.3(PXDN):c.1018+149T>G	noncoding	Benign
2	1673994	G	A	G1673994A	PXDN	NM_012293.3(PXDN):c.849-182C>T	noncoding	Benign
2	1676726	G	A	G1676726A	PXDN	NM_012293.3(PXDN):c.848+201C>T	noncoding	Benign
2	1683494	T	A	T1683494A	PXDN	NM_012293.3(PXDN):c.560+162A>T	noncoding	Benign
2	1683685	T	C	T1683685C	PXDN	NM_012293.3(PXDN):c.531A>G:p.Thr177=	coding	Benign
2	1684293	C	A	C1684293A	PXDN	NM_012293.3(PXDN):c.417-142G>T	noncoding	Benign
2	1684319	A	C	A1684319C	PXDN	NM_012293.3(PXDN):c.417-168T>G	noncoding	Benign
2	1692244	G	A	G1692244A	PXDN	NM_012293.3(PXDN):c.273-245C>T	noncoding	Benign
2	1743961	A	C	A1743961C	PXDN	NM_012293.3(PXDN):c.200+295T>G	noncoding	Benign
2	1744025	T	G	T1744025G	PXDN	NM_012293.3(PXDN):c.200+231A>C	noncoding	Benign
2	1744054	A	G	A1744054G	PXDN	NM_012293.3(PXDN):c.200+202T>C	noncoding	Benign
2	1744112	C	G	C1744112G	PXDN	NM_012293.3(PXDN):c.200+144G>C	noncoding	Benign
2	1744125	A	G	A1744125G	PXDN	NM_012293.3(PXDN):c.200+131T>C	noncoding	Benign
2	1744221	G	A	G1744221A	PXDN	NM_012293.3(PXDN):c.200+35C>T	noncoding	Benign
2	1744291	C	T	C1744291T	PXDN	NM_012293.3(PXDN):c.165G>A:p.Glu55=	coding	Benign/Likely_benign
2	1744345	C	G	C1744345G	PXDN	NM_012293.3(PXDN):c.111G>C:p.Pro37=	coding	Benign/Likely_benign
2	1744657	T	C	T1744657C	PXDN	Single_allele	noncoding	Benign
2	1744691	G	A	G1744691A	PXDN	Single_allele	noncoding	Benign
2	1801657	C	T	C1801657T	MYT1L	NM_001303052.2(MYT1L):c.3276+39G>A	noncoding	Benign
2	1801658	G	A	G1801658A	MYT1L	NM_001303052.2(MYT1L):c.3276+38C>T	noncoding	Benign
2	1801717	A	G	A1801717G	MYT1L	NM_001303052.2(MYT1L):c.3255T>C:p.Asp1085=	coding	Benign
2	1801976	C	T	C1801976T	MYT1L	NM_001303052.2(MYT1L):c.3173-177G>A	noncoding	Benign
2	1802001	T	C	T1802001C	MYT1L	NM_001303052.2(MYT1L):c.3173-202A>G	noncoding	Benign
2	1802122	T	G	T1802122G	MYT1L	NM_001303052.2(MYT1L):c.3173-323A>C	noncoding	Benign
2	1809020	C	T	C1809020T	MYT1L	NM_001303052.2(MYT1L):c.3172+56G>A	noncoding	Benign
2	1809285	G	T	G1809285T	MYT1L	NM_001303052.2(MYT1L):c.3081-118C>A	noncoding	Benign
2	1839002	T	C	T1839002C	MYT1L	NM_001303052.2(MYT1L):c.3080+147A>G	noncoding	Benign
2	1839015	C	T	C1839015T	MYT1L	NM_001303052.2(MYT1L):c.3080+134G>A	noncoding	Benign
2	1839104	C	G	C1839104G	MYT1L	NM_001303052.2(MYT1L):c.3080+45G>C	noncoding	Benign
2	1839137	G	T	G1839137T	MYT1L	NM_001303052.2(MYT1L):c.3080+12C>A	noncoding	Benign/Likely_benign
2	1839190	G	A	G1839190A	MYT1L	NM_001303052.2(MYT1L):c.3039C>T:p.Asp1013=	coding	Benign
2	1839196	T	A	T1839196A	MYT1L	NM_001303052.2(MYT1L):c.3033A>T:p.Gly1011=	coding	Benign
2	1839196	T	C	T1839196C	MYT1L	NM_001303052.2(MYT1L):c.3033A>G:p.Gly1011=	coding	Benign
2	1839233	G	T	G1839233T	MYT1L	NM_001303052.2(MYT1L):c.2996C>A:p.Ser999Ter	coding	Pathogenic
2	1839358	G	A	G1839358A	MYT1L	NM_001303052.2(MYT1L):c.2871C>T:p.Pro957=	coding	Benign
2	1839413	G	A	G1839413A	MYT1L	NM_001303052.2(MYT1L):c.2859-43C>T	noncoding	Benign
2	1839513	A	G	A1839513G	MYT1L	NM_001303052.2(MYT1L):c.2859-143T>C	noncoding	Benign
2	1839673	A	T	A1839673T	MYT1L	NM_001303052.2(MYT1L):c.2859-303T>A	noncoding	Benign
2	1840686	T	C	T1840686C	MYT1L	NM_001303052.2(MYT1L):c.2858+74A>G	noncoding	Benign
2	1840880	C	T	C1840880T	MYT1L	NM_001303052.2(MYT1L):c.2775-37G>A	noncoding	Benign
2	1840900	C	T	C1840900T	MYT1L	NM_001303052.2(MYT1L):c.2775-57G>A	noncoding	Benign
2	1851346	T	C	T1851346C	MYT1L	NM_001303052.2(MYT1L):c.2774+295A>G	noncoding	Benign
2	1851664	G	A	G1851664A	MYT1L	NM_001303052.2(MYT1L):c.2751C>T:p.Thr917=	coding	Benign
2	1851795	C	A	C1851795A	MYT1L	NM_001303052.2(MYT1L):c.2712-92G>T	noncoding	Benign
2	1851894	C	T	C1851894T	MYT1L	NM_001303052.2(MYT1L):c.2712-191G>A	noncoding	Benign
2	1851904	G	T	G1851904T	MYT1L	NM_001303052.2(MYT1L):c.2712-201C>A	noncoding	Benign
2	1851914	C	A	C1851914A	MYT1L	NM_001303052.2(MYT1L):c.2712-211G>T	noncoding	Benign
2	1851945	A	G	A1851945G	MYT1L	NM_001303052.2(MYT1L):c.2712-242T>C	noncoding	Benign
2	1886298	C	T	C1886298T	MYT1L	NM_001303052.2(MYT1L):c.2711+241G>A	noncoding	Benign
2	1886401	A	G	A1886401G	MYT1L	NM_001303052.2(MYT1L):c.2711+138T>C	noncoding	Benign
2	1886622	G	A	G1886622A	MYT1L	NM_001303052.2(MYT1L):c.2643-15C>T	noncoding	Benign
2	1886643	T	C	T1886643C	MYT1L	NM_001303052.2(MYT1L):c.2643-36A>G	noncoding	Benign
2	1887547	G	C	G1887547C	MYT1L	NM_001303052.2(MYT1L):c.2583C>G:p.Thr861=	coding	Benign
2	1887647	T	A	T1887647A	MYT1L	NM_001303052.2(MYT1L):c.2521-38A>T	noncoding	Benign
2	1889241	A	G	A1889241G	MYT1L	NM_001303052.2(MYT1L):c.2520T>C:p.Thr840=	coding	Benign/Likely_benign
2	1889265	G	A	G1889265A	MYT1L	NM_001303052.2(MYT1L):c.2496C>T:p.Asp832=	coding	Benign
2	1889277	G	A	G1889277A	MYT1L	NM_001303052.2(MYT1L):c.2484C>T:p.Pro828=	coding	Benign
2	1889300	C	T	C1889300T	MYT1L	NM_001303052.2(MYT1L):c.2461G>A:p.Val821Ile	coding	Benign/Likely_benign
2	1889361	C	T	C1889361T	MYT1L	NM_001303052.2(MYT1L):c.2400G>A:p.Gln800=	coding	Benign
2	1889444	G	A	G1889444A	MYT1L	NM_001303052.2(MYT1L):c.2317C>T:p.Leu773=	coding	Benign
2	1889483	G	A	G1889483A	MYT1L	NM_001303052.2(MYT1L):c.2284-6C>T	noncoding	Benign
2	1889520	T	C	T1889520C	MYT1L	NM_001303052.2(MYT1L):c.2284-43A>G	noncoding	Benign
2	1889562	G	C	G1889562C	MYT1L	NM_001303052.2(MYT1L):c.2284-85C>G	noncoding	Benign
2	1889617	A	G	A1889617G	MYT1L	NM_001303052.2(MYT1L):c.2284-140T>C	noncoding	Benign
2	1891999	C	A	C1891999A	MYT1L	NM_001303052.2(MYT1L):c.2283+38G>T	noncoding	Benign
2	1892028	C	A	C1892028A	MYT1L	NM_001303052.2(MYT1L):c.2283+9G>T	noncoding	Benign
2	1892087	C	A	C1892087A	MYT1L	NM_001303052.2(MYT1L):c.2233G>T:p.Glu745Ter	coding	Pathogenic
2	1892259	G	A	G1892259A	MYT1L	NM_001303052.2(MYT1L):c.2061C>T:p.Pro687=	coding	Benign
2	1902975	T	C	T1902975C	MYT1L	NM_001303052.2(MYT1L):c.2032+105A>G	noncoding	Benign
2	1903318	C	A	C1903318A	MYT1L	NM_001303052.2(MYT1L):c.1818-24G>T	noncoding	Benign
2	1903555	C	T	C1903555T	MYT1L	NM_001303052.2(MYT1L):c.1818-261G>A	noncoding	Benign
2	1910225	A	C	A1910225C	MYT1L	NM_001303052.2(MYT1L):c.1817+15T>G	noncoding	Benign/Likely_benign
2	1910483	G	A	G1910483A	MYT1L	NM_001303052.2(MYT1L):c.1710-136C>T	noncoding	Benign
2	1911977	A	G	A1911977G	MYT1L	NM_001303052.2(MYT1L):c.1709+43T>C	noncoding	Benign
2	1912008	C	T	C1912008T	MYT1L	NM_001303052.2(MYT1L):c.1709+12G>A	noncoding	Benign
2	1912023	C	T	C1912023T	MYT1L	NM_001303052.2(MYT1L):c.1706G>A:p.Arg569Gln	coding	Pathogenic/Likely_pathogenic
2	1912070	C	T	C1912070T	MYT1L	NM_001303052.2(MYT1L):c.1659G>A:p.Pro553=	coding	Benign
2	1912236	T	G	T1912236G	MYT1L	NM_001303052.2(MYT1L):c.1619-126A>C	noncoding	Benign
2	1912302	C	T	C1912302T	MYT1L	NM_001303052.2(MYT1L):c.1619-192G>A	noncoding	Benign
2	1916952	C	G	C1916952G	MYT1L	NM_001303052.2(MYT1L):c.1618+253G>C	noncoding	Benign
2	1917108	G	A	G1917108A	MYT1L	NM_001303052.2(MYT1L):c.1618+97C>T	noncoding	Benign
2	1917171	C	A	C1917171A	MYT1L	NM_001303052.2(MYT1L):c.1618+34G>T	noncoding	Benign
2	1917177	C	T	C1917177T	MYT1L	NM_001303052.2(MYT1L):c.1618+28G>A	noncoding	Benign
2	1917187	G	A	G1917187A	MYT1L	NM_001303052.2(MYT1L):c.1618+18C>T	noncoding	Benign
2	1922221	C	T	C1922221T	MYT1L	NM_001303052.2(MYT1L):c.1483+65G>A	noncoding	Benign
2	1922359	C	T	C1922359T	MYT1L	NM_001303052.2(MYT1L):c.1410G>A:p.Pro470=	coding	Benign/Likely_benign
2	1922569	C	T	C1922569T	MYT1L	NM_001303052.2(MYT1L):c.1200G>A:p.Ala400=	coding	Benign
2	1922665	G	T	G1922665T	MYT1L	NM_001303052.2(MYT1L):c.1104C>A:p.Pro368=	coding	Benign
2	1922845	G	A	G1922845A	MYT1L	NM_001303052.2(MYT1L):c.924C>T:p.Asn308=	coding	Benign
2	1922854	G	A	G1922854A	MYT1L	NM_001303052.2(MYT1L):c.915C>T:p.Pro305=	coding	Benign
2	1922952	C	T	C1922952T	MYT1L	NM_001303052.2(MYT1L):c.817G>A:p.Gly273Ser	coding	Benign
2	1923112	G	A	G1923112A	MYT1L	NM_001303052.2(MYT1L):c.657C>T:p.Ala219=	coding	Benign
2	1923178	G	C	G1923178C	MYT1L	NM_001303052.2(MYT1L):c.591C>G:p.Tyr197Ter	coding	Pathogenic
2	1942874	A	C	A1942874C	MYT1L	NM_001303052.2(MYT1L):c.505+108T>G	noncoding	Benign
2	1942941	C	T	C1942941T	MYT1L	NM_001303052.2(MYT1L):c.505+41G>A	noncoding	Benign
2	1942943	A	C	A1942943C	MYT1L	NM_001303052.2(MYT1L):c.505+39T>G	noncoding	Benign
2	1943142	A	G	A1943142G	MYT1L	NM_001303052.2(MYT1L):c.345T>C:p.Asp115=	coding	Benign
2	1943196	C	T	C1943196T	MYT1L	NM_001303052.2(MYT1L):c.291G>A:p.Glu97=	coding	Benign
2	1943228	C	T	C1943228T	MYT1L	NM_001303052.2(MYT1L):c.259G>A:p.Val87Met	coding	Benign
2	1943258	G	T	G1943258T	MYT1L	NM_001303052.2(MYT1L):c.229C>A:p.Pro77Thr	coding	Benign
2	1979078	C	A	C1979078A	MYT1L	NM_001303052.2(MYT1L):c.152+87G>T	noncoding	Benign
2	1979105	T	G	T1979105G	MYT1L	NM_001303052.2(MYT1L):c.152+60A>C	noncoding	Benign
2	1979469	G	A	G1979469A	MYT1L	NM_001303052.2(MYT1L):c.89+52C>T	noncoding	Benign
2	1979602	A	C	A1979602C	MYT1L	NM_001303052.2(MYT1L):c.56-48T>G	noncoding	Benign
2	1979623	C	T	C1979623T	MYT1L	NM_001303052.2(MYT1L):c.56-69G>A	noncoding	Benign
2	1979778	C	A	C1979778A	MYT1L	NM_001303052.2(MYT1L):c.1-1G>T	coding	Pathogenic
2	1979787	G	C	G1979787C	MYT1L	NM_001303052.2(MYT1L):c.1-10C>G	noncoding	Benign
2	1979825	G	T	G1979825T	MYT1L	NM_001303052.2(MYT1L):c.1-48C>A	noncoding	Benign
2	1979847	A	G	A1979847G	MYT1L	NM_001303052.2(MYT1L):c.1-70T>C	noncoding	Benign
2	3387687	G	A	G3387687A	TRAPPC12	NM_016030.6(TRAPPC12):c.64G>A:p.Ala22Thr	coding	Benign
2	3387768	G	A	G3387768A	TRAPPC12	NM_016030.6(TRAPPC12):c.145G>A:p.Glu49Lys	coding	Benign
2	3387798	G	A	G3387798A	TRAPPC12	NM_016030.6(TRAPPC12):c.175G>A:p.Ala59Thr	coding	Benign
2	3388055	C	T	C3388055T	TRAPPC12	NM_016030.6(TRAPPC12):c.432C>T:p.Ala144=	coding	Benign
2	3388250	C	T	C3388250T	TRAPPC12	NM_016030.6(TRAPPC12):c.627C>T:p.Phe209=	coding	Benign
2	3388304	T	C	T3388304C	TRAPPC12	NM_016030.6(TRAPPC12):c.681T>C:p.Phe227=	coding	Benign
2	3388356	C	T	C3388356T	TRAPPC12	NM_016030.6(TRAPPC12):c.733C>T:p.Pro245Ser	coding	Benign
2	3388524	A	G	A3388524G	TRAPPC12	NM_016030.6(TRAPPC12):c.901A>G:p.Ser301Gly	coding	Benign
2	3388559	C	T	C3388559T	TRAPPC12	NM_016030.6(TRAPPC12):c.936C>T:p.Pro312=	coding	Benign
2	3401896	A	G	A3401896G	TRAPPC12	NM_016030.6(TRAPPC12):c.1164+3A>G	noncoding	Benign
2	3421958	C	T	C3421958T	TRAPPC12	NM_016030.6(TRAPPC12):c.1242C>T:p.Ser414=	coding	Benign
2	3421960	G	A	G3421960A	TRAPPC12	NM_016030.6(TRAPPC12):c.1244G>A:p.Gly415Glu	coding	Benign
2	3424679	T	C	T3424679C	TRAPPC12	NM_016030.6(TRAPPC12):c.1417+16T>C	noncoding	Benign
2	3443806	T	C	T3443806C	TRAPPC12	NM_016030.6(TRAPPC12):c.1445T>C:p.Ile482Thr	coding	Benign
2	3457705	G	A	G3457705A	TRAPPC12	NM_016030.6(TRAPPC12):c.1603+12G>A	noncoding	Benign
2	3465641	T	C	T3465641C	TRAPPC12	NM_016030.6(TRAPPC12):c.1722T>C:p.Tyr574=	coding	Benign
2	3465692	G	C	G3465692C	TRAPPC12	NM_016030.6(TRAPPC12):c.1773G>C:p.Leu591=	coding	Benign
2	3465711	C	A	C3465711A	TRAPPC12	NM_016030.6(TRAPPC12):c.1776+16C>A	noncoding	Pathogenic
2	3477680	A	C	A3477680C	TRAPPC12	NM_016030.6(TRAPPC12):c.1777-15A>C	noncoding	Benign
2	3477760	T	C	T3477760C	TRAPPC12	NM_016030.6(TRAPPC12):c.1842T>C:p.Asp614=	coding	Benign
2	3478827	A	T	A3478827T	TRAPPC12	NM_016030.6(TRAPPC12):c.1878-19A>T	noncoding	Benign
2	3478951	C	T	C3478951T	TRAPPC12	NM_016030.6(TRAPPC12):c.1965+18C>T	noncoding	Benign
2	3479410	C	T	C3479410T	TRAPPC12	NM_016030.6(TRAPPC12):c.2157C>T:p.Val719=	coding	Benign
2	3479434	C	T	C3479434T	TRAPPC12	NM_016030.6(TRAPPC12):c.2181C>T:p.Phe727=	coding	Benign
2	3548244	C	A	C3548244A	RNASEH1	NM_002936.6(RNASEH1):c.650-189G>T	noncoding	Benign
2	3548627	T	C	T3548627C	RNASEH1	NM_002936.6(RNASEH1):c.649+13A>G	noncoding	Benign
2	3551873	G	A	G3551873A	RNASEH1	NM_002936.6(RNASEH1):c.409+271C>T	noncoding	Benign
2	3558316	C	A	C3558316A	RNASEH1	NM_002936.6(RNASEH1):c.-56G>T	noncoding	Benign
2	3558529	A	G	A3558529G	RNASEH1	NR_038429.1(RNASEH1-DT):n.144A>G	noncoding	Benign
2	3575072	G	T	G3575072T	RPS7	Single_allele	noncoding	Benign
2	3575685	G	A	G3575685A	RPS7	NM_001011.4(RPS7):c.75+1G>A	coding	Pathogenic
2	3576615	C	G	C3576615G	RPS7	NM_001011.4(RPS7):c.276C>G:p.Val92=	coding	Benign
2	3576713	G	A	G3576713A	RPS7	NM_001011.4(RPS7):c.291+83G>A	noncoding	Benign
2	3577448	G	T	G3577448T	RPS7	NM_001011.4(RPS7):c.292-262G>T	noncoding	Benign
2	3577477	T	C	T3577477C	RPS7	NM_001011.4(RPS7):c.292-233T>C	noncoding	Benign
2	3577557	G	C	G3577557C	RPS7	NM_001011.4(RPS7):c.292-153G>C	noncoding	Benign
2	3577585	T	C	T3577585C	RPS7	NM_001011.4(RPS7):c.292-125T>C	noncoding	Benign
2	3577589	C	T	C3577589T	RPS7	NM_001011.4(RPS7):c.292-121C>T	noncoding	Benign
2	3577671	C	T	C3577671T	RPS7	NM_001011.4(RPS7):c.292-39C>T	noncoding	Benign
2	3577839	A	G	A3577839G	RPS7	NM_001011.4(RPS7):c.356+65A>G	noncoding	Benign
2	3580058	G	C	G3580058C	RPS7	NM_001011.4(RPS7):c.357-52G>C	noncoding	Benign
2	3580608	C	T	C3580608T	RPS7	NM_001011.4(RPS7):c.508-197C>T	noncoding	Benign
2	3613401	C	T	C3613401T	COLEC11	NM_024027.5(COLEC11):c.202+19C>T	noncoding	Benign
2	3637573	T	C	T3637573C	COLEC11	NM_024027.5(COLEC11):c.243T>C:p.Arg81=	coding	Benign
2	3637585	T	C	T3637585C	COLEC11	NM_024027.5(COLEC11):c.255T>C:p.Ile85=	coding	Benign
2	3643958	A	G	A3643958G	COLEC11	NM_024027.5(COLEC11):c.656A>G:p.His219Arg	coding	Benign
2	5692502	C	A	C5692502A	SOX11	NM_003108.4(SOX11):c.-220C>A	noncoding	Benign
2	5692535	T	C	T5692535C	SOX11	NM_003108.4(SOX11):c.-187T>C	noncoding	Benign
2	5692891	T	C	T5692891C	SOX11	NM_003108.4(SOX11):c.170T>C:p.Met57Thr	coding	Pathogenic
2	5692896	T	C	T5692896C	SOX11	NM_003108.4(SOX11):c.175T>C:p.Trp59Arg	coding	Pathogenic
2	5692911	C	G	C5692911G	SOX11	NM_003108.4(SOX11):c.190C>G:p.Arg64Gly	coding	Pathogenic
2	5693354	C	T	C5693354T	SOX11	NM_003108.4(SOX11):c.633C>T:p.Gly211=	coding	Benign
2	7024447	A	G	A7024447G	RNF144A	NM_014746.6(RNF144A):c.588A>G:p.Glu196=	coding	Benign
2	8730732	T	C	T8730732C	KIDINS220	NM_020738.4(KIDINS220):c.5304A>G:p.Glu1768=	coding	Benign
2	8731212	C	A	C8731212A	KIDINS220	NM_020738.4(KIDINS220):c.4824G>T:p.Gln1608His	coding	Benign
2	8731485	T	C	T8731485C	KIDINS220	NM_020738.4(KIDINS220):c.4551A>G:p.Gln1517=	coding	Benign/Likely_benign
2	8733601	G	C	G8733601C	KIDINS220	NM_020738.4(KIDINS220):c.3896C>G:p.Ala1299Gly	coding	Benign
2	8736667	A	G	A8736667G	KIDINS220	NM_020738.4(KIDINS220):c.3717+201T>C	noncoding	Benign
2	8736912	G	A	G8736912A	KIDINS220	NM_020738.4(KIDINS220):c.3673C>T:p.Leu1225=	coding	Benign
2	8747050	A	G	A8747050G	KIDINS220	NM_020738.4(KIDINS220):c.3585+95T>C	noncoding	Benign
2	8747274	T	C	T8747274C	KIDINS220	NM_020738.4(KIDINS220):c.3529-73A>G	noncoding	Benign
2	8747296	A	G	A8747296G	KIDINS220	NM_020738.4(KIDINS220):c.3529-95T>C	noncoding	Benign
2	8747780	A	T	A8747780T	KIDINS220	NM_020738.4(KIDINS220):c.3528+107T>A	noncoding	Benign
2	8747956	G	A	G8747956A	KIDINS220	NM_020738.4(KIDINS220):c.3459C>T:p.Gly1153=	coding	Benign/Likely_benign
2	8748004	T	C	T8748004C	KIDINS220	NM_020738.4(KIDINS220):c.3415-4A>G	noncoding	Pathogenic
2	8748198	G	A	G8748198A	KIDINS220	NM_020738.4(KIDINS220):c.3415-198C>T	noncoding	Benign
2	8750049	G	A	G8750049A	KIDINS220	NM_020738.4(KIDINS220):c.3414+63C>T	noncoding	Benign
2	8750148	G	A	G8750148A	KIDINS220	NM_020738.4(KIDINS220):c.3378C>T:p.Ser1126=	coding	Benign
2	8750329	C	T	C8750329T	KIDINS220	NM_020738.4(KIDINS220):c.3197G>A:p.Arg1066His	coding	Benign
2	8751266	T	G	T8751266G	KIDINS220	NM_020738.4(KIDINS220):c.3190+200A>C	noncoding	Benign
2	8770587	T	C	T8770587C	KIDINS220	NM_020738.4(KIDINS220):c.3011+83A>G	noncoding	Benign
2	8770857	A	T	A8770857T	KIDINS220	NM_020738.4(KIDINS220):c.2849-25T>A	noncoding	Benign
2	8770880	T	C	T8770880C	KIDINS220	NM_020738.4(KIDINS220):c.2849-48A>G	noncoding	Benign
2	8776717	A	T	A8776717T	KIDINS220	NM_020738.4(KIDINS220):c.2848+31T>A	noncoding	Benign
2	8776815	G	A	G8776815A	KIDINS220	NM_020738.4(KIDINS220):c.2781C>T:p.Thr927=	coding	Benign
2	8778518	T	C	T8778518C	KIDINS220	NM_020738.4(KIDINS220):c.2703+121A>G	noncoding	Benign
2	8778954	T	C	T8778954C	KIDINS220	NM_020738.4(KIDINS220):c.2556A>G:p.Ala852=	coding	Benign
2	8788919	C	T	C8788919T	KIDINS220	NM_020738.4(KIDINS220):c.1622-107G>A	noncoding	Benign
2	8791307	T	C	T8791307C	KIDINS220	NM_020738.4(KIDINS220):c.1277-83A>G	noncoding	Benign
2	8796755	C	T	C8796755T	KIDINS220	NM_020738.4(KIDINS220):c.1098+16G>A	noncoding	Benign
2	8796925	G	T	G8796925T	KIDINS220	NM_020738.4(KIDINS220):c.1000-56C>A	noncoding	Benign
2	8796926	T	C	T8796926C	KIDINS220	NM_020738.4(KIDINS220):c.1000-57A>G	noncoding	Benign
2	8800273	G	A	G8800273A	KIDINS220	NM_020738.4(KIDINS220):c.900+127C>T	noncoding	Benign
2	8800677	T	C	T8800677C	KIDINS220	NM_020738.4(KIDINS220):c.802-179A>G	noncoding	Benign
2	8802913	T	A	T8802913A	KIDINS220	NM_020738.4(KIDINS220):c.801+17A>T	noncoding	Benign
2	8803161	G	A	G8803161A	KIDINS220	NM_020738.4(KIDINS220):c.604-34C>T	noncoding	Benign
2	8806211	C	A	C8806211A	KIDINS220	NM_020738.4(KIDINS220):c.603+60G>T	noncoding	Benign
2	8806438	G	T	G8806438T	KIDINS220	NM_020738.4(KIDINS220):c.505-69C>A	noncoding	Benign
2	8813514	A	C	A8813514C	KIDINS220	NM_020738.4(KIDINS220):c.307-179T>G	noncoding	Benign
2	8817705	T	C	T8817705C	KIDINS220	NM_020738.4(KIDINS220):c.219A>G:p.Thr73=	coding	Benign
2	9441942	T	C	T9441942C	CPSF3	NM_016207.4(CPSF3):c.1061T>C:p.Ile354Thr	coding	Pathogenic
2	9452920	G	A	G9452920A	CPSF3	NM_016207.4(CPSF3):c.1403G>A:p.Gly468Glu	coding	Pathogenic
2	9489887	T	C	T9489887C	ADAM17	NM_003183.6(ADAM17):c.*290A>G	noncoding	Benign
2	9490102	C	T	C9490102T	ADAM17	NM_003183.6(ADAM17):c.*75G>A	noncoding	Benign
2	9490412	G	A	G9490412A	ADAM17	NM_003183.6(ADAM17):c.2240C>T:p.Ser747Leu	coding	Benign
2	9490529	A	G	A9490529G	ADAM17	NM_003183.6(ADAM17):c.2134-11T>C	noncoding	Benign
2	9490532	G	A	G9490532A	ADAM17	NM_003183.6(ADAM17):c.2134-14C>T	noncoding	Benign
2	9491211	T	C	T9491211C	ADAM17	NM_003183.6(ADAM17):c.2083-60A>G	noncoding	Benign
2	9492673	T	C	T9492673C	ADAM17	NM_003183.6(ADAM17):c.2082+225A>G	noncoding	Benign
2	9492846	G	A	G9492846A	ADAM17	NM_003183.6(ADAM17):c.2082+52C>T	noncoding	Benign
2	9493008	T	G	T9493008G	ADAM17	NM_003183.6(ADAM17):c.1994-22A>C	noncoding	Benign
2	9493971	G	A	G9493971A	ADAM17	NM_003183.6(ADAM17):c.1915-146C>T	noncoding	Benign
2	9494718	A	G	A9494718G	ADAM17	NM_003183.6(ADAM17):c.1833T>C:p.Cys611=	coding	Benign
2	9494727	A	G	A9494727G	ADAM17	NM_003183.6(ADAM17):c.1824T>C:p.Ser608=	coding	Benign
2	9494813	G	A	G9494813A	ADAM17	NM_003183.6(ADAM17):c.1784-46C>T	noncoding	Benign
2	9496956	C	G	C9496956G	ADAM17	NM_003183.6(ADAM17):c.1783+158G>C	noncoding	Benign
2	9497274	A	G	A9497274G	ADAM17	NM_003183.6(ADAM17):c.1649-26T>C	noncoding	Benign
2	9502349	C	T	C9502349T	ADAM17	NM_003183.6(ADAM17):c.1545-73G>A	noncoding	Benign
2	9502392	C	T	C9502392T	ADAM17	NM_003183.6(ADAM17):c.1545-116G>A	noncoding	Benign
2	9502601	G	A	G9502601A	ADAM17	NM_003183.6(ADAM17):c.1545-325C>T	noncoding	Benign
2	9505151	G	A	G9505151A	ADAM17	NM_003183.6(ADAM17):c.1544+15C>T	noncoding	Benign
2	9505503	C	A	C9505503A	ADAM17	NM_003183.6(ADAM17):c.1345-138G>T	noncoding	Benign
2	9505660	C	T	C9505660T	ADAM17	NM_003183.6(ADAM17):c.1345-295G>A	noncoding	Benign
2	9509837	A	G	A9509837G	ADAM17	NM_003183.6(ADAM17):c.1344+142T>C	noncoding	Benign
2	9517668	C	T	C9517668T	ADAM17	NM_003183.6(ADAM17):c.1191+233G>A	noncoding	Benign
2	9517698	A	G	A9517698G	ADAM17	NM_003183.6(ADAM17):c.1191+203T>C	noncoding	Benign
2	9517818	A	T	A9517818T	ADAM17	NM_003183.6(ADAM17):c.1191+83T>A	noncoding	Benign
2	9520919	A	C	A9520919C	ADAM17	NM_003183.6(ADAM17):c.957+284T>G	noncoding	Benign
2	9520925	T	C	T9520925C	ADAM17	NM_003183.6(ADAM17):c.957+278A>G	noncoding	Benign
2	9520929	C	A	C9520929A	ADAM17	NM_003183.6(ADAM17):c.957+274G>T	noncoding	Benign
2	9520938	A	T	A9520938T	ADAM17	NM_003183.6(ADAM17):c.957+265T>A	noncoding	Benign
2	9520943	A	G	A9520943G	ADAM17	NM_003183.6(ADAM17):c.957+260T>C	noncoding	Benign
2	9520951	T	C	T9520951C	ADAM17	NM_003183.6(ADAM17):c.957+252A>G	noncoding	Benign
2	9520954	A	G	A9520954G	ADAM17	NM_003183.6(ADAM17):c.957+249T>C	noncoding	Benign
2	9520959	T	C	T9520959C	ADAM17	NM_003183.6(ADAM17):c.957+244A>G	noncoding	Benign
2	9521055	T	C	T9521055C	ADAM17	NM_003183.6(ADAM17):c.957+148A>G	noncoding	Benign
2	9521460	C	T	C9521460T	ADAM17	NM_003183.6(ADAM17):c.844-144G>A	noncoding	Benign
2	9521646	G	A	G9521646A	ADAM17	NM_003183.6(ADAM17):c.844-330C>T	noncoding	Benign
2	9523631	C	T	C9523631T	ADAM17	NM_003183.6(ADAM17):c.754-293G>A	noncoding	Benign
2	9526396	G	A	G9526396A	ADAM17	NM_003183.6(ADAM17):c.620-152C>T	noncoding	Benign
2	9527622	T	C	T9527622C	ADAM17	NM_003183.6(ADAM17):c.619+164A>G	noncoding	Benign
2	9527974	C	T	C9527974T	ADAM17	NM_003183.6(ADAM17):c.451-20G>A	noncoding	Benign
2	9543567	T	C	T9543567C	ADAM17	NM_003183.6(ADAM17):c.98-282A>G	noncoding	Benign
2	9555759	G	T	G9555759T	ADAM17	NM_003183.6(ADAM17):c.-154C>A	noncoding	Benign
2	9555777	A	G	A9555777G	ADAM17	NM_003183.6(ADAM17):c.-172T>C	noncoding	Benign
2	10043843	A	G	A10043843G	KLF11	NM_003597.5(KLF11):c.42+85A>G	coding	Benign
2	10044022	G	T	G10044022T	KLF11	NM_003597.5(KLF11):c.42+264G>T	noncoding	Benign
2	10046303	C	T	C10046303T	KLF11	NM_003597.5(KLF11):c.196C>T:p.Leu66=	coding	Benign
2	10047406	G	C	G10047406C	KLF11	NM_003597.5(KLF11):c.313-244G>C	noncoding	Benign
2	10048522	A	T	A10048522T	KLF11	NM_003597.5(KLF11):c.1185A>T:p.Val395=	coding	Benign
2	10079901	C	T	C10079901T	CYS1	NM_001037160.3(CYS1):c.318+5G>A	noncoding	Pathogenic
2	10440841	G	A	G10440841A	ODC1	NM_002539.3(ODC1):c.1269C>T:p.Pro423=	coding	Benign
2	10440870	T	C	T10440870C	ODC1	NM_002539.3(ODC1):c.1242-2A>G	noncoding	Pathogenic
2	10912894	A	G	A10912894G	KCNF1	NM_002236.5(KCNF1):c.468A>G:p.Ala156=	coding	Benign
2	10913614	C	T	C10913614T	KCNF1	NM_002236.5(KCNF1):c.1188C>T:p.Ile396=	coding	Benign
2	11214974	T	A	T11214974A	ROCK2	NM_004850.5(ROCK2):c.1802A>T:p.Asp601Val	coding	Benign
2	11677236	T	G	T11677236G	LPIN1	NM_145693.2(LPIN1):c.-69445T>G	noncoding	Benign
2	11677238	G	A	G11677238A	LPIN1	NM_145693.2(LPIN1):c.-69443G>A	noncoding	Benign
2	11677579	G	A	G11677579A	LPIN1	NM_001261428.3(LPIN1):c.-69G>A	noncoding	Benign
2	11677893	G	A	G11677893A	LPIN1	NM_001261428.3(LPIN1):c.81+165G>A	noncoding	Benign
2	11678003	G	A	G11678003A	LPIN1	NM_001261428.3(LPIN1):c.81+275G>A	noncoding	Benign
2	11713457	G	T	G11713457T	LPIN1	NM_001261428.3(LPIN1):c.82-299G>T	noncoding	Benign
2	11713459	C	G	C11713459G	LPIN1	NM_001261428.3(LPIN1):c.82-297C>G	noncoding	Benign
2	11713596	T	C	T11713596C	LPIN1	NM_001261428.3(LPIN1):c.82-160T>C	noncoding	Benign
2	11713629	G	A	G11713629A	LPIN1	NM_001261428.3(LPIN1):c.82-127G>A	noncoding	Benign
2	11713648	T	C	T11713648C	LPIN1	NM_001261428.3(LPIN1):c.82-108T>C	noncoding	Benign
2	11713837	C	T	C11713837T	LPIN1	NM_001261428.3(LPIN1):c.138+25C>T	noncoding	Benign
2	11713838	G	A	G11713838A	LPIN1	NM_001261428.3(LPIN1):c.138+26G>A	noncoding	Benign
2	11713862	A	T	A11713862T	LPIN1	NM_001261428.3(LPIN1):c.138+50A>T	noncoding	Benign
2	11713886	G	A	G11713886A	LPIN1	NM_001261428.3(LPIN1):c.138+74G>A	noncoding	Benign
2	11713973	T	C	T11713973C	LPIN1	NM_001261428.3(LPIN1):c.138+161T>C	noncoding	Benign
2	11741072	A	C	A11741072C	LPIN1	NM_001261427.3(LPIN1):c.-71-277A>C	noncoding	Benign
2	11765512	T	G	T11765512G	LPIN1	NM_001349206.2(LPIN1):c.-9-21T>G	noncoding	Benign
2	11765722	C	T	C11765722T	LPIN1	NM_001349206.2(LPIN1):c.181C>T:p.Arg61Ter	coding	Pathogenic
2	11765904	C	T	C11765904T	LPIN1	NM_001349206.2(LPIN1):c.192+171C>T	noncoding	Benign
2	11765923	G	A	G11765923A	LPIN1	NM_001349206.2(LPIN1):c.192+190G>A	noncoding	Benign
2	11773312	C	T	C11773312T	LPIN1	NM_001349206.2(LPIN1):c.597-308C>T	noncoding	Benign
2	11773602	T	A	T11773602A	LPIN1	NM_001349206.2(LPIN1):c.597-18T>A	noncoding	Benign/Likely_benign
2	11775915	T	C	T11775915C	LPIN1	NM_001349206.2(LPIN1):c.723-171T>C	noncoding	Benign
2	11776229	A	G	A11776229G	LPIN1	NM_001349206.2(LPIN1):c.830+36A>G	noncoding	Benign
2	11779372	G	A	G11779372A	LPIN1	NM_001349206.2(LPIN1):c.831-147G>A	noncoding	Benign
2	11779894	T	G	T11779894G	LPIN1	NM_001349206.2(LPIN1):c.957+249T>G	noncoding	Benign
2	11782729	A	G	A11782729G	LPIN1	NM_001349206.2(LPIN1):c.1264+222A>G	noncoding	Benign
2	11783549	A	G	A11783549G	LPIN1	NM_001349206.2(LPIN1):c.1265-280A>G	noncoding	Benign
2	11783840	C	T	C11783840T	LPIN1	NM_001349206.2(LPIN1):c.1276C>T:p.Arg426Ter	coding	Pathogenic/Likely_pathogenic
2	11783878	C	T	C11783878T	LPIN1	NM_001349206.2(LPIN1):c.1314C>T:p.Leu438=	coding	Benign
2	11783934	G	A	G11783934A	LPIN1	NM_001349206.2(LPIN1):c.1358+12G>A	coding	Benign
2	11784692	T	G	T11784692G	LPIN1	NM_001349206.2(LPIN1):c.1359-194T>G	noncoding	Benign
2	11787088	C	T	C11787088T	LPIN1	NM_001349206.2(LPIN1):c.1564C>T:p.Gln522Ter	coding	Pathogenic
2	11787106	C	T	C11787106T	LPIN1	NM_001349206.2(LPIN1):c.1582C>T:p.Gln528Ter	coding	Pathogenic
2	11795196	G	C	G11795196C	LPIN1	NM_001349206.2(LPIN1):c.1807-212G>C	noncoding	Benign
2	11814816	T	C	T11814816C	LPIN1	NM_001349206.2(LPIN1):c.2250-272T>C	noncoding	Benign
2	11819138	A	G	A11819138G	LPIN1	NM_001349206.2(LPIN1):c.2403-346A>G	noncoding	Benign
2	11819256	C	T	C11819256T	LPIN1	NM_001349206.2(LPIN1):c.2403-228C>T	noncoding	Benign
2	11819779	T	C	T11819779C	LPIN1	NM_001349206.2(LPIN1):c.2517+181T>C	noncoding	Benign
2	11824460	C	T	C11824460T	LPIN1	NM_001349206.2(LPIN1):c.2622-172C>T	noncoding	Benign
2	11824461	A	G	A11824461G	LPIN1	NM_001349206.2(LPIN1):c.2622-171A>G	noncoding	Benign
2	15166737	G	C	G15166737C	NBAS	Single_allele	noncoding	Benign
2	15167440	T	G	T15167440G	NBAS	NM_015909.4(NBAS):c.6841-117A>C	noncoding	Benign
2	15178898	C	T	C15178898T	NBAS	NM_015909.4(NBAS):c.6840+90G>A	noncoding	Benign
2	15179023	C	T	C15179023T	NBAS	NM_015909.4(NBAS):c.6805G>A:p.Glu2269Lys	coding	Benign
2	15179084	G	A	G15179084A	NBAS	NM_015909.4(NBAS):c.6744C>T:p.Asn2248=	coding	Benign
2	15186710	T	C	T15186710C	NBAS	NM_015909.4(NBAS):c.6711+32A>G	noncoding	Benign
2	15186822	C	A	C15186822A	NBAS	NM_015909.4(NBAS):c.6631G>T:p.Glu2211Ter	coding	Pathogenic
2	15190087	G	A	G15190087A	NBAS	NM_015909.4(NBAS):c.6572+177C>T	noncoding	Benign
2	15190246	T	C	T15190246C	NBAS	NM_015909.4(NBAS):c.6572+18A>G	noncoding	Benign
2	15190596	A	G	A15190596G	NBAS	NM_015909.4(NBAS):c.6433-193T>C	noncoding	Benign
2	15219215	C	T	C15219215T	NBAS	NM_015909.4(NBAS):c.6237-247G>A	noncoding	Benign
2	15232438	C	T	C15232438T	NBAS	NM_015909.4(NBAS):c.6220G>A:p.Ala2074Thr	coding	Benign
2	15232512	C	A	C15232512A	NBAS	NM_015909.4(NBAS):c.6147-1G>T	coding	Pathogenic
2	15232607	T	G	T15232607G	NBAS	NM_015909.4(NBAS):c.6147-96A>C	noncoding	Benign
2	15234404	T	C	T15234404C	NBAS	NM_015909.4(NBAS):c.6146+141A>G	noncoding	Benign
2	15234763	A	G	A15234763G	NBAS	NM_015909.4(NBAS):c.5944-16T>C	noncoding	Benign
2	15238257	T	C	T15238257C	NBAS	NM_015909.4(NBAS):c.5943+211A>G	noncoding	Benign
2	15238457	C	G	C15238457G	NBAS	NM_015909.4(NBAS):c.5943+11G>C	noncoding	Benign
2	15238615	T	C	T15238615C	NBAS	NM_015909.4(NBAS):c.5796A>G:p.Pro1932=	coding	Benign
2	15238677	C	A	C15238677A	NBAS	NM_015909.4(NBAS):c.5734G>T:p.Glu1912Ter	coding	Pathogenic
2	15238684	C	G	C15238684G	NBAS	NM_015909.4(NBAS):c.5727G>C:p.Leu1909=	coding	Benign
2	15275401	C	T	C15275401T	NBAS	NM_015909.4(NBAS):c.5724+83G>A	noncoding	Benign
2	15275612	C	T	C15275612T	NBAS	NM_015909.4(NBAS):c.5596G>A:p.Val1866Ile	coding	Benign
2	15276783	T	C	T15276783C	NBAS	NM_015909.4(NBAS):c.5389+68A>G	noncoding	Benign
2	15277226	A	G	A15277226G	NBAS	NM_015909.4(NBAS):c.5139-125T>C	noncoding	Benign
2	15277289	C	T	C15277289T	NBAS	NM_015909.4(NBAS):c.5139-188G>A	noncoding	Benign
2	15286830	T	C	T15286830C	NBAS	NM_015909.4(NBAS):c.5138+243A>G	noncoding	Benign
2	15287049	C	T	C15287049T	NBAS	NM_015909.4(NBAS):c.5138+24G>A	noncoding	Benign
2	15287468	G	T	G15287468T	NBAS	NM_015909.4(NBAS):c.5028-285C>A	noncoding	Benign
2	15287500	T	C	T15287500C	NBAS	NM_015909.4(NBAS):c.5028-317A>G	noncoding	Benign
2	15292629	C	T	C15292629T	NBAS	NM_015909.4(NBAS):c.4935G>A:p.Ala1645=	coding	Benign
2	15292721	G	A	G15292721A	NBAS	NM_015909.4(NBAS):c.4843C>T:p.Arg1615Ter	coding	Pathogenic
2	15308187	A	T	A15308187T	NBAS	NM_015909.4(NBAS):c.4797+29T>A	noncoding	Benign
2	15308260	G	A	G15308260A	NBAS	NM_015909.4(NBAS):c.4753C>T:p.Arg1585Ter	coding	Pathogenic
2	15309159	G	C	G15309159C	NBAS	NM_015909.4(NBAS):c.4659+12C>G	noncoding	Benign
2	15309231	T	G	T15309231G	NBAS	NM_015909.4(NBAS):c.4599A>C:p.Ala1533=	coding	Benign
2	15327901	T	C	T15327901C	NBAS	NM_015909.4(NBAS):c.4462-31A>G	noncoding	Benign
2	15328262	A	G	A15328262G	NBAS	NM_015909.4(NBAS):c.4398T>C:p.Asp1466=	coding	Benign
2	15328301	A	C	A15328301C	NBAS	NM_015909.4(NBAS):c.4359T>G:p.Cys1453Trp	coding	Benign
2	15328412	A	G	A15328412G	NBAS	NM_015909.4(NBAS):c.4348-100T>C	noncoding	Benign
2	15328524	T	C	T15328524C	NBAS	NM_015909.4(NBAS):c.4348-212A>G	noncoding	Benign
2	15330609	G	A	G15330609A	NBAS	NM_015909.4(NBAS):c.4336C>T:p.Arg1446Ter	coding	Pathogenic
2	15330657	G	A	G15330657A	NBAS	NM_015909.4(NBAS):c.4288C>T:p.Gln1430Ter	coding	Pathogenic
2	15330724	C	T	C15330724T	NBAS	NM_015909.4(NBAS):c.4221G>A:p.Leu1407=	coding	Benign
2	15330878	C	A	C15330878A	NBAS	NM_015909.4(NBAS):c.4180-113G>T	noncoding	Benign
2	15330903	T	C	T15330903C	NBAS	NM_015909.4(NBAS):c.4180-138A>G	noncoding	Benign
2	15353757	A	G	A15353757G	NBAS	NM_015909.4(NBAS):c.3932-47T>C	noncoding	Benign
2	15354028	C	G	C15354028G	NBAS	NM_015909.4(NBAS):c.3932-318G>C	noncoding	Benign
2	15356032	C	T	C15356032T	NBAS	NM_015909.4(NBAS):c.3931+271G>A	noncoding	Benign
2	15356321	G	A	G15356321A	NBAS	NM_015909.4(NBAS):c.3913C>T:p.Gln1305Ter	coding	Pathogenic
2	15356545	G	C	G15356545C	NBAS	NM_015909.4(NBAS):c.3818-129C>G	noncoding	Benign
2	15356584	G	T	G15356584T	NBAS	NM_015909.4(NBAS):c.3818-168C>A	noncoding	Benign
2	15356598	A	G	A15356598G	NBAS	NM_015909.4(NBAS):c.3818-182T>C	noncoding	Benign
2	15366646	G	A	G15366646A	NBAS	NM_015909.4(NBAS):c.3751C>T:p.Gln1251Ter	coding	Pathogenic
2	15366708	C	T	C15366708T	NBAS	NM_015909.4(NBAS):c.3704-15G>A	noncoding	Benign
2	15366796	A	T	A15366796T	NBAS	NM_015909.4(NBAS):c.3704-103T>A	noncoding	Benign
2	15374337	T	C	T15374337C	NBAS	NM_015909.4(NBAS):c.3703+271A>G	noncoding	Benign
2	15374348	A	C	A15374348C	NBAS	NM_015909.4(NBAS):c.3703+260T>G	noncoding	Benign
2	15374684	G	A	G15374684A	NBAS	NM_015909.4(NBAS):c.3627C>T:p.Ala1209=	coding	Benign
2	15374858	T	C	T15374858C	NBAS	NM_015909.4(NBAS):c.3591-138A>G	noncoding	Benign
2	15374934	A	G	A15374934G	NBAS	NM_015909.4(NBAS):c.3591-214T>C	noncoding	Benign
2	15379589	A	G	A15379589G	NBAS	NM_015909.4(NBAS):c.3590+13T>C	noncoding	Benign
2	15379800	C	T	C15379800T	NBAS	NM_015909.4(NBAS):c.3392G>A:p.Arg1131His	coding	Benign
2	15379868	G	T	G15379868T	NBAS	NM_015909.4(NBAS):c.3361-37C>A	noncoding	Benign
2	15380029	T	C	T15380029C	NBAS	NM_015909.4(NBAS):c.3361-198A>G	noncoding	Benign
2	15382907	T	C	T15382907C	NBAS	NM_015909.4(NBAS):c.3360+308A>G	noncoding	Benign
2	15383142	A	T	A15383142T	NBAS	NM_015909.4(NBAS):c.3360+73T>A	noncoding	Benign
2	15383259	G	A	G15383259A	NBAS	NM_015909.4(NBAS):c.3316C>T:p.Gln1106Ter	coding	Pathogenic
2	15383425	T	C	T15383425C	NBAS	NM_015909.4(NBAS):c.3258-108A>G	noncoding	Benign
2	15394518	G	A	G15394518A	NBAS	NM_015909.4(NBAS):c.3135-169C>T	noncoding	Benign
2	15394599	A	G	A15394599G	NBAS	NM_015909.4(NBAS):c.3135-250T>C	noncoding	Benign
2	15396190	C	T	C15396190T	NBAS	NM_015909.4(NBAS):c.3134+223G>A	noncoding	Benign
2	15396398	T	C	T15396398C	NBAS	NM_015909.4(NBAS):c.3134+15A>G	noncoding	Benign
2	15396748	T	C	T15396748C	NBAS	NM_015909.4(NBAS):c.3072-273A>G	noncoding	Benign
2	15402035	A	G	A15402035G	NBAS	NM_015909.4(NBAS):c.3071+133T>C	noncoding	Benign
2	15402213	C	G	C15402213G	NBAS	NM_015909.4(NBAS):c.3026G>C:p.Cys1009Ser	coding	Benign
2	15402228	C	T	C15402228T	NBAS	NM_015909.4(NBAS):c.3011G>A:p.Arg1004Gln	coding	Benign
2	15402229	G	A	G15402229A	NBAS	NM_015909.4(NBAS):c.3010C>T:p.Arg1004Ter	coding	Pathogenic
2	15402249	T	G	T15402249G	NBAS	NM_015909.4(NBAS):c.2990A>C:p.Glu997Ala	coding	Benign
2	15415527	G	A	G15415527A	NBAS	NM_015909.4(NBAS):c.2937+19C>T	noncoding	Benign
2	15415638	C	G	C15415638G	NBAS	NM_015909.4(NBAS):c.2845G>C:p.Val949Leu	coding	Benign
2	15415656	C	A	C15415656A	NBAS	NM_015909.4(NBAS):c.2827G>T:p.Glu943Ter	coding	Pathogenic
2	15415681	C	T	C15415681T	NBAS	NM_015909.4(NBAS):c.2802G>A:p.Trp934Ter	coding	Pathogenic
2	15415708	A	G	A15415708G	NBAS	NM_015909.4(NBAS):c.2775T>C:p.Asp925=	coding	Benign
2	15417411	A	T	A15417411T	NBAS	NM_015909.4(NBAS):c.2763+116T>A	noncoding	Benign
2	15417571	G	A	G15417571A	NBAS	NM_015909.4(NBAS):c.2719C>T:p.Gln907Ter	coding	Pathogenic
2	15424327	A	G	A15424327G	NBAS	NM_015909.4(NBAS):c.2565T>C:p.His855=	coding	Benign
2	15424488	C	T	C15424488T	NBAS	NM_015909.4(NBAS):c.2424-20G>A	noncoding	Benign
2	15424594	T	C	T15424594C	NBAS	NM_015909.4(NBAS):c.2424-126A>G	noncoding	Benign
2	15424675	T	C	T15424675C	NBAS	NM_015909.4(NBAS):c.2424-207A>G	noncoding	Benign
2	15427112	A	G	A15427112G	NBAS	NM_015909.4(NBAS):c.2423+599T>C	noncoding	Benign
2	15427525	T	C	T15427525C	NBAS	NM_015909.4(NBAS):c.2423+186A>G	noncoding	Benign
2	15427700	C	T	C15427700T	NBAS	NM_015909.4(NBAS):c.2423+11G>A	noncoding	Benign/Likely_benign
2	15427745	G	A	G15427745A	NBAS	NM_015909.4(NBAS):c.2389C>T:p.Arg797Ter	coding	Pathogenic
2	15461200	C	A	C15461200A	NBAS	NM_015909.4(NBAS):c.2339+1G>T	noncoding	Pathogenic
2	15461317	C	T	C15461317T	NBAS	NM_015909.4(NBAS):c.2223G>A:p.Leu741=	coding	Benign
2	15461377	A	G	A15461377G	NBAS	NM_015909.4(NBAS):c.2203-40T>C	noncoding	Benign
2	15461450	C	T	C15461450T	NBAS	NM_015909.4(NBAS):c.2203-113G>A	noncoding	Benign
2	15462053	A	G	A15462053G	NBAS	NM_015909.4(NBAS):c.2098-262T>C	noncoding	Benign
2	15467695	G	A	G15467695A	NBAS	NM_015909.4(NBAS):c.1987C>T:p.Gln663Ter	coding	Pathogenic/Likely_pathogenic
2	15467702	C	T	C15467702T	NBAS	NM_015909.4(NBAS):c.1980G>A:p.Lys660=	coding	Benign
2	15467718	T	C	T15467718C	NBAS	NM_015909.4(NBAS):c.1964A>G:p.Lys655Arg	coding	Benign
2	15467889	C	A	C15467889A	NBAS	NM_015909.4(NBAS):c.1878-85G>T	noncoding	Benign
2	15467999	T	C	T15467999C	NBAS	NM_015909.4(NBAS):c.1878-195A>G	noncoding	Benign
2	15468086	A	G	A15468086G	NBAS	NM_015909.4(NBAS):c.1878-282T>C	noncoding	Benign
2	15468324	G	A	G15468324A	NBAS	NM_015909.4(NBAS):c.1877+58C>T	noncoding	Benign
2	15468401	T	A	T15468401A	NBAS	NM_015909.4(NBAS):c.1858A>T:p.Lys620Ter	coding	Pathogenic
2	15468518	G	A	G15468518A	NBAS	NM_015909.4(NBAS):c.1741C>T:p.Arg581Ter	coding	Pathogenic
2	15468581	T	C	T15468581C	NBAS	NM_015909.4(NBAS):c.1726-48A>G	noncoding	Benign
2	15473333	C	T	C15473333T	NBAS	NM_015909.4(NBAS):c.1614G>A:p.Glu538=	coding	Benign
2	15473336	T	C	T15473336C	NBAS	NM_015909.4(NBAS):c.1611A>G:p.Glu537=	coding	Benign
2	15473554	T	C	T15473554C	NBAS	NM_015909.4(NBAS):c.1600-207A>G	noncoding	Benign
2	15473591	G	A	G15473591A	NBAS	NM_015909.4(NBAS):c.1600-244C>T	noncoding	Benign
2	15473672	C	T	C15473672T	NBAS	NM_015909.4(NBAS):c.1600-325G>A	noncoding	Benign
2	15473870	T	C	T15473870C	NBAS	NM_015909.4(NBAS):c.1599+197A>G	noncoding	Benign
2	15474138	G	A	G15474138A	NBAS	NM_015909.4(NBAS):c.1528C>T:p.Arg510Ter	coding	Pathogenic
2	15474280	T	C	T15474280C	NBAS	NM_015909.4(NBAS):c.1386A>G:p.Arg462=	coding	Benign
2	15474300	G	A	G15474300A	NBAS	NM_015909.4(NBAS):c.1366C>T:p.Arg456Ter	coding	Pathogenic
2	15475580	T	C	T15475580C	NBAS	NM_015909.4(NBAS):c.1341+107A>G	noncoding	Benign
2	15475745	C	T	C15475745T	NBAS	NM_015909.4(NBAS):c.1283G>A:p.Trp428Ter	coding	Pathogenic
2	15475761	C	A	C15475761A	NBAS	NM_015909.4(NBAS):c.1267G>T:p.Gly423Ter	coding	Pathogenic
2	15475786	A	G	A15475786G	NBAS	NM_015909.4(NBAS):c.1242T>C:p.Ser414=	coding	Benign
2	15475813	T	C	T15475813C	NBAS	NM_015909.4(NBAS):c.1215A>G:p.Arg405=	coding	Benign
2	15475815	G	A	G15475815A	NBAS	NM_015909.4(NBAS):c.1213C>T:p.Arg405Ter	coding	Pathogenic/Likely_pathogenic
2	15475889	C	G	C15475889G	NBAS	NM_015909.4(NBAS):c.1148-9G>C	noncoding	Benign
2	15475906	C	T	C15475906T	NBAS	NM_015909.4(NBAS):c.1148-26G>A	noncoding	Benign
2	15476091	C	T	C15476091T	NBAS	NM_015909.4(NBAS):c.1148-211G>A	noncoding	Benign
2	15478215	G	A	G15478215A	NBAS	NM_015909.4(NBAS):c.1147+11C>T	noncoding	Benign
2	15503983	C	A	C15503983A	NBAS	NM_015909.4(NBAS):c.954+162G>T	noncoding	Benign
2	15503987	C	T	C15503987T	NBAS	NM_015909.4(NBAS):c.954+158G>A	noncoding	Benign
2	15504092	T	G	T15504092G	NBAS	NM_015909.4(NBAS):c.954+53A>C	noncoding	Benign
2	15504184	C	T	C15504184T	NBAS	NM_015909.4(NBAS):c.915G>A:p.Met305Ile	coding	Benign
2	15504277	C	T	C15504277T	NBAS	NM_015909.4(NBAS):c.886-64G>A	noncoding	Benign
2	15511306	G	C	G15511306C	NBAS	NM_015909.4(NBAS):c.791C>G:p.Ser264Ter	coding	Pathogenic
2	15534265	C	T	C15534265T	NBAS	NM_015909.4(NBAS):c.746+278G>A	noncoding	Benign
2	15534562	T	C	T15534562C	NBAS	NM_015909.4(NBAS):c.727A>G:p.Ile243Val	coding	Benign
2	15534655	G	A	G15534655A	NBAS	NM_015909.4(NBAS):c.648-14C>T	noncoding	Benign
2	15534801	T	C	T15534801C	NBAS	NM_015909.4(NBAS):c.648-160A>G	noncoding	Benign
2	15534887	C	T	C15534887T	NBAS	NM_015909.4(NBAS):c.648-246G>A	noncoding	Benign
2	15536562	G	A	G15536562A	NBAS	NM_015909.4(NBAS):c.514-11C>T	noncoding	Benign
2	15536760	T	A	T15536760A	NBAS	NM_015909.4(NBAS):c.514-209A>T	noncoding	Benign
2	15539485	A	T	A15539485T	NBAS	NM_015909.4(NBAS):c.380-129T>A	noncoding	Benign
2	15539576	T	C	T15539576C	NBAS	NM_015909.4(NBAS):c.380-220A>G	noncoding	Benign
2	15551258	C	T	C15551258T	NBAS	NM_015909.4(NBAS):c.379+235G>A	noncoding	Benign
2	15551480	T	C	T15551480C	NBAS	NM_015909.4(NBAS):c.379+13A>G	noncoding	Benign
2	15551667	G	T	G15551667T	NBAS	NM_015909.4(NBAS):c.336-131C>A	noncoding	Benign
2	15551762	G	A	G15551762A	NBAS	NM_015909.4(NBAS):c.336-226C>T	noncoding	Benign
2	15553414	A	C	A15553414C	NBAS	NM_015909.4(NBAS):c.335+12T>G	noncoding	Benign
2	15553484	G	C	G15553484C	NBAS	NM_015909.4(NBAS):c.288-11C>G	noncoding	Benign
2	15553664	C	A	C15553664A	NBAS	NM_015909.4(NBAS):c.288-191G>T	noncoding	Benign
2	15556531	A	G	A15556531G	NBAS	NM_015909.4(NBAS):c.209+252T>C	noncoding	Benign
2	15558490	T	C	T15558490C	NBAS	NM_015909.4(NBAS):c.172+90A>G	noncoding	Benign
2	15558583	G	A	G15558583A	NBAS	NM_015909.4(NBAS):c.169C>T:p.Arg57Ter	coding	Pathogenic
2	15560878	A	T	A15560878T	NBAS	NM_015909.4(NBAS):c.117+310T>A	noncoding	Benign
2	15560914	G	A	G15560914A	NBAS	NM_015909.4(NBAS):c.117+274C>T	noncoding	Benign
2	15942320	G	T	G15942320T	MYCN	NM_005378.6(MYCN):c.256G>T:p.Glu86Ter	coding	Pathogenic
2	15942614	G	T	G15942614T	MYCN	NM_005378.6(MYCN):c.550G>T:p.Ala184Ser	coding	Benign
2	15942678	T	C	T15942678C	MYCN	NM_005378.6(MYCN):c.614T>C:p.Val205Ala	coding	Benign
2	15945753	A	T	A15945753T	MYCN	NM_005378.6(MYCN):c.1051A>T:p.Lys351Ter	coding	Pathogenic
2	15945795	C	G	C15945795G	MYCN	NM_005378.6(MYCN):c.1093C>G:p.Pro365Ala	coding	Benign/Likely_benign
2	15946347	C	T	C15946347T	MYCN	NM_005378.6(MYCN):c.*250C>T	noncoding	Benign
2	17760156	T	G	T17760156G	GEN1	NM_001130009.3(GEN1):c.161+52T>G	noncoding	Benign
2	17761360	T	A	T17761360A	GEN1	NM_001130009.3(GEN1):c.162-36T>A	noncoding	Benign
2	17761372	G	A	G17761372A	GEN1	NM_001130009.3(GEN1):c.162-24G>A	noncoding	Benign
2	17761508	T	A	T17761508A	GEN1	NM_001130009.3(GEN1):c.274T>A:p.Ser92Thr	coding	Benign
2	17761589	A	G	A17761589G	GEN1	NM_001130009.3(GEN1):c.348+7A>G	noncoding	Benign
2	17761698	C	A	C17761698A	GEN1	NM_001130009.3(GEN1):c.348+116C>A	noncoding	Benign
2	17761748	T	C	T17761748C	GEN1	NM_001130009.3(GEN1):c.348+166T>C	noncoding	Benign
2	17764976	A	G	A17764976G	GEN1	NM_001130009.3(GEN1):c.428A>G:p.Asn143Ser	coding	Benign
2	17765180	C	T	C17765180T	GEN1	NM_001130009.3(GEN1):c.525+107C>T	noncoding	Benign
2	17766481	A	G	A17766481G	GEN1	NM_001130009.3(GEN1):c.526-98A>G	noncoding	Benign
2	17766619	G	A	G17766619A	GEN1	NM_001130009.3(GEN1):c.566G>A:p.Ser189Asn	coding	Benign
2	17766660	A	G	A17766660G	GEN1	NM_001130009.3(GEN1):c.607A>G:p.Ile203Val	coding	Benign
2	17766767	A	G	A17766767G	GEN1	NM_001130009.3(GEN1):c.636+78A>G	noncoding	Benign
2	17766948	A	G	A17766948G	GEN1	NM_001130009.3(GEN1):c.636+259A>G	noncoding	Benign
2	17769015	T	C	T17769015C	GEN1	NM_001130009.3(GEN1):c.710+204T>C	noncoding	Benign
2	17772381	A	T	A17772381T	GEN1	NM_001130009.3(GEN1):c.803-253A>T	noncoding	Benign
2	17772760	G	A	G17772760A	GEN1	NM_001130009.3(GEN1):c.929G>A:p.Ser310Asn	coding	Benign
2	17772873	A	G	A17772873G	GEN1	NM_001130009.3(GEN1):c.953+89A>G	noncoding	Benign
2	17773130	G	A	G17773130A	GEN1	NM_001130009.3(GEN1):c.988G>A:p.Glu330Lys	coding	Benign
2	17773154	C	G	C17773154G	GEN1	NM_001130009.3(GEN1):c.990+22C>G	noncoding	Benign
2	17773380	T	G	T17773380G	GEN1	NM_001130009.3(GEN1):c.1071+81T>G	noncoding	Benign
2	17773985	G	A	G17773985A	GEN1	NM_001130009.3(GEN1):c.1072-286G>A	noncoding	Benign
2	17773988	G	A	G17773988A	GEN1	NM_001130009.3(GEN1):c.1072-283G>A	noncoding	Benign
2	17774037	G	A	G17774037A	GEN1	NM_001130009.3(GEN1):c.1072-234G>A	noncoding	Benign
2	17777832	T	G	T17777832G	GEN1	NM_001130009.3(GEN1):c.1203-170T>G	noncoding	Benign
2	17778176	A	G	A17778176G	GEN1	NM_001130009.3(GEN1):c.1264+113A>G	noncoding	Benign
2	17778187	T	C	T17778187C	GEN1	NM_001130009.3(GEN1):c.1264+124T>C	noncoding	Benign
2	17780054	A	G	A17780054G	GEN1	NM_001130009.3(GEN1):c.1341A>G:p.Ala447=	coding	Benign
2	17780850	T	A	T17780850A	GEN1	NM_001130009.3(GEN1):c.1638T>A:p.Ser546=	coding	Benign
2	17781183	A	G	A17781183G	GEN1	NM_001130009.3(GEN1):c.1971A>G:p.Glu657=	coding	Benign
2	17781251	C	T	C17781251T	GEN1	NM_001130009.3(GEN1):c.2039C>T:p.Thr680Ile	coding	Benign
2	17781647	A	G	A17781647G	GEN1	NM_001130009.3(GEN1):c.2435A>G:p.Lys812Arg	coding	Benign
2	17781657	C	T	C17781657T	GEN1	NM_001130009.3(GEN1):c.2445C>T:p.Tyr815=	coding	Benign
2	17781661	A	G	A17781661G	GEN1	NM_001130009.3(GEN1):c.2449A>G:p.Thr817Ala	coding	Benign
2	17781831	T	G	T17781831G	GEN1	NM_001130009.3(GEN1):c.2619T>G:p.Ser873Arg	coding	Benign/Likely_benign
2	17781856	A	G	A17781856G	GEN1	NM_001130009.3(GEN1):c.2644A>G:p.Lys882Glu	coding	Benign
2	17781864	A	C	A17781864C	GEN1	NM_001130009.3(GEN1):c.2652A>C:p.Glu884Asp	coding	Benign
2	17781904	C	T	C17781904T	GEN1	NM_001130009.3(GEN1):c.2692C>T:p.Arg898Cys	coding	Benign
2	19352628	T	C	T19352628C	OSR1	NM_145260.3(OSR1):c.666-218A>G	noncoding	Benign
2	19353152	C	T	C19353152T	OSR1	NM_145260.3(OSR1):c.654G>A:p.Leu218=	coding	Benign
2	19931257	G	A	G19931257A	WDR35	NM_020779.4(WDR35):c.2964+12C>T	noncoding	Benign/Likely_benign
2	19932226	T	C	T19932226C	WDR35	NM_020779.4(WDR35):c.2823+57A>G	noncoding	Benign
2	19933248	C	T	C19933248T	WDR35	NM_020779.4(WDR35):c.2658+153G>A	noncoding	Benign
2	19933352	A	C	A19933352C	WDR35	NM_020779.4(WDR35):c.2658+49T>G	noncoding	Benign
2	19933585	C	T	C19933585T	WDR35	NM_020779.4(WDR35):c.2548-74G>A	noncoding	Benign
2	19933712	G	C	G19933712C	WDR35	NM_020779.4(WDR35):c.2548-201C>G	noncoding	Benign
2	19935789	A	T	A19935789T	WDR35	NM_020779.4(WDR35):c.2415-186T>A	noncoding	Benign
2	19935977	G	A	G19935977A	WDR35	NM_020779.4(WDR35):c.2414+242C>T	noncoding	Benign
2	19936199	G	A	G19936199A	WDR35	NM_020779.4(WDR35):c.2414+20C>T	noncoding	Benign/Likely_benign
2	19936531	G	A	G19936531A	WDR35	NM_020779.4(WDR35):c.2268-166C>T	noncoding	Benign
2	19937485	T	C	T19937485C	WDR35	NM_020779.4(WDR35):c.2267+258A>G	noncoding	Benign
2	19938103	T	C	T19938103C	WDR35	NM_020779.4(WDR35):c.2064-157A>G	noncoding	Benign
2	19942031	T	C	T19942031C	WDR35	NM_020779.4(WDR35):c.1846-192A>G	noncoding	Benign
2	19945770	C	T	C19945770T	WDR35	NM_020779.4(WDR35):c.1845+16G>A	noncoding	Benign
2	19945887	G	A	G19945887A	WDR35	NM_020779.4(WDR35):c.1744C>T:p.Arg582Ter	coding	Pathogenic
2	19945941	G	A	G19945941A	WDR35	NM_020779.4(WDR35):c.1690C>T:p.Arg564Ter	coding	Pathogenic/Likely_pathogenic
2	19947996	G	A	G19947996A	WDR35	NM_020779.4(WDR35):c.1524+168C>T	noncoding	Benign
2	19948073	G	A	G19948073A	WDR35	NM_020779.4(WDR35):c.1524+91C>T	noncoding	Benign
2	19948153	G	T	G19948153T	WDR35	NM_020779.4(WDR35):c.1524+11C>A	noncoding	Benign/Likely_benign
2	19951499	A	C	A19951499C	WDR35	NM_020779.4(WDR35):c.1401-15T>G	noncoding	Benign
2	19951787	T	C	T19951787C	WDR35	NM_020779.4(WDR35):c.1401-303A>G	noncoding	Benign
2	19952355	C	T	C19952355T	WDR35	NM_020779.4(WDR35):c.1401-871G>A	noncoding	Benign
2	19953800	T	G	T19953800G	WDR35	NM_020779.4(WDR35):c.1400+34A>C	noncoding	Benign
2	19953833	C	A	C19953833A	WDR35	NM_020779.4(WDR35):c.1400+1G>T	noncoding	Pathogenic
2	19954032	T	C	T19954032C	WDR35	NM_020779.4(WDR35):c.1256-54A>G	noncoding	Benign
2	19954279	A	T	A19954279T	WDR35	NM_020779.4(WDR35):c.1256-301T>A	noncoding	Benign
2	19960448	G	A	G19960448A	WDR35	NM_020779.4(WDR35):c.1255+106C>T	noncoding	Benign
2	19960489	G	C	G19960489C	WDR35	NM_020779.4(WDR35):c.1255+65C>G	noncoding	Benign
2	19966450	T	C	T19966450C	WDR35	NM_020779.4(WDR35):c.1194+274A>G	noncoding	Benign
2	19966517	A	G	A19966517G	WDR35	NM_020779.4(WDR35):c.1194+207T>C	noncoding	Benign
2	19967204	A	G	A19967204G	WDR35	NM_020779.4(WDR35):c.1009-295T>C	noncoding	Benign
2	19969178	G	C	G19969178C	WDR35	NM_020779.4(WDR35):c.1008+302C>G	noncoding	Benign
2	19969371	T	A	T19969371A	WDR35	NM_020779.4(WDR35):c.1008+109A>T	noncoding	Benign
2	19973494	A	C	A19973494C	WDR35	NM_020779.4(WDR35):c.882+69T>G	noncoding	Benign
2	19973684	A	G	A19973684G	WDR35	NM_020779.4(WDR35):c.761T>C:p.Met254Thr	coding	Benign/Likely_benign
2	19975529	C	G	C19975529G	WDR35	NM_020779.4(WDR35):c.570+1G>C	noncoding	Pathogenic
2	19982471	C	T	C19982471T	WDR35	NM_020779.4(WDR35):c.206G>A:p.Gly69Asp	coding	Pathogenic
2	19989004	C	T	C19989004T	WDR35	NM_020779.4(WDR35):c.142+161G>A	noncoding	Benign
2	19989171	G	A	G19989171A	WDR35	NM_020779.4(WDR35):c.136C>T:p.Gln46Ter	coding	Pathogenic
2	19989518	A	G	A19989518G	WDR35	NM_020779.4(WDR35):c.25-236T>C	noncoding	Benign
2	19989537	T	C	T19989537C	WDR35	NM_020779.4(WDR35):c.25-255A>G	noncoding	Benign
2	19994065	A	G	A19994065G	MATN3	NM_002381.5(MATN3):c.1405+234T>C	noncoding	Benign
2	19994324	C	T	C19994324T	MATN3	NM_002381.5(MATN3):c.1380G>A:p.Ser460=	coding	Benign
2	19994425	G	A	G19994425A	MATN3	NM_002381.5(MATN3):c.1295-16C>T	noncoding	Benign
2	20001697	G	A	G20001697A	MATN3	NM_002381.5(MATN3):c.1042+258C>T	noncoding	Benign
2	20002161	T	C	T20002161C	MATN3	NM_002381.5(MATN3):c.917-81A>G	noncoding	Benign
2	20002977	T	C	T20002977C	MATN3	NM_002381.5(MATN3):c.916+184A>G	noncoding	Benign
2	20003050	A	G	A20003050G	MATN3	NM_002381.5(MATN3):c.916+111T>C	noncoding	Benign
2	20003192	G	A	G20003192A	MATN3	NM_002381.5(MATN3):c.885C>T:p.Tyr295=	coding	Benign
2	20003439	T	C	T20003439C	MATN3	NM_002381.5(MATN3):c.791-153A>G	noncoding	Benign
2	20005851	G	A	G20005851A	MATN3	NM_002381.5(MATN3):c.683C>T:p.Ala228Val	coding	Benign
2	20005871	G	A	G20005871A	MATN3	NM_002381.5(MATN3):c.663C>T:p.Gly221=	coding	Benign
2	20012707	G	T	G20012707T	MATN3	NM_002381.4(MATN3):c.-76C>A	noncoding	Benign/Likely_benign
2	20012886	A	G	A20012886G	MATN3	Single_allele	noncoding	Benign
2	20446871	G	A	G20446871A	RHOB	Single_allele	noncoding	Benign
2	21005538	G	T	G21005538T	APOB	NM_000384.3(APOB):c.11330C>A:p.Ser3777Ter	coding	Pathogenic
2	21006541	C	A	C21006541A	APOB	NM_000384.3(APOB):c.10327G>T:p.Glu3443Ter	coding	Pathogenic
2	21006686	C	A	C21006686A	APOB	NM_000384.3(APOB):c.10182G>T:p.Lys3394Asn	coding	Pathogenic/Likely_pathogenic
2	21007547	G	A	G21007547A	APOB	NM_000384.3(APOB):c.9321C>T:p.Asn3107=	coding	Benign/Likely_benign
2	21009164	A	C	A21009164C	APOB	NM_000384.3(APOB):c.7704T>G:p.Tyr2568Ter	coding	Pathogenic
2	21009169	G	A	G21009169A	APOB	NM_000384.3(APOB):c.7699C>T:p.Gln2567Ter	coding	Pathogenic
2	21009379	G	A	G21009379A	APOB	NM_000384.3(APOB):c.7489C>T:p.Gln2497Ter	coding	Pathogenic
2	21009931	T	C	T21009931C	APOB	NM_000384.3(APOB):c.6937A>G:p.Ile2313Val	coding	Benign
2	21009932	G	A	G21009932A	APOB	NM_000384.3(APOB):c.6936C>T:p.Asp2312=	coding	Benign
2	21010330	G	A	G21010330A	APOB	NM_000384.3(APOB):c.6538C>T:p.Gln2180Ter	coding	Pathogenic
2	21010687	C	A	C21010687A	APOB	NM_000384.3(APOB):c.6181G>T:p.Asp2061Tyr	coding	Pathogenic
2	21013610	A	G	A21013610G	APOB	NM_000384.3(APOB):c.3843-77T>C	noncoding	Benign
2	21014446	A	G	A21014446G	APOB	NM_000384.3(APOB):c.3842+2T>C	noncoding	Pathogenic
2	21014512	C	A	C21014512A	APOB	NM_000384.3(APOB):c.3778G>T:p.Glu1260Ter	coding	Pathogenic
2	21015258	C	A	C21015258A	APOB	NM_000384.3(APOB):c.3511G>T:p.Glu1171Ter	coding	Pathogenic
2	21019743	A	T	A21019743T	APOB	NM_000384.3(APOB):c.2979T>A:p.Tyr993Ter	coding	Pathogenic
2	21027808	C	T	C21027808T	APOB	NM_000384.3(APOB):c.2067+20G>A	noncoding	Benign
2	21027897	G	T	G21027897T	APOB	NM_000384.3(APOB):c.1998C>A:p.Tyr666Ter	coding	Pathogenic
2	21028484	G	A	G21028484A	APOB	NM_000384.3(APOB):c.1672C>T:p.Arg558Ter	coding	Pathogenic
2	21029803	A	G	A21029803G	APOB	NM_000384.3(APOB):c.1471-18T>C	noncoding	Benign
2	21029900	G	A	G21029900A	APOB	NM_000384.3(APOB):c.1468C>T:p.Arg490Trp	coding	Pathogenic
2	21032391	G	A	G21032391A	APOB	NM_000384.3(APOB):c.1315C>T:p.Arg439Ter	coding	Pathogenic
2	21032448	C	A	C21032448A	APOB	NM_000384.3(APOB):c.1258G>T:p.Glu420Ter	coding	Pathogenic
2	21033281	G	A	G21033281A	APOB	NM_000384.3(APOB):c.1124+18C>T	noncoding	Benign
2	21033435	G	A	G21033435A	APOB	NM_000384.3(APOB):c.988C>T:p.Gln330Ter	coding	Pathogenic
2	21034814	A	G	A21034814G	APOB	NM_000384.3(APOB):c.904+2T>C	noncoding	Pathogenic
2	21035577	G	A	G21035577A	APOB	NM_000384.3(APOB):c.818+7C>T	noncoding	Benign
2	21036740	A	G	A21036740G	APOB	NM_000384.3(APOB):c.693+360T>C	noncoding	Benign
2	21037152	C	T	C21037152T	APOB	NM_000384.3(APOB):c.641G>A:p.Arg214His	coding	Benign/Likely_benign
2	21037957	C	A	C21037957A	APOB	NM_000384.3(APOB):c.537+1G>T	noncoding	Pathogenic
2	21042269	C	A	C21042269A	APOB	NM_000384.3(APOB):c.237+92G>T	noncoding	Benign
2	21042430	A	G	A21042430G	APOB	NM_000384.3(APOB):c.168T>C:p.Tyr56=	coding	Benign/Likely_benign
2	23926569	G	A	G23926569A	ATAD2B	NM_017552.4(ATAD2B):c.202C>T:p.Leu68=	coding	Benign
2	24203569	C	G	C24203569G	ITSN2	NM_006277.3(ITSN2):c.*57G>C	noncoding	Benign
2	24208315	C	T	C24208315T	ITSN2	NM_006277.3(ITSN2):c.4600G>A:p.Ala1534Thr	coding	Benign
2	24209269	C	T	C24209269T	ITSN2	NM_006277.3(ITSN2):c.4474-48G>A	noncoding	Benign
2	24209342	C	T	C24209342T	ITSN2	NM_006277.3(ITSN2):c.4474-121G>A	noncoding	Benign
2	24209751	A	G	A24209751G	ITSN2	NM_006277.3(ITSN2):c.4473+67T>C	noncoding	Benign
2	24209798	C	G	C24209798G	ITSN2	NM_006277.3(ITSN2):c.4473+20G>C	noncoding	Benign
2	24209970	A	G	A24209970G	ITSN2	NM_006277.3(ITSN2):c.4321T>C:p.Leu1441=	coding	Benign
2	24210068	C	T	C24210068T	ITSN2	NM_006277.3(ITSN2):c.4258-35G>A	noncoding	Benign
2	24216179	A	G	A24216179G	ITSN2	NM_006277.3(ITSN2):c.3860T>C:p.Ile1287Thr	coding	Benign
2	24216407	G	C	G24216407C	ITSN2	NM_006277.3(ITSN2):c.3807-175C>G	noncoding	Benign
2	24218128	A	T	A24218128T	ITSN2	NM_006277.3(ITSN2):c.3700-115T>A	noncoding	Benign
2	24248605	T	C	T24248605C	ITSN2	NM_006277.3(ITSN2):c.3288+24A>G	noncoding	Benign
2	24252336	T	C	T24252336C	ITSN2	NM_006277.3(ITSN2):c.3120+9A>G	noncoding	Benign
2	24261281	T	C	T24261281C	ITSN2	NM_006277.3(ITSN2):c.2538-31A>G	noncoding	Benign
2	24275970	T	G	T24275970G	ITSN2	NM_006277.3(ITSN2):c.1945-121A>C	noncoding	Benign
2	24286501	T	C	T24286501C	ITSN2	NM_006277.3(ITSN2):c.1724-150A>G	noncoding	Benign
2	24295927	C	T	C24295927T	ITSN2	NM_006277.3(ITSN2):c.1495-123G>A	noncoding	Benign
2	24298624	C	T	C24298624T	ITSN2	NM_006277.3(ITSN2):c.1494+41G>A	noncoding	Benign
2	24298897	C	T	C24298897T	ITSN2	NM_006277.3(ITSN2):c.1345-83G>A	noncoding	Benign
2	24301856	A	G	A24301856G	ITSN2	NM_006277.3(ITSN2):c.995+109T>C	noncoding	Benign
2	24302089	C	T	C24302089T	ITSN2	NM_006277.3(ITSN2):c.871G>A:p.Val291Ile	coding	Benign
2	24308418	T	G	T24308418G	ITSN2	NM_006277.3(ITSN2):c.793+199A>C	noncoding	Benign
2	24790654	G	C	G24790654C	PTRHD1	NM_001013663.2(PTRHD1):c.253-73C>G	noncoding	Benign
2	24819977	A	G	A24819977G	ADCY3	NM_004036.5(ADCY3):c.3390T>C:p.Asn1130=	coding	Benign
2	24821505	G	A	G24821505A	ADCY3	NM_004036.5(ADCY3):c.3127+12C>T	coding	Benign
2	24823221	T	C	T24823221C	ADCY3	NM_004036.5(ADCY3):c.2871A>G:p.Ser957=	coding	Benign
2	24824539	A	G	A24824539G	ADCY3	NM_004036.5(ADCY3):c.2578-3T>C	noncoding	Benign
2	24826093	C	T	C24826093T	ADCY3	NM_004036.5(ADCY3):c.2529G>A:p.Thr843=	coding	Benign
2	24828108	T	C	T24828108C	ADCY3	NM_004036.5(ADCY3):c.2226A>G:p.Glu742=	coding	Benign
2	24839887	G	A	G24839887A	ADCY3	NM_004036.5(ADCY3):c.1341C>T:p.Ala447=	coding	Benign
2	24841288	G	C	G24841288C	ADCY3	NM_004036.5(ADCY3):c.1167C>G:p.Leu389=	coding	Benign
2	24841324	G	A	G24841324A	ADCY3	NM_004036.5(ADCY3):c.1131C>T:p.Pro377=	coding	Benign
2	24842235	G	A	G24842235A	ADCY3	NM_004036.5(ADCY3):c.956+19C>T	noncoding	Benign
2	24872629	G	A	G24872629A	ADCY3	NM_004036.5(ADCY3):c.766C>T:p.Leu256=	coding	Benign
2	24906604	A	G	A24906604G	ADCY3	NM_004036.5(ADCY3):c.675+11709T>C	noncoding	Benign
2	24918382	C	T	C24918382T	ADCY3	NM_004036.5(ADCY3):c.606G>A:p.Thr202=	coding	Benign
2	24918406	G	A	G24918406A	ADCY3	NM_004036.5(ADCY3):c.582C>T:p.Ser194=	coding	Benign
2	24918565	G	A	G24918565A	ADCY3	NM_004036.5(ADCY3):c.423C>T:p.Tyr141=	coding	Benign
2	24918669	A	G	A24918669G	ADCY3	NM_004036.5(ADCY3):c.319T>C:p.Ser107Pro	coding	Benign
2	25161836	T	C	T25161836C	POMC	NM_000939.4(POMC):c.133-84A>G	noncoding	Benign
2	25161964	T	C	T25161964C	POMC	NM_000939.4(POMC):c.133-212A>G	noncoding	Benign
2	25164312	T	G	T25164312G	POMC	NM_000939.4(POMC):c.132+329A>C	noncoding	Benign
2	25168497	C	T	C25168497T	POMC	NM_000939.4(POMC):c.-21+1G>A	noncoding	Pathogenic
2	25234292	A	G	A25234292G	DNMT3A	NM_022552.5(DNMT3A):c.2726T>C:p.Phe909Ser	coding	Pathogenic
2	25235510	G	A	G25235510A	DNMT3A	NM_022552.5(DNMT3A):c.2597+197C>T	noncoding	Benign
2	25235677	C	T	C25235677T	DNMT3A	NM_022552.5(DNMT3A):c.2597+30G>A	noncoding	Benign
2	25235984	A	G	A25235984G	DNMT3A	NM_022552.5(DNMT3A):c.2479-159T>C	noncoding	Benign
2	25236935	C	T	C25236935T	DNMT3A	NM_022552.5(DNMT3A):c.2478+1G>A	noncoding	Pathogenic
2	25239458	C	G	C25239458G	DNMT3A	NM_022552.5(DNMT3A):c.2323-243G>C	noncoding	Benign
2	25240119	G	A	G25240119A	DNMT3A	NM_022552.5(DNMT3A):c.2322+183C>T	noncoding	Benign
2	25240301	C	T	C25240301T	DNMT3A	NM_022552.5(DNMT3A):c.2322+1G>A	noncoding	Pathogenic
2	25240417	C	T	C25240417T	DNMT3A	NM_022552.5(DNMT3A):c.2207G>A:p.Arg736His	coding	Pathogenic
2	25240614	G	A	G25240614A	DNMT3A	NM_022552.5(DNMT3A):c.2173+26C>T	noncoding	Benign
2	25241002	C	T	C25241002T	DNMT3A	NM_022552.5(DNMT3A):c.2083-272G>A	noncoding	Benign
2	25244019	G	T	G25244019T	DNMT3A	NM_022552.5(DNMT3A):c.1852-37C>A	noncoding	Benign
2	25244214	G	A	G25244214A	DNMT3A	NM_022552.5(DNMT3A):c.1792C>T:p.Arg598Ter	coding	Pathogenic/Likely_pathogenic
2	25244249	C	A	C25244249A	DNMT3A	NM_022552.5(DNMT3A):c.1757G>T:p.Cys586Phe	coding	Pathogenic
2	25244329	G	A	G25244329A	DNMT3A	NM_022552.5(DNMT3A):c.1677C>T:p.Cys559=	coding	Benign/Likely_benign
2	25244560	G	T	G25244560T	DNMT3A	NM_022552.5(DNMT3A):c.1647C>A:p.Cys549Ter	coding	Pathogenic
2	25244653	C	A	C25244653A	DNMT3A	NM_022552.5(DNMT3A):c.1555-1G>T	coding	Pathogenic
2	25244653	C	T	C25244653T	DNMT3A	NM_022552.5(DNMT3A):c.1555-1G>A	coding	Pathogenic
2	25244998	T	A	T25244998A	DNMT3A	NM_022552.5(DNMT3A):c.1554+255A>T	noncoding	Benign
2	25246051	G	A	G25246051A	DNMT3A	NM_022552.5(DNMT3A):c.1443C>T:p.Tyr481=	coding	Benign
2	25246077	G	A	G25246077A	DNMT3A	NM_022552.5(DNMT3A):c.1430-13C>T	noncoding	Benign
2	25246602	C	T	C25246602T	DNMT3A	NM_022552.5(DNMT3A):c.1279+18G>A	noncoding	Benign/Likely_benign
2	25246633	C	T	C25246633T	DNMT3A	NM_022552.5(DNMT3A):c.1266G>A:p.Leu422=	coding	Benign
2	25246656	G	A	G25246656A	DNMT3A	NM_022552.5(DNMT3A):c.1243C>T:p.Gln415Ter	coding	Pathogenic
2	25247044	C	T	C25247044T	DNMT3A	NM_022552.5(DNMT3A):c.1122+7G>A	noncoding	Benign
2	25247601	T	C	T25247601C	DNMT3A	NM_022552.5(DNMT3A):c.1004A>G:p.Lys335Arg	coding	Pathogenic/Likely_pathogenic
2	25247688	C	T	C25247688T	DNMT3A	NM_022552.5(DNMT3A):c.917G>A:p.Trp306Ter	coding	Pathogenic
2	25247759	C	T	C25247759T	DNMT3A	NM_022552.5(DNMT3A):c.856-10G>A	noncoding	Pathogenic
2	25249915	C	T	C25249915T	DNMT3A	NM_022552.5(DNMT3A):c.640-1663G>A	noncoding	Benign
2	25274935	C	T	C25274935T	DNMT3A	NM_022552.5(DNMT3A):c.639+6G>A	noncoding	Benign
2	25275696	C	G	C25275696G	DNMT3A	NM_022552.5(DNMT3A):c.449-153G>C	noncoding	Benign
2	25282323	C	G	C25282323G	DNMT3A	NM_022552.5(DNMT3A):c.448+118G>C	coding	Benign
2	25282924	T	C	T25282924C	DNMT3A	NM_022552.5(DNMT3A):c.178-213A>G	noncoding	Benign
2	25299926	G	A	G25299926A	DNMT3A	NM_022552.5(DNMT3A):c.177+213C>T	noncoding	Benign
2	25300327	T	C	T25300327C	DNMT3A	NM_022552.5(DNMT3A):c.73-84A>G	noncoding	Benign
2	25313958	G	A	G25313958A	DNMT3A	NM_022552.5(DNMT3A):c.27C>T:p.Pro9=	coding	Benign
2	25313990	C	T	C25313990T	DNMT3A	NM_022552.5(DNMT3A):c.-6G>A	noncoding	Benign
2	25743158	T	C	T25743158C	ASXL2	NM_018263.6(ASXL2):c.3179A>G:p.Lys1060Arg	coding	Benign
2	25743216	C	G	C25743216G	ASXL2	NM_018263.6(ASXL2):c.3121G>C:p.Ala1041Pro	coding	Benign
2	25743379	C	T	C25743379T	ASXL2	NM_018263.6(ASXL2):c.2958G>A:p.Glu986=	coding	Benign
2	25743852	G	A	G25743852A	ASXL2	NM_018263.6(ASXL2):c.2485C>T:p.Gln829Ter	coding	Pathogenic
2	25743994	T	A	T25743994A	ASXL2	NM_018263.6(ASXL2):c.2343A>T:p.Pro781=	coding	Benign
2	25744474	G	T	G25744474T	ASXL2	NM_018263.6(ASXL2):c.1863C>A:p.Ile621=	coding	Benign
2	25744487	T	C	T25744487C	ASXL2	NM_018263.6(ASXL2):c.1861-11A>G	noncoding	Benign
2	25750191	C	T	C25750191T	ASXL2	NM_018263.6(ASXL2):c.1365G>A:p.Pro455=	coding	Benign
2	25750218	C	T	C25750218T	ASXL2	NM_018263.6(ASXL2):c.1338G>A:p.Glu446=	coding	Benign
2	25756128	T	C	T25756128C	ASXL2	NM_018263.6(ASXL2):c.940-14A>G	noncoding	Benign
2	25759599	C	T	C25759599T	ASXL2	NM_018263.6(ASXL2):c.822G>A:p.Pro274=	coding	Benign
2	25767741	T	A	T25767741A	ASXL2	NM_018263.6(ASXL2):c.632-15A>T	noncoding	Benign
2	25767743	C	A	C25767743A	ASXL2	NM_018263.6(ASXL2):c.632-17G>T	noncoding	Benign
2	25771524	C	T	C25771524T	ASXL2	NM_018263.6(ASXL2):c.420G>A:p.Pro140=	coding	Benign
2	25799408	T	C	T25799408C	ASXL2	NM_018263.6(ASXL2):c.380A>G:p.Lys127Arg	coding	Benign
2	25845310	T	C	T25845310C	ASXL2	NM_018263.6(ASXL2):c.140+171A>G	noncoding	Benign
2	26191334	A	T	A26191334T	HADHA	NM_000182.5(HADHA):c.2208T>A:p.Tyr736Ter	coding	Pathogenic
2	26191342	T	A	T26191342A	HADHA	NM_000182.5(HADHA):c.2200A>T:p.Lys734Ter	coding	Pathogenic
2	26191465	C	T	C26191465T	HADHA	NM_000182.5(HADHA):c.2146+18G>A	noncoding	Benign/Likely_benign
2	26191609	G	A	G26191609A	HADHA	NM_000182.5(HADHA):c.2020C>T:p.Gln674Ter	coding	Pathogenic
2	26192224	A	C	A26192224C	HADHA	NM_000182.5(HADHA):c.2000+86T>G	noncoding	Benign
2	26192239	A	C	A26192239C	HADHA	NM_000182.5(HADHA):c.2000+71T>G	noncoding	Benign
2	26192558	G	A	G26192558A	HADHA	NM_000182.5(HADHA):c.1886-134C>T	noncoding	Benign
2	26193288	G	T	G26193288T	HADHA	NM_000182.5(HADHA):c.1885+289C>A	noncoding	Benign
2	26193619	T	C	T26193619C	HADHA	NM_000182.5(HADHA):c.1843A>G:p.Asn615Asp	coding	Benign
2	26193784	G	A	G26193784A	HADHA	NM_000182.5(HADHA):c.1690-12C>T	noncoding	Benign
2	26193786	G	A	G26193786A	HADHA	NM_000182.5(HADHA):c.1690-14C>T	noncoding	Benign/Likely_benign
2	26194031	G	T	G26194031T	HADHA	NM_000182.5(HADHA):c.1690-259C>A	noncoding	Benign
2	26194664	C	A	C26194664A	HADHA	NM_000182.5(HADHA):c.1621-26G>T	noncoding	Benign
2	26197916	A	C	A26197916C	HADHA	NM_000182.5(HADHA):c.1393-139T>G	noncoding	Benign
2	26204078	G	A	G26204078A	HADHA	NM_000182.5(HADHA):c.1204C>T:p.Gln402Ter	coding	Pathogenic
2	26204150	G	A	G26204150A	HADHA	NM_000182.5(HADHA):c.1132C>T:p.Gln378Ter	coding	Pathogenic/Likely_pathogenic
2	26214441	A	T	A26214441T	HADHA	NM_000182.5(HADHA):c.918+2T>A	noncoding	Pathogenic
2	26214447	A	T	A26214447T	HADHA	NM_000182.5(HADHA):c.914T>A:p.Ile305Asn	coding	Pathogenic
2	26230627	T	C	T26230627C	HADHA	NM_000182.5(HADHA):c.574-333A>G	noncoding	Benign
2	26232128	A	G	A26232128G	HADHA	NM_000182.5(HADHA):c.573+32T>C	noncoding	Benign
2	26232134	C	G	C26232134G	HADHA	NM_000182.5(HADHA):c.573+26G>C	noncoding	Benign
2	26232166	G	A	G26232166A	HADHA	NM_000182.5(HADHA):c.567C>T:p.Pro189=	coding	Benign
2	26232177	G	A	G26232177A	HADHA	NM_000182.5(HADHA):c.556C>T:p.Gln186Ter	coding	Pathogenic
2	26234356	C	T	C26234356T	HADHA	NM_000182.5(HADHA):c.315-1G>A	coding	Pathogenic/Likely_pathogenic
2	26234399	T	G	T26234399G	HADHA	NM_000182.5(HADHA):c.315-44A>C	noncoding	Benign
2	26237090	G	A	G26237090A	HADHA	NM_000182.5(HADHA):c.181-102C>T	noncoding	Benign
2	26238933	C	T	C26238933T	HADHA	NM_000182.5(HADHA):c.180+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	26239225	A	T	A26239225T	HADHA	NM_000182.5(HADHA):c.68-82T>A	noncoding	Benign
2	26244513	C	G	C26244513G	HADHA	NM_000182.5(HADHA):c.67+17G>C	noncoding	Benign/Likely_benign
2	26244785	C	T	C26244785T	HADHA;HADHB	NM_000183.2(HADHB):c.-214C>T	noncoding	Benign/Likely_benign
2	26245265	T	G	T26245265G	HADHB	NM_000183.3(HADHB):c.-9+275T>G	noncoding	Benign
2	26254329	T	C	T26254329C	HADHB	NM_000183.3(HADHB):c.64+11T>C	noncoding	Benign/Likely_benign
2	26254462	C	T	C26254462T	HADHB	NM_000183.3(HADHB):c.97C>T:p.Arg33Ter	coding	Pathogenic
2	26261257	A	G	A26261257G	HADHB	NM_000183.3(HADHB):c.110-2123A>G	noncoding	Benign
2	26269952	G	T	G26269952T	HADHB	NM_000183.3(HADHB):c.210-1G>T	noncoding	Pathogenic/Likely_pathogenic
2	26273556	C	T	C26273556T	HADHB	NM_000183.3(HADHB):c.255-95C>T	noncoding	Benign
2	26279085	C	A	C26279085A	HADHB	NM_000183.3(HADHB):c.631-50C>A	noncoding	Benign
2	26279134	G	A	G26279134A	HADHB	NM_000183.3(HADHB):c.631-1G>A	noncoding	Pathogenic
2	26279150	G	T	G26279150T	HADHB	NM_000183.3(HADHB):c.646G>T:p.Glu216Ter	coding	Pathogenic
2	26279900	C	T	C26279900T	HADHB	NM_000183.3(HADHB):c.812-94C>T	noncoding	Benign
2	26284856	T	C	T26284856C	HADHB	NM_000183.3(HADHB):c.1150-27T>C	noncoding	Benign
2	26284898	A	G	A26284898G	HADHB	NM_000183.3(HADHB):c.1165A>G:p.Asn389Asp	coding	Pathogenic
2	26285319	A	G	A26285319G	HADHB	NM_000183.3(HADHB):c.1225-88A>G	noncoding	Benign
2	26289865	T	C	T26289865C	HADHB	NM_000183.3(HADHB):c.1390-53T>C	noncoding	Benign
2	26367216	T	G	T26367216G	SELENOI	NM_033505.4(SELENOI):c.306T>G:p.Thr102=	coding	Benign
2	26367250	C	T	C26367250T	SELENOI	NM_033505.4(SELENOI):c.310+30C>T	noncoding	Benign
2	26383286	T	C	T26383286C	SELENOI	NM_033505.4(SELENOI):c.683-13T>C	noncoding	Benign
2	26383479	T	A	T26383479A	SELENOI	NM_033505.4(SELENOI):c.731+132T>A	noncoding	Benign
2	26384758	C	G	C26384758G	SELENOI	NM_033505.4(SELENOI):c.732-201C>G	noncoding	Benign
2	26384947	T	C	T26384947C	SELENOI	NM_033505.4(SELENOI):c.732-12T>C	noncoding	Benign
2	26385124	T	C	T26385124C	SELENOI	NM_033505.4(SELENOI):c.897T>C:p.Ala299=	coding	Benign
2	26386336	T	G	T26386336G	SELENOI	NM_033505.4(SELENOI):c.913-18T>G	noncoding	Benign
2	26386601	G	A	G26386601A	SELENOI	NM_033505.4(SELENOI):c.1095+65G>A	noncoding	Benign
2	26401879	C	A	C26401879A	DRC1	Single_allele	noncoding	Benign
2	26401975	C	T	C26401975T	DRC1	NM_145038.5(DRC1):c.-15C>T	noncoding	Benign
2	26402174	C	A	C26402174A	DRC1	NM_145038.5(DRC1):c.155+30C>A	noncoding	Benign
2	26414110	G	T	G26414110T	DRC1	NM_145038.5(DRC1):c.156-234G>T	noncoding	Benign
2	26414200	C	T	C26414200T	DRC1	NM_145038.5(DRC1):c.156-144C>T	noncoding	Benign
2	26414304	T	C	T26414304C	DRC1	NM_145038.5(DRC1):c.156-40T>C	noncoding	Benign
2	26424011	C	T	C26424011T	DRC1	NM_145038.5(DRC1):c.357-260C>T	noncoding	Benign
2	26424121	C	A	C26424121A	DRC1	NM_145038.5(DRC1):c.357-150C>A	noncoding	Benign
2	26424203	C	T	C26424203T	DRC1	NM_145038.5(DRC1):c.357-68C>T	noncoding	Benign
2	26424341	G	T	G26424341T	DRC1	NM_145038.5(DRC1):c.427G>T:p.Glu143Ter	coding	Pathogenic
2	26424466	G	A	G26424466A	DRC1	NM_145038.5(DRC1):c.540+12G>A	noncoding	Benign
2	26424661	T	C	T26424661C	DRC1	NM_145038.5(DRC1):c.540+207T>C	noncoding	Benign
2	26429803	A	G	A26429803G	DRC1	NM_145038.5(DRC1):c.678+38A>G	noncoding	Benign
2	26430509	G	A	G26430509A	DRC1	NM_145038.5(DRC1):c.679-277G>A	noncoding	Benign
2	26430589	G	A	G26430589A	DRC1	NM_145038.5(DRC1):c.679-197G>A	noncoding	Benign
2	26430839	G	A	G26430839A	DRC1	NM_145038.5(DRC1):c.732G>A:p.Trp244Ter	coding	Pathogenic
2	26431115	C	T	C26431115T	DRC1	NM_145038.5(DRC1):c.765+243C>T	noncoding	Benign
2	26431145	G	A	G26431145A	DRC1	NM_145038.5(DRC1):c.765+273G>A	noncoding	Benign
2	26440345	G	A	G26440345A	DRC1	NM_145038.5(DRC1):c.889-33G>A	noncoding	Benign
2	26440347	A	G	A26440347G	DRC1	NM_145038.5(DRC1):c.889-31A>G	noncoding	Benign
2	26440722	G	T	G26440722T	DRC1	NM_145038.5(DRC1):c.1028+205G>T	noncoding	Benign
2	26444644	C	T	C26444644T	DRC1	NM_145038.5(DRC1):c.1164-72C>T	noncoding	Benign
2	26448818	G	A	G26448818A	DRC1	NM_145038.5(DRC1):c.1509+15G>A	noncoding	Benign
2	26449826	G	A	G26449826A	DRC1	NM_145038.5(DRC1):c.1510-170G>A	noncoding	Benign
2	26449971	G	C	G26449971C	DRC1	NM_145038.5(DRC1):c.1510-25G>C	noncoding	Benign
2	26453071	G	A	G26453071A	DRC1	NM_145038.5(DRC1):c.1690-249G>A	noncoding	Benign
2	26453086	A	G	A26453086G	DRC1	NM_145038.5(DRC1):c.1690-234A>G	noncoding	Benign
2	26453376	G	C	G26453376C	DRC1	NM_145038.5(DRC1):c.1746G>C:p.Thr582=	coding	Benign
2	26453758	C	T	C26453758T	DRC1	NM_145038.5(DRC1):c.1919+209C>T	noncoding	Benign
2	26453864	A	G	A26453864G	DRC1	NM_145038.5(DRC1):c.1919+315A>G	noncoding	Benign
2	26453886	C	T	C26453886T	DRC1	NM_145038.5(DRC1):c.1919+337C>T	noncoding	Benign
2	26454427	T	G	T26454427G	DRC1	NM_145038.5(DRC1):c.1920-220T>G	noncoding	Benign
2	26454435	G	T	G26454435T	DRC1	NM_145038.5(DRC1):c.1920-212G>T	noncoding	Benign
2	26454459	G	A	G26454459A	DRC1	NM_145038.5(DRC1):c.1920-188G>A	noncoding	Benign
2	26454467	C	T	C26454467T	DRC1	NM_145038.5(DRC1):c.1920-180C>T	noncoding	Benign
2	26454861	G	A	G26454861A	DRC1	NM_145038.5(DRC1):c.2063+71G>A	noncoding	Benign
2	26454942	A	G	A26454942G	DRC1	NM_145038.5(DRC1):c.2063+152A>G	noncoding	Benign
2	26455172	G	T	G26455172T	DRC1	NM_145038.5(DRC1):c.2105G>T:p.Ser702Ile	coding	Benign
2	26455266	G	A	G26455266A	DRC1	NM_145038.5(DRC1):c.2166+33G>A	noncoding	Benign
2	26455301	G	A	G26455301A	DRC1	NM_145038.5(DRC1):c.2166+68G>A	noncoding	Benign
2	26455325	C	A	C26455325A	DRC1	NM_145038.5(DRC1):c.2166+92C>A	noncoding	Benign
2	26455429	A	G	A26455429G	DRC1	NM_145038.5(DRC1):c.2166+196A>G	noncoding	Benign
2	26456562	G	A	G26456562A	DRC1	NM_145038.5(DRC1):c.*45G>A	noncoding	Benign
2	26457866	G	A	G26457866A	OTOF	NM_194248.3(OTOF):c.*372C>T	noncoding	Benign/Likely_benign
2	26458250	C	T	C26458250T	OTOF	NM_194248.3(OTOF):c.*18-30G>A	noncoding	Benign
2	26459778	T	C	T26459778C	OTOF	NM_194248.3(OTOF):c.*17+230A>G	noncoding	Benign
2	26460028	G	A	G26460028A	OTOF	NM_194248.3(OTOF):c.5991C>T:p.Ala1997=	coding	Benign/Likely_benign
2	26461138	T	C	T26461138C	OTOF	NM_194248.3(OTOF):c.5534-108A>G	noncoding	Benign
2	26461228	T	A	T26461228A	OTOF	NM_194248.3(OTOF):c.5534-198A>T	noncoding	Benign
2	26461629	C	T	C26461629T	OTOF	NM_194248.3(OTOF):c.5533+67G>A	noncoding	Benign
2	26463233	C	T	C26463233T	OTOF	NM_194248.3(OTOF):c.5192+250G>A	noncoding	Benign
2	26464086	C	T	C26464086T	OTOF	NM_194248.3(OTOF):c.4981G>A:p.Glu1661Lys	coding	Pathogenic
2	26464947	G	T	G26464947T	OTOF	NM_194248.3(OTOF):c.4882C>A:p.Pro1628Thr	coding	Pathogenic
2	26465232	A	G	A26465232G	OTOF	NM_194248.3(OTOF):c.4800-203T>C	noncoding	Benign
2	26465454	C	T	C26465454T	OTOF	NM_194248.3(OTOF):c.4799+218G>A	noncoding	Benign
2	26465663	C	T	C26465663T	OTOF	NM_194248.3(OTOF):c.4799+9G>A	noncoding	Benign
2	26465753	A	G	A26465753G	OTOF	NM_194248.3(OTOF):c.4718T>C:p.Ile1573Thr	coding	Pathogenic
2	26465931	G	A	G26465931A	OTOF	NM_194248.3(OTOF):c.4628+18C>T	noncoding	Benign
2	26466215	G	T	G26466215T	OTOF	NM_194248.3(OTOF):c.4501-139C>A	noncoding	Benign
2	26467652	C	T	C26467652T	OTOF	NM_194248.3(OTOF):c.4091-151G>A	noncoding	Benign
2	26468156	T	C	T26468156C	OTOF	NM_194248.3(OTOF):c.4090+252A>G	noncoding	Benign
2	26468314	G	A	G26468314A	OTOF	NM_194248.3(OTOF):c.4090+94C>T	noncoding	Benign
2	26470347	T	C	T26470347C	OTOF	NM_194248.3(OTOF):c.4023+246A>G	noncoding	Benign
2	26471317	G	A	G26471317A	OTOF	NM_194248.3(OTOF):c.3865-167C>T	noncoding	Benign
2	26472275	A	G	A26472275G	OTOF	NM_194248.3(OTOF):c.3864+244T>C	noncoding	Benign
2	26472470	C	T	C26472470T	OTOF	NM_194248.3(OTOF):c.3864+49G>A	noncoding	Benign
2	26472479	A	G	A26472479G	OTOF	NM_194248.3(OTOF):c.3864+40T>C	noncoding	Benign
2	26472486	C	T	C26472486T	OTOF	NM_194248.3(OTOF):c.3864+33G>A	noncoding	Benign
2	26472662	A	G	A26472662G	OTOF	NM_194248.3(OTOF):c.3734-13T>C	noncoding	Benign/Likely_benign
2	26472821	C	T	C26472821T	OTOF	NM_194248.3(OTOF):c.3734-172G>A	noncoding	Benign
2	26473183	G	A	G26473183A	OTOF	NM_194248.3(OTOF):c.3682C>T:p.Arg1228Cys	coding	Benign
2	26474195	G	T	G26474195T	OTOF	NM_194248.3(OTOF):c.3289-85C>A	noncoding	Benign
2	26474609	G	C	G26474609C	OTOF	NM_194248.3(OTOF):c.3192C>G:p.Tyr1064Ter	coding	Pathogenic
2	26474959	C	T	C26474959T	OTOF	NM_194248.3(OTOF):c.3127-285G>A	noncoding	Benign
2	26475082	G	A	G26475082A	OTOF	NM_194248.3(OTOF):c.3126+277C>T	noncoding	Benign
2	26475151	G	C	G26475151C	OTOF	NM_194248.3(OTOF):c.3126+208C>G	noncoding	Benign
2	26475436	C	A	C26475436A	OTOF	NM_194248.3(OTOF):c.3049G>T:p.Glu1017Ter	coding	Pathogenic
2	26475920	G	T	G26475920T	OTOF	NM_194248.3(OTOF):c.2985C>A:p.Cys995Ter	coding	Pathogenic
2	26476127	C	T	C26476127T	OTOF	NM_194248.3(OTOF):c.2866+1G>A	noncoding	Pathogenic
2	26477305	G	A	G26477305A	OTOF	NM_194248.3(OTOF):c.2407-17C>T	noncoding	Benign/Likely_benign
2	26477412	T	C	T26477412C	OTOF	NM_194248.3(OTOF):c.2406+4A>G	noncoding	Pathogenic
2	26478040	C	G	C26478040G	OTOF	NM_194248.3(OTOF):c.2215-291G>C	coding	Benign
2	26479214	G	A	G26479214A	OTOF	NM_194248.3(OTOF):c.2214+50C>T	noncoding	Benign
2	26479490	C	A	C26479490A	OTOF	NM_194248.3(OTOF):c.2076G>T:p.Arg692=	coding	Benign/Likely_benign
2	26480501	A	G	A26480501G	OTOF	NM_194248.3(OTOF):c.1804-190T>C	noncoding	Benign
2	26481105	G	A	G26481105A	OTOF	NM_194248.3(OTOF):c.1580-96C>T	noncoding	Benign
2	26482387	C	T	C26482387T	OTOF	NM_194248.3(OTOF):c.1579+19G>A	noncoding	Benign/Likely_benign
2	26482659	G	T	G26482659T	OTOF	NM_194248.3(OTOF):c.1393-67C>A	noncoding	Benign
2	26483461	C	T	C26483461T	OTOF	NM_194248.3(OTOF):c.1392+1G>A	noncoding	Pathogenic
2	26483774	T	C	T26483774C	OTOF	NM_194248.3(OTOF):c.1206-126A>G	noncoding	Benign
2	26484265	A	G	A26484265G	OTOF	NM_194248.3(OTOF):c.1205+209T>C	noncoding	Benign
2	26484329	G	A	G26484329A	OTOF	NM_194248.3(OTOF):c.1205+145C>T	noncoding	Benign
2	26484881	C	T	C26484881T	OTOF	NM_194248.3(OTOF):c.1046-248G>A	noncoding	Benign
2	26488961	C	A	C26488961A	OTOF	NM_194248.3(OTOF):c.1045+250G>T	noncoding	Benign
2	26489537	G	C	G26489537C	OTOF	NM_194248.3(OTOF):c.960+141C>G	noncoding	Benign
2	26489712	G	A	G26489712A	OTOF	NM_194248.3(OTOF):c.926C>T:p.Pro309Leu	coding	Benign
2	26489842	A	G	A26489842G	OTOF	NM_194248.3(OTOF):c.898-102T>C	noncoding	Benign
2	26494773	A	G	A26494773G	OTOF	NM_194248.3(OTOF):c.897+169T>C	noncoding	Benign
2	26495311	C	T	C26495311T	OTOF	NM_194248.3(OTOF):c.766-238G>A	noncoding	Benign
2	26501574	A	G	A26501574G	OTOF	NM_194248.3(OTOF):c.765+180T>C	noncoding	Benign
2	26501857	T	G	T26501857G	OTOF	NM_194248.3(OTOF):c.711-49A>C	noncoding	Benign
2	26502177	T	C	T26502177C	OTOF	NM_194248.3(OTOF):c.710+123A>G	noncoding	Benign
2	26503884	G	A	G26503884A	OTOF	NM_194248.3(OTOF):c.510-39C>T	noncoding	Benign
2	26516136	C	T	C26516136T	OTOF	NM_194248.3(OTOF):c.509+282G>A	noncoding	Benign
2	26516379	T	A	T26516379A	OTOF	NM_194248.3(OTOF):c.509+39A>T	noncoding	Benign
2	26516763	A	G	A26516763G	OTOF	NM_194248.3(OTOF):c.328-164T>C	noncoding	Benign
2	26516912	C	T	C26516912T	OTOF	NM_194248.3(OTOF):c.328-313G>A	noncoding	Benign
2	26518940	G	T	G26518940T	OTOF	NM_194248.3(OTOF):c.327+70C>A	noncoding	Benign
2	26519125	G	A	G26519125A	OTOF	NM_194248.3(OTOF):c.228-16C>T	noncoding	Benign
2	26527552	C	G	C26527552G	OTOF	NM_194248.3(OTOF):c.227+280G>C	noncoding	Benign
2	26527689	T	C	T26527689C	OTOF	NM_194248.3(OTOF):c.227+143A>G	noncoding	Benign
2	26527777	G	A	G26527777A	OTOF	NM_194248.3(OTOF):c.227+55C>T	noncoding	Benign
2	26528108	G	A	G26528108A	OTOF	NM_194248.3(OTOF):c.139-188C>T	noncoding	Benign
2	26538055	C	T	C26538055T	OTOF	NM_194248.3(OTOF):c.80-281G>A	noncoding	Benign
2	26558243	G	A	G26558243A	OTOF	NM_194248.3(OTOF):c.79+250C>T	noncoding	Benign
2	26558379	G	C	G26558379C	OTOF	NM_194248.3(OTOF):c.79+114C>G	noncoding	Benign
2	26558496	G	A	G26558496A	OTOF	NM_194248.3(OTOF):c.76C>T:p.Arg26Ter	coding	Pathogenic
2	26558510	G	A	G26558510A	OTOF	NM_194248.3(OTOF):c.62C>T:p.Ala21Val	coding	Benign
2	26558638	C	T	C26558638T	OTOF	NM_194248.3(OTOF):c.-67G>A	noncoding	Benign/Likely_benign
2	26558897	G	A	G26558897A	OTOF	Single_allele	noncoding	Benign
2	26692756	G	T	G26692756T	KCNK3	NM_002246.3(KCNK3):c.-120G>T	noncoding	Benign
2	26693272	C	G	C26693272G	KCNK3	NM_002246.3(KCNK3):c.283+114C>G	noncoding	Benign
2	26727781	A	G	A26727781G	KCNK3	NM_002246.3(KCNK3):c.398A>G:p.Asn133Ser	coding	Pathogenic
2	26727797	C	T	C26727797T	KCNK3	NM_002246.3(KCNK3):c.414C>T:p.Tyr138=	coding	Benign
2	26728436	C	T	C26728436T	KCNK3	NM_002246.3(KCNK3):c.1053C>T:p.Gly351=	coding	Benign
2	27053133	C	T	C27053133T	AGBL5	NM_021831.6(AGBL5):c.175C>T:p.Arg59Ter	coding	Pathogenic
2	27053193	G	A	G27053193A	AGBL5	NM_021831.6(AGBL5):c.215+20G>A	noncoding	Benign
2	27053542	G	A	G27053542A	AGBL5	NM_021831.6(AGBL5):c.356G>A:p.Trp119Ter	coding	Pathogenic
2	27054016	C	T	C27054016T	AGBL5	NM_021831.6(AGBL5):c.508C>T:p.Gln170Ter	coding	Pathogenic
2	27056145	A	G	A27056145G	AGBL5	NM_021831.6(AGBL5):c.1365+7A>G	noncoding	Benign
2	27057288	G	A	G27057288A	AGBL5	NM_021831.6(AGBL5):c.1536-15G>A	noncoding	Benign
2	27058457	C	T	C27058457T	AGBL5	NM_021831.6(AGBL5):c.1729C>T:p.Arg577Ter	coding	Pathogenic
2	27067657	A	G	A27067657G	AGBL5	NM_021831.6(AGBL5):c.2242+11A>G	noncoding	Benign
2	27069655	G	A	G27069655A	AGBL5	NM_021831.6(AGBL5):c.2438G>A:p.Arg813Gln	coding	Benign
2	27070121	G	A	G27070121A	AGBL5	NM_021831.6(AGBL5):c.2519G>A:p.Arg840His	coding	Benign
2	27070146	A	T	A27070146T	AGBL5	NM_021831.6(AGBL5):c.2544A>T:p.Ile848=	coding	Benign
2	27070158	A	G	A27070158G	AGBL5	NM_021831.6(AGBL5):c.2556A>G:p.Leu852=	coding	Benign/Likely_benign
2	27070164	C	T	C27070164T	AGBL5	NM_021831.6(AGBL5):c.2562C>T:p.Asp854=	coding	Benign
2	27070173	C	T	C27070173T	AGBL5	NM_021831.6(AGBL5):c.2571C>T:p.Ser857=	coding	Benign
2	27082319	C	T	C27082319T	EMILIN1	NM_007046.4(EMILIN1):c.748C>T:p.Arg250Cys	coding	Pathogenic
2	27083177	C	T	C27083177T	EMILIN1	NM_007046.4(EMILIN1):c.1606C>T:p.Gln536Ter	coding	Pathogenic
2	27092357	G	A	G27092357A	KHK	NM_006488.3(KHK):c.118G>A:p.Gly40Arg	coding	Pathogenic
2	27092366	G	A	G27092366A	KHK	NM_006488.3(KHK):c.127G>A:p.Ala43Thr	coding	Pathogenic
2	27201768	G	A	G27201768A	SLC5A6	NM_021095.4(SLC5A6):c.1442C>T:p.Ser481Phe	coding	Benign
2	27204460	C	T	C27204460T	SLC5A6	NM_021095.4(SLC5A6):c.1005+1G>A	noncoding	Pathogenic
2	27217854	C	T	C27217854T	CAD	NM_004341.5(CAD):c.83-23C>T	noncoding	Benign
2	27217929	C	A	C27217929A	CAD	NM_004341.5(CAD):c.135C>A:p.Tyr45Ter	coding	Pathogenic
2	27218150	C	G	C27218150G	CAD	NM_004341.5(CAD):c.222+134C>G	noncoding	Benign
2	27221156	G	A	G27221156A	CAD	NM_004341.5(CAD):c.223-62G>A	noncoding	Benign
2	27222426	A	G	A27222426G	CAD	NM_004341.5(CAD):c.495+90A>G	noncoding	Benign
2	27222650	A	G	A27222650G	CAD	NM_004341.5(CAD):c.627A>G:p.Leu209=	coding	Benign
2	27222776	A	G	A27222776G	CAD	NM_004341.5(CAD):c.638-90A>G	noncoding	Benign
2	27223831	G	A	G27223831A	CAD	NM_004341.5(CAD):c.995+83G>A	noncoding	Benign
2	27224293	C	A	C27224293A	CAD	NM_004341.5(CAD):c.1109-52C>A	noncoding	Benign
2	27224337	T	C	T27224337C	CAD	NM_004341.5(CAD):c.1109-8T>C	noncoding	Benign
2	27224439	A	G	A27224439G	CAD	NM_004341.5(CAD):c.1203A>G:p.Ser401=	coding	Benign
2	27225645	A	T	A27225645T	CAD	NM_004341.5(CAD):c.1621-60A>T	noncoding	Benign
2	27226425	C	G	C27226425G	CAD	NM_004341.5(CAD):c.2032-100C>G	noncoding	Benign
2	27231770	G	C	G27231770C	CAD	NM_004341.5(CAD):c.2400+190G>C	noncoding	Benign
2	27231968	C	T	C27231968T	CAD	NM_004341.5(CAD):c.2401-12C>T	noncoding	Benign
2	27232413	C	T	C27232413T	CAD	NM_004341.5(CAD):c.2646-35C>T	noncoding	Benign
2	27232858	T	C	T27232858C	CAD	NM_004341.5(CAD):c.2892+164T>C	noncoding	Benign
2	27233315	G	A	G27233315A	CAD	NM_004341.5(CAD):c.2995G>A:p.Val999Met	coding	Pathogenic
2	27233408	C	T	C27233408T	CAD	NM_004341.5(CAD):c.3088C>T:p.Gln1030Ter	coding	Pathogenic
2	27236455	C	T	C27236455T	CAD	NM_004341.5(CAD):c.4246C>T:p.Arg1416Ter	coding	Pathogenic
2	27236496	T	C	T27236496C	CAD	NM_004341.5(CAD):c.4287T>C:p.Asp1429=	coding	Benign
2	27236766	G	T	G27236766T	CAD	NM_004341.5(CAD):c.4332G>T:p.Gly1444=	coding	Benign
2	27236967	C	T	C27236967T	CAD	NM_004341.5(CAD):c.4396+137C>T	noncoding	Benign
2	27237919	G	C	G27237919C	CAD	NM_004341.5(CAD):c.4728+37G>C	noncoding	Benign
2	27237963	G	A	G27237963A	CAD	NM_004341.5(CAD):c.4728+81G>A	noncoding	Benign
2	27238045	T	C	T27238045C	CAD	NM_004341.5(CAD):c.4729-11T>C	noncoding	Benign
2	27238100	A	G	A27238100G	CAD	NM_004341.5(CAD):c.4773A>G:p.Ala1591=	coding	Benign
2	27238500	T	C	T27238500C	CAD	NM_004341.5(CAD):c.4930T>C:p.Phe1644Leu	coding	Benign/Likely_benign
2	27239208	C	T	C27239208T	CAD	NM_004341.5(CAD):c.5229C>T:p.Pro1743=	coding	Benign
2	27239731	G	A	G27239731A	CAD	NM_004341.5(CAD):c.5429G>A:p.Arg1810Gln	coding	Pathogenic/Likely_pathogenic
2	27239783	T	C	T27239783C	CAD	NM_004341.5(CAD):c.5481T>C:p.Thr1827=	coding	Benign
2	27240455	T	C	T27240455C	CAD	NM_004341.5(CAD):c.5593+94T>C	noncoding	Benign
2	27240483	C	T	C27240483T	CAD	NM_004341.5(CAD):c.5593+122C>T	noncoding	Benign
2	27241203	C	T	C27241203T	CAD	NM_004341.5(CAD):c.5784C>T:p.Ser1928=	coding	Benign
2	27241411	C	T	C27241411T	CAD	NM_004341.5(CAD):c.5883+15C>T	noncoding	Benign
2	27241464	G	A	G27241464A	CAD	NM_004341.5(CAD):c.5883+68G>A	noncoding	Benign
2	27242106	C	T	C27242106T	CAD	NM_004341.5(CAD):c.6079C>T:p.Gln2027Ter	coding	Pathogenic
2	27243013	G	T	G27243013T	CAD	NM_004341.5(CAD):c.6480+40G>T	noncoding	Benign
2	27243339	G	A	G27243339A	CAD	NM_004341.5(CAD):c.6575+47G>A	noncoding	Benign
2	27243500	C	T	C27243500T	CAD	NM_004341.5(CAD):c.6660C>T:p.Thr2220=	coding	Benign
2	27310002	A	G	A27310002G	MPV17	NM_002437.5(MPV17):c.462-21T>C	noncoding	Benign
2	27312217	G	T	G27312217T	MPV17	NM_002437.5(MPV17):c.405C>A:p.Tyr135Ter	coding	Pathogenic
2	27312510	C	T	C27312510T	MPV17	NM_002437.5(MPV17):c.359G>A:p.Trp120Ter	coding	Pathogenic/Likely_pathogenic
2	27312681	T	G	T27312681G	MPV17	NM_002437.5(MPV17):c.278A>C:p.Gln93Pro	coding	Pathogenic/Likely_pathogenic
2	27312682	G	A	G27312682A	MPV17	NM_002437.5(MPV17):c.277C>T:p.Gln93Ter	coding	Pathogenic
2	27312749	G	C	G27312749C	MPV17	NM_002437.5(MPV17):c.210C>G:p.Tyr70Ter	coding	Pathogenic
2	27313000	G	T	G27313000T	MPV17	NM_002437.5(MPV17):c.180C>A:p.Gly60=	coding	Benign
2	27367800	G	A	G27367800A	EIF2B4	NM_001034116.2(EIF2B4):c.728C>T:p.Pro243Leu	coding	Pathogenic/Likely_pathogenic
2	27368104	C	T	C27368104T	EIF2B4	NM_001034116.2(EIF2B4):c.626G>A:p.Arg209Gln	coding	Pathogenic/Likely_pathogenic
2	27368242	C	T	C27368242T	EIF2B4	NM_001034116.2(EIF2B4):c.591-103G>A	noncoding	Benign
2	27368671	T	A	T27368671A	EIF2B4	NM_001034116.2(EIF2B4):c.481A>T:p.Lys161Ter	coding	Pathogenic
2	27368806	G	A	G27368806A	EIF2B4	NM_001034116.2(EIF2B4):c.419-73C>T	noncoding	Benign
2	27368841	G	A	G27368841A	EIF2B4	NM_001034116.2(EIF2B4):c.419-108C>T	noncoding	Benign
2	27368937	T	C	T27368937C	EIF2B4	NM_001034116.2(EIF2B4):c.418+69A>G	noncoding	Benign
2	27380220	T	C	T27380220C	ZNF513	NM_144631.6(ZNF513):c.84A>G:p.Gly28=	coding	Benign
2	27444317	G	A	G27444317A	IFT172	NM_001168364.2(KRTCAP3):c.*5+256G>A	noncoding	Benign
2	27444541	C	T	C27444541T	IFT172	NM_015662.3(IFT172):c.5161-20G>A	noncoding	Benign
2	27445320	G	A	G27445320A	IFT172	NM_015662.3(IFT172):c.5044C>T:p.Arg1682Ter	coding	Pathogenic
2	27447440	G	A	G27447440A	IFT172	NM_015662.3(IFT172):c.4659+75C>T	noncoding	Benign
2	27447832	G	A	G27447832A	IFT172	NM_015662.3(IFT172):c.4519C>T:p.Arg1507Ter	coding	Pathogenic
2	27447843	C	T	C27447843T	IFT172	NM_015662.3(IFT172):c.4508G>A:p.Trp1503Ter	coding	Pathogenic
2	27448912	T	C	T27448912C	IFT172	NM_015662.3(IFT172):c.4428+3A>G	noncoding	Pathogenic
2	27453370	C	A	C27453370A	IFT172	NM_015662.3(IFT172):c.3951+14G>T	noncoding	Benign
2	27453386	T	A	T27453386A	IFT172	NM_015662.3(IFT172):c.3949A>T:p.Lys1317Ter	coding	Pathogenic
2	27453391	C	T	C27453391T	IFT172	NM_015662.3(IFT172):c.3944G>A:p.Trp1315Ter	coding	Pathogenic
2	27453629	C	T	C27453629T	IFT172	NM_015662.3(IFT172):c.3821+1G>A	noncoding	Pathogenic
2	27453658	C	A	C27453658A	IFT172	NM_015662.3(IFT172):c.3793G>T:p.Glu1265Ter	coding	Pathogenic/Likely_pathogenic
2	27453685	G	A	G27453685A	IFT172	NM_015662.3(IFT172):c.3766C>T:p.Gln1256Ter	coding	Pathogenic
2	27454099	A	G	A27454099G	IFT172	NM_015662.3(IFT172):c.3594T>C:p.Ser1198=	coding	Benign
2	27454410	G	A	G27454410A	IFT172	NM_015662.3(IFT172):c.3474C>T:p.Phe1158=	coding	Benign
2	27454474	A	G	A27454474G	IFT172	NM_015662.3(IFT172):c.3466-56T>C	noncoding	Benign
2	27454824	G	A	G27454824A	IFT172	NM_015662.3(IFT172):c.3372-164C>T	noncoding	Benign
2	27457879	G	C	G27457879C	IFT172	NM_015662.3(IFT172):c.3073C>G:p.Pro1025Ala	coding	Benign/Likely_benign
2	27458530	G	A	G27458530A	IFT172	NM_015662.3(IFT172):c.2877+249C>T	noncoding	Benign
2	27458731	A	C	A27458731C	IFT172	NM_015662.3(IFT172):c.2877+48T>G	noncoding	Benign
2	27458790	G	A	G27458790A	IFT172	NM_015662.3(IFT172):c.2866C>T:p.Gln956Ter	coding	Pathogenic
2	27459519	G	T	G27459519T	IFT172	NM_015662.3(IFT172):c.2646C>A:p.Cys882Ter	coding	Pathogenic
2	27459815	G	A	G27459815A	IFT172	NM_015662.3(IFT172):c.2536C>T:p.Arg846Ter	coding	Pathogenic
2	27459870	G	A	G27459870A	IFT172	NM_015662.3(IFT172):c.2522-41C>T	noncoding	Benign
2	27461095	T	C	T27461095C	IFT172	NM_015662.3(IFT172):c.2443-2A>G	noncoding	Pathogenic
2	27461112	T	C	T27461112C	IFT172	NM_015662.3(IFT172):c.2443-19A>G	noncoding	Benign/Likely_benign
2	27461806	G	A	G27461806A	IFT172	NM_015662.3(IFT172):c.2146C>T:p.Gln716Ter	coding	Pathogenic
2	27461867	A	G	A27461867G	IFT172	NM_015662.3(IFT172):c.2116-31T>C	noncoding	Benign
2	27462521	G	A	G27462521A	IFT172	NM_015662.3(IFT172):c.2115+180C>T	noncoding	Benign
2	27465709	C	G	C27465709G	IFT172	NM_015662.3(IFT172):c.1829+37G>C	noncoding	Benign
2	27471112	C	T	C27471112T	IFT172	NM_015662.3(IFT172):c.1525-17G>A	noncoding	Benign
2	27478126	G	A	G27478126A	IFT172	NM_015662.3(IFT172):c.1036C>T:p.Arg346Ter	coding	Pathogenic/Likely_pathogenic
2	27479599	T	C	T27479599C	IFT172	NM_015662.3(IFT172):c.915A>G:p.Thr305=	coding	Benign/Likely_benign
2	27481165	A	G	A27481165G	IFT172	NM_015662.3(IFT172):c.666T>C:p.Tyr222=	coding	Benign/Likely_benign
2	27481454	T	C	T27481454C	IFT172	NM_015662.3(IFT172):c.571-194A>G	noncoding	Benign
2	27483773	T	C	T27483773C	IFT172	NM_015662.3(IFT172):c.402+99A>G	noncoding	Benign
2	27485431	G	A	G27485431A	IFT172	NM_015662.3(IFT172):c.112C>T:p.Arg38Ter	coding	Pathogenic/Likely_pathogenic
2	27497518	C	T	C27497518T	GCKR	NM_001486.4(GCKR):c.217-44C>T	noncoding	Benign
2	27497589	A	G	A27497589G	GCKR	NM_001486.4(GCKR):c.244A>G:p.Thr82Ala	coding	Benign/Likely_benign
2	27498323	G	A	G27498323A	GCKR	NM_001486.4(GCKR):c.354G>A:p.Ser118=	coding	Benign
2	27498455	C	G	C27498455G	GCKR	NM_001486.4(GCKR):c.354+132C>G	noncoding	Benign
2	27499104	T	C	T27499104C	GCKR	NM_001486.4(GCKR):c.429-38T>C	noncoding	Benign
2	27499187	C	T	C27499187T	GCKR	NM_001486.4(GCKR):c.474C>T:p.His158=	coding	Benign
2	27499549	G	A	G27499549A	GCKR	NM_001486.4(GCKR):c.549+99G>A	noncoding	Benign
2	27505789	A	G	A27505789G	GCKR	NM_001486.4(GCKR):c.822A>G:p.Leu274=	coding	Benign
2	27505910	C	G	C27505910G	GCKR	NM_001486.4(GCKR):c.869+74C>G	noncoding	Benign
2	27506613	G	A	G27506613A	GCKR	NM_001486.4(GCKR):c.968+34G>A	noncoding	Benign
2	27507950	G	A	G27507950A	GCKR	NM_001486.4(GCKR):c.1241-27G>A	noncoding	Benign
2	27508073	T	C	T27508073C	GCKR	NM_001486.4(GCKR):c.1337T>C:p.Leu446Pro	coding	Benign
2	27508345	T	C	T27508345C	GCKR	NM_001486.4(GCKR):c.1422+94T>C	noncoding	Benign
2	27508509	C	T	C27508509T	GCKR	NM_001486.4(GCKR):c.1422+258C>T	noncoding	Benign
2	27518766	C	G	C27518766G	GCKR	NM_001486.4(GCKR):c.1423-22C>G	noncoding	Benign
2	27518866	C	T	C27518866T	GCKR	NM_001486.4(GCKR):c.1501C>T:p.Leu501=	coding	Benign
2	27522506	G	A	G27522506A	GCKR	NM_001486.4(GCKR):c.1619G>A:p.Arg540Gln	coding	Benign
2	27523079	A	G	A27523079G	GCKR	NM_001486.4(GCKR):c.1708-190A>G	noncoding	Benign
2	27523543	G	A	G27523543A	GCKR	NM_001486.4(GCKR):c.*104G>A	noncoding	Benign
2	28751600	T	C	T28751600C	PPP1CB	Single_allele	noncoding	Benign
2	28751725	C	G	C28751725G	PPP1CB	NM_206876.2(PPP1CB):c.-183C>G	noncoding	Benign
2	28751757	C	G	C28751757G	PPP1CB	NM_206876.2(PPP1CB):c.-151C>G	noncoding	Benign
2	28751800	G	A	G28751800A	PPP1CB	NM_002709.2(PPP1CB):c.-325G>A	noncoding	Benign
2	28751817	G	A	G28751817A	PPP1CB	NM_002709.2(PPP1CB):c.-308G>A	noncoding	Benign
2	28752151	C	T	C28752151T	PPP1CB	NM_002709.3(PPP1CB):c.27C>T:p.Asp9=	coding	Benign/Likely_benign
2	28752191	G	T	G28752191T	PPP1CB	NM_002709.3(PPP1CB):c.52+15G>T	noncoding	Benign/Likely_benign
2	28752241	G	C	G28752241C	PPP1CB	NM_002709.3(PPP1CB):c.52+65G>C	noncoding	Benign
2	28779125	A	C	A28779125C	PPP1CB	NM_002709.3(PPP1CB):c.415+86A>C	noncoding	Benign
2	28781433	T	C	T28781433C	PPP1CB	NM_002709.3(PPP1CB):c.416-305T>C	noncoding	Benign
2	28781721	A	G	A28781721G	PPP1CB	NM_002709.3(PPP1CB):c.416-17A>G	noncoding	Benign
2	28781849	T	C	T28781849C	PPP1CB	NM_002709.3(PPP1CB):c.520+7T>C	noncoding	Benign
2	28782057	G	A	G28782057A	PPP1CB	NM_002709.3(PPP1CB):c.520+215G>A	noncoding	Benign
2	28793938	G	A	G28793938A	PPP1CB	NM_002709.3(PPP1CB):c.820G>A:p.Glu274Lys	coding	Pathogenic
2	29070737	C	T	C29070737T	PCARE	NM_001029883.3(PCARE):c.3525G>A:p.Ser1175=	coding	Benign
2	29071123	G	A	G29071123A	PCARE	NM_001029883.3(PCARE):c.3139C>T:p.Arg1047Ter	coding	Pathogenic
2	29071661	C	T	C29071661T	PCARE	NM_001029883.3(PCARE):c.2601G>A:p.Pro867=	coding	Benign
2	29072746	G	A	G29072746A	PCARE	NM_001029883.3(PCARE):c.1516C>T:p.Gln506Ter	coding	Pathogenic
2	29072989	G	A	G29072989A	PCARE	NM_001029883.3(PCARE):c.1273C>T:p.Arg425Ter	coding	Pathogenic
2	29073082	C	A	C29073082A	PCARE	NM_001029883.3(PCARE):c.1180G>T:p.Gly394Ter	coding	Pathogenic
2	29073088	G	A	G29073088A	PCARE	NM_001029883.3(PCARE):c.1174C>T:p.Gln392Ter	coding	Pathogenic
2	29073149	C	T	C29073149T	PCARE	NM_001029883.3(PCARE):c.1113G>A:p.Trp371Ter	coding	Pathogenic
2	29073283	G	A	G29073283A	PCARE	NM_001029883.3(PCARE):c.979C>T:p.Gln327Ter	coding	Pathogenic
2	29073342	A	T	A29073342T	PCARE	NM_001029883.3(PCARE):c.920T>A:p.Leu307Ter	coding	Pathogenic
2	29073503	C	T	C29073503T	PCARE	NM_001029883.3(PCARE):c.759G>A:p.Trp253Ter	coding	Pathogenic
2	29073871	C	A	C29073871A	PCARE	NM_001029883.3(PCARE):c.391G>T:p.Gly131Ter	coding	Pathogenic
2	29193680	C	T	C29193680T	ALK	NM_004304.5(ALK):c.4407G>A:p.Pro1469=	coding	Benign/Likely_benign
2	29193902	G	A	G29193902A	ALK	NM_004304.5(ALK):c.4185C>T:p.Thr1395=	coding	Benign/Likely_benign
2	29194034	G	T	G29194034T	ALK	NM_004304.5(ALK):c.4165-112C>A	noncoding	Benign
2	29194080	T	C	T29194080C	ALK	NM_004304.5(ALK):c.4165-158A>G	noncoding	Benign
2	29194159	G	C	G29194159C	ALK	NM_004304.5(ALK):c.4165-237C>G	noncoding	Benign
2	29196547	T	C	T29196547C	ALK	NM_004304.5(ALK):c.4164+223A>G	noncoding	Benign
2	29196572	T	C	T29196572C	ALK	NM_004304.5(ALK):c.4164+198A>G	noncoding	Benign
2	29207022	G	A	G29207022A	ALK	NM_004304.5(ALK):c.3938+149C>T	noncoding	Benign
2	29207565	T	C	T29207565C	ALK	NM_004304.5(ALK):c.3837-293A>G	noncoding	Benign
2	29207599	A	G	A29207599G	ALK	NM_004304.5(ALK):c.3837-327T>C	noncoding	Benign
2	29209538	G	A	G29209538A	ALK	NM_004304.5(ALK):c.3836+248C>T	noncoding	Benign
2	29209759	C	A	C29209759A	ALK	NM_004304.5(ALK):c.3836+27G>T	noncoding	Benign
2	29210116	C	T	C29210116T	ALK	NM_004304.5(ALK):c.3744-238G>A	noncoding	Benign
2	29220507	G	A	G29220507A	ALK	NM_004304.5(ALK):c.3645+199C>T	noncoding	Benign
2	29220518	C	T	C29220518T	ALK	NM_004304.5(ALK):c.3645+188G>A	noncoding	Benign
2	29220690	A	T	A29220690T	ALK	NM_004304.5(ALK):c.3645+16T>A	noncoding	Benign
2	29220776	C	G	C29220776G	ALK	NM_004304.5(ALK):c.3575G>C:p.Arg1192Pro	coding	Pathogenic
2	29220883	G	T	G29220883T	ALK	NM_004304.5(ALK):c.3516-48C>A	noncoding	Benign
2	29222326	G	A	G29222326A	ALK	NM_004304.5(ALK):c.3515+18C>T	noncoding	Benign/Likely_benign
2	29223116	G	C	G29223116C	ALK	NM_004304.5(ALK):c.3359+226C>G	noncoding	Benign
2	29223318	C	G	C29223318G	ALK	NM_004304.5(ALK):c.3359+24G>C	noncoding	Benign
2	29223325	G	A	G29223325A	ALK	NM_004304.5(ALK):c.3359+17C>T	noncoding	Benign
2	29223675	A	T	A29223675T	ALK	NM_004304.5(ALK):c.3173-147T>A	noncoding	Benign
2	29223835	T	C	T29223835C	ALK	NM_004304.5(ALK):c.3173-307A>G	noncoding	Benign
2	29225114	C	T	C29225114T	ALK	NM_004304.5(ALK):c.3172+347G>A	noncoding	Benign
2	29225494	C	T	C29225494T	ALK	NM_004304.5(ALK):c.3139G>A:p.Ala1047Thr	coding	Benign/Likely_benign
2	29225531	C	T	C29225531T	ALK	NM_004304.5(ALK):c.3102G>A:p.Ser1034=	coding	Benign/Likely_benign
2	29225544	T	G	T29225544G	ALK	NM_004304.5(ALK):c.3089A>C:p.His1030Pro	coding	Benign
2	29225806	C	A	C29225806A	ALK	NM_004304.5(ALK):c.3068-241G>T	noncoding	Benign
2	29225894	C	T	C29225894T	ALK	NM_004304.5(ALK):c.3068-329G>A	noncoding	Benign
2	29226660	C	T	C29226660T	ALK	NM_004304.5(ALK):c.3067+262G>A	noncoding	Benign
2	29227818	G	A	G29227818A	ALK	NM_004304.5(ALK):c.2816-146C>T	noncoding	Benign
2	29228645	C	G	C29228645G	ALK	NM_004304.5(ALK):c.2815+239G>C	noncoding	Benign
2	29228936	G	C	G29228936C	ALK	NM_004304.5(ALK):c.2763C>G:p.Phe921Leu	coding	Benign
2	29229070	C	T	C29229070T	ALK	NM_004304.5(ALK):c.2633-4G>A	noncoding	Benign/Likely_benign
2	29229120	C	T	C29229120T	ALK	NM_004304.5(ALK):c.2633-54G>A	noncoding	Benign
2	29229372	C	G	C29229372G	ALK	NM_004304.5(ALK):c.2633-306G>C	noncoding	Benign
2	29232150	C	T	C29232150T	ALK	NM_004304.5(ALK):c.2632+154G>A	noncoding	Benign
2	29232288	G	A	G29232288A	ALK	NM_004304.5(ALK):c.2632+16C>T	noncoding	Benign
2	29233518	T	C	T29233518C	ALK	NM_004304.5(ALK):c.2487+47A>G	noncoding	Benign
2	29233519	G	A	G29233519A	ALK	NM_004304.5(ALK):c.2487+46C>T	noncoding	Benign
2	29233712	G	A	G29233712A	ALK	NM_004304.5(ALK):c.2356-16C>T	noncoding	Benign
2	29234016	T	C	T29234016C	ALK	NM_004304.5(ALK):c.2356-320A>G	noncoding	Benign
2	29239404	G	A	G29239404A	ALK	NM_004304.5(ALK):c.2355+276C>T	noncoding	Benign
2	29239405	G	A	G29239405A	ALK	NM_004304.5(ALK):c.2355+275C>T	noncoding	Benign
2	29239432	T	A	T29239432A	ALK	NM_004304.5(ALK):c.2355+248A>T	noncoding	Benign
2	29239539	A	G	A29239539G	ALK	NM_004304.5(ALK):c.2355+141T>C	noncoding	Benign
2	29239654	G	A	G29239654A	ALK	NM_004304.5(ALK):c.2355+26C>T	noncoding	Benign
2	29239728	G	A	G29239728A	ALK	NM_004304.5(ALK):c.2307C>T:p.Asp769=	coding	Benign/Likely_benign
2	29239770	G	A	G29239770A	ALK	NM_004304.5(ALK):c.2265C>T:p.His755=	coding	Benign/Likely_benign
2	29250893	T	C	T29250893C	ALK	NM_004304.5(ALK):c.2204+212A>G	noncoding	Benign
2	29250985	G	T	G29250985T	ALK	NM_004304.5(ALK):c.2204+120C>A	noncoding	Benign
2	29251090	C	G	C29251090G	ALK	NM_004304.5(ALK):c.2204+15G>C	noncoding	Benign
2	29275084	G	A	G29275084A	ALK	NM_004304.5(ALK):c.2041+15C>T	noncoding	Benign
2	29275344	A	G	A29275344G	ALK	NM_004304.5(ALK):c.1912+58T>C	noncoding	Benign
2	29296609	C	A	C29296609A	ALK	NM_004304.5(ALK):c.1817+279G>T	noncoding	Benign
2	29296756	C	T	C29296756T	ALK	NM_004304.5(ALK):c.1817+132G>A	noncoding	Benign
2	29296877	A	G	A29296877G	ALK	NM_004304.5(ALK):c.1817+11T>C	noncoding	Benign/Likely_benign
2	29296950	G	A	G29296950A	ALK	NM_004304.5(ALK):c.1755C>T:p.Ala585=	coding	Benign/Likely_benign
2	29297067	C	T	C29297067T	ALK	NM_004304.5(ALK):c.1648-10G>A	noncoding	Benign/Likely_benign
2	29297219	G	A	G29297219A	ALK	NM_004304.5(ALK):c.1648-162C>T	noncoding	Benign
2	29317968	G	A	G29317968A	ALK	NM_004304.5(ALK):c.1647+336C>T	noncoding	Benign
2	29318325	C	G	C29318325G	ALK	NM_004304.5(ALK):c.1626G>C:p.Pro542=	coding	Benign/Likely_benign
2	29328295	G	A	G29328295A	ALK	NM_004304.5(ALK):c.1414+55C>T	noncoding	Benign
2	29328528	A	T	A29328528T	ALK	NM_004304.5(ALK):c.1283-47T>A	noncoding	Benign
2	29328530	G	A	G29328530A	ALK	NM_004304.5(ALK):c.1283-49C>T	noncoding	Benign
2	29328627	G	C	G29328627C	ALK	NM_004304.5(ALK):c.1283-146C>G	noncoding	Benign
2	29383611	C	T	C29383611T	ALK	NM_004304.5(ALK):c.1282+121G>A	noncoding	Benign
2	29383737	C	G	C29383737G	ALK	NM_004304.5(ALK):c.1277G>C:p.Ser426Thr	coding	Benign/Likely_benign
2	29383958	G	A	G29383958A	ALK	NM_004304.5(ALK):c.1155-99C>T	noncoding	Benign
2	29392361	T	G	T29392361G	ALK	NM_004304.5(ALK):c.1155-8502A>C	noncoding	Benign
2	29392367	T	C	T29392367C	ALK	NM_004304.5(ALK):c.1155-8508A>G	noncoding	Benign
2	29392553	C	A	C29392553A	ALK	NM_004304.5(ALK):c.1155-8694G>T	noncoding	Benign
2	29392567	G	T	G29392567T	ALK	NM_004304.5(ALK):c.1155-8708C>A	noncoding	Benign
2	29392577	T	G	T29392577G	ALK	NM_004304.5(ALK):c.1155-8718A>C	noncoding	Benign
2	29531855	T	C	T29531855C	ALK	NM_004304.5(ALK):c.1154+60A>G	noncoding	Benign
2	29694916	C	T	C29694916T	ALK	NM_004304.5(ALK):c.886G>A:p.Glu296Lys	coding	Benign/Likely_benign
2	29695074	C	G	C29695074G	ALK	NM_004304.5(ALK):c.788-60G>C	noncoding	Benign
2	29695207	T	C	T29695207C	ALK	NM_004304.5(ALK):c.788-193A>G	noncoding	Benign
2	29717597	C	T	C29717597T	ALK	NM_004304.5(ALK):c.768G>A:p.Leu256=	coding	Benign/Likely_benign
2	29717954	C	T	C29717954T	ALK	NM_004304.5(ALK):c.668-257G>A	noncoding	Benign
2	31336229	G	C	G31336229C	XDH	NM_000379.4(XDH):c.3952-221C>G	noncoding	Benign
2	31337627	G	C	G31337627C	XDH	NM_000379.4(XDH):c.3951+14C>G	noncoding	Benign/Likely_benign
2	31338085	A	G	A31338085G	XDH	NM_000379.4(XDH):c.3775-268T>C	noncoding	Benign
2	31339492	C	T	C31339492T	XDH	NM_000379.4(XDH):c.3771G>A:p.Ser1257=	coding	Benign/Likely_benign
2	31341439	T	C	T31341439C	XDH	NM_000379.4(XDH):c.3520-45A>G	noncoding	Benign
2	31342312	A	G	A31342312G	XDH	NM_000379.4(XDH):c.3405-15T>C	noncoding	Benign/Likely_benign
2	31342450	C	T	C31342450T	XDH	NM_000379.4(XDH):c.3405-153G>A	noncoding	Benign
2	31342494	C	T	C31342494T	XDH	NM_000379.4(XDH):c.3405-197G>A	noncoding	Benign
2	31342573	A	T	A31342573T	XDH	NM_000379.4(XDH):c.3405-276T>A	noncoding	Benign
2	31344377	C	A	C31344377A	XDH	NM_000379.4(XDH):c.3404+307G>T	noncoding	Benign
2	31344432	T	G	T31344432G	XDH	NM_000379.4(XDH):c.3404+252A>C	noncoding	Benign
2	31344738	T	C	T31344738C	XDH	NM_000379.4(XDH):c.3352-2A>G	noncoding	Pathogenic
2	31344766	T	G	T31344766G	XDH	NM_000379.4(XDH):c.3352-30A>C	noncoding	Benign
2	31344877	T	C	T31344877C	XDH	NM_000379.4(XDH):c.3352-141A>G	noncoding	Benign
2	31346508	C	G	C31346508G	XDH	NM_000379.4(XDH):c.3351+261G>C	noncoding	Benign
2	31346605	A	G	A31346605G	XDH	NM_000379.4(XDH):c.3351+164T>C	noncoding	Benign
2	31346881	C	T	C31346881T	XDH	NM_000379.4(XDH):c.3277-38G>A	noncoding	Benign
2	31347057	G	A	G31347057A	XDH	NM_000379.4(XDH):c.3277-214C>T	noncoding	Benign
2	31347203	A	G	A31347203G	XDH	NM_000379.4(XDH):c.3276+319T>C	noncoding	Benign
2	31347249	G	C	G31347249C	XDH	NM_000379.4(XDH):c.3276+273C>G	noncoding	Benign
2	31347667	C	T	C31347667T	XDH	NM_000379.4(XDH):c.3148-17G>A	noncoding	Benign
2	31347760	C	T	C31347760T	XDH	NM_000379.4(XDH):c.3148-110G>A	noncoding	Benign
2	31347765	A	G	A31347765G	XDH	NM_000379.4(XDH):c.3148-115T>C	noncoding	Benign
2	31347823	G	A	G31347823A	XDH	NM_000379.4(XDH):c.3148-173C>T	noncoding	Benign
2	31348161	C	T	C31348161T	XDH	NM_000379.4(XDH):c.3147+107G>A	noncoding	Benign
2	31349018	T	C	T31349018C	XDH	NM_000379.4(XDH):c.2970-38A>G	noncoding	Benign
2	31349210	A	C	A31349210C	XDH	NM_000379.4(XDH):c.2970-230T>G	noncoding	Benign
2	31349532	A	G	A31349532G	XDH	NM_000379.4(XDH):c.2969+154T>C	noncoding	Benign
2	31349866	C	T	C31349866T	XDH	NM_000379.4(XDH):c.2824-35G>A	noncoding	Benign
2	31350061	C	T	C31350061T	XDH	NM_000379.4(XDH):c.2794G>A:p.Ala932Thr	coding	Benign
2	31363995	G	A	G31363995A	XDH	NM_000379.4(XDH):c.2631+163C>T	noncoding	Benign
2	31364276	A	G	A31364276G	XDH	NM_000379.4(XDH):c.2545-32T>C	noncoding	Benign
2	31364369	G	A	G31364369A	XDH	NM_000379.4(XDH):c.2545-125C>T	noncoding	Benign
2	31365354	T	C	T31365354C	XDH	NM_000379.4(XDH):c.2544+103A>G	noncoding	Benign
2	31365422	T	A	T31365422A	XDH	NM_000379.4(XDH):c.2544+35A>T	noncoding	Benign
2	31365571	C	T	C31365571T	XDH	NM_000379.4(XDH):c.2457-27G>A	noncoding	Benign
2	31365695	A	C	A31365695C	XDH	NM_000379.4(XDH):c.2457-151T>G	noncoding	Benign
2	31365711	A	G	A31365711G	XDH	NM_000379.4(XDH):c.2457-167T>C	noncoding	Benign
2	31365798	C	T	C31365798T	XDH	NM_000379.4(XDH):c.2456+178G>A	noncoding	Benign
2	31366548	T	C	T31366548C	XDH	NM_000379.4(XDH):c.2322+322A>G	noncoding	Benign
2	31366788	T	C	T31366788C	XDH	NM_000379.4(XDH):c.2322+82A>G	noncoding	Benign
2	31367290	A	G	A31367290G	XDH	NM_000379.4(XDH):c.2198-296T>C	noncoding	Benign
2	31367679	A	G	A31367679G	XDH	NM_000379.4(XDH):c.2197+282T>C	noncoding	Benign
2	31367750	G	A	G31367750A	XDH	NM_000379.4(XDH):c.2197+211C>T	noncoding	Benign
2	31367760	G	C	G31367760C	XDH	NM_000379.4(XDH):c.2197+201C>G	noncoding	Benign
2	31367831	G	A	G31367831A	XDH	NM_000379.4(XDH):c.2197+130C>T	noncoding	Benign
2	31367893	C	T	C31367893T	XDH	NM_000379.4(XDH):c.2197+68G>A	noncoding	Benign
2	31367919	C	G	C31367919G	XDH	NM_000379.4(XDH):c.2197+42G>C	noncoding	Benign
2	31367994	T	A	T31367994A	XDH	NM_000379.4(XDH):c.2164A>T:p.Lys722Ter	coding	Pathogenic
2	31370029	C	T	C31370029T	XDH	NM_000379.4(XDH):c.1980+326G>A	noncoding	Benign
2	31370089	T	C	T31370089C	XDH	NM_000379.4(XDH):c.1980+266A>G	noncoding	Benign
2	31370110	C	T	C31370110T	XDH	NM_000379.4(XDH):c.1980+245G>A	noncoding	Benign
2	31370216	T	C	T31370216C	XDH	NM_000379.4(XDH):c.1980+139A>G	noncoding	Benign
2	31370259	T	C	T31370259C	XDH	NM_000379.4(XDH):c.1980+96A>G	noncoding	Benign
2	31370399	T	C	T31370399C	XDH	NM_000379.4(XDH):c.1936A>G:p.Ile646Val	coding	Benign/Likely_benign
2	31370424	G	A	G31370424A	XDH	NM_000379.4(XDH):c.1911C>T:p.Ser637=	coding	Benign
2	31370638	A	G	A31370638G	XDH	NM_000379.4(XDH):c.1857-160T>C	noncoding	Benign
2	31371923	A	C	A31371923C	XDH	NM_000379.4(XDH):c.1856+305T>G	noncoding	Benign
2	31372558	T	C	T31372558C	XDH	NM_000379.4(XDH):c.1687-161A>G	noncoding	Benign
2	31373653	G	A	G31373653A	XDH	NM_000379.4(XDH):c.1686+220C>T	noncoding	Benign
2	31374089	G	A	G31374089A	XDH	NM_000379.4(XDH):c.1603-133C>T	noncoding	Benign
2	31374097	T	C	T31374097C	XDH	NM_000379.4(XDH):c.1603-141A>G	noncoding	Benign
2	31374166	C	A	C31374166A	XDH	NM_000379.4(XDH):c.1603-210G>T	noncoding	Benign
2	31375128	T	C	T31375128C	XDH	NM_000379.4(XDH):c.1602+252A>G	noncoding	Benign
2	31375619	T	C	T31375619C	XDH	NM_000379.4(XDH):c.1428-65A>G	noncoding	Benign
2	31376833	C	T	C31376833T	XDH	NM_000379.4(XDH):c.1427+220G>A	noncoding	Benign
2	31376983	G	C	G31376983C	XDH	NM_000379.4(XDH):c.1427+70C>G	noncoding	Benign
2	31377280	T	C	T31377280C	XDH	NM_000379.4(XDH):c.1243-43A>G	noncoding	Benign
2	31380198	G	A	G31380198A	XDH	NM_000379.4(XDH):c.1133-222C>T	noncoding	Benign
2	31380268	A	G	A31380268G	XDH	NM_000379.4(XDH):c.1133-292T>C	noncoding	Benign
2	31381580	A	G	A31381580G	XDH	NM_000379.4(XDH):c.1132+53T>C	noncoding	Benign
2	31382749	A	G	A31382749G	XDH	NM_000379.4(XDH):c.1038+252T>C	noncoding	Benign
2	31383559	C	T	C31383559T	XDH	NM_000379.4(XDH):c.886+196G>A	noncoding	Benign
2	31383804	G	A	G31383804A	XDH	NM_000379.4(XDH):c.837C>T:p.Val279=	coding	Benign/Likely_benign
2	31384040	T	C	T31384040C	XDH	NM_000379.4(XDH):c.794-193A>G	noncoding	Benign
2	31386179	T	A	T31386179A	XDH	NM_000379.4(XDH):c.793+235A>T	noncoding	Benign
2	31386395	C	T	C31386395T	XDH	NM_000379.4(XDH):c.793+19G>A	noncoding	Benign
2	31387826	A	G	A31387826G	XDH	NM_000379.4(XDH):c.636T>C:p.Phe212=	coding	Benign/Likely_benign
2	31387864	C	A	C31387864A	XDH	NM_000379.4(XDH):c.598G>T:p.Glu200Ter	coding	Pathogenic
2	31388163	G	A	G31388163A	XDH	NM_000379.4(XDH):c.564+64C>T	noncoding	Benign
2	31388277	C	T	C31388277T	XDH	NM_000379.4(XDH):c.514G>A:p.Gly172Arg	coding	Benign/Likely_benign
2	31388347	G	A	G31388347A	XDH	NM_000379.4(XDH):c.496-52C>T	noncoding	Benign
2	31388501	T	C	T31388501C	XDH	NM_000379.4(XDH):c.496-206A>G	noncoding	Benign
2	31398732	T	C	T31398732C	XDH	NM_000379.4(XDH):c.307-33A>G	noncoding	Benign
2	31400944	T	C	T31400944C	XDH	NM_000379.4(XDH):c.306+276A>G	noncoding	Benign
2	31403179	G	C	G31403179C	XDH	NM_000379.4(XDH):c.101-35C>G	noncoding	Benign
2	31403228	C	A	C31403228A	XDH	NM_000379.4(XDH):c.101-84G>T	noncoding	Benign
2	31405839	T	G	T31405839G	XDH	NM_000379.4(XDH):c.100+68A>C	noncoding	Benign
2	31405880	G	A	G31405880A	XDH	NM_000379.4(XDH):c.100+27C>T	noncoding	Benign
2	31406089	C	G	C31406089G	XDH	NM_000379.4(XDH):c.43-125G>C	noncoding	Benign
2	31414387	G	A	G31414387A	XDH	NM_000379.4(XDH):c.42+238C>T	noncoding	Benign
2	31415003	C	T	C31415003T	XDH	Single_allele	noncoding	Benign
2	31529322	G	A	G31529322A	SRD5A2	NM_000348.4(SRD5A2):c.683C>T:p.Ala228Val	coding	Pathogenic
2	31529382	G	A	G31529382A	SRD5A2	NM_000348.4(SRD5A2):c.623C>T:p.Thr208Ile	coding	Pathogenic/Likely_pathogenic
2	31529416	C	T	C31529416T	SRD5A2	NM_000348.4(SRD5A2):c.589G>A:p.Glu197Lys	coding	Pathogenic
2	31529474	C	A	C31529474A	SRD5A2	NM_000348.4(SRD5A2):c.548-17G>T	noncoding	Benign
2	31529475	G	A	G31529475A	SRD5A2	NM_000348.4(SRD5A2):c.548-18C>T	noncoding	Benign
2	31533607	G	A	G31533607A	SRD5A2	NM_000348.4(SRD5A2):c.441C>T:p.Ser147=	coding	Benign
2	31580600	C	T	C31580600T	SRD5A2	NM_000348.4(SRD5A2):c.281+20G>A	noncoding	Benign
2	31580604	A	G	A31580604G	SRD5A2	NM_000348.4(SRD5A2):c.281+16T>C	noncoding	Benign
2	31580952	C	A	C31580952A	SRD5A2	Single_allele	noncoding	Benign
2	32063899	G	A	G32063899A	SPAST	NM_014946.4(SPAST):c.68G>A:p.Arg23Lys	coding	Benign/Likely_benign
2	32063968	A	G	A32063968G	SPAST	NM_014946.4(SPAST):c.137A>G:p.His46Arg	coding	Benign/Likely_benign
2	32063970	A	T	A32063970T	SPAST	NM_014946.4(SPAST):c.139A>T:p.Lys47Ter	coding	Pathogenic
2	32063984	C	G	C32063984G	SPAST	NM_014946.4(SPAST):c.153C>G:p.Tyr51Ter	coding	Pathogenic
2	32063996	C	A	C32063996A	SPAST	NM_014946.4(SPAST):c.165C>A:p.Tyr55Ter	coding	Pathogenic
2	32064171	G	T	G32064171T	SPAST	NM_014946.4(SPAST):c.340G>T:p.Glu114Ter	coding	Pathogenic
2	32064258	G	A	G32064258A	SPAST	NM_014946.4(SPAST):c.415+12G>A	noncoding	Benign/Likely_benign
2	32087224	A	T	A32087224T	SPAST	NM_014946.4(SPAST):c.416-268A>T	noncoding	Benign
2	32087506	C	T	C32087506T	SPAST	NM_014946.4(SPAST):c.430C>T:p.Gln144Ter	coding	Pathogenic
2	32087523	T	A	T32087523A	SPAST	NM_014946.4(SPAST):c.447T>A:p.Tyr149Ter	coding	Pathogenic
2	32087596	T	C	T32087596C	SPAST	NM_014946.4(SPAST):c.502+18T>C	noncoding	Benign
2	32087631	T	C	T32087631C	SPAST	NM_014946.4(SPAST):c.502+53T>C	noncoding	Benign
2	32089404	A	T	A32089404T	SPAST	NM_014946.4(SPAST):c.503-118A>T	noncoding	Benign
2	32089533	G	T	G32089533T	SPAST	NM_014946.4(SPAST):c.514G>T:p.Glu172Ter	coding	Pathogenic
2	32089551	C	T	C32089551T	SPAST	NM_014946.4(SPAST):c.532C>T:p.Gln178Ter	coding	Pathogenic
2	32089596	C	T	C32089596T	SPAST	NM_014946.4(SPAST):c.577C>T:p.Gln193Ter	coding	Pathogenic
2	32099003	T	C	T32099003C	SPAST	NM_014946.4(SPAST):c.682+112T>C	noncoding	Benign
2	32099066	G	A	G32099066A	SPAST	NM_014946.4(SPAST):c.682+175G>A	noncoding	Benign
2	32114492	C	T	C32114492T	SPAST	NM_014946.4(SPAST):c.683-146C>T	noncoding	Benign
2	32114703	A	T	A32114703T	SPAST	NM_014946.4(SPAST):c.748A>T:p.Lys250Ter	coding	Pathogenic
2	32114735	T	G	T32114735G	SPAST	NM_014946.4(SPAST):c.780T>G:p.Leu260=	coding	Pathogenic
2	32114762	C	G	C32114762G	SPAST	NM_014946.4(SPAST):c.807C>G:p.Tyr269Ter	coding	Pathogenic
2	32114828	A	G	A32114828G	SPAST	NM_014946.4(SPAST):c.870+3A>G	noncoding	Pathogenic
2	32115786	A	T	A32115786T	SPAST	NM_014946.4(SPAST):c.955A>T:p.Asn319Tyr	coding	Pathogenic
2	32115814	T	C	T32115814C	SPAST	NM_014946.4(SPAST):c.983T>C:p.Ile328Thr	coding	Pathogenic
2	32115837	T	G	T32115837G	SPAST	NM_014946.4(SPAST):c.1004+2T>G	noncoding	Pathogenic/Likely_pathogenic
2	32115840	G	T	G32115840T	SPAST	NM_014946.4(SPAST):c.1004+5G>T	noncoding	Pathogenic
2	32116161	G	C	G32116161C	SPAST	NM_014946.4(SPAST):c.1047G>C:p.Leu349Phe	coding	Pathogenic
2	32116168	C	T	C32116168T	SPAST	NM_014946.4(SPAST):c.1054C>T:p.Gln352Ter	coding	Pathogenic
2	32116180	G	A	G32116180A	SPAST	NM_014946.4(SPAST):c.1066G>A:p.Glu356Lys	coding	Pathogenic/Likely_pathogenic
2	32116181	A	G	A32116181G	SPAST	NM_014946.4(SPAST):c.1067A>G:p.Glu356Gly	coding	Pathogenic
2	32116195	C	T	C32116195T	SPAST	NM_014946.4(SPAST):c.1081C>T:p.Pro361Ser	coding	Pathogenic
2	32116214	T	A	T32116214A	SPAST	NM_014946.4(SPAST):c.1098+2T>A	noncoding	Pathogenic
2	32116330	A	G	A32116330G	SPAST	NM_014946.4(SPAST):c.1098+118A>G	noncoding	Benign
2	32116339	A	G	A32116339G	SPAST	NM_014946.4(SPAST):c.1098+127A>G	noncoding	Benign
2	32126947	G	A	G32126947A	SPAST	NM_014946.4(SPAST):c.1099-1G>A	noncoding	Pathogenic
2	32126954	A	C	A32126954C	SPAST	NM_014946.4(SPAST):c.1105A>C:p.Thr369Pro	coding	Pathogenic
2	32126961	T	G	T32126961G	SPAST	NM_014946.4(SPAST):c.1112T>G:p.Leu371Arg	coding	Pathogenic/Likely_pathogenic
2	32126970	C	T	C32126970T	SPAST	NM_014946.4(SPAST):c.1121C>T:p.Pro374Leu	coding	Pathogenic
2	32126997	C	G	C32126997G	SPAST	NM_014946.4(SPAST):c.1148C>G:p.Pro383Arg	coding	Pathogenic
2	32127012	A	G	A32127012G	SPAST	NM_014946.4(SPAST):c.1163A>G:p.Lys388Arg	coding	Pathogenic
2	32127019	G	A	G32127019A	SPAST	NM_014946.4(SPAST):c.1170G>A:p.Met390Ile	coding	Pathogenic/Likely_pathogenic
2	32127039	A	C	A32127039C	SPAST	NM_014946.4(SPAST):c.1173+17A>C	noncoding	Benign/Likely_benign
2	32128415	C	A	C32128415A	SPAST	NM_014946.4(SPAST):c.1181C>A:p.Ala394Glu	coding	Pathogenic
2	32128453	A	C	A32128453C	SPAST	NM_014946.4(SPAST):c.1219A>C:p.Ser407Arg	coding	Pathogenic
2	32128459	G	A	G32128459A	SPAST	NM_014946.4(SPAST):c.1225G>A:p.Ala409Thr	coding	Pathogenic
2	32128460	C	A	C32128460A	SPAST	NM_014946.4(SPAST):c.1226C>A:p.Ala409Glu	coding	Pathogenic
2	32128460	C	T	C32128460T	SPAST	NM_014946.4(SPAST):c.1226C>T:p.Ala409Val	coding	Pathogenic
2	32128476	A	G	A32128476G	SPAST	NM_014946.4(SPAST):c.1242A>G:p.Lys414=	coding	Pathogenic
2	32128482	G	C	G32128482C	SPAST	NM_014946.4(SPAST):c.1245+3G>C	noncoding	Pathogenic
2	32136567	G	A	G32136567A	SPAST	NM_014946.4(SPAST):c.1250G>A:p.Gly417Glu	coding	Pathogenic/Likely_pathogenic
2	32136567	G	T	G32136567T	SPAST	NM_014946.4(SPAST):c.1250G>T:p.Gly417Val	coding	Pathogenic
2	32136570	A	G	A32136570G	SPAST	NM_014946.4(SPAST):c.1253A>G:p.Glu418Gly	coding	Pathogenic
2	32136576	A	G	A32136576G	SPAST	NM_014946.4(SPAST):c.1259A>G:p.Glu420Gly	coding	Pathogenic
2	32136583	G	C	G32136583C	SPAST	NM_014946.4(SPAST):c.1266G>C:p.Leu422Phe	coding	Pathogenic
2	32136588	G	C	G32136588C	SPAST	NM_014946.4(SPAST):c.1271G>C:p.Arg424Thr	coding	Pathogenic
2	32136621	C	T	C32136621T	SPAST	NM_014946.4(SPAST):c.1304C>T:p.Pro435Leu	coding	Pathogenic
2	32136623	T	C	T32136623C	SPAST	NM_014946.4(SPAST):c.1306T>C:p.Ser436Pro	coding	Pathogenic
2	32136639	G	A	G32136639A	SPAST	NM_014946.4(SPAST):c.1321+1G>A	coding	Pathogenic
2	32136639	G	T	G32136639T	SPAST	NM_014946.4(SPAST):c.1321+1G>T	coding	Pathogenic
2	32136640	T	G	T32136640G	SPAST	NM_014946.4(SPAST):c.1321+2T>G	noncoding	Pathogenic
2	32136876	G	A	G32136876A	SPAST	NM_014946.4(SPAST):c.1322-1G>A	noncoding	Pathogenic
2	32136876	G	T	G32136876T	SPAST	NM_014946.4(SPAST):c.1322-1G>T	noncoding	Pathogenic
2	32136899	T	A	T32136899A	SPAST	NM_014946.4(SPAST):c.1344T>A:p.Cys448Ter	coding	Pathogenic
2	32136937	T	C	T32136937C	SPAST	NM_014946.4(SPAST):c.1382T>C:p.Leu461Pro	coding	Pathogenic
2	32136939	A	C	A32136939C	SPAST	NM_014946.4(SPAST):c.1384A>C:p.Lys462Gln	coding	Pathogenic
2	32136951	C	G	C32136951G	SPAST	NM_014946.4(SPAST):c.1396C>G:p.Leu466Val	coding	Pathogenic
2	32136960	T	G	T32136960G	SPAST	NM_014946.4(SPAST):c.1405T>G:p.Phe469Val	coding	Pathogenic
2	32136974	T	C	T32136974C	SPAST	NM_014946.4(SPAST):c.1413+6T>C	noncoding	Pathogenic
2	32137107	A	T	A32137107T	SPAST	NM_014946.4(SPAST):c.1414-2A>T	noncoding	Pathogenic
2	32137151	A	G	A32137151G	SPAST	NM_014946.4(SPAST):c.1456A>G:p.Thr486Ala	coding	Pathogenic/Likely_pathogenic
2	32137155	A	G	A32137155G	SPAST	NM_014946.4(SPAST):c.1460A>G:p.Asn487Ser	coding	Pathogenic
2	32137157	A	G	A32137157G	SPAST	NM_014946.4(SPAST):c.1462A>G:p.Arg488Gly	coding	Pathogenic
2	32137161	C	T	C32137161T	SPAST	NM_014946.4(SPAST):c.1466C>T:p.Pro489Leu	coding	Pathogenic
2	32137167	A	G	A32137167G	SPAST	NM_014946.4(SPAST):c.1472A>G:p.Glu491Gly	coding	Pathogenic
2	32141903	G	A	G32141903A	SPAST	NM_014946.4(SPAST):c.1494-1G>A	noncoding	Pathogenic
2	32141946	G	T	G32141946T	SPAST	NM_014946.4(SPAST):c.1536G>T:p.Glu512Asp	coding	Pathogenic
2	32141947	G	T	G32141947T	SPAST	NM_014946.4(SPAST):c.1536+1G>T	coding	Pathogenic
2	32143328	T	G	T32143328G	SPAST	NM_014946.4(SPAST):c.1537-8T>G	noncoding	Pathogenic
2	32143349	T	C	T32143349C	SPAST	NM_014946.4(SPAST):c.1550T>C:p.Leu517Ser	coding	Pathogenic
2	32143390	C	T	C32143390T	SPAST	NM_014946.4(SPAST):c.1591C>T:p.Gln531Ter	coding	Pathogenic
2	32143400	T	C	T32143400C	SPAST	NM_014946.4(SPAST):c.1601T>C:p.Leu534Pro	coding	Pathogenic
2	32143405	C	T	C32143405T	SPAST	NM_014946.4(SPAST):c.1606C>T:p.Gln536Ter	coding	Pathogenic
2	32143416	G	A	G32143416A	SPAST	NM_014946.4(SPAST):c.1616+1G>A	coding	Pathogenic/Likely_pathogenic
2	32143420	G	A	G32143420A	SPAST	NM_014946.4(SPAST):c.1616+5G>A	noncoding	Pathogenic
2	32144832	T	C	T32144832C	SPAST	NM_014946.4(SPAST):c.1617-105T>C	noncoding	Benign
2	32144956	G	C	G32144956C	SPAST	NM_014946.4(SPAST):c.1636G>C:p.Gly546Arg	coding	Pathogenic
2	32144986	G	C	G32144986C	SPAST	NM_014946.4(SPAST):c.1666G>C:p.Ala556Pro	coding	Pathogenic
2	32144987	C	T	C32144987T	SPAST	NM_014946.4(SPAST):c.1667C>T:p.Ala556Val	coding	Pathogenic
2	32145189	C	A	C32145189A	SPAST	NM_014946.4(SPAST):c.1687+182C>A	noncoding	Benign
2	32147027	A	T	A32147027T	SPAST	NM_014946.4(SPAST):c.1688-191A>T	noncoding	Benign
2	32147245	T	C	T32147245C	SPAST	NM_014946.4(SPAST):c.1715T>C:p.Met572Thr	coding	Pathogenic
2	32147260	T	G	T32147260G	SPAST	NM_014946.4(SPAST):c.1728+2T>G	noncoding	Pathogenic
2	32147274	A	G	A32147274G	SPAST	NM_014946.4(SPAST):c.1728+16A>G	noncoding	Benign/Likely_benign
2	32154386	C	T	C32154386T	SPAST	NM_014946.4(SPAST):c.1741C>T:p.Arg581Ter	coding	Pathogenic
2	32154387	G	C	G32154387C	SPAST	NM_014946.4(SPAST):c.1742G>C:p.Arg581Pro	coding	Pathogenic
2	32154420	T	A	T32154420A	SPAST	NM_014946.4(SPAST):c.1775T>A:p.Ile592Lys	coding	Pathogenic/Likely_pathogenic
2	32154494	T	G	T32154494G	SPAST	NM_014946.4(SPAST):c.1849T>G:p.Ter617Glu	coding	Pathogenic/Likely_pathogenic
2	32224810	T	A	T32224810A	NLRC4	NM_001199138.2(NLRC4):c.2783-45A>T	noncoding	Benign
2	32235279	A	G	A32235279G	NLRC4	NM_001199138.2(NLRC4):c.2782+122T>C	noncoding	Benign
2	32235552	C	G	C32235552G	NLRC4	NM_001199138.2(NLRC4):c.2631G>C:p.Val877=	coding	Benign
2	32236235	T	A	T32236235A	NLRC4	NM_001199138.2(NLRC4):c.2614+12A>T	noncoding	Benign/Likely_benign
2	32240960	A	G	A32240960G	NLRC4	NM_001199138.2(NLRC4):c.2350+73T>C	noncoding	Benign
2	32241024	A	G	A32241024G	NLRC4	NM_001199138.2(NLRC4):c.2350+9T>C	noncoding	Benign
2	32249587	A	T	A32249587T	NLRC4	NM_001199138.2(NLRC4):c.2257+20T>A	noncoding	Benign
2	32250124	T	C	T32250124C	NLRC4	NM_001199138.2(NLRC4):c.1740A>G:p.Gln580=	coding	Benign
2	32250336	C	T	C32250336T	NLRC4	NM_001199138.2(NLRC4):c.1528G>A:p.Ala510Thr	coding	Benign
2	32250843	C	G	C32250843G	NLRC4	NM_001199138.2(NLRC4):c.1021G>C:p.Val341Leu	coding	Pathogenic
2	32250848	A	G	A32250848G	NLRC4	NM_001199138.2(NLRC4):c.1016T>C:p.Leu339Pro	coding	Pathogenic
2	32488639	A	T	A32488639T	BIRC6	NM_016252.4(BIRC6):c.8020A>T:p.Thr2674Ser	coding	Benign
2	33364247	T	A	T33364247A	LTBP1	NM_206943.4(LTBP1):c.4431T>A:p.Cys1477Ter	coding	Pathogenic
2	36849355	A	C	A36849355C	STRN	NM_003162.4(STRN):c.*101T>G	noncoding	Benign
2	36849451	T	C	T36849451C	STRN	NM_003162.4(STRN):c.*5A>G	noncoding	Benign
2	36849872	C	A	C36849872A	STRN	NM_003162.4(STRN):c.2087-72G>T	noncoding	Benign
2	36850033	G	A	G36850033A	STRN	NM_003162.4(STRN):c.2087-233C>T	noncoding	Benign
2	36854891	G	A	G36854891A	STRN	NM_003162.4(STRN):c.1978+321C>T	noncoding	Benign
2	36855552	C	T	C36855552T	STRN	NM_003162.4(STRN):c.1838-200G>A	noncoding	Benign
2	36858331	G	A	G36858331A	STRN	NM_003162.4(STRN):c.1670-308C>T	noncoding	Benign
2	36860797	A	G	A36860797G	STRN	NM_003162.4(STRN):c.1669+335T>C	noncoding	Benign
2	36860940	C	T	C36860940T	STRN	NM_003162.4(STRN):c.1669+192G>A	noncoding	Benign
2	36867661	C	T	C36867661T	STRN	NM_003162.4(STRN):c.1547+153G>A	noncoding	Benign
2	36867802	A	G	A36867802G	STRN	NM_003162.4(STRN):c.1547+12T>C	noncoding	Benign
2	36867996	G	C	G36867996C	STRN	NM_003162.4(STRN):c.1500-135C>G	noncoding	Benign
2	36868063	T	C	T36868063C	STRN	NM_003162.4(STRN):c.1500-202A>G	noncoding	Benign
2	36869827	C	T	C36869827T	STRN	NM_003162.4(STRN):c.1324-98G>A	noncoding	Benign
2	36869866	T	C	T36869866C	STRN	NM_003162.4(STRN):c.1324-137A>G	noncoding	Benign
2	36878035	G	A	G36878035A	STRN	NM_003162.4(STRN):c.1187-8C>T	noncoding	Benign
2	36883902	T	A	T36883902A	STRN	NM_003162.4(STRN):c.1186+30A>T	noncoding	Benign
2	36899508	A	C	A36899508C	STRN	NM_003162.4(STRN):c.795+15T>G	noncoding	Benign
2	36915997	A	G	A36915997G	STRN	NM_003162.4(STRN):c.412+81T>C	noncoding	Benign
2	36925229	A	C	A36925229C	STRN	NM_003162.4(STRN):c.235-21T>G	noncoding	Benign
2	36925282	T	C	T36925282C	STRN	NM_003162.4(STRN):c.235-74A>G	noncoding	Benign
2	37109260	G	C	G37109260C	EIF2AK2	NM_001135651.3(EIF2AK2):c.1413C>G:p.Leu471=	coding	Benign
2	37122547	C	T	C37122547T	EIF2AK2	NM_001135651.3(EIF2AK2):c.1026G>A:p.Glu342=	coding	Benign
2	37138497	G	A	G37138497A	EIF2AK2	NM_001135651.3(EIF2AK2):c.593+12C>T	noncoding	Benign
2	37149148	G	A	G37149148A	EIF2AK2	NM_001135651.3(EIF2AK2):c.-183-125C>T	noncoding	Benign
2	37231525	G	A	G37231525A	NDUFAF7	NM_005760.3(CEBPZ):c.43C>T:p.Pro15Ser	coding	Benign
2	37231568	G	A	G37231568A	NDUFAF7	NM_005760.3(CEBPZ):c.-1C>T	coding	Benign
2	37231714	A	G	A37231714G	NDUFAF7	NM_144736.5(NDUFAF7):c.9A>G:p.Val3=	coding	Benign
2	37232040	C	T	C37232040T	NDUFAF7	NM_144736.5(NDUFAF7):c.56-66C>T	noncoding	Benign
2	37243523	T	A	T37243523A	NDUFAF7	NM_144736.5(NDUFAF7):c.682-340T>A	noncoding	Benign
2	37243613	C	T	C37243613T	NDUFAF7	NM_144736.5(NDUFAF7):c.682-250C>T	noncoding	Benign
2	37247243	G	A	G37247243A	NDUFAF7	NM_144736.5(NDUFAF7):c.937-213G>A	noncoding	Benign
2	38071264	C	T	C38071264T	CYP1B1	NM_000104.4(CYP1B1):c.1090G>A:p.Val364Met	coding	Pathogenic
2	38071291	G	A	G38071291A	CYP1B1	NM_000104.4(CYP1B1):c.1063C>T:p.Arg355Ter	coding	Pathogenic
2	38074549	G	T	G38074549T	CYP1B1	NM_000104.4(CYP1B1):c.840C>A:p.Cys280Ter	coding	Pathogenic
2	38075208	C	T	C38075208T	CYP1B1	NM_000104.4(CYP1B1):c.181G>A:p.Gly61Arg	coding	Pathogenic
2	38075334	G	A	G38075334A	CYP1B1	NM_000104.4(CYP1B1):c.55C>T:p.Gln19Ter	coding	Pathogenic
2	38075354	G	A	G38075354A	CYP1B1	NM_000104.4(CYP1B1):c.35C>T:p.Pro12Leu	coding	Benign
2	38075388	T	C	T38075388C	CYP1B1	NM_000104.4(CYP1B1):c.1A>G:p.Met1Val	coding	Pathogenic
2	38075403	G	A	G38075403A	CYP1B1	NM_000104.4(CYP1B1):c.-1-14C>T	noncoding	Benign/Likely_benign
2	38075651	C	T	C38075651T	CYP1B1	NM_000104.4(CYP1B1):c.-2+129G>A	noncoding	Benign
2	38075953	G	A	G38075953A	CYP1B1	NM_000104.4(CYP1B1):c.-175C>T	noncoding	Benign
2	38076389	G	A	G38076389A	CYP1B1	NC_000002.11:g.38303531G>A	noncoding	Benign
2	38665694	T	C	T38665694C	GALM	Single_allele	noncoding	Benign
2	38665926	A	G	A38665926G	GALM	Single_allele	noncoding	Benign
2	38666042	G	A	G38666042A	GALM	Single_allele	noncoding	Benign
2	38666308	G	A	G38666308A	GALM	NM_138801.3(GALM):c.147G>A:p.Gln49=	coding	Benign
2	38666518	A	G	A38666518G	GALM	NM_138801.3(GALM):c.190+167A>G	noncoding	Benign
2	38666535	G	A	G38666535A	GALM	NM_138801.3(GALM):c.190+184G>A	noncoding	Benign
2	38675880	T	A	T38675880A	GALM	NM_138801.3(GALM):c.191-32T>A	noncoding	Benign
2	38675965	C	T	C38675965T	GALM	NM_138801.3(GALM):c.244C>T:p.Arg82Ter	coding	Pathogenic
2	38676074	C	T	C38676074T	GALM	NM_138801.3(GALM):c.345+8C>T	noncoding	Benign
2	38681324	G	A	G38681324A	GALM	NM_138801.3(GALM):c.390G>A:p.Ser130=	coding	Benign
2	38689764	T	C	T38689764C	GALM	NM_138801.3(GALM):c.553-49T>C	noncoding	Benign
2	38689828	A	T	A38689828T	GALM	NM_138801.3(GALM):c.568A>T:p.Asn190Tyr	coding	Benign
2	38690021	T	C	T38690021C	GALM	NM_138801.3(GALM):c.634+127T>C	noncoding	Benign
2	38729805	A	G	A38729805G	GALM	NM_138801.3(GALM):c.776+108A>G	noncoding	Benign
2	38729913	T	C	T38729913C	GALM	NM_138801.3(GALM):c.776+216T>C	noncoding	Benign
2	38731757	C	G	C38731757G	GALM	NM_138801.3(GALM):c.799C>G:p.Arg267Gly	coding	Pathogenic
2	38731813	C	T	C38731813T	GALM	NM_138801.3(GALM):c.855C>T:p.Phe285=	coding	Benign
2	38731890	G	A	G38731890A	GALM	NM_138801.3(GALM):c.932G>A:p.Trp311Ter	coding	Pathogenic
2	38733303	A	G	A38733303G	GALM	NM_138801.3(GALM):c.952-185A>G	noncoding	Benign
2	38733349	A	G	A38733349G	GALM	NM_138801.3(GALM):c.952-139A>G	noncoding	Benign
2	38733476	T	C	T38733476C	GALM	NM_138801.3(GALM):c.952-12T>C	noncoding	Benign
2	38733519	G	A	G38733519A	GALM	NM_138801.3(GALM):c.983G>A:p.Gly328Asp	coding	Benign
2	38733681	A	G	A38733681G	GALM	NM_138801.3(GALM):c.*116A>G	noncoding	Benign
2	38985673	G	T	G38985673T	SOS1	NM_005633.4(SOS1):c.*151C>A	noncoding	Benign
2	38986055	T	C	T38986055C	SOS1	NM_005633.4(SOS1):c.3771A>G:p.Thr1257=	coding	Benign
2	38987466	A	G	A38987466G	SOS1	NM_005633.4(SOS1):c.3510+7T>C	noncoding	Benign
2	38987680	A	C	A38987680C	SOS1	NM_005633.4(SOS1):c.3392-89T>G	noncoding	Benign
2	38995091	T	C	T38995091C	SOS1	NM_005633.4(SOS1):c.3346+32A>G	noncoding	Benign
2	38995110	T	C	T38995110C	SOS1	NM_005633.4(SOS1):c.3346+13A>G	noncoding	Benign
2	38995376	A	G	A38995376G	SOS1	NM_005633.4(SOS1):c.3093T>C:p.Tyr1031=	coding	Benign/Likely_benign
2	38995431	T	C	T38995431C	SOS1	NM_005633.4(SOS1):c.3082-44A>G	noncoding	Benign
2	38996871	A	G	A38996871G	SOS1	NM_005633.4(SOS1):c.3081+51T>C	noncoding	Benign
2	38996879	T	G	T38996879G	SOS1	NM_005633.4(SOS1):c.3081+43A>C	noncoding	Benign
2	38997049	T	G	T38997049G	SOS1	NM_005633.4(SOS1):c.2965-11A>C	noncoding	Benign
2	38997086	T	C	T38997086C	SOS1	NM_005633.4(SOS1):c.2965-48A>G	noncoding	Benign
2	38997200	A	G	A38997200G	SOS1	NM_005633.4(SOS1):c.2964+53T>C	noncoding	Benign
2	38997678	T	A	T38997678A	SOS1	NM_005633.4(SOS1):c.2792-253A>T	noncoding	Benign
2	39006378	G	C	G39006378C	SOS1	NM_005633.4(SOS1):c.2791+34C>G	noncoding	Benign
2	39006551	G	C	G39006551C	SOS1	NM_005633.4(SOS1):c.2674-22C>G	noncoding	Benign/Likely_benign
2	39006987	A	G	A39006987G	SOS1	NM_005633.4(SOS1):c.2673+44T>C	noncoding	Benign
2	39006994	A	G	A39006994G	SOS1	NM_005633.4(SOS1):c.2673+37T>C	noncoding	Benign
2	39010751	T	C	T39010751C	SOS1	NM_005633.4(SOS1):c.2391-48A>G	noncoding	Benign
2	39010785	A	G	A39010785G	SOS1	NM_005633.4(SOS1):c.2391-82T>C	noncoding	Benign
2	39012120	A	C	A39012120C	SOS1	NM_005633.4(SOS1):c.2390+6T>G	noncoding	Benign
2	39012309	A	C	A39012309C	SOS1	NM_005633.4(SOS1):c.2207T>G:p.Ile736Arg	coding	Pathogenic/Likely_pathogenic
2	39012431	G	C	G39012431C	SOS1	NM_005633.4(SOS1):c.2168-83C>G	noncoding	Benign
2	39013409	G	T	G39013409T	SOS1	NM_005633.4(SOS1):c.2167+51C>A	noncoding	Benign
2	39013597	A	T	A39013597T	SOS1	NM_005633.4(SOS1):c.2064-34T>A	noncoding	Benign
2	39013607	A	G	A39013607G	SOS1	NM_005633.4(SOS1):c.2064-44T>C	noncoding	Benign
2	39013823	A	T	A39013823T	SOS1	NM_005633.4(SOS1):c.2063+44T>A	noncoding	Benign
2	39013974	C	T	C39013974T	SOS1	NM_005633.4(SOS1):c.1956G>A:p.Glu652=	coding	Benign/Likely_benign
2	39014039	T	C	T39014039C	SOS1	NM_005633.4(SOS1):c.1941-50A>G	noncoding	Benign
2	39014153	A	G	A39014153G	SOS1	NM_005633.4(SOS1):c.1941-164T>C	noncoding	Benign
2	39014815	T	C	T39014815C	SOS1	NM_005633.4(SOS1):c.1890A>G:p.Thr630=	coding	Benign
2	39014866	A	G	A39014866G	SOS1	NM_005633.4(SOS1):c.1859-20T>C	noncoding	Benign
2	39022760	T	G	T39022760G	SOS1	NM_005633.4(SOS1):c.1668A>C:p.Val556=	coding	Benign/Likely_benign
2	39022807	A	G	A39022807G	SOS1	NM_005633.4(SOS1):c.1621T>C:p.Leu541=	coding	Benign/Likely_benign
2	39022844	G	A	G39022844A	SOS1	NM_005633.4(SOS1):c.1584C>T:p.Ala528=	coding	Benign
2	39023238	A	T	A39023238T	SOS1	NM_005633.4(SOS1):c.1203-13T>A	noncoding	Benign/Likely_benign
2	39051123	G	C	G39051123C	SOS1	NM_005633.4(SOS1):c.864+21C>G	noncoding	Benign
2	39051225	G	T	G39051225T	SOS1	NM_005633.4(SOS1):c.783C>A:p.Gly261=	coding	Benign/Likely_benign
2	39051402	A	G	A39051402G	SOS1	NM_005633.4(SOS1):c.721-115T>C	noncoding	Benign
2	39054791	T	C	T39054791C	SOS1	NM_005633.4(SOS1):c.543A>G:p.Glu181=	coding	Benign/Likely_benign
2	39054938	A	G	A39054938G	SOS1	NM_005633.4(SOS1):c.511-115T>C	noncoding	Benign
2	39056591	G	A	G39056591A	SOS1	NM_005633.4(SOS1):c.510+111C>T	noncoding	Benign
2	39056904	T	C	T39056904C	SOS1	NM_005633.4(SOS1):c.346-38A>G	noncoding	Benign
2	39058621	G	C	G39058621C	SOS1	NM_005633.4(SOS1):c.345+52C>G	noncoding	Benign
2	39058811	A	T	A39058811T	SOS1	NM_005633.4(SOS1):c.214-7T>A	noncoding	Benign
2	39058814	T	C	T39058814C	SOS1	NM_005633.4(SOS1):c.214-10A>G	noncoding	Benign/Likely_benign
2	39120321	C	G	C39120321G	SOS1	NM_005633.4(SOS1):c.87+15G>C	noncoding	Benign/Likely_benign
2	42048524	T	C	T42048524C	PKDCC	NM_138370.3(PKDCC):c.325T>C:p.Ser109Pro	coding	Benign
2	42048586	C	G	C42048586G	PKDCC	NM_138370.3(PKDCC):c.387C>G:p.Arg129=	coding	Benign
2	42048679	T	C	T42048679C	PKDCC	NM_138370.3(PKDCC):c.480T>C:p.Gly160=	coding	Benign
2	42048733	C	T	C42048733T	PKDCC	NM_138370.3(PKDCC):c.534C>T:p.Cys178=	coding	Benign
2	42048736	G	C	G42048736C	PKDCC	NM_138370.3(PKDCC):c.537G>C:p.Val179=	coding	Benign
2	42048839	G	T	G42048839T	PKDCC	NM_138370.3(PKDCC):c.639+1G>T	coding	Pathogenic/Likely_pathogenic
2	42053308	G	A	G42053308A	PKDCC	NM_138370.3(PKDCC):c.709G>A:p.Ala237Thr	coding	Benign
2	42054086	G	T	G42054086T	PKDCC	NM_138370.3(PKDCC):c.813G>T:p.Leu271=	coding	Benign
2	42054172	G	A	G42054172A	PKDCC	NM_138370.3(PKDCC):c.899G>A:p.Arg300His	coding	Benign
2	42054302	C	T	C42054302T	PKDCC	NM_138370.3(PKDCC):c.1029C>T:p.Ala343=	coding	Benign
2	42055353	C	T	C42055353T	PKDCC	NM_138370.3(PKDCC):c.1182C>T:p.Ser394=	coding	Benign
2	42057206	A	G	A42057206G	PKDCC	NM_138370.3(PKDCC):c.1223-15A>G	noncoding	Benign
2	42057631	A	C	A42057631C	PKDCC	NM_138370.3(PKDCC):c.1425A>C:p.Gly475=	coding	Benign
2	42282878	A	G	A42282878G	EML4	NM_019063.5(EML4):c.847A>G:p.Lys283Glu	coding	Benign
2	42769679	G	A	G42769679A	HAAO	NM_012205.3(HAAO):c.630+34C>T	noncoding	Benign
2	42770474	G	A	G42770474A	HAAO	NM_012205.3(HAAO):c.440+19C>T	noncoding	Benign
2	42788547	G	T	G42788547T	HAAO	NM_012205.3(HAAO):c.141C>A:p.His47Gln	coding	Pathogenic
2	42788564	T	A	T42788564A	HAAO	NM_012205.3(HAAO):c.124A>T:p.Thr42Ser	coding	Benign
2	42788579	T	C	T42788579C	HAAO	NM_012205.3(HAAO):c.109A>G:p.Ile37Val	coding	Benign
2	42788617	G	A	G42788617A	HAAO	NM_012205.3(HAAO):c.81-10C>T	noncoding	Benign
2	43773993	G	C	G43773993C	DYNC2LI1	Single_allele	noncoding	Benign
2	43774000	C	T	C43774000T	DYNC2LI1	Single_allele	noncoding	Benign
2	43774077	C	T	C43774077T	DYNC2LI1	NM_016008.4(DYNC2LI1):c.-62C>T	noncoding	Benign
2	43774160	C	T	C43774160T	DYNC2LI1	NM_016008.4(DYNC2LI1):c.8+14C>T	noncoding	Benign
2	43774161	C	G	C43774161G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.8+15C>G	noncoding	Benign
2	43776871	T	C	T43776871C	DYNC2LI1	NM_016008.4(DYNC2LI1):c.98T>C:p.Phe33Ser	coding	Benign
2	43776960	T	G	T43776960G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.126+61T>G	noncoding	Benign
2	43783481	G	A	G43783481A	DYNC2LI1	NM_016008.4(DYNC2LI1):c.127-39G>A	noncoding	Benign
2	43783748	G	T	G43783748T	DYNC2LI1	NM_016008.4(DYNC2LI1):c.161+194G>T	noncoding	Benign
2	43787162	A	G	A43787162G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.162-19A>G	noncoding	Benign
2	43789463	G	A	G43789463A	DYNC2LI1	NM_016008.4(DYNC2LI1):c.232-170G>A	noncoding	Benign
2	43789662	C	T	C43789662T	DYNC2LI1	NM_016008.4(DYNC2LI1):c.261C>T:p.Leu87=	coding	Benign
2	43789746	C	G	C43789746G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.320+25C>G	noncoding	Benign
2	43794268	A	G	A43794268G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.321-189A>G	noncoding	Benign
2	43794417	T	C	T43794417C	DYNC2LI1	NM_016008.4(DYNC2LI1):c.321-40T>C	noncoding	Benign
2	43794687	T	A	T43794687A	DYNC2LI1	NM_016008.4(DYNC2LI1):c.507+44T>A	coding	Benign
2	43794953	A	G	A43794953G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.507+310A>G	coding	Benign
2	43795831	T	C	T43795831C	DYNC2LI1	NM_016008.4(DYNC2LI1):c.508-59T>C	noncoding	Benign
2	43800809	G	A	G43800809A	DYNC2LI1	NM_016008.4(DYNC2LI1):c.655-32G>A	noncoding	Benign
2	43800874	A	T	A43800874T	DYNC2LI1	NM_016008.4(DYNC2LI1):c.688A>T:p.Ile230Leu	coding	Benign
2	43800970	G	A	G43800970A	DYNC2LI1	NM_016008.4(DYNC2LI1):c.731+53G>A	noncoding	Benign
2	43801041	C	T	C43801041T	DYNC2LI1	NM_016008.4(DYNC2LI1):c.731+124C>T	noncoding	Benign
2	43801460	A	G	A43801460G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.732-179A>G	noncoding	Benign
2	43801584	G	A	G43801584A	DYNC2LI1	NM_016008.4(DYNC2LI1):c.732-55G>A	noncoding	Benign
2	43801634	C	T	C43801634T	DYNC2LI1	NM_016008.4(DYNC2LI1):c.732-5C>T	noncoding	Benign
2	43805050	C	G	C43805050G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.901-104C>G	noncoding	Benign
2	43805124	G	A	G43805124A	DYNC2LI1	NM_016008.4(DYNC2LI1):c.901-30G>A	noncoding	Benign
2	43809550	A	G	A43809550G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.994-155A>G	noncoding	Benign
2	43809661	A	G	A43809661G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.994-44A>G	noncoding	Benign
2	43809774	T	C	T43809774C	DYNC2LI1	NM_016008.4(DYNC2LI1):c.*7T>C	noncoding	Benign
2	43809783	T	C	T43809783C	DYNC2LI1	NM_016008.4(DYNC2LI1):c.*16T>C	noncoding	Benign
2	43809908	T	G	T43809908G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.*141T>G	noncoding	Benign
2	43813423	G	C	G43813423C	ABCG5	NM_022436.3(ABCG5):c.1763-114C>G	noncoding	Benign
2	43813519	A	G	A43813519G	ABCG5	NM_022436.3(ABCG5):c.1763-210T>C	noncoding	Benign
2	43814140	C	T	C43814140T	ABCG5	NM_022436.3(ABCG5):c.1762+337G>A	noncoding	Benign
2	43814755	T	G	T43814755G	ABCG5	NM_022436.3(ABCG5):c.1650-166A>C	noncoding	Benign
2	43820208	T	A	T43820208A	ABCG5	NM_022436.3(ABCG5):c.1464-108A>T	noncoding	Benign
2	43820391	C	T	C43820391T	ABCG5	NM_022436.3(ABCG5):c.1464-291G>A	noncoding	Benign
2	43822478	G	C	G43822478C	ABCG5	NM_022436.3(ABCG5):c.1463+319C>G	noncoding	Benign
2	43822510	T	G	T43822510G	ABCG5	NM_022436.3(ABCG5):c.1463+287A>C	noncoding	Benign
2	43822656	C	T	C43822656T	ABCG5	NM_022436.3(ABCG5):c.1463+141G>A	noncoding	Benign
2	43822733	C	T	C43822733T	ABCG5	NM_022436.3(ABCG5):c.1463+64G>A	noncoding	Benign
2	43822886	G	C	G43822886C	ABCG5	NM_022436.3(ABCG5):c.1374C>G:p.Tyr458Ter	coding	Pathogenic/Likely_pathogenic
2	43822913	G	A	G43822913A	ABCG5	NM_022436.3(ABCG5):c.1347C>T:p.Ser449_Asp450=	coding	Benign/Likely_benign
2	43823749	G	A	G43823749A	ABCG5	NM_022436.3(ABCG5):c.1324+164C>T	noncoding	Benign
2	43824751	A	T	A43824751T	ABCG5	NM_022436.3(ABCG5):c.904+138T>A	noncoding	Benign
2	43825063	C	A	C43825063A	ABCG5	NM_022436.3(ABCG5):c.775-45G>T	noncoding	Benign
2	43825277	C	T	C43825277T	ABCG5	NM_022436.3(ABCG5):c.775-259G>A	noncoding	Benign
2	43826381	C	A	C43826381A	ABCG5	NM_022436.3(ABCG5):c.774+1G>T	noncoding	Pathogenic
2	43826405	G	A	G43826405A	ABCG5	NM_022436.3(ABCG5):c.751C>T:p.Gln251Ter	coding	Pathogenic
2	43827852	G	A	G43827852A	ABCG5	NM_022436.3(ABCG5):c.634+131C>T	noncoding	Benign
2	43828248	C	T	C43828248T	ABCG5	NM_022436.3(ABCG5):c.502-133G>A	noncoding	Benign
2	43828307	G	A	G43828307A	ABCG5	NM_022436.3(ABCG5):c.502-192C>T	noncoding	Benign
2	43832299	G	A	G43832299A	ABCG5	NM_022436.3(ABCG5):c.266-216C>T	noncoding	Benign
2	43837645	G	A	G43837645A	ABCG5	NM_022436.3(ABCG5):c.265+189C>T	noncoding	Benign
2	43838755	G	A	G43838755A	ABCG5	NM_022436.3(ABCG5):c.-76C>T	noncoding	Pathogenic
2	43844213	T	A	T43844213A	ABCG8	NM_022437.3(ABCG8):c.64-294T>A	noncoding	Benign
2	43844486	C	A	C43844486A	ABCG8	NM_022437.3(ABCG8):c.64-21C>A	noncoding	Benign
2	43844694	A	C	A43844694C	ABCG8	NM_022437.3(ABCG8):c.165+86A>C	noncoding	Benign
2	43844713	G	C	G43844713C	ABCG8	NM_022437.3(ABCG8):c.165+105G>C	noncoding	Benign
2	43845946	T	C	T43845946C	ABCG8	NM_022437.3(ABCG8):c.166-209T>C	noncoding	Benign
2	43846014	G	A	G43846014A	ABCG8	NM_022437.3(ABCG8):c.166-141G>A	noncoding	Benign
2	43846517	T	C	T43846517C	ABCG8	NM_022437.3(ABCG8):c.322+206T>C	noncoding	Benign
2	43846742	T	C	T43846742C	ABCG8	NM_022437.3(ABCG8):c.322+431T>C	noncoding	Benign
2	43851622	C	T	C43851622T	ABCG8	NM_022437.3(ABCG8):c.361C>T:p.Arg121Ter	coding	Pathogenic
2	43851817	A	T	A43851817T	ABCG8	NM_022437.3(ABCG8):c.556A>T:p.Lys186Ter	coding	Pathogenic
2	43851865	T	C	T43851865C	ABCG8	NM_022437.3(ABCG8):c.561+43T>C	noncoding	Benign
2	43852171	C	A	C43852171A	ABCG8	NM_022437.3(ABCG8):c.562-183C>A	noncoding	Benign
2	43852262	G	A	G43852262A	ABCG8	NM_022437.3(ABCG8):c.562-92G>A	noncoding	Benign
2	43852532	C	T	C43852532T	ABCG8	NM_022437.3(ABCG8):c.694+46C>T	noncoding	Benign
2	43852785	T	G	T43852785G	ABCG8	NM_022437.3(ABCG8):c.881T>G:p.Leu294Ter	coding	Pathogenic
2	43853103	A	G	A43853103G	ABCG8	NM_022437.3(ABCG8):c.964+235A>G	noncoding	Benign
2	43853171	C	T	C43853171T	ABCG8	NM_022437.3(ABCG8):c.964+303C>T	noncoding	Benign
2	43853185	A	G	A43853185G	ABCG8	NM_022437.3(ABCG8):c.964+317A>G	noncoding	Benign
2	43871687	G	T	G43871687T	ABCG8	NM_022437.3(ABCG8):c.965-289G>T	noncoding	Benign
2	43871716	T	C	T43871716C	ABCG8	NM_022437.3(ABCG8):c.965-260T>C	noncoding	Benign
2	43871918	A	G	A43871918G	ABCG8	NM_022437.3(ABCG8):c.965-58A>G	noncoding	Benign
2	43872443	G	A	G43872443A	ABCG8	NM_022437.3(ABCG8):c.1211+137G>A	noncoding	Benign
2	43873710	T	C	T43873710C	ABCG8	NM_022437.3(ABCG8):c.1212-77T>C	noncoding	Benign
2	43873732	G	A	G43873732A	ABCG8	NM_022437.3(ABCG8):c.1212-55G>A	noncoding	Benign
2	43874090	A	G	A43874090G	ABCG8	NM_022437.3(ABCG8):c.1411+104A>G	noncoding	Benign
2	43874255	A	G	A43874255G	ABCG8	NM_022437.3(ABCG8):c.1412-152A>G	noncoding	Benign
2	43874291	T	A	T43874291A	ABCG8	NM_022437.3(ABCG8):c.1412-116T>A	noncoding	Benign
2	43874291	T	G	T43874291G	ABCG8	NM_022437.3(ABCG8):c.1412-116T>G	noncoding	Benign
2	43874471	T	A	T43874471A	ABCG8	NM_022437.3(ABCG8):c.1476T>A:p.Tyr492Ter	coding	Pathogenic
2	43874529	G	A	G43874529A	ABCG8	NM_022437.3(ABCG8):c.1488+46G>A	noncoding	Benign
2	43874572	T	C	T43874572C	ABCG8	NM_022437.3(ABCG8):c.1488+89T>C	noncoding	Benign
2	43874688	G	A	G43874688A	ABCG8	NM_022437.3(ABCG8):c.1488+205G>A	noncoding	Benign
2	43874745	T	C	T43874745C	ABCG8	NM_022437.3(ABCG8):c.1488+262T>C	noncoding	Benign
2	43874825	G	A	G43874825A	ABCG8	NM_022437.3(ABCG8):c.1489-321G>A	noncoding	Benign
2	43875058	T	C	T43875058C	ABCG8	NM_022437.3(ABCG8):c.1489-88T>C	noncoding	Benign
2	43875096	T	C	T43875096C	ABCG8	NM_022437.3(ABCG8):c.1489-50T>C	noncoding	Benign
2	43875313	G	A	G43875313A	ABCG8	NM_022437.3(ABCG8):c.1656G>A:p.Leu552=	coding	Benign/Likely_benign
2	43875409	G	A	G43875409A	ABCG8	NM_022437.3(ABCG8):c.1752G>A:p.Trp584Ter	coding	Pathogenic
2	43875435	T	C	T43875435C	ABCG8	NM_022437.3(ABCG8):c.1756+22T>C	noncoding	Benign
2	43875495	C	T	C43875495T	ABCG8	NM_022437.3(ABCG8):c.1756+82C>T	noncoding	Benign
2	43889697	C	T	C43889697T	LRPPRC	NM_133259.4(LRPPRC):c.4128+37G>A	noncoding	Benign
2	43899493	C	A	C43899493A	LRPPRC	NM_133259.4(LRPPRC):c.3682G>T:p.Glu1228Ter	coding	Pathogenic
2	43901558	T	C	T43901558C	LRPPRC	NM_133259.4(LRPPRC):c.3365-34A>G	noncoding	Benign
2	43901730	G	A	G43901730A	LRPPRC	NM_133259.4(LRPPRC):c.3365-206C>T	noncoding	Benign
2	43912335	A	G	A43912335G	LRPPRC	NM_133259.4(LRPPRC):c.3275+97T>C	noncoding	Benign
2	43918235	G	T	G43918235T	LRPPRC	NM_133259.4(LRPPRC):c.3039+21C>A	noncoding	Benign
2	43924919	A	G	A43924919G	LRPPRC	NM_133259.4(LRPPRC):c.2896+148T>C	noncoding	Benign
2	43925041	G	A	G43925041A	LRPPRC	NM_133259.4(LRPPRC):c.2896+26C>T	noncoding	Benign
2	43925133	C	A	C43925133A	LRPPRC	NM_133259.4(LRPPRC):c.2830G>T:p.Glu944Ter	coding	Pathogenic
2	43925175	G	C	G43925175C	LRPPRC	NM_133259.4(LRPPRC):c.2806-18C>G	noncoding	Benign
2	43925267	G	T	G43925267T	LRPPRC	NM_133259.4(LRPPRC):c.2806-110C>A	noncoding	Benign
2	43925856	C	G	C43925856G	LRPPRC	NM_133259.4(LRPPRC):c.2805+37G>C	noncoding	Benign
2	43934316	A	G	A43934316G	LRPPRC	NM_133259.4(LRPPRC):c.2630-20T>C	noncoding	Benign
2	43934318	A	G	A43934318G	LRPPRC	NM_133259.4(LRPPRC):c.2630-22T>C	noncoding	Benign
2	43945305	A	C	A43945305C	LRPPRC	NM_133259.4(LRPPRC):c.2296+27T>G	noncoding	Benign
2	43946156	G	A	G43946156A	LRPPRC	NM_133259.4(LRPPRC):c.2167C>T:p.Arg723Ter	coding	Pathogenic
2	43946157	A	T	A43946157T	LRPPRC	NM_133259.4(LRPPRC):c.2166T>A:p.Cys722Ter	coding	Pathogenic
2	43946283	T	G	T43946283G	LRPPRC	NM_133259.4(LRPPRC):c.2080-40A>C	noncoding	Benign
2	43948733	T	C	T43948733C	LRPPRC	NM_133259.4(LRPPRC):c.1736-215A>G	noncoding	Benign
2	43949590	T	C	T43949590C	LRPPRC	NM_133259.4(LRPPRC):c.1735+12A>G	noncoding	Benign
2	43950395	A	G	A43950395G	LRPPRC	NM_133259.4(LRPPRC):c.1677+178T>C	noncoding	Benign
2	43950899	G	T	G43950899T	LRPPRC	NM_133259.4(LRPPRC):c.1650-299C>A	noncoding	Benign
2	43960513	A	G	A43960513G	LRPPRC	NM_133259.4(LRPPRC):c.1582+28T>C	noncoding	Benign
2	43960690	A	C	A43960690C	LRPPRC	NM_133259.4(LRPPRC):c.1489-56T>G	noncoding	Benign
2	43963645	A	C	A43963645C	LRPPRC	NM_133259.4(LRPPRC):c.1431T>G:p.Tyr477Ter	coding	Pathogenic
2	43963941	A	G	A43963941G	LRPPRC	NM_133259.4(LRPPRC):c.1370-235T>C	noncoding	Benign
2	43974254	C	A	C43974254A	LRPPRC	NM_133259.4(LRPPRC):c.1051G>T:p.Glu351Ter	coding	Pathogenic
2	43974663	A	T	A43974663T	LRPPRC	NM_133259.4(LRPPRC):c.960T>A:p.Tyr320Ter	coding	Pathogenic
2	43975080	A	C	A43975080C	LRPPRC	NM_133259.4(LRPPRC):c.864+11T>G	noncoding	Benign/Likely_benign
2	43975235	A	G	A43975235G	LRPPRC	NM_133259.4(LRPPRC):c.738-18T>C	noncoding	Benign
2	43976244	C	T	C43976244T	LRPPRC	NM_133259.4(LRPPRC):c.651-15G>A	noncoding	Benign/Likely_benign
2	43976401	C	T	C43976401T	LRPPRC	NM_133259.4(LRPPRC):c.651-172G>A	noncoding	Benign
2	43976725	A	C	A43976725C	LRPPRC	NM_133259.4(LRPPRC):c.650+269T>G	noncoding	Benign
2	43976878	C	G	C43976878G	LRPPRC	NM_133259.4(LRPPRC):c.650+116G>C	noncoding	Benign
2	43977043	G	A	G43977043A	LRPPRC	NM_133259.4(LRPPRC):c.601C>T:p.Gln201Ter	coding	Pathogenic/Likely_pathogenic
2	43977296	T	C	T43977296C	LRPPRC	NM_133259.4(LRPPRC):c.470-20A>G	noncoding	Benign/Likely_benign
2	43982250	T	G	T43982250G	LRPPRC	NM_133259.4(LRPPRC):c.334A>C:p.Thr112Pro	coding	Benign
2	43982329	C	T	C43982329T	LRPPRC	NM_133259.4(LRPPRC):c.255G>A:p.Trp85Ter	coding	Pathogenic
2	43982340	G	A	G43982340A	LRPPRC	NM_133259.4(LRPPRC):c.244C>T:p.Gln82Ter	coding	Pathogenic
2	43982642	A	G	A43982642G	LRPPRC	NM_133259.4(LRPPRC):c.150-208T>C	noncoding	Benign
2	43995643	C	A	C43995643A	LRPPRC	NM_133259.4(LRPPRC):c.149+156G>T	noncoding	Benign
2	43995742	C	A	C43995742A	LRPPRC	NM_133259.4(LRPPRC):c.149+57G>T	noncoding	Benign
2	44280534	G	A	G44280534A	SLC3A1	NM_000341.4(SLC3A1):c.431-182G>A	noncoding	Benign
2	44281054	T	G	T44281054G	SLC3A1	NM_000341.4(SLC3A1):c.610+159T>G	noncoding	Benign
2	44281446	C	T	C44281446T	SLC3A1	NM_000341.4(SLC3A1):c.670C>T:p.Gln224Ter	coding	Pathogenic
2	44281696	G	A	G44281696A	SLC3A1	NM_000341.4(SLC3A1):c.765+155G>A	noncoding	Benign
2	44285832	G	A	G44285832A	SLC3A1	NM_000341.4(SLC3A1):c.766-200G>A	noncoding	Benign
2	44286030	A	C	A44286030C	SLC3A1	NM_000341.4(SLC3A1):c.766-2A>C	noncoding	Pathogenic
2	44299995	A	T	A44299995T	SLC3A1	NM_000341.4(SLC3A1):c.916A>T:p.Lys306Ter	coding	Pathogenic
2	44300282	T	A	T44300282A	SLC3A1	NM_000341.4(SLC3A1):c.1011+192T>A	noncoding	Benign
2	44300293	C	T	C44300293T	SLC3A1	NM_000341.4(SLC3A1):c.1011+203C>T	noncoding	Benign
2	44300980	C	T	C44300980T	SLC3A1	NM_000341.4(SLC3A1):c.1012-23C>T	noncoding	Benign
2	44301084	C	T	C44301084T	SLC3A1	NM_000341.4(SLC3A1):c.1093C>T:p.Arg365Trp	coding	Pathogenic/Likely_pathogenic
2	44301085	G	T	G44301085T	SLC3A1	NM_000341.4(SLC3A1):c.1094G>T:p.Arg365Leu	coding	Pathogenic/Likely_pathogenic
2	44304360	G	T	G44304360T	SLC3A1	NM_000341.4(SLC3A1):c.1332+22G>T	noncoding	Benign
2	44312574	T	A	T44312574A	SLC3A1	NM_000341.4(SLC3A1):c.1333-12T>A	noncoding	Benign
2	44312779	C	T	C44312779T	SLC3A1	NM_000341.4(SLC3A1):c.1500+26C>T	noncoding	Benign
2	44313926	C	G	C44313926G	SLC3A1	NM_000341.4(SLC3A1):c.1592C>G:p.Ser531Ter	coding	Pathogenic
2	44314203	C	G	C44314203G	SLC3A1	NM_000341.4(SLC3A1):c.1617+252C>G	noncoding	Benign
2	44319992	A	G	A44319992G	SLC3A1	NM_000341.4(SLC3A1):c.1618-207A>G	coding	Benign
2	44320003	A	G	A44320003G	SLC3A1	NM_000341.4(SLC3A1):c.1618-196A>G	coding	Benign
2	44320097	G	C	G44320097C	SLC3A1	NM_000341.4(SLC3A1):c.1618-102G>C	coding	Benign
2	44321474	T	C	T44321474C	PREPL	NM_001171613.2(PREPL):c.1828-29A>G	noncoding	Benign
2	44322065	A	G	A44322065G	PREPL	NM_001171613.2(PREPL):c.1754-165T>C	noncoding	Benign
2	44322090	G	A	G44322090A	PREPL	NM_001171613.2(PREPL):c.1754-190C>T	noncoding	Benign
2	44322596	A	G	A44322596G	PREPL	NM_001171613.2(PREPL):c.1753+135T>C	noncoding	Benign
2	44322755	C	A	C44322755A	PREPL	NM_001171613.2(PREPL):c.1729G>T:p.Glu577Ter	coding	Pathogenic
2	44322869	A	G	A44322869G	PREPL	NM_001171613.2(PREPL):c.1630-15T>C	noncoding	Benign
2	44323094	C	T	C44323094T	PREPL	NM_001171613.2(PREPL):c.1629+168G>A	noncoding	Benign
2	44323151	A	G	A44323151G	PREPL	NM_001171613.2(PREPL):c.1629+111T>C	noncoding	Benign
2	44323532	A	C	A44323532C	PREPL	NM_001171613.2(PREPL):c.1480-121T>G	noncoding	Benign
2	44328936	C	T	C44328936T	PREPL	NM_001171613.2(PREPL):c.1262+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	44328938	G	A	G44328938A	PREPL	NM_001171613.2(PREPL):c.1261C>T:p.Arg421Ter	coding	Pathogenic
2	44329159	T	C	T44329159C	PREPL	NM_001171613.2(PREPL):c.1087-47A>G	noncoding	Benign
2	44332444	G	A	G44332444A	PREPL	NM_001171613.2(PREPL):c.1086+15C>T	noncoding	Benign
2	44332816	C	T	C44332816T	PREPL	NM_001171613.2(PREPL):c.889-160G>A	noncoding	Benign
2	44338154	G	A	G44338154A	PREPL	NM_001171613.2(PREPL):c.888+197C>T	noncoding	Benign
2	44338184	T	C	T44338184C	PREPL	NM_001171613.2(PREPL):c.888+167A>G	noncoding	Benign
2	44338308	A	T	A44338308T	PREPL	NM_001171613.2(PREPL):c.888+43T>A	noncoding	Benign
2	44339554	G	C	G44339554C	PREPL	NM_001171613.2(PREPL):c.486-191C>G	noncoding	Benign
2	44342189	T	A	T44342189A	PREPL	NM_001171613.2(PREPL):c.485+228A>T	noncoding	Benign
2	44342335	G	A	G44342335A	PREPL	NM_001171613.2(PREPL):c.485+82C>T	noncoding	Benign
2	44342725	T	C	T44342725C	PREPL	NM_001171613.2(PREPL):c.350-173A>G	noncoding	Benign
2	44343637	C	T	C44343637T	PREPL	NM_001171613.2(PREPL):c.349+108G>A	noncoding	Benign
2	44343665	C	A	C44343665A	PREPL	NM_001171613.2(PREPL):c.349+80G>T	noncoding	Benign
2	44343732	G	A	G44343732A	PREPL	NM_001171613.2(PREPL):c.349+13C>T	noncoding	Benign
2	44343898	G	A	G44343898A	PREPL	NM_001171613.2(PREPL):c.196C>T:p.Gln66Ter	coding	Pathogenic
2	44343970	G	A	G44343970A	PREPL	NM_001171613.2(PREPL):c.143-19C>T	noncoding	Benign
2	44344136	C	T	C44344136T	PREPL	NM_001171613.2(PREPL):c.143-185G>A	noncoding	Benign
2	44344710	G	A	G44344710A	PREPL	NM_001171613.2(PREPL):c.76-124C>T	noncoding	Benign
2	44346251	G	C	G44346251C	PREPL	NM_001171613.2(PREPL):c.75+17C>G	noncoding	Benign
2	44346485	G	A	G44346485A	PREPL	NM_001171613.2(PREPL):c.-48-95C>T	noncoding	Benign
2	44346485	G	C	G44346485C	PREPL	NM_001171613.2(PREPL):c.-48-95C>G	noncoding	Benign
2	44346519	T	C	T44346519C	PREPL	NM_001171613.2(PREPL):c.-48-129A>G	noncoding	Benign
2	44346532	G	T	G44346532T	PREPL	NM_001171613.2(PREPL):c.-48-142C>A	noncoding	Benign
2	44359482	T	C	T44359482C	PREPL	NM_001171613.2(PREPL):c.-49+1898A>G	noncoding	Benign
2	44359578	A	T	A44359578T	PREPL	NM_001171613.2(PREPL):c.-49+1802T>A	coding	Pathogenic
2	44359646	G	A	G44359646A	PREPL	NM_001171613.2(PREPL):c.-49+1734C>T	coding	Pathogenic
2	44942455	G	A	G44942455A	SIX3	NM_005413.4(SIX3):c.351G>A:p.Val117=	coding	Benign/Likely_benign
2	44943053	G	C	G44943053C	SIX3	NM_005413.4(SIX3):c.806+143G>C	noncoding	Benign
2	44943055	A	G	A44943055G	SIX3	NM_005413.4(SIX3):c.806+145A>G	noncoding	Benign
2	45006324	G	A	G45006324A	SIX2	NM_016932.5(SIX2):c.722C>T:p.Pro241Leu	coding	Benign/Likely_benign
2	45006637	C	G	C45006637G	SIX2	NM_016932.5(SIX2):c.561-152G>C	noncoding	Benign
2	45006663	G	T	G45006663T	SIX2	NM_016932.5(SIX2):c.561-178C>A	noncoding	Benign
2	45009664	T	G	T45009664G	SIX2	Single_allele	noncoding	Benign
2	46297151	G	C	G46297151C	EPAS1	Single_allele	noncoding	Benign
2	46297251	T	C	T46297251C	EPAS1	Single_allele	noncoding	Benign
2	46297264	G	C	G46297264C	EPAS1	Single_allele	noncoding	Benign
2	46297273	G	A	G46297273A	EPAS1	Single_allele	noncoding	Benign
2	46298116	G	A	G46298116A	EPAS1	NM_001430.5(EPAS1):c.26+179G>A	noncoding	Benign
2	46298252	G	C	G46298252C	EPAS1	NM_001430.5(EPAS1):c.26+315G>C	noncoding	Benign
2	46356048	A	T	A46356048T	EPAS1	NM_001430.5(EPAS1):c.218-103A>T	noncoding	Benign
2	46356096	C	A	C46356096A	EPAS1	NM_001430.5(EPAS1):c.218-55C>A	noncoding	Benign
2	46356454	G	A	G46356454A	EPAS1	NM_001430.5(EPAS1):c.369+152G>A	noncoding	Benign
2	46356920	T	G	T46356920G	EPAS1	NM_001430.5(EPAS1):c.454+112T>G	noncoding	Benign
2	46361349	G	T	G46361349T	EPAS1	NM_001430.5(EPAS1):c.779+259G>T	noncoding	Benign
2	46370157	T	C	T46370157C	EPAS1	NM_001430.5(EPAS1):c.886+224T>C	noncoding	Benign
2	46375539	C	A	C46375539A	EPAS1	NM_001430.5(EPAS1):c.887-151C>A	noncoding	Benign
2	46375583	T	C	T46375583C	EPAS1	NM_001430.5(EPAS1):c.887-107T>C	noncoding	Benign
2	46375939	C	T	C46375939T	EPAS1	NM_001430.5(EPAS1):c.1034+102C>T	noncoding	Benign
2	46375949	A	G	A46375949G	EPAS1	NM_001430.5(EPAS1):c.1034+112A>G	noncoding	Benign
2	46376026	A	G	A46376026G	EPAS1	NM_001430.5(EPAS1):c.1034+189A>G	noncoding	Benign
2	46376299	A	G	A46376299G	EPAS1	NM_001430.5(EPAS1):c.1035-240A>G	noncoding	Benign
2	46376501	A	C	A46376501C	EPAS1	NM_001430.5(EPAS1):c.1035-38A>C	noncoding	Benign
2	46376791	C	T	C46376791T	EPAS1	NM_001430.5(EPAS1):c.1249+38C>T	noncoding	Benign
2	46376904	C	T	C46376904T	EPAS1	NM_001430.5(EPAS1):c.1249+151C>T	noncoding	Benign
2	46377718	T	C	T46377718C	EPAS1	NM_001430.5(EPAS1):c.1250-176T>C	noncoding	Benign
2	46378148	A	G	A46378148G	EPAS1	NM_001430.5(EPAS1):c.1443+61A>G	noncoding	Benign
2	46378438	C	T	C46378438T	EPAS1	NM_001430.5(EPAS1):c.1444-219C>T	noncoding	Benign
2	46378520	A	G	A46378520G	EPAS1	NM_001430.5(EPAS1):c.1444-137A>G	noncoding	Benign
2	46378796	T	G	T46378796G	EPAS1	NM_001430.5(EPAS1):c.1554+29T>G	noncoding	Benign
2	46378815	G	C	G46378815C	EPAS1	NM_001430.5(EPAS1):c.1554+48G>C	noncoding	Benign
2	46379942	A	G	A46379942G	EPAS1	NM_001430.5(EPAS1):c.1555-285A>G	noncoding	Benign
2	46380276	T	C	T46380276C	EPAS1	NM_001430.5(EPAS1):c.1604T>C:p.Met535Thr	coding	Pathogenic
2	46381403	C	G	C46381403G	EPAS1	NM_001430.5(EPAS1):c.2046-193C>G	noncoding	Benign
2	46381906	C	G	C46381906G	EPAS1	NM_001430.5(EPAS1):c.2173-69C>G	noncoding	Benign
2	46381948	C	T	C46381948T	EPAS1	NM_001430.5(EPAS1):c.2173-27C>T	noncoding	Benign
2	46382399	G	A	G46382399A	EPAS1	NM_001430.5(EPAS1):c.2288-26G>A	noncoding	Benign
2	46382625	C	G	C46382625G	EPAS1	NM_001430.5(EPAS1):c.2461+27C>G	noncoding	Benign
2	46382818	A	G	A46382818G	EPAS1	NM_001430.5(EPAS1):c.2461+220A>G	noncoding	Benign
2	46382822	A	T	A46382822T	EPAS1	NM_001430.5(EPAS1):c.2461+224A>T	noncoding	Benign
2	46382827	A	T	A46382827T	EPAS1	NM_001430.5(EPAS1):c.2461+229A>T	noncoding	Benign
2	46382832	A	C	A46382832C	EPAS1	NM_001430.5(EPAS1):c.2461+234A>C	noncoding	Benign
2	46384332	G	A	G46384332A	EPAS1	NM_001430.5(EPAS1):c.2462-177G>A	noncoding	Benign
2	46592506	G	C	G46592506C	PIGF	NM_002643.4(PIGF):c.515C>G:p.Pro172Arg	coding	Pathogenic
2	46617108	G	T	G46617108T	CRIPT	Single_allele	noncoding	Benign
2	46617477	T	C	T46617477C	CRIPT	NM_014171.6(CRIPT):c.16+179T>C	noncoding	Benign
2	46617518	C	G	C46617518G	CRIPT	NM_014171.6(CRIPT):c.16+220C>G	noncoding	Benign
2	46618710	A	G	A46618710G	CRIPT	NM_014171.6(CRIPT):c.17-63A>G	noncoding	Benign
2	46623432	G	A	G46623432A	CRIPT	NM_014171.6(CRIPT):c.138-332G>A	noncoding	Benign
2	46623776	T	A	T46623776A	CRIPT	NM_014171.6(CRIPT):c.150T>A:p.Tyr50Ter	coding	Pathogenic
2	46623886	C	T	C46623886T	CRIPT	NM_014171.6(CRIPT):c.241+19C>T	noncoding	Benign
2	46623887	G	A	G46623887A	CRIPT	NM_014171.6(CRIPT):c.241+20G>A	noncoding	Benign
2	46624043	T	A	T46624043A	CRIPT	NM_014171.6(CRIPT):c.242-120T>A	noncoding	Benign
2	46624044	T	A	T46624044A	CRIPT	NM_014171.6(CRIPT):c.242-119T>A	noncoding	Benign
2	46905717	G	A	G46905717A	MCFD2	NM_139279.6(MCFD2):c.310-123C>T	noncoding	Benign
2	46905806	G	T	G46905806T	MCFD2	NM_139279.6(MCFD2):c.310-212C>A	noncoding	Benign
2	46905916	T	C	T46905916C	MCFD2	NM_139279.6(MCFD2):c.310-322A>G	noncoding	Benign
2	46907765	G	A	G46907765A	MCFD2	NM_139279.6(MCFD2):c.309+45C>T	noncoding	Benign
2	46908107	A	G	A46908107G	MCFD2	NM_139279.6(MCFD2):c.150-138T>C	noncoding	Benign
2	46908840	T	C	T46908840C	MCFD2	NM_139279.6(MCFD2):c.149+183A>G	noncoding	Benign
2	46909478	C	A	C46909478A	MCFD2	NM_139279.6(MCFD2):c.-6-301G>T	noncoding	Benign
2	46917031	A	C	A46917031C	TTC7A	NM_001171508.2(MCFD2):c.-6-7854T>G	noncoding	Benign
2	46917064	C	G	C46917064G	TTC7A	NM_001171508.2(MCFD2):c.-6-7887G>C	noncoding	Benign
2	46917393	T	C	T46917393C	TTC7A	NM_001171508.2(MCFD2):c.-6-8216A>G	noncoding	Benign
2	46917490	A	G	A46917490G	TTC7A	NM_001171508.2(MCFD2):c.-6-8313T>C	noncoding	Benign
2	46940847	T	C	T46940847C	TTC7A	NM_001171508.2(MCFD2):c.-7+725A>G	noncoding	Benign
2	46940931	A	G	A46940931G	TTC7A	NM_001171508.2(MCFD2):c.-7+641T>C	noncoding	Benign
2	46941188	C	A	C46941188A	TTC7A	NM_001171508.2(MCFD2):c.-7+384G>T	coding	Benign
2	46941458	C	A	C46941458A	TTC7A	NM_020458.4(TTC7A):c.-84C>A	coding	Benign
2	46941753	G	C	G46941753C	TTC7A	NM_020458.4(TTC7A):c.184+28G>C	coding	Benign
2	46941864	C	T	C46941864T	TTC7A	NM_020458.4(TTC7A):c.184+139C>T	noncoding	Benign
2	46941960	A	C	A46941960C	TTC7A	NM_020458.4(TTC7A):c.184+235A>C	noncoding	Benign
2	46950473	A	G	A46950473G	TTC7A	NM_020458.4(TTC7A):c.295A>G:p.Met99Val	coding	Pathogenic
2	46950538	G	A	G46950538A	TTC7A	NM_020458.4(TTC7A):c.348+12G>A	noncoding	Benign
2	46950648	G	T	G46950648T	TTC7A	NM_020458.4(TTC7A):c.348+122G>T	noncoding	Benign
2	46957018	G	A	G46957018A	TTC7A	NM_020458.4(TTC7A):c.517+11G>A	noncoding	Benign
2	46957308	C	T	C46957308T	TTC7A	NM_020458.4(TTC7A):c.517+301C>T	noncoding	Benign
2	46974849	C	T	C46974849T	TTC7A	NM_020458.4(TTC7A):c.518-124C>T	noncoding	Benign
2	46975123	G	A	G46975123A	TTC7A	NM_020458.4(TTC7A):c.648+20G>A	noncoding	Benign
2	46975175	C	T	C46975175T	TTC7A	NM_020458.4(TTC7A):c.648+72C>T	noncoding	Benign
2	46993146	T	G	T46993146G	TTC7A	NM_020458.4(TTC7A):c.765-304T>G	noncoding	Benign
2	46993202	C	T	C46993202T	TTC7A	NM_020458.4(TTC7A):c.765-248C>T	noncoding	Benign
2	46993275	T	A	T46993275A	TTC7A	NM_020458.4(TTC7A):c.765-175T>A	noncoding	Benign
2	46993483	G	A	G46993483A	TTC7A	NM_020458.4(TTC7A):c.798G>A:p.Glu266=	coding	Benign
2	46993645	G	A	G46993645A	TTC7A	NM_020458.4(TTC7A):c.843+117G>A	noncoding	Benign
2	46993701	G	A	G46993701A	TTC7A	NM_020458.4(TTC7A):c.843+173G>A	noncoding	Benign
2	46994054	C	T	C46994054T	TTC7A	NM_020458.4(TTC7A):c.844-303C>T	noncoding	Benign
2	46994058	G	C	G46994058C	TTC7A	NM_020458.4(TTC7A):c.844-299G>C	noncoding	Benign
2	46994076	A	C	A46994076C	TTC7A	NM_020458.4(TTC7A):c.844-281A>C	noncoding	Benign
2	46994238	C	T	C46994238T	TTC7A	NM_020458.4(TTC7A):c.844-119C>T	noncoding	Benign
2	46994554	A	G	A46994554G	TTC7A	NM_020458.4(TTC7A):c.1001+40A>G	noncoding	Benign
2	46994745	A	G	A46994745G	TTC7A	NM_020458.4(TTC7A):c.1001+231A>G	noncoding	Benign
2	46994789	T	C	T46994789C	TTC7A	NM_020458.4(TTC7A):c.1001+275T>C	noncoding	Benign
2	46994862	T	C	T46994862C	TTC7A	NM_020458.4(TTC7A):c.1002-274T>C	noncoding	Benign
2	46995097	G	T	G46995097T	TTC7A	NM_020458.4(TTC7A):c.1002-39G>T	noncoding	Benign
2	47005789	G	T	G47005789T	TTC7A	NM_020458.4(TTC7A):c.1066-133G>T	noncoding	Benign
2	47006072	A	G	A47006072G	TTC7A	NM_020458.4(TTC7A):c.1203+13A>G	noncoding	Benign
2	47006581	G	T	G47006581T	TTC7A	NM_020458.4(TTC7A):c.1204-60G>T	noncoding	Benign
2	47006583	G	A	G47006583A	TTC7A	NM_020458.4(TTC7A):c.1204-58G>A	noncoding	Benign
2	47006610	T	C	T47006610C	TTC7A	NM_020458.4(TTC7A):c.1204-31T>C	noncoding	Benign
2	47006632	C	T	C47006632T	TTC7A	NM_020458.4(TTC7A):c.1204-9C>T	noncoding	Benign
2	47006650	C	T	C47006650T	TTC7A	NM_020458.4(TTC7A):c.1213C>T:p.Arg405Ter	coding	Pathogenic
2	47011115	G	A	G47011115A	TTC7A	NM_020458.4(TTC7A):c.1288-216G>A	noncoding	Benign
2	47011492	C	T	C47011492T	TTC7A	NM_020458.4(TTC7A):c.1392+57C>T	noncoding	Benign
2	47021587	A	G	A47021587G	TTC7A	NM_020458.4(TTC7A):c.1393-275A>G	noncoding	Benign
2	47021588	T	C	T47021588C	TTC7A	NM_020458.4(TTC7A):c.1393-274T>C	noncoding	Benign
2	47021606	C	T	C47021606T	TTC7A	NM_020458.4(TTC7A):c.1393-256C>T	noncoding	Benign
2	47021694	A	G	A47021694G	TTC7A	NM_020458.4(TTC7A):c.1393-168A>G	noncoding	Benign
2	47021695	A	C	A47021695C	TTC7A	NM_020458.4(TTC7A):c.1393-167A>C	noncoding	Benign
2	47022100	A	G	A47022100G	TTC7A	NM_020458.4(TTC7A):c.1510+121A>G	noncoding	Benign
2	47022156	C	T	C47022156T	TTC7A	NM_020458.4(TTC7A):c.1510+177C>T	noncoding	Benign
2	47023340	T	C	T47023340C	TTC7A	NM_020458.4(TTC7A):c.1511-68T>C	noncoding	Benign
2	47023680	A	G	A47023680G	TTC7A	NM_020458.4(TTC7A):c.1568+215A>G	noncoding	Benign
2	47023986	A	G	A47023986G	TTC7A	NM_020458.4(TTC7A):c.1569-301A>G	noncoding	Benign
2	47024269	C	T	C47024269T	TTC7A	NM_020458.4(TTC7A):c.1569-18C>T	noncoding	Benign
2	47024330	G	C	G47024330C	TTC7A	NM_020458.4(TTC7A):c.1612G>C:p.Val538Leu	coding	Benign
2	47024339	C	T	C47024339T	TTC7A	NM_020458.4(TTC7A):c.1621C>T:p.Gln541Ter	coding	Pathogenic
2	47024376	C	T	C47024376T	TTC7A	NM_020458.4(TTC7A):c.1641+17C>T	noncoding	Benign
2	47024416	G	T	G47024416T	TTC7A	NM_020458.4(TTC7A):c.1641+57G>T	noncoding	Benign
2	47024495	T	C	T47024495C	TTC7A	NM_020458.4(TTC7A):c.1641+136T>C	noncoding	Benign
2	47024553	C	T	C47024553T	TTC7A	NM_020458.4(TTC7A):c.1641+194C>T	noncoding	Benign
2	47024559	T	C	T47024559C	TTC7A	NM_020458.4(TTC7A):c.1641+200T>C	noncoding	Benign
2	47024586	G	A	G47024586A	TTC7A	NM_020458.4(TTC7A):c.1641+227G>A	noncoding	Benign
2	47024588	C	G	C47024588G	TTC7A	NM_020458.4(TTC7A):c.1641+229C>G	noncoding	Benign
2	47024638	A	C	A47024638C	TTC7A	NM_020458.4(TTC7A):c.1641+279A>C	noncoding	Benign
2	47024639	C	T	C47024639T	TTC7A	NM_020458.4(TTC7A):c.1641+280C>T	noncoding	Benign
2	47028919	G	A	G47028919A	TTC7A	NM_020458.4(TTC7A):c.1642-305G>A	noncoding	Benign
2	47029158	C	T	C47029158T	TTC7A	NM_020458.4(TTC7A):c.1642-66C>T	noncoding	Benign
2	47029365	G	T	G47029365T	TTC7A	NM_020458.4(TTC7A):c.1783G>T:p.Glu595Ter	coding	Pathogenic
2	47029452	A	C	A47029452C	TTC7A	NM_020458.4(TTC7A):c.1802+68A>C	noncoding	Benign
2	47029479	A	G	A47029479G	TTC7A	NM_020458.4(TTC7A):c.1802+95A>G	noncoding	Benign
2	47029663	G	C	G47029663C	TTC7A	NM_020458.4(TTC7A):c.1802+279G>C	noncoding	Benign
2	47046432	G	A	G47046432A	TTC7A	NM_020458.4(TTC7A):c.1919+1G>A	coding	Pathogenic
2	47046442	G	C	G47046442C	TTC7A	NM_020458.4(TTC7A):c.1919+11G>C	noncoding	Benign
2	47046513	G	T	G47046513T	TTC7A	NM_020458.4(TTC7A):c.1919+82G>T	noncoding	Benign
2	47046529	G	A	G47046529A	TTC7A	NM_020458.4(TTC7A):c.1919+98G>A	noncoding	Benign
2	47046593	G	A	G47046593A	TTC7A	NM_020458.4(TTC7A):c.1919+162G>A	noncoding	Benign
2	47047304	G	T	G47047304T	TTC7A	NM_020458.4(TTC7A):c.1919+873G>T	coding	Benign
2	47047432	C	T	C47047432T	TTC7A	NM_020458.4(TTC7A):c.1919+1001C>T	noncoding	Benign
2	47049818	C	A	C47049818A	TTC7A	NM_020458.4(TTC7A):c.1920-131C>A	noncoding	Benign
2	47049896	C	T	C47049896T	TTC7A	NM_020458.4(TTC7A):c.1920-53C>T	noncoding	Benign
2	47049904	C	G	C47049904G	TTC7A	NM_020458.4(TTC7A):c.1920-45C>G	noncoding	Benign
2	47050068	C	A	C47050068A	TTC7A	NM_020458.4(TTC7A):c.2017+22C>A	noncoding	Benign
2	47050069	A	G	A47050069G	TTC7A	NM_020458.4(TTC7A):c.2017+23A>G	noncoding	Benign
2	47050147	G	A	G47050147A	TTC7A	NM_020458.4(TTC7A):c.2017+101G>A	noncoding	Benign
2	47050179	C	T	C47050179T	TTC7A	NM_020458.4(TTC7A):c.2017+133C>T	noncoding	Benign
2	47050259	C	T	C47050259T	TTC7A	NM_020458.4(TTC7A):c.2017+213C>T	noncoding	Benign
2	47051471	C	T	C47051471T	TTC7A	NM_020458.4(TTC7A):c.2018-275C>T	noncoding	Benign
2	47051647	G	T	G47051647T	TTC7A	NM_020458.4(TTC7A):c.2018-99G>T	noncoding	Benign
2	47051684	C	T	C47051684T	TTC7A	NM_020458.4(TTC7A):c.2018-62C>T	noncoding	Benign
2	47051727	G	T	G47051727T	TTC7A	NM_020458.4(TTC7A):c.2018-19G>T	noncoding	Benign
2	47051762	G	A	G47051762A	TTC7A	NM_020458.4(TTC7A):c.2034G>A:p.Ser678=	coding	Benign
2	47051874	C	T	C47051874T	TTC7A	NM_020458.4(TTC7A):c.2146C>T:p.Gln716Ter	coding	Pathogenic
2	47051900	T	C	T47051900C	TTC7A	NM_020458.4(TTC7A):c.2152+20T>C	noncoding	Benign/Likely_benign
2	47060668	C	A	C47060668A	TTC7A	NM_020458.4(TTC7A):c.2153-101C>A	noncoding	Benign
2	47061173	C	G	C47061173G	TTC7A	NM_020458.4(TTC7A):c.2355+202C>G	noncoding	Benign
2	47061262	G	C	G47061262C	TTC7A	NM_020458.4(TTC7A):c.2355+291G>C	noncoding	Benign
2	47073890	A	G	A47073890G	TTC7A	NM_020458.4(TTC7A):c.2544A>G:p.Val848=	coding	Benign
2	47161750	C	A	C47161750A	CALM2	NM_001743.6(CALM2):c.394G>T:p.Asp132Tyr	coding	Pathogenic
2	47161756	C	T	C47161756T	CALM2	NM_001743.6(CALM2):c.388G>A:p.Asp130Asn	coding	Pathogenic
2	47161804	C	T	C47161804T	CALM2	NM_001743.6(CALM2):c.340G>A:p.Gly114Arg	coding	Pathogenic
2	47161858	C	A	C47161858A	CALM2	NM_001743.6(CALM2):c.286G>T:p.Asp96Tyr	coding	Pathogenic
2	47162203	A	C	A47162203C	CALM2	NM_001743.6(CALM2):c.285+83T>G	noncoding	Benign
2	47162270	C	G	C47162270G	CALM2	NM_001743.6(CALM2):c.285+16G>C	noncoding	Benign/Likely_benign
2	47172276	G	A	G47172276A	CALM2	NM_001743.6(CALM2):c.4-1512C>T	coding	Benign
2	47172462	A	G	A47172462G	CALM2	NM_001743.6(CALM2):c.4-1698T>C	coding	Benign
2	47176244	G	T	G47176244T	CALM2	NM_001743.6(CALM2):c.3+197C>A	noncoding	Benign
2	47176660	G	C	G47176660C	CALM2	NM_001305625.2(CALM2):c.-106+189C>G	noncoding	Benign
2	47369005	C	G	C47369005G	EPCAM	Single_allele	noncoding	Benign
2	47369518	C	T	C47369518T	EPCAM	NM_002354.3(EPCAM):c.13C>T:p.Gln5Ter	coding	Pathogenic/Likely_pathogenic
2	47373546	C	T	C47373546T	EPCAM	NM_002354.3(EPCAM):c.160C>T:p.Gln54Ter	coding	Pathogenic
2	47373930	G	A	G47373930A	EPCAM	NM_002354.3(EPCAM):c.307G>A:p.Gly103Arg	coding	Pathogenic/Likely_pathogenic
2	47374118	T	C	T47374118C	EPCAM	NM_002354.3(EPCAM):c.425+70T>C	noncoding	Benign
2	47374268	A	G	A47374268G	EPCAM	NM_002354.3(EPCAM):c.425+220A>G	noncoding	Benign
2	47375039	A	T	A47375039T	EPCAM	NM_002354.3(EPCAM):c.426-195A>T	noncoding	Benign
2	47375102	T	C	T47375102C	EPCAM	NM_002354.3(EPCAM):c.426-132T>C	noncoding	Benign
2	47375431	C	G	C47375431G	EPCAM	NM_002354.3(EPCAM):c.491+132C>G	noncoding	Benign
2	47377139	A	G	A47377139G	EPCAM	NM_002354.3(EPCAM):c.555+62A>G	noncoding	Benign
2	47377239	G	T	G47377239T	EPCAM	NM_002354.3(EPCAM):c.555+162G>T	noncoding	Benign
2	47378700	C	T	C47378700T	EPCAM	NM_002354.3(EPCAM):c.556-253C>T	noncoding	Benign
2	47379544	T	C	T47379544C	EPCAM	NM_002354.3(EPCAM):c.658-225T>C	noncoding	Benign
2	47379635	A	G	A47379635G	EPCAM	NM_002354.3(EPCAM):c.658-134A>G	noncoding	Benign
2	47385017	A	G	A47385017G	EPCAM	NM_002354.3(EPCAM):c.859-149A>G	noncoding	Benign
2	47385067	T	C	T47385067C	EPCAM	NM_002354.3(EPCAM):c.859-99T>C	noncoding	Benign
2	47385085	C	T	C47385085T	EPCAM	NM_002354.3(EPCAM):c.859-81C>T	noncoding	Benign
2	47385211	G	A	G47385211A	EPCAM	NM_002354.3(EPCAM):c.903+1G>A	coding	Pathogenic
2	47385281	C	T	C47385281T	EPCAM	NM_002354.3(EPCAM):c.903+71C>T	noncoding	Benign
2	47386649	G	A	G47386649A	EPCAM	NM_002354.2(EPCAM):c.*36G>A	noncoding	Benign
2	47386731	T	C	T47386731C	EPCAM	NM_002354.2(EPCAM):c.*118T>C	noncoding	Benign
2	47386878	A	T	A47386878T	EPCAM	NM_002354.2(EPCAM):c.*265A>T	noncoding	Benign
2	47403384	A	T	A47403384T	MSH2	NM_000251.3(MSH2):c.193A>T:p.Lys65Ter	coding	Pathogenic
2	47403402	G	C	G47403402C	MSH2	NM_000251.3(MSH2):c.211G>C:p.Gly71Arg	coding	Pathogenic/Likely_pathogenic
2	47403402	G	T	G47403402T	MSH2	NM_000251.3(MSH2):c.211G>T:p.Gly71Ter	coding	Pathogenic
2	47403404	T	G	T47403404G	MSH2	NM_000251.3(MSH2):c.211+2T>G	noncoding	Pathogenic
2	47408445	G	T	G47408445T	MSH2	NM_000251.3(MSH2):c.256G>T:p.Glu86Ter	coding	Pathogenic
2	47408498	T	A	T47408498A	MSH2	NM_000251.3(MSH2):c.309T>A:p.Tyr103Ter	coding	Pathogenic
2	47408511	G	T	G47408511T	MSH2	NM_000251.3(MSH2):c.322G>T:p.Gly108Ter	coding	Pathogenic
2	47408540	G	A	G47408540A	MSH2	NM_000251.3(MSH2):c.351G>A:p.Trp117Ter	coding	Pathogenic
2	47408545	T	A	T47408545A	MSH2	NM_000251.3(MSH2):c.356T>A:p.Leu119Ter	coding	Pathogenic/Likely_pathogenic
2	47410008	A	C	A47410008C	MSH2	NM_000251.3(MSH2):c.367-86A>C	noncoding	Benign
2	47410121	G	T	G47410121T	MSH2	NM_000251.3(MSH2):c.394G>T:p.Glu132Ter	coding	Pathogenic
2	47410186	C	T	C47410186T	MSH2	NM_000251.3(MSH2):c.459C>T:p.Ser153=	coding	Benign/Likely_benign
2	47410247	G	T	G47410247T	MSH2	NM_000251.3(MSH2):c.520G>T:p.Gly174Ter	coding	Pathogenic
2	47410289	G	T	G47410289T	MSH2	NM_000251.3(MSH2):c.562G>T:p.Glu188Ter	coding	Pathogenic
2	47410310	G	T	G47410310T	MSH2	NM_000251.3(MSH2):c.583G>T:p.Gly195Ter	coding	Pathogenic
2	47410349	G	T	G47410349T	MSH2	NM_000251.3(MSH2):c.622G>T:p.Gly208Ter	coding	Pathogenic
2	47410361	A	T	A47410361T	MSH2	NM_000251.3(MSH2):c.634A>T:p.Lys212Ter	coding	Pathogenic
2	47410366	G	A	G47410366A	MSH2	NM_000251.3(MSH2):c.639G>A:p.Leu213=	coding	Benign/Likely_benign
2	47412190	A	G	A47412190G	MSH2	NM_000251.3(MSH2):c.646-224A>G	noncoding	Benign
2	47412423	A	T	A47412423T	MSH2	NM_000251.3(MSH2):c.655A>T:p.Arg219Ter	coding	Pathogenic
2	47412426	G	T	G47412426T	MSH2	NM_000251.3(MSH2):c.658G>T:p.Gly220Ter	coding	Pathogenic
2	47412444	G	T	G47412444T	MSH2	NM_000251.3(MSH2):c.676G>T:p.Glu226Ter	coding	Pathogenic
2	47412499	T	A	T47412499A	MSH2	NM_000251.3(MSH2):c.731T>A:p.Leu244Ter	coding	Pathogenic
2	47412510	A	T	A47412510T	MSH2	NM_000251.3(MSH2):c.742A>T:p.Lys248Ter	coding	Pathogenic
2	47412552	G	T	G47412552T	MSH2	NM_000251.3(MSH2):c.784G>T:p.Glu262Ter	coding	Pathogenic
2	47412562	T	G	T47412562G	MSH2	NM_000251.3(MSH2):c.792+2T>G	noncoding	Pathogenic/Likely_pathogenic
2	47414282	C	A	C47414282A	MSH2	NM_000251.3(MSH2):c.806C>A:p.Ser269Ter	coding	Pathogenic/Likely_pathogenic
2	47414282	C	G	C47414282G	MSH2	NM_000251.3(MSH2):c.806C>G:p.Ser269Ter	coding	Pathogenic
2	47414315	T	A	T47414315A	MSH2	NM_000251.3(MSH2):c.839T>A:p.Leu280Ter	coding	Pathogenic
2	47414424	A	G	A47414424G	MSH2	NM_000251.3(MSH2):c.942+6A>G	noncoding	Benign
2	47414425	A	G	A47414425G	MSH2	NM_000251.3(MSH2):c.942+7A>G	noncoding	Benign
2	47416135	C	T	C47416135T	MSH2	NM_000251.3(MSH2):c.943-161C>T	noncoding	Benign
2	47416136	G	A	G47416136A	MSH2	NM_000251.3(MSH2):c.943-160G>A	noncoding	Benign
2	47416294	A	T	A47416294T	MSH2	NM_000251.3(MSH2):c.943-2A>T	noncoding	Pathogenic
2	47416305	G	T	G47416305T	MSH2	NM_000251.3(MSH2):c.952G>T:p.Glu318Ter	coding	Pathogenic
2	47416339	T	A	T47416339A	MSH2	NM_000251.3(MSH2):c.986T>A:p.Leu329Ter	coding	Pathogenic
2	47416365	G	A	G47416365A	MSH2	NM_000251.3(MSH2):c.1012G>A:p.Gly338Arg	coding	Pathogenic
2	47416365	G	C	G47416365C	MSH2	NM_000251.3(MSH2):c.1012G>C:p.Gly338Arg	coding	Pathogenic/Likely_pathogenic
2	47416365	G	T	G47416365T	MSH2	NM_000251.3(MSH2):c.1012G>T:p.Gly338Ter	coding	Pathogenic
2	47416368	C	T	C47416368T	MSH2	NM_000251.3(MSH2):c.1015C>T:p.Gln339Ter	coding	Pathogenic/Likely_pathogenic
2	47416410	A	T	A47416410T	MSH2	NM_000251.3(MSH2):c.1057A>T:p.Lys353Ter	coding	Pathogenic
2	47416420	T	G	T47416420G	MSH2	NM_000251.3(MSH2):c.1067T>G:p.Ile356Arg	coding	Pathogenic
2	47416422	G	T	G47416422T	MSH2	NM_000251.3(MSH2):c.1069G>T:p.Glu357Ter	coding	Pathogenic
2	47416425	G	T	G47416425T	MSH2	NM_000251.3(MSH2):c.1072G>T:p.Glu358Ter	coding	Pathogenic
2	47429741	G	A	G47429741A	MSH2	NM_000251.3(MSH2):c.1077-1G>A	noncoding	Pathogenic
2	47429782	A	C	A47429782C	MSH2	NM_000251.3(MSH2):c.1117A>C:p.Arg373=	coding	Benign/Likely_benign
2	47429792	T	A	T47429792A	MSH2	NM_000251.3(MSH2):c.1127T>A:p.Leu376Ter	coding	Pathogenic
2	47429842	A	T	A47429842T	MSH2	NM_000251.3(MSH2):c.1177A>T:p.Lys393Ter	coding	Pathogenic
2	47429867	T	G	T47429867G	MSH2	NM_000251.3(MSH2):c.1202T>G:p.Leu401Ter	coding	Pathogenic
2	47429941	G	T	G47429941T	MSH2	NM_000251.3(MSH2):c.1276G>T:p.Gly426Ter	coding	Pathogenic
2	47445222	G	T	G47445222T	MSH2	NM_000251.3(MSH2):c.1277-326G>T	noncoding	Benign
2	47445532	T	C	T47445532C	MSH2	NM_000251.3(MSH2):c.1277-16T>C	noncoding	Benign/Likely_benign
2	47445550	A	T	A47445550T	MSH2	NM_000251.3(MSH2):c.1279A>T:p.Lys427Ter	coding	Pathogenic
2	47445634	G	T	G47445634T	MSH2	NM_000251.3(MSH2):c.1363G>T:p.Glu455Ter	coding	Pathogenic
2	47445659	T	C	T47445659C	MSH2	NM_000251.3(MSH2):c.1386+2T>C	noncoding	Pathogenic/Likely_pathogenic
2	47445680	T	G	T47445680G	MSH2	NM_000251.3(MSH2):c.1386+23T>G	noncoding	Benign/Likely_benign
2	47463082	G	T	G47463082T	MSH2	NM_000251.3(MSH2):c.1438G>T:p.Glu480Ter	coding	Pathogenic
2	47463107	T	A	T47463107A	MSH2	NM_000251.3(MSH2):c.1463T>A:p.Leu488Ter	coding	Pathogenic
2	47463155	G	T	G47463155T	MSH2	NM_000251.3(MSH2):c.1510+1G>T	coding	Pathogenic
2	47466392	A	T	A47466392T	MSH2	NM_000251.3(MSH2):c.1511-266A>T	noncoding	Benign
2	47466732	G	T	G47466732T	MSH2	NM_000251.3(MSH2):c.1585G>T:p.Glu529Ter	coding	Pathogenic
2	47466735	G	T	G47466735T	MSH2	NM_000251.3(MSH2):c.1588G>T:p.Glu530Ter	coding	Pathogenic
2	47466780	C	T	C47466780T	MSH2	NM_000251.3(MSH2):c.1633C>T:p.Gln545Ter	coding	Pathogenic/Likely_pathogenic
2	47467113	C	G	C47467113G	MSH2	NM_000251.3(MSH2):c.1661+305C>G	noncoding	Benign
2	47470963	A	T	A47470963T	MSH2	NM_000251.3(MSH2):c.1662-2A>T	noncoding	Pathogenic
2	47470965	C	T	C47470965T	MSH2	NM_000251.3(MSH2):c.1662C>T:p.Ser554=	coding	Benign/Likely_benign
2	47471008	G	T	G47471008T	MSH2	NM_000251.3(MSH2):c.1705G>T:p.Glu569Ter	coding	Pathogenic
2	47471013	T	A	T47471013A	MSH2	NM_000251.3(MSH2):c.1710T>A:p.Tyr570Ter	coding	Pathogenic
2	47471014	G	T	G47471014T	MSH2	NM_000251.3(MSH2):c.1711G>T:p.Glu571Ter	coding	Pathogenic
2	47475018	T	C	T47475018C	MSH2	NM_000251.3(MSH2):c.1760-7T>C	noncoding	Benign/Likely_benign
2	47475061	T	A	T47475061A	MSH2	NM_000251.3(MSH2):c.1796T>A:p.Leu599Ter	coding	Pathogenic
2	47475061	T	G	T47475061G	MSH2	NM_000251.3(MSH2):c.1796T>G:p.Leu599Ter	coding	Pathogenic
2	47475095	C	T	C47475095T	MSH2	NM_000251.3(MSH2):c.1830C>T:p.His610=	coding	Benign/Likely_benign
2	47475129	C	A	C47475129A	MSH2	NM_000251.3(MSH2):c.1864C>A:p.Pro622Thr	coding	Pathogenic/Likely_pathogenic
2	47475141	G	T	G47475141T	MSH2	NM_000251.3(MSH2):c.1876G>T:p.Glu626Ter	coding	Pathogenic
2	47475192	G	T	G47475192T	MSH2	NM_000251.3(MSH2):c.1927G>T:p.Glu643Ter	coding	Pathogenic
2	47475207	A	G	A47475207G	MSH2	NM_000251.3(MSH2):c.1942A>G:p.Ile648Val	coding	Benign
2	47475237	G	T	G47475237T	MSH2	NM_000251.3(MSH2):c.1972G>T:p.Glu658Ter	coding	Pathogenic
2	47475246	A	T	A47475246T	MSH2	NM_000251.3(MSH2):c.1981A>T:p.Lys661Ter	coding	Pathogenic
2	47475312	G	T	G47475312T	MSH2	NM_000251.3(MSH2):c.2005+42G>T	noncoding	Benign
2	47475321	T	G	T47475321G	MSH2	NM_000251.3(MSH2):c.2005+51T>G	noncoding	Benign
2	47476151	G	A	G47476151A	MSH2	NM_000251.3(MSH2):c.2006-216G>A	noncoding	Benign
2	47476365	A	C	A47476365C	MSH2	NM_000251.3(MSH2):c.2006-2A>C	noncoding	Pathogenic
2	47476365	A	T	A47476365T	MSH2	NM_000251.3(MSH2):c.2006-2A>T	noncoding	Pathogenic/Likely_pathogenic
2	47476366	G	A	G47476366A	MSH2	NM_000251.3(MSH2):c.2006-1G>A	noncoding	Pathogenic
2	47476378	G	T	G47476378T	MSH2	NM_000251.3(MSH2):c.2017G>T:p.Gly673Ter	coding	Pathogenic
2	47476384	A	T	A47476384T	MSH2	NM_000251.3(MSH2):c.2023A>T:p.Lys675Ter	coding	Pathogenic
2	47476400	G	C	G47476400C	MSH2	NM_000251.3(MSH2):c.2039G>C:p.Arg680Pro	coding	Pathogenic/Likely_pathogenic
2	47476415	T	G	T47476415G	MSH2	NM_000251.3(MSH2):c.2054T>G:p.Ile685Arg	coding	Pathogenic/Likely_pathogenic
2	47476429	C	T	C47476429T	MSH2	NM_000251.3(MSH2):c.2068C>T:p.Gln690Ter	coding	Pathogenic
2	47476442	T	C	T47476442C	MSH2	NM_000251.3(MSH2):c.2081T>C:p.Phe694Ser	coding	Pathogenic
2	47476487	T	G	T47476487G	MSH2	NM_000251.3(MSH2):c.2126T>G:p.Leu709Ter	coding	Pathogenic
2	47476578	G	T	G47476578T	MSH2	NM_000251.3(MSH2):c.2210+7G>T	noncoding	Benign/Likely_benign
2	47476856	T	G	T47476856G	MSH2	NM_000251.3(MSH2):c.2210+285T>G	noncoding	Benign
2	47478257	A	T	A47478257T	MSH2	NM_000251.3(MSH2):c.2211-15A>T	noncoding	Benign/Likely_benign
2	47478332	C	G	C47478332G	MSH2	NM_000251.3(MSH2):c.2271C>G:p.Tyr757Ter	coding	Pathogenic
2	47478346	T	A	T47478346A	MSH2	NM_000251.3(MSH2):c.2285T>A:p.Leu762Ter	coding	Pathogenic
2	47478346	T	G	T47478346G	MSH2	NM_000251.3(MSH2):c.2285T>G:p.Leu762Ter	coding	Pathogenic
2	47478348	G	C	G47478348C	MSH2	NM_000251.3(MSH2):c.2287G>C:p.Ala763Pro	coding	Pathogenic
2	47478417	G	T	G47478417T	MSH2	NM_000251.3(MSH2):c.2356G>T:p.Glu786Ter	coding	Pathogenic
2	47478438	C	T	C47478438T	MSH2	NM_000251.3(MSH2):c.2377C>T:p.Gln793Ter	coding	Pathogenic/Likely_pathogenic
2	47478506	T	A	T47478506A	MSH2	NM_000251.3(MSH2):c.2445T>A:p.Tyr815Ter	coding	Pathogenic
2	47478516	A	T	A47478516T	MSH2	NM_000251.3(MSH2):c.2455A>T:p.Lys819Ter	coding	Pathogenic
2	47478520	G	T	G47478520T	MSH2	NM_000251.3(MSH2):c.2458+1G>T	coding	Pathogenic/Likely_pathogenic
2	47480695	G	A	G47480695A	MSH2	NM_000251.3(MSH2):c.2459-1G>A	noncoding	Pathogenic/Likely_pathogenic
2	47480731	G	T	G47480731T	MSH2	NM_000251.3(MSH2):c.2494G>T:p.Glu832Ter	coding	Pathogenic
2	47480761	G	T	G47480761T	MSH2	NM_000251.3(MSH2):c.2524G>T:p.Glu842Ter	coding	Pathogenic
2	47480785	G	T	G47480785T	MSH2	NM_000251.3(MSH2):c.2548G>T:p.Glu850Ter	coding	Pathogenic
2	47480791	G	T	G47480791T	MSH2	NM_000251.3(MSH2):c.2554G>T:p.Glu852Ter	coding	Pathogenic
2	47480826	T	A	T47480826A	MSH2	NM_000251.3(MSH2):c.2589T>A:p.Tyr863Ter	coding	Pathogenic
2	47480856	C	A	C47480856A	MSH2	NM_000251.3(MSH2):c.2619C>A:p.Cys873Ter	coding	Pathogenic/Likely_pathogenic
2	47482668	T	A	T47482668A	MSH2	NM_000251.3(MSH2):c.2635-111T>A	noncoding	Benign
2	47783195	T	C	T47783195C	MSH6	NM_000179.3(MSH6):c.-39T>C	noncoding	Benign
2	47783197	C	T	C47783197T	MSH6	NM_000179.3(MSH6):c.-37C>T	noncoding	Benign
2	47783234	A	G	A47783234G	MSH6	NM_000179.3(MSH6):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
2	47783257	C	A	C47783257A	MSH6	NM_000179.3(MSH6):c.24C>A:p.Tyr8Ter	coding	Pathogenic
2	47783270	A	T	A47783270T	MSH6	NM_000179.3(MSH6):c.37A>T:p.Lys13Ter	coding	Pathogenic
2	47783314	C	G	C47783314G	MSH6	NM_000179.3(MSH6):c.81C>G:p.Ala27=	coding	Benign/Likely_benign
2	47783383	G	A	G47783383A	MSH6	NM_000179.3(MSH6):c.150G>A:p.Trp50Ter	coding	Pathogenic
2	47783412	T	A	T47783412A	MSH6	NM_000179.3(MSH6):c.179T>A:p.Leu60Ter	coding	Pathogenic
2	47783427	C	A	C47783427A	MSH6	NM_000179.3(MSH6):c.194C>A:p.Ser65Ter	coding	Pathogenic
2	47783435	A	T	A47783435T	MSH6	NM_000179.3(MSH6):c.202A>T:p.Lys68Ter	coding	Pathogenic
2	47783488	C	A	C47783488A	MSH6	NM_000179.3(MSH6):c.255C>A:p.Pro85=	coding	Benign/Likely_benign
2	47783733	C	T	C47783733T	MSH6	NM_000179.3(MSH6):c.260+240C>T	noncoding	Benign
2	47783952	G	C	G47783952C	MSH6	NM_000179.3(MSH6):c.260+459G>C	noncoding	Benign
2	47790629	C	A	C47790629A	MSH6	NM_000179.3(MSH6):c.261-298C>A	noncoding	Benign
2	47790907	G	C	G47790907C	MSH6	NM_000179.3(MSH6):c.261-20G>C	noncoding	Benign/Likely_benign
2	47790930	T	A	T47790930A	MSH6	NM_000179.3(MSH6):c.264T>A:p.Cys88Ter	coding	Pathogenic
2	47790956	G	A	G47790956A	MSH6	NM_000179.3(MSH6):c.290G>A:p.Trp97Ter	coding	Pathogenic
2	47790975	C	A	C47790975A	MSH6	NM_000179.3(MSH6):c.309C>A:p.Tyr103Ter	coding	Pathogenic/Likely_pathogenic
2	47790984	G	A	G47790984A	MSH6	NM_000179.3(MSH6):c.318G>A:p.Trp106Ter	coding	Pathogenic
2	47790999	C	G	C47790999G	MSH6	NM_000179.3(MSH6):c.333C>G:p.Tyr111Ter	coding	Pathogenic
2	47791015	G	T	G47791015T	MSH6	NM_000179.3(MSH6):c.349G>T:p.Gly117Ter	coding	Pathogenic
2	47791032	G	A	G47791032A	MSH6	NM_000179.3(MSH6):c.366G>A:p.Glu122=	coding	Benign/Likely_benign
2	47791099	A	T	A47791099T	MSH6	NM_000179.3(MSH6):c.433A>T:p.Lys145Ter	coding	Pathogenic
2	47791340	G	T	G47791340T	MSH6	NM_000179.3(MSH6):c.457+217G>T	noncoding	Benign
2	47795920	G	T	G47795920T	MSH6	NM_000179.3(MSH6):c.484G>T:p.Gly162Ter	coding	Pathogenic
2	47795965	C	T	C47795965T	MSH6	NM_000179.3(MSH6):c.529C>T:p.Gln177Ter	coding	Pathogenic
2	47795977	G	T	G47795977T	MSH6	NM_000179.3(MSH6):c.541G>T:p.Glu181Ter	coding	Pathogenic
2	47796037	G	T	G47796037T	MSH6	NM_000179.3(MSH6):c.601G>T:p.Glu201Ter	coding	Pathogenic
2	47796052	G	T	G47796052T	MSH6	NM_000179.3(MSH6):c.616G>T:p.Glu206Ter	coding	Pathogenic
2	47798607	G	C	G47798607C	MSH6	NM_000179.3(MSH6):c.628-4G>C	noncoding	Benign/Likely_benign
2	47798644	G	T	G47798644T	MSH6	NM_000179.3(MSH6):c.661G>T:p.Glu221Ter	coding	Pathogenic
2	47798653	G	T	G47798653T	MSH6	NM_000179.3(MSH6):c.670G>T:p.Glu224Ter	coding	Pathogenic
2	47798692	G	T	G47798692T	MSH6	NM_000179.3(MSH6):c.709G>T:p.Gly237Ter	coding	Pathogenic
2	47798719	A	T	A47798719T	MSH6	NM_000179.3(MSH6):c.736A>T:p.Lys246Ter	coding	Pathogenic
2	47798812	G	T	G47798812T	MSH6	NM_000179.3(MSH6):c.829G>T:p.Glu277Ter	coding	Pathogenic
2	47798887	A	T	A47798887T	MSH6	NM_000179.3(MSH6):c.904A>T:p.Arg302Ter	coding	Pathogenic
2	47798945	C	G	C47798945G	MSH6	NM_000179.3(MSH6):c.962C>G:p.Ser321Ter	coding	Pathogenic
2	47799051	T	C	T47799051C	MSH6	NM_000179.3(MSH6):c.1068T>C:p.Gly356=	coding	Benign/Likely_benign
2	47799078	G	A	G47799078A	MSH6	NM_000179.3(MSH6):c.1095G>A:p.Trp365Ter	coding	Pathogenic
2	47799085	G	T	G47799085T	MSH6	NM_000179.3(MSH6):c.1102G>T:p.Glu368Ter	coding	Pathogenic
2	47799112	A	T	A47799112T	MSH6	NM_000179.3(MSH6):c.1129A>T:p.Lys377Ter	coding	Pathogenic
2	47799118	A	T	A47799118T	MSH6	NM_000179.3(MSH6):c.1135A>T:p.Arg379Ter	coding	Pathogenic
2	47799136	A	C	A47799136C	MSH6	NM_000179.3(MSH6):c.1153A>C:p.Arg385=	coding	Benign/Likely_benign
2	47799174	T	A	T47799174A	MSH6	NM_000179.3(MSH6):c.1191T>A:p.Tyr397Ter	coding	Pathogenic
2	47799181	G	T	G47799181T	MSH6	NM_000179.3(MSH6):c.1198G>T:p.Glu400Ter	coding	Pathogenic
2	47799217	A	T	A47799217T	MSH6	NM_000179.3(MSH6):c.1234A>T:p.Lys412Ter	coding	Pathogenic
2	47799222	G	A	G47799222A	MSH6	NM_000179.3(MSH6):c.1239G>A:p.Trp413Ter	coding	Pathogenic
2	47799274	A	T	A47799274T	MSH6	NM_000179.3(MSH6):c.1291A>T:p.Lys431Ter	coding	Pathogenic
2	47799287	T	C	T47799287C	MSH6	NM_000179.3(MSH6):c.1304T>C:p.Leu435Pro	coding	Pathogenic/Likely_pathogenic
2	47799319	G	T	G47799319T	MSH6	NM_000179.3(MSH6):c.1336G>T:p.Glu446Ter	coding	Pathogenic
2	47799392	C	G	C47799392G	MSH6	NM_000179.3(MSH6):c.1409C>G:p.Ser470Ter	coding	Pathogenic
2	47799451	G	T	G47799451T	MSH6	NM_000179.3(MSH6):c.1468G>T:p.Glu490Ter	coding	Pathogenic
2	47799547	C	T	C47799547T	MSH6	NM_000179.3(MSH6):c.1564C>T:p.Gln522Ter	coding	Pathogenic
2	47799565	G	T	G47799565T	MSH6	NM_000179.3(MSH6):c.1582G>T:p.Glu528Ter	coding	Pathogenic
2	47799588	C	A	C47799588A	MSH6	NM_000179.3(MSH6):c.1605C>A:p.Tyr535Ter	coding	Pathogenic
2	47799588	C	G	C47799588G	MSH6	NM_000179.3(MSH6):c.1605C>G:p.Tyr535Ter	coding	Pathogenic
2	47799597	T	G	T47799597G	MSH6	NM_000179.3(MSH6):c.1614T>G:p.Tyr538Ter	coding	Pathogenic
2	47799613	G	T	G47799613T	MSH6	NM_000179.3(MSH6):c.1630G>T:p.Glu544Ter	coding	Pathogenic
2	47799619	G	T	G47799619T	MSH6	NM_000179.3(MSH6):c.1636G>T:p.Glu546Ter	coding	Pathogenic
2	47799682	A	T	A47799682T	MSH6	NM_000179.3(MSH6):c.1699A>T:p.Lys567Ter	coding	Pathogenic
2	47799723	G	A	G47799723A	MSH6	NM_000179.3(MSH6):c.1740G>A:p.Ser580=	coding	Benign/Likely_benign
2	47799756	A	G	A47799756G	MSH6	NM_000179.3(MSH6):c.1773A>G:p.Pro591=	coding	Benign/Likely_benign
2	47799760	C	T	C47799760T	MSH6	NM_000179.3(MSH6):c.1777C>T:p.Gln593Ter	coding	Pathogenic
2	47799768	A	G	A47799768G	MSH6	NM_000179.3(MSH6):c.1785A>G:p.Leu595=	coding	Benign/Likely_benign
2	47799790	A	T	A47799790T	MSH6	NM_000179.3(MSH6):c.1807A>T:p.Lys603Ter	coding	Pathogenic
2	47799793	G	T	G47799793T	MSH6	NM_000179.3(MSH6):c.1810G>T:p.Glu604Ter	coding	Pathogenic
2	47799811	A	T	A47799811T	MSH6	NM_000179.3(MSH6):c.1828A>T:p.Lys610Ter	coding	Pathogenic
2	47799828	T	A	T47799828A	MSH6	NM_000179.3(MSH6):c.1845T>A:p.Cys615Ter	coding	Pathogenic
2	47799835	C	T	C47799835T	MSH6	NM_000179.3(MSH6):c.1852C>T:p.Gln618Ter	coding	Pathogenic
2	47799838	G	T	G47799838T	MSH6	NM_000179.3(MSH6):c.1855G>T:p.Glu619Ter	coding	Pathogenic
2	47799901	G	T	G47799901T	MSH6	NM_000179.3(MSH6):c.1918G>T:p.Glu640Ter	coding	Pathogenic
2	47799909	T	A	T47799909A	MSH6	NM_000179.3(MSH6):c.1926T>A:p.Tyr642Ter	coding	Pathogenic
2	47799947	T	A	T47799947A	MSH6	NM_000179.3(MSH6):c.1964T>A:p.Leu655Ter	coding	Pathogenic
2	47799974	C	A	C47799974A	MSH6	NM_000179.3(MSH6):c.1991C>A:p.Ser664Ter	coding	Pathogenic/Likely_pathogenic
2	47799974	C	G	C47799974G	MSH6	NM_000179.3(MSH6):c.1991C>G:p.Ser664Ter	coding	Pathogenic
2	47800002	A	G	A47800002G	MSH6	NM_000179.3(MSH6):c.2019A>G:p.Pro673=	coding	Benign/Likely_benign
2	47800006	G	T	G47800006T	MSH6	NM_000179.3(MSH6):c.2023G>T:p.Glu675Ter	coding	Pathogenic
2	47800015	G	T	G47800015T	MSH6	NM_000179.3(MSH6):c.2032G>T:p.Glu678Ter	coding	Pathogenic
2	47800045	G	A	G47800045A	MSH6	NM_000179.3(MSH6):c.2062G>A:p.Val688Ile	coding	Benign/Likely_benign
2	47800086	A	G	A47800086G	MSH6	NM_000179.3(MSH6):c.2103A>G:p.Leu701=	coding	Benign/Likely_benign
2	47800102	G	T	G47800102T	MSH6	NM_000179.3(MSH6):c.2119G>T:p.Glu707Ter	coding	Pathogenic
2	47800144	A	T	A47800144T	MSH6	NM_000179.3(MSH6):c.2161A>T:p.Arg721Ter	coding	Pathogenic
2	47800251	A	C	A47800251C	MSH6	NM_000179.3(MSH6):c.2268A>C:p.Gly756=	coding	Benign/Likely_benign
2	47800320	T	A	T47800320A	MSH6	NM_000179.3(MSH6):c.2337T>A:p.Cys779Ter	coding	Pathogenic
2	47800341	T	A	T47800341A	MSH6	NM_000179.3(MSH6):c.2358T>A:p.Tyr786Ter	coding	Pathogenic
2	47800383	T	C	T47800383C	MSH6	NM_000179.3(MSH6):c.2400T>C:p.Val800=	coding	Benign/Likely_benign
2	47800420	A	T	A47800420T	MSH6	NM_000179.3(MSH6):c.2437A>T:p.Lys813Ter	coding	Pathogenic
2	47800500	C	T	C47800500T	MSH6	NM_000179.3(MSH6):c.2517C>T:p.Asp839=	coding	Benign/Likely_benign
2	47800518	T	A	T47800518A	MSH6	NM_000179.3(MSH6):c.2535T>A:p.Tyr845Ter	coding	Pathogenic
2	47800522	G	T	G47800522T	MSH6	NM_000179.3(MSH6):c.2539G>T:p.Glu847Ter	coding	Pathogenic
2	47800573	G	T	G47800573T	MSH6	NM_000179.3(MSH6):c.2590G>T:p.Gly864Ter	coding	Pathogenic
2	47800609	G	T	G47800609T	MSH6	NM_000179.3(MSH6):c.2626G>T:p.Glu876Ter	coding	Pathogenic
2	47800648	C	T	C47800648T	MSH6	NM_000179.3(MSH6):c.2665C>T:p.Gln889Ter	coding	Pathogenic/Likely_pathogenic
2	47800705	G	T	G47800705T	MSH6	NM_000179.3(MSH6):c.2722G>T:p.Glu908Ter	coding	Pathogenic
2	47800741	A	T	A47800741T	MSH6	NM_000179.3(MSH6):c.2758A>T:p.Lys920Ter	coding	Pathogenic
2	47800828	C	T	C47800828T	MSH6	NM_000179.3(MSH6):c.2845C>T:p.Gln949Ter	coding	Pathogenic
2	47800855	C	T	C47800855T	MSH6	NM_000179.3(MSH6):c.2872C>T:p.Gln958Ter	coding	Pathogenic/Likely_pathogenic
2	47800941	C	T	C47800941T	MSH6	NM_000179.3(MSH6):c.2958C>T:p.Thr986=	coding	Benign/Likely_benign
2	47800957	G	T	G47800957T	MSH6	NM_000179.3(MSH6):c.2974G>T:p.Glu992Ter	coding	Pathogenic
2	47800960	G	T	G47800960T	MSH6	NM_000179.3(MSH6):c.2977G>T:p.Glu993Ter	coding	Pathogenic
2	47801023	A	T	A47801023T	MSH6	NM_000179.3(MSH6):c.3040A>T:p.Lys1014Ter	coding	Pathogenic
2	47801091	G	T	G47801091T	MSH6	NM_000179.3(MSH6):c.3108G>T:p.Leu1036=	coding	Benign/Likely_benign
2	47801097	T	G	T47801097G	MSH6	NM_000179.3(MSH6):c.3114T>G:p.Tyr1038Ter	coding	Pathogenic
2	47801153	T	A	T47801153A	MSH6	NM_000179.3(MSH6):c.3170T>A:p.Leu1057Ter	coding	Pathogenic
2	47803437	G	A	G47803437A	MSH6	NM_000179.3(MSH6):c.3190G>A:p.Ala1064Thr	coding	Benign
2	47803445	T	A	T47803445A	MSH6	NM_000179.3(MSH6):c.3198T>A:p.Tyr1066Ter	coding	Pathogenic
2	47803445	T	C	T47803445C	MSH6	NM_000179.3(MSH6):c.3198T>C:p.Tyr1066=	coding	Benign/Likely_benign
2	47803445	T	G	T47803445G	MSH6	NM_000179.3(MSH6):c.3198T>G:p.Tyr1066Ter	coding	Pathogenic
2	47803494	G	T	G47803494T	MSH6	NM_000179.3(MSH6):c.3247G>T:p.Glu1083Ter	coding	Pathogenic
2	47803513	T	G	T47803513G	MSH6	NM_000179.3(MSH6):c.3266T>G:p.Leu1089Ter	coding	Pathogenic
2	47803528	C	A	C47803528A	MSH6	NM_000179.3(MSH6):c.3281C>A:p.Ser1094Ter	coding	Pathogenic
2	47803541	C	A	C47803541A	MSH6	NM_000179.3(MSH6):c.3294C>A:p.Cys1098Ter	coding	Pathogenic
2	47803599	G	T	G47803599T	MSH6	NM_000179.3(MSH6):c.3352G>T:p.Glu1118Ter	coding	Pathogenic
2	47803611	C	T	C47803611T	MSH6	NM_000179.3(MSH6):c.3364C>T:p.Gln1122Ter	coding	Pathogenic
2	47803631	T	G	T47803631G	MSH6	NM_000179.3(MSH6):c.3384T>G:p.Tyr1128Ter	coding	Pathogenic
2	47803673	G	A	G47803673A	MSH6	NM_000179.3(MSH6):c.3426G>A:p.Thr1142=	coding	Benign/Likely_benign
2	47803696	C	T	C47803696T	MSH6	NM_000179.3(MSH6):c.3438+11C>T	noncoding	Benign/Likely_benign
2	47804908	A	T	A47804908T	MSH6	NM_000179.3(MSH6):c.3439-2A>T	noncoding	Pathogenic/Likely_pathogenic
2	47804948	C	T	C47804948T	MSH6	NM_000179.3(MSH6):c.3477C>T:p.Tyr1159=	coding	Benign/Likely_benign
2	47805011	A	C	A47805011C	MSH6	NM_000179.3(MSH6):c.3540A>C:p.Ser1180=	coding	Benign/Likely_benign
2	47805015	A	T	A47805015T	MSH6	NM_000179.3(MSH6):c.3544A>T:p.Arg1182Ter	coding	Pathogenic
2	47805029	T	G	T47805029G	MSH6	NM_000179.3(MSH6):c.3556+2T>G	noncoding	Pathogenic
2	47805617	G	C	G47805617C	MSH6	NM_000179.3(MSH6):c.3557-1G>C	noncoding	Pathogenic/Likely_pathogenic
2	47805642	T	A	T47805642A	MSH6	NM_000179.3(MSH6):c.3581T>A:p.Leu1194Ter	coding	Pathogenic
2	47805642	T	G	T47805642G	MSH6	NM_000179.3(MSH6):c.3581T>G:p.Leu1194Ter	coding	Pathogenic
2	47805701	G	T	G47805701T	MSH6	NM_000179.3(MSH6):c.3640G>T:p.Glu1214Ter	coding	Pathogenic
2	47805708	G	A	G47805708A	MSH6	NM_000179.3(MSH6):c.3646+1G>A	coding	Pathogenic/Likely_pathogenic
2	47806184	T	C	T47806184C	MSH6	NM_000179.3(MSH6):c.3647-20T>C	noncoding	Benign/Likely_benign
2	47806266	G	T	G47806266T	MSH6	NM_000179.3(MSH6):c.3709G>T:p.Glu1237Ter	coding	Pathogenic
2	47806275	A	T	A47806275T	MSH6	NM_000179.3(MSH6):c.3718A>T:p.Lys1240Ter	coding	Pathogenic
2	47806282	G	A	G47806282A	MSH6	NM_000179.3(MSH6):c.3725G>A:p.Arg1242His	coding	Pathogenic/Likely_pathogenic
2	47806294	C	A	C47806294A	MSH6	NM_000179.3(MSH6):c.3737C>A:p.Ser1246Ter	coding	Pathogenic
2	47806343	G	A	G47806343A	MSH6	NM_000179.3(MSH6):c.3786G>A:p.Val1262=	coding	Benign/Likely_benign
2	47806457	C	A	C47806457A	MSH6	NM_000179.3(MSH6):c.3807C>A:p.Cys1269Ter	coding	Pathogenic
2	47806470	G	T	G47806470T	MSH6	NM_000179.3(MSH6):c.3820G>T:p.Glu1274Ter	coding	Pathogenic/Likely_pathogenic
2	47806532	T	A	T47806532A	MSH6	NM_000179.3(MSH6):c.3882T>A:p.Cys1294Ter	coding	Pathogenic
2	47806581	G	T	G47806581T	MSH6	NM_000179.3(MSH6):c.3931G>T:p.Glu1311Ter	coding	Pathogenic
2	47806602	A	T	A47806602T	MSH6	NM_000179.3(MSH6):c.3952A>T:p.Arg1318Ter	coding	Pathogenic/Likely_pathogenic
2	47806632	C	T	C47806632T	MSH6	NM_000179.3(MSH6):c.3982C>T:p.Gln1328Ter	coding	Pathogenic
2	47806652	G	A	G47806652A	MSH6	NM_000179.3(MSH6):c.4001+1G>A	coding	Pathogenic
2	47806666	A	G	A47806666G	MSH6	NM_000179.3(MSH6):c.4001+15A>G	noncoding	Benign/Likely_benign
2	47806667	T	A	T47806667A	MSH6	NM_000179.3(MSH6):c.4001+16T>A	noncoding	Benign/Likely_benign
2	47806771	A	T	A47806771T	MSH6	NM_000179.3(MSH6):c.4002-8A>T	noncoding	Benign/Likely_benign
2	47806871	T	C	T47806871C	MSH6	NM_000179.3(MSH6):c.*11T>C	noncoding	Benign/Likely_benign
2	47808163	A	T	A47808163T	FBXO11	NM_001190274.2(FBXO11):c.2739T>A:p.Tyr913Ter	coding	Pathogenic
2	47808312	G	C	G47808312C	FBXO11	NM_001190274.2(FBXO11):c.2654+17C>G	noncoding	Benign
2	47809222	T	C	T47809222C	FBXO11	NM_001190274.2(FBXO11):c.2491A>G:p.Ser831Gly	coding	Benign
2	47809610	C	T	C47809610T	FBXO11	NM_001190274.2(FBXO11):c.2436G>A:p.Val812=	coding	Benign
2	47810315	C	T	C47810315T	FBXO11	NM_001190274.2(FBXO11):c.2338+1G>A	noncoding	Pathogenic
2	47813256	G	A	G47813256A	FBXO11	NM_001190274.2(FBXO11):c.2205C>T:p.Ile735=	coding	Benign
2	47813316	C	G	C47813316G	FBXO11	NM_001190274.2(FBXO11):c.2145G>C:p.Lys715Asn	coding	Pathogenic
2	47813381	T	C	T47813381C	FBXO11	NM_001190274.2(FBXO11):c.2084-4A>G	noncoding	Benign
2	47818980	T	C	T47818980C	FBXO11	NM_001190274.2(FBXO11):c.1896A>G:p.Arg632=	coding	Benign
2	47819079	C	T	C47819079T	FBXO11	NM_001190274.2(FBXO11):c.1798-1G>A	coding	Pathogenic
2	47820361	C	T	C47820361T	FBXO11	NM_001190274.2(FBXO11):c.1797+1G>A	noncoding	Pathogenic
2	47820404	C	T	C47820404T	FBXO11	NM_001190274.2(FBXO11):c.1755G>A:p.Arg585=	coding	Benign
2	47822219	A	G	A47822219G	FBXO11	NM_001190274.2(FBXO11):c.1701T>C:p.Tyr567=	coding	Benign
2	47822307	T	C	T47822307C	FBXO11	NM_001190274.2(FBXO11):c.1617-4A>G	noncoding	Benign
2	47823222	C	A	C47823222A	FBXO11	NM_001190274.2(FBXO11):c.1537G>T:p.Gly513Ter	coding	Pathogenic
2	47823325	C	T	C47823325T	FBXO11	NM_001190274.2(FBXO11):c.1434G>A:p.Arg478=	coding	Benign
2	47832358	A	G	A47832358G	FBXO11	NM_001190274.2(FBXO11):c.1389T>C:p.Asp463=	coding	Benign
2	47832579	T	C	T47832579C	FBXO11	NM_001190274.2(FBXO11):c.1253A>G:p.His418Arg	coding	Benign
2	47832668	T	C	T47832668C	FBXO11	NM_001190274.2(FBXO11):c.1164A>G:p.Ala388=	coding	Benign
2	47832697	T	G	T47832697G	FBXO11	NM_001190274.2(FBXO11):c.1154-19A>C	noncoding	Benign
2	47832753	T	G	T47832753G	FBXO11	NM_001190274.2(FBXO11):c.1153+16A>C	noncoding	Benign
2	47832948	T	C	T47832948C	FBXO11	NM_001190274.2(FBXO11):c.1041+16A>G	noncoding	Benign
2	47833060	T	C	T47833060C	FBXO11	NM_001190274.2(FBXO11):c.945A>G:p.Lys315=	coding	Benign
2	47833068	G	C	G47833068C	FBXO11	NM_001190274.2(FBXO11):c.937C>G:p.Pro313Ala	coding	Benign
2	47834597	T	C	T47834597C	FBXO11	NM_001190274.2(FBXO11):c.916A>G:p.Ile306Val	coding	Benign
2	47834631	T	C	T47834631C	FBXO11	NM_001190274.2(FBXO11):c.882A>G:p.Ile294Met	coding	Benign
2	47834727	T	C	T47834727C	FBXO11	NM_001190274.2(FBXO11):c.802-16A>G	noncoding	Benign
2	47834773	A	T	A47834773T	FBXO11	NM_001190274.2(FBXO11):c.801+15T>A	noncoding	Benign
2	47834809	A	G	A47834809G	FBXO11	NM_001190274.2(FBXO11):c.780T>C:p.Tyr260=	coding	Benign
2	47835855	C	A	C47835855A	FBXO11	NM_001190274.2(FBXO11):c.717+17G>T	noncoding	Benign
2	47835980	T	A	T47835980A	FBXO11	NM_001190274.2(FBXO11):c.609A>T:p.Val203=	coding	Benign
2	47836003	T	C	T47836003C	FBXO11	NM_001190274.2(FBXO11):c.588-2A>G	noncoding	Pathogenic
2	47838843	A	G	A47838843G	FBXO11	NM_001190274.2(FBXO11):c.587+16T>C	noncoding	Benign
2	47838844	T	G	T47838844G	FBXO11	NM_001190274.2(FBXO11):c.587+15A>C	noncoding	Benign
2	47839023	T	C	T47839023C	FBXO11	NM_001190274.2(FBXO11):c.443-20A>G	noncoding	Benign
2	47839505	A	G	A47839505G	FBXO11	NM_001190274.2(FBXO11):c.361-5T>C	noncoding	Benign
2	47839683	A	G	A47839683G	FBXO11	NM_001190274.2(FBXO11):c.319T>C:p.Leu107=	coding	Benign
2	47905572	T	G	T47905572G	FBXO11	NM_001190274.2(FBXO11):c.149A>C:p.Gln50Pro	coding	Benign/Likely_benign
2	47905627	G	C	G47905627C	FBXO11	NM_001190274.2(FBXO11):c.94C>G:p.Pro32Ala	coding	Benign
2	47905684	G	A	G47905684A	FBXO11	NM_001190274.2(FBXO11):c.37C>T:p.Arg13Ter	coding	Pathogenic
2	48454661	C	T	C48454661T	PPP1R21	NM_001135629.3(PPP1R21):c.193C>T:p.Arg65Ter	coding	Pathogenic
2	48454729	C	G	C48454729G	PPP1R21	NM_001135629.3(PPP1R21):c.261C>G:p.Gly87=	coding	Benign
2	48459805	C	T	C48459805T	PPP1R21	NM_001135629.3(PPP1R21):c.427C>T:p.Arg143Ter	coding	Pathogenic
2	48486638	C	T	C48486638T	PPP1R21	NM_001135629.3(PPP1R21):c.1326C>T:p.Ser442=	coding	Benign
2	48510018	C	T	C48510018T	PPP1R21	NM_001135629.3(PPP1R21):c.2089C>T:p.Arg697Ter	coding	Pathogenic
2	48688962	C	T	C48688962T	LHCGR	NM_000233.4(LHCGR):c.948-113G>A	noncoding	Benign
2	48698552	C	G	C48698552G	LHCGR	NM_000233.4(LHCGR):c.866+63G>C	noncoding	Benign
2	48699043	G	C	G48699043C	LHCGR	NM_000233.4(LHCGR):c.681-243C>G	noncoding	Benign
2	48708710	C	G	C48708710G	LHCGR	NM_000233.4(LHCGR):c.680+238G>C	noncoding	Benign
2	48708791	T	C	T48708791C	LHCGR	NM_000233.4(LHCGR):c.680+157A>G	noncoding	Benign
2	48708867	G	A	G48708867A	LHCGR	NM_000233.4(LHCGR):c.680+81C>T	noncoding	Benign
2	48709320	A	G	A48709320G	LHCGR	NM_000233.4(LHCGR):c.606-298T>C	noncoding	Benign
2	48713940	A	G	A48713940G	LHCGR	NM_000233.4(LHCGR):c.605+46T>C	noncoding	Benign
2	48714055	C	A	C48714055A	LHCGR	NM_000233.4(LHCGR):c.537-1G>T	coding	Pathogenic
2	48714289	C	T	C48714289T	LHCGR	NM_000233.4(LHCGR):c.537-235G>A	noncoding	Benign
2	48721568	A	C	A48721568C	LHCGR	NM_000233.4(LHCGR):c.536+1888T>G	noncoding	Benign
2	48725435	C	T	C48725435T	LHCGR	NM_000233.4(LHCGR):c.383+241G>A	noncoding	Benign
2	48725485	G	A	G48725485A	LHCGR	NM_000233.4(LHCGR):c.383+191C>T	noncoding	Benign
2	48725510	G	A	G48725510A	LHCGR	NM_000233.4(LHCGR):c.383+166C>T	noncoding	Benign
2	48725562	C	G	C48725562G	LHCGR	NM_000233.4(LHCGR):c.383+114G>C	noncoding	Benign
2	48729278	C	T	C48729278T	LHCGR	NM_000233.4(LHCGR):c.234-51G>A	noncoding	Benign
2	48729292	T	A	T48729292A	LHCGR	NM_000233.4(LHCGR):c.234-65A>T	noncoding	Benign
2	48729336	C	T	C48729336T	LHCGR	NM_000233.4(LHCGR):c.234-109G>A	noncoding	Benign
2	48729373	A	G	A48729373G	LHCGR	NM_000233.4(LHCGR):c.234-146T>C	noncoding	Benign
2	48731152	T	A	T48731152A	LHCGR	NM_000233.4(LHCGR):c.233+75A>T	noncoding	Benign
2	48731456	A	G	A48731456G	LHCGR	NM_000233.4(LHCGR):c.162-158T>C	noncoding	Benign
2	48731487	A	G	A48731487G	LHCGR	NM_000233.4(LHCGR):c.162-189T>C	noncoding	Benign
2	48731508	C	T	C48731508T	LHCGR	NM_000233.4(LHCGR):c.162-210G>A	noncoding	Benign
2	48731548	G	T	G48731548T	LHCGR	NM_000233.4(LHCGR):c.162-250C>A	noncoding	Benign
2	48755219	G	A	G48755219A	LHCGR	NM_000233.4(LHCGR):c.161+292C>T	noncoding	Benign
2	48755346	T	C	T48755346C	LHCGR	NM_000233.4(LHCGR):c.161+165A>G	noncoding	Benign
2	48755483	C	G	C48755483G	LHCGR	NM_000233.4(LHCGR):c.161+28G>C	noncoding	Benign
2	48756083	T	G	T48756083G	LHCGR	NM_001198593.2(STON1-GTF2A1L):c.3442-20197T>G	noncoding	Benign
2	48983203	A	G	A48983203G	FSHR	NM_000145.4(FSHR):c.525-37T>C	noncoding	Benign
2	48988838	G	A	G48988838A	FSHR	NM_000145.4(FSHR):c.524+139C>T	noncoding	Benign
2	48989145	C	T	C48989145T	FSHR	NM_000145.4(FSHR):c.447-91G>A	noncoding	Benign
2	48989160	A	G	A48989160G	FSHR	NM_000145.4(FSHR):c.447-106T>C	noncoding	Benign
2	48990306	T	C	T48990306C	FSHR	NM_000145.4(FSHR):c.446+260A>G	noncoding	Benign
2	48990777	T	G	T48990777G	FSHR	NM_000145.4(FSHR):c.375-140A>C	noncoding	Benign
2	48990855	T	G	T48990855G	FSHR	NM_000145.4(FSHR):c.375-218A>C	noncoding	Benign
2	49017226	C	A	C49017226A	FSHR	NM_000145.4(FSHR):c.374+263G>T	noncoding	Benign
2	49017248	T	A	T49017248A	FSHR	NM_000145.4(FSHR):c.374+241A>T	noncoding	Benign
2	49017420	A	G	A49017420G	FSHR	NM_000145.4(FSHR):c.374+69T>C	noncoding	Benign
2	49017514	G	A	G49017514A	FSHR	NM_000145.4(FSHR):c.349C>T:p.Gln117Ter	coding	Pathogenic
2	49017855	T	C	T49017855C	FSHR	NM_000145.4(FSHR):c.300-292A>G	noncoding	Benign
2	49068029	G	A	G49068029A	FSHR	NM_000145.4(FSHR):c.224+190C>T	noncoding	Benign
2	49068533	C	T	C49068533T	FSHR	NM_000145.4(FSHR):c.153-243G>A	noncoding	Benign
2	49068586	G	A	G49068586A	FSHR	NM_000145.4(FSHR):c.153-296C>T	noncoding	Benign
2	49154114	T	C	T49154114C	FSHR	NM_000145.4(FSHR):c.152+152A>G	noncoding	Benign
2	50053145	T	C	T50053145C	NRXN1	NM_001330078.2(NRXN1):c.4128+126A>G	noncoding	Benign
2	50053200	G	A	G50053200A	NRXN1	NM_001330078.2(NRXN1):c.4128+71C>T	noncoding	Benign
2	50053835	G	A	G50053835A	NRXN1	NM_001330078.2(NRXN1):c.3809-245C>T	noncoding	Benign
2	50053837	A	G	A50053837G	NRXN1	NM_001330078.2(NRXN1):c.3809-247T>C	noncoding	Benign
2	50055006	G	A	G50055006A	NRXN1	NM_001330078.2(NRXN1):c.3757C>T:p.Arg1253Ter	coding	Pathogenic/Likely_pathogenic
2	50346983	G	T	G50346983T	NRXN1	NM_001330078.2(NRXN1):c.3365-110013C>A	coding	Benign
2	50347347	A	G	A50347347G	NRXN1	NM_001330078.2(NRXN1):c.3365-110377T>C	coding	Benign
2	50465220	C	T	C50465220T	NRXN1	NM_001330078.2(NRXN1):c.3364+222G>A	noncoding	Benign
2	50465681	T	G	T50465681G	NRXN1	NM_001330078.2(NRXN1):c.3245-120A>C	noncoding	Benign
2	50472054	A	G	A50472054G	NRXN1	NM_001330078.2(NRXN1):c.3244+244T>C	noncoding	Benign
2	50472058	G	A	G50472058A	NRXN1	NM_001330078.2(NRXN1):c.3244+240C>T	noncoding	Benign
2	50472500	A	G	A50472500G	NRXN1	NM_001330078.2(NRXN1):c.3071-29T>C	noncoding	Benign
2	50495862	C	A	C50495862A	NRXN1	NM_001330078.2(NRXN1):c.3070+43G>T	noncoding	Benign
2	50496329	T	C	T50496329C	NRXN1	NM_001330078.2(NRXN1):c.2880-234A>G	noncoding	Benign
2	50506606	C	A	C50506606A	NRXN1	NM_001330078.2(NRXN1):c.2386G>T:p.Glu796Ter	coding	Pathogenic
2	50506722	A	G	A50506722G	NRXN1	NM_001330078.2(NRXN1):c.2375-105T>C	noncoding	Benign
2	50506775	C	G	C50506775G	NRXN1	NM_001330078.2(NRXN1):c.2375-158G>C	noncoding	Benign
2	50528338	A	C	A50528338C	NRXN1	NM_001330078.2(NRXN1):c.2374+287T>G	noncoding	Benign
2	50531519	T	C	T50531519C	NRXN1	NM_001330078.2(NRXN1):c.2144-89A>G	noncoding	Benign
2	50538274	G	T	G50538274T	NRXN1	NM_001330078.2(NRXN1):c.2122C>A:p.Leu708Ile	coding	Benign/Likely_benign
2	50538647	G	C	G50538647C	NRXN1	NM_001330078.2(NRXN1):c.1760-11C>G	noncoding	Benign/Likely_benign
2	50552571	A	C	A50552571C	NRXN1	NM_001330078.2(NRXN1):c.1759+16T>G	noncoding	Benign
2	50639807	A	G	A50639807G	NRXN1	NM_001330078.2(NRXN1):c.833-16192T>C	noncoding	Benign
2	50689520	C	G	C50689520G	NRXN1	NM_001330078.2(NRXN1):c.833-65905G>C	noncoding	Benign
2	50689535	T	C	T50689535C	NRXN1	NM_001330078.2(NRXN1):c.833-65920A>G	noncoding	Benign
2	50789632	C	T	C50789632T	NRXN1	NM_001330078.2(NRXN1):c.832+132237G>A	noncoding	Benign
2	50839308	G	A	G50839308A	NRXN1	NM_001330078.2(NRXN1):c.832+82561C>T	noncoding	Benign
2	50839549	G	T	G50839549T	NRXN1	NM_001330078.2(NRXN1):c.832+82320C>A	noncoding	Benign
2	50839731	T	C	T50839731C	NRXN1	NM_001330078.2(NRXN1):c.832+82138A>G	noncoding	Benign
2	51027503	T	C	T51027503C	NRXN1	NM_001330078.2(NRXN1):c.771A>G:p.Gln257=	coding	Benign/Likely_benign
2	51027673	C	A	C51027673A	NRXN1	NM_001330078.2(NRXN1):c.601G>T:p.Glu201Ter	coding	Pathogenic
2	51027857	C	T	C51027857T	NRXN1	NM_001330078.2(NRXN1):c.417G>A:p.Glu139=	coding	Benign/Likely_benign
2	51028055	C	T	C51028055T	NRXN1	NM_001330078.2(NRXN1):c.219G>A:p.Glu73=	coding	Benign/Likely_benign
2	51031749	C	A	C51031749A	NRXN1	NM_001330078.2(NRXN1):c.-922+232G>T	noncoding	Benign
2	51031816	G	C	G51031816C	NRXN1	NM_001330078.2(NRXN1):c.-922+165C>G	noncoding	Benign
2	54616281	C	A	C54616281A	SPTBN1	NM_003128.3(SPTBN1):c.549C>A:p.Cys183Ter	coding	Pathogenic
2	54617653	C	T	C54617653T	SPTBN1	NM_003128.3(SPTBN1):c.612C>T:p.Asp204=	coding	Benign
2	54617655	G	A	G54617655A	SPTBN1	NM_003128.3(SPTBN1):c.614G>A:p.Gly205Asp	coding	Pathogenic
2	54618179	T	G	T54618179G	SPTBN1	NM_003128.3(SPTBN1):c.749T>G:p.Leu250Arg	coding	Pathogenic
2	54621439	C	G	C54621439G	SPTBN1	NM_003128.3(SPTBN1):c.803C>G:p.Thr268Ser	coding	Pathogenic
2	54629896	G	T	G54629896T	SPTBN1	NM_003128.3(SPTBN1):c.2674G>T:p.Glu892Ter	coding	Pathogenic
2	54653687	G	C	G54653687C	SPTBN1	NM_003128.3(SPTBN1):c.5656G>C:p.Glu1886Gln	coding	Pathogenic
2	54659229	A	G	A54659229G	SPTBN1	NM_003128.3(SPTBN1):c.6319A>G:p.Thr2107Ala	coding	Benign
2	55233469	A	T	A55233469T	RPS27A	NM_002954.6(RPS27A):c.103+52A>T	noncoding	Benign
2	55233615	C	T	C55233615T	RPS27A	NM_002954.6(RPS27A):c.103+198C>T	noncoding	Benign
2	55233917	A	G	A55233917G	RPS27A	NM_002954.6(RPS27A):c.104-202A>G	noncoding	Benign
2	55234687	T	A	T55234687A	RPS27A	NM_002954.6(RPS27A):c.190-144T>A	noncoding	Benign
2	55234855	A	C	A55234855C	RPS27A	NM_002954.6(RPS27A):c.214A>C:p.Arg72=	coding	Benign
2	55235327	A	T	A55235327T	RPS27A	NM_002954.6(RPS27A):c.322-101A>T	noncoding	Benign
2	55235387	G	A	G55235387A	RPS27A	NM_002954.6(RPS27A):c.322-41G>A	noncoding	Benign
2	55299972	G	A	G55299972A	CCDC88A	NM_001365480.1(CCDC88A):c.4745-53C>T	noncoding	Benign
2	55301121	A	C	A55301121C	CCDC88A	NM_001365480.1(CCDC88A):c.4744+85T>G	noncoding	Benign
2	55317346	G	A	G55317346A	CCDC88A	NM_001365480.1(CCDC88A):c.3606C>T:p.Tyr1202=	coding	Benign
2	55317544	A	G	A55317544G	CCDC88A	NM_001365480.1(CCDC88A):c.3602+20T>C	noncoding	Benign
2	55317600	T	C	T55317600C	CCDC88A	NM_001365480.1(CCDC88A):c.3566A>G:p.Lys1189Arg	coding	Benign
2	55318912	T	G	T55318912G	CCDC88A	NM_001365480.1(CCDC88A):c.3255A>C:p.Ala1085=	coding	Benign
2	55334297	G	A	G55334297A	CCDC88A	NM_001365480.1(CCDC88A):c.2524C>T:p.Arg842Ter	coding	Pathogenic
2	55334760	A	G	A55334760G	CCDC88A	NM_001365480.1(CCDC88A):c.2061T>C:p.Phe687=	coding	Benign
2	55334808	T	A	T55334808A	CCDC88A	NM_001365480.1(CCDC88A):c.2013A>T:p.Glu671Asp	coding	Benign
2	55336738	C	T	C55336738T	CCDC88A	NM_001365480.1(CCDC88A):c.1599G>A:p.Lys533=	coding	Benign
2	55346270	G	A	G55346270A	CCDC88A	NM_001365480.1(CCDC88A):c.946C>T:p.Arg316Ter	coding	Pathogenic
2	55349498	C	T	C55349498T	CCDC88A	NM_001365480.1(CCDC88A):c.882+20G>A	noncoding	Benign
2	55355548	A	T	A55355548T	CCDC88A	NM_001365480.1(CCDC88A):c.800+31T>A	noncoding	Benign
2	55362298	T	A	T55362298A	CCDC88A	NM_001365480.1(CCDC88A):c.627+10A>T	noncoding	Benign
2	55364040	T	C	T55364040C	CCDC88A	NM_001365480.1(CCDC88A):c.403-7A>G	noncoding	Benign
2	55372519	G	A	G55372519A	CCDC88A	NM_001365480.1(CCDC88A):c.344-9C>T	noncoding	Benign
2	55636166	A	G	A55636166G	PNPT1	NM_033109.5(PNPT1):c.*71T>C	noncoding	Benign
2	55640803	A	G	A55640803G	PNPT1	NM_033109.5(PNPT1):c.2070-98T>C	noncoding	Benign
2	55643155	T	C	T55643155C	PNPT1	NM_033109.5(PNPT1):c.2069+3A>G	noncoding	Pathogenic
2	55643216	G	C	G55643216C	PNPT1	NM_033109.5(PNPT1):c.2014-3C>G	noncoding	Pathogenic
2	55643403	A	G	A55643403G	PNPT1	NM_033109.5(PNPT1):c.1929T>C:p.Asp643=	coding	Benign/Likely_benign
2	55643562	T	C	T55643562C	PNPT1	NM_033109.5(PNPT1):c.1907-137A>G	noncoding	Benign
2	55644941	G	A	G55644941A	PNPT1	NM_033109.5(PNPT1):c.1823-221C>T	noncoding	Benign
2	55644946	G	A	G55644946A	PNPT1	NM_033109.5(PNPT1):c.1823-226C>T	noncoding	Benign
2	55646272	A	G	A55646272G	PNPT1	NM_033109.5(PNPT1):c.1725T>C:p.Ile575=	coding	Benign/Likely_benign
2	55647158	A	T	A55647158T	PNPT1	NM_033109.5(PNPT1):c.1602+189T>A	noncoding	Benign
2	55656143	G	A	G55656143A	PNPT1	NM_033109.5(PNPT1):c.1429C>T:p.Leu477=	coding	Benign
2	55659736	G	A	G55659736A	PNPT1	NM_033109.5(PNPT1):c.1284+421C>T	noncoding	Benign
2	55661972	C	T	C55661972T	PNPT1	NM_033109.5(PNPT1):c.1231G>A:p.Val411Ile	coding	Benign/Likely_benign
2	55666955	A	G	A55666955G	PNPT1	NM_033109.5(PNPT1):c.1176+36T>C	noncoding	Benign
2	55673020	C	A	C55673020A	PNPT1	NM_033109.5(PNPT1):c.739G>T:p.Val247Leu	coding	Benign/Likely_benign
2	55673324	A	G	A55673324G	PNPT1	NM_033109.5(PNPT1):c.680-245T>C	noncoding	Benign
2	55679787	G	A	G55679787A	PNPT1	NM_033109.5(PNPT1):c.574C>T:p.Arg192Ter	coding	Pathogenic
2	55685050	T	A	T55685050A	PNPT1	NM_033109.5(PNPT1):c.298-2A>T	noncoding	Pathogenic
2	55686453	T	A	T55686453A	PNPT1	NM_033109.5(PNPT1):c.223-9A>T	noncoding	Benign/Likely_benign
2	55693657	C	G	C55693657G	PNPT1	NM_033109.5(PNPT1):c.161+6G>C	noncoding	Benign/Likely_benign
2	55693981	C	G	C55693981G	PNPT1	Single_allele	noncoding	Benign
2	55867075	A	G	A55867075G	EFEMP1	NM_001039348.3(EFEMP1):c.1480T>C:p.Ter494Gln	coding	Pathogenic
2	55867259	G	A	G55867259A	EFEMP1	NM_001039348.3(EFEMP1):c.1321-25C>T	noncoding	Benign
2	55870576	A	G	A55870576G	EFEMP1	NM_001039348.3(EFEMP1):c.1320+144T>C	noncoding	Benign
2	55870839	G	A	G55870839A	EFEMP1	NM_001039348.3(EFEMP1):c.1201C>T:p.Arg401Ter	coding	Pathogenic
2	55871142	A	G	A55871142G	EFEMP1	NM_001039348.3(EFEMP1):c.1001-19T>C	noncoding	Benign
2	55871434	G	C	G55871434C	EFEMP1	NM_001039348.3(EFEMP1):c.1001-311C>G	noncoding	Benign
2	55874691	G	T	G55874691T	EFEMP1	NM_001039348.3(EFEMP1):c.1000+255C>A	noncoding	Benign
2	55874884	T	C	T55874884C	EFEMP1	NM_001039348.3(EFEMP1):c.1000+62A>G	noncoding	Benign
2	55875335	T	C	T55875335C	EFEMP1	NM_001039348.3(EFEMP1):c.881-270A>G	noncoding	Benign
2	55876547	T	C	T55876547C	EFEMP1	NM_001039348.3(EFEMP1):c.880+76A>G	noncoding	Benign
2	55876941	A	T	A55876941T	EFEMP1	NM_001039348.3(EFEMP1):c.761-199T>A	noncoding	Benign
2	55881554	G	A	G55881554A	EFEMP1	NM_001039348.3(EFEMP1):c.640+58C>T	noncoding	Benign
2	55881709	C	T	C55881709T	EFEMP1	NM_001039348.3(EFEMP1):c.543G>A:p.Thr181=	coding	Benign
2	55917944	T	A	T55917944A	EFEMP1	NM_001039348.3(EFEMP1):c.238A>T:p.Asn80Tyr	coding	Pathogenic
2	55918023	G	A	G55918023A	EFEMP1	NM_001039348.3(EFEMP1):c.159C>T:p.Asp53=	coding	Benign
2	55918067	A	G	A55918067G	EFEMP1	NM_001039348.3(EFEMP1):c.131-16T>C	noncoding	Benign
2	55918135	A	G	A55918135G	EFEMP1	NM_001039348.3(EFEMP1):c.130+84T>C	noncoding	Benign
2	55918216	C	T	C55918216T	EFEMP1	NM_001039348.3(EFEMP1):c.130+3G>A	noncoding	Benign
2	55918406	T	C	T55918406C	EFEMP1	NM_001039348.3(EFEMP1):c.82-139A>G	noncoding	Benign
2	55922340	C	G	C55922340G	EFEMP1	NM_001039348.3(EFEMP1):c.81+20G>C	noncoding	Benign
2	58159865	C	T	C58159865T	FANCL	NM_018062.4(FANCL):c.1093-65G>A	coding	Benign
2	58160050	A	G	A58160050G	FANCL	NM_018062.4(FANCL):c.1092+58T>C	noncoding	Benign
2	58161609	A	T	A58161609T	FANCL	NM_018062.4(FANCL):c.933T>A:p.Tyr311Ter	coding	Pathogenic
2	58161929	T	C	T58161929C	FANCL	NM_018062.4(FANCL):c.904-291A>G	noncoding	Benign
2	58163379	C	G	C58163379G	FANCL	NM_018062.4(FANCL):c.775+55G>C	noncoding	Benign
2	58163403	T	C	T58163403C	FANCL	NM_018062.4(FANCL):c.775+31A>G	noncoding	Benign
2	58163412	G	A	G58163412A	FANCL	NM_018062.4(FANCL):c.775+22C>T	noncoding	Benign
2	58163544	T	G	T58163544G	FANCL	NM_018062.4(FANCL):c.692-27A>C	noncoding	Benign
2	58165654	T	C	T58165654C	FANCL	NM_018062.4(FANCL):c.691+70A>G	noncoding	Benign
2	58165850	G	A	G58165850A	FANCL	NM_018062.4(FANCL):c.565C>T:p.Gln189Ter	coding	Pathogenic
2	58203994	T	C	T58203994C	FANCL	NM_018062.4(FANCL):c.471+136A>G	noncoding	Benign
2	58204033	T	C	T58204033C	FANCL	NM_018062.4(FANCL):c.471+97A>G	noncoding	Benign
2	58204239	G	A	G58204239A	FANCL	NM_018062.4(FANCL):c.375-13C>T	noncoding	Benign
2	58204241	A	G	A58204241G	FANCL	NM_018062.4(FANCL):c.375-15T>C	noncoding	Benign
2	58204311	T	C	T58204311C	FANCL	NM_018062.4(FANCL):c.375-85A>G	noncoding	Benign
2	58206498	G	T	G58206498T	FANCL	NM_018062.4(FANCL):c.375-2272C>A	noncoding	Benign
2	58222021	G	A	G58222021A	FANCL	NM_018062.4(FANCL):c.295C>T:p.Gln99Ter	coding	Pathogenic
2	58222164	C	T	C58222164T	FANCL	NM_018062.4(FANCL):c.274-122G>A	noncoding	Benign
2	58226450	T	C	T58226450C	FANCL	NM_018062.4(FANCL):c.273+278A>G	noncoding	Benign
2	58226460	G	A	G58226460A	FANCL	NM_018062.4(FANCL):c.273+268C>T	noncoding	Benign
2	58226485	C	G	C58226485G	FANCL	NM_018062.4(FANCL):c.273+243G>C	noncoding	Benign
2	58229620	A	G	A58229620G	FANCL	NM_018062.4(FANCL):c.216+194T>C	noncoding	Benign
2	58229828	G	A	G58229828A	FANCL	NM_018062.4(FANCL):c.202C>T:p.Arg68Ter	coding	Pathogenic/Likely_pathogenic
2	58241625	A	T	A58241625T	FANCL	Single_allele	noncoding	Benign
2	60460824	A	G	A60460824G	BCL11A	NM_022893.4(BCL11A):c.2088T>C:p.Ser696=	coding	Benign
2	60546208	G	A	G60546208A	BCL11A	NM_022893.4(BCL11A):c.148C>T:p.Gln50Ter	coding	Pathogenic
2	60553236	A	C	A60553236C	BCL11A	NM_022893.4(BCL11A):c.35T>G:p.Leu12Ter	coding	Pathogenic
2	60553268	C	T	C60553268T	BCL11A	NM_022893.4(BCL11A):c.3G>A:p.Met1Ile	coding	Pathogenic
2	60553270	T	C	T60553270C	BCL11A	NM_022893.4(BCL11A):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
2	60916876	G	A	G60916876A	REL	NM_001291746.2(REL):c.395-1G>A	noncoding	Pathogenic
2	60917018	G	A	G60917018A	REL	NM_001291746.2(REL):c.535+1G>A	coding	Pathogenic
2	61017528	A	C	A61017528C	PEX13	NM_144709.4(PUS10):c.-16+480T>G	noncoding	Benign
2	61017805	C	T	C61017805T	PEX13	NM_002618.4(PEX13):c.46C>T:p.Arg16Ter	coding	Pathogenic
2	61018063	A	G	A61018063G	PEX13	NM_002618.4(PEX13):c.92+212A>G	coding	Benign
2	61031467	A	G	A61031467G	PEX13	NM_002618.4(PEX13):c.141A>G:p.Ala47=	coding	Benign/Likely_benign
2	61031693	G	T	G61031693T	PEX13	NM_002618.4(PEX13):c.367G>T:p.Glu123Ter	coding	Pathogenic
2	61045870	G	A	G61045870A	PEX13	NM_002618.4(PEX13):c.913+19G>A	noncoding	Benign
2	61046066	G	A	G61046066A	PEX13	NM_002618.4(PEX13):c.913+215G>A	noncoding	Benign
2	61188357	A	G	A61188357G	USP34	NM_014709.4(USP34):c.10386T>C:p.Ala3462=	coding	Benign
2	61241626	T	C	T61241626C	USP34	NM_014709.4(USP34):c.6711A>G:p.Lys2237=	coding	Benign
2	61350300	T	C	T61350300C	USP34	NM_014709.4(USP34):c.1467A>G:p.Ala489=	coding	Benign
2	61827171	G	A	G61827171A	FAM161A	NM_001201543.2(FAM161A):c.1939C>T:p.Gln647Ter	coding	Pathogenic
2	61827260	T	A	T61827260A	FAM161A	NM_001201543.2(FAM161A):c.1852-2A>T	noncoding	Pathogenic
2	61836012	G	A	G61836012A	FAM161A	NM_001201543.2(FAM161A):c.1849C>T:p.Gln617Ter	coding	Pathogenic
2	61836057	C	A	C61836057A	FAM161A	NM_001201543.2(FAM161A):c.1804G>T:p.Glu602Ter	coding	Pathogenic
2	61836084	C	A	C61836084A	FAM161A	NM_001201543.2(FAM161A):c.1777G>T:p.Glu593Ter	coding	Pathogenic
2	61836102	C	A	C61836102A	FAM161A	NM_001201543.2(FAM161A):c.1759G>T:p.Glu587Ter	coding	Pathogenic
2	61838539	T	A	T61838539A	FAM161A	NM_001201543.2(FAM161A):c.1750A>T:p.Arg584Ter	coding	Pathogenic
2	61838569	G	A	G61838569A	FAM161A	NM_001201543.2(FAM161A):c.1720C>T:p.Gln574Ter	coding	Pathogenic
2	61838624	C	T	C61838624T	FAM161A	NM_001201543.2(FAM161A):c.1665G>A:p.Leu555=	coding	Benign/Likely_benign
2	61838700	G	C	G61838700C	FAM161A	NM_001201543.2(FAM161A):c.1589C>G:p.Ser530Ter	coding	Pathogenic
2	61839434	C	A	C61839434A	FAM161A	NM_001201543.2(FAM161A):c.1570G>T:p.Glu524Ter	coding	Pathogenic
2	61839514	G	C	G61839514C	FAM161A	NM_001201543.2(FAM161A):c.1490C>G:p.Ser497Ter	coding	Pathogenic
2	61839827	G	A	G61839827A	FAM161A	NM_001201543.2(FAM161A):c.1177C>T:p.Gln393Ter	coding	Pathogenic
2	61839909	A	C	A61839909C	FAM161A	NM_001201543.2(FAM161A):c.1095T>G:p.Tyr365Ter	coding	Pathogenic
2	61839920	G	A	G61839920A	FAM161A	NM_001201543.2(FAM161A):c.1084C>T:p.Arg362Ter	coding	Pathogenic
2	61840040	G	A	G61840040A	FAM161A	NM_001201543.2(FAM161A):c.964C>T:p.Gln322Ter	coding	Pathogenic
2	61840058	C	A	C61840058A	FAM161A	NM_001201543.2(FAM161A):c.946G>T:p.Glu316Ter	coding	Pathogenic
2	61840250	T	A	T61840250A	FAM161A	NM_001201543.2(FAM161A):c.754A>T:p.Lys252Ter	coding	Pathogenic
2	61840396	C	T	C61840396T	FAM161A	NM_001201543.2(FAM161A):c.608G>A:p.Trp203Ter	coding	Pathogenic
2	61840436	T	A	T61840436A	FAM161A	NM_001201543.2(FAM161A):c.568A>T:p.Arg190Ter	coding	Pathogenic
2	61840557	A	T	A61840557T	FAM161A	NM_001201543.2(FAM161A):c.447T>A:p.Tyr149Ter	coding	Pathogenic
2	61842377	A	T	A61842377T	FAM161A	NM_001201543.2(FAM161A):c.184-17T>A	noncoding	Benign
2	61842393	C	T	C61842393T	FAM161A	NM_001201543.2(FAM161A):c.184-33G>A	noncoding	Benign
2	61853972	C	A	C61853972A	FAM161A	NM_001201543.2(FAM161A):c.70G>T:p.Gly24Ter	coding	Pathogenic
2	63056043	C	G	C63056043G	OTX1	NM_014562.4(OTX1):c.792C>G:p.Leu264=	coding	Benign
2	63381882	A	T	A63381882T	WDPCP	NM_015910.7(WDPCP):c.1624+24T>A	noncoding	Benign
2	63404208	A	C	A63404208C	WDPCP	NM_015910.7(WDPCP):c.1275T>G:p.Thr425=	coding	Benign/Likely_benign
2	63404504	G	A	G63404504A	WDPCP	NM_015910.7(WDPCP):c.979C>T:p.Gln327Ter	coding	Pathogenic
2	63433815	C	T	C63433815T	WDPCP	NM_015910.7(WDPCP):c.755G>A:p.Trp252Ter	coding	Pathogenic
2	63437507	T	A	T63437507A	WDPCP	NM_015910.7(WDPCP):c.547A>T:p.Lys183Ter	coding	Pathogenic
2	63437513	G	A	G63437513A	WDPCP	NM_015910.7(WDPCP):c.541C>T:p.Gln181Ter	coding	Pathogenic
2	63439737	T	C	T63439737C	WDPCP	NM_015910.7(WDPCP):c.499+20A>G	noncoding	Benign/Likely_benign
2	63439776	G	A	G63439776A	WDPCP	NM_015910.7(WDPCP):c.480C>T:p.Ile160=	coding	Benign
2	63484940	G	A	G63484940A	WDPCP	NM_015910.7(WDPCP):c.301C>T:p.Arg101Ter	coding	Pathogenic
2	63857980	G	A	G63857980A	UGP2	NM_006759.4(UGP2):c.255+44G>A	noncoding	Benign
2	63897588	C	A	C63897588A	VPS54	NM_016516.3(VPS54):c.2736G>T:p.Met912Ile	coding	Benign
2	63916886	A	T	A63916886T	VPS54	NM_016516.3(VPS54):c.2228+14T>A	noncoding	Benign/Likely_benign
2	63916887	A	C	A63916887C	VPS54	NM_016516.3(VPS54):c.2228+13T>G	noncoding	Benign/Likely_benign
2	63962432	A	G	A63962432G	VPS54	NM_016516.3(VPS54):c.636T>C:p.Tyr212=	coding	Benign
2	64989311	C	G	C64989311G	SLC1A4	NM_001193493.2(SLC1A4):c.-134+691C>G	noncoding	Benign
2	64989513	C	G	C64989513G	SLC1A4	NM_003038.5(SLC1A4):c.-131C>G	noncoding	Benign
2	64989514	G	C	G64989514C	SLC1A4	NM_003038.5(SLC1A4):c.-130G>C	noncoding	Benign
2	64989609	C	T	C64989609T	SLC1A4	NM_003038.5(SLC1A4):c.-35C>T	noncoding	Benign
2	64989664	C	A	C64989664A	SLC1A4	NM_003038.5(SLC1A4):c.21C>A:p.Thr7=	coding	Benign
2	64989752	G	C	G64989752C	SLC1A4	NM_003038.5(SLC1A4):c.109G>C:p.Gly37Arg	coding	Benign
2	64989877	C	G	C64989877G	SLC1A4	NM_003038.5(SLC1A4):c.234C>G:p.Pro78=	coding	Benign
2	64989955	G	C	G64989955C	SLC1A4	NM_003038.5(SLC1A4):c.312G>C:p.Ser104=	coding	Benign
2	65001325	C	T	C65001325T	SLC1A4	NM_003038.5(SLC1A4):c.528-123C>T	noncoding	Benign
2	65001462	C	T	C65001462T	SLC1A4	NM_003038.5(SLC1A4):c.542C>T:p.Ser181Phe	coding	Pathogenic
2	65001572	G	A	G65001572A	SLC1A4	NM_003038.5(SLC1A4):c.570+82G>A	noncoding	Benign
2	65003825	G	A	G65003825A	SLC1A4	NM_003038.5(SLC1A4):c.571-128G>A	noncoding	Benign
2	65004111	A	G	A65004111G	SLC1A4	NM_003038.5(SLC1A4):c.633+96A>G	noncoding	Benign
2	65010916	G	A	G65010916A	SLC1A4	NM_003038.5(SLC1A4):c.800+153G>A	noncoding	Benign
2	65016611	C	A	C65016611A	SLC1A4	NM_003038.5(SLC1A4):c.972C>A:p.Asn324Lys	coding	Benign
2	65016688	G	A	G65016688A	SLC1A4	NM_003038.5(SLC1A4):c.1034+15G>A	noncoding	Benign
2	65018158	G	C	G65018158C	SLC1A4	NM_003038.5(SLC1A4):c.1122G>C:p.Gly374=	coding	Benign
2	65018231	G	A	G65018231A	SLC1A4	NM_003038.5(SLC1A4):c.1195G>A:p.Val399Ile	coding	Benign
2	65018783	C	T	C65018783T	SLC1A4	NM_003038.5(SLC1A4):c.1364+104C>T	noncoding	Benign
2	65018989	G	A	G65018989A	SLC1A4	NM_003038.5(SLC1A4):c.1364+310G>A	noncoding	Benign
2	65020671	G	T	G65020671T	SLC1A4	NM_003038.5(SLC1A4):c.1365-241G>T	noncoding	Benign
2	65020749	A	G	A65020749G	SLC1A4	NM_003038.5(SLC1A4):c.1365-163A>G	noncoding	Benign
2	65021137	G	A	G65021137A	SLC1A4	NM_003038.5(SLC1A4):c.1590G>A:p.Ser530=	coding	Benign
2	65334679	A	G	A65334679G	SPRED2	NM_181784.3(SPRED2):c.299T>C:p.Leu100Pro	coding	Pathogenic
2	65344736	G	A	G65344736A	SPRED2	NM_181784.3(SPRED2):c.187C>T:p.Arg63Ter	coding	Pathogenic
2	68180794	A	G	A68180794G	PPP3R1	NM_000945.4(PPP3R1):c.*169T>C	noncoding	Benign
2	68188635	G	A	G68188635A	PPP3R1	NM_000945.4(PPP3R1):c.99C>T:p.Asp33=	coding	Benign
2	68380815	G	T	G68380815T	PLEK	NM_002664.3(PLEK):c.291G>T:p.Lys97Asn	coding	Benign
2	69013206	G	A	G69013206A	ANTXR1	NM_032208.3(ANTXR1):c.-294G>A	noncoding	Benign
2	69013211	G	T	G69013211T	ANTXR1	NM_032208.3(ANTXR1):c.-289G>T	noncoding	Benign
2	69013458	G	A	G69013458A	ANTXR1	NM_032208.3(ANTXR1):c.-42G>A	noncoding	Benign
2	69013519	G	A	G69013519A	ANTXR1	NM_032208.3(ANTXR1):c.20G>A:p.Arg7Lys	coding	Benign
2	69013740	G	C	G69013740C	ANTXR1	NM_032208.3(ANTXR1):c.152+89G>C	noncoding	Benign
2	69039896	A	T	A69039896T	ANTXR1	NM_032208.3(ANTXR1):c.153-148A>T	noncoding	Benign
2	69040002	G	A	G69040002A	ANTXR1	NM_032208.3(ANTXR1):c.153-42G>A	noncoding	Benign
2	69040172	T	C	T69040172C	ANTXR1	NM_032208.3(ANTXR1):c.224+57T>C	noncoding	Benign
2	69040196	A	G	A69040196G	ANTXR1	NM_032208.3(ANTXR1):c.224+81A>G	noncoding	Benign
2	69044961	G	A	G69044961A	ANTXR1	NM_032208.3(ANTXR1):c.296+148G>A	noncoding	Benign
2	69044974	G	A	G69044974A	ANTXR1	NM_032208.3(ANTXR1):c.296+161G>A	noncoding	Benign
2	69044984	C	T	C69044984T	ANTXR1	NM_032208.3(ANTXR1):c.296+171C>T	noncoding	Benign
2	69070490	C	T	C69070490T	ANTXR1	NM_032208.3(ANTXR1):c.297-157C>T	noncoding	Benign
2	69070765	A	G	A69070765G	ANTXR1	NM_032208.3(ANTXR1):c.378+37A>G	noncoding	Benign
2	69070881	C	T	C69070881T	ANTXR1	NM_032208.3(ANTXR1):c.378+153C>T	noncoding	Benign
2	69070882	C	A	C69070882A	ANTXR1	NM_032208.3(ANTXR1):c.378+154C>A	noncoding	Benign
2	69071685	T	C	T69071685C	ANTXR1	NM_032208.3(ANTXR1):c.379-69T>C	noncoding	Benign
2	69071722	T	G	T69071722G	ANTXR1	NM_032208.3(ANTXR1):c.379-32T>G	noncoding	Benign
2	69072955	G	C	G69072955C	ANTXR1	NM_032208.3(ANTXR1):c.413-67G>C	noncoding	Benign
2	69072961	G	A	G69072961A	ANTXR1	NM_032208.3(ANTXR1):c.413-61G>A	noncoding	Benign
2	69073111	G	A	G69073111A	ANTXR1	NM_032208.3(ANTXR1):c.492+10G>A	noncoding	Benign
2	69073142	C	T	C69073142T	ANTXR1	NM_032208.3(ANTXR1):c.492+41C>T	noncoding	Benign
2	69075758	C	T	C69075758T	ANTXR1	NM_032208.3(ANTXR1):c.561+100C>T	noncoding	Benign
2	69077587	T	C	T69077587C	ANTXR1	NM_032208.3(ANTXR1):c.642+99T>C	noncoding	Benign
2	69077647	C	T	C69077647T	ANTXR1	NM_032208.3(ANTXR1):c.642+159C>T	noncoding	Benign
2	69090793	G	A	G69090793A	ANTXR1	NM_032208.3(ANTXR1):c.643-66G>A	noncoding	Benign
2	69090997	T	G	T69090997G	ANTXR1	NM_032208.3(ANTXR1):c.703+78T>G	noncoding	Benign
2	69091029	T	G	T69091029G	ANTXR1	NM_032208.3(ANTXR1):c.703+110T>G	noncoding	Benign
2	69102650	T	C	T69102650C	ANTXR1	NM_032208.3(ANTXR1):c.704-192T>C	noncoding	Benign
2	69102986	A	G	A69102986G	ANTXR1	NM_032208.3(ANTXR1):c.802+46A>G	noncoding	Benign
2	69122977	T	C	T69122977C	ANTXR1	NM_032208.3(ANTXR1):c.803-40T>C	noncoding	Benign
2	69123211	G	A	G69123211A	ANTXR1	NM_032208.3(ANTXR1):c.872+125G>A	noncoding	Benign
2	69124409	A	G	A69124409G	ANTXR1	NM_032208.3(ANTXR1):c.873-156A>G	noncoding	Benign
2	69124485	G	A	G69124485A	ANTXR1	NM_032208.3(ANTXR1):c.873-80G>A	noncoding	Benign
2	69124489	T	A	T69124489A	ANTXR1	NM_032208.3(ANTXR1):c.873-76T>A	noncoding	Benign
2	69124831	G	A	G69124831A	ANTXR1	NM_032208.3(ANTXR1):c.951+188G>A	noncoding	Benign
2	69145454	A	G	A69145454G	ANTXR1	NM_032208.3(ANTXR1):c.952-6715A>G	coding	Benign
2	69152148	G	A	G69152148A	ANTXR1	NM_032208.3(ANTXR1):c.952-21G>A	noncoding	Benign
2	69170025	G	A	G69170025A	ANTXR1	NM_032208.3(ANTXR1):c.1048-223G>A	noncoding	Benign
2	69170462	C	T	C69170462T	ANTXR1	NM_032208.3(ANTXR1):c.1089+173C>T	noncoding	Benign
2	69193459	T	A	T69193459A	ANTXR1	NM_032208.3(ANTXR1):c.1434+44T>A	noncoding	Benign
2	69193461	A	T	A69193461T	ANTXR1	NM_032208.3(ANTXR1):c.1434+46A>T	noncoding	Benign
2	69193464	T	C	T69193464C	ANTXR1	NM_032208.3(ANTXR1):c.1434+49T>C	noncoding	Benign
2	69193490	C	T	C69193490T	ANTXR1	NM_032208.3(ANTXR1):c.1434+75C>T	noncoding	Benign
2	69245153	G	A	G69245153A	ANTXR1	NM_032208.3(ANTXR1):c.1435-72G>A	noncoding	Benign
2	69245287	C	T	C69245287T	ANTXR1	NM_032208.3(ANTXR1):c.1497C>T:p.Asn499=	coding	Benign
2	69245501	C	G	C69245501G	ANTXR1	NM_032208.3(ANTXR1):c.*16C>G	noncoding	Benign
2	69326243	G	A	G69326243A	GFPT1	NM_001244710.2(GFPT1):c.2056-10C>T	noncoding	Benign/Likely_benign
2	69326526	A	C	A69326526C	GFPT1	NM_001244710.2(GFPT1):c.2056-293T>G	noncoding	Benign
2	69328701	C	T	C69328701T	GFPT1	NM_001244710.2(GFPT1):c.1726-263G>A	noncoding	Benign
2	69329283	C	T	C69329283T	GFPT1	NM_001244710.2(GFPT1):c.1725+14G>A	noncoding	Benign
2	69338324	C	G	C69338324G	GFPT1	NM_001244710.2(GFPT1):c.1324+121G>C	noncoding	Benign
2	69348249	G	A	G69348249A	GFPT1	NM_001244710.2(GFPT1):c.931C>T:p.Arg311Ter	coding	Pathogenic
2	69354313	C	T	C69354313T	GFPT1	NM_001244710.2(GFPT1):c.686-1G>A	coding	Pathogenic
2	69356740	C	T	C69356740T	GFPT1	NM_001244710.2(GFPT1):c.544-183G>A	noncoding	Benign
2	69359171	C	T	C69359171T	GFPT1	NM_001244710.2(GFPT1):c.408+97G>A	noncoding	Benign
2	69363562	C	T	C69363562T	GFPT1	NM_001244710.2(GFPT1):c.332G>A:p.Arg111His	coding	Pathogenic
2	69396004	A	G	A69396004G	NFU1	NM_001002755.3(NFU1):c.*242T>C	noncoding	Benign
2	69400385	C	T	C69400385T	NFU1	NM_001002755.4(NFU1):c.699G>A:p.Pro233=	coding	Benign
2	69415059	G	A	G69415059A	NFU1	NM_001002755.4(NFU1):c.484+126C>T	noncoding	Benign
2	69415249	T	A	T69415249A	NFU1	NM_001002755.4(NFU1):c.420A>T:p.Thr140=	coding	Benign/Likely_benign
2	69415440	T	C	T69415440C	NFU1	NM_001002755.4(NFU1):c.370-141A>G	noncoding	Benign
2	69423579	T	C	T69423579C	NFU1	NM_001002755.4(NFU1):c.302+3A>G	noncoding	Pathogenic
2	69423845	G	A	G69423845A	NFU1	NM_001002755.4(NFU1):c.167-128C>T	noncoding	Benign
2	70212739	C	T	C70212739T	TIA1	NM_022173.4(TIA1):c.1141G>A:p.Ala381Thr	coding	Pathogenic
2	70214229	G	A	G70214229A	TIA1	NM_022173.4(TIA1):c.1034+120C>T	noncoding	Benign
2	70214643	A	C	A70214643C	TIA1	NM_022173.4(TIA1):c.889-149T>G	noncoding	Benign
2	70214651	A	C	A70214651C	TIA1	NM_022173.4(TIA1):c.889-157T>G	noncoding	Benign
2	70215660	T	C	T70215660C	TIA1	NM_022173.4(TIA1):c.765-166A>G	noncoding	Benign
2	70216033	T	C	T70216033C	TIA1	NM_022173.4(TIA1):c.764+175A>G	noncoding	Benign
2	70216386	C	A	C70216386A	TIA1	NM_022173.4(TIA1):c.679+18G>T	noncoding	Benign/Likely_benign
2	70224270	G	C	G70224270C	TIA1	NM_022173.4(TIA1):c.474+284C>G	noncoding	Benign
2	70224652	G	A	G70224652A	TIA1	NM_022173.4(TIA1):c.399-23C>T	noncoding	Benign
2	70227662	G	C	G70227662C	TIA1	NM_022173.4(TIA1):c.398+73C>G	noncoding	Benign
2	70228072	C	T	C70228072T	TIA1	NM_022173.4(TIA1):c.311-250G>A	noncoding	Benign
2	70228775	A	G	A70228775G	TIA1	NM_022173.4(TIA1):c.310+284T>C	noncoding	Benign
2	70229206	C	T	C70229206T	TIA1	NM_022173.4(TIA1):c.277+58G>A	noncoding	Benign
2	70229454	C	T	C70229454T	TIA1	NM_022173.4(TIA1):c.223-136G>A	noncoding	Benign
2	70236109	T	C	T70236109C	TIA1	NM_022173.4(TIA1):c.93A>G:p.Gly31=	coding	Benign
2	70236189	A	C	A70236189C	TIA1	NM_022173.4(TIA1):c.27-14T>G	noncoding	Benign
2	70248567	G	A	G70248567A	TIA1	NM_022173.4(TIA1):c.-137C>T	noncoding	Benign
2	70248695	T	G	T70248695G	TIA1	NM_022037.3(TIA1):c.-265A>C	noncoding	Benign
2	70248801	T	G	T70248801G	TIA1	Single_allele	noncoding	Benign
2	70777956	A	G	A70777956G	FIGLA	NM_001004311.3(FIGLA):c.610-285T>C	noncoding	Benign
2	70777969	C	G	C70777969G	FIGLA	NM_001004311.3(FIGLA):c.610-298G>C	noncoding	Benign
2	70785088	G	A	G70785088A	FIGLA	NM_001004311.3(FIGLA):c.609+327C>T	noncoding	Benign
2	70785213	T	G	T70785213G	FIGLA	NM_001004311.3(FIGLA):c.609+202A>C	noncoding	Benign
2	70785267	A	C	A70785267C	FIGLA	NM_001004311.3(FIGLA):c.609+148T>G	noncoding	Benign
2	70785814	C	A	C70785814A	FIGLA	NM_001004311.3(FIGLA):c.385-175G>T	noncoding	Benign
2	70785907	C	T	C70785907T	FIGLA	NM_001004311.3(FIGLA):c.385-268G>A	noncoding	Benign
2	70787594	T	C	T70787594C	FIGLA	NM_001004311.3(FIGLA):c.384+55A>G	noncoding	Benign
2	70790197	A	G	A70790197G	FIGLA	NM_001004311.3(FIGLA):c.231+211T>C	noncoding	Benign
2	70790384	A	G	A70790384G	FIGLA	NM_001004311.3(FIGLA):c.231+24T>C	noncoding	Benign
2	70790960	G	A	G70790960A	FIGLA	Single_allele	noncoding	Benign
2	70935643	C	T	C70935643T	ATP6V1B1	Single_allele	noncoding	Benign
2	70935800	A	G	A70935800G	ATP6V1B1	Single_allele	noncoding	Benign
2	70936021	C	T	C70936021T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.67C>T:p.Arg23Ter	coding	Pathogenic
2	70936090	C	T	C70936090T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.118+18C>T	noncoding	Benign/Likely_benign
2	70936095	C	T	C70936095T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.118+23C>T	noncoding	Benign
2	70936220	C	T	C70936220T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.118+148C>T	noncoding	Benign
2	70936260	G	A	G70936260A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.118+188G>A	noncoding	Benign
2	70943438	C	T	C70943438T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.119-220C>T	noncoding	Benign
2	70943662	C	G	C70943662G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.123C>G:p.Tyr41Ter	coding	Pathogenic
2	70943762	G	A	G70943762A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.174+49G>A	noncoding	Benign
2	70957848	T	C	T70957848C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.175-198T>C	noncoding	Benign
2	70958261	A	C	A70958261C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.274-72A>C	noncoding	Benign
2	70958726	C	A	C70958726A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.368-292C>A	noncoding	Benign
2	70959252	G	A	G70959252A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.445+157G>A	noncoding	Benign
2	70959970	C	A	C70959970A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.477C>A:p.Tyr159Ter	coding	Pathogenic
2	70960781	G	A	G70960781A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.586-140G>A	noncoding	Benign
2	70960874	G	T	G70960874T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.586-47G>T	noncoding	Benign
2	70961185	G	A	G70961185A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.687+163G>A	noncoding	Benign
2	70961331	G	C	G70961331C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.688-265G>C	noncoding	Benign
2	70962595	G	A	G70962595A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.786-182G>A	noncoding	Benign
2	70963177	G	T	G70963177T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.925G>T:p.Glu309Ter	coding	Pathogenic
2	70963415	G	A	G70963415A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1060+103G>A	noncoding	Benign
2	70963525	G	A	G70963525A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1061-47G>A	noncoding	Benign
2	70963637	C	T	C70963637T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1126C>T:p.Gln376Ter	coding	Pathogenic
2	70964137	G	T	G70964137T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1144-301G>T	noncoding	Benign
2	70964443	C	A	C70964443A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1149C>A:p.Tyr383Ter	coding	Pathogenic
2	70964472	C	A	C70964472A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1178C>A:p.Ser393Ter	coding	Pathogenic
2	70964487	C	A	C70964487A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1193C>A:p.Ser398Ter	coding	Pathogenic
2	70964647	C	T	C70964647T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1249-89C>T	noncoding	Benign
2	71109670	A	T	A71109670T	MCEE	NM_032601.3(MCEE):c.*300T>A	noncoding	Benign/Likely_benign
2	71110295	G	A	G71110295A	MCEE	NM_032601.4(MCEE):c.379-173C>T	noncoding	Benign
2	71110403	G	C	G71110403C	MCEE	NM_032601.4(MCEE):c.379-281C>G	noncoding	Benign
2	71110697	C	T	C71110697T	MCEE	NM_032601.4(MCEE):c.379-575G>A	noncoding	Benign
2	71110808	G	A	G71110808A	MCEE	NM_032601.4(MCEE):c.379-686C>T	noncoding	Benign
2	71110954	A	C	A71110954C	MCEE	NM_032601.4(MCEE):c.379-832T>G	noncoding	Benign
2	71124556	A	T	A71124556T	MCEE	NM_032601.4(MCEE):c.41-13T>A	noncoding	Benign/Likely_benign
2	71124649	T	C	T71124649C	MCEE	NM_032601.4(MCEE):c.41-106A>G	noncoding	Benign
2	71130065	C	A	C71130065A	MCEE	NM_032601.4(MCEE):c.40+115G>T	noncoding	Benign
2	71130287	C	A	C71130287A	MCEE	Single_allele	noncoding	Benign
2	71130375	C	T	C71130375T	MCEE	Single_allele	noncoding	Benign
2	71130504	C	T	C71130504T	MCEE	Single_allele	noncoding	Benign
2	71130580	G	C	G71130580C	MCEE	Single_allele	noncoding	Benign
2	71406145	T	C	T71406145C	ZNF638	NM_014497.5(ZNF638):c.3018T>C:p.Ile1006=	coding	Benign
2	71406259	C	T	C71406259T	ZNF638	NM_014497.5(ZNF638):c.3132C>T:p.Asn1044=	coding	Benign
2	71454022	T	G	T71454022G	DYSF	NM_003494.4(DYSF):c.24T>G:p.Tyr8Ter	coding	Pathogenic
2	71466543	C	A	C71466543A	DYSF	NM_003494.4(DYSF):c.88+12457C>A	noncoding	Benign
2	71466983	C	T	C71466983T	DYSF	NM_001130987.2(DYSF):c.91+50C>T	noncoding	Benign
2	71481071	T	C	T71481071C	DYSF	NM_001130987.2(DYSF):c.147+133T>C	noncoding	Benign
2	71481680	T	G	T71481680G	DYSF	NM_001130987.2(DYSF):c.148-199T>G	noncoding	Benign
2	71481788	C	T	C71481788T	DYSF	NM_001130987.2(DYSF):c.148-91C>T	noncoding	Benign
2	71496561	G	A	G71496561A	DYSF	NM_001130987.2(DYSF):c.240-6653G>A	noncoding	Benign
2	71503019	C	T	C71503019T	DYSF	NM_001130987.2(DYSF):c.240-195C>T	noncoding	Benign
2	71503320	G	T	G71503320T	DYSF	NM_001130987.2(DYSF):c.345+1G>T	coding	Pathogenic
2	71503551	C	T	C71503551T	DYSF	NM_001130987.2(DYSF):c.345+232C>T	noncoding	Benign
2	71512003	C	T	C71512003T	DYSF	NM_001130987.2(DYSF):c.460+82C>T	noncoding	Benign/Likely_benign
2	71513012	G	A	G71513012A	DYSF	NM_001130987.2(DYSF):c.461-228G>A	noncoding	Benign
2	71513830	C	A	C71513830A	DYSF	NM_001130987.2(DYSF):c.668C>A:p.Ser223Ter	coding	Pathogenic
2	71513972	C	T	C71513972T	DYSF	NM_001130987.2(DYSF):c.759+51C>T	noncoding	Benign
2	71515632	C	T	C71515632T	DYSF	NM_001130987.2(DYSF):c.769C>T:p.Gln257Ter	coding	Pathogenic
2	71515660	G	A	G71515660A	DYSF	NM_001130987.2(DYSF):c.797G>A:p.Gly266Glu	coding	Pathogenic/Likely_pathogenic
2	71515716	C	T	C71515716T	DYSF	NM_001130987.2(DYSF):c.853C>T:p.Arg285Trp	coding	Pathogenic/Likely_pathogenic
2	71516341	C	T	C71516341T	DYSF	NM_001130987.2(DYSF):c.951+99C>T	noncoding	Benign
2	71517043	A	G	A71517043G	DYSF	NM_001130987.2(DYSF):c.1002+4A>G	noncoding	Pathogenic
2	71517128	T	C	T71517128C	DYSF	NM_001130987.2(DYSF):c.1002+89T>C	noncoding	Benign
2	71520901	G	A	G71520901A	DYSF	NM_001130987.2(DYSF):c.1146G>A:p.Ala382=	coding	Benign
2	71526200	G	A	G71526200A	DYSF	NM_001130987.2(DYSF):c.1150-20G>A	noncoding	Benign
2	71526351	G	A	G71526351A	DYSF	NM_001130987.2(DYSF):c.1276+5G>A	noncoding	Pathogenic/Likely_pathogenic
2	71528351	A	T	A71528351T	DYSF	NM_001130987.2(DYSF):c.1330A>T:p.Lys444Ter	coding	Pathogenic
2	71528393	G	A	G71528393A	DYSF	NM_001130987.2(DYSF):c.1372G>A:p.Gly458Arg	coding	Pathogenic/Likely_pathogenic
2	71528402	G	C	G71528402C	DYSF	NM_001130987.2(DYSF):c.1380+1G>C	coding	Pathogenic
2	71535142	C	T	C71535142T	DYSF	NM_001130987.2(DYSF):c.1449+53C>T	noncoding	Benign
2	71535312	G	C	G71535312C	DYSF	NM_001130987.2(DYSF):c.1493+1G>C	coding	Pathogenic
2	71539042	C	G	C71539042G	DYSF	NM_001130987.2(DYSF):c.1494-115C>G	noncoding	Benign
2	71539157	G	A	G71539157A	DYSF	NM_001130987.2(DYSF):c.1494G>A:p.Trp498Ter	coding	Pathogenic
2	71539369	C	G	C71539369G	DYSF	NM_001130987.2(DYSF):c.1576+130C>G	noncoding	Benign
2	71551157	G	A	G71551157A	DYSF	NM_001130987.2(DYSF):c.1692+1G>A	coding	Pathogenic
2	71551558	C	T	C71551558T	DYSF	NM_001130987.2(DYSF):c.1693-49C>T	noncoding	Benign
2	71553190	T	C	T71553190C	DYSF	NM_001130987.2(DYSF):c.1984+2T>C	noncoding	Pathogenic
2	71553761	G	C	G71553761C	DYSF	NM_001130987.2(DYSF):c.1985-46G>C	noncoding	Benign
2	71553806	G	T	G71553806T	DYSF	NM_001130987.2(DYSF):c.1985-1G>T	noncoding	Pathogenic
2	71553899	C	T	C71553899T	DYSF	NM_001130987.2(DYSF):c.2077C>T:p.Gln693Ter	coding	Pathogenic
2	71553981	A	G	A71553981G	DYSF	NM_001130987.2(DYSF):c.2109+50A>G	noncoding	Benign
2	71556004	C	T	C71556004T	DYSF	NM_001130987.2(DYSF):c.2149C>T:p.Gln717Ter	coding	Pathogenic
2	71561649	C	T	C71561649T	DYSF	NM_001130987.2(DYSF):c.2217-103C>T	noncoding	Benign
2	71561801	C	T	C71561801T	DYSF	NM_001130987.2(DYSF):c.2266C>T:p.Gln756Ter	coding	Pathogenic
2	71563941	A	G	A71563941G	DYSF	NM_001130987.2(DYSF):c.2410-117A>G	noncoding	Benign/Likely_benign
2	71564120	C	A	C71564120A	DYSF	NM_001130987.2(DYSF):c.2472C>A:p.Tyr824Ter	coding	Pathogenic
2	71564171	C	G	C71564171G	DYSF	NM_001130987.2(DYSF):c.2523C>G:p.Tyr841Ter	coding	Pathogenic
2	71567990	C	T	C71567990T	DYSF	NM_001130987.2(DYSF):c.2605C>T:p.Gln869Ter	coding	Pathogenic
2	71568009	G	A	G71568009A	DYSF	NM_001130987.2(DYSF):c.2624G>A:p.Trp875Ter	coding	Pathogenic
2	71568397	C	T	C71568397T	DYSF	NM_001130987.2(DYSF):c.2864+59C>T	noncoding	Benign
2	71569860	G	T	G71569860T	DYSF	NM_001130987.2(DYSF):c.2905G>T:p.Glu969Ter	coding	Pathogenic
2	71569911	A	C	A71569911C	DYSF	NM_001130987.2(DYSF):c.2956A>C:p.Met986Leu	coding	Benign
2	71570267	C	A	C71570267A	DYSF	NM_001130987.2(DYSF):c.3018C>A:p.Cys1006Ter	coding	Pathogenic
2	71570299	G	A	G71570299A	DYSF	NM_001130987.2(DYSF):c.3050G>A:p.Trp1017Ter	coding	Pathogenic
2	71570647	G	A	G71570647A	DYSF	NM_001130987.2(DYSF):c.3134G>A:p.Trp1045Ter	coding	Pathogenic
2	71570685	C	T	C71570685T	DYSF	NM_001130987.2(DYSF):c.3172C>T:p.Arg1058Trp	coding	Pathogenic/Likely_pathogenic
2	71574167	G	A	G71574167A	DYSF	NM_001130987.2(DYSF):c.3229-31G>A	noncoding	Benign/Likely_benign
2	71574222	G	T	G71574222T	DYSF	NM_001130987.2(DYSF):c.3253G>T:p.Glu1085Ter	coding	Pathogenic/Likely_pathogenic
2	71574434	G	A	G71574434A	DYSF	NM_001130987.2(DYSF):c.3402+63G>A	noncoding	Benign
2	71590441	A	T	A71590441T	DYSF	NM_001130987.2(DYSF):c.3574+153A>T	noncoding	Benign
2	71598552	C	T	C71598552T	DYSF	NM_001130987.2(DYSF):c.3575-12C>T	noncoding	Benign/Likely_benign
2	71598562	A	G	A71598562G	DYSF	NM_001130987.2(DYSF):c.3575-2A>G	noncoding	Pathogenic
2	71598563	G	A	G71598563A	DYSF	NM_001130987.2(DYSF):c.3575-1G>A	noncoding	Pathogenic
2	71599018	G	A	G71599018A	DYSF	NM_001130987.2(DYSF):c.3756+273G>A	noncoding	Benign
2	71600843	G	A	G71600843A	DYSF	NM_001130987.2(DYSF):c.3897+1G>A	coding	Pathogenic/Likely_pathogenic
2	71601625	C	T	C71601625T	DYSF	NM_001130987.2(DYSF):c.3927+97C>T	noncoding	Benign
2	71602503	G	A	G71602503A	DYSF	NM_001130987.2(DYSF):c.3928-273G>A	noncoding	Benign
2	71602779	C	T	C71602779T	DYSF	NM_001130987.2(DYSF):c.3931C>T:p.Gln1311Ter	coding	Pathogenic
2	71611308	C	T	C71611308T	DYSF	NM_001130987.2(DYSF):c.4021C>T:p.Gln1341Ter	coding	Pathogenic
2	71611344	G	A	G71611344A	DYSF	NM_001130987.2(DYSF):c.4057G>A:p.Glu1353Lys	coding	Pathogenic/Likely_pathogenic
2	71611347	G	A	G71611347A	DYSF	NM_001130987.2(DYSF):c.4059+1G>A	coding	Pathogenic
2	71611476	G	A	G71611476A	DYSF	NM_001130987.2(DYSF):c.4071G>A:p.Trp1357Ter	coding	Pathogenic
2	71613360	G	T	G71613360T	DYSF	NM_001130987.2(DYSF):c.4414G>T:p.Glu1472Ter	coding	Pathogenic/Likely_pathogenic
2	71620859	T	A	T71620859A	DYSF	NM_001130987.2(DYSF):c.4527+250T>A	noncoding	Benign
2	71658944	C	T	C71658944T	DYSF	NM_001130987.2(DYSF):c.4822C>T:p.Gln1608Ter	coding	Pathogenic/Likely_pathogenic
2	71665175	C	T	C71665175T	DYSF	NM_001130987.2(DYSF):c.5188C>T:p.Gln1730Ter	coding	Pathogenic
2	71665182	G	A	G71665182A	DYSF	NM_001130987.2(DYSF):c.5195G>A:p.Arg1732Gln	coding	Pathogenic/Likely_pathogenic
2	71669110	A	G	A71669110G	DYSF	NM_001130987.2(DYSF):c.5547-2A>G	noncoding	Pathogenic/Likely_pathogenic
2	71669111	G	C	G71669111C	DYSF	NM_001130987.2(DYSF):c.5547-1G>C	noncoding	Pathogenic/Likely_pathogenic
2	71669136	G	A	G71669136A	DYSF	NM_001130987.2(DYSF):c.5571G>A:p.Trp1857Ter	coding	Pathogenic
2	71669143	A	T	A71669143T	DYSF	NM_001130987.2(DYSF):c.5578A>T:p.Arg1860Ter	coding	Pathogenic
2	71669633	C	T	C71669633T	DYSF	NM_001130987.2(DYSF):c.5671C>T:p.Gln1891Ter	coding	Pathogenic
2	71669680	C	A	C71669680A	DYSF	NM_001130987.2(DYSF):c.5718C>A:p.Phe1906Leu	coding	Pathogenic
2	71673284	C	T	C71673284T	DYSF	NM_001130987.2(DYSF):c.5785-913C>T	noncoding	Benign
2	71673555	G	A	G71673555A	DYSF	NM_001130987.2(DYSF):c.5785-642G>A	noncoding	Benign
2	71674261	G	A	G71674261A	DYSF	NM_001130987.2(DYSF):c.5849G>A:p.Trp1950Ter	coding	Pathogenic
2	71679065	C	T	C71679065T	DYSF	NM_001130987.2(DYSF):c.5893C>T:p.Gln1965Ter	coding	Pathogenic
2	71679115	C	A	C71679115A	DYSF	NM_001130987.2(DYSF):c.5943C>A:p.Cys1981Ter	coding	Pathogenic
2	71679197	C	T	C71679197T	DYSF	NM_001130987.2(DYSF):c.6025C>T:p.Pro2009Ser	coding	Pathogenic/Likely_pathogenic
2	71680850	A	G	A71680850G	DYSF	NM_001130987.2(DYSF):c.6064-151A>G	noncoding	Benign
2	71682447	T	A	T71682447A	DYSF	NM_001130987.2(DYSF):c.6174-83T>A	noncoding	Benign
2	71686466	A	G	A71686466G	DYSF	NM_001130987.2(DYSF):c.6334A>G:p.Met2112Val	coding	Pathogenic
2	71686691	T	G	T71686691G	DYSF	NM_001130987.2(DYSF):c.*199T>G	noncoding	Benign/Likely_benign
2	72132183	A	G	A72132183G	CYP26B1	NM_019885.4(CYP26B1):c.*44T>C	noncoding	Benign
2	72132389	A	G	A72132389G	CYP26B1	NM_019885.4(CYP26B1):c.1377T>C:p.Ala459=	coding	Benign
2	72132639	G	A	G72132639A	CYP26B1	NM_019885.4(CYP26B1):c.1147-20C>T	noncoding	Benign/Likely_benign
2	72134736	C	A	C72134736A	CYP26B1	NM_019885.4(CYP26B1):c.861+25G>T	noncoding	Benign
2	72134831	A	G	A72134831G	CYP26B1	NM_019885.4(CYP26B1):c.791T>C:p.Leu264Ser	coding	Benign
2	72144446	G	A	G72144446A	CYP26B1	NM_019885.4(CYP26B1):c.205-233C>T	noncoding	Benign
2	72147649	G	T	G72147649T	CYP26B1	NM_019885.4(CYP26B1):c.186C>A:p.Thr62=	coding	Benign
2	72184058	T	C	T72184058C	EXOC6B	NM_015189.3(EXOC6B):c.2309+17A>G	noncoding	Benign
2	72334977	C	T	C72334977T	EXOC6B	NM_015189.3(EXOC6B):c.2166G>A:p.Thr722=	coding	Benign
2	72379878	A	G	A72379878G	EXOC6B	NM_015189.3(EXOC6B):c.1981-8T>C	noncoding	Benign
2	72480745	A	G	A72480745G	EXOC6B	NM_015189.3(EXOC6B):c.1671T>C:p.Val557=	coding	Benign
2	72480754	G	A	G72480754A	EXOC6B	NM_015189.3(EXOC6B):c.1666-4C>T	noncoding	Benign
2	72498563	T	C	T72498563C	EXOC6B	NM_015189.3(EXOC6B):c.1240-12A>G	noncoding	Benign
2	72513186	A	G	A72513186G	EXOC6B	NM_015189.3(EXOC6B):c.1113T>C:p.Asp371=	coding	Benign
2	72559534	G	A	G72559534A	EXOC6B	NM_015189.3(EXOC6B):c.847-13C>T	noncoding	Benign
2	72575510	G	A	G72575510A	EXOC6B	NM_015189.3(EXOC6B):c.828C>T:p.Asp276=	coding	Benign
2	72718092	C	A	C72718092A	EXOC6B	NM_015189.3(EXOC6B):c.669+11G>T	noncoding	Benign
2	72718301	A	G	A72718301G	EXOC6B	NM_015189.3(EXOC6B):c.471T>C:p.Tyr157=	coding	Benign
2	72718326	A	T	A72718326T	EXOC6B	NM_015189.3(EXOC6B):c.465-19T>A	noncoding	Benign
2	72731172	A	C	A72731172C	EXOC6B	NM_015189.3(EXOC6B):c.401T>G:p.Leu134Ter	coding	Pathogenic
2	72731204	T	C	T72731204C	EXOC6B	NM_015189.3(EXOC6B):c.369A>G:p.Gln123=	coding	Benign
2	72887223	A	C	A72887223C	SPR	NC_000002.11:g.73114352A>C	noncoding	Benign
2	72887420	G	A	G72887420A	SPR	NM_003124.5(SPR):c.-13G>A	noncoding	Pathogenic
2	72887959	T	G	T72887959G	SPR	NM_003124.5(SPR):c.304+223T>G	noncoding	Benign
2	72888188	C	A	C72888188A	SPR	NM_003124.5(SPR):c.305-126C>A	noncoding	Benign
2	72888553	C	T	C72888553T	SPR	NM_003124.5(SPR):c.544C>T:p.Gln182Ter	coding	Pathogenic
2	72888636	C	G	C72888636G	SPR	NM_003124.5(SPR):c.595+32C>G	noncoding	Benign
2	72888868	G	A	G72888868A	SPR	NM_003124.5(SPR):c.595+264G>A	noncoding	Benign
2	73385929	G	T	G73385929T	ALMS1	NM_001378454.1(ALMS1):c.61G>T:p.Glu21Ter	coding	Pathogenic
2	73385941	G	T	G73385941T	ALMS1	NM_001378454.1(ALMS1):c.73G>T:p.Glu25Ter	coding	Pathogenic
2	73386029	T	A	T73386029A	ALMS1	NM_001378454.1(ALMS1):c.161T>A:p.Leu54Ter	coding	Pathogenic/Likely_pathogenic
2	73386064	G	T	G73386064T	ALMS1	NM_001378454.1(ALMS1):c.196G>T:p.Glu66Ter	coding	Pathogenic
2	73386079	G	T	G73386079T	ALMS1	NM_001378454.1(ALMS1):c.211G>T:p.Glu71Ter	coding	Pathogenic
2	73419243	G	T	G73419243T	ALMS1	NM_001378454.1(ALMS1):c.571G>T:p.Glu191Ter	coding	Pathogenic
2	73419291	A	T	A73419291T	ALMS1	NM_001378454.1(ALMS1):c.619A>T:p.Arg207Ter	coding	Pathogenic
2	73424522	C	G	C73424522G	ALMS1	NM_001378454.1(ALMS1):c.857C>G:p.Ser286Ter	coding	Pathogenic/Likely_pathogenic
2	73426506	G	T	G73426506T	ALMS1	NM_001378454.1(ALMS1):c.1291G>T:p.Glu431Ter	coding	Pathogenic
2	73426572	A	G	A73426572G	ALMS1	NM_001378454.1(ALMS1):c.1338+19A>G	noncoding	Benign
2	73432207	G	T	G73432207T	ALMS1	NM_001378454.1(ALMS1):c.1348G>T:p.Glu450Ter	coding	Pathogenic
2	73432218	T	A	T73432218A	ALMS1	NM_001378454.1(ALMS1):c.1359T>A:p.Tyr453Ter	coding	Pathogenic
2	73447974	G	T	G73447974T	ALMS1	NM_001378454.1(ALMS1):c.1447G>T:p.Gly483Ter	coding	Pathogenic
2	73448007	A	T	A73448007T	ALMS1	NM_001378454.1(ALMS1):c.1480A>T:p.Lys494Ter	coding	Pathogenic
2	73448152	T	A	T73448152A	ALMS1	NM_001378454.1(ALMS1):c.1625T>A:p.Leu542Ter	coding	Pathogenic/Likely_pathogenic
2	73448283	C	T	C73448283T	ALMS1	NM_001378454.1(ALMS1):c.1756C>T:p.Gln586Ter	coding	Pathogenic
2	73448371	C	G	C73448371G	ALMS1	NM_001378454.1(ALMS1):c.1844C>G:p.Ser615Ter	coding	Pathogenic
2	73448427	C	T	C73448427T	ALMS1	NM_001378454.1(ALMS1):c.1900C>T:p.Gln634Ter	coding	Pathogenic
2	73448568	C	T	C73448568T	ALMS1	NM_001378454.1(ALMS1):c.2041C>T:p.Gln681Ter	coding	Pathogenic
2	73448598	C	T	C73448598T	ALMS1	NM_001378454.1(ALMS1):c.2071C>T:p.Gln691Ter	coding	Pathogenic
2	73448991	C	T	C73448991T	ALMS1	NM_001378454.1(ALMS1):c.2464C>T:p.Gln822Ter	coding	Pathogenic
2	73449040	C	A	C73449040A	ALMS1	NM_001378454.1(ALMS1):c.2513C>A:p.Ser838Ter	coding	Pathogenic
2	73449063	G	T	G73449063T	ALMS1	NM_001378454.1(ALMS1):c.2536G>T:p.Gly846Ter	coding	Pathogenic
2	73449253	C	G	C73449253G	ALMS1	NM_001378454.1(ALMS1):c.2726C>G:p.Ser909Ter	coding	Pathogenic
2	73449312	G	T	G73449312T	ALMS1	NM_001378454.1(ALMS1):c.2785G>T:p.Glu929Ter	coding	Pathogenic
2	73449423	C	T	C73449423T	ALMS1	NM_001378454.1(ALMS1):c.2896C>T:p.Gln966Ter	coding	Pathogenic
2	73449639	C	T	C73449639T	ALMS1	NM_001378454.1(ALMS1):c.3112C>T:p.Gln1038Ter	coding	Pathogenic
2	73449949	C	G	C73449949G	ALMS1	NM_001378454.1(ALMS1):c.3422C>G:p.Ser1141Ter	coding	Pathogenic
2	73449963	C	T	C73449963T	ALMS1	NM_001378454.1(ALMS1):c.3436C>T:p.Gln1146Ter	coding	Pathogenic
2	73450103	C	G	C73450103G	ALMS1	NM_001378454.1(ALMS1):c.3576C>G:p.Tyr1192Ter	coding	Pathogenic
2	73450176	A	T	A73450176T	ALMS1	NM_001378454.1(ALMS1):c.3649A>T:p.Lys1217Ter	coding	Pathogenic
2	73450418	C	A	C73450418A	ALMS1	NM_001378454.1(ALMS1):c.3891C>A:p.Tyr1297Ter	coding	Pathogenic
2	73450670	C	A	C73450670A	ALMS1	NM_001378454.1(ALMS1):c.4143C>A:p.Tyr1381Ter	coding	Pathogenic
2	73450737	G	T	G73450737T	ALMS1	NM_001378454.1(ALMS1):c.4210G>T:p.Glu1404Ter	coding	Pathogenic
2	73450798	T	A	T73450798A	ALMS1	NM_001378454.1(ALMS1):c.4271T>A:p.Leu1424Ter	coding	Pathogenic
2	73451098	C	G	C73451098G	ALMS1	NM_001378454.1(ALMS1):c.4571C>G:p.Ser1524Ter	coding	Pathogenic
2	73451242	C	G	C73451242G	ALMS1	NM_001378454.1(ALMS1):c.4715C>G:p.Ser1572Ter	coding	Pathogenic
2	73451270	C	G	C73451270G	ALMS1	NM_001378454.1(ALMS1):c.4743C>G:p.Tyr1581Ter	coding	Pathogenic/Likely_pathogenic
2	73451415	C	T	C73451415T	ALMS1	NM_001378454.1(ALMS1):c.4888C>T:p.Gln1630Ter	coding	Pathogenic
2	73451834	C	A	C73451834A	ALMS1	NM_001378454.1(ALMS1):c.5307C>A:p.Tyr1769Ter	coding	Pathogenic
2	73451845	T	A	T73451845A	ALMS1	NM_001378454.1(ALMS1):c.5318T>A:p.Leu1773Ter	coding	Pathogenic
2	73451979	C	T	C73451979T	ALMS1	NM_001378454.1(ALMS1):c.5452C>T:p.Arg1818Ter	coding	Pathogenic/Likely_pathogenic
2	73452217	C	G	C73452217G	ALMS1	NM_001378454.1(ALMS1):c.5690C>G:p.Ser1897Ter	coding	Pathogenic
2	73452493	C	A	C73452493A	ALMS1	NM_001378454.1(ALMS1):c.5966C>A:p.Ser1989Ter	coding	Pathogenic/Likely_pathogenic
2	73452994	T	A	T73452994A	ALMS1	NM_001378454.1(ALMS1):c.6467T>A:p.Leu2156Ter	coding	Pathogenic
2	73453353	C	T	C73453353T	ALMS1	NM_001378454.1(ALMS1):c.6826C>T:p.Arg2276Ter	coding	Pathogenic
2	73453358	C	A	C73453358A	ALMS1	NM_001378454.1(ALMS1):c.6831C>A:p.Cys2277Ter	coding	Pathogenic
2	73453413	C	T	C73453413T	ALMS1	NM_001378454.1(ALMS1):c.6886C>T:p.Gln2296Ter	coding	Pathogenic
2	73453932	G	T	G73453932T	ALMS1	NM_001378454.1(ALMS1):c.7405G>T:p.Glu2469Ter	coding	Pathogenic
2	73453977	A	T	A73453977T	ALMS1	NM_001378454.1(ALMS1):c.7450A>T:p.Lys2484Ter	coding	Pathogenic
2	73455210	C	G	C73455210G	ALMS1	NM_001378454.1(ALMS1):c.7589C>G:p.Ser2530Ter	coding	Pathogenic
2	73455293	A	T	A73455293T	ALMS1	NM_001378454.1(ALMS1):c.7672A>T:p.Lys2558Ter	coding	Pathogenic
2	73490003	G	T	G73490003T	ALMS1	NM_001378454.1(ALMS1):c.8044G>T:p.Glu2682Ter	coding	Pathogenic
2	73490233	A	G	A73490233G	ALMS1	NM_001378454.1(ALMS1):c.8274A>G:p.Gln2758=	coding	Benign/Likely_benign
2	73490403	C	G	C73490403G	ALMS1	NM_001378454.1(ALMS1):c.8444C>G:p.Ser2815Ter	coding	Pathogenic
2	73490446	T	C	T73490446C	ALMS1	NM_001378454.1(ALMS1):c.8487T>C:p.Asn2829=	coding	Benign/Likely_benign
2	73490612	C	T	C73490612T	ALMS1	NM_001378454.1(ALMS1):c.8653C>T:p.Arg2885Ter	coding	Pathogenic
2	73490684	C	T	C73490684T	ALMS1	NM_001378454.1(ALMS1):c.8725C>T:p.Gln2909Ter	coding	Pathogenic
2	73490901	A	G	A73490901G	ALMS1	NM_001378454.1(ALMS1):c.8942A>G:p.Asn2981Ser	coding	Benign
2	73490924	C	T	C73490924T	ALMS1	NM_001378454.1(ALMS1):c.8965C>T:p.Gln2989Ter	coding	Pathogenic
2	73490939	G	A	G73490939A	ALMS1	NM_001378454.1(ALMS1):c.8980G>A:p.Val2994Ile	coding	Benign/Likely_benign
2	73490957	C	T	C73490957T	ALMS1	NM_001378454.1(ALMS1):c.8998C>T:p.Gln3000Ter	coding	Pathogenic
2	73491284	C	T	C73491284T	ALMS1	NM_001378454.1(ALMS1):c.9325C>T:p.Gln3109Ter	coding	Pathogenic
2	73491311	G	T	G73491311T	ALMS1	NM_001378454.1(ALMS1):c.9352G>T:p.Gly3118Ter	coding	Pathogenic
2	73491344	C	T	C73491344T	ALMS1	NM_001378454.1(ALMS1):c.9385C>T:p.Gln3129Ter	coding	Pathogenic
2	73491401	C	T	C73491401T	ALMS1	NM_001378454.1(ALMS1):c.9442C>T:p.Gln3148Ter	coding	Pathogenic
2	73519470	C	G	C73519470G	ALMS1	NM_001378454.1(ALMS1):c.9540-305C>G	noncoding	Benign
2	73519541	A	T	A73519541T	ALMS1	NM_001378454.1(ALMS1):c.9540-234A>T	noncoding	Benign
2	73519842	C	T	C73519842T	ALMS1	NM_001378454.1(ALMS1):c.9607C>T:p.Gln3203Ter	coding	Pathogenic
2	73519989	C	T	C73519989T	ALMS1	NM_001378454.1(ALMS1):c.9754C>T:p.Gln3252Ter	coding	Pathogenic
2	73534846	T	A	T73534846A	ALMS1	NM_001378454.1(ALMS1):c.9804T>A:p.Tyr3268Ter	coding	Pathogenic/Likely_pathogenic
2	73534864	C	G	C73534864G	ALMS1	NM_001378454.1(ALMS1):c.9822C>G:p.Thr3274=	coding	Benign/Likely_benign
2	73534876	T	A	T73534876A	ALMS1	NM_001378454.1(ALMS1):c.9834T>A:p.Tyr3278Ter	coding	Pathogenic
2	73534947	C	G	C73534947G	ALMS1	NM_001378454.1(ALMS1):c.9905C>G:p.Ser3302Ter	coding	Pathogenic
2	73550046	A	G	A73550046G	ALMS1	NM_001378454.1(ALMS1):c.9908-221A>G	noncoding	Benign
2	73557366	G	A	G73557366A	ALMS1	NM_001378454.1(ALMS1):c.10213+12G>A	noncoding	Benign/Likely_benign
2	73572260	A	G	A73572260G	ALMS1	NM_001378454.1(ALMS1):c.10385-2A>G	noncoding	Pathogenic
2	73572627	C	T	C73572627T	ALMS1	NM_001378454.1(ALMS1):c.10750C>T:p.Gln3584Ter	coding	Pathogenic
2	73572708	C	T	C73572708T	ALMS1	NM_001378454.1(ALMS1):c.10831C>T:p.Gln3611Ter	coding	Pathogenic
2	73572711	C	T	C73572711T	ALMS1	NM_001378454.1(ALMS1):c.10834C>T:p.Gln3612Ter	coding	Pathogenic
2	73572810	C	T	C73572810T	ALMS1	NM_001378454.1(ALMS1):c.10933C>T:p.Gln3645Ter	coding	Pathogenic/Likely_pathogenic
2	73599403	A	G	A73599403G	ALMS1	NM_001378454.1(ALMS1):c.11550A>G:p.Val3850=	coding	Benign/Likely_benign
2	73599522	G	A	G73599522A	ALMS1	NM_001378454.1(ALMS1):c.11668+1G>A	coding	Pathogenic
2	73599522	G	T	G73599522T	ALMS1	NM_001378454.1(ALMS1):c.11668+1G>T	coding	Pathogenic/Likely_pathogenic
2	73600677	G	C	G73600677C	ALMS1	NM_001378454.1(ALMS1):c.11669-1G>C	noncoding	Pathogenic
2	73600716	C	T	C73600716T	ALMS1	NM_001378454.1(ALMS1):c.11707C>T:p.Arg3903Ter	coding	Pathogenic
2	73600781	T	C	T73600781C	ALMS1	NM_001378454.1(ALMS1):c.11772T>C:p.Asp3924=	coding	Benign/Likely_benign
2	73601194	G	C	G73601194C	ALMS1	NM_001378454.1(ALMS1):c.11873-1G>C	noncoding	Pathogenic
2	73601204	G	A	G73601204A	ALMS1	NM_001378454.1(ALMS1):c.11882G>A:p.Trp3961Ter	coding	Pathogenic
2	73602168	T	C	T73602168C	ALMS1	NM_001378454.1(ALMS1):c.12115-17T>C	noncoding	Benign
2	73602184	G	T	G73602184T	ALMS1	NM_001378454.1(ALMS1):c.12115-1G>T	noncoding	Pathogenic/Likely_pathogenic
2	73602194	C	T	C73602194T	ALMS1	NM_001378454.1(ALMS1):c.12124C>T:p.Gln4042Ter	coding	Pathogenic
2	73608457	A	C	A73608457C	ALMS1	NM_001378454.1(ALMS1):c.12363-18A>C	noncoding	Benign/Likely_benign
2	73729997	A	G	A73729997G	TPRKB	NM_016058.5(TPRKB):c.474T>C:p.Ile158=	coding	Benign
2	73730100	T	A	T73730100A	TPRKB	NM_016058.5(TPRKB):c.442-71A>T	noncoding	Benign
2	73830868	T	C	T73830868C	STAMBP	NM_213622.4(STAMBP):c.12T>C:p.His4=	coding	Benign
2	73845224	C	T	C73845224T	STAMBP	NM_213622.4(STAMBP):c.337C>T:p.Arg113Ter	coding	Pathogenic
2	73849142	C	T	C73849142T	STAMBP	NM_213622.4(STAMBP):c.743-221C>T	noncoding	Benign
2	73849789	A	T	A73849789T	STAMBP	NM_213622.4(STAMBP):c.867+302A>T	noncoding	Benign
2	73850429	G	T	G73850429T	STAMBP	NM_213622.4(STAMBP):c.921G>T:p.Gly307=	coding	Benign
2	73850628	C	G	C73850628G	STAMBP	NM_213622.4(STAMBP):c.1005+115C>G	noncoding	Benign
2	73851001	T	A	T73851001A	STAMBP	NM_213622.4(STAMBP):c.1005+488T>A	noncoding	Benign
2	73859423	T	G	T73859423G	STAMBP	NM_213622.4(STAMBP):c.1118+57T>G	noncoding	Benign
2	73859532	T	A	T73859532A	STAMBP	NM_213622.4(STAMBP):c.1118+166T>A	noncoding	Benign
2	73859560	C	A	C73859560A	STAMBP	NM_213622.4(STAMBP):c.1118+194C>A	noncoding	Benign
2	73860163	T	C	T73860163C	STAMBP	NM_213622.4(STAMBP):c.1218+12T>C	noncoding	Benign
2	73860171	A	G	A73860171G	STAMBP	NM_213622.4(STAMBP):c.1218+20A>G	noncoding	Benign
2	73860202	A	G	A73860202G	STAMBP	NM_213622.4(STAMBP):c.1218+51A>G	noncoding	Benign
2	73860247	G	A	G73860247A	STAMBP	NM_213622.4(STAMBP):c.1218+96G>A	noncoding	Benign
2	73860378	G	A	G73860378A	STAMBP	NM_213622.4(STAMBP):c.1218+227G>A	noncoding	Benign
2	73861901	A	G	A73861901G	STAMBP	NM_213622.4(STAMBP):c.1219-302A>G	noncoding	Benign
2	73901264	G	C	G73901264C	ACTG2	NM_001615.4(ACTG2):c.-36-12G>C	noncoding	Benign
2	73901306	C	T	C73901306T	ACTG2	NM_001615.4(ACTG2):c.-6C>T	noncoding	Benign
2	73908670	T	C	T73908670C	ACTG2	NM_001615.4(ACTG2):c.256-3T>C	noncoding	Benign
2	73909131	G	T	G73909131T	ACTG2	NM_001615.4(ACTG2):c.443G>T:p.Arg148Leu	coding	Pathogenic/Likely_pathogenic
2	73926778	C	T	C73926778T	DGUOK	Single_allele	noncoding	Benign
2	73939002	C	T	C73939002T	DGUOK	NM_080916.3(DGUOK):c.235C>T:p.Gln79Ter	coding	Pathogenic
2	73947018	A	G	A73947018G	DGUOK	NM_080916.3(DGUOK):c.443+112A>G	noncoding	Benign
2	73950232	A	G	A73950232G	DGUOK	NM_080916.3(DGUOK):c.444-353A>G	noncoding	Benign
2	73950415	G	A	G73950415A	DGUOK	NM_080916.3(DGUOK):c.444-170G>A	noncoding	Benign
2	74003213	G	A	G74003213A	TET3	NM_001287491.2(TET3):c.360+47G>A	noncoding	Benign
2	74047202	C	T	C74047202T	TET3	NM_001287491.2(TET3):c.1285C>T:p.Pro429Ser	coding	Benign
2	74047288	C	T	C74047288T	TET3	NM_001287491.2(TET3):c.1371C>T:p.Pro457=	coding	Benign
2	74073590	T	C	T74073590C	TET3	NM_001287491.2(TET3):c.2536T>C:p.Leu846=	coding	Benign
2	74101312	G	C	G74101312C	TET3	NM_001287491.2(TET3):c.4524G>C:p.Leu1508=	coding	Benign
2	74142354	C	T	C74142354T	BOLA3	NM_212552.3(BOLA3):c.176G>A:p.Cys59Tyr	coding	Pathogenic/Likely_pathogenic
2	74145088	C	T	C74145088T	BOLA3	NM_212552.3(BOLA3):c.169+101G>A	noncoding	Benign
2	74147757	G	A	G74147757A	BOLA3	NM_212552.3(BOLA3):c.54+64C>T	noncoding	Benign
2	74147775	C	T	C74147775T	BOLA3	NM_212552.3(BOLA3):c.54+46G>A	noncoding	Benign
2	74147809	G	C	G74147809C	BOLA3	NM_212552.3(BOLA3):c.54+12C>G	noncoding	Benign/Likely_benign
2	74233777	A	G	A74233777G	SLC4A5	NM_133478.3(SLC4A5):c.2434-214T>C	noncoding	Benign
2	74361892	A	G	A74361892G	DCTN1	NM_004082.5(DCTN1):c.3699+160T>C	noncoding	Benign
2	74362203	C	A	C74362203A	DCTN1	NM_004082.5(DCTN1):c.3610-62G>T	noncoding	Benign
2	74362206	C	T	C74362206T	DCTN1	NM_004082.5(DCTN1):c.3610-65G>A	noncoding	Benign
2	74362233	G	A	G74362233A	DCTN1	NM_004082.5(DCTN1):c.3610-92C>T	noncoding	Benign
2	74362406	G	T	G74362406T	DCTN1	NM_004082.5(DCTN1):c.3609+244C>A	noncoding	Benign
2	74362770	G	T	G74362770T	DCTN1	NM_004082.5(DCTN1):c.3530-41C>A	noncoding	Benign
2	74362857	A	G	A74362857G	DCTN1	NM_004082.5(DCTN1):c.3530-128T>C	noncoding	Benign
2	74363022	G	A	G74363022A	DCTN1	NM_004082.5(DCTN1):c.3501C>T:p.His1167=	coding	Benign/Likely_benign
2	74365810	T	C	T74365810C	DCTN1	NM_004082.5(DCTN1):c.2886+83A>G	noncoding	Benign
2	74366036	G	A	G74366036A	DCTN1	NM_004082.5(DCTN1):c.2761-18C>T	noncoding	Benign
2	74366037	G	C	G74366037C	DCTN1	NM_004082.5(DCTN1):c.2761-19C>G	noncoding	Benign
2	74366379	C	T	C74366379T	DCTN1	NM_004082.5(DCTN1):c.2629-4G>A	coding	Benign
2	74368589	G	A	G74368589A	DCTN1	NM_004082.5(DCTN1):c.1854+139C>T	noncoding	Benign
2	74368708	A	T	A74368708T	DCTN1	NM_004082.5(DCTN1):c.1854+20T>A	noncoding	Benign
2	74369513	T	G	T74369513G	DCTN1	NM_004082.5(DCTN1):c.1393-22A>C	noncoding	Benign
2	74369526	G	A	G74369526A	DCTN1	NM_004082.5(DCTN1):c.1393-35C>T	noncoding	Benign
2	74370400	G	A	G74370400A	DCTN1	NM_004082.5(DCTN1):c.1128-55C>T	noncoding	Benign
2	74370857	C	A	C74370857A	DCTN1	NM_004082.5(DCTN1):c.844-32G>T	noncoding	Benign
2	74371855	A	G	A74371855G	DCTN1	NM_004082.5(DCTN1):c.454-127T>C	noncoding	Benign
2	74373174	T	C	T74373174C	DCTN1	NM_004082.5(DCTN1):c.433-226A>G	noncoding	Benign
2	74373207	C	T	C74373207T	DCTN1	NM_004082.5(DCTN1):c.433-259G>A	noncoding	Benign
2	74375015	T	C	T74375015C	DCTN1	NM_004082.5(DCTN1):c.415-675A>G	noncoding	Benign
2	74377329	A	C	A74377329C	DCTN1	NM_004082.5(DCTN1):c.393+103T>G	noncoding	Benign
2	74377546	C	T	C74377546T	DCTN1	NM_004082.5(DCTN1):c.359-80G>A	noncoding	Benign
2	74377729	G	A	G74377729A	DCTN1	NM_004082.5(DCTN1):c.280-3C>T	noncoding	Benign/Likely_benign
2	74377760	T	A	T74377760A	DCTN1	NM_004082.5(DCTN1):c.280-34A>T	noncoding	Benign
2	74380390	A	G	A74380390G	DCTN1	NM_001190836.2(DCTN1):c.-18-2145T>C	noncoding	Benign
2	74462404	C	T	C74462404T	MOGS	NM_006302.3(MOGS):c.1385G>A:p.Trp462Ter	coding	Pathogenic
2	74462631	G	T	G74462631T	MOGS	NM_006302.3(MOGS):c.1158C>A:p.Gly386=	coding	Benign
2	74464961	C	T	C74464961T	MOGS	NM_006302.3(MOGS):c.287G>A:p.Trp96Ter	coding	Pathogenic
2	74465520	T	C	T74465520C	MOGS	Single_allele	noncoding	Benign
2	74529115	G	A	G74529115A	HTRA2	NM_181575.5(AUP1):c.339+17C>T	coding	Benign
2	74530250	C	T	C74530250T	HTRA2	NM_013247.5(HTRA2):c.244C>T:p.Gln82Ter	coding	Pathogenic
2	74530562	G	A	G74530562A	HTRA2	NM_013247.5(HTRA2):c.506+50G>A	noncoding	Benign
2	74531181	A	G	A74531181G	HTRA2	NM_013247.5(HTRA2):c.906+76A>G	noncoding	Benign
2	74532596	T	C	T74532596C	HTRA2	NM_013247.5(HTRA2):c.1116-23T>C	coding	Benign
2	74532641	C	T	C74532641T	HTRA2	NM_013247.5(HTRA2):c.1138C>T:p.Arg380Ter	coding	Pathogenic
2	74534112	G	A	G74534112A	LOXL3	NM_032603.5(LOXL3):c.2064C>T:p.Asn688=	coding	Benign
2	74534295	T	C	T74534295C	LOXL3	NM_032603.5(LOXL3):c.1939+21A>G	noncoding	Benign
2	74536121	G	A	G74536121A	LOXL3	NM_032603.5(LOXL3):c.1123C>T:p.Arg375Cys	coding	Benign
2	74536131	C	G	C74536131G	LOXL3	NM_032603.5(LOXL3):c.1113G>C:p.Leu371=	coding	Benign
2	74550257	C	T	C74550257T	LOXL3	NM_032603.5(LOXL3):c.405G>A:p.Thr135_His136=	coding	Benign
2	74552548	A	C	A74552548C	LOXL3	NM_032603.5(LOXL3):c.87T>G:p.Pro29_Ser30=	coding	Benign
2	79523156	A	G	A79523156G	CTNNA2	NM_001282597.3(CTNNA2):c.-6+9949A>G	noncoding	Benign
2	79523417	C	T	C79523417T	CTNNA2	NM_001282597.3(CTNNA2):c.-6+10210C>T	noncoding	Benign
2	79523465	G	T	G79523465T	CTNNA2	NM_001282597.3(CTNNA2):c.-6+10258G>T	noncoding	Benign
2	79651538	A	G	A79651538G	CTNNA2	NM_001282597.3(CTNNA2):c.-5-14A>G	noncoding	Benign
2	79651796	T	A	T79651796A	CTNNA2	NM_001282597.3(CTNNA2):c.102+138T>A	noncoding	Benign
2	79744351	G	A	G79744351A	CTNNA2	NM_001282597.3(CTNNA2):c.103-36G>A	noncoding	Benign
2	79744386	G	A	G79744386A	CTNNA2	NM_001282597.3(CTNNA2):c.103-1G>A	noncoding	Pathogenic
2	79870079	C	T	C79870079T	CTNNA2	NM_001282597.3(CTNNA2):c.585+144C>T	noncoding	Benign
2	79870153	T	C	T79870153C	CTNNA2	NM_001282597.3(CTNNA2):c.585+218T>C	noncoding	Benign
2	79873914	A	G	A79873914G	CTNNA2	NM_001282597.3(CTNNA2):c.586-162A>G	noncoding	Benign
2	79874195	T	G	T79874195G	CTNNA2	NM_001282597.3(CTNNA2):c.705T>G:p.Ala235=	coding	Benign
2	79874246	C	T	C79874246T	CTNNA2	NM_001282597.3(CTNNA2):c.756C>T:p.Ala252=	coding	Benign
2	79874385	T	C	T79874385C	CTNNA2	NM_001282597.3(CTNNA2):c.852+43T>C	noncoding	Benign
2	79909405	A	C	A79909405C	CTNNA2	NM_001282597.3(CTNNA2):c.853-189A>C	noncoding	Benign
2	79909513	T	C	T79909513C	CTNNA2	NM_001282597.3(CTNNA2):c.853-81T>C	noncoding	Benign
2	79909530	C	G	C79909530G	CTNNA2	NM_001282597.3(CTNNA2):c.853-64C>G	noncoding	Benign
2	80313337	T	C	T80313337C	CTNNA2	NM_001282597.3(CTNNA2):c.1057-79874T>C	noncoding	Benign
2	80313405	G	C	G80313405C	CTNNA2	NM_001282597.3(CTNNA2):c.1057-79806G>C	coding	Benign
2	80313475	C	T	C80313475T	CTNNA2	NM_001282597.3(CTNNA2):c.1057-79736C>T	coding	Benign
2	80393082	T	C	T80393082C	CTNNA2	NM_001282597.3(CTNNA2):c.1057-129T>C	noncoding	Benign
2	80393110	T	G	T80393110G	CTNNA2	NM_001282597.3(CTNNA2):c.1057-101T>G	noncoding	Benign
2	80393159	G	A	G80393159A	CTNNA2	NM_001282597.3(CTNNA2):c.1057-52G>A	noncoding	Benign
2	80393449	G	A	G80393449A	CTNNA2	NM_001282597.3(CTNNA2):c.1137+158G>A	noncoding	Benign
2	80419724	T	G	T80419724G	CTNNA2	NM_001282597.3(CTNNA2):c.1290+123T>G	noncoding	Benign
2	80545847	G	A	G80545847A	CTNNA2	NM_001282597.3(CTNNA2):c.1384-60G>A	noncoding	Benign
2	80555909	G	A	G80555909A	CTNNA2	NM_001282597.3(CTNNA2):c.1741+16G>A	noncoding	Benign
2	80574221	T	C	T80574221C	CTNNA2	NM_001282597.3(CTNNA2):c.1800T>C:p.Val600=	coding	Benign
2	80574399	T	C	T80574399C	CTNNA2	NM_001282597.3(CTNNA2):c.1893+85T>C	noncoding	Benign
2	80581902	C	G	C80581902G	CTNNA2	NM_001282597.3(CTNNA2):c.2007+83C>G	noncoding	Benign
2	80582054	C	T	C80582054T	CTNNA2	NM_001282597.3(CTNNA2):c.2007+235C>T	noncoding	Benign
2	80589638	C	G	C80589638G	CTNNA2	NM_001282597.3(CTNNA2):c.2189+153C>G	noncoding	Benign
2	80589675	A	G	A80589675G	CTNNA2	NM_001282597.3(CTNNA2):c.2189+190A>G	noncoding	Benign
2	80603884	A	G	A80603884G	CTNNA2	NM_001282597.3(CTNNA2):c.2190-190A>G	noncoding	Benign
2	80604356	G	A	G80604356A	CTNNA2	NM_001282597.3(CTNNA2):c.2295+177G>A	noncoding	Benign
2	80607989	T	G	T80607989G	CTNNA2	NM_001282597.3(CTNNA2):c.2296-195T>G	noncoding	Benign
2	84423980	G	A	G84423980A	SUCLG1	NM_003849.4(SUCLG1):c.1015-208C>T	noncoding	Benign
2	84425740	C	T	C84425740T	SUCLG1	NM_003849.4(SUCLG1):c.826-137G>A	noncoding	Benign
2	84431490	T	C	T84431490C	SUCLG1	NM_003849.4(SUCLG1):c.825+18A>G	noncoding	Benign/Likely_benign
2	84433382	G	A	G84433382A	SUCLG1	NM_003849.4(SUCLG1):c.643C>T:p.Gln215Ter	coding	Pathogenic
2	84433399	G	T	G84433399T	SUCLG1	NM_003849.4(SUCLG1):c.626C>A:p.Ala209Glu	coding	Pathogenic
2	84433624	T	G	T84433624G	SUCLG1	NM_003849.4(SUCLG1):c.590-189A>C	noncoding	Benign
2	84440864	G	A	G84440864A	SUCLG1	NM_003849.4(SUCLG1):c.589+183C>T	noncoding	Benign
2	84441196	T	A	T84441196A	SUCLG1	NM_003849.4(SUCLG1):c.531+51A>T	noncoding	Benign
2	84441318	G	A	G84441318A	SUCLG1	NM_003849.4(SUCLG1):c.460C>T:p.Arg154Ter	coding	Pathogenic
2	84441320	A	T	A84441320T	SUCLG1	NM_003849.4(SUCLG1):c.458T>A:p.Val153Glu	coding	Pathogenic
2	84441582	A	C	A84441582C	SUCLG1	NM_003849.4(SUCLG1):c.319-123T>G	noncoding	Benign
2	84443062	C	A	C84443062A	SUCLG1	NM_003849.4(SUCLG1):c.318+222G>T	noncoding	Benign
2	84449348	C	G	C84449348G	SUCLG1	NM_003849.4(SUCLG1):c.201+301G>C	noncoding	Benign
2	84449790	C	T	C84449790T	SUCLG1	NM_003849.4(SUCLG1):c.98-38G>A	noncoding	Benign
2	84459057	C	T	C84459057T	SUCLG1	NM_003849.4(SUCLG1):c.97+116G>A	noncoding	Benign
2	84525506	A	C	A84525506C	DNAH6	NM_001370.2(DNAH6):c.226-59A>C	noncoding	Benign
2	84529217	T	G	T84529217G	DNAH6	NM_001370.2(DNAH6):c.662+51T>G	noncoding	Benign
2	84529326	C	A	C84529326A	DNAH6	NM_001370.2(DNAH6):c.662+160C>A	noncoding	Benign
2	84544013	T	C	T84544013C	DNAH6	NM_001370.2(DNAH6):c.663-220T>C	noncoding	Benign
2	84547711	A	G	A84547711G	DNAH6	NM_001370.2(DNAH6):c.1186+99A>G	noncoding	Benign
2	84547769	G	A	G84547769A	DNAH6	NM_001370.2(DNAH6):c.1186+157G>A	noncoding	Benign
2	84548549	A	T	A84548549T	DNAH6	NM_001370.2(DNAH6):c.1316+132A>T	noncoding	Benign
2	84550223	T	C	T84550223C	DNAH6	NM_001370.2(DNAH6):c.1485+166T>C	noncoding	Benign
2	84573774	T	C	T84573774C	DNAH6	NM_001370.2(DNAH6):c.1924+187T>C	noncoding	Benign
2	84577424	A	G	A84577424G	DNAH6	NM_001370.2(DNAH6):c.2076+16A>G	noncoding	Benign
2	84579429	G	A	G84579429A	DNAH6	NM_001370.2(DNAH6):c.2077-98G>A	noncoding	Benign
2	84579818	C	G	C84579818G	DNAH6	NM_001370.2(DNAH6):c.2229+139C>G	noncoding	Benign
2	84584279	A	C	A84584279C	DNAH6	NM_001370.2(DNAH6):c.2481+29A>C	noncoding	Benign
2	84588624	G	A	G84588624A	DNAH6	NM_001370.2(DNAH6):c.2482-202G>A	noncoding	Benign
2	84589006	G	A	G84589006A	DNAH6	NM_001370.2(DNAH6):c.2610+52G>A	noncoding	Benign
2	84589054	G	A	G84589054A	DNAH6	NM_001370.2(DNAH6):c.2610+100G>A	noncoding	Benign
2	84589064	G	A	G84589064A	DNAH6	NM_001370.2(DNAH6):c.2610+110G>A	noncoding	Benign
2	84593865	A	G	A84593865G	DNAH6	NM_001370.2(DNAH6):c.2611-107A>G	noncoding	Benign
2	84595425	G	A	G84595425A	DNAH6	NM_001370.2(DNAH6):c.2725-221G>A	noncoding	Benign
2	84595502	T	C	T84595502C	DNAH6	NM_001370.2(DNAH6):c.2725-144T>C	noncoding	Benign
2	84595591	C	T	C84595591T	DNAH6	NM_001370.2(DNAH6):c.2725-55C>T	noncoding	Benign
2	84604141	T	G	T84604141G	DNAH6	NM_001370.2(DNAH6):c.2869-198T>G	noncoding	Benign
2	84604152	C	T	C84604152T	DNAH6	NM_001370.2(DNAH6):c.2869-187C>T	noncoding	Benign
2	84604643	G	A	G84604643A	DNAH6	NM_001370.2(DNAH6):c.3081+92G>A	noncoding	Benign
2	84605701	T	C	T84605701C	DNAH6	NM_001370.2(DNAH6):c.3174+109T>C	noncoding	Benign
2	84606760	G	T	G84606760T	DNAH6	NM_001370.2(DNAH6):c.3175-216G>T	noncoding	Benign
2	84606939	T	C	T84606939C	DNAH6	NM_001370.2(DNAH6):c.3175-37T>C	noncoding	Benign
2	84607113	T	C	T84607113C	DNAH6	NM_001370.2(DNAH6):c.3294+18T>C	noncoding	Benign
2	84607251	C	T	C84607251T	DNAH6	NM_001370.2(DNAH6):c.3294+156C>T	noncoding	Benign
2	84607272	T	A	T84607272A	DNAH6	NM_001370.2(DNAH6):c.3294+177T>A	noncoding	Benign
2	84607280	T	C	T84607280C	DNAH6	NM_001370.2(DNAH6):c.3294+185T>C	noncoding	Benign
2	84619552	C	T	C84619552T	DNAH6	NM_001370.2(DNAH6):c.3573-133C>T	noncoding	Benign
2	84619559	A	G	A84619559G	DNAH6	NM_001370.2(DNAH6):c.3573-126A>G	noncoding	Benign
2	84619806	A	G	A84619806G	DNAH6	NM_001370.2(DNAH6):c.3694A>G:p.Met1232Val	coding	Benign
2	84621472	G	A	G84621472A	DNAH6	NM_001370.2(DNAH6):c.3992G>A:p.Arg1331His	coding	Benign
2	84624249	T	C	T84624249C	DNAH6	NM_001370.2(DNAH6):c.4072-16T>C	noncoding	Benign
2	84624639	G	A	G84624639A	DNAH6	NM_001370.2(DNAH6):c.4353+19G>A	noncoding	Benign
2	84624831	T	C	T84624831C	DNAH6	NM_001370.2(DNAH6):c.4354-71T>C	noncoding	Benign
2	84625104	T	A	T84625104A	DNAH6	NM_001370.2(DNAH6):c.4515+41T>A	noncoding	Benign
2	84634295	A	G	A84634295G	DNAH6	NM_001370.2(DNAH6):c.4516-209A>G	noncoding	Benign
2	84634828	C	T	C84634828T	DNAH6	NM_001370.2(DNAH6):c.4653+187C>T	noncoding	Benign
2	84637031	C	G	C84637031G	DNAH6	NM_001370.2(DNAH6):c.4654-179C>G	noncoding	Benign
2	84637082	C	G	C84637082G	DNAH6	NM_001370.2(DNAH6):c.4654-128C>G	noncoding	Benign
2	84637139	C	T	C84637139T	DNAH6	NM_001370.2(DNAH6):c.4654-71C>T	noncoding	Benign
2	84640758	G	A	G84640758A	DNAH6	NM_001370.2(DNAH6):c.4970+180G>A	noncoding	Benign
2	84640797	C	T	C84640797T	DNAH6	NM_001370.2(DNAH6):c.4970+219C>T	noncoding	Benign
2	84641784	A	C	A84641784C	DNAH6	NM_001370.2(DNAH6):c.4971-163A>C	noncoding	Benign
2	84653571	G	A	G84653571A	DNAH6	NM_001370.2(DNAH6):c.5331G>A:p.Gly1777=	coding	Benign
2	84654978	T	A	T84654978A	DNAH6	NM_001370.2(DNAH6):c.5757+196T>A	noncoding	Benign
2	84658205	G	A	G84658205A	DNAH6	NM_001370.2(DNAH6):c.5758-87G>A	noncoding	Benign
2	84658491	T	C	T84658491C	DNAH6	NM_001370.2(DNAH6):c.5940+17T>C	noncoding	Benign
2	84669504	G	A	G84669504A	DNAH6	NM_001370.2(DNAH6):c.6300G>A:p.Val2100=	coding	Benign
2	84670237	T	A	T84670237A	DNAH6	NM_001370.2(DNAH6):c.6307-91T>A	noncoding	Benign
2	84672124	T	C	T84672124C	DNAH6	NM_001370.2(DNAH6):c.6455-203T>C	noncoding	Benign
2	84672236	G	A	G84672236A	DNAH6	NM_001370.2(DNAH6):c.6455-91G>A	noncoding	Benign
2	84672514	G	A	G84672514A	DNAH6	NM_001370.2(DNAH6):c.6612+30G>A	noncoding	Benign
2	84672637	C	G	C84672637G	DNAH6	NM_001370.2(DNAH6):c.6612+153C>G	noncoding	Benign
2	84681415	G	A	G84681415A	DNAH6	NM_001370.2(DNAH6):c.6803G>A:p.Ser2268Asn	coding	Benign
2	84681687	C	T	C84681687T	DNAH6	NM_001370.2(DNAH6):c.6916+159C>T	noncoding	Benign
2	84685561	T	C	T84685561C	DNAH6	NM_001370.2(DNAH6):c.7063+89T>C	noncoding	Benign
2	84686331	C	T	C84686331T	DNAH6	NM_001370.2(DNAH6):c.7064-153C>T	noncoding	Benign
2	84686359	A	C	A84686359C	DNAH6	NM_001370.2(DNAH6):c.7064-125A>C	noncoding	Benign
2	84686464	T	G	T84686464G	DNAH6	NM_001370.2(DNAH6):c.7064-20T>G	noncoding	Benign
2	84688345	A	T	A84688345T	DNAH6	NM_001370.2(DNAH6):c.7138-94A>T	noncoding	Benign
2	84694049	G	C	G84694049C	DNAH6	NM_001370.2(DNAH6):c.7293-200G>C	noncoding	Benign
2	84697495	G	A	G84697495A	DNAH6	NM_001370.2(DNAH6):c.7525-80G>A	noncoding	Benign
2	84697770	G	A	G84697770A	DNAH6	NM_001370.2(DNAH6):c.7677+43G>A	noncoding	Benign
2	84699360	C	T	C84699360T	DNAH6	NM_001370.2(DNAH6):c.7678-234C>T	noncoding	Benign
2	84700867	C	T	C84700867T	DNAH6	NM_001370.2(DNAH6):c.7819-230C>T	noncoding	Benign
2	84705596	A	G	A84705596G	DNAH6	NM_001370.2(DNAH6):c.8576A>G:p.Lys2859Arg	coding	Benign
2	84705970	T	A	T84705970A	DNAH6	NM_001370.2(DNAH6):c.8727+223T>A	noncoding	Benign
2	84713274	T	C	T84713274C	DNAH6	NM_001370.2(DNAH6):c.9543+15T>C	noncoding	Benign
2	84713353	T	C	T84713353C	DNAH6	NM_001370.2(DNAH6):c.9543+94T>C	noncoding	Benign
2	84715704	A	G	A84715704G	DNAH6	NM_001370.2(DNAH6):c.9611+77A>G	noncoding	Benign
2	84718490	A	C	A84718490C	DNAH6	NM_001370.2(DNAH6):c.9792+106A>C	noncoding	Benign
2	84718555	C	T	C84718555T	DNAH6	NM_001370.2(DNAH6):c.9792+171C>T	noncoding	Benign
2	84722468	G	A	G84722468A	DNAH6	NM_001370.2(DNAH6):c.9793-157G>A	noncoding	Benign
2	84722882	T	C	T84722882C	DNAH6	NM_001370.2(DNAH6):c.9972+78T>C	noncoding	Benign
2	84744923	G	C	G84744923C	DNAH6	NM_001370.2(DNAH6):c.10343-157G>C	noncoding	Benign
2	84745367	C	T	C84745367T	DNAH6	NM_001370.2(DNAH6):c.10512+118C>T	noncoding	Benign
2	84762572	T	A	T84762572A	DNAH6	NM_001370.2(DNAH6):c.10513-183T>A	noncoding	Benign
2	84781307	A	G	A84781307G	DNAH6	NM_001370.2(DNAH6):c.10704-186A>G	noncoding	Benign
2	84784652	G	T	G84784652T	DNAH6	NM_001370.2(DNAH6):c.10865-70G>T	noncoding	Benign
2	84787336	A	G	A84787336G	DNAH6	NM_001370.2(DNAH6):c.11239+34A>G	noncoding	Benign
2	84796529	G	C	G84796529C	DNAH6	NM_001370.2(DNAH6):c.11359+104G>C	noncoding	Benign
2	84805908	A	G	A84805908G	DNAH6	NM_001370.2(DNAH6):c.11611+114A>G	noncoding	Benign
2	84812439	C	T	C84812439T	DNAH6	NM_001370.2(DNAH6):c.11838C>T:p.Pro3946=	coding	Benign
2	84813269	G	C	G84813269C	DNAH6	NM_001370.2(DNAH6):c.11998+139G>C	noncoding	Benign
2	84813281	A	G	A84813281G	DNAH6	NM_001370.2(DNAH6):c.11998+151A>G	noncoding	Benign
2	84813294	A	G	A84813294G	DNAH6	NM_001370.2(DNAH6):c.11998+164A>G	noncoding	Benign
2	84814144	T	C	T84814144C	DNAH6	NM_001370.2(DNAH6):c.12150+22T>C	noncoding	Benign
2	84814171	T	C	T84814171C	DNAH6	NM_001370.2(DNAH6):c.12150+49T>C	noncoding	Benign
2	84814192	T	C	T84814192C	DNAH6	NM_001370.2(DNAH6):c.12150+70T>C	noncoding	Benign
2	84814283	A	G	A84814283G	DNAH6	NM_001370.2(DNAH6):c.12150+161A>G	noncoding	Benign
2	84816229	G	A	G84816229A	DNAH6	NM_001370.2(DNAH6):c.12373+146G>A	noncoding	Benign
2	84819351	G	A	G84819351A	DNAH6	NM_001370.2(DNAH6):c.12420G>A:p.Arg4140=	coding	Benign
2	85283277	A	G	A85283277G	TCF7L1	NM_031283.3(TCF7L1):c.442-218A>G	noncoding	Benign
2	85283302	G	A	G85283302A	TCF7L1	NM_031283.3(TCF7L1):c.442-193G>A	noncoding	Benign
2	85283654	A	G	A85283654G	TCF7L1	NM_031283.3(TCF7L1):c.525+76A>G	noncoding	Benign
2	85283842	A	G	A85283842G	TCF7L1	NM_031283.3(TCF7L1):c.525+264A>G	noncoding	Benign
2	85302858	A	G	A85302858G	TCF7L1	NM_031283.3(TCF7L1):c.658+242A>G	noncoding	Benign
2	85302942	T	C	T85302942C	TCF7L1	NM_031283.3(TCF7L1):c.658+326T>C	noncoding	Benign
2	85304456	C	A	C85304456A	TCF7L1	NM_031283.3(TCF7L1):c.845+118C>A	noncoding	Benign
2	85305082	C	G	C85305082G	TCF7L1	NM_031283.3(TCF7L1):c.846-178C>G	noncoding	Benign
2	85362912	C	T	C85362912T	ELMOD3	NM_001135022.2(ELMOD3):c.130-185C>T	noncoding	Benign
2	85363084	G	A	G85363084A	ELMOD3	NM_001135022.2(ELMOD3):c.130-13G>A	noncoding	Benign
2	85368654	T	C	T85368654C	ELMOD3	NM_001135022.2(ELMOD3):c.200-32T>C	noncoding	Benign
2	85368798	G	C	G85368798C	ELMOD3	NM_001135022.2(ELMOD3):c.268+44G>C	noncoding	Benign
2	85368807	C	T	C85368807T	ELMOD3	NM_001135022.2(ELMOD3):c.268+53C>T	noncoding	Benign
2	85368920	G	A	G85368920A	ELMOD3	NM_001135022.2(ELMOD3):c.268+166G>A	noncoding	Benign
2	85369616	A	G	A85369616G	ELMOD3	NM_001135022.2(ELMOD3):c.269-123A>G	noncoding	Benign
2	85369726	C	T	C85369726T	ELMOD3	NM_001135022.2(ELMOD3):c.269-13C>T	noncoding	Benign/Likely_benign
2	85369730	T	C	T85369730C	ELMOD3	NM_001135022.2(ELMOD3):c.269-9T>C	noncoding	Benign/Likely_benign
2	85370024	C	T	C85370024T	ELMOD3	NM_001135022.2(ELMOD3):c.360+194C>T	noncoding	Benign
2	85370933	T	C	T85370933C	ELMOD3	NM_001135022.2(ELMOD3):c.361-153T>C	noncoding	Benign
2	85371122	G	A	G85371122A	ELMOD3	NM_001135022.2(ELMOD3):c.397G>A:p.Ala133Thr	coding	Benign
2	85371320	G	A	G85371320A	ELMOD3	NM_001135022.2(ELMOD3):c.484+111G>A	noncoding	Benign
2	85371760	G	A	G85371760A	ELMOD3	NM_001135022.2(ELMOD3):c.607+198G>A	noncoding	Benign
2	85389635	T	C	T85389635C	ELMOD3	NM_001135022.2(ELMOD3):c.739-116T>C	noncoding	Benign
2	85389839	A	G	A85389839G	ELMOD3	NM_001135022.2(ELMOD3):c.815+12A>G	noncoding	Benign
2	85389935	C	T	C85389935T	ELMOD3	NM_001135022.2(ELMOD3):c.815+108C>T	noncoding	Benign
2	85390548	T	C	T85390548C	ELMOD3	NM_001135022.2(ELMOD3):c.944-212T>C	coding	Benign
2	85390790	G	T	G85390790T	ELMOD3	NM_001135022.2(ELMOD3):c.974G>T:p.Arg325Leu	coding	Benign
2	85391021	G	T	G85391021T	ELMOD3	NM_001135022.2(ELMOD3):c.*59G>T	noncoding	Benign
2	85391048	G	A	G85391048A	ELMOD3	NM_001135022.2(ELMOD3):c.*86G>A	noncoding	Benign
2	85391164	G	A	G85391164A	ELMOD3	NM_001135022.2(ELMOD3):c.*202G>A	noncoding	Benign
2	85541777	T	C	T85541777C	MAT2A	NM_005911.6(MAT2A):c.405+32T>C	noncoding	Benign
2	85542334	C	T	C85542334T	MAT2A	NM_005911.6(MAT2A):c.729C>T:p.His243=	coding	Benign/Likely_benign
2	85542882	G	A	G85542882A	MAT2A	NM_005911.6(MAT2A):c.952-19G>A	noncoding	Benign/Likely_benign
2	85550147	G	A	G85550147A	GGCX	NM_000821.7(GGCX):c.2085-21C>T	noncoding	Benign
2	85550449	A	C	A85550449C	GGCX	NM_000821.7(GGCX):c.2084+106T>G	noncoding	Benign
2	85550510	C	G	C85550510G	GGCX	NM_000821.7(GGCX):c.2084+45G>C	noncoding	Benign
2	85551812	C	A	C85551812A	GGCX	NM_000821.7(GGCX):c.1609G>T:p.Gly537Ter	coding	Pathogenic
2	85551883	C	T	C85551883T	GGCX	NM_000821.7(GGCX):c.1538G>A:p.Arg513Lys	coding	Pathogenic
2	85552549	G	A	G85552549A	GGCX	NM_000821.7(GGCX):c.1306C>T:p.Arg436Ter	coding	Pathogenic
2	85553182	G	A	G85553182A	GGCX	NM_000821.7(GGCX):c.1155+50C>T	noncoding	Benign
2	85553709	C	T	C85553709T	GGCX	NM_000821.7(GGCX):c.890-212G>A	noncoding	Benign
2	85555464	C	A	C85555464A	GGCX	NM_000821.7(GGCX):c.725+20G>T	noncoding	Benign/Likely_benign
2	85556005	T	G	T85556005G	GGCX	NM_000821.7(GGCX):c.618+177A>C	noncoding	Benign
2	85556177	T	C	T85556177C	GGCX	NM_000821.7(GGCX):c.618+5A>G	noncoding	Benign
2	85556251	G	A	G85556251A	GGCX	NM_000821.7(GGCX):c.549C>T:p.Asp183=	coding	Benign
2	85556264	C	T	C85556264T	GGCX	NM_000821.7(GGCX):c.540-4G>A	noncoding	Benign
2	85560840	G	A	G85560840A	GGCX	NM_000821.7(GGCX):c.189C>T:p.Ser63=	coding	Benign/Likely_benign
2	85560903	C	T	C85560903T	GGCX	NM_000821.7(GGCX):c.126G>A:p.Trp42Ter	coding	Pathogenic
2	85561017	C	T	C85561017T	GGCX	NM_000821.7(GGCX):c.44-32G>A	noncoding	Benign
2	85561052	T	A	T85561052A	GGCX	NM_000821.7(GGCX):c.44-67A>T	noncoding	Benign
2	85561147	C	A	C85561147A	GGCX	NM_000821.7(GGCX):c.44-162G>T	noncoding	Benign
2	85561414	G	A	G85561414A	GGCX	NM_000821.7(GGCX):c.15C>T:p.Ala5=	coding	Benign/Likely_benign
2	85561615	C	A	C85561615A	GGCX	Single_allele	noncoding	Benign
2	85581859	T	C	T85581859C	VAMP8	NM_003761.5(VAMP8):c.*143T>C	noncoding	Benign
2	85661170	A	G	A85661170G	SFTPB	NM_000542.5(SFTPB):c.*19+284T>C	noncoding	Benign
2	85662402	A	C	A85662402C	SFTPB	NM_000542.5(SFTPB):c.1003-293T>G	noncoding	Benign
2	85663025	C	A	C85663025A	SFTPB	NM_000542.5(SFTPB):c.1002+321G>T	noncoding	Benign
2	85663170	T	C	T85663170C	SFTPB	NM_000542.5(SFTPB):c.1002+176A>G	noncoding	Benign
2	85663465	G	A	G85663465A	SFTPB	NM_000542.5(SFTPB):c.883C>T:p.Arg295Ter	coding	Pathogenic
2	85663472	C	T	C85663472T	SFTPB	NM_000542.5(SFTPB):c.876G>A:p.Trp292Ter	coding	Pathogenic
2	85663630	A	G	A85663630G	SFTPB	NM_000542.5(SFTPB):c.856+34T>C	noncoding	Benign
2	85663635	T	C	T85663635C	SFTPB	NM_000542.5(SFTPB):c.856+29A>G	noncoding	Benign
2	85663766	G	A	G85663766A	SFTPB	NM_000542.5(SFTPB):c.754C>T:p.Arg252Cys	coding	Pathogenic
2	85664141	C	G	C85664141G	SFTPB	NM_000542.5(SFTPB):c.673-294G>C	noncoding	Benign
2	85665612	G	A	G85665612A	SFTPB	NM_000542.5(SFTPB):c.576C>T:p.His192=	coding	Benign/Likely_benign
2	85665662	G	A	G85665662A	SFTPB	NM_000542.5(SFTPB):c.526C>T:p.Leu176Phe	coding	Benign/Likely_benign
2	85665985	C	T	C85665985T	SFTPB	NM_000542.5(SFTPB):c.394-191G>A	noncoding	Benign
2	85666762	C	G	C85666762G	SFTPB	NM_000542.5(SFTPB):c.268-20G>C	noncoding	Benign/Likely_benign
2	85667598	C	T	C85667598T	SFTPB	NM_000542.5(SFTPB):c.195+81G>A	noncoding	Benign
2	85667728	C	T	C85667728T	SFTPB	NM_000542.5(SFTPB):c.146G>A:p.Cys49Tyr	coding	Pathogenic
2	85668464	G	T	G85668464T	SFTPB	NM_198843.3(SFTPB):c.-69+210C>A	noncoding	Benign
2	85668581	C	T	C85668581T	SFTPB	NM_198843.3(SFTPB):c.-69+93G>A	noncoding	Benign
2	85844270	G	C	G85844270C	ST3GAL5	NM_003896.4(ST3GAL5):c.1008+126C>G	noncoding	Benign
2	85844729	A	T	A85844729T	ST3GAL5	NM_003896.4(ST3GAL5):c.850-175T>A	noncoding	Benign
2	85844741	G	A	G85844741A	ST3GAL5	NM_003896.4(ST3GAL5):c.850-187C>T	noncoding	Benign
2	85844762	C	T	C85844762T	ST3GAL5	NM_003896.4(ST3GAL5):c.850-208G>A	noncoding	Benign
2	85846358	T	C	T85846358C	ST3GAL5	NM_003896.4(ST3GAL5):c.849+19A>G	noncoding	Benign
2	85846654	G	A	G85846654A	ST3GAL5	NM_003896.4(ST3GAL5):c.663-91C>T	noncoding	Benign
2	85848190	A	C	A85848190C	ST3GAL5	NM_003896.4(ST3GAL5):c.333T>G:p.Tyr111Ter	coding	Pathogenic
2	85848459	C	T	C85848459T	ST3GAL5	NM_003896.4(ST3GAL5):c.319-255G>A	noncoding	Benign
2	85860886	T	C	T85860886C	ST3GAL5	NM_003896.4(ST3GAL5):c.318+295A>G	noncoding	Benign
2	85861202	A	C	A85861202C	ST3GAL5	NM_003896.4(ST3GAL5):c.297T>G:p.Tyr99Ter	coding	Pathogenic
2	85863098	G	A	G85863098A	ST3GAL5	NM_003896.4(ST3GAL5):c.206+264C>T	noncoding	Benign
2	85863290	C	T	C85863290T	ST3GAL5	NM_003896.4(ST3GAL5):c.206+72G>A	noncoding	Benign
2	85888641	C	G	C85888641G	ST3GAL5	NM_003896.4(ST3GAL5):c.82+183G>C	noncoding	Benign
2	85889181	C	G	C85889181G	ST3GAL5	Single_allele	noncoding	Benign
2	86028601	G	A	G86028601A	POLR1A	NM_015425.6(POLR1A):c.4890C>T:p.Ala1630=	coding	Benign
2	86030403	A	T	A86030403T	POLR1A	NM_015425.6(POLR1A):c.4579-7T>A	noncoding	Benign
2	86030544	T	C	T86030544C	POLR1A	NM_015425.6(POLR1A):c.4579-148A>G	noncoding	Benign
2	86031661	T	G	T86031661G	POLR1A	NM_015425.6(POLR1A):c.4273-26A>C	noncoding	Benign
2	86032255	C	G	C86032255G	POLR1A	NM_015425.6(POLR1A):c.4272+17G>C	noncoding	Benign
2	86032320	C	T	C86032320T	POLR1A	NM_015425.6(POLR1A):c.4224G>A:p.Gly1408=	coding	Benign
2	86032618	C	T	C86032618T	POLR1A	NM_015425.6(POLR1A):c.4162-236G>A	noncoding	Benign
2	86033662	C	T	C86033662T	POLR1A	NM_015425.6(POLR1A):c.4160G>A:p.Arg1387Gln	coding	Benign
2	86039022	G	C	G86039022C	POLR1A	NM_015425.6(POLR1A):c.3877-165C>G	noncoding	Benign
2	86042040	C	T	C86042040T	POLR1A	NM_015425.6(POLR1A):c.3421G>A:p.Ala1141Thr	coding	Benign
2	86042777	C	T	C86042777T	POLR1A	NM_015425.6(POLR1A):c.3357+197G>A	noncoding	Benign
2	86043950	G	A	G86043950A	POLR1A	NM_015425.6(POLR1A):c.3135+189C>T	noncoding	Benign
2	86045227	C	G	C86045227G	POLR1A	NM_015425.6(POLR1A):c.2969+51G>C	noncoding	Benign
2	86045635	G	A	G86045635A	POLR1A	NM_015425.6(POLR1A):c.2868C>T:p.Leu956=	coding	Benign
2	86045993	T	C	T86045993C	POLR1A	NM_015425.6(POLR1A):c.2734-224A>G	noncoding	Benign
2	86048862	A	G	A86048862G	POLR1A	NM_015425.6(POLR1A):c.2634+22T>C	noncoding	Benign
2	86049272	C	G	C86049272G	POLR1A	NM_015425.6(POLR1A):c.2393-30G>C	noncoding	Benign
2	86052714	G	C	G86052714C	POLR1A	NM_015425.6(POLR1A):c.2392+103C>G	noncoding	Benign
2	86052804	G	A	G86052804A	POLR1A	NM_015425.6(POLR1A):c.2392+13C>T	noncoding	Benign
2	86052935	G	A	G86052935A	POLR1A	NM_015425.6(POLR1A):c.2274C>T:p.Ala758=	coding	Benign
2	86053170	A	C	A86053170C	POLR1A	NM_015425.6(POLR1A):c.2209-170T>G	noncoding	Benign
2	86054305	G	A	G86054305A	POLR1A	NM_015425.6(POLR1A):c.2059-16C>T	noncoding	Benign
2	86065533	C	T	C86065533T	POLR1A	NM_015425.6(POLR1A):c.1867-68G>A	noncoding	Benign
2	86074855	T	C	T86074855C	POLR1A	NM_015425.6(POLR1A):c.1611+175A>G	noncoding	Benign
2	86074980	A	G	A86074980G	POLR1A	NM_015425.6(POLR1A):c.1611+50T>C	noncoding	Benign
2	86075286	A	G	A86075286G	POLR1A	NM_015425.6(POLR1A):c.1381-26T>C	noncoding	Benign
2	86077803	G	A	G86077803A	POLR1A	NM_015425.6(POLR1A):c.1380+56C>T	noncoding	Benign
2	86077811	G	A	G86077811A	POLR1A	NM_015425.6(POLR1A):c.1380+48C>T	noncoding	Benign
2	86077922	G	A	G86077922A	POLR1A	NM_015425.6(POLR1A):c.1317C>T:p.Tyr439=	coding	Benign
2	86078000	T	C	T86078000C	POLR1A	NM_015425.6(POLR1A):c.1258-19A>G	noncoding	Benign
2	86078281	T	C	T86078281C	POLR1A	NM_015425.6(POLR1A):c.1090A>G:p.Lys364Glu	coding	Benign
2	86078411	T	C	T86078411C	POLR1A	NM_015425.6(POLR1A):c.1087-127A>G	noncoding	Benign
2	86080686	C	T	C86080686T	POLR1A	NM_015425.6(POLR1A):c.1086+130G>A	noncoding	Benign
2	86080857	G	C	G86080857C	POLR1A	NM_015425.6(POLR1A):c.1045C>G:p.Gln349Glu	coding	Benign
2	86082987	C	T	C86082987T	POLR1A	NM_015425.6(POLR1A):c.817+95G>A	noncoding	Benign
2	86083179	G	A	G86083179A	POLR1A	NM_015425.6(POLR1A):c.731-11C>T	noncoding	Benign
2	86088403	T	C	T86088403C	POLR1A	NM_015425.6(POLR1A):c.730+163A>G	noncoding	Benign
2	86088618	C	T	C86088618T	POLR1A	NM_015425.6(POLR1A):c.678G>A:p.Thr226=	coding	Benign
2	86089051	T	C	T86089051C	POLR1A	NM_015425.6(POLR1A):c.541-181A>G	noncoding	Benign
2	86089711	G	T	G86089711T	POLR1A	NM_015425.6(POLR1A):c.540+111C>A	noncoding	Benign
2	86089914	G	C	G86089914C	POLR1A	NM_015425.6(POLR1A):c.448C>G:p.Pro150Ala	coding	Benign
2	86105533	T	G	T86105533G	POLR1A	NM_015425.6(POLR1A):c.77+167A>C	noncoding	Benign
2	86105534	C	T	C86105534T	POLR1A	NM_015425.6(POLR1A):c.77+166G>A	noncoding	Benign
2	86105686	G	A	G86105686A	POLR1A	NM_015425.6(POLR1A):c.77+14C>T	noncoding	Benign
2	86106070	T	C	T86106070C	POLR1A	Single_allele	noncoding	Benign
2	86106252	C	T	C86106252T	POLR1A	NM_017952.6(PTCD3):c.5C>T:p.Ala2Val	coding	Benign
2	86125802	A	G	A86125802G	PTCD3	NM_017952.6(PTCD3):c.873A>G:p.Val291_Tyr292=	coding	Benign
2	86213962	G	T	G86213962T	REEP1	Single_allele	noncoding	Benign
2	86214582	C	G	C86214582G	REEP1	NM_001371279.1(REEP1):c.*2457G>C	noncoding	Benign/Likely_benign
2	86217086	G	A	G86217086A	REEP1	NM_001371279.1(REEP1):c.808C>T:p.Arg270Cys	coding	Benign
2	86232701	C	T	C86232701T	REEP1	NM_001371279.1(REEP1):c.519G>A:p.Pro173=	coding	Benign/Likely_benign
2	86232760	G	A	G86232760A	REEP1	NM_001371279.1(REEP1):c.460C>T:p.Gln154Ter	coding	Pathogenic
2	86232803	C	T	C86232803T	REEP1	NM_001371279.1(REEP1):c.418-1G>A	coding	Pathogenic
2	86251857	T	C	T86251857C	REEP1	NM_001371279.1(REEP1):c.417+100A>G	noncoding	Benign
2	86251912	A	G	A86251912G	REEP1	NM_001371279.1(REEP1):c.417+45T>C	noncoding	Benign
2	86251956	C	A	C86251956A	REEP1	NM_001371279.1(REEP1):c.417+1G>T	noncoding	Pathogenic
2	86251956	C	G	C86251956G	REEP1	NM_001371279.1(REEP1):c.417+1G>C	noncoding	Pathogenic
2	86251956	C	T	C86251956T	REEP1	NM_001371279.1(REEP1):c.417+1G>A	noncoding	Pathogenic
2	86252072	T	C	T86252072C	REEP1	NM_001371279.1(REEP1):c.304-2A>G	noncoding	Pathogenic
2	86252164	G	T	G86252164T	REEP1	NM_001371279.1(REEP1):c.304-94C>A	noncoding	Benign
2	86254692	A	G	A86254692G	REEP1	NM_001371279.1(REEP1):c.303+2T>C	noncoding	Pathogenic
2	86254696	T	A	T86254696A	REEP1	NM_001371279.1(REEP1):c.301A>T:p.Lys101Ter	coding	Pathogenic
2	86254737	A	C	A86254737C	REEP1	NM_001371279.1(REEP1):c.260T>G:p.Leu87Arg	coding	Pathogenic
2	86254773	C	T	C86254773T	REEP1	NM_001371279.1(REEP1):c.224G>A:p.Trp75Ter	coding	Pathogenic
2	86263822	A	T	A86263822T	REEP1	NM_001371279.1(REEP1):c.182+143T>A	noncoding	Benign
2	86263960	C	G	C86263960G	REEP1	NM_001371279.1(REEP1):c.182+5G>C	noncoding	Pathogenic
2	86263981	C	G	C86263981G	REEP1	NM_001371279.1(REEP1):c.166G>C:p.Asp56His	coding	Pathogenic
2	86264023	A	G	A86264023G	REEP1	NM_001371279.1(REEP1):c.124T>C:p.Trp42Arg	coding	Pathogenic
2	86264045	T	C	T86264045C	REEP1	NM_001371279.1(REEP1):c.106-4A>G	noncoding	Pathogenic
2	86264122	C	T	C86264122T	REEP1	NM_001371279.1(REEP1):c.106-81G>A	noncoding	Benign
2	86282092	A	G	A86282092G	REEP1	NM_001371279.1(REEP1):c.105+78T>C	noncoding	Benign
2	86282144	G	A	G86282144A	REEP1	NM_001371279.1(REEP1):c.105+26C>T	noncoding	Benign
2	86282219	G	A	G86282219A	REEP1	NM_001371279.1(REEP1):c.56C>T:p.Pro19Leu	coding	Pathogenic
2	86282265	T	G	T86282265G	REEP1	NM_001371279.1(REEP1):c.33-23A>C	noncoding	Benign
2	86282378	T	C	T86282378C	REEP1	NM_001371279.1(REEP1):c.33-136A>G	noncoding	Benign
2	86282478	T	C	T86282478C	REEP1	NM_001371279.1(REEP1):c.33-236A>G	noncoding	Benign
2	86337339	C	G	C86337339G	REEP1	NM_001371279.1(REEP1):c.32+140G>C	noncoding	Benign
2	86337460	G	C	G86337460C	REEP1	NM_001371279.1(REEP1):c.32+19C>G	noncoding	Benign/Likely_benign
2	86337525	C	T	C86337525T	REEP1	NM_001371279.1(REEP1):c.-15G>A	coding	Benign
2	86338248	A	G	A86338248G	REEP1	Single_allele	noncoding	Benign
2	86480381	T	C	T86480381C	KDM3A	NM_018433.6(KDM3A):c.2512+19T>C	noncoding	Benign
2	86789768	C	A	C86789768A	CD8A	NM_001768.7(CD8A):c.404-18G>T	noncoding	Benign
2	86790317	G	A	G86790317A	CD8A	NM_001768.7(CD8A):c.403+11C>T	noncoding	Benign
2	88448444	G	A	G88448444A	FOXI3	NM_001135649.3(FOXI3):c.1026C>T:p.Ile342=	coding	Benign
2	88452258	A	G	A88452258G	FOXI3	NM_001135649.3(FOXI3):c.278T>C:p.Leu93Pro	coding	Benign
2	88558848	C	T	C88558848T	EIF2AK3	NM_004836.7(EIF2AK3):c.3150+69G>A	noncoding	Benign
2	88562239	T	G	T88562239G	EIF2AK3	NM_004836.7(EIF2AK3):c.3087+50A>C	noncoding	Benign
2	88571114	A	T	A88571114T	EIF2AK3	NM_004836.7(EIF2AK3):c.2818-73T>A	noncoding	Benign
2	88574847	G	C	G88574847C	EIF2AK3	NM_004836.7(EIF2AK3):c.2636C>G:p.Ser879Ter	coding	Pathogenic
2	88575438	C	T	C88575438T	EIF2AK3	NM_004836.7(EIF2AK3):c.2045G>A:p.Trp682Ter	coding	Pathogenic/Likely_pathogenic
2	88585559	G	A	G88585559A	EIF2AK3	NM_004836.7(EIF2AK3):c.1650+282C>T	noncoding	Benign
2	88585957	T	A	T88585957A	EIF2AK3	NM_004836.7(EIF2AK3):c.1534A>T:p.Lys512Ter	coding	Pathogenic
2	88588108	A	C	A88588108C	EIF2AK3	NM_004836.7(EIF2AK3):c.1307-4T>G	noncoding	Benign/Likely_benign
2	88591302	A	T	A88591302T	EIF2AK3	NM_004836.7(EIF2AK3):c.768-250T>A	noncoding	Benign
2	88593024	C	T	C88593024T	EIF2AK3	NM_004836.7(EIF2AK3):c.767+248G>A	noncoding	Benign
2	88595606	G	A	G88595606A	EIF2AK3	NM_004836.7(EIF2AK3):c.496C>T:p.Gln166Ter	coding	Pathogenic
2	88595833	T	C	T88595833C	EIF2AK3	NM_004836.7(EIF2AK3):c.439-170A>G	noncoding	Benign
2	88626830	G	C	G88626830C	EIF2AK3	NM_004836.7(EIF2AK3):c.308+137C>G	noncoding	Benign
2	88692002	G	A	G88692002A	RPIA	NM_144563.3(RPIA):c.285+19G>A	noncoding	Benign
2	88735757	A	T	A88735757T	RPIA	NM_144563.3(RPIA):c.596+20A>T	noncoding	Benign
2	88736683	G	C	G88736683C	RPIA	NM_144563.3(RPIA):c.738+7G>C	noncoding	Benign
2	88857564	A	C	A88857564C	IGKC	NG_000834.1:g.484136T>G	noncoding	Pathogenic
2	88857564	A	G	A88857564G	IGKC	NG_000834.1:g.484136T>C	noncoding	Pathogenic
2	96132722	C	T	C96132722T	ASTL	NM_001002036.4(ASTL):c.456-1G>A	coding	Pathogenic
2	96254038	T	A	T96254038A	TMEM127	NM_017849.4(TMEM127):c.487A>T:p.Lys163Ter	coding	Pathogenic
2	96254980	G	A	G96254980A	TMEM127	NM_017849.4(TMEM127):c.262C>T:p.Gln88Ter	coding	Pathogenic
2	96255255	C	T	C96255255T	TMEM127	NM_017849.4(TMEM127):c.245-258G>A	noncoding	Benign
2	96277735	T	C	T96277735C	SNRNP200	NM_014014.5(SNRNP200):c.5755-20A>G	noncoding	Benign
2	96278528	G	A	G96278528A	SNRNP200	NM_014014.5(SNRNP200):c.5488+19C>T	noncoding	Benign
2	96278538	G	A	G96278538A	SNRNP200	NM_014014.5(SNRNP200):c.5488+9C>T	noncoding	Benign
2	96279578	A	G	A96279578G	SNRNP200	NM_014014.5(SNRNP200):c.5025-19T>C	noncoding	Benign
2	96283298	G	A	G96283298A	SNRNP200	NM_014014.5(SNRNP200):c.4818C>T:p.Asp1606=	coding	Benign
2	96283795	G	A	G96283795A	SNRNP200	NM_014014.5(SNRNP200):c.4584+18C>T	noncoding	Benign
2	96284014	G	A	G96284014A	SNRNP200	NM_014014.5(SNRNP200):c.4393-10C>T	noncoding	Benign/Likely_benign
2	96284373	G	A	G96284373A	SNRNP200	NM_014014.5(SNRNP200):c.4377C>T:p.Ile1459=	coding	Benign
2	96284545	T	C	T96284545C	SNRNP200	NM_014014.5(SNRNP200):c.4205A>G:p.Asn1402Ser	coding	Benign
2	96284591	G	A	G96284591A	SNRNP200	NM_014014.5(SNRNP200):c.4165-6C>T	noncoding	Benign
2	96286294	G	C	G96286294C	SNRNP200	NM_014014.5(SNRNP200):c.4003+17C>G	noncoding	Benign
2	96289882	G	T	G96289882T	SNRNP200	NM_014014.5(SNRNP200):c.2857C>A:p.Arg953=	coding	Benign
2	96290780	C	T	C96290780T	SNRNP200	NM_014014.5(SNRNP200):c.2457G>A:p.Val819=	coding	Benign
2	96291454	C	T	C96291454T	SNRNP200	NM_014014.5(SNRNP200):c.2359G>A:p.Ala787Thr	coding	Pathogenic
2	96291732	C	T	C96291732T	SNRNP200	NM_014014.5(SNRNP200):c.2310+19G>A	noncoding	Benign
2	96295536	G	T	G96295536T	SNRNP200	NM_014014.5(SNRNP200):c.1794C>A:p.Arg598=	coding	Benign
2	96296518	A	G	A96296518G	SNRNP200	NM_014014.5(SNRNP200):c.1671+18T>C	noncoding	Benign
2	96296545	G	A	G96296545A	SNRNP200	NM_014014.5(SNRNP200):c.1662C>T:p.Ser554=	coding	Benign
2	96297628	G	A	G96297628A	SNRNP200	NM_014014.5(SNRNP200):c.1203+9C>T	noncoding	Benign
2	96298427	A	G	A96298427G	SNRNP200	NM_014014.5(SNRNP200):c.983-7T>C	noncoding	Benign
2	96301514	G	A	G96301514A	SNRNP200	NM_014014.5(SNRNP200):c.574+10C>T	noncoding	Benign
2	96354311	T	C	T96354311C	NCAPH	NM_015341.5(NCAPH):c.1131T>C:p.Asp377=	coding	Benign
2	96364509	T	C	T96364509C	NCAPH	NM_015341.5(NCAPH):c.1616T>C:p.Val539Ala	coding	Benign
2	96686103	A	G	A96686103G	FER1L5	NM_001293083.2(FER1L5):c.2059A>G:p.Thr687Ala	coding	Benign
2	96760804	G	A	G96760804A	CNNM4	Single_allele	noncoding	Benign
2	96761433	T	C	T96761433C	CNNM4	NM_020184.4(CNNM4):c.434T>C:p.Met145Thr	coding	Benign/Likely_benign
2	96761582	C	T	C96761582T	CNNM4	NM_020184.4(CNNM4):c.583C>T:p.Leu195=	coding	Benign
2	96761755	G	C	G96761755C	CNNM4	NM_020184.4(CNNM4):c.756G>C:p.Leu252=	coding	Benign
2	96762583	G	A	G96762583A	CNNM4	NM_020184.4(CNNM4):c.1402+182G>A	noncoding	Benign
2	96797084	G	A	G96797084A	CNNM4	NM_020184.4(CNNM4):c.1475G>A:p.Gly492Asp	coding	Pathogenic
2	96797291	C	G	C96797291G	CNNM4	NM_020184.4(CNNM4):c.1546+136C>G	noncoding	Benign
2	96797358	T	C	T96797358C	CNNM4	NM_020184.4(CNNM4):c.1547-155T>C	noncoding	Benign
2	96797497	G	A	G96797497A	CNNM4	NM_020184.4(CNNM4):c.1547-16G>A	noncoding	Benign
2	96797792	G	A	G96797792A	CNNM4	NM_020184.4(CNNM4):c.1681+145G>A	noncoding	Benign
2	96799076	C	T	C96799076T	CNNM4	NM_020184.4(CNNM4):c.1701C>T:p.Pro567=	coding	Benign
2	96809337	C	A	C96809337A	CNNM4	NM_020184.4(CNNM4):c.2148C>A:p.Tyr716Ter	coding	Pathogenic
2	97713755	A	G	A97713755G	ZAP70	NM_001079.4(ZAP70):c.-101+81A>G	noncoding	Benign
2	97723901	A	C	A97723901C	ZAP70	NM_001079.4(ZAP70):c.-21-115A>C	noncoding	Benign
2	97724732	C	T	C97724732T	ZAP70	NM_001079.4(ZAP70):c.402+294C>T	noncoding	Benign
2	97725164	G	T	G97725164T	ZAP70	NM_001079.4(ZAP70):c.475G>T:p.Glu159Ter	coding	Pathogenic
2	97725201	A	G	A97725201G	ZAP70	NM_001079.4(ZAP70):c.512A>G:p.Glu171Gly	coding	Benign/Likely_benign
2	97733124	G	A	G97733124A	ZAP70	NM_001079.4(ZAP70):c.703-1G>A	noncoding	Pathogenic
2	97733231	C	T	C97733231T	ZAP70	NM_001079.4(ZAP70):c.790+19C>T	noncoding	Benign
2	97733232	G	A	G97733232A	ZAP70	NM_001079.4(ZAP70):c.790+20G>A	noncoding	Benign
2	97733553	C	T	C97733553T	ZAP70	NM_001079.4(ZAP70):c.847C>T:p.Arg283Ter	coding	Pathogenic
2	97733638	A	C	A97733638C	ZAP70	NM_001079.4(ZAP70):c.889+43A>C	noncoding	Benign
2	97733883	C	T	C97733883T	ZAP70	NM_001079.4(ZAP70):c.889+288C>T	noncoding	Benign
2	97735523	T	C	T97735523C	ZAP70	NM_001079.4(ZAP70):c.1289+67T>C	noncoding	Benign
2	97737384	C	T	C97737384T	ZAP70	NM_001079.4(ZAP70):c.1290-89C>T	noncoding	Benign
2	97737792	C	A	C97737792A	ZAP70	NM_001079.4(ZAP70):c.1518C>A:p.Tyr506Ter	coding	Pathogenic
2	97739151	C	G	C97739151G	ZAP70	NM_001079.4(ZAP70):c.1737-224C>G	noncoding	Benign
2	97739360	C	T	C97739360T	ZAP70	NM_001079.4(ZAP70):c.1737-15C>T	noncoding	Benign
2	98228211	C	G	C98228211G	VWA3B	NM_144992.5(VWA3B):c.2029C>G:p.Leu677Val	coding	Benign
2	98236710	G	A	G98236710A	VWA3B	NM_144992.5(VWA3B):c.2653G>A:p.Val885Met	coding	Benign
2	98312031	G	A	G98312031A	VWA3B	NM_144992.5(VWA3B):c.3734G>A:p.Arg1245Lys	coding	Benign
2	98369999	C	G	C98369999G	CNGA3	NM_001298.3(CNGA3):c.24C>G:p.Tyr8Ter	coding	Pathogenic
2	98370034	C	T	C98370034T	CNGA3	NM_001298.3(CNGA3):c.59C>T:p.Thr20Ile	coding	Benign/Likely_benign
2	98370037	C	G	C98370037G	CNGA3	NM_001298.3(CNGA3):c.62C>G:p.Ser21Ter	coding	Pathogenic
2	98377667	C	T	C98377667T	CNGA3	NM_001298.3(CNGA3):c.102-20C>T	noncoding	Benign
2	98377811	A	G	A98377811G	CNGA3	NM_001298.3(CNGA3):c.215+11A>G	noncoding	Benign/Likely_benign
2	98377951	T	C	T98377951C	CNGA3	NM_001298.3(CNGA3):c.215+151T>C	noncoding	Benign
2	98380207	G	A	G98380207A	CNGA3	NM_001298.3(CNGA3):c.248G>A:p.Trp83Ter	coding	Pathogenic
2	98380275	G	T	G98380275T	CNGA3	NM_001298.3(CNGA3):c.316G>T:p.Glu106Ter	coding	Pathogenic
2	98383304	G	T	G98383304T	CNGA3	NM_001298.3(CNGA3):c.396-84G>T	noncoding	Benign
2	98383430	C	T	C98383430T	CNGA3	NM_001298.3(CNGA3):c.438C>T:p.Asn146=	coding	Benign
2	98389646	G	A	G98389646A	CNGA3	NM_001298.3(CNGA3):c.450-12G>A	noncoding	Benign
2	98389657	G	A	G98389657A	CNGA3	NM_001298.3(CNGA3):c.450-1G>A	noncoding	Pathogenic
2	98389693	A	T	A98389693T	CNGA3	NM_001298.3(CNGA3):c.485A>T:p.Asp162Val	coding	Pathogenic
2	98389750	A	G	A98389750G	CNGA3	NM_001298.3(CNGA3):c.542A>G:p.Tyr181Cys	coding	Pathogenic
2	98389757	G	A	G98389757A	CNGA3	NM_001298.3(CNGA3):c.549G>A:p.Trp183Ter	coding	Pathogenic
2	98391877	G	A	G98391877A	CNGA3	NM_001298.3(CNGA3):c.580G>A:p.Glu194Lys	coding	Pathogenic
2	98391971	G	A	G98391971A	CNGA3	NM_001298.3(CNGA3):c.673+1G>A	coding	Pathogenic
2	98395796	A	C	A98395796C	CNGA3	NM_001298.3(CNGA3):c.674-48A>C	noncoding	Benign
2	98396117	G	A	G98396117A	CNGA3	NM_001298.3(CNGA3):c.947G>A:p.Trp316Ter	coding	Pathogenic
2	98396200	G	T	G98396200T	CNGA3	NM_001298.3(CNGA3):c.1030G>T:p.Glu344Ter	coding	Pathogenic
2	98396244	G	A	G98396244A	CNGA3	NM_001298.3(CNGA3):c.1074G>A:p.Trp358Ter	coding	Pathogenic
2	98396371	T	C	T98396371C	CNGA3	NM_001298.3(CNGA3):c.1201T>C:p.Ser401Pro	coding	Pathogenic
2	98396489	G	A	G98396489A	CNGA3	NM_001298.3(CNGA3):c.1319G>A:p.Trp440Ter	coding	Pathogenic
2	98396489	G	C	G98396489C	CNGA3	NM_001298.3(CNGA3):c.1319G>C:p.Trp440Ser	coding	Pathogenic
2	98396575	G	A	G98396575A	CNGA3	NM_001298.3(CNGA3):c.1405G>A:p.Ala469Thr	coding	Pathogenic
2	98396665	C	T	C98396665T	CNGA3	NM_001298.3(CNGA3):c.1495C>T:p.Arg499Ter	coding	Pathogenic
2	98396711	A	T	A98396711T	CNGA3	NM_001298.3(CNGA3):c.1541A>T:p.Asp514Val	coding	Pathogenic
2	98396887	T	C	T98396887C	CNGA3	NM_001298.3(CNGA3):c.1717T>C:p.Tyr573His	coding	Pathogenic/Likely_pathogenic
2	98396945	C	T	C98396945T	CNGA3	NM_001298.3(CNGA3):c.1775C>T:p.Pro592Leu	coding	Pathogenic
2	98397151	C	A	C98397151A	CNGA3	NM_001298.3(CNGA3):c.1981C>A:p.Arg661Ser	coding	Pathogenic/Likely_pathogenic
2	98397151	C	T	C98397151T	CNGA3	NM_001298.3(CNGA3):c.1981C>T:p.Arg661Cys	coding	Pathogenic
2	98604430	T	C	T98604430C	COA5	NM_001008215.3(COA5):c.100-239A>G	noncoding	Benign
2	98608279	C	T	C98608279T	COA5	NM_001008215.3(COA5):c.99+28G>A	noncoding	Benign
2	99154805	G	C	G99154805C	LIPT1	NM_025244.4(TSGA10):c.-733C>G	noncoding	Benign
2	99154809	C	T	C99154809T	LIPT1	NM_025244.4(TSGA10):c.-737G>A	noncoding	Benign
2	99155127	G	T	G99155127T	LIPT1	NM_145199.3(LIPT1):c.-2+76G>T	noncoding	Benign
2	99155218	G	C	G99155218C	LIPT1	NM_145199.3(LIPT1):c.-2+167G>C	noncoding	Benign
2	99155507	C	A	C99155507A	LIPT1	NM_145199.3(LIPT1):c.-2+456C>A	noncoding	Benign
2	99156738	T	G	T99156738G	LIPT1	NM_145199.3(LIPT1):c.-2+1687T>G	noncoding	Benign
2	99156969	A	G	A99156969G	LIPT1	NM_145199.3(LIPT1):c.-2+1918A>G	noncoding	Benign
2	99161958	A	T	A99161958T	LIPT1	NM_145199.3(LIPT1):c.1A>T:p.Met1Leu	coding	Benign
2	99163192	C	A	C99163192A	LIPT1	Single_allele	noncoding	Benign
2	99601618	G	A	G99601618A	AFF3	NM_001386135.1(AFF3):c.1188C>T:p.Ala396=	coding	Benign
2	100006668	G	A	G100006668A	AFF3	NM_001386135.1(AFF3):c.837C>T:p.Ala279=	coding	Benign
2	100006801	A	C	A100006801C	AFF3	NM_001386135.1(AFF3):c.704T>G:p.Val235Gly	coding	Pathogenic
2	100006807	G	A	G100006807A	AFF3	NM_001386135.1(AFF3):c.698C>T:p.Ala233Val	coding	Pathogenic
2	100006813	G	A	G100006813A	AFF3	NM_001386135.1(AFF3):c.692C>T:p.Pro231Leu	coding	Pathogenic
2	100006814	G	A	G100006814A	AFF3	NM_001386135.1(AFF3):c.691C>T:p.Pro231Ser	coding	Pathogenic
2	101002821	C	G	C101002821G	RPL31	NM_000993.5(RPL31):c.107+13C>G	noncoding	Benign
2	101002859	T	C	T101002859C	RPL31	NM_000993.5(RPL31):c.107+51T>C	noncoding	Benign
2	101002870	G	A	G101002870A	RPL31	NM_000993.5(RPL31):c.107+62G>A	noncoding	Benign
2	101002915	C	T	C101002915T	RPL31	NM_000993.5(RPL31):c.107+107C>T	noncoding	Benign
2	101004304	C	G	C101004304G	RPL31	NM_000993.5(RPL31):c.233+21C>G	noncoding	Benign
2	101005769	C	T	C101005769T	RPL31	NM_000993.5(RPL31):c.234-190C>T	noncoding	Benign
2	101006165	C	A	C101006165A	RPL31	NM_000993.5(RPL31):c.346+94C>A	coding	Benign
2	101011463	C	T	C101011463T	TBC1D8	NM_001330348.2(TBC1D8):c.2905G>A:p.Gly969Arg	coding	Benign
2	101018825	C	T	C101018825T	RPL31	NM_001330348.2(TBC1D8):c.2827+2856G>A	noncoding	Benign
2	101018907	G	A	G101018907A	RPL31	NM_001330348.2(TBC1D8):c.2827+2774C>T	noncoding	Benign
2	101019076	C	T	C101019076T	RPL31	NM_001330348.2(TBC1D8):c.2827+2605G>A	coding	Benign
2	101697473	C	T	C101697473T	MAP4K4	Single_allele	noncoding	Benign
2	101697975	T	C	T101697975C	MAP4K4	NM_001395002.1(MAP4K4):c.-106T>C	noncoding	Benign
2	101698156	G	A	G101698156A	MAP4K4	NM_001395002.1(MAP4K4):c.57+19G>A	noncoding	Benign
2	101698300	C	T	C101698300T	MAP4K4	NM_001395002.1(MAP4K4):c.57+163C>T	noncoding	Benign
2	101698595	A	G	A101698595G	MAP4K4	NM_001395002.1(MAP4K4):c.123+57A>G	noncoding	Benign
2	101790572	A	G	A101790572G	MAP4K4	NM_001395002.1(MAP4K4):c.124-148A>G	noncoding	Benign
2	101790948	C	T	C101790948T	MAP4K4	NM_001395002.1(MAP4K4):c.180+172C>T	noncoding	Benign
2	101823704	G	A	G101823704A	MAP4K4	NM_001395002.1(MAP4K4):c.181-224G>A	noncoding	Benign
2	101824261	G	A	G101824261A	MAP4K4	NM_001395002.1(MAP4K4):c.306+208G>A	noncoding	Benign
2	101829343	T	G	T101829343G	MAP4K4	NM_001395002.1(MAP4K4):c.418-161T>G	noncoding	Benign
2	101829431	A	G	A101829431G	MAP4K4	NM_001395002.1(MAP4K4):c.418-73A>G	noncoding	Benign
2	101834269	C	A	C101834269A	MAP4K4	NM_001395002.1(MAP4K4):c.640-140C>A	noncoding	Benign
2	101834606	G	A	G101834606A	MAP4K4	NM_001395002.1(MAP4K4):c.694+143G>A	noncoding	Benign
2	101836070	C	T	C101836070T	MAP4K4	NM_001395002.1(MAP4K4):c.773+92C>T	noncoding	Benign
2	101842806	A	G	A101842806G	MAP4K4	NM_001395002.1(MAP4K4):c.1022+125A>G	noncoding	Benign
2	101855763	G	T	G101855763T	MAP4K4	NM_001395002.1(MAP4K4):c.1234-214G>T	noncoding	Benign
2	101855896	C	G	C101855896G	MAP4K4	NM_001395002.1(MAP4K4):c.1234-81C>G	noncoding	Benign
2	101855997	A	G	A101855997G	MAP4K4	NM_001395002.1(MAP4K4):c.1254A>G:p.Glu418=	coding	Benign
2	101860991	C	T	C101860991T	MAP4K4	NM_001395002.1(MAP4K4):c.1866+5C>T	noncoding	Benign
2	101861196	G	A	G101861196A	MAP4K4	NM_001395002.1(MAP4K4):c.1866+210G>A	noncoding	Benign
2	101866715	A	T	A101866715T	MAP4K4	NM_001395002.1(MAP4K4):c.2356+136A>T	noncoding	Benign
2	101867421	T	G	T101867421G	MAP4K4	NM_001395002.1(MAP4K4):c.2454+112T>G	noncoding	Benign
2	101869863	C	T	C101869863T	MAP4K4	NM_001395002.1(MAP4K4):c.2639+66C>T	noncoding	Benign
2	101869971	A	G	A101869971G	MAP4K4	NM_001395002.1(MAP4K4):c.2639+174A>G	noncoding	Benign
2	101869973	A	G	A101869973G	MAP4K4	NM_001395002.1(MAP4K4):c.2639+176A>G	noncoding	Benign
2	101871400	A	T	A101871400T	MAP4K4	NM_001395002.1(MAP4K4):c.2761-94A>T	noncoding	Benign
2	101874004	C	T	C101874004T	MAP4K4	NM_001395002.1(MAP4K4):c.3071-78C>T	noncoding	Benign
2	101874290	G	C	G101874290C	MAP4K4	NM_001395002.1(MAP4K4):c.3241+38G>C	noncoding	Benign
2	101876990	G	A	G101876990A	MAP4K4	NM_001395002.1(MAP4K4):c.3242-13G>A	noncoding	Benign
2	101885050	G	C	G101885050C	MAP4K4	NM_001395002.1(MAP4K4):c.3521-137G>C	noncoding	Benign
2	101885127	T	G	T101885127G	MAP4K4	NM_001395002.1(MAP4K4):c.3521-60T>G	noncoding	Benign
2	101885429	A	G	A101885429G	MAP4K4	NM_001395002.1(MAP4K4):c.3621+142A>G	noncoding	Benign
2	101887977	G	A	G101887977A	MAP4K4	NM_001395002.1(MAP4K4):c.3931+40G>A	noncoding	Benign
2	101888101	T	A	T101888101A	MAP4K4	NM_001395002.1(MAP4K4):c.3931+164T>A	noncoding	Benign
2	101888666	T	A	T101888666A	MAP4K4	NM_001395002.1(MAP4K4):c.3932-130T>A	noncoding	Benign
2	101888972	A	G	A101888972G	MAP4K4	NM_001395002.1(MAP4K4):c.4071+37A>G	noncoding	Benign
2	102340744	G	A	G102340744A	IL1RL1	NM_016232.5(IL1RL1):c.526G>A:p.Ala176Thr	coding	Benign
2	104856477	G	T	G104856477T	POU3F3	NM_006236.3(POU3F3):c.967G>T:p.Glu323Ter	coding	Pathogenic
2	104856493	A	C	A104856493C	POU3F3	NM_006236.3(POU3F3):c.983A>C:p.Gln328Pro	coding	Pathogenic
2	104856594	C	A	C104856594A	POU3F3	NM_006236.3(POU3F3):c.1084C>A:p.Arg362Ser	coding	Pathogenic
2	104856750	G	T	G104856750T	POU3F3	NM_006236.3(POU3F3):c.1240G>T:p.Glu414Ter	coding	Pathogenic
2	105241898	C	T	C105241898T	GPR45	NM_007227.3(GPR45):c.40C>T:p.Leu14=	coding	Benign
2	105241939	C	T	C105241939T	GPR45	NM_007227.3(GPR45):c.81C>T:p.Thr27=	coding	Benign
2	105242056	C	A	C105242056A	GPR45	NM_007227.3(GPR45):c.198C>A:p.Arg66=	coding	Benign
2	105242345	G	A	G105242345A	GPR45	NM_007227.3(GPR45):c.487G>A:p.Ala163Thr	coding	Benign
2	105242362	G	C	G105242362C	GPR45	NM_007227.3(GPR45):c.504G>C:p.Thr168=	coding	Benign
2	105242428	C	G	C105242428G	GPR45	NM_007227.3(GPR45):c.570C>G:p.Pro190=	coding	Benign
2	105242536	C	G	C105242536G	GPR45	NM_007227.3(GPR45):c.678C>G:p.Ala226=	coding	Benign
2	105242575	G	C	G105242575C	GPR45	NM_007227.3(GPR45):c.717G>C:p.Arg239=	coding	Benign
2	105242792	C	T	C105242792T	GPR45	NM_007227.3(GPR45):c.934C>T:p.Leu312Phe	coding	Benign
2	105363049	T	C	T105363049C	FHL2	NM_001318895.3(FHL2):c.688+236A>G	noncoding	Benign
2	105363711	C	T	C105363711T	FHL2	NM_001318895.3(FHL2):c.502-240G>A	noncoding	Benign
2	105367746	T	C	T105367746C	FHL2	NM_001318895.3(FHL2):c.332-7A>G	noncoding	Benign
2	105373259	G	A	G105373259A	FHL2	NM_001318895.3(FHL2):c.331+300C>T	noncoding	Benign
2	105373543	A	G	A105373543G	FHL2	NM_001318895.3(FHL2):c.331+16T>C	noncoding	Benign
2	107987811	A	G	A107987811G	SLC5A7	NM_021815.5(SLC5A7):c.-51-294A>G	noncoding	Benign
2	107987955	T	C	T107987955C	SLC5A7	NM_021815.5(SLC5A7):c.-51-150T>C	noncoding	Benign
2	107987962	C	T	C107987962T	SLC5A7	NM_021815.5(SLC5A7):c.-51-143C>T	noncoding	Benign
2	107992477	C	G	C107992477G	SLC5A7	NM_021815.5(SLC5A7):c.292+258C>G	noncoding	Benign
2	107997698	A	G	A107997698G	SLC5A7	NM_021815.5(SLC5A7):c.449-140A>G	noncoding	Benign
2	107998144	A	C	A107998144C	SLC5A7	NM_021815.5(SLC5A7):c.597+158A>C	noncoding	Benign
2	107998180	A	G	A107998180G	SLC5A7	NM_021815.5(SLC5A7):c.597+194A>G	noncoding	Benign
2	108002084	G	A	G108002084A	SLC5A7	NM_021815.5(SLC5A7):c.741+44G>A	noncoding	Benign
2	108005762	C	T	C108005762T	SLC5A7	NM_021815.5(SLC5A7):c.742-287C>T	noncoding	Benign
2	108006490	G	A	G108006490A	SLC5A7	NM_021815.5(SLC5A7):c.895+288G>A	noncoding	Benign
2	108010012	G	A	G108010012A	SLC5A7	NM_021815.5(SLC5A7):c.1114-220G>A	noncoding	Benign
2	108751250	T	A	T108751250A	RANBP2	NM_006267.5(RANBP2):c.1274-14T>A	noncoding	Benign/Likely_benign
2	108751608	G	A	G108751608A	RANBP2	NM_006267.5(RANBP2):c.1536G>A:p.Pro512=	coding	Benign
2	108751855	T	C	T108751855C	RANBP2	NM_006267.5(RANBP2):c.1632-16T>C	noncoding	Benign
2	108751883	A	G	A108751883G	RANBP2	NM_006267.5(RANBP2):c.1644A>G:p.Val548=	coding	Benign
2	108751979	A	G	A108751979G	RANBP2	NM_006267.5(RANBP2):c.1740A>G:p.Glu580=	coding	Benign
2	108752009	A	G	A108752009G	RANBP2	NM_006267.5(RANBP2):c.1755+15A>G	noncoding	Benign
2	108753985	T	G	T108753985G	RANBP2	NM_006267.5(RANBP2):c.2202+14T>G	noncoding	Benign
2	108763290	T	C	T108763290C	RANBP2	NM_006267.5(RANBP2):c.2751T>C:p.Tyr917=	coding	Benign
2	108763293	G	A	G108763293A	RANBP2	NM_006267.5(RANBP2):c.2754G>A:p.Pro918=	coding	Benign
2	108763440	A	G	A108763440G	RANBP2	NM_006267.5(RANBP2):c.2901A>G:p.Gln967=	coding	Benign
2	108763792	A	C	A108763792C	RANBP2	NM_006267.5(RANBP2):c.3253A>C:p.Lys1085Gln	coding	Benign
2	108766742	A	G	A108766742G	RANBP2	NM_006267.5(RANBP2):c.6203A>G:p.Asn2068Ser	coding	Benign
2	108773007	G	A	G108773007A	RANBP2	NM_006267.5(RANBP2):c.8253G>A:p.Glu2751=	coding	Benign
2	108777247	G	A	G108777247A	RANBP2	NM_006267.5(RANBP2):c.8599+16G>A	noncoding	Benign
2	108782524	C	T	C108782524T	RANBP2	NM_006267.5(RANBP2):c.9035-4C>T	noncoding	Benign
2	108782709	G	A	G108782709A	RANBP2	NM_006267.5(RANBP2):c.9216G>A:p.Ala3072=	coding	Benign
2	108897040	C	G	C108897040G	EDAR	NM_022336.4(EDAR):c.1214G>C:p.Gly405Ala	coding	Pathogenic
2	108897040	C	T	C108897040T	EDAR	NM_022336.4(EDAR):c.1214G>A:p.Gly405Asp	coding	Pathogenic
2	108897330	A	T	A108897330T	EDAR	NM_022336.4(EDAR):c.1025-101T>A	noncoding	Benign
2	108906161	A	G	A108906161G	EDAR	NM_022336.4(EDAR):c.1024+147T>C	noncoding	Benign
2	108906240	G	T	G108906240T	EDAR	NM_022336.4(EDAR):c.1024+68C>A	noncoding	Benign
2	108906369	C	G	C108906369G	EDAR	NM_022336.4(EDAR):c.964-1G>C	coding	Pathogenic
2	108906369	C	T	C108906369T	EDAR	NM_022336.4(EDAR):c.964-1G>A	coding	Pathogenic
2	108906582	G	T	G108906582T	EDAR	NM_022336.4(EDAR):c.964-214C>A	noncoding	Benign
2	108908061	G	T	G108908061T	EDAR	NM_022336.4(EDAR):c.804-42C>A	noncoding	Benign
2	108908121	G	A	G108908121A	EDAR	NM_022336.4(EDAR):c.804-102C>T	noncoding	Benign
2	108908233	A	G	A108908233G	EDAR	NM_022336.4(EDAR):c.804-214T>C	noncoding	Benign
2	108908285	T	G	T108908285G	EDAR	NM_022336.4(EDAR):c.804-266A>C	noncoding	Benign
2	108910887	C	T	C108910887T	EDAR	NM_022336.4(EDAR):c.656-37G>A	noncoding	Benign
2	108923197	A	G	A108923197G	EDAR	NM_022336.4(EDAR):c.442+171T>C	noncoding	Benign
2	108923198	T	C	T108923198C	EDAR	NM_022336.4(EDAR):c.442+170A>G	noncoding	Benign
2	108923318	G	A	G108923318A	EDAR	NM_022336.4(EDAR):c.442+50C>T	noncoding	Benign
2	108923580	C	G	C108923580G	EDAR	NM_022336.4(EDAR):c.357-127G>C	noncoding	Benign
2	108929512	G	C	G108929512C	EDAR	NM_022336.4(EDAR):c.175-133C>G	noncoding	Benign
2	108929616	C	T	C108929616T	EDAR	NM_022336.4(EDAR):c.175-237G>A	noncoding	Benign
2	108929617	G	C	G108929617C	EDAR	NM_022336.4(EDAR):c.175-238C>G	noncoding	Benign
2	108930072	A	G	A108930072G	EDAR	NM_022336.4(EDAR):c.174+48T>C	noncoding	Benign
2	108930099	C	A	C108930099A	EDAR	NM_022336.4(EDAR):c.174+21G>T	noncoding	Benign
2	108930147	C	T	C108930147T	EDAR	NM_022336.4(EDAR):c.147G>A:p.Pro49=	coding	Benign
2	108930377	G	A	G108930377A	EDAR	NM_022336.4(EDAR):c.52-135C>T	noncoding	Benign
2	108931141	G	A	G108931141A	EDAR	NM_022336.4(EDAR):c.-18-109C>T	noncoding	Benign
2	110129561	T	G	T110129561G	NPHP1	NM_001128178.3(NPHP1):c.1643-302A>C	noncoding	Benign
2	110131531	C	T	C110131531T	NPHP1	NM_001128178.3(NPHP1):c.1642+148G>A	noncoding	Benign
2	110131733	G	A	G110131733A	NPHP1	NM_001128178.3(NPHP1):c.1588C>T:p.Arg530Ter	coding	Pathogenic
2	110143318	G	A	G110143318A	NPHP1	NM_001128178.3(NPHP1):c.1529+224C>T	noncoding	Benign
2	110143504	A	T	A110143504T	NPHP1	NM_001128178.3(NPHP1):c.1529+38T>A	noncoding	Benign
2	110144685	G	A	G110144685A	NPHP1	NM_001128178.3(NPHP1):c.1353-116C>T	noncoding	Benign
2	110146836	C	T	C110146836T	NPHP1	NM_001128178.3(NPHP1):c.1270-1G>A	coding	Pathogenic
2	110146853	T	C	T110146853C	NPHP1	NM_001128178.3(NPHP1):c.1270-18A>G	noncoding	Benign
2	110147642	C	A	C110147642A	NPHP1	NM_001128178.3(NPHP1):c.1269+274G>T	noncoding	Benign
2	110147676	T	G	T110147676G	NPHP1	NM_001128178.3(NPHP1):c.1269+240A>C	noncoding	Benign
2	110150257	C	A	C110150257A	NPHP1	NM_001128178.3(NPHP1):c.1084-1G>T	coding	Pathogenic
2	110150464	G	T	G110150464T	NPHP1	NM_001128178.3(NPHP1):c.1084-208C>A	noncoding	Benign
2	110160050	A	C	A110160050C	NPHP1	NM_001128178.3(NPHP1):c.1083+77T>G	noncoding	Benign
2	110160492	G	C	G110160492C	NPHP1	NM_001128178.3(NPHP1):c.955-237C>G	noncoding	Benign
2	110160594	T	C	T110160594C	NPHP1	NM_001128178.3(NPHP1):c.955-339A>G	noncoding	Benign
2	110161464	A	G	A110161464G	NPHP1	NM_001128178.3(NPHP1):c.954+139T>C	noncoding	Benign
2	110161731	A	T	A110161731T	NPHP1	NM_001128178.3(NPHP1):c.860-34T>A	noncoding	Benign
2	110161907	T	C	T110161907C	NPHP1	NM_001128178.3(NPHP1):c.860-210A>G	noncoding	Benign
2	110163063	G	A	G110163063A	NPHP1	NM_001128178.3(NPHP1):c.844C>T:p.Gln282Ter	coding	Pathogenic
2	110164265	G	A	G110164265A	NPHP1	NM_001128178.3(NPHP1):c.771+423C>T	noncoding	Benign
2	110165484	G	A	G110165484A	NPHP1	NM_001128178.3(NPHP1):c.625-329C>T	noncoding	Benign
2	110168881	A	G	A110168881G	NPHP1	NM_001128178.3(NPHP1):c.523-328T>C	noncoding	Benign
2	110178290	A	G	A110178290G	NPHP1	NM_001128178.3(NPHP1):c.329+133T>C	noncoding	Benign
2	110178458	G	A	G110178458A	NPHP1	NM_001128178.3(NPHP1):c.294C>T:p.Gly98=	coding	Benign
2	110179524	C	T	C110179524T	NPHP1	NM_001128178.3(NPHP1):c.204+100G>A	noncoding	Benign
2	110201348	C	A	C110201348A	NPHP1	NM_001128178.3(NPHP1):c.143+73G>T	noncoding	Benign
2	110201420	C	T	C110201420T	NPHP1	NM_001128178.3(NPHP1):c.143+1G>A	noncoding	Pathogenic
2	110205149	G	A	G110205149A	NPHP1	Single_allele	noncoding	Benign
2	111161417	A	G	A111161417G	BCL2L11	NM_138621.5(BCL2L11):c.499-2716A>G	noncoding	Benign
2	111769289	G	A	G111769289A	ANAPC1	NM_022662.4(ANAPC1):c.*2C>T	noncoding	Benign
2	111847725	C	T	C111847725T	ANAPC1	NM_022662.4(ANAPC1):c.1791G>A:p.Leu597=	coding	Benign
2	111847888	T	C	T111847888C	ANAPC1	NM_022662.4(ANAPC1):c.1651-23A>G	noncoding	Benign
2	111867998	T	C	T111867998C	ANAPC1	NM_022662.4(ANAPC1):c.685+25A>G	noncoding	Benign
2	111968119	G	A	G111968119A	MERTK	NM_006343.3(MERTK):c.845-18G>A	noncoding	Benign
2	111975418	G	T	G111975418T	MERTK	NM_006343.3(MERTK):c.1090G>T:p.Glu364Ter	coding	Pathogenic
2	111975428	G	A	G111975428A	MERTK	NM_006343.3(MERTK):c.1100G>A:p.Trp367Ter	coding	Pathogenic
2	111983021	T	G	T111983021G	MERTK	NM_006343.3(MERTK):c.1296+28T>G	noncoding	Benign
2	111994247	C	A	C111994247A	MERTK	NM_006343.3(MERTK):c.1297-4C>A	noncoding	Benign
2	111994422	T	A	T111994422A	MERTK	NM_006343.3(MERTK):c.1450+18T>A	noncoding	Benign
2	111997303	G	A	G111997303A	MERTK	NM_006343.3(MERTK):c.1451-20G>A	noncoding	Benign
2	112001243	T	G	T112001243G	MERTK	NM_006343.3(MERTK):c.1647T>G:p.Tyr549Ter	coding	Pathogenic
2	112001268	C	T	C112001268T	MERTK	NM_006343.3(MERTK):c.1672C>T:p.Arg558Ter	coding	Pathogenic/Likely_pathogenic
2	112008382	G	A	G112008382A	MERTK	NM_006343.3(MERTK):c.1868-1G>A	noncoding	Pathogenic
2	112019513	G	A	G112019513A	MERTK	NM_006343.3(MERTK):c.2180G>A:p.Arg727Gln	coding	Pathogenic
2	112019520	C	A	C112019520A	MERTK	NM_006343.3(MERTK):c.2187C>A:p.Cys729Ter	coding	Pathogenic
2	112021420	A	G	A112021420G	MERTK	NM_006343.3(MERTK):c.2190-2A>G	noncoding	Pathogenic
2	112021421	G	T	G112021421T	MERTK	NM_006343.3(MERTK):c.2190-1G>T	noncoding	Pathogenic
2	112022260	G	A	G112022260A	MERTK	NM_006343.3(MERTK):c.2352G>A:p.Trp784Ter	coding	Pathogenic
2	112542706	C	G	C112542706G	POLR1B	NM_019014.6(POLR1B):c.177+35C>G	noncoding	Benign
2	112542753	G	A	G112542753A	POLR1B	NM_019014.6(POLR1B):c.177+82G>A	noncoding	Benign
2	112542817	A	C	A112542817C	POLR1B	NM_019014.6(POLR1B):c.177+146A>C	noncoding	Benign
2	112547573	G	C	G112547573C	POLR1B	NM_019014.6(POLR1B):c.492+6G>C	noncoding	Benign
2	112547575	C	T	C112547575T	POLR1B	NM_019014.6(POLR1B):c.492+8C>T	noncoding	Benign
2	112547781	G	A	G112547781A	POLR1B	NM_019014.6(POLR1B):c.492+214G>A	noncoding	Benign
2	112549250	A	G	A112549250G	POLR1B	NM_019014.6(POLR1B):c.493-17A>G	noncoding	Benign
2	112549504	T	C	T112549504C	POLR1B	NM_019014.6(POLR1B):c.625+105T>C	noncoding	Benign
2	112549538	C	T	C112549538T	POLR1B	NM_019014.6(POLR1B):c.625+139C>T	noncoding	Benign
2	112550841	A	T	A112550841T	POLR1B	NM_019014.6(POLR1B):c.626-25A>T	noncoding	Benign
2	112550939	T	A	T112550939A	POLR1B	NM_019014.6(POLR1B):c.699T>A:p.Thr233=	coding	Benign
2	112551045	C	T	C112551045T	POLR1B	NM_019014.6(POLR1B):c.762+43C>T	noncoding	Benign
2	112551218	C	G	C112551218G	POLR1B	NM_019014.6(POLR1B):c.762+216C>G	noncoding	Benign
2	112551896	C	T	C112551896T	POLR1B	NM_019014.6(POLR1B):c.884C>T:p.Ser295Leu	coding	Benign
2	112552043	G	A	G112552043A	POLR1B	NM_019014.6(POLR1B):c.986+45G>A	noncoding	Benign
2	112552076	C	A	C112552076A	POLR1B	NM_019014.6(POLR1B):c.986+78C>A	noncoding	Benign
2	112552966	G	A	G112552966A	POLR1B	NM_019014.6(POLR1B):c.1158+150G>A	noncoding	Benign
2	112558226	A	C	A112558226C	POLR1B	NM_019014.6(POLR1B):c.1330+145A>C	noncoding	Benign
2	112559776	G	A	G112559776A	POLR1B	NM_019014.6(POLR1B):c.1612+202G>A	noncoding	Benign
2	112564323	T	C	T112564323C	POLR1B	NM_019014.6(POLR1B):c.1613-43T>C	noncoding	Benign
2	112564334	G	A	G112564334A	POLR1B	NM_019014.6(POLR1B):c.1613-32G>A	noncoding	Benign
2	112564367	G	C	G112564367C	POLR1B	NM_019014.6(POLR1B):c.1614G>C:p.Gly538=	coding	Benign
2	112564703	A	G	A112564703G	POLR1B	NM_019014.6(POLR1B):c.1746+204A>G	noncoding	Benign
2	112568102	T	C	T112568102C	POLR1B	NM_019014.6(POLR1B):c.1882T>C:p.Leu628=	coding	Benign
2	112568704	C	G	C112568704G	POLR1B	NM_019014.6(POLR1B):c.1918-42C>G	noncoding	Benign
2	112568925	C	T	C112568925T	POLR1B	NM_019014.6(POLR1B):c.2074+23C>T	noncoding	Benign
2	112574664	G	C	G112574664C	POLR1B	NM_019014.6(POLR1B):c.2526-183G>C	noncoding	Benign
2	112574844	T	C	T112574844C	POLR1B	NM_019014.6(POLR1B):c.2526-3T>C	noncoding	Benign
2	112575833	C	T	C112575833T	POLR1B	NM_019014.6(POLR1B):c.*104C>T	noncoding	Benign
2	112738554	A	T	A112738554T	CKAP2L	NM_152515.5(CKAP2L):c.*269T>A	noncoding	Benign
2	112738943	T	A	T112738943A	CKAP2L	NM_152515.5(CKAP2L):c.2118A>T:p.Glu706Asp	coding	Benign
2	112739377	T	A	T112739377A	CKAP2L	NM_152515.5(CKAP2L):c.2013-329A>T	noncoding	Benign
2	112740760	C	T	C112740760T	CKAP2L	NM_152515.5(CKAP2L):c.2012+58G>A	noncoding	Benign
2	112740989	A	G	A112740989G	CKAP2L	NM_152515.5(CKAP2L):c.1841T>C:p.Leu614Ser	coding	Benign
2	112741053	T	C	T112741053C	CKAP2L	NM_152515.5(CKAP2L):c.1823-46A>G	noncoding	Benign
2	112741177	G	A	G112741177A	CKAP2L	NM_152515.5(CKAP2L):c.1823-170C>T	noncoding	Benign
2	112742993	G	T	G112742993T	CKAP2L	NM_152515.5(CKAP2L):c.1759-224C>A	noncoding	Benign
2	112743028	A	G	A112743028G	CKAP2L	NM_152515.5(CKAP2L):c.1759-259T>C	noncoding	Benign
2	112746101	A	G	A112746101G	CKAP2L	NM_152515.5(CKAP2L):c.1758+319T>C	noncoding	Benign
2	112746253	C	T	C112746253T	CKAP2L	NM_152515.5(CKAP2L):c.1758+167G>A	noncoding	Benign
2	112752423	A	G	A112752423G	CKAP2L	NM_152515.5(CKAP2L):c.1446T>C:p.Pro482=	coding	Benign
2	112752656	C	T	C112752656T	CKAP2L	NM_152515.5(CKAP2L):c.1395-182G>A	noncoding	Benign
2	112755927	A	G	A112755927G	CKAP2L	NM_152515.5(CKAP2L):c.1394+50T>C	noncoding	Benign
2	112756237	C	T	C112756237T	CKAP2L	NM_152515.5(CKAP2L):c.1134G>A:p.Arg378=	coding	Benign
2	112756248	T	C	T112756248C	CKAP2L	NM_152515.5(CKAP2L):c.1123A>G:p.Ile375Val	coding	Benign
2	112756582	T	A	T112756582A	CKAP2L	NM_152515.5(CKAP2L):c.789A>T:p.Arg263Ser	coding	Benign
2	112756603	T	C	T112756603C	CKAP2L	NM_152515.5(CKAP2L):c.768A>G:p.Val256=	coding	Benign
2	112756834	A	G	A112756834G	CKAP2L	NM_152515.5(CKAP2L):c.537T>C:p.Phe179=	coding	Benign
2	112757186	T	C	T112757186C	CKAP2L	NM_152515.5(CKAP2L):c.185A>G:p.Asn62Ser	coding	Benign
2	112762552	G	A	G112762552A	CKAP2L	NM_152515.5(CKAP2L):c.55C>T:p.Leu19Phe	coding	Benign
2	112764713	A	C	A112764713C	CKAP2L	Single_allele	noncoding	Benign
2	112764786	T	C	T112764786C	CKAP2L	Single_allele	noncoding	Benign
2	112764883	G	C	G112764883C	CKAP2L	Single_allele	noncoding	Benign
2	112918682	T	C	T112918682C	IL37	NM_014439.4(IL37):c.530T>C:p.Ile177Thr	coding	Pathogenic
2	113117640	A	C	A113117640C	IL1RN	Single_allele	noncoding	Benign
2	113117851	G	A	G113117851A	IL1RN	Single_allele	noncoding	Benign
2	113118054	T	C	T113118054C	IL1RN	NM_173841.3(IL1RN):c.10+26T>C	noncoding	Benign
2	113118176	C	G	C113118176G	IL1RN	NM_173841.3(IL1RN):c.10+148C>G	noncoding	Benign
2	113118196	A	G	A113118196G	IL1RN	NM_173841.3(IL1RN):c.10+168A>G	noncoding	Benign
2	113119836	G	T	G113119836T	IL1RN	NM_173841.3(IL1RN):c.11-230G>T	noncoding	Benign
2	113119918	G	T	G113119918T	IL1RN	NM_173841.3(IL1RN):c.11-148G>T	noncoding	Benign
2	113119961	G	C	G113119961C	IL1RN	NM_173841.3(IL1RN):c.11-105G>C	noncoding	Benign
2	113120147	C	T	C113120147T	IL1RN	NM_173841.3(IL1RN):c.73+19C>T	noncoding	Benign
2	113129685	C	T	C113129685T	IL1RN	NM_173842.3(IL1RN):c.205+21C>T	noncoding	Benign
2	113129696	G	A	G113129696A	IL1RN	NM_173842.3(IL1RN):c.205+32G>A	noncoding	Benign
2	113129717	G	C	G113129717C	IL1RN	NM_173842.3(IL1RN):c.205+53G>C	noncoding	Benign
2	113129758	T	G	T113129758G	IL1RN	NM_173842.3(IL1RN):c.205+94T>G	noncoding	Benign
2	113129761	A	C	A113129761C	IL1RN	NM_173842.3(IL1RN):c.205+97A>C	noncoding	Benign
2	113129799	G	A	G113129799A	IL1RN	NM_173842.3(IL1RN):c.205+135G>A	noncoding	Benign
2	113129822	G	A	G113129822A	IL1RN	NM_173842.3(IL1RN):c.205+158G>A	noncoding	Benign
2	113129881	G	T	G113129881T	IL1RN	NM_173842.3(IL1RN):c.205+217G>T	noncoding	Benign
2	113130888	A	G	A113130888G	IL1RN	NM_173842.3(IL1RN):c.206-157A>G	noncoding	Benign
2	113130893	C	G	C113130893G	IL1RN	NM_173842.3(IL1RN):c.206-152C>G	noncoding	Benign
2	113130980	G	A	G113130980A	IL1RN	NM_173842.3(IL1RN):c.206-65G>A	noncoding	Benign
2	113131002	T	C	T113131002C	IL1RN	NM_173842.3(IL1RN):c.206-43T>C	noncoding	Benign
2	113131176	T	G	T113131176G	IL1RN	NM_173842.3(IL1RN):c.318+19T>G	noncoding	Benign
2	113131216	A	T	A113131216T	IL1RN	NM_173842.3(IL1RN):c.318+59A>T	noncoding	Benign
2	113131323	T	A	T113131323A	IL1RN	NM_173842.3(IL1RN):c.318+166T>A	noncoding	Benign
2	113131429	T	G	T113131429G	IL1RN	NM_173842.3(IL1RN):c.318+272T>G	noncoding	Benign
2	113131484	G	A	G113131484A	IL1RN	NM_173842.3(IL1RN):c.318+327G>A	noncoding	Benign
2	113132426	C	T	C113132426T	IL1RN	NM_173842.3(IL1RN):c.319-230C>T	noncoding	Benign
2	113132639	C	T	C113132639T	IL1RN	NM_173842.3(IL1RN):c.319-17C>T	noncoding	Benign
2	113218346	T	C	T113218346C	PAX8	NM_003466.4(PAX8):c.*187A>G	noncoding	Benign/Likely_benign
2	113219877	G	A	G113219877A	PAX8	NM_003466.4(PAX8):c.1276+215C>T	noncoding	Benign
2	113220285	T	G	T113220285G	PAX8	NM_003466.4(PAX8):c.1190-107A>C	noncoding	Benign
2	113220305	C	T	C113220305T	PAX8	NM_003466.4(PAX8):c.1190-127G>A	noncoding	Benign
2	113220359	C	T	C113220359T	PAX8	NM_003466.4(PAX8):c.1190-181G>A	noncoding	Benign
2	113226926	C	T	C113226926T	PAX8	NM_003466.4(PAX8):c.1189+229G>A	noncoding	Benign
2	113227017	T	C	T113227017C	PAX8	NM_003466.4(PAX8):c.1189+138A>G	noncoding	Benign
2	113227593	C	T	C113227593T	PAX8	NM_003466.4(PAX8):c.1088-337G>A	noncoding	Benign
2	113227609	C	G	C113227609G	PAX8	NM_003466.4(PAX8):c.1088-353G>C	noncoding	Benign
2	113235767	A	C	A113235767C	PAX8	NM_003466.4(PAX8):c.899-185T>G	noncoding	Benign
2	113235808	C	G	C113235808G	PAX8	NM_003466.4(PAX8):c.899-226G>C	noncoding	Benign
2	113236502	C	T	C113236502T	PAX8	NM_003466.4(PAX8):c.898+99G>A	coding	Benign
2	113236840	G	T	G113236840T	PAX8	NM_003466.4(PAX8):c.778-119C>A	noncoding	Benign
2	113236884	G	A	G113236884A	PAX8	NM_003466.4(PAX8):c.778-163C>T	noncoding	Benign
2	113236933	A	G	A113236933G	PAX8	NM_003466.4(PAX8):c.778-212T>C	noncoding	Benign
2	113237018	C	T	C113237018T	PAX8	NM_003466.4(PAX8):c.778-297G>A	noncoding	Benign
2	113241446	T	C	T113241446C	PAX8	NM_003466.4(PAX8):c.777+105A>G	noncoding	Benign
2	113241670	G	A	G113241670A	PAX8	NM_003466.4(PAX8):c.658C>T:p.Arg220Ter	coding	Pathogenic
2	113241957	G	C	G113241957C	PAX8	NM_003466.4(PAX8):c.601+51C>G	noncoding	Benign
2	113242555	C	T	C113242555T	PAX8	NM_003466.4(PAX8):c.478+135G>A	noncoding	Benign
2	113242771	G	A	G113242771A	PAX8	NM_003466.4(PAX8):c.397C>T:p.Arg133Trp	coding	Pathogenic
2	113242881	C	A	C113242881A	PAX8	NM_003466.4(PAX8):c.390-103G>T	noncoding	Benign
2	113244326	C	T	C113244326T	PAX8	NM_003466.4(PAX8):c.389+101G>A	noncoding	Benign
2	113244344	A	G	A113244344G	PAX8	NM_003466.4(PAX8):c.389+83T>C	noncoding	Benign
2	113244868	T	C	T113244868C	PAX8	NM_003466.4(PAX8):c.192-244A>G	noncoding	Benign
2	113246660	G	A	G113246660A	PAX8	NM_003466.4(PAX8):c.191+94C>T	noncoding	Benign
2	113246844	A	T	A113246844T	PAX8	NM_003466.4(PAX8):c.101T>A:p.Ile34Asn	coding	Pathogenic
2	113278173	C	A	C113278173A	PAX8	NM_003466.4(PAX8):c.25+197G>T	noncoding	Benign
2	113278346	A	G	A113278346G	PAX8	NM_003466.4(PAX8):c.25+24T>C	noncoding	Benign
2	117975255	G	A	G117975255A	CCDC93	NM_019044.5(CCDC93):c.683C>T:p.Pro228Leu	coding	Benign
2	119247736	G	A	G119247736A	STEAP3	NM_182915.3(STEAP3):c.580G>A:p.Ala194Thr	coding	Benign
2	119247993	C	T	C119247993T	STEAP3	NM_182915.3(STEAP3):c.837C>T:p.Leu279=	coding	Benign
2	119254836	C	T	C119254836T	STEAP3	NM_182915.3(STEAP3):c.1203C>T:p.Phe401=	coding	Benign
2	119946590	G	T	G119946590T	PTPN4	NM_002830.4(PTPN4):c.1656+16G>T	noncoding	Benign
2	120797077	A	C	A120797077C	GLI2	NM_001374353.1(GLI2):c.-30-214A>C	noncoding	Benign
2	120797174	A	G	A120797174G	GLI2	NM_001374353.1(GLI2):c.-30-117A>G	noncoding	Benign
2	120797482	C	T	C120797482T	GLI2	NM_001374353.1(GLI2):c.148+14C>T	noncoding	Benign/Likely_benign
2	120927532	C	T	C120927532T	GLI2	NM_001374353.1(GLI2):c.254+66C>T	noncoding	Benign
2	120927641	A	G	A120927641G	GLI2	NM_001374353.1(GLI2):c.254+175A>G	noncoding	Benign
2	120927677	G	A	G120927677A	GLI2	NM_001374353.1(GLI2):c.254+211G>A	noncoding	Benign
2	120951008	C	T	C120951008T	GLI2	NM_001374353.1(GLI2):c.255-235C>T	noncoding	Benign
2	120951013	G	A	G120951013A	GLI2	NM_001374353.1(GLI2):c.255-230G>A	noncoding	Benign
2	120951020	C	T	C120951020T	GLI2	NM_001374353.1(GLI2):c.255-223C>T	noncoding	Benign
2	120951087	A	G	A120951087G	GLI2	NM_001374353.1(GLI2):c.255-156A>G	noncoding	Benign
2	120951226	G	T	G120951226T	GLI2	NM_001374353.1(GLI2):c.255-17G>T	noncoding	Benign
2	120951446	G	A	G120951446A	GLI2	NM_001374353.1(GLI2):c.457+1G>A	coding	Pathogenic
2	120955153	C	T	C120955153T	GLI2	NM_001374353.1(GLI2):c.458-92C>T	noncoding	Benign
2	120955627	G	A	G120955627A	GLI2	NM_001374353.1(GLI2):c.643+197G>A	noncoding	Benign
2	120968469	G	A	G120968469A	GLI2	NM_001374353.1(GLI2):c.644-245G>A	noncoding	Benign
2	120970177	A	G	A120970177G	GLI2	NM_001374353.1(GLI2):c.846-216A>G	noncoding	Benign
2	120970266	G	A	G120970266A	GLI2	NM_001374353.1(GLI2):c.846-127G>A	noncoding	Benign
2	120971600	C	G	C120971600G	GLI2	NM_001374353.1(GLI2):c.1060-341C>G	noncoding	Benign
2	120971747	A	G	A120971747G	GLI2	NM_001374353.1(GLI2):c.1060-194A>G	noncoding	Benign
2	120971784	T	C	T120971784C	GLI2	NM_001374353.1(GLI2):c.1060-157T>C	noncoding	Benign
2	120971919	T	C	T120971919C	GLI2	NM_001374353.1(GLI2):c.1060-22T>C	noncoding	Benign
2	120972274	A	G	A120972274G	GLI2	NM_001374353.1(GLI2):c.1182+211A>G	noncoding	Benign
2	120972355	G	C	G120972355C	GLI2	NM_001374353.1(GLI2):c.1182+292G>C	noncoding	Benign
2	120972394	T	C	T120972394C	GLI2	NM_001374353.1(GLI2):c.1182+331T>C	noncoding	Benign
2	120974849	C	T	C120974849T	GLI2	NM_001374353.1(GLI2):c.1183-126C>T	noncoding	Benign
2	120982404	A	G	A120982404G	GLI2	NM_001374353.1(GLI2):c.1468-312A>G	noncoding	Benign
2	120982614	C	T	C120982614T	GLI2	NM_001374353.1(GLI2):c.1468-102C>T	noncoding	Benign
2	120982618	T	G	T120982618G	GLI2	NM_001374353.1(GLI2):c.1468-98T>G	noncoding	Benign
2	120983167	C	T	C120983167T	GLI2	NM_001374353.1(GLI2):c.1632+287C>T	noncoding	Benign
2	120984186	G	A	G120984186A	GLI2	NM_001374353.1(GLI2):c.1633-285G>A	noncoding	Benign
2	120984235	C	T	C120984235T	GLI2	NM_001374353.1(GLI2):c.1633-236C>T	noncoding	Benign
2	120984267	A	G	A120984267G	GLI2	NM_001374353.1(GLI2):c.1633-204A>G	noncoding	Benign
2	120984744	G	T	G120984744T	GLI2	NM_001374353.1(GLI2):c.1905+1G>T	coding	Pathogenic
2	120986120	T	C	T120986120C	GLI2	NM_001374353.1(GLI2):c.1906-158T>C	noncoding	Benign
2	120986884	A	G	A120986884G	GLI2	NM_001374353.1(GLI2):c.2242+270A>G	noncoding	Benign
2	120989590	C	T	C120989590T	GLI2	NM_001374353.1(GLI2):c.3625C>T:p.Arg1209Ter	coding	Pathogenic/Likely_pathogenic
2	121530637	C	T	C121530637T	RNU4ATAC	NM_001395891.1(CLASP1):c.196-312G>A	noncoding	Benign
2	121530831	C	G	C121530831G	RNU4ATAC	NM_001395891.1(CLASP1):c.196-506G>C	noncoding	Benign
2	121530839	T	C	T121530839C	RNU4ATAC	NM_001395891.1(CLASP1):c.196-514A>G	noncoding	Benign
2	121530869	C	T	C121530869T	RNU4ATAC	NM_001395891.1(CLASP1):c.196-544G>A	noncoding	Benign
2	121530937	C	T	C121530937T	RNU4ATAC	NM_001395891.1(CLASP1):c.196-612G>A	coding	Benign
2	121530966	C	T	C121530966T	RNU4ATAC	NM_001395891.1(CLASP1):c.196-641G>A	coding	Benign
2	121530972	G	A	G121530972A	RNU4ATAC	NM_001395891.1(CLASP1):c.196-647C>T	coding	Benign
2	121530993	G	C	G121530993C	RNU4ATAC	NM_001395891.1(CLASP1):c.196-668C>G	coding	Pathogenic
2	121530999	T	G	T121530999G	RNU4ATAC	NM_001395891.1(CLASP1):c.196-674A>C	coding	Pathogenic
2	121531039	C	T	C121531039T	RNU4ATAC	NM_001395891.1(CLASP1):c.196-714G>A	noncoding	Benign
2	126656040	G	A	G126656040A	GYPC	Single_allele	noncoding	Benign
2	126690187	G	A	G126690187A	GYPC	NM_002101.5(GYPC):c.50-68G>A	noncoding	Benign
2	126695903	G	A	G126695903A	GYPC	NM_002101.5(GYPC):c.191-43G>A	noncoding	Benign
2	126696088	A	C	A126696088C	GYPC	NM_002101.5(GYPC):c.333A>C:p.Gly111=	coding	Benign
2	127050401	C	T	C127050401T	BIN1	NM_139343.3(BIN1):c.1674+20G>A	noncoding	Benign
2	127050834	G	A	G127050834A	BIN1	NM_139343.3(BIN1):c.1540C>T:p.Arg514Cys	coding	Benign
2	127053855	T	G	T127053855G	BIN1	NM_139343.3(BIN1):c.1239+50A>C	noncoding	Benign
2	127054238	A	G	A127054238G	BIN1	NM_139343.3(BIN1):c.1132-226T>C	noncoding	Benign
2	127057616	C	T	C127057616T	BIN1	NM_139343.3(BIN1):c.1003-15G>A	noncoding	Benign/Likely_benign
2	127057642	C	T	C127057642T	BIN1	NM_139343.3(BIN1):c.1003-41G>A	noncoding	Benign
2	127070109	C	T	C127070109T	BIN1	NM_139343.3(BIN1):c.316-19G>A	noncoding	Benign/Likely_benign
2	127081619	G	A	G127081619A	BIN1	NM_139343.3(BIN1):c.85-4913C>T	noncoding	Benign
2	127081858	C	T	C127081858T	BIN1	NM_139343.3(BIN1):c.85-5152G>A	noncoding	Benign
2	127081898	G	A	G127081898A	BIN1	NM_139343.3(BIN1):c.85-5192C>T	noncoding	Benign
2	127081937	G	A	G127081937A	BIN1	NM_139343.3(BIN1):c.85-5231C>T	noncoding	Benign
2	127081958	T	C	T127081958C	BIN1	NM_139343.3(BIN1):c.85-5252A>G	noncoding	Benign
2	127082205	C	A	C127082205A	BIN1	NM_139343.3(BIN1):c.85-5499G>T	noncoding	Benign
2	127102573	C	A	C127102573A	BIN1	NM_139343.3(BIN1):c.84+4287G>T	noncoding	Benign
2	127106573	A	G	A127106573G	BIN1	NM_139343.3(BIN1):c.84+287T>C	noncoding	Benign
2	127107332	A	T	A127107332T	BIN1	NM_139343.2(BIN1):c.-389T>A	noncoding	Benign/Likely_benign
2	127107479	C	T	C127107479T	BIN1	Single_allele	noncoding	Benign
2	127107516	A	G	A127107516G	BIN1	Single_allele	noncoding	Benign
2	127257733	G	T	G127257733T	ERCC3	NM_000122.2(ERCC3):c.2218-6C>A	noncoding	Pathogenic
2	127257791	C	T	C127257791T	ERCC3	NM_000122.2(ERCC3):c.2218-64G>A	noncoding	Benign
2	127257818	C	T	C127257818T	ERCC3	NM_000122.2(ERCC3):c.2218-91G>A	noncoding	Benign
2	127259382	G	A	G127259382A	ERCC3	NM_000122.2(ERCC3):c.2131C>T:p.Gln711Ter	coding	Pathogenic
2	127260946	T	C	T127260946C	ERCC3	NM_000122.2(ERCC3):c.2064+282A>G	noncoding	Benign
2	127261602	G	C	G127261602C	ERCC3	NM_000122.2(ERCC3):c.1946-256C>G	noncoding	Benign
2	127271216	T	C	T127271216C	ERCC3	NM_000122.2(ERCC3):c.1945+120A>G	noncoding	Benign
2	127272801	T	C	T127272801C	ERCC3	NM_000122.2(ERCC3):c.1827+64A>G	noncoding	Benign
2	127278907	G	A	G127278907A	ERCC3	NM_000122.2(ERCC3):c.1730+266C>T	noncoding	Benign
2	127279157	A	C	A127279157C	ERCC3	NM_000122.2(ERCC3):c.1730+16T>G	noncoding	Benign
2	127279183	G	A	G127279183A	ERCC3	NM_000122.2(ERCC3):c.1720C>T:p.Arg574Ter	coding	Pathogenic
2	127279386	G	A	G127279386A	ERCC3	NM_000122.2(ERCC3):c.1528-11C>T	noncoding	Benign
2	127279567	G	T	G127279567T	ERCC3	NM_000122.2(ERCC3):c.1528-192C>A	noncoding	Benign
2	127280620	G	A	G127280620A	ERCC3	NM_000122.2(ERCC3):c.1354C>T:p.Arg452Ter	coding	Pathogenic/Likely_pathogenic
2	127286883	G	A	G127286883A	ERCC3	NM_000122.2(ERCC3):c.1162C>T:p.Gln388Ter	coding	Pathogenic
2	127288972	C	A	C127288972A	ERCC3	NM_000122.2(ERCC3):c.823-108G>T	noncoding	Benign
2	127289433	A	G	A127289433G	ERCC3	NM_000122.2(ERCC3):c.726T>C:p.Ser242=	coding	Benign
2	127289525	C	G	C127289525G	ERCC3	NM_000122.2(ERCC3):c.658-24G>C	noncoding	Benign
2	127290372	C	A	C127290372A	ERCC3	NM_000122.2(ERCC3):c.472-99G>T	noncoding	Benign
2	127290566	C	T	C127290566T	ERCC3	NM_000122.2(ERCC3):c.472-293G>A	noncoding	Benign
2	127292424	A	G	A127292424G	ERCC3	NM_000122.2(ERCC3):c.471+186T>C	noncoding	Benign
2	127292492	C	T	C127292492T	ERCC3	NM_000122.2(ERCC3):c.471+118G>A	noncoding	Benign
2	127292558	T	C	T127292558C	ERCC3	NM_000122.2(ERCC3):c.471+52A>G	noncoding	Benign
2	127292907	T	C	T127292907C	ERCC3	NM_000122.2(ERCC3):c.235-61A>G	noncoding	Benign
2	127293733	C	A	C127293733A	ERCC3	NM_000122.2(ERCC3):c.29-15G>T	noncoding	Benign/Likely_benign
2	127418286	C	T	C127418286T	PROC	NC_000002.11:g.128175862C>T	noncoding	Benign
2	127418299	G	A	G127418299A	PROC	NC_000002.11:g.128175875G>A	noncoding	Benign
2	127418425	T	C	T127418425C	PROC	NG_016323.1:g.5006T>C	noncoding	Pathogenic
2	127419801	C	T	C127419801T	PROC	NM_000312.4(PROC):c.-21-121C>T	noncoding	Benign
2	127421363	C	T	C127421363T	PROC	NM_000312.4(PROC):c.151C>T:p.Arg51Cys	coding	Pathogenic
2	127421750	G	A	G127421750A	PROC	NM_000312.4(PROC):c.237+301G>A	noncoding	Benign
2	127422645	A	G	A127422645G	PROC	NM_000312.4(PROC):c.238-272A>G	noncoding	Benign
2	127423074	C	A	C127423074A	PROC	NM_000312.4(PROC):c.303C>A:p.Cys101Ter	coding	Pathogenic
2	127423171	G	T	G127423171T	PROC	NM_000312.4(PROC):c.400G>T:p.Glu134Ter	coding	Pathogenic
2	127423173	T	C	T127423173C	PROC	NM_000312.4(PROC):c.400+2T>C	noncoding	Pathogenic
2	127423352	G	C	G127423352C	PROC	NM_000312.4(PROC):c.479G>C:p.Cys160Ser	coding	Pathogenic
2	127423393	C	T	C127423393T	PROC	NM_000312.4(PROC):c.520C>T:p.Gln174Ter	coding	Pathogenic
2	127423452	A	G	A127423452G	PROC	NM_000312.4(PROC):c.535+44A>G	noncoding	Benign
2	127425769	G	C	G127425769C	PROC	NM_000312.4(PROC):c.536-316G>C	noncoding	Benign
2	127425871	A	G	A127425871G	PROC	NM_000312.4(PROC):c.536-214A>G	noncoding	Benign
2	127426090	T	G	T127426090G	PROC	NM_000312.4(PROC):c.541T>G:p.Phe181Val	coding	Pathogenic
2	127426110	G	A	G127426110A	PROC	NM_000312.4(PROC):c.561G>A:p.Trp187Ter	coding	Pathogenic
2	127426224	G	A	G127426224A	PROC	NM_000312.4(PROC):c.675G>A:p.Trp225Ter	coding	Pathogenic
2	127426338	G	T	G127426338T	PROC	NM_000312.4(PROC):c.678+111G>T	noncoding	Benign
2	127428012	T	G	T127428012G	PROC	NM_000312.4(PROC):c.797-345T>G	noncoding	Benign
2	127428112	T	C	T127428112C	PROC	NM_000312.4(PROC):c.797-245T>C	noncoding	Benign
2	127428374	C	T	C127428374T	PROC	NM_000312.4(PROC):c.814C>T:p.Arg272Cys	coding	Pathogenic/Likely_pathogenic
2	127428542	C	T	C127428542T	PROC	NM_000312.4(PROC):c.982C>T:p.Arg328Cys	coding	Pathogenic/Likely_pathogenic
2	127428579	C	T	C127428579T	PROC	NM_000312.4(PROC):c.1019C>T:p.Thr340Met	coding	Pathogenic
2	127428778	G	A	G127428778A	PROC	NM_000312.4(PROC):c.1218G>A:p.Met406Ile	coding	Pathogenic
2	127639232	A	G	A127639232G	LIMS2	NM_001161403.3(LIMS2):c.*49T>C	noncoding	Benign
2	127639843	T	C	T127639843C	LIMS2	NM_001161403.3(LIMS2):c.878+227A>G	noncoding	Benign
2	127640159	G	A	G127640159A	LIMS2	NM_001161403.3(LIMS2):c.803-14C>T	noncoding	Benign
2	127640251	A	G	A127640251G	LIMS2	NM_001161403.3(LIMS2):c.802+19T>C	noncoding	Benign
2	127640990	T	G	T127640990G	LIMS2	NM_001161403.3(LIMS2):c.661-2A>C	noncoding	Pathogenic
2	127641004	G	A	G127641004A	LIMS2	NM_001161403.3(LIMS2):c.661-16C>T	noncoding	Benign
2	127641265	T	C	T127641265C	LIMS2	NM_001161403.3(LIMS2):c.661-277A>G	noncoding	Benign
2	127641734	C	G	C127641734G	LIMS2	NM_001161403.3(LIMS2):c.660+315G>C	noncoding	Benign
2	127641839	G	A	G127641839A	LIMS2	NM_001161403.3(LIMS2):c.660+210C>T	noncoding	Benign
2	127642211	C	T	C127642211T	LIMS2	NM_001161403.3(LIMS2):c.510-12G>A	noncoding	Benign
2	127642349	T	C	T127642349C	LIMS2	NM_001161403.3(LIMS2):c.510-150A>G	noncoding	Benign
2	127642858	G	A	G127642858A	LIMS2	NM_001161403.3(LIMS2):c.509+65C>T	noncoding	Benign
2	127643208	G	A	G127643208A	LIMS2	NM_001161403.3(LIMS2):c.360-136C>T	noncoding	Benign
2	127654232	G	A	G127654232A	LIMS2	NM_001161403.3(LIMS2):c.359+192C>T	noncoding	Benign
2	127654360	A	G	A127654360G	LIMS2	NM_001161403.3(LIMS2):c.359+64T>C	noncoding	Benign
2	127654376	A	G	A127654376G	LIMS2	NM_001161403.3(LIMS2):c.359+48T>C	noncoding	Benign
2	127655205	G	A	G127655205A	LIMS2	NM_001161403.3(LIMS2):c.172-309C>T	noncoding	Benign
2	127657105	A	G	A127657105G	LIMS2	NM_001161403.3(LIMS2):c.171+298T>C	noncoding	Benign
2	127657639	G	A	G127657639A	LIMS2	NM_001161403.3(LIMS2):c.12-77C>T	noncoding	Benign
2	127664189	C	T	C127664189T	LIMS2	NM_001161403.3(LIMS2):c.12-6627G>A	noncoding	Benign
2	127664251	C	T	C127664251T	LIMS2	NM_001161403.3(LIMS2):c.12-6689G>A	noncoding	Benign
2	127664255	G	A	G127664255A	LIMS2	NM_001161403.3(LIMS2):c.12-6693C>T	noncoding	Benign
2	127664704	C	G	C127664704G	LIMS2	NM_001161403.3(LIMS2):c.12-7142G>C	noncoding	Benign
2	127673614	A	G	A127673614G	LIMS2	NM_001161403.3(LIMS2):c.11+1400T>C	noncoding	Benign
2	127673823	A	G	A127673823G	LIMS2	NM_001161403.3(LIMS2):c.11+1191T>C	noncoding	Benign
2	127673902	G	T	G127673902T	LIMS2	NM_001161403.3(LIMS2):c.11+1112C>A	noncoding	Benign
2	127673920	A	G	A127673920G	LIMS2	NM_001161403.3(LIMS2):c.11+1094T>C	noncoding	Benign
2	127674937	C	T	C127674937T	LIMS2	NM_001161403.3(LIMS2):c.11+77G>A	noncoding	Benign
2	127674960	A	G	A127674960G	LIMS2	NM_001161403.3(LIMS2):c.11+54T>C	noncoding	Benign
2	127675218	A	G	A127675218G	LIMS2	NM_001161403.3(LIMS2):c.-194T>C	noncoding	Benign
2	127675412	A	C	A127675412C	LIMS2	NM_001161403.3(LIMS2):c.-388T>G	noncoding	Benign
2	128268045	T	C	T128268045C	HS6ST1	NM_004807.3(HS6ST1):c.*117A>G	noncoding	Benign
2	128268131	C	G	C128268131G	HS6ST1	NM_004807.3(HS6ST1):c.*31G>C	noncoding	Benign
2	128268525	G	A	G128268525A	HS6ST1	NM_004807.3(HS6ST1):c.873C>T:p.Phe291=	coding	Benign
2	128268570	C	G	C128268570G	HS6ST1	NM_004807.3(HS6ST1):c.828G>C:p.Leu276=	coding	Benign
2	128268696	C	T	C128268696T	HS6ST1	NM_004807.3(HS6ST1):c.702G>A:p.Thr234=	coding	Benign/Likely_benign
2	128268723	G	A	G128268723A	HS6ST1	NM_004807.3(HS6ST1):c.675C>T:p.Tyr225=	coding	Benign
2	128268837	G	A	G128268837A	HS6ST1	NM_004807.3(HS6ST1):c.561C>T:p.Pro187=	coding	Benign
2	128268883	G	A	G128268883A	HS6ST1	NM_004807.3(HS6ST1):c.528-13C>T	noncoding	Benign
2	128269048	T	C	T128269048C	HS6ST1	NM_004807.3(HS6ST1):c.528-178A>G	noncoding	Benign
2	128269175	A	G	A128269175G	HS6ST1	NM_004807.3(HS6ST1):c.528-305T>C	noncoding	Benign
2	128269203	A	G	A128269203G	HS6ST1	NM_004807.3(HS6ST1):c.528-333T>C	noncoding	Benign
2	128317768	C	T	C128317768T	HS6ST1	NM_004807.3(HS6ST1):c.527+269G>A	noncoding	Benign
2	128318387	T	C	T128318387C	HS6ST1	NM_004807.3(HS6ST1):c.177A>G:p.Thr59=	coding	Benign
2	128318442	C	G	C128318442G	HS6ST1	NM_004807.3(HS6ST1):c.122G>C:p.Ser41Thr	coding	Benign
2	128318813	C	A	C128318813A	HS6ST1	NM_004807.3(HS6ST1):c.-250G>T	noncoding	Benign
2	128318822	C	G	C128318822G	HS6ST1	NM_004807.3(HS6ST1):c.-259G>C	noncoding	Benign
2	128318844	C	G	C128318844G	HS6ST1	NM_004807.3(HS6ST1):c.-281G>C	noncoding	Benign
2	130153274	G	A	G130153274A	SMPD4	NM_017951.5(SMPD4):c.2025+45C>T	noncoding	Benign
2	130157224	T	C	T130157224C	SMPD4	NM_017951.5(SMPD4):c.1097+27A>G	noncoding	Benign
2	130167456	A	C	A130167456C	SMPD4	NM_017951.5(SMPD4):c.792+2T>G	noncoding	Pathogenic
2	130167515	C	T	C130167515T	SMPD4	NM_017951.5(SMPD4):c.735G>A:p.Thr245=	coding	Benign
2	130173246	C	T	C130173246T	SMPD4	NM_017951.5(SMPD4):c.345+33G>A	noncoding	Benign
2	130173594	G	A	G130173594A	SMPD4	NM_017951.5(SMPD4):c.189C>T:p.Leu63_Val64=	coding	Benign
2	130194376	G	A	G130194376A	TUBA3E	NM_207312.3(TUBA3E):c.466C>T:p.Arg156Trp	coding	Benign
2	130194465	G	A	G130194465A	TUBA3E	NM_207312.3(TUBA3E):c.377C>T:p.Ala126Val	coding	Benign
2	130194480	G	C	G130194480C	TUBA3E	NM_207312.3(TUBA3E):c.376-14C>G	noncoding	Benign
2	130338790	G	A	G130338790A	CCDC115	NM_032357.4(CCDC115):c.*330C>T	noncoding	Benign
2	130341758	C	T	C130341758T	CCDC115	NM_032357.4(CCDC115):c.216-9G>A	noncoding	Benign
2	130341809	G	C	G130341809C	CCDC115	NM_032357.4(CCDC115):c.215+32C>G	noncoding	Benign
2	130342631	G	A	G130342631A	CCDC115	NM_033416.2(IMP4):c.-302G>A	noncoding	Benign
2	130342715	A	G	A130342715G	CCDC115	Single_allele	noncoding	Benign
2	135052002	T	G	T135052002G	RAB3GAP1	Single_allele	noncoding	Benign
2	135058236	A	T	A135058236T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.150+150A>T	noncoding	Benign
2	135090993	T	G	T135090993G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.151-5T>G	noncoding	Pathogenic
2	135112836	A	T	A135112836T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.363-315A>T	noncoding	Benign
2	135112838	A	T	A135112838T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.363-313A>T	noncoding	Benign
2	135112844	A	T	A135112844T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.363-307A>T	noncoding	Benign
2	135113494	A	G	A135113494G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.482+224A>G	noncoding	Benign
2	135115252	G	A	G135115252A	RAB3GAP1	NM_012233.3(RAB3GAP1):c.519G>A:p.Trp173Ter	coding	Pathogenic
2	135115292	C	T	C135115292T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.559C>T:p.Arg187Ter	coding	Pathogenic
2	135120861	C	T	C135120861T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.691C>T:p.Arg231Ter	coding	Pathogenic
2	135124086	T	C	T135124086C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.749-79T>C	noncoding	Benign
2	135125898	G	A	G135125898A	RAB3GAP1	NM_012233.3(RAB3GAP1):c.831-283G>A	noncoding	Benign
2	135130198	C	T	C135130198T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1066+111C>T	noncoding	Benign
2	135130508	G	T	G135130508T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1067-44G>T	noncoding	Benign
2	135133038	G	C	G135133038C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1326+54G>C	noncoding	Benign
2	135135115	C	T	C135135115T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1500-150C>T	noncoding	Benign
2	135135317	C	T	C135135317T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1552C>T:p.Gln518Ter	coding	Pathogenic
2	135162521	C	T	C135162521T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2290-34C>T	noncoding	Benign
2	135164269	T	A	T135164269A	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2607-325T>A	noncoding	Benign
2	135164593	G	C	G135164593C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2607-1G>C	noncoding	Pathogenic
2	135164720	C	A	C135164720A	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2709+24C>A	noncoding	Benign
2	135167432	T	G	T135167432G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2710-1113T>G	noncoding	Benign
2	135788369	T	C	T135788369C	LCT	NM_002299.4(LCT):c.5739A>G:p.Lys1913=	coding	Benign
2	135788561	C	T	C135788561T	LCT	NM_002299.4(LCT):c.5564-17G>A	noncoding	Benign
2	135788581	C	T	C135788581T	LCT	NM_002299.4(LCT):c.5564-37G>A	noncoding	Benign
2	135789357	C	T	C135789357T	LCT	NM_002299.4(LCT):c.5563+214G>A	noncoding	Benign
2	135789497	A	G	A135789497G	LCT	NM_002299.4(LCT):c.5563+74T>C	noncoding	Benign
2	135789913	G	A	G135789913A	LCT	NM_002299.4(LCT):c.5336-115C>T	noncoding	Benign
2	135790546	G	C	G135790546C	LCT	NM_002299.4(LCT):c.5335+112C>G	noncoding	Benign
2	135790599	A	G	A135790599G	LCT	NM_002299.4(LCT):c.5335+59T>C	noncoding	Benign
2	135790622	G	A	G135790622A	LCT	NM_002299.4(LCT):c.5335+36C>T	noncoding	Benign
2	135790636	G	T	G135790636T	LCT	NM_002299.4(LCT):c.5335+22C>A	noncoding	Benign
2	135794618	G	A	G135794618A	LCT	NM_002299.4(LCT):c.5111+23C>T	noncoding	Benign
2	135794801	A	G	A135794801G	LCT	NM_002299.4(LCT):c.4977-26T>C	noncoding	Benign
2	135794947	G	A	G135794947A	LCT	NM_002299.4(LCT):c.4977-172C>T	noncoding	Benign
2	135794956	A	C	A135794956C	LCT	NM_002299.4(LCT):c.4977-181T>G	noncoding	Benign
2	135797914	T	C	T135797914C	LCT	NM_002299.4(LCT):c.4976+115A>G	noncoding	Benign
2	135797955	T	G	T135797955G	LCT	NM_002299.4(LCT):c.4976+74A>C	noncoding	Benign
2	135800587	C	T	C135800587T	LCT	NM_002299.4(LCT):c.4866+20G>A	noncoding	Benign
2	135800595	G	A	G135800595A	LCT	NM_002299.4(LCT):c.4866+12C>T	noncoding	Benign/Likely_benign
2	135804165	G	A	G135804165A	LCT	NM_002299.4(LCT):c.4465-37C>T	noncoding	Benign
2	135804750	G	T	G135804750T	LCT	NM_002299.4(LCT):c.4464+17C>A	noncoding	Benign
2	135807239	G	T	G135807239T	LCT	NM_002299.4(LCT):c.4062C>A:p.Tyr1354Ter	coding	Pathogenic
2	135807414	G	A	G135807414A	LCT	NM_002299.4(LCT):c.3905-18C>T	noncoding	Benign
2	135807458	C	G	C135807458G	LCT	NM_002299.4(LCT):c.3905-62G>C	noncoding	Benign
2	135808431	A	G	A135808431G	LCT	NM_002299.4(LCT):c.3904+12T>C	noncoding	Benign
2	135808812	G	A	G135808812A	LCT	NM_002299.4(LCT):c.3535C>T:p.Gln1179Ter	coding	Pathogenic
2	135809988	T	A	T135809988A	LCT	NM_002299.4(LCT):c.2359A>T:p.Lys787Ter	coding	Pathogenic
2	135810063	A	G	A135810063G	LCT	NM_002299.4(LCT):c.2354-70T>C	noncoding	Benign
2	135812278	C	A	C135812278A	LCT	NM_002299.4(LCT):c.2353+33G>T	noncoding	Benign
2	135813043	A	T	A135813043T	LCT	NM_002299.4(LCT):c.1708-87T>A	noncoding	Benign
2	135813180	T	C	T135813180C	LCT	NM_002299.4(LCT):c.1708-224A>G	noncoding	Benign
2	135817398	G	C	G135817398C	LCT	NM_002299.4(LCT):c.1650C>G:p.Gly550=	coding	Benign/Likely_benign
2	135817431	G	A	G135817431A	LCT	NM_002299.4(LCT):c.1617C>T:p.Thr539=	coding	Benign/Likely_benign
2	135818317	C	A	C135818317A	LCT	NM_002299.4(LCT):c.987-256G>T	noncoding	Benign
2	135821840	A	G	A135821840G	LCT	NM_002299.4(LCT):c.986+180T>C	coding	Benign
2	135823784	T	G	T135823784G	LCT	NM_002299.4(LCT):c.907+117A>C	noncoding	Benign
2	135824115	G	C	G135824115C	LCT	NM_002299.4(LCT):c.805-112C>G	noncoding	Benign
2	135824278	A	G	A135824278G	LCT	NM_002299.4(LCT):c.805-275T>C	noncoding	Benign
2	135829388	C	A	C135829388A	LCT	NM_002299.4(LCT):c.804+205G>T	noncoding	Benign
2	135829668	G	C	G135829668C	LCT	NM_002299.4(LCT):c.729C>G:p.Val243=	coding	Benign/Likely_benign
2	135832988	C	T	C135832988T	LCT	NM_002299.4(LCT):c.720+123G>A	noncoding	Benign
2	135836390	T	C	T135836390C	LCT	NM_002299.4(LCT):c.640+140A>G	noncoding	Benign
2	135836601	G	A	G135836601A	LCT	NM_002299.4(LCT):c.569C>T:p.Ser190Leu	coding	Benign
2	135837353	C	T	C135837353T	LCT	Single_allele	noncoding	Benign
2	135916458	A	G	A135916458G	DARS1	NM_001349.4(DARS1):c.960-86T>C	noncoding	Benign
2	135920349	G	T	G135920349T	DARS1	NM_001349.4(DARS1):c.959+104C>A	noncoding	Benign
2	135920590	C	T	C135920590T	DARS1	NM_001349.4(DARS1):c.822G>A:p.Ala274=	coding	Benign/Likely_benign
2	135922964	A	G	A135922964G	DARS1	NM_001349.4(DARS1):c.677-46T>C	noncoding	Benign
2	135933787	G	A	G135933787A	DARS1	NM_001349.4(DARS1):c.504+123C>T	noncoding	Benign
2	135943357	T	C	T135943357C	DARS1	NM_001349.4(DARS1):c.423+21A>G	noncoding	Benign
2	135961603	A	G	A135961603G	DARS1	NM_001349.4(DARS1):c.218-105T>C	noncoding	Benign
2	135983330	T	C	T135983330C	DARS1	NM_001349.4(DARS1):c.124+67A>G	noncoding	Benign
2	135985369	T	C	T135985369C	DARS1	NM_001349.4(DARS1):c.66+34A>G	coding	Benign
2	135985568	A	G	A135985568G	DARS1	NM_001349.4(DARS1):c.-100T>C	noncoding	Benign
2	135985573	G	C	G135985573C	DARS1	NM_001349.4(DARS1):c.-105C>G	noncoding	Benign
2	136114922	C	A	C136114922A	CXCR4	NM_003467.3(CXCR4):c.1006G>T:p.Gly336Ter	coding	Pathogenic
2	136114983	G	A	G136114983A	CXCR4	NM_003467.3(CXCR4):c.945C>T:p.His315=	coding	Benign
2	136115979	A	T	A136115979T	CXCR4	NM_003467.3(CXCR4):c.16-67T>A	coding	Benign
2	136116434	A	G	A136116434G	CXCR4	NM_003467.3(CXCR4):c.16-522T>C	noncoding	Benign
2	142985142	A	G	A142985142G	KYNU	NM_003937.3(KYNU):c.788A>G:p.His263Arg	coding	Pathogenic
2	143029705	C	T	C143029705T	KYNU	NM_003937.3(KYNU):c.955+26C>T	noncoding	Benign
2	144386933	C	A	C144386933A	ZEB2	NM_014795.4(ZEB2):c.*2518G>T	noncoding	Benign
2	144387459	A	G	A144387459G	ZEB2	NM_014795.4(ZEB2):c.*1992T>C	noncoding	Benign
2	144389456	T	C	T144389456C	ZEB2	NM_014795.4(ZEB2):c.3640A>G:p.Met1214Val	coding	Benign/Likely_benign
2	144389561	T	C	T144389561C	ZEB2	NM_014795.4(ZEB2):c.3535A>G:p.Ile1179Val	coding	Benign
2	144389854	C	T	C144389854T	ZEB2	NM_014795.4(ZEB2):c.3242G>A:p.Cys1081Tyr	coding	Pathogenic
2	144389895	C	T	C144389895T	ZEB2	NM_014795.4(ZEB2):c.3201G>A:p.Ser1067=	coding	Benign/Likely_benign
2	144389942	C	A	C144389942A	ZEB2	NM_014795.4(ZEB2):c.3154G>T:p.Glu1052Ter	coding	Pathogenic
2	144389947	G	C	G144389947C	ZEB2	NM_014795.4(ZEB2):c.3149C>G:p.Ser1050Trp	coding	Pathogenic
2	144390008	G	A	G144390008A	ZEB2	NM_014795.4(ZEB2):c.3088C>T:p.Gln1030Ter	coding	Pathogenic
2	144396486	A	G	A144396486G	ZEB2	NM_014795.4(ZEB2):c.2993T>C:p.Met998Thr	coding	Benign
2	144398300	C	T	C144398300T	ZEB2	NM_014795.4(ZEB2):c.2886+1G>A	noncoding	Pathogenic
2	144398425	C	T	C144398425T	ZEB2	NM_014795.4(ZEB2):c.2762G>A:p.Arg921Gln	coding	Benign/Likely_benign
2	144398646	G	A	G144398646A	ZEB2	NM_014795.4(ZEB2):c.2541C>T:p.Asn847=	coding	Benign/Likely_benign
2	144398730	T	C	T144398730C	ZEB2	NM_014795.4(ZEB2):c.2457A>G:p.Ser819=	coding	Benign/Likely_benign
2	144398939	T	C	T144398939C	ZEB2	NM_014795.4(ZEB2):c.2248A>G:p.Ser750Gly	coding	Benign/Likely_benign
2	144398972	T	C	T144398972C	ZEB2	NM_014795.4(ZEB2):c.2215A>G:p.Ile739Val	coding	Benign/Likely_benign
2	144399131	C	A	C144399131A	ZEB2	NM_014795.4(ZEB2):c.2056G>T:p.Glu686Ter	coding	Pathogenic
2	144399144	C	T	C144399144T	ZEB2	NM_014795.4(ZEB2):c.2043G>A:p.Val681=	coding	Benign
2	144399183	C	A	C144399183A	ZEB2	NM_014795.4(ZEB2):c.2004G>T:p.Glu668Asp	coding	Benign/Likely_benign
2	144399290	C	A	C144399290A	ZEB2	NM_014795.4(ZEB2):c.1897G>T:p.Ala633Ser	coding	Benign
2	144399351	C	T	C144399351T	ZEB2	NM_014795.4(ZEB2):c.1836G>A:p.Ala612=	coding	Benign/Likely_benign
2	144399395	G	A	G144399395A	ZEB2	NM_014795.4(ZEB2):c.1792C>T:p.Gln598Ter	coding	Pathogenic
2	144399452	T	C	T144399452C	ZEB2	NM_014795.4(ZEB2):c.1735A>G:p.Thr579Ala	coding	Benign/Likely_benign
2	144399476	T	C	T144399476C	ZEB2	NM_014795.4(ZEB2):c.1711A>G:p.Met571Val	coding	Benign
2	144399767	G	A	G144399767A	ZEB2	NM_014795.4(ZEB2):c.1420C>T:p.Gln474Ter	coding	Pathogenic
2	144399826	T	A	T144399826A	ZEB2	NM_014795.4(ZEB2):c.1361A>T:p.Asn454Ile	coding	Benign
2	144399833	T	C	T144399833C	ZEB2	NM_014795.4(ZEB2):c.1354A>G:p.Thr452Ala	coding	Benign
2	144399860	T	C	T144399860C	ZEB2	NM_014795.4(ZEB2):c.1327A>G:p.Met443Val	coding	Benign
2	144399881	T	C	T144399881C	ZEB2	NM_014795.4(ZEB2):c.1306A>G:p.Met436Val	coding	Benign/Likely_benign
2	144399925	C	G	C144399925G	ZEB2	NM_014795.4(ZEB2):c.1262G>C:p.Gly421Ala	coding	Benign
2	144399966	G	A	G144399966A	ZEB2	NM_014795.4(ZEB2):c.1221C>T:p.His407=	coding	Benign/Likely_benign
2	144400271	C	T	C144400271T	ZEB2	NM_014795.4(ZEB2):c.917-1G>A	coding	Pathogenic
2	144400294	G	A	G144400294A	ZEB2	NM_014795.4(ZEB2):c.917-24C>T	noncoding	Benign
2	144401198	C	T	C144401198T	ZEB2	NM_014795.4(ZEB2):c.916+1G>A	noncoding	Pathogenic
2	144401241	T	A	T144401241A	ZEB2	NM_014795.4(ZEB2):c.874A>T:p.Lys292Ter	coding	Pathogenic
2	144403954	C	A	C144403954A	ZEB2	NM_014795.4(ZEB2):c.769G>T:p.Glu257Ter	coding	Pathogenic
2	144404011	C	A	C144404011A	ZEB2	NM_014795.4(ZEB2):c.712G>T:p.Glu238Ter	coding	Pathogenic
2	144404027	G	T	G144404027T	ZEB2	NM_014795.4(ZEB2):c.696C>A:p.Tyr232Ter	coding	Pathogenic
2	144404098	G	A	G144404098A	ZEB2	NM_014795.4(ZEB2):c.625C>T:p.Gln209Ter	coding	Pathogenic
2	144404138	C	T	C144404138T	ZEB2	NM_014795.4(ZEB2):c.593-8G>A	noncoding	Benign
2	144404846	T	G	T144404846G	ZEB2	NM_014795.4(ZEB2):c.582A>C:p.Gln194His	coding	Benign
2	144404930	G	T	G144404930T	LOC111721705;ZEB2	NM_014795.4(ZEB2):c.498C>A:p.Tyr166Ter	coding	Pathogenic
2	144424842	A	C	A144424842C	ZEB2	NM_014795.4(ZEB2):c.357T>G:p.Thr119=	coding	Benign
2	144429696	C	G	C144429696G	ZEB2	NM_014795.4(ZEB2):c.331+73G>C	noncoding	Benign
2	144429745	G	A	G144429745A	ZEB2	NM_014795.4(ZEB2):c.331+24C>T	noncoding	Benign
2	144429790	G	A	G144429790A	ZEB2	NM_014795.4(ZEB2):c.310C>T:p.Gln104Ter	coding	Pathogenic
2	144429933	A	G	A144429933G	ZEB2	NM_014795.4(ZEB2):c.167T>C:p.Leu56Pro	coding	Benign/Likely_benign
2	144517272	T	G	T144517272G	ZEB2	NM_014795.4(ZEB2):c.73+6A>C	noncoding	Benign
2	144517277	C	T	C144517277T	ZEB2	NM_014795.4(ZEB2):c.73+1G>A	noncoding	Pathogenic
2	144517296	T	A	T144517296A	ZEB2	NM_014795.4(ZEB2):c.55A>T:p.Asn19Tyr	coding	Benign
2	144517319	C	T	C144517319T	ZEB2	NM_014795.4(ZEB2):c.32G>A:p.Arg11Gln	coding	Benign
2	144517448	G	C	G144517448C	ZEB2	NM_014795.4(ZEB2):c.-69-29C>G	noncoding	Benign
2	144517650	A	T	A144517650T	ZEB2	NM_014795.4(ZEB2):c.-69-231T>A	noncoding	Benign
2	144518148	T	G	T144518148G	ZEB2	NM_014795.4(ZEB2):c.-69-729A>C	noncoding	Benign
2	147935712	G	T	G147935712T	ORC4	NM_181741.4(ORC4):c.1123-14C>A	noncoding	Benign
2	147943538	A	G	A147943538G	ORC4	NM_181741.4(ORC4):c.763-16T>C	noncoding	Benign
2	147948190	G	C	G147948190C	ORC4	NM_181741.4(ORC4):c.623C>G:p.Ser208Ter	coding	Pathogenic
2	147952084	A	G	A147952084G	ORC4	NM_181741.4(ORC4):c.588+289T>C	noncoding	Benign
2	147955373	G	C	G147955373C	ORC4	NM_181741.4(ORC4):c.410C>G:p.Ser137Ter	coding	Pathogenic
2	147958530	G	T	G147958530T	ORC4	NM_181741.4(ORC4):c.302-147C>A	noncoding	Benign
2	147958877	A	C	A147958877C	ORC4	NM_181741.4(ORC4):c.226-11T>G	noncoding	Benign
2	147959141	T	G	T147959141G	ORC4	NM_181741.4(ORC4):c.226-275A>C	noncoding	Benign
2	147973683	T	C	T147973683C	ORC4	NM_181741.4(ORC4):c.58-159A>G	noncoding	Benign
2	147973684	G	A	G147973684A	ORC4	NM_181741.4(ORC4):c.58-160C>T	noncoding	Benign
2	147975784	T	C	T147975784C	ORC4	NM_181741.4(ORC4):c.57+118A>G	noncoding	Benign
2	148178611	A	C	A148178611C	MBD5	NM_001378120.1(MBD5):c.-924-89A>C	noncoding	Benign
2	148233246	A	G	A148233246G	MBD5	NM_001378120.1(MBD5):c.-829A>G	noncoding	Benign
2	148342233	A	T	A148342233T	MBD5	NM_001378120.1(MBD5):c.-660A>T	noncoding	Benign
2	148342533	A	T	A148342533T	MBD5	NM_001378120.1(MBD5):c.-557+197A>T	noncoding	Benign
2	148342583	T	C	T148342583C	MBD5	NM_001378120.1(MBD5):c.-557+247T>C	noncoding	Benign
2	148458867	G	A	G148458867A	MBD5	NM_001378120.1(MBD5):c.109G>A:p.Val37Ile	coding	Benign
2	148462414	T	G	T148462414G	MBD5	NM_001378120.1(MBD5):c.114-168T>G	noncoding	Benign
2	148462648	C	A	C148462648A	MBD5	NM_001378120.1(MBD5):c.180C>A:p.Cys60Ter	coding	Pathogenic
2	148462732	T	A	T148462732A	MBD5	NM_001378120.1(MBD5):c.216+48T>A	noncoding	Benign
2	148463918	A	G	A148463918G	MBD5	NM_001378120.1(MBD5):c.396A>G:p.Thr132=	coding	Benign
2	148468055	C	T	C148468055T	MBD5	NM_001378120.1(MBD5):c.398-286C>T	noncoding	Benign
2	148468541	C	T	C148468541T	MBD5	NM_001378120.1(MBD5):c.598C>T:p.Arg200Ter	coding	Pathogenic
2	148468650	C	G	C148468650G	MBD5	NM_001378120.1(MBD5):c.707C>G:p.Ser236Ter	coding	Pathogenic
2	148469320	A	G	A148469320G	MBD5	NM_001378120.1(MBD5):c.1377A>G:p.Arg459=	coding	Benign
2	148469322	C	A	C148469322A	MBD5	NM_001378120.1(MBD5):c.1379C>A:p.Ser460Ter	coding	Pathogenic
2	148469532	G	A	G148469532A	MBD5	NM_001378120.1(MBD5):c.1589G>A:p.Ser530Asn	coding	Benign/Likely_benign
2	148469854	G	T	G148469854T	MBD5	NM_001378120.1(MBD5):c.1911G>T:p.Gly637=	coding	Benign/Likely_benign
2	148470070	T	A	T148470070A	MBD5	NM_001378120.1(MBD5):c.2127T>A:p.Ser709Arg	coding	Benign
2	148470197	A	G	A148470197G	MBD5	NM_001378120.1(MBD5):c.2254A>G:p.Ile752Val	coding	Benign/Likely_benign
2	148470218	G	A	G148470218A	MBD5	NM_001378120.1(MBD5):c.2275G>A:p.Val759Met	coding	Benign/Likely_benign
2	148470228	A	G	A148470228G	MBD5	NM_001378120.1(MBD5):c.2285A>G:p.His762Arg	coding	Benign
2	148470257	A	C	A148470257C	MBD5	NM_001378120.1(MBD5):c.2314A>C:p.Asn772His	coding	Benign/Likely_benign
2	148470299	C	T	C148470299T	MBD5	NM_001378120.1(MBD5):c.2356C>T:p.Gln786Ter	coding	Pathogenic
2	148470342	G	A	G148470342A	MBD5	NM_001378120.1(MBD5):c.2399G>A:p.Gly800Asp	coding	Benign/Likely_benign
2	148470380	C	T	C148470380T	MBD5	NM_001378120.1(MBD5):c.2437C>T:p.Gln813Ter	coding	Pathogenic/Likely_pathogenic
2	148470508	A	G	A148470508G	MBD5	NM_001378120.1(MBD5):c.2518+47A>G	noncoding	Benign
2	148483112	G	A	G148483112A	MBD5	NM_001378120.1(MBD5):c.2521G>A:p.Gly841Ser	coding	Benign
2	148483115	T	C	T148483115C	MBD5	NM_001378120.1(MBD5):c.2524T>C:p.Ser842Pro	coding	Benign
2	148483196	G	A	G148483196A	MBD5	NM_001378120.1(MBD5):c.2605G>A:p.Val869Ile	coding	Benign/Likely_benign
2	148483703	A	G	A148483703G	MBD5	NM_001378120.1(MBD5):c.3112A>G:p.Ser1038Gly	noncoding	Benign
2	148483760	C	T	C148483760T	MBD5	NM_001378120.1(MBD5):c.3169C>T:p.Pro1057Ser	noncoding	Benign
2	148483798	C	T	C148483798T	MBD5	NM_001378120.1(MBD5):c.3207C>T:p.Asn1069=	noncoding	Benign
2	148485691	G	A	G148485691A	MBD5	NM_001378120.1(MBD5):c.3545-51G>A	noncoding	Benign
2	148485874	A	C	A148485874C	MBD5	NM_001378120.1(MBD5):c.3677A>C:p.Gln1226Pro	coding	Benign/Likely_benign
2	148489422	A	T	A148489422T	MBD5	NM_001378120.1(MBD5):c.3790A>T:p.Arg1264Ter	coding	Pathogenic
2	148489513	C	T	C148489513T	MBD5	NM_001378120.1(MBD5):c.3881C>T:p.Pro1294Leu	coding	Benign/Likely_benign
2	148489539	C	T	C148489539T	MBD5	NM_001378120.1(MBD5):c.3907C>T:p.Gln1303Ter	coding	Pathogenic
2	148489551	G	A	G148489551A	MBD5	NM_001378120.1(MBD5):c.3919G>A:p.Gly1307Ser	coding	Benign/Likely_benign
2	148489557	G	A	G148489557A	MBD5	NM_001378120.1(MBD5):c.3925G>A:p.Val1309Ile	coding	Benign
2	148489716	T	C	T148489716C	MBD5	NM_001378120.1(MBD5):c.4084T>C:p.Ser1362Pro	coding	Benign/Likely_benign
2	148489850	G	A	G148489850A	MBD5	NM_001378120.1(MBD5):c.4218G>A:p.Gly1406=	coding	Benign/Likely_benign
2	148489950	C	T	C148489950T	MBD5	NM_001378120.1(MBD5):c.4318C>T:p.Arg1440Ter	coding	Pathogenic
2	148490217	C	T	C148490217T	MBD5	NM_001378120.1(MBD5):c.4585C>T:p.Arg1529Ter	coding	Pathogenic
2	148490451	G	T	G148490451T	MBD5	NM_001378120.1(MBD5):c.4819G>T:p.Glu1607Ter	coding	Pathogenic
2	148490501	G	A	G148490501A	MBD5	NM_001378120.1(MBD5):c.4869G>A:p.Trp1623Ter	coding	Pathogenic
2	148502300	A	G	A148502300G	MBD5	NM_001378120.1(MBD5):c.4963-136A>G	noncoding	Benign
2	148512864	T	G	T148512864G	MBD5	NM_001378120.1(MBD5):c.5113-6T>G	noncoding	Benign
2	148513141	A	G	A148513141G	MBD5	NM_001378120.1(MBD5):c.*200A>G	noncoding	Benign
2	148875789	C	T	C148875789T	KIF5C	NM_004522.3(KIF5C):c.126+46C>T	noncoding	Benign
2	148922148	A	G	A148922148G	KIF5C	NM_004522.3(KIF5C):c.138A>G:p.Pro46=	coding	Benign
2	148922389	A	T	A148922389T	KIF5C	NM_004522.3(KIF5C):c.217+162A>T	noncoding	Benign
2	148929341	C	T	C148929341T	KIF5C	NM_004522.3(KIF5C):c.278C>T:p.Thr93Ile	coding	Pathogenic
2	148937037	A	C	A148937037C	KIF5C	NM_004522.3(KIF5C):c.292-247A>C	noncoding	Benign
2	148937275	G	A	G148937275A	KIF5C	NM_004522.3(KIF5C):c.292-9G>A	noncoding	Benign
2	148942289	G	T	G148942289T	KIF5C	NM_004522.3(KIF5C):c.501+299G>T	noncoding	Benign
2	148942405	T	A	T148942405A	KIF5C	NM_004522.3(KIF5C):c.502-268T>A	noncoding	Benign
2	148942696	G	A	G148942696A	KIF5C	NM_004522.3(KIF5C):c.525G>A:p.Ser175=	coding	Benign
2	148946592	A	G	A148946592G	KIF5C	NM_004522.3(KIF5C):c.590-307A>G	noncoding	Benign
2	148947017	C	T	C148947017T	KIF5C	NM_004522.3(KIF5C):c.708C>T:p.Ser236=	coding	Benign
2	148949800	C	T	C148949800T	KIF5C	NM_004522.3(KIF5C):c.715-39C>T	noncoding	Benign
2	148950255	C	A	C148950255A	KIF5C	NM_004522.3(KIF5C):c.820-59C>A	noncoding	Benign
2	148950332	C	A	C148950332A	KIF5C	NM_004522.3(KIF5C):c.838C>A:p.Arg280=	coding	Benign
2	148950669	C	T	C148950669T	KIF5C	NM_004522.3(KIF5C):c.968+207C>T	noncoding	Benign
2	148961756	A	G	A148961756G	KIF5C	NM_004522.3(KIF5C):c.969-215A>G	noncoding	Benign
2	148962423	C	T	C148962423T	KIF5C	NM_004522.3(KIF5C):c.1117+304C>T	noncoding	Benign
2	148973289	A	G	A148973289G	KIF5C	NM_004522.3(KIF5C):c.1118-47A>G	noncoding	Benign
2	148973620	G	A	G148973620A	KIF5C	NM_004522.3(KIF5C):c.1293+109G>A	noncoding	Benign
2	148978908	A	T	A148978908T	KIF5C	NM_004522.3(KIF5C):c.1294-14A>T	noncoding	Benign
2	148981518	C	T	C148981518T	KIF5C	NM_004522.3(KIF5C):c.1526C>T:p.Thr509Ile	coding	Benign
2	148997446	A	G	A148997446G	KIF5C	NM_004522.3(KIF5C):c.2100+106A>G	noncoding	Benign
2	148998573	T	C	T148998573C	KIF5C	NM_004522.3(KIF5C):c.2210+64T>C	noncoding	Benign
2	148998651	C	T	C148998651T	KIF5C	NM_004522.3(KIF5C):c.2210+142C>T	noncoding	Benign
2	149000354	C	T	C149000354T	KIF5C	NM_004522.3(KIF5C):c.2211-69C>T	noncoding	Benign
2	149005165	G	A	G149005165A	KIF5C	NM_004522.3(KIF5C):c.2374-228G>A	noncoding	Benign
2	149005413	G	A	G149005413A	KIF5C	NM_004522.3(KIF5C):c.2394G>A:p.Leu798=	coding	Benign
2	149008185	A	G	A149008185G	KIF5C	NM_004522.3(KIF5C):c.2550+118A>G	noncoding	Benign
2	149008281	A	G	A149008281G	KIF5C	NM_004522.3(KIF5C):c.2550+214A>G	noncoding	Benign
2	149009882	G	C	G149009882C	KIF5C	NM_004522.3(KIF5C):c.2551-253G>C	noncoding	Benign
2	149010113	T	C	T149010113C	KIF5C	NM_004522.3(KIF5C):c.2551-22T>C	noncoding	Benign
2	149011273	C	T	C149011273T	KIF5C	NM_004522.3(KIF5C):c.2768-297C>T	noncoding	Benign
2	149011616	C	T	C149011616T	KIF5C	NM_004522.3(KIF5C):c.2814C>T:p.Ala938=	coding	Benign
2	149011722	C	T	C149011722T	KIF5C	NM_004522.3(KIF5C):c.*7+39C>T	noncoding	Benign
2	149011852	C	T	C149011852T	KIF5C	NM_004522.3(KIF5C):c.*7+169C>T	noncoding	Benign
2	149011912	C	T	C149011912T	KIF5C	NM_004522.3(KIF5C):c.*7+229C>T	noncoding	Benign
2	149570019	A	G	A149570019G	MMADHC	NM_015702.3(MMADHC):c.846T>C:p.Asn282=	coding	Benign
2	149571002	C	T	C149571002T	MMADHC	NM_015702.3(MMADHC):c.696+83G>A	noncoding	Benign
2	149571089	A	T	A149571089T	MMADHC	NM_015702.3(MMADHC):c.692T>A:p.Leu231Ter	coding	Pathogenic
2	149571118	C	T	C149571118T	MMADHC	NM_015702.3(MMADHC):c.663G>A:p.Trp221Ter	coding	Pathogenic
2	149575863	C	G	C149575863G	MMADHC	NM_015702.3(MMADHC):c.479-22G>C	noncoding	Benign/Likely_benign
2	149575955	G	T	G149575955T	MMADHC	NM_015702.3(MMADHC):c.479-114C>A	noncoding	Benign
2	149576303	C	T	C149576303T	MMADHC	NM_015702.3(MMADHC):c.478+134G>A	noncoding	Benign
2	149576482	T	A	T149576482A	MMADHC	NM_015702.3(MMADHC):c.433A>T:p.Arg145Ter	coding	Pathogenic
2	149576614	C	G	C149576614G	MMADHC	NM_015702.3(MMADHC):c.373-72G>C	noncoding	Benign
2	149579188	T	G	T149579188G	MMADHC	NM_015702.3(MMADHC):c.372+243A>C	noncoding	Benign
2	149579451	G	A	G149579451A	MMADHC	NM_015702.3(MMADHC):c.352C>T:p.Gln118Ter	coding	Pathogenic
2	149582301	G	A	G149582301A	MMADHC	NM_015702.3(MMADHC):c.10-30C>T	noncoding	Benign
2	149587075	G	A	G149587075A	MMADHC	NM_015702.3(MMADHC):c.9+14C>T	noncoding	Benign/Likely_benign
2	149587175	C	G	C149587175G	MMADHC	NM_015702.3(MMADHC):c.-52-26G>C	noncoding	Benign
2	149587299	C	T	C149587299T	MMADHC	NM_015702.3(MMADHC):c.-52-150G>A	noncoding	Benign
2	151490042	G	A	G151490042A	NEB	NM_001164508.2(NEB):c.25333C>T:p.Gln8445Ter	coding	Pathogenic
2	151490045	G	A	G151490045A	NEB	NM_001164508.2(NEB):c.25330C>T:p.Gln8444Ter	coding	Pathogenic
2	151490403	G	T	G151490403T	NEB	NM_001164508.2(NEB):c.25266C>A:p.Tyr8422Ter	coding	Pathogenic
2	151490488	G	T	G151490488T	NEB	NM_001164508.2(NEB):c.25181C>A:p.Ser8394Ter	coding	Pathogenic
2	151491704	G	A	G151491704A	NEB	NM_001164508.2(NEB):c.25129C>T:p.Arg8377Ter	coding	Pathogenic
2	151492152	T	A	T151492152A	NEB	NM_001164508.2(NEB):c.25003A>T:p.Lys8335Ter	coding	Pathogenic
2	151492167	G	A	G151492167A	NEB	NM_001164508.2(NEB):c.24988C>T:p.Arg8330Ter	coding	Pathogenic
2	151492209	G	A	G151492209A	NEB	NM_001164508.2(NEB):c.24946C>T:p.Arg8316Ter	coding	Pathogenic
2	151492444	A	C	A151492444C	NEB	NM_001164508.2(NEB):c.24816T>G:p.Tyr8272Ter	coding	Pathogenic
2	151492495	C	G	C151492495G	NEB	NM_001164508.2(NEB):c.24766-1G>C	coding	Pathogenic
2	151493948	T	C	T151493948C	NEB	NM_001164508.2(NEB):c.24580-81A>G	noncoding	Benign
2	151494265	C	A	C151494265A	NEB	NM_001164508.2(NEB):c.24487-12G>T	noncoding	Benign
2	151496881	T	G	T151496881G	NEB	NM_001164508.2(NEB):c.24393+60A>C	noncoding	Benign
2	151497681	A	T	A151497681T	NEB	NM_001164508.2(NEB):c.24245T>A:p.Leu8082Ter	coding	Pathogenic
2	151497714	A	T	A151497714T	NEB	NM_001164508.2(NEB):c.24212T>A:p.Leu8071Ter	coding	Pathogenic/Likely_pathogenic
2	151498243	C	G	C151498243G	NEB	NM_001164508.2(NEB):c.24207+17G>C	noncoding	Benign/Likely_benign
2	151499299	G	T	G151499299T	NEB	NM_001164508.2(NEB):c.24113C>A:p.Ser8038Ter	coding	Pathogenic/Likely_pathogenic
2	151507991	T	G	T151507991G	NEB	NM_001164508.2(NEB):c.23451+14A>C	noncoding	Benign
2	151508071	A	C	A151508071C	NEB	NM_001164508.2(NEB):c.23385T>G:p.Tyr7795Ter	coding	Pathogenic
2	151512720	C	T	C151512720T	NEB	NM_001164508.2(NEB):c.23346+13G>A	noncoding	Benign/Likely_benign
2	151512735	G	A	G151512735A	NEB	NM_001164508.2(NEB):c.23344C>T:p.Gln7782Ter	coding	Pathogenic
2	151513564	G	A	G151513564A	NEB	NM_001164508.2(NEB):c.23241+16C>T	noncoding	Benign/Likely_benign
2	151516551	C	A	C151516551A	NEB	NM_001164508.2(NEB):c.22813G>T:p.Glu7605Ter	coding	Pathogenic
2	151519759	G	A	G151519759A	NEB	NM_001164508.2(NEB):c.22489C>T:p.Arg7497Ter	coding	Pathogenic/Likely_pathogenic
2	151525381	G	A	G151525381A	NEB	NM_001164508.2(NEB):c.22162-108C>T	noncoding	Benign
2	151526145	G	A	G151526145A	NEB	NM_001164508.2(NEB):c.22050+13C>T	noncoding	Benign/Likely_benign
2	151527399	T	C	T151527399C	NEB	NM_001164508.2(NEB):c.21840+82A>G	noncoding	Benign
2	151527492	G	A	G151527492A	NEB	NM_001164508.2(NEB):c.21829C>T:p.Gln7277Ter	coding	Pathogenic
2	151527528	G	A	G151527528A	NEB	NM_001164508.2(NEB):c.21793C>T:p.Arg7265Ter	coding	Pathogenic/Likely_pathogenic
2	151527570	G	A	G151527570A	NEB	NM_001164508.2(NEB):c.21751C>T:p.Gln7251Ter	coding	Pathogenic
2	151531714	G	C	G151531714C	NEB	NM_001164508.2(NEB):c.21522+78C>G	noncoding	Benign
2	151534226	G	A	G151534226A	NEB	NM_001164507.2(NEB):c.21406C>T:p.Gln7136Ter	coding	Pathogenic
2	151538142	T	A	T151538142A	NEB	NM_001164508.2(NEB):c.20995A>T:p.Lys6999Ter	coding	Pathogenic
2	151538203	G	T	G151538203T	NEB	NM_001164508.2(NEB):c.20934C>A:p.Tyr6978Ter	coding	Pathogenic
2	151541434	C	T	C151541434T	NEB	NM_001164508.2(NEB):c.20682+13G>A	noncoding	Benign/Likely_benign
2	151541470	G	A	G151541470A	NEB	NM_001164508.2(NEB):c.20659C>T:p.Arg6887Ter	coding	Pathogenic/Likely_pathogenic
2	151545911	C	A	C151545911A	NEB	NM_001164508.2(NEB):c.20554G>T:p.Glu6852Ter	coding	Pathogenic/Likely_pathogenic
2	151546500	C	T	C151546500T	NEB	NM_001164508.2(NEB):c.20368-57G>A	noncoding	Benign
2	151547413	C	G	C151547413G	NEB	NM_001164508.2(NEB):c.20367+16G>C	noncoding	Benign/Likely_benign
2	151551857	A	G	A151551857G	NEB	NM_001164508.2(NEB):c.19837-12T>C	noncoding	Benign
2	151552671	C	T	C151552671T	NEB	NM_001164508.2(NEB):c.19836+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	151553295	C	A	C151553295A	NEB	NM_001164508.2(NEB):c.19731+103G>T	noncoding	Benign
2	151553476	C	T	C151553476T	NEB	NM_001164508.2(NEB):c.19653G>A:p.Trp6551Ter	coding	Pathogenic
2	151553494	G	C	G151553494C	NEB	NM_001164508.2(NEB):c.19635C>G:p.Tyr6545Ter	coding	Pathogenic
2	151553494	G	T	G151553494T	NEB	NM_001164508.2(NEB):c.19635C>A:p.Tyr6545Ter	coding	Pathogenic
2	151555033	C	G	C151555033G	NEB	NM_001164508.2(NEB):c.19326G>C:p.Arg6442=	coding	Benign
2	151560612	G	A	G151560612A	NEB	NM_001164508.2(NEB):c.19294C>T:p.Gln6432Ter	coding	Pathogenic
2	151561054	C	A	C151561054A	NEB	NM_001164508.2(NEB):c.19156G>T:p.Glu6386Ter	coding	Pathogenic/Likely_pathogenic
2	151561109	C	A	C151561109A	NEB	NM_001164508.2(NEB):c.19102-1G>T	coding	Pathogenic
2	151561231	G	A	G151561231A	NEB	NM_001164508.2(NEB):c.19078C>T:p.Gln6360Ter	coding	Pathogenic
2	151562125	G	T	G151562125T	NEB	NM_001164508.2(NEB):c.18981C>A:p.Tyr6327Ter	coding	Pathogenic
2	151562209	C	A	C151562209A	NEB	NM_001164508.2(NEB):c.18897G>T:p.Val6299=	coding	Benign
2	151562610	C	T	C151562610T	NEB	NM_001164508.2(NEB):c.18891+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	151562674	C	T	C151562674T	NEB	NM_001164508.2(NEB):c.18828G>A:p.Trp6276Ter	coding	Pathogenic
2	151562716	G	C	G151562716C	NEB	NM_001164508.2(NEB):c.18786C>G:p.Tyr6262Ter	coding	Pathogenic
2	151562788	A	C	A151562788C	NEB	NM_001164508.2(NEB):c.18714T>G:p.Tyr6238Ter	coding	Pathogenic
2	151565423	A	G	A151565423G	NEB	NM_001164508.2(NEB):c.18366+78T>C	noncoding	Benign
2	151565597	A	T	A151565597T	NEB	NM_001164508.2(NEB):c.18270T>A:p.Tyr6090Ter	coding	Pathogenic
2	151566946	A	T	A151566946T	NEB	NM_001164508.2(NEB):c.18156+222T>A	noncoding	Benign
2	151567151	A	C	A151567151C	NEB	NM_001164508.2(NEB):c.18156+17T>G	noncoding	Benign
2	151567284	G	A	G151567284A	NEB	NM_001164508.2(NEB):c.18040C>T:p.Gln6014Ter	coding	Pathogenic
2	151567335	T	A	T151567335A	NEB	NM_001164508.2(NEB):c.17989A>T:p.Lys5997Ter	coding	Pathogenic
2	151568398	C	T	C151568398T	NEB	NM_001164508.2(NEB):c.17654G>A:p.Trp5885Ter	coding	Pathogenic
2	151569178	T	C	T151569178C	NEB	NM_001164508.2(NEB):c.17535+90A>G	noncoding	Benign
2	151570138	G	T	G151570138T	NEB	NM_001164508.2(NEB):c.17373C>A:p.Cys5791Ter	coding	Pathogenic
2	151570278	G	A	G151570278A	NEB	NM_001164508.2(NEB):c.17233C>T:p.Arg5745Ter	coding	Pathogenic
2	151570287	G	A	G151570287A	NEB	NM_001164508.2(NEB):c.17224C>T:p.Gln5742Ter	coding	Pathogenic
2	151575800	C	T	C151575800T	NEB	NM_001164508.2(NEB):c.16909-1G>A	coding	Pathogenic
2	151575967	G	A	G151575967A	NEB	NM_001164508.2(NEB):c.16909-168C>T	noncoding	Benign
2	151579372	A	G	A151579372G	NEB	NM_001164508.2(NEB):c.16670T>C:p.Ile5557Thr	coding	Benign
2	151593174	A	G	A151593174G	NEB	NM_001164508.2(NEB):c.14563T>C:p.Leu4855=	coding	Benign
2	151600631	G	C	G151600631C	NEB	NM_001164508.2(NEB):c.13599C>G:p.Tyr4533Ter	coding	Pathogenic
2	151600726	G	A	G151600726A	NEB	NM_001164508.2(NEB):c.13504C>T:p.Gln4502Ter	coding	Pathogenic
2	151601988	C	T	C151601988T	NEB	NM_001164508.2(NEB):c.13389G>A:p.Trp4463Ter	coding	Pathogenic
2	151602670	C	A	C151602670A	NEB	NM_001164508.2(NEB):c.13285G>T:p.Glu4429Ter	coding	Pathogenic
2	151603659	A	T	A151603659T	NEB	NM_001164508.2(NEB):c.13173T>A:p.Tyr4391Ter	coding	Pathogenic
2	151603675	A	T	A151603675T	NEB	NM_001164508.2(NEB):c.13157T>A:p.Leu4386Ter	coding	Pathogenic
2	151603729	C	T	C151603729T	NEB	NM_001164508.2(NEB):c.13103G>A:p.Trp4368Ter	coding	Pathogenic
2	151603733	C	A	C151603733A	NEB	NM_001164508.2(NEB):c.13099G>T:p.Gly4367Ter	coding	Pathogenic
2	151603747	C	T	C151603747T	NEB	NM_001164508.2(NEB):c.13085G>A:p.Trp4362Ter	coding	Pathogenic
2	151604623	C	T	C151604623T	NEB	NM_001164508.2(NEB):c.12996G>A:p.Trp4332Ter	coding	Pathogenic
2	151606694	C	T	C151606694T	NEB	NM_001164508.2(NEB):c.12659G>A:p.Trp4220Ter	coding	Pathogenic
2	151608484	G	A	G151608484A	NEB	NM_001164508.2(NEB):c.12523C>T:p.Gln4175Ter	coding	Pathogenic
2	151608613	C	A	C151608613A	NEB	NM_001164508.2(NEB):c.12394G>T:p.Glu4132Ter	coding	Pathogenic
2	151608633	C	T	C151608633T	NEB	NM_001164508.2(NEB):c.12374G>A:p.Trp4125Ter	coding	Pathogenic
2	151608651	C	T	C151608651T	NEB	NM_001164508.2(NEB):c.12356G>A:p.Trp4119Ter	coding	Pathogenic
2	151609877	C	A	C151609877A	NEB	NM_001164508.2(NEB):c.12262G>T:p.Glu4088Ter	coding	Pathogenic
2	151610640	A	G	A151610640G	NEB	NM_001164508.2(NEB):c.11911-17T>C	noncoding	Benign/Likely_benign
2	151612381	G	T	G151612381T	NEB	NM_001164508.2(NEB):c.11610C>A:p.Tyr3870Ter	coding	Pathogenic
2	151614452	C	A	C151614452A	NEB	NM_001164508.2(NEB):c.11425G>T:p.Glu3809Ter	coding	Pathogenic
2	151615903	C	T	C151615903T	NEB	NM_001164508.2(NEB):c.11289+99G>A	noncoding	Benign
2	151616014	A	G	A151616014G	NEB	NM_001164508.2(NEB):c.11277T>C:p.Asp3759=	coding	Benign
2	151619514	C	T	C151619514T	NEB	NM_001164508.2(NEB):c.10809G>A:p.Trp3603Ter	coding	Pathogenic
2	151619636	T	A	T151619636A	NEB	NM_001164508.2(NEB):c.10687A>T:p.Lys3563Ter	coding	Pathogenic
2	151625463	A	G	A151625463G	NEB	NM_001164508.2(NEB):c.10452+71T>C	noncoding	Benign
2	151625575	C	A	C151625575A	NEB	NM_001164508.2(NEB):c.10411G>T:p.Glu3471Ter	coding	Pathogenic
2	151626984	T	C	T151626984C	NEB	NM_001164508.2(NEB):c.10347+18A>G	noncoding	Benign/Likely_benign
2	151627826	G	C	G151627826C	NEB	NM_001164508.2(NEB):c.9840C>G:p.Tyr3280Ter	coding	Pathogenic
2	151630820	C	T	C151630820T	NEB	NM_001164508.2(NEB):c.9619-1G>A	coding	Pathogenic/Likely_pathogenic
2	151631181	G	A	G151631181A	NEB	NM_001164508.2(NEB):c.9580C>T:p.Gln3194Ter	coding	Pathogenic
2	151631229	G	A	G151631229A	NEB	NM_001164508.2(NEB):c.9532C>T:p.Gln3178Ter	coding	Pathogenic
2	151631256	C	A	C151631256A	NEB	NM_001164508.2(NEB):c.9505G>T:p.Glu3169Ter	coding	Pathogenic
2	151631333	G	C	G151631333C	NEB	NM_001164508.2(NEB):c.9428C>G:p.Ser3143Ter	coding	Pathogenic/Likely_pathogenic
2	151639943	G	A	G151639943A	NEB	NM_001164508.2(NEB):c.8803C>T:p.Gln2935Ter	coding	Pathogenic
2	151642561	C	T	C151642561T	NEB	NM_001164508.2(NEB):c.8373+13G>A	noncoding	Benign/Likely_benign
2	151642987	T	A	T151642987A	NEB	NM_001164508.2(NEB):c.8161-118A>T	noncoding	Benign
2	151643066	C	T	C151643066T	NEB	NM_001164508.2(NEB):c.8160+84G>A	noncoding	Benign
2	151643505	G	A	G151643505A	NEB	NM_001164508.2(NEB):c.7957-152C>T	noncoding	Benign
2	151644127	G	C	G151644127C	NEB	NM_001164508.2(NEB):c.7647C>G:p.Tyr2549Ter	coding	Pathogenic/Likely_pathogenic
2	151650380	C	T	C151650380T	NEB	NM_001164508.2(NEB):c.7228-1G>A	coding	Pathogenic/Likely_pathogenic
2	151650582	G	A	G151650582A	NEB	NM_001164508.2(NEB):c.7219C>T:p.Gln2407Ter	coding	Pathogenic
2	151650638	C	T	C151650638T	NEB	NM_001164508.2(NEB):c.7163G>A:p.Trp2388Ter	coding	Pathogenic
2	151650649	G	T	G151650649T	NEB	NM_001164508.2(NEB):c.7152C>A:p.Tyr2384Ter	coding	Pathogenic
2	151650864	G	A	G151650864A	NEB	NM_001164508.2(NEB):c.6937C>T:p.Arg2313Ter	coding	Pathogenic/Likely_pathogenic
2	151654110	A	G	A151654110G	NEB	NM_001164508.2(NEB):c.6808-11T>C	noncoding	Benign/Likely_benign
2	151656444	A	C	A151656444C	NEB	NM_001164508.2(NEB):c.6204T>G:p.Tyr2068Ter	coding	Pathogenic
2	151658092	T	G	T151658092G	NEB	NM_001164508.2(NEB):c.6076-2A>C	noncoding	Pathogenic
2	151663267	C	T	C151663267T	NEB	NM_001164508.2(NEB):c.5763+281G>A	noncoding	Benign
2	151663724	C	A	C151663724A	NEB	NM_001164508.2(NEB):c.5587G>T:p.Glu1863Ter	coding	Pathogenic
2	151663754	G	A	G151663754A	NEB	NM_001164508.2(NEB):c.5557C>T:p.Gln1853Ter	coding	Pathogenic
2	151664564	A	T	A151664564T	NEB	NM_001164508.2(NEB):c.5388T>A:p.Tyr1796Ter	coding	Pathogenic
2	151664754	C	T	C151664754T	NEB	NM_001164508.2(NEB):c.5343+5G>A	noncoding	Pathogenic
2	151664793	A	T	A151664793T	NEB	NM_001164508.2(NEB):c.5309T>A:p.Leu1770Ter	coding	Pathogenic/Likely_pathogenic
2	151664844	C	T	C151664844T	NEB	NM_001164508.2(NEB):c.5258G>A:p.Trp1753Ter	coding	Pathogenic
2	151665346	A	C	A151665346C	NEB	NM_001164508.2(NEB):c.5225T>G:p.Leu1742Arg	coding	Benign/Likely_benign
2	151665554	A	G	A151665554G	NEB	NM_001164508.2(NEB):c.5032-15T>C	noncoding	Benign/Likely_benign
2	151666278	T	A	T151666278A	NEB	NM_001164508.2(NEB):c.4843A>T:p.Lys1615Ter	coding	Pathogenic
2	151666279	G	C	G151666279C	NEB	NM_001164508.2(NEB):c.4842C>G:p.Tyr1614Ter	coding	Pathogenic
2	151666381	G	T	G151666381T	NEB	NM_001164508.2(NEB):c.4740C>A:p.Tyr1580Ter	coding	Pathogenic
2	151666419	G	A	G151666419A	NEB	NM_001164508.2(NEB):c.4720-18C>T	noncoding	Benign/Likely_benign
2	151668957	A	G	A151668957G	NEB	NM_001164508.2(NEB):c.4611+70T>C	noncoding	Benign
2	151671182	C	T	C151671182T	NEB	NM_001164508.2(NEB):c.4347G>A:p.Trp1449Ter	coding	Pathogenic
2	151672536	T	A	T151672536A	NEB	NM_001164508.2(NEB):c.4132A>T:p.Lys1378Ter	coding	Pathogenic
2	151672672	G	C	G151672672C	NEB	NM_001164508.2(NEB):c.3996C>G:p.Tyr1332Ter	coding	Pathogenic
2	151677738	T	A	T151677738A	NEB	NM_001164508.2(NEB):c.3601A>T:p.Lys1201Ter	coding	Pathogenic
2	151679981	G	C	G151679981C	NEB	NM_001164508.2(NEB):c.3084C>G:p.Tyr1028Ter	coding	Pathogenic
2	151684835	G	T	G151684835T	NEB	NM_001164508.2(NEB):c.2778C>A:p.Tyr926Ter	coding	Pathogenic
2	151684954	C	A	C151684954A	NEB	NM_001164508.2(NEB):c.2659G>T:p.Glu887Ter	coding	Pathogenic/Likely_pathogenic
2	151687402	T	C	T151687402C	NEB	NM_001164508.2(NEB):c.2637+17A>G	noncoding	Benign/Likely_benign
2	151687606	G	C	G151687606C	NEB	NM_001164508.2(NEB):c.2523+20C>G	noncoding	Benign
2	151687674	G	A	G151687674A	NEB	NM_001164508.2(NEB):c.2475C>T:p.Asp825=	coding	Benign/Likely_benign
2	151688291	C	T	C151688291T	NEB	NM_001164508.2(NEB):c.2415+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	151690826	C	T	C151690826T	NEB	NM_001164508.2(NEB):c.2212-1G>A	coding	Pathogenic
2	151692260	C	T	C151692260T	NEB	NM_001164508.2(NEB):c.1998+1G>A	noncoding	Pathogenic
2	151692378	T	C	T151692378C	NEB	NM_001164508.2(NEB):c.1897-16A>G	noncoding	Benign/Likely_benign
2	151694696	G	A	G151694696A	NEB	NM_001164508.2(NEB):c.1675-67C>T	noncoding	Benign
2	151696669	G	A	G151696669A	NEB	NM_001164508.2(NEB):c.1537C>T:p.Gln513Ter	coding	Pathogenic
2	151697147	C	T	C151697147T	NEB	NM_001164508.2(NEB):c.1470+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	151697449	A	T	A151697449T	NEB	NM_001164508.2(NEB):c.1266T>A:p.Tyr422Ter	coding	Pathogenic
2	151697531	T	A	T151697531A	NEB	NM_001164508.2(NEB):c.1257+13A>T	noncoding	Benign/Likely_benign
2	151706950	A	T	A151706950T	NEB	NM_001164508.2(NEB):c.1083T>A:p.Tyr361Ter	coding	Pathogenic
2	151709640	G	T	G151709640T	NEB	NM_001164508.2(NEB):c.1035+16C>A	noncoding	Benign/Likely_benign
2	151709764	C	T	C151709764T	NEB	NM_001164508.2(NEB):c.928-1G>A	coding	Pathogenic
2	151724259	C	T	C151724259T	NEB	NM_001164508.2(NEB):c.612+1G>A	noncoding	Pathogenic
2	151724872	C	T	C151724872T	NEB	NM_001164508.2(NEB):c.492G>A:p.Ser164=	coding	Benign
2	151725352	T	C	T151725352C	NEB	NM_001164508.2(NEB):c.402+101A>G	noncoding	Benign
2	151727639	A	C	A151727639C	NEB	NM_001164508.2(NEB):c.294+52T>G	noncoding	Benign
2	151727690	C	T	C151727690T	NEB	NM_001164508.2(NEB):c.294+1G>A	noncoding	Pathogenic
2	151727810	G	A	G151727810A	NEB	NM_001164508.2(NEB):c.175C>T:p.Gln59Ter	coding	Pathogenic
2	151883332	G	A	G151883332A	CACNB4	NM_000726.5(CACNB4):c.186C>T:p.Ser62=	coding	Benign/Likely_benign
2	152098317	C	T	C152098317T	CACNB4	NM_000726.5(CACNB4):c.147+13G>A	noncoding	Benign
2	152098471	G	C	G152098471C	CACNB4	NM_000726.5(CACNB4):c.64-58C>G	noncoding	Benign
2	152521945	T	C	T152521945C	FMNL2	NM_052905.4(FMNL2):c.120T>C:p.Asn40=	coding	Benign
2	156328430	C	A	C156328430A	NR4A2	NM_006186.4(NR4A2):c.968G>T:p.Cys323Phe	coding	Pathogenic
2	156328442	C	T	C156328442T	NR4A2	NM_006186.4(NR4A2):c.956G>A:p.Arg319Gln	coding	Pathogenic
2	156328484	C	T	C156328484T	NR4A2	NM_006186.4(NR4A2):c.914G>A:p.Cys305Tyr	coding	Pathogenic
2	156328502	C	A	C156328502A	NR4A2	NM_006186.4(NR4A2):c.896G>T:p.Cys299Phe	coding	Pathogenic
2	156329348	C	T	C156329348T	NR4A2	NM_006186.4(NR4A2):c.839G>A:p.Cys280Tyr	coding	Pathogenic
2	157533956	T	C	T157533956C	ACVR1C	NM_145259.3(ACVR1C):c.1444A>G:p.Ile482Val	coding	Benign
2	157534114	C	T	C157534114T	ACVR1C	NM_145259.3(ACVR1C):c.1357-71G>A	noncoding	Benign
2	157538301	T	C	T157538301C	ACVR1C	NM_145259.3(ACVR1C):c.1356+272A>G	noncoding	Benign
2	157538407	T	C	T157538407C	ACVR1C	NM_145259.3(ACVR1C):c.1356+166A>G	noncoding	Benign
2	157538567	C	G	C157538567G	ACVR1C	NM_145259.3(ACVR1C):c.1356+6G>C	noncoding	Benign
2	157538753	A	G	A157538753G	ACVR1C	NM_145259.3(ACVR1C):c.1226-50T>C	noncoding	Benign
2	157542526	G	C	G157542526C	ACVR1C	NM_145259.3(ACVR1C):c.1100+180C>G	noncoding	Benign
2	157542998	T	A	T157542998A	ACVR1C	NM_145259.3(ACVR1C):c.944-136A>T	noncoding	Benign
2	157543002	G	T	G157543002T	ACVR1C	NM_145259.3(ACVR1C):c.944-140C>A	noncoding	Benign
2	157543065	G	A	G157543065A	ACVR1C	NM_145259.3(ACVR1C):c.944-203C>T	noncoding	Benign
2	157544396	C	T	C157544396T	ACVR1C	NM_145259.3(ACVR1C):c.943+49G>A	noncoding	Benign
2	157544625	T	C	T157544625C	ACVR1C	NM_145259.3(ACVR1C):c.776-13A>G	noncoding	Benign
2	157556030	T	C	T157556030C	ACVR1C	NM_145259.3(ACVR1C):c.544+63A>G	noncoding	Benign
2	157556366	A	G	A157556366G	ACVR1C	NM_145259.3(ACVR1C):c.305-34T>C	noncoding	Benign
2	157628563	G	T	G157628563T	ACVR1C	NM_145259.3(ACVR1C):c.73+9C>A	noncoding	Benign
2	157737803	C	T	C157737803T	ACVR1	NM_001111067.4(ACVR1):c.1396-138G>A	noncoding	Benign
2	157737896	T	C	T157737896C	ACVR1	NM_001111067.4(ACVR1):c.1396-231A>G	noncoding	Benign
2	157738433	T	C	T157738433C	ACVR1	NM_001111067.4(ACVR1):c.1395+7A>G	noncoding	Benign
2	157761302	A	G	A157761302G	ACVR1	NM_001111067.4(ACVR1):c.1067-225T>C	noncoding	Benign
2	157773907	A	T	A157773907T	ACVR1	NM_001111067.4(ACVR1):c.643+181T>A	noncoding	Benign
2	157773922	A	C	A157773922C	ACVR1	NM_001111067.4(ACVR1):c.643+166T>G	noncoding	Benign
2	157773954	T	C	T157773954C	ACVR1	NM_001111067.4(ACVR1):c.643+134A>G	noncoding	Benign
2	157774299	G	A	G157774299A	ACVR1	NM_001111067.4(ACVR1):c.544-112C>T	noncoding	Benign
2	157778539	A	G	A157778539G	ACVR1	NM_001111067.4(ACVR1):c.332-197T>C	noncoding	Benign
2	157780625	A	G	A157780625G	ACVR1	NM_001111067.4(ACVR1):c.68-25T>C	noncoding	Benign
2	157780626	A	G	A157780626G	ACVR1	NM_001111067.4(ACVR1):c.68-26T>C	noncoding	Benign
2	157780921	G	A	G157780921A	ACVR1	NM_001111067.4(ACVR1):c.68-321C>T	noncoding	Benign
2	157799235	A	T	A157799235T	ACVR1	NM_001111067.4(ACVR1):c.67+192T>A	noncoding	Benign
2	158532879	C	T	C158532879T	PKP4	NM_003628.6(PKP4):c.-5-301C>T	noncoding	Benign
2	158533250	C	T	C158533250T	PKP4	NM_003628.6(PKP4):c.66C>T:p.Ala22=	coding	Benign
2	158577156	A	G	A158577156G	PKP4	NM_003628.6(PKP4):c.133-115A>G	noncoding	Benign
2	158603293	T	G	T158603293G	PKP4	NM_003628.6(PKP4):c.280+189T>G	noncoding	Benign
2	158603351	A	G	A158603351G	PKP4	NM_003628.6(PKP4):c.280+247A>G	noncoding	Benign
2	158631581	G	A	G158631581A	PKP4	NM_003628.6(PKP4):c.1154-172G>A	noncoding	Benign
2	158631592	C	G	C158631592G	PKP4	NM_003628.6(PKP4):c.1154-161C>G	noncoding	Benign
2	158633944	C	A	C158633944A	PKP4	NM_003628.6(PKP4):c.1343-126C>A	noncoding	Benign
2	158634444	T	G	T158634444G	PKP4	NM_003628.6(PKP4):c.1562+155T>G	noncoding	Benign
2	158634520	A	T	A158634520T	PKP4	NM_003628.6(PKP4):c.1562+231A>T	noncoding	Benign
2	158640588	A	G	A158640588G	PKP4	NM_003628.6(PKP4):c.1563-39A>G	noncoding	Benign
2	158642338	A	G	A158642338G	PKP4	NM_003628.6(PKP4):c.1696-148A>G	noncoding	Benign
2	158642428	A	T	A158642428T	PKP4	NM_003628.6(PKP4):c.1696-58A>T	noncoding	Benign
2	158642435	C	T	C158642435T	PKP4	NM_003628.6(PKP4):c.1696-51C>T	noncoding	Benign
2	158642776	T	C	T158642776C	PKP4	NM_003628.6(PKP4):c.1909+77T>C	noncoding	Benign
2	158642790	G	A	G158642790A	PKP4	NM_003628.6(PKP4):c.1909+91G>A	noncoding	Benign
2	158642838	G	A	G158642838A	PKP4	NM_003628.6(PKP4):c.1909+139G>A	noncoding	Benign
2	158658300	G	A	G158658300A	PKP4	NM_003628.6(PKP4):c.2079G>A:p.Thr693=	coding	Benign/Likely_benign
2	158661195	T	G	T158661195G	PKP4	NM_003628.6(PKP4):c.2094-138T>G	noncoding	Benign
2	158661345	C	T	C158661345T	PKP4	NM_003628.6(PKP4):c.2106C>T:p.Ser702=	coding	Benign/Likely_benign
2	158662856	G	A	G158662856A	PKP4	NM_003628.6(PKP4):c.2212-41G>A	noncoding	Benign
2	158663573	G	C	G158663573C	PKP4	NM_003628.6(PKP4):c.2577+128G>C	noncoding	Benign
2	158666367	C	G	C158666367G	PKP4	NM_003628.6(PKP4):c.2578-46C>G	noncoding	Benign
2	158669418	C	T	C158669418T	PKP4	NM_003628.6(PKP4):c.2729-302C>T	noncoding	Benign
2	158669448	A	G	A158669448G	PKP4	NM_003628.6(PKP4):c.2729-272A>G	noncoding	Benign
2	158669676	C	G	C158669676G	PKP4	NM_003628.6(PKP4):c.2729-44C>G	noncoding	Benign
2	158669949	C	T	C158669949T	PKP4	NM_003628.6(PKP4):c.2924+34C>T	noncoding	Benign
2	158673376	T	A	T158673376A	PKP4	NM_003628.6(PKP4):c.2925-301T>A	noncoding	Benign
2	158674139	A	T	A158674139T	PKP4	NM_003628.6(PKP4):c.3127+139A>T	noncoding	Benign
2	158676505	G	A	G158676505A	PKP4	NM_003628.6(PKP4):c.3128-234G>A	noncoding	Benign
2	158678351	A	G	A158678351G	PKP4	NM_003628.6(PKP4):c.3257-230A>G	noncoding	Benign
2	158678362	C	T	C158678362T	PKP4	NM_003628.6(PKP4):c.3257-219C>T	noncoding	Benign
2	158678377	C	T	C158678377T	PKP4	NM_003628.6(PKP4):c.3257-204C>T	noncoding	Benign
2	159230142	C	T	C159230142T	TANC1	NM_033394.3(TANC1):c.4716C>T:p.Ala1572=	coding	Benign
2	159230143	A	G	A159230143G	TANC1	NM_033394.3(TANC1):c.4717A>G:p.Thr1573Ala	coding	Benign
2	159230181	A	G	A159230181G	TANC1	NM_033394.3(TANC1):c.4755A>G:p.Thr1585=	coding	Benign
2	159433068	G	A	G159433068A	BAZ2B	NM_013450.4(BAZ2B):c.1589C>T:p.Pro530Leu	coding	Benign
2	159951564	C	T	C159951564T	PLA2R1	NM_007366.5(PLA2R1):c.3316G>A:p.Gly1106Ser	coding	Benign
2	159987237	T	G	T159987237G	PLA2R1	NM_007366.5(PLA2R1):c.1956A>C:p.Lys652Asn	coding	Benign
2	160028907	G	C	G160028907C	PLA2R1	NM_007366.5(PLA2R1):c.898C>G:p.His300Asp	coding	Benign
2	160028931	T	C	T160028931C	PLA2R1	NM_007366.5(PLA2R1):c.874A>G:p.Met292Val	coding	Benign
2	160101634	T	C	T160101634C	ITGB6	NM_000888.5(ITGB6):c.*102A>G	noncoding	Benign
2	160101948	A	T	A160101948T	ITGB6	NM_000888.5(ITGB6):c.2269-114T>A	noncoding	Benign
2	160101949	A	T	A160101949T	ITGB6	NM_000888.5(ITGB6):c.2269-115T>A	noncoding	Benign
2	160101974	A	G	A160101974G	ITGB6	NM_000888.5(ITGB6):c.2269-140T>C	noncoding	Benign
2	160107546	G	T	G160107546T	ITGB6	NM_000888.5(ITGB6):c.2268+133C>A	noncoding	Benign
2	160107548	A	G	A160107548G	ITGB6	NM_000888.5(ITGB6):c.2268+131T>C	noncoding	Benign
2	160107589	C	A	C160107589A	ITGB6	NM_000888.5(ITGB6):c.2268+90G>T	noncoding	Benign
2	160107946	G	A	G160107946A	ITGB6	NM_000888.5(ITGB6):c.2102-101C>T	noncoding	Benign
2	160112117	A	G	A160112117G	ITGB6	NM_000888.5(ITGB6):c.2064T>C:p.Asn688=	coding	Benign
2	160112327	G	T	G160112327T	ITGB6	NM_000888.5(ITGB6):c.1982-128C>A	noncoding	Benign
2	160126549	G	C	G160126549C	ITGB6	NM_000888.5(ITGB6):c.1713C>G:p.Gly571=	coding	Benign
2	160126656	A	G	A160126656G	ITGB6	NM_000888.5(ITGB6):c.1661-55T>C	noncoding	Benign
2	160126834	T	G	T160126834G	ITGB6	NM_000888.5(ITGB6):c.1661-233A>C	noncoding	Benign
2	160137289	A	T	A160137289T	ITGB6	NM_000888.5(ITGB6):c.1660+145T>A	noncoding	Benign
2	160137837	C	T	C160137837T	ITGB6	NM_000888.5(ITGB6):c.1257G>A:p.Val419=	coding	Benign
2	160138253	A	G	A160138253G	ITGB6	NM_000888.5(ITGB6):c.1108-54T>C	noncoding	Benign
2	160138257	G	C	G160138257C	ITGB6	NM_000888.5(ITGB6):c.1108-58C>G	noncoding	Benign
2	160138334	A	G	A160138334G	ITGB6	NM_000888.5(ITGB6):c.1108-135T>C	noncoding	Benign
2	160142281	A	C	A160142281C	ITGB6	NM_000888.5(ITGB6):c.1018-210T>G	noncoding	Benign
2	160169174	A	G	A160169174G	ITGB6	NM_000888.5(ITGB6):c.1017+38T>C	noncoding	Benign
2	160172481	T	C	T160172481C	ITGB6	NM_000888.5(ITGB6):c.921+88A>G	noncoding	Benign
2	160172707	G	A	G160172707A	ITGB6	NM_000888.5(ITGB6):c.783C>T:p.Asp261=	coding	Benign
2	160174108	C	A	C160174108A	ITGB6	NM_000888.5(ITGB6):c.625G>T:p.Gly209Ter	coding	Pathogenic
2	160195099	G	A	G160195099A	ITGB6	NM_000888.5(ITGB6):c.593+270C>T	noncoding	Benign
2	160195342	A	G	A160195342G	ITGB6	NM_000888.5(ITGB6):c.593+27T>C	noncoding	Benign
2	161417092	A	G	A161417092G	TBR1	NM_006593.4(TBR1):c.682A>G:p.Lys228Glu	coding	Pathogenic
2	161418323	G	C	G161418323C	TBR1	NM_006593.4(TBR1):c.969+1G>C	coding	Pathogenic
2	161419042	A	C	A161419042C	TBR1	NM_006593.4(TBR1):c.1120A>C:p.Asn374His	coding	Pathogenic
2	161420199	A	T	A161420199T	TBR1	NM_006593.4(TBR1):c.1132A>T:p.Thr378Ser	coding	Pathogenic
2	161423783	G	A	G161423783A	TBR1	NM_006593.4(TBR1):c.1605G>A:p.Pro535=	coding	Benign/Likely_benign
2	162267194	C	T	C162267194T	IFIH1	NM_022168.4(IFIH1):c.*6G>A	noncoding	Benign
2	162267342	A	C	A162267342C	IFIH1	NM_022168.4(IFIH1):c.2936T>G:p.Leu979Trp	coding	Pathogenic
2	162267462	C	T	C162267462T	IFIH1	NM_022168.4(IFIH1):c.2898+17G>A	noncoding	Benign
2	162268391	T	C	T162268391C	IFIH1	NM_022168.4(IFIH1):c.2617-114A>G	noncoding	Benign
2	162272028	G	T	G162272028T	IFIH1	NM_022168.4(IFIH1):c.2616+198C>A	noncoding	Benign
2	162272215	A	G	A162272215G	IFIH1	NM_022168.4(IFIH1):c.2616+11T>C	noncoding	Benign
2	162272698	C	T	C162272698T	IFIH1	NM_022168.4(IFIH1):c.2455-311G>A	noncoding	Benign
2	162273963	A	G	A162273963G	IFIH1	NM_022168.4(IFIH1):c.2305-19T>C	noncoding	Benign
2	162276596	C	G	C162276596G	IFIH1	NM_022168.4(IFIH1):c.2304+91G>C	noncoding	Benign
2	162276646	A	G	A162276646G	IFIH1	NM_022168.4(IFIH1):c.2304+41T>C	noncoding	Benign
2	162276667	G	A	G162276667A	IFIH1	NM_022168.4(IFIH1):c.2304+20C>T	noncoding	Benign
2	162276886	G	A	G162276886A	IFIH1	NM_022168.4(IFIH1):c.2105C>T:p.Thr702Ile	coding	Benign/Likely_benign
2	162276939	A	G	A162276939G	IFIH1	NM_022168.4(IFIH1):c.2052T>C:p.Asn684=	coding	Benign
2	162277609	A	G	A162277609G	IFIH1	NM_022168.4(IFIH1):c.1850T>C:p.Ile617Thr	coding	Pathogenic
2	162277647	C	T	C162277647T	IFIH1	NM_022168.4(IFIH1):c.1812G>A:p.Leu604=	coding	Benign
2	162277918	C	T	C162277918T	IFIH1	NM_022168.4(IFIH1):c.1766-225G>A	noncoding	Benign
2	162277978	A	T	A162277978T	IFIH1	NM_022168.4(IFIH1):c.1765+227T>A	noncoding	Benign
2	162278172	A	T	A162278172T	IFIH1	NM_022168.4(IFIH1):c.1765+33T>A	noncoding	Benign
2	162278347	C	T	C162278347T	IFIH1	NM_022168.4(IFIH1):c.1642-19G>A	noncoding	Benign
2	162278348	T	G	T162278348G	IFIH1	NM_022168.4(IFIH1):c.1642-20A>C	noncoding	Benign
2	162278534	A	G	A162278534G	IFIH1	NM_022168.4(IFIH1):c.1642-206T>C	noncoding	Benign
2	162279752	T	G	T162279752G	IFIH1	NM_022168.4(IFIH1):c.1641+244A>C	noncoding	Benign
2	162280014	A	G	A162280014G	IFIH1	NM_022168.4(IFIH1):c.1623T>C:p.Ile541=	coding	Benign
2	162280217	G	C	G162280217C	IFIH1	NM_022168.4(IFIH1):c.1525-105C>G	noncoding	Benign
2	162280425	A	G	A162280425G	IFIH1	NM_022168.4(IFIH1):c.1525-313T>C	noncoding	Benign
2	162281173	G	A	G162281173A	IFIH1	NM_022168.4(IFIH1):c.1524+155C>T	noncoding	Benign
2	162281175	A	G	A162281175G	IFIH1	NM_022168.4(IFIH1):c.1524+153T>C	noncoding	Benign
2	162281185	G	A	G162281185A	IFIH1	NM_022168.4(IFIH1):c.1524+143C>T	noncoding	Benign
2	162281243	A	C	A162281243C	IFIH1	NM_022168.4(IFIH1):c.1524+85T>G	noncoding	Benign
2	162281309	A	G	A162281309G	IFIH1	NM_022168.4(IFIH1):c.1524+19T>C	noncoding	Benign
2	162281361	C	G	C162281361G	IFIH1	NM_022168.4(IFIH1):c.1491G>C:p.Thr497=	coding	Benign
2	162281473	T	C	T162281473C	IFIH1	NM_022168.4(IFIH1):c.1379A>G:p.His460Arg	coding	Benign
2	162281607	T	A	T162281607A	IFIH1	NM_022168.4(IFIH1):c.1307-62A>T	noncoding	Benign
2	162281777	G	C	G162281777C	IFIH1	NM_022168.4(IFIH1):c.1307-232C>G	noncoding	Benign
2	162282275	G	A	G162282275A	IFIH1	NM_022168.4(IFIH1):c.1306+91C>T	noncoding	Benign
2	162282586	A	T	A162282586T	IFIH1	NM_022168.4(IFIH1):c.1096-10T>A	noncoding	Benign
2	162287886	G	T	G162287886T	IFIH1	NM_022168.4(IFIH1):c.1095+249C>A	noncoding	Benign
2	162287937	A	G	A162287937G	IFIH1	NM_022168.4(IFIH1):c.1095+198T>C	noncoding	Benign
2	162288137	T	C	T162288137C	IFIH1	NM_022168.4(IFIH1):c.1093A>G:p.Lys365Glu	coding	Benign
2	162288366	T	G	T162288366G	IFIH1	NM_022168.4(IFIH1):c.875-11A>C	noncoding	Benign
2	162288535	A	C	A162288535C	IFIH1	NM_022168.4(IFIH1):c.875-180T>G	noncoding	Benign
2	162293386	G	T	G162293386T	IFIH1	NM_022168.4(IFIH1):c.874+178C>A	noncoding	Benign
2	162293455	T	C	T162293455C	IFIH1	NM_022168.4(IFIH1):c.874+109A>G	noncoding	Benign
2	162306692	G	A	G162306692A	IFIH1	NM_022168.4(IFIH1):c.769+17C>T	noncoding	Benign
2	162306874	G	C	G162306874C	IFIH1	NM_022168.4(IFIH1):c.623-19C>G	noncoding	Benign
2	162310750	T	C	T162310750C	IFIH1	NM_022168.4(IFIH1):c.622+15A>G	noncoding	Benign
2	162311236	C	G	C162311236G	IFIH1	NM_022168.4(IFIH1):c.454-303G>C	noncoding	Benign
2	162317850	C	G	C162317850G	IFIH1	NM_022168.4(IFIH1):c.453+5G>C	noncoding	Benign
2	162318487	C	T	C162318487T	IFIH1	NM_022168.4(IFIH1):c.-180G>A	noncoding	Benign
2	162318816	A	T	A162318816T	IFIH1	NM_001330265.1(GCA):c.-410A>T	noncoding	Benign
2	165090858	C	T	C165090858T	SCN3A	NM_006922.4(SCN3A):c.5295G>A:p.Met1765Ile	coding	Pathogenic/Likely_pathogenic
2	165091291	C	T	C165091291T	SCN3A	NM_006922.4(SCN3A):c.4862G>A:p.Arg1621Gln	coding	Pathogenic/Likely_pathogenic
2	165094453	G	A	G165094453A	SCN3A	NM_006922.4(SCN3A):c.4457C>T:p.Thr1486Ile	coding	Pathogenic/Likely_pathogenic
2	165094492	A	G	A165094492G	SCN3A	NM_006922.4(SCN3A):c.4432-14T>C	noncoding	Benign
2	165095386	A	G	A165095386G	SCN3A	NM_006922.4(SCN3A):c.4431+125T>C	noncoding	Benign
2	165095553	G	A	G165095553A	SCN3A	NM_006922.4(SCN3A):c.4389C>T:p.Phe1463=	coding	Benign
2	165096326	A	G	A165096326G	SCN3A	NM_006922.4(SCN3A):c.4293+141T>C	noncoding	Benign
2	165097072	T	C	T165097072C	SCN3A	NM_006922.4(SCN3A):c.4239+180A>G	noncoding	Benign
2	165097278	C	A	C165097278A	SCN3A	NM_006922.4(SCN3A):c.4213G>T:p.Ala1405Ser	coding	Benign
2	165097539	G	A	G165097539A	SCN3A	NM_006922.4(SCN3A):c.3967-15C>T	noncoding	Benign
2	165112683	T	C	T165112683C	SCN3A	NM_006922.4(SCN3A):c.3843+202A>G	noncoding	Benign
2	165113803	G	A	G165113803A	SCN3A	NM_006922.4(SCN3A):c.3669+13C>T	noncoding	Benign
2	165114102	T	A	T165114102A	SCN3A	NM_006922.4(SCN3A):c.3515-132A>T	noncoding	Benign
2	165128075	C	T	C165128075T	SCN3A	NM_006922.4(SCN3A):c.2949G>A:p.Leu983=	coding	Benign
2	165131230	A	G	A165131230G	SCN3A	NM_006922.4(SCN3A):c.2565+14T>C	noncoding	Benign
2	165131512	C	A	C165131512A	SCN3A	NM_006922.4(SCN3A):c.2392-95G>T	noncoding	Benign
2	165139625	G	T	G165139625T	SCN3A	NM_006922.4(SCN3A):c.2020-17C>A	noncoding	Benign
2	165139700	A	G	A165139700G	SCN3A	NM_006922.4(SCN3A):c.2020-92T>C	noncoding	Benign
2	165139771	A	T	A165139771T	SCN3A	NM_006922.4(SCN3A):c.2020-163T>A	noncoding	Benign
2	165139772	A	T	A165139772T	SCN3A	NM_006922.4(SCN3A):c.2020-164T>A	noncoding	Benign
2	165139817	T	C	T165139817C	SCN3A	NM_006922.4(SCN3A):c.2020-209A>G	noncoding	Benign
2	165139829	T	G	T165139829G	SCN3A	NM_006922.4(SCN3A):c.2020-221A>C	noncoding	Benign
2	165147063	C	T	C165147063T	SCN3A	NM_006922.4(SCN3A):c.1381-34G>A	noncoding	Benign
2	165147186	T	C	T165147186C	SCN3A	NM_006922.4(SCN3A):c.1381-157A>G	noncoding	Benign
2	165154269	G	T	G165154269T	SCN3A	NM_006922.4(SCN3A):c.1380+183C>A	noncoding	Benign
2	165154440	A	G	A165154440G	SCN3A	NM_006922.4(SCN3A):c.1380+12T>C	noncoding	Benign
2	165154503	G	A	G165154503A	SCN3A	NM_006922.4(SCN3A):c.1329C>T:p.Ala443=	coding	Benign
2	165154514	G	A	G165154514A	SCN3A	NM_006922.4(SCN3A):c.1318C>T:p.Gln440Ter	coding	Pathogenic
2	165155693	C	T	C165155693T	SCN3A	NM_006922.4(SCN3A):c.1173+69G>A	noncoding	Benign
2	165156121	G	A	G165156121A	SCN3A	NM_006922.4(SCN3A):c.1032-218C>T	noncoding	Benign
2	165162117	A	G	A165162117G	SCN3A	NM_006922.4(SCN3A):c.1031+191T>C	noncoding	Benign
2	165162126	T	A	T165162126A	SCN3A	NM_006922.4(SCN3A):c.1031+182A>T	noncoding	Benign
2	165162127	T	G	T165162127G	SCN3A	NM_006922.4(SCN3A):c.1031+181A>C	noncoding	Benign
2	165162193	T	C	T165162193C	SCN3A	NM_006922.4(SCN3A):c.1031+115A>G	noncoding	Benign
2	165162233	A	G	A165162233G	SCN3A	NM_006922.4(SCN3A):c.1031+75T>C	noncoding	Benign
2	165162391	C	A	C165162391A	SCN3A	NM_006922.4(SCN3A):c.968-20G>T	noncoding	Benign
2	165162423	T	C	T165162423C	SCN3A	NM_006922.4(SCN3A):c.968-52A>G	noncoding	Benign
2	165162480	C	A	C165162480A	SCN3A	NM_006922.4(SCN3A):c.967+76G>T	noncoding	Benign
2	165162781	A	G	A165162781G	SCN3A	NM_006922.3(SCN3A):c.742T>C:p.Ser248Pro	coding	Pathogenic
2	165162874	T	C	T165162874C	SCN3A	NM_006922.4(SCN3A):c.695-46A>G	noncoding	Benign
2	165163785	C	T	C165163785T	SCN3A	NM_006922.4(SCN3A):c.603-76G>A	noncoding	Benign
2	165163862	C	T	C165163862T	SCN3A	NM_006922.4(SCN3A):c.603-153G>A	coding	Benign
2	165164691	C	T	C165164691T	SCN3A	NM_006922.4(SCN3A):c.474-171G>A	noncoding	Benign
2	165164738	G	T	G165164738T	SCN3A	NM_006922.4(SCN3A):c.474-218C>A	noncoding	Benign
2	165168664	G	A	G165168664A	SCN3A	NM_006922.4(SCN3A):c.473+72C>T	noncoding	Benign
2	165168907	G	A	G165168907A	SCN3A	NM_006922.4(SCN3A):c.384-82C>T	noncoding	Benign
2	165170194	G	A	G165170194A	SCN3A	NM_006922.4(SCN3A):c.383+236C>T	noncoding	Benign
2	165170349	G	A	G165170349A	SCN3A	NM_006922.4(SCN3A):c.383+81C>T	noncoding	Benign
2	165170564	C	T	C165170564T	SCN3A	NM_006922.4(SCN3A):c.265-16G>A	noncoding	Benign
2	165170565	G	A	G165170565A	SCN3A	NM_006922.4(SCN3A):c.265-17C>T	noncoding	Benign
2	165170666	A	G	A165170666G	SCN3A	NM_006922.4(SCN3A):c.265-118T>C	noncoding	Benign
2	165170677	T	A	T165170677A	SCN3A	NM_006922.4(SCN3A):c.265-129A>T	noncoding	Benign
2	165176188	A	T	A165176188T	SCN3A	NM_006922.4(SCN3A):c.207T>A:p.Pro69=	coding	Benign/Likely_benign
2	165293790	G	C	G165293790C	SCN2A	NM_001040142.2(SCN2A):c.-51-1983G>C	noncoding	Benign
2	165295601	T	C	T165295601C	SCN2A	NM_001040142.2(SCN2A):c.-51-172T>C	noncoding	Benign
2	165295675	A	G	A165295675G	SCN2A	NM_001040142.2(SCN2A):c.-51-98A>G	noncoding	Benign
2	165296765	A	G	A165296765G	SCN2A	NM_001040142.2(SCN2A):c.268-252A>G	noncoding	Benign
2	165296989	A	G	A165296989G	SCN2A	NM_001040142.2(SCN2A):c.268-28A>G	noncoding	Benign
2	165297079	C	A	C165297079A	SCN2A	NM_001040142.2(SCN2A):c.330C>A:p.Tyr110Ter	coding	Pathogenic
2	165307814	C	T	C165307814T	SCN2A	NM_001040142.2(SCN2A):c.387-34C>T	noncoding	Benign
2	165307869	G	A	G165307869A	SCN2A	NM_001040142.2(SCN2A):c.408G>A:p.Met136Ile	coding	Pathogenic/Likely_pathogenic
2	165307938	G	A	G165307938A	SCN2A	NM_001040142.2(SCN2A):c.476+1G>A	coding	Pathogenic
2	165308768	G	A	G165308768A	SCN2A	NM_001040142.2(SCN2A):c.579G>A:p.Trp193Ter	coding	Pathogenic
2	165309380	A	G	A165309380G	SCN2A	NM_001040142.2(SCN2A):c.634A>G:p.Asn212Asp	coding	Pathogenic
2	165309384	T	C	T165309384C	SCN2A	NM_001040142.2(SCN2A):c.638T>C:p.Val213Ala	coding	Pathogenic/Likely_pathogenic
2	165310332	C	G	C165310332G	SCN2A	NM_001040142.2(SCN2A):c.707C>G:p.Thr236Ser	coding	Pathogenic
2	165310343	G	T	G165310343T	SCN2A	NM_001040142.2(SCN2A):c.718G>T:p.Ala240Ser	coding	Pathogenic
2	165310376	G	A	G165310376A	SCN2A	NM_001040142.2(SCN2A):c.751G>A:p.Val251Ile	coding	Pathogenic/Likely_pathogenic
2	165310377	T	C	T165310377C	SCN2A	NM_001040142.2(SCN2A):c.752T>C:p.Val251Ala	coding	Pathogenic
2	165310412	G	A	G165310412A	SCN2A	NM_001040142.2(SCN2A):c.787G>A:p.Ala263Thr	coding	Pathogenic
2	165310432	G	T	G165310432T	SCN2A	NM_001040142.2(SCN2A):c.807G>T:p.Leu269Phe	coding	Pathogenic
2	165311993	A	G	A165311993G	SCN2A	NM_001040142.2(SCN2A):c.971-32A>G	noncoding	Benign
2	165312102	C	T	C165312102T	SCN2A	NM_001040142.2(SCN2A):c.1034+14C>T	noncoding	Benign
2	165313457	A	G	A165313457G	SCN2A	NM_001040142.2(SCN2A):c.1035-163A>G	noncoding	Benign
2	165313613	A	C	A165313613C	SCN2A	NM_001040142.2(SCN2A):c.1035-7A>C	noncoding	Benign
2	165313693	T	C	T165313693C	SCN2A	NM_001040142.2(SCN2A):c.1108T>C:p.Phe370Leu	coding	Pathogenic
2	165313804	C	T	C165313804T	SCN2A	NM_001040142.2(SCN2A):c.1176+43C>T	noncoding	Benign
2	165313978	A	T	A165313978T	SCN2A	NM_001040142.2(SCN2A):c.1253A>T:p.Asn418Ile	coding	Pathogenic
2	165313986	T	G	T165313986G	SCN2A	NM_001040142.2(SCN2A):c.1261T>G:p.Leu421Val	coding	Pathogenic
2	165313992	G	C	G165313992C	SCN2A	NM_001040142.2(SCN2A):c.1267G>C:p.Val423Leu	coding	Pathogenic/Likely_pathogenic
2	165313992	G	T	G165313992T	SCN2A	NM_001040142.2(SCN2A):c.1267G>T:p.Val423Leu	coding	Pathogenic
2	165313995	G	A	G165313995A	SCN2A	NM_001040142.2(SCN2A):c.1270G>A:p.Val424Met	coding	Pathogenic
2	165313996	T	G	T165313996G	SCN2A	NM_001040142.2(SCN2A):c.1271T>G:p.Val424Gly	coding	Pathogenic
2	165314013	G	A	G165314013A	SCN2A	NM_001040142.2(SCN2A):c.1288G>A:p.Glu430Lys	coding	Pathogenic
2	165314032	T	C	T165314032C	SCN2A	NM_001040142.2(SCN2A):c.1307T>C:p.Leu436Ser	coding	Pathogenic
2	165314158	T	C	T165314158C	SCN2A	NM_001040142.2(SCN2A):c.1383+50T>C	noncoding	Benign
2	165315807	A	G	A165315807G	SCN2A	NM_001040142.2(SCN2A):c.1671+49A>G	noncoding	Benign
2	165323221	C	G	C165323221G	SCN2A	NM_001040142.2(SCN2A):c.1737C>G:p.Ser579Arg	coding	Pathogenic
2	165323460	G	A	G165323460A	SCN2A	NM_001040142.2(SCN2A):c.1976G>A:p.Gly659Asp	coding	Benign/Likely_benign
2	165326814	A	G	A165326814G	SCN2A	NM_001040142.2(SCN2A):c.2017-38A>G	noncoding	Benign
2	165326850	A	G	A165326850G	SCN2A	NM_001040142.2(SCN2A):c.2017-2A>G	noncoding	Pathogenic
2	165326916	T	A	T165326916A	SCN2A	NM_001040142.2(SCN2A):c.2081T>A:p.Leu694Ter	coding	Pathogenic
2	165327035	A	G	A165327035G	SCN2A	NM_001040142.2(SCN2A):c.2149+51A>G	noncoding	Benign
2	165327179	C	G	C165327179G	SCN2A	NM_001040142.2(SCN2A):c.2149+195C>G	noncoding	Benign
2	165327180	C	T	C165327180T	SCN2A	NM_001040142.2(SCN2A):c.2149+196C>T	noncoding	Benign
2	165331263	T	C	T165331263C	SCN2A	NM_001040142.2(SCN2A):c.2150-67T>C	noncoding	Benign
2	165331370	T	A	T165331370A	SCN2A	NM_001040142.2(SCN2A):c.2190T>A:p.Tyr730Ter	coding	Pathogenic
2	165331580	T	C	T165331580C	SCN2A	NM_001040142.2(SCN2A):c.2388+12T>C	noncoding	Benign/Likely_benign
2	165342248	G	A	G165342248A	SCN2A	NM_001040142.2(SCN2A):c.2389-48G>A	noncoding	Benign
2	165344580	C	A	C165344580A	SCN2A	NM_001040142.2(SCN2A):c.2588C>A:p.Ser863Tyr	coding	Pathogenic
2	165344630	G	A	G165344630A	SCN2A	NM_001040142.2(SCN2A):c.2638G>A:p.Ala880Thr	coding	Pathogenic/Likely_pathogenic
2	165344687	G	A	G165344687A	SCN2A	NM_001040142.2(SCN2A):c.2695G>A:p.Gly899Ser	coding	Pathogenic/Likely_pathogenic
2	165344836	G	A	G165344836A	SCN2A	NM_001040142.2(SCN2A):c.2844G>A:p.Trp948Ter	coding	Pathogenic
2	165344846	G	T	G165344846T	SCN2A	NM_001040142.2(SCN2A):c.2854G>T:p.Glu952Ter	coding	Pathogenic
2	165345151	T	A	T165345151A	SCN2A	NM_001040142.2(SCN2A):c.2919+240T>A	noncoding	Benign
2	165354312	A	T	A165354312T	SCN2A	NM_001040142.2(SCN2A):c.3040A>T:p.Ile1014Phe	coding	Benign
2	165354339	G	T	G165354339T	SCN2A	NM_001040142.2(SCN2A):c.3067G>T:p.Glu1023Ter	coding	Pathogenic
2	165354697	T	A	T165354697A	SCN2A	NM_001040142.2(SCN2A):c.3399+26T>A	noncoding	Benign
2	165354905	C	T	C165354905T	SCN2A	NM_001040142.2(SCN2A):c.3399+234C>T	noncoding	Benign
2	165365274	C	T	C165365274T	SCN2A	NM_001040142.2(SCN2A):c.3520+11C>T	noncoding	Benign/Likely_benign
2	165370071	A	G	A165370071G	SCN2A	NM_001040142.2(SCN2A):c.3676-55A>G	noncoding	Benign
2	165370232	G	A	G165370232A	SCN2A	NM_001040142.2(SCN2A):c.3782G>A:p.Trp1261Ter	coding	Pathogenic
2	165372895	C	T	C165372895T	SCN2A	NM_001040142.2(SCN2A):c.3850-330C>T	noncoding	Benign
2	165373311	G	T	G165373311T	SCN2A	NM_001040142.2(SCN2A):c.3936G>T:p.Arg1312Ser	coding	Pathogenic
2	165373412	T	C	T165373412C	SCN2A	NM_001040142.2(SCN2A):c.3972+65T>C	noncoding	Benign
2	165374709	G	A	G165374709A	SCN2A	NM_001040142.2(SCN2A):c.3997G>A:p.Ala1333Thr	coding	Pathogenic
2	165374709	G	T	G165374709T	SCN2A	NM_001040142.2(SCN2A):c.3997G>T:p.Ala1333Ser	coding	Pathogenic
2	165374727	A	G	A165374727G	SCN2A	NM_001040142.2(SCN2A):c.4015A>G:p.Asn1339Asp	coding	Pathogenic
2	165377505	T	C	T165377505C	SCN2A	NM_001040142.2(SCN2A):c.4255-92T>C	noncoding	Benign
2	165377606	A	G	A165377606G	SCN2A	NM_001040142.2(SCN2A):c.4264A>G:p.Lys1422Glu	coding	Pathogenic
2	165377858	T	C	T165377858C	SCN2A	NM_001040142.2(SCN2A):c.4308+208T>C	noncoding	Benign
2	165377933	T	A	T165377933A	SCN2A	NM_001040142.2(SCN2A):c.4308+283T>A	noncoding	Benign
2	165377936	C	G	C165377936G	SCN2A	NM_001040142.2(SCN2A):c.4308+286C>G	noncoding	Benign
2	165380382	T	G	T165380382G	SCN2A	NM_001040142.2(SCN2A):c.4309-210T>G	noncoding	Benign
2	165380599	T	G	T165380599G	SCN2A	NM_001040142.2(SCN2A):c.4316T>G:p.Leu1439Ter	coding	Pathogenic
2	165380632	A	G	A165380632G	SCN2A	NM_001040142.2(SCN2A):c.4349A>G:p.Tyr1450Cys	coding	Pathogenic
2	165380647	T	A	T165380647A	SCN2A	NM_001040142.2(SCN2A):c.4364T>A:p.Ile1455Asn	coding	Pathogenic
2	165380674	C	T	C165380674T	SCN2A	NM_001040142.2(SCN2A):c.4391C>T:p.Thr1464Ile	coding	Pathogenic/Likely_pathogenic
2	165380682	C	G	C165380682G	SCN2A	NM_001040142.2(SCN2A):c.4399C>G:p.Leu1467Val	coding	Pathogenic
2	165380715	C	A	C165380715A	SCN2A	NM_001040142.2(SCN2A):c.4432C>A:p.Gln1478Lys	coding	Pathogenic
2	165380730	A	G	A165380730G	SCN2A	NM_001040142.2(SCN2A):c.4446+1A>G	coding	Pathogenic
2	165380987	T	C	T165380987C	SCN2A	NM_001040142.2(SCN2A):c.4447-106T>C	noncoding	Benign
2	165381100	G	A	G165381100A	SCN2A	NM_001040142.2(SCN2A):c.4454G>A:p.Gly1485Asp	coding	Pathogenic
2	165381144	G	A	G165381144A	SCN2A	NM_001040142.2(SCN2A):c.4498G>A:p.Ala1500Thr	coding	Pathogenic
2	165381169	A	T	A165381169T	SCN2A	NM_001040142.2(SCN2A):c.4523A>T:p.Lys1508Ile	coding	Pathogenic
2	165381189	C	T	C165381189T	SCN2A	NM_001040142.2(SCN2A):c.4543C>T:p.Arg1515Ter	coding	Pathogenic
2	165386696	C	T	C165386696T	SCN2A	NM_001040142.2(SCN2A):c.4552-50C>T	noncoding	Benign
2	165386804	T	C	T165386804C	SCN2A	NM_001040142.2(SCN2A):c.4610T>C:p.Ile1537Thr	coding	Pathogenic
2	165386906	T	C	T165386906C	SCN2A	NM_001040142.2(SCN2A):c.4712T>C:p.Ile1571Thr	coding	Pathogenic
2	165386981	T	G	T165386981G	SCN2A	NM_001040142.2(SCN2A):c.4787T>G:p.Ile1596Ser	coding	Pathogenic
2	165386983	T	C	T165386983C	SCN2A	NM_001040142.2(SCN2A):c.4789T>C:p.Phe1597Leu	coding	Pathogenic
2	165387064	A	G	A165387064G	SCN2A	NM_001040142.2(SCN2A):c.4822+48A>G	noncoding	Benign
2	165387327	T	C	T165387327C	SCN2A	NM_001040142.2(SCN2A):c.4822+311T>C	noncoding	Benign
2	165388605	T	G	T165388605G	SCN2A	NM_001040142.2(SCN2A):c.4823-24T>G	noncoding	Benign
2	165388641	C	G	C165388641G	SCN2A	NM_001040142.2(SCN2A):c.4835C>G:p.Ala1612Gly	coding	Pathogenic
2	165388670	C	T	C165388670T	SCN2A	NM_001040142.2(SCN2A):c.4864C>T:p.Pro1622Ser	coding	Pathogenic
2	165388691	C	G	C165388691G	SCN2A	NM_001040142.2(SCN2A):c.4885C>G:p.Arg1629Gly	coding	Pathogenic
2	165388707	G	A	G165388707A	SCN2A	NM_001040142.2(SCN2A):c.4901G>A:p.Gly1634Asp	coding	Pathogenic
2	165388707	G	T	G165388707T	SCN2A	NM_001040142.2(SCN2A):c.4901G>T:p.Gly1634Val	coding	Pathogenic
2	165388709	C	T	C165388709T	SCN2A	NM_001040142.2(SCN2A):c.4903C>T:p.Arg1635Ter	coding	Pathogenic/Likely_pathogenic
2	165388714	C	G	C165388714G	SCN2A	NM_001040142.2(SCN2A):c.4908C>G:p.Ile1636Met	coding	Pathogenic/Likely_pathogenic
2	165388719	G	C	G165388719C	SCN2A	NM_001040142.2(SCN2A):c.4913G>C:p.Arg1638Pro	coding	Pathogenic
2	165388739	G	A	G165388739A	SCN2A	NM_001040142.2(SCN2A):c.4933G>A:p.Gly1645Arg	coding	Pathogenic
2	165388754	C	A	C165388754A	SCN2A	NM_001040142.2(SCN2A):c.4948C>A:p.Leu1650Ile	coding	Pathogenic
2	165388760	G	C	G165388760C	SCN2A	NM_001040142.2(SCN2A):c.4954G>C:p.Ala1652Pro	coding	Pathogenic
2	165388775	C	T	C165388775T	SCN2A	NM_001040142.2(SCN2A):c.4969C>T:p.Leu1657Phe	coding	Pathogenic
2	165388950	G	T	G165388950T	SCN2A	NM_001040142.2(SCN2A):c.5144G>T:p.Gly1715Val	coding	Pathogenic
2	165388961	T	C	T165388961C	SCN2A	NM_001040142.2(SCN2A):c.5155T>C:p.Leu1719=	coding	Benign/Likely_benign
2	165389043	G	A	G165389043A	SCN2A	NM_001040142.2(SCN2A):c.5237G>A:p.Cys1746Tyr	coding	Pathogenic
2	165389211	G	A	G165389211A	SCN2A	NM_001040142.2(SCN2A):c.5405G>A:p.Trp1802Ter	coding	Pathogenic
2	165389237	C	G	C165389237G	SCN2A	NM_001040142.2(SCN2A):c.5431C>G:p.Gln1811Glu	coding	Pathogenic
2	165389364	A	G	A165389364G	SCN2A	NM_001040142.2(SCN2A):c.5558A>G:p.His1853Arg	coding	Pathogenic
2	165389446	A	C	A165389446C	SCN2A	NM_001040142.2(SCN2A):c.5640A>C:p.Glu1880Asp	coding	Pathogenic
2	165389623	A	G	A165389623G	SCN2A	NM_001040142.2(SCN2A):c.5817A>G:p.Glu1939=	coding	Benign/Likely_benign
2	165389800	A	G	A165389800G	SCN2A	NM_001040142.2(SCN2A):c.5994A>G:p.Lys1998=	coding	Benign/Likely_benign
2	165389870	C	T	C165389870T	SCN2A	NM_001040142.2(SCN2A):c.*46C>T	noncoding	Benign
2	165750109	G	A	G165750109A	GALNT3	NM_004482.4(GALNT3):c.1627-215C>T	noncoding	Benign
2	165754496	C	T	C165754496T	GALNT3	NM_004482.4(GALNT3):c.1626+131G>A	noncoding	Benign
2	165754576	C	T	C165754576T	GALNT3	NM_004482.4(GALNT3):c.1626+51G>A	noncoding	Benign
2	165755264	C	G	C165755264G	GALNT3	NM_004482.4(GALNT3):c.1393-201G>C	noncoding	Benign
2	165759045	C	T	C165759045T	GALNT3	NM_004482.4(GALNT3):c.1074-181G>A	noncoding	Benign
2	165759512	C	A	C165759512A	GALNT3	NM_004482.4(GALNT3):c.897G>T:p.Thr299=	coding	Benign
2	165761752	C	T	C165761752T	GALNT3	NM_004482.4(GALNT3):c.838+153G>A	noncoding	Benign
2	165762314	G	A	G165762314A	GALNT3	NM_004482.4(GALNT3):c.689-260C>T	noncoding	Benign
2	165764726	G	A	G165764726A	GALNT3	NM_004482.4(GALNT3):c.688+158C>T	noncoding	Benign
2	165764844	T	C	T165764844C	GALNT3	NM_004482.4(GALNT3):c.688+40A>G	noncoding	Benign
2	165770096	G	A	G165770096A	GALNT3	NM_004482.4(GALNT3):c.515+90C>T	noncoding	Benign
2	165770197	A	G	A165770197G	GALNT3	NM_004482.4(GALNT3):c.504T>C:p.Thr168=	coding	Benign/Likely_benign
2	165770685	G	A	G165770685A	GALNT3	NM_004482.4(GALNT3):c.16C>T:p.Arg6Ter	coding	Pathogenic
2	165792282	A	C	A165792282C	GALNT3	NM_004482.4(GALNT3):c.-109+1733T>G	noncoding	Benign
2	165876017	G	T	G165876017T	TTC21B	NM_024753.5(TTC21B):c.3873+148C>A	noncoding	Benign
2	165876328	G	T	G165876328T	TTC21B	NM_024753.5(TTC21B):c.3806-96C>A	noncoding	Benign
2	165876363	G	A	G165876363A	TTC21B	NM_024753.5(TTC21B):c.3806-131C>T	noncoding	Benign
2	165880871	T	C	T165880871C	TTC21B	NM_024753.5(TTC21B):c.3685-72A>G	noncoding	Benign
2	165890578	C	T	C165890578T	TTC21B	NM_024753.5(TTC21B):c.3164G>A:p.Trp1055Ter	coding	Pathogenic
2	165890630	C	A	C165890630A	TTC21B	NM_024753.5(TTC21B):c.3112G>T:p.Glu1038Ter	coding	Pathogenic
2	165890863	G	A	G165890863A	TTC21B	NM_024753.5(TTC21B):c.3076C>T:p.Gln1026Ter	coding	Pathogenic
2	165891207	T	C	T165891207C	TTC21B	NM_024753.5(TTC21B):c.2951-219A>G	noncoding	Benign
2	165891261	C	T	C165891261T	TTC21B	NM_024753.5(TTC21B):c.2951-273G>A	noncoding	Benign
2	165899820	G	A	G165899820A	TTC21B	NM_024753.5(TTC21B):c.2818C>T:p.Gln940Ter	coding	Pathogenic
2	165900053	C	G	C165900053G	TTC21B	NM_024753.5(TTC21B):c.2758-173G>C	noncoding	Benign
2	165901787	G	A	G165901787A	TTC21B	NM_024753.5(TTC21B):c.2692C>T:p.Arg898Ter	coding	Pathogenic
2	165901907	G	A	G165901907A	TTC21B	NM_024753.5(TTC21B):c.2572C>T:p.Arg858Ter	coding	Pathogenic
2	165911451	A	C	A165911451C	TTC21B	NM_024753.5(TTC21B):c.2337T>G:p.Tyr779Ter	coding	Pathogenic
2	165911582	T	C	T165911582C	TTC21B	NM_024753.5(TTC21B):c.2323-117A>G	noncoding	Benign
2	165911666	A	T	A165911666T	TTC21B	NM_024753.5(TTC21B):c.2323-201T>A	noncoding	Benign
2	165911668	A	T	A165911668T	TTC21B	NM_024753.5(TTC21B):c.2323-203T>A	noncoding	Benign
2	165911670	T	A	T165911670A	TTC21B	NM_024753.5(TTC21B):c.2323-205A>T	noncoding	Benign
2	165911672	T	A	T165911672A	TTC21B	NM_024753.5(TTC21B):c.2323-207A>T	noncoding	Benign
2	165916945	C	T	C165916945T	TTC21B	NM_024753.5(TTC21B):c.1899+312G>A	noncoding	Benign
2	165917591	T	C	T165917591C	TTC21B	NM_024753.5(TTC21B):c.1675-110A>G	noncoding	Benign
2	165919375	A	C	A165919375C	TTC21B	NM_024753.5(TTC21B):c.1575T>G:p.Tyr525Ter	coding	Pathogenic
2	165919404	G	A	G165919404A	TTC21B	NM_024753.5(TTC21B):c.1546C>T:p.Gln516Ter	coding	Pathogenic
2	165924401	A	G	A165924401G	TTC21B	NM_024753.5(TTC21B):c.1516+148T>C	noncoding	Benign
2	165929144	A	T	A165929144T	TTC21B	NM_024753.5(TTC21B):c.1377T>A:p.Cys459Ter	coding	Pathogenic
2	165929175	A	C	A165929175C	TTC21B	NM_024753.5(TTC21B):c.1346T>G:p.Leu449Ter	coding	Pathogenic
2	165929697	G	A	G165929697A	TTC21B	NM_024753.5(TTC21B):c.1138C>T:p.Gln380Ter	coding	Pathogenic
2	165929841	C	T	C165929841T	TTC21B	NM_024753.5(TTC21B):c.1088-94G>A	noncoding	Benign
2	165930463	A	C	A165930463C	TTC21B	NM_024753.5(TTC21B):c.895-99T>G	noncoding	Benign
2	165931650	C	T	C165931650T	TTC21B	NM_024753.5(TTC21B):c.894+108G>A	noncoding	Benign
2	165932929	A	G	A165932929G	TTC21B	NM_024753.5(TTC21B):c.795+44T>C	noncoding	Benign
2	165940934	T	A	T165940934A	TTC21B	NM_024753.5(TTC21B):c.710+93A>T	noncoding	Benign
2	165940940	C	A	C165940940A	TTC21B	NM_024753.5(TTC21B):c.710+87G>T	noncoding	Benign
2	165943086	T	C	T165943086C	TTC21B	NM_024753.5(TTC21B):c.552+133A>G	noncoding	Benign
2	165943383	G	A	G165943383A	TTC21B	NM_024753.5(TTC21B):c.430-42C>T	noncoding	Benign
2	165945414	C	G	C165945414G	TTC21B	NM_024753.5(TTC21B):c.429+110G>C	noncoding	Benign
2	165945912	T	A	T165945912A	TTC21B	NM_024753.5(TTC21B):c.263-222A>T	noncoding	Benign
2	165949378	C	T	C165949378T	TTC21B	NM_024753.5(TTC21B):c.262+16G>A	noncoding	Benign/Likely_benign
2	165949484	G	A	G165949484A	TTC21B	NM_024753.5(TTC21B):c.172C>T:p.Arg58Ter	coding	Pathogenic
2	165953508	G	A	G165953508A	TTC21B	NM_024753.5(TTC21B):c.21+177C>T	noncoding	Benign
2	165953543	C	T	C165953543T	TTC21B	NM_024753.5(TTC21B):c.21+142G>A	noncoding	Benign
2	165953863	A	G	A165953863G	TTC21B	Single_allele	noncoding	Benign
2	165954060	C	A	C165954060A	TTC21B	Single_allele	noncoding	Benign
2	165991506	C	A	C165991506A	SCN1A	NM_001165963.4(SCN1A):c.5769G>T:p.Gln1923His	coding	Pathogenic
2	165991506	C	G	C165991506G	SCN1A	NM_001165963.4(SCN1A):c.5769G>C:p.Gln1923His	coding	Pathogenic/Likely_pathogenic
2	165991536	T	C	T165991536C	SCN1A	NM_001165963.4(SCN1A):c.5739A>G:p.Lys1913=	coding	Benign/Likely_benign
2	165991694	G	A	G165991694A	SCN1A	NM_001165963.4(SCN1A):c.5581C>T:p.Arg1861Trp	coding	Pathogenic/Likely_pathogenic
2	165991733	G	A	G165991733A	SCN1A	NM_001165963.4(SCN1A):c.5542C>T:p.Gln1848Ter	coding	Pathogenic
2	165991748	G	A	G165991748A	SCN1A	NM_001165963.4(SCN1A):c.5527C>T:p.Gln1843Ter	coding	Pathogenic
2	165991787	G	A	G165991787A	SCN1A	NM_001165963.4(SCN1A):c.5488C>T:p.Gln1830Ter	coding	Pathogenic
2	165991796	T	A	T165991796A	SCN1A	NM_001165963.4(SCN1A):c.5479A>T:p.Lys1827Ter	coding	Pathogenic
2	165991799	C	A	C165991799A	SCN1A	NM_001165963.4(SCN1A):c.5476G>T:p.Glu1826Ter	coding	Pathogenic
2	165991807	A	G	A165991807G	SCN1A	NM_001165963.4(SCN1A):c.5468T>C:p.Met1823Thr	coding	Pathogenic/Likely_pathogenic
2	165991831	A	G	A165991831G	SCN1A	NM_001165963.4(SCN1A):c.5444T>C:p.Phe1815Ser	coding	Pathogenic
2	165991892	C	A	C165991892A	SCN1A	NM_001165963.4(SCN1A):c.5383G>T:p.Glu1795Ter	coding	Pathogenic
2	165991901	C	T	C165991901T	SCN1A	NM_001165963.4(SCN1A):c.5374G>A:p.Ala1792Thr	coding	Pathogenic
2	165991936	A	G	A165991936G	SCN1A	NM_001165963.4(SCN1A):c.5339T>C:p.Met1780Thr	coding	Pathogenic
2	165991973	T	C	T165991973C	SCN1A	NM_001165963.4(SCN1A):c.5302A>G:p.Ser1768Gly	coding	Pathogenic
2	165991975	A	T	A165991975T	SCN1A	NM_001165963.4(SCN1A):c.5300T>A:p.Val1767Asp	coding	Pathogenic
2	165991981	A	G	A165991981G	SCN1A	NM_001165963.4(SCN1A):c.5294T>C:p.Phe1765Ser	coding	Pathogenic
2	165992008	C	T	C165992008T	SCN1A	NM_001165963.4(SCN1A):c.5267G>A:p.Cys1756Tyr	coding	Pathogenic
2	165992014	C	T	C165992014T	SCN1A	NM_001165963.4(SCN1A):c.5261G>A:p.Gly1754Glu	coding	Pathogenic/Likely_pathogenic
2	165992030	C	T	C165992030T	SCN1A	NM_001165963.4(SCN1A):c.5245G>A:p.Gly1749Arg	coding	Pathogenic/Likely_pathogenic
2	165992080	G	A	G165992080A	SCN1A	NM_001165963.4(SCN1A):c.5195C>T:p.Pro1732Leu	coding	Pathogenic
2	165992092	C	T	C165992092T	SCN1A	NM_001165963.4(SCN1A):c.5183G>A:p.Gly1728Glu	coding	Pathogenic
2	165992093	C	A	C165992093A	SCN1A	NM_001165963.4(SCN1A):c.5182G>T:p.Gly1728Ter	coding	Pathogenic
2	165992098	C	G	C165992098G	SCN1A	NM_001165963.4(SCN1A):c.5177G>C:p.Trp1726Ser	coding	Pathogenic
2	165992104	G	A	G165992104A	SCN1A	NM_001165963.4(SCN1A):c.5171C>T:p.Ala1724Val	coding	Pathogenic
2	165992118	T	G	T165992118G	SCN1A	NM_001165963.4(SCN1A):c.5157A>C:p.Gln1719His	coding	Pathogenic
2	165992127	G	T	G165992127T	SCN1A	NM_001165963.4(SCN1A):c.5148C>A:p.Cys1716Ter	coding	Pathogenic
2	165992155	A	G	A165992155G	SCN1A	NM_001165963.4(SCN1A):c.5120T>C:p.Phe1707Ser	coding	Pathogenic
2	165992221	G	A	G165992221A	SCN1A	NM_001165963.4(SCN1A):c.5054C>T:p.Ala1685Val	coding	Pathogenic
2	165992223	G	T	G165992223T	SCN1A	NM_001165963.4(SCN1A):c.5052C>A:p.Tyr1684Ter	coding	Pathogenic
2	165992224	T	C	T165992224C	SCN1A	NM_001165963.4(SCN1A):c.5051A>G:p.Tyr1684Cys	coding	Pathogenic
2	165992227	A	G	A165992227G	SCN1A	NM_001165963.4(SCN1A):c.5048T>C:p.Ile1683Thr	coding	Pathogenic
2	165992270	C	T	C165992270T	SCN1A	NM_001165963.4(SCN1A):c.5005G>A:p.Ala1669Thr	coding	Pathogenic
2	165992302	G	A	G165992302A	SCN1A	NM_001165963.4(SCN1A):c.4973C>T:p.Thr1658Met	coding	Pathogenic/Likely_pathogenic
2	165992302	G	T	G165992302T	SCN1A	NM_001165963.4(SCN1A):c.4973C>A:p.Thr1658Lys	coding	Pathogenic
2	165992305	C	T	C165992305T	SCN1A	NM_001165963.4(SCN1A):c.4970G>A:p.Arg1657His	coding	Pathogenic
2	165992349	C	G	C165992349G	SCN1A	NM_001165963.4(SCN1A):c.4926G>C:p.Arg1642Ser	coding	Pathogenic
2	165992350	C	A	C165992350A	SCN1A	NM_001165963.4(SCN1A):c.4925G>T:p.Arg1642Met	coding	Pathogenic
2	165992352	A	G	A165992352G	SCN1A	NM_001165963.4(SCN1A):c.4923T>C:p.Ala1641=	coding	Benign/Likely_benign
2	165992354	C	T	C165992354T	SCN1A	NM_001165963.4(SCN1A):c.4921G>A:p.Ala1641Thr	coding	Pathogenic
2	165992413	A	G	A165992413G	SCN1A	NM_001165963.4(SCN1A):c.4862T>C:p.Leu1621Pro	coding	Pathogenic/Likely_pathogenic
2	165992564	T	A	T165992564A	SCN1A	NM_001165963.4(SCN1A):c.4853-142A>T	noncoding	Benign
2	165994203	A	C	A165994203C	SCN1A	NM_001165963.4(SCN1A):c.4795T>G:p.Tyr1599Asp	coding	Pathogenic
2	165994367	T	C	T165994367C	SCN1A	NM_001165963.4(SCN1A):c.4631A>G:p.Asp1544Gly	coding	Pathogenic
2	165994417	C	G	C165994417G	SCN1A	NM_001165963.4(SCN1A):c.4582-1G>C	coding	Pathogenic
2	165996039	G	A	G165996039A	SCN1A	NM_001165963.4(SCN1A):c.4555C>T:p.Pro1519Ser	coding	Pathogenic
2	165996051	C	G	C165996051G	SCN1A	NM_001165963.4(SCN1A):c.4543G>C:p.Gly1515Arg	coding	Pathogenic
2	165996119	T	C	T165996119C	SCN1A	NM_001165963.4(SCN1A):c.4477-2A>G	noncoding	Pathogenic
2	165996120	A	G	A165996120G	SCN1A	NM_001165963.4(SCN1A):c.4477-3T>C	noncoding	Pathogenic
2	165998033	C	T	C165998033T	SCN1A	NM_001165963.4(SCN1A):c.4476+5G>A	noncoding	Pathogenic
2	165998087	T	C	T165998087C	SCN1A	NM_001165963.4(SCN1A):c.4427A>G:p.Asn1476Ser	coding	Pathogenic
2	165998091	A	C	A165998091C	SCN1A	NM_001165963.4(SCN1A):c.4423T>G:p.Leu1475Val	coding	Pathogenic
2	165998096	A	G	A165998096G	SCN1A	NM_001165963.4(SCN1A):c.4418T>C:p.Phe1473Ser	coding	Pathogenic
2	165998124	C	G	C165998124G	SCN1A	NM_001165963.4(SCN1A):c.4390G>C:p.Val1464Leu	coding	Benign
2	165998128	G	C	G165998128C	LOC102724058;SCN1A	NM_001165963.4(SCN1A):c.4386C>G:p.Tyr1462Ter	coding	Pathogenic
2	165998134	A	T	A165998134T	SCN1A	NM_001165963.4(SCN1A):c.4380T>A:p.Tyr1460Ter	coding	Pathogenic
2	165998154	C	T	C165998154T	SCN1A	NM_001165963.4(SCN1A):c.4360G>A:p.Glu1454Lys	coding	Pathogenic
2	165998155	A	C	A165998155C	SCN1A	NM_001165963.4(SCN1A):c.4359T>G:p.Tyr1453Ter	coding	Pathogenic
2	165998155	A	G	A165998155G	SCN1A	NM_001165963.4(SCN1A):c.4359T>C:p.Tyr1453=	coding	Benign/Likely_benign
2	165998156	T	C	T165998156C	SCN1A	NM_001165963.4(SCN1A):c.4358A>G:p.Tyr1453Cys	coding	Pathogenic
2	165998166	G	A	G165998166A	LOC102724058;SCN1A	NM_001165963.4(SCN1A):c.4348C>T:p.Gln1450Ter	coding	Pathogenic
2	165999739	G	A	G165999739A	SCN1A	NM_001165963.4(SCN1A):c.4322C>T:p.Ala1441Val	coding	Pathogenic
2	165999743	C	T	C165999743T	SCN1A	NM_001165963.4(SCN1A):c.4318G>A:p.Ala1440Thr	coding	Pathogenic
2	165999748	A	G	A165999748G	SCN1A	NM_001165963.4(SCN1A):c.4313T>C:p.Met1438Thr	coding	Pathogenic
2	166002293	T	A	T166002293A	SCN1A	NM_001165963.4(SCN1A):c.4284+179A>T	noncoding	Benign
2	166002491	T	C	T166002491C	SCN1A	NM_001165963.4(SCN1A):c.4265A>G:p.Tyr1422Cys	coding	Pathogenic
2	166002509	T	C	T166002509C	SCN1A	NM_001165963.4(SCN1A):c.4247A>G:p.Asp1416Gly	coding	Pathogenic
2	166002522	T	A	T166002522A	SCN1A	NM_001165963.4(SCN1A):c.4234A>T:p.Lys1412Ter	coding	Pathogenic
2	166002547	A	G	A166002547G	SCN1A	NM_001165963.4(SCN1A):c.4209T>C:p.Asn1403=	coding	Benign/Likely_benign
2	166002578	T	G	T166002578G	SCN1A	NM_001165963.4(SCN1A):c.4178A>C:p.His1393Pro	coding	Pathogenic
2	166002629	C	T	C166002629T	SCN1A	NM_001165963.4(SCN1A):c.4127G>A:p.Cys1376Tyr	coding	Pathogenic
2	166002644	C	T	C166002644T	SCN1A	NM_001165963.4(SCN1A):c.4112G>A:p.Gly1371Asp	coding	Pathogenic
2	166002673	G	T	G166002673T	SCN1A	NM_001165963.4(SCN1A):c.4083C>A:p.Phe1361Leu	coding	Pathogenic
2	166002683	C	A	C166002683A	SCN1A	NM_001165963.4(SCN1A):c.4073G>T:p.Trp1358Leu	coding	Pathogenic
2	166002683	C	T	C166002683T	SCN1A	NM_001165963.4(SCN1A):c.4073G>A:p.Trp1358Ter	coding	Pathogenic/Likely_pathogenic
2	166002708	C	T	C166002708T	SCN1A	NM_001165963.4(SCN1A):c.4048G>A:p.Val1350Met	coding	Pathogenic/Likely_pathogenic
2	166002822	A	G	A166002822G	SCN1A	NM_001165963.4(SCN1A):c.4003-69T>C	noncoding	Benign
2	166007297	T	C	T166007297C	SCN1A	NM_001165963.4(SCN1A):c.4002+2422A>G	noncoding	Benign/Likely_benign
2	166007336	C	A	C166007336A	SCN1A	NM_001165963.4(SCN1A):c.4002+2383G>T	noncoding	Benign
2	166007458	T	G	T166007458G	SCN1A	NM_001165963.4(SCN1A):c.4002+2261A>C	noncoding	Benign
2	166007631	G	A	G166007631A	SCN1A	NM_001165963.4(SCN1A):c.4002+2088C>T	noncoding	Benign
2	166007667	T	C	T166007667C	SCN1A	NM_001165963.4(SCN1A):c.4002+2052A>G	noncoding	Benign
2	166007734	G	A	G166007734A	SCN1A	NM_001165963.4(SCN1A):c.4002+1985C>T	noncoding	Benign
2	166009744	G	T	G166009744T	SCN1A	NM_001165963.4(SCN1A):c.3977C>A:p.Ala1326Asp	coding	Pathogenic/Likely_pathogenic
2	166009756	C	G	C166009756G	SCN1A	NM_001165963.4(SCN1A):c.3965G>C:p.Arg1322Thr	coding	Pathogenic
2	166009771	G	C	G166009771C	SCN1A	NM_001165963.4(SCN1A):c.3950C>G:p.Thr1317Arg	coding	Pathogenic
2	166009837	G	C	G166009837C	SCN1A	NM_001165963.4(SCN1A):c.3884C>G:p.Ser1295Ter	coding	Pathogenic
2	166012114	C	G	C166012114G	SCN1A	NM_001165963.4(SCN1A):c.3874G>C:p.Val1292Leu	coding	Pathogenic
2	166012119	A	T	A166012119T	SCN1A	NM_001165963.4(SCN1A):c.3869T>A:p.Leu1290Ter	coding	Pathogenic
2	166012126	C	T	C166012126T	SCN1A	NM_001165963.4(SCN1A):c.3862G>A:p.Asp1288Asn	coding	Pathogenic
2	166012137	C	T	C166012137T	SCN1A	NM_001165963.4(SCN1A):c.3851G>A:p.Trp1284Ter	coding	Pathogenic
2	166012138	A	G	A166012138G	SCN1A	NM_001165963.4(SCN1A):c.3850T>C:p.Trp1284Arg	coding	Pathogenic/Likely_pathogenic
2	166012164	C	T	C166012164T	SCN1A	NM_001165963.4(SCN1A):c.3824G>A:p.Gly1275Asp	coding	Pathogenic/Likely_pathogenic
2	166012175	C	T	C166012175T	SCN1A	NM_001165963.4(SCN1A):c.3813G>A:p.Trp1271Ter	coding	Pathogenic
2	166012262	A	G	A166012262G	SCN1A	NM_001165963.4(SCN1A):c.3726T>C:p.Ile1242=	coding	Benign/Likely_benign
2	166012276	C	A	C166012276A	SCN1A	NM_001165963.4(SCN1A):c.3712G>T:p.Glu1238Ter	coding	Pathogenic
2	166013739	C	T	C166013739T	SCN1A	NM_001165963.4(SCN1A):c.3705+5G>A	noncoding	Pathogenic/Likely_pathogenic
2	166013760	A	G	A166013760G	SCN1A	NM_001165963.4(SCN1A):c.3689T>C:p.Leu1230Pro	coding	Pathogenic
2	166013835	C	T	C166013835T	SCN1A	NM_001165963.4(SCN1A):c.3614G>A:p.Trp1205Ter	coding	Pathogenic
2	166013837	C	T	C166013837T	SCN1A	NM_001165963.4(SCN1A):c.3612G>A:p.Trp1204Ter	coding	Pathogenic
2	166014090	A	G	A166014090G	SCN1A	NM_001165963.4(SCN1A):c.3551-192T>C	noncoding	Benign
2	166035938	A	T	A166035938T	SCN1A	NM_001165963.4(SCN1A):c.3429+110T>A	noncoding	Benign
2	166035940	A	T	A166035940T	SCN1A	NM_001165963.4(SCN1A):c.3429+108T>A	noncoding	Benign
2	166036047	C	A	C166036047A	SCN1A	NM_001165963.4(SCN1A):c.3429+1G>T	noncoding	Pathogenic/Likely_pathogenic
2	166036047	C	T	C166036047T	SCN1A	NM_001165963.4(SCN1A):c.3429+1G>A	noncoding	Pathogenic
2	166036070	G	T	G166036070T	SCN1A	NM_001165963.4(SCN1A):c.3407C>A:p.Ser1136Ter	coding	Pathogenic
2	166036074	C	A	C166036074A	SCN1A	NM_001165963.4(SCN1A):c.3403G>T:p.Glu1135Ter	coding	Pathogenic
2	166036097	A	C	A166036097C	SCN1A	NM_001165963.4(SCN1A):c.3380T>G:p.Leu1127Ter	coding	Pathogenic
2	166036119	C	A	C166036119A	SCN1A	NM_001165963.4(SCN1A):c.3358G>T:p.Gly1120Ter	coding	Pathogenic
2	166036236	C	A	C166036236A	SCN1A	NM_001165963.4(SCN1A):c.3241G>T:p.Gly1081Ter	coding	Pathogenic
2	166036338	C	A	C166036338A	SCN1A	NM_001165963.4(SCN1A):c.3139G>T:p.Glu1047Ter	coding	Pathogenic
2	166036353	G	A	G166036353A	SCN1A	NM_001165963.4(SCN1A):c.3124C>T:p.Gln1042Ter	coding	Pathogenic
2	166036376	A	G	A166036376G	SCN1A	NM_001165963.4(SCN1A):c.3101T>C:p.Ile1034Thr	coding	Benign/Likely_benign
2	166036526	A	G	A166036526G	SCN1A	NM_001165963.4(SCN1A):c.2951T>C:p.Leu984Pro	coding	Pathogenic
2	166036527	G	C	G166036527C	SCN1A	NM_001165963.4(SCN1A):c.2950C>G:p.Leu984Val	coding	Pathogenic
2	166036531	C	T	C166036531T	SCN1A	NM_001165963.4(SCN1A):c.2947-1G>A	coding	Pathogenic
2	166037782	G	T	G166037782T	SCN1A	NM_001165963.4(SCN1A):c.2940C>A:p.Asn980Lys	coding	Pathogenic
2	166037794	C	G	C166037794G	SCN1A	NM_001165963.4(SCN1A):c.2928G>C:p.Met976Ile	coding	Pathogenic
2	166037794	C	T	C166037794T	SCN1A	NM_001165963.4(SCN1A):c.2928G>A:p.Met976Ile	coding	Pathogenic
2	166037795	A	G	A166037795G	SCN1A	NM_001165963.4(SCN1A):c.2927T>C:p.Met976Thr	coding	Pathogenic/Likely_pathogenic
2	166037818	G	T	G166037818T	SCN1A	NM_001165963.4(SCN1A):c.2904C>A:p.Cys968Ter	coding	Pathogenic
2	166037847	A	G	A166037847G	SCN1A	NM_001165963.4(SCN1A):c.2875T>C:p.Cys959Arg	coding	Pathogenic/Likely_pathogenic
2	166037860	C	G	C166037860G	SCN1A	NM_001165963.4(SCN1A):c.2862G>C:p.Glu954Asp	coding	Pathogenic
2	166037866	C	T	C166037866T	SCN1A	NM_001165963.4(SCN1A):c.2856G>A:p.Trp952Ter	coding	Pathogenic
2	166037867	C	T	C166037867T	SCN1A	NM_001165963.4(SCN1A):c.2855G>A:p.Trp952Ter	coding	Pathogenic
2	166037887	G	C	G166037887C	SCN1A	NM_001165963.4(SCN1A):c.2835C>G:p.Phe945Leu	coding	Pathogenic/Likely_pathogenic
2	166037921	A	C	A166037921C	SCN1A	NM_001165963.4(SCN1A):c.2801T>G:p.Met934Arg	coding	Pathogenic
2	166037943	A	G	A166037943G	SCN1A	NM_001165963.4(SCN1A):c.2779T>C:p.Cys927Arg	coding	Pathogenic
2	166038074	A	G	A166038074G	SCN1A	NM_001165963.4(SCN1A):c.2648T>C:p.Ile883Thr	coding	Pathogenic
2	166038103	C	A	C166038103A	SCN1A	NM_001165963.4(SCN1A):c.2619G>T:p.Trp873Cys	coding	Pathogenic
2	166038104	C	T	C166038104T	SCN1A	NM_001165963.4(SCN1A):c.2618G>A:p.Trp873Ter	coding	Pathogenic
2	166038126	C	G	C166038126G	SCN1A	NM_001165963.4(SCN1A):c.2596G>C:p.Val866Leu	coding	Pathogenic
2	166038133	C	T	C166038133T	SCN1A	NM_001165963.4(SCN1A):c.2590-1G>A	coding	Pathogenic
2	166038371	T	C	T166038371C	SCN1A	NM_001165963.4(SCN1A):c.2590-239A>G	noncoding	Benign
2	166039427	C	A	C166039427A	SCN1A	NM_001165963.4(SCN1A):c.2585G>T:p.Arg862Leu	coding	Pathogenic/Likely_pathogenic
2	166039490	G	C	G166039490C	SCN1A	NM_001165963.4(SCN1A):c.2522C>G:p.Thr841Arg	coding	Pathogenic
2	166039516	C	T	C166039516T	SCN1A	NM_001165963.4(SCN1A):c.2496G>A:p.Trp832Ter	coding	Pathogenic
2	166039537	G	T	G166039537T	SCN1A	NM_001165963.4(SCN1A):c.2475C>A:p.Tyr825Ter	coding	Pathogenic
2	166039572	C	A	C166039572A	SCN1A	NM_001165963.4(SCN1A):c.2440G>T:p.Glu814Ter	coding	Pathogenic
2	166041374	T	G	T166041374G	SCN1A	NM_001165963.4(SCN1A):c.2272A>C:p.Lys758Gln	coding	Pathogenic
2	166041402	C	T	C166041402T	SCN1A	NM_001165963.4(SCN1A):c.2244G>A:p.Trp748Ter	coding	Pathogenic
2	166041410	A	G	A166041410G	SCN1A	NM_001165963.4(SCN1A):c.2236T>C:p.Leu746=	coding	Benign/Likely_benign
2	166041429	A	C	A166041429C	SCN1A	NM_001165963.4(SCN1A):c.2217T>G:p.Tyr739Ter	coding	Pathogenic
2	166041498	C	G	C166041498G	SCN1A	NM_001165963.4(SCN1A):c.2177-29G>C	noncoding	Benign
2	166042291	C	A	C166042291A	SCN1A	NM_001165963.4(SCN1A):c.2176+1G>T	noncoding	Pathogenic
2	166042295	C	A	C166042295A	SCN1A	NM_001165963.4(SCN1A):c.2173G>T:p.Glu725Ter	coding	Pathogenic
2	166042424	C	A	C166042424A	SCN1A	NM_001165963.4(SCN1A):c.2044G>T:p.Gly682Ter	coding	Pathogenic
2	166045180	G	A	G166045180A	SCN1A	NM_001165963.4(SCN1A):c.1525C>T:p.Gln509Ter	coding	Pathogenic
2	166045266	G	C	G166045266C	SCN1A	NM_001165963.4(SCN1A):c.1439C>G:p.Ser480Ter	coding	Pathogenic
2	166045266	G	T	G166045266T	SCN1A	NM_001165963.4(SCN1A):c.1439C>A:p.Ser480Ter	coding	Pathogenic
2	166046678	A	C	A166046678C	SCN1A	NM_001165963.4(SCN1A):c.1377+92T>G	noncoding	Benign
2	166046883	C	A	C166046883A	SCN1A	NM_001165963.4(SCN1A):c.1264G>T:p.Val422Leu	coding	Pathogenic
2	166046915	G	T	G166046915T	SCN1A	NM_001165963.4(SCN1A):c.1232C>A:p.Ser411Ter	coding	Pathogenic
2	166046978	T	C	T166046978C	SCN1A	NM_001165963.4(SCN1A):c.1171-2A>G	noncoding	Pathogenic
2	166047633	A	T	A166047633T	SCN1A	NM_001165963.4(SCN1A):c.1164T>A:p.Tyr388Ter	coding	Pathogenic
2	166047664	A	G	A166047664G	SCN1A	NM_001165963.4(SCN1A):c.1133T>C:p.Leu378Pro	coding	Pathogenic
2	166047667	C	T	C166047667T	SCN1A	NM_001165963.4(SCN1A):c.1130G>A:p.Arg377Gln	coding	Pathogenic/Likely_pathogenic
2	166047688	C	T	C166047688T	SCN1A	NM_001165963.4(SCN1A):c.1109G>A:p.Trp370Ter	coding	Pathogenic
2	166047710	T	G	T166047710G	SCN1A	NM_001165963.4(SCN1A):c.1087A>C:p.Thr363Pro	coding	Pathogenic/Likely_pathogenic
2	166047780	G	A	G166047780A	SCN1A	NM_001165963.4(SCN1A):c.1029-12C>T	noncoding	Benign
2	166047815	T	C	T166047815C	SCN1A	NM_001165963.4(SCN1A):c.1029-47A>G	noncoding	Benign
2	166048886	C	T	C166048886T	SCN1A	NM_001165963.4(SCN1A):c.1028G>A:p.Gly343Asp	coding	Pathogenic/Likely_pathogenic
2	166048887	C	G	C166048887G	SCN1A	NM_001165963.4(SCN1A):c.1027G>C:p.Gly343Arg	coding	Pathogenic
2	166048895	G	T	G166048895T	SCN1A	NM_001165963.4(SCN1A):c.1019C>A:p.Ser340Tyr	coding	Pathogenic
2	166048906	A	T	A166048906T	SCN1A	NM_001165963.4(SCN1A):c.1008T>A:p.Cys336Ter	coding	Pathogenic
2	166048949	C	A	C166048949A	SCN1A	NM_001165963.4(SCN1A):c.965G>T:p.Arg322Ile	coding	Pathogenic
2	166048954	T	C	T166048954C	SCN1A	NM_001165963.4(SCN1A):c.965-5A>G	noncoding	Pathogenic
2	166051721	G	C	G166051721C	SCN1A	NM_001165963.4(SCN1A):c.962C>G:p.Ser321Ter	coding	Pathogenic
2	166051741	C	T	C166051741T	SCN1A	NM_001165963.4(SCN1A):c.942G>A:p.Trp314Ter	coding	Pathogenic
2	166051748	A	G	A166051748G	SCN1A	NM_001165963.4(SCN1A):c.935T>C:p.Phe312Ser	coding	Pathogenic
2	166051764	C	A	C166051764A	SCN1A	NM_001165963.4(SCN1A):c.919G>T:p.Glu307Ter	coding	Pathogenic
2	166051843	C	T	C166051843T	SCN1A	NM_001165963.4(SCN1A):c.840G>A:p.Trp280Ter	coding	Pathogenic
2	166051848	G	A	G166051848A	SCN1A	NM_001165963.4(SCN1A):c.835C>T:p.Gln279Ter	coding	Pathogenic
2	166051855	T	G	T166051855G	SCN1A	NM_001165963.4(SCN1A):c.828A>C:p.Lys276Asn	coding	Pathogenic
2	166051871	C	A	C166051871A	SCN1A	NM_001165963.4(SCN1A):c.812G>T:p.Gly271Val	coding	Pathogenic/Likely_pathogenic
2	166051872	C	T	C166051872T	SCN1A	NM_001165963.4(SCN1A):c.811G>A:p.Gly271Ser	coding	Pathogenic
2	166051928	A	G	A166051928G	SCN1A	NM_001165963.4(SCN1A):c.755T>C:p.Ile252Thr	coding	Pathogenic
2	166051928	A	T	A166051928T	SCN1A	NM_001165963.4(SCN1A):c.755T>A:p.Ile252Asn	coding	Pathogenic
2	166051943	A	G	A166051943G	SCN1A	NM_001165963.4(SCN1A):c.740T>C:p.Leu247Pro	coding	Pathogenic
2	166052887	A	T	A166052887T	SCN1A	NM_001165963.4(SCN1A):c.659T>A:p.Val220Asp	coding	Pathogenic
2	166052891	T	C	T166052891C	SCN1A	NM_001165963.4(SCN1A):c.655A>G:p.Arg219Gly	coding	Pathogenic/Likely_pathogenic
2	166052894	A	G	A166052894G	SCN1A	NM_001165963.4(SCN1A):c.652T>C:p.Phe218Leu	coding	Pathogenic/Likely_pathogenic
2	166054638	G	T	G166054638T	SCN1A	NM_001165963.4(SCN1A):c.602C>A:p.Ala201Glu	coding	Pathogenic
2	166054682	A	G	A166054682G	SCN1A	NM_001165963.4(SCN1A):c.558T>C:p.Leu186=	coding	Benign/Likely_benign
2	166054726	T	A	T166054726A	SCN1A	NM_001165963.4(SCN1A):c.514A>T:p.Lys172Ter	coding	Pathogenic
2	166054734	G	C	G166054734C	SCN1A	NM_001165963.4(SCN1A):c.506C>G:p.Ser169Ter	coding	Pathogenic
2	166054747	A	G	A166054747G	SCN1A	NM_001165963.4(SCN1A):c.493T>C:p.Tyr165His	coding	Pathogenic/Likely_pathogenic
2	166054755	G	A	G166054755A	SCN1A	NM_001165963.4(SCN1A):c.485C>T:p.Thr162Ile	coding	Pathogenic/Likely_pathogenic
2	166054763	G	T	G166054763T	SCN1A	NM_001165963.4(SCN1A):c.477C>A:p.Tyr159Ter	coding	Pathogenic
2	166054768	T	C	T166054768C	SCN1A	NM_001165963.4(SCN1A):c.474-2A>G	noncoding	Pathogenic
2	166056406	C	T	C166056406T	SCN1A	NM_001165963.4(SCN1A):c.473+5G>A	noncoding	Pathogenic
2	166056475	T	G	T166056475G	SCN1A	NM_001165963.4(SCN1A):c.409A>C:p.Thr137Pro	coding	Pathogenic
2	166056498	A	C	A166056498C	SCN1A	NM_001165963.4(SCN1A):c.386T>G:p.Leu129Ter	coding	Pathogenic
2	166058235	C	T	C166058235T	SCN1A	NM_001165963.4(SCN1A):c.383+335G>A	noncoding	Benign
2	166058570	G	T	G166058570T	SCN1A	NM_001165963.4(SCN1A):c.383C>A:p.Ser128Ter	coding	Pathogenic
2	166058574	G	A	G166058574A	SCN1A	NM_001165963.4(SCN1A):c.379C>T:p.His127Tyr	coding	Pathogenic/Likely_pathogenic
2	166058642	G	T	G166058642T	SCN1A	NM_001165963.4(SCN1A):c.311C>A:p.Ala104Asp	coding	Pathogenic
2	166058648	A	G	A166058648G	SCN1A	NM_001165963.4(SCN1A):c.305T>C:p.Phe102Ser	coding	Pathogenic
2	166058673	T	A	T166058673A	SCN1A	NM_001165963.4(SCN1A):c.280A>T:p.Asn94Tyr	coding	Pathogenic
2	166058681	A	G	A166058681G	SCN1A	NM_001165963.4(SCN1A):c.272T>C:p.Ile91Thr	coding	Pathogenic
2	166073370	A	T	A166073370T	SCN1A	NM_001165963.4(SCN1A):c.252T>A:p.Tyr84Ter	coding	Pathogenic
2	166073374	T	C	T166073374C	SCN1A	NM_001165963.4(SCN1A):c.248A>G:p.Tyr83Cys	coding	Pathogenic
2	166073375	A	C	A166073375C	SCN1A	NM_001165963.4(SCN1A):c.247T>G:p.Tyr83Asp	coding	Pathogenic
2	166073379	G	T	G166073379T	SCN1A	NM_001165963.4(SCN1A):c.243C>A:p.Asp81Glu	coding	Pathogenic
2	166073392	A	G	A166073392G	SCN1A	NM_001165963.4(SCN1A):c.230T>C:p.Leu77Pro	coding	Pathogenic/Likely_pathogenic
2	166073427	A	C	A166073427C	SCN1A	NM_001165963.4(SCN1A):c.195T>G:p.Tyr65Ter	coding	Pathogenic
2	166073441	G	A	G166073441A	SCN1A	NM_001165963.4(SCN1A):c.181C>T:p.Leu61Phe	coding	Pathogenic
2	166073546	C	A	C166073546A	SCN1A	NM_001165963.4(SCN1A):c.76G>T:p.Glu26Ter	coding	Pathogenic
2	166073553	C	T	C166073553T	SCN1A	NM_001165963.4(SCN1A):c.69G>A:p.Ala23=	coding	Benign
2	166073704	T	A	T166073704A	SCN1A	NM_001165963.4(SCN1A):c.-49-34A>T	noncoding	Benign
2	166199515	A	G	A166199515G	SCN9A	NM_001365536.1(SCN9A):c.5124T>C:p.Leu1708=	coding	Benign
2	166199521	A	G	A166199521G	SCN9A	NM_001365536.1(SCN9A):c.5118T>C:p.Pro1706=	coding	Benign
2	166199539	C	T	C166199539T	SCN9A	NM_001365536.1(SCN9A):c.5100G>A:p.Trp1700Ter	coding	Pathogenic
2	166199631	T	A	T166199631A	SCN9A	NM_001365536.1(SCN9A):c.5008A>T:p.Lys1670Ter	coding	Pathogenic/Likely_pathogenic
2	166199635	A	C	A166199635C	SCN9A	NM_001365536.1(SCN9A):c.5004T>G:p.Tyr1668Ter	coding	Pathogenic
2	166199635	A	T	A166199635T	SCN9A	NM_001365536.1(SCN9A):c.5004T>A:p.Tyr1668Ter	coding	Pathogenic
2	166199784	G	A	G166199784A	SCN9A	NM_001365536.1(SCN9A):c.4855C>T:p.Arg1619Ter	coding	Pathogenic
2	166199811	G	A	G166199811A	SCN9A	NM_001365536.1(SCN9A):c.4828C>T:p.Arg1610Ter	coding	Pathogenic
2	166204084	A	G	A166204084G	SCN9A	NM_001365536.1(SCN9A):c.4645T>C:p.Trp1549Arg	coding	Benign/Likely_benign
2	166228849	A	G	A166228849G	SCN9A	NM_001365536.1(SCN9A):c.4048T>C:p.Cys1350Arg	coding	Pathogenic
2	166238093	C	T	C166238093T	SCN9A	NM_001365536.1(SCN9A):c.3801+1G>A	noncoding	Pathogenic
2	166251886	C	T	C166251886T	SCN9A	NM_001365536.1(SCN9A):c.3352-1G>A	coding	Pathogenic
2	166277137	C	T	C166277137T	SCN9A	NM_001365536.1(SCN9A):c.2720G>A:p.Arg907Gln	coding	Pathogenic
2	166278150	G	T	G166278150T	SCN9A	NM_001365536.1(SCN9A):c.2507C>A:p.Ser836Ter	coding	Pathogenic
2	166278248	A	T	A166278248T	SCN9A	NM_001365536.1(SCN9A):c.2409T>A:p.Tyr803Ter	coding	Pathogenic
2	166280340	C	T	C166280340T	SCN9A	NM_001365536.1(SCN9A):c.2343+17G>A	noncoding	Benign
2	166286436	G	T	G166286436T	SCN9A	NM_001365536.1(SCN9A):c.1502C>A:p.Ser501Ter	coding	Pathogenic
2	166288553	C	T	C166288553T	SCN9A	NM_001365536.1(SCN9A):c.1198G>A:p.Val400Met	coding	Pathogenic/Likely_pathogenic
2	166288645	T	C	T166288645C	SCN9A	NM_001365536.1(SCN9A):c.1108-2A>G	noncoding	Pathogenic
2	166293183	G	A	G166293183A	SCN9A	NM_001365536.1(SCN9A):c.1107+48C>T	noncoding	Benign
2	166294649	G	T	G166294649T	SCN9A	NM_001365536.1(SCN9A):c.915C>A:p.Tyr305Ter	coding	Pathogenic
2	166303322	G	C	G166303322C	SCN9A	NM_001365536.1(SCN9A):c.689-20C>G	noncoding	Benign/Likely_benign
2	166305767	G	A	G166305767A	SCN9A	NM_001365536.1(SCN9A):c.596+25C>T	noncoding	Benign
2	166305791	C	T	C166305791T	SCN9A	NM_001365536.1(SCN9A):c.596+1G>A	noncoding	Pathogenic
2	166306949	A	C	A166306949C	SCN9A	NM_001365536.1(SCN9A):c.377+7T>G	noncoding	Pathogenic
2	166311498	C	T	C166311498T	SCN9A	NM_001365536.1(SCN9A):c.258+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	168923684	C	A	C168923684A	ABCB11	NM_003742.4(ABCB11):c.3904G>T:p.Glu1302Ter	coding	Pathogenic
2	168923816	G	A	G168923816A	ABCB11	NM_003742.4(ABCB11):c.3772C>T:p.Gln1258Ter	coding	Pathogenic
2	168923856	T	C	T168923856C	ABCB11	NM_003742.4(ABCB11):c.3766-34A>G	noncoding	Benign
2	168924375	T	C	T168924375C	ABCB11	NM_003742.4(ABCB11):c.3765+282A>G	noncoding	Benign
2	168924451	T	C	T168924451C	ABCB11	NM_003742.4(ABCB11):c.3765+206A>G	noncoding	Benign
2	168924719	G	A	G168924719A	ABCB11	NM_003742.4(ABCB11):c.3703C>T:p.Arg1235Ter	coding	Pathogenic
2	168924760	C	T	C168924760T	ABCB11	NM_003742.4(ABCB11):c.3662G>A:p.Arg1221Lys	coding	Pathogenic
2	168927316	C	T	C168927316T	ABCB11	NM_003742.4(ABCB11):c.3458G>A:p.Arg1153His	coding	Pathogenic
2	168930676	G	A	G168930676A	ABCB11	NM_003742.4(ABCB11):c.3400C>T:p.Gln1134Ter	coding	Pathogenic
2	168932796	T	C	T168932796C	ABCB11	NM_003742.4(ABCB11):c.3057-263A>G	noncoding	Benign
2	168934928	A	G	A168934928G	ABCB11	NM_003742.4(ABCB11):c.3056+256T>C	noncoding	Benign
2	168935085	T	C	T168935085C	ABCB11	NM_003742.4(ABCB11):c.3056+99A>G	noncoding	Benign
2	168935461	C	T	C168935461T	ABCB11	NM_003742.4(ABCB11):c.2815-36G>A	noncoding	Benign
2	168935566	C	T	C168935566T	ABCB11	NM_003742.4(ABCB11):c.2815-141G>A	noncoding	Benign
2	168935606	T	C	T168935606C	ABCB11	NM_003742.4(ABCB11):c.2815-181A>G	noncoding	Benign
2	168935614	A	C	A168935614C	ABCB11	NM_003742.4(ABCB11):c.2815-189T>G	noncoding	Benign
2	168935661	C	T	C168935661T	ABCB11	NM_003742.4(ABCB11):c.2815-236G>A	noncoding	Benign
2	168935678	C	G	C168935678G	ABCB11	NM_003742.4(ABCB11):c.2815-253G>C	noncoding	Benign
2	168944431	A	G	A168944431G	ABCB11	NM_003742.4(ABCB11):c.2610+174T>C	noncoding	Benign
2	168944868	G	A	G168944868A	ABCB11	NM_003742.4(ABCB11):c.2437C>T:p.Gln813Ter	coding	Pathogenic
2	168945118	A	C	A168945118C	ABCB11	NM_003742.4(ABCB11):c.2344-157T>G	noncoding	Benign
2	168957837	A	G	A168957837G	ABCB11	NM_003742.4(ABCB11):c.2343+127T>C	noncoding	Benign
2	168957962	A	G	A168957962G	ABCB11	NM_003742.4(ABCB11):c.2343+2T>C	noncoding	Pathogenic
2	168957963	C	A	C168957963A	ABCB11	NM_003742.4(ABCB11):c.2343+1G>T	noncoding	Pathogenic/Likely_pathogenic
2	168958051	C	T	C168958051T	ABCB11	NM_003742.4(ABCB11):c.2256G>A:p.Trp752Ter	coding	Pathogenic
2	168958397	A	G	A168958397G	ABCB11	NM_003742.4(ABCB11):c.2179-269T>C	noncoding	Benign
2	168964108	A	G	A168964108G	ABCB11	NM_003742.4(ABCB11):c.2178+98T>C	noncoding	Benign
2	168964109	T	C	T168964109C	ABCB11	NM_003742.4(ABCB11):c.2178+97A>G	noncoding	Benign
2	168964588	A	G	A168964588G	ABCB11	NM_003742.4(ABCB11):c.2076-280T>C	noncoding	Benign
2	168964622	A	G	A168964622G	ABCB11	NM_003742.4(ABCB11):c.2076-314T>C	noncoding	Benign
2	168968233	C	A	C168968233A	ABCB11	NM_003742.4(ABCB11):c.2075+194G>T	noncoding	Benign
2	168968239	C	A	C168968239A	ABCB11	NM_003742.4(ABCB11):c.2075+188G>T	noncoding	Benign
2	168968424	T	C	T168968424C	ABCB11	NM_003742.4(ABCB11):c.2075+3A>G	noncoding	Pathogenic
2	168969132	G	A	G168969132A	ABCB11	NM_003742.4(ABCB11):c.2011+218C>T	noncoding	Benign
2	168969927	A	G	A168969927G	ABCB11	NM_003742.4(ABCB11):c.1809+118T>C	noncoding	Benign
2	168969959	C	T	C168969959T	ABCB11	NM_003742.4(ABCB11):c.1809+86G>A	noncoding	Benign
2	168970367	C	T	C168970367T	ABCB11	NM_003742.4(ABCB11):c.1639-152G>A	noncoding	Benign
2	168970479	G	T	G168970479T	ABCB11	NM_003742.4(ABCB11):c.1639-264C>A	noncoding	Benign
2	168970488	A	G	A168970488G	ABCB11	NM_003742.4(ABCB11):c.1639-273T>C	noncoding	Benign
2	168970507	A	G	A168970507G	ABCB11	NM_003742.4(ABCB11):c.1639-292T>C	noncoding	Benign
2	168970508	C	T	C168970508T	ABCB11	NM_003742.4(ABCB11):c.1639-293G>A	noncoding	Benign
2	168971767	G	A	G168971767A	ABCB11	NM_003742.4(ABCB11):c.1638+80C>T	noncoding	Benign
2	168971815	A	G	A168971815G	ABCB11	NM_003742.4(ABCB11):c.1638+32T>C	noncoding	Benign
2	168971864	T	G	T168971864G	ABCB11	NM_003742.4(ABCB11):c.1621A>C:p.Ile541Leu	coding	Pathogenic
2	168971992	A	G	A168971992G	ABCB11	NM_003742.4(ABCB11):c.1493T>C:p.Ile498Thr	coding	Pathogenic/Likely_pathogenic
2	168972025	C	G	C168972025G	ABCB11	NM_003742.4(ABCB11):c.1460G>C:p.Arg487Pro	coding	Pathogenic
2	168972194	T	C	T168972194C	ABCB11	NM_003742.4(ABCB11):c.1435-144A>G	noncoding	Benign
2	168973541	C	T	C168973541T	ABCB11	NM_003742.4(ABCB11):c.1434+174G>A	noncoding	Benign
2	168973645	G	A	G168973645A	ABCB11	NM_003742.4(ABCB11):c.1434+70C>T	noncoding	Benign
2	168973720	C	A	C168973720A	ABCB11	NM_003742.4(ABCB11):c.1429G>T:p.Gly477Ter	coding	Pathogenic
2	168973734	T	C	T168973734C	ABCB11	NM_003742.4(ABCB11):c.1415A>G:p.Tyr472Cys	coding	Pathogenic
2	168973744	G	A	G168973744A	ABCB11	NM_003742.4(ABCB11):c.1405C>T:p.Gln469Ter	coding	Pathogenic
2	168973933	C	T	C168973933T	ABCB11	NM_003742.4(ABCB11):c.1309-93G>A	noncoding	Benign
2	168974005	G	A	G168974005A	ABCB11	NM_003742.4(ABCB11):c.1309-165C>T	noncoding	Benign
2	168974151	G	A	G168974151A	ABCB11	NM_003742.4(ABCB11):c.1309-311C>T	noncoding	Benign
2	168976242	C	T	C168976242T	ABCB11	NM_003742.4(ABCB11):c.1308+335G>A	noncoding	Benign
2	168976251	G	C	G168976251C	ABCB11	NM_003742.4(ABCB11):c.1308+326C>G	noncoding	Benign
2	168976455	C	T	C168976455T	ABCB11	NM_003742.4(ABCB11):c.1308+122G>A	noncoding	Benign
2	168976642	G	A	G168976642A	ABCB11	NM_003742.4(ABCB11):c.1243C>T:p.Arg415Ter	coding	Pathogenic
2	168976937	G	T	G168976937T	ABCB11	NM_003742.4(ABCB11):c.1198-250C>A	noncoding	Benign
2	168976989	C	A	C168976989A	ABCB11	NM_003742.4(ABCB11):c.1198-302G>T	noncoding	Benign
2	168980188	T	G	T168980188G	ABCB11	NM_003742.4(ABCB11):c.1084-209A>C	noncoding	Benign
2	168980220	T	C	T168980220C	ABCB11	NM_003742.4(ABCB11):c.1084-241A>G	noncoding	Benign
2	168980238	C	T	C168980238T	ABCB11	NM_003742.4(ABCB11):c.1084-259G>A	noncoding	Benign
2	168986315	G	A	G168986315A	ABCB11	NM_003742.4(ABCB11):c.909-31C>T	noncoding	Benign
2	168986353	G	A	G168986353A	ABCB11	NM_003742.4(ABCB11):c.909-69C>T	noncoding	Benign
2	168986391	G	A	G168986391A	ABCB11	NM_003742.4(ABCB11):c.909-107C>T	noncoding	Benign
2	168990693	T	C	T168990693C	ABCB11	NM_003742.4(ABCB11):c.908+108A>G	noncoding	Benign
2	168990916	T	A	T168990916A	ABCB11	NM_003742.4(ABCB11):c.793A>T:p.Lys265Ter	coding	Pathogenic
2	168991034	T	G	T168991034G	ABCB11	NM_003742.4(ABCB11):c.784-109A>C	noncoding	Benign
2	168991248	T	G	T168991248G	ABCB11	NM_003742.4(ABCB11):c.784-323A>C	noncoding	Benign
2	168993426	A	G	A168993426G	ABCB11	NM_003742.4(ABCB11):c.783+285T>C	noncoding	Benign
2	168993585	A	T	A168993585T	ABCB11	NM_003742.4(ABCB11):c.783+126T>A	noncoding	Benign
2	168993817	G	A	G168993817A	ABCB11	NM_003742.4(ABCB11):c.677C>T:p.Ser226Leu	coding	Pathogenic
2	168993830	G	A	G168993830A	ABCB11	NM_003742.4(ABCB11):c.664C>T:p.Gln222Ter	coding	Pathogenic
2	168995160	G	C	G168995160C	ABCB11	NM_003742.4(ABCB11):c.611+189C>G	noncoding	Benign
2	168995348	C	T	C168995348T	ABCB11	NM_003742.4(ABCB11):c.611+1G>A	noncoding	Pathogenic
2	168995461	C	T	C168995461T	ABCB11	NM_003742.4(ABCB11):c.499G>A:p.Ala167Thr	coding	Pathogenic
2	168995477	G	T	G168995477T	ABCB11	NM_003742.4(ABCB11):c.483C>A:p.Cys161Ter	coding	Pathogenic
2	168995611	C	T	C168995611T	ABCB11	NM_003742.4(ABCB11):c.478-129G>A	noncoding	Benign
2	168995673	A	G	A168995673G	ABCB11	NM_003742.4(ABCB11):c.478-191T>C	noncoding	Benign
2	168996813	T	A	T168996813A	ABCB11	NM_003742.4(ABCB11):c.390-91A>T	noncoding	Benign
2	169012952	A	G	A169012952G	ABCB11	NM_003742.4(ABCB11):c.389+320T>C	noncoding	Benign
2	169013182	G	C	G169013182C	ABCB11	NM_003742.4(ABCB11):c.389+90C>G	noncoding	Benign
2	169013497	G	T	G169013497T	ABCB11	NM_003742.4(ABCB11):c.164C>A:p.Ser55Ter	coding	Pathogenic
2	169013785	C	A	C169013785A	ABCB11	NM_003742.4(ABCB11):c.151-275G>T	noncoding	Benign
2	169016695	G	A	G169016695A	ABCB11	NM_003742.4(ABCB11):c.98+83C>T	noncoding	Benign
2	169018202	C	T	C169018202T	ABCB11	NM_003742.4(ABCB11):c.-27-50G>A	noncoding	Benign
2	169031103	T	A	T169031103A	ABCB11	NM_003742.4(ABCB11):c.-28+122A>T	noncoding	Benign
2	169128908	T	C	T169128908C	LRP2	NM_004525.3(LRP2):c.13801-78A>G	noncoding	Benign
2	169129060	G	A	G169129060A	LRP2	NM_004525.3(LRP2):c.13753C>T:p.Arg4585Ter	coding	Pathogenic/Likely_pathogenic
2	169132436	T	A	T169132436A	LRP2	NM_004525.3(LRP2):c.13728+138A>T	noncoding	Benign
2	169132505	T	G	T169132505G	LRP2	NM_004525.3(LRP2):c.13728+69A>C	noncoding	Benign
2	169132561	C	T	C169132561T	LRP2	NM_004525.3(LRP2):c.13728+13G>A	noncoding	Benign
2	169132610	C	T	C169132610T	LRP2	NM_004525.3(LRP2):c.13692G>A:p.Glu4564=	coding	Benign
2	169132845	A	G	A169132845G	LRP2	NM_004525.3(LRP2):c.13621-164T>C	noncoding	Benign
2	169137402	T	G	T169137402G	LRP2	NM_004525.3(LRP2):c.13610A>C:p.Gln4537Pro	coding	Benign/Likely_benign
2	169137649	C	A	C169137649A	LRP2	NM_004525.3(LRP2):c.13519-156G>T	noncoding	Benign
2	169139071	C	T	C169139071T	LRP2	NM_004525.3(LRP2):c.13388+180G>A	noncoding	Benign
2	169139280	G	A	G169139280A	LRP2	NM_004525.3(LRP2):c.13359C>T:p.Ser4453=	coding	Benign/Likely_benign
2	169139612	T	C	T169139612C	LRP2	NM_004525.3(LRP2):c.13200-2A>G	noncoding	Pathogenic
2	169140610	A	C	A169140610C	LRP2	NM_004525.3(LRP2):c.13109-65T>G	noncoding	Benign
2	169145551	A	T	A169145551T	LRP2	NM_004525.3(LRP2):c.12988+196T>A	noncoding	Benign
2	169145573	G	T	G169145573T	LRP2	NM_004525.3(LRP2):c.12988+174C>A	noncoding	Benign
2	169145990	C	T	C169145990T	LRP2	NM_004525.3(LRP2):c.12812-67G>A	noncoding	Benign
2	169146861	C	T	C169146861T	LRP2	NM_004525.3(LRP2):c.12689G>A:p.Trp4230Ter	coding	Pathogenic
2	169146998	G	A	G169146998A	LRP2	NM_004525.3(LRP2):c.12591-39C>T	noncoding	Benign
2	169147128	G	A	G169147128A	LRP2	NM_004525.3(LRP2):c.12591-169C>T	noncoding	Benign
2	169150932	G	A	G169150932A	LRP2	NM_004525.3(LRP2):c.12556C>T:p.Gln4186Ter	coding	Pathogenic
2	169154321	C	T	C169154321T	LRP2	NM_004525.3(LRP2):c.12295+139G>A	noncoding	Benign
2	169154568	G	A	G169154568A	LRP2	NM_004525.3(LRP2):c.12187C>T:p.Arg4063Ter	coding	Pathogenic
2	169154898	C	G	C169154898G	LRP2	NM_004525.3(LRP2):c.12152-295G>C	noncoding	Benign
2	169157352	T	A	T169157352A	LRP2	NM_004525.3(LRP2):c.12019+19A>T	noncoding	Benign
2	169162860	C	T	C169162860T	LRP2	NM_004525.3(LRP2):c.11759-260G>A	noncoding	Benign
2	169165789	T	C	T169165789C	LRP2	NM_004525.3(LRP2):c.11758+143A>G	noncoding	Benign
2	169168830	C	T	C169168830T	LRP2	NM_004525.3(LRP2):c.11498-154G>A	noncoding	Benign
2	169169008	G	A	G169169008A	LRP2	NM_004525.3(LRP2):c.11498-332C>T	noncoding	Benign
2	169170086	C	T	C169170086T	LRP2	NM_004525.3(LRP2):c.11381-268G>A	noncoding	Benign
2	169170257	T	A	T169170257A	LRP2	NM_004525.3(LRP2):c.11380+294A>T	noncoding	Benign
2	169170608	G	A	G169170608A	LRP2	NM_004525.3(LRP2):c.11323C>T:p.Arg3775Ter	coding	Pathogenic
2	169171997	A	G	A169171997G	LRP2	NM_004525.3(LRP2):c.11263+18T>C	noncoding	Benign
2	169173290	T	C	T169173290C	LRP2	NM_004525.3(LRP2):c.11015-66A>G	noncoding	Benign
2	169173412	C	A	C169173412A	LRP2	NM_004525.3(LRP2):c.11015-188G>T	noncoding	Benign
2	169173512	T	C	T169173512C	LRP2	NM_004525.3(LRP2):c.11015-288A>G	noncoding	Benign
2	169174311	T	C	T169174311C	LRP2	NM_004525.3(LRP2):c.10769-147A>G	noncoding	Benign
2	169174407	C	A	C169174407A	LRP2	NM_004525.3(LRP2):c.10769-243G>T	noncoding	Benign
2	169175181	G	A	G169175181A	LRP2	NM_004525.3(LRP2):c.10768+12C>T	noncoding	Benign/Likely_benign
2	169175301	G	A	G169175301A	LRP2	NM_004525.3(LRP2):c.10660C>T:p.Arg3554Ter	coding	Pathogenic
2	169175386	G	T	G169175386T	LRP2	NM_004525.3(LRP2):c.10575C>A:p.Cys3525Ter	coding	Pathogenic
2	169176446	G	A	G169176446A	LRP2	NM_004525.3(LRP2):c.10536C>T:p.Cys3512=	coding	Benign
2	169177485	T	C	T169177485C	LRP2	NM_004525.3(LRP2):c.10393+318A>G	noncoding	Benign
2	169178041	A	C	A169178041C	LRP2	NM_004525.3(LRP2):c.10170-15T>G	noncoding	Benign/Likely_benign
2	169181638	G	A	G169181638A	LRP2	NM_004525.3(LRP2):c.9999-20C>T	noncoding	Benign
2	169181721	A	T	A169181721T	LRP2	NM_004525.3(LRP2):c.9999-103T>A	noncoding	Benign
2	169181752	A	C	A169181752C	LRP2	NM_004525.3(LRP2):c.9999-134T>G	noncoding	Benign
2	169181753	T	C	T169181753C	LRP2	NM_004525.3(LRP2):c.9999-135A>G	noncoding	Benign
2	169181788	A	T	A169181788T	LRP2	NM_004525.3(LRP2):c.9999-170T>A	noncoding	Benign
2	169182061	C	T	C169182061T	LRP2	NM_004525.3(LRP2):c.9998+106G>A	noncoding	Benign
2	169182102	C	T	C169182102T	LRP2	NM_004525.3(LRP2):c.9998+65G>A	noncoding	Benign
2	169182525	T	G	T169182525G	LRP2	NM_004525.3(LRP2):c.9846-206A>C	noncoding	Benign
2	169182537	G	A	G169182537A	LRP2	NM_004525.3(LRP2):c.9846-218C>T	noncoding	Benign
2	169185185	C	T	C169185185T	LRP2	NM_004525.3(LRP2):c.9845+318G>A	noncoding	Benign
2	169192046	C	T	C169192046T	LRP2	NM_004525.3(LRP2):c.8831-13G>A	noncoding	Benign
2	169193633	G	A	G169193633A	LRP2	NM_004525.3(LRP2):c.8830+128C>T	noncoding	Benign
2	169193962	T	C	T169193962C	LRP2	NM_004525.3(LRP2):c.8699-70A>G	noncoding	Benign
2	169193972	G	T	G169193972T	LRP2	NM_004525.3(LRP2):c.8699-80C>A	noncoding	Benign
2	169197070	C	T	C169197070T	LRP2	NM_004525.3(LRP2):c.8579-40G>A	noncoding	Benign
2	169197291	C	T	C169197291T	LRP2	NM_004525.3(LRP2):c.8579-261G>A	noncoding	Benign
2	169198745	T	C	T169198745C	LRP2	NM_004525.3(LRP2):c.8578+41A>G	noncoding	Benign
2	169198834	C	A	C169198834A	LRP2	NM_004525.3(LRP2):c.8530G>T:p.Gly2844Ter	coding	Pathogenic
2	169198850	G	A	G169198850A	LRP2	NM_004525.3(LRP2):c.8514C>T:p.Arg2838=	coding	Benign
2	169198859	A	G	A169198859G	LRP2	NM_004525.3(LRP2):c.8505T>C:p.Cys2835=	coding	Benign
2	169201836	A	T	A169201836T	LRP2	NM_004525.3(LRP2):c.8244T>A:p.Cys2748Ter	coding	Pathogenic
2	169201852	G	A	G169201852A	LRP2	NM_004525.3(LRP2):c.8228C>T:p.Pro2743Leu	coding	Benign/Likely_benign
2	169201987	G	A	G169201987A	LRP2	NM_004525.3(LRP2):c.8210-117C>T	noncoding	Benign
2	169202680	T	C	T169202680C	LRP2	NM_004525.3(LRP2):c.8209+76A>G	noncoding	Benign
2	169203006	C	G	C169203006G	LRP2	NM_004525.3(LRP2):c.8006-47G>C	noncoding	Benign
2	169203968	G	T	G169203968T	LRP2	NM_004525.3(LRP2):c.8005+14C>A	noncoding	Benign
2	169205304	T	G	T169205304G	LRP2	NM_004525.3(LRP2):c.7715+175A>C	noncoding	Benign
2	169205315	T	A	T169205315A	LRP2	NM_004525.3(LRP2):c.7715+164A>T	noncoding	Benign
2	169205608	T	C	T169205608C	LRP2	NM_004525.3(LRP2):c.7586A>G:p.His2529Arg	coding	Benign
2	169207047	G	A	G169207047A	LRP2	NM_004525.3(LRP2):c.6673C>T:p.Arg2225Ter	coding	Pathogenic
2	169207273	T	C	T169207273C	LRP2	NM_004525.3(LRP2):c.6470-23A>G	noncoding	Benign
2	169209639	G	A	G169209639A	LRP2	NM_004525.3(LRP2):c.6283C>T:p.Arg2095Ter	coding	Pathogenic
2	169209866	G	C	G169209866C	LRP2	NM_004525.3(LRP2):c.6281-225C>G	noncoding	Benign
2	169209885	G	A	G169209885A	LRP2	NM_004525.3(LRP2):c.6281-244C>T	noncoding	Benign
2	169212142	C	T	C169212142T	LRP2	NM_004525.3(LRP2):c.6106G>A:p.Val2036Ile	coding	Benign
2	169212518	G	A	G169212518A	LRP2	NM_004525.3(LRP2):c.6041-311C>T	noncoding	Benign
2	169213389	T	C	T169213389C	LRP2	NM_004525.3(LRP2):c.6040+268A>G	noncoding	Benign
2	169213403	G	A	G169213403A	LRP2	NM_004525.3(LRP2):c.6040+254C>T	noncoding	Benign
2	169213485	G	A	G169213485A	LRP2	NM_004525.3(LRP2):c.6040+172C>T	noncoding	Benign
2	169214029	G	C	G169214029C	LRP2	NM_004525.3(LRP2):c.5827-159C>G	noncoding	Benign
2	169214087	G	A	G169214087A	LRP2	NM_004525.3(LRP2):c.5827-217C>T	noncoding	Benign
2	169214100	G	A	G169214100A	LRP2	NM_004525.3(LRP2):c.5827-230C>T	noncoding	Benign
2	169214125	G	A	G169214125A	LRP2	NM_004525.3(LRP2):c.5827-255C>T	noncoding	Benign
2	169214146	C	T	C169214146T	LRP2	NM_004525.3(LRP2):c.5827-276G>A	noncoding	Benign
2	169216005	A	C	A169216005C	LRP2	NM_004525.3(LRP2):c.5826+248T>G	noncoding	Benign
2	169216094	C	T	C169216094T	LRP2	NM_004525.3(LRP2):c.5826+159G>A	noncoding	Benign
2	169216519	A	C	A169216519C	LRP2	NM_004525.3(LRP2):c.5649-89T>G	noncoding	Benign
2	169216554	T	A	T169216554A	LRP2	NM_004525.3(LRP2):c.5649-124A>T	noncoding	Benign
2	169216563	C	T	C169216563T	LRP2	NM_004525.3(LRP2):c.5649-133G>A	noncoding	Benign
2	169216577	T	C	T169216577C	LRP2	NM_004525.3(LRP2):c.5649-147A>G	noncoding	Benign
2	169216712	G	T	G169216712T	LRP2	NM_004525.3(LRP2):c.5649-282C>A	noncoding	Benign
2	169220139	G	A	G169220139A	LRP2	NM_004525.3(LRP2):c.5648+315C>T	noncoding	Benign
2	169220579	A	C	A169220579C	LRP2	NM_004525.3(LRP2):c.5539-16T>G	noncoding	Benign
2	169220655	C	T	C169220655T	LRP2	NM_004525.3(LRP2):c.5539-92G>A	noncoding	Benign
2	169225096	A	T	A169225096T	LRP2	NM_004525.3(LRP2):c.5538+214T>A	noncoding	Benign
2	169225503	A	G	A169225503G	LRP2	NM_004525.3(LRP2):c.5395-50T>C	noncoding	Benign
2	169225590	T	G	T169225590G	LRP2	NM_004525.3(LRP2):c.5395-137A>C	noncoding	Benign
2	169225703	C	T	C169225703T	LRP2	NM_004525.3(LRP2):c.5395-250G>A	noncoding	Benign
2	169226263	C	A	C169226263A	LRP2	NM_004525.3(LRP2):c.5394+159G>T	noncoding	Benign
2	169226266	A	T	A169226266T	LRP2	NM_004525.3(LRP2):c.5394+156T>A	noncoding	Benign
2	169231383	G	A	G169231383A	LRP2	NM_004525.3(LRP2):c.5227+331C>T	noncoding	Benign
2	169231536	G	A	G169231536A	LRP2	NM_004525.3(LRP2):c.5227+178C>T	noncoding	Benign
2	169231967	T	C	T169231967C	LRP2	NM_004525.3(LRP2):c.5099-125A>G	noncoding	Benign
2	169231996	T	C	T169231996C	LRP2	NM_004525.3(LRP2):c.5099-154A>G	noncoding	Benign
2	169232113	C	T	C169232113T	LRP2	NM_004525.3(LRP2):c.5099-271G>A	noncoding	Benign
2	169233137	G	A	G169233137A	LRP2	NM_004525.3(LRP2):c.5098+274C>T	noncoding	Benign
2	169233157	A	C	A169233157C	LRP2	NM_004525.3(LRP2):c.5098+254T>G	noncoding	Benign
2	169233314	T	C	T169233314C	LRP2	NM_004525.3(LRP2):c.5098+97A>G	noncoding	Benign
2	169233341	G	A	G169233341A	LRP2	NM_004525.3(LRP2):c.5098+70C>T	noncoding	Benign
2	169233629	C	G	C169233629G	LRP2	NM_004525.3(LRP2):c.4921-41G>C	noncoding	Benign
2	169233821	C	T	C169233821T	LRP2	NM_004525.3(LRP2):c.4921-233G>A	noncoding	Benign
2	169235534	C	T	C169235534T	LRP2	NM_004525.3(LRP2):c.4920+306G>A	noncoding	Benign
2	169235622	C	T	C169235622T	LRP2	NM_004525.3(LRP2):c.4920+218G>A	noncoding	Benign
2	169236267	G	T	G169236267T	LRP2	NM_004525.3(LRP2):c.4692-199C>A	noncoding	Benign
2	169236355	T	A	T169236355A	LRP2	NM_004525.3(LRP2):c.4692-287A>T	noncoding	Benign
2	169237222	G	C	G169237222C	LRP2	NM_004525.3(LRP2):c.4572C>G:p.Tyr1524Ter	coding	Pathogenic
2	169238442	G	A	G169238442A	LRP2	NM_004525.3(LRP2):c.4295-140C>T	noncoding	Benign
2	169240701	C	T	C169240701T	LRP2	NM_004525.3(LRP2):c.4045+287G>A	noncoding	Benign
2	169242781	C	T	C169242781T	LRP2	NM_004525.3(LRP2):c.3667+175G>A	noncoding	Benign
2	169243140	C	A	C169243140A	LRP2	NM_004525.3(LRP2):c.3551-68G>T	noncoding	Benign
2	169243761	G	C	G169243761C	LRP2	NM_004525.3(LRP2):c.3431-239C>G	noncoding	Benign
2	169243865	G	A	G169243865A	LRP2	NM_004525.3(LRP2):c.3431-343C>T	noncoding	Benign
2	169244812	T	C	T169244812C	LRP2	NM_004525.3(LRP2):c.3311A>G:p.His1104Arg	coding	Benign/Likely_benign
2	169246461	A	T	A169246461T	LRP2	NM_004525.3(LRP2):c.3190+244T>A	noncoding	Benign
2	169247005	G	A	G169247005A	LRP2	NM_004525.3(LRP2):c.2909-19C>T	noncoding	Benign
2	169247360	C	T	C169247360T	LRP2	NM_004525.3(LRP2):c.2908+18G>A	noncoding	Benign
2	169247594	C	T	C169247594T	LRP2	NM_004525.3(LRP2):c.2771-79G>A	noncoding	Benign
2	169247785	T	A	T169247785A	LRP2	NM_004525.3(LRP2):c.2771-270A>T	noncoding	Benign
2	169256194	A	G	A169256194G	LRP2	NM_004525.3(LRP2):c.2682T>C:p.Ile894=	coding	Benign
2	169256340	A	G	A169256340G	LRP2	NM_004525.3(LRP2):c.2640-104T>C	noncoding	Benign
2	169256408	C	T	C169256408T	LRP2	NM_004525.3(LRP2):c.2640-172G>A	noncoding	Benign
2	169256524	G	T	G169256524T	LRP2	NM_004525.3(LRP2):c.2640-288C>A	noncoding	Benign
2	169256886	C	T	C169256886T	LRP2	NM_004525.3(LRP2):c.2639+238G>A	noncoding	Benign
2	169259011	A	G	A169259011G	LRP2	NM_004525.3(LRP2):c.2513+14T>C	noncoding	Benign/Likely_benign
2	169271127	G	A	G169271127A	LRP2	NM_004525.3(LRP2):c.2117-20C>T	noncoding	Benign
2	169272661	G	C	G169272661C	LRP2	NM_004525.3(LRP2):c.2116+266C>G	noncoding	Benign
2	169272779	T	C	T169272779C	LRP2	NM_004525.3(LRP2):c.2116+148A>G	noncoding	Benign
2	169272906	C	T	C169272906T	LRP2	NM_004525.3(LRP2):c.2116+21G>A	noncoding	Benign
2	169273126	A	G	A169273126G	LRP2	NM_004525.3(LRP2):c.1976-59T>C	noncoding	Benign
2	169273350	G	C	G169273350C	LRP2	NM_004525.3(LRP2):c.1976-283C>G	noncoding	Benign
2	169273367	G	C	G169273367C	LRP2	NM_004525.3(LRP2):c.1976-300C>G	noncoding	Benign
2	169277681	G	C	G169277681C	LRP2	NM_004525.3(LRP2):c.1772+64C>G	noncoding	Benign
2	169278095	G	T	G169278095T	LRP2	NM_004525.3(LRP2):c.1566-144C>A	noncoding	Benign
2	169278098	T	G	T169278098G	LRP2	NM_004525.3(LRP2):c.1566-147A>C	noncoding	Benign
2	169279040	T	C	T169279040C	LRP2	NM_004525.3(LRP2):c.1565+332A>G	noncoding	Benign
2	169279170	A	G	A169279170G	LRP2	NM_004525.3(LRP2):c.1565+202T>C	noncoding	Benign
2	169279232	C	T	C169279232T	LRP2	NM_004525.3(LRP2):c.1565+140G>A	noncoding	Benign
2	169279670	A	C	A169279670C	LRP2	NM_004525.3(LRP2):c.1342-75T>G	noncoding	Benign
2	169280680	A	G	A169280680G	LRP2	NM_004525.3(LRP2):c.1172-161T>C	noncoding	Benign
2	169282670	G	A	G169282670A	LRP2	NM_004525.3(LRP2):c.1171+203C>T	noncoding	Benign
2	169282836	C	T	C169282836T	LRP2	NM_004525.3(LRP2):c.1171+37G>A	noncoding	Benign
2	169283119	A	G	A169283119G	LRP2	NM_004525.3(LRP2):c.1043-118T>C	noncoding	Benign
2	169283129	A	G	A169283129G	LRP2	NM_004525.3(LRP2):c.1043-128T>C	noncoding	Benign
2	169288763	C	T	C169288763T	LRP2	NM_004525.3(LRP2):c.1042+263G>A	noncoding	Benign
2	169288916	G	A	G169288916A	LRP2	NM_004525.3(LRP2):c.1042+110C>T	noncoding	Benign
2	169289007	G	A	G169289007A	LRP2	NM_004525.3(LRP2):c.1042+19C>T	noncoding	Benign
2	169290756	T	C	T169290756C	LRP2	NM_004525.3(LRP2):c.922+89A>G	noncoding	Benign
2	169291213	A	G	A169291213G	LRP2	NM_004525.3(LRP2):c.770-216T>C	noncoding	Benign
2	169294134	A	T	A169294134T	LRP2	NM_004525.3(LRP2):c.652+14T>A	noncoding	Benign
2	169294834	C	T	C169294834T	LRP2	NM_004525.3(LRP2):c.428-124G>A	noncoding	Benign
2	169294844	G	A	G169294844A	LRP2	NM_004525.3(LRP2):c.428-134C>T	noncoding	Benign
2	169307193	T	C	T169307193C	LRP2	NM_004525.3(LRP2):c.427+88A>G	noncoding	Benign
2	169307258	T	C	T169307258C	LRP2	NM_004525.3(LRP2):c.427+23A>G	noncoding	Benign
2	169307305	C	T	C169307305T	LRP2	NM_004525.3(LRP2):c.403G>A:p.Asp135Asn	coding	Benign/Likely_benign
2	169307460	T	G	T169307460G	LRP2	NM_004525.3(LRP2):c.311-63A>C	noncoding	Benign
2	169307562	G	A	G169307562A	LRP2	NM_004525.3(LRP2):c.311-165C>T	noncoding	Benign
2	169318531	T	G	T169318531G	LRP2	NM_004525.3(LRP2):c.310+231A>C	noncoding	Benign
2	169318599	T	C	T169318599C	LRP2	NM_004525.3(LRP2):c.310+163A>G	noncoding	Benign
2	169319020	T	C	T169319020C	LRP2	NM_004525.3(LRP2):c.188-136A>G	noncoding	Benign
2	169320936	C	T	C169320936T	LRP2	NM_004525.3(LRP2):c.80-52G>A	noncoding	Benign
2	169362022	C	T	C169362022T	LRP2	NM_004525.3(LRP2):c.79+299G>A	noncoding	Benign
2	169362133	C	T	C169362133T	LRP2	NM_004525.3(LRP2):c.79+188G>A	noncoding	Benign
2	169362150	T	G	T169362150G	LRP2	NM_004525.3(LRP2):c.79+171A>C	noncoding	Benign
2	169362154	G	C	G169362154C	LRP2	NM_004525.3(LRP2):c.79+167C>G	noncoding	Benign
2	169479554	A	G	A169479554G	BBS5	NM_152384.3(BBS5):c.1A>G:p.Met1Val	coding	Pathogenic
2	169479577	G	A	G169479577A	BBS5	NM_152384.3(BBS5):c.24G>A:p.Trp8Ter	coding	Pathogenic
2	169479776	G	A	G169479776A	BBS5	NM_152384.3(BBS5):c.59+164G>A	noncoding	Benign
2	169482476	C	A	C169482476A	BBS5	NM_152384.3(BBS5):c.142+143C>A	noncoding	Benign
2	169482493	C	A	C169482493A	BBS5	NM_152384.3(BBS5):c.142+160C>A	noncoding	Benign
2	169487420	G	T	G169487420T	BBS5	NM_152384.3(BBS5):c.208+286G>T	noncoding	Benign
2	169487550	G	A	G169487550A	BBS5	NM_152384.3(BBS5):c.209-256G>A	noncoding	Benign
2	169487605	G	T	G169487605T	BBS5	NM_152384.3(BBS5):c.209-201G>T	noncoding	Benign
2	169487805	G	A	G169487805A	BBS5	NM_152384.3(BBS5):c.209-1G>A	noncoding	Pathogenic
2	169492611	G	T	G169492611T	BBS5	NM_152384.3(BBS5):c.387-263G>T	noncoding	Benign
2	169492795	A	G	A169492795G	BBS5	NM_152384.3(BBS5):c.387-79A>G	noncoding	Benign
2	169493007	C	T	C169493007T	BBS5	NM_152384.3(BBS5):c.520C>T:p.Gln174Ter	coding	Pathogenic
2	169493557	G	A	G169493557A	BBS5	NM_152384.3(BBS5):c.523-184G>A	noncoding	Benign
2	169493975	T	C	T169493975C	BBS5	NM_152384.3(BBS5):c.618+139T>C	noncoding	Benign
2	169499402	C	A	C169499402A	BBS5	NM_152384.3(BBS5):c.682-84C>A	noncoding	Benign
2	169499434	A	T	A169499434T	BBS5	NM_152384.3(BBS5):c.682-52A>T	noncoding	Benign
2	169503248	G	C	G169503248C	BBS5	NM_152384.3(BBS5):c.900+70G>C	noncoding	Benign
2	169503433	G	A	G169503433A	BBS5	NM_152384.3(BBS5):c.900+255G>A	noncoding	Benign
2	169504067	C	A	C169504067A	BBS5	NM_152384.3(BBS5):c.901-236C>A	noncoding	Benign
2	169504255	G	C	G169504255C	BBS5	NM_152384.3(BBS5):c.901-48G>C	noncoding	Benign/Likely_benign
2	169504481	C	T	C169504481T	BBS5	NM_152384.3(BBS5):c.925C>T:p.Gln309Ter	coding	Pathogenic
2	169510176	G	A	G169510176A	KLHL41	NM_006063.3(KLHL41):c.398G>A:p.Gly133Asp	coding	Benign/Likely_benign
2	169510805	C	T	C169510805T	KLHL41	NM_006063.3(KLHL41):c.1027C>T:p.Gln343Ter	coding	Pathogenic
2	169514466	T	C	T169514466C	KLHL41	NM_006063.3(KLHL41):c.1111-108T>C	noncoding	Benign
2	169514989	T	A	T169514989A	KLHL41	NM_006063.3(KLHL41):c.1376+28T>A	noncoding	Benign
2	169518097	C	T	C169518097T	KLHL41	NM_006063.3(KLHL41):c.1377-93C>T	noncoding	Benign
2	169520864	G	A	G169520864A	KLHL41	NM_006063.3(KLHL41):c.1566G>A:p.Trp522Ter	coding	Pathogenic
2	169520876	C	T	C169520876T	KLHL41	NM_006063.3(KLHL41):c.1578C>T:p.Thr526=	coding	Benign
2	169520988	G	T	G169520988T	KLHL41	NM_006063.3(KLHL41):c.1690G>T:p.Glu564Ter	coding	Pathogenic
2	169521227	A	G	A169521227G	KLHL41	NM_006063.3(KLHL41):c.1709+220A>G	noncoding	Benign
2	169525848	C	G	C169525848G	KLHL41	NM_006063.3(KLHL41):c.*152C>G	noncoding	Benign
2	169526021	T	C	T169526021C	KLHL41	NM_006063.3(KLHL41):c.*325T>C	noncoding	Benign
2	169631944	A	G	A169631944G	PPIG	NM_004792.3(PPIG):c.929+11A>G	noncoding	Benign
2	169812455	A	C	A169812455C	METTL5	NM_014168.4(METTL5):c.591+2T>G	noncoding	Pathogenic
2	170217377	G	A	G170217377A	MYO3B	NM_138995.5(MYO3B):c.585G>A:p.Pro195=	coding	Benign
2	170818186	T	C	T170818186C	GAD1	NM_000817.3(GAD1):c.-63-343T>C	noncoding	Benign
2	170818871	A	G	A170818871G	GAD1	NM_000817.3(GAD1):c.82+198A>G	noncoding	Benign
2	170821869	C	T	C170821869T	GAD1	NM_000817.3(GAD1):c.83-218C>T	noncoding	Benign
2	170822091	C	G	C170822091G	GAD1	NM_000817.3(GAD1):c.87C>G:p.Tyr29Ter	coding	Pathogenic
2	170829818	T	G	T170829818G	GAD1	NM_000817.3(GAD1):c.304+185T>G	noncoding	Benign
2	170836945	A	C	A170836945C	GAD1	NM_000817.3(GAD1):c.638+62A>C	noncoding	Benign
2	170837129	C	G	C170837129G	GAD1	NM_000817.3(GAD1):c.638+246C>G	noncoding	Benign
2	170842889	T	A	T170842889A	GAD1	NM_000817.3(GAD1):c.639-1156T>A	noncoding	Benign
2	170843849	C	T	C170843849T	GAD1	NM_000817.3(GAD1):c.639-196C>T	noncoding	Benign
2	170844219	G	A	G170844219A	GAD1	NM_000817.3(GAD1):c.751+62G>A	noncoding	Benign
2	170845254	C	G	C170845254G	GAD1	NM_000817.3(GAD1):c.752-252C>G	noncoding	Benign
2	170845619	C	T	C170845619T	GAD1	NM_000817.3(GAD1):c.865C>T:p.Gln289Ter	coding	Pathogenic
2	170845970	C	T	C170845970T	GAD1	NM_000817.3(GAD1):c.948-39C>T	noncoding	Benign
2	170847793	G	A	G170847793A	GAD1	NM_000817.3(GAD1):c.1119+1G>A	coding	Pathogenic
2	170848009	C	T	C170848009T	GAD1	NM_000817.3(GAD1):c.1119+217C>T	noncoding	Benign
2	170852474	T	C	T170852474C	GAD1	NM_000817.3(GAD1):c.1185-240T>C	noncoding	Benign
2	170852920	A	G	A170852920G	GAD1	NM_000817.3(GAD1):c.1263+128A>G	noncoding	Benign
2	170853011	G	A	G170853011A	GAD1	NM_000817.3(GAD1):c.1263+219G>A	noncoding	Benign
2	170857017	G	C	G170857017C	GAD1	NM_000817.3(GAD1):c.1414-1G>C	noncoding	Pathogenic
2	170858623	C	G	C170858623G	GAD1	NM_000817.3(GAD1):c.1522-181C>G	noncoding	Benign
2	170858873	C	T	C170858873T	GAD1	NM_000817.3(GAD1):c.1591C>T:p.Arg531Ter	coding	Pathogenic
2	170859610	A	G	A170859610G	GAD1	NM_000817.3(GAD1):c.1612-99A>G	noncoding	Benign
2	170859788	A	G	A170859788G	GAD1	NM_000817.3(GAD1):c.1691A>G:p.Asn564Ser	coding	Pathogenic
2	171433946	C	G	C171433946G	DCAF17	NM_001321154.2(METTL8):c.-76G>C	noncoding	Benign
2	171433987	G	A	G171433987A	DCAF17	NM_001321154.2(METTL8):c.-117C>T	noncoding	Benign
2	171434637	C	A	C171434637A	DCAF17	NM_025000.4(DCAF17):c.60C>A:p.Cys20Ter	coding	Pathogenic
2	171448582	T	C	T171448582C	DCAF17	NM_025000.4(DCAF17):c.322-99T>C	noncoding	Benign
2	171449638	G	A	G171449638A	DCAF17	NM_025000.4(DCAF17):c.459-241G>A	noncoding	Benign
2	171449689	A	G	A171449689G	DCAF17	NM_025000.4(DCAF17):c.459-190A>G	noncoding	Benign
2	171449973	C	T	C171449973T	DCAF17	NM_025000.4(DCAF17):c.537+16C>T	noncoding	Benign/Likely_benign
2	171452996	T	A	T171452996A	DCAF17	NM_025000.4(DCAF17):c.538-128T>A	noncoding	Benign
2	171457744	G	A	G171457744A	DCAF17	NM_025000.4(DCAF17):c.628-227G>A	noncoding	Benign
2	171457934	T	G	T171457934G	DCAF17	NM_025000.4(DCAF17):c.628-37T>G	noncoding	Benign
2	171458701	C	T	C171458701T	DCAF17	NM_025000.4(DCAF17):c.838+224C>T	noncoding	Benign
2	171468630	A	G	A171468630G	DCAF17	NM_025000.4(DCAF17):c.839-258A>G	noncoding	Benign
2	171468652	C	T	C171468652T	DCAF17	NM_025000.4(DCAF17):c.839-236C>T	noncoding	Benign
2	171473567	C	A	C171473567A	DCAF17	NM_025000.4(DCAF17):c.982-299C>A	noncoding	Benign
2	171473977	T	C	T171473977C	DCAF17	NM_025000.4(DCAF17):c.1091+2T>C	noncoding	Pathogenic
2	171476785	C	T	C171476785T	DCAF17	NM_025000.4(DCAF17):c.1092-75C>T	noncoding	Benign
2	171477142	C	A	C171477142A	DCAF17	NM_025000.4(DCAF17):c.1182+192C>A	noncoding	Benign
2	171478084	C	T	C171478084T	DCAF17	NM_025000.4(DCAF17):c.1266+14C>T	noncoding	Benign
2	171478121	T	A	T171478121A	DCAF17	NM_025000.4(DCAF17):c.1266+51T>A	noncoding	Benign
2	171479769	G	A	G171479769A	DCAF17	NM_025000.4(DCAF17):c.1267-269G>A	noncoding	Benign
2	171480473	G	A	G171480473A	DCAF17	NM_025000.4(DCAF17):c.1422+280G>A	noncoding	Benign
2	171480499	A	G	A171480499G	DCAF17	NM_025000.4(DCAF17):c.1422+306A>G	noncoding	Benign
2	171554763	G	A	G171554763A	CYBRD1	NM_024843.4(CYBRD1):c.797G>A:p.Ser266Asn	coding	Benign
2	171791568	G	A	G171791568A	SLC25A12	NM_003705.5(SLC25A12):c.1468C>T:p.Arg490Ter	coding	Pathogenic
2	171793608	A	G	A171793608G	SLC25A12	NM_003705.5(SLC25A12):c.1446+19T>C	noncoding	Benign
2	171809616	G	A	G171809616A	SLC25A12	NM_003705.5(SLC25A12):c.1295C>T:p.Ala432Val	coding	Pathogenic
2	171834707	T	C	T171834707C	SLC25A12	NM_003705.5(SLC25A12):c.751+20A>G	noncoding	Benign
2	171844381	C	T	C171844381T	SLC25A12	NM_003705.5(SLC25A12):c.453G>A:p.Thr151=	coding	Benign
2	171855823	T	A	T171855823A	SLC25A12	NM_003705.5(SLC25A12):c.325+11A>T	noncoding	Benign
2	171855970	T	C	T171855970C	SLC25A12	NM_003705.5(SLC25A12):c.210-21A>G	noncoding	Benign
2	171893255	G	A	G171893255A	SLC25A12	NM_003705.5(SLC25A12):c.16C>T:p.Gln6Ter	coding	Pathogenic
2	172427928	C	T	C172427928T	ITGA6	NM_000210.4(ITGA6):c.140C>T:p.Ser47Leu	coding	Pathogenic
2	172428000	T	C	T172428000C	ITGA6	NM_000210.4(ITGA6):c.182+30T>C	noncoding	Benign
2	172428061	G	T	G172428061T	ITGA6	NM_000210.4(ITGA6):c.182+91G>T	noncoding	Benign
2	172428157	C	T	C172428157T	ITGA6	NM_000210.4(ITGA6):c.182+187C>T	noncoding	Benign
2	172446825	A	G	A172446825G	ITGA6	NM_000210.4(ITGA6):c.183-18714A>G	noncoding	Benign
2	172465237	T	A	T172465237A	ITGA6	NM_000210.4(ITGA6):c.183-302T>A	noncoding	Benign
2	172465821	T	G	T172465821G	ITGA6	NM_000210.4(ITGA6):c.307+158T>G	noncoding	Benign
2	172465979	G	C	G172465979C	ITGA6	NM_000210.4(ITGA6):c.307+316G>C	noncoding	Benign
2	172467208	C	T	C172467208T	ITGA6	NM_000210.4(ITGA6):c.308-273C>T	noncoding	Benign
2	172467246	A	T	A172467246T	ITGA6	NM_000210.4(ITGA6):c.308-235A>T	noncoding	Benign
2	172467287	G	T	G172467287T	ITGA6	NM_000210.4(ITGA6):c.308-194G>T	noncoding	Benign
2	172467387	G	A	G172467387A	ITGA6	NM_000210.4(ITGA6):c.308-94G>A	noncoding	Benign
2	172467560	G	T	G172467560T	ITGA6	NM_000210.4(ITGA6):c.387G>T:p.Val129=	coding	Pathogenic
2	172467795	T	C	T172467795C	ITGA6	NM_000210.4(ITGA6):c.387+235T>C	noncoding	Benign
2	172468992	G	A	G172468992A	ITGA6	NM_000210.4(ITGA6):c.388-133G>A	noncoding	Benign
2	172469120	T	G	T172469120G	ITGA6	NM_000210.4(ITGA6):c.388-5T>G	noncoding	Pathogenic
2	172470840	C	T	C172470840T	ITGA6	NM_000210.4(ITGA6):c.644-134C>T	noncoding	Benign
2	172473758	T	C	T172473758C	ITGA6	NM_000210.4(ITGA6):c.776-297T>C	noncoding	Benign
2	172473925	T	C	T172473925C	ITGA6	NM_000210.4(ITGA6):c.776-130T>C	noncoding	Benign
2	172474341	C	T	C172474341T	ITGA6	NM_000210.4(ITGA6):c.986+76C>T	noncoding	Benign
2	172474488	A	T	A172474488T	ITGA6	NM_000210.4(ITGA6):c.986+223A>T	noncoding	Benign
2	172475846	T	C	T172475846C	ITGA6	NM_000210.4(ITGA6):c.1269+161T>C	noncoding	Benign
2	172476411	C	A	C172476411A	ITGA6	NM_000210.4(ITGA6):c.1286C>A:p.Ser429Ter	coding	Pathogenic
2	172479400	G	A	G172479400A	ITGA6	NM_000210.4(ITGA6):c.1389-241G>A	noncoding	Benign
2	172479533	G	A	G172479533A	ITGA6	NM_000210.4(ITGA6):c.1389-108G>A	noncoding	Benign
2	172479952	A	C	A172479952C	ITGA6	NM_000210.4(ITGA6):c.1488-38A>C	noncoding	Benign
2	172480149	G	A	G172480149A	ITGA6	NM_000210.4(ITGA6):c.1549+98G>A	noncoding	Benign
2	172484940	C	T	C172484940T	ITGA6	NM_000210.4(ITGA6):c.1708C>T:p.Gln570Ter	coding	Pathogenic
2	172487234	T	G	T172487234G	ITGA6	NM_000210.4(ITGA6):c.1971-30T>G	noncoding	Benign
2	172487529	C	T	C172487529T	ITGA6	NM_000210.4(ITGA6):c.2161-18C>T	noncoding	Benign
2	172487530	G	A	G172487530A	ITGA6	NM_000210.4(ITGA6):c.2161-17G>A	noncoding	Benign
2	172487531	T	C	T172487531C	ITGA6	NM_000210.4(ITGA6):c.2161-16T>C	noncoding	Benign
2	172487646	A	C	A172487646C	ITGA6	NM_000210.4(ITGA6):c.2244+16A>C	noncoding	Benign
2	172488096	C	T	C172488096T	ITGA6	NM_000210.4(ITGA6):c.2403-30C>T	noncoding	Benign
2	172488332	G	A	G172488332A	ITGA6	NM_000210.4(ITGA6):c.2505+104G>A	noncoding	Benign
2	172489484	G	C	G172489484C	ITGA6	NM_000210.4(ITGA6):c.2506-1G>C	noncoding	Pathogenic
2	172491179	A	C	A172491179C	ITGA6	NM_000210.4(ITGA6):c.2779-42A>C	noncoding	Benign
2	172491372	C	G	C172491372G	ITGA6	NM_000210.4(ITGA6):c.2889+41C>G	noncoding	Benign
2	172498242	G	C	G172498242C	ITGA6	NM_000210.4(ITGA6):c.3114+142G>C	noncoding	Benign
2	172498277	C	T	C172498277T	ITGA6	NM_000210.4(ITGA6):c.3114+177C>T	noncoding	Benign
2	172502141	C	T	C172502141T	ITGA6	NM_000210.4(ITGA6):c.*22+240C>T	noncoding	Benign
2	173091097	C	T	C173091097T	MAP3K20	NM_016653.3(MAP3K20):c.66C>T:p.Cys22=	coding	Benign
2	173190918	T	C	T173190918C	MAP3K20	NM_016653.3(MAP3K20):c.439T>C:p.Leu147=	coding	Benign
2	173191003	A	G	A173191003G	MAP3K20	NM_016653.3(MAP3K20):c.445-37A>G	noncoding	Benign
2	173191138	C	T	C173191138T	MAP3K20	NM_016653.3(MAP3K20):c.543C>T:p.Leu181=	coding	Benign
2	173197867	A	G	A173197867G	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.583-159A>G	coding	Benign
2	173198008	A	G	A173198008G	MAP3K20	NM_016653.3(MAP3K20):c.583-18A>G	coding	Benign
2	173203785	G	C	G173203785C	MAP3K20	NM_016653.3(MAP3K20):c.670-11G>C	noncoding	Benign
2	173203879	A	G	A173203879G	MAP3K20	NM_016653.3(MAP3K20):c.744+9A>G	noncoding	Benign
2	173209625	T	G	T173209625G	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.745-104T>G	noncoding	Benign
2	173209647	T	C	T173209647C	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.745-82T>C	coding	Benign
2	173209679	A	G	A173209679G	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.745-50A>G	coding	Benign
2	173217372	C	G	C173217372G	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.987+122C>G	noncoding	Benign
2	173221013	A	G	A173221013G	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.987+3763A>G	noncoding	Benign
2	173221019	C	T	C173221019T	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.987+3769C>T	noncoding	Benign
2	173221557	C	T	C173221557T	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.987+4307C>T	coding	Benign
2	173229617	A	T	A173229617T	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.988-72A>T	noncoding	Benign
2	173229772	G	A	G173229772A	MAP3K20	NM_016653.3(MAP3K20):c.1032+39G>A	noncoding	Benign
2	173229846	G	T	G173229846T	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.1032+113G>T	noncoding	Benign
2	173232378	A	G	A173232378G	MAP3K20	NM_016653.3(MAP3K20):c.1122A>G:p.Thr374=	coding	Benign
2	173238432	T	C	T173238432C	MAP3K20	NM_016653.3(MAP3K20):c.1263T>C:p.Ile421=	coding	Benign
2	173238638	T	C	T173238638C	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.1266+203T>C	noncoding	Benign
2	173239494	C	T	C173239494T	MAP3K20	NM_016653.3(MAP3K20):c.1357C>T:p.Gln453Ter	coding	Pathogenic
2	173239630	T	C	T173239630C	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.1359+134T>C	noncoding	Benign
2	173258545	A	C	A173258545C	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.1360-154A>C	noncoding	Benign
2	173258671	A	G	A173258671G	MAP3K20	NM_016653.3(MAP3K20):c.1360-28A>G	noncoding	Benign
2	173261232	T	C	T173261232C	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.1551+95T>C	noncoding	Benign
2	173263542	A	T	A173263542T	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.1552-203A>T	noncoding	Benign
2	173263735	G	A	G173263735A	MAP3K20	NM_016653.3(MAP3K20):c.1552-10G>A	noncoding	Benign
2	173263785	C	A	C173263785A	MAP3K20	NM_016653.3(MAP3K20):c.1592C>A:p.Ser531Ter	coding	Pathogenic
2	173263785	C	T	C173263785T	MAP3K20	NM_016653.3(MAP3K20):c.1592C>T:p.Ser531Leu	coding	Benign
2	173263867	T	C	T173263867C	MAP3K20	NM_016653.3(MAP3K20):c.1674T>C:p.Asp558=	coding	Benign
2	173266085	C	T	C173266085T	MAP3K20	NM_016653.3(MAP3K20):c.1738C>T:p.Arg580Trp	coding	Benign
2	173266333	C	T	C173266333T	MAP3K20	NM_016653.3(MAP3K20):c.1986C>T:p.Gly662=	coding	Benign
2	173266494	G	A	G173266494A	MAP3K20	NM_016653.3(MAP3K20):c.2147G>A:p.Arg716Lys	coding	Benign
2	173266640	G	A	G173266640A	MAP3K20	NM_016653.3(MAP3K20):c.2293G>A:p.Glu765Lys	coding	Benign
2	173266664	T	C	T173266664C	MAP3K20	NM_016653.3(MAP3K20):c.2317T>C:p.Tyr773His	coding	Benign
2	173266797	A	G	A173266797G	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.*47A>G	noncoding	Benign
2	173358695	G	T	G173358695T	CDCA7	NM_031942.5(CDCA7):c.22-17G>T	noncoding	Benign
2	173359419	C	T	C173359419T	CDCA7	NM_031942.5(CDCA7):c.312C>T:p.Ala104=	coding	Benign
2	173363481	G	A	G173363481A	CDCA7	NM_031942.5(CDCA7):c.621+19G>A	noncoding	Benign
2	173363690	C	T	C173363690T	CDCA7	NM_031942.5(CDCA7):c.622-128C>T	noncoding	Benign
2	173364779	T	C	T173364779C	CDCA7	NM_031942.5(CDCA7):c.700-16T>C	noncoding	Benign
2	173364971	C	A	C173364971A	CDCA7	NM_031942.5(CDCA7):c.876C>A:p.Thr292=	coding	Benign
2	173365003	A	G	A173365003G	CDCA7	NM_031942.5(CDCA7):c.894+14A>G	noncoding	Benign
2	173365425	C	G	C173365425G	CDCA7	NM_031942.5(CDCA7):c.895-27C>G	noncoding	Benign
2	173365447	T	C	T173365447C	CDCA7	NM_031942.5(CDCA7):c.895-5T>C	noncoding	Benign
2	173956022	T	C	T173956022C	SP3	NM_003111.5(SP3):c.490A>G:p.Thr164Ala	coding	Benign
2	174566979	C	G	C174566979G	WIPF1	NM_001375834.1(WIPF1):c.1456+91G>C	noncoding	Benign
2	174567328	G	A	G174567328A	WIPF1	NM_001375834.1(WIPF1):c.1343-145C>T	noncoding	Benign
2	174567370	G	A	G174567370A	WIPF1	NM_001375834.1(WIPF1):c.1343-187C>T	noncoding	Benign
2	174567841	G	A	G174567841A	WIPF1	NM_001375834.1(WIPF1):c.1342+20C>T	noncoding	Benign
2	174571848	A	C	A174571848C	WIPF1	NM_001375834.1(WIPF1):c.957T>G:p.Pro319=	coding	Benign
2	174575588	G	A	G174575588A	WIPF1	NM_001375834.1(WIPF1):c.182-208C>T	noncoding	Benign
2	174748437	G	C	G174748437C	CHRNA1	NM_000079.4(CHRNA1):c.1242+143C>G	noncoding	Benign
2	174749673	G	A	G174749673A	CHRNA1	NM_000079.4(CHRNA1):c.1002+273C>T	noncoding	Benign
2	174749888	G	A	G174749888A	CHRNA1	NM_000079.4(CHRNA1):c.1002+58C>T	noncoding	Benign
2	174757249	C	T	C174757249T	CHRNA1	NM_000079.4(CHRNA1):c.344+317G>A	noncoding	Benign
2	174757284	C	T	C174757284T	CHRNA1	NM_000079.4(CHRNA1):c.344+282G>A	noncoding	Benign
2	174757330	T	A	T174757330A	CHRNA1	NM_000079.4(CHRNA1):c.344+236A>T	noncoding	Benign
2	174757593	C	T	C174757593T	CHRNA1	NM_000079.4(CHRNA1):c.317G>A:p.Trp106Ter	coding	Pathogenic/Likely_pathogenic
2	174757661	G	T	G174757661T	CHRNA1	NM_000079.4(CHRNA1):c.249C>A:p.Tyr83Ter	coding	Pathogenic
2	174758028	C	T	C174758028T	CHRNA1	NM_000079.4(CHRNA1):c.235-353G>A	noncoding	Pathogenic
2	174758097	C	A	C174758097A	CHRNA1	NM_000079.4(CHRNA1):c.235-422G>T	noncoding	Benign
2	174759476	C	T	C174759476T	CHRNA1	NM_000079.4(CHRNA1):c.189+12G>A	noncoding	Benign/Likely_benign
2	174759868	C	T	C174759868T	CHRNA1	NM_000079.4(CHRNA1):c.44-235G>A	noncoding	Benign
2	174764136	A	G	A174764136G	CHRNA1	NM_000079.4(CHRNA1):c.43+216T>C	noncoding	Benign
2	174764157	G	C	G174764157C	CHRNA1	NM_000079.4(CHRNA1):c.43+195C>G	noncoding	Benign
2	174764675	G	A	G174764675A	CHRNA1	Single_allele	noncoding	Benign
2	174764872	T	C	T174764872C	CHRNA1	NM_001039523.2(CHRNA1):c.-478A>G	noncoding	Benign/Likely_benign
2	174801809	A	C	A174801809C	CHN1	NM_001822.7(CHN1):c.1106T>G:p.Ile369Ser	coding	Pathogenic
2	175937343	C	G	C175937343G	LNPK	NM_030650.3(LNPK):c.1054+1G>C	noncoding	Pathogenic
2	176088561	C	T	C176088561T	HOXD13	Single_allele	noncoding	Benign
2	176092473	G	C	G176092473C	HOXD13	Single_allele	noncoding	Benign
2	176092502	T	A	T176092502A	HOXD13	Single_allele	noncoding	Benign
2	176092852	G	C	G176092852C	HOXD13	NM_000523.4(HOXD13):c.-39G>C	noncoding	Benign
2	176093973	A	C	A176093973C	HOXD13	NM_000523.4(HOXD13):c.781+302A>C	noncoding	Benign
2	176094234	C	T	C176094234T	HOXD13	NM_000523.4(HOXD13):c.782-246C>T	noncoding	Benign
2	176094280	A	G	A176094280G	HOXD13	NM_000523.4(HOXD13):c.782-200A>G	noncoding	Benign
2	176094351	G	A	G176094351A	HOXD13	NM_000523.4(HOXD13):c.782-129G>A	noncoding	Benign
2	176095041	C	T	C176095041T	HOXD13	NM_000523.4(HOXD13):c.*311C>T	noncoding	Benign
2	177231309	C	T	C177231309T	NFE2L2	NM_006164.5(NFE2L2):c.1294G>A:p.Val432Ile	coding	Benign
2	177231313	C	G	C177231313G	NFE2L2	NM_006164.5(NFE2L2):c.1290G>C:p.Leu430Phe	coding	Benign
2	177231340	T	A	T177231340A	NFE2L2	NM_006164.5(NFE2L2):c.1263A>T:p.Gln421His	coding	Benign
2	177231414	C	T	C177231414T	NFE2L2	NM_006164.5(NFE2L2):c.1189G>A:p.Val397Ile	coding	Benign
2	177231433	C	G	C177231433G	NFE2L2	NM_006164.5(NFE2L2):c.1170G>C:p.Gln390His	coding	Benign
2	177231571	G	A	G177231571A	NFE2L2	NM_006164.5(NFE2L2):c.1032C>T:p.Ser344=	coding	Benign
2	177231801	C	T	C177231801T	NFE2L2	NM_006164.5(NFE2L2):c.802G>A:p.Val268Met	coding	Benign
2	177232027	T	C	T177232027C	NFE2L2	NM_006164.5(NFE2L2):c.595-19A>G	noncoding	Benign
2	177232438	T	G	T177232438G	NFE2L2	NM_006164.5(NFE2L2):c.548A>C:p.Asp183Ala	coding	Benign
2	177232570	G	A	G177232570A	NFE2L2	NM_006164.5(NFE2L2):c.416C>T:p.Thr139Met	coding	Benign
2	177233237	T	C	T177233237C	NFE2L2	NM_006164.5(NFE2L2):c.402+13A>G	noncoding	Benign
2	177233280	C	T	C177233280T	NFE2L2	NM_006164.5(NFE2L2):c.372G>A:p.Ala124=	coding	Benign
2	177233358	A	G	A177233358G	NFE2L2	NM_006164.5(NFE2L2):c.313-19T>C	noncoding	Benign
2	177233994	G	A	G177233994A	NFE2L2	NM_006164.5(NFE2L2):c.312+11C>T	noncoding	Benign
2	177234146	T	C	T177234146C	NFE2L2	NM_006164.5(NFE2L2):c.171A>G:p.Glu57=	coding	Benign
2	177234275	T	C	T177234275C	NFE2L2	NM_006164.5(NFE2L2):c.46-4A>G	noncoding	Benign
2	177392624	G	C	G177392624C	AGPS	NR_026966.1(LOC100130691):n.68C>G	noncoding	Benign
2	177393111	A	C	A177393111C	AGPS	NM_003659.4(AGPS):c.260+62A>C	noncoding	Benign
2	177393373	T	C	T177393373C	AGPS	NM_003659.4(AGPS):c.260+324T>C	noncoding	Benign
2	177420453	G	A	G177420453A	AGPS	NM_003659.4(AGPS):c.350+95G>A	noncoding	Benign
2	177436700	C	T	C177436700T	AGPS	NM_003659.4(AGPS):c.442-64C>T	noncoding	Benign
2	177442602	C	T	C177442602T	AGPS	NM_003659.4(AGPS):c.789+116C>T	noncoding	Benign
2	177461742	A	G	A177461742G	AGPS	NM_003659.4(AGPS):c.871-151A>G	noncoding	Benign
2	177482200	T	A	T177482200A	AGPS	NM_003659.4(AGPS):c.1233+14T>A	noncoding	Benign/Likely_benign
2	177493109	A	G	A177493109G	AGPS	NM_003659.4(AGPS):c.1234-39A>G	noncoding	Benign
2	177493159	G	A	G177493159A	AGPS	NM_003659.4(AGPS):c.1245G>A:p.Pro415=	coding	Benign
2	177497844	G	A	G177497844A	AGPS	NM_003659.4(AGPS):c.1362+79G>A	noncoding	Benign
2	177499273	C	G	C177499273G	AGPS	NM_003659.4(AGPS):c.1363-345C>G	noncoding	Benign
2	177499600	A	T	A177499600T	AGPS	NM_003659.4(AGPS):c.1363-18A>T	noncoding	Benign
2	177499763	G	C	G177499763C	AGPS	NM_003659.4(AGPS):c.1475+33G>C	noncoding	Benign
2	177505652	T	A	T177505652A	AGPS	NM_003659.4(AGPS):c.1545+77T>A	noncoding	Benign
2	177505700	C	T	C177505700T	AGPS	NM_003659.4(AGPS):c.1545+125C>T	noncoding	Benign
2	177513724	T	A	T177513724A	AGPS	NM_003659.4(AGPS):c.1608-95T>A	noncoding	Benign
2	177663913	G	C	G177663913C	PDE11A	NM_016953.4(PDE11A):c.2599C>G:p.Arg867Gly	coding	Benign
2	177663975	C	T	C177663975T	PDE11A	NM_016953.4(PDE11A):c.2563-26G>A	noncoding	Benign
2	177669596	A	G	A177669596G	PDE11A	NM_016953.4(PDE11A):c.2488-29T>C	noncoding	Benign
2	177675565	A	G	A177675565G	PDE11A	NM_016953.4(PDE11A):c.2424-47T>C	noncoding	Benign
2	177728150	G	C	G177728150C	PDE11A	NM_016953.4(PDE11A):c.1811C>G:p.Ser604Ter	coding	Pathogenic/Likely_pathogenic
2	177816807	C	T	C177816807T	PDE11A	NM_016953.4(PDE11A):c.1737+22G>A	noncoding	Benign
2	177817876	T	C	T177817876C	PDE11A	NM_016953.4(PDE11A):c.1626A>G:p.Ala542=	coding	Benign
2	177817928	A	G	A177817928G	PDE11A	NM_016953.4(PDE11A):c.1577-3T>C	noncoding	Benign
2	177820194	G	A	G177820194A	PDE11A	NM_016953.4(PDE11A):c.1576+26C>T	noncoding	Benign
2	178071646	T	G	T178071646G	PDE11A	NM_016953.4(PDE11A):c.792A>C:p.Thr264=	coding	Benign
2	178071887	C	T	C178071887T	PDE11A	NM_016953.4(PDE11A):c.551G>A:p.Arg184Gln	coding	Benign
2	178436291	C	A	C178436291A	PRKRA	NM_003690.5(PRKRA):c.638G>T:p.Cys213Phe	coding	Pathogenic
2	178441590	T	C	T178441590C	PRKRA	NM_003690.5(PRKRA):c.609+20A>G	noncoding	Benign/Likely_benign
2	178443571	A	G	A178443571G	PRKRA	NM_003690.5(PRKRA):c.397-187T>C	noncoding	Benign
2	178447886	T	C	T178447886C	PRKRA	NM_003690.5(PRKRA):c.236-300A>G	noncoding	Benign
2	178450950	C	T	C178450950T	PRKRA	NM_003690.5(PRKRA):c.65+16G>A	noncoding	Benign
2	178450956	G	A	G178450956A	PRKRA	NM_003690.5(PRKRA):c.65+10C>T	noncoding	Benign/Likely_benign
2	178451207	C	T	C178451207T	PRKRA	NM_003690.4(PRKRA):c.-177G>A	noncoding	Benign/Likely_benign
2	178451211	G	A	G178451211A	PRKRA	NM_003690.4(PRKRA):c.-181C>T	noncoding	Benign/Likely_benign
2	178451344	C	T	C178451344T	PRKRA	Single_allele	noncoding	Benign
2	178454664	G	A	G178454664A	PJVK	NM_001042702.5(PJVK):c.407+137G>A	noncoding	Benign
2	178455775	C	T	C178455775T	PJVK	NM_001042702.5(PJVK):c.408-235C>T	noncoding	Benign
2	178458390	C	T	C178458390T	PJVK	NM_001042702.5(PJVK):c.550-120C>T	noncoding	Benign
2	178458508	A	T	A178458508T	PJVK	NM_001042702.5(PJVK):c.550-2A>T	noncoding	Pathogenic
2	178460268	G	T	G178460268T	PJVK	NM_001042702.5(PJVK):c.668-80G>T	noncoding	Benign
2	178460351	T	G	T178460351G	PJVK	NM_001042702.5(PJVK):c.671T>G:p.Leu224Arg	coding	Pathogenic
2	178460477	T	C	T178460477C	PJVK	NM_001042702.5(PJVK):c.766+31T>C	noncoding	Benign
2	178461095	C	G	C178461095G	PJVK	NM_001042702.5(PJVK):c.880C>G:p.His294Asp	coding	Pathogenic
2	178525940	A	G	A178525940G	TTN	Single_allele	noncoding	Benign
2	178528428	C	G	C178528428G	TTN	NM_001267550.2(TTN):c.107224-1G>C	coding	Pathogenic
2	178530455	G	C	G178530455C	TTN	NM_001267550.2(TTN):c.106160C>G:p.Ser35387Ter	coding	Pathogenic
2	178533483	G	A	G178533483A	TTN	NM_001267550.2(TTN):c.103132C>T:p.Gln34378Ter	coding	Pathogenic/Likely_pathogenic
2	178534105	C	T	C178534105T	TTN	NM_001267550.2(TTN):c.102510G>A:p.Trp34170Ter	coding	Pathogenic/Likely_pathogenic
2	178535752	G	T	G178535752T	TTN	NM_001267550.2(TTN):c.100863C>A:p.Gly33621=	coding	Benign
2	178535860	A	G	A178535860G	TTN	NM_001267550.2(TTN):c.100766-11T>C	noncoding	Benign
2	178537329	A	T	A178537329T	TTN	NM_001267550.2(TTN):c.99865+13T>A	noncoding	Benign
2	178538840	C	A	C178538840A	TTN	NM_001267550.2(TTN):c.98990-1G>T	coding	Pathogenic/Likely_pathogenic
2	178538866	G	A	G178538866A	TTN	NM_001267550.2(TTN):c.98990-27C>T	coding	Benign
2	178539746	A	C	A178539746C	TTN	NM_001267550.2(TTN):c.98319T>G:p.Tyr32773Ter	coding	Pathogenic
2	178541158	T	C	T178541158C	TTN	NM_001267550.2(TTN):c.97795+124A>G	noncoding	Benign
2	178542856	C	T	C178542856T	TTN	NM_001267550.2(TTN):c.96998G>A:p.Arg32333His	coding	Benign/Likely_benign
2	178545895	G	A	G178545895A	TTN	NM_001267550.2(TTN):c.95341C>T:p.Arg31781Ter	coding	Pathogenic/Likely_pathogenic
2	178546476	G	A	G178546476A	TTN	NM_001267550.2(TTN):c.94855C>T:p.Arg31619Ter	coding	Pathogenic/Likely_pathogenic
2	178546674	A	C	A178546674C	TTN	NM_001267550.2(TTN):c.94754T>G:p.Leu31585Ter	coding	Pathogenic
2	178547016	A	G	A178547016G	TTN	NM_001267550.2(TTN):c.94509T>C:p.Ala31503=	coding	Benign
2	178548749	C	T	C178548749T	TTN	NM_001267550.2(TTN):c.92877G>A:p.Trp30959Ter	coding	Pathogenic
2	178548967	G	A	G178548967A	TTN	NM_001267550.2(TTN):c.92659C>T:p.Gln30887Ter	coding	Pathogenic/Likely_pathogenic
2	178549670	T	C	T178549670C	TTN	NM_001267550.2(TTN):c.92052A>G:p.Leu30684=	coding	Benign/Likely_benign
2	178549802	C	T	C178549802T	TTN	NM_001267550.2(TTN):c.91920G>A:p.Trp30640Ter	coding	Pathogenic/Likely_pathogenic
2	178552140	C	A	C178552140A	TTN	NM_001267550.2(TTN):c.90760G>T:p.Gly30254Ter	coding	Pathogenic/Likely_pathogenic
2	178552262	A	G	A178552262G	TTN	NM_001267550.2(TTN):c.90638T>C:p.Ile30213Thr	coding	Benign/Likely_benign
2	178553691	C	A	C178553691A	TTN	NM_001267550.2(TTN):c.89314G>T:p.Glu29772Ter	coding	Pathogenic/Likely_pathogenic
2	178553740	C	T	C178553740T	TTN	NM_001267550.2(TTN):c.89265G>A:p.Trp29755Ter	coding	Pathogenic/Likely_pathogenic
2	178553765	G	C	G178553765C	TTN	NM_001267550.2(TTN):c.89240C>G:p.Thr29747Ser	coding	Benign/Likely_benign
2	178554568	A	T	A178554568T	TTN	NM_001267550.2(TTN):c.88779T>A:p.Ile29593=	coding	Benign/Likely_benign
2	178555443	A	G	A178555443G	TTN	NM_001267550.2(TTN):c.88307-291T>C	noncoding	Benign
2	178556743	T	G	T178556743G	TTN	NM_001267550.2(TTN):c.88306+105A>C	noncoding	Benign
2	178557002	C	T	C178557002T	TTN	NM_001267550.2(TTN):c.88152G>A:p.Lys29384=	coding	Benign/Likely_benign
2	178558758	G	A	G178558758A	TTN	NM_001267550.2(TTN):c.86822-121C>T	noncoding	Benign
2	178559310	C	T	C178559310T	TTN	NM_001267550.2(TTN):c.86821+1G>A	noncoding	Pathogenic
2	178559390	G	A	G178559390A	TTN	NM_001267550.2(TTN):c.86742C>T:p.Ile28914=	coding	Benign/Likely_benign
2	178561187	A	T	A178561187T	TTN	NM_001267550.2(TTN):c.84945T>A:p.Thr28315=	coding	Benign/Likely_benign
2	178561608	C	T	C178561608T	TTN	NM_001267550.2(TTN):c.84524G>A:p.Trp28175Ter	coding	Pathogenic/Likely_pathogenic
2	178562635	C	A	C178562635A	TTN	NM_001267550.2(TTN):c.83497G>T:p.Gly27833Ter	coding	Pathogenic
2	178562716	G	A	G178562716A	TTN	NM_001267550.2(TTN):c.83416C>T:p.Arg27806Ter	coding	Pathogenic/Likely_pathogenic
2	178563859	G	A	G178563859A	TTN	NM_001267550.2(TTN):c.82273C>T:p.Gln27425Ter	coding	Pathogenic/Likely_pathogenic
2	178563877	G	A	G178563877A	TTN	NM_001267550.2(TTN):c.82255C>T:p.Gln27419Ter	coding	Pathogenic/Likely_pathogenic
2	178563892	G	A	G178563892A	TTN	NM_001267550.2(TTN):c.82240C>T:p.Arg27414Ter	coding	Pathogenic/Likely_pathogenic
2	178563968	G	C	G178563968C	TTN	NM_001267550.2(TTN):c.82164C>G:p.Tyr27388Ter	coding	Pathogenic
2	178564858	G	A	G178564858A	TTN	NM_001267550.2(TTN):c.81274C>T:p.Gln27092Ter	coding	Pathogenic
2	178566448	G	A	G178566448A	TTN	NM_001267550.2(TTN):c.79684C>T:p.Arg26562Ter	coding	Pathogenic/Likely_pathogenic
2	178567114	C	A	C178567114A	TTN	NM_001267550.2(TTN):c.79018G>T:p.Glu26340Ter	coding	Pathogenic/Likely_pathogenic
2	178568680	C	A	C178568680A	TTN	NM_001267550.2(TTN):c.77452G>T:p.Glu25818Ter	coding	Pathogenic/Likely_pathogenic
2	178569478	G	A	G178569478A	TTN	NM_001267550.2(TTN):c.76654C>T:p.Arg25552Ter	coding	Pathogenic/Likely_pathogenic
2	178570387	G	A	G178570387A	TTN	NM_001267550.2(TTN):c.75745C>T:p.Arg25249Cys	coding	Benign/Likely_benign
2	178573187	G	C	G178573187C	TTN	NM_001267550.2(TTN):c.72945C>G:p.Tyr24315Ter	coding	Pathogenic/Likely_pathogenic
2	178573276	C	A	C178573276A	TTN	NM_001267550.2(TTN):c.72856G>T:p.Gly24286Ter	coding	Pathogenic
2	178573412	A	G	A178573412G	TTN	NM_001267550.2(TTN):c.72720T>C:p.Val24240=	coding	Benign/Likely_benign
2	178575132	C	T	C178575132T	TTN	NM_001267550.2(TTN):c.71000G>A:p.Trp23667Ter	coding	Pathogenic/Likely_pathogenic
2	178575278	T	C	T178575278C	TTN	NM_001267550.2(TTN):c.70854A>G:p.Glu23618=	coding	Benign/Likely_benign
2	178575938	A	G	A178575938G	TTN	NM_001267550.2(TTN):c.70194T>C:p.Thr23398=	coding	Benign/Likely_benign
2	178576722	A	C	A178576722C	TTN	NM_001267550.2(TTN):c.69522T>G:p.Tyr23174Ter	coding	Pathogenic
2	178578094	T	G	T178578094G	TTN	NM_001267550.2(TTN):c.68421A>C:p.Gly22807=	coding	Benign/Likely_benign
2	178578638	T	A	T178578638A	TTN	NM_001267550.2(TTN):c.68302A>T:p.Lys22768Ter	coding	Pathogenic
2	178579899	A	C	A178579899C	TTN	NM_001267550.2(TTN):c.67348+40T>G	noncoding	Benign
2	178579939	G	A	G178579939A	TTN	NM_001267550.2(TTN):c.67348C>T:p.Gln22450Ter	coding	Pathogenic
2	178580008	G	A	G178580008A	TTN	NM_001267550.2(TTN):c.67279C>T:p.Arg22427Ter	coding	Pathogenic
2	178580509	A	G	A178580509G	TTN	NM_001267550.2(TTN):c.66870T>C:p.Pro22290=	coding	Benign/Likely_benign
2	178581640	G	A	G178581640A	TTN	NM_001267550.2(TTN):c.66628C>T:p.Gln22210Ter	coding	Pathogenic/Likely_pathogenic
2	178582534	C	T	C178582534T	TTN	NM_001267550.2(TTN):c.65922G>A:p.Met21974Ile	coding	Benign
2	178582939	C	T	C178582939T	TTN	NM_001267550.2(TTN):c.65863+1G>A	noncoding	Pathogenic
2	178583027	C	T	C178583027T	TTN	NM_001267550.2(TTN):c.65776G>A:p.Val21926Met	coding	Benign/Likely_benign
2	178583103	A	G	A178583103G	TTN	NM_001267550.2(TTN):c.65700T>C:p.Asp21900=	coding	Benign/Likely_benign
2	178584673	T	C	T178584673C	TTN	NM_001267550.2(TTN):c.64968A>G:p.Pro21656=	coding	Benign/Likely_benign
2	178584868	G	A	G178584868A	TTN	NM_001267550.2(TTN):c.64773C>T:p.Asn21591=	coding	Benign/Likely_benign
2	178585291	G	A	G178585291A	TTN	NM_001267550.2(TTN):c.64453C>T:p.Arg21485Ter	coding	Pathogenic/Likely_pathogenic
2	178586491	C	T	C178586491T	TTN	NM_001267550.2(TTN):c.64396+14G>A	noncoding	Benign/Likely_benign
2	178586933	A	G	A178586933G	TTN	NM_001267550.2(TTN):c.64094-126T>C	noncoding	Benign
2	178587200	G	T	G178587200T	TTN	NM_001267550.2(TTN):c.64011C>A:p.Tyr21337Ter	coding	Pathogenic/Likely_pathogenic
2	178587515	C	T	C178587515T	TTN	NM_001267550.2(TTN):c.63793+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	178587708	G	A	G178587708A	TTN	NM_001267550.2(TTN):c.63601C>T:p.Arg21201Ter	coding	Pathogenic/Likely_pathogenic
2	178588715	C	A	C178588715A	TTN	NM_001267550.2(TTN):c.63010G>T:p.Glu21004Ter	coding	Pathogenic/Likely_pathogenic
2	178589804	G	A	G178589804A	TTN	NM_001267550.2(TTN):c.61921C>T:p.Arg20641Ter	coding	Pathogenic/Likely_pathogenic
2	178590750	G	A	G178590750A	TTN	NM_001267550.2(TTN):c.60975C>T:p.Ile20325=	coding	Benign/Likely_benign
2	178591146	C	T	C178591146T	TTN	NM_001267550.2(TTN):c.60579G>A:p.Trp20193Ter	coding	Pathogenic/Likely_pathogenic
2	178592719	A	G	A178592719G	TTN	NM_001267550.2(TTN):c.59344+56T>C	noncoding	Benign
2	178593288	C	T	C178593288T	TTN	NM_001267550.2(TTN):c.58920G>A:p.Arg19640=	coding	Benign/Likely_benign
2	178593338	G	A	G178593338A	TTN	NM_001267550.2(TTN):c.58870C>T:p.Arg19624Ter	coding	Pathogenic/Likely_pathogenic
2	178593624	A	T	A178593624T	TTN	NM_001267550.2(TTN):c.58676T>A:p.Leu19559Gln	coding	Benign/Likely_benign
2	178593719	C	T	C178593719T	TTN	NM_001267550.2(TTN):c.58581G>A:p.Trp19527Ter	coding	Pathogenic/Likely_pathogenic
2	178593887	T	C	T178593887C	TTN	NM_001267550.2(TTN):c.58433-20A>G	noncoding	Benign/Likely_benign
2	178595435	A	T	A178595435T	TTN	NM_001267550.2(TTN):c.57847+72T>A	noncoding	Benign
2	178595585	G	A	G178595585A	TTN	NM_001267550.2(TTN):c.57769C>T:p.Arg19257Ter	coding	Pathogenic/Likely_pathogenic
2	178598135	C	T	C178598135T	TTN	NM_001267550.2(TTN):c.57112-77G>A	noncoding	Benign
2	178599518	A	G	A178599518G	TTN	NM_001267550.2(TTN):c.56347+36T>C	noncoding	Benign
2	178600870	A	G	A178600870G	TTN	NM_001267550.2(TTN):c.56034T>C:p.Thr18678=	coding	Benign/Likely_benign
2	178603654	T	A	T178603654A	TTN	NM_001267550.2(TTN):c.54811+222A>T	noncoding	Benign
2	178605110	G	A	G178605110A	TTN	NM_001267550.2(TTN):c.54067C>T:p.Arg18023Ter	coding	Pathogenic/Likely_pathogenic
2	178605177	C	T	C178605177T	TTN	NM_001267550.2(TTN):c.54000G>A:p.Trp18000Ter	coding	Pathogenic/Likely_pathogenic
2	178605552	G	A	G178605552A	TTN	NM_001267550.2(TTN):c.53743C>T:p.Arg17915Ter	coding	Pathogenic/Likely_pathogenic
2	178607002	A	G	A178607002G	TTN	NM_001267550.2(TTN):c.53581+19T>C	noncoding	Benign/Likely_benign
2	178607482	G	A	G178607482A	TTN	NM_001267550.2(TTN):c.53206C>T:p.Arg17736Ter	coding	Pathogenic/Likely_pathogenic
2	178608062	G	A	G178608062A	TTN	NM_001267550.2(TTN):c.52725C>T:p.Ile17575_Pro17576=	coding	Benign
2	178609756	G	A	G178609756A	TTN	NM_001267550.2(TTN):c.51667C>T:p.Arg17223Ter	coding	Pathogenic/Likely_pathogenic
2	178610089	C	T	C178610089T	TTN	NM_001267550.2(TTN):c.51436+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	178612749	T	G	T178612749G	TTN	NM_001267550.2(TTN):c.49948+24A>C	noncoding	Benign
2	178613052	T	A	T178613052A	TTN	NM_001267550.2(TTN):c.49669A>T:p.Lys16557Ter	coding	Pathogenic
2	178613160	C	A	C178613160A	TTN	NM_001267550.2(TTN):c.49648+1G>T	noncoding	Pathogenic
2	178614134	G	T	G178614134T	TTN	NM_001267550.2(TTN):c.49263C>A:p.Tyr16421Ter	coding	Pathogenic/Likely_pathogenic
2	178614197	C	T	C178614197T	TTN	NM_001267550.2(TTN):c.49200G>A:p.Lys16400=	coding	Benign/Likely_benign
2	178615195	C	T	C178615195T	TTN	NM_001267550.2(TTN):c.48638+112G>A	noncoding	Benign
2	178615215	T	A	T178615215A	TTN	NM_001267550.2(TTN):c.48638+92A>T	noncoding	Benign
2	178616578	T	G	T178616578G	TTN	NM_001267550.2(TTN):c.48213A>C:p.Ser16071=	coding	Benign/Likely_benign
2	178617136	G	A	G178617136A	TTN	NM_001267550.2(TTN):c.47859C>T:p.Thr15953=	coding	Benign/Likely_benign
2	178620165	T	A	T178620165A	TTN	NM_001267550.2(TTN):c.46304+52A>T	coding	Benign
2	178620379	A	G	A178620379G	TTN	NM_001267550.2(TTN):c.46142T>C:p.Val15381Ala	coding	Benign/Likely_benign
2	178620546	C	G	C178620546G	TTN	NM_001267550.2(TTN):c.45975G>C:p.Val15325=	coding	Benign
2	178634091	G	A	G178634091A	TTN	NM_001267550.2(TTN):c.42416-8C>T	noncoding	Benign/Likely_benign
2	178635962	C	A	C178635962A	TTN	NM_001267550.2(TTN):c.41608+1G>T	noncoding	Pathogenic
2	178640789	C	G	C178640789G	TTN	NM_001267550.2(TTN):c.40634-159G>C	noncoding	Benign
2	178641169	A	G	A178641169G	TTN	NM_001267550.2(TTN):c.40633+72T>C	noncoding	Benign
2	178642063	A	T	A178642063T	TTN	NM_001267550.2(TTN):c.40558+174T>A	noncoding	Benign
2	178645777	G	C	G178645777C	TTN	NM_001267550.2(TTN):c.40408+143C>G	noncoding	Benign
2	178646574	G	C	G178646574C	TTN	NM_001267550.2(TTN):c.40223-15C>G	noncoding	Benign
2	178649074	C	T	C178649074T	TTN	NM_001267550.2(TTN):c.40057+174G>A	noncoding	Benign
2	178649693	G	A	G178649693A	TTN	NM_001267550.2(TTN):c.39896-62C>T	noncoding	Benign
2	178649781	A	C	A178649781C	TTN	NM_001267550.2(TTN):c.39895+36T>G	noncoding	Benign
2	178650710	T	G	T178650710G	TTN	NM_001267550.2(TTN):c.39709+41A>C	noncoding	Benign
2	178650960	T	C	T178650960C	TTN	NM_001267550.2(TTN):c.39626-126A>G	noncoding	Benign
2	178652188	G	T	G178652188T	TTN	NM_001267550.2(TTN):c.39212-9C>A	noncoding	Benign/Likely_benign
2	178652476	C	A	C178652476A	TTN	NM_001267550.2(TTN):c.39109G>T:p.Glu13037Ter	coding	Pathogenic
2	178653226	A	G	A178653226G	TTN	NM_001267550.2(TTN):c.38791+12T>C	noncoding	Benign
2	178653292	C	A	C178653292A	TTN	NM_001267550.2(TTN):c.38737G>T:p.Glu12913Ter	coding	Pathogenic/Likely_pathogenic
2	178654133	C	T	C178654133T	TTN	NM_001267550.2(TTN):c.38381-38G>A	noncoding	Benign
2	178654252	A	G	A178654252G	TTN	NM_001267550.2(TTN):c.38336T>C:p.Val12779Ala	coding	Benign/Likely_benign
2	178654550	T	C	T178654550C	TTN	NM_001267550.2(TTN):c.38207-16A>G	noncoding	Benign
2	178654576	T	C	T178654576C	TTN	NM_001267550.2(TTN):c.38207-42A>G	noncoding	Benign
2	178657735	T	A	T178657735A	TTN	NM_001267550.2(TTN):c.37906A>T:p.Lys12636Ter	coding	Pathogenic
2	178658723	C	T	C178658723T	TTN	NM_001267550.2(TTN):c.37525G>A:p.Glu12509Lys	coding	Benign/Likely_benign
2	178658884	T	C	T178658884C	TTN	NM_001267550.2(TTN):c.37454-90A>G	noncoding	Benign
2	178662235	T	C	T178662235C	TTN	NM_001267550.2(TTN):c.37040-13A>G	noncoding	Benign/Likely_benign
2	178662542	C	T	C178662542T	TTN	NM_001267550.2(TTN):c.36949G>A:p.Ala12317Thr	coding	Benign/Likely_benign
2	178663650	T	A	T178663650A	TTN	NM_001267550.2(TTN):c.36509A>T:p.Glu12170Val	coding	Benign/Likely_benign
2	178664770	T	G	T178664770G	TTN	NM_001267550.2(TTN):c.36119-33A>C	noncoding	Benign
2	178666966	A	G	A178666966G	TTN	NM_001267550.2(TTN):c.35798-65T>C	noncoding	Benign
2	178667930	T	C	T178667930C	TTN	NM_001267550.2(TTN):c.35546-209A>G	noncoding	Benign
2	178670552	T	C	T178670552C	TTN	NM_001267550.2(TTN):c.35309-257A>G	noncoding	Benign
2	178672645	G	A	G178672645A	TTN	NM_001267550.2(TTN):c.34845C>T:p.Pro11615=	coding	Benign/Likely_benign
2	178675734	G	T	G178675734T	TTN	NM_001267550.2(TTN):c.34474C>A:p.Pro11492Thr	coding	Benign/Likely_benign
2	178676009	A	G	A178676009G	TTN	NM_001267550.2(TTN):c.34379-14T>C	noncoding	Benign/Likely_benign
2	178676991	G	A	G178676991A	TTN	NM_001267550.2(TTN):c.34378+210C>T	noncoding	Benign
2	178677172	C	G	C178677172G	TTN	NM_001267550.2(TTN):c.34378+29G>C	noncoding	Benign
2	178677431	A	G	A178677431G	TTN	NM_001267550.2(TTN):c.34292-144T>C	noncoding	Benign
2	178681061	G	A	G178681061A	TTN	NM_001267550.2(TTN):c.33340+18C>T	noncoding	Benign/Likely_benign
2	178683475	C	A	C178683475A	TTN	NM_001267550.2(TTN):c.32807-184G>T	noncoding	Benign
2	178689028	G	T	G178689028T	TTN	NM_001267550.2(TTN):c.32095+25C>A	noncoding	Benign
2	178695391	A	C	A178695391C	TTN	NM_001267550.2(TTN):c.31227T>G:p.Val10409=	coding	Benign/Likely_benign
2	178695441	T	C	T178695441C	TTN	NM_001267550.2(TTN):c.31208-31A>G	noncoding	Benign
2	178701311	C	T	C178701311T	TTN	NM_001267550.2(TTN):c.30599-108G>A	noncoding	Benign
2	178701324	C	T	C178701324T	TTN	NM_001267550.2(TTN):c.30599-121G>A	noncoding	Benign
2	178701365	T	G	T178701365G	TTN	NM_001267550.2(TTN):c.30599-162A>C	noncoding	Benign
2	178701419	T	G	T178701419G	TTN	NM_001267550.2(TTN):c.30598+109A>C	noncoding	Benign
2	178702034	A	C	A178702034C	TTN	NM_001267550.2(TTN):c.30538+6T>G	noncoding	Benign/Likely_benign
2	178705395	C	A	C178705395A	TTN	NM_001267550.2(TTN):c.29421-38G>T	noncoding	Benign
2	178707508	C	A	C178707508A	TTN	NM_001267550.2(TTN):c.29041+18G>T	noncoding	Benign
2	178710738	G	A	G178710738A	TTN	NM_001267550.2(TTN):c.28359C>T:p.His9453=	coding	Benign/Likely_benign
2	178713610	A	C	A178713610C	TTN	NM_001267550.2(TTN):c.26762-238T>G	noncoding	Benign
2	178714593	G	T	G178714593T	TTN	NM_001267550.2(TTN):c.26201-20C>A	noncoding	Benign/Likely_benign
2	178717505	G	T	G178717505T	TTN	NM_001267550.2(TTN):c.25351+18C>A	noncoding	Benign/Likely_benign
2	178717510	G	C	G178717510C	TTN	NM_001267550.2(TTN):c.25351+13C>G	noncoding	Benign/Likely_benign
2	178719576	G	A	G178719576A	TTN	NM_001267550.2(TTN):c.23916C>T:p.Cys7972=	coding	Benign/Likely_benign
2	178721236	A	G	A178721236G	TTN	NM_001267550.2(TTN):c.22817-34T>C	noncoding	Benign
2	178721379	A	T	A178721379T	TTN	NM_001267550.2(TTN):c.22817-177T>A	noncoding	Benign
2	178724501	C	T	C178724501T	TTN	NM_001267550.2(TTN):c.20874G>A:p.Thr6958=	coding	Benign/Likely_benign
2	178724557	T	C	T178724557C	TTN	NM_001267550.2(TTN):c.20837-19A>G	noncoding	Benign/Likely_benign
2	178724644	G	T	G178724644T	TTN	NM_001267550.2(TTN):c.20837-106C>A	noncoding	Benign
2	178725192	A	C	A178725192C	TTN	NM_001267550.2(TTN):c.20836+176T>G	noncoding	Benign
2	178725663	G	C	G178725663C	TTN	NM_001267550.2(TTN):c.20555-14C>G	noncoding	Benign/Likely_benign
2	178727434	A	G	A178727434G	TTN	NM_001267550.2(TTN):c.19994-63T>C	noncoding	Benign
2	178728008	C	A	C178728008A	TTN	NM_001267550.2(TTN):c.19714+102G>T	noncoding	Benign
2	178729100	C	G	C178729100G	TTN	NM_001267550.2(TTN):c.18938G>C:p.Ser6313Thr	coding	Benign
2	178730385	A	G	A178730385G	TTN	NM_001267550.2(TTN):c.18029-14T>C	noncoding	Benign
2	178730908	A	G	A178730908G	TTN	NM_001267550.2(TTN):c.17740+17T>C	noncoding	Benign/Likely_benign
2	178732424	A	C	A178732424C	TTN	NM_001267550.2(TTN):c.16621+16T>G	noncoding	Benign/Likely_benign
2	178734623	G	A	G178734623A	TTN	NM_001267550.2(TTN):c.15218-17C>T	noncoding	Benign
2	178739414	T	C	T178739414C	TTN	NM_001267550.2(TTN):c.13819A>G:p.Met4607Val	coding	Benign/Likely_benign
2	178739544	G	A	G178739544A	TTN	NM_001267550.2(TTN):c.13689C>T:p.Asp4563=	coding	Benign/Likely_benign
2	178739641	G	C	G178739641C	TTN	NM_001267550.2(TTN):c.13592C>G:p.Ser4531Ter	coding	Pathogenic
2	178740144	G	A	G178740144A	TTN	NM_001267550.2(TTN):c.13089C>T:p.Pro4363=	coding	Benign/Likely_benign
2	178740675	T	C	T178740675C	TTN	NM_001267550.2(TTN):c.12558A>G:p.Pro4186=	coding	Benign/Likely_benign
2	178741038	A	G	A178741038G	TTN	NM_001267550.2(TTN):c.12195T>C:p.Leu4065=	coding	Benign/Likely_benign
2	178742184	C	T	C178742184T	TTN	NM_001267550.2(TTN):c.11312-263G>A	noncoding	Benign
2	178746199	A	G	A178746199G	TTN	NM_133379.5(TTN):c.16201T>C:p.Cys5401Arg	coding	Benign/Likely_benign
2	178746399	G	A	G178746399A	TTN	NM_133379.5(TTN):c.16001C>T:p.Pro5334Leu	coding	Benign/Likely_benign
2	178748084	C	T	C178748084T	TTN	NM_133379.5(TTN):c.14316G>A:p.Glu4772=	coding	Benign
2	178749110	A	G	A178749110G	TTN	NM_133379.5(TTN):c.13290T>C:p.Ser4430=	coding	Benign/Likely_benign
2	178750472	C	T	C178750472T	TTN	NM_133379.5(TTN):c.11928G>A:p.Thr3976=	coding	Benign/Likely_benign
2	178750826	T	C	T178750826C	TTN	NM_133379.5(TTN):c.11574A>G:p.Val3858=	coding	Benign
2	178751558	T	C	T178751558C	TTN	NM_133379.5(TTN):c.10842A>G:p.Glu3614=	coding	Benign/Likely_benign
2	178753292	T	A	T178753292A	TTN	NM_001267550.2(TTN):c.11255-112A>T	noncoding	Benign
2	178757230	A	C	A178757230C	TTN	NM_001267550.2(TTN):c.10678+312T>G	noncoding	Benign
2	178759173	C	T	C178759173T	TTN	NM_001267550.2(TTN):c.10115-1G>A	coding	Pathogenic
2	178759212	T	C	T178759212C	TTN	NM_001267550.2(TTN):c.10115-40A>G	noncoding	Benign
2	178763953	G	C	G178763953C	TTN	NM_001267550.2(TTN):c.10114+224C>G	noncoding	Benign
2	178767849	G	T	G178767849T	TTN	NM_001267550.2(TTN):c.9381C>A:p.Tyr3127Ter	coding	Pathogenic/Likely_pathogenic
2	178767983	T	C	T178767983C	TTN	NM_001267550.2(TTN):c.9305+31A>G	noncoding	Benign
2	178768571	G	T	G178768571T	TTN	NM_001267550.2(TTN):c.9163+102C>A	noncoding	Benign
2	178770561	C	G	C178770561G	TTN	NM_001267550.2(TTN):c.8231G>C:p.Gly2744Ala	coding	Benign/Likely_benign
2	178771062	A	T	A178771062T	TTN	NM_001267550.2(TTN):c.8116+149T>A	noncoding	Benign
2	178771155	C	T	C178771155T	TTN	NM_001267550.2(TTN):c.8116+56G>A	noncoding	Benign
2	178773206	T	C	T178773206C	TTN	NM_001267550.2(TTN):c.7758A>G:p.Ile2586Met	coding	Benign/Likely_benign
2	178774570	C	T	C178774570T	TTN	NM_001267550.2(TTN):c.6791-97G>A	noncoding	Benign
2	178774771	C	G	C178774771G	TTN	NM_001267550.2(TTN):c.6790+150G>C	noncoding	Benign
2	178775205	A	G	A178775205G	TTN	NM_001267550.2(TTN):c.6509-3T>C	noncoding	Benign
2	178775561	G	A	G178775561A	TTN	NM_001267550.2(TTN):c.6303C>T:p.Val2101=	coding	Benign/Likely_benign
2	178776758	T	C	T178776758C	TTN	NM_001267550.2(TTN):c.5106A>G:p.Lys1702=	coding	Benign/Likely_benign
2	178777895	G	T	G178777895T	TTN	NM_001267550.2(TTN):c.4289C>A:p.Ala1430Glu	coding	Benign/Likely_benign
2	178778198	T	C	T178778198C	TTN	NM_001267550.2(TTN):c.4209-223A>G	coding	Benign
2	178779159	A	G	A178779159G	TTN	NM_001267550.2(TTN):c.3964-41T>C	noncoding	Benign
2	178779207	A	G	A178779207G	TTN	NM_001267550.2(TTN):c.3963+22T>C	noncoding	Benign
2	178779577	G	A	G178779577A	TTN	NM_001267550.2(TTN):c.3730-115C>T	noncoding	Benign
2	178780002	G	A	G178780002A	TTN	NM_001267550.2(TTN):c.3727C>T:p.Gln1243Ter	coding	Pathogenic
2	178780379	A	T	A178780379T	TTN	NM_001267550.2(TTN):c.3524-174T>A	noncoding	Benign
2	178783076	A	G	A178783076G	TTN	NM_001267550.2(TTN):c.2842-12T>C	noncoding	Benign
2	178783096	C	T	C178783096T	TTN	NM_001267550.2(TTN):c.2842-32G>A	noncoding	Benign
2	178783175	G	T	G178783175T	TTN	NM_001267550.2(TTN):c.2842-111C>A	noncoding	Benign
2	178784647	C	T	C178784647T	TTN	NM_001267550.2(TTN):c.2494-296G>A	noncoding	Benign
2	178785908	C	A	C178785908A	TTN	NM_001267550.2(TTN):c.2310G>T:p.Gln770His	coding	Benign/Likely_benign
2	178785954	G	A	G178785954A	TTN	NM_001267550.2(TTN):c.2264C>T:p.Ser755Leu	coding	Benign/Likely_benign
2	178786058	A	C	A178786058C	TTN	NM_001267550.2(TTN):c.2160T>G:p.Pro720=	coding	Benign/Likely_benign
2	178790916	C	T	C178790916T	TTN	NM_001267550.2(TTN):c.1663-71G>A	noncoding	Benign
2	178794607	A	C	A178794607C	TTN	NM_001267550.2(TTN):c.1246-56T>G	noncoding	Benign
2	178795303	T	C	T178795303C	TTN	NM_001267550.2(TTN):c.915-51A>G	noncoding	Benign
2	178795375	C	T	C178795375T	TTN	NM_001267550.2(TTN):c.915-123G>A	noncoding	Benign
2	178800113	T	C	T178800113C	TTN	NM_001267550.2(TTN):c.584-203A>G	noncoding	Benign
2	178802103	G	A	G178802103A	TTN	NM_001267550.2(TTN):c.295+35C>T	noncoding	Benign
2	178804497	T	C	T178804497C	TTN	NM_001267550.2(TTN):c.91+55A>G	noncoding	Benign
2	178833869	G	A	G178833869A	CCDC141	NM_173648.4(CCDC141):c.*304C>T	noncoding	Benign
2	178834117	G	A	G178834117A	CCDC141	NM_173648.4(CCDC141):c.*56C>T	noncoding	Benign
2	178834218	G	A	G178834218A	CCDC141	NM_173648.4(CCDC141):c.4548C>T:p.Val1516=	coding	Benign
2	178837541	A	G	A178837541G	CCDC141	NM_173648.4(CCDC141):c.3678T>C:p.Pro1226=	coding	Benign
2	178837710	T	C	T178837710C	CCDC141	NM_173648.4(CCDC141):c.3509A>G:p.Asn1170Ser	coding	Benign
2	178837883	C	T	C178837883T	CCDC141	NM_173648.4(CCDC141):c.3475-139G>A	noncoding	Benign
2	178845823	C	G	C178845823G	CCDC141	NM_173648.4(CCDC141):c.3358-81G>C	noncoding	Benign
2	178845979	A	G	A178845979G	CCDC141	NM_173648.4(CCDC141):c.3358-237T>C	noncoding	Benign
2	178849948	C	T	C178849948T	CCDC141	NM_173648.4(CCDC141):c.3357+101G>A	noncoding	Benign
2	178853406	T	A	T178853406A	CCDC141	NM_173648.4(CCDC141):c.3244+35A>T	noncoding	Benign
2	178855239	A	T	A178855239T	CCDC141	NM_173648.4(CCDC141):c.3060+108T>A	noncoding	Benign
2	178856305	C	T	C178856305T	CCDC141	NM_173648.4(CCDC141):c.2817G>A:p.Ala939=	coding	Benign
2	178856319	G	A	G178856319A	CCDC141	NM_173648.4(CCDC141):c.2803C>T:p.Arg935Trp	coding	Benign
2	178865541	A	G	A178865541G	CCDC141	NM_173648.4(CCDC141):c.2724+226T>C	noncoding	Benign
2	178866125	A	G	A178866125G	CCDC141	NM_173648.4(CCDC141):c.2575-209T>C	noncoding	Benign
2	178867798	T	A	T178867798A	CCDC141	NM_173648.4(CCDC141):c.2574+228A>T	noncoding	Benign
2	178867909	T	C	T178867909C	CCDC141	NM_173648.4(CCDC141):c.2574+117A>G	noncoding	Benign
2	178868118	G	A	G178868118A	CCDC141	NM_173648.4(CCDC141):c.2482C>T:p.Arg828Trp	coding	Benign
2	178868253	A	G	A178868253G	CCDC141	NM_173648.4(CCDC141):c.2395-48T>C	noncoding	Benign
2	178868270	A	T	A178868270T	CCDC141	NM_173648.4(CCDC141):c.2395-65T>A	noncoding	Benign
2	178868284	A	T	A178868284T	CCDC141	NM_173648.4(CCDC141):c.2395-79T>A	noncoding	Benign
2	178868840	T	C	T178868840C	CCDC141	NM_173648.4(CCDC141):c.2394+277A>G	noncoding	Benign
2	178868867	C	A	C178868867A	CCDC141	NM_173648.4(CCDC141):c.2394+250G>T	noncoding	Benign
2	178869417	C	T	C178869417T	CCDC141	NM_173648.4(CCDC141):c.2206-112G>A	noncoding	Benign
2	178871219	A	G	A178871219G	CCDC141	NM_173648.4(CCDC141):c.2205+208T>C	noncoding	Benign
2	178871279	T	G	T178871279G	CCDC141	NM_173648.4(CCDC141):c.2205+148A>C	noncoding	Benign
2	178871285	T	C	T178871285C	CCDC141	NM_173648.4(CCDC141):c.2205+142A>G	noncoding	Benign
2	178871847	A	G	A178871847G	CCDC141	NM_173648.4(CCDC141):c.2079+286T>C	noncoding	Benign
2	178872417	C	A	C178872417A	CCDC141	NM_173648.4(CCDC141):c.1900-105G>T	noncoding	Benign
2	178878269	A	G	A178878269G	CCDC141	NM_173648.4(CCDC141):c.1720-126T>C	noncoding	Benign
2	178878299	A	T	A178878299T	CCDC141	NM_173648.4(CCDC141):c.1720-156T>A	noncoding	Benign
2	178878300	T	A	T178878300A	CCDC141	NM_173648.4(CCDC141):c.1720-157A>T	noncoding	Benign
2	178884774	A	G	A178884774G	CCDC141	NM_173648.4(CCDC141):c.1719+127T>C	noncoding	Benign
2	178885360	T	C	T178885360C	CCDC141	NM_173648.4(CCDC141):c.1528-268A>G	noncoding	Benign
2	178887044	G	A	G178887044A	CCDC141	NM_173648.4(CCDC141):c.1408-173C>T	noncoding	Benign
2	178887090	T	A	T178887090A	CCDC141	NM_173648.4(CCDC141):c.1408-219A>T	noncoding	Benign
2	178888218	C	T	C178888218T	CCDC141	NM_173648.4(CCDC141):c.1407+309G>A	noncoding	Benign
2	178888257	T	C	T178888257C	CCDC141	NM_173648.4(CCDC141):c.1407+270A>G	noncoding	Benign
2	178888518	C	T	C178888518T	CCDC141	NM_173648.4(CCDC141):c.1407+9G>A	noncoding	Benign
2	178888822	G	A	G178888822A	CCDC141	NM_173648.4(CCDC141):c.1266-154C>T	noncoding	Benign
2	178888968	C	T	C178888968T	CCDC141	NM_173648.4(CCDC141):c.1266-300G>A	noncoding	Benign
2	178905448	C	A	C178905448A	CCDC141	NM_173648.4(CCDC141):c.1146G>T:p.Glu382Asp	coding	Benign
2	178905613	A	G	A178905613G	CCDC141	NM_173648.4(CCDC141):c.1093-112T>C	noncoding	Benign
2	178918743	C	T	C178918743T	CCDC141	NM_173648.4(CCDC141):c.1062G>A:p.Lys354=	coding	Benign
2	178918969	C	A	C178918969A	CCDC141	NM_173648.4(CCDC141):c.898-62G>T	noncoding	Benign
2	178944773	C	T	C178944773T	CCDC141	NM_173648.4(CCDC141):c.781-122G>A	noncoding	Benign
2	178944836	C	T	C178944836T	CCDC141	NM_173648.4(CCDC141):c.781-185G>A	noncoding	Benign
2	178961514	A	G	A178961514G	CCDC141	NM_173648.4(CCDC141):c.527-31T>C	noncoding	Benign
2	178961679	G	A	G178961679A	CCDC141	NM_173648.4(CCDC141):c.527-196C>T	noncoding	Benign
2	178974828	C	A	C178974828A	CCDC141	NM_173648.4(CCDC141):c.526+229G>T	noncoding	Benign
2	178975106	A	G	A178975106G	CCDC141	NM_173648.4(CCDC141):c.477T>C:p.Ser159=	coding	Benign
2	178975161	G	A	G178975161A	CCDC141	NM_173648.4(CCDC141):c.422C>T:p.Ala141Val	coding	Benign
2	178975235	T	C	T178975235C	CCDC141	NM_173648.4(CCDC141):c.418-70A>G	noncoding	Benign
2	178975414	A	G	A178975414G	CCDC141	NM_173648.4(CCDC141):c.418-249T>C	noncoding	Benign
2	178978885	G	A	G178978885A	CCDC141	NM_173648.4(CCDC141):c.226-210C>T	noncoding	Benign
2	179049620	A	G	A179049620G	CCDC141	NM_173648.4(CCDC141):c.102+220T>C	noncoding	Benign
2	179049913	G	A	G179049913A	CCDC141	NM_173648.4(CCDC141):c.29C>T:p.Ala10Val	coding	Benign
2	179049922	G	A	G179049922A	CCDC141	NM_173648.4(CCDC141):c.20C>T:p.Pro7Leu	coding	Benign
2	179050394	G	C	G179050394C	CCDC141	Single_allele	noncoding	Benign
2	181482345	T	C	T181482345C	ITGA4	NM_000885.6(ITGA4):c.841-15T>C	noncoding	Benign
2	181539238	G	C	G181539238C	CERKL	NM_201548.5(CERKL):c.1392C>G:p.Tyr464Ter	coding	Pathogenic
2	181544821	C	T	C181544821T	CERKL	NM_201548.5(CERKL):c.1269-25G>A	noncoding	Benign
2	181547659	G	T	G181547659T	CERKL	NM_201548.5(CERKL):c.1227C>A:p.Cys409Ter	coding	Pathogenic
2	181547892	C	T	C181547892T	CERKL	NM_201548.5(CERKL):c.1134-45G>A	noncoding	Benign
2	181548511	C	T	C181548511T	CERKL	NM_201548.5(CERKL):c.1133+34G>A	noncoding	Benign
2	181548529	T	C	T181548529C	CERKL	NM_201548.5(CERKL):c.1133+16A>G	noncoding	Benign
2	181548605	C	G	C181548605G	CERKL	NM_201548.5(CERKL):c.1074-1G>C	coding	Pathogenic/Likely_pathogenic
2	181549795	T	G	T181549795G	CERKL	NM_201548.5(CERKL):c.821-87A>C	noncoding	Benign
2	181558564	G	C	G181558564C	CERKL	NM_201548.5(CERKL):c.820+2C>G	noncoding	Pathogenic
2	181558593	G	A	G181558593A	CERKL	NM_201548.5(CERKL):c.793C>T:p.Gln265Ter	coding	Pathogenic
2	181565393	C	A	C181565393A	CERKL	NM_201548.5(CERKL):c.677+665G>T	noncoding	Benign
2	181565449	G	A	G181565449A	CERKL	NM_201548.5(CERKL):c.677+609C>T	coding	Pathogenic
2	181573840	G	A	G181573840A	CERKL	NM_201548.5(CERKL):c.526C>T:p.Gln176Ter	coding	Pathogenic
2	181603835	A	C	A181603835C	CERKL	NM_201548.5(CERKL):c.481+2T>G	noncoding	Pathogenic/Likely_pathogenic
2	181603865	C	T	C181603865T	CERKL	NM_201548.5(CERKL):c.453G>A:p.Trp151Ter	coding	Pathogenic
2	181603939	T	A	T181603939A	CERKL	NM_201548.5(CERKL):c.379A>T:p.Lys127Ter	coding	Pathogenic
2	181603987	G	A	G181603987A	CERKL	NM_201548.5(CERKL):c.331C>T:p.Gln111Ter	coding	Pathogenic
2	181604080	C	T	C181604080T	CERKL	NM_201548.5(CERKL):c.239-1G>A	coding	Pathogenic/Likely_pathogenic
2	181604081	T	C	T181604081C	CERKL	NM_201548.5(CERKL):c.239-2A>G	noncoding	Pathogenic
2	181656753	G	C	G181656753C	CERKL	NM_201548.5(CERKL):c.238+16C>G	noncoding	Benign
2	181656814	C	A	C181656814A	CERKL	NM_201548.5(CERKL):c.193G>T:p.Glu65Ter	coding	Pathogenic
2	181656898	G	A	G181656898A	CERKL	NM_201548.5(CERKL):c.109C>T:p.Gln37Ter	coding	Pathogenic
2	181656938	C	T	C181656938T	CERKL	NM_201548.5(CERKL):c.69G>A:p.Pro23=	coding	Benign
2	181656998	C	T	C181656998T	CERKL	NM_201548.5(CERKL):c.9G>A:p.Trp3Ter	coding	Pathogenic
2	181656999	C	T	C181656999T	CERKL	NM_201548.5(CERKL):c.8G>A:p.Trp3Ter	coding	Pathogenic
2	181657004	C	T	C181657004T	CERKL	NM_201548.5(CERKL):c.3G>A:p.Met1Ile	coding	Pathogenic
2	181657005	A	C	A181657005C	CERKL	NM_201548.5(CERKL):c.2T>G:p.Met1Arg	coding	Pathogenic
2	181657005	A	G	A181657005G	CERKL	NM_201548.5(CERKL):c.2T>C:p.Met1Thr	coding	Pathogenic
2	181678110	C	A	C181678110A	NEUROD1	NM_002500.5(NEUROD1):c.751G>T:p.Ala251Ser	coding	Benign
2	182168051	T	C	T182168051C	PDE1A	NM_001363871.4(PDE1A):c.1516+17841A>G	coding	Benign
2	182168475	A	G	A182168475G	PDE1A	NM_001363871.4(PDE1A):c.1516+17417T>C	noncoding	Benign
2	182186236	C	G	C182186236G	PDE1A	NM_001363871.4(PDE1A):c.1329-157G>C	noncoding	Benign
2	182186694	A	G	A182186694G	PDE1A	NM_001363871.4(PDE1A):c.1208-106T>C	noncoding	Benign
2	182186722	T	C	T182186722C	PDE1A	NM_001363871.4(PDE1A):c.1208-134A>G	noncoding	Benign
2	182188917	T	A	T182188917A	PDE1A	NM_001363871.4(PDE1A):c.1207+62A>T	noncoding	Benign
2	182188931	C	G	C182188931G	PDE1A	NM_001363871.4(PDE1A):c.1207+48G>C	noncoding	Benign
2	182201664	C	A	C182201664A	PDE1A	NM_001363871.4(PDE1A):c.1004+24G>T	noncoding	Benign
2	182205853	G	A	G182205853A	PDE1A	NM_001363871.4(PDE1A):c.902+87C>T	noncoding	Benign
2	182205892	A	T	A182205892T	PDE1A	NM_001363871.4(PDE1A):c.902+48T>A	noncoding	Benign
2	182206184	G	A	G182206184A	PDE1A	NM_001363871.4(PDE1A):c.777-119C>T	noncoding	Benign
2	182223857	G	A	G182223857A	PDE1A	NM_001363871.4(PDE1A):c.776+7C>T	noncoding	Benign
2	182229946	A	C	A182229946C	PDE1A	NM_001363871.4(PDE1A):c.675+60T>G	noncoding	Benign
2	182230782	A	G	A182230782G	PDE1A	NM_001363871.4(PDE1A):c.534+233T>C	noncoding	Benign
2	182241700	C	G	C182241700G	PDE1A	NM_001363871.4(PDE1A):c.168-1408G>C	noncoding	Benign
2	182242031	T	G	T182242031G	PDE1A	NM_001363871.4(PDE1A):c.168-1739A>C	coding	Benign
2	182242098	T	C	T182242098C	PDE1A	NM_001363871.4(PDE1A):c.168-1806A>G	noncoding	Benign
2	182242270	G	T	G182242270T	PDE1A	NM_001363871.4(PDE1A):c.168-1978C>A	noncoding	Benign
2	182264099	T	C	T182264099C	PDE1A	NM_001363871.4(PDE1A):c.167+202A>G	noncoding	Benign
2	182264515	A	G	A182264515G	PDE1A	NM_001363871.4(PDE1A):c.54-101T>C	noncoding	Benign
2	182522163	G	A	G182522163A	PDE1A	NM_005019.7(PDE1A):c.101+113C>T	noncoding	Benign
2	182522885	T	C	T182522885C	PDE1A	Single_allele	noncoding	Benign
2	182934830	G	C	G182934830C	NCKAP1	NM_013436.5(NCKAP1):c.2781C>G:p.Val927=	coding	Benign
2	182962290	G	A	G182962290A	NCKAP1	NM_013436.5(NCKAP1):c.1762-12C>T	noncoding	Benign
2	182986233	T	G	T182986233G	NCKAP1	NM_013436.5(NCKAP1):c.948-6A>C	noncoding	Benign
2	184936178	A	T	A184936178T	ZNF804A	NM_194250.2(ZNF804A):c.782A>T:p.Gln261Leu	coding	Benign
2	184938637	C	G	C184938637G	ZNF804A	NM_194250.2(ZNF804A):c.3241C>G:p.Leu1081Val	coding	Benign
2	187352080	T	C	T187352080C	CALCRL	NM_005795.6(CALCRL):c.1128+34A>G	noncoding	Benign
2	187359330	A	G	A187359330G	CALCRL	NM_005795.6(CALCRL):c.782-58T>C	noncoding	Benign
2	188984604	A	G	A188984604G	COL3A1	NM_000090.4(COL3A1):c.80-156A>G	noncoding	Benign
2	188987161	C	T	C188987161T	COL3A1	NM_000090.4(COL3A1):c.528+22C>T	noncoding	Benign
2	188987367	C	A	C188987367A	COL3A1	NM_000090.4(COL3A1):c.528+228C>A	noncoding	Benign
2	188988083	C	A	C188988083A	COL3A1	NM_000090.4(COL3A1):c.531C>A:p.Gly177=	coding	Benign/Likely_benign
2	188988136	T	C	T188988136C	COL3A1	NM_000090.4(COL3A1):c.582+2T>C	noncoding	Pathogenic
2	188989397	G	A	G188989397A	COL3A1	NM_000090.4(COL3A1):c.638G>A:p.Gly213Asp	coding	Pathogenic/Likely_pathogenic
2	188990103	C	G	C188990103G	COL3A1	NM_000090.4(COL3A1):c.698C>G:p.Ser233Ter	coding	Pathogenic
2	188990335	G	C	G188990335C	COL3A1	NM_000090.4(COL3A1):c.773G>C:p.Gly258Ala	coding	Pathogenic/Likely_pathogenic
2	188990440	A	G	A188990440G	COL3A1	NM_000090.4(COL3A1):c.798+80A>G	noncoding	Benign
2	188990541	A	G	A188990541G	COL3A1	NM_000090.4(COL3A1):c.798+181A>G	noncoding	Benign
2	188991022	G	T	G188991022T	COL3A1	NM_000090.4(COL3A1):c.817G>T:p.Gly273Ter	coding	Pathogenic
2	188991217	G	A	G188991217A	COL3A1	NM_000090.4(COL3A1):c.852+160G>A	noncoding	Benign
2	188993267	T	C	T188993267C	COL3A1	NM_000090.4(COL3A1):c.1051-94T>C	noncoding	Benign
2	188994065	G	C	G188994065C	COL3A1	NM_000090.4(COL3A1):c.1177G>C:p.Gly393Arg	coding	Pathogenic
2	188994306	G	A	G188994306A	COL3A1	NM_000090.4(COL3A1):c.1267G>A:p.Gly423Ser	coding	Pathogenic
2	188994540	G	A	G188994540A	COL3A1	NM_000090.4(COL3A1):c.1294-1G>A	noncoding	Pathogenic
2	188994551	G	A	G188994551A	COL3A1	NM_000090.4(COL3A1):c.1304G>A:p.Gly435Asp	coding	Pathogenic
2	188996007	A	G	A188996007G	COL3A1	NM_000090.4(COL3A1):c.1609-118A>G	noncoding	Benign
2	188996270	G	A	G188996270A	COL3A1	NM_000090.4(COL3A1):c.1662+92G>A	noncoding	Benign
2	188996272	A	G	A188996272G	COL3A1	NM_000090.4(COL3A1):c.1662+94A>G	noncoding	Benign
2	188996273	T	C	T188996273C	COL3A1	NM_000090.4(COL3A1):c.1662+95T>C	noncoding	Benign
2	188996274	A	G	A188996274G	COL3A1	NM_000090.4(COL3A1):c.1662+96A>G	noncoding	Benign
2	188996305	T	C	T188996305C	COL3A1	NM_000090.4(COL3A1):c.1663-93T>C	noncoding	Benign
2	188996307	C	T	C188996307T	COL3A1	NM_000090.4(COL3A1):c.1663-91C>T	noncoding	Benign
2	188996497	G	A	G188996497A	COL3A1	NM_000090.4(COL3A1):c.1761+1G>A	coding	Pathogenic
2	188996670	T	A	T188996670A	COL3A1	NM_000090.4(COL3A1):c.1761+174T>A	noncoding	Benign
2	188997165	G	A	G188997165A	COL3A1	NM_000090.4(COL3A1):c.1762G>A:p.Gly588Ser	coding	Pathogenic/Likely_pathogenic
2	188997651	T	C	T188997651C	COL3A1	NM_000090.4(COL3A1):c.1870-49T>C	noncoding	Benign
2	188998735	T	C	T188998735C	COL3A1	NM_000090.4(COL3A1):c.2022+17T>C	noncoding	Benign
2	188999306	G	A	G188999306A	COL3A1	NM_000090.4(COL3A1):c.2044G>A:p.Glu682Lys	coding	Pathogenic
2	188999340	G	T	G188999340T	COL3A1	NM_000090.4(COL3A1):c.2078G>T:p.Gly693Val	coding	Pathogenic
2	188999471	G	C	G188999471C	COL3A1	NM_000090.4(COL3A1):c.2123G>C:p.Gly708Ala	coding	Pathogenic
2	188999842	G	C	G188999842C	COL3A1	NM_000090.4(COL3A1):c.2230G>C:p.Gly744Arg	coding	Pathogenic
2	189002585	T	C	T189002585C	COL3A1	NM_000090.4(COL3A1):c.2445+234T>C	noncoding	Benign
2	189003003	G	T	G189003003T	COL3A1	NM_000090.4(COL3A1):c.2494G>T:p.Glu832Ter	coding	Pathogenic
2	189003009	G	A	G189003009A	COL3A1	NM_000090.4(COL3A1):c.2500G>A:p.Gly834Ser	coding	Pathogenic
2	189003118	T	A	T189003118A	COL3A1	NM_000090.4(COL3A1):c.2553+56T>A	noncoding	Benign
2	189003156	C	T	C189003156T	COL3A1	NM_000090.4(COL3A1):c.2553+94C>T	noncoding	Benign
2	189004009	G	A	G189004009A	COL3A1	NM_000090.4(COL3A1):c.2689G>A:p.Gly897Ser	coding	Pathogenic/Likely_pathogenic
2	189004036	G	A	G189004036A	COL3A1	NM_000090.4(COL3A1):c.2716G>A:p.Gly906Ser	coding	Pathogenic
2	189004373	A	T	A189004373T	COL3A1	NM_000090.4(COL3A1):c.2931+9A>T	noncoding	Benign/Likely_benign
2	189004439	T	A	T189004439A	COL3A1	NM_000090.4(COL3A1):c.2931+75T>A	noncoding	Benign
2	189005404	G	A	G189005404A	COL3A1	NM_000090.4(COL3A1):c.2986G>A:p.Gly996Arg	coding	Pathogenic/Likely_pathogenic
2	189005520	A	C	A189005520C	COL3A1	NM_000090.4(COL3A1):c.3039+63A>C	noncoding	Benign
2	189006206	G	A	G189006206A	COL3A1	NM_000090.4(COL3A1):c.3040G>A:p.Gly1014Arg	coding	Pathogenic/Likely_pathogenic
2	189006409	G	A	G189006409A	COL3A1	NM_000090.4(COL3A1):c.3158G>A:p.Gly1053Asp	coding	Pathogenic/Likely_pathogenic
2	189006417	G	A	G189006417A	COL3A1	NM_000090.4(COL3A1):c.3166G>A:p.Gly1056Ser	coding	Pathogenic/Likely_pathogenic
2	189006749	C	T	C189006749T	COL3A1	NM_000090.4(COL3A1):c.3202-188C>T	noncoding	Benign
2	189007074	G	C	G189007074C	COL3A1	NM_000090.4(COL3A1):c.3255+84G>C	noncoding	Benign
2	189007506	C	T	C189007506T	COL3A1	NM_000090.4(COL3A1):c.3262C>T:p.Gln1088Ter	coding	Pathogenic
2	189010511	T	G	T189010511G	COL3A1	NM_000090.4(COL3A1):c.4012-137T>G	noncoding	Benign
2	189010770	C	G	C189010770G	COL3A1	NM_000090.4(COL3A1):c.4134C>G:p.Tyr1378Ter	coding	Pathogenic
2	189010969	T	G	T189010969G	COL3A1	NM_000090.4(COL3A1):c.4254+79T>G	noncoding	Benign
2	189011412	A	C	A189011412C	COL3A1	NM_000090.4(COL3A1):c.4255-216A>C	noncoding	Benign
2	189011733	C	T	C189011733T	COL3A1	NM_000090.4(COL3A1):c.4360C>T:p.Gln1454Ter	coding	Pathogenic
2	189034847	G	A	G189034847A	COL5A2	NM_000393.5(COL5A2):c.4353+69C>T	noncoding	Benign
2	189035030	G	A	G189035030A	COL5A2	NM_000393.5(COL5A2):c.4239C>T:p.Asp1413=	coding	Benign/Likely_benign
2	189037019	A	C	A189037019C	COL5A2	NM_000393.5(COL5A2):c.3926-216T>G	noncoding	Benign
2	189039687	C	T	C189039687T	COL5A2	NM_000393.5(COL5A2):c.3634-124G>A	noncoding	Benign
2	189039776	A	T	A189039776T	COL5A2	NM_000393.5(COL5A2):c.3634-213T>A	noncoding	Benign
2	189041790	C	T	C189041790T	COL5A2	NM_000393.5(COL5A2):c.3526-97G>A	noncoding	Benign
2	189042513	C	T	C189042513T	COL5A2	NM_000393.5(COL5A2):c.3525+207G>A	noncoding	Benign
2	189042546	T	C	T189042546C	COL5A2	NM_000393.5(COL5A2):c.3525+174A>G	noncoding	Benign
2	189042950	A	G	A189042950G	COL5A2	NM_000393.5(COL5A2):c.3472-177T>C	noncoding	Benign
2	189043211	A	G	A189043211G	COL5A2	NM_000393.5(COL5A2):c.3411T>C:p.Gly1137=	coding	Benign
2	189045249	A	T	A189045249T	COL5A2	NM_000393.5(COL5A2):c.3310-17T>A	noncoding	Benign
2	189045396	G	A	G189045396A	COL5A2	NM_000393.5(COL5A2):c.3310-164C>T	noncoding	Benign
2	189049661	A	G	A189049661G	COL5A2	NM_000393.5(COL5A2):c.3040-207T>C	noncoding	Benign
2	189050554	G	A	G189050554A	COL5A2	NM_000393.5(COL5A2):c.3039+15C>T	noncoding	Benign/Likely_benign
2	189051087	T	C	T189051087C	COL5A2	NM_000393.5(COL5A2):c.2931+233A>G	noncoding	Benign
2	189051309	G	A	G189051309A	COL5A2	NM_000393.5(COL5A2):c.2931+11C>T	noncoding	Benign/Likely_benign
2	189052366	C	T	C189052366T	COL5A2	NM_000393.5(COL5A2):c.2716-141G>A	noncoding	Benign
2	189057443	A	T	A189057443T	COL5A2	NM_000393.5(COL5A2):c.2230-16T>A	noncoding	Benign/Likely_benign
2	189058194	A	T	A189058194T	COL5A2	NM_000393.5(COL5A2):c.2229+235T>A	noncoding	Benign
2	189061502	T	A	T189061502A	COL5A2	NM_000393.5(COL5A2):c.2031+60A>T	noncoding	Benign
2	189061503	A	T	A189061503T	COL5A2	NM_000393.5(COL5A2):c.2031+59T>A	noncoding	Benign
2	189061582	G	A	G189061582A	COL5A2	NM_000393.5(COL5A2):c.2011C>T:p.Pro671Ser	coding	Benign
2	189068105	T	C	T189068105C	COL5A2	NM_000393.5(COL5A2):c.1311A>G:p.Pro437=	coding	Benign
2	189068267	C	T	C189068267T	COL5A2	NM_000393.5(COL5A2):c.1261G>A:p.Ala421Thr	coding	Benign/Likely_benign
2	189068960	G	A	G189068960A	COL5A2	NM_000393.5(COL5A2):c.1159-76C>T	noncoding	Benign
2	189079097	C	T	C189079097T	COL5A2	NM_000393.5(COL5A2):c.971G>A:p.Gly324Asp	coding	Pathogenic
2	189080812	T	C	T189080812C	COL5A2	NM_000393.5(COL5A2):c.906+178A>G	noncoding	Benign
2	189080928	T	G	T189080928G	COL5A2	NM_000393.5(COL5A2):c.906+62A>C	noncoding	Benign
2	189083823	T	C	T189083823C	COL5A2	NM_000393.5(COL5A2):c.852+161A>G	noncoding	Benign
2	189083925	G	T	G189083925T	COL5A2	NM_000393.5(COL5A2):c.852+59C>A	noncoding	Benign
2	189085033	C	T	C189085033T	COL5A2	NM_000393.5(COL5A2):c.798+127G>A	noncoding	Benign
2	189085060	T	A	T189085060A	COL5A2	NM_000393.5(COL5A2):c.798+100A>T	noncoding	Benign
2	189085061	G	T	G189085061T	COL5A2	NM_000393.5(COL5A2):c.798+99C>A	noncoding	Benign
2	189085226	C	T	C189085226T	COL5A2	NM_000393.5(COL5A2):c.745-13G>A	noncoding	Benign/Likely_benign
2	189085343	G	A	G189085343A	COL5A2	NM_000393.5(COL5A2):c.745-130C>T	noncoding	Benign
2	189085830	G	A	G189085830A	COL5A2	NM_000393.5(COL5A2):c.691-58C>T	noncoding	Benign
2	189086557	T	C	T189086557C	COL5A2	NM_000393.5(COL5A2):c.690+169A>G	noncoding	Benign
2	189088825	G	A	G189088825A	COL5A2	NM_000393.5(COL5A2):c.568-53C>T	noncoding	Benign
2	189092128	C	A	C189092128A	COL5A2	NM_000393.5(COL5A2):c.567+182G>T	noncoding	Benign
2	189092293	C	A	C189092293A	COL5A2	NM_000393.5(COL5A2):c.567+17G>T	noncoding	Benign/Likely_benign
2	189097045	C	T	C189097045T	COL5A2	NM_000393.5(COL5A2):c.456+232G>A	noncoding	Benign
2	189097473	A	G	A189097473G	COL5A2	NM_000393.5(COL5A2):c.403-143T>C	noncoding	Benign
2	189100021	G	T	G189100021T	COL5A2	NM_000393.5(COL5A2):c.369+86C>A	noncoding	Benign
2	189100244	T	A	T189100244A	COL5A2	NM_000393.5(COL5A2):c.337-105A>T	noncoding	Benign
2	189100291	G	C	G189100291C	COL5A2	NM_000393.5(COL5A2):c.337-152C>G	noncoding	Benign
2	189110207	G	C	G189110207C	COL5A2	NM_000393.5(COL5A2):c.322+18C>G	noncoding	Benign/Likely_benign
2	189179936	A	G	A189179936G	COL5A2	Single_allele	noncoding	Benign
2	189180039	C	T	C189180039T	COL5A2	Single_allele	noncoding	Benign
2	189565504	C	T	C189565504T	SLC40A1	NM_014585.6(SLC40A1):c.610G>A:p.Gly204Ser	coding	Pathogenic/Likely_pathogenic
2	189565529	A	G	A189565529G	SLC40A1	NM_014585.6(SLC40A1):c.585T>C:p.Ile195=	coding	Benign
2	189571446	A	T	A189571446T	SLC40A1	NM_014585.6(SLC40A1):c.514+269T>A	noncoding	Benign
2	189571879	G	A	G189571879A	SLC40A1	NM_014585.6(SLC40A1):c.388-38C>T	noncoding	Benign
2	189575194	C	T	C189575194T	SLC40A1	NM_014585.6(SLC40A1):c.238G>A:p.Gly80Ser	coding	Pathogenic/Likely_pathogenic
2	189579904	C	G	C189579904G	SLC40A1	NM_014585.6(SLC40A1):c.44-24G>C	noncoding	Benign
2	189580350	T	G	T189580350G	SLC40A1	NM_014585.6(SLC40A1):c.43+68A>C	noncoding	Benign
2	189580961	A	G	A189580961G	SLC40A1	Single_allele	noncoding	Benign
2	189581122	G	A	G189581122A	SLC40A1	Single_allele	noncoding	Benign
2	189783950	A	G	A189783950G	PMS1	NM_016467.5(ORMDL1):c.-118+319T>C	noncoding	Benign
2	189783978	G	C	G189783978C	PMS1	NM_016467.5(ORMDL1):c.-118+291C>G	noncoding	Benign
2	189783989	C	A	C189783989A	PMS1	NM_016467.5(ORMDL1):c.-118+280G>T	noncoding	Benign
2	189784079	G	T	G189784079T	PMS1	NM_016467.5(ORMDL1):c.-118+190C>A	noncoding	Benign/Likely_benign
2	189784312	C	T	C189784312T	PMS1	NM_016467.5(ORMDL1):c.-161G>A	noncoding	Benign
2	189784514	G	T	G189784514T	PMS1	NM_000534.5(PMS1):c.-100G>T	noncoding	Benign
2	189784590	G	C	G189784590C	PMS1	NM_000534.5(PMS1):c.-24G>C	noncoding	Benign
2	189784667	G	A	G189784667A	PMS1	NM_000534.5(PMS1):c.-21+74G>A	noncoding	Benign
2	189784669	T	C	T189784669C	PMS1	NM_000534.5(PMS1):c.-21+76T>C	noncoding	Benign
2	189795957	G	A	G189795957A	PMS1	NM_000534.5(PMS1):c.315+6G>A	noncoding	Benign
2	189817906	G	C	G189817906C	PMS1	NM_000534.5(PMS1):c.419-111G>C	noncoding	Benign
2	189817925	A	G	A189817925G	PMS1	NM_000534.5(PMS1):c.419-92A>G	noncoding	Benign
2	189852632	C	A	C189852632A	PMS1	NM_000534.5(PMS1):c.700-23C>A	noncoding	Benign
2	189852902	T	C	T189852902C	PMS1	NM_000534.5(PMS1):c.822+125T>C	noncoding	Benign
2	189864169	T	C	T189864169C	PMS1	NM_000534.5(PMS1):c.2283T>C:p.Leu761=	coding	Benign/Likely_benign
2	189877446	T	A	T189877446A	PMS1	NM_000534.5(PMS1):c.*10T>A	noncoding	Benign
2	190057766	G	A	G190057766A	MSTN	NM_005259.3(MSTN):c.748-128C>T	noncoding	Benign
2	190060519	T	A	T190060519A	MSTN	NM_005259.3(MSTN):c.374-84A>T	noncoding	Benign
2	190060565	C	T	C190060565T	MSTN	NM_005259.3(MSTN):c.374-130G>A	noncoding	Benign
2	190204963	T	A	T190204963A	HIBCH	NM_014362.4(HIBCH):c.*154A>T	noncoding	Benign
2	190208739	T	C	T190208739C	HIBCH	NM_014362.4(HIBCH):c.1045+141A>G	noncoding	Benign
2	190208775	T	G	T190208775G	HIBCH	NM_014362.4(HIBCH):c.1045+105A>C	noncoding	Benign
2	190208913	T	A	T190208913A	HIBCH	NM_014362.4(HIBCH):c.1012A>T:p.Arg338Ter	coding	Pathogenic
2	190212945	T	A	T190212945A	HIBCH	NM_014362.4(HIBCH):c.1011+11A>T	noncoding	Benign/Likely_benign
2	190213030	G	A	G190213030A	HIBCH	NM_014362.4(HIBCH):c.937C>T:p.Gln313Ter	coding	Pathogenic
2	190213309	A	C	A190213309C	HIBCH	NM_014362.4(HIBCH):c.892-234T>G	noncoding	Benign
2	190244722	G	A	G190244722A	HIBCH	NM_014362.4(HIBCH):c.891+165C>T	noncoding	Benign
2	190244807	C	T	C190244807T	HIBCH	NM_014362.4(HIBCH):c.891+80G>A	noncoding	Benign
2	190245144	C	A	C190245144A	HIBCH	NM_014362.4(HIBCH):c.810-176G>T	noncoding	Benign
2	190246319	A	G	A190246319G	HIBCH	NM_014362.4(HIBCH):c.751-107T>C	noncoding	Benign
2	190249503	T	C	T190249503C	HIBCH	NM_014362.4(HIBCH):c.750+137A>G	noncoding	Benign
2	190249509	G	A	G190249509A	HIBCH	NM_014362.4(HIBCH):c.750+131C>T	noncoding	Benign
2	190249606	T	C	T190249606C	HIBCH	NM_014362.4(HIBCH):c.750+34A>G	noncoding	Benign
2	190252480	G	A	G190252480A	HIBCH	NM_014362.4(HIBCH):c.518-173C>T	noncoding	Benign
2	190261071	A	G	A190261071G	HIBCH	NM_014362.4(HIBCH):c.517+85T>C	noncoding	Benign
2	190294506	A	G	A190294506G	HIBCH	NM_014362.4(HIBCH):c.304+40T>C	noncoding	Benign
2	190297119	C	T	C190297119T	HIBCH	NM_014362.4(HIBCH):c.79-166G>A	noncoding	Benign
2	190974813	C	A	C190974813A	STAT1	NM_007315.4(STAT1):c.2238+17G>T	noncoding	Benign
2	190975250	C	T	C190975250T	STAT1	NM_007315.4(STAT1):c.2136-318G>A	noncoding	Benign
2	190977153	A	G	A190977153G	STAT1	NM_007315.4(STAT1):c.1874-128T>C	noncoding	Benign
2	190979005	G	A	G190979005A	STAT1	NM_007315.4(STAT1):c.1728-4C>T	noncoding	Benign
2	190979104	A	G	A190979104G	STAT1	NM_007315.4(STAT1):c.1728-103T>C	noncoding	Benign
2	190983586	T	C	T190983586C	STAT1	NM_007315.4(STAT1):c.1446+56A>G	noncoding	Benign
2	190983690	G	C	G190983690C	STAT1	NM_007315.4(STAT1):c.1398C>G:p.Ser466Arg	coding	Pathogenic
2	190983690	G	T	G190983690T	STAT1	NM_007315.4(STAT1):c.1398C>A:p.Ser466Arg	coding	Pathogenic
2	190987085	T	C	T190987085C	STAT1	NM_007315.4(STAT1):c.1098-17A>G	noncoding	Benign
2	190987171	G	A	G190987171A	STAT1	NM_007315.4(STAT1):c.1098-103C>T	noncoding	Benign
2	190989697	T	C	T190989697C	STAT1	NM_007315.4(STAT1):c.1038-23A>G	noncoding	Benign
2	190989913	C	A	C190989913A	STAT1	NM_007315.4(STAT1):c.1038-239G>T	noncoding	Benign
2	190994929	T	A	T190994929A	STAT1	NM_007315.4(STAT1):c.944+132A>T	noncoding	Benign
2	190995121	G	T	G190995121T	STAT1	NM_007315.4(STAT1):c.884C>A:p.Thr295Lys	coding	Pathogenic
2	190995142	G	A	G190995142A	STAT1	NM_007315.4(STAT1):c.863C>T:p.Thr288Ile	coding	Pathogenic/Likely_pathogenic
2	190995203	C	A	C190995203A	STAT1	NM_007315.4(STAT1):c.802G>T:p.Glu268Ter	coding	Pathogenic
2	190997672	G	A	G190997672A	STAT1	NM_007315.4(STAT1):c.785+184C>T	noncoding	Benign
2	190998023	G	A	G190998023A	STAT1	NM_007315.4(STAT1):c.634-16C>T	noncoding	Benign
2	190999653	A	G	A190999653G	STAT1	NM_007315.4(STAT1):c.514T>C:p.Phe172Leu	coding	Pathogenic
2	191001165	T	G	T191001165G	STAT1	NM_007315.4(STAT1):c.373-2A>C	noncoding	Pathogenic
2	191007674	G	C	G191007674C	STAT1	NM_007315.4(STAT1):c.274-13C>G	noncoding	Benign
2	191008827	A	T	A191008827T	STAT1	NM_007315.4(STAT1):c.273+136T>A	noncoding	Benign
2	191009591	G	T	G191009591T	STAT1	NM_007315.4(STAT1):c.128+285C>A	noncoding	Benign
2	191010309	C	T	C191010309T	STAT1	NM_007315.4(STAT1):c.-1-305G>A	noncoding	Benign
2	191034536	G	A	G191034536A	STAT4	NM_003151.4(STAT4):c.1620+12C>T	noncoding	Benign
2	191039312	A	G	A191039312G	STAT4	NM_003151.4(STAT4):c.1336-15T>C	noncoding	Benign
2	191062747	T	A	T191062747A	STAT4	NM_003151.4(STAT4):c.941+15A>T	noncoding	Benign
2	191062839	A	G	A191062839G	STAT4	NM_003151.4(STAT4):c.864T>C:p.Tyr288=	coding	Benign
2	191062898	G	T	G191062898T	STAT4	NM_003151.4(STAT4):c.805C>A:p.Leu269Ile	coding	Benign
2	191148063	T	C	T191148063C	STAT4	NM_003151.4(STAT4):c.128+13A>G	noncoding	Benign
2	195960678	T	C	T195960678C	DNAH7	NM_018897.3(DNAH7):c.2473A>G:p.Lys825Glu	coding	Benign
2	196201240	C	A	C196201240A	HECW2	NM_001348768.2(HECW2):c.*37G>T	noncoding	Benign
2	196220114	C	G	C196220114G	HECW2	NM_001348768.2(HECW2):c.4333G>C:p.Glu1445Gln	coding	Pathogenic
2	196242137	G	T	G196242137T	HECW2	NM_001348768.2(HECW2):c.3597C>A:p.Asn1199Lys	coding	Pathogenic/Likely_pathogenic
2	196242162	C	T	C196242162T	HECW2	NM_001348768.2(HECW2):c.3572G>A:p.Arg1191Gln	coding	Pathogenic/Likely_pathogenic
2	196254005	C	T	C196254005T	HECW2	NM_001348768.2(HECW2):c.3444G>A:p.Ser1148=	coding	Benign
2	196306451	C	T	C196306451T	HECW2	NM_001348768.2(HECW2):c.2814+37G>A	noncoding	Benign
2	196306459	C	T	C196306459T	HECW2	NM_001348768.2(HECW2):c.2814+29G>A	noncoding	Benign
2	196308092	G	A	G196308092A	HECW2	NM_001348768.2(HECW2):c.2435-7C>T	noncoding	Benign
2	196318977	A	G	A196318977G	HECW2	NM_001348768.2(HECW2):c.1913T>C:p.Leu638Pro	coding	Benign
2	196319597	C	T	C196319597T	HECW2	NM_001348768.2(HECW2):c.1293G>A:p.Pro431=	coding	Benign
2	196324985	G	A	G196324985A	HECW2	NM_001348768.2(HECW2):c.736C>T:p.Arg246Ter	coding	Pathogenic
2	196343642	C	T	C196343642T	HECW2	NM_001348768.2(HECW2):c.400+15G>A	noncoding	Benign
2	196841029	C	G	C196841029G	PGAP1	NM_024989.4(PGAP1):c.*205G>C	noncoding	Benign
2	196841269	G	A	G196841269A	PGAP1	NM_024989.4(PGAP1):c.2734C>T:p.Pro912Ser	coding	Benign/Likely_benign
2	196842706	A	G	A196842706G	PGAP1	NM_024989.4(PGAP1):c.2630+15T>C	noncoding	Benign
2	196844157	A	G	A196844157G	PGAP1	NM_024989.4(PGAP1):c.2338-82T>C	noncoding	Benign
2	196844585	T	C	T196844585C	PGAP1	NM_024989.4(PGAP1):c.2287-11A>G	noncoding	Benign
2	196845818	A	G	A196845818G	PGAP1	NM_024989.4(PGAP1):c.2286+64T>C	noncoding	Benign
2	196846063	T	C	T196846063C	PGAP1	NM_024989.4(PGAP1):c.2151-46A>G	noncoding	Benign
2	196847382	C	T	C196847382T	PGAP1	NM_024989.4(PGAP1):c.1953-182G>A	noncoding	Benign
2	196847503	A	G	A196847503G	PGAP1	NM_024989.4(PGAP1):c.1953-303T>C	noncoding	Benign
2	196848141	T	C	T196848141C	PGAP1	NM_024989.4(PGAP1):c.1862-104A>G	noncoding	Benign
2	196870991	C	T	C196870991T	PGAP1	NM_024989.4(PGAP1):c.1729-12G>A	noncoding	Benign
2	196872506	G	A	G196872506A	PGAP1	NM_024989.4(PGAP1):c.1663C>T:p.Gln555Ter	coding	Pathogenic
2	196872863	T	G	T196872863G	PGAP1	NM_024989.4(PGAP1):c.1619+97A>C	noncoding	Benign
2	196873109	T	C	T196873109C	PGAP1	NM_024989.4(PGAP1):c.1553-83A>G	noncoding	Benign
2	196873276	T	C	T196873276C	PGAP1	NM_024989.4(PGAP1):c.1553-250A>G	noncoding	Benign
2	196875547	A	T	A196875547T	PGAP1	NM_024989.4(PGAP1):c.1426+199T>A	noncoding	Benign
2	196875837	T	C	T196875837C	PGAP1	NM_024989.4(PGAP1):c.1351-16A>G	noncoding	Benign
2	196880031	T	C	T196880031C	PGAP1	NM_024989.4(PGAP1):c.1350+45A>G	noncoding	Benign
2	196880397	T	C	T196880397C	PGAP1	NM_024989.4(PGAP1):c.1273-244A>G	noncoding	Benign
2	196885318	G	A	G196885318A	PGAP1	NM_024989.4(PGAP1):c.1272+106C>T	noncoding	Benign
2	196885478	T	C	T196885478C	PGAP1	NM_024989.4(PGAP1):c.1221-3A>G	noncoding	Pathogenic
2	196885815	A	G	A196885815G	PGAP1	NM_024989.4(PGAP1):c.1220+19T>C	noncoding	Benign
2	196890571	C	T	C196890571T	PGAP1	NM_024989.4(PGAP1):c.1173+257G>A	noncoding	Benign
2	196891172	C	G	C196891172G	PGAP1	NM_024989.4(PGAP1):c.1090-261G>C	noncoding	Benign
2	196893424	C	T	C196893424T	PGAP1	NM_024989.4(PGAP1):c.928-179G>A	noncoding	Benign
2	196897100	T	C	T196897100C	PGAP1	NM_024989.4(PGAP1):c.927+31A>G	noncoding	Benign
2	196897199	T	C	T196897199C	PGAP1	NM_024989.4(PGAP1):c.861-2A>G	noncoding	Pathogenic
2	196897289	T	C	T196897289C	PGAP1	NM_024989.4(PGAP1):c.861-92A>G	noncoding	Benign
2	196897469	A	G	A196897469G	PGAP1	NM_024989.4(PGAP1):c.861-272T>C	noncoding	Benign
2	196898022	G	A	G196898022A	PGAP1	NM_024989.4(PGAP1):c.860+295C>T	noncoding	Benign
2	196898305	G	T	G196898305T	PGAP1	NM_024989.4(PGAP1):c.860+12C>A	noncoding	Benign/Likely_benign
2	196898526	C	A	C196898526A	PGAP1	NM_024989.4(PGAP1):c.808-157G>T	noncoding	Benign
2	196902701	G	A	G196902701A	PGAP1	NM_024989.4(PGAP1):c.691C>T:p.Arg231Ter	coding	Pathogenic/Likely_pathogenic
2	196912865	C	T	C196912865T	PGAP1	NM_024989.4(PGAP1):c.649+17G>A	noncoding	Benign
2	196912871	A	T	A196912871T	PGAP1	NM_024989.4(PGAP1):c.649+11T>A	noncoding	Benign
2	196913324	G	T	G196913324T	PGAP1	NM_024989.4(PGAP1):c.478-271C>A	noncoding	Benign
2	196926954	A	G	A196926954G	PGAP1	Single_allele	noncoding	Benign
2	197393071	T	C	T197393071C	SF3B1	NM_012433.4(SF3B1):c.3657A>G:p.Val1219=	coding	Benign
2	197400802	A	G	A197400802G	SF3B1	NM_012433.4(SF3B1):c.2631T>C:p.Gly877=	coding	Benign
2	197418581	T	C	T197418581C	SF3B1	NM_012433.4(SF3B1):c.423A>G:p.Lys141=	coding	Benign
2	197487161	G	A	G197487161A	HSPD1	NM_002156.5(HSPD1):c.1607C>T:p.Ala536Val	coding	Pathogenic/Likely_pathogenic
2	197488326	G	C	G197488326C	HSPD1	NM_002156.5(HSPD1):c.1381C>G:p.Gln461Glu	coding	Pathogenic
2	197488545	T	A	T197488545A	HSPD1	NM_002156.5(HSPD1):c.1216-54A>T	noncoding	Benign
2	197490429	T	G	T197490429G	HSPD1	NM_002156.5(HSPD1):c.870-133A>C	noncoding	Benign
2	197499063	A	G	A197499063G	HSPD1	NM_002156.5(HSPD1):c.-2-213T>C	noncoding	Benign
2	197500319	C	G	C197500319G	HSPD1	Single_allele	noncoding	Benign
2	197705380	T	G	T197705380G	MARS2	NM_138395.4(MARS2):c.-26T>G	noncoding	Benign
2	197706102	A	G	A197706102G	MARS2	NM_138395.4(MARS2):c.697A>G:p.Ile233Val	coding	Benign/Likely_benign
2	197706206	G	C	G197706206C	MARS2	NM_138395.4(MARS2):c.801G>C:p.Pro267=	coding	Benign/Likely_benign
2	199272236	G	A	G199272236A	SATB2	NM_001172509.2(SATB2):c.2177C>T:p.Ala726Val	coding	Benign
2	199272365	G	A	G199272365A	SATB2	NM_001172509.2(SATB2):c.2048C>T:p.Ala683Val	coding	Benign
2	199272449	G	A	G199272449A	SATB2	NM_001172509.2(SATB2):c.1964C>T:p.Pro655Leu	coding	Pathogenic/Likely_pathogenic
2	199272489	G	A	G199272489A	SATB2	NM_001172509.2(SATB2):c.1924C>T:p.Gln642Ter	coding	Pathogenic
2	199272569	G	A	G199272569A	SATB2	NM_001172509.2(SATB2):c.1844C>T:p.Pro615Leu	coding	Benign
2	199272637	C	T	C199272637T	SATB2	NM_001172509.2(SATB2):c.1776G>A:p.Glu592=	coding	Benign/Likely_benign
2	199272642	T	G	T199272642G	SATB2	NM_001172509.2(SATB2):c.1771A>C:p.Lys591Gln	coding	Benign
2	199272885	T	C	T199272885C	SATB2	NM_001172509.2(SATB2):c.1741-213A>G	noncoding	Benign
2	199308563	C	T	C199308563T	SATB2	NM_001172509.2(SATB2):c.1740+197G>A	noncoding	Benign
2	199308589	T	C	T199308589C	SATB2	NM_001172509.2(SATB2):c.1740+171A>G	noncoding	Benign
2	199308894	C	A	C199308894A	SATB2	NM_001172509.2(SATB2):c.1606G>T:p.Glu536Ter	coding	Pathogenic
2	199308936	G	A	G199308936A	SATB2	NM_001172509.2(SATB2):c.1564C>T:p.Arg522Cys	coding	Pathogenic
2	199309076	C	T	C199309076T	SATB2	NM_001172509.2(SATB2):c.1543-119G>A	noncoding	Benign
2	199323508	C	T	C199323508T	SATB2	NM_001172509.2(SATB2):c.1542+295G>A	noncoding	Benign
2	199323900	T	C	T199323900C	SATB2	NM_001172509.2(SATB2):c.1445A>G:p.Asn482Ser	coding	Benign
2	199328679	C	T	C199328679T	SATB2	NM_001172509.2(SATB2):c.1386+19G>A	noncoding	Benign
2	199328680	G	A	G199328680A	SATB2	NM_001172509.2(SATB2):c.1386+18C>T	noncoding	Benign
2	199328827	C	T	C199328827T	SATB2	NM_001172509.2(SATB2):c.1257G>A:p.Gln419=	coding	Benign/Likely_benign
2	199328910	C	G	C199328910G	SATB2	NM_001172509.2(SATB2):c.1174G>C:p.Gly392Arg	coding	Pathogenic/Likely_pathogenic
2	199328910	C	T	C199328910T	SATB2	NM_001172509.2(SATB2):c.1174G>A:p.Gly392Arg	coding	Pathogenic
2	199348400	C	G	C199348400G	SATB2	NM_001172509.2(SATB2):c.1173+301G>C	noncoding	Benign
2	199348441	C	G	C199348441G	SATB2	NM_001172509.2(SATB2):c.1173+260G>C	noncoding	Benign
2	199348708	C	A	C199348708A	SATB2	NM_001172509.2(SATB2):c.1166G>T:p.Arg389Leu	coding	Pathogenic
2	199348708	C	T	C199348708T	SATB2	NM_001172509.2(SATB2):c.1166G>A:p.Arg389His	coding	Pathogenic
2	199348739	G	A	G199348739A	SATB2	NM_001172509.2(SATB2):c.1135C>T:p.Gln379Ter	coding	Pathogenic
2	199348803	G	A	G199348803A	SATB2	NM_001172509.2(SATB2):c.1071C>T:p.Ser357=	coding	Benign/Likely_benign
2	199349071	T	C	T199349071C	SATB2	NM_001172509.2(SATB2):c.803A>G:p.Asn268Ser	coding	Benign
2	199349103	A	C	A199349103C	SATB2	NM_001172509.2(SATB2):c.771T>G:p.Asn257Lys	coding	Benign
2	199349122	C	T	C199349122T	SATB2	NM_001172509.2(SATB2):c.752G>A:p.Arg251His	coding	Benign
2	199349185	T	G	T199349185G	SATB2	NM_001172509.2(SATB2):c.701-12A>C	noncoding	Benign
2	199368653	T	A	T199368653A	SATB2	NM_001172509.2(SATB2):c.652A>T:p.Lys218Ter	coding	Pathogenic
2	199380194	A	G	A199380194G	SATB2	NM_001172509.2(SATB2):c.597+170T>C	noncoding	Benign
2	199380393	T	A	T199380393A	SATB2	NM_001172509.2(SATB2):c.568A>T:p.Thr190Ser	coding	Benign
2	199380452	C	T	C199380452T	SATB2	NM_001172509.2(SATB2):c.509G>A:p.Trp170Ter	coding	Pathogenic
2	199380522	C	G	C199380522G	SATB2	NM_001172509.2(SATB2):c.474-35G>C	noncoding	Benign
2	199381595	C	T	C199381595T	SATB2	NM_001172509.2(SATB2):c.473+99G>A	noncoding	Benign
2	199382020	T	C	T199382020C	SATB2	NM_001172509.2(SATB2):c.347-200A>G	noncoding	Benign
2	199433337	C	T	C199433337T	SATB2	NM_001172509.2(SATB2):c.346+1G>A	noncoding	Pathogenic
2	199433590	A	G	A199433590G	SATB2	NM_001172509.2(SATB2):c.170-76T>C	noncoding	Benign
2	199455858	C	A	C199455858A	SATB2	NM_001172509.2(SATB2):c.169+11G>T	noncoding	Benign
2	199455887	C	T	C199455887T	SATB2	NM_001172509.2(SATB2):c.151G>A:p.Val51Met	coding	Benign
2	199455917	T	C	T199455917C	SATB2	NM_001172509.2(SATB2):c.121A>G:p.Met41Val	coding	Benign
2	199456327	G	A	G199456327A	SATB2	NM_001172509.2(SATB2):c.-59-231C>T	noncoding	Benign
2	199925657	G	A	G199925657A	C2orf69	NM_153689.6(C2orf69):c.929G>A:p.Trp310Ter	coding	Pathogenic
2	201078574	A	G	A201078574G	NDUFB3	NM_002491.3(NDUFB3):c.-2-307A>G	noncoding	Benign
2	201183400	C	T	C201183400T	CASP10	NM_032977.4(CASP10):c.-8+92C>T	noncoding	Benign
2	201185430	G	A	G201185430A	CASP10	NM_032977.4(CASP10):c.-7-341G>A	noncoding	Benign
2	201187567	C	A	C201187567A	CASP10	NM_032977.4(CASP10):c.348-139C>A	noncoding	Benign
2	201187894	A	C	A201187894C	CASP10	NM_032977.4(CASP10):c.441+95A>C	noncoding	Benign
2	201187894	A	G	A201187894G	CASP10	NM_032977.4(CASP10):c.441+95A>G	noncoding	Benign
2	201188020	A	C	A201188020C	CASP10	NM_032977.4(CASP10):c.441+221A>C	noncoding	Benign
2	201188031	C	T	C201188031T	CASP10	NM_032977.4(CASP10):c.441+232C>T	noncoding	Benign
2	201193382	A	G	A201193382G	CASP10	NM_032977.4(CASP10):c.577+263A>G	noncoding	Benign
2	201196097	C	T	C201196097T	CASP10	NM_032977.4(CASP10):c.684+149C>T	noncoding	Benign
2	201203710	C	T	C201203710T	CASP10	NM_032977.4(CASP10):c.685-20C>T	noncoding	Benign
2	201205866	G	T	G201205866T	CASP10	NM_032977.4(CASP10):c.722-16G>T	noncoding	Benign
2	201206012	A	T	A201206012T	CASP10	NM_032977.4(CASP10):c.813+39A>T	noncoding	Benign
2	201206112	G	A	G201206112A	CASP10	NM_032977.4(CASP10):c.813+139G>A	noncoding	Benign
2	201208426	C	T	C201208426T	CASP10	NM_032977.4(CASP10):c.922+243C>T	noncoding	Benign
2	201209578	T	C	T201209578C	CASP10	NM_032977.4(CASP10):c.1415+16T>C	noncoding	Benign
2	201209580	T	A	T201209580A	CASP10	NM_032977.4(CASP10):c.1415+18T>A	noncoding	Benign/Likely_benign
2	201209805	A	G	A201209805G	CASP10	NM_032977.4(CASP10):c.1415+243A>G	noncoding	Benign
2	201228628	A	G	A201228628G	CASP10	NM_032974.5(CASP10):c.1416-305A>G	noncoding	Benign
2	201228672	T	C	T201228672C	CASP10	NM_032974.5(CASP10):c.1416-261T>C	noncoding	Benign
2	201257992	T	G	T201257992G	CASP8	NM_001228.4(CASP8):c.-26-8469T>G	noncoding	Benign
2	201266864	T	G	T201266864G	CASP8	NM_001372051.1(CASP8):c.305+73T>G	noncoding	Benign
2	201269421	G	T	G201269421T	CASP8	NM_001372051.1(CASP8):c.306-2095G>T	noncoding	Benign
2	201271872	C	T	C201271872T	CASP8	NM_001372051.1(CASP8):c.411+251C>T	noncoding	Benign
2	201271906	A	C	A201271906C	CASP8	NM_001372051.1(CASP8):c.411+285A>C	noncoding	Benign
2	201275215	G	C	G201275215C	CASP8	NM_001372051.1(CASP8):c.660+262G>C	noncoding	Benign
2	201277115	T	C	T201277115C	CASP8	NM_001372051.1(CASP8):c.802+147T>C	noncoding	Benign
2	201284892	T	A	T201284892A	CASP8	NM_001372051.1(CASP8):c.879T>A:p.Tyr293Ter	coding	Pathogenic
2	201286191	A	G	A201286191G	CASP8	NM_001372051.1(CASP8):c.1305-268A>G	noncoding	Benign
2	201286417	T	G	T201286417G	CASP8	NM_001372051.1(CASP8):c.1305-42T>G	noncoding	Benign
2	201286440	A	G	A201286440G	CASP8	NM_001372051.1(CASP8):c.1305-19A>G	noncoding	Benign
2	201603256	T	C	T201603256C	C2CD6	NM_001168221.2(C2CD6):c.338A>G:p.His113Arg	coding	Pathogenic
2	201624386	T	C	T201624386C	TMEM237	NM_001044385.3(TMEM237):c.1160-64A>G	noncoding	Benign
2	201624492	A	G	A201624492G	TMEM237	NM_001044385.3(TMEM237):c.1160-170T>C	noncoding	Benign
2	201628129	G	C	G201628129C	TMEM237	NM_001044385.3(TMEM237):c.890C>G:p.Ser297Ter	coding	Pathogenic
2	201629229	C	T	C201629229T	TMEM237	NM_001044385.3(TMEM237):c.869+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	201629867	C	T	C201629867T	TMEM237	NM_001044385.3(TMEM237):c.554-15G>A	noncoding	Benign/Likely_benign
2	201631766	G	T	G201631766T	TMEM237	NM_001044385.3(TMEM237):c.553+285C>A	noncoding	Benign
2	201632222	G	A	G201632222A	TMEM237	NM_001044385.3(TMEM237):c.396-14C>T	noncoding	Benign/Likely_benign
2	201632432	C	T	C201632432T	TMEM237	NM_001044385.3(TMEM237):c.396-224G>A	noncoding	Benign
2	201633381	G	A	G201633381A	TMEM237	NM_001044385.3(TMEM237):c.325C>T:p.Arg109Ter	coding	Pathogenic
2	201633392	G	C	G201633392C	TMEM237	NM_001044385.3(TMEM237):c.314C>G:p.Ser105Ter	coding	Pathogenic
2	201633428	A	T	A201633428T	TMEM237	NM_001044385.3(TMEM237):c.278T>A:p.Leu93Ter	coding	Pathogenic
2	201636737	T	C	T201636737C	TMEM237	NM_001044385.3(TMEM237):c.274+11A>G	noncoding	Benign/Likely_benign
2	201636847	G	A	G201636847A	TMEM237	NM_001044385.3(TMEM237):c.175C>T:p.Arg59Ter	coding	Pathogenic
2	201639056	A	G	A201639056G	TMEM237	NM_001044385.3(TMEM237):c.80-11T>C	noncoding	Benign/Likely_benign
2	201640034	T	C	T201640034C	TMEM237	NM_001044385.3(TMEM237):c.79+227A>G	noncoding	Benign
2	201640992	C	A	C201640992A	TMEM237	NM_001044385.3(TMEM237):c.43-68G>T	noncoding	Benign
2	201642391	T	C	T201642391C	TMEM237	NM_001044385.3(TMEM237):c.42+968A>G	noncoding	Benign
2	201642509	G	C	G201642509C	TMEM237	NM_001044385.3(TMEM237):c.42+850C>G	noncoding	Benign
2	201643259	T	C	T201643259C	TMEM237	NM_001044385.3(TMEM237):c.42+100A>G	noncoding	Benign
2	201643281	C	G	C201643281G	TMEM237	NM_001044385.3(TMEM237):c.42+78G>C	noncoding	Benign
2	201643368	C	T	C201643368T	TMEM237	NM_001044385.3(TMEM237):c.33G>A:p.Glu11=	coding	Benign
2	201643603	C	T	C201643603T	TMEM237	Single_allele	noncoding	Benign
2	201702018	T	C	T201702018C	ALS2	NM_020919.4(ALS2):c.4936-129A>G	noncoding	Benign
2	201702041	C	T	C201702041T	ALS2	NM_020919.4(ALS2):c.4936-152G>A	noncoding	Benign
2	201703841	A	G	A201703841G	ALS2	NM_020919.4(ALS2):c.4935+281T>C	noncoding	Benign
2	201704931	C	A	C201704931A	ALS2	NM_020919.4(ALS2):c.4688+208G>T	noncoding	Benign
2	201705269	A	T	A201705269T	ALS2	NM_020919.4(ALS2):c.4627-69T>A	noncoding	Benign
2	201706898	G	A	G201706898A	ALS2	NM_020919.4(ALS2):c.4528C>T:p.Arg1510Ter	coding	Pathogenic
2	201707040	G	A	G201707040A	ALS2	NM_020919.4(ALS2):c.4404-18C>T	noncoding	Benign
2	201708083	C	G	C201708083G	ALS2	NM_020919.4(ALS2):c.4281-92G>C	noncoding	Benign
2	201708187	G	A	G201708187A	ALS2	NM_020919.4(ALS2):c.4281-196C>T	noncoding	Benign
2	201708202	C	T	C201708202T	ALS2	NM_020919.4(ALS2):c.4281-211G>A	noncoding	Benign
2	201708317	C	G	C201708317G	ALS2	NM_020919.4(ALS2):c.4281-326G>C	noncoding	Benign
2	201709865	T	C	T201709865C	ALS2	NM_020919.4(ALS2):c.4280+16A>G	noncoding	Benign
2	201709891	G	A	G201709891A	ALS2	NM_020919.4(ALS2):c.4270C>T:p.Gln1424Ter	coding	Pathogenic
2	201709938	A	T	A201709938T	ALS2	NM_020919.4(ALS2):c.4223T>A:p.Leu1408Ter	coding	Pathogenic
2	201709955	T	C	T201709955C	ALS2	NM_020919.4(ALS2):c.4206A>G:p.Gly1402_Ala1403=	coding	Benign
2	201710058	A	G	A201710058G	ALS2	NM_020919.4(ALS2):c.4123-20T>C	noncoding	Benign
2	201710102	C	T	C201710102T	ALS2	NM_020919.4(ALS2):c.4123-64G>A	noncoding	Benign
2	201711184	A	G	A201711184G	ALS2	NM_020919.4(ALS2):c.4005-76T>C	noncoding	Benign
2	201711219	C	T	C201711219T	ALS2	NM_020919.4(ALS2):c.4005-111G>A	noncoding	Benign
2	201711242	C	A	C201711242A	ALS2	NM_020919.4(ALS2):c.4005-134G>T	noncoding	Benign
2	201715545	T	C	T201715545C	ALS2	NM_020919.4(ALS2):c.4004+127A>G	noncoding	Benign
2	201722860	C	A	C201722860A	ALS2	NM_020919.4(ALS2):c.3702+183G>T	noncoding	Benign
2	201722863	T	C	T201722863C	ALS2	NM_020919.4(ALS2):c.3702+180A>G	noncoding	Benign
2	201722930	C	T	C201722930T	ALS2	NM_020919.4(ALS2):c.3702+113G>A	noncoding	Benign
2	201723442	C	T	C201723442T	ALS2	NM_020919.4(ALS2):c.3513-1G>A	coding	Pathogenic
2	201723527	C	T	C201723527T	ALS2	NM_020919.4(ALS2):c.3513-86G>A	noncoding	Benign
2	201723607	T	C	T201723607C	ALS2	NM_020919.4(ALS2):c.3513-166A>G	noncoding	Benign
2	201724534	T	C	T201724534C	ALS2	NM_020919.4(ALS2):c.3348-75A>G	noncoding	Benign
2	201724772	T	C	T201724772C	ALS2	NM_020919.4(ALS2):c.3348-313A>G	noncoding	Benign
2	201725108	A	G	A201725108G	ALS2	NM_020919.4(ALS2):c.3347+248T>C	noncoding	Benign
2	201726511	C	T	C201726511T	ALS2	NM_020919.4(ALS2):c.3221G>A:p.Gly1074Asp	coding	Pathogenic
2	201726892	A	T	A201726892T	ALS2	NM_020919.4(ALS2):c.2980-26T>A	noncoding	Benign
2	201727336	G	A	G201727336A	ALS2	NM_020919.4(ALS2):c.2913-58C>T	noncoding	Benign
2	201727795	G	A	G201727795A	ALS2	NM_020919.4(ALS2):c.2842-20C>T	noncoding	Benign/Likely_benign
2	201728642	T	G	T201728642G	ALS2	NM_020919.4(ALS2):c.2713-2A>C	noncoding	Pathogenic
2	201728736	A	G	A201728736G	ALS2	NM_020919.4(ALS2):c.2713-96T>C	noncoding	Benign
2	201729316	A	G	A201729316G	ALS2	NM_020919.4(ALS2):c.2581-133T>C	noncoding	Benign
2	201729457	A	G	A201729457G	ALS2	NM_020919.4(ALS2):c.2581-274T>C	noncoding	Benign
2	201729474	A	G	A201729474G	ALS2	NM_020919.4(ALS2):c.2581-291T>C	noncoding	Benign
2	201733274	A	G	A201733274G	ALS2	NM_020919.4(ALS2):c.2580+2T>C	noncoding	Pathogenic
2	201738424	A	G	A201738424G	ALS2	NM_020919.4(ALS2):c.2417+246T>C	noncoding	Benign
2	201738669	C	G	C201738669G	ALS2	NM_020919.4(ALS2):c.2417+1G>C	noncoding	Pathogenic
2	201741470	C	T	C201741470T	ALS2	NM_020919.4(ALS2):c.2351+204G>A	noncoding	Benign
2	201741867	A	G	A201741867G	ALS2	NM_020919.4(ALS2):c.2171-13T>C	noncoding	Benign
2	201741916	G	A	G201741916A	ALS2	NM_020919.4(ALS2):c.2171-62C>T	noncoding	Benign
2	201742141	G	A	G201742141A	ALS2	NM_020919.4(ALS2):c.2171-287C>T	noncoding	Benign
2	201744154	C	A	C201744154A	ALS2	NM_020919.4(ALS2):c.2170+104G>T	noncoding	Benign
2	201744642	G	A	G201744642A	ALS2	NM_020919.4(ALS2):c.1999-213C>T	noncoding	Benign
2	201746261	T	C	T201746261C	ALS2	NM_020919.4(ALS2):c.1998+305A>G	noncoding	Benign
2	201746372	T	C	T201746372C	ALS2	NM_020919.4(ALS2):c.1998+194A>G	noncoding	Benign
2	201746758	C	A	C201746758A	ALS2	NM_020919.4(ALS2):c.1816-10G>T	noncoding	Benign/Likely_benign
2	201749496	G	C	G201749496C	ALS2	NM_020919.4(ALS2):c.1815+216C>G	noncoding	Benign
2	201749909	T	G	T201749909G	ALS2	NM_020919.4(ALS2):c.1738-120A>C	noncoding	Benign
2	201754502	C	T	C201754502T	ALS2	NM_020919.4(ALS2):c.1640+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	201754689	G	A	G201754689A	ALS2	NM_020919.4(ALS2):c.1472-18C>T	noncoding	Benign
2	201757715	G	T	G201757715T	ALS2	NM_020919.4(ALS2):c.1158C>A:p.Thr386=	coding	Benign
2	201760679	A	C	A201760679C	ALS2	NM_020919.4(ALS2):c.1113+202T>G	coding	Benign
2	201761459	G	A	G201761459A	ALS2	NM_020919.4(ALS2):c.535C>T:p.Gln179Ter	coding	Pathogenic/Likely_pathogenic
2	201761647	C	T	C201761647T	ALS2	NM_020919.4(ALS2):c.347G>A:p.Gly116Glu	coding	Pathogenic
2	201761694	G	A	G201761694A	ALS2	NM_020919.4(ALS2):c.300C>T:p.Ser100=	coding	Benign
2	201761837	A	T	A201761837T	ALS2	NM_020919.4(ALS2):c.176-19T>A	noncoding	Benign
2	201761902	A	C	A201761902C	ALS2	NM_020919.4(ALS2):c.176-84T>G	noncoding	Benign
2	201767588	C	T	C201767588T	ALS2	NM_020919.4(ALS2):c.21-205G>A	noncoding	Benign
2	201768947	T	C	T201768947C	ALS2	NM_020919.4(ALS2):c.-60-2A>G	noncoding	Pathogenic/Likely_pathogenic
2	201769263	G	A	G201769263A	ALS2	NM_020919.4(ALS2):c.-60-318C>T	noncoding	Benign
2	202214584	T	C	T202214584C	SUMO1	NM_003352.8(SUMO1):c.88-150A>G	noncoding	Benign
2	202220266	G	C	G202220266C	SUMO1	NM_003352.8(SUMO1):c.13-160C>G	noncoding	Benign
2	202238189	A	G	A202238189G	SUMO1	NM_003352.8(SUMO1):c.12+251T>C	noncoding	Benign
2	202238678	G	A	G202238678A	SUMO1	Single_allele	noncoding	Benign
2	202376806	G	A	G202376806A	BMPR2	NM_001204.7(BMPR2):c.-669G>A	noncoding	Benign/Likely_benign
2	202377531	G	A	G202377531A	BMPR2	NM_001204.7(BMPR2):c.57G>A:p.Leu19=	coding	Benign/Likely_benign
2	202464879	T	G	T202464879G	BMPR2	NM_001204.7(BMPR2):c.147T>G:p.Ser49Arg	coding	Benign
2	202464897	T	C	T202464897C	BMPR2	NM_001204.7(BMPR2):c.165T>C:p.Asn55=	coding	Benign
2	202467744	A	G	A202467744G	BMPR2	NM_001204.7(BMPR2):c.418+55A>G	noncoding	Benign
2	202467771	G	A	G202467771A	BMPR2	NM_001204.7(BMPR2):c.418+82G>A	noncoding	Benign
2	202467901	A	C	A202467901C	BMPR2	NM_001204.7(BMPR2):c.418+212A>C	noncoding	Benign
2	202513893	C	T	C202513893T	BMPR2	NM_001204.7(BMPR2):c.529+64C>T	noncoding	Benign
2	202514667	G	A	G202514667A	BMPR2	NM_001204.7(BMPR2):c.530-221G>A	noncoding	Benign
2	202514886	A	G	A202514886G	BMPR2	NM_001204.7(BMPR2):c.530-2A>G	noncoding	Pathogenic
2	202514968	A	T	A202514968T	BMPR2	NM_001204.7(BMPR2):c.610A>T:p.Lys204Ter	coding	Pathogenic
2	202519989	C	G	C202519989G	BMPR2	NM_001204.7(BMPR2):c.853-98C>G	noncoding	Benign
2	202520128	G	A	G202520128A	BMPR2	NM_001204.7(BMPR2):c.894G>A:p.Trp298Ter	coding	Pathogenic
2	202530928	G	T	G202530928T	BMPR2	NM_001204.7(BMPR2):c.1102G>T:p.Glu368Ter	coding	Pathogenic
2	202532349	G	T	G202532349T	BMPR2	NM_001204.7(BMPR2):c.1129-236G>T	noncoding	Benign
2	202542132	A	C	A202542132C	BMPR2	NM_001204.7(BMPR2):c.1277-179A>C	noncoding	Benign
2	202542765	C	T	C202542765T	BMPR2	NM_001204.7(BMPR2):c.1413+318C>T	noncoding	Benign
2	202553060	T	A	T202553060A	BMPR2	NM_001204.7(BMPR2):c.1586+172T>A	noncoding	Benign
2	202553178	A	G	A202553178G	BMPR2	NM_001204.7(BMPR2):c.1586+290A>G	noncoding	Benign
2	202555381	G	A	G202555381A	BMPR2	NM_001204.7(BMPR2):c.1716G>A:p.Met572Ile	coding	Benign
2	202555540	C	T	C202555540T	BMPR2	NM_001204.7(BMPR2):c.1875C>T:p.Gly625=	coding	Benign
2	202555805	G	T	G202555805T	BMPR2	NM_001204.7(BMPR2):c.2140G>T:p.Ala714Ser	coding	Benign
2	202556044	A	C	A202556044C	BMPR2	NM_001204.7(BMPR2):c.2379A>C:p.Thr793=	coding	Benign/Likely_benign
2	202556195	C	T	C202556195T	BMPR2	NM_001204.7(BMPR2):c.2530C>T:p.Gln844Ter	coding	Pathogenic
2	202984001	G	A	G202984001A	CARF	NM_024744.17(CARF):c.*377G>A	noncoding	Benign
2	203866796	C	T	C203866796T	CTLA4	NC_000002.11:g.204731519C>T	noncoding	Benign
2	203867500	T	A	T203867500A	CTLA4	Single_allele	noncoding	Benign
2	203867624	C	T	C203867624T	CTLA4	NC_000002.11:g.204732347C>T	noncoding	Benign
2	203868127	A	G	A203868127G	CTLA4	NM_005214.5(CTLA4):c.109+76A>G	noncoding	Benign
2	203870702	C	T	C203870702T	CTLA4	NM_005214.5(CTLA4):c.226C>T:p.Gln76Ter	coding	Pathogenic
2	203870714	C	T	C203870714T	CTLA4	NM_005214.5(CTLA4):c.238C>T:p.Gln80Ter	coding	Pathogenic
2	203870912	G	A	G203870912A	CTLA4	NM_005214.5(CTLA4):c.436G>A:p.Gly146Arg	coding	Pathogenic/Likely_pathogenic
2	203871087	G	T	G203871087T	CTLA4	NM_005214.5(CTLA4):c.457+154G>T	noncoding	Benign
2	203873187	G	A	G203873187A	CTLA4	NM_005214.5(CTLA4):c.*375G>A	noncoding	Benign
2	203874196	G	A	G203874196A	CTLA4	NM_005214.5(CTLA4):c.*1148+236G>A	noncoding	Benign
2	203937045	T	C	T203937045C	ICOS	NM_012092.4(ICOS):c.58+173T>C	noncoding	Benign
2	203955638	G	T	G203955638T	ICOS	NM_012092.4(ICOS):c.61G>T:p.Glu21Ter	coding	Pathogenic
2	203955895	T	G	T203955895G	ICOS	NM_012092.4(ICOS):c.318T>G:p.Tyr106Ter	coding	Pathogenic
2	203956356	G	T	G203956356T	ICOS	NM_012092.4(ICOS):c.395-303G>T	noncoding	Benign
2	203956882	C	T	C203956882T	ICOS	NM_012092.4(ICOS):c.501+117C>T	noncoding	Benign
2	203956891	C	G	C203956891G	ICOS	NM_012092.4(ICOS):c.501+126C>G	noncoding	Benign
2	203957542	A	G	A203957542G	ICOS	NM_012092.4(ICOS):c.502-257A>G	noncoding	Benign
2	203957571	C	T	C203957571T	ICOS	NM_012092.4(ICOS):c.502-228C>T	noncoding	Benign
2	203957686	C	T	C203957686T	ICOS	NM_012092.4(ICOS):c.502-113C>T	noncoding	Benign
2	203959477	T	C	T203959477C	ICOS	NM_012092.4(ICOS):c.587-109T>C	noncoding	Benign
2	203959560	T	G	T203959560G	ICOS	NM_012092.4(ICOS):c.587-26T>G	noncoding	Benign
2	206123929	G	A	G206123929A	NDUFS1	NM_005006.7(NDUFS1):c.*256C>T	noncoding	Benign/Likely_benign
2	206126390	T	A	T206126390A	NDUFS1	NM_005006.7(NDUFS1):c.2092+149A>T	noncoding	Benign
2	206127647	G	A	G206127647A	NDUFS1	NM_005006.7(NDUFS1):c.1884+150C>T	noncoding	Benign
2	206130286	A	G	A206130286G	NDUFS1	NM_005006.7(NDUFS1):c.1554-44T>C	noncoding	Benign
2	206132921	A	G	A206132921G	NDUFS1	NM_005006.7(NDUFS1):c.1553+24T>C	noncoding	Benign
2	206141924	T	C	T206141924C	NDUFS1	NM_005006.7(NDUFS1):c.1262+17A>G	noncoding	Benign/Likely_benign
2	206142101	C	A	C206142101A	NDUFS1	NM_005006.7(NDUFS1):c.1134-32G>T	noncoding	Benign
2	206142922	C	G	C206142922G	NDUFS1	NM_005006.7(NDUFS1):c.988-91G>C	noncoding	Benign
2	206144637	A	G	A206144637G	NDUFS1	NM_005006.7(NDUFS1):c.872+255T>C	noncoding	Benign
2	206145183	C	T	C206145183T	NDUFS1	NM_005006.7(NDUFS1):c.738-157G>A	noncoding	Benign
2	206146671	A	G	A206146671G	NDUFS1	NM_005006.7(NDUFS1):c.737+232T>C	noncoding	Benign
2	206147294	T	C	T206147294C	NDUFS1	NM_005006.7(NDUFS1):c.552-206A>G	noncoding	Benign
2	206147310	A	G	A206147310G	NDUFS1	NM_005006.7(NDUFS1):c.551+221T>C	noncoding	Benign
2	206150081	C	A	C206150081A	NDUFS1	NM_005006.7(NDUFS1):c.154-156G>T	noncoding	Benign
2	206150144	G	A	G206150144A	NDUFS1	NM_005006.7(NDUFS1):c.154-219C>T	noncoding	Benign
2	206152269	C	A	C206152269A	NDUFS1	NM_005006.7(NDUFS1):c.153+150G>T	noncoding	Benign
2	206153933	T	C	T206153933C	NDUFS1	NM_005006.7(NDUFS1):c.-4-251A>G	noncoding	Benign
2	206159204	C	T	C206159204T	NDUFS1	NM_005006.7(NDUFS1):c.-5+137G>A	noncoding	Benign
2	206160060	G	C	G206160060C	EEF1B2	NM_001959.4(EEF1B2):c.80+1G>C	coding	Pathogenic
2	206176329	T	C	T206176329C	CMKLR2	NM_001389445.1(CMKLR2):c.919A>G:p.Ile307Val	coding	Benign
2	206305007	G	A	G206305007A	ZDBF2	NM_020923.3(ZDBF2):c.479G>A:p.Arg160Lys	coding	Benign
2	206305302	T	C	T206305302C	ZDBF2	NM_020923.3(ZDBF2):c.774T>C:p.Asn258=	coding	Benign
2	206305518	T	C	T206305518C	ZDBF2	NM_020923.3(ZDBF2):c.990T>C:p.His330=	coding	Benign
2	206307903	A	G	A206307903G	ZDBF2	NM_020923.3(ZDBF2):c.3375A>G:p.Gln1125=	coding	Benign
2	206308666	G	A	G206308666A	ZDBF2	NM_020923.3(ZDBF2):c.4138G>A:p.Glu1380Lys	coding	Benign
2	206309592	T	C	T206309592C	ZDBF2	NM_020923.3(ZDBF2):c.5064T>C:p.Ser1688=	coding	Benign
2	206309714	G	A	G206309714A	ZDBF2	NM_020923.3(ZDBF2):c.5186G>A:p.Arg1729His	coding	Benign
2	206309835	A	G	A206309835G	ZDBF2	NM_020923.3(ZDBF2):c.5307A>G:p.Lys1769=	coding	Benign
2	206310346	G	A	G206310346A	ZDBF2	NM_020923.3(ZDBF2):c.5818G>A:p.Ala1940Thr	coding	Benign
2	206765369	C	A	C206765369A	FASTKD2	Single_allele	noncoding	Benign
2	206770193	A	C	A206770193C	FASTKD2	NM_001136193.2(FASTKD2):c.880A>C:p.Arg294=	coding	Benign
2	206771046	C	T	C206771046T	FASTKD2	NM_001136193.2(FASTKD2):c.882-136C>T	noncoding	Benign
2	206771181	G	A	G206771181A	FASTKD2	NM_001136193.2(FASTKD2):c.882-1G>A	noncoding	Pathogenic
2	206771206	G	A	G206771206A	FASTKD2	NM_001136193.2(FASTKD2):c.906G>A:p.Trp302Ter	coding	Pathogenic
2	206771794	C	T	C206771794T	FASTKD2	NM_001136193.2(FASTKD2):c.991-100C>T	noncoding	Benign
2	206774164	A	T	A206774164T	FASTKD2	NM_001136193.2(FASTKD2):c.1255-61A>T	noncoding	Benign
2	206788929	G	A	G206788929A	FASTKD2	NM_001136193.2(FASTKD2):c.1898+26G>A	noncoding	Benign
2	206790497	C	T	C206790497T	FASTKD2	NM_001136193.2(FASTKD2):c.1899-75C>T	noncoding	Benign
2	206791352	A	T	A206791352T	FASTKD2	NM_001136193.2(FASTKD2):c.2014-331A>T	noncoding	Benign
2	207767267	G	A	G207767267A	FZD5	NM_003468.4(FZD5):c.1473C>T:p.Thr491=	coding	Benign
2	207767369	G	A	G207767369A	FZD5	NM_003468.4(FZD5):c.1371C>T:p.Tyr457=	coding	Benign
2	207768093	G	A	G207768093A	FZD5	NM_003468.4(FZD5):c.647C>T:p.Pro216Leu	coding	Benign
2	207768689	T	C	T207768689C	FZD5	NM_003468.4(FZD5):c.51A>G:p.Leu17=	coding	Benign
2	208122114	C	A	C208122114A	CRYGD	NM_006891.4(CRYGD):c.253-169G>T	noncoding	Benign
2	208122115	A	G	A208122115G	CRYGD	NM_006891.4(CRYGD):c.253-170T>C	noncoding	Benign
2	208122211	A	G	A208122211G	CRYGD	NM_006891.4(CRYGD):c.253-266T>C	noncoding	Benign
2	208123795	C	T	C208123795T	CRYGD	NM_006891.4(CRYGD):c.252+317G>A	noncoding	Benign
2	208124320	C	T	C208124320T	CRYGD	NM_006891.4(CRYGD):c.44G>A:p.Arg15His	coding	Benign
2	208124828	T	C	T208124828C	CRYGD	Single_allele	noncoding	Benign
2	208124857	G	A	G208124857A	CRYGD	Single_allele	noncoding	Benign
2	208128047	G	A	G208128047A	CRYGC	Single_allele	noncoding	Benign
2	208128364	G	A	G208128364A	CRYGC	NM_020989.4(CRYGC):c.364C>T:p.Arg122Cys	coding	Benign
2	208129106	A	G	A208129106G	CRYGC	NM_020989.4(CRYGC):c.252+335T>C	noncoding	Benign
2	208129321	T	G	T208129321G	CRYGC	NM_020989.4(CRYGC):c.252+120A>C	noncoding	Benign
2	208129660	G	A	G208129660A	CRYGC	NM_020989.4(CRYGC):c.33C>T:p.Ala11=	coding	Benign
2	208129697	A	G	A208129697G	CRYGC	NM_020989.4(CRYGC):c.10-14T>C	noncoding	Benign
2	208129973	C	T	C208129973T	CRYGC	Single_allele	noncoding	Benign
2	208130125	T	C	T208130125C	CRYGC	Single_allele	noncoding	Benign
2	208143062	A	G	A208143062G	CRYGB	NM_005210.4(CRYGB):c.253-149T>C	noncoding	Benign
2	208143069	A	G	A208143069G	CRYGB	NM_005210.4(CRYGB):c.253-156T>C	noncoding	Benign
2	208146099	A	T	A208146099T	CRYGB	NM_005210.4(CRYGB):c.9+13T>A	noncoding	Benign
2	208146100	C	T	C208146100T	CRYGB	NM_005210.4(CRYGB):c.9+12G>A	noncoding	Benign
2	208146101	C	T	C208146101T	CRYGB	NM_005210.4(CRYGB):c.9+11G>A	noncoding	Benign
2	208146148	G	T	G208146148T	CRYGB	NM_005210.4(CRYGB):c.-28C>A	noncoding	Benign
2	208146167	G	A	G208146167A	CRYGB	NC_000002.11:g.209010891G>A	noncoding	Benign
2	208146290	G	T	G208146290T	CRYGB	Single_allele	noncoding	Benign
2	208146403	T	C	T208146403C	CRYGB	Single_allele	noncoding	Benign
2	208238771	G	A	G208238771A	IDH1	NM_005896.4(IDH1):c.1154+300C>T	noncoding	Benign
2	208239506	A	G	A208239506G	IDH1	NM_005896.4(IDH1):c.992-273T>C	noncoding	Benign
2	208242386	G	T	G208242386T	IDH1	NM_005896.4(IDH1):c.699-241C>A	noncoding	Benign
2	208245662	T	C	T208245662C	IDH1	NM_005896.4(IDH1):c.415-238A>G	noncoding	Benign
2	208304129	C	T	C208304129T	PIKFYVE	NM_015040.4(PIKFYVE):c.1321-42C>T	noncoding	Benign
2	208324923	C	T	C208324923T	PIKFYVE	NM_015040.4(PIKFYVE):c.2344C>T:p.Arg782Ter	coding	Pathogenic
2	208336191	G	A	G208336191A	PIKFYVE	NM_015040.4(PIKFYVE):c.4511G>A:p.Trp1504Ter	coding	Pathogenic
2	208350724	A	G	A208350724G	PIKFYVE	NM_015040.4(PIKFYVE):c.5435-47A>G	noncoding	Benign
2	209772130	C	T	C209772130T	UNC80	NM_001371986.1(UNC80):c.58C>T:p.Leu20=	coding	Benign
2	209776033	C	T	C209776033T	UNC80	NM_001371986.1(UNC80):c.286C>T:p.Arg96Ter	coding	Pathogenic
2	209776056	C	G	C209776056G	UNC80	NM_001371986.1(UNC80):c.298+11C>G	noncoding	Benign
2	209777368	C	T	C209777368T	UNC80	NM_001371986.1(UNC80):c.409C>T:p.Arg137Ter	coding	Pathogenic
2	209777570	A	T	A209777570T	UNC80	NM_001371986.1(UNC80):c.600+11A>T	noncoding	Benign
2	209815277	C	T	C209815277T	UNC80	NM_001371986.1(UNC80):c.1221C>T:p.Asn407=	coding	Benign
2	209816924	G	T	G209816924T	UNC80	NM_001371986.1(UNC80):c.1351G>T:p.Glu451Ter	coding	Pathogenic
2	209816930	C	T	C209816930T	UNC80	NM_001371986.1(UNC80):c.1357C>T:p.Arg453Ter	coding	Pathogenic
2	209817086	C	T	C209817086T	UNC80	NM_001371986.1(UNC80):c.1513C>T:p.Arg505Ter	coding	Pathogenic/Likely_pathogenic
2	209818995	C	T	C209818995T	UNC80	NM_001371986.1(UNC80):c.1696C>T:p.Arg566Ter	coding	Pathogenic
2	209819157	C	T	C209819157T	UNC80	NM_001371986.1(UNC80):c.1858C>T:p.Arg620Ter	coding	Pathogenic
2	209820376	G	A	G209820376A	UNC80	NM_001371986.1(UNC80):c.2028G>A:p.Ala676=	coding	Benign
2	209820643	C	T	C209820643T	UNC80	NM_001371986.1(UNC80):c.2295C>T:p.Gly765=	coding	Benign
2	209820680	G	T	G209820680T	UNC80	NM_001371986.1(UNC80):c.2331+1G>T	coding	Pathogenic
2	209825896	G	C	G209825896C	UNC80	NM_001371986.1(UNC80):c.2332-11G>C	noncoding	Benign
2	209825900	G	T	G209825900T	UNC80	NM_001371986.1(UNC80):c.2332-7G>T	noncoding	Benign
2	209826045	C	T	C209826045T	UNC80	NM_001371986.1(UNC80):c.2470C>T:p.Arg824Ter	coding	Pathogenic
2	209831426	G	A	G209831426A	UNC80	NM_001371986.1(UNC80):c.2627-17G>A	noncoding	Benign
2	209831608	T	A	T209831608A	UNC80	NM_001371986.1(UNC80):c.2775+17T>A	noncoding	Benign
2	209834061	C	T	C209834061T	UNC80	NM_001371986.1(UNC80):c.2835C>T:p.Val945=	coding	Benign
2	209834140	C	T	C209834140T	UNC80	NM_001371986.1(UNC80):c.2914C>T:p.Gln972Ter	coding	Pathogenic
2	209839221	G	T	G209839221T	UNC80	NM_001371986.1(UNC80):c.3042-1G>T	noncoding	Pathogenic
2	209839285	C	A	C209839285A	UNC80	NM_001371986.1(UNC80):c.3105C>A:p.Ser1035=	coding	Benign
2	209839370	C	T	C209839370T	UNC80	NM_001371986.1(UNC80):c.3190C>T:p.Arg1064Ter	coding	Pathogenic
2	209839476	C	A	C209839476A	UNC80	NM_001371986.1(UNC80):c.3250+46C>A	noncoding	Benign
2	209840529	A	C	A209840529C	UNC80	NM_001371986.1(UNC80):c.3251-13A>C	noncoding	Benign
2	209840624	C	G	C209840624G	UNC80	NM_001371986.1(UNC80):c.3333C>G:p.Leu1111=	coding	Benign
2	209842364	T	G	T209842364G	UNC80	NM_001371986.1(UNC80):c.3372T>G:p.Ser1124Arg	coding	Benign
2	209849438	A	G	A209849438G	UNC80	NM_001371986.1(UNC80):c.3455-13A>G	noncoding	Benign
2	209849640	A	C	A209849640C	UNC80	NM_001371986.1(UNC80):c.3627+17A>C	noncoding	Benign
2	209880957	C	A	C209880957A	UNC80	NM_001371986.1(UNC80):c.3977-4C>A	noncoding	Benign
2	209881047	C	T	C209881047T	UNC80	NM_001371986.1(UNC80):c.4063C>T:p.Arg1355Ter	coding	Pathogenic
2	209896429	A	C	A209896429C	UNC80	NM_001371986.1(UNC80):c.4581+16A>C	noncoding	Benign
2	209904861	C	T	C209904861T	UNC80	NM_001371986.1(UNC80):c.4678C>T:p.Arg1560Ter	coding	Pathogenic
2	209912623	G	T	G209912623T	UNC80	NM_001371986.1(UNC80):c.4846G>T:p.Glu1616Ter	coding	Pathogenic
2	209921632	C	T	C209921632T	UNC80	NM_001371986.1(UNC80):c.5476C>T:p.Gln1826Ter	coding	Pathogenic
2	209937610	C	T	C209937610T	UNC80	NM_001371986.1(UNC80):c.6445C>T:p.Gln2149Ter	coding	Pathogenic
2	209939633	A	C	A209939633C	UNC80	NM_001371986.1(UNC80):c.6627A>C:p.Ser2209=	coding	Benign
2	209941332	T	C	T209941332C	UNC80	NM_001371986.1(UNC80):c.6758T>C:p.Met2253Thr	coding	Benign
2	209943440	C	T	C209943440T	UNC80	NM_001371986.1(UNC80):c.6976C>T:p.Gln2326Ter	coding	Pathogenic
2	209945875	A	G	A209945875G	UNC80	NM_001371986.1(UNC80):c.7218A>G:p.Thr2406=	coding	Benign
2	209945920	G	A	G209945920A	UNC80	NM_001371986.1(UNC80):c.7263G>A:p.Ala2421=	coding	Benign
2	209954247	G	A	G209954247A	UNC80	NM_001371986.1(UNC80):c.7434G>A:p.Leu2478=	coding	Benign
2	209957629	C	T	C209957629T	UNC80	NM_001371986.1(UNC80):c.7458-15C>T	noncoding	Benign
2	209959547	C	T	C209959547T	UNC80	NM_001371986.1(UNC80):c.7645C>T:p.Arg2549Ter	coding	Pathogenic
2	209969769	C	T	C209969769T	UNC80	NM_001371986.1(UNC80):c.8008C>T:p.Arg2670Ter	coding	Pathogenic
2	209973286	C	T	C209973286T	UNC80	NM_001371986.1(UNC80):c.8587+16C>T	noncoding	Benign
2	209976964	A	G	A209976964G	UNC80	NM_001371986.1(UNC80):c.8824A>G:p.Ile2942Val	coding	Benign
2	209978659	G	A	G209978659A	UNC80	NM_001371986.1(UNC80):c.9069G>A:p.Gln3023=	coding	Benign
2	209982143	A	G	A209982143G	UNC80	NM_001371986.1(UNC80):c.9119-36A>G	noncoding	Benign
2	209993311	T	C	T209993311C	UNC80	NM_001371986.1(UNC80):c.9397-4T>C	noncoding	Benign
2	209993422	G	A	G209993422A	UNC80	NM_001371986.1(UNC80):c.9504G>A:p.Pro3168=	coding	Benign
2	209994076	C	T	C209994076T	UNC80	NM_001371986.1(UNC80):c.9520C>T:p.Arg3174Ter	coding	Pathogenic
2	210294124	T	A	T210294124A	MYL1	NM_079420.3(MYL1):c.478+121A>T	noncoding	Benign
2	210294131	T	C	T210294131C	MYL1	NM_079420.3(MYL1):c.478+114A>G	noncoding	Benign
2	210298274	G	A	G210298274A	MYL1	NM_079420.3(MYL1):c.304+146C>T	noncoding	Benign
2	210302408	A	T	A210302408T	MYL1	NM_079420.3(MYL1):c.160+80T>A	noncoding	Benign
2	210302991	C	T	C210302991T	MYL1	NM_079420.3(MYL1):c.133-476G>A	noncoding	Benign
2	210303478	A	G	A210303478G	MYL1	NM_079420.3(MYL1):c.133-963T>C	noncoding	Benign
2	210303622	A	C	A210303622C	MYL1	NM_079420.3(MYL1):c.133-1107T>G	noncoding	Benign
2	210315011	A	G	A210315011G	MYL1	NM_079420.3(MYL1):c.32T>C:p.Val11Ala	coding	Benign
2	210315181	C	T	C210315181T	MYL1	Single_allele	noncoding	Benign
2	210556398	C	A	C210556398A	CPS1	NM_001122633.3(CPS1):c.-15-321C>A	noncoding	Benign
2	210556540	G	A	G210556540A	CPS1	NM_001122633.3(CPS1):c.-15-179G>A	noncoding	Benign
2	210556983	G	A	G210556983A	CPS1	NM_001875.5(CPS1):c.126+124G>A	noncoding	Benign
2	210573200	G	T	G210573200T	CPS1	NM_001875.5(CPS1):c.127-98G>T	noncoding	Benign
2	210573205	T	A	T210573205A	CPS1	NM_001875.5(CPS1):c.127-93T>A	noncoding	Benign
2	210573366	C	T	C210573366T	CPS1	NM_001875.5(CPS1):c.195C>T:p.Ser65=	coding	Benign/Likely_benign
2	210576255	C	T	C210576255T	CPS1	NM_001875.5(CPS1):c.237-91C>T	noncoding	Benign
2	210576507	C	T	C210576507T	CPS1	NM_001875.5(CPS1):c.381+17C>T	noncoding	Benign/Likely_benign
2	210576702	C	T	C210576702T	CPS1	NM_001875.5(CPS1):c.381+212C>T	noncoding	Benign
2	210577459	C	A	C210577459A	CPS1	NM_001875.5(CPS1):c.420C>A:p.Tyr140Ter	coding	Pathogenic
2	210577582	C	T	C210577582T	CPS1	NM_001875.5(CPS1):c.471+72C>T	noncoding	Benign
2	210582606	T	A	T210582606A	CPS1	NM_001875.5(CPS1):c.529-11T>A	noncoding	Benign
2	210590090	T	C	T210590090C	CPS1	NM_001875.5(CPS1):c.712-16T>C	noncoding	Benign/Likely_benign
2	210590106	C	T	C210590106T	CPS1	NM_001875.5(CPS1):c.712C>T:p.Arg238Ter	coding	Pathogenic/Likely_pathogenic
2	210590126	A	G	A210590126G	CPS1	NM_001875.5(CPS1):c.732A>G:p.Leu244=	coding	Benign
2	210590234	G	C	G210590234C	CPS1	NM_001875.5(CPS1):c.840G>C:p.Lys280Asn	coding	Pathogenic
2	210590557	A	G	A210590557G	CPS1	NM_001875.5(CPS1):c.841-243A>G	noncoding	Benign
2	210591229	A	G	A210591229G	CPS1	NM_001875.5(CPS1):c.947+323A>G	noncoding	Benign
2	210592958	T	C	T210592958C	CPS1	NM_001875.5(CPS1):c.1164+2T>C	noncoding	Pathogenic
2	210593055	A	G	A210593055G	CPS1	NM_001875.5(CPS1):c.1164+99A>G	noncoding	Benign
2	210593182	G	T	G210593182T	CPS1	NM_001875.5(CPS1):c.1164+226G>T	noncoding	Benign
2	210594381	C	A	C210594381A	CPS1	NM_001875.5(CPS1):c.1165-127C>A	noncoding	Benign
2	210599075	C	A	C210599075A	CPS1	NM_001875.5(CPS1):c.1360-297C>A	noncoding	Benign
2	210599142	G	A	G210599142A	CPS1	NM_001875.5(CPS1):c.1360-230G>A	noncoding	Benign
2	210599262	G	A	G210599262A	CPS1	NM_001875.5(CPS1):c.1360-110G>A	noncoding	Benign
2	210599382	T	G	T210599382G	CPS1	NM_001875.5(CPS1):c.1370T>G:p.Val457Gly	coding	Pathogenic
2	210599444	C	T	C210599444T	CPS1	NM_001875.5(CPS1):c.1432C>T:p.Gln478Ter	coding	Pathogenic
2	210599480	C	T	C210599480T	CPS1	NM_001875.5(CPS1):c.1468C>T:p.Gln490Ter	coding	Pathogenic
2	210599562	G	T	G210599562T	CPS1	NM_001875.5(CPS1):c.1549+1G>T	coding	Pathogenic
2	210599825	A	G	A210599825G	CPS1	NM_001875.5(CPS1):c.1549+264A>G	noncoding	Benign
2	210599829	C	T	C210599829T	CPS1	NM_001875.5(CPS1):c.1549+268C>T	noncoding	Benign
2	210600389	G	A	G210600389A	CPS1	NM_001875.5(CPS1):c.1550-166G>A	noncoding	Benign
2	210602104	C	G	C210602104G	CPS1	NM_001875.5(CPS1):c.1708-98C>G	noncoding	Benign
2	210602105	A	T	A210602105T	CPS1	NM_001875.5(CPS1):c.1708-97A>T	noncoding	Benign
2	210602254	G	A	G210602254A	CPS1	NM_001875.5(CPS1):c.1760G>A:p.Arg587His	coding	Pathogenic/Likely_pathogenic
2	210602264	T	G	T210602264G	CPS1	NM_001875.5(CPS1):c.1770T>G:p.Tyr590Ter	coding	Pathogenic
2	210605453	G	A	G210605453A	CPS1	NM_001875.5(CPS1):c.1981+207G>A	noncoding	Benign
2	210605472	T	C	T210605472C	CPS1	NM_001875.5(CPS1):c.1981+226T>C	noncoding	Benign
2	210606800	C	G	C210606800G	CPS1	NM_001875.5(CPS1):c.2051C>G:p.Ser684Ter	coding	Pathogenic
2	210606889	G	T	G210606889T	CPS1	NM_001875.5(CPS1):c.2140G>T:p.Glu714Ter	coding	Pathogenic/Likely_pathogenic
2	210608161	G	A	G210608161A	CPS1	NM_001875.5(CPS1):c.2193-200G>A	noncoding	Benign
2	210608507	G	A	G210608507A	CPS1	NM_001875.5(CPS1):c.2339G>A:p.Arg780His	coding	Pathogenic/Likely_pathogenic
2	210612494	A	G	A210612494G	CPS1	NM_001875.5(CPS1):c.2568+201A>G	noncoding	Benign
2	210637407	G	A	G210637407A	CPS1	NM_001875.5(CPS1):c.2688-295G>A	noncoding	Benign
2	210637690	A	T	A210637690T	CPS1	NM_001875.5(CPS1):c.2688-12A>T	noncoding	Benign
2	210637833	G	A	G210637833A	CPS1	NM_001875.5(CPS1):c.2819G>A:p.Trp940Ter	coding	Pathogenic
2	210639012	C	T	C210639012T	CPS1	NM_001875.5(CPS1):c.2830-138C>T	noncoding	Benign
2	210639740	A	G	A210639740G	CPS1	NM_001875.5(CPS1):c.2896-256A>G	noncoding	Benign
2	210647713	G	A	G210647713A	CPS1	NM_001875.5(CPS1):c.3142-150G>A	noncoding	Benign
2	210647744	G	C	G210647744C	CPS1	NM_001875.5(CPS1):c.3142-119G>C	noncoding	Benign
2	210648028	C	T	C210648028T	CPS1	NM_001875.5(CPS1):c.3307C>T:p.Gln1103Ter	coding	Pathogenic
2	210648394	C	T	C210648394T	CPS1	NM_001875.5(CPS1):c.3337-79C>T	noncoding	Benign
2	210648516	T	A	T210648516A	CPS1	NM_001875.5(CPS1):c.3380T>A:p.Leu1127Ter	coding	Pathogenic
2	210648824	C	T	C210648824T	CPS1	NM_001875.5(CPS1):c.3404+284C>T	noncoding	Benign
2	210650271	G	T	G210650271T	CPS1	NM_001875.5(CPS1):c.3405-92G>T	noncoding	Benign
2	210654064	C	T	C210654064T	CPS1	NM_001875.5(CPS1):c.3520C>T:p.Arg1174Ter	coding	Pathogenic
2	210654308	A	C	A210654308C	CPS1	NM_001875.5(CPS1):c.3558+206A>C	noncoding	Benign
2	210656633	G	T	G210656633T	CPS1	NM_001875.5(CPS1):c.3666+1G>T	coding	Pathogenic
2	210656954	G	C	G210656954C	CPS1	NM_001875.5(CPS1):c.3666+322G>C	noncoding	Benign
2	210660491	G	T	G210660491T	CPS1	NM_001875.5(CPS1):c.3763G>T:p.Glu1255Ter	coding	Pathogenic
2	210660671	A	G	A210660671G	CPS1	NM_001875.5(CPS1):c.3927+16A>G	noncoding	Benign
2	210660696	A	G	A210660696G	CPS1	NM_001875.5(CPS1):c.3927+41A>G	noncoding	Benign
2	210660860	C	T	C210660860T	CPS1	NM_001875.5(CPS1):c.3927+205C>T	noncoding	Benign
2	210663106	T	G	T210663106G	CPS1	NM_001875.5(CPS1):c.3928-17T>G	noncoding	Benign/Likely_benign
2	210663108	T	C	T210663108C	CPS1	NM_001875.5(CPS1):c.3928-15T>C	noncoding	Benign/Likely_benign
2	210663148	T	A	T210663148A	CPS1	NM_001875.5(CPS1):c.3953T>A:p.Leu1318Ter	coding	Pathogenic
2	210667979	C	T	C210667979T	CPS1	NM_001875.5(CPS1):c.4003-207C>T	noncoding	Benign
2	210668286	T	C	T210668286C	CPS1	NM_001875.5(CPS1):c.4101+2T>C	noncoding	Pathogenic/Likely_pathogenic
2	210668346	A	G	A210668346G	CPS1	NM_001875.5(CPS1):c.4101+62A>G	noncoding	Benign
2	210674560	G	A	G210674560A	CPS1	NM_001875.5(CPS1):c.4102-342G>A	noncoding	Benign
2	210674639	A	G	A210674639G	CPS1	NM_001875.5(CPS1):c.4102-263A>G	noncoding	Benign
2	210674959	A	T	A210674959T	CPS1	NM_001875.5(CPS1):c.4159A>T:p.Lys1387Ter	coding	Pathogenic
2	210675757	G	A	G210675757A	CPS1	NM_001875.5(CPS1):c.4191G>A:p.Trp1397Ter	coding	Pathogenic
2	210677005	A	C	A210677005C	CPS1	NM_001875.5(CPS1):c.4275-2A>C	noncoding	Pathogenic
2	210677755	A	T	A210677755T	CPS1	NM_001875.5(CPS1):c.4405-132A>T	noncoding	Benign
2	210677801	A	G	A210677801G	CPS1	NM_001875.5(CPS1):c.4405-86A>G	noncoding	Benign
2	211380227	G	A	G211380227A	ERBB4	NM_005235.3(ERBB4):c.*3388C>T	noncoding	Benign
2	211386604	G	A	G211386604A	ERBB4	NM_005235.3(ERBB4):c.3481+249C>T	noncoding	Benign
2	211387139	T	C	T211387139C	ERBB4	NM_005235.3(ERBB4):c.3195A>G:p.Val1065=	coding	Benign
2	211387442	C	T	C211387442T	ERBB4	NM_005235.3(ERBB4):c.3184-292G>A	noncoding	Benign
2	211388084	G	A	G211388084A	ERBB4	NM_005235.3(ERBB4):c.3136-92C>T	noncoding	Benign
2	211388178	T	C	T211388178C	ERBB4	NM_005235.3(ERBB4):c.3136-186A>G	noncoding	Benign
2	211388230	C	T	C211388230T	ERBB4	NM_005235.3(ERBB4):c.3136-238G>A	noncoding	Benign
2	211388299	G	C	G211388299C	ERBB4	NM_005235.3(ERBB4):c.3136-307C>G	noncoding	Benign
2	211420378	T	C	T211420378C	ERBB4	NM_005235.3(ERBB4):c.3135+63A>G	noncoding	Benign
2	211420421	T	G	T211420421G	ERBB4	NM_005235.3(ERBB4):c.3135+20A>C	noncoding	Benign
2	211421957	G	C	G211421957C	ERBB4	NM_005235.3(ERBB4):c.2964+50C>G	noncoding	Benign
2	211422209	A	T	A211422209T	ERBB4	NM_005235.3(ERBB4):c.2867-105T>A	noncoding	Benign
2	211422344	T	C	T211422344C	ERBB4	NM_005235.3(ERBB4):c.2867-240A>G	noncoding	Benign
2	211428204	G	C	G211428204C	ERBB4	NM_005235.3(ERBB4):c.2719+204C>G	noncoding	Benign
2	211428394	G	A	G211428394A	ERBB4	NM_005235.3(ERBB4):c.2719+14C>T	noncoding	Benign
2	211430753	A	G	A211430753G	ERBB4	NM_005235.3(ERBB4):c.2643+192T>C	noncoding	Benign
2	211431110	A	G	A211431110G	ERBB4	NM_005235.3(ERBB4):c.2488-10T>C	noncoding	Benign
2	211431150	C	T	C211431150T	ERBB4	NM_005235.3(ERBB4):c.2488-50G>A	noncoding	Benign
2	211431369	G	C	G211431369C	ERBB4	NM_005235.3(ERBB4):c.2488-269C>G	noncoding	Benign
2	211561741	A	C	A211561741C	ERBB4	NM_005235.3(ERBB4):c.2487+162T>G	noncoding	Benign
2	211561863	C	T	C211561863T	ERBB4	NM_005235.3(ERBB4):c.2487+40G>A	noncoding	Benign
2	211562325	T	C	T211562325C	ERBB4	NM_005235.3(ERBB4):c.2302-237A>G	noncoding	Benign
2	211619063	A	G	A211619063G	ERBB4	NM_005235.3(ERBB4):c.2301+114T>C	noncoding	Benign
2	211623906	G	A	G211623906A	ERBB4	NM_005235.3(ERBB4):c.2202+16C>T	noncoding	Benign
2	211623907	T	C	T211623907C	ERBB4	NM_005235.3(ERBB4):c.2202+15A>G	noncoding	Benign
2	211630591	A	T	A211630591T	ERBB4	NM_005235.3(ERBB4):c.1950T>A:p.Thr650=	coding	Benign
2	211630610	A	G	A211630610G	ERBB4	NM_005235.3(ERBB4):c.1947-16T>C	noncoding	Benign
2	211657671	T	C	T211657671C	ERBB4	NM_005235.3(ERBB4):c.1946+83A>G	noncoding	Benign
2	211657926	A	G	A211657926G	ERBB4	NM_005235.3(ERBB4):c.1872-98T>C	noncoding	Benign
2	211665263	G	A	G211665263A	ERBB4	NM_005235.3(ERBB4):c.1871+60C>T	noncoding	Benign
2	211665492	C	T	C211665492T	ERBB4	NM_005235.3(ERBB4):c.1717-15G>A	noncoding	Benign
2	211665741	C	T	C211665741T	ERBB4	NM_005235.3(ERBB4):c.1717-264G>A	noncoding	Benign
2	211665789	T	C	T211665789C	ERBB4	NM_005235.3(ERBB4):c.1717-312A>G	noncoding	Benign
2	211673269	T	A	T211673269A	ERBB4	NM_005235.3(ERBB4):c.1623-12A>T	noncoding	Benign
2	211678763	G	A	G211678763A	ERBB4	NM_005235.3(ERBB4):c.1622+289C>T	noncoding	Benign
2	211678785	T	C	T211678785C	ERBB4	NM_005235.3(ERBB4):c.1622+267A>G	noncoding	Benign
2	211678828	A	G	A211678828G	ERBB4	NM_005235.3(ERBB4):c.1622+224T>C	noncoding	Benign
2	211678835	C	T	C211678835T	ERBB4	NM_005235.3(ERBB4):c.1622+217G>A	noncoding	Benign
2	211678847	A	G	A211678847G	ERBB4	NM_005235.3(ERBB4):c.1622+205T>C	noncoding	Benign
2	211678860	G	T	G211678860T	ERBB4	NM_005235.3(ERBB4):c.1622+192C>A	noncoding	Benign
2	211679199	A	G	A211679199G	ERBB4	NM_005235.3(ERBB4):c.1490-15T>C	noncoding	Benign
2	211679299	G	A	G211679299A	ERBB4	NM_005235.3(ERBB4):c.1490-115C>T	noncoding	Benign
2	211679355	T	C	T211679355C	ERBB4	NM_005235.3(ERBB4):c.1490-171A>G	noncoding	Benign
2	211679468	T	C	T211679468C	ERBB4	NM_005235.3(ERBB4):c.1490-284A>G	noncoding	Benign
2	211701825	T	C	T211701825C	ERBB4	NM_005235.3(ERBB4):c.1489+142A>G	noncoding	Benign
2	211705103	C	T	C211705103T	ERBB4	NM_005235.3(ERBB4):c.1198+215G>A	noncoding	Benign
2	211705154	T	C	T211705154C	ERBB4	NM_005235.3(ERBB4):c.1198+164A>G	noncoding	Benign
2	211705258	G	A	G211705258A	ERBB4	NM_005235.3(ERBB4):c.1198+60C>T	noncoding	Benign
2	211705269	A	T	A211705269T	ERBB4	NM_005235.3(ERBB4):c.1198+49T>A	noncoding	Benign
2	211705691	C	T	C211705691T	ERBB4	NM_005235.3(ERBB4):c.1125-300G>A	noncoding	Benign
2	211712255	T	C	T211712255C	ERBB4	NM_005235.3(ERBB4):c.998-79A>G	noncoding	Benign
2	211712432	A	G	A211712432G	ERBB4	NM_005235.3(ERBB4):c.998-256T>C	noncoding	Benign
2	211712506	T	C	T211712506C	ERBB4	NM_005235.3(ERBB4):c.998-330A>G	noncoding	Benign
2	211713794	A	T	A211713794T	ERBB4	NM_005235.3(ERBB4):c.884-146T>A	noncoding	Benign
2	211722245	C	A	C211722245A	ERBB4	NM_005235.3(ERBB4):c.883+148G>T	noncoding	Benign
2	211722439	G	A	G211722439A	ERBB4	NM_005235.3(ERBB4):c.837C>T:p.Phe279=	coding	Benign
2	211722596	G	A	G211722596A	ERBB4	NM_005235.3(ERBB4):c.742-62C>T	noncoding	Benign
2	211725169	T	C	T211725169C	ERBB4	NM_005235.3(ERBB4):c.648A>G:p.Gln216=	coding	Benign
2	211725261	T	C	T211725261C	ERBB4	NM_005235.3(ERBB4):c.623-67A>G	noncoding	Benign
2	211725533	C	A	C211725533A	ERBB4	NM_005235.3(ERBB4):c.623-339G>T	noncoding	Benign
2	211740557	G	A	G211740557A	ERBB4	NM_005235.3(ERBB4):c.622+10082C>T	noncoding	Benign
2	211750617	G	A	G211750617A	ERBB4	NM_005235.3(ERBB4):c.622+22C>T	noncoding	Benign
2	211750791	T	C	T211750791C	ERBB4	NM_005235.3(ERBB4):c.557-87A>G	noncoding	Benign
2	211947335	T	C	T211947335C	ERBB4	NM_005235.3(ERBB4):c.421+95A>G	noncoding	Benign
2	211947372	T	C	T211947372C	ERBB4	NM_005235.3(ERBB4):c.421+58A>G	noncoding	Benign
2	211947515	C	T	C211947515T	ERBB4	NM_005235.3(ERBB4):c.336G>A:p.Glu112=	coding	Benign
2	211947701	A	T	A211947701T	ERBB4	NM_005235.3(ERBB4):c.235-85T>A	noncoding	Benign
2	211947815	G	A	G211947815A	ERBB4	NM_005235.3(ERBB4):c.235-199C>T	noncoding	Benign
2	212124583	T	C	T212124583C	ERBB4	NM_005235.3(ERBB4):c.234+169A>G	noncoding	Benign
2	212124685	G	C	G212124685C	ERBB4	NM_005235.3(ERBB4):c.234+67C>G	noncoding	Benign
2	212124833	C	T	C212124833T	ERBB4	NM_005235.3(ERBB4):c.153G>A:p.Lys51=	coding	Benign
2	212432139	T	C	T212432139C	ERBB4	NM_005235.3(ERBB4):c.82+106310A>G	noncoding	Benign
2	212528301	G	A	G212528301A	ERBB4	NM_005235.3(ERBB4):c.82+10148C>T	noncoding	Benign
2	212538367	G	A	G212538367A	ERBB4	NM_005235.3(ERBB4):c.82+82C>T	noncoding	Benign
2	214728509	T	C	T214728509C	BARD1	NM_000465.4(BARD1):c.*167A>G	noncoding	Benign
2	214728757	C	A	C214728757A	BARD1	NM_000465.4(BARD1):c.2253G>T:p.Arg751=	coding	Benign/Likely_benign
2	214728838	C	A	C214728838A	BARD1	NM_000465.4(BARD1):c.2172G>T:p.Ala724=	coding	Benign/Likely_benign
2	214730345	T	G	T214730345G	BARD1	NM_000465.4(BARD1):c.2001+66A>C	noncoding	Benign
2	214730716	T	A	T214730716A	BARD1	NM_000465.4(BARD1):c.1904-208A>T	noncoding	Benign
2	214730721	C	A	C214730721A	BARD1	NM_000465.4(BARD1):c.1904-213G>T	noncoding	Benign
2	214730788	C	T	C214730788T	BARD1	NM_000465.4(BARD1):c.1904-280G>A	noncoding	Benign
2	214744969	G	A	G214744969A	BARD1	NM_000465.4(BARD1):c.1903+98C>T	noncoding	Benign
2	214745070	C	A	C214745070A	BARD1	NM_000465.4(BARD1):c.1900G>T:p.Glu634Ter	coding	Pathogenic
2	214745117	A	T	A214745117T	BARD1	NM_000465.4(BARD1):c.1853T>A:p.Leu618Ter	coding	Pathogenic
2	214745228	A	G	A214745228G	BARD1	NM_000465.4(BARD1):c.1811-69T>C	noncoding	Benign
2	214745236	T	C	T214745236C	BARD1	NM_000465.4(BARD1):c.1811-77A>G	noncoding	Benign
2	214745246	G	C	G214745246C	BARD1	NM_000465.4(BARD1):c.1811-87C>G	noncoding	Benign
2	214745589	G	T	G214745589T	BARD1	NM_000465.4(BARD1):c.1810+133C>A	noncoding	Benign
2	214745791	G	A	G214745791A	BARD1	NM_000465.4(BARD1):c.1741C>T:p.Gln581Ter	coding	Pathogenic
2	214745837	A	G	A214745837G	BARD1	NM_000465.4(BARD1):c.1695T>C:p.Arg565=	coding	Benign/Likely_benign
2	214746016	A	T	A214746016T	BARD1	NM_000465.4(BARD1):c.1678-162T>A	noncoding	Benign
2	214746053	T	C	T214746053C	BARD1	NM_000465.4(BARD1):c.1678-199A>G	noncoding	Benign
2	214746187	G	A	G214746187A	BARD1	NM_000465.4(BARD1):c.1678-333C>T	noncoding	Benign
2	214752358	T	G	T214752358G	BARD1	NM_000465.4(BARD1):c.1677+89A>C	noncoding	Benign
2	214752466	G	C	G214752466C	BARD1	NM_000465.4(BARD1):c.1658C>G:p.Ser553Ter	coding	Pathogenic
2	214752556	C	G	C214752556G	BARD1	NM_000465.4(BARD1):c.1569-1G>C	coding	Pathogenic/Likely_pathogenic
2	214752611	T	C	T214752611C	BARD1	NM_000465.4(BARD1):c.1569-56A>G	noncoding	Benign
2	214752776	T	C	T214752776C	BARD1	NM_000465.4(BARD1):c.1569-221A>G	noncoding	Benign
2	214767324	G	T	G214767324T	BARD1	NM_000465.4(BARD1):c.1568+158C>A	noncoding	Benign
2	214767396	G	T	G214767396T	BARD1	NM_000465.4(BARD1):c.1568+86C>A	noncoding	Benign
2	214767401	T	C	T214767401C	BARD1	NM_000465.4(BARD1):c.1568+81A>G	noncoding	Benign
2	214767431	T	C	T214767431C	BARD1	NM_000465.4(BARD1):c.1568+51A>G	noncoding	Benign
2	214767440	A	G	A214767440G	BARD1	NM_000465.4(BARD1):c.1568+42T>C	noncoding	Benign
2	214767496	G	A	G214767496A	BARD1	NM_000465.4(BARD1):c.1554C>T:p.Ala518=	coding	Benign/Likely_benign
2	214767512	A	C	A214767512C	BARD1	NM_000465.4(BARD1):c.1538T>G:p.Leu513Ter	coding	Pathogenic
2	214767600	T	A	T214767600A	BARD1	NM_000465.4(BARD1):c.1450A>T:p.Lys484Ter	coding	Pathogenic
2	214767905	G	T	G214767905T	BARD1	NM_000465.4(BARD1):c.1396-251C>A	noncoding	Benign
2	214767935	A	T	A214767935T	BARD1	NM_000465.4(BARD1):c.1396-281T>A	noncoding	Benign
2	214769280	T	C	T214769280C	BARD1	NM_000465.4(BARD1):c.1347A>G:p.Gln449=	coding	Benign/Likely_benign
2	214769508	A	G	A214769508G	BARD1	NM_000465.4(BARD1):c.1315-196T>C	noncoding	Benign
2	214769512	T	C	T214769512C	BARD1	NM_000465.4(BARD1):c.1315-200A>G	noncoding	Benign
2	214769514	G	A	G214769514A	BARD1	NM_000465.4(BARD1):c.1315-202C>T	noncoding	Benign
2	214780306	T	C	T214780306C	BARD1	NM_000465.4(BARD1):c.1314+254A>G	noncoding	Benign
2	214780322	C	T	C214780322T	BARD1	NM_000465.4(BARD1):c.1314+238G>A	noncoding	Benign
2	214780411	A	G	A214780411G	BARD1	NM_000465.4(BARD1):c.1314+149T>C	noncoding	Benign
2	214780531	G	C	G214780531C	BARD1	NM_000465.4(BARD1):c.1314+29C>G	noncoding	Benign/Likely_benign
2	214780549	A	C	A214780549C	BARD1	NM_000465.4(BARD1):c.1314+11T>G	noncoding	Benign/Likely_benign
2	214780788	A	T	A214780788T	BARD1	NM_000465.4(BARD1):c.1086T>A:p.Cys362Ter	coding	Pathogenic
2	214780826	G	A	G214780826A	BARD1	NM_000465.4(BARD1):c.1048C>T:p.Gln350Ter	coding	Pathogenic
2	214780895	T	A	T214780895A	BARD1	NM_000465.4(BARD1):c.979A>T:p.Arg327Ter	coding	Pathogenic
2	214781343	T	C	T214781343C	BARD1	NM_000465.4(BARD1):c.531A>G:p.Gln177=	coding	Benign/Likely_benign
2	214781389	G	T	G214781389T	BARD1	NM_000465.4(BARD1):c.485C>A:p.Ser162Ter	coding	Pathogenic
2	214792281	T	C	T214792281C	BARD1	NM_000465.4(BARD1):c.364+16A>G	noncoding	Benign/Likely_benign
2	214792345	G	A	G214792345A	BARD1	NM_000465.4(BARD1):c.316C>T:p.Gln106Ter	coding	Pathogenic
2	214792388	C	T	C214792388T	BARD1	NM_000465.4(BARD1):c.273G>A:p.Trp91Ter	coding	Pathogenic
2	214792408	C	A	C214792408A	BARD1	NM_000465.4(BARD1):c.253G>T:p.Val85Leu	coding	Benign/Likely_benign
2	214792761	C	T	C214792761T	BARD1	NM_000465.4(BARD1):c.216-316G>A	noncoding	Benign
2	214796929	T	C	T214796929C	BARD1	NM_000465.4(BARD1):c.215+132A>G	noncoding	Benign
2	214796986	T	C	T214796986C	BARD1	NM_000465.4(BARD1):c.215+75A>G	noncoding	Benign
2	214797118	C	A	C214797118A	BARD1	NM_000465.4(BARD1):c.159-1G>T	coding	Pathogenic/Likely_pathogenic
2	214797187	A	C	A214797187C	BARD1	NM_000465.4(BARD1):c.159-70T>G	noncoding	Benign
2	214809213	C	T	C214809213T	BARD1	NM_000465.4(BARD1):c.158+199G>A	noncoding	Benign
2	214809366	T	G	T214809366G	BARD1	NM_000465.4(BARD1):c.158+46A>C	noncoding	Benign
2	214809588	A	G	A214809588G	BARD1	NM_000465.4(BARD1):c.-19T>C	noncoding	Benign/Likely_benign
2	214809712	C	T	C214809712T	BARD1	Single_allele	noncoding	Benign
2	214809895	G	C	G214809895C	BARD1	Single_allele	noncoding	Benign
2	214934000	A	G	A214934000G	ABCA12	NM_173076.3(ABCA12):c.7680+78T>C	noncoding	Benign
2	214943018	C	G	C214943018G	ABCA12	NM_173076.3(ABCA12):c.7344-1G>C	coding	Pathogenic
2	214947557	C	T	C214947557T	ABCA12	NM_173076.3(ABCA12):c.7105-1G>A	coding	Pathogenic
2	214949195	A	G	A214949195G	ABCA12	NM_173076.3(ABCA12):c.6853-46T>C	noncoding	Benign
2	214955129	T	C	T214955129C	ABCA12	NM_173076.3(ABCA12):c.6393+73A>G	noncoding	Benign
2	214955362	C	G	C214955362G	ABCA12	NM_173076.3(ABCA12):c.6234-1G>C	coding	Pathogenic/Likely_pathogenic
2	214968691	A	G	A214968691G	ABCA12	NM_173076.3(ABCA12):c.5778+29T>C	noncoding	Benign
2	214968898	G	T	G214968898T	ABCA12	NM_173076.3(ABCA12):c.5691-91C>A	noncoding	Benign
2	214975690	C	A	C214975690A	ABCA12	NM_173076.3(ABCA12):c.5381+95G>T	noncoding	Benign
2	214976105	A	G	A214976105G	ABCA12	NM_173076.3(ABCA12):c.5129-68T>C	noncoding	Benign
2	214978315	C	T	C214978315T	ABCA12	NM_173076.3(ABCA12):c.5128+1G>A	noncoding	Pathogenic
2	214982171	G	A	G214982171A	ABCA12	NM_173076.3(ABCA12):c.4579+16C>T	noncoding	Benign
2	214982453	C	A	C214982453A	ABCA12	NM_173076.3(ABCA12):c.4383-70G>T	noncoding	Benign
2	214987741	C	T	C214987741T	ABCA12	NM_173076.3(ABCA12):c.3882G>A:p.Trp1294Ter	coding	Pathogenic
2	214989590	G	A	G214989590A	ABCA12	NM_173076.3(ABCA12):c.3656C>T:p.Ala1219Val	coding	Pathogenic
2	214991056	G	A	G214991056A	ABCA12	NM_173076.3(ABCA12):c.3295-25C>T	noncoding	Benign
2	214997659	G	A	G214997659A	ABCA12	NM_173076.3(ABCA12):c.3294+36C>T	noncoding	Benign
2	215000928	G	A	G215000928A	ABCA12	NM_173076.3(ABCA12):c.2956C>T:p.Arg986Trp	coding	Pathogenic
2	215001125	G	A	G215001125A	ABCA12	NM_173076.3(ABCA12):c.2864-105C>T	noncoding	Benign
2	215004342	T	C	T215004342C	ABCA12	NM_173076.3(ABCA12):c.2593-43A>G	noncoding	Benign
2	215007610	G	A	G215007610A	ABCA12	NM_173076.3(ABCA12):c.2592+117C>T	noncoding	Benign
2	215010194	T	C	T215010194C	ABCA12	NM_173076.3(ABCA12):c.2472+137A>G	noncoding	Benign
2	215010241	G	T	G215010241T	ABCA12	NM_173076.3(ABCA12):c.2472+90C>A	noncoding	Benign
2	215019264	T	C	T215019264C	ABCA12	NM_173076.3(ABCA12):c.1657+72A>G	noncoding	Benign
2	215025529	C	G	C215025529G	ABCA12	NM_173076.3(ABCA12):c.1287+144G>C	noncoding	Benign
2	215025588	A	G	A215025588G	ABCA12	NM_173076.3(ABCA12):c.1287+85T>C	noncoding	Benign
2	215025659	C	A	C215025659A	ABCA12	NM_173076.3(ABCA12):c.1287+14G>T	noncoding	Benign/Likely_benign
2	215025750	G	A	G215025750A	ABCA12	NM_173076.3(ABCA12):c.1210C>T:p.Arg404Ter	coding	Pathogenic
2	215036868	A	G	A215036868G	ABCA12	NM_173076.3(ABCA12):c.985+85T>C	noncoding	Benign
2	215064249	G	C	G215064249C	ABCA12	NM_173076.3(ABCA12):c.164-30C>G	noncoding	Benign
2	215111508	A	T	A215111508T	ABCA12	NM_173076.3(ABCA12):c.163+89T>A	noncoding	Benign
2	215311925	A	G	A215311925G	ATIC	NM_004044.7(ATIC):c.-218A>G	noncoding	Benign
2	215312084	T	G	T215312084G	ATIC	NM_004044.7(ATIC):c.-59T>G	noncoding	Benign
2	215318046	A	T	A215318046T	ATIC	NM_004044.7(ATIC):c.147-111A>T	noncoding	Benign
2	215325968	A	C	A215325968C	ATIC	NM_004044.7(ATIC):c.380-19A>C	noncoding	Benign
2	215326810	C	T	C215326810T	ATIC	NM_004044.7(ATIC):c.532-12C>T	noncoding	Benign
2	215336184	C	G	C215336184G	ATIC	NM_004044.7(ATIC):c.1098+60C>G	noncoding	Benign
2	215340444	G	A	G215340444A	ATIC	NM_004044.7(ATIC):c.1227+1537G>A	noncoding	Benign
2	215344749	A	G	A215344749G	ATIC	NM_004044.7(ATIC):c.1228-30A>G	noncoding	Benign
2	215346849	C	T	C215346849T	ATIC	NM_004044.7(ATIC):c.1411C>T:p.Pro471Ser	coding	Benign
2	215346881	A	G	A215346881G	ATIC	NM_004044.7(ATIC):c.1443A>G:p.Gly481=	coding	Benign
2	215346989	A	T	A215346989T	ATIC	NM_004044.7(ATIC):c.1503+48A>T	noncoding	Benign
2	215361621	A	C	A215361621C	FN1	NM_212482.4(FN1):c.7368T>G:p.Val2456=	coding	Benign
2	215361645	G	A	G215361645A	FN1	NM_212482.4(FN1):c.7363-19C>T	noncoding	Benign
2	215361919	A	C	A215361919C	FN1	NM_212482.4(FN1):c.7362+50T>G	noncoding	Benign
2	215362036	C	G	C215362036G	FN1	NM_212482.4(FN1):c.7295G>C:p.Ser2432Thr	coding	Benign
2	215362230	G	A	G215362230A	FN1	NM_212482.4(FN1):c.7252-151C>T	noncoding	Benign
2	215364678	G	A	G215364678A	FN1	NM_212482.4(FN1):c.7251+201C>T	noncoding	Benign
2	215364969	A	G	A215364969G	FN1	NM_212482.4(FN1):c.7161T>C:p.Tyr2387=	coding	Benign
2	215365127	C	T	C215365127T	FN1	NM_212482.4(FN1):c.7145-142G>A	noncoding	Benign
2	215365358	T	C	T215365358C	FN1	NM_212482.4(FN1):c.7144+147A>G	noncoding	Benign
2	215365493	G	C	G215365493C	FN1	NM_212482.4(FN1):c.7144+12C>G	noncoding	Benign
2	215365810	T	A	T215365810A	FN1	NM_212482.4(FN1):c.7019-180A>T	noncoding	Benign
2	215365811	T	A	T215365811A	FN1	NM_212482.4(FN1):c.7019-181A>T	noncoding	Benign
2	215367576	C	A	C215367576A	FN1	NM_212482.4(FN1):c.7018+287G>T	noncoding	Benign
2	215367833	C	A	C215367833A	FN1	NM_212482.4(FN1):c.7018+30G>T	noncoding	Benign
2	215367833	C	T	C215367833T	FN1	NM_212482.4(FN1):c.7018+30G>A	noncoding	Benign
2	215367958	A	G	A215367958G	FN1	NM_212482.4(FN1):c.6923T>C:p.Val2308Ala	coding	Benign
2	215367994	G	A	G215367994A	FN1	NM_212482.4(FN1):c.6887C>T:p.Ser2296Leu	coding	Benign
2	215368225	C	T	C215368225T	FN1	NM_212482.4(FN1):c.6854-198G>A	noncoding	Benign
2	215368255	C	A	C215368255A	FN1	NM_212482.4(FN1):c.6854-228G>T	noncoding	Benign
2	215369996	G	C	G215369996C	FN1	NM_212482.4(FN1):c.6853+298C>G	noncoding	Benign
2	215370168	G	A	G215370168A	FN1	NM_212482.4(FN1):c.6853+126C>T	noncoding	Benign
2	215370282	G	C	G215370282C	FN1	NM_212482.4(FN1):c.6853+12C>G	noncoding	Benign
2	215370323	C	T	C215370323T	FN1	NM_212482.4(FN1):c.6824G>A:p.Arg2275Gln	coding	Benign
2	215370366	C	T	C215370366T	FN1	NM_212482.4(FN1):c.6781G>A:p.Val2261Ile	coding	Benign
2	215370519	T	G	T215370519G	FN1	NM_212482.4(FN1):c.6715-87A>C	noncoding	Benign
2	215370547	C	A	C215370547A	FN1	NM_212482.4(FN1):c.6715-115G>T	noncoding	Benign
2	215370554	C	A	C215370554A	FN1	NM_212482.4(FN1):c.6715-122G>T	noncoding	Benign
2	215370665	A	G	A215370665G	FN1	NM_212482.4(FN1):c.6715-233T>C	noncoding	Benign
2	215371688	T	C	T215371688C	FN1	NM_212482.4(FN1):c.6714+221A>G	noncoding	Benign
2	215371759	T	C	T215371759C	FN1	NM_212482.4(FN1):c.6714+150A>G	noncoding	Benign
2	215371809	G	A	G215371809A	FN1	NM_212482.4(FN1):c.6714+100C>T	noncoding	Benign
2	215371878	C	T	C215371878T	FN1	NM_212482.4(FN1):c.6714+31G>A	noncoding	Benign
2	215371989	T	C	T215371989C	FN1	NM_212482.4(FN1):c.6634A>G:p.Ile2212Val	coding	Benign/Likely_benign
2	215372287	A	G	A215372287G	FN1	NM_212482.4(FN1):c.6336T>C:p.Pro2112=	coding	Benign
2	215373206	A	T	A215373206T	FN1	NM_212482.4(FN1):c.6247+116T>A	noncoding	Benign
2	215373290	C	T	C215373290T	FN1	NM_212482.4(FN1):c.6247+32G>A	noncoding	Benign
2	215373445	A	G	A215373445G	FN1	NM_212482.4(FN1):c.6158-34T>C	noncoding	Benign
2	215373597	A	G	A215373597G	FN1	NM_212482.4(FN1):c.6158-186T>C	noncoding	Benign
2	215374910	G	C	G215374910C	FN1	NM_212482.4(FN1):c.6157+304C>G	noncoding	Benign
2	215375036	A	G	A215375036G	FN1	NM_212482.4(FN1):c.6157+178T>C	noncoding	Benign
2	215375642	G	A	G215375642A	FN1	NM_212482.4(FN1):c.5964C>T:p.Ile1988=	coding	Benign
2	215375861	T	G	T215375861G	FN1	NM_212482.4(FN1):c.5888-143A>C	noncoding	Benign
2	215376624	T	A	T215376624A	FN1	NM_212482.4(FN1):c.5761A>T:p.Ile1921Phe	coding	Benign/Likely_benign
2	215376719	C	T	C215376719T	FN1	NM_212482.4(FN1):c.5711-45G>A	noncoding	Benign
2	215378194	T	A	T215378194A	FN1	NM_212482.4(FN1):c.5691A>T:p.Gly1897=	coding	Benign
2	215378234	T	C	T215378234C	FN1	NM_212482.4(FN1):c.5651A>G:p.Tyr1884Cys	coding	Benign
2	215378275	G	C	G215378275C	FN1	NM_212482.4(FN1):c.5623-13C>G	noncoding	Benign
2	215378862	T	C	T215378862C	FN1	NM_212482.4(FN1):c.5622+268A>G	noncoding	Benign
2	215378927	A	G	A215378927G	FN1	NM_212482.4(FN1):c.5622+203T>C	noncoding	Benign
2	215379109	T	C	T215379109C	FN1	NM_212482.4(FN1):c.5622+21A>G	noncoding	Benign
2	215379352	T	C	T215379352C	FN1	NM_212482.4(FN1):c.5435-35A>G	noncoding	Benign
2	215380669	C	T	C215380669T	FN1	NM_212482.4(FN1):c.5434+142G>A	noncoding	Benign
2	215380971	C	A	C215380971A	FN1	NM_212482.4(FN1):c.5274G>T:p.Ser1758=	coding	Benign/Likely_benign
2	215381357	A	G	A215381357G	FN1	NM_212482.4(FN1):c.5165-277T>C	noncoding	Benign
2	215381935	T	A	T215381935A	FN1	NM_212482.4(FN1):c.5164+277A>T	noncoding	Benign
2	215382197	G	T	G215382197T	FN1	NM_212482.4(FN1):c.5164+15C>A	noncoding	Benign
2	215382198	C	A	C215382198A	FN1	NM_212482.4(FN1):c.5164+14G>T	noncoding	Benign
2	215383159	C	G	C215383159G	FN1	NM_212482.4(FN1):c.5050+169G>C	noncoding	Benign
2	215383582	G	T	G215383582T	FN1	NM_212482.4(FN1):c.4895-99C>A	noncoding	Benign
2	215383737	A	C	A215383737C	FN1	NM_212482.4(FN1):c.4895-254T>G	noncoding	Benign
2	215383799	A	T	A215383799T	FN1	NM_212482.4(FN1):c.4894+221T>A	noncoding	Benign
2	215383840	C	T	C215383840T	FN1	NM_212482.4(FN1):c.4894+180G>A	noncoding	Benign
2	215383883	T	C	T215383883C	FN1	NM_212482.4(FN1):c.4894+137A>G	noncoding	Benign
2	215384864	C	T	C215384864T	FN1	NM_212482.4(FN1):c.4725G>A:p.Glu1575=	coding	Benign
2	215385027	A	G	A215385027G	FN1	NM_212482.4(FN1):c.4613-51T>C	noncoding	Benign
2	215385096	C	T	C215385096T	FN1	NM_212482.4(FN1):c.4613-120G>A	noncoding	Benign
2	215385283	C	T	C215385283T	FN1	NM_212482.4(FN1):c.4613-307G>A	noncoding	Benign
2	215386857	G	A	G215386857A	FN1	NM_212482.4(FN1):c.4444C>T:p.Arg1482Cys	coding	Benign/Likely_benign
2	215386974	G	A	G215386974A	FN1	NM_212482.4(FN1):c.4343-16C>T	noncoding	Benign
2	215388033	T	C	T215388033C	FN1	NM_212482.4(FN1):c.4342+179A>G	noncoding	Benign
2	215388297	G	A	G215388297A	FN1	NM_212482.4(FN1):c.4257C>T:p.Leu1419=	coding	Benign
2	215388316	G	C	G215388316C	FN1	NM_212482.4(FN1):c.4253-15C>G	noncoding	Benign
2	215391428	T	A	T215391428A	FN1	NM_212482.4(FN1):c.4252+204A>T	noncoding	Benign
2	215391498	T	G	T215391498G	FN1	NM_212482.4(FN1):c.4252+134A>C	noncoding	Benign
2	215391504	G	C	G215391504C	FN1	NM_212482.4(FN1):c.4252+128C>G	noncoding	Benign
2	215391621	C	G	C215391621G	FN1	NM_212482.4(FN1):c.4252+11G>C	noncoding	Benign
2	215391892	T	C	T215391892C	FN1	NM_212482.4(FN1):c.4070-78A>G	noncoding	Benign
2	215391984	T	C	T215391984C	FN1	NM_212482.4(FN1):c.4070-170A>G	noncoding	Benign
2	215392052	A	G	A215392052G	FN1	NM_212482.4(FN1):c.4070-238T>C	noncoding	Benign
2	215392624	C	A	C215392624A	FN1	NM_212482.4(FN1):c.4069+307G>T	noncoding	Benign
2	215393528	A	G	A215393528G	FN1	NM_212482.4(FN1):c.3797-325T>C	noncoding	Benign
2	215394756	G	A	G215394756A	FN1	NM_212482.4(FN1):c.3605-37C>T	noncoding	Benign
2	215394865	G	T	G215394865T	FN1	NM_212482.4(FN1):c.3605-146C>A	noncoding	Benign
2	215397209	T	C	T215397209C	FN1	NM_212482.4(FN1):c.3532A>G:p.Thr1178Ala	coding	Benign
2	215397403	C	T	C215397403T	FN1	NM_212482.4(FN1):c.3518-180G>A	noncoding	Benign
2	215397624	T	C	T215397624C	FN1	NM_212482.4(FN1):c.3517+56A>G	noncoding	Benign
2	215397677	T	C	T215397677C	FN1	NM_212482.4(FN1):c.3517+3A>G	noncoding	Benign/Likely_benign
2	215397868	G	C	G215397868C	FN1	NM_212482.4(FN1):c.3349-20C>G	noncoding	Benign
2	215397898	A	C	A215397898C	FN1	NM_212482.4(FN1):c.3349-50T>G	noncoding	Benign
2	215398065	A	G	A215398065G	FN1	NM_212482.4(FN1):c.3349-217T>C	noncoding	Benign
2	215398983	G	A	G215398983A	FN1	NM_212482.4(FN1):c.3348+274C>T	noncoding	Benign
2	215399203	C	A	C215399203A	FN1	NM_212482.4(FN1):c.3348+54G>T	noncoding	Benign
2	215399234	G	C	G215399234C	FN1	NM_212482.4(FN1):c.3348+23C>G	noncoding	Benign
2	215399547	G	T	G215399547T	FN1	NM_212482.4(FN1):c.3254-196C>A	noncoding	Benign
2	215404179	C	T	C215404179T	FN1	NM_212482.4(FN1):c.3253+210G>A	noncoding	Benign
2	215404308	G	T	G215404308T	FN1	NM_212482.4(FN1):c.3253+81C>A	noncoding	Benign
2	215404310	T	G	T215404310G	FN1	NM_212482.4(FN1):c.3253+79A>C	noncoding	Benign
2	215404323	G	T	G215404323T	FN1	NM_212482.4(FN1):c.3253+66C>A	noncoding	Benign
2	215404372	C	T	C215404372T	FN1	NM_212482.4(FN1):c.3253+17G>A	noncoding	Benign
2	215404486	T	G	T215404486G	FN1	NM_212482.4(FN1):c.3156A>C:p.Pro1052=	coding	Benign
2	215404531	T	G	T215404531G	FN1	NM_212482.4(FN1):c.3111A>C:p.Gly1037=	coding	Benign
2	215404916	C	T	C215404916T	FN1	NM_212482.4(FN1):c.2987-261G>A	noncoding	Benign
2	215404917	G	A	G215404917A	FN1	NM_212482.4(FN1):c.2987-262C>T	noncoding	Benign
2	215406211	G	A	G215406211A	FN1	NM_212482.4(FN1):c.2986+27C>T	noncoding	Benign
2	215406328	C	T	C215406328T	FN1	NM_212482.4(FN1):c.2896G>A:p.Gly966Arg	coding	Benign/Likely_benign
2	215406787	A	T	A215406787T	FN1	NM_212482.4(FN1):c.2714-277T>A	noncoding	Benign
2	215406921	C	T	C215406921T	FN1	NM_212482.4(FN1):c.2713+206G>A	noncoding	Benign
2	215406952	C	G	C215406952G	FN1	NM_212482.4(FN1):c.2713+175G>C	noncoding	Benign
2	215407040	A	T	A215407040T	FN1	NM_212482.4(FN1):c.2713+87T>A	noncoding	Benign
2	215407089	A	T	A215407089T	FN1	NM_212482.4(FN1):c.2713+38T>A	noncoding	Benign
2	215407947	A	C	A215407947C	FN1	NM_212482.4(FN1):c.2518+161T>G	noncoding	Benign
2	215408046	G	A	G215408046A	FN1	NM_212482.4(FN1):c.2518+62C>T	noncoding	Benign
2	215408096	C	G	C215408096G	FN1	NM_212482.4(FN1):c.2518+12G>C	noncoding	Benign
2	215408177	T	G	T215408177G	FN1	NM_212482.4(FN1):c.2449A>C:p.Thr817Pro	coding	Benign
2	215408184	A	T	A215408184T	FN1	NM_212482.4(FN1):c.2442T>A:p.Pro814=	coding	Benign
2	215408729	G	A	G215408729A	FN1	NM_212482.4(FN1):c.2300-303C>T	noncoding	Benign
2	215409675	G	A	G215409675A	FN1	NM_212482.4(FN1):c.2187C>T:p.Thr729=	coding	Benign
2	215409924	G	A	G215409924A	FN1	NM_212482.4(FN1):c.2122+10C>T	noncoding	Benign
2	215409965	G	A	G215409965A	FN1	NM_212482.4(FN1):c.2091C>T:p.Phe697=	coding	Benign
2	215414550	A	G	A215414550G	FN1	NM_212482.4(FN1):c.1941+287T>C	noncoding	Benign
2	215415213	A	T	A215415213T	FN1	NM_212482.4(FN1):c.1820-255T>A	noncoding	Benign
2	215415283	C	T	C215415283T	FN1	NM_212482.4(FN1):c.1820-325G>A	noncoding	Benign
2	215419235	T	A	T215419235A	FN1	NM_212482.4(FN1):c.1819+7A>T	noncoding	Benign
2	215419279	A	G	A215419279G	FN1	NM_212482.4(FN1):c.1782T>C:p.Ile594=	coding	Benign
2	215419394	C	T	C215419394T	FN1	NM_212482.4(FN1):c.1676-9G>A	noncoding	Benign
2	215420652	T	C	T215420652C	FN1	NM_212482.4(FN1):c.1675+21A>G	noncoding	Benign
2	215421006	C	T	C215421006T	FN1	NM_212482.4(FN1):c.1547-205G>A	noncoding	Benign
2	215422370	A	G	A215422370G	FN1	NM_212482.4(FN1):c.1394-127T>C	noncoding	Benign
2	215422374	A	G	A215422374G	FN1	NM_212482.4(FN1):c.1394-131T>C	noncoding	Benign
2	215422553	A	G	A215422553G	FN1	NM_212482.4(FN1):c.1394-310T>C	noncoding	Benign
2	215423073	C	G	C215423073G	FN1	NM_212482.4(FN1):c.1393+277G>C	noncoding	Benign
2	215423562	T	A	T215423562A	FN1	NM_212482.4(FN1):c.1217-36A>T	noncoding	Benign
2	215424054	G	A	G215424054A	FN1	NM_212482.4(FN1):c.1216+92C>T	noncoding	Benign
2	215424072	G	A	G215424072A	FN1	NM_212482.4(FN1):c.1216+74C>T	noncoding	Benign
2	215424116	A	C	A215424116C	FN1	NM_212482.4(FN1):c.1216+30T>G	noncoding	Benign
2	215424118	T	C	T215424118C	FN1	NM_212482.4(FN1):c.1216+28A>G	noncoding	Benign
2	215424620	G	A	G215424620A	FN1	NM_212482.4(FN1):c.1037-295C>T	noncoding	Benign
2	215425060	C	A	C215425060A	FN1	NM_212482.4(FN1):c.1036+34G>T	noncoding	Benign
2	215425128	C	T	C215425128T	FN1	NM_212482.4(FN1):c.1002G>A:p.Thr334=	coding	Benign
2	215425243	G	A	G215425243A	FN1	NM_212482.4(FN1):c.887C>T:p.Pro296Leu	coding	Benign/Likely_benign
2	215425424	T	A	T215425424A	FN1	NM_212482.4(FN1):c.845-139A>T	noncoding	Benign
2	215428054	A	G	A215428054G	FN1	NM_212482.4(FN1):c.844+126T>C	noncoding	Benign
2	215428217	C	T	C215428217T	FN1	NM_212482.4(FN1):c.807G>A:p.Lys269=	coding	Benign
2	215428273	T	A	T215428273A	FN1	NM_212482.4(FN1):c.751A>T:p.Asn251Tyr	coding	Benign/Likely_benign
2	215430468	T	G	T215430468G	FN1	NM_212482.4(FN1):c.685+247A>C	noncoding	Benign
2	215430469	G	T	G215430469T	FN1	NM_212482.4(FN1):c.685+246C>A	noncoding	Benign
2	215430558	G	A	G215430558A	FN1	NM_212482.4(FN1):c.685+157C>T	noncoding	Benign
2	215430589	T	A	T215430589A	FN1	NM_212482.4(FN1):c.685+126A>T	noncoding	Benign
2	215430614	A	G	A215430614G	FN1	NM_212482.4(FN1):c.685+101T>C	noncoding	Benign
2	215430726	C	A	C215430726A	FN1	NM_212482.4(FN1):c.674G>T:p.Cys225Phe	coding	Pathogenic
2	215431534	G	C	G215431534C	FN1	NM_212482.4(FN1):c.547+299C>G	noncoding	Benign
2	215431814	A	G	A215431814G	FN1	NM_212482.4(FN1):c.547+19T>C	noncoding	Benign/Likely_benign
2	215431823	A	G	A215431823G	FN1	NM_212482.4(FN1):c.547+10T>C	noncoding	Benign/Likely_benign
2	215431981	G	A	G215431981A	FN1	NM_212482.4(FN1):c.416-17C>T	noncoding	Benign
2	215432137	G	A	G215432137A	FN1	NM_212482.4(FN1):c.416-173C>T	noncoding	Benign
2	215433073	G	C	G215433073C	FN1	NM_212482.4(FN1):c.415+251C>G	noncoding	Benign
2	215433152	G	A	G215433152A	FN1	NM_212482.4(FN1):c.415+172C>T	noncoding	Benign
2	215433361	G	A	G215433361A	FN1	NM_212482.4(FN1):c.378C>T:p.Ile126=	coding	Benign
2	215433507	C	T	C215433507T	FN1	NM_212482.4(FN1):c.278-46G>A	noncoding	Benign
2	215433690	A	C	A215433690C	FN1	NM_212482.4(FN1):c.278-229T>G	noncoding	Benign
2	215434398	T	C	T215434398C	FN1	NM_212482.4(FN1):c.277+298A>G	noncoding	Benign
2	215434558	A	C	A215434558C	FN1	NM_212482.4(FN1):c.277+138T>G	noncoding	Benign
2	215434712	G	C	G215434712C	FN1	NM_212482.4(FN1):c.261C>G:p.Cys87Trp	coding	Pathogenic
2	215434827	G	A	G215434827A	FN1	NM_212482.4(FN1):c.149-3C>T	noncoding	Benign
2	215434828	C	A	C215434828A	FN1	NM_212482.4(FN1):c.149-4G>T	noncoding	Benign
2	215434906	C	G	C215434906G	FN1	NM_212482.4(FN1):c.149-82G>C	noncoding	Benign
2	215435462	C	T	C215435462T	FN1	NM_212482.4(FN1):c.148+193G>A	noncoding	Benign
2	215435639	C	T	C215435639T	FN1	NM_212482.4(FN1):c.148+16G>A	noncoding	Benign
2	215436072	C	G	C215436072G	FN1	Single_allele	noncoding	Benign
2	216130957	C	T	C216130957T	XRCC5	NM_021141.4(XRCC5):c.1020C>T:p.Phe340=	coding	Benign/Likely_benign
2	216414828	A	G	A216414828G	SMARCAL1	NM_014140.4(SMARCAL1):c.124A>G:p.Ile42Val	coding	Benign
2	216414974	C	T	C216414974T	SMARCAL1	NM_014140.4(SMARCAL1):c.270C>T:p.His90=	coding	Benign
2	216415113	C	T	C216415113T	SMARCAL1	NM_014140.4(SMARCAL1):c.409C>T:p.Gln137Ter	coding	Pathogenic
2	216415120	T	A	T216415120A	SMARCAL1	NM_014140.4(SMARCAL1):c.416T>A:p.Leu139Ter	coding	Pathogenic
2	216415671	T	C	T216415671C	SMARCAL1	NM_014140.4(SMARCAL1):c.811+156T>C	noncoding	Benign
2	216416101	T	C	T216416101C	SMARCAL1	NM_014140.4(SMARCAL1):c.812-156T>C	noncoding	Benign
2	216416153	T	C	T216416153C	SMARCAL1	NM_014140.4(SMARCAL1):c.812-104T>C	noncoding	Benign
2	216416168	G	A	G216416168A	SMARCAL1	NM_014140.4(SMARCAL1):c.812-89G>A	noncoding	Benign
2	216416490	G	A	G216416490A	SMARCAL1	NM_014140.4(SMARCAL1):c.862+183G>A	noncoding	Benign
2	216420260	C	G	C216420260G	SMARCAL1	NM_014140.4(SMARCAL1):c.863-39C>G	noncoding	Benign
2	216420436	C	T	C216420436T	SMARCAL1	NM_014140.4(SMARCAL1):c.1000C>T:p.Arg334Ter	coding	Pathogenic
2	216420492	C	T	C216420492T	SMARCAL1	NM_014140.4(SMARCAL1):c.1056C>T:p.Asp352=	coding	Benign
2	216420564	A	C	A216420564C	SMARCAL1	NM_014140.4(SMARCAL1):c.1096+32A>C	noncoding	Benign
2	216420684	A	G	A216420684G	SMARCAL1	NM_014140.4(SMARCAL1):c.1096+152A>G	noncoding	Benign
2	216428670	C	T	C216428670T	SMARCAL1	NM_014140.4(SMARCAL1):c.1222C>T:p.Gln408Ter	coding	Pathogenic
2	216432627	G	A	G216432627A	SMARCAL1	NM_014140.4(SMARCAL1):c.1335-91G>A	noncoding	Benign
2	216432695	A	G	A216432695G	SMARCAL1	NM_014140.4(SMARCAL1):c.1335-23A>G	noncoding	Benign
2	216432782	C	T	C216432782T	SMARCAL1	NM_014140.4(SMARCAL1):c.1399C>T:p.Gln467Ter	coding	Pathogenic
2	216435464	C	T	C216435464T	SMARCAL1	NM_014140.4(SMARCAL1):c.1612C>T:p.Gln538Ter	coding	Pathogenic
2	216438146	C	T	C216438146T	SMARCAL1	NM_014140.4(SMARCAL1):c.1645-274C>T	noncoding	Benign
2	216438364	T	C	T216438364C	SMARCAL1	NM_014140.4(SMARCAL1):c.1645-56T>C	noncoding	Benign
2	216446735	C	A	C216446735A	SMARCAL1	NM_014140.4(SMARCAL1):c.1711-283C>A	noncoding	Benign
2	216446886	G	A	G216446886A	SMARCAL1	NM_014140.4(SMARCAL1):c.1711-132G>A	noncoding	Benign
2	216446899	C	T	C216446899T	SMARCAL1	NM_014140.4(SMARCAL1):c.1711-119C>T	noncoding	Benign
2	216446907	G	T	G216446907T	SMARCAL1	NM_014140.4(SMARCAL1):c.1711-111G>T	noncoding	Benign
2	216446912	C	T	C216446912T	SMARCAL1	NM_014140.4(SMARCAL1):c.1711-106C>T	noncoding	Benign
2	216447157	G	T	G216447157T	SMARCAL1	NM_014140.4(SMARCAL1):c.1850G>T:p.Arg617Leu	coding	Benign
2	216447451	T	G	T216447451G	SMARCAL1	NM_014140.4(SMARCAL1):c.1851+293T>G	noncoding	Benign
2	216450641	A	C	A216450641C	SMARCAL1	NM_014140.4(SMARCAL1):c.1852-205A>C	noncoding	Benign
2	216450693	A	G	A216450693G	SMARCAL1	NM_014140.4(SMARCAL1):c.1852-153A>G	noncoding	Benign
2	216450853	G	A	G216450853A	SMARCAL1	NM_014140.4(SMARCAL1):c.1859G>A:p.Trp620Ter	coding	Pathogenic
2	216450924	C	T	C216450924T	SMARCAL1	NM_014140.4(SMARCAL1):c.1930C>T:p.Arg644Trp	coding	Pathogenic
2	216450925	G	A	G216450925A	SMARCAL1	NM_014140.4(SMARCAL1):c.1931G>A:p.Arg644Gln	coding	Pathogenic
2	216451107	A	T	A216451107T	SMARCAL1	NM_014140.4(SMARCAL1):c.2070+43A>T	noncoding	Benign
2	216464301	G	A	G216464301A	SMARCAL1	NM_014140.4(SMARCAL1):c.2071-296G>A	noncoding	Benign
2	216464461	T	C	T216464461C	SMARCAL1	NM_014140.4(SMARCAL1):c.2071-136T>C	noncoding	Benign
2	216476759	G	T	G216476759T	SMARCAL1	NM_014140.4(SMARCAL1):c.2428-350G>T	noncoding	Benign
2	216477014	G	A	G216477014A	SMARCAL1	NM_014140.4(SMARCAL1):c.2428-95G>A	noncoding	Benign
2	216477277	T	C	T216477277C	SMARCAL1	NM_014140.4(SMARCAL1):c.2528+68T>C	noncoding	Benign
2	216477340	A	G	A216477340G	SMARCAL1	NM_014140.4(SMARCAL1):c.2528+131A>G	noncoding	Benign
2	216477407	C	T	C216477407T	SMARCAL1	NM_014140.4(SMARCAL1):c.2528+198C>T	noncoding	Benign
2	216478050	T	G	T216478050G	SMARCAL1	NM_014140.4(SMARCAL1):c.2529-153T>G	noncoding	Benign
2	216482547	G	T	G216482547T	SMARCAL1	NM_014140.4(SMARCAL1):c.2626-191G>T	noncoding	Benign
2	216482705	C	T	C216482705T	SMARCAL1	NM_014140.4(SMARCAL1):c.2626-33C>T	noncoding	Benign
2	216483194	T	C	T216483194C	SMARCAL1	Single_allele	noncoding	Benign
2	217847567	G	A	G217847567A	TNS1	NM_001387777.1(TNS1):c.2950C>T:p.Arg984Trp	coding	Benign
2	218134532	G	A	G218134532A	CXCR2	NM_001557.4(CXCR2):c.-25-245G>A	noncoding	Benign
2	218134982	C	T	C218134982T	CXCR2	NM_001557.4(CXCR2):c.181C>T:p.Leu61=	coding	Benign
2	218135039	C	T	C218135039T	CXCR2	NM_001557.4(CXCR2):c.238C>T:p.Arg80Cys	coding	Benign
2	218135149	A	G	A218135149G	CXCR2	NM_001557.4(CXCR2):c.348A>G:p.Thr116=	coding	Benign
2	218135557	C	T	C218135557T	CXCR2	NM_001557.4(CXCR2):c.756C>T:p.Val252=	coding	Benign
2	218135569	C	T	C218135569T	CXCR2	NM_001557.4(CXCR2):c.768C>T:p.Val256=	coding	Benign
2	218135587	C	T	C218135587T	CXCR2	NM_001557.4(CXCR2):c.786C>T:p.Leu262=	coding	Benign
2	218135737	C	T	C218135737T	CXCR2	NM_001557.4(CXCR2):c.936C>T:p.Leu312=	coding	Benign
2	218136011	T	C	T218136011C	CXCR2	NM_001557.4(CXCR2):c.*127T>C	noncoding	Benign
2	218270205	A	G	A218270205G	PNKD	Single_allele	noncoding	Benign
2	218270227	C	T	C218270227T	PNKD	Single_allele	noncoding	Benign
2	218270290	G	A	G218270290A	PNKD	Single_allele	noncoding	Benign
2	218271207	C	T	C218271207T	PNKD	NM_015488.5(PNKD):c.68-174C>T	noncoding	Benign
2	218272618	G	A	G218272618A	PNKD	NM_015488.5(PNKD):c.236+1069G>A	coding	Benign
2	218275565	G	C	G218275565C	PNKD	NM_015488.5(PNKD):c.236+4016G>C	coding	Benign
2	218275662	A	G	A218275662G	PNKD	NM_015488.5(PNKD):c.236+4113A>G	noncoding	Benign
2	218281940	C	T	C218281940T	PNKD;TMBIM1	NM_022152.6(TMBIM1):c.202G>A:p.Gly68Ser	coding	Benign
2	218322880	C	A	C218322880A	PNKD	NM_015488.5(PNKD):c.237-16903C>A	noncoding	Benign
2	218322975	G	A	G218322975A	PNKD	NM_015488.5(PNKD):c.237-16808G>A	noncoding	Benign
2	218323017	C	T	C218323017T	PNKD	NM_015488.5(PNKD):c.237-16766C>T	noncoding	Benign
2	218323112	T	C	T218323112C	PNKD	NM_015488.5(PNKD):c.237-16671T>C	noncoding	Benign
2	218323514	G	A	G218323514A	PNKD	NM_015488.5(PNKD):c.237-16269G>A	noncoding	Benign
2	218323705	C	A	C218323705A	PNKD	NM_015488.5(PNKD):c.237-16078C>A	noncoding	Benign
2	218323720	T	G	T218323720G	PNKD	NM_015488.5(PNKD):c.237-16063T>G	noncoding	Benign
2	218323744	C	T	C218323744T	PNKD	NM_015488.5(PNKD):c.237-16039C>T	noncoding	Benign
2	218331076	G	A	G218331076A	PNKD	NM_015488.5(PNKD):c.237-8707G>A	noncoding	Benign
2	218339917	G	A	G218339917A	PNKD	NM_015488.5(PNKD):c.352+19G>A	noncoding	Benign
2	218340003	C	T	C218340003T	PNKD	NM_015488.5(PNKD):c.353-26C>T	noncoding	Benign/Likely_benign
2	218340894	G	A	G218340894A	PNKD	NM_015488.5(PNKD):c.524+108G>A	noncoding	Benign
2	218340906	C	T	C218340906T	PNKD	NM_015488.5(PNKD):c.524+120C>T	noncoding	Benign
2	218341341	G	A	G218341341A	PNKD	NM_015488.5(PNKD):c.525-193G>A	noncoding	Benign
2	218341414	C	T	C218341414T	PNKD	NM_015488.5(PNKD):c.525-120C>T	noncoding	Benign
2	218341712	C	G	C218341712G	PNKD	NM_015488.5(PNKD):c.617+86C>G	noncoding	Benign
2	218341769	T	C	T218341769C	PNKD	NM_015488.5(PNKD):c.617+143T>C	noncoding	Benign
2	218341922	A	G	A218341922G	PNKD	NM_015488.5(PNKD):c.618-59A>G	coding	Benign
2	218342196	C	T	C218342196T	PNKD	NM_015488.5(PNKD):c.781+52C>T	noncoding	Benign
2	218343254	A	G	A218343254G	PNKD	NM_015488.5(PNKD):c.782-246A>G	noncoding	Benign
2	218343754	C	G	C218343754G	PNKD	NM_015488.5(PNKD):c.868+168C>G	noncoding	Benign
2	218344670	A	G	A218344670G	PNKD	NM_015488.5(PNKD):c.984+100A>G	noncoding	Benign
2	218344846	G	A	G218344846A	PNKD	NM_015488.5(PNKD):c.1023G>A:p.Pro341=	coding	Benign
2	218357172	T	A	T218357172A	CATIP	NM_198559.2(CATIP):c.103T>A:p.Phe35Ile	coding	Pathogenic
2	218594250	C	T	C218594250T	CNOT9	NM_005444.3(CNOT9):c.874C>T:p.Arg292Trp	coding	Pathogenic
2	218638390	C	T	C218638390T	ZNF142	NM_001379659.1(ZNF142):c.5613G>A:p.Glu1871=	coding	Benign
2	218642579	C	T	C218642579T	ZNF142	NM_001379659.1(ZNF142):c.4537G>A:p.Ala1513Thr	coding	Benign
2	218643002	G	A	G218643002A	ZNF142	NM_001379659.1(ZNF142):c.4114C>T:p.Gln1372Ter	coding	Pathogenic
2	218643540	G	T	G218643540T	ZNF142	NM_001379659.1(ZNF142):c.3576C>A:p.Pro1192=	coding	Benign
2	218643564	G	A	G218643564A	ZNF142	NM_001379659.1(ZNF142):c.3552C>T:p.Val1184=	coding	Benign
2	218643649	A	T	A218643649T	ZNF142	NM_001379659.1(ZNF142):c.3467T>A:p.Leu1156His	coding	Benign
2	218644265	T	C	T218644265C	ZNF142	NM_001379659.1(ZNF142):c.2851A>G:p.Ser951Gly	coding	Benign
2	218644895	C	A	C218644895A	ZNF142	NM_001379659.1(ZNF142):c.2221G>T:p.Ala741Ser	coding	Benign
2	218648397	C	T	C218648397T	ZNF142	NM_001379659.1(ZNF142):c.1873+238G>A	noncoding	Benign
2	218648487	T	C	T218648487C	ZNF142	NM_001379659.1(ZNF142):c.1873+148A>G	noncoding	Benign
2	218648559	G	A	G218648559A	ZNF142	NM_001379659.1(ZNF142):c.1873+76C>T	noncoding	Benign
2	218648952	C	T	C218648952T	ZNF142	NM_001379659.1(ZNF142):c.1556G>A:p.Arg519His	coding	Benign
2	218649059	T	C	T218649059C	ZNF142	NM_001379659.1(ZNF142):c.1449A>G:p.Pro483=	coding	Benign
2	218650220	T	C	T218650220C	ZNF142	NM_001379659.1(ZNF142):c.1048+139A>G	noncoding	Benign
2	218656172	T	C	T218656172C	ZNF142	NM_001379659.1(ZNF142):c.258A>G:p.Pro86=	coding	Benign
2	218659583	G	A	G218659583A	BCS1L	NM_001379659.1(ZNF142):c.-576C>T	noncoding	Benign
2	218660306	G	A	G218660306A	BCS1L	NM_001079866.2(BCS1L):c.-50+563G>A	noncoding	Benign
2	218660549	A	G	A218660549G	BCS1L	NM_001079866.2(BCS1L):c.-49-390A>G	noncoding	Benign
2	218660859	A	G	A218660859G	BCS1L	NM_001079866.2(BCS1L):c.-49-80A>G	noncoding	Benign
2	218660988	A	G	A218660988G	BCS1L	NM_001079866.2(BCS1L):c.1A>G:p.Met1Val	coding	Pathogenic
2	218661225	G	T	G218661225T	BCS1L	NM_001079866.2(BCS1L):c.238G>T:p.Glu80Ter	coding	Pathogenic
2	218661240	C	T	C218661240T	BCS1L	NM_001079866.2(BCS1L):c.253C>T:p.Gln85Ter	coding	Pathogenic
2	218661308	G	A	G218661308A	BCS1L	NM_001079866.2(BCS1L):c.320+1G>A	coding	Pathogenic
2	218661421	G	A	G218661421A	BCS1L	NM_001079866.2(BCS1L):c.336G>A:p.Trp112Ter	coding	Pathogenic
2	218661425	C	T	C218661425T	BCS1L	NM_001079866.2(BCS1L):c.340C>T:p.Arg114Trp	coding	Pathogenic/Likely_pathogenic
2	218661434	C	T	C218661434T	BCS1L	NM_001079866.2(BCS1L):c.349C>T:p.Arg117Ter	coding	Pathogenic/Likely_pathogenic
2	218661470	G	A	G218661470A	BCS1L	NM_001079866.2(BCS1L):c.385G>A:p.Gly129Arg	coding	Pathogenic/Likely_pathogenic
2	218661526	C	T	C218661526T	BCS1L	NM_001079866.2(BCS1L):c.441C>T:p.Phe147=	coding	Pathogenic
2	218661761	C	T	C218661761T	BCS1L	NM_001079866.2(BCS1L):c.463C>T:p.Arg155Ter	coding	Pathogenic
2	218661776	C	T	C218661776T	BCS1L	NM_001079866.2(BCS1L):c.478C>T:p.Gln160Ter	coding	Pathogenic
2	218661791	A	T	A218661791T	BCS1L	NM_001079866.2(BCS1L):c.493A>T:p.Lys165Ter	coding	Pathogenic
2	218661940	G	A	G218661940A	BCS1L	NM_001079866.2(BCS1L):c.642G>A:p.Trp214Ter	coding	Pathogenic
2	218661954	G	C	G218661954C	BCS1L	NM_001079866.2(BCS1L):c.655+1G>C	coding	Pathogenic
2	218662244	G	C	G218662244C	BCS1L	NM_001079866.2(BCS1L):c.703G>C:p.Gly235Arg	coding	Pathogenic
2	218662253	A	G	A218662253G	BCS1L	NM_001079866.2(BCS1L):c.712A>G:p.Ser238Gly	coding	Pathogenic
2	218662282	C	T	C218662282T	BCS1L	NM_001079866.2(BCS1L):c.719+22C>T	noncoding	Benign
2	218662909	C	T	C218662909T	BCS1L	NM_001079866.2(BCS1L):c.916C>T:p.Arg306Cys	coding	Pathogenic
2	218662910	G	A	G218662910A	BCS1L	NM_001079866.2(BCS1L):c.917G>A:p.Arg306His	coding	Pathogenic
2	218672501	G	A	G218672501A	STK36	NM_015690.5(STK36):c.-89-240G>A	noncoding	Benign
2	218672514	A	T	A218672514T	STK36	NM_015690.5(STK36):c.-89-227A>T	noncoding	Benign
2	218674076	A	C	A218674076C	STK36	NM_015690.5(STK36):c.303+120A>C	noncoding	Benign
2	218675267	A	G	A218675267G	STK36	NM_015690.5(STK36):c.304-76A>G	noncoding	Benign
2	218676333	T	C	T218676333C	STK36	NM_015690.5(STK36):c.684+55T>C	noncoding	Benign
2	218676388	C	T	C218676388T	STK36	NM_015690.5(STK36):c.684+110C>T	noncoding	Benign
2	218679665	A	G	A218679665G	STK36	NM_015690.5(STK36):c.884A>G:p.Lys295Arg	coding	Benign
2	218680468	G	T	G218680468T	STK36	NM_015690.5(STK36):c.1137-135G>T	noncoding	Benign
2	218680586	T	C	T218680586C	STK36	NM_015690.5(STK36):c.1137-17T>C	noncoding	Benign
2	218688515	T	C	T218688515C	STK36	NM_015690.5(STK36):c.1381-182T>C	noncoding	Benign
2	218688609	A	G	A218688609G	STK36	NM_015690.5(STK36):c.1381-88A>G	noncoding	Benign
2	218688745	C	T	C218688745T	STK36	NM_015690.5(STK36):c.1429C>T:p.Arg477Trp	coding	Benign
2	218688780	T	C	T218688780C	STK36	NM_015690.5(STK36):c.1464T>C:p.Asp488=	coding	Benign
2	218688998	G	A	G218688998A	STK36	NM_015690.5(STK36):c.1560+122G>A	noncoding	Benign
2	218690569	A	G	A218690569G	STK36	NM_015690.5(STK36):c.1764+14A>G	noncoding	Benign
2	218690680	C	T	C218690680T	STK36	NM_015690.5(STK36):c.1764+125C>T	noncoding	Benign
2	218692291	A	C	A218692291C	STK36	NM_015690.5(STK36):c.1913A>C:p.Gln638Pro	coding	Benign
2	218692756	A	G	A218692756G	STK36	NM_015690.5(STK36):c.2043+46A>G	noncoding	Benign
2	218692938	G	T	G218692938T	STK36	NM_015690.5(STK36):c.2043+228G>T	noncoding	Benign
2	218693015	G	A	G218693015A	STK36	NM_015690.5(STK36):c.2044-225G>A	noncoding	Benign
2	218693470	C	G	C218693470G	STK36	NM_015690.5(STK36):c.2148+126C>G	noncoding	Benign
2	218696418	G	A	G218696418A	STK36	NM_015690.5(STK36):c.2512-109G>A	noncoding	Benign
2	218696991	T	C	T218696991C	STK36	NM_015690.5(STK36):c.2587-48T>C	noncoding	Benign
2	218697206	T	C	T218697206C	STK36	NM_015690.5(STK36):c.2754T>C:p.Ser918=	coding	Benign
2	218697954	G	A	G218697954A	STK36	NM_015690.5(STK36):c.3010G>A:p.Val1004Ile	coding	Benign
2	218698773	T	C	T218698773C	STK36	NM_015690.5(STK36):c.3229T>C:p.Leu1077=	coding	Benign
2	218698781	C	T	C218698781T	STK36	NM_015690.5(STK36):c.3237C>T:p.Ser1079=	coding	Benign
2	218698879	G	A	G218698879A	STK36	NM_015690.5(STK36):c.3335G>A:p.Arg1112Gln	coding	Benign
2	218699235	T	G	T218699235G	STK36	NM_015690.5(STK36):c.3691T>G:p.Cys1231Gly	coding	Benign
2	218782214	G	A	G218782214A	CYP27A1	NM_000784.4(CYP27A1):c.32G>A:p.Trp11Ter	coding	Pathogenic
2	218782435	C	T	C218782435T	CYP27A1	NM_000784.4(CYP27A1):c.253C>T:p.Gln85Ter	coding	Pathogenic
2	218782732	A	G	A218782732G	CYP27A1	NM_000784.4(CYP27A1):c.255+295A>G	noncoding	Benign
2	218782764	G	A	G218782764A	CYP27A1	NM_000784.4(CYP27A1):c.255+327G>A	noncoding	Benign
2	218809281	G	T	G218809281T	CYP27A1	NM_000784.4(CYP27A1):c.256-296G>T	noncoding	Benign
2	218809427	A	C	A218809427C	CYP27A1	NM_000784.4(CYP27A1):c.256-150A>C	noncoding	Benign
2	218809438	T	C	T218809438C	CYP27A1	NM_000784.4(CYP27A1):c.256-139T>C	noncoding	Benign
2	218809439	G	A	G218809439A	CYP27A1	NM_000784.4(CYP27A1):c.256-138G>A	noncoding	Benign
2	218809440	C	T	C218809440T	CYP27A1	NM_000784.4(CYP27A1):c.256-137C>T	noncoding	Benign
2	218809441	C	A	C218809441A	CYP27A1	NM_000784.4(CYP27A1):c.256-136C>A	noncoding	Benign
2	218809441	C	T	C218809441T	CYP27A1	NM_000784.4(CYP27A1):c.256-136C>T	noncoding	Benign
2	218809679	C	T	C218809679T	CYP27A1	NM_000784.4(CYP27A1):c.358C>T:p.Gln120Ter	coding	Pathogenic/Likely_pathogenic
2	218809719	G	A	G218809719A	CYP27A1	NM_000784.4(CYP27A1):c.398G>A:p.Trp133Ter	coding	Pathogenic/Likely_pathogenic
2	218812418	G	T	G218812418T	CYP27A1	NM_000784.4(CYP27A1):c.643G>T:p.Glu215Ter	coding	Pathogenic
2	218812650	C	T	C218812650T	CYP27A1	NM_000784.4(CYP27A1):c.745C>T:p.Gln249Ter	coding	Pathogenic/Likely_pathogenic
2	218812708	G	A	G218812708A	CYP27A1	NM_000784.4(CYP27A1):c.803G>A:p.Trp268Ter	coding	Pathogenic/Likely_pathogenic
2	218812718	C	G	C218812718G	CYP27A1	NM_000784.4(CYP27A1):c.813C>G:p.Tyr271Ter	coding	Pathogenic
2	218813034	C	T	C218813034T	CYP27A1	NM_000784.4(CYP27A1):c.955C>T:p.Gln319Ter	coding	Pathogenic/Likely_pathogenic
2	218814090	G	T	G218814090T	CYP27A1	NM_000784.4(CYP27A1):c.1087G>T:p.Glu363Ter	coding	Pathogenic
2	218814187	G	A	G218814187A	CYP27A1	NM_000784.4(CYP27A1):c.1184G>A:p.Arg395His	coding	Pathogenic/Likely_pathogenic
2	218814242	A	C	A218814242C	CYP27A1	NM_000784.4(CYP27A1):c.1184+55A>C	noncoding	Benign
2	218814386	C	A	C218814386A	CYP27A1	NM_000784.4(CYP27A1):c.1191C>A:p.Tyr397Ter	coding	Pathogenic
2	218814460	T	C	T218814460C	CYP27A1	NM_000784.4(CYP27A1):c.1263+2T>C	noncoding	Pathogenic/Likely_pathogenic
2	218814614	C	T	C218814614T	CYP27A1	NM_000784.4(CYP27A1):c.1333C>T:p.Gln445Ter	coding	Pathogenic
2	218814716	C	A	C218814716A	CYP27A1	NM_000784.4(CYP27A1):c.1435C>A:p.Arg479Ser	coding	Pathogenic
2	218814759	T	C	T218814759C	CYP27A1	NM_000784.4(CYP27A1):c.1476+2T>C	noncoding	Pathogenic
2	218882105	T	C	T218882105C	WNT10A	NM_025216.3(WNT10A):c.114-56T>C	noncoding	Benign
2	218882330	G	A	G218882330A	WNT10A	NM_025216.3(WNT10A):c.283G>A:p.Glu95Lys	coding	Pathogenic/Likely_pathogenic
2	218882362	G	A	G218882362A	WNT10A	NM_025216.3(WNT10A):c.315G>A:p.Trp105Ter	coding	Pathogenic
2	218882401	T	A	T218882401A	WNT10A	NM_025216.3(WNT10A):c.354T>A:p.Tyr118Ter	coding	Pathogenic
2	218882424	G	A	G218882424A	WNT10A	NM_025216.3(WNT10A):c.376+1G>A	coding	Pathogenic
2	218890097	C	T	C218890097T	WNT10A	NM_025216.3(WNT10A):c.490C>T:p.Arg164Ter	coding	Pathogenic
2	218890234	G	A	G218890234A	WNT10A	NM_025216.3(WNT10A):c.627G>A:p.Trp209Ter	coding	Pathogenic
2	218892848	G	C	G218892848C	WNT10A	NM_025216.3(WNT10A):c.831G>C:p.Trp277Cys	coding	Pathogenic/Likely_pathogenic
2	218892849	C	T	C218892849T	WNT10A	NM_025216.3(WNT10A):c.832C>T:p.Gln278Ter	coding	Pathogenic
2	218991010	A	G	A218991010G	CRYBA2	NM_057093.2(CRYBA2):c.304-16T>C	noncoding	Benign
2	218991975	T	C	T218991975C	CRYBA2	NM_057093.2(CRYBA2):c.303+127A>G	noncoding	Benign
2	219056100	C	T	C219056100T	IHH	NM_002181.4(IHH):c.578-235G>A	noncoding	Benign
2	219057334	C	A	C219057334A	IHH	NM_002181.4(IHH):c.577+99G>T	noncoding	Benign
2	219057847	C	A	C219057847A	IHH	NM_002181.4(IHH):c.316-153G>T	noncoding	Benign
2	219057920	A	G	A219057920G	IHH	NM_002181.4(IHH):c.316-226T>C	noncoding	Benign
2	219076224	G	A	G219076224A	NHEJ1	NM_024782.3(NHEJ1):c.*157C>T	noncoding	Benign
2	219076341	G	A	G219076341A	NHEJ1	NM_024782.3(NHEJ1):c.*40C>T	noncoding	Benign
2	219076468	G	A	G219076468A	NHEJ1	NM_024782.3(NHEJ1):c.826-13C>T	noncoding	Benign
2	219076505	G	A	G219076505A	NHEJ1	NM_024782.3(NHEJ1):c.826-50C>T	noncoding	Benign
2	219076555	G	A	G219076555A	NHEJ1	NM_024782.3(NHEJ1):c.826-100C>T	noncoding	Benign
2	219076642	C	A	C219076642A	NHEJ1	NM_024782.3(NHEJ1):c.826-187G>T	noncoding	Benign
2	219076956	T	C	T219076956C	NHEJ1	NM_024782.3(NHEJ1):c.825+290A>G	noncoding	Benign
2	219077145	T	C	T219077145C	NHEJ1	NM_024782.3(NHEJ1):c.825+101A>G	noncoding	Benign
2	219078259	G	A	G219078259A	NHEJ1	NM_024782.3(NHEJ1):c.589-53C>T	noncoding	Benign
2	219078283	C	T	C219078283T	NHEJ1	NM_024782.3(NHEJ1):c.589-77G>A	noncoding	Benign
2	219078410	A	G	A219078410G	NHEJ1	NM_024782.3(NHEJ1):c.589-204T>C	noncoding	Benign
2	219147745	C	T	C219147745T	NHEJ1	NM_024782.3(NHEJ1):c.441G>A:p.Gln147=	coding	Benign
2	219147854	G	C	G219147854C	NHEJ1	NM_024782.3(NHEJ1):c.391-59C>G	noncoding	Benign
2	219157352	A	G	A219157352G	NHEJ1	NM_024782.3(NHEJ1):c.390+120T>C	noncoding	Benign
2	219157454	C	T	C219157454T	NHEJ1	NM_024782.3(NHEJ1):c.390+18G>A	noncoding	Benign
2	219157713	G	C	G219157713C	NHEJ1	NM_024782.3(NHEJ1):c.178-29C>G	noncoding	Benign
2	219157995	A	T	A219157995T	NHEJ1	NM_024782.3(NHEJ1):c.177+191T>A	noncoding	Benign
2	219157997	A	T	A219157997T	NHEJ1	NM_024782.3(NHEJ1):c.177+189T>A	noncoding	Benign
2	219158229	C	T	C219158229T	NHEJ1	NM_024782.3(NHEJ1):c.134G>A:p.Trp45Ter	coding	Pathogenic
2	219158474	A	C	A219158474C	NHEJ1	NM_024782.3(NHEJ1):c.1-112T>G	noncoding	Benign
2	219209720	T	C	T219209720C	ABCB6	Single_allele	noncoding	Benign
2	219210071	T	A	T219210071A	ABCB6	NM_005689.4(ABCB6):c.2421-25A>T	noncoding	Benign
2	219210125	G	A	G219210125A	ABCB6	NM_005689.4(ABCB6):c.2421-79C>T	noncoding	Benign
2	219210323	T	C	T219210323C	ABCB6	NM_005689.4(ABCB6):c.2352-25A>G	noncoding	Benign
2	219210782	C	T	C219210782T	ABCB6	NM_005689.4(ABCB6):c.2185G>A:p.Gly729Ser	coding	Benign
2	219212683	G	A	G219212683A	ABCB6	NM_005689.4(ABCB6):c.1864-192C>T	noncoding	Benign
2	219213774	T	C	T219213774C	ABCB6	NM_005689.4(ABCB6):c.1578+52A>G	noncoding	Benign
2	219213842	G	C	G219213842C	ABCB6	NM_005689.4(ABCB6):c.1562C>G:p.Thr521Ser	coding	Benign/Likely_benign
2	219213893	A	G	A219213893G	ABCB6	NM_005689.4(ABCB6):c.1511T>C:p.Val504Ala	coding	Benign
2	219213930	C	T	C219213930T	ABCB6	NM_005689.4(ABCB6):c.1474G>A:p.Ala492Thr	coding	Benign/Likely_benign
2	219216123	C	T	C219216123T	ABCB6	NM_005689.4(ABCB6):c.1028G>A:p.Arg343Gln	coding	Benign
2	219217782	C	T	C219217782T	ABCB6	NM_005689.4(ABCB6):c.575G>A:p.Arg192Gln	coding	Benign/Likely_benign
2	219217783	G	A	G219217783A	ABCB6	NM_005689.4(ABCB6):c.574C>T:p.Arg192Trp	coding	Benign/Likely_benign
2	219218053	G	C	G219218053C	ABCB6	NM_005689.4(ABCB6):c.549+72C>G	noncoding	Benign
2	219218557	C	T	C219218557T	ABCB6	NM_005689.4(ABCB6):c.117G>A:p.Leu39=	coding	Benign
2	219218731	G	T	G219218731T	ABCB6	NM_005689.4(ABCB6):c.-58C>A	noncoding	Benign
2	219218933	C	T	C219218933T	ABCB6	NM_005689.4(ABCB6):c.-260G>A	noncoding	Benign
2	219219092	A	G	A219219092G	ABCB6	Single_allele	noncoding	Benign
2	219231952	A	C	A219231952C	ANKZF1	NM_018089.3(ANKZF1):c.173A>C:p.Glu58Ala	coding	Benign
2	219231959	G	A	G219231959A	ANKZF1	NM_018089.3(ANKZF1):c.180G>A:p.Lys60=	coding	Benign
2	219232378	G	A	G219232378A	ANKZF1	NM_018089.3(ANKZF1):c.364+16G>A	noncoding	Benign
2	219232535	G	C	G219232535C	ANKZF1	NM_018089.3(ANKZF1):c.410G>C:p.Ser137Thr	coding	Benign
2	219232700	G	A	G219232700A	ANKZF1	NM_018089.3(ANKZF1):c.558+17G>A	noncoding	Benign
2	219233784	C	T	C219233784T	ANKZF1	NM_018089.3(ANKZF1):c.889C>T:p.Arg297Cys	coding	Benign
2	219234127	T	C	T219234127C	ANKZF1	NM_018089.3(ANKZF1):c.1049-6T>C	noncoding	Benign
2	219235479	C	G	C219235479G	ANKZF1	NM_018089.3(ANKZF1):c.1697C>G:p.Ser566Cys	coding	Benign
2	219235487	C	T	C219235487T	ANKZF1	NM_018089.3(ANKZF1):c.1705C>T:p.Arg569Trp	coding	Benign
2	219235507	G	A	G219235507A	ANKZF1	NM_018089.3(ANKZF1):c.1725G>A:p.Ala575=	coding	Benign
2	219235536	G	A	G219235536A	ANKZF1	NM_018089.3(ANKZF1):c.1754G>A:p.Arg585Gln	coding	Benign
2	219235691	T	C	T219235691C	ANKZF1	NM_018089.3(ANKZF1):c.1804-17T>C	noncoding	Benign
2	219235831	C	A	C219235831A	ANKZF1	NM_018089.3(ANKZF1):c.1927C>A:p.Arg643=	coding	Benign
2	219235866	C	T	C219235866T	ANKZF1	NM_018089.3(ANKZF1):c.1962C>T:p.Asp654=	coding	Benign
2	219236065	C	T	C219236065T	ANKZF1	NM_018089.3(ANKZF1):c.2027C>T:p.Pro676Leu	coding	Benign
2	219250304	C	T	C219250304T	TUBA4A	NM_006000.3(TUBA4A):c.*48G>A	noncoding	Benign
2	219250544	G	A	G219250544A	TUBA4A	NM_006000.3(TUBA4A):c.1155C>T:p.Ala385=	coding	Benign
2	219251670	C	T	C219251670T	TUBA4A	NM_006000.3(TUBA4A):c.270G>A:p.Glu90=	coding	Benign
2	219251787	G	T	G219251787T	TUBA4A	NM_006000.3(TUBA4A):c.227-74C>A	noncoding	Benign
2	219252322	A	G	A219252322G	TUBA4A	NM_006000.3(TUBA4A):c.4-92T>C	noncoding	Benign
2	219252542	C	G	C219252542G	TUBA4A	NM_006000.3(TUBA4A):c.4-312G>C	noncoding	Benign
2	219253809	G	C	G219253809C	TUBA4A	NM_006000.3(TUBA4A):c.3+47C>G	noncoding	Benign
2	219254060	T	G	T219254060G	TUBA4A	NM_001355221.1(TUBA4B):c.12+641T>G	noncoding	Benign
2	219254253	G	T	G219254253T	TUBA4A	NM_001355221.1(TUBA4B):c.12+834G>T	noncoding	Benign
2	219279325	C	A	C219279325A	DNAJB2	Single_allele	noncoding	Benign
2	219279800	C	A	C219279800A	DNAJB2	NM_006736.6(DNAJB2):c.-34C>A	noncoding	Benign
2	219279913	A	T	A219279913T	DNAJB2	NM_006736.6(DNAJB2):c.65+15A>T	noncoding	Benign
2	219281746	T	G	T219281746G	DNAJB2	NM_006736.6(DNAJB2):c.204T>G:p.Tyr68Ter	coding	Pathogenic
2	219281773	T	A	T219281773A	DNAJB2	NM_006736.6(DNAJB2):c.229+2T>A	noncoding	Pathogenic
2	219286059	G	A	G219286059A	DNAJB2	NM_006736.6(DNAJB2):c.*1072G>A	noncoding	Benign
2	219286254	C	T	C219286254T	DNAJB2	NM_006736.6(DNAJB2):c.*1267C>T	noncoding	Benign
2	219418370	G	T	G219418370T	DES	Single_allele	noncoding	Benign
2	219418809	A	G	A219418809G	DES	NM_001927.4(DES):c.347A>G:p.Asn116Ser	coding	Pathogenic/Likely_pathogenic
2	219418885	C	T	C219418885T	DES	NM_001927.4(DES):c.423C>T:p.Asn141=	coding	Benign/Likely_benign
2	219418892	A	T	A219418892T	DES	NM_001927.4(DES):c.430A>T:p.Lys144Ter	coding	Pathogenic
2	219419104	T	G	T219419104G	DES	NM_001927.4(DES):c.578+64T>G	noncoding	Benign
2	219419995	G	C	G219419995C	DES	NM_001927.4(DES):c.579-100G>C	noncoding	Benign
2	219420115	T	A	T219420115A	DES	NM_001927.4(DES):c.599T>A:p.Leu200Ter	coding	Pathogenic
2	219420249	A	C	A219420249C	DES	NM_001927.4(DES):c.640-2A>C	noncoding	Pathogenic
2	219420249	A	T	A219420249T	DES	NM_001927.4(DES):c.640-2A>T	noncoding	Pathogenic
2	219420250	G	A	G219420250A	DES	NM_001927.4(DES):c.640-1G>A	noncoding	Pathogenic
2	219420310	C	T	C219420310T	DES	NM_001927.4(DES):c.699C>T:p.Asn233=	coding	Benign/Likely_benign
2	219420311	G	T	G219420311T	DES	NM_001927.4(DES):c.700G>T:p.Glu234Ter	coding	Pathogenic
2	219420360	C	T	C219420360T	DES	NM_001927.4(DES):c.735+14C>T	noncoding	Benign/Likely_benign
2	219420516	C	T	C219420516T	DES	NM_001927.4(DES):c.757C>T:p.Gln253Ter	coding	Pathogenic
2	219420644	G	A	G219420644A	DES	NM_001927.4(DES):c.885G>A:p.Trp295Ter	coding	Pathogenic/Likely_pathogenic
2	219420903	C	T	C219420903T	DES	NM_001927.4(DES):c.973C>T:p.Arg325Ter	coding	Pathogenic/Likely_pathogenic
2	219421406	C	T	C219421406T	DES	NM_001927.4(DES):c.1090C>T:p.Gln364Ter	coding	Pathogenic
2	219424922	G	A	G219424922A	DES	NM_001927.4(DES):c.1289-741G>A	noncoding	Pathogenic
2	219425720	A	C	A219425720C	DES	NM_001927.4(DES):c.1346A>C:p.Lys449Thr	coding	Pathogenic/Likely_pathogenic
2	219434819	G	T	G219434819T	SPEG	Single_allele	noncoding	Benign
2	219444963	G	A	G219444963A	SPEG	NM_005876.5(SPEG):c.617G>A:p.Arg206His	coding	Benign
2	219448778	C	G	C219448778G	SPEG	NM_005876.5(SPEG):c.1620C>G:p.Ser540=	coding	Benign
2	219449229	C	T	C219449229T	SPEG	NM_005876.5(SPEG):c.2071C>T:p.Gln691Ter	coding	Pathogenic
2	219451116	G	A	G219451116A	SPEG	NM_005876.5(SPEG):c.2114-20G>A	noncoding	Benign
2	219451248	G	A	G219451248A	SPEG	NM_005876.5(SPEG):c.2226G>A:p.Lys742=	coding	Benign
2	219451317	G	A	G219451317A	SPEG	NM_005876.5(SPEG):c.2257+38G>A	noncoding	Benign
2	219451857	C	T	C219451857T	SPEG	NM_005876.5(SPEG):c.2440+50C>T	noncoding	Benign
2	219462540	C	T	C219462540T	SPEG	NM_005876.5(SPEG):c.2705+154C>T	noncoding	Benign
2	219466002	C	T	C219466002T	SPEG	NM_005876.5(SPEG):c.2882-1172C>T	noncoding	Benign
2	219466082	T	C	T219466082C	SPEG	NM_005876.5(SPEG):c.2882-1092T>C	coding	Benign
2	219466254	C	A	C219466254A	SPEG	NM_005876.5(SPEG):c.2882-920C>A	coding	Benign
2	219467189	G	A	G219467189A	SPEG	NM_005876.5(SPEG):c.2897G>A:p.Arg966Gln	coding	Benign
2	219469186	C	T	C219469186T	SPEG	NM_005876.5(SPEG):c.3522C>T:p.Pro1174=	coding	Benign
2	219469192	G	A	G219469192A	SPEG	NM_005876.5(SPEG):c.3528G>A:p.Glu1176=	coding	Benign
2	219469228	T	C	T219469228C	SPEG	NM_005876.5(SPEG):c.3564T>C:p.Pro1188=	coding	Benign
2	219469376	C	T	C219469376T	SPEG	NM_005876.5(SPEG):c.3712C>T:p.Gln1238Ter	coding	Pathogenic
2	219471736	T	C	T219471736C	SPEG	NM_005876.5(SPEG):c.3716-132T>C	noncoding	Benign
2	219471795	C	T	C219471795T	SPEG	NM_005876.5(SPEG):c.3716-73C>T	noncoding	Benign
2	219472001	C	T	C219472001T	SPEG	NM_005876.5(SPEG):c.3835+14C>T	noncoding	Benign
2	219472319	G	A	G219472319A	SPEG	NM_005876.5(SPEG):c.3928G>A:p.Asp1310Asn	coding	Benign
2	219472474	G	A	G219472474A	SPEG	NM_005876.5(SPEG):c.3940+143G>A	noncoding	Benign
2	219473105	G	T	G219473105T	SPEG	NM_005876.5(SPEG):c.4147+9G>T	noncoding	Benign
2	219473343	T	C	T219473343C	SPEG	NM_005876.5(SPEG):c.4148-161T>C	noncoding	Benign
2	219477461	G	A	G219477461A	SPEG	NM_005876.5(SPEG):c.4729+16G>A	noncoding	Benign
2	219480752	T	A	T219480752A	SPEG	NM_005876.5(SPEG):c.5369+55T>A	noncoding	Benign
2	219481874	C	T	C219481874T	SPEG	NM_005876.5(SPEG):c.5565+194C>T	noncoding	Benign
2	219483145	C	T	C219483145T	SPEG	NM_005876.5(SPEG):c.5682C>T:p.Pro1894=	coding	Benign
2	219483706	T	C	T219483706C	SPEG	NM_005876.5(SPEG):c.6243T>C:p.Asp2081=	coding	Benign
2	219485327	C	A	C219485327A	SPEG	NM_005876.5(SPEG):c.7610-19C>A	noncoding	Benign
2	219486867	G	A	G219486867A	ASIC4-AS1;SPEG	NM_005876.5(SPEG):c.7742-1327G>A	noncoding	Benign
2	219488291	G	A	G219488291A	SPEG	NM_005876.5(SPEG):c.7839G>A:p.Pro2613=	coding	Benign
2	219488382	A	G	A219488382G	SPEG	NM_005876.5(SPEG):c.7858+72A>G	noncoding	Benign
2	219488439	G	C	G219488439C	SPEG	NM_005876.5(SPEG):c.7859-59G>C	noncoding	Benign
2	219488718	G	T	G219488718T	SPEG	NM_005876.5(SPEG):c.8026+53G>T	noncoding	Benign
2	219488810	C	A	C219488810A	SPEG	NM_005876.5(SPEG):c.8059C>A:p.Pro2687Thr	coding	Benign
2	219488830	G	A	G219488830A	SPEG	NM_005876.5(SPEG):c.8079G>A:p.Thr2693=	coding	Benign
2	219489236	A	G	A219489236G	SPEG	NM_005876.5(SPEG):c.8317+15A>G	noncoding	Benign
2	219489386	A	G	A219489386G	SPEG	NM_005876.5(SPEG):c.8368A>G:p.Arg2790Gly	coding	Benign
2	219489643	C	T	C219489643T	SPEG	NM_005876.5(SPEG):c.8625C>T:p.Phe2875=	coding	Benign
2	219489820	G	A	G219489820A	SPEG	NM_005876.5(SPEG):c.8802G>A:p.Pro2934=	coding	Benign
2	219489857	C	T	C219489857T	SPEG	NM_005876.5(SPEG):c.8839C>T:p.Arg2947Ter	coding	Pathogenic
2	219490035	G	C	G219490035C	SPEG	NM_005876.5(SPEG):c.8921+96G>C	noncoding	Benign
2	219490349	C	T	C219490349T	SPEG	NM_005876.5(SPEG):c.8922-60C>T	noncoding	Benign
2	219490413	C	A	C219490413A	SPEG	NM_005876.5(SPEG):c.8926C>A:p.Arg2976Ser	coding	Benign
2	219490721	C	T	C219490721T	SPEG	NM_005876.5(SPEG):c.9162-12C>T	noncoding	Benign
2	219490754	C	T	C219490754T	SPEG	NM_005876.5(SPEG):c.9183C>T:p.Asp3061=	coding	Benign
2	219490901	C	T	C219490901T	SPEG	NM_005876.5(SPEG):c.9330C>T:p.Tyr3110=	coding	Benign
2	219491727	G	C	G219491727C	SPEG	NM_005876.5(SPEG):c.9386-67G>C	noncoding	Benign
2	219491798	G	T	G219491798T	SPEG	NM_005876.5(SPEG):c.9390G>T:p.Pro3130=	coding	Benign
2	219491910	C	T	C219491910T	SPEG	NM_005876.5(SPEG):c.9461+41C>T	noncoding	Benign
2	219492084	C	T	C219492084T	SPEG	NM_005876.5(SPEG):c.9462-27C>T	noncoding	Benign
2	219492129	G	A	G219492129A	SPEG	NM_005876.5(SPEG):c.9480G>A:p.Pro3160=	coding	Benign
2	219492872	C	A	C219492872A	SPEG	NM_005876.5(SPEG):c.*86C>A	noncoding	Benign
2	219498752	G	T	G219498752T	GMPPA	Single_allele	noncoding	Benign
2	219498766	A	G	A219498766G	GMPPA	Single_allele	noncoding	Benign
2	219499236	T	C	T219499236C	GMPPA	NM_013335.4(GMPPA):c.-21+298T>C	noncoding	Benign
2	219501598	G	A	G219501598A	GMPPA	NM_013335.4(GMPPA):c.242+19G>A	noncoding	Benign
2	219502231	G	C	G219502231C	GMPPA	NM_013335.4(GMPPA):c.430-151G>C	noncoding	Benign
2	219504278	G	A	G219504278A	GMPPA	NM_013335.4(GMPPA):c.620+65G>A	noncoding	Benign
2	219504498	A	G	A219504498G	GMPPA	NM_013335.4(GMPPA):c.620+285A>G	noncoding	Benign
2	219505032	C	T	C219505032T	GMPPA	NM_013335.4(GMPPA):c.621-196C>T	noncoding	Benign
2	219505249	G	A	G219505249A	GMPPA	NM_013335.4(GMPPA):c.642G>A:p.Trp214Ter	coding	Pathogenic
2	219505877	G	T	G219505877T	GMPPA	NM_013335.4(GMPPA):c.901-103G>T	noncoding	Benign
2	219506356	C	T	C219506356T	GMPPA	NM_013335.4(GMPPA):c.1096C>T:p.Arg366Ter	coding	Pathogenic
2	219506378	G	C	G219506378C	GMPPA	NM_013335.4(GMPPA):c.1118G>C:p.Ser373Thr	coding	Pathogenic
2	219506459	T	A	T219506459A	GMPPA	NM_013335.4(GMPPA):c.1162+37T>A	noncoding	Benign
2	219550924	T	C	T219550924C	OBSL1	NM_015311.3(OBSL1):c.5684-82A>G	noncoding	Benign
2	219550995	G	A	G219550995A	OBSL1	NM_015311.3(OBSL1):c.5684-153C>T	noncoding	Benign
2	219551030	C	T	C219551030T	OBSL1	NM_015311.3(OBSL1):c.5684-188G>A	noncoding	Benign
2	219551112	A	G	A219551112G	OBSL1	NM_015311.3(OBSL1):c.5684-270T>C	noncoding	Benign
2	219551442	T	C	T219551442C	OBSL1	NM_015311.3(OBSL1):c.5683+87A>G	noncoding	Benign
2	219551848	C	T	C219551848T	OBSL1	NM_015311.3(OBSL1):c.5414-50G>A	noncoding	Benign
2	219551869	C	T	C219551869T	OBSL1	NM_015311.3(OBSL1):c.5414-71G>A	noncoding	Benign
2	219552081	A	T	A219552081T	OBSL1	NM_015311.3(OBSL1):c.5413+31T>A	noncoding	Benign
2	219552245	C	T	C219552245T	OBSL1	NM_015311.3(OBSL1):c.5309-29G>A	noncoding	Benign
2	219552506	G	T	G219552506T	OBSL1	NM_015311.3(OBSL1):c.5308+30C>A	noncoding	Benign
2	219552524	A	C	A219552524C	OBSL1	NM_015311.3(OBSL1):c.5308+12T>G	noncoding	Benign/Likely_benign
2	219553189	T	C	T219553189C	OBSL1	NM_015311.3(OBSL1):c.4990-165A>G	noncoding	Benign
2	219553834	C	G	C219553834G	OBSL1	NM_015311.3(OBSL1):c.4877-148G>C	noncoding	Benign
2	219554511	C	T	C219554511T	OBSL1	NM_015311.3(OBSL1):c.4839G>A:p.Ala1613=	coding	Benign
2	219554831	C	T	C219554831T	OBSL1	NM_015311.3(OBSL1):c.4610-91G>A	noncoding	Benign
2	219554947	G	A	G219554947A	OBSL1	NM_015311.3(OBSL1):c.4610-207C>T	noncoding	Benign
2	219554987	A	G	A219554987G	OBSL1	NM_015311.3(OBSL1):c.4610-247T>C	noncoding	Benign
2	219555831	C	T	C219555831T	OBSL1	NM_015311.3(OBSL1):c.4609+189G>A	coding	Benign
2	219556096	A	C	A219556096C	OBSL1	NM_015311.3(OBSL1):c.4533T>G:p.Gly1511=	coding	Benign
2	219556757	A	G	A219556757G	OBSL1	NM_015311.3(OBSL1):c.4067-34T>C	noncoding	Benign
2	219556917	A	G	A219556917G	OBSL1	NM_015311.3(OBSL1):c.4067-194T>C	noncoding	Benign
2	219556964	A	T	A219556964T	OBSL1	NM_015311.3(OBSL1):c.4067-241T>A	noncoding	Benign
2	219557307	G	A	G219557307A	OBSL1	NM_015311.3(OBSL1):c.4066+36C>T	noncoding	Benign
2	219557350	G	A	G219557350A	OBSL1	NM_015311.3(OBSL1):c.4059C>T:p.Ser1353=	coding	Benign
2	219557380	C	T	C219557380T	OBSL1	NM_015311.3(OBSL1):c.4029G>A:p.Ala1343=	coding	Benign
2	219557593	G	A	G219557593A	OBSL1	NM_015311.3(OBSL1):c.3816C>T:p.Pro1272=	coding	Benign/Likely_benign
2	219557678	C	G	C219557678G	OBSL1	NM_015311.3(OBSL1):c.3791-60G>C	noncoding	Benign
2	219558645	C	T	C219558645T	OBSL1	NM_015311.3(OBSL1):c.3227-186G>A	noncoding	Benign
2	219558982	A	G	A219558982G	OBSL1	NM_015311.3(OBSL1):c.3226+243T>C	noncoding	Benign
2	219559047	C	G	C219559047G	OBSL1	NM_015311.3(OBSL1):c.3226+178G>C	noncoding	Benign
2	219559765	G	A	G219559765A	OBSL1	NM_015311.3(OBSL1):c.2954-268C>T	noncoding	Benign
2	219561641	C	G	C219561641G	OBSL1	NM_015311.3(OBSL1):c.2953+761G>C	noncoding	Benign
2	219561648	C	T	C219561648T	OBSL1	NM_015311.3(OBSL1):c.2953+754G>A	noncoding	Benign
2	219562958	C	T	C219562958T	OBSL1	NM_015311.3(OBSL1):c.2681-284G>A	noncoding	Benign
2	219563274	T	C	T219563274C	OBSL1	NM_015311.3(OBSL1):c.2680+81A>G	noncoding	Benign
2	219563343	C	T	C219563343T	OBSL1	NM_015311.3(OBSL1):c.2680+12G>A	noncoding	Benign
2	219563374	G	A	G219563374A	OBSL1	NM_015311.3(OBSL1):c.2661C>T:p.Tyr887=	coding	Benign
2	219563611	G	A	G219563611A	OBSL1	NM_015311.3(OBSL1):c.2424C>T:p.Ile808=	coding	Benign
2	219563659	A	T	A219563659T	OBSL1	NM_015311.3(OBSL1):c.2408-32T>A	noncoding	Benign
2	219563848	A	G	A219563848G	OBSL1	NM_015311.3(OBSL1):c.2408-221T>C	noncoding	Benign
2	219566736	A	C	A219566736C	OBSL1	NM_015311.3(OBSL1):c.2134+94T>G	noncoding	Benign
2	219567197	A	G	A219567197G	OBSL1	NM_015311.3(OBSL1):c.1838-71T>C	noncoding	Benign
2	219567373	G	T	G219567373T	OBSL1	NM_015311.3(OBSL1):c.1737C>A:p.Gly579=	coding	Benign
2	219567606	T	C	T219567606C	OBSL1	NM_015311.3(OBSL1):c.1535-31A>G	noncoding	Benign
2	219567825	G	T	G219567825T	OBSL1	NM_015311.3(OBSL1):c.1427C>A:p.Ser476Ter	coding	Pathogenic
2	219567979	G	A	G219567979A	OBSL1	NM_015311.3(OBSL1):c.1283-10C>T	noncoding	Benign
2	219567987	A	T	A219567987T	OBSL1	NM_015311.3(OBSL1):c.1283-18T>A	noncoding	Benign
2	219568391	T	C	T219568391C	OBSL1	NM_015311.3(OBSL1):c.1013-67A>G	noncoding	Benign
2	219570357	G	A	G219570357A	OBSL1	NM_015311.3(OBSL1):c.876C>T:p.Arg292=	coding	Benign
2	219571098	C	T	C219571098T	OBSL1	NM_015311.3(OBSL1):c.135G>A:p.Trp45Ter	coding	Pathogenic
2	219630445	A	C	A219630445C	SLC4A3	NM_005070.4(SLC4A3):c.811+93A>C	noncoding	Benign
2	219633628	G	C	G219633628C	SLC4A3	NM_005070.4(SLC4A3):c.1461+171G>C	noncoding	Benign
2	219635599	C	G	C219635599G	SLC4A3	NM_005070.4(SLC4A3):c.1973-74C>G	noncoding	Benign
2	219636108	G	C	G219636108C	SLC4A3	NM_005070.4(SLC4A3):c.2192-194G>C	noncoding	Benign
2	219640543	T	C	T219640543C	SLC4A3	NM_005070.4(SLC4A3):c.3391T>C:p.Leu1131=	coding	Benign
2	219640699	C	T	C219640699T	SLC4A3	NM_005070.4(SLC4A3):c.3448-90C>T	noncoding	Benign
2	219641800	G	A	G219641800A	SLC4A3	NM_005070.4(SLC4A3):c.*72G>A	noncoding	Benign
2	221426109	C	T	C221426109T	EPHA4	NM_004438.5(EPHA4):c.2880G>A:p.Thr960=	coding	Benign
2	221434304	G	A	G221434304A	EPHA4	NM_004438.5(EPHA4):c.2347-13C>T	noncoding	Benign
2	221436379	A	T	A221436379T	EPHA4	NM_004438.5(EPHA4):c.2346+20T>A	noncoding	Benign
2	221436386	C	G	C221436386G	EPHA4	NM_004438.5(EPHA4):c.2346+13G>C	noncoding	Benign
2	221442814	G	T	G221442814T	EPHA4	NM_004438.5(EPHA4):c.2074+15C>A	noncoding	Benign
2	221443506	T	C	T221443506C	EPHA4	NM_004438.5(EPHA4):c.1875A>G:p.Lys625=	coding	Benign
2	221501078	C	T	C221501078T	EPHA4	NM_004438.5(EPHA4):c.918G>A:p.Ser306=	coding	Benign
2	222201151	C	G	C222201151G	PAX3	NM_181458.4(PAX3):c.*257G>C	noncoding	Benign
2	222201233	G	A	G222201233A	PAX3	NM_181458.4(PAX3):c.*175C>T	coding	Pathogenic
2	222201518	G	A	G222201518A	PAX3	NM_181458.4(PAX3):c.1421-76C>T	noncoding	Benign
2	222220114	C	T	C222220114T	PAX3	NM_181458.4(PAX3):c.1173+26G>A	noncoding	Benign
2	222220928	C	T	C222220928T	PAX3	NM_181458.4(PAX3):c.958+294G>A	noncoding	Benign
2	222221225	G	A	G222221225A	PAX3	NM_181458.4(PAX3):c.955C>T:p.Gln319Ter	coding	Pathogenic
2	222221351	G	A	G222221351A	PAX3	NM_181458.4(PAX3):c.829C>T:p.Gln277Ter	coding	Pathogenic
2	222221383	C	T	C222221383T	PAX3	NM_181458.4(PAX3):c.797G>A:p.Trp266Ter	coding	Pathogenic
2	222231990	G	C	G222231990C	PAX3	NM_181458.4(PAX3):c.792+88C>G	noncoding	Benign
2	222232076	A	G	A222232076G	PAX3	NM_181458.4(PAX3):c.792+2T>C	noncoding	Pathogenic
2	222232157	A	G	A222232157G	PAX3	NM_181458.4(PAX3):c.713T>C:p.Phe238Ser	coding	Pathogenic
2	222232164	G	T	G222232164T	PAX3	NM_181458.4(PAX3):c.706C>A:p.Arg236Ser	coding	Pathogenic
2	222232199	G	A	G222232199A	PAX3	NM_181458.4(PAX3):c.671C>T:p.Thr224Ile	coding	Pathogenic
2	222232534	T	C	T222232534C	PAX3	NM_181458.4(PAX3):c.587-251A>G	noncoding	Benign
2	222294081	T	G	T222294081G	PAX3	NM_181458.4(PAX3):c.586+86A>C	coding	Benign
2	222294115	G	T	G222294115T	PAX3	NM_181458.4(PAX3):c.586+52C>A	coding	Benign/Likely_benign
2	222294165	A	T	A222294165T	PAX3	NM_181458.4(PAX3):c.586+2T>A	coding	Pathogenic
2	222294228	C	G	C222294228G	PAX3	NM_181458.4(PAX3):c.525G>C:p.Lys175Asn	coding	Benign/Likely_benign
2	222294400	C	A	C222294400A	PAX3	NM_181458.4(PAX3):c.452-99G>T	noncoding	Benign
2	222294536	G	T	G222294536T	PAX3	NM_181458.4(PAX3):c.452-235C>A	noncoding	Benign
2	222295399	G	T	G222295399T	PAX3	NM_181458.4(PAX3):c.451+129C>A	noncoding	Benign
2	222296905	A	G	A222296905G	PAX3	NM_181458.4(PAX3):c.321+73T>C	noncoding	Benign
2	222297058	C	G	C222297058G	PAX3	NM_181458.4(PAX3):c.241G>C:p.Gly81Arg	coding	Pathogenic
2	222297089	G	T	G222297089T	PAX3	NM_181458.4(PAX3):c.210C>A:p.Cys70Ter	coding	Pathogenic/Likely_pathogenic
2	222297115	T	C	T222297115C	PAX3	NM_181458.4(PAX3):c.184A>G:p.Met62Val	coding	Pathogenic
2	222297181	G	A	G222297181A	PAX3	NM_181458.4(PAX3):c.118C>T:p.Gln40Ter	coding	Pathogenic
2	222297215	T	C	T222297215C	PAX3	NM_181458.4(PAX3):c.86-2A>G	noncoding	Pathogenic/Likely_pathogenic
2	222297305	T	G	T222297305G	PAX3	NM_181458.4(PAX3):c.86-92A>C	noncoding	Benign
2	222299309	G	C	G222299309C	PAX3	Single_allele	noncoding	Benign
2	222571888	C	T	C222571888T	FARSB	NM_005687.5(FARSB):c.1753G>A:p.Val585Ile	coding	Benign
2	222572000	T	G	T222572000G	FARSB	NM_005687.5(FARSB):c.1641A>C:p.Arg547=	coding	Benign
2	222599911	C	T	C222599911T	FARSB	NM_005687.5(FARSB):c.1618+17G>A	noncoding	Benign
2	222623700	G	T	G222623700T	FARSB	NM_005687.5(FARSB):c.1201C>A:p.Arg401=	coding	Benign
2	222623734	A	G	A222623734G	FARSB	NM_005687.5(FARSB):c.1171-4T>C	noncoding	Benign
2	222624260	G	A	G222624260A	FARSB	NM_005687.5(FARSB):c.1170+12C>T	noncoding	Benign
2	222624703	T	C	T222624703C	FARSB	NM_005687.5(FARSB):c.962+11A>G	noncoding	Benign
2	222624767	A	G	A222624767G	FARSB	NM_005687.5(FARSB):c.909T>C:p.Ala303=	coding	Benign
2	222634537	T	C	T222634537C	FARSB	NM_005687.5(FARSB):c.460A>G:p.Arg154Gly	coding	Pathogenic
2	222639607	T	C	T222639607C	FARSB	NM_005687.5(FARSB):c.428A>G:p.Gln143Arg	coding	Benign
2	222640924	C	G	C222640924G	FARSB	NM_005687.5(FARSB):c.277G>C:p.Ala93Pro	coding	Benign
2	222648791	G	A	G222648791A	FARSB	NM_005687.5(FARSB):c.63C>T:p.Asp21=	coding	Benign
2	223775944	A	G	A223775944G	AP1S3	NM_001039569.2(AP1S3):c.248T>C:p.Ile83Thr	coding	Benign
2	223777776	G	A	G223777776A	AP1S3	NM_001039569.2(AP1S3):c.97C>T:p.Arg33Trp	coding	Benign/Likely_benign
2	223777862	A	C	A223777862C	AP1S3	NM_001039569.2(AP1S3):c.11T>G:p.Phe4Cys	coding	Benign
2	223957267	T	G	T223957267G	MRPL44	Single_allele	noncoding	Benign
2	223957326	C	G	C223957326G	MRPL44	Single_allele	noncoding	Benign
2	223957389	G	T	G223957389T	MRPL44	Single_allele	noncoding	Benign
2	223959587	G	A	G223959587A	MRPL44	NM_022915.5(MRPL44):c.233G>A:p.Arg78Gln	coding	Pathogenic
2	223959598	A	G	A223959598G	MRPL44	NM_022915.5(MRPL44):c.244A>G:p.Asn82Asp	coding	Benign
2	223960167	T	C	T223960167C	MRPL44	NM_022915.5(MRPL44):c.648+165T>C	noncoding	Benign
2	223966923	T	G	T223966923G	MRPL44	NM_022915.5(MRPL44):c.888T>G:p.Ala296=	coding	Benign/Likely_benign
2	223967036	C	T	C223967036T	MRPL44	NM_022915.5(MRPL44):c.*2C>T	noncoding	Benign
2	224473576	A	G	A224473576G	CUL3	NM_003590.5(CUL3):c.*669T>C	noncoding	Benign
2	224477880	A	T	A224477880T	CUL3	NM_003590.5(CUL3):c.2175+320T>A	noncoding	Benign
2	224478491	G	A	G224478491A	CUL3	NM_003590.5(CUL3):c.2030-146C>T	noncoding	Benign
2	224481660	A	G	A224481660G	CUL3	NM_003590.5(CUL3):c.2029+232T>C	noncoding	Benign
2	224482326	T	A	T224482326A	CUL3	NM_003590.5(CUL3):c.1843-248A>T	noncoding	Benign
2	224497824	G	A	G224497824A	CUL3	NM_003590.5(CUL3):c.1636C>T:p.Arg546Ter	coding	Pathogenic/Likely_pathogenic
2	224498081	A	G	A224498081G	CUL3	NM_003590.5(CUL3):c.1611-232T>C	noncoding	Benign
2	224500220	T	C	T224500220C	CUL3	NM_003590.5(CUL3):c.1610+143A>G	noncoding	Benign
2	224500339	A	G	A224500339G	CUL3	NM_003590.5(CUL3):c.1610+24T>C	noncoding	Benign
2	224503278	C	T	C224503278T	CUL3	NM_003590.5(CUL3):c.1378-206G>A	noncoding	Benign
2	224503279	C	G	C224503279G	CUL3	NM_003590.5(CUL3):c.1378-207G>C	noncoding	Benign
2	224503377	G	T	G224503377T	CUL3	NM_003590.5(CUL3):c.1377+275C>A	noncoding	Benign
2	224503604	A	G	A224503604G	CUL3	NM_003590.5(CUL3):c.1377+48T>C	noncoding	Benign
2	224505837	C	A	C224505837A	CUL3	NM_003590.5(CUL3):c.1206+119G>T	noncoding	Benign
2	224505955	C	A	C224505955A	CUL3	NM_003590.5(CUL3):c.1206+1G>T	noncoding	Pathogenic
2	224511177	G	A	G224511177A	CUL3	NM_003590.5(CUL3):c.883+177C>T	noncoding	Benign
2	224511315	G	C	G224511315C	CUL3	NM_003590.5(CUL3):c.883+39C>G	noncoding	Benign
2	224511317	G	A	G224511317A	CUL3	NM_003590.5(CUL3):c.883+37C>T	noncoding	Benign
2	224511353	C	A	C224511353A	CUL3	NM_003590.5(CUL3):c.883+1G>T	noncoding	Pathogenic
2	224511383	A	G	A224511383G	CUL3	NM_003590.5(CUL3):c.854T>C:p.Val285Ala	coding	Pathogenic
2	224511498	G	A	G224511498A	CUL3	NM_003590.5(CUL3):c.739C>T:p.Arg247Ter	coding	Pathogenic
2	224513582	G	C	G224513582C	CUL3	NM_003590.5(CUL3):c.596C>G:p.Ser199Ter	coding	Pathogenic
2	224513600	A	C	A224513600C	CUL3	NM_003590.5(CUL3):c.578T>G:p.Leu193Ter	coding	Pathogenic
2	224515016	T	C	T224515016C	CUL3	NM_003590.5(CUL3):c.379-244A>G	noncoding	Benign
2	224535798	T	A	T224535798A	CUL3	NM_003590.5(CUL3):c.265-157A>T	noncoding	Benign
2	224569539	C	G	C224569539G	CUL3	NM_003590.5(CUL3):c.67-11683G>C	noncoding	Benign
2	224585444	G	C	G224585444C	CUL3	Single_allele	noncoding	Benign
2	224585651	G	C	G224585651C	CUL3	Single_allele	noncoding	Benign
2	224585652	G	T	G224585652T	CUL3	Single_allele	noncoding	Benign
2	227007445	C	T	C227007445T	COL4A4	NM_000092.5(COL4A4):c.4953G>A:p.Trp1651Ter	coding	Pathogenic
2	227007901	A	G	A227007901G	COL4A4	NM_000092.5(COL4A4):c.4809+117T>C	noncoding	Benign
2	227008019	A	G	A227008019G	COL4A4	NM_000092.5(COL4A4):c.4808T>C:p.Met1603Thr	coding	Pathogenic
2	227008040	C	T	C227008040T	COL4A4	NM_000092.5(COL4A4):c.4787G>A:p.Trp1596Ter	coding	Pathogenic
2	227008107	G	A	G227008107A	COL4A4	NM_000092.5(COL4A4):c.4720C>T:p.Gln1574Ter	coding	Pathogenic
2	227008289	C	T	C227008289T	COL4A4	NM_000092.5(COL4A4):c.4538G>A:p.Cys1513Tyr	coding	Pathogenic
2	227010241	C	T	C227010241T	COL4A4	NM_000092.5(COL4A4):c.4522+72G>A	noncoding	Benign
2	227010409	G	A	G227010409A	COL4A4	NM_000092.5(COL4A4):c.4426C>T:p.Gln1476Ter	coding	Pathogenic
2	227010644	G	A	G227010644A	COL4A4	NM_000092.5(COL4A4):c.4334-143C>T	noncoding	Benign
2	227010653	T	A	T227010653A	COL4A4	NM_000092.5(COL4A4):c.4334-152A>T	noncoding	Benign
2	227011943	T	C	T227011943C	COL4A4	NM_000092.5(COL4A4):c.4333+238A>G	noncoding	Benign
2	227011971	G	A	G227011971A	COL4A4	NM_000092.5(COL4A4):c.4333+210C>T	noncoding	Benign
2	227012321	G	A	G227012321A	COL4A4	NM_000092.5(COL4A4):c.4217-24C>T	noncoding	Benign
2	227022209	C	T	C227022209T	COL4A4	NM_000092.5(COL4A4):c.4091-36G>A	noncoding	Benign
2	227025493	C	T	C227025493T	COL4A4	NM_000092.5(COL4A4):c.4090+309G>A	noncoding	Benign
2	227025567	A	T	A227025567T	COL4A4	NM_000092.5(COL4A4):c.4090+235T>A	noncoding	Benign
2	227027712	T	C	T227027712C	COL4A4	NM_000092.5(COL4A4):c.4081+190A>G	noncoding	Benign
2	227027782	A	G	A227027782G	COL4A4	NM_000092.5(COL4A4):c.4081+120T>C	noncoding	Benign
2	227027986	G	A	G227027986A	COL4A4	NM_000092.5(COL4A4):c.3997C>T:p.Gln1333Ter	coding	Pathogenic
2	227028301	G	A	G227028301A	COL4A4	NM_000092.5(COL4A4):c.3974-292C>T	noncoding	Benign
2	227030143	C	T	C227030143T	COL4A4	NM_000092.5(COL4A4):c.3973+300G>A	noncoding	Benign
2	227030409	A	G	A227030409G	COL4A4	NM_000092.5(COL4A4):c.3973+34T>C	noncoding	Benign
2	227030449	G	A	G227030449A	COL4A4	NM_000092.5(COL4A4):c.3967C>T:p.Gln1323Ter	coding	Pathogenic/Likely_pathogenic
2	227030613	G	A	G227030613A	COL4A4	NM_000092.5(COL4A4):c.3818-15C>T	noncoding	Benign/Likely_benign
2	227031614	C	T	C227031614T	COL4A4	NM_000092.5(COL4A4):c.3817+331G>A	noncoding	Benign
2	227031676	C	T	C227031676T	COL4A4	NM_000092.5(COL4A4):c.3817+269G>A	noncoding	Benign
2	227031707	C	G	C227031707G	COL4A4	NM_000092.5(COL4A4):c.3817+238G>C	noncoding	Benign
2	227031716	A	T	A227031716T	COL4A4	NM_000092.5(COL4A4):c.3817+229T>A	noncoding	Benign
2	227032360	A	G	A227032360G	COL4A4	NM_000092.5(COL4A4):c.3578-84T>C	noncoding	Benign
2	227033473	C	A	C227033473A	COL4A4	NM_000092.5(COL4A4):c.3514G>T:p.Gly1172Ter	coding	Pathogenic
2	227033602	C	T	C227033602T	COL4A4	NM_000092.5(COL4A4):c.3506-121G>A	noncoding	Benign
2	227033718	C	T	C227033718T	COL4A4	NM_000092.5(COL4A4):c.3506-237G>A	noncoding	Benign
2	227042911	G	T	G227042911T	COL4A4	NM_000092.5(COL4A4):c.3397+166C>A	noncoding	Benign
2	227047474	C	A	C227047474A	COL4A4	NM_000092.5(COL4A4):c.3289+1G>T	noncoding	Pathogenic/Likely_pathogenic
2	227047493	C	G	C227047493G	COL4A4	NM_000092.5(COL4A4):c.3271G>C:p.Gly1091Arg	coding	Pathogenic
2	227047615	G	A	G227047615A	COL4A4	NM_000092.5(COL4A4):c.3215-66C>T	noncoding	Benign
2	227047835	T	A	T227047835A	COL4A4	NM_000092.5(COL4A4):c.3215-286A>T	noncoding	Benign
2	227049768	T	C	T227049768C	COL4A4	NM_000092.5(COL4A4):c.3214+300A>G	noncoding	Benign
2	227049845	C	T	C227049845T	COL4A4	NM_000092.5(COL4A4):c.3214+223G>A	noncoding	Benign
2	227049909	T	C	T227049909C	COL4A4	NM_000092.5(COL4A4):c.3214+159A>G	noncoding	Benign
2	227049939	C	G	C227049939G	COL4A4	NM_000092.5(COL4A4):c.3214+129G>C	noncoding	Benign
2	227050067	C	A	C227050067A	COL4A4	NM_000092.5(COL4A4):c.3214+1G>T	noncoding	Pathogenic
2	227050077	C	G	C227050077G	COL4A4	NM_000092.5(COL4A4):c.3205G>C:p.Gly1069Arg	coding	Pathogenic
2	227050162	T	A	T227050162A	COL4A4	NM_000092.5(COL4A4):c.3151-31A>T	noncoding	Benign
2	227050259	T	G	T227050259G	COL4A4	NM_000092.5(COL4A4):c.3151-128A>C	noncoding	Benign
2	227050441	T	C	T227050441C	COL4A4	NM_000092.5(COL4A4):c.3151-310A>G	noncoding	Benign
2	227050885	G	T	G227050885T	COL4A4	NM_000092.5(COL4A4):c.3150+92C>A	noncoding	Benign
2	227051323	T	C	T227051323C	COL4A4	NM_000092.5(COL4A4):c.2969-165A>G	noncoding	Benign
2	227052365	G	A	G227052365A	COL4A4	NM_000092.5(COL4A4):c.2908C>T:p.Gln970Ter	coding	Pathogenic
2	227052524	C	G	C227052524G	COL4A4	NM_000092.5(COL4A4):c.2861-112G>C	noncoding	Benign
2	227052554	T	C	T227052554C	COL4A4	NM_000092.5(COL4A4):c.2861-142A>G	noncoding	Benign
2	227052607	T	C	T227052607C	COL4A4	NM_000092.5(COL4A4):c.2861-195A>G	noncoding	Benign
2	227052632	G	A	G227052632A	COL4A4	NM_000092.5(COL4A4):c.2861-220C>T	noncoding	Benign
2	227054436	T	G	T227054436G	COL4A4	NM_000092.5(COL4A4):c.2860+158A>C	noncoding	Benign
2	227054592	A	C	A227054592C	COL4A4	NM_000092.5(COL4A4):c.2860+2T>G	noncoding	Pathogenic
2	227054612	C	A	C227054612A	COL4A4	NM_000092.5(COL4A4):c.2842G>T:p.Gly948Ter	coding	Pathogenic
2	227054621	C	A	C227054621A	COL4A4	NM_000092.5(COL4A4):c.2833G>T:p.Gly945Ter	coding	Pathogenic
2	227054752	G	T	G227054752T	COL4A4	NM_000092.5(COL4A4):c.2717-15C>A	noncoding	Benign/Likely_benign
2	227054753	C	T	C227054753T	COL4A4	NM_000092.5(COL4A4):c.2717-16G>A	noncoding	Benign
2	227054754	A	G	A227054754G	COL4A4	NM_000092.5(COL4A4):c.2717-17T>C	noncoding	Benign/Likely_benign
2	227055758	G	A	G227055758A	COL4A4	NM_000092.5(COL4A4):c.2716+187C>T	noncoding	Benign
2	227056044	C	T	C227056044T	COL4A4	NM_000092.5(COL4A4):c.2617G>A:p.Gly873Arg	coding	Pathogenic
2	227056071	C	T	C227056071T	COL4A4	NM_000092.5(COL4A4):c.2590G>A:p.Gly864Arg	coding	Pathogenic/Likely_pathogenic
2	227056379	A	T	A227056379T	COL4A4	NM_000092.5(COL4A4):c.2546-264T>A	noncoding	Benign
2	227057210	G	A	G227057210A	COL4A4	NM_000092.5(COL4A4):c.2545+229C>T	noncoding	Benign
2	227057225	G	A	G227057225A	COL4A4	NM_000092.5(COL4A4):c.2545+214C>T	noncoding	Benign
2	227057261	A	G	A227057261G	COL4A4	NM_000092.5(COL4A4):c.2545+178T>C	noncoding	Benign
2	227057299	A	G	A227057299G	COL4A4	NM_000092.5(COL4A4):c.2545+140T>C	noncoding	Benign
2	227057388	T	C	T227057388C	COL4A4	NM_000092.5(COL4A4):c.2545+51A>G	noncoding	Benign
2	227057393	T	A	T227057393A	COL4A4	NM_000092.5(COL4A4):c.2545+46A>T	noncoding	Benign
2	227057474	C	G	C227057474G	COL4A4	NM_000092.5(COL4A4):c.2510G>C:p.Gly837Ala	coding	Pathogenic/Likely_pathogenic
2	227057738	G	A	G227057738A	COL4A4	NM_000092.5(COL4A4):c.2384-138C>T	noncoding	Benign
2	227057754	T	C	T227057754C	COL4A4	NM_000092.5(COL4A4):c.2384-154A>G	noncoding	Benign
2	227057830	C	T	C227057830T	COL4A4	NM_000092.5(COL4A4):c.2384-230G>A	noncoding	Benign
2	227057907	T	C	T227057907C	COL4A4	NM_000092.5(COL4A4):c.2384-307A>G	noncoding	Benign
2	227059136	G	A	G227059136A	COL4A4	NM_000092.5(COL4A4):c.2383+269C>T	noncoding	Benign
2	227059236	A	G	A227059236G	COL4A4	NM_000092.5(COL4A4):c.2383+169T>C	noncoding	Benign
2	227059405	C	T	C227059405T	COL4A4	NM_000092.5(COL4A4):c.2383G>A:p.Gly795Arg	coding	Pathogenic
2	227059537	C	A	C227059537A	COL4A4	NM_000092.5(COL4A4):c.2251G>T:p.Gly751Ter	coding	Pathogenic
2	227060381	C	T	C227060381T	COL4A4	NM_000092.5(COL4A4):c.2057-138G>A	noncoding	Benign
2	227062282	T	C	T227062282C	COL4A4	NM_000092.5(COL4A4):c.2056+248A>G	noncoding	Benign
2	227062557	C	T	C227062557T	COL4A4	NM_000092.5(COL4A4):c.2029G>A:p.Gly677Ser	coding	Pathogenic
2	227062619	C	T	C227062619T	COL4A4	NM_000092.5(COL4A4):c.1988-21G>A	noncoding	Benign
2	227062820	C	T	C227062820T	COL4A4	NM_000092.5(COL4A4):c.1988-222G>A	noncoding	Benign
2	227077878	A	T	A227077878T	COL4A4	NM_000092.5(COL4A4):c.1987+16T>A	noncoding	Benign
2	227078025	C	T	C227078025T	COL4A4	NM_000092.5(COL4A4):c.1856G>A:p.Gly619Asp	coding	Pathogenic
2	227078235	T	C	T227078235C	COL4A4	NM_000092.5(COL4A4):c.1804-158A>G	noncoding	Benign
2	227080478	C	A	C227080478A	COL4A4	NM_000092.5(COL4A4):c.1768G>T:p.Gly590Ter	coding	Pathogenic
2	227080550	C	G	C227080550G	COL4A4	NM_000092.5(COL4A4):c.1697-1G>C	coding	Pathogenic
2	227082337	C	G	C227082337G	COL4A4	NM_000092.5(COL4A4):c.1624-150G>C	noncoding	Benign
2	227082375	C	T	C227082375T	COL4A4	NM_000092.5(COL4A4):c.1624-188G>A	noncoding	Benign
2	227088745	G	A	G227088745A	COL4A4	NM_000092.5(COL4A4):c.1531C>T:p.Gln511Ter	coding	Pathogenic
2	227089610	C	T	C227089610T	COL4A4	NM_000092.5(COL4A4):c.1459+258G>A	noncoding	Benign
2	227089922	C	A	C227089922A	COL4A4	NM_000092.5(COL4A4):c.1405G>T:p.Gly469Ter	coding	Pathogenic/Likely_pathogenic
2	227093936	A	G	A227093936G	COL4A4	NM_000092.5(COL4A4):c.1369+189T>C	noncoding	Benign
2	227094045	A	T	A227094045T	COL4A4	NM_000092.5(COL4A4):c.1369+80T>A	noncoding	Benign
2	227094170	C	A	C227094170A	COL4A4	NM_000092.5(COL4A4):c.1324G>T:p.Gly442Cys	coding	Pathogenic
2	227094271	C	T	C227094271T	COL4A4	NM_000092.5(COL4A4):c.1223G>A:p.Gly408Glu	coding	Pathogenic/Likely_pathogenic
2	227094407	C	T	C227094407T	COL4A4	NM_000092.5(COL4A4):c.1205-118G>A	noncoding	Benign
2	227094411	G	A	G227094411A	COL4A4	NM_000092.5(COL4A4):c.1205-122C>T	noncoding	Benign
2	227098753	C	G	C227098753G	COL4A4	NM_000092.5(COL4A4):c.1145G>C:p.Gly382Ala	coding	Pathogenic
2	227099619	C	A	C227099619A	COL4A4	NM_000092.5(COL4A4):c.1099+1G>T	noncoding	Pathogenic/Likely_pathogenic
2	227099620	C	T	C227099620T	COL4A4	NM_000092.5(COL4A4):c.1099G>A:p.Gly367Ser	coding	Pathogenic
2	227099838	C	T	C227099838T	COL4A4	NM_000092.5(COL4A4):c.1030-149G>A	noncoding	Benign
2	227101432	C	T	C227101432T	COL4A4	NM_000092.5(COL4A4):c.1029+72G>A	noncoding	Benign
2	227102549	G	C	G227102549C	COL4A4	NM_000092.5(COL4A4):c.930+240C>G	noncoding	Benign
2	227102614	C	G	C227102614G	COL4A4	NM_000092.5(COL4A4):c.930+175G>C	noncoding	Benign
2	227102778	A	G	A227102778G	COL4A4	NM_000092.5(COL4A4):c.930+11T>C	noncoding	Benign
2	227103161	C	T	C227103161T	COL4A4	NM_000092.5(COL4A4):c.853G>A:p.Gly285Arg	coding	Pathogenic
2	227103317	A	G	A227103317G	COL4A4	NM_000092.5(COL4A4):c.817-120T>C	noncoding	Benign
2	227103504	T	G	T227103504G	COL4A4	NM_000092.5(COL4A4):c.817-307A>C	noncoding	Benign
2	227103837	A	C	A227103837C	COL4A4	NM_000092.5(COL4A4):c.816+135T>G	noncoding	Benign
2	227104121	T	A	T227104121A	COL4A4	NM_000092.5(COL4A4):c.736-69A>T	noncoding	Benign
2	227108379	A	T	A227108379T	COL4A4	NM_000092.5(COL4A4):c.735+202T>A	noncoding	Benign
2	227108477	G	A	G227108477A	COL4A4	NM_000092.5(COL4A4):c.735+104C>T	noncoding	Benign
2	227108579	A	G	A227108579G	COL4A4	NM_000092.5(COL4A4):c.735+2T>C	noncoding	Pathogenic/Likely_pathogenic
2	227108581	C	T	C227108581T	COL4A4	NM_000092.5(COL4A4):c.735G>A:p.Pro245=	coding	Pathogenic/Likely_pathogenic
2	227108694	C	A	C227108694A	COL4A4	NM_000092.5(COL4A4):c.694-72G>T	noncoding	Benign
2	227108907	A	G	A227108907G	COL4A4	NM_000092.5(COL4A4):c.658-39T>C	noncoding	Benign
2	227109278	C	T	C227109278T	COL4A4	NM_000092.5(COL4A4):c.603G>A:p.Trp201Ter	coding	Pathogenic
2	227109397	A	G	A227109397G	COL4A4	NM_000092.5(COL4A4):c.595-111T>C	noncoding	Benign
2	227109475	A	G	A227109475G	COL4A4	NM_000092.5(COL4A4):c.595-189T>C	noncoding	Benign
2	227109477	G	A	G227109477A	COL4A4	NM_000092.5(COL4A4):c.595-191C>T	noncoding	Benign
2	227111397	G	A	G227111397A	COL4A4	NM_000092.5(COL4A4):c.594+281C>T	noncoding	Benign
2	227111402	C	A	C227111402A	COL4A4	NM_000092.5(COL4A4):c.594+276G>T	noncoding	Benign
2	227111510	T	C	T227111510C	COL4A4	NM_000092.5(COL4A4):c.594+168A>G	noncoding	Benign
2	227111514	C	A	C227111514A	COL4A4	NM_000092.5(COL4A4):c.594+164G>T	noncoding	Benign
2	227111582	G	A	G227111582A	COL4A4	NM_000092.5(COL4A4):c.594+96C>T	noncoding	Benign
2	227111615	A	G	A227111615G	COL4A4	NM_000092.5(COL4A4):c.594+63T>C	noncoding	Benign
2	227111677	C	T	C227111677T	COL4A4	NM_000092.5(COL4A4):c.594+1G>A	noncoding	Pathogenic/Likely_pathogenic
2	227111715	T	G	T227111715G	COL4A4	NM_000092.5(COL4A4):c.559-2A>C	noncoding	Pathogenic
2	227111868	G	A	G227111868A	COL4A4	NM_000092.5(COL4A4):c.559-155C>T	noncoding	Benign
2	227112033	G	C	G227112033C	COL4A4	NM_000092.5(COL4A4):c.559-320C>G	noncoding	Benign
2	227114418	T	C	T227114418C	COL4A4	NM_000092.5(COL4A4):c.558+210A>G	noncoding	Benign
2	227114510	G	T	G227114510T	COL4A4	NM_000092.5(COL4A4):c.558+118C>A	noncoding	Benign
2	227114545	A	G	A227114545G	COL4A4	NM_000092.5(COL4A4):c.558+83T>C	noncoding	Benign
2	227114555	C	A	C227114555A	COL4A4	NM_000092.5(COL4A4):c.558+73G>T	noncoding	Benign
2	227114627	C	T	C227114627T	COL4A4	NM_000092.5(COL4A4):c.558+1G>A	noncoding	Pathogenic
2	227114736	A	G	A227114736G	COL4A4	NM_000092.5(COL4A4):c.490-40T>C	noncoding	Benign
2	227114817	A	C	A227114817C	COL4A4	NM_000092.5(COL4A4):c.490-121T>G	noncoding	Benign
2	227118498	T	C	T227118498C	COL4A4	NM_000092.5(COL4A4):c.489+147A>G	noncoding	Benign
2	227118924	A	G	A227118924G	COL4A4	NM_000092.5(COL4A4):c.373-163T>C	noncoding	Benign
2	227119093	G	A	G227119093A	COL4A4	NM_000092.5(COL4A4):c.373-332C>T	noncoding	Benign
2	227121150	T	G	T227121150G	COL4A4	NM_000092.5(COL4A4):c.193-2A>C	noncoding	Pathogenic
2	227140188	G	T	G227140188T	COL4A4	NM_000092.5(COL4A4):c.165C>A:p.Cys55Ter	coding	Pathogenic
2	227140197	G	T	G227140197T	COL4A4	NM_000092.5(COL4A4):c.156C>A:p.Cys52Ter	coding	Pathogenic
2	227140235	C	A	C227140235A	COL4A4	NM_000092.5(COL4A4):c.118G>T:p.Gly40Ter	coding	Pathogenic
2	227144525	A	C	A227144525C	COL4A4	NM_000092.5(COL4A4):c.105T>G:p.Tyr35Ter	coding	Pathogenic
2	227144558	C	T	C227144558T	COL4A4	NM_000092.5(COL4A4):c.72G>A:p.Trp24Ter	coding	Pathogenic
2	227147108	T	C	T227147108C	COL4A4	NM_000092.5(COL4A4):c.71+305A>G	noncoding	Benign
2	227147250	G	T	G227147250T	COL4A4	NM_000092.5(COL4A4):c.71+163C>A	noncoding	Benign
2	227147338	C	T	C227147338T	COL4A4	NM_000092.5(COL4A4):c.71+75G>A	noncoding	Benign
2	227147434	T	C	T227147434C	COL4A4	NM_000092.5(COL4A4):c.50A>G:p.Lys17Arg	coding	Benign/Likely_benign
2	227147478	C	T	C227147478T	COL4A4	NM_000092.5(COL4A4):c.6G>A:p.Trp2Ter	coding	Pathogenic
2	227147719	T	C	T227147719C	COL4A4	NM_000092.5(COL4A4):c.-101-135A>G	noncoding	Benign
2	227147775	T	A	T227147775A	COL4A4	NM_000092.5(COL4A4):c.-101-191A>T	noncoding	Benign
2	227164727	A	C	A227164727C	COL4A3	NM_000091.5(COL4A3):c.1A>C:p.Met1Leu	coding	Pathogenic/Likely_pathogenic
2	227238042	T	G	T227238042G	COL4A3	NM_000091.5(COL4A3):c.144+18T>G	noncoding	Benign/Likely_benign
2	227238205	G	T	G227238205T	COL4A3	NM_000091.5(COL4A3):c.144+181G>T	noncoding	Benign
2	227238206	G	A	G227238206A	COL4A3	NM_000091.5(COL4A3):c.144+182G>A	noncoding	Benign
2	227240044	C	T	C227240044T	COL4A3	NM_000091.5(COL4A3):c.145-99C>T	noncoding	Benign/Likely_benign
2	227240182	C	T	C227240182T	COL4A3	NM_000091.5(COL4A3):c.184C>T:p.Gln62Ter	coding	Pathogenic
2	227244338	G	T	G227244338T	COL4A3	NM_000091.5(COL4A3):c.253G>T:p.Gly85Ter	coding	Pathogenic
2	227244631	A	G	A227244631G	COL4A3	NM_000091.5(COL4A3):c.279+267A>G	noncoding	Benign
2	227244822	G	A	G227244822A	COL4A3	NM_000091.5(COL4A3):c.280-129G>A	noncoding	Benign
2	227244911	T	G	T227244911G	COL4A3	NM_000091.5(COL4A3):c.280-40T>G	noncoding	Benign/Likely_benign
2	227245068	C	T	C227245068T	COL4A3	NM_000091.5(COL4A3):c.324+73C>T	noncoding	Benign
2	227245708	T	C	T227245708C	COL4A3	NM_000091.5(COL4A3):c.325-246T>C	noncoding	Benign
2	227245927	C	T	C227245927T	COL4A3	NM_000091.5(COL4A3):c.325-27C>T	noncoding	Benign
2	227246884	G	T	G227246884T	COL4A3	NM_000091.5(COL4A3):c.441+146G>T	noncoding	Benign
2	227246888	G	T	G227246888T	COL4A3	NM_000091.5(COL4A3):c.441+150G>T	noncoding	Benign
2	227246935	A	G	A227246935G	COL4A3	NM_000091.5(COL4A3):c.441+197A>G	noncoding	Benign
2	227246985	A	G	A227246985G	COL4A3	NM_000091.5(COL4A3):c.441+247A>G	noncoding	Benign
2	227247377	C	T	C227247377T	COL4A3	NM_000091.5(COL4A3):c.442-181C>T	noncoding	Benign
2	227247456	A	G	A227247456G	COL4A3	NM_000091.5(COL4A3):c.442-102A>G	noncoding	Benign
2	227247470	A	G	A227247470G	COL4A3	NM_000091.5(COL4A3):c.442-88A>G	noncoding	Benign
2	227247543	T	C	T227247543C	COL4A3	NM_000091.5(COL4A3):c.442-15T>C	noncoding	Benign
2	227247723	C	T	C227247723T	COL4A3	NM_000091.5(COL4A3):c.468+139C>T	noncoding	Benign
2	227248300	A	T	A227248300T	COL4A3	NM_000091.5(COL4A3):c.469-143A>T	noncoding	Benign
2	227248390	G	T	G227248390T	COL4A3	NM_000091.5(COL4A3):c.469-53G>T	noncoding	Benign
2	227248706	C	A	C227248706A	COL4A3	NM_000091.5(COL4A3):c.546+186C>A	noncoding	Benign
2	227251602	C	G	C227251602G	COL4A3	NM_000091.5(COL4A3):c.645+231C>G	noncoding	Benign
2	227251675	G	A	G227251675A	COL4A3	NM_000091.5(COL4A3):c.645+304G>A	noncoding	Benign
2	227253440	T	A	T227253440A	COL4A3	NM_000091.5(COL4A3):c.687+103T>A	noncoding	Benign/Likely_benign
2	227253687	T	G	T227253687G	COL4A3	NM_000091.5(COL4A3):c.765+49T>G	noncoding	Benign
2	227253792	G	A	G227253792A	COL4A3	NM_000091.5(COL4A3):c.765+154G>A	noncoding	Benign
2	227254037	G	C	G227254037C	COL4A3	NM_000091.5(COL4A3):c.766-75G>C	noncoding	Benign
2	227254224	T	C	T227254224C	COL4A3	NM_000091.5(COL4A3):c.828+50T>C	noncoding	Benign
2	227254233	C	G	C227254233G	COL4A3	NM_000091.5(COL4A3):c.828+59C>G	noncoding	Benign
2	227254444	A	G	A227254444G	COL4A3	NM_000091.5(COL4A3):c.829-212A>G	noncoding	Benign
2	227254716	G	A	G227254716A	COL4A3	NM_000091.5(COL4A3):c.888+1G>A	coding	Pathogenic
2	227254732	G	A	G227254732A	COL4A3	NM_000091.5(COL4A3):c.888+17G>A	noncoding	Benign
2	227254935	C	G	C227254935G	COL4A3	NM_000091.5(COL4A3):c.888+220C>G	noncoding	Benign
2	227255715	T	G	T227255715G	COL4A3	NM_000091.5(COL4A3):c.889-311T>G	noncoding	Benign
2	227255904	T	C	T227255904C	COL4A3	NM_000091.5(COL4A3):c.889-122T>C	noncoding	Benign
2	227255987	T	C	T227255987C	COL4A3	NM_000091.5(COL4A3):c.889-39T>C	noncoding	Benign/Likely_benign
2	227256413	T	C	T227256413C	COL4A3	NM_000091.5(COL4A3):c.987+17T>C	noncoding	Benign/Likely_benign
2	227256416	C	G	C227256416G	COL4A3	NM_000091.5(COL4A3):c.987+20C>G	noncoding	Benign/Likely_benign
2	227256544	A	C	A227256544C	COL4A3	NM_000091.5(COL4A3):c.987+148A>C	noncoding	Benign
2	227256691	A	C	A227256691C	COL4A3	NM_000091.5(COL4A3):c.987+295A>C	noncoding	Benign
2	227257515	A	G	A227257515G	COL4A3	NM_000091.5(COL4A3):c.988-88A>G	noncoding	Benign
2	227257523	T	C	T227257523C	COL4A3	NM_000091.5(COL4A3):c.988-80T>C	noncoding	Benign/Likely_benign
2	227257890	T	C	T227257890C	COL4A3	NM_000091.5(COL4A3):c.1029+246T>C	noncoding	Benign
2	227259796	G	T	G227259796T	COL4A3	NM_000091.5(COL4A3):c.1033G>T:p.Glu345Ter	coding	Pathogenic
2	227259817	G	T	G227259817T	COL4A3	NM_000091.5(COL4A3):c.1054G>T:p.Glu352Ter	coding	Pathogenic
2	227259874	C	T	C227259874T	COL4A3	NM_000091.5(COL4A3):c.1111C>T:p.Gln371Ter	coding	Pathogenic
2	227259986	A	G	A227259986G	COL4A3	NM_000091.5(COL4A3):c.1114+109A>G	noncoding	Benign
2	227260871	C	G	C227260871G	COL4A3	NM_000091.5(COL4A3):c.1115-211C>G	noncoding	Benign
2	227263813	G	A	G227263813A	COL4A3	NM_000091.5(COL4A3):c.1184G>A:p.Gly395Glu	coding	Pathogenic/Likely_pathogenic
2	227263858	G	A	G227263858A	COL4A3	NM_000091.5(COL4A3):c.1229G>A:p.Gly410Glu	coding	Pathogenic
2	227263944	G	A	G227263944A	COL4A3	NM_000091.5(COL4A3):c.1315G>A:p.Gly439Ser	coding	Pathogenic/Likely_pathogenic
2	227264008	G	A	G227264008A	COL4A3	NM_000091.5(COL4A3):c.1315+64G>A	noncoding	Benign
2	227264149	C	T	C227264149T	COL4A3	NM_000091.5(COL4A3):c.1315+205C>T	noncoding	Benign
2	227266473	G	A	G227266473A	COL4A3	NM_000091.5(COL4A3):c.1372G>A:p.Gly458Arg	coding	Pathogenic
2	227266473	G	C	G227266473C	COL4A3	NM_000091.5(COL4A3):c.1372G>C:p.Gly458Arg	coding	Pathogenic/Likely_pathogenic
2	227266510	G	A	G227266510A	COL4A3	NM_000091.5(COL4A3):c.1408+1G>A	coding	Pathogenic
2	227266765	G	A	G227266765A	COL4A3	NM_000091.5(COL4A3):c.1409-228G>A	noncoding	Benign
2	227267027	T	A	T227267027A	COL4A3	NM_000091.5(COL4A3):c.1443T>A:p.Tyr481Ter	coding	Pathogenic
2	227267188	T	C	T227267188C	COL4A3	NM_000091.5(COL4A3):c.1504+100T>C	noncoding	Benign
2	227267196	C	A	C227267196A	COL4A3	NM_000091.5(COL4A3):c.1504+108C>A	noncoding	Benign
2	227269623	T	A	T227269623A	COL4A3	NM_000091.5(COL4A3):c.1505-287T>A	noncoding	Benign
2	227270464	A	G	A227270464G	COL4A3	NM_000091.5(COL4A3):c.1576-306A>G	noncoding	Benign
2	227270785	C	T	C227270785T	COL4A3	NM_000091.5(COL4A3):c.1591C>T:p.Gln531Ter	coding	Pathogenic
2	227270809	G	T	G227270809T	COL4A3	NM_000091.5(COL4A3):c.1615G>T:p.Glu539Ter	coding	Pathogenic/Likely_pathogenic
2	227270944	G	T	G227270944T	COL4A3	NM_000091.5(COL4A3):c.1750G>T:p.Gly584Cys	coding	Pathogenic
2	227272641	T	A	T227272641A	COL4A3	NM_000091.5(COL4A3):c.1759-308T>A	noncoding	Benign
2	227272827	A	C	A227272827C	COL4A3	NM_000091.5(COL4A3):c.1759-122A>C	noncoding	Benign
2	227273012	G	A	G227273012A	COL4A3	NM_000091.5(COL4A3):c.1822G>A:p.Gly608Arg	coding	Pathogenic
2	227273081	G	A	G227273081A	COL4A3	NM_000091.5(COL4A3):c.1891G>A:p.Gly631Arg	coding	Pathogenic
2	227273090	G	T	G227273090T	COL4A3	NM_000091.5(COL4A3):c.1900G>T:p.Gly634Ter	coding	Pathogenic
2	227273108	G	A	G227273108A	COL4A3	NM_000091.5(COL4A3):c.1918G>A:p.Gly640Arg	coding	Pathogenic/Likely_pathogenic
2	227277395	T	C	T227277395C	COL4A3	NM_000091.5(COL4A3):c.2021-54T>C	noncoding	Benign/Likely_benign
2	227279856	G	A	G227279856A	COL4A3	NM_000091.5(COL4A3):c.2189G>A:p.Gly730Glu	coding	Pathogenic
2	227279990	G	T	G227279990T	COL4A3	NM_000091.5(COL4A3):c.2223+100G>T	noncoding	Benign
2	227280111	T	C	T227280111C	COL4A3	NM_000091.5(COL4A3):c.2223+221T>C	noncoding	Benign
2	227280590	G	T	G227280590T	COL4A3	NM_000091.5(COL4A3):c.2374G>T:p.Gly792Ter	coding	Pathogenic
2	227280827	C	T	C227280827T	COL4A3	NM_000091.5(COL4A3):c.2375-66C>T	noncoding	Benign
2	227281117	G	A	G227281117A	COL4A3	NM_000091.5(COL4A3):c.2488+111G>A	noncoding	Benign
2	227282066	G	T	G227282066T	COL4A3	NM_000091.5(COL4A3):c.2489-299G>T	noncoding	Benign
2	227282145	G	A	G227282145A	COL4A3	NM_000091.5(COL4A3):c.2489-220G>A	noncoding	Benign
2	227282347	T	A	T227282347A	COL4A3	NM_000091.5(COL4A3):c.2489-18T>A	noncoding	Benign/Likely_benign
2	227282422	C	G	C227282422G	COL4A3	NM_000091.5(COL4A3):c.2546C>G:p.Ser849Ter	coding	Pathogenic
2	227282479	G	A	G227282479A	COL4A3	NM_000091.5(COL4A3):c.2603G>A:p.Gly868Glu	coding	Pathogenic
2	227282514	G	T	G227282514T	COL4A3	NM_000091.5(COL4A3):c.2638G>T:p.Gly880Ter	coding	Pathogenic
2	227284264	G	A	G227284264A	COL4A3	NM_000091.5(COL4A3):c.2800G>A:p.Gly934Arg	coding	Pathogenic
2	227284391	A	G	A227284391G	COL4A3	NM_000091.5(COL4A3):c.2881+46A>G	noncoding	Benign
2	227289077	C	T	C227289077T	COL4A3	NM_000091.5(COL4A3):c.2882-73C>T	noncoding	Benign
2	227289379	C	T	C227289379T	COL4A3	NM_000091.5(COL4A3):c.2980+131C>T	noncoding	Benign
2	227289421	A	G	A227289421G	COL4A3	NM_000091.5(COL4A3):c.2980+173A>G	noncoding	Benign
2	227289440	C	A	C227289440A	COL4A3	NM_000091.5(COL4A3):c.2980+192C>A	noncoding	Benign
2	227289801	A	C	A227289801C	COL4A3	NM_000091.5(COL4A3):c.2981-198A>C	noncoding	Benign
2	227290824	C	T	C227290824T	COL4A3	NM_000091.5(COL4A3):c.3148C>T:p.Gln1050Ter	coding	Pathogenic/Likely_pathogenic
2	227290852	C	G	C227290852G	COL4A3	NM_000091.5(COL4A3):c.3176C>G:p.Ser1059Ter	coding	Pathogenic
2	227292872	T	C	T227292872C	COL4A3	NM_000091.5(COL4A3):c.3211-319T>C	noncoding	Benign
2	227292945	G	A	G227292945A	COL4A3	NM_000091.5(COL4A3):c.3211-246G>A	noncoding	Benign
2	227293033	G	T	G227293033T	COL4A3	NM_000091.5(COL4A3):c.3211-158G>T	noncoding	Benign
2	227293082	A	C	A227293082C	COL4A3	NM_000091.5(COL4A3):c.3211-109A>C	noncoding	Benign
2	227293189	A	C	A227293189C	COL4A3	NM_000091.5(COL4A3):c.3211-2A>C	noncoding	Pathogenic
2	227293218	G	A	G227293218A	COL4A3	NM_000091.5(COL4A3):c.3238G>A:p.Gly1080Arg	coding	Pathogenic
2	227293224	A	T	A227293224T	COL4A3	NM_000091.5(COL4A3):c.3244A>T:p.Lys1082Ter	coding	Pathogenic
2	227293318	G	A	G227293318A	COL4A3	NM_000091.5(COL4A3):c.3337+1G>A	coding	Pathogenic
2	227294347	T	C	T227294347C	COL4A3	NM_000091.5(COL4A3):c.3338-143T>C	noncoding	Benign
2	227295009	G	A	G227295009A	COL4A3	NM_000091.5(COL4A3):c.3464G>A:p.Gly1155Asp	coding	Pathogenic
2	227295045	G	A	G227295045A	COL4A3	NM_000091.5(COL4A3):c.3500G>A:p.Gly1167Glu	coding	Pathogenic
2	227297564	T	G	T227297564G	COL4A3	NM_000091.5(COL4A3):c.3566-110T>G	noncoding	Benign
2	227297751	C	T	C227297751T	COL4A3	NM_000091.5(COL4A3):c.3643C>T:p.Arg1215Ter	coding	Pathogenic
2	227297859	G	A	G227297859A	COL4A3	NM_000091.5(COL4A3):c.3751G>A:p.Gly1251Ser	coding	Pathogenic
2	227298054	A	G	A227298054G	COL4A3	NM_000091.5(COL4A3):c.3751+195A>G	noncoding	Benign
2	227298434	G	C	G227298434C	COL4A3	NM_000091.5(COL4A3):c.3752-248G>C	noncoding	Benign
2	227302828	G	A	G227302828A	COL4A3	NM_000091.5(COL4A3):c.3883-210G>A	noncoding	Benign
2	227302844	G	A	G227302844A	COL4A3	NM_000091.5(COL4A3):c.3883-194G>A	noncoding	Benign
2	227302953	C	T	C227302953T	COL4A3	NM_000091.5(COL4A3):c.3883-85C>T	noncoding	Benign
2	227303111	G	C	G227303111C	COL4A3	NM_000091.5(COL4A3):c.3955+1G>C	coding	Pathogenic
2	227303383	C	A	C227303383A	COL4A3	NM_000091.5(COL4A3):c.3955+273C>A	noncoding	Benign
2	227303904	G	A	G227303904A	COL4A3	NM_000091.5(COL4A3):c.4001G>A:p.Gly1334Glu	coding	Pathogenic
2	227304105	C	T	C227304105T	COL4A3	NM_000091.5(COL4A3):c.4114C>T:p.Gln1372Ter	coding	Pathogenic
2	227304916	C	T	C227304916T	COL4A3	NM_000091.5(COL4A3):c.4154-69C>T	noncoding	Benign
2	227305126	G	A	G227305126A	COL4A3	NM_000091.5(COL4A3):c.4252+43G>A	noncoding	Benign
2	227305239	G	A	G227305239A	COL4A3	NM_000091.5(COL4A3):c.4252+156G>A	noncoding	Benign
2	227307659	G	A	G227307659A	COL4A3	NM_000091.5(COL4A3):c.4253-51G>A	noncoding	Benign
2	227307722	C	G	C227307722G	COL4A3	NM_000091.5(COL4A3):c.4265C>G:p.Ser1422Ter	coding	Pathogenic
2	227308780	T	G	T227308780G	COL4A3	NM_000091.5(COL4A3):c.4463-119T>G	noncoding	Benign
2	227309007	C	G	C227309007G	COL4A3	NM_000091.5(COL4A3):c.4571C>G:p.Ser1524Ter	coding	Pathogenic/Likely_pathogenic
2	227309207	C	A	C227309207A	COL4A3	NM_000091.5(COL4A3):c.4644C>A:p.Cys1548Ter	coding	Pathogenic
2	227309336	A	G	A227309336G	COL4A3	NM_000091.5(COL4A3):c.4755+18A>G	noncoding	Benign/Likely_benign
2	227309511	G	A	G227309511A	COL4A3	NM_000091.5(COL4A3):c.4755+193G>A	noncoding	Benign
2	227310582	C	T	C227310582T	COL4A3	NM_000091.5(COL4A3):c.4756-194C>T	noncoding	Benign
2	227310595	C	T	C227310595T	COL4A3	NM_000091.5(COL4A3):c.4756-181C>T	noncoding	Benign
2	227311146	C	T	C227311146T	COL4A3	NM_000091.5(COL4A3):c.4928+198C>T	noncoding	Benign
2	227311398	G	T	G227311398T	COL4A3	NM_000091.5(COL4A3):c.4929-388G>T	noncoding	Pathogenic
2	227325204	C	T	C227325204T	MFF	Single_allele	noncoding	Benign
2	227325269	C	A	C227325269A	MFF	NM_001277062.2(MFF):c.-311C>A	noncoding	Benign
2	227325286	C	G	C227325286G	MFF	NM_001277062.2(MFF):c.-294C>G	noncoding	Benign
2	227325328	C	A	C227325328A	MFF	NM_001277062.2(MFF):c.-252C>A	noncoding	Benign
2	227325435	T	C	T227325435C	MFF	NM_001277062.2(MFF):c.-153+8T>C	noncoding	Benign
2	227327572	C	G	C227327572G	MFF	NM_001277062.2(MFF):c.-152-1106C>G	noncoding	Benign
2	227328648	T	G	T227328648G	MFF	NM_001277062.2(MFF):c.-152-30T>G	noncoding	Benign
2	227329854	G	A	G227329854A	MFF	NM_001277062.2(MFF):c.-40-772G>A	noncoding	Benign
2	227330757	C	T	C227330757T	MFF	NM_001277062.2(MFF):c.92C>T:p.Pro31Leu	coding	Benign
2	227331047	C	T	C227331047T	MFF	NM_001277062.2(MFF):c.181+201C>T	noncoding	Benign
2	227332652	A	G	A227332652G	MFF	NM_001277062.2(MFF):c.351+64A>G	noncoding	Benign
2	227332874	G	T	G227332874T	MFF	NM_001277062.2(MFF):c.351+286G>T	noncoding	Benign
2	227340213	C	T	C227340213T	MFF	NM_001277062.2(MFF):c.352-79C>T	noncoding	Benign
2	227340266	C	T	C227340266T	MFF	NM_001277062.2(MFF):c.352-26C>T	noncoding	Benign
2	227340295	C	T	C227340295T	MFF	NM_001277062.2(MFF):c.355C>T:p.Arg119Ter	coding	Pathogenic
2	227342909	G	A	G227342909A	MFF	NM_001277062.2(MFF):c.440+2529G>A	noncoding	Benign
2	227352276	G	A	G227352276A	MFF	NM_001277062.2(MFF):c.600-238G>A	noncoding	Benign
2	227355428	T	C	T227355428C	MFF	NM_001277062.2(MFF):c.660-249T>C	noncoding	Benign
2	227355812	T	C	T227355812C	MFF	NM_001277062.2(MFF):c.744+51T>C	noncoding	Benign
2	227357246	G	C	G227357246C	MFF	NM_001277062.2(MFF):c.*129G>C	noncoding	Benign
2	227363746	T	G	T227363746G	TM4SF20	NM_024795.4(TM4SF20):c.668A>C:p.Lys223Thr	coding	Benign
2	227363760	C	A	C227363760A	TM4SF20	NM_024795.4(TM4SF20):c.654G>T:p.Leu218=	coding	Benign
2	227363778	G	A	G227363778A	TM4SF20	NM_024795.4(TM4SF20):c.636C>T:p.Ile212=	coding	Benign
2	227363842	A	G	A227363842G	TM4SF20	NM_024795.4(TM4SF20):c.572T>C:p.Val191Ala	coding	Benign
2	227366120	T	C	T227366120C	TM4SF20	NM_024795.4(TM4SF20):c.374A>G:p.Asn125Ser	coding	Benign
2	227366229	G	A	G227366229A	TM4SF20	NM_024795.4(TM4SF20):c.265C>T:p.Leu89Phe	coding	Benign
2	227370902	G	A	G227370902A	TM4SF20	NM_024795.4(TM4SF20):c.249+13C>T	noncoding	Benign
2	227379189	G	A	G227379189A	TM4SF20	NM_024795.4(TM4SF20):c.80C>T:p.Ala27Val	coding	Benign
2	227379194	G	A	G227379194A	TM4SF20	NM_024795.4(TM4SF20):c.75C>T:p.Leu25=	coding	Benign
2	227698860	C	T	C227698860T	SLC19A3	NM_025243.4(SLC19A3):c.855G>A:p.Trp285Ter	coding	Pathogenic
2	227699193	G	T	G227699193T	SLC19A3	NM_025243.4(SLC19A3):c.522C>A:p.Val174=	coding	Benign
2	227702283	C	T	C227702283T	SLC19A3	NM_025243.4(SLC19A3):c.36G>A:p.Trp12Ter	coding	Pathogenic
2	227702382	C	T	C227702382T	SLC19A3	NM_025243.4(SLC19A3):c.-2-62G>A	noncoding	Benign
2	227889939	T	A	T227889939A	DAW1	NM_178821.3(DAW1):c.197T>A:p.Leu66Ter	coding	Pathogenic
2	227893834	G	A	G227893834A	DAW1	NM_178821.3(DAW1):c.357G>A:p.Trp119Ter	coding	Pathogenic
2	227893904	A	G	A227893904G	DAW1	NM_178821.3(DAW1):c.427A>G:p.Asn143Asp	coding	Pathogenic
2	227921439	G	C	G227921439C	DAW1	NM_178821.3(DAW1):c.1091G>C:p.Ser364Thr	coding	Pathogenic
2	227921464	G	T	G227921464T	DAW1	NM_178821.3(DAW1):c.1116G>T:p.Trp372Cys	coding	Pathogenic
2	229767552	G	A	G229767552A	TRIP12	NM_001348323.3(TRIP12):c.*2C>T	noncoding	Benign
2	229769471	T	A	T229769471A	TRIP12	NM_001348323.3(TRIP12):c.5809-146A>T	noncoding	Benign
2	229771526	G	A	G229771526A	TRIP12	NM_001348323.3(TRIP12):c.5801C>T:p.Pro1934Leu	coding	Pathogenic/Likely_pathogenic
2	229777154	C	T	C229777154T	TRIP12	NM_001348323.3(TRIP12):c.5529+161G>A	noncoding	Benign
2	229787597	G	A	G229787597A	TRIP12	NM_001348323.3(TRIP12):c.4903C>T:p.Arg1635Ter	coding	Pathogenic/Likely_pathogenic
2	229789027	T	C	T229789027C	TRIP12	NM_001348323.3(TRIP12):c.4696-87A>G	noncoding	Benign
2	229789610	C	T	C229789610T	TRIP12	NM_001348323.3(TRIP12):c.4695+1G>A	noncoding	Pathogenic
2	229789966	T	C	T229789966C	TRIP12	NM_001348323.3(TRIP12):c.4544-204A>G	noncoding	Benign
2	229791017	C	T	C229791017T	TRIP12	NM_001348323.3(TRIP12):c.4543+107G>A	noncoding	Benign
2	229792067	T	C	T229792067C	TRIP12	NM_001348323.3(TRIP12):c.4216-2A>G	noncoding	Pathogenic
2	229792780	G	T	G229792780T	TRIP12	NM_001348323.3(TRIP12):c.4141+193C>A	noncoding	Benign
2	229796589	A	T	A229796589T	TRIP12	NM_001348323.3(TRIP12):c.3816+2T>A	noncoding	Pathogenic
2	229796887	A	G	A229796887G	TRIP12	NM_001348323.3(TRIP12):c.3625-105T>C	noncoding	Benign
2	229798727	A	C	A229798727C	TRIP12	NM_001348323.3(TRIP12):c.3482+148T>G	noncoding	Benign
2	229798860	C	T	C229798860T	TRIP12	NM_001348323.3(TRIP12):c.3482+15G>A	noncoding	Benign
2	229799470	A	C	A229799470C	TRIP12	NM_001348323.3(TRIP12):c.3207-87T>G	noncoding	Benign
2	229802182	A	G	A229802182G	TRIP12	NM_001348323.3(TRIP12):c.3206+70T>C	noncoding	Benign
2	229804102	C	A	C229804102A	TRIP12	NM_001348323.3(TRIP12):c.2776G>T:p.Gly926Ter	coding	Pathogenic
2	229804142	T	C	T229804142C	TRIP12	NM_001348323.3(TRIP12):c.2736A>G:p.Thr912=	coding	Benign
2	229804252	G	A	G229804252A	TRIP12	NM_001348323.3(TRIP12):c.2651-25C>T	noncoding	Benign
2	229804266	T	G	T229804266G	TRIP12	NM_001348323.3(TRIP12):c.2651-39A>C	noncoding	Benign
2	229808581	G	A	G229808581A	TRIP12	NM_001348323.3(TRIP12):c.2222-212C>T	noncoding	Benign
2	229810977	T	C	T229810977C	TRIP12	NM_001348323.3(TRIP12):c.2124A>G:p.Pro708_Pro709=	coding	Benign
2	229811350	A	C	A229811350C	TRIP12	NM_001348323.3(TRIP12):c.1987-146T>G	noncoding	Benign
2	229815492	C	A	C229815492A	TRIP12	NM_001348323.3(TRIP12):c.1600-184G>T	noncoding	Benign
2	229818487	T	C	T229818487C	TRIP12	NM_001348323.3(TRIP12):c.1476A>G:p.Gln492=	coding	Benign
2	229859061	G	C	G229859061C	TRIP12	NM_001348323.3(TRIP12):c.738C>G:p.Ser246=	coding	Benign
2	229879854	C	T	C229879854T	TRIP12	NM_001348323.3(TRIP12):c.98+128G>A	noncoding	Benign
2	230170693	C	T	C230170693T	SP110	NM_080424.4(SP110):c.1956G>A:p.Thr652=	coding	Benign/Likely_benign
2	230170758	G	A	G230170758A	SP110	NM_080424.4(SP110):c.1891C>T:p.Arg631Ter	coding	Pathogenic/Likely_pathogenic
2	230172046	G	A	G230172046A	SP110	NM_080424.4(SP110):c.1815+20C>T	noncoding	Benign
2	230172824	C	T	C230172824T	SP110	NM_080424.4(SP110):c.1706+20G>A	noncoding	Benign
2	230183578	G	A	G230183578A	SP110	NM_080424.4(SP110):c.1342C>T:p.Arg448Ter	coding	Pathogenic
2	230186012	G	A	G230186012A	SP110	NM_080424.4(SP110):c.1261C>T:p.Arg421Ter	coding	Pathogenic/Likely_pathogenic
2	230200900	G	A	G230200900A	SP110	NM_080424.4(SP110):c.1114C>T:p.Arg372Ter	coding	Pathogenic
2	230202638	G	A	G230202638A	SP110	NM_080424.4(SP110):c.989C>T:p.Thr330Met	coding	Benign/Likely_benign
2	230211574	T	G	T230211574G	SP110	NM_080424.4(SP110):c.668-21A>C	noncoding	Benign
2	230212825	C	T	C230212825T	SP110	NM_080424.4(SP110):c.519G>A:p.Ser173=	coding	Benign
2	230212908	G	A	G230212908A	SP110	NM_080424.4(SP110):c.436C>T:p.Gln146Ter	coding	Pathogenic
2	230212993	T	C	T230212993C	SP110	NM_080424.4(SP110):c.351A>G:p.Thr117=	coding	Benign
2	231206193	T	C	T231206193C	ARMC9	NM_001352754.2(ARMC9):c.-41-5T>C	noncoding	Benign
2	231208109	A	C	A231208109C	ARMC9	NM_001352754.2(ARMC9):c.52-18A>C	noncoding	Benign
2	231208175	G	T	G231208175T	ARMC9	NM_001352754.2(ARMC9):c.100G>T:p.Glu34Ter	coding	Pathogenic
2	231208199	T	C	T231208199C	ARMC9	NM_001352754.2(ARMC9):c.124T>C:p.Leu42=	coding	Benign
2	231208216	C	T	C231208216T	ARMC9	NM_001352754.2(ARMC9):c.141C>T:p.Gly47=	coding	Benign
2	231208393	G	A	G231208393A	ARMC9	NM_001352754.2(ARMC9):c.177+141G>A	noncoding	Benign
2	231222762	T	A	T231222762A	ARMC9	NM_001352754.2(ARMC9):c.539T>A:p.Ile180Lys	coding	Benign
2	231226760	C	G	C231226760G	ARMC9	NM_001352754.2(ARMC9):c.598-14C>G	noncoding	Benign
2	231226766	C	T	C231226766T	ARMC9	NM_001352754.2(ARMC9):c.598-8C>T	noncoding	Benign
2	231239853	G	A	G231239853A	ARMC9	NM_001352754.2(ARMC9):c.781-90G>A	noncoding	Benign
2	231256601	C	T	C231256601T	ARMC9	NM_001352754.2(ARMC9):c.895C>T:p.Arg299Ter	coding	Pathogenic
2	231256694	A	G	A231256694G	ARMC9	NM_001352754.2(ARMC9):c.914+74A>G	noncoding	Benign
2	231270828	A	T	A231270828T	ARMC9	NM_001352754.2(ARMC9):c.1120-154A>T	noncoding	Benign
2	231271015	G	A	G231271015A	ARMC9	NM_001352754.2(ARMC9):c.1153G>A:p.Asp385Asn	coding	Benign
2	231276651	A	G	A231276651G	ARMC9	NM_001352754.2(ARMC9):c.1350A>G:p.Thr450=	coding	Benign
2	231276790	C	T	C231276790T	ARMC9	NM_001352754.2(ARMC9):c.1474+15C>T	noncoding	Benign
2	231282144	G	A	G231282144A	ARMC9	NM_001352754.2(ARMC9):c.1626+11G>A	noncoding	Benign
2	231282159	G	A	G231282159A	ARMC9	NM_001352754.2(ARMC9):c.1626+26G>A	noncoding	Benign
2	231291371	C	T	C231291371T	ARMC9	NM_001352754.2(ARMC9):c.1645C>T:p.Arg549Cys	coding	Benign
2	231331552	G	A	G231331552A	ARMC9	NM_001352754.2(ARMC9):c.1774-241G>A	noncoding	Benign
2	231331752	T	G	T231331752G	ARMC9	NM_001352754.2(ARMC9):c.1774-41T>G	noncoding	Benign
2	231331760	T	A	T231331760A	ARMC9	NM_001352754.2(ARMC9):c.1774-33T>A	noncoding	Benign
2	231331837	G	T	G231331837T	ARMC9	NM_001352754.2(ARMC9):c.1818G>T:p.Leu606=	coding	Benign
2	231331852	C	T	C231331852T	ARMC9	NM_001352754.2(ARMC9):c.1833C>T:p.Leu611=	coding	Benign
2	231331858	A	G	A231331858G	ARMC9	NM_001352754.2(ARMC9):c.1839A>G:p.Glu613=	coding	Benign
2	231331885	G	A	G231331885A	ARMC9	NM_001352754.2(ARMC9):c.1866G>A:p.Thr622=	coding	Benign
2	231331912	A	G	A231331912G	ARMC9	NM_001352754.2(ARMC9):c.1878+15A>G	noncoding	Benign
2	231355889	A	G	A231355889G	ARMC9	NM_001352754.2(ARMC9):c.2086A>G:p.Arg696Gly	coding	Benign
2	231360821	C	G	C231360821G	ARMC9	NM_001352754.2(ARMC9):c.2199C>G:p.Pro733=	coding	Benign
2	231360851	G	A	G231360851A	ARMC9	NM_001352754.2(ARMC9):c.2229G>A:p.Ala743=	coding	Benign
2	231360852	C	G	C231360852G	ARMC9	NM_001352754.2(ARMC9):c.2230C>G:p.Pro744Ala	coding	Benign
2	231370040	A	G	A231370040G	ARMC9	NM_001352754.2(ARMC9):c.2349A>G:p.Ser783=	coding	Benign
2	231371499	G	A	G231371499A	ARMC9	NM_001352754.2(ARMC9):c.2435-14G>A	noncoding	Benign
2	231781069	T	A	T231781069A	PDE6D	NM_002601.4(PDE6D):c.46A>T:p.Lys16Ter	coding	Pathogenic
2	231925452	G	T	G231925452T	NPPC	NM_024409.4(NPPC):c.354C>A:p.Ile118=	coding	Benign
2	231925659	A	G	A231925659G	NPPC	NM_024409.4(NPPC):c.147T>C:p.Gly49=	coding	Benign
2	231926174	C	G	C231926174G	NPPC	NM_024409.4(NPPC):c.76G>C:p.Gly26Arg	coding	Benign
2	232015588	C	T	C232015588T	DIS3L2	NM_152383.5(DIS3L2):c.127C>T:p.Arg43Ter	coding	Pathogenic
2	232023966	A	G	A232023966G	DIS3L2	NM_152383.5(DIS3L2):c.211-311A>G	noncoding	Benign
2	232024146	T	G	T232024146G	DIS3L2	NM_152383.5(DIS3L2):c.211-131T>G	noncoding	Benign
2	232024613	G	A	G232024613A	DIS3L2	NM_152383.5(DIS3L2):c.264+283G>A	noncoding	Benign
2	232030077	G	A	G232030077A	DIS3L2	NM_152383.5(DIS3L2):c.363G>A:p.Trp121Ter	coding	Pathogenic
2	232087701	C	G	C232087701G	DIS3L2	NM_152383.5(DIS3L2):c.581C>G:p.Ser194Ter	coding	Pathogenic
2	232130712	C	G	C232130712G	DIS3L2	NM_152383.5(DIS3L2):c.695C>G:p.Ser232Ter	coding	Pathogenic
2	232130752	A	G	A232130752G	DIS3L2	NM_152383.5(DIS3L2):c.702+33A>G	coding	Benign
2	232136409	C	T	C232136409T	DIS3L2	NM_152383.5(DIS3L2):c.703-63C>T	noncoding	Benign
2	232136589	C	T	C232136589T	DIS3L2	NM_152383.5(DIS3L2):c.820C>T:p.Arg274Ter	coding	Pathogenic
2	232136640	G	A	G232136640A	DIS3L2	NM_152383.5(DIS3L2):c.871G>A:p.Ala291Thr	coding	Benign
2	232136961	A	G	A232136961G	DIS3L2	NM_152383.5(DIS3L2):c.950+242A>G	noncoding	Benign
2	232163360	A	G	A232163360G	DIS3L2	NM_152383.5(DIS3L2):c.951-99A>G	noncoding	Benign
2	232163439	C	T	C232163439T	DIS3L2	NM_152383.5(DIS3L2):c.951-20C>T	noncoding	Benign
2	232163481	C	T	C232163481T	DIS3L2	NM_152383.5(DIS3L2):c.973C>T:p.Gln325Ter	coding	Pathogenic
2	232163901	A	T	A232163901T	DIS3L2	NM_152383.5(DIS3L2):c.1124+269A>T	noncoding	Benign
2	232238660	C	G	C232238660G	DIS3L2	NM_152383.5(DIS3L2):c.1317+15C>G	noncoding	Benign/Likely_benign
2	232238879	A	G	A232238879G	DIS3L2	NM_152383.5(DIS3L2):c.1317+234A>G	noncoding	Benign
2	232248890	A	G	A232248890G	DIS3L2	NM_152383.5(DIS3L2):c.1318-349A>G	noncoding	Benign
2	232249324	G	A	G232249324A	DIS3L2	NM_152383.5(DIS3L2):c.1403G>A:p.Trp468Ter	coding	Pathogenic
2	232263012	A	T	A232263012T	DIS3L2	NM_152383.5(DIS3L2):c.1426-195A>T	noncoding	Benign
2	232263348	G	A	G232263348A	DIS3L2	NM_152383.5(DIS3L2):c.1567G>A:p.Glu523Lys	coding	Benign
2	232263351	G	T	G232263351T	DIS3L2	NM_152383.5(DIS3L2):c.1570G>T:p.Glu524Ter	coding	Pathogenic
2	232299858	A	G	A232299858G	DIS3L2	NM_152383.5(DIS3L2):c.1660-182A>G	noncoding	Benign
2	232330796	G	A	G232330796A	DIS3L2	NM_152383.5(DIS3L2):c.2010+20G>A	noncoding	Benign
2	232333663	G	A	G232333663A	DIS3L2	NM_152383.5(DIS3L2):c.2011-177G>A	noncoding	Benign
2	232333917	C	G	C232333917G	DIS3L2	NM_152383.5(DIS3L2):c.2088C>G:p.Tyr696Ter	coding	Pathogenic
2	232334201	C	T	C232334201T	DIS3L2	NM_152383.5(DIS3L2):c.2159-168C>T	noncoding	Benign
2	232334454	C	T	C232334454T	DIS3L2	NM_152383.5(DIS3L2):c.2244C>T:p.Arg748=	coding	Benign
2	232334536	G	A	G232334536A	DIS3L2	NM_152383.5(DIS3L2):c.2289+37G>A	noncoding	Benign
2	232334774	C	T	C232334774T	DIS3L2	NM_152383.5(DIS3L2):c.2394+39C>T	noncoding	Benign
2	232334876	G	A	G232334876A	DIS3L2	NM_152383.5(DIS3L2):c.2394+141G>A	noncoding	Benign
2	232336139	A	G	A232336139G	DIS3L2	NM_152383.5(DIS3L2):c.2496+265A>G	coding	Benign
2	232480018	G	C	G232480018C	ECEL1	NM_004826.4(ECEL1):c.*135C>G	noncoding	Benign
2	232480281	T	G	T232480281G	ECEL1	NM_004826.4(ECEL1):c.2229-29A>C	noncoding	Benign
2	232480539	C	A	C232480539A	ECEL1	NM_004826.4(ECEL1):c.2152-64G>T	noncoding	Benign
2	232480539	C	T	C232480539T	ECEL1	NM_004826.4(ECEL1):c.2152-64G>A	noncoding	Benign
2	232480717	C	A	C232480717A	ECEL1	NM_004826.4(ECEL1):c.2151+1G>T	noncoding	Pathogenic
2	232481317	C	G	C232481317G	ECEL1	NM_004826.4(ECEL1):c.1990-161G>C	noncoding	Benign
2	232481337	C	G	C232481337G	ECEL1	NM_004826.4(ECEL1):c.1989+169G>C	noncoding	Benign
2	232481364	T	C	T232481364C	ECEL1	NM_004826.4(ECEL1):c.1989+142A>G	noncoding	Benign
2	232481745	C	G	C232481745G	ECEL1	NM_004826.4(ECEL1):c.1864+37G>C	noncoding	Benign
2	232481788	C	T	C232481788T	ECEL1	NM_004826.4(ECEL1):c.1858G>A:p.Asp620Asn	coding	Benign
2	232481952	A	C	A232481952C	ECEL1	NM_004826.4(ECEL1):c.1797-103T>G	noncoding	Benign
2	232482141	C	T	C232482141T	ECEL1	NM_004826.4(ECEL1):c.1796+277G>A	noncoding	Benign
2	232483209	C	G	C232483209G	ECEL1	NM_004826.4(ECEL1):c.1507-30G>C	noncoding	Benign
2	232483295	G	T	G232483295T	ECEL1	NM_004826.4(ECEL1):c.1507-116C>A	noncoding	Benign
2	232483842	G	T	G232483842T	ECEL1	NM_004826.4(ECEL1):c.1407+159C>A	noncoding	Benign
2	232483937	G	A	G232483937A	ECEL1	NM_004826.4(ECEL1):c.1407+64C>T	noncoding	Benign
2	232484225	T	C	T232484225C	ECEL1	NM_004826.4(ECEL1):c.1185-2A>G	noncoding	Pathogenic
2	232485290	C	G	C232485290G	ECEL1	NM_004826.4(ECEL1):c.787-23G>C	noncoding	Benign
2	232485577	C	T	C232485577T	ECEL1	NM_004826.4(ECEL1):c.786+291G>A	noncoding	Benign
2	232485838	G	A	G232485838A	ECEL1	NM_004826.4(ECEL1):c.786+30C>T	noncoding	Benign
2	232486097	G	C	G232486097C	ECEL1	NM_004826.4(ECEL1):c.557C>G:p.Ser186Trp	coding	Pathogenic
2	232486603	G	T	G232486603T	ECEL1	NM_004826.4(ECEL1):c.51C>A:p.Val17=	coding	Benign/Likely_benign
2	232487026	G	A	G232487026A	ECEL1	NM_004826.4(ECEL1):c.-101-272C>T	noncoding	Benign
2	232520315	G	A	G232520315A	PRSS56	Single_allele	noncoding	Benign
2	232520492	C	T	C232520492T	PRSS56	NM_001195129.2(PRSS56):c.-107C>T	noncoding	Benign
2	232520722	C	T	C232520722T	PRSS56	NM_001195129.2(PRSS56):c.97+27C>T	noncoding	Benign
2	232521178	C	T	C232521178T	PRSS56	NM_001195129.2(PRSS56):c.98-143C>T	noncoding	Benign
2	232521258	C	T	C232521258T	PRSS56	NM_001195129.2(PRSS56):c.98-63C>T	noncoding	Benign
2	232521279	C	G	C232521279G	PRSS56	NM_001195129.2(PRSS56):c.98-42C>G	noncoding	Benign
2	232521519	T	C	T232521519C	PRSS56	NM_001195129.2(PRSS56):c.205+91T>C	noncoding	Benign
2	232521618	C	T	C232521618T	PRSS56	NM_001195129.2(PRSS56):c.205+190C>T	noncoding	Benign
2	232521722	G	A	G232521722A	PRSS56	NM_001195129.2(PRSS56):c.206-94G>A	noncoding	Benign
2	232521873	T	C	T232521873C	PRSS56	NM_001195129.2(PRSS56):c.256+7T>C	noncoding	Benign
2	232522067	G	A	G232522067A	PRSS56	NM_001195129.2(PRSS56):c.353G>A:p.Trp118Ter	coding	Pathogenic
2	232522297	A	G	A232522297G	PRSS56	NM_001195129.2(PRSS56):c.446+137A>G	noncoding	Benign
2	232522669	T	C	T232522669C	PRSS56	NM_001195129.2(PRSS56):c.547-33T>C	noncoding	Benign
2	232522925	A	G	A232522925G	PRSS56	NM_001195129.2(PRSS56):c.706+64A>G	noncoding	Benign
2	232523601	C	T	C232523601T	PRSS56	NM_001195129.2(PRSS56):c.1012+23C>T	noncoding	Benign
2	232523778	C	T	C232523778T	PRSS56	NM_001195129.2(PRSS56):c.1019C>T:p.Ser340Phe	coding	Benign
2	232523976	G	A	G232523976A	PRSS56	NM_001195129.2(PRSS56):c.1186+31G>A	noncoding	Benign
2	232524106	T	G	T232524106G	PRSS56	NM_001195129.2(PRSS56):c.1254T>G:p.Arg418=	coding	Benign
2	232524293	C	G	C232524293G	PRSS56	NM_001195129.2(PRSS56):c.1352-14C>G	noncoding	Benign/Likely_benign
2	232524457	G	C	G232524457C	PRSS56	NM_001195129.2(PRSS56):c.1414+88G>C	noncoding	Benign
2	232524616	C	T	C232524616T	PRSS56	NM_001195129.2(PRSS56):c.1415-122C>T	noncoding	Benign
2	232524742	C	T	C232524742T	PRSS56	NM_001195129.2(PRSS56):c.1419C>T:p.Cys473=	coding	Benign
2	232525387	G	T	G232525387T	PRSS56	NM_001195129.2(PRSS56):c.1693G>T:p.Ala565Ser	coding	Benign
2	232525995	C	T	C232525995T	CHRND	Single_allele	noncoding	Benign
2	232527171	G	C	G232527171C	CHRND	NM_000751.3(CHRND):c.199-230G>C	noncoding	Benign
2	232527255	A	G	A232527255G	CHRND	NM_000751.3(CHRND):c.199-146A>G	noncoding	Benign
2	232527382	C	T	C232527382T	CHRND	NM_000751.3(CHRND):c.199-19C>T	noncoding	Benign
2	232527558	C	A	C232527558A	CHRND	NM_000751.3(CHRND):c.243+113C>A	noncoding	Benign
2	232529088	C	T	C232529088T	CHRND	NM_000751.3(CHRND):c.619+117C>T	noncoding	Benign
2	232530319	T	C	T232530319C	CHRND	NM_000751.3(CHRND):c.820+180T>C	noncoding	Benign
2	232531483	G	A	G232531483A	CHRND	NM_000751.3(CHRND):c.932+20G>A	noncoding	Benign/Likely_benign
2	232531909	G	T	G232531909T	CHRND	NM_000751.3(CHRND):c.1047+253G>T	noncoding	Benign
2	232539584	C	G	C232539584G	CHRNG	Single_allele	noncoding	Benign
2	232539880	G	C	G232539880C	CHRNG	NM_005199.5(CHRNG):c.55+78G>C	noncoding	Benign
2	232539991	G	A	G232539991A	CHRNG	NM_005199.5(CHRNG):c.56-1G>A	noncoding	Pathogenic
2	232540940	G	A	G232540940A	CHRNG	NM_005199.5(CHRNG):c.350+229G>A	noncoding	Benign
2	232541120	G	T	G232541120T	CHRNG	NM_005199.5(CHRNG):c.351-254G>T	noncoding	Benign
2	232542288	T	G	T232542288G	CHRNG	NM_005199.5(CHRNG):c.507-135T>G	noncoding	Benign
2	232542701	T	A	T232542701A	CHRNG	NM_005199.5(CHRNG):c.604+181T>A	noncoding	Benign
2	232542806	G	C	G232542806C	CHRNG	NM_005199.5(CHRNG):c.605-76G>C	noncoding	Benign
2	232543529	C	G	C232543529G	CHRNG	NM_005199.5(CHRNG):c.921-56C>G	noncoding	Benign
2	232543658	C	T	C232543658T	CHRNG	NM_005199.5(CHRNG):c.994C>T:p.Arg332Trp	coding	Benign
2	232543763	C	T	C232543763T	CHRNG	NM_005199.5(CHRNG):c.1035+64C>T	noncoding	Benign
2	232543804	A	T	A232543804T	CHRNG	NM_005199.5(CHRNG):c.1035+105A>T	noncoding	Benign
2	232544303	G	A	G232544303A	CHRNG	NM_005199.5(CHRNG):c.1036-64G>A	noncoding	Benign
2	232545243	G	T	G232545243T	CHRNG	NM_005199.5(CHRNG):c.1381-300G>T	noncoding	Benign
2	232545333	G	A	G232545333A	CHRNG	NM_005199.5(CHRNG):c.1381-210G>A	noncoding	Benign
2	232545388	G	C	G232545388C	CHRNG	NM_005199.5(CHRNG):c.1381-155G>C	noncoding	Benign
2	232734934	C	T	C232734934T	GIGYF2	NM_001103146.3(GIGYF2):c.-43-221C>T	noncoding	Benign
2	232735194	A	C	A232735194C	GIGYF2	NM_001103146.3(GIGYF2):c.-4A>C	noncoding	Benign
2	232747282	A	G	A232747282G	GIGYF2	NM_001103146.3(GIGYF2):c.42-333A>G	noncoding	Benign
2	232747331	G	T	G232747331T	GIGYF2	NM_001103146.3(GIGYF2):c.42-284G>T	noncoding	Benign
2	232747847	C	T	C232747847T	GIGYF2	NM_001103146.3(GIGYF2):c.171+103C>T	noncoding	Benign
2	232747873	C	A	C232747873A	GIGYF2	NM_001103146.3(GIGYF2):c.171+129C>A	noncoding	Benign
2	232747946	C	T	C232747946T	GIGYF2	NM_001103146.3(GIGYF2):c.171+202C>T	noncoding	Benign
2	232756581	A	G	A232756581G	GIGYF2	NM_001103146.3(GIGYF2):c.379+247A>G	noncoding	Benign
2	232768447	T	G	T232768447G	KCNJ13	NM_002242.4(KCNJ13):c.827A>C:p.Glu276Ala	coding	Benign
2	232769026	A	G	A232769026G	GIGYF2	NM_001103146.3(GIGYF2):c.532+7590A>G	noncoding	Benign
2	232770678	A	C	A232770678C	GIGYF2	NM_001103146.3(GIGYF2):c.532+9242A>C	noncoding	Benign
2	232790526	A	G	A232790526G	GIGYF2	NM_001103146.3(GIGYF2):c.713-172A>G	noncoding	Benign
2	232790651	A	G	A232790651G	GIGYF2	NM_001103146.3(GIGYF2):c.713-47A>G	noncoding	Benign
2	232794843	C	A	C232794843A	GIGYF2	NM_001103146.3(GIGYF2):c.1378C>A:p.Pro460Thr	coding	Benign
2	232795994	T	G	T232795994G	GIGYF2	NM_001103146.3(GIGYF2):c.1480-68T>G	noncoding	Benign
2	232806820	A	G	A232806820G	GIGYF2	NM_001103146.3(GIGYF2):c.1806+163A>G	noncoding	Benign
2	232806829	T	G	T232806829G	GIGYF2	NM_001103146.3(GIGYF2):c.1806+172T>G	noncoding	Benign
2	232811189	C	T	C232811189T	GIGYF2	NM_001103146.3(GIGYF2):c.1899-55C>T	noncoding	Benign
2	232816802	T	G	T232816802G	GIGYF2	NM_001103146.3(GIGYF2):c.2209-69T>G	noncoding	Benign
2	232817332	G	A	G232817332A	GIGYF2	NM_001103146.3(GIGYF2):c.2370+300G>A	noncoding	Benign
2	232819692	A	G	A232819692G	GIGYF2	NM_001103146.3(GIGYF2):c.2371-135A>G	noncoding	Benign
2	232820123	C	T	C232820123T	GIGYF2	NM_001103146.3(GIGYF2):c.2529+138C>T	noncoding	Benign
2	232832627	A	C	A232832627C	GIGYF2	NM_001103146.3(GIGYF2):c.2530-230A>C	noncoding	Benign
2	232839542	A	G	A232839542G	GIGYF2	NM_001103146.3(GIGYF2):c.2767-307A>G	noncoding	Benign
2	232844755	T	G	T232844755G	GIGYF2	NM_001103146.3(GIGYF2):c.3305+181T>G	noncoding	Benign
2	232846003	G	C	G232846003C	GIGYF2	NM_001103146.3(GIGYF2):c.3460+117G>C	noncoding	Benign
2	232847277	G	A	G232847277A	GIGYF2	NM_001103146.3(GIGYF2):c.3461-71G>A	noncoding	Benign
2	232849976	A	G	A232849976G	GIGYF2	NM_001103146.3(GIGYF2):c.3685-286A>G	noncoding	Benign
2	232856745	G	A	G232856745A	GIGYF2	NM_001103146.3(GIGYF2):c.3833-48G>A	noncoding	Benign
2	233309263	C	A	C233309263A	SAG	NM_000541.5(SAG):c.74C>A:p.Ser25Ter	coding	Pathogenic
2	233315991	C	T	C233315991T	SAG	NM_000541.5(SAG):c.76-84C>T	noncoding	Benign
2	233315997	G	C	G233315997C	SAG	NM_000541.5(SAG):c.76-78G>C	noncoding	Benign
2	233316035	C	T	C233316035T	SAG	NM_000541.5(SAG):c.76-40C>T	noncoding	Benign
2	233318877	A	G	A233318877G	SAG	NM_000541.5(SAG):c.181+82A>G	noncoding	Benign
2	233319047	C	T	C233319047T	SAG	NM_000541.5(SAG):c.181+252C>T	noncoding	Benign
2	233319053	C	T	C233319053T	SAG	NM_000541.5(SAG):c.181+258C>T	noncoding	Benign
2	233319065	C	G	C233319065G	SAG	NM_000541.5(SAG):c.181+270C>G	noncoding	Benign
2	233319067	C	T	C233319067T	SAG	NM_000541.5(SAG):c.181+272C>T	noncoding	Benign
2	233320617	A	G	A233320617G	SAG	NM_000541.5(SAG):c.182-13A>G	noncoding	Benign
2	233322755	A	G	A233322755G	SAG	NM_000541.5(SAG):c.376-191A>G	noncoding	Benign
2	233326824	A	G	A233326824G	SAG	NM_000541.5(SAG):c.436-297A>G	noncoding	Benign
2	233327125	G	T	G233327125T	SAG	NM_000541.5(SAG):c.440G>T:p.Cys147Phe	coding	Pathogenic
2	233327213	C	T	C233327213T	SAG	NM_000541.5(SAG):c.512+16C>T	noncoding	Benign
2	233327434	G	A	G233327434A	SAG	NM_000541.5(SAG):c.512+237G>A	noncoding	Benign
2	233328215	T	C	T233328215C	SAG	NM_000541.5(SAG):c.513-263T>C	noncoding	Benign
2	233328305	C	T	C233328305T	SAG	NM_000541.5(SAG):c.513-173C>T	noncoding	Benign
2	233328309	G	A	G233328309A	SAG	NM_000541.5(SAG):c.513-169G>A	noncoding	Benign
2	233328340	G	C	G233328340C	SAG	NM_000541.5(SAG):c.513-138G>C	noncoding	Benign
2	233329492	G	C	G233329492C	SAG	NM_000541.5(SAG):c.649-1G>C	noncoding	Pathogenic
2	233329525	C	T	C233329525T	SAG	NM_000541.5(SAG):c.681C>T:p.Thr227=	coding	Benign
2	233329608	T	G	T233329608G	SAG	NM_000541.5(SAG):c.733+31T>G	noncoding	Benign
2	233331622	C	A	C233331622A	SAG	NM_000541.5(SAG):c.734-18C>A	noncoding	Benign/Likely_benign
2	233334630	C	T	C233334630T	SAG	NM_000541.5(SAG):c.807-332C>T	noncoding	Benign
2	233334676	T	C	T233334676C	SAG	NM_000541.5(SAG):c.807-286T>C	noncoding	Benign
2	233334792	C	T	C233334792T	SAG	NM_000541.5(SAG):c.807-170C>T	noncoding	Benign
2	233334811	C	T	C233334811T	SAG	NM_000541.5(SAG):c.807-151C>T	noncoding	Benign
2	233334936	A	G	A233334936G	SAG	NM_000541.5(SAG):c.807-26A>G	noncoding	Benign
2	233338862	C	G	C233338862G	SAG	NM_000541.5(SAG):c.1022+109C>G	noncoding	Benign
2	233338981	T	C	T233338981C	SAG	NM_000541.5(SAG):c.1022+228T>C	noncoding	Benign
2	233340436	G	A	G233340436A	SAG	NM_000541.5(SAG):c.1023-19G>A	noncoding	Benign
2	233340739	C	T	C233340739T	SAG	NM_000541.5(SAG):c.1046+261C>T	noncoding	Benign
2	233346431	T	C	T233346431C	SAG	NM_000541.5(SAG):c.1112+19T>C	noncoding	Benign
2	233346433	T	G	T233346433G	SAG	NM_000541.5(SAG):c.1112+21T>G	noncoding	Benign
2	233346499	A	C	A233346499C	SAG	NM_000541.5(SAG):c.1112+87A>C	noncoding	Benign
2	233462705	G	A	G233462705A	DGKD	NM_152879.3(DGKD):c.3156G>A:p.Thr1052=	coding	Benign
2	233681832	T	G	T233681832G	UGT1A8	NM_019076.5(UGT1A8):c.855+63270T>G	noncoding	Benign
2	233681881	T	G	T233681881G	UGT1A8	NM_019076.5(UGT1A8):c.855+63319T>G	noncoding	Benign
2	233760182	T	C	T233760182C	UGT1A8	NM_019076.5(UGT1A8):c.856-6852T>C	noncoding	Benign
2	233760817	G	A	G233760817A	UGT1A1	NM_000463.3(UGT1A1):c.530G>A:p.Cys177Tyr	coding	Pathogenic
2	233761113	G	C	G233761113C	UGT1A1	NM_000463.3(UGT1A1):c.826G>C:p.Gly276Arg	coding	Pathogenic
2	233761240	C	T	C233761240T	UGT1A8	NM_019076.5(UGT1A8):c.856-5794C>T	noncoding	Benign
2	233766921	C	T	C233766921T	UGT1A8	NM_019076.5(UGT1A8):c.856-113C>T	noncoding	Benign
2	233767146	T	A	T233767146A	UGT1A1	NM_000463.3(UGT1A1):c.977T>A:p.Leu326Ter	coding	Pathogenic
2	233767183	C	T	C233767183T	covers_10_genes,_none_of_which_curated_to_show_dosage_sensitivity	NM_000463.3(UGT1A1):c.996+18C>T	noncoding	Benign
2	233767472	A	G	A233767472G	UGT1A8	NM_019076.5(UGT1A8):c.987+307A>G	noncoding	Benign
2	233767766	C	T	C233767766T	UGT1A8	NM_019076.5(UGT1A8):c.988-83C>T	noncoding	Benign
2	233767767	T	C	T233767767C	UGT1A8	NM_019076.5(UGT1A8):c.988-82T>C	noncoding	Benign
2	233767812	T	C	T233767812C	UGT1A8	NM_019076.5(UGT1A8):c.988-37T>C	noncoding	Benign
2	233768141	G	A	G233768141A	UGT1A8	NM_019076.5(UGT1A8):c.1076-79G>A	noncoding	Benign
2	233768265	G	T	G233768265T	UGT1A1	NM_000463.3(UGT1A1):c.1130G>T:p.Gly377Val	coding	Pathogenic
2	233768405	G	T	G233768405T	UGT1A1	NM_000463.3(UGT1A1):c.1270G>T:p.Glu424Ter	coding	Pathogenic
2	233768440	G	T	G233768440T	UGT1A1	NM_000463.3(UGT1A1):c.1304+1G>T	coding	Pathogenic
2	233772338	T	C	T233772338C	UGT1A1	NM_000463.3(UGT1A1):c.1381T>C:p.Trp461Arg	coding	Pathogenic
2	233945896	G	C	G233945896C	TRPM8	NM_024080.5(TRPM8):c.740G>C:p.Arg247Thr	coding	Benign
2	234050993	T	A	T234050993A	SPP2	NM_006944.3(SPP2):c.108T>A:p.Asp36Glu	coding	Benign
2	234058895	T	A	T234058895A	SPP2	NM_006944.3(SPP2):c.270T>A:p.Thr90=	coding	Benign
2	234058925	C	T	C234058925T	SPP2	NM_006944.3(SPP2):c.300C>T:p.Pro100=	coding	Benign
2	234060422	C	T	C234060422T	SPP2	NM_006944.3(SPP2):c.387C>T:p.Gly129=	coding	Benign
2	236581237	G	A	G236581237A	ACKR3	NM_020311.3(ACKR3):c.772G>A:p.Val258Met	coding	Pathogenic
2	237325669	C	T	C237325669T	COL6A3	NM_004369.4(COL6A3):c.9384G>A:p.Trp3128Ter	coding	Pathogenic
2	237333238	T	G	T237333238G	COL6A3	NM_004369.4(COL6A3):c.9328+212A>C	noncoding	Benign
2	237334908	C	A	C237334908A	COL6A3	NM_004369.4(COL6A3):c.8966-19G>T	noncoding	Benign
2	237335916	G	C	G237335916C	COL6A3	NM_004369.4(COL6A3):c.8965+219C>G	noncoding	Benign
2	237344370	G	A	G237344370A	COL6A3	NM_004369.4(COL6A3):c.7648C>T:p.Gln2550Ter	coding	Pathogenic
2	237345287	A	G	A237345287G	COL6A3	NM_004369.4(COL6A3):c.7093-74T>C	noncoding	Benign
2	237350114	G	A	G237350114A	COL6A3	NM_004369.4(COL6A3):c.6879+33C>T	noncoding	Benign/Likely_benign
2	237351493	G	T	G237351493T	COL6A3	NM_004369.4(COL6A3):c.6754-301C>A	noncoding	Benign
2	237352866	C	A	C237352866A	COL6A3	NM_004369.4(COL6A3):c.6691-282G>T	noncoding	Benign
2	237353611	C	T	C237353611T	COL6A3	NM_004369.4(COL6A3):c.6628-208G>A	noncoding	Benign
2	237357865	G	C	G237357865C	COL6A3	NM_004369.4(COL6A3):c.6489C>G:p.Asp2163Glu	coding	Pathogenic
2	237358058	G	A	G237358058A	COL6A3	NM_004369.4(COL6A3):c.6472-176C>T	noncoding	Benign
2	237359268	G	A	G237359268A	COL6A3	NM_004369.4(COL6A3):c.6310-18C>T	noncoding	Benign/Likely_benign
2	237359389	C	T	C237359389T	COL6A3	NM_004369.4(COL6A3):c.6283-1G>A	coding	Pathogenic
2	237359390	T	C	T237359390C	COL6A3	NM_004369.4(COL6A3):c.6283-2A>G	noncoding	Pathogenic
2	237361739	C	A	C237361739A	COL6A3	NM_004369.4(COL6A3):c.6156G>T:p.Lys2052Asn	coding	Pathogenic
2	237361780	G	A	G237361780A	COL6A3	NM_004369.4(COL6A3):c.6115C>T:p.Gln2039Ter	coding	Pathogenic
2	237361902	T	C	T237361902C	COL6A3	NM_004369.4(COL6A3):c.6064-71A>G	noncoding	Benign
2	237362001	C	G	C237362001G	COL6A3	NM_004369.4(COL6A3):c.6064-170G>C	noncoding	Benign
2	237363010	C	T	C237363010T	COL6A3	NM_004369.4(COL6A3):c.6063+243G>A	noncoding	Benign
2	237367013	T	G	T237367013G	COL6A3	NM_004369.4(COL6A3):c.5174A>C:p.His1725Pro	coding	Pathogenic
2	237374691	G	A	G237374691A	COL6A3	NM_004369.4(COL6A3):c.3400C>T:p.Gln1134Ter	coding	Pathogenic
2	237374805	G	A	G237374805A	COL6A3	NM_004369.4(COL6A3):c.3286C>T:p.Arg1096Cys	coding	Benign/Likely_benign
2	237374818	G	A	G237374818A	COL6A3	NM_004369.4(COL6A3):c.3273C>T:p.Val1091=	coding	Benign
2	237375004	G	A	G237375004A	COL6A3	NM_004369.4(COL6A3):c.3087C>T:p.Asp1029=	coding	Benign/Likely_benign
2	237378617	G	A	G237378617A	COL6A3	NM_004369.4(COL6A3):c.2497+19C>T	noncoding	Benign
2	237378771	G	A	G237378771A	COL6A3	NM_004369.4(COL6A3):c.2362C>T:p.Gln788Ter	coding	Pathogenic
2	237378813	A	G	A237378813G	COL6A3	NM_004369.4(COL6A3):c.2320T>C:p.Phe774Leu	coding	Benign/Likely_benign
2	237379193	G	T	G237379193T	COL6A3	NM_004369.4(COL6A3):c.1940C>A:p.Ser647Ter	coding	Pathogenic
2	237388029	C	A	C237388029A	COL6A3	NM_004369.4(COL6A3):c.865G>T:p.Glu289Ter	coding	Pathogenic
2	237394576	G	A	G237394576A	COL6A3	NM_004369.4(COL6A3):c.709+11C>T	noncoding	Benign/Likely_benign
2	237395263	A	G	A237395263G	COL6A3	NM_004369.4(COL6A3):c.92-59T>C	noncoding	Benign
2	237395303	G	T	G237395303T	COL6A3	NM_004369.4(COL6A3):c.92-99C>A	noncoding	Benign
2	237397082	C	T	C237397082T	COL6A3	NM_004369.4(COL6A3):c.-30-235G>A	noncoding	Benign
2	237493141	A	G	A237493141G	MLPH	NM_024101.7(MLPH):c.-24-262A>G	noncoding	Benign
2	237493530	G	A	G237493530A	MLPH	NM_024101.7(MLPH):c.104G>A:p.Arg35Gln	coding	Pathogenic/Likely_pathogenic
2	237510643	C	T	C237510643T	MLPH	NM_024101.7(MLPH):c.180C>T:p.Asn60=	coding	Benign
2	237510678	A	G	A237510678G	MLPH	NM_024101.7(MLPH):c.215A>G:p.Gln72Arg	coding	Benign
2	237510755	G	A	G237510755A	MLPH	NM_024101.7(MLPH):c.292G>A:p.Glu98Lys	coding	Benign
2	237510755	G	T	G237510755T	MLPH	NM_024101.7(MLPH):c.292G>T:p.Glu98Ter	coding	Pathogenic
2	237510968	A	G	A237510968G	MLPH	NM_024101.7(MLPH):c.333-21A>G	coding	Benign
2	237511071	C	T	C237511071T	MLPH	NM_024101.7(MLPH):c.415C>T:p.Arg139Trp	coding	Benign
2	237511316	T	C	T237511316C	MLPH	NM_024101.7(MLPH):c.445+215T>C	noncoding	Benign
2	237518247	A	G	A237518247G	MLPH	NM_024101.7(MLPH):c.446-292A>G	noncoding	Benign
2	237518310	G	T	G237518310T	MLPH	NM_024101.7(MLPH):c.446-229G>T	noncoding	Benign
2	237518499	T	C	T237518499C	MLPH	NM_024101.7(MLPH):c.446-40T>C	noncoding	Benign
2	237518551	T	C	T237518551C	MLPH	NM_024101.7(MLPH):c.458T>C:p.Leu153Pro	coding	Benign
2	237518580	G	A	G237518580A	MLPH	NM_024101.7(MLPH):c.487G>A:p.Asp163Asn	coding	Benign/Likely_benign
2	237518608	G	A	G237518608A	MLPH	NM_024101.7(MLPH):c.515G>A:p.Gly172Asp	coding	Benign
2	237519613	T	C	T237519613C	MLPH	NM_024101.7(MLPH):c.556-297T>C	noncoding	Benign
2	237519684	T	C	T237519684C	MLPH	NM_024101.7(MLPH):c.556-226T>C	noncoding	Benign
2	237519687	A	G	A237519687G	MLPH	NM_024101.7(MLPH):c.556-223A>G	noncoding	Benign
2	237519775	G	A	G237519775A	MLPH	NM_024101.7(MLPH):c.556-135G>A	noncoding	Benign
2	237519811	T	C	T237519811C	MLPH	NM_024101.7(MLPH):c.556-99T>C	noncoding	Benign
2	237519816	G	A	G237519816A	MLPH	NM_024101.7(MLPH):c.556-94G>A	noncoding	Benign
2	237520180	A	T	A237520180T	MLPH	NM_024101.7(MLPH):c.675+151A>T	noncoding	Benign
2	237520318	G	A	G237520318A	MLPH	NM_024101.7(MLPH):c.675+289G>A	noncoding	Benign
2	237525312	T	C	T237525312C	MLPH	NM_024101.7(MLPH):c.676-289T>C	noncoding	Benign
2	237525322	T	C	T237525322C	MLPH	NM_024101.7(MLPH):c.676-279T>C	noncoding	Benign
2	237525606	C	T	C237525606T	MLPH	NM_024101.7(MLPH):c.681C>T:p.Leu227=	coding	Benign
2	237525791	C	T	C237525791T	MLPH	NM_024101.7(MLPH):c.866C>T:p.Thr289Ile	coding	Benign
2	237525962	A	G	A237525962G	MLPH	NM_024101.7(MLPH):c.880+157A>G	noncoding	Benign
2	237526059	T	G	T237526059G	MLPH	NM_024101.7(MLPH):c.880+254T>G	noncoding	Benign
2	237526062	A	G	A237526062G	MLPH	NM_024101.7(MLPH):c.880+257A>G	noncoding	Benign
2	237527820	T	C	T237527820C	MLPH	NM_024101.7(MLPH):c.1020+304T>C	noncoding	Benign
2	237534308	G	A	G237534308A	MLPH	NM_024101.7(MLPH):c.1021-256G>A	noncoding	Benign
2	237534357	C	T	C237534357T	MLPH	NM_024101.7(MLPH):c.1021-207C>T	noncoding	Benign
2	237534382	C	T	C237534382T	MLPH	NM_024101.7(MLPH):c.1021-182C>T	noncoding	Benign
2	237534583	A	G	A237534583G	MLPH	NM_024101.7(MLPH):c.1040A>G:p.His347Arg	coding	Benign
2	237534764	G	C	G237534764C	MLPH	NM_024101.7(MLPH):c.1104+117G>C	noncoding	Benign
2	237534840	C	T	C237534840T	MLPH	NM_024101.7(MLPH):c.1104+193C>T	noncoding	Benign
2	237534866	A	G	A237534866G	MLPH	NM_024101.7(MLPH):c.1104+219A>G	noncoding	Benign
2	237534899	T	C	T237534899C	MLPH	NM_024101.7(MLPH):c.1104+252T>C	noncoding	Benign
2	237539297	A	G	A237539297G	MLPH	NM_024101.7(MLPH):c.1105-1051A>G	noncoding	Benign
2	237540069	A	G	A237540069G	MLPH	NM_024101.7(MLPH):c.1105-279A>G	noncoding	Benign
2	237540110	A	G	A237540110G	MLPH	NM_024101.7(MLPH):c.1105-238A>G	noncoding	Benign
2	237540125	T	C	T237540125C	MLPH	NM_024101.7(MLPH):c.1105-223T>C	noncoding	Benign
2	237540364	T	C	T237540364C	MLPH	NM_024101.7(MLPH):c.1121T>C:p.Val374Ala	coding	Benign
2	237540380	T	C	T237540380C	MLPH	NM_024101.7(MLPH):c.1137T>C:p.Asp379=	coding	Benign
2	237540464	A	G	A237540464G	MLPH	NM_024101.7(MLPH):c.1221A>G:p.Glu407=	coding	Benign
2	237540465	G	T	G237540465T	MLPH	NM_024101.7(MLPH):c.1222G>T:p.Ala408Ser	coding	Benign
2	237540862	C	T	C237540862T	MLPH	NM_024101.7(MLPH):c.1351C>T:p.Pro451Ser	coding	Benign
2	237542524	G	A	G237542524A	MLPH	NM_024101.7(MLPH):c.1447-43G>A	noncoding	Benign
2	237546457	C	T	C237546457T	MLPH	NM_024101.7(MLPH):c.1540-149C>T	noncoding	Benign
2	237549041	A	G	A237549041G	MLPH	NM_024101.7(MLPH):c.1618-180A>G	noncoding	Benign
2	237549537	G	T	G237549537T	MLPH	NM_024101.7(MLPH):c.1675+259G>T	noncoding	Benign
2	237552091	A	G	A237552091G	MLPH	NM_024101.7(MLPH):c.1676-246A>G	noncoding	Benign
2	237553426	C	T	C237553426T	MLPH	NM_024101.7(MLPH):c.1777-140C>T	noncoding	Benign
2	237553681	A	G	A237553681G	MLPH	NM_024101.7(MLPH):c.*89A>G	noncoding	Benign
2	238256992	C	T	C238256992T	PER2	NM_022817.3(PER2):c.1995G>A:p.Ser665=	coding	Benign
2	238257022	T	C	T238257022C	PER2	NM_022817.3(PER2):c.1965A>G:p.Ala655=	coding	Benign
2	238320388	C	A	C238320388A	TRAF3IP1	Single_allele	noncoding	Benign
2	238320388	C	G	C238320388G	TRAF3IP1	Single_allele	noncoding	Benign
2	238320731	C	A	C238320731A	TRAF3IP1	NM_015650.4(TRAF3IP1):c.69C>A:p.Thr23=	coding	Benign
2	238320799	A	G	A238320799G	TRAF3IP1	NM_015650.4(TRAF3IP1):c.123+14A>G	noncoding	Benign
2	238320939	G	A	G238320939A	TRAF3IP1	NM_015650.4(TRAF3IP1):c.123+154G>A	noncoding	Benign
2	238321003	G	A	G238321003A	TRAF3IP1	NM_015650.4(TRAF3IP1):c.123+218G>A	noncoding	Benign
2	238325091	T	C	T238325091C	TRAF3IP1	NM_015650.4(TRAF3IP1):c.124-215T>C	noncoding	Benign
2	238325468	T	C	T238325468C	TRAF3IP1	NM_015650.4(TRAF3IP1):c.192+94T>C	noncoding	Benign
2	238325755	A	G	A238325755G	TRAF3IP1	NM_015650.4(TRAF3IP1):c.193-54A>G	noncoding	Benign
2	238328516	C	T	C238328516T	TRAF3IP1	NM_015650.4(TRAF3IP1):c.355-170C>T	noncoding	Benign
2	238328747	G	A	G238328747A	TRAF3IP1	NM_015650.4(TRAF3IP1):c.416G>A:p.Arg139Gln	coding	Benign
2	238329110	A	G	A238329110G	TRAF3IP1	NM_015650.4(TRAF3IP1):c.683A>G:p.Asn228Ser	coding	Benign
2	238329142	C	T	C238329142T	TRAF3IP1	NM_015650.4(TRAF3IP1):c.715C>T:p.Arg239Trp	coding	Benign
2	238329312	G	T	G238329312T	TRAF3IP1	NM_015650.4(TRAF3IP1):c.885G>T:p.Lys295Asn	coding	Benign
2	238329333	T	C	T238329333C	TRAF3IP1	NM_015650.4(TRAF3IP1):c.906T>C:p.Pro302=	coding	Benign
2	238332808	T	C	T238332808C	TRAF3IP1	NM_015650.4(TRAF3IP1):c.916-16T>C	noncoding	Benign
2	238333781	C	T	C238333781T	TRAF3IP1	NM_015650.4(TRAF3IP1):c.988-179C>T	noncoding	Benign
2	238333817	T	C	T238333817C	TRAF3IP1	NM_015650.4(TRAF3IP1):c.988-143T>C	noncoding	Benign
2	238334326	T	C	T238334326C	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1063+291T>C	noncoding	Benign
2	238338408	G	A	G238338408A	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1110G>A:p.Val370=	coding	Benign
2	238338533	A	G	A238338533G	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1159+76A>G	noncoding	Benign
2	238338572	G	A	G238338572A	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1159+115G>A	noncoding	Benign
2	238344366	T	C	T238344366C	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1160-131T>C	noncoding	Benign
2	238344552	T	C	T238344552C	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1215T>C:p.Ser405=	coding	Benign
2	238344583	A	T	A238344583T	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1246A>T:p.Thr416Ser	coding	Benign
2	238344625	C	A	C238344625A	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1261+27C>A	noncoding	Benign
2	238347125	A	G	A238347125G	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1262-330A>G	noncoding	Benign
2	238347638	A	T	A238347638T	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1282+163A>T	noncoding	Benign
2	238348569	C	T	C238348569T	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1283-195C>T	noncoding	Benign
2	238348856	T	A	T238348856A	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1367+8T>A	noncoding	Benign
2	238349364	C	G	C238349364G	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1407C>G:p.Pro469=	coding	Benign
2	238349516	A	G	A238349516G	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1451+108A>G	noncoding	Benign
2	238353225	G	A	G238353225A	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1612+16G>A	noncoding	Benign
2	238397441	A	G	A238397441G	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1690-18A>G	noncoding	Benign
2	238397627	A	C	A238397627C	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1858A>C:p.Met620Leu	coding	Benign
2	238398604	A	G	A238398604G	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1911-150A>G	noncoding	Benign
2	239053794	T	C	T239053794C	HDAC4	NM_001378414.1(HDAC4):c.3089-193A>G	noncoding	Benign
2	239053869	C	T	C239053869T	HDAC4	NM_001378414.1(HDAC4):c.3089-268G>A	noncoding	Benign
2	239054529	A	G	A239054529G	HDAC4	NM_001378414.1(HDAC4):c.3088+220T>C	noncoding	Benign
2	239054902	G	A	G239054902A	HDAC4	NM_001378414.1(HDAC4):c.3004-69C>T	noncoding	Benign
2	239066869	C	T	C239066869T	HDAC4	NM_001378414.1(HDAC4):c.2870-14G>A	noncoding	Benign
2	239066914	C	T	C239066914T	HDAC4	NM_001378414.1(HDAC4):c.2870-59G>A	noncoding	Benign
2	239066976	A	G	A239066976G	HDAC4	NM_001378414.1(HDAC4):c.2870-121T>C	noncoding	Benign
2	239068307	C	T	C239068307T	HDAC4	NM_001378414.1(HDAC4):c.2869+182G>A	noncoding	Benign
2	239068343	G	C	G239068343C	HDAC4	NM_001378414.1(HDAC4):c.2869+146C>G	noncoding	Benign
2	239068853	T	C	T239068853C	HDAC4	NM_001378414.1(HDAC4):c.2751-246A>G	coding	Benign
2	239068858	G	A	G239068858A	HDAC4	NM_001378414.1(HDAC4):c.2751-251C>T	coding	Benign
2	239068866	G	T	G239068866T	HDAC4	NM_001378414.1(HDAC4):c.2751-259C>A	coding	Benign
2	239081075	T	G	T239081075G	HDAC4	NM_001378414.1(HDAC4):c.2750+20A>C	noncoding	Benign/Likely_benign
2	239081769	C	T	C239081769T	HDAC4	NM_001378414.1(HDAC4):c.2652+333G>A	noncoding	Benign
2	239082117	G	A	G239082117A	HDAC4	NM_001378414.1(HDAC4):c.2637C>T:p.Ser879=	coding	Benign
2	239082174	G	A	G239082174A	HDAC4	NM_001378414.1(HDAC4):c.2580C>T:p.Pro860=	coding	Benign
2	239082177	G	A	G239082177A	HDAC4	NM_001378414.1(HDAC4):c.2577C>T:p.Asp859=	coding	Benign
2	239082428	A	C	A239082428C	HDAC4	NM_001378414.1(HDAC4):c.2533-207T>G	noncoding	Benign
2	239082502	C	G	C239082502G	HDAC4	NM_001378414.1(HDAC4):c.2533-281G>C	noncoding	Benign
2	239082547	G	A	G239082547A	HDAC4	NM_001378414.1(HDAC4):c.2533-326C>T	noncoding	Benign
2	239082549	C	T	C239082549T	HDAC4	NM_001378414.1(HDAC4):c.2533-328G>A	noncoding	Benign
2	239084454	C	T	C239084454T	HDAC4	NM_001378414.1(HDAC4):c.2445-212G>A	noncoding	Benign
2	239084465	G	A	G239084465A	HDAC4	NM_001378414.1(HDAC4):c.2445-223C>T	noncoding	Benign
2	239087384	T	C	T239087384C	HDAC4	NM_001378414.1(HDAC4):c.2444+175A>G	noncoding	Benign
2	239087503	G	A	G239087503A	HDAC4	NM_001378414.1(HDAC4):c.2444+56C>T	noncoding	Benign
2	239090021	T	C	T239090021C	HDAC4	NM_001378414.1(HDAC4):c.2376A>G:p.Thr792=	coding	Benign
2	239090451	T	A	T239090451A	HDAC4	NM_001378414.1(HDAC4):c.2281-335A>T	noncoding	Benign
2	239094707	A	G	A239094707G	HDAC4	NM_001378414.1(HDAC4):c.2280+303T>C	noncoding	Benign
2	239094792	A	G	A239094792G	HDAC4	NM_001378414.1(HDAC4):c.2280+218T>C	noncoding	Benign
2	239095075	C	T	C239095075T	HDAC4	NM_001378414.1(HDAC4):c.2234-19G>A	noncoding	Benign
2	239095128	A	G	A239095128G	HDAC4	NM_001378414.1(HDAC4):c.2234-72T>C	noncoding	Benign
2	239102958	G	A	G239102958A	HDAC4	NM_001378414.1(HDAC4):c.2113-62C>T	noncoding	Benign
2	239107794	C	T	C239107794T	HDAC4	NM_001378414.1(HDAC4):c.2112+256G>A	noncoding	Benign
2	239107795	A	G	A239107795G	HDAC4	NM_001378414.1(HDAC4):c.2112+255T>C	noncoding	Benign
2	239108040	T	C	T239108040C	HDAC4	NM_001378414.1(HDAC4):c.2112+10A>G	noncoding	Benign
2	239108366	G	A	G239108366A	HDAC4	NM_001378414.1(HDAC4):c.1979-183C>T	noncoding	Benign
2	239108426	A	G	A239108426G	HDAC4	NM_001378414.1(HDAC4):c.1979-243T>C	noncoding	Benign
2	239111989	T	C	T239111989C	HDAC4	NM_001378414.1(HDAC4):c.1792-277A>G	noncoding	Benign
2	239115263	C	T	C239115263T	HDAC4	NM_001378414.1(HDAC4):c.1581G>A:p.Pro527=	coding	Benign
2	239115336	G	A	G239115336A	HDAC4	NM_001378414.1(HDAC4):c.1534-26C>T	noncoding	Benign
2	239126140	T	G	T239126140G	HDAC4	NM_001378414.1(HDAC4):c.1533+316A>C	noncoding	Benign
2	239126331	C	T	C239126331T	HDAC4	NM_001378414.1(HDAC4):c.1533+125G>A	noncoding	Benign
2	239126444	C	T	C239126444T	HDAC4	NM_001378414.1(HDAC4):c.1533+12G>A	noncoding	Benign
2	239126785	C	T	C239126785T	HDAC4	NM_001378414.1(HDAC4):c.1295-91G>A	noncoding	Benign
2	239126809	G	A	G239126809A	HDAC4	NM_001378414.1(HDAC4):c.1295-115C>T	noncoding	Benign
2	239126848	C	T	C239126848T	HDAC4	NM_001378414.1(HDAC4):c.1295-154G>A	noncoding	Benign
2	239126872	C	T	C239126872T	HDAC4	NM_001378414.1(HDAC4):c.1295-178G>A	noncoding	Benign
2	239126885	T	G	T239126885G	HDAC4	NM_001378414.1(HDAC4):c.1295-191A>C	noncoding	Benign
2	239133982	G	A	G239133982A	HDAC4	NM_001378414.1(HDAC4):c.1294+263C>T	noncoding	Benign
2	239134146	G	A	G239134146A	HDAC4	NM_001378414.1(HDAC4):c.1294+99C>T	noncoding	Benign
2	239134177	A	G	A239134177G	HDAC4	NM_001378414.1(HDAC4):c.1294+68T>C	noncoding	Benign
2	239134205	G	A	G239134205A	HDAC4	NM_001378414.1(HDAC4):c.1294+40C>T	noncoding	Benign
2	239134235	T	C	T239134235C	HDAC4	NM_001378414.1(HDAC4):c.1294+10A>G	noncoding	Benign
2	239134270	C	T	C239134270T	HDAC4	NM_001378414.1(HDAC4):c.1269G>A:p.Pro423=	coding	Benign
2	239139533	G	A	G239139533A	HDAC4	NM_001378414.1(HDAC4):c.978+151C>T	noncoding	Benign
2	239139610	T	C	T239139610C	HDAC4	NM_001378414.1(HDAC4):c.978+74A>G	noncoding	Benign
2	239139670	C	T	C239139670T	HDAC4	NM_001378414.1(HDAC4):c.978+14G>A	noncoding	Benign
2	239139728	C	T	C239139728T	HDAC4	NM_001378414.1(HDAC4):c.934G>A:p.Ala312Thr	coding	Benign
2	239139953	A	G	A239139953G	HDAC4	NM_001378414.1(HDAC4):c.866-157T>C	noncoding	Benign
2	239140039	C	T	C239140039T	HDAC4	NM_001378414.1(HDAC4):c.866-243G>A	noncoding	Benign
2	239144337	C	G	C239144337G	HDAC4	NM_001378414.1(HDAC4):c.865+246G>C	noncoding	Benign
2	239144706	G	C	G239144706C	HDAC4	NM_001378414.1(HDAC4):c.742C>G:p.Pro248Ala	coding	Pathogenic
2	239144708	T	C	T239144708C	HDAC4	NM_001378414.1(HDAC4):c.740A>G:p.Glu247Gly	coding	Pathogenic
2	239144721	A	G	A239144721G	HDAC4	NM_001378414.1(HDAC4):c.734-7T>C	noncoding	Benign
2	239144830	T	C	T239144830C	HDAC4	NM_001378414.1(HDAC4):c.734-116A>G	noncoding	Benign
2	239156654	G	T	G239156654T	HDAC4	NM_001378414.1(HDAC4):c.731C>A:p.Thr244Lys	coding	Pathogenic
2	239156792	C	G	C239156792G	HDAC4	NM_001378414.1(HDAC4):c.612-19G>C	noncoding	Benign
2	239156965	C	T	C239156965T	HDAC4	NM_001378414.1(HDAC4):c.612-192G>A	noncoding	Benign
2	239163978	C	T	C239163978T	HDAC4	NM_001378414.1(HDAC4):c.491-55G>A	noncoding	Benign
2	239164099	A	C	A239164099C	HDAC4	NM_001378414.1(HDAC4):c.491-176T>G	noncoding	Benign
2	239164185	A	G	A239164185G	HDAC4	NM_001378414.1(HDAC4):c.491-262T>C	noncoding	Benign
2	239176372	G	A	G239176372A	HDAC4	NM_001378414.1(HDAC4):c.490+41C>T	noncoding	Benign
2	239189781	A	T	A239189781T	HDAC4	NM_001378414.1(HDAC4):c.339+52T>A	noncoding	Benign
2	239189811	G	A	G239189811A	HDAC4	NM_001378414.1(HDAC4):c.339+22C>T	noncoding	Benign
2	239189825	C	T	C239189825T	HDAC4	NM_001378414.1(HDAC4):c.339+8G>A	noncoding	Benign
2	239189860	G	A	G239189860A	HDAC4	NM_001378414.1(HDAC4):c.312C>T:p.His104=	coding	Benign
2	239190094	C	A	C239190094A	HDAC4	NM_001378414.1(HDAC4):c.95-17G>T	noncoding	Benign
2	239190318	G	A	G239190318A	HDAC4	NM_001378414.1(HDAC4):c.95-241C>T	noncoding	Benign
2	239236324	C	A	C239236324A	HDAC4	NM_001378414.1(HDAC4):c.94+269G>T	noncoding	Benign
2	239236558	G	A	G239236558A	HDAC4	NM_001378414.1(HDAC4):c.94+35C>T	noncoding	Benign
2	239236935	C	A	C239236935A	HDAC4	NM_001378414.1(HDAC4):c.23-271G>T	noncoding	Benign
2	239352670	G	A	G239352670A	HDAC4	NM_001378414.1(HDAC4):c.22+8C>T	noncoding	Benign
2	239352930	G	A	G239352930A	HDAC4	NM_001378414.1(HDAC4):c.-219-12C>T	noncoding	Benign
2	239990372	C	T	C239990372T	NDUFA10	NM_004544.4(NDUFA10):c.891-190G>A	noncoding	Benign
2	240011603	T	C	T240011603C	NDUFA10	NM_004544.4(NDUFA10):c.749+14A>G	noncoding	Benign
2	240014422	G	A	G240014422A	NDUFA10	NM_004544.4(NDUFA10):c.669+317C>T	noncoding	Benign
2	240014588	C	A	C240014588A	NDUFA10	NM_004544.4(NDUFA10):c.669+151G>T	noncoding	Benign
2	240014693	A	G	A240014693G	NDUFA10	NM_004544.4(NDUFA10):c.669+46T>C	noncoding	Benign
2	240015171	T	C	T240015171C	NDUFA10	NM_004544.4(NDUFA10):c.548-311A>G	noncoding	Benign
2	240018712	C	T	C240018712T	NDUFA10	NM_004544.4(NDUFA10):c.461-73G>A	noncoding	Benign
2	240022435	A	G	A240022435G	NDUFA10	NM_004544.4(NDUFA10):c.76-95T>C	noncoding	Benign
2	240025177	A	C	A240025177C	NDUFA10	NM_004544.4(NDUFA10):c.75+50T>G	noncoding	Benign
2	240025182	G	C	G240025182C	NDUFA10	NM_004544.4(NDUFA10):c.75+45C>G	noncoding	Benign
2	240025185	A	C	A240025185C	NDUFA10	NM_004544.4(NDUFA10):c.75+42T>G	noncoding	Benign
2	240025189	T	C	T240025189C	NDUFA10	NM_004544.4(NDUFA10):c.75+38A>G	noncoding	Benign
2	240025193	A	C	A240025193C	NDUFA10	NM_004544.4(NDUFA10):c.75+34T>G	noncoding	Benign
2	240025480	G	T	G240025480T	NDUFA10	Single_allele	noncoding	Benign
2	240025542	G	C	G240025542C	NDUFA10	Single_allele	noncoding	Benign
2	240593928	C	T	C240593928T	CAPN10	NM_023083.4(CAPN10):c.711C>T:p.Phe237=	coding	Benign
2	240596709	A	G	A240596709G	CAPN10	NM_023083.4(CAPN10):c.1510A>G:p.Thr504Ala	coding	Benign
2	240630275	C	T	C240630275T	GPR35	NM_005301.5(GPR35):c.323C>T:p.Thr108Met	coding	Benign
2	240692059	C	G	C240692059G	AQP12A	NM_198998.3(AQP12A):c.124-15C>G	noncoding	Benign
2	240692199	T	C	T240692199C	AQP12A	NM_198998.3(AQP12A):c.249T>C:p.Thr83=	coding	Benign
2	240692248	C	T	C240692248T	AQP12A	NM_198998.3(AQP12A):c.298C>T:p.Leu100=	coding	Benign
2	240692300	T	C	T240692300C	AQP12A	NM_198998.3(AQP12A):c.350T>C:p.Met117Thr	coding	Benign
2	240717646	C	T	C240717646T	KIF1A	NM_001244008.2(KIF1A):c.5334-240G>A	noncoding	Benign
2	240718921	T	C	T240718921C	KIF1A	NM_001244008.2(KIF1A):c.5214+85A>G	noncoding	Benign
2	240718924	C	T	C240718924T	KIF1A	NM_001244008.2(KIF1A):c.5214+82G>A	noncoding	Benign
2	240719928	T	G	T240719928G	KIF1A	NM_001244008.2(KIF1A):c.4869-2A>C	noncoding	Pathogenic
2	240720695	G	C	G240720695C	KIF1A	NM_001244008.2(KIF1A):c.4868+219C>G	noncoding	Benign
2	240721695	A	G	A240721695G	KIF1A	NM_001244008.2(KIF1A):c.4743+112T>C	noncoding	Benign
2	240721775	G	A	G240721775A	KIF1A	NM_001244008.2(KIF1A):c.4743+32C>T	noncoding	Benign
2	240721902	G	A	G240721902A	KIF1A	NM_001244008.2(KIF1A):c.4666-18C>T	noncoding	Benign
2	240723179	G	A	G240723179A	KIF1A	NM_001244008.2(KIF1A):c.4464+234C>T	noncoding	Benign
2	240723629	C	T	C240723629T	KIF1A	NM_001244008.2(KIF1A):c.4319-71G>A	noncoding	Benign
2	240723958	G	A	G240723958A	KIF1A	NM_001244008.2(KIF1A):c.4318+17C>T	noncoding	Benign/Likely_benign
2	240724272	G	C	G240724272C	KIF1A	NM_001244008.2(KIF1A):c.4257-236C>G	noncoding	Benign
2	240724943	G	C	G240724943C	KIF1A	NM_001244008.2(KIF1A):c.4256+328C>G	noncoding	Benign
2	240727001	G	A	G240727001A	KIF1A	NM_001244008.2(KIF1A):c.4008-61C>T	noncoding	Benign
2	240727211	G	A	G240727211A	KIF1A	NM_001244008.2(KIF1A):c.4008-271C>T	noncoding	Benign
2	240737359	G	A	G240737359A	KIF1A	NM_001244008.2(KIF1A):c.3902-191C>T	noncoding	Benign
2	240740280	G	A	G240740280A	KIF1A	NM_001244008.2(KIF1A):c.3816+18C>T	noncoding	Benign/Likely_benign
2	240741256	C	A	C240741256A	KIF1A	NM_001244008.2(KIF1A):c.3749+13G>T	noncoding	Benign
2	240741546	C	T	C240741546T	KIF1A	NM_001244008.2(KIF1A):c.3641-169G>A	noncoding	Benign
2	240743180	G	A	G240743180A	KIF1A	NM_001244008.2(KIF1A):c.3585-196C>T	noncoding	Benign
2	240743895	G	A	G240743895A	KIF1A	NM_001244008.2(KIF1A):c.3584+47C>T	noncoding	Benign
2	240744330	C	T	C240744330T	KIF1A	NM_001244008.2(KIF1A):c.3466-270G>A	noncoding	Benign
2	240745275	C	T	C240745275T	KIF1A	NM_001244008.2(KIF1A):c.3465+152G>A	noncoding	Benign
2	240747219	G	A	G240747219A	KIF1A	NM_001244008.2(KIF1A):c.3063+17C>T	noncoding	Benign/Likely_benign
2	240747246	T	G	T240747246G	KIF1A	NM_001244008.2(KIF1A):c.3053A>C:p.His1018Pro	coding	Benign
2	240750231	C	T	C240750231T	KIF1A	NM_001244008.2(KIF1A):c.2977+198G>A	noncoding	Benign
2	240750391	G	A	G240750391A	KIF1A	NM_001244008.2(KIF1A):c.2977+38C>T	noncoding	Benign
2	240750568	C	T	C240750568T	KIF1A	NM_001244008.2(KIF1A):c.2859-21G>A	noncoding	Benign
2	240757364	C	T	C240757364T	KIF1A	NM_001244008.2(KIF1A):c.2813G>A:p.Arg938Gln	coding	Benign/Likely_benign
2	240757483	G	C	G240757483C	KIF1A	NM_001244008.2(KIF1A):c.2694C>G:p.Thr898=	coding	Benign/Likely_benign
2	240758359	C	T	C240758359T	KIF1A	NM_001244008.2(KIF1A):c.2582+1G>A	noncoding	Pathogenic
2	240760720	C	A	C240760720A	KIF1A	NM_001244008.2(KIF1A):c.2389G>T:p.Glu797Ter	coding	Pathogenic
2	240760863	C	T	C240760863T	KIF1A	NM_001244008.2(KIF1A):c.2266-20G>A	noncoding	Benign
2	240761122	C	T	C240761122T	KIF1A	NM_001244008.2(KIF1A):c.2265+107G>A	noncoding	Benign
2	240761138	C	T	C240761138T	KIF1A	NM_001244008.2(KIF1A):c.2265+91G>A	noncoding	Benign
2	240766697	C	A	C240766697A	KIF1A	NM_001244008.2(KIF1A):c.1684+218G>T	noncoding	Benign
2	240766743	T	A	T240766743A	KIF1A	NM_001244008.2(KIF1A):c.1684+172A>T	noncoding	Benign
2	240766745	T	A	T240766745A	KIF1A	NM_001244008.2(KIF1A):c.1684+170A>T	noncoding	Benign
2	240766747	T	A	T240766747A	KIF1A	NM_001244008.2(KIF1A):c.1684+168A>T	noncoding	Benign
2	240766810	C	T	C240766810T	KIF1A	NM_001244008.2(KIF1A):c.1684+105G>A	noncoding	Benign
2	240767457	C	T	C240767457T	KIF1A	NM_001244008.2(KIF1A):c.1498-112G>A	noncoding	Benign
2	240768921	C	A	C240768921A	KIF1A	NM_001244008.2(KIF1A):c.1497+212G>T	noncoding	Benign
2	240769608	C	T	C240769608T	KIF1A	NM_001244008.2(KIF1A):c.1421+19G>A	noncoding	Benign/Likely_benign
2	240771405	C	A	C240771405A	KIF1A	NM_001244008.2(KIF1A):c.1208-301G>T	noncoding	Benign
2	240772367	G	C	G240772367C	KIF1A	NM_001244008.2(KIF1A):c.1207+203C>G	noncoding	Benign
2	240774189	G	A	G240774189A	KIF1A	NM_001244008.2(KIF1A):c.1031C>T:p.Thr344Met	coding	Pathogenic
2	240774207	T	C	T240774207C	KIF1A	NM_001244008.2(KIF1A):c.1013A>G:p.Tyr338Cys	coding	Pathogenic
2	240774219	G	A	G240774219A	KIF1A	NM_001244008.2(KIF1A):c.1001C>T:p.Ala334Val	coding	Pathogenic
2	240775875	T	G	T240775875G	KIF1A	NM_001244008.2(KIF1A):c.934A>C:p.Thr312Pro	coding	Pathogenic
2	240775890	G	A	G240775890A	KIF1A	NM_001244008.2(KIF1A):c.919C>T:p.Arg307Ter	coding	Pathogenic
2	240776129	G	A	G240776129A	KIF1A	NM_001244008.2(KIF1A):c.883-203C>T	noncoding	Benign
2	240783067	C	G	C240783067G	KIF1A	NM_001244008.2(KIF1A):c.841G>C:p.Val281Leu	coding	Pathogenic
2	240783107	C	A	C240783107A	KIF1A	NM_001244008.2(KIF1A):c.801G>T:p.Glu267Asp	coding	Pathogenic
2	240783525	C	T	C240783525T	KIF1A	NM_001244008.2(KIF1A):c.798+214G>A	noncoding	Benign
2	240783737	A	G	A240783737G	KIF1A	NM_001244008.2(KIF1A):c.798+2T>C	noncoding	Pathogenic
2	240783738	C	G	C240783738G	KIF1A	NM_001244008.2(KIF1A):c.798+1G>C	noncoding	Pathogenic
2	240783800	A	C	A240783800C	KIF1A	NM_001244008.2(KIF1A):c.737T>G:p.Leu246Arg	coding	Pathogenic
2	240784010	A	G	A240784010G	KIF1A	NM_001244008.2(KIF1A):c.721-194T>C	noncoding	Benign
2	240784821	G	C	G240784821C	KIF1A	NM_001244008.2(KIF1A):c.720+168C>G	noncoding	Benign
2	240785051	C	A	C240785051A	KIF1A	NM_001244008.2(KIF1A):c.658G>T:p.Val220Phe	coding	Pathogenic
2	240785056	T	C	T240785056C	KIF1A	NM_001244008.2(KIF1A):c.653A>G:p.His218Arg	coding	Pathogenic
2	240785065	C	T	C240785065T	KIF1A	NM_001244008.2(KIF1A):c.644G>A:p.Ser215Asn	coding	Pathogenic
2	240785261	G	A	G240785261A	KIF1A	NM_001244008.2(KIF1A):c.609-161C>T	noncoding	Benign
2	240785298	C	T	C240785298T	KIF1A	NM_001244008.2(KIF1A):c.609-198G>A	noncoding	Benign
2	240786422	A	G	A240786422G	KIF1A	NM_001244008.2(KIF1A):c.521T>C:p.Leu174Pro	coding	Pathogenic
2	240786476	T	A	T240786476A	KIF1A	NM_001244008.2(KIF1A):c.467A>T:p.Asp156Val	coding	Pathogenic
2	240787330	G	C	G240787330C	KIF1A	NM_001244008.2(KIF1A):c.364-14C>G	noncoding	Benign
2	240787623	C	T	C240787623T	KIF1A	NM_001244008.2(KIF1A):c.364-307G>A	noncoding	Benign
2	240787982	G	T	G240787982T	KIF1A	NM_001244008.2(KIF1A):c.363+69C>A	noncoding	Benign
2	240788042	G	C	G240788042C	KIF1A	NM_001244008.2(KIF1A):c.363+9C>G	noncoding	Benign/Likely_benign
2	240788053	G	A	G240788053A	KIF1A	NM_001244008.2(KIF1A):c.361C>T:p.Gln121Ter	coding	Pathogenic
2	240788182	C	G	C240788182G	KIF1A	NM_001244008.2(KIF1A):c.232G>C:p.Gly78Arg	coding	Pathogenic
2	240788182	C	T	C240788182T	KIF1A	NM_001244008.2(KIF1A):c.232G>A:p.Gly78Ser	coding	Pathogenic/Likely_pathogenic
2	240788462	C	T	C240788462T	KIF1A	NM_001244008.2(KIF1A):c.184-232G>A	noncoding	Benign
2	240797677	A	G	A240797677G	KIF1A	NM_001244008.2(KIF1A):c.76T>C:p.Cys26Arg	coding	Pathogenic
2	240797716	G	A	G240797716A	KIF1A	NM_001244008.2(KIF1A):c.37C>T:p.Arg13Cys	coding	Pathogenic/Likely_pathogenic
2	240797721	C	T	C240797721T	KIF1A	NM_001244008.2(KIF1A):c.32G>A:p.Arg11Gln	coding	Pathogenic/Likely_pathogenic
2	240797722	G	A	G240797722A	KIF1A	NM_001244008.2(KIF1A):c.31C>T:p.Arg11Trp	coding	Pathogenic/Likely_pathogenic
2	240868820	G	A	G240868820A	AGXT	NM_000030.2(AGXT):c.-46G>A	noncoding	Benign/Likely_benign
2	240868897	C	G	C240868897G	AGXT	NM_000030.3(AGXT):c.32C>G:p.Pro11Arg	coding	Pathogenic/Likely_pathogenic
2	240869219	A	T	A240869219T	AGXT	NM_000030.3(AGXT):c.215A>T:p.Asn72Ile	coding	Pathogenic
2	240869249	G	A	G240869249A	AGXT	NM_000030.3(AGXT):c.245G>A:p.Gly82Glu	coding	Pathogenic/Likely_pathogenic
2	240869350	G	A	G240869350A	AGXT	NM_000030.3(AGXT):c.346G>A:p.Gly116Arg	coding	Pathogenic/Likely_pathogenic
2	240869525	G	T	G240869525T	AGXT	NM_000030.3(AGXT):c.358+163G>T	noncoding	Benign
2	240870481	C	T	C240870481T	AGXT	NM_000030.3(AGXT):c.359-163C>T	noncoding	Benign
2	240870737	C	T	C240870737T	AGXT	NM_000030.3(AGXT):c.423+29C>T	noncoding	Benign
2	240870753	T	G	T240870753G	AGXT	NM_000030.3(AGXT):c.423+45T>G	noncoding	Benign
2	240871333	G	A	G240871333A	AGXT	NM_000030.3(AGXT):c.424-16G>A	noncoding	Benign
2	240871540	C	T	C240871540T	AGXT	NM_000030.3(AGXT):c.524+91C>T	noncoding	Benign
2	240872763	G	A	G240872763A	AGXT	NM_000030.3(AGXT):c.525-216G>A	noncoding	Benign
2	240872911	T	G	T240872911G	AGXT	NM_000030.3(AGXT):c.525-68T>G	noncoding	Benign
2	240872977	A	G	A240872977G	AGXT	NM_000030.3(AGXT):c.525-2A>G	noncoding	Pathogenic
2	240873149	G	A	G240873149A	AGXT	NM_000030.3(AGXT):c.595+100G>A	noncoding	Benign
2	240873200	G	A	G240873200A	AGXT	NM_000030.3(AGXT):c.595+151G>A	noncoding	Benign
2	240873280	G	C	G240873280C	AGXT	NM_000030.3(AGXT):c.595+231G>C	noncoding	Benign
2	240873770	C	T	C240873770T	AGXT	NM_000030.3(AGXT):c.596-208C>T	noncoding	Benign
2	240874035	C	T	C240874035T	AGXT	NM_000030.3(AGXT):c.653C>T:p.Ser218Leu	coding	Pathogenic/Likely_pathogenic
2	240874266	C	G	C240874266G	AGXT	NM_000030.3(AGXT):c.680+204C>G	noncoding	Benign
2	240875273	C	T	C240875273T	AGXT	NM_000030.3(AGXT):c.776+69C>T	noncoding	Benign
2	240875858	G	A	G240875858A	AGXT	NM_000030.3(AGXT):c.777-77G>A	noncoding	Benign
2	240875890	C	T	C240875890T	AGXT	NM_000030.3(AGXT):c.777-45C>T	noncoding	Benign
2	240875891	A	G	A240875891G	AGXT	NM_000030.3(AGXT):c.777-44A>G	noncoding	Benign
2	240876056	G	A	G240876056A	AGXT	NM_000030.3(AGXT):c.846+52G>A	noncoding	Benign
2	240876174	C	T	C240876174T	AGXT	NM_000030.3(AGXT):c.846+170C>T	noncoding	Benign
2	240876203	G	A	G240876203A	AGXT	NM_000030.3(AGXT):c.846+199G>A	noncoding	Benign
2	240877454	G	T	G240877454T	AGXT	NM_000030.3(AGXT):c.847-83G>T	noncoding	Benign
2	240877536	G	C	G240877536C	AGXT	NM_000030.3(AGXT):c.847-1G>C	noncoding	Pathogenic/Likely_pathogenic
2	240877644	C	G	C240877644G	AGXT	NM_000030.3(AGXT):c.942+12C>G	noncoding	Benign/Likely_benign
2	240877759	C	T	C240877759T	AGXT	NM_000030.3(AGXT):c.942+127C>T	noncoding	Benign
2	240877855	G	T	G240877855T	AGXT	NM_000030.3(AGXT):c.943-167G>T	noncoding	Benign
2	240877905	C	T	C240877905T	AGXT	NM_000030.3(AGXT):c.943-117C>T	noncoding	Benign
2	240878075	G	A	G240878075A	AGXT	NM_000030.3(AGXT):c.996G>A:p.Trp332Ter	coding	Pathogenic/Likely_pathogenic
2	240878128	G	A	G240878128A	AGXT	NM_000030.3(AGXT):c.1049G>A:p.Gly350Asp	coding	Pathogenic/Likely_pathogenic
2	240878313	A	G	A240878313G	AGXT	NM_000030.3(AGXT):c.1071+163A>G	noncoding	Benign
2	240878495	C	G	C240878495G	AGXT	NM_000030.3(AGXT):c.1072-219C>G	noncoding	Benign
2	240878510	C	T	C240878510T	AGXT	NM_000030.3(AGXT):c.1072-204C>T	noncoding	Benign
2	240878600	G	A	G240878600A	AGXT	NM_000030.3(AGXT):c.1072-114G>A	noncoding	Benign
2	240878721	G	A	G240878721A	AGXT	NM_000030.3(AGXT):c.1079G>A:p.Arg360Gln	coding	Pathogenic/Likely_pathogenic
2	241071669	T	C	T241071669C	SNED1	NM_001080437.3(SNED1):c.3683T>C:p.Leu1228Pro	coding	Benign
2	241188699	C	T	C241188699T	ANO7	NM_001370694.2(ANO7):c.-75C>T	coding	Benign
2	241189001	G	A	G241189001A	ANO7	NM_001370694.2(ANO7):c.-8+235G>A	noncoding	Benign
2	241189032	G	A	G241189032A	ANO7	NM_001370694.2(ANO7):c.-8+266G>A	noncoding	Benign
2	241189851	C	T	C241189851T	ANO7	NM_001370694.2(ANO7):c.-7-206C>T	noncoding	Benign
2	241190030	A	G	A241190030G	ANO7	NM_001370694.2(ANO7):c.-7-27A>G	noncoding	Benign
2	241190072	G	T	G241190072T	ANO7	NM_001370694.2(ANO7):c.9G>T:p.Arg3=	coding	Benign
2	241190100	G	A	G241190100A	ANO7	NM_001370694.2(ANO7):c.37G>A:p.Val13Ile	coding	Benign
2	241190168	G	A	G241190168A	ANO7	NM_001370694.2(ANO7):c.105G>A:p.Ser35=	coding	Benign
2	241190354	T	G	T241190354G	ANO7	NM_001370694.2(ANO7):c.108+183T>G	noncoding	Benign
2	241190416	A	G	A241190416G	ANO7	NM_001370694.2(ANO7):c.108+245A>G	noncoding	Benign
2	241191524	T	A	T241191524A	ANO7	NM_001370694.2(ANO7):c.166+273T>A	noncoding	Benign
2	241195442	A	G	A241195442G	ANO7	NM_001370694.2(ANO7):c.167-261A>G	noncoding	Benign
2	241195602	A	C	A241195602C	ANO7	NM_001370694.2(ANO7):c.167-101A>C	noncoding	Benign
2	241195842	C	A	C241195842A	ANO7	NM_001370694.2(ANO7):c.306C>A:p.Asp102Glu	coding	Benign
2	241199075	A	G	A241199075G	ANO7	NM_001370694.2(ANO7):c.310-241A>G	noncoding	Benign
2	241199497	C	T	C241199497T	ANO7	NM_001370694.2(ANO7):c.417+74C>T	noncoding	Benign
2	241199637	G	A	G241199637A	ANO7	NM_001370694.2(ANO7):c.417+214G>A	noncoding	Benign
2	241200076	C	T	C241200076T	ANO7	NM_001370694.2(ANO7):c.418-13C>T	noncoding	Benign
2	241200157	G	T	G241200157T	ANO7	NM_001370694.2(ANO7):c.486G>T:p.Leu162=	coding	Benign
2	241200185	G	A	G241200185A	ANO7	NM_001370694.2(ANO7):c.514G>A:p.Glu172Lys	coding	Benign
2	241200438	C	A	C241200438A	ANO7	NM_001370694.2(ANO7):c.554+213C>A	noncoding	Benign
2	241200464	C	T	C241200464T	ANO7	NM_001370694.2(ANO7):c.554+239C>T	noncoding	Benign
2	241201370	C	G	C241201370G	ANO7	NM_001370694.2(ANO7):c.612+15C>G	noncoding	Benign
2	241202098	C	T	C241202098T	ANO7	NM_001370694.2(ANO7):c.613-96C>T	noncoding	Benign
2	241202226	C	G	C241202226G	ANO7	NM_001370694.2(ANO7):c.645C>G:p.Gly215=	coding	Benign
2	241202304	C	T	C241202304T	ANO7	NM_001370694.2(ANO7):c.723C>T:p.Asp241=	coding	Benign
2	241202511	C	T	C241202511T	ANO7	NM_001370694.2(ANO7):c.723+207C>T	noncoding	Benign
2	241203093	G	A	G241203093A	ANO7	NM_001370694.2(ANO7):c.724-240G>A	noncoding	Benign
2	241203506	C	T	C241203506T	ANO7	NM_001370694.2(ANO7):c.889+8C>T	noncoding	Benign
2	241203635	C	T	C241203635T	ANO7	NM_001370694.2(ANO7):c.889+137C>T	noncoding	Benign
2	241203754	G	A	G241203754A	ANO7	NM_001370694.2(ANO7):c.889+256G>A	noncoding	Benign
2	241204594	G	A	G241204594A	ANO7	NM_001370694.2(ANO7):c.890-271G>A	noncoding	Benign
2	241207680	G	A	G241207680A	ANO7	NM_001370694.2(ANO7):c.1077+10G>A	noncoding	Benign
2	241207743	C	A	C241207743A	ANO7	NM_001370694.2(ANO7):c.1077+73C>A	noncoding	Benign
2	241209349	T	A	T241209349A	ANO7	NM_001370694.2(ANO7):c.1142T>A:p.Val381Glu	coding	Benign
2	241209595	C	T	C241209595T	ANO7	NM_001370694.2(ANO7):c.1319C>T:p.Ala440Val	coding	Benign
2	241209658	G	A	G241209658A	ANO7	NM_001370694.2(ANO7):c.1359+23G>A	noncoding	Benign
2	241209764	A	G	A241209764G	ANO7	NM_001370694.2(ANO7):c.1359+129A>G	noncoding	Benign
2	241209826	T	C	T241209826C	ANO7	NM_001370694.2(ANO7):c.1359+191T>C	noncoding	Benign
2	241210360	G	A	G241210360A	ANO7	NM_001370694.2(ANO7):c.1425G>A:p.Val475=	coding	Benign
2	241210463	G	A	G241210463A	ANO7	NM_001370694.2(ANO7):c.1459-5G>A	noncoding	Benign
2	241212102	C	T	C241212102T	ANO7	NM_001370694.2(ANO7):c.1570C>T:p.Arg524Cys	coding	Benign
2	241212170	C	T	C241212170T	ANO7	NM_001370694.2(ANO7):c.1638C>T:p.Tyr546=	coding	Benign
2	241212180	G	A	G241212180A	ANO7	NM_001370694.2(ANO7):c.1648G>A:p.Val550Ile	coding	Benign
2	241212333	G	C	G241212333C	ANO7	NM_001370694.2(ANO7):c.1673+128G>C	noncoding	Benign
2	241212359	T	C	T241212359C	ANO7	NM_001370694.2(ANO7):c.1673+154T>C	noncoding	Benign
2	241212376	C	G	C241212376G	ANO7	NM_001370694.2(ANO7):c.1673+171C>G	noncoding	Benign
2	241214600	A	G	A241214600G	ANO7	NM_001370694.2(ANO7):c.1729-205A>G	noncoding	Benign
2	241215892	C	A	C241215892A	ANO7	NM_001370694.2(ANO7):c.1827-201C>A	noncoding	Benign
2	241216186	C	T	C241216186T	ANO7	NM_001370694.2(ANO7):c.1920C>T:p.Asp640=	coding	Benign
2	241216192	T	C	T241216192C	ANO7	NM_001370694.2(ANO7):c.1926T>C:p.Tyr642=	coding	Benign
2	241216484	C	G	C241216484G	ANO7	NM_001370694.2(ANO7):c.1972+246C>G	noncoding	Benign
2	241217388	G	A	G241217388A	ANO7	NM_001370694.2(ANO7):c.1973-298G>A	noncoding	Benign
2	241217672	C	T	C241217672T	ANO7	NM_001370694.2(ANO7):c.1973-14C>T	noncoding	Benign
2	241217769	A	C	A241217769C	ANO7	NM_001370694.2(ANO7):c.2056A>C:p.Ile686Leu	coding	Benign
2	241217813	G	C	G241217813C	ANO7	NM_001370694.2(ANO7):c.2100G>C:p.Pro700=	coding	Benign
2	241217813	G	T	G241217813T	ANO7	NM_001370694.2(ANO7):c.2100G>T:p.Pro700=	coding	Benign
2	241217826	G	A	G241217826A	ANO7	NM_001370694.2(ANO7):c.2113G>A:p.Ala705Thr	coding	Benign
2	241218325	C	T	C241218325T	ANO7	NM_001370694.2(ANO7):c.2265C>T:p.Asn755=	coding	Benign
2	241223317	G	C	G241223317C	ANO7	NM_001370694.2(ANO7):c.2412+41G>C	noncoding	Benign
2	241223814	C	G	C241223814G	ANO7	NM_001370694.2(ANO7):c.2532+33C>G	noncoding	Benign
2	241223944	G	A	G241223944A	ANO7	NM_001370694.2(ANO7):c.2572G>A:p.Glu858Lys	coding	Benign
2	241224046	C	G	C241224046G	ANO7	NM_001370694.2(ANO7):c.2584-51C>G	noncoding	Benign
2	241224123	G	A	G241224123A	ANO7	NM_001370694.2(ANO7):c.2610G>A:p.Thr870=	coding	Benign
2	241224319	C	T	C241224319T	ANO7	NM_001370694.2(ANO7):c.*166C>T	noncoding	Benign
2	241224412	C	T	C241224412T	ANO7	NM_001370694.2(ANO7):c.*259C>T	noncoding	Benign
2	241678598	C	T	C241678598T	DTYMK	NM_012145.4(DTYMK):c.382G>A:p.Asp128Asn	coding	Pathogenic
2	241680264	C	T	C241680264T	DTYMK	NM_012145.4(DTYMK):c.295G>A:p.Ala99Thr	coding	Pathogenic
2	241680317	G	A	G241680317A	DTYMK	NM_012145.4(DTYMK):c.242C>T:p.Pro81Leu	coding	Pathogenic
2	241734898	A	C	A241734898C	D2HGDH	NM_152783.5(D2HGDH):c.-93+203A>C	noncoding	Benign
2	241734936	C	G	C241734936G	D2HGDH	NM_152783.5(D2HGDH):c.-92-197C>G	noncoding	Benign
2	241734937	C	G	C241734937G	D2HGDH	NM_152783.5(D2HGDH):c.-92-196C>G	noncoding	Benign
2	241735317	G	T	G241735317T	D2HGDH	NM_152783.5(D2HGDH):c.93G>T:p.Leu31=	coding	Benign
2	241740814	G	A	G241740814A	D2HGDH	NM_152783.5(D2HGDH):c.293-219G>A	noncoding	Benign
2	241740951	A	G	A241740951G	D2HGDH	NM_152783.5(D2HGDH):c.293-82A>G	noncoding	Benign
2	241740960	C	T	C241740960T	D2HGDH	NM_152783.5(D2HGDH):c.293-73C>T	noncoding	Benign
2	241741010	A	T	A241741010T	D2HGDH	NM_152783.5(D2HGDH):c.293-23A>T	noncoding	Benign
2	241741015	A	G	A241741015G	D2HGDH	NM_152783.5(D2HGDH):c.293-18A>G	noncoding	Benign
2	241741066	C	G	C241741066G	D2HGDH	NM_152783.5(D2HGDH):c.326C>G:p.Ser109Trp	coding	Pathogenic
2	241742590	C	T	C241742590T	D2HGDH	NM_152783.5(D2HGDH):c.490+16C>T	noncoding	Benign
2	241742594	C	T	C241742594T	D2HGDH	NM_152783.5(D2HGDH):c.490+20C>T	noncoding	Benign
2	241742614	T	C	T241742614C	D2HGDH	NM_152783.5(D2HGDH):c.490+40T>C	noncoding	Benign
2	241743429	T	C	T241743429C	D2HGDH	NM_152783.5(D2HGDH):c.491-193T>C	noncoding	Benign
2	241743604	C	T	C241743604T	D2HGDH	NM_152783.5(D2HGDH):c.491-18C>T	noncoding	Benign
2	241743959	T	C	T241743959C	D2HGDH	NM_152783.5(D2HGDH):c.684+144T>C	noncoding	Benign
2	241744577	A	G	A241744577G	D2HGDH	NM_152783.5(D2HGDH):c.685-132A>G	noncoding	Benign
2	241744979	G	C	G241744979C	D2HGDH	NM_152783.5(D2HGDH):c.853+102G>C	noncoding	Benign
2	241751606	C	G	C241751606G	D2HGDH	NM_152783.5(D2HGDH):c.1140+218C>G	noncoding	Benign
2	241756082	T	C	T241756082C	D2HGDH	NM_152783.5(D2HGDH):c.1306+68T>C	noncoding	Benign
2	241767505	C	G	C241767505G	D2HGDH	NM_152783.5(D2HGDH):c.1307-205C>G	noncoding	Benign
2	241767541	C	T	C241767541T	D2HGDH	NM_152783.5(D2HGDH):c.1307-169C>T	noncoding	Benign
2	241767686	A	G	A241767686G	D2HGDH	NM_152783.5(D2HGDH):c.1307-24A>G	noncoding	Benign
2	241767691	T	C	T241767691C	D2HGDH	NM_152783.5(D2HGDH):c.1307-19T>C	noncoding	Benign
2	241850169	C	T	C241850169T	PDCD1	NM_005018.3(PDCD1):c.*889G>A	noncoding	Benign
2	241851121	A	G	A241851121G	PDCD1	NM_005018.3(PDCD1):c.804T>C:p.Ala268=	coding	Benign
2	241851281	G	A	G241851281A	PDCD1	NM_005018.3(PDCD1):c.644C>T:p.Ala215Val	coding	Benign
2	241851407	T	C	T241851407C	PDCD1	NM_005018.3(PDCD1):c.628-110A>G	noncoding	Benign
2	241851697	G	A	G241851697A	PDCD1	NM_005018.3(PDCD1):c.627+252C>T	noncoding	Benign
2	241851760	C	T	C241851760T	PDCD1	NM_005018.3(PDCD1):c.627+189G>A	noncoding	Benign
2	241852039	G	C	G241852039C	PDCD1	NM_005018.3(PDCD1):c.593-56C>G	noncoding	Benign
2	241852468	C	T	C241852468T	PDCD1	NM_005018.3(PDCD1):c.437-115G>A	noncoding	Benign
2	241853160	C	G	C241853160G	PDCD1	NM_005018.3(PDCD1):c.77-180G>C	noncoding	Benign
2	241853198	A	G	A241853198G	PDCD1	NM_005018.3(PDCD1):c.77-218T>C	noncoding	Benign
2	241858637	C	G	C241858637G	PDCD1	NM_005018.3(PDCD1):c.76+126G>C	noncoding	Benign
2	241858748	G	A	G241858748A	PDCD1	NM_005018.3(PDCD1):c.76+15C>T	noncoding	Benign
3	326074	G	C	G326074C	CHL1	NM_006614.4(CHL1):c.197+10G>C	noncoding	Benign
3	1327594	G	A	G1327594A	CNTN6	NM_001289080.2(CNTN6):c.1213+8G>A	noncoding	Benign
3	2492876	C	A	C2492876A	CNTN4	NM_175607.3(CNTN4):c.-88-78540C>A	noncoding	Benign
3	2493088	G	A	G2493088A	CNTN4	NM_175607.3(CNTN4):c.-88-78328G>A	noncoding	Benign
3	2542692	G	T	G2542692T	CNTN4	NM_175607.3(CNTN4):c.-88-28724G>T	noncoding	Benign
3	2543055	A	G	A2543055G	CNTN4	NM_175607.3(CNTN4):c.-88-28361A>G	noncoding	Benign
3	2571094	G	A	G2571094A	CNTN4	NM_175607.3(CNTN4):c.-88-322G>A	noncoding	Benign
3	2571317	A	G	A2571317G	CNTN4	NM_175607.3(CNTN4):c.-88-99A>G	noncoding	Benign
3	2642630	A	G	A2642630G	CNTN4	NM_175607.3(CNTN4):c.55+71072A>G	noncoding	Benign
3	2642673	A	G	A2642673G	CNTN4	NM_175607.3(CNTN4):c.55+71115A>G	noncoding	Benign
3	2692523	A	C	A2692523C	CNTN4	NM_175607.3(CNTN4):c.56-43692A>C	noncoding	Benign
3	2735938	A	G	A2735938G	CNTN4	NM_175607.3(CNTN4):c.56-277A>G	noncoding	Benign
3	2736142	T	C	T2736142C	CNTN4	NM_175607.3(CNTN4):c.56-73T>C	noncoding	Benign
3	2742470	G	T	G2742470T	CNTN4	NM_175607.3(CNTN4):c.183-3052G>T	noncoding	Benign
3	2745724	A	C	A2745724C	CNTN4	NM_175607.3(CNTN4):c.358+27A>C	noncoding	Benign
3	2745848	A	G	A2745848G	CNTN4	NM_175607.3(CNTN4):c.358+151A>G	noncoding	Benign
3	2792713	G	A	G2792713A	CNTN4	NM_175607.3(CNTN4):c.359-26773G>A	noncoding	Benign
3	2792714	G	A	G2792714A	CNTN4	NM_175607.3(CNTN4):c.359-26772G>A	noncoding	Benign
3	2842205	G	A	G2842205A	CNTN4	NM_175607.3(CNTN4):c.454+22624G>A	noncoding	Benign
3	2866651	A	G	A2866651G	CNTN4	NM_175607.3(CNTN4):c.455-101A>G	noncoding	Benign
3	2867010	A	G	A2867010G	CNTN4	NM_175607.3(CNTN4):c.652+61A>G	noncoding	Benign
3	2882942	T	G	T2882942G	CNTN4	NM_175607.3(CNTN4):c.653-203T>G	noncoding	Benign
3	2883002	G	A	G2883002A	CNTN4	NM_175607.3(CNTN4):c.653-143G>A	noncoding	Benign
3	2883112	T	G	T2883112G	CNTN4	NM_175607.3(CNTN4):c.653-33T>G	noncoding	Benign
3	2883260	T	G	T2883260G	CNTN4	NM_175607.3(CNTN4):c.755+13T>G	noncoding	Benign
3	2883302	A	G	A2883302G	CNTN4	NM_175607.3(CNTN4):c.755+55A>G	noncoding	Benign
3	2883331	T	C	T2883331C	CNTN4	NM_175607.3(CNTN4):c.755+84T>C	noncoding	Benign
3	2883346	A	G	A2883346G	CNTN4	NM_175607.3(CNTN4):c.755+99A>G	noncoding	Benign
3	2883446	G	A	G2883446A	CNTN4	NM_175607.3(CNTN4):c.755+199G>A	noncoding	Benign
3	2886988	A	G	A2886988G	CNTN4	NM_175607.3(CNTN4):c.756-52A>G	noncoding	Benign
3	2892166	G	A	G2892166A	CNTN4	NM_175607.3(CNTN4):c.940+4942G>A	noncoding	Benign
3	2892236	C	A	C2892236A	CNTN4	NM_175607.3(CNTN4):c.940+5012C>A	coding	Benign
3	2892258	T	C	T2892258C	CNTN4	NM_175607.3(CNTN4):c.940+5034T>C	coding	Benign
3	2902692	G	A	G2902692A	CNTN4	NM_175607.3(CNTN4):c.1078-184G>A	noncoding	Benign
3	2942115	C	G	C2942115G	CNTN4	NM_175607.3(CNTN4):c.1358+16336C>G	noncoding	Benign
3	2942143	A	T	A2942143T	CNTN4	NM_175607.3(CNTN4):c.1358+16364A>T	noncoding	Benign
3	2942264	A	G	A2942264G	CNTN4	NM_175607.3(CNTN4):c.1358+16485A>G	noncoding	Benign
3	2988120	C	T	C2988120T	CNTN4	NM_175607.3(CNTN4):c.1359-225C>T	noncoding	Benign
3	2988539	C	A	C2988539A	CNTN4	NM_175607.3(CNTN4):c.1486+67C>A	noncoding	Benign
3	2991942	A	G	A2991942G	CNTN4	NM_175607.3(CNTN4):c.1486+3470A>G	noncoding	Benign
3	2992152	G	C	G2992152C	CNTN4	NM_175607.3(CNTN4):c.1486+3680G>C	noncoding	Benign
3	2992278	C	T	C2992278T	CNTN4	NM_175607.3(CNTN4):c.1486+3806C>T	noncoding	Benign
3	3026016	A	T	A3026016T	CNTN4	NM_175607.3(CNTN4):c.1487-86A>T	noncoding	Benign
3	3026166	A	G	A3026166G	CNTN4	NM_175607.3(CNTN4):c.1551A>G:p.Leu517=	coding	Benign
3	3026169	G	A	G3026169A	CNTN4	NM_175607.3(CNTN4):c.1554G>A:p.Pro518=	coding	Benign
3	3026443	C	G	C3026443G	CNTN4	NM_175607.3(CNTN4):c.1662+166C>G	noncoding	Benign
3	3026464	C	T	C3026464T	CNTN4	NM_175607.3(CNTN4):c.1662+187C>T	noncoding	Benign
3	3030643	C	T	C3030643T	CNTN4	NM_175607.3(CNTN4):c.1663-212C>T	noncoding	Benign
3	3030677	C	T	C3030677T	CNTN4	NM_175607.3(CNTN4):c.1663-178C>T	noncoding	Benign
3	3030681	G	A	G3030681A	CNTN4	NM_175607.3(CNTN4):c.1663-174G>A	noncoding	Benign
3	3030697	A	G	A3030697G	CNTN4	NM_175607.3(CNTN4):c.1663-158A>G	noncoding	Benign
3	3030780	C	G	C3030780G	CNTN4	NM_175607.3(CNTN4):c.1663-75C>G	noncoding	Benign
3	3031228	G	A	G3031228A	CNTN4	NM_175607.3(CNTN4):c.1783+253G>A	noncoding	Benign
3	3034534	G	A	G3034534A	CNTN4	NM_175607.3(CNTN4):c.1784-98G>A	noncoding	Benign
3	3034575	C	T	C3034575T	CNTN4	NM_175607.3(CNTN4):c.1784-57C>T	noncoding	Benign
3	3034600	G	C	G3034600C	CNTN4	NM_175607.3(CNTN4):c.1784-32G>C	noncoding	Benign
3	3034717	C	T	C3034717T	CNTN4	NM_175607.3(CNTN4):c.1869C>T:p.Asn623=	coding	Benign
3	3034759	A	G	A3034759G	CNTN4	NM_175607.3(CNTN4):c.1911A>G:p.Pro637=	coding	Benign
3	3034831	A	G	A3034831G	CNTN4	NM_175607.3(CNTN4):c.1942+41A>G	noncoding	Benign
3	3036919	A	G	A3036919G	CNTN4	NM_175607.3(CNTN4):c.1943-260A>G	noncoding	Benign
3	3037130	T	C	T3037130C	CNTN4	NM_175607.3(CNTN4):c.1943-49T>C	noncoding	Benign
3	3037156	C	T	C3037156T	CNTN4	NM_175607.3(CNTN4):c.1943-23C>T	noncoding	Benign
3	3037443	T	G	T3037443G	CNTN4	NM_175607.3(CNTN4):c.2092+115T>G	noncoding	Benign
3	3037647	A	G	A3037647G	CNTN4	NM_175607.3(CNTN4):c.2092+319A>G	noncoding	Benign
3	3038768	G	A	G3038768A	CNTN4	NM_175607.3(CNTN4):c.2093-165G>A	noncoding	Benign
3	3038825	C	T	C3038825T	CNTN4	NM_175607.3(CNTN4):c.2093-108C>T	noncoding	Benign
3	3038843	C	T	C3038843T	CNTN4	NM_175607.3(CNTN4):c.2093-90C>T	noncoding	Benign
3	3038927	G	C	G3038927C	CNTN4	NM_175607.3(CNTN4):c.2093-6G>C	noncoding	Benign
3	3039832	A	G	A3039832G	CNTN4	NM_175607.3(CNTN4):c.2164-205A>G	coding	Benign
3	3039860	C	T	C3039860T	CNTN4	NM_175607.3(CNTN4):c.2164-177C>T	coding	Benign
3	3040066	A	T	A3040066T	CNTN4	NM_175607.3(CNTN4):c.2193A>T:p.Arg731=	coding	Benign
3	3040141	T	C	T3040141C	CNTN4	NM_175607.3(CNTN4):c.2268T>C:p.Asp756=	coding	Benign
3	3040275	T	C	T3040275C	CNTN4	NM_175607.3(CNTN4):c.2398+4T>C	coding	Benign
3	3040319	T	A	T3040319A	CNTN4	NM_175607.3(CNTN4):c.2398+48T>A	coding	Benign
3	3040341	G	T	G3040341T	CNTN4	NM_175607.3(CNTN4):c.2398+70G>T	coding	Benign
3	3040452	G	A	G3040452A	CNTN4	NM_175607.3(CNTN4):c.2398+181G>A	noncoding	Benign
3	3042463	A	G	A3042463G	CNTN4	NM_175607.3(CNTN4):c.2511+41A>G	noncoding	Benign
3	3042587	T	C	T3042587C	CNTN4	NM_175607.3(CNTN4):c.2511+165T>C	noncoding	Benign
3	3042595	C	T	C3042595T	CNTN4	NM_175607.3(CNTN4):c.2511+173C>T	noncoding	Benign
3	3042756	T	G	T3042756G	CNTN4	NM_175607.3(CNTN4):c.2512-221T>G	noncoding	Benign
3	3042759	A	T	A3042759T	CNTN4	NM_175607.3(CNTN4):c.2512-218A>T	noncoding	Benign
3	3042969	C	T	C3042969T	CNTN4	NM_175607.3(CNTN4):c.2512-8C>T	coding	Benign
3	3043320	C	T	C3043320T	CNTN4	NM_175607.3(CNTN4):c.2698+157C>T	noncoding	Benign
3	3053720	G	A	G3053720A	CNTN4	NM_175607.3(CNTN4):c.2812-87G>A	noncoding	Benign
3	3053757	G	C	G3053757C	CNTN4	NM_175607.3(CNTN4):c.2812-50G>C	noncoding	Benign
3	3056357	G	C	G3056357C	CNTN4	NM_175607.3(CNTN4):c.*137G>C	noncoding	Benign
3	3126875	T	C	T3126875C	TRNT1	Single_allele	noncoding	Benign
3	3126901	C	T	C3126901T	TRNT1	Single_allele	noncoding	Benign
3	3126942	C	A	C3126942A	TRNT1	NM_182916.3(TRNT1):c.-76C>A	noncoding	Benign
3	3127088	C	A	C3127088A	TRNT1	NM_182916.3(TRNT1):c.-28+98C>A	noncoding	Benign
3	3128947	C	G	C3128947G	TRNT1	NM_182916.3(TRNT1):c.-27-67C>G	noncoding	Benign
3	3129113	C	T	C3129113T	TRNT1	NM_182916.3(TRNT1):c.73C>T:p.Gln25Ter	coding	Pathogenic
3	3129145	C	T	C3129145T	TRNT1	NM_182916.3(TRNT1):c.105C>T:p.Pro35=	coding	Benign/Likely_benign
3	3129216	T	C	T3129216C	TRNT1	NM_182916.3(TRNT1):c.148+28T>C	noncoding	Benign
3	3129226	A	G	A3129226G	TRNT1	NM_182916.3(TRNT1):c.148+38A>G	noncoding	Benign
3	3137578	A	T	A3137578T	TRNT1	NM_182916.3(TRNT1):c.342+125A>T	noncoding	Benign
3	3137687	A	T	A3137687T	TRNT1	NM_182916.3(TRNT1):c.342+234A>T	noncoding	Benign
3	3144560	T	A	T3144560A	TRNT1	NM_182916.3(TRNT1):c.482-24T>A	noncoding	Benign
3	3144888	T	C	T3144888C	TRNT1	NM_182916.3(TRNT1):c.608+178T>C	noncoding	Benign
3	3144947	C	T	C3144947T	TRNT1	NM_182916.3(TRNT1):c.608+237C>T	noncoding	Benign
3	3146332	A	G	A3146332G	TRNT1	NM_182916.3(TRNT1):c.609-98A>G	noncoding	Benign
3	3146565	T	C	T3146565C	TRNT1	NM_182916.3(TRNT1):c.744T>C:p.Gly248=	coding	Benign
3	3146762	G	T	G3146762T	TRNT1	NM_182916.3(TRNT1):c.802+139G>T	noncoding	Benign
3	3147375	T	C	T3147375C	TRNT1	NM_182916.3(TRNT1):c.803-75T>C	noncoding	Benign
3	3147476	G	T	G3147476T	TRNT1	NM_182916.3(TRNT1):c.829G>T:p.Glu277Ter	coding	Pathogenic
3	3147494	A	T	A3147494T	TRNT1	NM_182916.3(TRNT1):c.847A>T:p.Lys283Ter	coding	Pathogenic
3	3147748	G	A	G3147748A	TRNT1	NM_182916.3(TRNT1):c.1056+45G>A	noncoding	Benign
3	3148255	T	C	T3148255C	TRNT1	NM_182916.3(TRNT1):c.*101T>C	noncoding	Benign
3	3156187	T	C	T3156187C	CRBN	NM_016302.4(CRBN):c.750+32A>G	noncoding	Benign
3	3156234	A	G	A3156234G	CRBN	NM_016302.4(CRBN):c.735T>C:p.Tyr245=	coding	Benign
3	3172870	G	A	G3172870A	CRBN	NM_016302.4(CRBN):c.433C>T:p.Arg145Ter	coding	Pathogenic
3	4376305	A	C	A4376305C	SUMF1	NM_182760.4(SUMF1):c.1014+25T>G	noncoding	Benign
3	4410916	C	T	C4410916T	SUMF1	NM_182760.4(SUMF1):c.903G>A:p.Trp301Ter	coding	Pathogenic
3	4410923	C	T	C4410923T	SUMF1	NM_182760.4(SUMF1):c.896G>A:p.Trp299Ter	coding	Pathogenic
3	4410943	G	C	G4410943C	SUMF1	NM_182760.4(SUMF1):c.876C>G:p.Tyr292Ter	coding	Pathogenic
3	4417132	G	A	G4417132A	SUMF1	NM_182760.4(SUMF1):c.836C>T:p.Ala279Val	coding	Pathogenic/Likely_pathogenic
3	4417142	G	A	G4417142A	SUMF1	NM_182760.4(SUMF1):c.826C>T:p.Gln276Ter	coding	Pathogenic
3	4417178	C	A	C4417178A	SUMF1	NM_182760.4(SUMF1):c.790G>T:p.Glu264Ter	coding	Pathogenic
3	4417802	C	T	C4417802T	SUMF1	NM_182760.4(SUMF1):c.725+208G>A	noncoding	Benign
3	4417996	G	A	G4417996A	SUMF1	NM_182760.4(SUMF1):c.725+14C>T	noncoding	Benign
3	4418029	G	A	G4418029A	SUMF1	NM_182760.4(SUMF1):c.706C>T:p.Arg236Ter	coding	Pathogenic
3	4418103	C	T	C4418103T	SUMF1	NM_182760.4(SUMF1):c.632G>A:p.Trp211Ter	coding	Pathogenic
3	4418134	T	A	T4418134A	SUMF1	NM_182760.4(SUMF1):c.603-2A>T	noncoding	Pathogenic
3	4418436	A	G	A4418436G	SUMF1	NM_182760.4(SUMF1):c.603-304T>C	noncoding	Benign
3	4420127	C	T	C4420127T	SUMF1	NM_182760.4(SUMF1):c.539G>A:p.Trp180Ter	coding	Pathogenic
3	4420129	C	T	C4420129T	SUMF1	NM_182760.4(SUMF1):c.537G>A:p.Trp179Ter	coding	Pathogenic
3	4449274	G	A	G4449274A	SUMF1	NM_182760.4(SUMF1):c.511C>T:p.Gln171Ter	coding	Pathogenic
3	4449334	T	A	T4449334A	SUMF1	NM_182760.4(SUMF1):c.451A>T:p.Lys151Ter	coding	Pathogenic
3	4449342	T	C	T4449342C	SUMF1	NM_182760.4(SUMF1):c.445-2A>G	noncoding	Pathogenic
3	4449442	A	G	A4449442G	SUMF1	NM_182760.4(SUMF1):c.445-102T>C	noncoding	Benign/Likely_benign
3	4453147	T	C	T4453147C	SUMF1	NM_182760.4(SUMF1):c.271-98A>G	noncoding	Benign
3	4467055	G	T	G4467055T	SUMF1	NM_182760.4(SUMF1):c.191C>A:p.Ser64Ter	coding	Pathogenic/Likely_pathogenic
3	4467090	G	T	G4467090T	SUMF1	NM_182760.4(SUMF1):c.156C>A:p.Cys52Ter	coding	Pathogenic
3	4467096	G	T	G4467096T	SUMF1	NM_182760.4(SUMF1):c.150C>A:p.Cys50Ter	coding	Pathogenic
3	4467203	C	A	C4467203A	SUMF1	NM_182760.4(SUMF1):c.43G>T:p.Glu15Ter	coding	Pathogenic
3	4467396	C	G	C4467396G	SUMF1	Single_allele	noncoding	Benign
3	4516331	A	G	A4516331G	ITPR1	NM_001378452.1(ITPR1):c.-16-145A>G	noncoding	Benign
3	4516420	T	C	T4516420C	ITPR1	NM_001378452.1(ITPR1):c.-16-56T>C	noncoding	Benign
3	4516612	C	G	C4516612G	ITPR1	NM_001378452.1(ITPR1):c.92+29C>G	noncoding	Benign
3	4520983	T	G	T4520983G	ITPR1	NM_001378452.1(ITPR1):c.93-41T>G	noncoding	Benign
3	4521037	C	T	C4521037T	ITPR1	NM_001378452.1(ITPR1):c.106C>T:p.Arg36Cys	coding	Pathogenic
3	4521226	G	C	G4521226C	ITPR1	NM_001378452.1(ITPR1):c.163+132G>C	noncoding	Benign
3	4627431	T	C	T4627431C	ITPR1	NM_001378452.1(ITPR1):c.164-332T>C	noncoding	Benign
3	4627538	G	A	G4627538A	ITPR1	NM_001378452.1(ITPR1):c.164-225G>A	noncoding	Benign
3	4627560	A	C	A4627560C	ITPR1	NM_001378452.1(ITPR1):c.164-203A>C	noncoding	Benign
3	4628008	G	A	G4628008A	ITPR1	NM_001378452.1(ITPR1):c.279+130G>A	noncoding	Benign
3	4628033	G	C	G4628033C	ITPR1	NM_001378452.1(ITPR1):c.279+155G>C	noncoding	Benign
3	4641922	G	C	G4641922C	ITPR1	NM_001378452.1(ITPR1):c.367-171G>C	noncoding	Benign
3	4644116	A	G	A4644116G	ITPR1	NM_001378452.1(ITPR1):c.526-20A>G	noncoding	Benign
3	4644252	T	C	T4644252C	ITPR1	NM_001378452.1(ITPR1):c.624+18T>C	noncoding	Benign/Likely_benign
3	4645130	C	T	C4645130T	ITPR1	NM_001378452.1(ITPR1):c.625-257C>T	noncoding	Benign
3	4645178	A	G	A4645178G	ITPR1	NM_001378452.1(ITPR1):c.625-209A>G	noncoding	Benign
3	4645595	G	A	G4645595A	ITPR1	NM_001378452.1(ITPR1):c.722G>A:p.Arg241Lys	coding	Pathogenic/Likely_pathogenic
3	4645621	T	C	T4645621C	ITPR1	NM_001378452.1(ITPR1):c.748T>C:p.Phe250Leu	coding	Pathogenic/Likely_pathogenic
3	4645673	C	G	C4645673G	ITPR1	NM_001378452.1(ITPR1):c.800C>G:p.Thr267Arg	coding	Pathogenic/Likely_pathogenic
3	4645679	G	T	G4645679T	ITPR1	NM_001378452.1(ITPR1):c.806G>T:p.Arg269Leu	coding	Pathogenic
3	4645743	G	C	G4645743C	ITPR1	NM_001378452.1(ITPR1):c.855+15G>C	noncoding	Benign
3	4645746	A	G	A4645746G	ITPR1	NM_001378452.1(ITPR1):c.855+18A>G	noncoding	Benign/Likely_benign
3	4645814	T	A	T4645814A	ITPR1	NM_001378452.1(ITPR1):c.855+86T>A	noncoding	Benign
3	4645893	A	G	A4645893G	ITPR1	NM_001378452.1(ITPR1):c.855+165A>G	noncoding	Benign
3	4645969	T	G	T4645969G	ITPR1	NM_001378452.1(ITPR1):c.855+241T>G	noncoding	Benign
3	4646036	T	C	T4646036C	ITPR1	NM_001378452.1(ITPR1):c.855+308T>C	noncoding	Benign
3	4651869	C	A	C4651869A	ITPR1	NM_001378452.1(ITPR1):c.856-254C>A	noncoding	Benign
3	4651972	C	T	C4651972T	ITPR1	NM_001378452.1(ITPR1):c.856-151C>T	noncoding	Benign
3	4652253	G	C	G4652253C	ITPR1	NM_001378452.1(ITPR1):c.951+35G>C	noncoding	Benign
3	4652259	G	A	G4652259A	ITPR1	NM_001378452.1(ITPR1):c.951+41G>A	noncoding	Benign
3	4652269	G	A	G4652269A	ITPR1	NM_001378452.1(ITPR1):c.951+51G>A	noncoding	Benign
3	4652275	C	T	C4652275T	ITPR1	NM_001378452.1(ITPR1):c.951+57C>T	noncoding	Benign
3	4652293	G	A	G4652293A	ITPR1	NM_001378452.1(ITPR1):c.951+75G>A	noncoding	Benign
3	4652326	A	C	A4652326C	ITPR1	NM_001378452.1(ITPR1):c.951+108A>C	noncoding	Benign
3	4652327	G	A	G4652327A	ITPR1	NM_001378452.1(ITPR1):c.951+109G>A	noncoding	Benign
3	4652384	C	G	C4652384G	ITPR1	NM_001378452.1(ITPR1):c.951+166C>G	noncoding	Benign
3	4652486	T	G	T4652486G	ITPR1	NM_001378452.1(ITPR1):c.951+268T>G	noncoding	Benign
3	4653686	A	G	A4653686G	ITPR1	NM_001378452.1(ITPR1):c.952-156A>G	noncoding	Benign
3	4653996	G	A	G4653996A	ITPR1	NM_001378452.1(ITPR1):c.996+110G>A	noncoding	Benign
3	4657960	G	A	G4657960A	ITPR1	NM_001378452.1(ITPR1):c.997-164G>A	noncoding	Benign
3	4658043	T	C	T4658043C	ITPR1	NM_001378452.1(ITPR1):c.997-81T>C	noncoding	Benign
3	4658092	T	C	T4658092C	ITPR1	NM_001378452.1(ITPR1):c.997-32T>C	noncoding	Benign
3	4661113	C	T	C4661113T	ITPR1	NM_001378452.1(ITPR1):c.1251+26C>T	noncoding	Benign
3	4661863	T	C	T4661863C	ITPR1	NM_001378452.1(ITPR1):c.1252-219T>C	noncoding	Benign
3	4661874	A	G	A4661874G	ITPR1	NM_001378452.1(ITPR1):c.1252-208A>G	noncoding	Benign
3	4661973	T	A	T4661973A	ITPR1	NM_001378452.1(ITPR1):c.1252-109T>A	noncoding	Benign
3	4662210	A	G	A4662210G	ITPR1	NM_001378452.1(ITPR1):c.1380A>G:p.Leu460=	coding	Benign/Likely_benign
3	4662952	T	C	T4662952C	ITPR1	NM_001378452.1(ITPR1):c.1413-113T>C	noncoding	Benign
3	4663223	G	A	G4663223A	ITPR1	NM_001378452.1(ITPR1):c.1554+17G>A	noncoding	Benign/Likely_benign
3	4663434	A	G	A4663434G	ITPR1	NM_001378452.1(ITPR1):c.1554+228A>G	noncoding	Benign
3	4665288	A	G	A4665288G	ITPR1	NM_001378452.1(ITPR1):c.1705A>G:p.Lys569Glu	coding	Pathogenic
3	4665569	G	A	G4665569A	ITPR1	NM_001378452.1(ITPR1):c.1713+273G>A	noncoding	Benign
3	4667240	G	A	G4667240A	ITPR1	NM_001378452.1(ITPR1):c.1714-137G>A	noncoding	Benign
3	4667313	G	T	G4667313T	ITPR1	NM_001378452.1(ITPR1):c.1714-64G>T	noncoding	Benign
3	4667444	C	T	C4667444T	ITPR1	NM_001378452.1(ITPR1):c.1781C>T:p.Thr594Ile	coding	Pathogenic
3	4667569	C	A	C4667569A	ITPR1	NM_001378452.1(ITPR1):c.1886+20C>A	noncoding	Benign
3	4667849	C	T	C4667849T	ITPR1	NM_001378452.1(ITPR1):c.1886+300C>T	noncoding	Benign
3	4669449	C	A	C4669449A	ITPR1	NM_001378452.1(ITPR1):c.1887-205C>A	noncoding	Benign
3	4669935	G	A	G4669935A	ITPR1	NM_001378452.1(ITPR1):c.2006+162G>A	noncoding	Benign
3	4670002	C	T	C4670002T	ITPR1	NM_001378452.1(ITPR1):c.2006+229C>T	noncoding	Benign
3	4670550	G	A	G4670550A	ITPR1	NM_001378452.1(ITPR1):c.2007-179G>A	noncoding	Benign
3	4670726	T	C	T4670726C	ITPR1	NM_001378452.1(ITPR1):c.2007-3T>C	noncoding	Benign/Likely_benign
3	4670909	C	T	C4670909T	ITPR1	NM_001378452.1(ITPR1):c.2187C>T:p.Asp729=	coding	Benign/Likely_benign
3	4671026	A	T	A4671026T	ITPR1	NM_001378452.1(ITPR1):c.2204+100A>T	noncoding	Benign
3	4672816	A	G	A4672816G	ITPR1	NM_001378452.1(ITPR1):c.2205-320A>G	noncoding	Benign
3	4672825	G	A	G4672825A	ITPR1	NM_001378452.1(ITPR1):c.2205-311G>A	noncoding	Benign
3	4673308	C	T	C4673308T	ITPR1	NM_001378452.1(ITPR1):c.2377C>T:p.Arg793Ter	coding	Pathogenic
3	4673581	G	T	G4673581T	ITPR1	NM_001378452.1(ITPR1):c.2456+194G>T	noncoding	Benign
3	4674530	T	C	T4674530C	ITPR1	NM_001378452.1(ITPR1):c.2598+187T>C	noncoding	Benign
3	4674851	G	A	G4674851A	ITPR1	NM_001378452.1(ITPR1):c.2599-217G>A	noncoding	Benign
3	4674988	T	C	T4674988C	ITPR1	NM_001378452.1(ITPR1):c.2599-80T>C	noncoding	Benign
3	4675031	T	G	T4675031G	ITPR1	NM_001378452.1(ITPR1):c.2599-37T>G	noncoding	Benign
3	4675222	G	A	G4675222A	ITPR1	NM_001378452.1(ITPR1):c.2753G>A:p.Gly918Asp	coding	Pathogenic
3	4676476	A	G	A4676476G	ITPR1	NM_001378452.1(ITPR1):c.2780-138A>G	noncoding	Benign
3	4676848	G	A	G4676848A	ITPR1	NM_001378452.1(ITPR1):c.2967+47G>A	noncoding	Benign
3	4676987	C	G	C4676987G	ITPR1	NM_001378452.1(ITPR1):c.2967+186C>G	noncoding	Benign
3	4680228	A	G	A4680228G	ITPR1	NM_001378452.1(ITPR1):c.2968-325A>G	noncoding	Benign
3	4680704	G	A	G4680704A	ITPR1	NM_001378452.1(ITPR1):c.3106+13G>A	noncoding	Benign
3	4680848	A	G	A4680848G	ITPR1	NM_001378452.1(ITPR1):c.3106+157A>G	noncoding	Benign
3	4680909	T	G	T4680909G	ITPR1	NM_001378452.1(ITPR1):c.3106+218T>G	noncoding	Benign
3	4680947	C	T	C4680947T	ITPR1	NM_001378452.1(ITPR1):c.3106+256C>T	noncoding	Benign
3	4681100	C	T	C4681100T	ITPR1	NM_001378452.1(ITPR1):c.3107-264C>T	noncoding	Benign
3	4681272	A	G	A4681272G	ITPR1	NM_001378452.1(ITPR1):c.3107-92A>G	noncoding	Benign
3	4681666	A	G	A4681666G	ITPR1	NM_001378452.1(ITPR1):c.3161+248A>G	noncoding	Benign
3	4683565	C	A	C4683565A	ITPR1	NM_001378452.1(ITPR1):c.3327+14C>A	noncoding	Benign
3	4684003	A	G	A4684003G	ITPR1	NM_001378452.1(ITPR1):c.3498+205A>G	noncoding	Benign
3	4684589	C	T	C4684589T	ITPR1	NM_001378452.1(ITPR1):c.3564+243C>T	noncoding	Benign
3	4685263	T	G	T4685263G	ITPR1	NM_001378452.1(ITPR1):c.3702+57T>G	noncoding	Benign
3	4685328	A	G	A4685328G	ITPR1	NM_001378452.1(ITPR1):c.3702+122A>G	noncoding	Benign
3	4688158	A	G	A4688158G	ITPR1	NM_001378452.1(ITPR1):c.3703-337A>G	noncoding	Benign
3	4690986	G	A	G4690986A	ITPR1	NM_001378452.1(ITPR1):c.3829-158G>A	noncoding	Benign
3	4691479	T	A	T4691479A	ITPR1	NM_001378452.1(ITPR1):c.4029+135T>A	noncoding	Benign
3	4691529	C	G	C4691529G	ITPR1	NM_001378452.1(ITPR1):c.4029+185C>G	noncoding	Benign
3	4691585	C	G	C4691585G	ITPR1	NM_001378452.1(ITPR1):c.4029+241C>G	noncoding	Benign
3	4693473	C	T	C4693473T	ITPR1	NM_001378452.1(ITPR1):c.4030-17C>T	noncoding	Benign/Likely_benign
3	4693624	C	T	C4693624T	ITPR1	NM_001378452.1(ITPR1):c.4164C>T:p.Val1388=	coding	Benign/Likely_benign
3	4693844	T	C	T4693844C	ITPR1	NM_001378452.1(ITPR1):c.4281+103T>C	noncoding	Benign
3	4693846	G	T	G4693846T	ITPR1	NM_001378452.1(ITPR1):c.4281+105G>T	noncoding	Benign
3	4693849	C	T	C4693849T	ITPR1	NM_001378452.1(ITPR1):c.4281+108C>T	noncoding	Benign
3	4696969	T	C	T4696969C	ITPR1	NM_001378452.1(ITPR1):c.4282-178T>C	noncoding	Benign
3	4697090	A	G	A4697090G	ITPR1	NM_001378452.1(ITPR1):c.4282-57A>G	noncoding	Benign
3	4699600	G	A	G4699600A	ITPR1	NM_001378452.1(ITPR1):c.4408-213G>A	noncoding	Benign
3	4699713	C	T	C4699713T	ITPR1	NM_001378452.1(ITPR1):c.4408-100C>T	noncoding	Benign
3	4700046	G	A	G4700046A	ITPR1	NM_001378452.1(ITPR1):c.4536+105G>A	noncoding	Benign
3	4700137	A	G	A4700137G	ITPR1	NM_001378452.1(ITPR1):c.4536+196A>G	noncoding	Benign
3	4700204	G	A	G4700204A	ITPR1	NM_001378452.1(ITPR1):c.4536+263G>A	noncoding	Benign
3	4700567	A	G	A4700567G	ITPR1	NM_001378452.1(ITPR1):c.4536+626A>G	noncoding	Benign
3	4700592	A	G	A4700592G	ITPR1	NM_001378452.1(ITPR1):c.4536+651A>G	noncoding	Benign
3	4703151	G	A	G4703151A	ITPR1	NM_001378452.1(ITPR1):c.4657+201G>A	noncoding	Benign
3	4705910	G	A	G4705910A	ITPR1	NM_001378452.1(ITPR1):c.4658-257G>A	noncoding	Benign
3	4706509	G	A	G4706509A	ITPR1	NM_001378452.1(ITPR1):c.4842+158G>A	noncoding	Benign
3	4710038	G	A	G4710038A	ITPR1	NM_001378452.1(ITPR1):c.4843-287G>A	noncoding	Benign
3	4710118	T	G	T4710118G	ITPR1	NM_001378452.1(ITPR1):c.4843-207T>G	noncoding	Benign
3	4710784	C	T	C4710784T	ITPR1	NM_001378452.1(ITPR1):c.4991+311C>T	noncoding	Benign
3	4711494	C	T	C4711494T	ITPR1	NM_001378452.1(ITPR1):c.4992-263C>T	noncoding	Benign
3	4711614	G	A	G4711614A	ITPR1	NM_001378452.1(ITPR1):c.4992-143G>A	noncoding	Benign
3	4711736	C	T	C4711736T	ITPR1	NM_001378452.1(ITPR1):c.4992-21C>T	noncoding	Benign
3	4711828	T	C	T4711828C	ITPR1	NM_001378452.1(ITPR1):c.5063T>C:p.Leu1688Pro	coding	Pathogenic
3	4712028	A	G	A4712028G	ITPR1	NM_001378452.1(ITPR1):c.5103+160A>G	noncoding	Benign
3	4717068	A	G	A4717068G	ITPR1	NM_001378452.1(ITPR1):c.5104-299A>G	noncoding	Benign
3	4717449	G	A	G4717449A	ITPR1	NM_001378452.1(ITPR1):c.5136+50G>A	noncoding	Benign
3	4717522	T	A	T4717522A	ITPR1	NM_001378452.1(ITPR1):c.5136+123T>A	noncoding	Benign
3	4733144	G	A	G4733144A	ITPR1	NM_001378452.1(ITPR1):c.5277G>A:p.Ser1759=	coding	Benign/Likely_benign
3	4734978	T	G	T4734978G	ITPR1	NM_001378452.1(ITPR1):c.5354-186T>G	noncoding	Benign
3	4735100	A	G	A4735100G	ITPR1	NM_001378452.1(ITPR1):c.5354-64A>G	noncoding	Benign
3	4766991	C	T	C4766991T	ITPR1	NM_001378452.1(ITPR1):c.5725+281C>T	noncoding	Benign
3	4768285	T	C	T4768285C	ITPR1	NM_001378452.1(ITPR1):c.5726-226T>C	noncoding	Benign
3	4768545	C	T	C4768545T	ITPR1	NM_001378452.1(ITPR1):c.5760C>T:p.Val1920=	coding	Benign/Likely_benign
3	4768551	T	C	T4768551C	ITPR1	NM_001378452.1(ITPR1):c.5766T>C:p.Asp1922=	coding	Benign/Likely_benign
3	4768782	G	A	G4768782A	ITPR1	NM_001378452.1(ITPR1):c.5979+18G>A	noncoding	Benign/Likely_benign
3	4768889	T	G	T4768889G	ITPR1	NM_001378452.1(ITPR1):c.5979+125T>G	noncoding	Benign
3	4768918	C	T	C4768918T	ITPR1	NM_001378452.1(ITPR1):c.5979+154C>T	noncoding	Benign
3	4775117	T	G	T4775117G	ITPR1	NM_001378452.1(ITPR1):c.5980-125T>G	noncoding	Benign
3	4775373	T	C	T4775373C	ITPR1	NM_001378452.1(ITPR1):c.6111T>C:p.Asn2037=	coding	Benign
3	4777108	T	C	T4777108C	ITPR1	NM_001378452.1(ITPR1):c.6181-156T>C	noncoding	Benign
3	4777704	C	T	C4777704T	ITPR1	NM_001378452.1(ITPR1):c.6291+330C>T	noncoding	Benign
3	4779335	G	A	G4779335A	ITPR1	NM_001378452.1(ITPR1):c.6292-215G>A	noncoding	Benign
3	4779497	C	A	C4779497A	ITPR1	NM_001378452.1(ITPR1):c.6292-53C>A	noncoding	Benign
3	4782328	T	C	T4782328C	ITPR1	NM_001378452.1(ITPR1):c.6388-291T>C	noncoding	Benign
3	4782447	T	C	T4782447C	ITPR1	NM_001378452.1(ITPR1):c.6388-172T>C	noncoding	Benign
3	4784099	T	A	T4784099A	ITPR1	NM_001378452.1(ITPR1):c.6615+179T>A	noncoding	Benign
3	4784146	C	T	C4784146T	ITPR1	NM_001378452.1(ITPR1):c.6615+226C>T	noncoding	Benign
3	4787728	A	G	A4787728G	ITPR1	NM_001378452.1(ITPR1):c.6616-219A>G	noncoding	Benign
3	4787737	G	A	G4787737A	ITPR1	NM_001378452.1(ITPR1):c.6616-210G>A	noncoding	Benign
3	4787891	T	C	T4787891C	ITPR1	NM_001378452.1(ITPR1):c.6616-56T>C	noncoding	Benign
3	4788415	A	G	A4788415G	ITPR1	NM_001378452.1(ITPR1):c.6808+276A>G	noncoding	Benign
3	4794778	C	T	C4794778T	ITPR1	NM_001378452.1(ITPR1):c.6809-287C>T	noncoding	Benign
3	4800782	T	C	T4800782C	ITPR1	NM_001378452.1(ITPR1):c.7107+182T>C	noncoding	Benign
3	4800804	G	T	G4800804T	ITPR1	NM_001378452.1(ITPR1):c.7107+204G>T	noncoding	Benign
3	4800905	C	G	C4800905G	ITPR1	NM_001378452.1(ITPR1):c.7107+305C>G	noncoding	Benign
3	4811050	A	C	A4811050C	ITPR1	NM_001378452.1(ITPR1):c.7273-215A>C	noncoding	Benign
3	4814364	A	G	A4814364G	ITPR1	NM_001378452.1(ITPR1):c.7562-59A>G	noncoding	Benign
3	4814375	T	G	T4814375G	ITPR1	NM_001378452.1(ITPR1):c.7562-48T>G	noncoding	Benign
3	4814403	G	A	G4814403A	ITPR1	NM_001378452.1(ITPR1):c.7562-20G>A	noncoding	Benign
3	4814600	C	G	C4814600G	ITPR1	NM_001378452.1(ITPR1):c.7701+38C>G	noncoding	Benign
3	4814601	G	A	G4814601A	ITPR1	NM_001378452.1(ITPR1):c.7701+39G>A	noncoding	Benign
3	4814604	T	G	T4814604G	ITPR1	NM_001378452.1(ITPR1):c.7701+42T>G	noncoding	Benign
3	4814609	T	G	T4814609G	ITPR1	NM_001378452.1(ITPR1):c.7701+47T>G	noncoding	Benign
3	4814727	C	T	C4814727T	ITPR1	NM_001378452.1(ITPR1):c.7701+165C>T	noncoding	Benign
3	4814746	G	A	G4814746A	ITPR1	NM_001378452.1(ITPR1):c.7701+184G>A	noncoding	Benign
3	4814966	T	C	T4814966C	ITPR1	NM_001378452.1(ITPR1):c.7702-87T>C	noncoding	Benign
3	4815070	T	A	T4815070A	ITPR1	NM_001378452.1(ITPR1):c.7719T>A:p.Ala2573=	coding	Benign/Likely_benign
3	4815309	C	G	C4815309G	ITPR1	NM_001378452.1(ITPR1):c.7867+91C>G	noncoding	Benign
3	4818041	G	A	G4818041A	ITPR1	NM_001378452.1(ITPR1):c.7868-41G>A	noncoding	Benign
3	4836482	A	G	A4836482G	ITPR1	NM_001378452.1(ITPR1):c.8029-292A>G	noncoding	Benign
3	4836532	T	C	T4836532C	ITPR1	NM_001378452.1(ITPR1):c.8029-242T>C	noncoding	Benign
3	4836651	T	C	T4836651C	ITPR1	NM_001378452.1(ITPR1):c.8029-123T>C	noncoding	Benign
3	4837059	C	T	C4837059T	ITPR1	NM_001378452.1(ITPR1):c.8190+124C>T	noncoding	Benign
3	4837155	T	C	T4837155C	ITPR1	NM_001378452.1(ITPR1):c.8190+220T>C	noncoding	Benign
3	6861455	G	A	G6861455A	GRM7	NM_000844.4(GRM7):c.67G>A:p.Val23Met	coding	Benign
3	6861610	C	T	C6861610T	GRM7	NM_000844.4(GRM7):c.222C>T:p.Asn74=	coding	Benign
3	6861914	A	G	A6861914G	GRM7	NM_000844.4(GRM7):c.519+7A>G	noncoding	Benign
3	7452730	A	T	A7452730T	GRM7	NM_000844.4(GRM7):c.1298A>T:p.Tyr433Phe	coding	Benign
3	7452788	A	C	A7452788C	GRM7	NM_000844.4(GRM7):c.1356A>C:p.Ile452=	coding	Benign
3	7578481	A	G	A7578481G	GRM7	NM_000844.4(GRM7):c.1575A>G:p.Leu525=	coding	Benign
3	7578695	C	T	C7578695T	GRM7	NM_000844.4(GRM7):c.1789C>T:p.Leu597=	coding	Benign
3	7578760	G	A	G7578760A	GRM7	NM_000844.4(GRM7):c.1854G>A:p.Thr618=	coding	Benign/Likely_benign
3	7579102	T	C	T7579102C	GRM7	NM_000844.4(GRM7):c.2196T>C:p.Tyr732=	coding	Benign
3	7579141	G	A	G7579141A	GRM7	NM_000844.4(GRM7):c.2235G>A:p.Gly745=	coding	Benign
3	7680252	C	T	C7680252T	GRM7	NM_000844.4(GRM7):c.2655C>T:p.Asn885=	coding	Benign
3	7680310	G	A	G7680310A	GRM7	NM_000844.4(GRM7):c.2698+15G>A	noncoding	Benign
3	8733739	G	A	G8733739A	CAV3	Single_allele	noncoding	Benign
3	8733755	C	T	C8733755T	CAV3	NM_033337.2(CAV3):c.-122C>T	noncoding	Benign
3	8733771	G	A	G8733771A	CAV3	NM_033337.2(CAV3):c.-106G>A	noncoding	Benign
3	8733831	G	A	G8733831A	CAV3	NM_033337.3(CAV3):c.-46G>A	noncoding	Benign
3	8733846	A	G	A8733846G	CAV3	NM_033337.3(CAV3):c.-31A>G	noncoding	Benign
3	8733915	C	T	C8733915T	CAV3	NM_033337.3(CAV3):c.39C>T:p.Ile13=	coding	Benign/Likely_benign
3	8734016	G	A	G8734016A	CAV3	NM_033337.3(CAV3):c.114+26G>A	noncoding	Benign
3	8734038	G	A	G8734038A	CAV3	NM_033337.3(CAV3):c.114+48G>A	noncoding	Benign
3	8734145	C	A	C8734145A	CAV3	NM_033337.3(CAV3):c.114+155C>A	noncoding	Benign
3	8745481	C	T	C8745481T	CAV3	NM_033337.3(CAV3):c.115-45C>T	noncoding	Benign/Likely_benign
3	8745717	G	A	G8745717A	CAV3	NM_033337.3(CAV3):c.306G>A:p.Ala102=	coding	Benign/Likely_benign
3	8745747	C	T	C8745747T	CAV3	NM_033337.3(CAV3):c.336C>T:p.Ile112=	coding	Benign/Likely_benign
3	8745855	G	A	G8745855A	CAV3	NM_033337.3(CAV3):c.444G>A:p.Arg148=	coding	Benign/Likely_benign
3	8745903	G	A	G8745903A	CAV3	NM_033337.3(CAV3):c.*36G>A	noncoding	Benign
3	8745947	G	A	G8745947A	CAV3	NM_033337.3(CAV3):c.*80G>A	noncoding	Benign
3	8745983	C	G	C8745983G	CAV3	NM_033337.3(CAV3):c.*116C>G	noncoding	Benign
3	8746075	C	T	C8746075T	CAV3	NM_033337.3(CAV3):c.*208C>T	noncoding	Benign
3	8746158	T	C	T8746158C	CAV3	NM_033337.3(CAV3):c.*291T>C	noncoding	Benign
3	8746208	C	T	C8746208T	CAV3	NM_033337.3(CAV3):c.*341C>T	noncoding	Benign
3	8746799	T	A	T8746799A	CAV3	NM_033337.2(CAV3):c.*932T>A	noncoding	Benign
3	8767536	C	T	C8767536T	OXTR	NM_000916.4(OXTR):c.652G>A:p.Ala218Thr	coding	Benign
3	9433896	C	A	C9433896A	SETD5	NM_001080517.3(SETD5):c.123C>A:p.Ser41=	coding	Benign/Likely_benign
3	9433947	T	A	T9433947A	SETD5	NM_001080517.3(SETD5):c.174T>A:p.Tyr58Ter	coding	Pathogenic
3	9434369	G	A	G9434369A	SETD5	NM_001080517.3(SETD5):c.213G>A:p.Pro71=	coding	Benign
3	9435940	G	A	G9435940A	SETD5	NM_001080517.3(SETD5):c.567+34G>A	noncoding	Benign
3	9436837	C	T	C9436837T	SETD5	NM_001080517.3(SETD5):c.567+931C>T	noncoding	Benign
3	9436898	A	G	A9436898G	SETD5	NM_001080517.3(SETD5):c.567+992A>G	noncoding	Benign
3	9441631	G	A	G9441631A	SETD5	NM_001080517.3(SETD5):c.849G>A:p.Arg283=	coding	Benign
3	9442081	C	T	C9442081T	SETD5	NM_001080517.3(SETD5):c.960-47C>T	noncoding	Benign
3	9442091	G	A	G9442091A	SETD5	NM_001080517.3(SETD5):c.960-37G>A	noncoding	Benign
3	9442998	C	G	C9442998G	SETD5	NM_001080517.3(SETD5):c.1078-310C>G	noncoding	Benign
3	9443235	G	C	G9443235C	SETD5	NM_001080517.3(SETD5):c.1078-73G>C	noncoding	Benign
3	9443311	C	T	C9443311T	SETD5	NM_001080517.3(SETD5):c.1081C>T:p.Arg361Ter	coding	Pathogenic
3	9443312	G	C	G9443312C	SETD5	NM_001080517.3(SETD5):c.1082G>C:p.Arg361Pro	coding	Pathogenic
3	9443452	C	T	C9443452T	SETD5	NM_001080517.3(SETD5):c.1187+35C>T	noncoding	Benign
3	9445009	G	T	G9445009T	SETD5	NM_001080517.3(SETD5):c.1188-39G>T	noncoding	Benign
3	9445250	C	T	C9445250T	SETD5	NM_001080517.3(SETD5):c.1390C>T:p.Gln464Ter	coding	Pathogenic
3	9445362	G	A	G9445362A	SETD5	NM_001080517.3(SETD5):c.1440+62G>A	noncoding	Benign
3	9445464	T	C	T9445464C	SETD5	NM_001080517.3(SETD5):c.1440+164T>C	noncoding	Benign
3	9445644	C	T	C9445644T	SETD5	NM_001080517.3(SETD5):c.1441-13C>T	noncoding	Benign
3	9445675	G	T	G9445675T	SETD5	NM_001080517.3(SETD5):c.1459G>T:p.Glu487Ter	coding	Pathogenic
3	9445966	T	G	T9445966G	SETD5	NM_001080517.3(SETD5):c.1524+226T>G	noncoding	Benign
3	9447031	C	A	C9447031A	SETD5	NM_001080517.3(SETD5):c.1525-19C>A	noncoding	Benign
3	9447049	G	A	G9447049A	SETD5	NM_001080517.3(SETD5):c.1525-1G>A	noncoding	Pathogenic
3	9447049	G	C	G9447049C	SETD5	NM_001080517.3(SETD5):c.1525-1G>C	noncoding	Pathogenic
3	9447137	C	T	C9447137T	SETD5	NM_001080517.3(SETD5):c.1612C>T:p.Gln538Ter	coding	Pathogenic
3	9447656	G	A	G9447656A	SETD5	NM_001080517.3(SETD5):c.1783-30G>A	noncoding	Benign
3	9447813	A	C	A9447813C	SETD5	NM_001080517.3(SETD5):c.1910A>C:p.Asn637Thr	coding	Benign/Likely_benign
3	9448083	T	C	T9448083C	SETD5	NM_001080517.3(SETD5):c.2103+77T>C	noncoding	Benign
3	9448432	G	A	G9448432A	SETD5	NM_001080517.3(SETD5):c.2148G>A:p.Glu716=	coding	Benign
3	9453435	C	A	C9453435A	SETD5	NM_001080517.3(SETD5):c.2347-304C>A	noncoding	Benign
3	9453701	A	G	A9453701G	SETD5	NM_001080517.3(SETD5):c.2347-38A>G	noncoding	Benign
3	9453725	C	T	C9453725T	SETD5	NM_001080517.3(SETD5):c.2347-14C>T	noncoding	Benign
3	9453738	G	A	G9453738A	SETD5	NM_001080517.3(SETD5):c.2347-1G>A	noncoding	Pathogenic
3	9453740	G	A	G9453740A	SETD5	NM_001080517.3(SETD5):c.2348G>A:p.Arg783His	coding	Benign
3	9453872	C	T	C9453872T	SETD5	NM_001080517.3(SETD5):c.2476+4C>T	noncoding	Benign/Likely_benign
3	9464469	G	T	G9464469T	SETD5	NM_001080517.3(SETD5):c.2521G>T:p.Glu841Ter	coding	Pathogenic
3	9464592	C	T	C9464592T	SETD5	NM_001080517.3(SETD5):c.2644C>T:p.Arg882Ter	coding	Pathogenic/Likely_pathogenic
3	9470291	G	A	G9470291A	SETD5	NM_001080517.3(SETD5):c.2725-168G>A	noncoding	Benign
3	9470615	A	T	A9470615T	SETD5	NM_001080517.3(SETD5):c.2881A>T:p.Arg961Ter	coding	Pathogenic
3	9470661	C	G	C9470661G	SETD5	NM_001080517.3(SETD5):c.2927C>G:p.Ala976Gly	coding	Benign/Likely_benign
3	9470717	C	T	C9470717T	SETD5	NM_001080517.3(SETD5):c.2983C>T:p.Arg995Ter	coding	Pathogenic
3	9470978	G	A	G9470978A	SETD5	NM_001080517.3(SETD5):c.3195+49G>A	noncoding	Benign
3	9473172	G	A	G9473172A	SETD5	NM_001080517.3(SETD5):c.3196-64G>A	noncoding	Benign
3	9473212	G	T	G9473212T	SETD5	NM_001080517.3(SETD5):c.3196-24G>T	noncoding	Benign
3	9473220	G	T	G9473220T	SETD5	NM_001080517.3(SETD5):c.3196-16G>T	noncoding	Benign
3	9473341	C	T	C9473341T	SETD5	NM_001080517.3(SETD5):c.3301C>T:p.Gln1101Ter	coding	Pathogenic
3	9473365	G	A	G9473365A	SETD5	NM_001080517.3(SETD5):c.3325G>A:p.Asp1109Asn	coding	Benign
3	9473370	T	C	T9473370C	SETD5	NM_001080517.3(SETD5):c.3330T>C:p.Thr1110=	coding	Benign
3	9473378	A	G	A9473378G	SETD5	NM_001080517.3(SETD5):c.3338A>G:p.His1113Arg	coding	Benign/Likely_benign
3	9473381	G	A	G9473381A	SETD5	NM_001080517.3(SETD5):c.3341G>A:p.Gly1114Asp	coding	Benign/Likely_benign
3	9474583	G	A	G9474583A	SETD5	NM_001080517.3(SETD5):c.3631+1G>A	coding	Pathogenic
3	9474656	G	A	G9474656A	SETD5	NM_001080517.3(SETD5):c.3631+74G>A	noncoding	Benign
3	9474902	T	C	T9474902C	SETD5	NM_001080517.3(SETD5):c.3632-166T>C	noncoding	Benign
3	9475591	A	G	A9475591G	SETD5	NM_001080517.3(SETD5):c.3829A>G:p.Thr1277Ala	coding	Benign
3	9475656	C	A	C9475656A	SETD5	NM_001080517.3(SETD5):c.3894C>A:p.Ser1298=	coding	Benign/Likely_benign
3	9475685	C	T	C9475685T	SETD5	NM_001080517.3(SETD5):c.3923C>T:p.Thr1308Ile	coding	Benign
3	9475691	C	T	C9475691T	SETD5	NM_001080517.3(SETD5):c.3929C>T:p.Ser1310Leu	coding	Benign/Likely_benign
3	9475827	G	A	G9475827A	SETD5	NM_001080517.3(SETD5):c.4065G>A:p.Ser1355=	coding	Benign
3	9475893	C	T	C9475893T	SETD5	NM_001080517.3(SETD5):c.4131C>T:p.Asn1377=	coding	Benign
3	9475977	A	G	A9475977G	SETD5	NM_001080517.3(SETD5):c.4215A>G:p.Val1405=	coding	Benign
3	9684571	C	T	C9684571T	MTMR14	NM_001077525.3(MTMR14):c.965-14C>T	noncoding	Benign
3	9684904	C	T	C9684904T	MTMR14	NM_001077525.3(MTMR14):c.1067C>T:p.Thr356Met	coding	Benign/Likely_benign
3	9687803	C	T	C9687803T	MTMR14	NM_001077525.3(MTMR14):c.1165-18C>T	noncoding	Benign
3	9688681	G	A	G9688681A	MTMR14	NM_001077525.3(MTMR14):c.1236-15G>A	noncoding	Benign
3	9689026	C	T	C9689026T	MTMR14	NM_001077525.3(MTMR14):c.1377C>T:p.Ser459=	coding	Benign
3	9701948	G	A	G9701948A	MTMR14	NM_001077525.3(MTMR14):c.1928G>A:p.Arg643Gln	coding	Benign
3	9734696	C	T	C9734696T	BRPF1	NM_001003694.2(BRPF1):c.556C>T:p.Gln186Ter	coding	Pathogenic
3	9739150	C	T	C9739150T	BRPF1	NM_001003694.2(BRPF1):c.751C>T:p.Arg251Ter	coding	Pathogenic
3	9739363	C	T	C9739363T	BRPF1	NM_001003694.2(BRPF1):c.964C>T:p.Gln322Ter	coding	Pathogenic
3	9741463	A	G	A9741463G	BRPF1	NM_001003694.2(BRPF1):c.1854+24A>G	noncoding	Benign
3	9742969	A	G	A9742969G	BRPF1	NM_001003694.2(BRPF1):c.2027A>G:p.Lys676Arg	coding	Pathogenic
3	9743606	G	A	G9743606A	BRPF1	NM_001003694.2(BRPF1):c.2340G>A:p.Leu780_Glu781=	coding	Benign
3	9745040	C	T	C9745040T	BRPF1	NM_001003694.2(BRPF1):c.2953C>T:p.Gln985Ter	coding	Pathogenic
3	9745656	G	A	G9745656A	BRPF1	NM_001003694.2(BRPF1):c.3152G>A:p.Gly1051Asp	coding	Pathogenic
3	9866841	A	G	A9866841G	CIDEC	NM_001321142.2(CIDEC):c.*293T>C	noncoding	Benign
3	9866972	C	T	C9866972T	CIDEC	NM_001321142.2(CIDEC):c.*162G>A	noncoding	Benign
3	9867065	G	C	G9867065C	CIDEC	NM_001321142.2(CIDEC):c.*69C>G	noncoding	Benign
3	9867251	G	A	G9867251A	CIDEC	NM_001321142.2(CIDEC):c.600C>T:p.His200=	coding	Benign
3	9870413	G	A	G9870413A	CIDEC	NM_001321142.2(CIDEC):c.208-91C>T	noncoding	Benign
3	9876886	C	T	C9876886T	CIDEC	NM_001321142.2(CIDEC):c.207+180G>A	noncoding	Benign
3	9877177	C	A	C9877177A	CIDEC	NM_001321142.2(CIDEC):c.96G>T:p.Leu32=	coding	Benign
3	9878357	A	T	A9878357T	CIDEC	NM_001321142.2(CIDEC):c.53+77T>A	noncoding	Benign
3	9878454	G	C	G9878454C	CIDEC	NM_001321142.2(CIDEC):c.33C>G:p.Leu11=	coding	Benign
3	9878563	C	A	C9878563A	CIDEC	NM_001321142.2(CIDEC):c.-25-52G>T	noncoding	Benign
3	9890289	C	T	C9890289T	JAGN1	Single_allele	noncoding	Benign
3	9890428	C	T	C9890428T	JAGN1	Single_allele	noncoding	Benign
3	9890463	C	T	C9890463T	JAGN1	Single_allele	noncoding	Benign
3	9890653	G	C	G9890653C	JAGN1	NM_032492.4(JAGN1):c.-70G>C	noncoding	Benign
3	9892744	T	C	T9892744C	JAGN1	NM_032492.4(JAGN1):c.90-171T>C	noncoding	Benign
3	9892895	C	T	C9892895T	JAGN1	NM_032492.4(JAGN1):c.90-20C>T	noncoding	Benign
3	9892896	C	T	C9892896T	JAGN1	NM_032492.4(JAGN1):c.90-19C>T	noncoding	Benign
3	9892921	T	C	T9892921C	JAGN1	NM_032492.4(JAGN1):c.96T>C:p.Thr32=	coding	Benign
3	9893161	C	T	C9893161T	JAGN1	NM_032492.4(JAGN1):c.336C>T:p.Ile112=	coding	Benign
3	9893386	T	C	T9893386C	JAGN1	NM_032492.4(JAGN1):c.*9T>C	noncoding	Benign
3	9893579	A	G	A9893579G	JAGN1	NM_032492.4(JAGN1):c.*202A>G	noncoding	Benign
3	9918029	C	T	C9918029T	IL17RC	NM_153460.4(IL17RC):c.234C>T:p.Thr78=	coding	Benign
3	9918386	C	T	C9918386T	IL17RC	NM_153460.4(IL17RC):c.332C>T:p.Ser111Leu	coding	Benign
3	9920473	T	C	T9920473C	IL17RC	NM_153460.4(IL17RC):c.466-18T>C	noncoding	Benign
3	9924216	T	G	T9924216G	IL17RC	NM_153460.4(IL17RC):c.763-16T>G	coding	Benign
3	9928227	C	T	C9928227T	IL17RC	NM_153460.4(IL17RC):c.877+7C>T	noncoding	Benign
3	9928231	C	T	C9928231T	IL17RC	NM_153460.4(IL17RC):c.877+11C>T	noncoding	Benign
3	9928289	T	C	T9928289C	IL17RC	NM_153460.4(IL17RC):c.878-16T>C	noncoding	Benign
3	9928347	A	G	A9928347G	IL17RC	NM_153460.4(IL17RC):c.920A>G:p.Gln307Arg	coding	Benign
3	9928384	G	A	G9928384A	IL17RC	NM_153460.4(IL17RC):c.957G>A:p.Pro319=	coding	Benign
3	9928474	C	T	C9928474T	IL17RC	NM_153460.4(IL17RC):c.1047C>T:p.Asn349=	coding	Benign
3	9930038	G	T	G9930038T	IL17RC	NM_153460.4(IL17RC):c.1167G>T:p.Gly389=	coding	Benign
3	9930382	C	T	C9930382T	IL17RC	NM_153460.4(IL17RC):c.1279-18C>T	noncoding	Benign
3	9933125	G	A	G9933125A	IL17RC	NM_153460.4(IL17RC):c.1695G>A:p.Ala565=	coding	Benign
3	9933563	C	G	C9933563G	CRELD1;IL17RC	NM_153460.4(IL17RC):c.2133C>G:p.Gly711=	coding	Benign
3	9933669	A	G	A9933669G	CRELD1	Single_allele	noncoding	Benign
3	9933702	C	G	C9933702G	CRELD1	Single_allele	noncoding	Benign
3	9933888	C	T	C9933888T	CRELD1	NM_001077415.3(CRELD1):c.-52C>T	noncoding	Benign
3	9934176	T	C	T9934176C	CRELD1	NM_001077415.3(CRELD1):c.-19-244T>C	noncoding	Benign
3	9934334	G	T	G9934334T	CRELD1	NM_001077415.3(CRELD1):c.-19-86G>T	noncoding	Benign
3	9934475	A	G	A9934475G	CRELD1	NM_001077415.3(CRELD1):c.37A>G:p.Met13Val	coding	Benign
3	9934531	C	T	C9934531T	CRELD1	NM_001077415.3(CRELD1):c.93C>T:p.Pro31=	coding	Benign
3	9935180	C	T	C9935180T	CRELD1	NM_001077415.3(CRELD1):c.257+263C>T	noncoding	Benign
3	9937549	C	A	C9937549A	CRELD1	NM_001077415.3(CRELD1):c.258-13C>A	noncoding	Benign
3	9937976	A	G	A9937976G	CRELD1	NM_001077415.3(CRELD1):c.369-39A>G	noncoding	Benign
3	9941046	G	A	G9941046A	CRELD1	NM_001077415.3(CRELD1):c.637+20G>A	noncoding	Benign
3	9943529	C	T	C9943529T	CRELD1	NM_001077415.3(CRELD1):c.1048+14C>T	noncoding	Benign
3	9943773	T	C	T9943773C	CRELD1	NM_001077415.3(CRELD1):c.1048+258T>C	noncoding	Benign
3	9944510	G	A	G9944510A	CRELD1	NM_001077415.3(CRELD1):c.1194G>A:p.Ala398=	coding	Benign/Likely_benign
3	9944565	A	G	A9944565G	CRELD1	NM_001077415.3(CRELD1):c.1249A>G:p.Ile417Val	coding	Benign
3	10032569	T	A	T10032569A	FANCD2	NM_001018115.3(FANCD2):c.65-263T>A	noncoding	Benign
3	10034299	T	C	T10034299C	FANCD2	NM_001018115.3(FANCD2):c.206-170T>C	noncoding	Benign
3	10034307	A	G	A10034307G	FANCD2	NM_001018115.3(FANCD2):c.206-162A>G	noncoding	Benign
3	10034962	G	A	G10034962A	FANCD2	NM_001018115.3(FANCD2):c.377+164G>A	noncoding	Benign
3	10035291	A	C	A10035291C	FANCD2	NM_001018115.3(FANCD2):c.438+58A>C	noncoding	Benign
3	10035339	T	C	T10035339C	FANCD2	NM_001018115.3(FANCD2):c.438+106T>C	noncoding	Benign
3	10036107	A	G	A10036107G	FANCD2	NM_001018115.3(FANCD2):c.439-180A>G	noncoding	Benign
3	10039038	T	C	T10039038C	FANCD2	NM_001018115.3(FANCD2):c.492-241T>C	noncoding	Benign
3	10041281	G	A	G10041281A	FANCD2	NM_001018115.3(FANCD2):c.696-342G>A	noncoding	Benign
3	10041622	G	A	G10041622A	FANCD2	NM_001018115.3(FANCD2):c.696-1G>A	noncoding	Pathogenic
3	10042251	G	A	G10042251A	FANCD2	NM_001018115.3(FANCD2):c.784-308G>A	noncoding	Benign
3	10043143	C	T	C10043143T	FANCD2	NM_001018115.3(FANCD2):c.982C>T:p.Arg328Ter	coding	Pathogenic/Likely_pathogenic
3	10043351	G	T	G10043351T	FANCD2	NM_001018115.3(FANCD2):c.990-133G>T	noncoding	Benign
3	10043667	C	T	C10043667T	FANCD2	NM_001018115.3(FANCD2):c.1098+75C>T	noncoding	Benign
3	10043903	T	G	T10043903G	FANCD2	NM_001018115.3(FANCD2):c.1134+39T>G	noncoding	Benign
3	10043940	G	T	G10043940T	FANCD2	NM_001018115.3(FANCD2):c.1134+76G>T	noncoding	Benign
3	10044132	G	T	G10044132T	FANCD2	NM_001018115.3(FANCD2):c.1134+268G>T	noncoding	Benign
3	10046275	G	C	G10046275C	FANCD2	NM_001018115.3(FANCD2):c.1135-305G>C	noncoding	Benign
3	10046327	A	G	A10046327G	FANCD2	NM_001018115.3(FANCD2):c.1135-253A>G	noncoding	Benign
3	10046332	T	C	T10046332C	FANCD2	NM_001018115.3(FANCD2):c.1135-248T>C	noncoding	Benign
3	10046516	T	G	T10046516G	FANCD2	NM_001018115.3(FANCD2):c.1135-64T>G	noncoding	Benign
3	10046838	G	A	G10046838A	FANCD2	NM_001018115.3(FANCD2):c.1278+115G>A	noncoding	Benign
3	10047786	T	A	T10047786A	FANCD2	NM_001018115.3(FANCD2):c.1279-131T>A	noncoding	Benign
3	10047916	G	A	G10047916A	FANCD2	NM_001018115.3(FANCD2):c.1279-1G>A	noncoding	Pathogenic
3	10049174	A	G	A10049174G	FANCD2	NM_001018115.3(FANCD2):c.1414-200A>G	noncoding	Benign
3	10049715	C	G	C10049715G	FANCD2	NM_001018115.3(FANCD2):c.1545+210C>G	noncoding	Benign
3	10052140	G	A	G10052140A	FANCD2	NM_001018115.3(FANCD2):c.1546-247G>A	noncoding	Benign
3	10052329	A	T	A10052329T	FANCD2	NM_001018115.3(FANCD2):c.1546-58A>T	noncoding	Benign/Likely_benign
3	10060326	C	T	C10060326T	FANCD2	NM_001018115.3(FANCD2):c.1689C>T:p.Leu563=	coding	Benign
3	10060693	T	A	T10060693A	FANCD2	NM_001018115.3(FANCD2):c.1766+290T>A	noncoding	Benign
3	10062209	C	T	C10062209T	FANCD2	NM_001018115.3(FANCD2):c.1825C>T:p.Gln609Ter	coding	Pathogenic
3	10062350	C	T	C10062350T	FANCD2	NM_001018115.3(FANCD2):c.1827+139C>T	noncoding	Benign
3	10062502	A	T	A10062502T	FANCD2	NM_001018115.3(FANCD2):c.1827+291A>T	noncoding	Benign
3	10063466	G	A	G10063466A	FANCD2	NM_001018115.3(FANCD2):c.1828-326G>A	noncoding	Benign
3	10063715	C	T	C10063715T	FANCD2	NM_001018115.3(FANCD2):c.1828-77C>T	noncoding	Benign
3	10063797	C	T	C10063797T	FANCD2	NM_001018115.3(FANCD2):c.1833C>T:p.Thr611=	coding	Benign/Likely_benign
3	10064163	A	G	A10064163G	FANCD2	NM_001018115.3(FANCD2):c.1948-193A>G	noncoding	Benign
3	10064460	C	T	C10064460T	FANCD2	NM_001018115.3(FANCD2):c.2021+31C>T	noncoding	Benign/Likely_benign
3	10064702	A	G	A10064702G	FANCD2	NM_001018115.3(FANCD2):c.2022-27A>G	noncoding	Benign
3	10064810	G	A	G10064810A	FANCD2	NM_001018115.3(FANCD2):c.2103G>A:p.Pro701=	coding	Benign
3	10065506	A	G	A10065506G	FANCD2	NM_001018115.3(FANCD2):c.2269+12A>G	noncoding	Benign
3	10065974	C	T	C10065974T	FANCD2	NM_001018115.3(FANCD2):c.2380C>T:p.Arg794Ter	coding	Pathogenic
3	10066087	C	T	C10066087T	FANCD2	NM_001018115.3(FANCD2):c.2385+108C>T	noncoding	Benign
3	10067034	A	G	A10067034G	FANCD2	NM_001018115.3(FANCD2):c.2386-175A>G	noncoding	Benign
3	10067061	G	C	G10067061C	FANCD2	NM_001018115.3(FANCD2):c.2386-148G>C	noncoding	Benign
3	10067292	A	G	A10067292G	FANCD2	NM_001018115.3(FANCD2):c.2469A>G:p.Gln823=	coding	Benign/Likely_benign
3	10073475	C	G	C10073475G	FANCD2	NM_001018115.3(FANCD2):c.2715+113C>G	noncoding	Benign/Likely_benign
3	10074462	G	A	G10074462A	FANCD2	NM_001018115.3(FANCD2):c.2716-68G>A	noncoding	Benign
3	10074568	A	G	A10074568G	FANCD2	NM_001018115.3(FANCD2):c.2754A>G:p.Leu918=	coding	Benign/Likely_benign
3	10074593	G	T	G10074593T	FANCD2	NM_001018115.3(FANCD2):c.2779G>T:p.Glu927Ter	coding	Pathogenic
3	10074659	G	T	G10074659T	FANCD2	NM_001018115.3(FANCD2):c.2845G>T:p.Glu949Ter	coding	Pathogenic
3	10074857	G	T	G10074857T	FANCD2	NM_001018115.3(FANCD2):c.2859+184G>T	noncoding	Benign
3	10078244	A	G	A10078244G	FANCD2	NM_001018115.3(FANCD2):c.2976+47A>G	noncoding	Benign/Likely_benign
3	10080891	T	C	T10080891C	FANCD2	NM_001018115.3(FANCD2):c.2977-209T>C	noncoding	Benign
3	10081098	A	G	A10081098G	FANCD2	NM_001018115.3(FANCD2):c.2977-2A>G	noncoding	Pathogenic
3	10081243	C	T	C10081243T	FANCD2	NM_001018115.3(FANCD2):c.3105+15C>T	noncoding	Benign/Likely_benign
3	10086951	A	G	A10086951G	FANCD2	NM_001018115.3(FANCD2):c.3336-183A>G	noncoding	Benign
3	10087183	C	T	C10087183T	FANCD2	NM_001018115.3(FANCD2):c.3385C>T:p.Gln1129Ter	coding	Pathogenic
3	10087255	G	T	G10087255T	FANCD2	NM_001018115.3(FANCD2):c.3457G>T:p.Glu1153Ter	coding	Pathogenic
3	10088151	C	G	C10088151G	FANCD2	NM_001018115.3(FANCD2):c.3467-298C>G	noncoding	Benign
3	10088294	G	A	G10088294A	FANCD2	NM_001018115.3(FANCD2):c.3467-155G>A	noncoding	Benign
3	10088463	C	T	C10088463T	FANCD2	NM_001018115.3(FANCD2):c.3481C>T:p.Gln1161Ter	coding	Pathogenic/Likely_pathogenic
3	10088482	G	A	G10088482A	FANCD2	NM_001018115.3(FANCD2):c.3500G>A:p.Trp1167Ter	coding	Pathogenic
3	10088562	C	T	C10088562T	FANCD2	NM_001018115.3(FANCD2):c.3560+20C>T	noncoding	Benign
3	10090386	G	T	G10090386T	FANCD2	NM_001018115.3(FANCD2):c.3777+1G>T	coding	Pathogenic
3	10092026	G	A	G10092026A	FANCD2	NM_001018115.3(FANCD2):c.3778-155G>A	noncoding	Benign
3	10092220	C	T	C10092220T	FANCD2	NM_001018115.3(FANCD2):c.3817C>T:p.Arg1273Ter	coding	Pathogenic
3	10093082	C	T	C10093082T	FANCD2	NM_001018115.3(FANCD2):c.3850-203C>T	noncoding	Benign
3	10093325	T	G	T10093325G	FANCD2	NM_001018115.3(FANCD2):c.3888+2T>G	noncoding	Pathogenic
3	10094322	C	T	C10094322T	FANCD2	NM_001018115.3(FANCD2):c.3922C>T:p.Gln1308Ter	coding	Pathogenic
3	10094466	C	T	C10094466T	FANCD2	NM_001018115.3(FANCD2):c.3963+103C>T	noncoding	Benign
3	10094472	G	A	G10094472A	FANCD2	NM_001018115.3(FANCD2):c.3963+109G>A	noncoding	Benign
3	10096427	T	A	T10096427A	FANCD2	NM_001018115.3(FANCD2):c.4140T>A:p.Cys1380Ter	coding	Pathogenic
3	10096709	C	T	C10096709T	FANCD2	NM_001018115.3(FANCD2):c.4185+237C>T	noncoding	Benign
3	10098431	G	A	G10098431A	FANCD2	NM_001018115.3(FANCD2):c.4186-289G>A	noncoding	Benign
3	10098573	G	C	G10098573C	FANCD2	NM_001018115.3(FANCD2):c.4186-147G>C	noncoding	Benign
3	10098740	A	G	A10098740G	FANCD2	NM_001018115.3(FANCD2):c.4206A>G:p.Gln1402_Asn1403=	coding	Benign
3	10098930	C	A	C10098930A	FANCD2	NM_001018115.3(FANCD2):c.4281+115C>A	coding	Benign/Likely_benign
3	10099085	A	G	A10099085G	FANCD2	NM_001018115.3(FANCD2):c.4281+270A>G	coding	Benign/Likely_benign
3	10115099	G	C	G10115099C	BRK1	Single_allele	noncoding	Benign
3	10115521	G	C	G10115521C	BRK1	Single_allele	noncoding	Benign
3	10115653	C	A	C10115653A	BRK1	Single_allele	noncoding	Benign
3	10115684	C	T	C10115684T	BRK1	NM_018462.5(BRK1):c.-18C>T	noncoding	Benign
3	10115914	C	A	C10115914A	BRK1	NM_018462.5(BRK1):c.118+95C>A	noncoding	Benign
3	10116618	C	G	C10116618G	BRK1	NM_018462.5(BRK1):c.118+799C>G	noncoding	Benign
3	10116709	A	G	A10116709G	BRK1	NM_018462.5(BRK1):c.118+890A>G	noncoding	Benign
3	10119721	G	T	G10119721T	BRK1	NM_018462.5(BRK1):c.118+3902G>T	noncoding	Benign
3	10119834	C	A	C10119834A	BRK1	NM_018462.5(BRK1):c.118+4015C>A	noncoding	Benign
3	10121189	G	T	G10121189T	BRK1	NM_018462.5(BRK1):c.119-4437G>T	noncoding	Benign
3	10123038	T	G	T10123038G	BRK1	NM_018462.5(BRK1):c.119-2588T>G	noncoding	Benign
3	10123099	A	G	A10123099G	BRK1	NM_018462.5(BRK1):c.119-2527A>G	noncoding	Benign
3	10124161	T	A	T10124161A	BRK1	NM_018462.5(BRK1):c.119-1465T>A	noncoding	Benign
3	10124722	G	A	G10124722A	BRK1	NM_018462.5(BRK1):c.119-904G>A	noncoding	Benign
3	10124735	T	C	T10124735C	BRK1	NM_018462.5(BRK1):c.119-891T>C	noncoding	Benign
3	10124948	A	C	A10124948C	BRK1	NM_018462.5(BRK1):c.119-678A>C	noncoding	Benign
3	10125385	A	G	A10125385G	BRK1	NM_018462.5(BRK1):c.119-241A>G	noncoding	Benign
3	10125428	G	A	G10125428A	BRK1	NM_018462.5(BRK1):c.119-198G>A	noncoding	Benign
3	10125580	G	C	G10125580C	BRK1	NM_018462.5(BRK1):c.119-46G>C	noncoding	Benign
3	10126106	G	A	G10126106A	BRK1	NM_018462.5(BRK1):c.202-163G>A	noncoding	Benign
3	10126963	T	C	T10126963C	BRK1	NM_018462.5(BRK1):c.*668T>C	noncoding	Benign
3	10127101	T	C	T10127101C	BRK1	NM_018462.5(BRK1):c.*806T>C	noncoding	Benign
3	10127118	A	G	A10127118G	BRK1	NM_018462.5(BRK1):c.*823A>G	noncoding	Benign
3	10127180	A	C	A10127180C	BRK1	NM_018462.5(BRK1):c.*885A>C	noncoding	Benign
3	10127208	T	G	T10127208G	BRK1	Single_allele	noncoding	Benign
3	10127221	C	T	C10127221T	BRK1	Single_allele	noncoding	Benign
3	10127281	G	A	G10127281A	BRK1	Single_allele	noncoding	Benign
3	10127283	G	A	G10127283A	BRK1	Single_allele	noncoding	Benign
3	10128062	G	C	G10128062C	BRK1	Single_allele	noncoding	Benign
3	10128135	G	T	G10128135T	BRK1	Single_allele	noncoding	Benign
3	10141318	G	C	G10141318C	VHL	Single_allele	noncoding	Benign
3	10141590	C	T	C10141590T	VHL	Single_allele	noncoding	Benign
3	10141803	C	A	C10141803A	VHL	NM_000551.4(VHL):c.-45C>A	noncoding	Benign
3	10141943	G	A	G10141943A	VHL	NM_000551.4(VHL):c.96G>A:p.Glu32_Ser33=	coding	Benign
3	10141961	C	T	C10141961T	VHL	NM_000551.4(VHL):c.114C>T:p.Ser38=	coding	Benign/Likely_benign
3	10141982	G	A	G10141982A	VHL	NM_000551.4(VHL):c.135G>A:p.Pro45=	coding	Benign/Likely_benign
3	10142061	T	C	T10142061C	VHL	NM_000551.4(VHL):c.214T>C:p.Ser72Pro	coding	Pathogenic/Likely_pathogenic
3	10142084	C	T	C10142084T	VHL	NM_000551.4(VHL):c.237C>T:p.Arg79=	coding	Benign/Likely_benign
3	10142089	C	T	C10142089T	VHL	NM_000551.4(VHL):c.242C>T:p.Pro81Leu	coding	Pathogenic/Likely_pathogenic
3	10142362	C	T	C10142362T	VHL	NM_000551.4(VHL):c.340+175C>T	noncoding	Benign
3	10142808	T	C	T10142808C	VHL	NM_000551.4(VHL):c.340+621T>C	noncoding	Benign
3	10142835	T	C	T10142835C	VHL	NM_000551.4(VHL):c.340+648T>C	noncoding	Benign/Likely_benign
3	10142866	T	G	T10142866G	VHL	NM_000551.4(VHL):c.340+679T>G	noncoding	Benign
3	10143024	A	G	A10143024G	VHL	NM_000551.4(VHL):c.340+837A>G	noncoding	Benign
3	10146503	T	A	T10146503A	VHL	NM_000551.4(VHL):c.341-11T>A	noncoding	Pathogenic
3	10146508	C	T	C10146508T	VHL	NM_000551.4(VHL):c.341-6C>T	noncoding	Benign/Likely_benign
3	10146556	T	C	T10146556C	VHL	NM_000551.4(VHL):c.383T>C:p.Leu128Pro	coding	Pathogenic/Likely_pathogenic
3	10146573	G	T	G10146573T	VHL	NM_000551.4(VHL):c.400G>T:p.Glu134Ter	coding	Pathogenic
3	10146633	C	T	C10146633T	VHL	NM_000551.4(VHL):c.460C>T:p.Pro154Ser	coding	Pathogenic/Likely_pathogenic
3	10146679	A	G	A10146679G	VHL	NM_000551.4(VHL):c.463+43A>G	noncoding	Benign
3	10146744	T	G	T10146744G	VHL	NM_000551.4(VHL):c.463+108T>G	noncoding	Benign
3	10149535	C	G	C10149535G	VHL	NM_000551.4(VHL):c.464-252C>G	noncoding	Benign
3	10149757	C	T	C10149757T	VHL	NM_000551.4(VHL):c.464-30C>T	noncoding	Benign
3	10149798	A	T	A10149798T	VHL	NM_000551.4(VHL):c.475A>T:p.Lys159Ter	coding	Pathogenic
3	10149811	T	G	T10149811G	VHL	NM_000551.4(VHL):c.488T>G:p.Leu163Arg	coding	Pathogenic
3	10222796	C	G	C10222796G	IRAK2	NM_001570.4(IRAK2):c.1174C>G:p.Leu392Val	coding	Benign
3	10286566	A	C	A10286566C	GHRL	NM_016362.5(GHRL):c.334+138T>G	noncoding	Benign
3	10286769	T	A	T10286769A	GHRL	NM_016362.5(GHRL):c.269A>T:p.Gln90Leu	coding	Benign
3	10287098	G	A	G10287098A	GHRL	NM_016362.5(GHRL):c.226-286C>T	noncoding	Benign
3	10287125	T	C	T10287125C	GHRL	NM_016362.5(GHRL):c.226-313A>G	noncoding	Benign
3	10289773	G	T	G10289773T	GHRL	NM_016362.5(GHRL):c.214C>A:p.Leu72Met	coding	Benign
3	10289914	C	T	C10289914T	GHRL	NM_016362.5(GHRL):c.109-36G>A	noncoding	Benign
3	10328802	G	C	G10328802C	ATP2B2	NM_001001331.4(ATP2B2):c.*12C>G	noncoding	Benign
3	10331823	A	G	A10331823G	ATP2B2	NM_001001331.4(ATP2B2):c.3421-2698T>C	noncoding	Benign
3	10335966	C	T	C10335966T	ATP2B2	NM_001001331.4(ATP2B2):c.3420+2210G>A	noncoding	Benign
3	10337919	T	C	T10337919C	ATP2B2	NM_001001331.4(ATP2B2):c.3420+257A>G	noncoding	Benign
3	10337939	A	G	A10337939G	ATP2B2	NM_001001331.4(ATP2B2):c.3420+237T>C	noncoding	Benign
3	10338239	C	T	C10338239T	ATP2B2	NM_001001331.4(ATP2B2):c.3357G>A:p.Ala1119=	coding	Benign
3	10338260	G	A	G10338260A	ATP2B2	NM_001001331.4(ATP2B2):c.3336C>T:p.Asp1112=	coding	Benign
3	10338525	T	C	T10338525C	ATP2B2	NM_001001331.4(ATP2B2):c.3238-167A>G	noncoding	Benign
3	10340100	A	G	A10340100G	ATP2B2	NM_001001331.4(ATP2B2):c.3237+142T>C	noncoding	Benign
3	10340427	T	C	T10340427C	ATP2B2	NM_001001331.4(ATP2B2):c.3129+66A>G	noncoding	Benign
3	10340464	G	A	G10340464A	ATP2B2	NM_001001331.4(ATP2B2):c.3129+29C>T	noncoding	Benign
3	10340853	T	G	T10340853G	ATP2B2	NM_001001331.4(ATP2B2):c.2918-149A>C	noncoding	Benign
3	10340954	A	G	A10340954G	ATP2B2	NM_001001331.4(ATP2B2):c.2918-250T>C	noncoding	Benign
3	10342741	G	A	G10342741A	ATP2B2	NM_001001331.4(ATP2B2):c.2917+11C>T	noncoding	Benign
3	10342849	G	A	G10342849A	ATP2B2	NM_001001331.4(ATP2B2):c.2820C>T:p.Tyr940=	coding	Benign
3	10345113	C	T	C10345113T	ATP2B2	NM_001001331.4(ATP2B2):c.2703+271G>A	noncoding	Benign
3	10345375	C	A	C10345375A	ATP2B2	NM_001001331.4(ATP2B2):c.2703+9G>T	noncoding	Benign
3	10345376	G	A	G10345376A	ATP2B2	NM_001001331.4(ATP2B2):c.2703+8C>T	noncoding	Benign
3	10345859	T	C	T10345859C	ATP2B2	NM_001001331.4(ATP2B2):c.2511+172A>G	noncoding	Benign
3	10346073	G	A	G10346073A	ATP2B2	NM_001001331.4(ATP2B2):c.2469C>T:p.Asn823=	coding	Benign
3	10346081	C	T	C10346081T	ATP2B2	NM_001001331.4(ATP2B2):c.2461G>A:p.Gly821Arg	coding	Pathogenic
3	10346088	C	T	C10346088T	ATP2B2	NM_001001331.4(ATP2B2):c.2454G>A:p.Thr818=	coding	Benign
3	10350187	G	A	G10350187A	ATP2B2	NM_001001331.4(ATP2B2):c.2329C>T:p.Arg777Ter	coding	Pathogenic
3	10350385	T	C	T10350385C	ATP2B2	NM_001001331.4(ATP2B2):c.2316+13A>G	noncoding	Benign
3	10358461	A	G	A10358461G	ATP2B2	NM_001001331.4(ATP2B2):c.2136+230T>C	noncoding	Benign
3	10358547	T	C	T10358547C	ATP2B2	NM_001001331.4(ATP2B2):c.2136+144A>G	noncoding	Benign
3	10358569	C	T	C10358569T	ATP2B2	NM_001001331.4(ATP2B2):c.2136+122G>A	noncoding	Benign
3	10358580	T	C	T10358580C	ATP2B2	NM_001001331.4(ATP2B2):c.2136+111A>G	noncoding	Benign
3	10358582	A	G	A10358582G	ATP2B2	NM_001001331.4(ATP2B2):c.2136+109T>C	noncoding	Benign
3	10358690	C	T	C10358690T	ATP2B2	NM_001001331.4(ATP2B2):c.2136+1G>A	noncoding	Pathogenic/Likely_pathogenic
3	10358817	G	A	G10358817A	ATP2B2	NM_001001331.4(ATP2B2):c.2010C>T:p.Arg670=	coding	Benign
3	10358829	G	T	G10358829T	ATP2B2	NM_001001331.4(ATP2B2):c.1998C>A:p.Cys666Ter	coding	Pathogenic
3	10358864	C	A	C10358864A	ATP2B2	NM_001001331.4(ATP2B2):c.1963G>T:p.Glu655Ter	coding	Pathogenic
3	10358959	G	A	G10358959A	ATP2B2	NM_001001331.4(ATP2B2):c.1902-34C>T	noncoding	Benign
3	10359243	G	T	G10359243T	ATP2B2	NM_001001331.4(ATP2B2):c.1902-318C>A	noncoding	Benign
3	10359932	G	A	G10359932A	ATP2B2	NM_001001331.4(ATP2B2):c.1851C>T:p.Asp617=	coding	Benign
3	10360070	G	T	G10360070T	ATP2B2	NM_001001331.4(ATP2B2):c.1713C>A:p.Cys571Ter	coding	Pathogenic
3	10360076	C	T	C10360076T	ATP2B2	NM_001001331.4(ATP2B2):c.1707G>A:p.Thr569=	coding	Benign
3	10360172	G	T	G10360172T	ATP2B2	NM_001001331.4(ATP2B2):c.1660-49C>A	noncoding	Benign
3	10360269	T	C	T10360269C	ATP2B2	NM_001001331.4(ATP2B2):c.1660-146A>G	noncoding	Benign
3	10360419	G	A	G10360419A	ATP2B2	NM_001001331.4(ATP2B2):c.1660-296C>T	noncoding	Benign
3	10371513	C	T	C10371513T	ATP2B2	NM_001001331.4(ATP2B2):c.1659+296G>A	noncoding	Benign
3	10371657	C	G	C10371657G	ATP2B2	NM_001001331.4(ATP2B2):c.1659+152G>C	noncoding	Benign
3	10371707	C	T	C10371707T	ATP2B2	NM_001001331.4(ATP2B2):c.1659+102G>A	noncoding	Benign
3	10371917	G	A	G10371917A	ATP2B2	NM_001001331.4(ATP2B2):c.1551C>T:p.Gly517=	coding	Benign
3	10372031	G	A	G10372031A	ATP2B2	NM_001001331.4(ATP2B2):c.1437C>T:p.Asn479=	coding	Benign
3	10372237	G	T	G10372237T	ATP2B2	NM_001001331.4(ATP2B2):c.1417-186C>A	noncoding	Benign
3	10375662	C	T	C10375662T	ATP2B2	NM_001001331.4(ATP2B2):c.1202-18G>A	noncoding	Benign
3	10378172	C	G	C10378172G	ATP2B2	NM_001001331.4(ATP2B2):c.1201+80G>C	noncoding	Benign
3	10378403	T	C	T10378403C	ATP2B2	NM_001001331.4(ATP2B2):c.1050A>G:p.Gln350=	coding	Benign
3	10378429	G	A	G10378429A	ATP2B2	NM_001001331.4(ATP2B2):c.1043-19C>T	noncoding	Benign
3	10378617	G	A	G10378617A	ATP2B2	NM_001001331.4(ATP2B2):c.1043-207C>T	noncoding	Benign
3	10379086	A	T	A10379086T	ATP2B2	NM_001001331.4(ATP2B2):c.1042+157T>A	noncoding	Benign
3	10379191	G	A	G10379191A	ATP2B2	NM_001001331.4(ATP2B2):c.1042+52C>T	noncoding	Benign
3	10379423	A	G	A10379423G	ATP2B2	NM_001001331.4(ATP2B2):c.1001-139T>C	noncoding	Benign
3	10379556	C	T	C10379556T	ATP2B2	NM_001001331.4(ATP2B2):c.1001-272G>A	noncoding	Benign
3	10385407	T	C	T10385407C	ATP2B2	NM_001001331.4(ATP2B2):c.941-80A>G	noncoding	Benign
3	10385506	C	T	C10385506T	ATP2B2	NM_001001331.4(ATP2B2):c.941-179G>A	noncoding	Benign
3	10385550	A	G	A10385550G	ATP2B2	NM_001001331.4(ATP2B2):c.941-223T>C	noncoding	Benign
3	10386579	G	A	G10386579A	ATP2B2	NM_001001331.4(ATP2B2):c.908-67C>T	noncoding	Benign
3	10386655	C	T	C10386655T	ATP2B2	NM_001001331.4(ATP2B2):c.908-143G>A	noncoding	Benign
3	10386796	A	G	A10386796G	ATP2B2	NM_001001331.4(ATP2B2):c.908-284T>C	noncoding	Benign
3	10388224	A	T	A10388224T	ATP2B2	NM_001001331.4(ATP2B2):c.907+53T>A	noncoding	Benign
3	10400755	G	A	G10400755A	ATP2B2	NM_001001331.4(ATP2B2):c.781+198C>T	noncoding	Benign
3	10400855	A	G	A10400855G	ATP2B2	NM_001001331.4(ATP2B2):c.781+98T>C	noncoding	Benign
3	10401095	C	T	C10401095T	ATP2B2	NM_001001331.4(ATP2B2):c.656-17G>A	noncoding	Benign
3	10401223	G	A	G10401223A	ATP2B2	NM_001001331.4(ATP2B2):c.656-145C>T	noncoding	Benign
3	10401228	T	A	T10401228A	ATP2B2	NM_001001331.4(ATP2B2):c.656-150A>T	noncoding	Benign
3	10401316	C	T	C10401316T	ATP2B2	NM_001001331.4(ATP2B2):c.656-238G>A	noncoding	Benign
3	10401406	A	C	A10401406C	ATP2B2	NM_001001331.4(ATP2B2):c.656-328T>G	noncoding	Benign
3	10402122	G	A	G10402122A	ATP2B2	NM_001001331.4(ATP2B2):c.624C>T:p.Ile208=	coding	Benign
3	10402143	G	C	G10402143C	ATP2B2	NM_001001331.4(ATP2B2):c.603C>G:p.Val201=	coding	Benign
3	10410468	C	T	C10410468T	ATP2B2	NM_001001331.4(ATP2B2):c.397+150G>A	noncoding	Benign
3	10410547	G	A	G10410547A	ATP2B2	NM_001001331.4(ATP2B2):c.397+71C>T	noncoding	Benign
3	10410586	G	A	G10410586A	ATP2B2	NM_001001331.4(ATP2B2):c.397+32C>T	noncoding	Benign
3	10410942	A	T	A10410942T	ATP2B2	NM_001001331.4(ATP2B2):c.200-127T>A	noncoding	Benign
3	10449293	C	T	C10449293T	ATP2B2	NM_001001331.4(ATP2B2):c.199+52G>A	noncoding	Benign
3	11015683	G	A	G11015683A	SLC6A1	NM_003042.4(SLC6A1):c.-204G>A	noncoding	Benign
3	11016816	T	C	T11016816C	SLC6A1	NM_003042.4(SLC6A1):c.-153-243T>C	noncoding	Benign
3	11016978	C	T	C11016978T	SLC6A1	NM_003042.4(SLC6A1):c.-153-81C>T	noncoding	Benign
3	11016994	G	C	G11016994C	SLC6A1	NM_003042.4(SLC6A1):c.-153-65G>C	noncoding	Benign
3	11017249	T	C	T11017249C	SLC6A1	NM_003042.4(SLC6A1):c.38T>C:p.Ile13Thr	coding	Benign
3	11017251	T	C	T11017251C	SLC6A1	NM_003042.4(SLC6A1):c.40T>C:p.Ser14Pro	coding	Benign
3	11017300	T	A	T11017300A	SLC6A1	NM_003042.4(SLC6A1):c.89T>A:p.Leu30Ter	coding	Pathogenic
3	11017360	G	A	G11017360A	SLC6A1	NM_003042.4(SLC6A1):c.149G>A:p.Arg50His	coding	Benign
3	11017410	G	A	G11017410A	SLC6A1	NM_003042.4(SLC6A1):c.199G>A:p.Val67Ile	coding	Pathogenic
3	11017434	G	A	G11017434A	SLC6A1	NM_003042.4(SLC6A1):c.223G>A:p.Gly75Arg	coding	Pathogenic/Likely_pathogenic
3	11017463	C	T	C11017463T	SLC6A1	NM_003042.4(SLC6A1):c.238+14C>T	noncoding	Benign
3	11017466	G	A	G11017466A	SLC6A1	NM_003042.4(SLC6A1):c.238+17G>A	noncoding	Benign
3	11017932	A	G	A11017932G	SLC6A1	NM_003042.4(SLC6A1):c.328A>G:p.Ile110Val	coding	Benign
3	11018161	G	A	G11018161A	SLC6A1	NM_003042.4(SLC6A1):c.370+187G>A	noncoding	Benign
3	11018275	C	T	C11018275T	SLC6A1	NM_003042.4(SLC6A1):c.370+301C>T	noncoding	Benign
3	11018310	A	G	A11018310G	SLC6A1	NM_003042.4(SLC6A1):c.371-288A>G	noncoding	Benign
3	11018600	G	A	G11018600A	SLC6A1	NM_003042.4(SLC6A1):c.373G>A:p.Val125Met	coding	Pathogenic
3	11018744	G	C	G11018744C	SLC6A1	NM_003042.4(SLC6A1):c.471+46G>C	noncoding	Benign
3	11018936	C	G	C11018936G	SLC6A1	NM_003042.4(SLC6A1):c.471+238C>G	noncoding	Benign
3	11018985	C	T	C11018985T	SLC6A1	NM_003042.4(SLC6A1):c.471+287C>T	noncoding	Benign
3	11018987	G	C	G11018987C	SLC6A1	NM_003042.4(SLC6A1):c.471+289G>C	noncoding	Benign
3	11020233	C	T	C11020233T	SLC6A1	NM_003042.4(SLC6A1):c.492C>T:p.Cys164=	coding	Benign/Likely_benign
3	11020279	G	T	G11020279T	SLC6A1	NM_003042.4(SLC6A1):c.538G>T:p.Val180Phe	coding	Benign
3	11020280	T	G	T11020280G	SLC6A1	NM_003042.4(SLC6A1):c.539T>G:p.Val180Gly	coding	Benign
3	11020376	C	T	C11020376T	SLC6A1	NM_003042.4(SLC6A1):c.581+54C>T	noncoding	Benign
3	11022177	G	A	G11022177A	SLC6A1	NM_003042.4(SLC6A1):c.582-159G>A	noncoding	Benign
3	11022360	C	G	C11022360G	SLC6A1	NM_003042.4(SLC6A1):c.606C>G:p.Asp202Glu	coding	Benign/Likely_benign
3	11022444	G	A	G11022444A	SLC6A1	NM_003042.4(SLC6A1):c.690G>A:p.Trp230Ter	coding	Pathogenic
3	11022465	A	T	A11022465T	SLC6A1	NM_003042.4(SLC6A1):c.711A>T:p.Gly237=	coding	Benign
3	11025156	A	C	A11025156C	SLC6A1	NM_003042.4(SLC6A1):c.715-293A>C	noncoding	Benign
3	11025190	A	T	A11025190T	SLC6A1	NM_003042.4(SLC6A1):c.715-259A>T	noncoding	Benign
3	11025371	C	T	C11025371T	SLC6A1	NM_003042.4(SLC6A1):c.715-78C>T	noncoding	Benign
3	11025535	C	T	C11025535T	SLC6A1	NM_003042.4(SLC6A1):c.801C>T:p.Gly267=	coding	Benign/Likely_benign
3	11025563	C	T	C11025563T	SLC6A1	NM_003042.4(SLC6A1):c.829C>T:p.Arg277Cys	coding	Benign
3	11025603	C	T	C11025603T	SLC6A1	NM_003042.4(SLC6A1):c.849+20C>T	noncoding	Benign
3	11025655	G	A	G11025655A	SLC6A1	NM_003042.4(SLC6A1):c.849+72G>A	noncoding	Benign
3	11025778	G	A	G11025778A	SLC6A1	NM_003042.4(SLC6A1):c.855G>A:p.Trp285Ter	coding	Pathogenic
3	11025787	G	A	G11025787A	SLC6A1	NM_003042.4(SLC6A1):c.864G>A:p.Ala288=	coding	Benign
3	11025811	C	G	C11025811G	SLC6A1	NM_003042.4(SLC6A1):c.888C>G:p.Tyr296Ter	coding	Pathogenic
3	11025894	C	T	C11025894T	SLC6A1	NM_003042.4(SLC6A1):c.953+18C>T	noncoding	Benign
3	11025895	G	A	G11025895A	SLC6A1	NM_003042.4(SLC6A1):c.953+19G>A	noncoding	Benign
3	11026274	C	T	C11026274T	SLC6A1	NM_003042.4(SLC6A1):c.993C>T:p.Ser331=	coding	Benign
3	11026325	C	T	C11026325T	SLC6A1	NM_003042.4(SLC6A1):c.1044C>T:p.Val348=	coding	Benign/Likely_benign
3	11028505	G	A	G11028505A	SLC6A1	NM_003042.4(SLC6A1):c.1079-230G>A	noncoding	Benign
3	11028721	A	G	A11028721G	SLC6A1	NM_003042.4(SLC6A1):c.1079-14A>G	noncoding	Benign
3	11028740	G	A	G11028740A	SLC6A1	NM_003042.4(SLC6A1):c.1084G>A:p.Gly362Arg	coding	Pathogenic/Likely_pathogenic
3	11028748	G	A	G11028748A	SLC6A1	NM_003042.4(SLC6A1):c.1092G>A:p.Ala364=	coding	Benign/Likely_benign
3	11028760	C	G	C11028760G	SLC6A1	NM_003042.4(SLC6A1):c.1104C>G:p.Tyr368Ter	coding	Pathogenic
3	11028862	C	T	C11028862T	SLC6A1	NM_003042.4(SLC6A1):c.1191+15C>T	noncoding	Benign
3	11028865	G	A	G11028865A	SLC6A1	NM_003042.4(SLC6A1):c.1191+18G>A	noncoding	Benign
3	11029178	G	T	G11029178T	SLC6A1	NM_003042.4(SLC6A1):c.1192-43G>T	noncoding	Benign
3	11029184	G	A	G11029184A	SLC6A1	NM_003042.4(SLC6A1):c.1192-37G>A	noncoding	Benign
3	11029197	G	T	G11029197T	SLC6A1	NM_003042.4(SLC6A1):c.1192-24G>T	noncoding	Benign
3	11029242	A	C	A11029242C	SLC6A1	NM_003042.4(SLC6A1):c.1213A>C:p.Ile405Leu	coding	Benign
3	11029242	A	G	A11029242G	SLC6A1	NM_003042.4(SLC6A1):c.1213A>G:p.Ile405Val	coding	Benign
3	11029252	T	G	T11029252G	SLC6A1	NM_003042.4(SLC6A1):c.1223T>G:p.Leu408Arg	coding	Pathogenic
3	11029353	G	A	G11029353A	SLC6A1	NM_003042.4(SLC6A1):c.1323+1G>A	coding	Pathogenic
3	11029558	A	G	A11029558G	SLC6A1	NM_003042.4(SLC6A1):c.1323+206A>G	noncoding	Benign
3	11031563	G	A	G11031563A	SLC6A1	NM_003042.4(SLC6A1):c.1426+284G>A	noncoding	Benign
3	11033328	C	T	C11033328T	SLC6A1	NM_003042.4(SLC6A1):c.1427-311C>T	noncoding	Benign
3	11033498	C	T	C11033498T	SLC6A1	NM_003042.4(SLC6A1):c.1427-141C>T	noncoding	Benign
3	11033707	T	C	T11033707C	SLC6A1	NM_003042.4(SLC6A1):c.1495T>C:p.Cys499Arg	coding	Pathogenic
3	11033725	C	A	C11033725A	SLC6A1	NM_003042.4(SLC6A1):c.1513C>A:p.Pro505Thr	coding	Pathogenic
3	11033775	G	A	G11033775A	SLC6A1	NM_003042.4(SLC6A1):c.1527+36G>A	noncoding	Benign
3	11033817	T	C	T11033817C	SLC6A1	NM_003042.4(SLC6A1):c.1527+78T>C	noncoding	Benign
3	11034059	G	T	G11034059T	SLC6A1	NM_003042.4(SLC6A1):c.1527+320G>T	noncoding	Benign
3	11034213	T	C	T11034213C	SLC6A1	NM_003042.4(SLC6A1):c.1528-318T>C	noncoding	Benign
3	11034226	T	C	T11034226C	SLC6A1	NM_003042.4(SLC6A1):c.1528-305T>C	noncoding	Benign
3	11034304	T	C	T11034304C	SLC6A1	NM_003042.4(SLC6A1):c.1528-227T>C	noncoding	Benign
3	11034601	G	C	G11034601C	SLC6A1	NM_003042.4(SLC6A1):c.1598G>C:p.Gly533Ala	coding	Benign
3	11034666	A	G	A11034666G	SLC6A1	NM_003042.4(SLC6A1):c.1663A>G:p.Met555Val	coding	Benign
3	11034714	C	G	C11034714G	SLC6A1	NM_003042.4(SLC6A1):c.1695+16C>G	noncoding	Benign
3	11036687	G	A	G11036687A	SLC6A1	NM_003042.4(SLC6A1):c.1696-175G>A	noncoding	Benign
3	11036890	A	T	A11036890T	SLC6A1	NM_003042.4(SLC6A1):c.1724A>T:p.Glu575Val	coding	Benign
3	11036904	C	T	C11036904T	SLC6A1	NM_003042.4(SLC6A1):c.1738C>T:p.Pro580Ser	coding	Benign/Likely_benign
3	11036932	C	T	C11036932T	SLC6A1	NM_003042.4(SLC6A1):c.1766C>T:p.Ala589Val	coding	Benign
3	11332986	A	G	A11332986G	ATG7	NM_001349232.2(ATG7):c.782A>G:p.Gln261Arg	coding	Pathogenic
3	11348028	C	T	C11348028T	ATG7	NM_001349232.2(ATG7):c.1277C>T:p.Pro426Leu	coding	Pathogenic
3	11358545	T	C	T11358545C	ATG7	NM_001349232.2(ATG7):c.1412T>C:p.Val471Ala	coding	Pathogenic
3	11360633	G	A	G11360633A	ATG7	NM_001349232.2(ATG7):c.1532G>A:p.Gly511Asp	coding	Pathogenic
3	11360636	T	C	T11360636C	ATG7	NM_001349232.2(ATG7):c.1535T>C:p.Leu512Pro	coding	Pathogenic
3	11362856	G	A	G11362856A	ATG7	NM_001349232.2(ATG7):c.1727G>A:p.Arg576His	coding	Pathogenic
3	11364729	C	T	C11364729T	ATG7	NM_001349232.2(ATG7):c.1870C>T:p.His624Tyr	coding	Pathogenic
3	11426822	C	T	C11426822T	ATG7	NM_001349232.2(ATG7):c.1975C>T:p.Arg659Ter	coding	Pathogenic
3	11554809	A	G	A11554809G	ATG7	NM_001349232.2(ATG7):c.2080-2A>G	noncoding	Pathogenic
3	11839221	C	A	C11839221A	TAMM41	NM_001284401.2(TAMM41):c.411+1G>T	noncoding	Pathogenic
3	11839304	T	C	T11839304C	TAMM41	NM_001284401.2(TAMM41):c.329A>G:p.Tyr110Cys	coding	Pathogenic
3	11844091	A	G	A11844091G	TAMM41	NM_001284401.2(TAMM41):c.256T>C:p.Ser86Pro	coding	Pathogenic
3	12187515	A	G	A12187515G	SYN2	NM_133625.6(SYN2):c.1516A>G:p.Thr506Ala	coding	Benign
3	12351626	C	G	C12351626G	PPARG	NM_138711.6(PPARG):c.-8-28078C>G	coding	Benign/Likely_benign
3	12379590	C	T	C12379590T	PPARG	NM_138711.6(PPARG):c.-8-114C>T	noncoding	Benign
3	12381463	A	G	A12381463G	PPARG	NM_138711.6(PPARG):c.362A>G:p.Tyr121Cys	coding	Pathogenic/Likely_pathogenic
3	12381767	T	C	T12381767C	PPARG	NM_138711.6(PPARG):c.390+276T>C	noncoding	Benign
3	12392571	G	C	G12392571C	PPARG	NM_138711.6(PPARG):c.391-43G>C	noncoding	Benign
3	12405654	G	T	G12405654T	PPARG	NM_138711.6(PPARG):c.530-228G>T	noncoding	Benign
3	12405881	G	A	G12405881A	PPARG	NM_138711.6(PPARG):c.530-1G>A	noncoding	Pathogenic
3	12406315	C	G	C12406315G	PPARG	NM_138711.6(PPARG):c.729+234C>G	noncoding	Benign
3	12416423	C	T	C12416423T	PPARG	NM_138711.6(PPARG):c.730-281C>T	noncoding	Benign
3	12433589	C	T	C12433589T	PPARG	NM_138711.6(PPARG):c.1181-309C>T	noncoding	Benign
3	12433663	A	C	A12433663C	PPARG	NM_138711.6(PPARG):c.1181-235A>C	noncoding	Benign
3	12433896	A	T	A12433896T	PPARG	NM_138711.6(PPARG):c.1181-2A>T	noncoding	Pathogenic
3	12433901	G	A	G12433901A	PPARG	NM_138711.6(PPARG):c.1184G>A:p.Arg395His	coding	Pathogenic
3	12434058	C	T	C12434058T	PPARG	NM_138711.6(PPARG):c.1341C>T:p.His447=	coding	Benign/Likely_benign
3	12484507	G	A	G12484507A	TSEN2	NM_025265.4(TSEN2):c.-391G>A	noncoding	Benign/Likely_benign
3	12484881	G	T	G12484881T	TSEN2	NM_025265.4(TSEN2):c.-18+1G>T	noncoding	Benign
3	12484903	G	C	G12484903C	TSEN2	NM_025265.4(TSEN2):c.-18+23G>C	noncoding	Benign
3	12489566	G	T	G12489566T	TSEN2	NM_025265.4(TSEN2):c.-17-218G>T	noncoding	Benign
3	12489666	T	A	T12489666A	TSEN2	NM_025265.4(TSEN2):c.-17-118T>A	noncoding	Benign
3	12490082	A	G	A12490082G	TSEN2	NM_025265.4(TSEN2):c.189+93A>G	noncoding	Benign
3	12496255	A	G	A12496255G	TSEN2	NM_025265.4(TSEN2):c.272-263A>G	noncoding	Benign
3	12496456	T	A	T12496456A	TSEN2	NM_025265.4(TSEN2):c.272-62T>A	noncoding	Benign
3	12505246	T	C	T12505246C	TSEN2	NM_025265.4(TSEN2):c.909+15T>C	noncoding	Benign
3	12505265	G	A	G12505265A	TSEN2	NM_025265.4(TSEN2):c.909+34G>A	noncoding	Benign
3	12516444	A	G	A12516444G	TSEN2	NM_025265.4(TSEN2):c.910-167A>G	noncoding	Benign
3	12516446	A	G	A12516446G	TSEN2	NM_025265.4(TSEN2):c.910-165A>G	noncoding	Benign
3	12518818	A	G	A12518818G	TSEN2	NM_025265.4(TSEN2):c.961-241A>G	noncoding	Benign
3	12519264	A	T	A12519264T	TSEN2	NM_025265.4(TSEN2):c.1099+67A>T	noncoding	Benign
3	12529073	C	T	C12529073T	TSEN2	NM_025265.4(TSEN2):c.1136+149C>T	noncoding	Benign
3	12584640	C	T	C12584640T	RAF1	NM_002880.4(RAF1):c.1821G>A:p.Glu607=	coding	Benign/Likely_benign
3	12585004	G	A	G12585004A	RAF1	NM_002880.4(RAF1):c.1669-23C>T	noncoding	Benign
3	12585012	G	T	G12585012T	RAF1	NM_002880.4(RAF1):c.1669-31C>A	noncoding	Benign
3	12585092	T	C	T12585092C	RAF1	NM_002880.4(RAF1):c.1668+30A>G	noncoding	Benign
3	12585293	A	G	A12585293G	RAF1	NM_002880.4(RAF1):c.1537-40T>C	noncoding	Benign
3	12585667	G	C	G12585667C	RAF1	NM_002880.4(RAF1):c.1536+14C>G	noncoding	Benign/Likely_benign
3	12587551	A	G	A12587551G	RAF1	NM_002880.4(RAF1):c.1417+40T>C	noncoding	Benign
3	12587652	G	T	G12587652T	RAF1	NM_002880.4(RAF1):c.1371-15C>A	noncoding	Benign/Likely_benign
3	12587682	G	A	G12587682A	RAF1	NM_002880.4(RAF1):c.1371-45C>T	noncoding	Benign
3	12590995	G	A	G12590995A	RAF1	NM_002880.4(RAF1):c.1194-21C>T	noncoding	Benign
3	12599926	T	C	T12599926C	RAF1	NM_002880.4(RAF1):c.991-118A>G	noncoding	Benign
3	12603508	C	T	C12603508T	RAF1	NM_002880.4(RAF1):c.834+628G>A	noncoding	Benign
3	12604128	C	T	C12604128T	RAF1	NM_002880.4(RAF1):c.834+8G>A	noncoding	Benign/Likely_benign
3	12604185	T	A	T12604185A	RAF1	NM_002880.4(RAF1):c.785A>T:p.Asn262Ile	coding	Pathogenic/Likely_pathogenic
3	12604191	G	T	G12604191T	RAF1	NM_002880.4(RAF1):c.779C>A:p.Thr260Lys	coding	Pathogenic/Likely_pathogenic
3	12604192	T	G	T12604192G	RAF1	NM_002880.4(RAF1):c.778A>C:p.Thr260Pro	coding	Pathogenic/Likely_pathogenic
3	12606208	G	A	G12606208A	RAF1	NM_002880.4(RAF1):c.673C>T:p.Pro225Ser	coding	Benign
3	12608771	T	C	T12608771C	RAF1	NM_002880.4(RAF1):c.576A>G:p.Gln192=	coding	Benign/Likely_benign
3	12608816	G	A	G12608816A	RAF1	NM_002880.4(RAF1):c.531C>T:p.Ser177=	coding	Benign/Likely_benign
3	12608983	T	A	T12608983A	RAF1	NM_002880.4(RAF1):c.424-60A>T	noncoding	Benign
3	12612103	A	G	A12612103G	RAF1	NM_002880.4(RAF1):c.208-41T>C	noncoding	Benign
3	12618641	G	A	G12618641A	RAF1	NM_002880.4(RAF1):c.81C>T:p.Cys27=	coding	Benign/Likely_benign
3	12618662	G	A	G12618662A	RAF1	NM_002880.4(RAF1):c.60C>T:p.Ala20=	coding	Benign/Likely_benign
3	12618759	C	T	C12618759T	RAF1	NM_002880.4(RAF1):c.-26-12G>A	noncoding	Benign
3	12618792	C	T	C12618792T	RAF1	NM_002880.4(RAF1):c.-26-45G>A	noncoding	Benign
3	12619137	C	G	C12619137G	RAF1	NM_002880.4(RAF1):c.-26-390G>C	noncoding	Benign
3	12663665	A	G	A12663665G	RAF1	NM_002880.4(RAF1):c.-27+148T>C	noncoding	Benign
3	12663674	A	G	A12663674G	RAF1	NM_002880.4(RAF1):c.-27+139T>C	noncoding	Benign
3	12663709	G	A	G12663709A	RAF1	NM_002880.4(RAF1):c.-27+104C>T	noncoding	Benign
3	12663956	G	A	G12663956A	RAF1	NM_002880.4(RAF1):c.-170C>T	noncoding	Benign
3	12664066	C	A	C12664066A	RAF1	NM_002880.4(RAF1):c.-280G>T	noncoding	Benign
3	13316486	A	G	A13316486G	NUP210	NM_024923.4(NUP210):c.*1195T>C	noncoding	Benign
3	13628981	A	G	A13628981G	FBLN2	NM_001004019.2(FBLN2):c.2646A>G:p.Thr882=	coding	Benign
3	13629036	A	G	A13629036G	FBLN2	NM_001004019.2(FBLN2):c.2701A>G:p.Thr901Ala	coding	Benign
3	13629276	T	C	T13629276C	FBLN2	NM_001004019.2(FBLN2):c.2826T>C:p.Phe942=	coding	Benign
3	13819217	C	T	C13819217T	WNT7A	NM_004625.4(WNT7A):c.777G>A:p.Ser259=	coding	Benign
3	13819460	A	G	A13819460G	WNT7A	NM_004625.4(WNT7A):c.571-37T>C	noncoding	Benign
3	13854309	T	C	T13854309C	WNT7A	NM_004625.4(WNT7A):c.570+223A>G	noncoding	Benign
3	13854320	C	G	C13854320G	WNT7A	NM_004625.4(WNT7A):c.570+212G>C	noncoding	Benign
3	13854643	A	G	A13854643G	WNT7A	NM_004625.4(WNT7A):c.459T>C:p.Ser153=	coding	Benign
3	13854787	C	T	C13854787T	WNT7A	NM_004625.4(WNT7A):c.315G>A:p.Ala105=	coding	Benign
3	13874910	G	T	G13874910T	WNT7A	NM_004625.4(WNT7A):c.298+37C>A	noncoding	Benign
3	13875297	G	T	G13875297T	WNT7A	NM_004625.4(WNT7A):c.72-124C>A	noncoding	Benign
3	13879980	G	T	G13879980T	WNT7A	NM_004625.4(WNT7A):c.-164C>A	noncoding	Benign
3	13880162	G	T	G13880162T	WNT7A	Single_allele	noncoding	Benign
3	13880326	C	T	C13880326T	WNT7A	Single_allele	noncoding	Benign
3	14125052	G	A	G14125052A	TMEM43	NM_024334.2(TMEM43):c.-142G>A	noncoding	Benign
3	14125163	G	A	G14125163A	TMEM43	NM_024334.3(TMEM43):c.-31G>A	noncoding	Benign
3	14128893	G	A	G14128893A	TMEM43	NM_024334.3(TMEM43):c.13-519G>A	noncoding	Benign
3	14128895	A	G	A14128895G	TMEM43	NM_024334.3(TMEM43):c.13-517A>G	noncoding	Benign
3	14129582	C	T	C14129582T	TMEM43	NM_024334.3(TMEM43):c.162+21C>T	noncoding	Benign/Likely_benign
3	14130809	C	T	C14130809T	TMEM43	NM_024334.3(TMEM43):c.163-13C>T	noncoding	Benign
3	14130848	A	G	A14130848G	TMEM43	NM_024334.3(TMEM43):c.189A>G:p.Ser63=	coding	Benign/Likely_benign
3	14130924	G	A	G14130924A	TMEM43	NM_024334.3(TMEM43):c.265G>A:p.Val89Met	coding	Benign/Likely_benign
3	14132582	G	A	G14132582A	TMEM43	NM_024334.3(TMEM43):c.429G>A:p.Thr143=	coding	Benign/Likely_benign
3	14132602	G	A	G14132602A	TMEM43	NM_024334.3(TMEM43):c.442+7G>A	noncoding	Benign/Likely_benign
3	14132607	G	C	G14132607C	TMEM43	NM_024334.3(TMEM43):c.442+12G>C	noncoding	Benign/Likely_benign
3	14132944	C	G	C14132944G	TMEM43	NM_024334.3(TMEM43):c.512+9C>G	noncoding	Benign/Likely_benign
3	14133649	G	A	G14133649A	TMEM43	NM_024334.3(TMEM43):c.513-90G>A	noncoding	Benign
3	14134787	G	A	G14134787A	TMEM43	NM_024334.3(TMEM43):c.601G>A:p.Asp201Asn	coding	Benign/Likely_benign
3	14134878	C	T	C14134878T	TMEM43	NM_024334.3(TMEM43):c.692C>T:p.Pro231Leu	coding	Benign/Likely_benign
3	14135860	G	A	G14135860A	TMEM43	NM_024334.3(TMEM43):c.834G>A:p.Lys278=	coding	Benign/Likely_benign
3	14141697	C	T	C14141697T	TMEM43	NM_024334.3(TMEM43):c.1105C>T:p.Leu369Phe	coding	Benign/Likely_benign
3	14141753	C	T	C14141753T	TMEM43	NM_024334.3(TMEM43):c.1161C>T:p.Ile387=	coding	Benign
3	14141811	C	T	C14141811T	TMEM43	NM_024334.3(TMEM43):c.*16C>T	noncoding	Benign
3	14141826	T	C	T14141826C	TMEM43	NM_024334.3(TMEM43):c.*31T>C	noncoding	Benign
3	14142012	G	A	G14142012A	TMEM43;XPC	NM_024334.3(TMEM43):c.*217G>A	noncoding	Benign/Likely_benign
3	14145949	G	T	G14145949T	TMEM43;XPC	NM_004628.5(XPC):c.2815C>A:p.Gln939Lys	coding	Benign/Likely_benign
3	14146210	T	C	T14146210C	XPC	NM_004628.5(XPC):c.2605-51A>G	noncoding	Benign
3	14147200	C	A	C14147200A	XPC	NM_004628.5(XPC):c.2604+90G>T	noncoding	Benign
3	14147350	C	T	C14147350T	XPC	NM_004628.5(XPC):c.2544G>A:p.Trp848Ter	coding	Pathogenic
3	14147647	A	G	A14147647G	XPC	NM_004628.5(XPC):c.2514+261T>C	noncoding	Benign
3	14147840	A	G	A14147840G	XPC	NM_004628.5(XPC):c.2514+68T>C	noncoding	Benign
3	14148077	A	G	A14148077G	XPC	NM_004628.5(XPC):c.2421-76T>C	noncoding	Benign
3	14148250	G	A	G14148250A	XPC	NM_004628.5(XPC):c.2421-249C>T	noncoding	Benign
3	14148719	C	A	C14148719A	XPC	NM_004628.5(XPC):c.2263G>T:p.Glu755Ter	coding	Pathogenic
3	14148813	C	T	C14148813T	XPC	NM_004628.5(XPC):c.2250+1G>A	noncoding	Pathogenic
3	14148840	G	A	G14148840A	XPC	NM_004628.5(XPC):c.2224C>T:p.Gln742Ter	coding	Pathogenic
3	14148912	G	A	G14148912A	XPC	NM_004628.5(XPC):c.2152C>T:p.Arg718Ter	coding	Pathogenic/Likely_pathogenic
3	14152594	T	G	T14152594G	XPC	NM_004628.5(XPC):c.2034-178A>C	noncoding	Benign
3	14152689	C	T	C14152689T	XPC	NM_004628.5(XPC):c.2034-273G>A	noncoding	Benign
3	14156046	A	G	A14156046G	XPC	NM_004628.5(XPC):c.2033+289T>C	noncoding	Benign
3	14156340	G	C	G14156340C	XPC	NM_004628.5(XPC):c.2028C>G:p.Tyr676Ter	coding	Pathogenic
3	14156358	A	T	A14156358T	XPC	NM_004628.5(XPC):c.2010T>A:p.Cys670Ter	coding	Pathogenic
3	14156471	G	A	G14156471A	XPC	NM_004628.5(XPC):c.1897C>T:p.Pro633Ser	coding	Benign
3	14158973	G	A	G14158973A	XPC	NM_004628.5(XPC):c.991-81C>T	noncoding	Benign
3	14159900	T	G	T14159900G	XPC	NM_004628.5(XPC):c.901-70A>C	noncoding	Benign
3	14159956	G	C	G14159956C	XPC	NM_004628.5(XPC):c.901-126C>G	noncoding	Benign
3	14164617	C	T	C14164617T	XPC	NM_004628.5(XPC):c.900+196G>A	noncoding	Benign
3	14164887	G	A	G14164887A	XPC	NM_004628.5(XPC):c.826C>T:p.Gln276Ter	coding	Pathogenic
3	14165427	C	A	C14165427A	XPC	NM_004628.5(XPC):c.779+1G>T	noncoding	Pathogenic/Likely_pathogenic
3	14167130	G	A	G14167130A	XPC	NM_004628.5(XPC):c.621+39C>T	noncoding	Benign
3	14167147	C	T	C14167147T	XPC	NM_004628.5(XPC):c.621+22G>A	noncoding	Benign
3	14168539	A	G	A14168539G	XPC	NM_004628.5(XPC):c.413-159T>C	noncoding	Benign
3	14170365	C	A	C14170365A	XPC	NM_004628.5(XPC):c.412+73G>T	noncoding	Benign
3	14170758	C	A	C14170758A	XPC	NM_004628.5(XPC):c.300-208G>T	noncoding	Benign
3	14172600	A	G	A14172600G	XPC	NM_004628.5(XPC):c.299+267T>C	noncoding	Benign
3	14172865	A	C	A14172865C	XPC	NM_004628.5(XPC):c.299+2T>G	noncoding	Pathogenic
3	14172946	T	A	T14172946A	XPC	NM_004628.5(XPC):c.220A>T:p.Lys74Ter	coding	Pathogenic
3	14178465	C	T	C14178465T	XPC	NM_004628.5(XPC):c.103+1G>A	noncoding	Pathogenic/Likely_pathogenic
3	14178939	C	T	C14178939T	XPC	NM_014463.3(LSM3):c.21+58C>T	noncoding	Benign/Likely_benign
3	14179017	C	G	C14179017G	XPC	NM_014463.3(LSM3):c.21+136C>G	noncoding	Benign
3	14655811	A	G	A14655811G	CCDC174	NM_016474.5(CCDC174):c.248+182A>G	noncoding	Benign
3	14661475	C	A	C14661475A	CCDC174	NM_016474.5(CCDC174):c.308-55C>A	noncoding	Benign
3	14661754	G	A	G14661754A	CCDC174	NM_016474.5(CCDC174):c.485+47G>A	noncoding	Benign
3	14661790	C	G	C14661790G	CCDC174	NM_016474.5(CCDC174):c.485+83C>G	noncoding	Benign
3	14661790	C	T	C14661790T	CCDC174	NM_016474.5(CCDC174):c.485+83C>T	noncoding	Benign
3	14665263	A	G	A14665263G	CCDC174	NM_016474.5(CCDC174):c.581+140A>G	noncoding	Benign
3	14667411	A	G	A14667411G	CCDC174	NM_016474.5(CCDC174):c.725-13A>G	noncoding	Benign
3	14667551	G	C	G14667551C	CCDC174	NM_016474.5(CCDC174):c.819+33G>C	noncoding	Benign
3	14670966	G	A	G14670966A	CCDC174	NM_016474.5(CCDC174):c.1176G>A:p.Pro392=	coding	Benign
3	14671361	C	T	C14671361T	CCDC174	NM_016474.5(CCDC174):c.*167C>T	noncoding	Benign
3	15453850	G	A	G15453850A	COLQ	NM_005677.4(COLQ):c.1277C>T:p.Thr426Ile	coding	Pathogenic
3	15453850	G	T	G15453850T	COLQ	NM_005677.4(COLQ):c.1277C>A:p.Thr426Lys	coding	Benign
3	15453931	C	T	C15453931T	COLQ	NM_005677.4(COLQ):c.1196G>A:p.Arg399His	coding	Pathogenic
3	15455680	C	T	C15455680T	COLQ	NM_005677.4(COLQ):c.1195+219G>A	noncoding	Benign
3	15455754	G	A	G15455754A	COLQ	NM_005677.4(COLQ):c.1195+145C>T	noncoding	Benign
3	15455818	C	A	C15455818A	COLQ	NM_005677.4(COLQ):c.1195+81G>T	noncoding	Benign
3	15455897	A	C	A15455897C	COLQ	NM_005677.4(COLQ):c.1195+2T>G	noncoding	Pathogenic
3	15455897	A	G	A15455897G	COLQ	NM_005677.4(COLQ):c.1195+2T>C	noncoding	Pathogenic
3	15455983	G	A	G15455983A	COLQ	NM_005677.4(COLQ):c.1111C>T:p.Gln371Ter	coding	Pathogenic
3	15456101	A	G	A15456101G	COLQ	NM_005677.4(COLQ):c.1075-82T>C	noncoding	Benign
3	15456473	C	T	C15456473T	COLQ	NM_005677.4(COLQ):c.1061G>A:p.Trp354Ter	coding	Pathogenic
3	15456581	T	A	T15456581A	COLQ	NM_005677.4(COLQ):c.955-2A>T	noncoding	Pathogenic
3	15458218	C	T	C15458218T	COLQ	NM_005677.4(COLQ):c.922G>A:p.Val308Met	coding	Benign
3	15459389	C	T	C15459389T	COLQ	NM_005677.4(COLQ):c.815-1064G>A	noncoding	Benign
3	15460623	A	G	A15460623G	COLQ	NM_005677.4(COLQ):c.815-2298T>C	noncoding	Benign
3	15467511	C	T	C15467511T	COLQ	NM_005677.4(COLQ):c.718-1074G>A	noncoding	Benign
3	15467521	A	G	A15467521G	COLQ	NM_005677.4(COLQ):c.718-1084T>C	noncoding	Benign
3	15467705	T	C	T15467705C	COLQ	NM_005677.4(COLQ):c.718-1268A>G	noncoding	Benign
3	15470553	C	A	C15470553A	COLQ	NM_005677.4(COLQ):c.700G>T:p.Gly234Ter	coding	Pathogenic
3	15470735	C	T	C15470735T	COLQ	NM_005677.4(COLQ):c.637-119G>A	noncoding	Benign
3	15470769	G	T	G15470769T	COLQ	NM_005677.4(COLQ):c.637-153C>A	noncoding	Benign
3	15470859	A	G	A15470859G	COLQ	NM_005677.4(COLQ):c.637-243T>C	noncoding	Benign
3	15474924	C	T	C15474924T	COLQ	NM_005677.4(COLQ):c.555+1G>A	noncoding	Pathogenic
3	15475701	C	T	C15475701T	COLQ	NM_005677.4(COLQ):c.466-214G>A	noncoding	Benign
3	15476869	A	G	A15476869G	COLQ	NM_005677.4(COLQ):c.465+257T>C	noncoding	Benign
3	15477147	C	T	C15477147T	COLQ	NM_005677.4(COLQ):c.444G>A:p.Trp148Ter	coding	Pathogenic/Likely_pathogenic
3	15477153	G	A	G15477153A	COLQ	NM_005677.4(COLQ):c.438C>T:p.Ile146=	coding	Benign
3	15479343	C	A	C15479343A	COLQ	NM_005677.4(COLQ):c.361G>T:p.Glu121Ter	coding	Pathogenic
3	15488244	G	A	G15488244A	COLQ	NM_005677.4(COLQ):c.283C>T:p.Gln95Ter	coding	Pathogenic
3	15488248	G	T	G15488248T	COLQ	NM_005677.4(COLQ):c.279C>A:p.Cys93Ter	coding	Pathogenic
3	15488494	C	T	C15488494T	COLQ	NM_005677.4(COLQ):c.220-187G>A	noncoding	Benign
3	15489656	C	T	C15489656T	COLQ	NM_005677.4(COLQ):c.107-19G>A	noncoding	Benign/Likely_benign
3	15489657	G	A	G15489657A	COLQ	NM_005677.4(COLQ):c.107-20C>T	noncoding	Benign
3	15498641	T	G	T15498641G	COLQ	NM_005677.4(COLQ):c.107-9004A>C	coding	Benign
3	15498966	A	C	A15498966C	COLQ	NM_005677.4(COLQ):c.107-9329T>G	noncoding	Benign
3	15521281	C	A	C15521281A	COLQ	NM_005677.4(COLQ):c.106+239G>T	noncoding	Benign
3	15521750	T	C	T15521750C	COLQ	Single_allele	noncoding	Benign
3	15521777	C	T	C15521777T	COLQ	Single_allele	noncoding	Benign
3	15521850	T	C	T15521850C	COLQ	Single_allele	noncoding	Benign
3	15601536	A	G	A15601536G	BTD	NM_012260.4(HACL1):c.-73T>C	noncoding	Benign
3	15601668	G	A	G15601668A	BTD	NM_012260.3(HACL1):c.-205C>T	noncoding	Benign
3	15601975	A	C	A15601975C	BTD	NM_001370658.1(BTD):c.-17+81A>C	coding	Benign
3	15602184	G	A	G15602184A	BTD	NM_001370658.1(BTD):c.-17+290G>A	coding	Benign
3	15635155	G	C	G15635155C	BTD	NM_001370658.1(BTD):c.-16-269G>C	noncoding	Benign
3	15635657	A	G	A15635657G	BTD	NM_001370658.1(BTD):c.218A>G:p.Tyr73Cys	coding	Pathogenic/Likely_pathogenic
3	15635690	C	G	C15635690G	BTD	NM_001370658.1(BTD):c.249+2C>G	noncoding	Pathogenic
3	15635903	A	G	A15635903G	BTD	NM_001370658.1(BTD):c.249+215A>G	noncoding	Benign
3	15642017	G	A	G15642017A	BTD	NM_001370658.1(BTD):c.359G>A:p.Trp120Ter	coding	Pathogenic
3	15642207	T	C	T15642207C	BTD	NM_001370658.1(BTD):c.399+150T>C	coding	Benign
3	15644325	C	T	C15644325T	BTD	NM_001370658.1(BTD):c.409C>T:p.Arg137Cys	coding	Pathogenic/Likely_pathogenic
3	15644335	G	T	G15644335T	BTD	NM_001370658.1(BTD):c.419G>T:p.Cys140Phe	coding	Pathogenic
3	15644340	G	C	G15644340C	BTD	NM_001370658.1(BTD):c.424G>C:p.Ala142Pro	coding	Pathogenic
3	15644432	C	A	C15644432A	BTD	NM_001370658.1(BTD):c.516C>A:p.Tyr172Ter	coding	Pathogenic
3	15644438	C	G	C15644438G	BTD	NM_001370658.1(BTD):c.522C>G:p.Phe174Leu	coding	Pathogenic
3	15644504	C	G	C15644504G	BTD	NM_001370658.1(BTD):c.588C>G:p.Tyr196Ter	coding	Pathogenic
3	15644590	G	A	G15644590A	BTD	NM_001370658.1(BTD):c.674G>A:p.Cys225Tyr	coding	Pathogenic/Likely_pathogenic
3	15644670	T	G	T15644670G	BTD	NM_001370658.1(BTD):c.754T>G:p.Trp252Gly	coding	Pathogenic
3	15644736	A	G	A15644736G	BTD	NM_001370658.1(BTD):c.820A>G:p.Ile274Val	coding	Benign/Likely_benign
3	15645014	G	A	G15645014A	BTD	NM_001370658.1(BTD):c.1098G>A:p.Trp366Ter	coding	Pathogenic/Likely_pathogenic
3	15645170	T	A	T15645170A	BTD	NM_001370658.1(BTD):c.1254T>A:p.Tyr418Ter	coding	Pathogenic/Likely_pathogenic
3	15645195	C	T	C15645195T	BTD	NM_001370658.1(BTD):c.1279C>T:p.His427Tyr	coding	Pathogenic/Likely_pathogenic
3	17010708	C	T	C17010708T	PLCL2	NM_001144382.2(PLCL2):c.1362C>T:p.Ser454=	coding	Benign
3	18349382	G	A	G18349382A	SATB1	NM_002971.6(SATB1):c.2080C>T:p.Gln694Ter	coding	Pathogenic
3	18349538	G	A	G18349538A	SATB1	NM_002971.6(SATB1):c.1924C>T:p.Arg642Ter	coding	Pathogenic
3	18351327	C	T	C18351327T	SATB1	NM_002971.6(SATB1):c.1779+665G>A	coding	Benign
3	18352183	C	T	C18352183T	SATB1	NM_002971.6(SATB1):c.1588G>A:p.Glu530Lys	coding	Pathogenic
3	18386432	G	T	G18386432T	SATB1	NM_002971.6(SATB1):c.1386C>A:p.Pro462=	coding	Benign
3	18386590	G	A	G18386590A	SATB1	NM_002971.6(SATB1):c.1228C>T:p.Arg410Ter	coding	Pathogenic
3	18386598	T	C	T18386598C	SATB1	NM_002971.6(SATB1):c.1220A>G:p.Glu407Gly	coding	Pathogenic
3	18386599	C	G	C18386599G	SATB1	NM_002971.6(SATB1):c.1219G>C:p.Glu407Gln	coding	Pathogenic
3	18394463	T	C	T18394463C	SATB1	NM_002971.6(SATB1):c.1205A>G:p.Gln402Arg	coding	Pathogenic
3	18416990	C	T	C18416990T	SATB1	NM_002971.6(SATB1):c.300G>A:p.Leu100_Val101=	coding	Benign
3	19984917	C	G	C19984917G	RAB5A	NM_004162.5(RAB5A):c.*1094C>G	noncoding	Benign
3	20039856	C	T	C20039856T	KAT2B	Single_allele	noncoding	Benign
3	20039998	A	G	A20039998G	KAT2B	Single_allele	noncoding	Benign
3	20040068	C	T	C20040068T	KAT2B	Single_allele	noncoding	Benign
3	20040309	C	A	C20040309A	KAT2B	Single_allele	noncoding	Benign
3	20040433	G	A	G20040433A	KAT2B	Single_allele	noncoding	Benign
3	20040862	T	G	T20040862G	KAT2B	NM_003884.5(KAT2B):c.303+82T>G	noncoding	Benign
3	20072128	G	A	G20072128A	KAT2B	NM_003884.5(KAT2B):c.304-205G>A	noncoding	Benign
3	20072338	G	A	G20072338A	KAT2B	NM_003884.5(KAT2B):c.309G>A:p.Glu103=	coding	Benign
3	20072497	C	A	C20072497A	KAT2B	NM_003884.5(KAT2B):c.430+38C>A	noncoding	Benign
3	20072552	T	C	T20072552C	KAT2B	NM_003884.5(KAT2B):c.430+93T>C	noncoding	Benign
3	20072556	G	A	G20072556A	KAT2B	NM_003884.5(KAT2B):c.430+97G>A	noncoding	Benign
3	20095119	C	T	C20095119T	KAT2B	NM_003884.5(KAT2B):c.431-144C>T	noncoding	Benign
3	20095153	A	T	A20095153T	KAT2B	NM_003884.5(KAT2B):c.431-110A>T	noncoding	Benign
3	20095191	T	G	T20095191G	KAT2B	NM_003884.5(KAT2B):c.431-72T>G	noncoding	Benign
3	20095467	A	G	A20095467G	KAT2B	NM_003884.5(KAT2B):c.576+59A>G	noncoding	Benign
3	20099773	G	C	G20099773C	KAT2B	NM_003884.5(KAT2B):c.577-89G>C	noncoding	Benign
3	20099809	T	C	T20099809C	KAT2B	NM_003884.5(KAT2B):c.577-53T>C	noncoding	Benign
3	20099809	T	G	T20099809G	KAT2B	NM_003884.5(KAT2B):c.577-53T>G	noncoding	Benign
3	20099816	A	G	A20099816G	KAT2B	NM_003884.5(KAT2B):c.577-46A>G	noncoding	Benign
3	20099864	C	T	C20099864T	KAT2B	NM_003884.5(KAT2B):c.579C>T:p.Leu193=	coding	Benign
3	20100030	A	G	A20100030G	KAT2B	NM_003884.5(KAT2B):c.669+76A>G	noncoding	Benign
3	20101114	G	A	G20101114A	KAT2B	NM_003884.5(KAT2B):c.670-173G>A	noncoding	Benign
3	20101174	T	C	T20101174C	KAT2B	NM_003884.5(KAT2B):c.670-113T>C	noncoding	Benign
3	20101217	G	T	G20101217T	KAT2B	NM_003884.5(KAT2B):c.670-70G>T	noncoding	Benign
3	20101528	G	C	G20101528C	KAT2B	NM_003884.5(KAT2B):c.851+60G>C	noncoding	Benign
3	20111902	G	A	G20111902A	KAT2B	NM_003884.5(KAT2B):c.1043+115G>A	noncoding	Benign
3	20114665	A	T	A20114665T	KAT2B	NM_003884.5(KAT2B):c.1044-217A>T	noncoding	Benign
3	20114693	A	G	A20114693G	KAT2B	NM_003884.5(KAT2B):c.1044-189A>G	noncoding	Benign
3	20114810	T	C	T20114810C	KAT2B	NM_003884.5(KAT2B):c.1044-72T>C	noncoding	Benign
3	20119551	G	T	G20119551T	KAT2B	NM_003884.5(KAT2B):c.1151-47G>T	noncoding	Benign
3	20119604	A	G	A20119604G	KAT2B	NM_003884.5(KAT2B):c.1157A>G:p.Asn386Ser	coding	Benign
3	20122844	T	G	T20122844G	KAT2B	NM_003884.5(KAT2B):c.1413+40T>G	noncoding	Benign
3	20122989	G	A	G20122989A	KAT2B	NM_003884.5(KAT2B):c.1413+185G>A	noncoding	Benign
3	20125773	G	A	G20125773A	KAT2B	NM_003884.5(KAT2B):c.1414-132G>A	noncoding	Benign
3	20127296	A	G	A20127296G	KAT2B	NM_003884.5(KAT2B):c.1623-127A>G	noncoding	Benign
3	20127383	C	G	C20127383G	KAT2B	NM_003884.5(KAT2B):c.1623-40C>G	noncoding	Benign
3	20139992	A	T	A20139992T	KAT2B	NM_003884.5(KAT2B):c.1861-229A>T	noncoding	Benign
3	20140123	G	T	G20140123T	KAT2B	NM_003884.5(KAT2B):c.1861-98G>T	noncoding	Benign
3	20140184	T	C	T20140184C	KAT2B	NM_003884.5(KAT2B):c.1861-37T>C	noncoding	Benign
3	20140412	C	T	C20140412T	KAT2B	NM_003884.5(KAT2B):c.2004+48C>T	noncoding	Benign
3	20146516	C	T	C20146516T	KAT2B	NM_003884.5(KAT2B):c.2119+86C>T	noncoding	Benign
3	20146582	C	T	C20146582T	KAT2B	NM_003884.5(KAT2B):c.2119+152C>T	noncoding	Benign
3	20148086	G	A	G20148086A	KAT2B	NM_003884.5(KAT2B):c.2156+87G>A	noncoding	Benign
3	23918422	G	A	G23918422A	RPL15	NM_002948.5(RPL15):c.173-18G>A	noncoding	Benign
3	23918436	G	A	G23918436A	RPL15	NM_002948.5(RPL15):c.173-4G>A	noncoding	Benign
3	23918444	C	T	C23918444T	RPL15	NM_002948.5(RPL15):c.177C>T:p.Tyr59_Val60=	coding	Benign
3	23918478	C	T	C23918478T	RPL15	NM_002948.5(RPL15):c.211C>T:p.Arg71Ter	coding	Pathogenic
3	23919363	G	A	G23919363A	RPL15	NM_002948.5(RPL15):c.477G>A:p.Arg159_Glu160=	coding	Benign
3	23919726	G	A	G23919726A	RPL15	NM_002948.5(RPL15):c.*225G>A	coding	Benign
3	23921573	T	G	T23921573G	RPL15	NM_001253384.2(RPL15):c.361-25T>G	noncoding	Benign
3	23921574	T	G	T23921574G	RPL15	NM_001253384.2(RPL15):c.361-24T>G	noncoding	Benign
3	23921575	T	G	T23921575G	RPL15	NM_001253384.2(RPL15):c.361-23T>G	noncoding	Benign
3	24127822	A	T	A24127822T	THRB	NM_001354712.2(THRB):c.886-65T>A	noncoding	Benign
3	24128002	C	T	C24128002T	THRB	NM_001354712.2(THRB):c.886-245G>A	noncoding	Benign
3	24132995	T	C	T24132995C	THRB	NM_001354712.2(THRB):c.885+321A>G	noncoding	Benign
3	24133371	G	A	G24133371A	THRB	NM_001354712.2(THRB):c.830C>T:p.Thr277Ile	coding	Pathogenic
3	24143816	C	T	C24143816T	THRB	NM_001354712.2(THRB):c.533-110G>A	noncoding	Benign
3	24146858	A	G	A24146858G	THRB	NM_001354712.2(THRB):c.385-36T>C	noncoding	Benign
3	24228626	A	C	A24228626C	THRB	NM_001354712.2(THRB):c.22+312T>G	noncoding	Benign
3	24228934	A	T	A24228934T	THRB	NM_001354712.2(THRB):c.22+4T>A	noncoding	Benign/Likely_benign
3	24229242	C	G	C24229242G	THRB	NM_001354712.2(THRB):c.-42-241G>C	noncoding	Benign
3	24229243	G	T	G24229243T	THRB	NM_001354712.2(THRB):c.-42-242C>A	noncoding	Benign
3	24229305	A	G	A24229305G	THRB	NM_001354712.2(THRB):c.-42-304T>C	noncoding	Benign
3	25429095	C	T	C25429095T	RARB	NM_000965.5(RARB):c.157+207C>T	noncoding	Benign
3	25461005	C	T	C25461005T	RARB	NM_000965.5(RARB):c.158-188C>T	noncoding	Benign
3	25461360	G	A	G25461360A	RARB	NM_000965.5(RARB):c.306+19G>A	noncoding	Benign
3	25461378	T	G	T25461378G	RARB	NM_000965.5(RARB):c.306+37T>G	noncoding	Benign
3	25501080	G	A	G25501080A	RARB	NM_000965.5(RARB):c.307-102G>A	noncoding	Benign
3	25501097	A	G	A25501097G	RARB	NM_000965.5(RARB):c.307-85A>G	noncoding	Benign
3	25569661	A	G	A25569661G	RARB	NM_000965.5(RARB):c.449-97A>G	noncoding	Benign
3	25580590	G	C	G25580590C	RARB	NM_000965.5(RARB):c.654G>C:p.Trp218Cys	coding	Pathogenic
3	25593560	G	A	G25593560A	RARB	NM_000965.5(RARB):c.844G>A:p.Gly282Ser	coding	Pathogenic/Likely_pathogenic
3	25593636	A	C	A25593636C	RARB	NM_000965.5(RARB):c.920A>C:p.Asn307Thr	coding	Benign
3	25594422	A	C	A25594422C	RARB	NM_000965.5(RARB):c.992-98A>C	noncoding	Benign
3	25594853	A	C	A25594853C	RARB	NM_000965.5(RARB):c.1150+175A>C	noncoding	Benign
3	25596261	T	C	T25596261C	RARB	NM_000965.5(RARB):c.1151-159T>C	noncoding	Benign
3	25596419	G	C	G25596419C	RARB	NM_000965.5(RARB):c.1151-1G>C	noncoding	Pathogenic
3	25596479	C	T	C25596479T	RARB	NM_000965.5(RARB):c.1210C>T:p.Gln404Ter	coding	Pathogenic/Likely_pathogenic
3	25598337	T	A	T25598337A	TOP2B	NM_001330700.2(TOP2B):c.4851A>T:p.Glu1617Asp	coding	Benign
3	25598358	A	G	A25598358G	TOP2B	NM_001330700.2(TOP2B):c.4830T>C:p.Phe1610=	coding	Benign
3	25598473	G	A	G25598473A	TOP2B	NM_001330700.2(TOP2B):c.4715C>T:p.Pro1572Leu	coding	Benign
3	25599477	G	A	G25599477A	TOP2B	NM_001330700.2(TOP2B):c.4668C>T:p.Gly1556=	coding	Benign
3	25601202	G	T	G25601202T	TOP2B	NM_001330700.2(TOP2B):c.4513C>A:p.Pro1505Thr	coding	Benign
3	25604777	G	A	G25604777A	TOP2B	NM_001330700.2(TOP2B):c.4472C>T:p.Thr1491Met	coding	Benign
3	25606141	A	G	A25606141G	TOP2B	NM_001330700.2(TOP2B):c.4299-19T>C	noncoding	Benign
3	25607269	A	T	A25607269T	TOP2B	NM_001330700.2(TOP2B):c.4200T>A:p.Ser1400=	coding	Benign
3	25607374	G	A	G25607374A	TOP2B	NM_001330700.2(TOP2B):c.4095C>T:p.Ala1365=	coding	Benign
3	25607395	T	C	T25607395C	TOP2B	NM_001330700.2(TOP2B):c.4094-20A>G	noncoding	Benign
3	25609321	T	C	T25609321C	TOP2B	NM_001330700.2(TOP2B):c.3955A>G:p.Thr1319Ala	coding	Benign
3	25612504	G	T	G25612504T	TOP2B	NM_001330700.2(TOP2B):c.3786+11C>A	noncoding	Benign
3	25612507	T	C	T25612507C	TOP2B	NM_001330700.2(TOP2B):c.3786+8A>G	noncoding	Benign
3	25612557	A	G	A25612557G	TOP2B	NM_001330700.2(TOP2B):c.3744T>C:p.Ala1248=	coding	Benign
3	25618856	A	G	A25618856G	TOP2B	NM_001330700.2(TOP2B):c.3064-7T>C	noncoding	Benign
3	25619907	C	T	C25619907T	TOP2B	NM_001330700.2(TOP2B):c.3018G>A:p.Leu1006=	coding	Benign
3	25620668	A	G	A25620668G	TOP2B	NM_001330700.2(TOP2B):c.2862+14T>C	noncoding	Benign
3	25623656	A	G	A25623656G	TOP2B	NM_001330700.2(TOP2B):c.2586T>C:p.Tyr862=	coding	Benign
3	25624665	C	T	C25624665T	TOP2B	NM_001330700.2(TOP2B):c.2346+17G>A	noncoding	Benign
3	25624700	C	A	C25624700A	TOP2B	NM_001330700.2(TOP2B):c.2328G>T:p.Ser776=	coding	Benign
3	25626883	C	T	C25626883T	TOP2B	NM_001330700.2(TOP2B):c.2017-19G>A	noncoding	Benign
3	25627235	G	T	G25627235T	TOP2B	NM_001330700.2(TOP2B):c.1968C>A:p.Arg656=	coding	Benign
3	25627291	C	T	C25627291T	TOP2B	NM_001330700.2(TOP2B):c.1912G>A:p.Gly638Ser	coding	Pathogenic
3	25629104	G	A	G25629104A	TOP2B	NM_001330700.2(TOP2B):c.1731C>T:p.Phe577=	coding	Benign
3	25630297	C	T	C25630297T	TOP2B	NM_001330700.2(TOP2B):c.1563+15G>A	noncoding	Benign
3	25630369	G	A	G25630369A	TOP2B	NM_001330700.2(TOP2B):c.1506C>T:p.Tyr502=	coding	Benign
3	25630407	C	G	C25630407G	TOP2B	NM_001330700.2(TOP2B):c.1468G>C:p.Ala490Pro	coding	Pathogenic
3	25630412	G	A	G25630412A	TOP2B	NM_001330700.2(TOP2B):c.1463C>T:p.Ser488Leu	coding	Pathogenic
3	25630784	A	T	A25630784T	TOP2B	NM_001330700.2(TOP2B):c.1405+17T>A	noncoding	Benign
3	25630921	C	T	C25630921T	TOP2B	NM_001330700.2(TOP2B):c.1285G>A:p.Val429Ile	coding	Benign
3	25632600	C	A	C25632600A	TOP2B	NM_001330700.2(TOP2B):c.1129-17G>T	noncoding	Benign
3	25635978	C	T	C25635978T	TOP2B	NM_001330700.2(TOP2B):c.810G>A:p.Ser270=	coding	Benign
3	25638244	C	T	C25638244T	TOP2B	NM_001330700.2(TOP2B):c.462G>A:p.Glu154=	coding	Benign
3	25638247	T	C	T25638247C	TOP2B	NM_001330700.2(TOP2B):c.459A>G:p.Val153=	coding	Benign
3	25638262	T	C	T25638262C	TOP2B	NM_001330700.2(TOP2B):c.444A>G:p.Val148=	coding	Benign
3	25643761	A	G	A25643761G	TOP2B	NM_001330700.2(TOP2B):c.264T>C:p.Asp88=	coding	Benign
3	25664267	C	T	C25664267T	TOP2B	NM_001330700.2(TOP2B):c.31G>A:p.Ala11Thr	coding	Benign
3	25720032	G	A	G25720032A	NGLY1	NM_018297.4(NGLY1):c.1771C>T:p.Gln591Ter	coding	Pathogenic
3	25720055	C	T	C25720055T	NGLY1	NM_018297.4(NGLY1):c.1748G>A:p.Trp583Ter	coding	Pathogenic
3	25720206	G	T	G25720206T	NGLY1	NM_018297.4(NGLY1):c.1612-15C>A	noncoding	Benign
3	25720468	T	A	T25720468A	NGLY1	NM_018297.4(NGLY1):c.1612-277A>T	noncoding	Benign
3	25729193	C	T	C25729193T	NGLY1	NM_018297.4(NGLY1):c.1551G>A:p.Trp517Ter	coding	Pathogenic
3	25729270	G	A	G25729270A	NGLY1	NM_018297.4(NGLY1):c.1474C>T:p.Gln492Ter	coding	Pathogenic
3	25732106	T	G	T25732106G	NGLY1	NM_018297.4(NGLY1):c.1425+213A>C	noncoding	Benign
3	25732494	T	C	T25732494C	NGLY1	NM_018297.4(NGLY1):c.1261-11A>G	noncoding	Benign/Likely_benign
3	25733632	A	T	A25733632T	NGLY1	NM_018297.4(NGLY1):c.1260+240T>A	noncoding	Benign
3	25733762	T	C	T25733762C	NGLY1	NM_018297.4(NGLY1):c.1260+110A>G	noncoding	Benign
3	25733964	G	A	G25733964A	NGLY1	NM_018297.4(NGLY1):c.1168C>T:p.Arg390Ter	coding	Pathogenic
3	25736086	T	C	T25736086C	NGLY1	NM_018297.4(NGLY1):c.1067A>G:p.Glu356Gly	coding	Pathogenic
3	25736128	T	C	T25736128C	NGLY1	NM_018297.4(NGLY1):c.1025A>G:p.Tyr342Cys	coding	Pathogenic/Likely_pathogenic
3	25737319	T	G	T25737319G	NGLY1	NM_018297.4(NGLY1):c.1003+15A>C	noncoding	Benign/Likely_benign
3	25737338	G	T	G25737338T	NGLY1	NM_018297.4(NGLY1):c.999C>A:p.Tyr333Ter	coding	Pathogenic
3	25737551	T	C	T25737551C	NGLY1	NM_018297.4(NGLY1):c.882-96A>G	noncoding	Benign
3	25739609	A	C	A25739609C	NGLY1	NM_018297.4(NGLY1):c.849T>G:p.Cys283Trp	coding	Pathogenic
3	25739748	A	G	A25739748G	NGLY1	NM_018297.4(NGLY1):c.710T>C:p.Phe237Ser	coding	Pathogenic
3	25739901	T	A	T25739901A	NGLY1	NM_018297.4(NGLY1):c.659-102A>T	noncoding	Benign
3	25751185	G	A	G25751185A	NGLY1	NM_018297.4(NGLY1):c.571C>T:p.Gln191Ter	coding	Pathogenic
3	25763809	T	C	T25763809C	NGLY1	NM_018297.4(NGLY1):c.492+257A>G	noncoding	Benign
3	25763899	C	T	C25763899T	NGLY1	NM_018297.4(NGLY1):c.492+167G>A	noncoding	Benign
3	25764388	T	C	T25764388C	NGLY1	NM_018297.4(NGLY1):c.247-77A>G	noncoding	Benign
3	25778381	T	C	T25778381C	NGLY1	NM_018297.4(NGLY1):c.246+193A>G	noncoding	Benign
3	25783433	C	G	C25783433G	NGLY1	NM_018297.4(NGLY1):c.-43G>C	coding	Benign
3	25783542	C	T	C25783542T	NGLY1	NM_001145294.2(NGLY1):c.6-4854G>A	noncoding	Benign
3	25783812	T	G	T25783812G	NGLY1	NM_001145294.2(NGLY1):c.6-5124A>C	noncoding	Benign
3	25790103	A	C	A25790103C	NGLY1	NM_017897.3(OXSM):c.-76A>C	noncoding	Benign
3	27162561	G	A	G27162561A	NEK10	NM_001394966.1(NEK10):c.2869+140C>T	coding	Benign
3	27192007	C	A	C27192007A	NEK10	NM_001394966.1(NEK10):c.2505+22G>T	noncoding	Benign
3	27201554	G	C	G27201554C	NEK10	NM_001394966.1(NEK10):c.2247C>G:p.Val749=	coding	Benign
3	27256325	G	C	G27256325C	NEK10	NM_001394966.1(NEK10):c.2061C>G:p.Thr687=	coding	Benign
3	27284606	G	T	G27284606T	NEK10	NM_001394966.1(NEK10):c.2010C>A:p.Thr670=	coding	Benign
3	27284960	A	G	A27284960G	NEK10	NM_001394966.1(NEK10):c.1791T>C:p.Asn597=	coding	Benign
3	27290686	T	C	T27290686C	NEK10	NM_001394966.1(NEK10):c.1674A>G:p.Gly558=	coding	Benign
3	27291329	A	G	A27291329G	NEK10	NM_001394966.1(NEK10):c.1538T>C:p.Leu513Ser	coding	Benign
3	27352928	T	G	T27352928G	NEK10	NM_001394966.1(NEK10):c.-37-9A>C	noncoding	Benign
3	30605668	A	G	A30605668G	TGFBR2	NC_000003.11:g.30647160A>G	noncoding	Benign
3	30623179	A	G	A30623179G	TGFBR2	NM_003242.6(TGFBR2):c.94+16202A>G	noncoding	Benign/Likely_benign
3	30623222	G	A	G30623222A	TGFBR2	NM_003242.6(TGFBR2):c.94+16245G>A	coding	Benign/Likely_benign
3	30623276	A	C	A30623276C	TGFBR2	NM_003242.6(TGFBR2):c.94+16299A>C	noncoding	Benign
3	30641447	G	C	G30641447C	TGFBR2	NM_003242.6(TGFBR2):c.95-3300G>C	noncoding	Benign
3	30641455	T	C	T30641455C	TGFBR2	NM_003242.6(TGFBR2):c.95-3292T>C	noncoding	Benign
3	30641485	G	A	G30641485A	TGFBR2	NM_003242.6(TGFBR2):c.95-3262G>A	noncoding	Benign
3	30641542	C	G	C30641542G	TGFBR2	NM_003242.6(TGFBR2):c.95-3205C>G	noncoding	Benign
3	30641690	C	G	C30641690G	TGFBR2	NM_003242.6(TGFBR2):c.95-3057C>G	noncoding	Benign
3	30641709	A	G	A30641709G	TGFBR2	NM_003242.6(TGFBR2):c.95-3038A>G	noncoding	Benign
3	30643191	G	A	G30643191A	TGFBR2	NM_003242.6(TGFBR2):c.95-1556G>A	noncoding	Benign
3	30643415	C	T	C30643415T	TGFBR2	NM_003242.6(TGFBR2):c.95-1332C>T	noncoding	Benign
3	30644740	T	C	T30644740C	TGFBR2	NM_003242.6(TGFBR2):c.95-7T>C	noncoding	Benign/Likely_benign
3	30644932	A	C	A30644932C	TGFBR2	NM_003242.6(TGFBR2):c.263+17A>C	noncoding	Benign/Likely_benign
3	30645135	T	C	T30645135C	TGFBR2	NM_003242.6(TGFBR2):c.263+220T>C	noncoding	Benign
3	30645155	T	C	T30645155C	TGFBR2	NM_003242.6(TGFBR2):c.263+240T>C	noncoding	Benign
3	30672110	G	A	G30672110A	TGFBR2	NM_003242.6(TGFBR2):c.927G>A:p.Thr309_Ala310=	coding	Benign/Likely_benign
3	30672144	T	G	T30672144G	TGFBR2	NM_003242.6(TGFBR2):c.961T>G:p.Tyr321Asp	coding	Pathogenic
3	30672299	G	A	G30672299A	TGFBR2	NM_003242.6(TGFBR2):c.1116G>A:p.Lys372_Met373=	coding	Benign/Likely_benign
3	30672317	G	C	G30672317C	TGFBR2	NM_003242.6(TGFBR2):c.1134G>C:p.Arg378Ser	coding	Pathogenic/Likely_pathogenic
3	30672423	G	C	G30672423C	TGFBR2	NM_003242.6(TGFBR2):c.1240G>C:p.Ala414Pro	coding	Pathogenic/Likely_pathogenic
3	30672453	T	C	T30672453C	TGFBR2	NM_003242.6(TGFBR2):c.1254+16T>C	noncoding	Benign
3	30674151	T	A	T30674151A	TGFBR2	NM_003242.6(TGFBR2):c.1301T>A:p.Met434Lys	coding	Pathogenic
3	30674485	C	T	C30674485T	TGFBR2	NM_003242.6(TGFBR2):c.1396+239C>T	noncoding	Benign
3	30688476	C	T	C30688476T	TGFBR2	NM_003242.6(TGFBR2):c.1489C>T:p.Arg497Ter	coding	Pathogenic/Likely_pathogenic
3	30688747	C	T	C30688747T	TGFBR2	NM_003242.6(TGFBR2):c.1524+236C>T	noncoding	Benign
3	30691208	G	C	G30691208C	TGFBR2	NM_003242.6(TGFBR2):c.1525-212G>C	noncoding	Benign
3	30691453	T	C	T30691453C	TGFBR2	NM_003242.6(TGFBR2):c.1558T>C:p.Cys520Arg	coding	Pathogenic
3	30691456	T	C	T30691456C	TGFBR2	NM_003242.6(TGFBR2):c.1561T>C:p.Trp521Arg	coding	Pathogenic/Likely_pathogenic
3	30691505	G	C	G30691505C	TGFBR2	NM_003242.6(TGFBR2):c.1610G>C:p.Arg537Pro	coding	Pathogenic
3	30692457	C	T	C30692457T	TGFBR2	NM_003242.6(TGFBR2):c.*858C>T	noncoding	Benign/Likely_benign
3	30693432	A	C	A30693432C	TGFBR2	NM_003242.6(TGFBR2):c.*1833A>C	noncoding	Benign/Likely_benign
3	30694445	G	A	G30694445A	TGFBR2	NC_000003.11:g.30735937G>A	noncoding	Benign
3	31532326	C	T	C31532326T	STT3B	Single_allele	noncoding	Benign
3	31532402	G	T	G31532402T	STT3B	Single_allele	noncoding	Benign
3	31532766	A	C	A31532766C	STT3B	Single_allele	noncoding	Benign
3	31533036	C	G	C31533036G	STT3B	NM_178862.3(STT3B):c.38C>G:p.Ser13Trp	coding	Pathogenic
3	31533564	A	G	A31533564G	STT3B	NM_178862.3(STT3B):c.314+252A>G	noncoding	Benign
3	31576204	G	T	G31576204T	STT3B	NM_178862.3(STT3B):c.315-192G>T	noncoding	Benign
3	31576233	G	A	G31576233A	STT3B	NM_178862.3(STT3B):c.315-163G>A	noncoding	Benign
3	31579522	A	G	A31579522G	STT3B	NM_178862.3(STT3B):c.424-287A>G	noncoding	Benign
3	31596902	G	C	G31596902C	STT3B	NM_178862.3(STT3B):c.777+39G>C	noncoding	Benign
3	31600545	A	T	A31600545T	STT3B	NM_178862.3(STT3B):c.877+86A>T	noncoding	Benign
3	31618003	A	G	A31618003G	STT3B	NM_178862.3(STT3B):c.1172+15A>G	noncoding	Benign/Likely_benign
3	31618262	T	C	T31618262C	STT3B	NM_178862.3(STT3B):c.1172+274T>C	noncoding	Benign
3	31619851	A	C	A31619851C	STT3B	NM_178862.3(STT3B):c.1327+21A>C	noncoding	Benign
3	31625799	A	G	A31625799G	STT3B	NM_178862.3(STT3B):c.1900-155A>G	noncoding	Benign
3	31632670	T	G	T31632670G	STT3B	NM_178862.3(STT3B):c.2188-265T>G	noncoding	Benign
3	31633276	G	A	G31633276A	STT3B	NM_178862.3(STT3B):c.2400+129G>A	noncoding	Benign
3	31635903	T	G	T31635903G	STT3B	NM_178862.3(STT3B):c.2401-81T>G	noncoding	Benign
3	31635940	A	G	A31635940G	STT3B	NM_178862.3(STT3B):c.2401-44A>G	noncoding	Benign
3	31635967	G	T	G31635967T	STT3B	NM_178862.3(STT3B):c.2401-17G>T	noncoding	Benign/Likely_benign
3	32106298	G	A	G32106298A	GPD1L	Single_allele	noncoding	Benign
3	32106593	C	T	C32106593T	GPD1L	NM_015141.3(GPD1L):c.-119C>T	noncoding	Benign
3	32128139	A	C	A32128139C	GPD1L	NM_015141.4(GPD1L):c.111A>C:p.Thr37=	coding	Benign/Likely_benign
3	32138473	G	T	G32138473T	GPD1L	NM_015141.4(GPD1L):c.226-114G>T	noncoding	Benign
3	32139957	G	C	G32139957C	GPD1L	NM_015141.4(GPD1L):c.367-271G>C	noncoding	Benign
3	32140217	C	A	C32140217A	GPD1L	NM_015141.4(GPD1L):c.367-11C>A	noncoding	Benign
3	32140218	A	T	A32140218T	GPD1L	NM_015141.3(GPD1L):c.367-10A>T	noncoding	Benign
3	32147008	G	A	G32147008A	GPD1L	NM_015141.4(GPD1L):c.618+274G>A	noncoding	Benign
3	32158652	C	A	C32158652A	GPD1L	NM_015141.4(GPD1L):c.619-224C>A	noncoding	Benign
3	32158864	T	C	T32158864C	GPD1L	NM_015141.4(GPD1L):c.619-12T>C	noncoding	Benign
3	32159129	C	T	C32159129T	GPD1L	NM_015141.4(GPD1L):c.852+20C>T	noncoding	Benign/Likely_benign
3	32159479	A	G	A32159479G	GPD1L	NM_015141.4(GPD1L):c.853-89A>G	noncoding	Benign
3	32159480	A	G	A32159480G	GPD1L	NM_015141.4(GPD1L):c.853-88A>G	noncoding	Benign
3	32159481	G	A	G32159481A	GPD1L	NM_015141.4(GPD1L):c.853-87G>A	noncoding	Benign
3	32159591	G	A	G32159591A	GPD1L	NM_015141.4(GPD1L):c.876G>A:p.Glu292=	coding	Benign/Likely_benign
3	32159672	C	T	C32159672T	GPD1L	NM_015141.4(GPD1L):c.957C>T:p.Asp319=	coding	Benign
3	32159690	G	A	G32159690A	GPD1L	NM_015141.4(GPD1L):c.959+16G>A	noncoding	Benign
3	32165850	C	T	C32165850T	GPD1L	NM_015141.4(GPD1L):c.996C>T:p.Tyr332=	coding	Benign/Likely_benign
3	32165892	C	T	C32165892T	GPD1L	NM_015141.4(GPD1L):c.1038C>T:p.Ser346=	coding	Benign/Likely_benign
3	32165928	G	T	G32165928T	GPD1L	NM_015141.4(GPD1L):c.*18G>T	noncoding	Benign
3	32165970	C	T	C32165970T	GPD1L	NM_015141.3(GPD1L):c.*60C>T	noncoding	Benign
3	32166114	A	G	A32166114G	GPD1L	NM_015141.3(GPD1L):c.*204A>G	noncoding	Benign
3	32997310	C	T	C32997310T	GLB1	NM_000404.4(GLB1):c.1769G>A:p.Arg590His	coding	Pathogenic/Likely_pathogenic
3	32997333	C	T	C32997333T	GLB1	NM_000404.4(GLB1):c.1746G>A:p.Trp582Ter	coding	Pathogenic/Likely_pathogenic
3	33013823	G	A	G33013823A	GLB1	NM_000404.4(GLB1):c.1734+233C>T	noncoding	Benign
3	33013868	G	A	G33013868A	GLB1	NM_000404.4(GLB1):c.1734+188C>T	noncoding	Benign
3	33014091	G	A	G33014091A	GLB1	NM_000404.4(GLB1):c.1699C>T:p.Gln567Ter	coding	Pathogenic
3	33014093	G	T	G33014093T	GLB1	NM_000404.4(GLB1):c.1697C>A:p.Pro566His	coding	Pathogenic
3	33014173	C	T	C33014173T	GLB1	NM_000404.4(GLB1):c.1617G>A:p.Trp539Ter	coding	Pathogenic
3	33014174	C	T	C33014174T	GLB1	NM_000404.4(GLB1):c.1616G>A:p.Trp539Ter	coding	Pathogenic
3	33014210	C	T	C33014210T	GLB1	NM_000404.4(GLB1):c.1580G>A:p.Trp527Ter	coding	Pathogenic
3	33014384	G	C	G33014384C	GLB1	NM_000404.4(GLB1):c.1480-74C>G	noncoding	Benign
3	33014459	A	G	A33014459G	GLB1	NM_000404.4(GLB1):c.1480-149T>C	noncoding	Benign
3	33014582	A	G	A33014582G	GLB1	NM_000404.4(GLB1):c.1480-272T>C	noncoding	Benign
3	33014630	G	T	G33014630T	GLB1	NM_000404.4(GLB1):c.1480-320C>A	noncoding	Benign
3	33016746	C	T	C33016746T	GLB1	NM_000404.4(GLB1):c.1442G>A:p.Gly481Glu	coding	Pathogenic
3	33018471	G	A	G33018471A	GLB1	NM_000404.4(GLB1):c.1324C>T:p.Arg442Ter	coding	Pathogenic
3	33018519	A	C	A33018519C	GLB1	NM_000404.4(GLB1):c.1276T>G:p.Cys426Gly	coding	Pathogenic
3	33018537	T	G	T33018537G	GLB1	NM_000404.4(GLB1):c.1258A>C:p.Thr420Pro	coding	Pathogenic
3	33018578	T	A	T33018578A	GLB1	NM_000404.4(GLB1):c.1234-17A>T	noncoding	Benign
3	33018738	G	A	G33018738A	GLB1	NM_000404.4(GLB1):c.1234-177C>T	noncoding	Benign
3	33021348	G	A	G33021348A	GLB1	NM_000404.4(GLB1):c.1233+218C>T	noncoding	Benign
3	33021392	C	A	C33021392A	GLB1	NM_000404.4(GLB1):c.1233+174G>T	noncoding	Benign
3	33021565	C	T	C33021565T	GLB1	NM_000404.4(GLB1):c.1233+1G>A	noncoding	Pathogenic/Likely_pathogenic
3	33021607	T	C	T33021607C	GLB1	NM_000404.4(GLB1):c.1192A>G:p.Ile398Val	coding	Benign
3	33021911	G	C	G33021911C	GLB1	NM_000404.4(GLB1):c.1144-256C>G	noncoding	Benign
3	33024556	C	T	C33024556T	GLB1	NM_000404.4(GLB1):c.1069-231G>A	noncoding	Benign
3	33046150	C	A	C33046150A	GLB1	NM_000404.4(GLB1):c.1038G>T:p.Lys346Asn	coding	Pathogenic/Likely_pathogenic
3	33046178	A	G	A33046178G	GLB1	NM_000404.4(GLB1):c.1010T>C:p.Leu337Pro	coding	Pathogenic/Likely_pathogenic
3	33046194	C	T	C33046194T	GLB1	NM_000404.4(GLB1):c.994G>A:p.Asp332Asn	coding	Pathogenic
3	33046350	C	G	C33046350G	GLB1	NM_000404.4(GLB1):c.956-118G>C	noncoding	Benign
3	33046422	G	C	G33046422C	GLB1	NM_000404.4(GLB1):c.956-190C>G	noncoding	Benign
3	33051614	A	G	A33051614G	GLB1	NM_000404.4(GLB1):c.955+144T>C	noncoding	Benign
3	33052189	G	C	G33052189C	GLB1	NM_000404.4(GLB1):c.793-185C>G	noncoding	Benign
3	33053241	C	G	C33053241G	GLB1	NM_000404.4(GLB1):c.792+250G>C	noncoding	Benign
3	33053260	C	T	C33053260T	GLB1	NM_000404.4(GLB1):c.792+231G>A	noncoding	Benign
3	33053473	C	T	C33053473T	GLB1	NM_000404.4(GLB1):c.792+18G>A	noncoding	Benign
3	33053629	C	T	C33053629T	GLB1	NM_000404.4(GLB1):c.734-80G>A	noncoding	Benign/Likely_benign
3	33053648	C	A	C33053648A	GLB1	NM_000404.4(GLB1):c.734-99G>T	noncoding	Benign
3	33053661	A	G	A33053661G	GLB1	NM_000404.4(GLB1):c.734-112T>C	noncoding	Benign
3	33058011	T	C	T33058011C	GLB1	NM_000404.4(GLB1):c.733+78A>G	noncoding	Benign/Likely_benign
3	33058253	C	T	C33058253T	GLB1	NM_000404.4(GLB1):c.569G>A:p.Gly190Asp	coding	Pathogenic/Likely_pathogenic
3	33068236	C	A	C33068236A	GLB1	NM_000404.4(GLB1):c.451G>T:p.Asp151Tyr	coding	Pathogenic
3	33068263	T	A	T33068263A	GLB1	NM_000404.4(GLB1):c.424A>T:p.Lys142Ter	coding	Pathogenic
3	33068290	C	A	C33068290A	GLB1	NM_000404.4(GLB1):c.397G>T:p.Gly133Ter	coding	Pathogenic
3	33068826	C	T	C33068826T	GLB1	NM_000404.4(GLB1):c.390G>A:p.Trp130Ter	coding	Pathogenic
3	33068950	T	A	T33068950A	GLB1	NM_000404.4(GLB1):c.266A>T:p.His89Leu	coding	Pathogenic
3	33068959	C	T	C33068959T	GLB1	NM_000404.4(GLB1):c.257G>A:p.Trp86Ter	coding	Pathogenic
3	33068972	T	C	T33068972C	GLB1	NM_000404.4(GLB1):c.246-2A>G	noncoding	Pathogenic
3	33072640	T	C	T33072640C	GLB1	NM_000404.4(GLB1):c.149A>G:p.Tyr50Cys	coding	Pathogenic
3	33097009	A	C	A33097009C	GLB1	NM_000404.4(GLB1):c.75+2T>G	noncoding	Pathogenic
3	33097271	C	A	C33097271A	GLB1	Single_allele	noncoding	Benign
3	33097272	G	C	G33097272C	GLB1	Single_allele	noncoding	Benign
3	33097285	A	G	A33097285G	GLB1	Single_allele	noncoding	Benign
3	33113772	T	G	T33113772G	CRTAP	Single_allele	noncoding	Benign
3	33114244	G	A	G33114244A	CRTAP	NM_006371.5(CRTAP):c.167G>A:p.Ser56Asn	coding	Benign
3	33114249	G	T	G33114249T	CRTAP	NM_006371.5(CRTAP):c.172G>T:p.Glu58Ter	coding	Pathogenic
3	33114547	A	G	A33114547G	CRTAP	NM_006371.5(CRTAP):c.470A>G:p.Lys157Arg	coding	Pathogenic
3	33114843	A	G	A33114843G	CRTAP	NM_006371.5(CRTAP):c.471+295A>G	noncoding	Benign
3	33119323	C	G	C33119323G	CRTAP	NM_006371.5(CRTAP):c.472-1021C>G	noncoding	Pathogenic
3	33119661	A	C	A33119661C	CRTAP	NM_006371.5(CRTAP):c.472-683A>C	noncoding	Benign
3	33120208	C	A	C33120208A	CRTAP	NM_006371.5(CRTAP):c.472-136C>A	noncoding	Benign
3	33120237	A	G	A33120237G	CRTAP	NM_006371.5(CRTAP):c.472-107A>G	noncoding	Benign
3	33120253	A	G	A33120253G	CRTAP	NM_006371.5(CRTAP):c.472-91A>G	noncoding	Benign
3	33120757	A	C	A33120757C	CRTAP	NM_006371.5(CRTAP):c.621+264A>C	noncoding	Benign
3	33124864	T	C	T33124864C	CRTAP	NM_006371.5(CRTAP):c.793+285T>C	noncoding	Benign
3	36992955	G	C	G36992955C	MLH1	NM_014805.4(EPM2AIP1):c.123C>G:p.Val41=	coding	Benign
3	36993616	A	G	A36993616G	MLH1	NM_000249.4(MLH1):c.69A>G:p.Glu23=	coding	Benign/Likely_benign
3	36993665	T	C	T36993665C	MLH1	NM_000249.4(MLH1):c.116+2T>C	noncoding	Pathogenic
3	36993665	T	G	T36993665G	MLH1	NM_000249.4(MLH1):c.116+2T>G	noncoding	Pathogenic
3	36996621	T	G	T36996621G	MLH1	NM_000249.4(MLH1):c.119T>G:p.Leu40Ter	coding	Pathogenic
3	36996656	A	T	A36996656T	MLH1	NM_000249.4(MLH1):c.154A>T:p.Lys52Ter	coding	Pathogenic
3	36996659	G	T	G36996659T	MLH1	NM_000249.4(MLH1):c.157G>T:p.Glu53Ter	coding	Pathogenic
3	36996671	A	T	A36996671T	MLH1	NM_000249.4(MLH1):c.169A>T:p.Lys57Ter	coding	Pathogenic
3	36996710	G	C	G36996710C	MLH1	NM_000249.4(MLH1):c.207+1G>C	coding	Pathogenic
3	37000952	C	A	C37000952A	MLH1	NM_000249.4(MLH1):c.208-3C>A	noncoding	Pathogenic
3	37000997	A	T	A37000997T	MLH1	NM_000249.4(MLH1):c.250A>T:p.Lys84Ter	coding	Pathogenic
3	37001051	G	T	G37001051T	MLH1	NM_000249.4(MLH1):c.304G>T:p.Glu102Ter	coding	Pathogenic
3	37001070	A	G	A37001070G	MLH1	NM_000249.4(MLH1):c.306+17A>G	noncoding	Benign/Likely_benign
3	37001266	T	C	T37001266C	MLH1	NM_000249.4(MLH1):c.306+213T>C	noncoding	Benign
3	37002888	C	G	C37002888G	MLH1	NM_000249.4(MLH1):c.307-1513C>G	noncoding	Benign
3	37007016	A	T	A37007016T	MLH1	NM_000249.4(MLH1):c.406A>T:p.Lys136Ter	coding	Pathogenic
3	37007033	A	G	A37007033G	MLH1	NM_000249.4(MLH1):c.423A>G:p.Pro141=	coding	Benign/Likely_benign
3	37007607	T	C	T37007607C	MLH1	NM_000249.4(MLH1):c.453+544T>C	noncoding	Benign
3	37007718	G	A	G37007718A	MLH1	NM_000249.4(MLH1):c.453+655G>A	noncoding	Benign
3	37008817	G	T	G37008817T	MLH1	NM_000249.4(MLH1):c.457G>T:p.Glu153Ter	coding	Pathogenic
3	37008831	C	A	C37008831A	MLH1	NM_000249.4(MLH1):c.471C>A:p.Tyr157Ter	coding	Pathogenic
3	37008847	A	T	A37008847T	MLH1	NM_000249.4(MLH1):c.487A>T:p.Arg163Ter	coding	Pathogenic
3	37011745	A	C	A37011745C	MLH1	NM_000249.4(MLH1):c.546-75A>C	noncoding	Benign
3	37011823	T	G	T37011823G	MLH1	NM_000249.4(MLH1):c.549T>G:p.Tyr183Ter	coding	Pathogenic
3	37011864	T	G	T37011864G	MLH1	NM_000249.4(MLH1):c.588+2T>G	noncoding	Pathogenic/Likely_pathogenic
3	37011881	G	T	G37011881T	MLH1	NM_000249.4(MLH1):c.588+19G>T	noncoding	Benign
3	37012014	G	T	G37012014T	MLH1	NM_000249.4(MLH1):c.592G>T:p.Gly198Ter	coding	Pathogenic
3	37012054	C	A	C37012054A	MLH1	NM_000249.4(MLH1):c.632C>A:p.Ser211Ter	coding	Pathogenic
3	37012054	C	G	C37012054G	MLH1	NM_000249.4(MLH1):c.632C>G:p.Ser211Ter	coding	Pathogenic
3	37012101	T	G	T37012101G	MLH1	NM_000249.4(MLH1):c.677+2T>G	noncoding	Pathogenic/Likely_pathogenic
3	37014433	G	T	G37014433T	MLH1	NM_000249.4(MLH1):c.679G>T:p.Glu227Ter	coding	Pathogenic
3	37014454	G	T	G37014454T	MLH1	NM_000249.4(MLH1):c.700G>T:p.Glu234Ter	coding	Pathogenic
3	37014460	A	T	A37014460T	MLH1	NM_000249.4(MLH1):c.706A>T:p.Lys236Ter	coding	Pathogenic
3	37014516	G	A	G37014516A	MLH1	NM_000249.4(MLH1):c.762G>A:p.Lys254=	coding	Benign/Likely_benign
3	37014517	A	T	A37014517T	MLH1	NM_000249.4(MLH1):c.763A>T:p.Lys255Ter	coding	Pathogenic
3	37014530	T	A	T37014530A	MLH1	NM_000249.4(MLH1):c.776T>A:p.Leu259Ter	coding	Pathogenic
3	37014564	A	G	A37014564G	MLH1	NM_000249.4(MLH1):c.790+20A>G	noncoding	Benign/Likely_benign
3	37017517	G	T	G37017517T	MLH1	NM_000249.4(MLH1):c.802G>T:p.Glu268Ter	coding	Pathogenic
3	37017532	A	T	A37017532T	MLH1	NM_000249.4(MLH1):c.817A>T:p.Arg273Ter	coding	Pathogenic
3	37017544	G	T	G37017544T	MLH1	NM_000249.4(MLH1):c.829G>T:p.Glu277Ter	coding	Pathogenic
3	37017564	T	G	T37017564G	MLH1	NM_000249.4(MLH1):c.849T>G:p.Tyr283Ter	coding	Pathogenic
3	37017600	G	A	G37017600A	MLH1	NM_000249.4(MLH1):c.884+1G>A	coding	Pathogenic/Likely_pathogenic
3	37017609	C	T	C37017609T	MLH1	NM_000249.4(MLH1):c.884+10C>T	noncoding	Benign/Likely_benign
3	37020352	C	T	C37020352T	MLH1	NM_000249.4(MLH1):c.927C>T:p.Pro309=	coding	Benign/Likely_benign
3	37020394	G	C	G37020394C	MLH1	NM_000249.4(MLH1):c.969G>C:p.Leu323=	coding	Benign/Likely_benign
3	37020416	G	T	G37020416T	MLH1	NM_000249.4(MLH1):c.991G>T:p.Glu331Ter	coding	Pathogenic
3	37020454	C	T	C37020454T	MLH1	NM_000249.4(MLH1):c.1029C>T:p.Tyr343=	coding	Benign/Likely_benign
3	37020717	G	A	G37020717A	MLH1	NM_000249.4(MLH1):c.1038+254G>A	noncoding	Benign
3	37024878	T	C	T37024878C	MLH1	NM_000249.4(MLH1):c.1039-759T>C	noncoding	Benign
3	37024882	T	A	T37024882A	MLH1	NM_000249.4(MLH1):c.1039-755T>A	noncoding	Benign
3	37025606	A	T	A37025606T	MLH1	NM_000249.4(MLH1):c.1039-31A>T	noncoding	Benign/Likely_benign
3	37025632	T	C	T37025632C	MLH1	NM_000249.4(MLH1):c.1039-5T>C	noncoding	Benign/Likely_benign
3	37025670	G	T	G37025670T	MLH1	NM_000249.4(MLH1):c.1072G>T:p.Glu358Ter	coding	Pathogenic
3	37025672	G	A	G37025672A	MLH1	NM_000249.4(MLH1):c.1074G>A:p.Glu358=	coding	Benign/Likely_benign
3	37025701	C	A	C37025701A	MLH1	NM_000249.4(MLH1):c.1103C>A:p.Ser368Ter	coding	Pathogenic
3	37025715	G	T	G37025715T	MLH1	NM_000249.4(MLH1):c.1117G>T:p.Gly373Ter	coding	Pathogenic
3	37025727	A	T	A37025727T	MLH1	NM_000249.4(MLH1):c.1129A>T:p.Lys377Ter	coding	Pathogenic
3	37025742	C	T	C37025742T	MLH1	NM_000249.4(MLH1):c.1144C>T:p.Gln382Ter	coding	Pathogenic
3	37025789	G	A	G37025789A	MLH1	NM_000249.4(MLH1):c.1191G>A:p.Leu397=	coding	Benign/Likely_benign
3	37025882	T	C	T37025882C	MLH1	NM_000249.4(MLH1):c.1284T>C:p.Asp428=	coding	Benign/Likely_benign
3	37025883	G	T	G37025883T	MLH1	NM_000249.4(MLH1):c.1285G>T:p.Glu429Ter	coding	Pathogenic
3	37025886	G	T	G37025886T	MLH1	NM_000249.4(MLH1):c.1288G>T:p.Glu430Ter	coding	Pathogenic
3	37025938	T	A	T37025938A	MLH1	NM_000249.4(MLH1):c.1340T>A:p.Leu447Ter	coding	Pathogenic
3	37025957	G	A	G37025957A	MLH1	NM_000249.4(MLH1):c.1359G>A:p.Lys453=	coding	Benign/Likely_benign
3	37025965	C	A	C37025965A	MLH1	NM_000249.4(MLH1):c.1367C>A:p.Ser456Ter	coding	Pathogenic
3	37025965	C	G	C37025965G	MLH1	NM_000249.4(MLH1):c.1367C>G:p.Ser456Ter	coding	Pathogenic
3	37025976	G	T	G37025976T	MLH1	NM_000249.4(MLH1):c.1378G>T:p.Glu460Ter	coding	Pathogenic/Likely_pathogenic
3	37026006	A	T	A37026006T	MLH1	NM_000249.4(MLH1):c.1408A>T:p.Arg470Ter	coding	Pathogenic
3	37028615	C	T	C37028615T	MLH1	NM_000249.4(MLH1):c.1410-169C>T	noncoding	Benign
3	37028788	A	T	A37028788T	MLH1	NM_000249.4(MLH1):c.1414A>T:p.Arg472Ter	coding	Pathogenic
3	37028826	T	C	T37028826C	MLH1	NM_000249.4(MLH1):c.1452T>C:p.Asp484=	coding	Benign/Likely_benign
3	37028856	T	A	T37028856A	MLH1	NM_000249.4(MLH1):c.1482T>A:p.Cys494Ter	coding	Pathogenic
3	37028894	T	A	T37028894A	MLH1	NM_000249.4(MLH1):c.1520T>A:p.Leu507Ter	coding	Pathogenic
3	37040291	T	G	T37040291G	MLH1	NM_000249.4(MLH1):c.1664T>G:p.Leu555Arg	coding	Pathogenic/Likely_pathogenic
3	37040301	C	T	C37040301T	MLH1	NM_000249.4(MLH1):c.1667+7C>T	noncoding	Pathogenic
3	37040302	A	T	A37040302T	MLH1	NM_000249.4(MLH1):c.1667+8A>T	noncoding	Pathogenic
3	37042266	A	C	A37042266C	MLH1	NM_000249.4(MLH1):c.1668-2A>C	noncoding	Pathogenic/Likely_pathogenic
3	37042266	A	G	A37042266G	MLH1	NM_000249.4(MLH1):c.1668-2A>G	noncoding	Pathogenic/Likely_pathogenic
3	37042267	G	C	G37042267C	MLH1	NM_000249.4(MLH1):c.1668-1G>C	noncoding	Pathogenic
3	37042327	T	A	T37042327A	MLH1	NM_000249.4(MLH1):c.1727T>A:p.Leu576Ter	coding	Pathogenic
3	37042327	T	G	T37042327G	MLH1	NM_000249.4(MLH1):c.1727T>G:p.Leu576Ter	coding	Pathogenic
3	37042330	C	A	C37042330A	MLH1	NM_000249.4(MLH1):c.1730C>A:p.Ser577Ter	coding	Pathogenic
3	37047600	G	T	G37047600T	MLH1	NM_000249.4(MLH1):c.1813G>T:p.Glu605Ter	coding	Pathogenic
3	37047617	C	A	C37047617A	MLH1	NM_000249.4(MLH1):c.1830C>A:p.Tyr610Ter	coding	Pathogenic
3	37047617	C	G	C37047617G	MLH1	NM_000249.4(MLH1):c.1830C>G:p.Tyr610Ter	coding	Pathogenic
3	37047624	G	T	G37047624T	MLH1	NM_000249.4(MLH1):c.1837G>T:p.Glu613Ter	coding	Pathogenic
3	37047681	G	T	G37047681T	MLH1	NM_000249.4(MLH1):c.1894G>T:p.Glu632Ter	coding	Pathogenic
3	37047684	G	C	G37047684C	MLH1	NM_000249.4(MLH1):c.1896+1G>C	coding	Pathogenic
3	37048220	T	C	T37048220C	MLH1	NM_000249.4(MLH1):c.1897-297T>C	noncoding	Benign
3	37048558	T	G	T37048558G	MLH1	NM_000249.4(MLH1):c.1938T>G:p.Tyr646Ter	coding	Pathogenic
3	37048574	G	T	G37048574T	MLH1	NM_000249.4(MLH1):c.1954G>T:p.Gly652Ter	coding	Pathogenic
3	37048598	C	T	C37048598T	MLH1	NM_000249.4(MLH1):c.1978C>T:p.Leu660=	coding	Benign/Likely_benign
3	37048607	G	T	G37048607T	MLH1	NM_000249.4(MLH1):c.1987G>T:p.Glu663Ter	coding	Pathogenic
3	37048916	G	T	G37048916T	MLH1	NM_000249.4(MLH1):c.2002G>T:p.Glu668Ter	coding	Pathogenic
3	37048919	G	T	G37048919T	MLH1	NM_000249.4(MLH1):c.2005G>T:p.Glu669Ter	coding	Pathogenic
3	37048927	A	G	A37048927G	MLH1	NM_000249.4(MLH1):c.2013A>G:p.Glu671=	coding	Benign/Likely_benign
3	37048966	T	G	T37048966G	MLH1	NM_000249.4(MLH1):c.2052T>G:p.Tyr684Ter	coding	Pathogenic
3	37048976	A	T	A37048976T	MLH1	NM_000249.4(MLH1):c.2062A>T:p.Lys688Ter	coding	Pathogenic
3	37048991	G	T	G37048991T	MLH1	NM_000249.4(MLH1):c.2077G>T:p.Glu693Ter	coding	Pathogenic
3	37048994	G	T	G37048994T	MLH1	NM_000249.4(MLH1):c.2080G>T:p.Glu694Ter	coding	Pathogenic
3	37048999	G	A	G37048999A	MLH1	NM_000249.4(MLH1):c.2085G>A:p.Ser695=	coding	Benign/Likely_benign
3	37050203	A	G	A37050203G	MLH1	NM_000249.4(MLH1):c.2104-283A>G	noncoding	Benign
3	37050546	A	T	A37050546T	MLH1	NM_000249.4(MLH1):c.2164A>T:p.Lys722Ter	coding	Pathogenic
3	37050559	C	A	C37050559A	MLH1	NM_000249.4(MLH1):c.2177C>A:p.Ser726Ter	coding	Pathogenic
3	37050559	C	G	C37050559G	MLH1	NM_000249.4(MLH1):c.2177C>G:p.Ser726Ter	coding	Pathogenic/Likely_pathogenic
3	37050617	C	T	C37050617T	MLH1	NM_000249.4(MLH1):c.2235C>T:p.Asn745=	coding	Benign/Likely_benign
3	38008622	G	A	G38008622A	PLCD1	NM_006225.4(PLCD1):c.1738C>T:p.Gln580Ter	coding	Pathogenic
3	38008668	G	A	G38008668A	PLCD1	NM_006225.4(PLCD1):c.1724-32C>T	noncoding	Benign
3	38008822	G	C	G38008822C	PLCD1	NM_006225.4(PLCD1):c.1724-186C>G	noncoding	Benign
3	38009200	G	A	G38009200A	PLCD1	NM_006225.4(PLCD1):c.1607-42C>T	noncoding	Benign
3	38010450	T	C	T38010450C	PLCD1	NM_006225.4(PLCD1):c.903A>G:p.Pro301=	coding	Benign
3	38011122	G	C	G38011122C	PLCD1	NM_006225.4(PLCD1):c.790+92C>G	noncoding	Benign
3	38011234	C	T	C38011234T	PLCD1	NM_006225.4(PLCD1):c.770G>A:p.Arg257His	coding	Benign
3	38011313	C	T	C38011313T	PLCD1	NM_006225.4(PLCD1):c.691G>A:p.Asp231Asn	coding	Benign
3	38011715	T	C	T38011715C	PLCD1	NM_006225.4(PLCD1):c.429-42A>G	noncoding	Benign
3	38016407	A	G	A38016407G	PLCD1	NM_006225.4(PLCD1):c.428+84T>C	noncoding	Benign
3	38016553	C	T	C38016553T	PLCD1	NM_006225.4(PLCD1):c.366G>A:p.Val122=	coding	Benign
3	38016750	G	C	G38016750C	PLCD1	NM_006225.4(PLCD1):c.200-31C>G	noncoding	Benign
3	38016894	G	T	G38016894T	PLCD1	NM_006225.4(PLCD1):c.200-175C>A	noncoding	Benign
3	38016976	A	G	A38016976G	PLCD1	NM_006225.4(PLCD1):c.200-257T>C	noncoding	Benign
3	38016993	G	C	G38016993C	PLCD1	NM_006225.4(PLCD1):c.200-274C>G	noncoding	Benign
3	38020049	A	G	A38020049G	PLCD1	NM_006225.4(PLCD1):c.199+139T>C	noncoding	Benign
3	38020257	A	G	A38020257G	PLCD1	NM_006225.4(PLCD1):c.130T>C:p.Leu44=	coding	Benign
3	38029249	T	A	T38029249A	PLCD1	NM_006225.4(PLCD1):c.34+257A>T	noncoding	Benign
3	38029646	C	T	C38029646T	PLCD1	Single_allele	noncoding	Benign
3	38129319	C	G	C38129319G	ACAA1	NM_001607.4(ACAA1):c.516G>C:p.Glu172Asp	coding	Benign
3	38138857	G	T	G38138857T	MYD88	NM_002468.5(MYD88):c.157G>T:p.Glu53Ter	coding	Pathogenic
3	38139039	C	T	C38139039T	MYD88	NM_002468.5(MYD88):c.328+11C>T	noncoding	Benign
3	38316326	C	T	C38316326T	SLC22A14	NM_001320033.2(SLC22A14):c.1535C>T:p.Ala512Val	coding	Benign
3	38454574	C	T	C38454574T	ACVR2B	NM_001106.4(ACVR2B):c.52+200C>T	coding	Benign
3	38477984	G	A	G38477984A	ACVR2B	NM_001106.4(ACVR2B):c.370+14G>A	noncoding	Benign
3	38479232	C	T	C38479232T	ACVR2B	NM_001106.4(ACVR2B):c.771C>T:p.Leu257=	coding	Benign
3	38479510	C	T	C38479510T	ACVR2B	NM_001106.4(ACVR2B):c.811-168C>T	noncoding	Benign
3	38479605	C	T	C38479605T	ACVR2B	NM_001106.4(ACVR2B):c.811-73C>T	noncoding	Benign
3	38479934	C	T	C38479934T	ACVR2B	NM_001106.4(ACVR2B):c.959+108C>T	noncoding	Benign
3	38481279	T	C	T38481279C	ACVR2B	NM_001106.4(ACVR2B):c.960-72T>C	noncoding	Benign
3	38482004	G	T	G38482004T	ACVR2B	NM_001106.4(ACVR2B):c.1075-194G>T	noncoding	Benign
3	38482595	G	A	G38482595A	ACVR2B	NM_001106.4(ACVR2B):c.1344+35G>A	noncoding	Benign
3	38482703	G	C	G38482703C	ACVR2B	NM_001106.4(ACVR2B):c.1344+143G>C	noncoding	Benign
3	38482820	A	G	A38482820G	ACVR2B	NM_001106.4(ACVR2B):c.1344+260A>G	noncoding	Benign
3	38482837	G	C	G38482837C	ACVR2B	NM_001106.4(ACVR2B):c.1344+277G>C	noncoding	Benign
3	38482847	C	G	C38482847G	ACVR2B	NM_001106.4(ACVR2B):c.1344+287C>G	noncoding	Benign
3	38482872	C	T	C38482872T	ACVR2B	NM_001106.4(ACVR2B):c.1345-266C>T	noncoding	Benign
3	38483203	C	T	C38483203T	ACVR2B	NM_001106.4(ACVR2B):c.1410C>T:p.Ser470=	coding	Benign/Likely_benign
3	38550597	G	C	G38550597C	SCN5A	NM_000335.5(SCN5A):c.5772C>G:p.Ser1924=	coding	Benign/Likely_benign
3	38550705	G	A	G38550705A	SCN5A	NM_000335.5(SCN5A):c.5664C>T:p.Tyr1888=	coding	Benign/Likely_benign
3	38551134	G	A	G38551134A	SCN5A	NM_000335.5(SCN5A):c.5235C>T:p.Ala1745=	coding	Benign/Likely_benign
3	38551144	C	T	C38551144T	SCN5A	NM_000335.5(SCN5A):c.5225G>A:p.Gly1742Glu	coding	Pathogenic/Likely_pathogenic
3	38551513	G	T	G38551513T	SCN5A	NM_000335.5(SCN5A):c.4856C>A:p.Thr1619Lys	coding	Pathogenic
3	38551527	G	C	G38551527C	SCN5A	NM_000335.5(SCN5A):c.4842C>G:p.Tyr1614Ter	coding	Pathogenic
3	38551532	T	A	T38551532A	SCN5A	NM_000335.5(SCN5A):c.4837A>T:p.Lys1613Ter	coding	Pathogenic
3	38552452	T	C	T38552452C	SCN5A	NM_000335.5(SCN5A):c.4811-894A>G	noncoding	Benign
3	38554064	A	G	A38554064G	SCN5A	NM_000335.5(SCN5A):c.4810+215T>C	noncoding	Benign
3	38554115	G	C	G38554115C	SCN5A	NM_000335.5(SCN5A):c.4810+164C>G	noncoding	Benign
3	38554256	G	A	G38554256A	SCN5A	NM_000335.5(SCN5A):c.4810+23C>T	noncoding	Benign/Likely_benign
3	38555570	T	C	T38555570C	SCN5A	NM_000335.5(SCN5A):c.4539+86A>G	noncoding	Benign
3	38555662	C	T	C38555662T	SCN5A	NM_000335.5(SCN5A):c.4533G>A:p.Arg1511=	coding	Benign/Likely_benign
3	38555773	G	A	G38555773A	SCN5A	NM_000335.5(SCN5A):c.4435-13C>T	noncoding	Benign/Likely_benign
3	38555854	A	G	A38555854G	SCN5A	NM_000335.5(SCN5A):c.4435-94T>C	noncoding	Benign
3	38556559	C	T	C38556559T	SCN5A	NM_000335.5(SCN5A):c.4316G>A:p.Trp1439Ter	coding	Pathogenic
3	38557203	G	A	G38557203A	SCN5A	NM_000335.5(SCN5A):c.4296+28C>T	noncoding	Benign
3	38560065	T	C	T38560065C	SCN5A	NM_000335.5(SCN5A):c.4242+82A>G	noncoding	Benign
3	38560145	A	T	A38560145T	SCN5A	NM_000335.5(SCN5A):c.4242+2T>A	noncoding	Pathogenic/Likely_pathogenic
3	38566415	G	A	G38566415A	SCN5A	NM_000335.5(SCN5A):c.3831C>T:p.Ile1277=	coding	Benign/Likely_benign
3	38566523	G	A	G38566523A	SCN5A	NM_000335.5(SCN5A):c.3723C>T:p.Ala1241=	coding	Benign/Likely_benign
3	38573825	C	T	C38573825T	SCN5A	NM_000335.5(SCN5A):c.3663+1472G>A	noncoding	Benign
3	38575387	C	T	C38575387T	SCN5A	NM_000335.5(SCN5A):c.3573G>A:p.Trp1191Ter	coding	Pathogenic
3	38575635	A	G	A38575635G	SCN5A	NM_000335.5(SCN5A):c.3509-184T>C	noncoding	Benign
3	38576589	A	G	A38576589G	SCN5A	NM_000335.5(SCN5A):c.3508+72T>C	noncoding	Benign
3	38576650	C	T	C38576650T	SCN5A	NM_000335.5(SCN5A):c.3508+11G>A	noncoding	Benign/Likely_benign
3	38576775	C	A	C38576775A	SCN5A	NM_000335.5(SCN5A):c.3394G>T:p.Glu1132Ter	coding	Pathogenic
3	38576796	G	A	G38576796A	SCN5A	NM_000335.5(SCN5A):c.3388-15C>T	noncoding	Benign/Likely_benign
3	38579346	T	C	T38579346C	SCN5A	NM_000335.5(SCN5A):c.3375A>G:p.Pro1125=	coding	Benign/Likely_benign
3	38579379	C	T	C38579379T	SCN5A	NM_000335.5(SCN5A):c.3342G>A:p.Trp1114Ter	coding	Pathogenic
3	38579424	C	T	C38579424T	SCN5A	NM_000335.5(SCN5A):c.3297G>A:p.Ala1099=	coding	Benign/Likely_benign
3	38579440	C	T	C38579440T	SCN5A	NM_000335.5(SCN5A):c.3281G>A:p.Trp1094Ter	coding	Pathogenic
3	38580984	G	A	G38580984A	SCN5A	NM_000335.5(SCN5A):c.3175C>T:p.Gln1059Ter	coding	Pathogenic
3	38581012	G	A	G38581012A	SCN5A	NM_000335.5(SCN5A):c.3147C>T:p.Ile1049=	coding	Benign/Likely_benign
3	38581107	T	A	T38581107A	SCN5A	NM_000335.5(SCN5A):c.3052A>T:p.Lys1018Ter	coding	Pathogenic
3	38581132	G	T	G38581132T	SCN5A	NM_000335.5(SCN5A):c.3027C>A:p.Tyr1009Ter	coding	Pathogenic
3	38581161	G	A	G38581161A	SCN5A	NM_000335.5(SCN5A):c.2998C>T:p.Gln1000Ter	coding	Pathogenic
3	38581273	G	A	G38581273A	SCN5A	NM_000335.5(SCN5A):c.2886C>T:p.Ala962=	coding	Benign/Likely_benign
3	38585800	C	A	C38585800A	SCN5A	NM_000335.5(SCN5A):c.2678G>T:p.Arg893Leu	coding	Pathogenic
3	38585860	G	C	G38585860C	SCN5A	NM_000335.5(SCN5A):c.2618C>G:p.Ser873Ter	coding	Pathogenic
3	38597761	C	A	C38597761A	SCN5A	NM_000335.5(SCN5A):c.2230G>T:p.Glu744Ter	coding	Pathogenic
3	38597888	C	T	C38597888T	SCN5A	NM_000335.5(SCN5A):c.2103G>A:p.Pro701=	coding	Benign/Likely_benign
3	38597900	C	T	C38597900T	SCN5A	NM_000335.5(SCN5A):c.2091G>A:p.Trp697Ter	coding	Pathogenic
3	38597921	G	A	G38597921A	SCN5A	NM_000335.5(SCN5A):c.2070C>T:p.Leu690=	coding	Benign/Likely_benign
3	38599020	G	A	G38599020A	SCN5A	NM_000335.5(SCN5A):c.1921C>T:p.Gln641Ter	coding	Pathogenic/Likely_pathogenic
3	38603868	G	T	G38603868T	SCN5A	NM_000335.5(SCN5A):c.1734C>A:p.Pro578=	coding	Benign/Likely_benign
3	38603923	G	C	G38603923C	SCN5A	NM_000335.5(SCN5A):c.1679C>G:p.Ser560Ter	coding	Pathogenic
3	38606101	G	A	G38606101A	SCN5A	NM_000335.5(SCN5A):c.1188C>T:p.Val396=	coding	Benign/Likely_benign
3	38606571	C	T	C38606571T	SCN5A	NM_000335.5(SCN5A):c.1140+98G>A	noncoding	Benign
3	38608413	A	C	A38608413C	SCN5A	NM_000335.5(SCN5A):c.935-199T>G	noncoding	Benign
3	38609733	C	T	C38609733T	SCN5A	NM_000335.5(SCN5A):c.934+1G>A	noncoding	Pathogenic
3	38609768	G	C	G38609768C	SCN5A	NM_000335.5(SCN5A):c.900C>G:p.Val300=	coding	Benign/Likely_benign
3	38609810	C	T	C38609810T	SCN5A	NM_000335.5(SCN5A):c.858G>A:p.Ala286=	coding	Benign/Likely_benign
3	38609974	G	A	G38609974A	SCN5A	NM_000335.5(SCN5A):c.704-10C>T	noncoding	Benign
3	38614031	G	A	G38614031A	SCN5A	NM_001099404.2(SCN5A):c.647C>T:p.Ser216Leu	coding	Benign/Likely_benign
3	38614152	C	T	C38614152T	SCN5A	NM_000335.5(SCN5A):c.612-318G>A	noncoding	Benign
3	38616408	A	T	A38616408T	SCN5A	NM_000335.5(SCN5A):c.612-2574T>A	noncoding	Benign
3	38620865	C	G	C38620865G	SCN5A	NM_000335.5(SCN5A):c.589G>C:p.Asp197His	coding	Pathogenic
3	38620876	C	T	C38620876T	SCN5A	NM_000335.5(SCN5A):c.578G>A:p.Trp193Ter	coding	Pathogenic
3	38620902	G	A	G38620902A	SCN5A	NM_000335.5(SCN5A):c.552C>T:p.His184=	coding	Benign/Likely_benign
3	38620972	C	T	C38620972T	SCN5A	NM_000335.5(SCN5A):c.483-1G>A	coding	Pathogenic/Likely_pathogenic
3	38620989	G	A	G38620989A	SCN5A	NM_000335.5(SCN5A):c.483-18C>T	noncoding	Benign
3	38622429	G	A	G38622429A	SCN5A	NM_000335.5(SCN5A):c.453C>T:p.His151=	coding	Benign/Likely_benign
3	38630346	G	C	G38630346C	SCN5A	NM_000335.5(SCN5A):c.357C>G:p.Pro119=	coding	Benign/Likely_benign
3	38630393	G	A	G38630393A	SCN5A	NM_000335.5(SCN5A):c.310C>T:p.Arg104Trp	coding	Pathogenic/Likely_pathogenic
3	38630403	C	T	C38630403T	SCN5A	NM_000335.5(SCN5A):c.300G>A:p.Lys100=	coding	Benign/Likely_benign
3	38632984	C	T	C38632984T	SCN5A	NM_000335.5(SCN5A):c.273+51G>A	noncoding	Benign
3	38633040	G	A	G38633040A	SCN5A	NM_000335.5(SCN5A):c.268C>T:p.Gln90Ter	coding	Pathogenic
3	38633091	G	A	G38633091A	SCN5A	NM_000335.5(SCN5A):c.217C>T:p.Gln73Ter	coding	Pathogenic
3	38633133	G	A	G38633133A	SCN5A	NM_000335.5(SCN5A):c.175C>T:p.Gln59Ter	coding	Pathogenic/Likely_pathogenic
3	38633167	G	C	G38633167C	SCN5A	NM_000335.5(SCN5A):c.141C>G:p.Pro47=	coding	Benign/Likely_benign
3	38649417	G	A	G38649417A	SCN5A	NM_000335.5(SCN5A):c.-53+114C>T	noncoding	Benign
3	38649795	G	T	G38649795T	SCN5A	Single_allele	noncoding	Benign
3	38697226	G	A	G38697226A	SCN10A	NM_006514.4(SCN10A):c.*123C>T	noncoding	Benign
3	38697615	G	A	G38697615A	SCN10A	NM_006514.4(SCN10A):c.5605C>T:p.Arg1869Cys	coding	Benign/Likely_benign
3	38698806	G	A	G38698806A	SCN10A	NM_006514.4(SCN10A):c.4658-244C>T	noncoding	Benign
3	38712149	T	A	T38712149A	SCN10A	NM_006514.4(SCN10A):c.4089+12A>T	noncoding	Benign/Likely_benign
3	38722009	G	C	G38722009C	SCN10A	NM_006514.4(SCN10A):c.3507+249C>G	noncoding	Benign
3	38722580	C	T	C38722580T	SCN10A	NM_006514.4(SCN10A):c.3353-168G>A	noncoding	Benign
3	38723294	C	T	C38723294T	SCN10A	NM_006514.4(SCN10A):c.3352+136G>A	noncoding	Benign
3	38725824	T	C	T38725824C	SCN10A	NM_006514.4(SCN10A):c.3088-510A>G	noncoding	Benign
3	38726470	A	C	A38726470C	SCN10A	NM_006514.4(SCN10A):c.3087+136T>G	noncoding	Benign
3	38726565	C	T	C38726565T	SCN10A	NM_006514.4(SCN10A):c.3087+41G>A	noncoding	Benign
3	38728377	C	T	C38728377T	SCN10A	NM_006514.4(SCN10A):c.2640+165G>A	noncoding	Benign
3	38739480	G	A	G38739480A	SCN10A	NM_006514.4(SCN10A):c.2280+35C>T	noncoding	Benign
3	38750060	G	A	G38750060A	SCN10A	NM_006514.4(SCN10A):c.1867+13C>T	noncoding	Benign/Likely_benign
3	38751968	T	A	T38751968A	SCN10A	NM_006514.4(SCN10A):c.1755+251A>T	noncoding	Benign
3	38752497	C	T	C38752497T	SCN10A	NM_006514.4(SCN10A):c.1477G>A:p.Ala493Thr	coding	Benign/Likely_benign
3	38760664	A	G	A38760664G	SCN10A	NM_006514.4(SCN10A):c.950+17T>C	noncoding	Benign/Likely_benign
3	38788893	C	T	C38788893T	SCN10A	NM_006514.4(SCN10A):c.470+63G>A	noncoding	Benign
3	38789301	T	G	T38789301G	SCN10A	NM_006514.4(SCN10A):c.390-265A>C	noncoding	Benign
3	38793593	G	T	G38793593T	SCN10A	NM_006514.4(SCN10A):c.270+148C>A	noncoding	Benign
3	38846479	T	A	T38846479A	SCN11A	NM_001349253.2(SCN11A):c.*215A>T	noncoding	Benign
3	38846530	T	C	T38846530C	SCN11A	NM_001349253.2(SCN11A):c.*164A>G	noncoding	Benign
3	38846790	A	T	A38846790T	SCN11A	NM_001349253.2(SCN11A):c.5280T>A:p.Asn1760Lys	coding	Benign/Likely_benign
3	38846863	C	A	C38846863A	SCN11A	NM_001349253.2(SCN11A):c.5207G>T:p.Gly1736Val	coding	Benign/Likely_benign
3	38847273	G	A	G38847273A	SCN11A	NM_001349253.2(SCN11A):c.4797C>T:p.Tyr1599=	coding	Benign
3	38850536	G	A	G38850536A	SCN11A	NM_001349253.2(SCN11A):c.4272C>T:p.Tyr1424=	coding	Benign/Likely_benign
3	38867624	T	C	T38867624C	SCN11A	NM_001349253.2(SCN11A):c.3814-166A>G	noncoding	Benign
3	38867677	C	A	C38867677A	SCN11A	NM_001349253.2(SCN11A):c.3814-219G>T	noncoding	Benign
3	38870481	C	T	C38870481T	SCN11A	NM_001349253.2(SCN11A):c.3813+210G>A	noncoding	Benign
3	38871435	C	T	C38871435T	SCN11A	NM_001349253.2(SCN11A):c.3759+10G>A	noncoding	Benign
3	38872078	G	T	G38872078T	SCN11A	NM_001349253.2(SCN11A):c.3495+115C>A	noncoding	Benign
3	38872442	G	A	G38872442A	SCN11A	NM_001349253.2(SCN11A):c.3394-148C>T	noncoding	Benign
3	38872478	A	G	A38872478G	SCN11A	NM_001349253.2(SCN11A):c.3394-184T>C	noncoding	Benign
3	38879921	T	G	T38879921G	SCN11A	NM_001349253.2(SCN11A):c.3393+29A>C	noncoding	Benign
3	38885486	T	G	T38885486G	SCN11A	NM_001349253.2(SCN11A):c.2950-84A>C	noncoding	Benign
3	38886363	T	G	T38886363G	SCN11A	NM_001349253.2(SCN11A):c.2836-125A>C	noncoding	Benign
3	38894566	T	C	T38894566C	SCN11A	NM_001349253.2(SCN11A):c.2802A>G:p.Ala934=	coding	Benign
3	38894593	G	A	G38894593A	SCN11A	NM_001349253.2(SCN11A):c.2775C>T:p.Asp925=	coding	Benign
3	38894997	A	G	A38894997G	SCN11A	NM_001349253.2(SCN11A):c.2404-33T>C	noncoding	Benign
3	38896823	G	T	G38896823T	SCN11A	NM_001349253.2(SCN11A):c.2403+22C>A	noncoding	Benign
3	38897035	G	A	G38897035A	SCN11A	NM_001349253.2(SCN11A):c.2213C>T:p.Pro738Leu	coding	Benign/Likely_benign
3	38897242	C	T	C38897242T	SCN11A	NM_001349253.2(SCN11A):c.2023-17G>A	noncoding	Benign
3	38897354	T	C	T38897354C	SCN11A	NM_001349253.2(SCN11A):c.2023-129A>G	noncoding	Benign
3	38899704	A	G	A38899704G	SCN11A	NM_001349253.2(SCN11A):c.2022+190T>C	noncoding	Benign
3	38903597	A	C	A38903597C	SCN11A	NM_001349253.2(SCN11A):c.1842+268T>G	noncoding	Benign
3	38903689	G	A	G38903689A	SCN11A	NM_001349253.2(SCN11A):c.1842+176C>T	noncoding	Benign
3	38904925	T	G	T38904925G	SCN11A	NM_001349253.2(SCN11A):c.1603+267A>C	noncoding	Benign
3	38905381	A	T	A38905381T	SCN11A	NM_001349253.2(SCN11A):c.1474-60T>A	noncoding	Benign
3	38907872	A	C	A38907872C	SCN11A	NM_001349253.2(SCN11A):c.1473+77T>G	noncoding	Benign
3	38907930	T	A	T38907930A	SCN11A	NM_001349253.2(SCN11A):c.1473+19A>T	noncoding	Benign
3	38907937	G	A	G38907937A	SCN11A	NM_001349253.2(SCN11A):c.1473+12C>T	noncoding	Benign/Likely_benign
3	38908140	G	C	G38908140C	SCN11A	NM_001349253.2(SCN11A):c.1300-18C>G	noncoding	Benign/Likely_benign
3	38908216	T	C	T38908216C	SCN11A	NM_001349253.2(SCN11A):c.1300-94A>G	noncoding	Benign
3	38908728	A	G	A38908728G	SCN11A	NM_001349253.2(SCN11A):c.1299+269T>C	noncoding	Benign
3	38908850	G	A	G38908850A	SCN11A	NM_001349253.2(SCN11A):c.1299+147C>T	noncoding	Benign
3	38909039	C	A	C38909039A	SCN11A	NM_001349253.2(SCN11A):c.1257G>T:p.Lys419Asn	coding	Benign/Likely_benign
3	38909369	A	G	A38909369G	SCN11A	NM_001349253.2(SCN11A):c.1102-175T>C	noncoding	Benign
3	38909946	T	C	T38909946C	SCN11A	NM_001349253.2(SCN11A):c.1101+120A>G	noncoding	Benign
3	38910054	T	A	T38910054A	SCN11A	NM_001349253.2(SCN11A):c.1101+12A>T	noncoding	Benign
3	38910070	T	C	T38910070C	SCN11A	NM_001349253.2(SCN11A):c.1097A>G:p.Gln366Arg	coding	Benign/Likely_benign
3	38910262	T	C	T38910262C	SCN11A	NM_001349253.2(SCN11A):c.960-55A>G	noncoding	Benign
3	38920046	T	C	T38920046C	SCN11A	NM_001349253.2(SCN11A):c.893-45A>G	noncoding	Benign
3	38920168	T	C	T38920168C	SCN11A	NM_001349253.2(SCN11A):c.893-167A>G	noncoding	Benign
3	38920897	G	C	G38920897C	SCN11A	NM_001349253.2(SCN11A):c.892+179C>G	noncoding	Benign
3	38921267	G	T	G38921267T	SCN11A	NM_001349253.2(SCN11A):c.713-12C>A	noncoding	Benign
3	38921408	G	A	G38921408A	SCN11A	NM_001349253.2(SCN11A):c.713-153C>T	noncoding	Benign
3	38925144	A	G	A38925144G	SCN11A	NM_001349253.2(SCN11A):c.712+271T>C	noncoding	Benign
3	38925190	A	G	A38925190G	SCN11A	NM_001349253.2(SCN11A):c.712+225T>C	noncoding	Benign
3	38925462	C	T	C38925462T	SCN11A	NM_001349253.2(SCN11A):c.665G>A:p.Arg222His	coding	Pathogenic
3	38925551	C	T	C38925551T	SCN11A	NM_001349253.2(SCN11A):c.618-42G>A	noncoding	Benign
3	38925612	C	T	C38925612T	SCN11A	NM_001349253.2(SCN11A):c.618-103G>A	noncoding	Benign
3	38925704	C	G	C38925704G	SCN11A	NM_001349253.2(SCN11A):c.618-195G>C	noncoding	Benign
3	38927062	A	C	A38927062C	SCN11A	NM_001349253.2(SCN11A):c.489-131T>G	noncoding	Benign
3	38945340	T	C	T38945340C	SCN11A	NM_001349253.2(SCN11A):c.488+71A>G	noncoding	Benign
3	38945564	G	A	G38945564A	SCN11A	NM_001349253.2(SCN11A):c.387-52C>T	noncoding	Benign
3	38946622	C	T	C38946622T	SCN11A	NM_001349253.2(SCN11A):c.386+167G>A	noncoding	Benign
3	38946729	G	A	G38946729A	SCN11A	NM_001349253.2(SCN11A):c.386+60C>T	noncoding	Benign
3	38947050	G	A	G38947050A	SCN11A	NM_001349253.2(SCN11A):c.268-143C>T	noncoding	Benign
3	38947161	C	T	C38947161T	SCN11A	NM_001349253.2(SCN11A):c.268-254G>A	noncoding	Benign
3	38947227	T	C	T38947227C	SCN11A	NM_001349253.2(SCN11A):c.268-320A>G	noncoding	Benign
3	38950063	A	C	A38950063C	SCN11A	NM_001349253.2(SCN11A):c.267+33T>G	noncoding	Benign
3	38950069	A	C	A38950069C	SCN11A	NM_001349253.2(SCN11A):c.267+27T>G	noncoding	Benign
3	38950078	C	G	C38950078G	SCN11A	NM_001349253.2(SCN11A):c.267+18G>C	noncoding	Benign
3	38950082	G	C	G38950082C	SCN11A	NM_001349253.2(SCN11A):c.267+14C>G	noncoding	Benign
3	38950107	G	T	G38950107T	SCN11A	NM_001349253.2(SCN11A):c.256C>A:p.Arg86=	coding	Benign
3	38950111	G	A	G38950111A	SCN11A	NM_001349253.2(SCN11A):c.252C>T:p.Phe84=	coding	Benign
3	38950268	G	A	G38950268A	SCN11A	NM_001349253.2(SCN11A):c.95C>T:p.Ala32Val	coding	Benign/Likely_benign
3	38950542	C	A	C38950542A	SCN11A	NM_001349253.2(SCN11A):c.-7-173G>T	noncoding	Benign
3	38950616	A	G	A38950616G	SCN11A	NM_001349253.2(SCN11A):c.-7-247T>C	noncoding	Benign
3	38950782	C	T	C38950782T	SCN11A	NM_001349253.2(SCN11A):c.-7-413G>A	noncoding	Benign
3	38960299	G	A	G38960299A	SCN11A	NM_001349253.2(SCN11A):c.-155C>T	noncoding	Benign
3	39384000	G	C	G39384000C	SLC25A38	NM_017875.4(SLC25A38):c.69+207G>C	noncoding	Benign
3	39384050	C	T	C39384050T	SLC25A38	NM_017875.4(SLC25A38):c.69+257C>T	noncoding	Benign
3	39389303	A	G	A39389303G	SLC25A38	NM_017875.4(SLC25A38):c.70-192A>G	noncoding	Benign
3	39389600	C	T	C39389600T	SLC25A38	NM_017875.4(SLC25A38):c.175C>T:p.Gln59Ter	coding	Pathogenic
3	39390427	A	G	A39390427G	SLC25A38	NM_017875.4(SLC25A38):c.196A>G:p.Arg66Gly	coding	Benign/Likely_benign
3	39390491	G	A	G39390491A	SLC25A38	NM_017875.4(SLC25A38):c.260G>A:p.Trp87Ter	coding	Pathogenic
3	39390508	G	A	G39390508A	SLC25A38	NM_017875.4(SLC25A38):c.276+1G>A	coding	Pathogenic
3	39390508	G	T	G39390508T	SLC25A38	NM_017875.4(SLC25A38):c.276+1G>T	coding	Pathogenic
3	39391294	C	T	C39391294T	SLC25A38	NM_017875.4(SLC25A38):c.277-147C>T	noncoding	Benign
3	39391439	A	C	A39391439C	SLC25A38	NM_017875.4(SLC25A38):c.277-2A>C	noncoding	Pathogenic
3	39391445	T	A	T39391445A	SLC25A38	NM_017875.4(SLC25A38):c.281T>A:p.Ile94Asn	coding	Pathogenic
3	39391469	G	A	G39391469A	SLC25A38	NM_017875.4(SLC25A38):c.305G>A:p.Gly102Glu	coding	Pathogenic
3	39391552	G	A	G39391552A	SLC25A38	NM_017875.4(SLC25A38):c.388G>A:p.Gly130Arg	coding	Pathogenic
3	39391553	G	A	G39391553A	SLC25A38	NM_017875.4(SLC25A38):c.389G>A:p.Gly130Glu	coding	Pathogenic
3	39391565	G	A	G39391565A	SLC25A38	NM_017875.4(SLC25A38):c.401G>A:p.Arg134His	coding	Pathogenic
3	39391604	T	A	T39391604A	SLC25A38	NM_017875.4(SLC25A38):c.440T>A:p.Ile147Asn	coding	Pathogenic
3	39391656	G	A	G39391656A	SLC25A38	NM_017875.4(SLC25A38):c.456+36G>A	noncoding	Benign
3	39391852	G	T	G39391852T	SLC25A38	NM_017875.4(SLC25A38):c.457-1G>T	noncoding	Pathogenic
3	39391865	G	C	G39391865C	SLC25A38	NM_017875.4(SLC25A38):c.469G>C:p.Gly157Arg	coding	Pathogenic
3	39391956	G	A	G39391956A	SLC25A38	NM_017875.4(SLC25A38):c.560G>A:p.Arg187Gln	coding	Pathogenic
3	39391956	G	C	G39391956C	SLC25A38	NM_017875.4(SLC25A38):c.560G>C:p.Arg187Pro	coding	Pathogenic/Likely_pathogenic
3	39391958	G	C	G39391958C	SLC25A38	NM_017875.4(SLC25A38):c.562G>C:p.Asp188His	coding	Pathogenic
3	39391965	C	G	C39391965G	SLC25A38	NM_017875.4(SLC25A38):c.569C>G:p.Pro190Arg	coding	Pathogenic
3	39391983	T	C	T39391983C	SLC25A38	NM_017875.4(SLC25A38):c.587T>C:p.Leu196Pro	coding	Pathogenic
3	39392021	G	C	G39392021C	SLC25A38	NM_017875.4(SLC25A38):c.625G>C:p.Asp209His	coding	Pathogenic/Likely_pathogenic
3	39392092	A	G	A39392092G	SLC25A38	NM_017875.4(SLC25A38):c.625+71A>G	noncoding	Benign
3	39392262	T	C	T39392262C	SLC25A38	NM_017875.4(SLC25A38):c.625+241T>C	noncoding	Benign
3	39394374	G	C	G39394374C	SLC25A38	NM_017875.4(SLC25A38):c.626-36G>C	noncoding	Benign
3	39394408	A	T	A39394408T	SLC25A38	NM_017875.4(SLC25A38):c.626-2A>T	noncoding	Pathogenic
3	39394473	T	C	T39394473C	SLC25A38	NM_017875.4(SLC25A38):c.689T>C:p.Leu230Pro	coding	Pathogenic
3	39394581	G	C	G39394581C	SLC25A38	NM_017875.4(SLC25A38):c.792+5G>C	noncoding	Pathogenic
3	39394674	A	C	A39394674C	SLC25A38	NM_017875.4(SLC25A38):c.792+98A>C	noncoding	Benign
3	39394869	C	G	C39394869G	SLC25A38	NM_017875.4(SLC25A38):c.792+293C>G	noncoding	Benign
3	39396309	A	G	A39396309G	SLC25A38	NM_017875.4(SLC25A38):c.793-89A>G	noncoding	Benign
3	39396437	C	G	C39396437G	SLC25A38	NM_017875.4(SLC25A38):c.832C>G:p.Arg278Gly	coding	Pathogenic
3	39396437	C	T	C39396437T	SLC25A38	NM_017875.4(SLC25A38):c.832C>T:p.Arg278Ter	coding	Pathogenic
3	39396484	T	G	T39396484G	SLC25A38	NM_017875.4(SLC25A38):c.879T>G:p.Tyr293Ter	coding	Pathogenic
3	39396518	T	C	T39396518C	SLC25A38	NM_017875.4(SLC25A38):c.913T>C:p.Ter305Arg	coding	Pathogenic
3	39408574	C	T	C39408574T	RPSA	NM_002295.6(RPSA):c.134-32C>T	noncoding	Benign
3	39408700	T	C	T39408700C	RPSA	NM_002295.6(RPSA):c.228T>C:p.Val76=	coding	Benign
3	39408741	T	C	T39408741C	RPSA	NM_002295.6(RPSA):c.252+17T>C	noncoding	Benign
3	41224606	G	A	G41224606A	CTNNB1	NM_001904.4(CTNNB1):c.94G>A:p.Asp32Asn	coding	Pathogenic
3	41224606	G	C	G41224606C	CTNNB1	NM_001904.4(CTNNB1):c.94G>C:p.Asp32His	coding	Pathogenic/Likely_pathogenic
3	41224672	G	T	G41224672T	CTNNB1	NM_001904.4(CTNNB1):c.160G>T:p.Glu54Ter	coding	Pathogenic
3	41224675	G	T	G41224675T	CTNNB1	NM_001904.4(CTNNB1):c.163G>T:p.Glu55Ter	coding	Pathogenic
3	41224693	C	T	C41224693T	CTNNB1	NM_001904.4(CTNNB1):c.181C>T:p.Gln61Ter	coding	Pathogenic
3	41225079	C	T	C41225079T	CTNNB1	NM_001904.4(CTNNB1):c.367C>T:p.Gln123Ter	coding	Pathogenic
3	41225471	T	C	T41225471C	CTNNB1	NM_001904.4(CTNNB1):c.633T>C:p.Ala211=	coding	Benign/Likely_benign
3	41225484	G	A	G41225484A	CTNNB1	NM_001904.4(CTNNB1):c.646G>A:p.Gly216Arg	coding	Pathogenic
3	41225640	G	A	G41225640A	CTNNB1	NM_001904.4(CTNNB1):c.735-20G>A	noncoding	Benign
3	41225659	G	C	G41225659C	CTNNB1	NM_001904.4(CTNNB1):c.735-1G>C	noncoding	Pathogenic
3	41225733	A	T	A41225733T	CTNNB1	NM_001904.4(CTNNB1):c.808A>T:p.Lys270Ter	coding	Pathogenic
3	41225873	A	G	A41225873G	CTNNB1	NM_001904.4(CTNNB1):c.936+12A>G	noncoding	Benign
3	41225876	C	G	C41225876G	CTNNB1	NM_001904.4(CTNNB1):c.936+15C>G	noncoding	Benign
3	41227304	A	T	A41227304T	CTNNB1	NM_001904.4(CTNNB1):c.1033A>T:p.Lys345Ter	coding	Pathogenic
3	41233273	C	A	C41233273A	CTNNB1	NM_001904.4(CTNNB1):c.1082-68C>A	noncoding	Benign
3	41233324	C	G	C41233324G	CTNNB1	NM_001904.4(CTNNB1):c.1082-17C>G	noncoding	Benign
3	41233340	G	C	G41233340C	CTNNB1	NM_001904.4(CTNNB1):c.1082-1G>C	noncoding	Pathogenic
3	41233735	C	G	C41233735G	CTNNB1	NM_001904.4(CTNNB1):c.1392C>G:p.Ala464=	coding	Benign/Likely_benign
3	41234314	A	G	A41234314G	CTNNB1	NM_001904.4(CTNNB1):c.1683+17A>G	noncoding	Benign
3	41235549	C	T	C41235549T	CTNNB1	NM_001904.4(CTNNB1):c.1684-175C>T	noncoding	Benign
3	41235763	G	A	G41235763A	CTNNB1	NM_001904.4(CTNNB1):c.1723G>A:p.Gly575Arg	coding	Pathogenic/Likely_pathogenic
3	41236375	C	T	C41236375T	CTNNB1	NM_001904.4(CTNNB1):c.1830C>T:p.Ile610=	coding	Benign/Likely_benign
3	41236469	G	T	G41236469T	CTNNB1	NM_001904.4(CTNNB1):c.1924G>T:p.Glu642Ter	coding	Pathogenic
3	41236472	T	C	T41236472C	CTNNB1	NM_001904.4(CTNNB1):c.1927T>C:p.Leu643=	coding	Benign
3	41237949	A	G	A41237949G	CTNNB1	NM_001904.4(CTNNB1):c.2077-67A>G	noncoding	Benign
3	41238542	A	G	A41238542G	CTNNB1	NM_001904.4(CTNNB1):c.2137+466A>G	noncoding	Benign
3	41239897	T	G	T41239897G	CTNNB1	NM_001904.4(CTNNB1):c.*555T>G	noncoding	Benign
3	42125445	G	A	G42125445A	TRAK1	NM_001042646.3(TRAK1):c.117G>A:p.Pro39=	coding	Benign
3	42125451	C	T	C42125451T	TRAK1	NM_001042646.3(TRAK1):c.123C>T:p.Val41=	coding	Benign
3	42125615	G	A	G42125615A	TRAK1	NM_001042646.3(TRAK1):c.286+1G>A	coding	Pathogenic
3	42184659	T	C	T42184659C	TRAK1	NM_001042646.3(TRAK1):c.364-26T>C	noncoding	Benign
3	42184753	C	T	C42184753T	TRAK1	NM_001042646.3(TRAK1):c.432C>T:p.Thr144=	coding	Benign
3	42184818	C	T	C42184818T	TRAK1	NM_001042646.3(TRAK1):c.480+17C>T	noncoding	Benign
3	42188029	T	C	T42188029C	TRAK1	NM_001042646.3(TRAK1):c.481-16T>C	noncoding	Benign
3	42188035	G	T	G42188035T	TRAK1	NM_001042646.3(TRAK1):c.481-10G>T	noncoding	Benign
3	42193248	G	A	G42193248A	TRAK1	NM_001042646.3(TRAK1):c.900+43G>A	noncoding	Benign
3	42193853	G	A	G42193853A	TRAK1	NM_001042646.3(TRAK1):c.930G>A:p.Gln310=	coding	Benign
3	42194923	A	G	A42194923G	TRAK1	NM_001042646.3(TRAK1):c.1095A>G:p.Ser365=	coding	Benign
3	42199236	C	T	C42199236T	TRAK1	NM_001042646.3(TRAK1):c.1173C>T:p.Ala391=	coding	Benign
3	42201047	G	A	G42201047A	TRAK1	NM_001042646.3(TRAK1):c.1420G>A:p.Asp474Asn	coding	Benign
3	42202557	G	A	G42202557A	TRAK1	NM_001042646.3(TRAK1):c.1549G>A:p.Glu517Lys	coding	Benign
3	42202559	G	A	G42202559A	TRAK1	NM_001042646.3(TRAK1):c.1551G>A:p.Glu517=	coding	Benign
3	42202829	G	A	G42202829A	TRAK1	NM_001042646.3(TRAK1):c.1744+77G>A	coding	Benign
3	42209771	C	T	C42209771T	TRAK1	NM_001042646.3(TRAK1):c.1749C>T:p.Ser583=	coding	Benign
3	42209837	C	T	C42209837T	TRAK1	NM_001042646.3(TRAK1):c.1815C>T:p.Pro605=	coding	Benign
3	42217117	T	A	T42217117A	TRAK1	NM_001042646.3(TRAK1):c.1964-2377T>A	noncoding	Benign
3	42220574	C	T	C42220574T	TRAK1	NM_001042646.3(TRAK1):c.2066+978C>T	noncoding	Benign
3	42222901	A	G	A42222901G	TRAK1	NM_001042646.3(TRAK1):c.2067-41A>G	noncoding	Benign
3	42222930	T	C	T42222930C	TRAK1	NM_001042646.3(TRAK1):c.2067-12T>C	noncoding	Benign
3	42223454	G	A	G42223454A	TRAK1	NM_001042646.3(TRAK1):c.2579G>A:p.Arg860Gln	coding	Benign
3	42223607	A	G	A42223607G	TRAK1	NM_001042646.3(TRAK1):c.2732A>G:p.Asn911Ser	coding	Benign
3	42223674	T	C	T42223674C	TRAK1	NM_001042646.3(TRAK1):c.2799T>C:p.Pro933=	coding	Benign
3	42658762	C	T	C42658762T	ZBTB47	NM_145166.4(ZBTB47):c.407C>T:p.Pro136Leu	coding	Benign
3	42659138	A	G	A42659138G	ZBTB47	NM_145166.4(ZBTB47):c.783A>G:p.Pro261=	coding	Benign
3	42659784	G	A	G42659784A	ZBTB47	NM_145166.4(ZBTB47):c.1429G>A:p.Glu477Lys	coding	Pathogenic
3	42685676	C	T	C42685676T	KLHL40	NM_152393.4(KLHL40):c.58C>T:p.Gln20Ter	coding	Pathogenic
3	42685841	G	T	G42685841T	KLHL40	NM_152393.4(KLHL40):c.223G>T:p.Glu75Ter	coding	Pathogenic
3	42686321	G	T	G42686321T	KLHL40	NM_152393.4(KLHL40):c.703G>T:p.Glu235Ter	coding	Pathogenic/Likely_pathogenic
3	42688550	C	T	C42688550T	KLHL40	NM_152393.4(KLHL40):c.1314-60C>T	noncoding	Benign
3	42688598	C	T	C42688598T	KLHL40	NM_152393.4(KLHL40):c.1314-12C>T	noncoding	Benign/Likely_benign
3	42688963	A	C	A42688963C	KLHL40	NM_152393.4(KLHL40):c.1516A>C:p.Thr506Pro	coding	Pathogenic
3	42689156	C	G	C42689156G	KLHL40	NM_152393.4(KLHL40):c.1607+102C>G	noncoding	Benign
3	42690858	G	A	G42690858A	KLHL40	NM_152393.4(KLHL40):c.1608-1G>A	noncoding	Pathogenic
3	42692175	A	C	A42692175C	KLHL40	NM_152393.4(KLHL40):c.*182A>C	noncoding	Benign
3	43079537	C	A	C43079537A	POMGNT2	NM_032806.6(POMGNT2):c.*152G>T	noncoding	Benign
3	43079574	G	T	G43079574T	POMGNT2	NM_032806.6(POMGNT2):c.*115C>A	noncoding	Benign
3	43080929	A	G	A43080929G	POMGNT2	NM_032806.6(POMGNT2):c.503T>C:p.Phe168Ser	coding	Pathogenic
3	43081314	G	A	G43081314A	POMGNT2	NM_032806.6(POMGNT2):c.118C>T:p.Arg40Ter	coding	Pathogenic
3	43081731	C	T	C43081731T	POMGNT2	NM_032806.6(POMGNT2):c.-105-195G>A	noncoding	Benign
3	43105689	A	C	A43105689C	POMGNT2	NM_032806.6(POMGNT2):c.-106+147T>G	noncoding	Benign
3	43106033	T	C	T43106033C	POMGNT2	NM_032806.6(POMGNT2):c.-303A>G	noncoding	Benign
3	43106046	T	G	T43106046G	POMGNT2	NM_032806.6(POMGNT2):c.-316A>C	noncoding	Benign
3	43366660	T	C	T43366660C	ANO10	NM_018075.5(ANO10):c.*246A>G	noncoding	Benign/Likely_benign
3	43367053	T	G	T43367053G	ANO10	NM_018075.5(ANO10):c.1915-79A>C	noncoding	Benign
3	43367244	C	T	C43367244T	ANO10	NM_018075.5(ANO10):c.1915-270G>A	noncoding	Benign
3	43372826	A	G	A43372826G	ANO10	NM_018075.5(ANO10):c.1915-5852T>C	coding	Benign
3	43432374	A	G	A43432374G	ANO10	NM_018075.5(ANO10):c.1914+237T>C	noncoding	Benign
3	43432422	A	C	A43432422C	ANO10	NM_018075.5(ANO10):c.1914+189T>G	noncoding	Benign
3	43549482	T	C	T43549482C	ANO10	NM_018075.5(ANO10):c.1797+238A>G	noncoding	Benign
3	43549642	C	A	C43549642A	ANO10	NM_018075.5(ANO10):c.1797+78G>T	noncoding	Benign
3	43549650	G	A	G43549650A	ANO10	NM_018075.5(ANO10):c.1797+70C>T	noncoding	Benign
3	43549913	T	C	T43549913C	ANO10	NM_018075.5(ANO10):c.1669-65A>G	noncoding	Benign
3	43555483	C	T	C43555483T	ANO10	NM_018075.5(ANO10):c.1477-14G>A	noncoding	Benign/Likely_benign
3	43555506	A	C	A43555506C	ANO10	NM_018075.5(ANO10):c.1477-37T>G	noncoding	Benign
3	43561091	G	A	G43561091A	ANO10	NM_018075.5(ANO10):c.1476+129C>T	noncoding	Benign
3	43565370	T	C	T43565370C	ANO10	NM_018075.5(ANO10):c.1293+283A>G	noncoding	Benign
3	43565371	A	C	A43565371C	ANO10	NM_018075.5(ANO10):c.1293+282T>G	noncoding	Benign
3	43565471	T	A	T43565471A	ANO10	NM_018075.5(ANO10):c.1293+182A>T	noncoding	Benign
3	43565728	C	A	C43565728A	ANO10	NM_018075.5(ANO10):c.1219-1G>T	coding	Pathogenic
3	43574873	T	C	T43574873C	ANO10	NM_018075.5(ANO10):c.1163-9A>G	noncoding	Pathogenic
3	43576891	G	A	G43576891A	ANO10	NM_018075.5(ANO10):c.963C>T:p.Phe321=	coding	Benign
3	43577384	C	T	C43577384T	ANO10	NM_018075.5(ANO10):c.593-123G>A	noncoding	Benign
3	43577488	T	G	T43577488G	ANO10	NM_018075.5(ANO10):c.593-227A>C	noncoding	Benign
3	43577489	G	C	G43577489C	ANO10	NM_018075.5(ANO10):c.593-228C>G	noncoding	Benign
3	43598989	A	C	A43598989C	ANO10	NM_018075.5(ANO10):c.338-323T>G	noncoding	Benign
3	43600515	A	T	A43600515T	ANO10	NM_018075.5(ANO10):c.206T>A:p.Leu69Ter	coding	Pathogenic
3	43600634	C	A	C43600634A	ANO10	NM_018075.5(ANO10):c.140-53G>T	noncoding	Benign
3	43600664	C	T	C43600664T	ANO10	NM_018075.5(ANO10):c.140-83G>A	noncoding	Benign
3	43605986	C	T	C43605986T	ANO10	NM_018075.5(ANO10):c.-11-123G>A	noncoding	Benign
3	43606081	A	G	A43606081G	ANO10	NM_018075.5(ANO10):c.-11-218T>C	noncoding	Benign
3	43606136	T	C	T43606136C	ANO10	NM_018075.5(ANO10):c.-11-273A>G	noncoding	Benign
3	43690879	A	G	A43690879G	ABHD5	NM_016006.5(ABHD5):c.-114A>G	noncoding	Benign/Likely_benign
3	43691098	G	A	G43691098A	ABHD5	NM_016006.6(ABHD5):c.47+59G>A	noncoding	Benign
3	43702018	C	A	C43702018A	ABHD5	NM_016006.6(ABHD5):c.134-197C>A	noncoding	Benign
3	43702916	C	T	C43702916T	ABHD5	NM_016006.6(ABHD5):c.506+329C>T	noncoding	Benign
3	44801966	C	T	C44801966T	KIF15	NM_020242.3(KIF15):c.1501C>T:p.Arg501Ter	coding	Pathogenic
3	45035854	C	A	C45035854A	CLEC3B	NM_003278.3(CLEC3B):c.539C>A:p.Ala180Asp	coding	Pathogenic
3	45388659	G	A	G45388659A	LARS2	NM_015340.4(LARS2):c.-109G>A	noncoding	Benign
3	45388753	C	G	C45388753G	LARS2	NM_015340.4(LARS2):c.-88+73C>G	noncoding	Benign
3	45394357	A	T	A45394357T	LARS2	NM_015340.4(LARS2):c.-21-76A>T	noncoding	Benign
3	45400334	C	T	C45400334T	LARS2	NM_015340.4(LARS2):c.324C>T:p.Ser108=	coding	Benign/Likely_benign
3	45400372	A	G	A45400372G	LARS2	NM_015340.4(LARS2):c.362A>G:p.Gln121Arg	coding	Benign
3	45400415	C	T	C45400415T	LARS2	NM_015340.4(LARS2):c.363+42C>T	noncoding	Benign
3	45458682	C	A	C45458682A	LARS2	NM_015340.4(LARS2):c.607-61C>A	noncoding	Benign
3	45485503	G	A	G45485503A	LARS2	NM_015340.4(LARS2):c.1019-189G>A	noncoding	Benign
3	45488461	A	G	A45488461G	LARS2	NM_015340.4(LARS2):c.1124-236A>G	noncoding	Benign
3	45496481	C	T	C45496481T	LARS2	NM_015340.4(LARS2):c.1622+108C>T	noncoding	Benign
3	45500489	A	G	A45500489G	LARS2	NM_015340.4(LARS2):c.1670A>G:p.Tyr557Cys	coding	Pathogenic
3	45517695	G	C	G45517695C	LARS2	NM_015340.4(LARS2):c.2045-208G>C	noncoding	Benign
3	45520343	G	C	G45520343C	LARS2	NM_015340.4(LARS2):c.2292+47G>C	noncoding	Benign
3	45541806	G	A	G45541806A	LARS2	NM_015340.4(LARS2):c.2405-23G>A	noncoding	Benign
3	45547420	G	A	G45547420A	LARS2	NM_015340.4(LARS2):c.2602G>A:p.Glu868Lys	coding	Benign/Likely_benign
3	45760066	C	T	C45760066T	SLC6A20	NM_020208.4(SLC6A20):c.1464-44G>A	noncoding	Benign
3	45760234	C	T	C45760234T	SLC6A20	NM_020208.4(SLC6A20):c.1464-212G>A	noncoding	Benign
3	45763242	C	T	C45763242T	SLC6A20	NM_020208.4(SLC6A20):c.1304-170G>A	noncoding	Benign
3	45763279	G	T	G45763279T	SLC6A20	NM_020208.4(SLC6A20):c.1304-207C>A	noncoding	Benign
3	45770472	A	G	A45770472G	SLC6A20	NM_020208.4(SLC6A20):c.936-101T>C	noncoding	Benign
3	45770981	A	G	A45770981G	SLC6A20	NM_020208.4(SLC6A20):c.935+236T>C	noncoding	Benign
3	45771022	G	A	G45771022A	SLC6A20	NM_020208.4(SLC6A20):c.935+195C>T	noncoding	Benign
3	45771158	C	A	C45771158A	SLC6A20	NM_020208.4(SLC6A20):c.935+59G>T	noncoding	Benign
3	45771158	C	T	C45771158T	SLC6A20	NM_020208.4(SLC6A20):c.935+59G>A	noncoding	Benign
3	45771533	A	G	A45771533G	SLC6A20	NM_020208.4(SLC6A20):c.694-75T>C	noncoding	Benign
3	45772309	A	C	A45772309C	SLC6A20	NM_020208.4(SLC6A20):c.693+196T>G	noncoding	Benign
3	45772811	T	C	T45772811C	SLC6A20	NM_020208.4(SLC6A20):c.583-196A>G	noncoding	Benign
3	45780132	T	C	T45780132C	SLC6A20	NM_020208.4(SLC6A20):c.263-32A>G	noncoding	Benign
3	45780195	C	T	C45780195T	SLC6A20	NM_020208.4(SLC6A20):c.263-95G>A	noncoding	Benign
3	45796686	C	T	C45796686T	SLC6A20	Single_allele	noncoding	Benign
3	45827338	G	A	G45827338A	LZTFL1	NM_020347.4(LZTFL1):c.881+18C>T	noncoding	Benign
3	45827340	G	A	G45827340A	LZTFL1	NM_020347.4(LZTFL1):c.881+16C>T	noncoding	Benign
3	45828480	C	T	C45828480T	LZTFL1	NM_020347.4(LZTFL1):c.736G>A:p.Asp246Asn	coding	Benign
3	45828570	C	T	C45828570T	LZTFL1	NM_020347.4(LZTFL1):c.646G>A:p.Ala216Thr	coding	Benign
3	45834226	C	A	C45834226A	LZTFL1	NM_020347.4(LZTFL1):c.384+12G>T	noncoding	Benign
3	45837914	C	T	C45837914T	LZTFL1	NM_020347.4(LZTFL1):c.128+13G>A	noncoding	Benign
3	45922005	G	T	G45922005T	FYCO1	NM_024513.4(FYCO1):c.4362-165C>A	noncoding	Benign
3	45923467	C	T	C45923467T	FYCO1	NM_024513.4(FYCO1):c.4361+189G>A	noncoding	Benign
3	45923894	G	A	G45923894A	FYCO1	NM_024513.4(FYCO1):c.4252-129C>T	noncoding	Benign
3	45931000	C	T	C45931000T	FYCO1	NM_024513.4(FYCO1):c.4251+71G>A	noncoding	Benign
3	45936374	C	T	C45936374T	FYCO1	NM_024513.4(FYCO1):c.4040+74G>A	noncoding	Benign
3	45936407	T	C	T45936407C	FYCO1	NM_024513.4(FYCO1):c.4040+41A>G	noncoding	Benign
3	45936651	G	T	G45936651T	FYCO1	NM_024513.4(FYCO1):c.3945-108C>A	noncoding	Benign
3	45954991	G	A	G45954991A	FYCO1	NM_024513.4(FYCO1):c.3944+258C>T	noncoding	Benign
3	45955009	A	G	A45955009G	FYCO1	NM_024513.4(FYCO1):c.3944+240T>C	noncoding	Benign
3	45955027	T	G	T45955027G	FYCO1	NM_024513.4(FYCO1):c.3944+222A>C	noncoding	Benign
3	45955091	G	A	G45955091A	FYCO1	NM_024513.4(FYCO1):c.3944+158C>T	noncoding	Benign
3	45955097	C	T	C45955097T	FYCO1	NM_024513.4(FYCO1):c.3944+152G>A	noncoding	Benign
3	45955231	G	C	G45955231C	FYCO1	NM_024513.4(FYCO1):c.3944+18C>G	noncoding	Benign
3	45959236	T	G	T45959236G	FYCO1	NM_024513.4(FYCO1):c.3587+157A>C	noncoding	Benign
3	45959571	G	A	G45959571A	FYCO1	NM_024513.4(FYCO1):c.3438-29C>T	noncoding	Benign
3	45959735	G	A	G45959735A	FYCO1	NM_024513.4(FYCO1):c.3438-193C>T	noncoding	Benign
3	45962004	T	C	T45962004C	FYCO1	NM_024513.4(FYCO1):c.3437+221A>G	noncoding	Benign
3	45962045	G	A	G45962045A	FYCO1	NM_024513.4(FYCO1):c.3437+180C>T	noncoding	Benign
3	45962340	T	A	T45962340A	FYCO1	NM_024513.4(FYCO1):c.3322A>T:p.Lys1108Ter	coding	Pathogenic
3	45962355	G	A	G45962355A	FYCO1	NM_024513.4(FYCO1):c.3307C>T:p.Gln1103Ter	coding	Pathogenic
3	45964666	A	G	A45964666G	FYCO1	NM_024513.4(FYCO1):c.3151-212T>C	noncoding	Benign
3	45964747	A	G	A45964747G	FYCO1	NM_024513.4(FYCO1):c.3150+286T>C	noncoding	Benign
3	45964777	C	T	C45964777T	FYCO1	NM_024513.4(FYCO1):c.3150+256G>A	noncoding	Benign
3	45964793	C	T	C45964793T	FYCO1	NM_024513.4(FYCO1):c.3150+240G>A	noncoding	Benign
3	45964849	C	G	C45964849G	FYCO1	NM_024513.4(FYCO1):c.3150+184G>C	noncoding	Benign
3	45965996	G	A	G45965996A	FYCO1	NM_024513.4(FYCO1):c.3057+281C>T	noncoding	Benign
3	45966210	T	C	T45966210C	FYCO1	NM_024513.4(FYCO1):c.3057+67A>G	noncoding	Benign
3	45966712	C	T	C45966712T	FYCO1	NM_024513.4(FYCO1):c.2622G>A:p.Gln874=	coding	Benign
3	45966722	C	T	C45966722T	FYCO1	NM_024513.4(FYCO1):c.2612G>A:p.Arg871Gln	coding	Benign/Likely_benign
3	45967328	C	T	C45967328T	FYCO1	NM_024513.4(FYCO1):c.2006G>A:p.Ser669Asn	coding	Benign/Likely_benign
3	45967349	G	A	G45967349A	FYCO1	NM_024513.4(FYCO1):c.1985C>T:p.Ser662Phe	coding	Benign/Likely_benign
3	45968511	G	A	G45968511A	FYCO1	NM_024513.4(FYCO1):c.823C>T:p.Gln275Ter	coding	Pathogenic
3	45969577	C	G	C45969577G	FYCO1	NM_024513.4(FYCO1):c.630+98G>C	noncoding	Benign
3	45969730	C	T	C45969730T	FYCO1	NM_024513.4(FYCO1):c.575G>A:p.Trp192Ter	coding	Pathogenic
3	45969944	A	G	A45969944G	FYCO1	NM_024513.4(FYCO1):c.540-179T>C	noncoding	Benign
3	45973053	T	G	T45973053G	FYCO1	NM_024513.4(FYCO1):c.539+35A>C	noncoding	Benign
3	45973103	C	T	C45973103T	FYCO1	NM_024513.4(FYCO1):c.524G>A:p.Trp175Ter	coding	Pathogenic
3	45973551	T	C	T45973551C	FYCO1	NM_024513.4(FYCO1):c.396-320A>G	noncoding	Benign
3	45974972	G	A	G45974972A	FYCO1	NM_024513.4(FYCO1):c.395+267C>T	noncoding	Benign
3	45975107	T	G	T45975107G	FYCO1	NM_024513.4(FYCO1):c.395+132A>C	noncoding	Benign
3	45975452	C	T	C45975452T	FYCO1	NM_024513.4(FYCO1):c.289-107G>A	noncoding	Benign
3	45979960	T	G	T45979960G	FYCO1	NM_024513.4(FYCO1):c.163-130A>C	noncoding	Benign
3	45980067	T	G	T45980067G	FYCO1	NM_024513.4(FYCO1):c.163-237A>C	noncoding	Benign
3	45981272	G	A	G45981272A	FYCO1	NM_024513.4(FYCO1):c.162+298C>T	noncoding	Benign
3	45981341	G	A	G45981341A	FYCO1	NM_024513.4(FYCO1):c.162+229C>T	noncoding	Benign
3	45984767	G	A	G45984767A	FYCO1	NM_024513.4(FYCO1):c.55+89C>T	noncoding	Benign
3	45985149	G	T	G45985149T	FYCO1	NM_024513.4(FYCO1):c.-112-127C>A	noncoding	Benign
3	45985207	C	A	C45985207A	FYCO1	NM_024513.4(FYCO1):c.-112-185G>T	noncoding	Benign
3	46370771	C	T	C46370771T	CCR5	NM_000579.4(CCR5):c.-229C>T	noncoding	Benign
3	46577270	A	C	A46577270C	TDGF1	NM_001174136.2(TDGF1):c.-13-1825A>C	noncoding	Benign
3	46577748	T	A	T46577748A	TDGF1	NM_003212.3(TDGF1):c.-222T>A	noncoding	Benign
3	46578042	C	T	C46578042T	TDGF1	NM_003212.4(TDGF1):c.35+38C>T	noncoding	Benign
3	46578784	T	A	T46578784A	TDGF1	NM_003212.4(TDGF1):c.36-311T>A	noncoding	Benign
3	46579124	T	C	T46579124C	TDGF1	NM_003212.4(TDGF1):c.65T>C:p.Val22Ala	coding	Benign
3	46579270	T	G	T46579270G	TDGF1	NM_003212.4(TDGF1):c.127T>G:p.Tyr43Asp	coding	Benign
3	46579311	G	A	G46579311A	TDGF1	NM_003212.4(TDGF1):c.168G>A:p.Glu56=	coding	Benign
3	46579409	T	A	T46579409A	TDGF1	NM_003212.4(TDGF1):c.223+43T>A	noncoding	Benign
3	46579633	A	T	A46579633T	TDGF1	NM_003212.4(TDGF1):c.224-106A>T	noncoding	Benign
3	46579725	T	C	T46579725C	TDGF1	NM_003212.4(TDGF1):c.224-14T>C	noncoding	Benign
3	46580967	G	A	G46580967A	TDGF1	NM_003212.4(TDGF1):c.449-165G>A	noncoding	Benign
3	46701033	C	A	C46701033A	TMIE	NM_001370524.1(TMIE):c.-66-4757C>A	noncoding	Benign
3	46701257	G	A	G46701257A	TMIE	NM_001370524.1(TMIE):c.-66-4533G>A	noncoding	Benign
3	46701258	C	A	C46701258A	TMIE	NM_001370524.1(TMIE):c.-66-4532C>A	noncoding	Benign
3	46701259	A	T	A46701259T	TMIE	NM_001370524.1(TMIE):c.-66-4531A>T	noncoding	Benign
3	46705485	G	A	G46705485A	TMIE	NM_147196.3(TMIE):c.94-305G>A	noncoding	Benign
3	46705499	T	C	T46705499C	TMIE	NM_147196.3(TMIE):c.94-291T>C	noncoding	Benign
3	46705667	A	T	A46705667T	TMIE	NM_147196.3(TMIE):c.94-123A>T	noncoding	Benign
3	46705702	T	G	T46705702G	TMIE	NM_147196.3(TMIE):c.94-88T>G	noncoding	Benign
3	46705759	C	G	C46705759G	TMIE	NM_147196.3(TMIE):c.94-31C>G	noncoding	Benign
3	46705765	C	T	C46705765T	TMIE	NM_147196.3(TMIE):c.94-25C>T	noncoding	Benign
3	46708966	T	C	T46708966C	TMIE	NM_147196.3(TMIE):c.212-160T>C	noncoding	Benign
3	46709063	G	A	G46709063A	TMIE	NM_147196.3(TMIE):c.212-63G>A	noncoding	Benign
3	46709739	C	T	C46709739T	TMIE	NM_147196.3(TMIE):c.*51C>T	noncoding	Benign/Likely_benign
3	46858191	C	A	C46858191A	MYL3	NM_000258.3(MYL3):c.*13+40G>T	noncoding	Benign
3	46858302	A	G	A46858302G	MYL3	NM_000258.3(MYL3):c.560-30T>C	noncoding	Benign
3	46858561	G	A	G46858561A	MYL3	NM_000258.3(MYL3):c.482-100C>T	noncoding	Benign
3	46860620	A	C	A46860620C	MYL3	NM_000258.3(MYL3):c.307+56T>G	noncoding	Benign
3	46860660	C	T	C46860660T	MYL3	NM_000258.3(MYL3):c.307+16G>A	noncoding	Benign/Likely_benign
3	46860734	C	A	C46860734A	MYL3	NM_000258.3(MYL3):c.249G>T:p.Leu83=	coding	Benign
3	46860737	C	T	C46860737T	MYL3	NM_000258.3(MYL3):c.246G>A:p.Ala82=	coding	Benign/Likely_benign
3	46863480	G	A	G46863480A	MYL3	NM_000258.2(MYL3):c.-90C>T	noncoding	Benign/Likely_benign
3	46894037	G	T	G46894037T	PTH1R	NM_000316.3(PTH1R):c.178+28G>T	noncoding	Benign
3	46894191	C	T	C46894191T	PTH1R	NM_000316.3(PTH1R):c.178+182C>T	noncoding	Benign
3	46894244	A	C	A46894244C	PTH1R	NM_000316.3(PTH1R):c.178+235A>C	noncoding	Benign
3	46895901	A	G	A46895901G	PTH1R	NM_000316.3(PTH1R):c.313+32A>G	noncoding	Benign/Likely_benign
3	46898193	G	A	G46898193A	PTH1R	NM_000316.3(PTH1R):c.543+1G>A	coding	Pathogenic
3	46898660	A	G	A46898660G	PTH1R	NM_000316.3(PTH1R):c.639-2A>G	noncoding	Pathogenic
3	46899626	A	G	A46899626G	PTH1R	NM_000316.3(PTH1R):c.988+170A>G	noncoding	Benign
3	46901114	C	T	C46901114T	PTH1R	NM_000316.3(PTH1R):c.1049+29C>T	noncoding	Pathogenic
3	46901538	T	C	T46901538C	PTH1R	NM_000316.3(PTH1R):c.1116+58T>C	noncoding	Benign
3	46901850	C	T	C46901850T	PTH1R	NM_000316.3(PTH1R):c.1201C>T:p.Gln401Ter	coding	Pathogenic
3	46902467	C	T	C46902467T	PTH1R	NM_000316.3(PTH1R):c.1212-59C>T	noncoding	Benign
3	46902508	C	T	C46902508T	PTH1R	NM_000316.3(PTH1R):c.1212-18C>T	noncoding	Benign
3	46902684	C	T	C46902684T	PTH1R	NM_000316.3(PTH1R):c.1353+17C>T	noncoding	Benign
3	46902729	C	T	C46902729T	PTH1R	NM_000316.3(PTH1R):c.1354-20C>T	noncoding	Benign
3	46902878	T	C	T46902878C	PTH1R	NM_000316.3(PTH1R):c.1395+88T>C	noncoding	Benign
3	46979345	A	T	A46979345T	NBEAL2	NM_144716.6(CCDC12):c.-72-2502T>A	noncoding	Benign
3	46979533	A	G	A46979533G	NBEAL2	NM_144716.6(CCDC12):c.-73+2399T>C	noncoding	Benign
3	46979634	A	G	A46979634G	NBEAL2	NM_144716.6(CCDC12):c.-73+2298T>C	noncoding	Benign
3	46989287	C	T	C46989287T	NBEAL2	NM_015175.3(NBEAL2):c.379C>T:p.Arg127Ter	coding	Pathogenic
3	46989747	C	G	C46989747G	NBEAL2	NM_015175.3(NBEAL2):c.556+154C>G	noncoding	Benign
3	46994135	G	A	G46994135A	NBEAL2	NM_015175.3(NBEAL2):c.1197+115G>A	noncoding	Benign
3	46994245	T	G	T46994245G	NBEAL2	NM_015175.3(NBEAL2):c.1198-210T>G	noncoding	Benign
3	47000671	A	G	A47000671G	NBEAL2	NM_015175.3(NBEAL2):c.4305+267A>G	noncoding	Benign
3	47001223	G	A	G47001223A	NBEAL2	NM_015175.3(NBEAL2):c.4484+44G>A	noncoding	Benign
3	47005848	G	C	G47005848C	NBEAL2	NM_015175.3(NBEAL2):c.6801+1G>C	coding	Pathogenic
3	47005883	G	A	G47005883A	NBEAL2	NM_015175.3(NBEAL2):c.6801+36G>A	noncoding	Benign
3	47006962	T	G	T47006962G	NBEAL2	NM_015175.3(NBEAL2):c.7135-104T>G	noncoding	Benign
3	47007481	T	C	T47007481C	NBEAL2	NM_015175.3(NBEAL2):c.7335-44T>C	noncoding	Benign
3	47017833	C	T	C47017833T	SETD2	NM_014159.7(SETD2):c.7432-94G>A	noncoding	Benign
3	47019693	G	A	G47019693A	SETD2	NM_014159.7(SETD2):c.7431+67C>T	noncoding	Benign
3	47019963	C	T	C47019963T	SETD2	NM_014159.7(SETD2):c.7351-123G>A	noncoding	Benign
3	47037622	G	A	G47037622A	SETD2	NM_014159.7(SETD2):c.7350+44C>T	noncoding	Benign
3	47042635	G	A	G47042635A	SETD2	NM_014159.7(SETD2):c.7164C>T:p.Thr2388=	coding	Benign/Likely_benign
3	47046347	T	A	T47046347A	SETD2	NM_014159.7(SETD2):c.7098+140A>T	noncoding	Benign
3	47046359	A	G	A47046359G	SETD2	NM_014159.7(SETD2):c.7098+128T>C	noncoding	Benign
3	47046522	T	C	T47046522C	SETD2	NM_014159.7(SETD2):c.7063A>G:p.Ile2355Val	coding	Benign
3	47056901	T	C	T47056901C	SETD2	NM_014159.7(SETD2):c.6883A>G:p.Ile2295Val	coding	Benign
3	47057060	C	T	C47057060T	SETD2	NM_014159.7(SETD2):c.6724G>A:p.Ala2242Thr	coding	Benign
3	47061886	C	T	C47061886T	SETD2	NM_014159.7(SETD2):c.6293+277G>A	noncoding	Benign
3	47066840	C	T	C47066840T	SETD2	NM_014159.7(SETD2):c.6109+230G>A	noncoding	Benign
3	47066871	G	A	G47066871A	SETD2	NM_014159.7(SETD2):c.6109+199C>T	noncoding	Benign
3	47067025	G	A	G47067025A	SETD2	NM_014159.7(SETD2):c.6109+45C>T	noncoding	Benign
3	47067110	A	T	A47067110T	SETD2	NM_014159.7(SETD2):c.6069T>A:p.Tyr2023Ter	coding	Pathogenic
3	47067164	T	C	T47067164C	SETD2	NM_014159.7(SETD2):c.6061-46A>G	noncoding	Benign
3	47083741	C	T	C47083741T	SETD2	NM_014159.7(SETD2):c.6039G>A:p.Leu2013=	coding	Benign
3	47084215	G	T	G47084215T	SETD2	NM_014159.7(SETD2):c.5565C>A:p.Leu1855=	coding	Benign
3	47086315	C	G	C47086315G	SETD2	NM_014159.7(SETD2):c.5278-1G>C	coding	Pathogenic
3	47088154	C	A	C47088154A	SETD2	NM_014159.7(SETD2):c.5236G>T:p.Glu1746Ter	coding	Pathogenic
3	47088171	C	T	C47088171T	SETD2	NM_014159.7(SETD2):c.5219G>A:p.Arg1740Gln	coding	Pathogenic
3	47088267	T	C	T47088267C	SETD2	NM_014159.7(SETD2):c.5143-20A>G	noncoding	Benign/Likely_benign
3	47088413	C	T	C47088413T	SETD2	NM_014159.7(SETD2):c.5143-166G>A	noncoding	Benign
3	47097706	G	C	G47097706C	SETD2	NM_014159.7(SETD2):c.5142+249C>G	noncoding	Benign
3	47106044	G	A	G47106044A	SETD2	NM_014159.7(SETD2):c.4792C>T:p.Arg1598Ter	coding	Pathogenic
3	47116723	G	A	G47116723A	SETD2	NM_014159.7(SETD2):c.4486C>T:p.Arg1496Ter	coding	Pathogenic
3	47116766	A	C	A47116766C	SETD2	NM_014159.7(SETD2):c.4455-12T>G	noncoding	Benign
3	47120261	G	A	G47120261A	SETD2	NM_014159.7(SETD2):c.4375C>T:p.Arg1459Ter	coding	Pathogenic
3	47120343	T	C	T47120343C	SETD2	NM_014159.7(SETD2):c.4293A>G:p.Val1431=	coding	Benign
3	47120449	T	C	T47120449C	SETD2	NM_014159.7(SETD2):c.4187A>G:p.Asn1396Ser	coding	Benign
3	47120456	C	A	C47120456A	SETD2	NM_014159.7(SETD2):c.4180G>T:p.Glu1394Ter	coding	Pathogenic
3	47120576	C	T	C47120576T	SETD2	NM_014159.7(SETD2):c.4060G>A:p.Asp1354Asn	coding	Benign/Likely_benign
3	47120888	G	C	G47120888C	SETD2	NM_014159.7(SETD2):c.3748C>G:p.His1250Asp	coding	Benign
3	47121022	T	C	T47121022C	SETD2	NM_014159.7(SETD2):c.3614A>G:p.Tyr1205Cys	coding	Benign
3	47121214	G	A	G47121214A	SETD2	NM_014159.7(SETD2):c.3422C>T:p.Pro1141Leu	coding	Benign/Likely_benign
3	47121349	T	C	T47121349C	SETD2	NM_014159.7(SETD2):c.3287A>G:p.His1096Arg	coding	Benign
3	47121365	T	G	T47121365G	SETD2	NM_014159.7(SETD2):c.3271A>C:p.Ser1091Arg	coding	Benign
3	47121396	C	T	C47121396T	SETD2	NM_014159.7(SETD2):c.3240G>A:p.Met1080Ile	coding	Benign
3	47121407	T	C	T47121407C	SETD2	NM_014159.7(SETD2):c.3229A>G:p.Thr1077Ala	coding	Benign/Likely_benign
3	47121539	T	C	T47121539C	SETD2	NM_014159.7(SETD2):c.3097A>G:p.Thr1033Ala	coding	Benign/Likely_benign
3	47121724	G	C	G47121724C	SETD2	NM_014159.7(SETD2):c.2912C>G:p.Pro971Arg	coding	Benign
3	47122324	G	C	G47122324C	SETD2	NM_014159.7(SETD2):c.2312C>G:p.Ser771Cys	coding	Benign
3	47122721	C	T	C47122721T	SETD2	NM_014159.7(SETD2):c.1915G>A:p.Glu639Lys	coding	Benign
3	47122786	G	A	G47122786A	SETD2	NM_014159.7(SETD2):c.1850C>T:p.Pro617Leu	coding	Benign
3	47122902	T	A	T47122902A	SETD2	NM_014159.7(SETD2):c.1734A>T:p.Leu578Phe	coding	Benign/Likely_benign
3	47123014	C	T	C47123014T	SETD2	NM_014159.7(SETD2):c.1622G>A:p.Arg541Gln	coding	Benign
3	47123221	C	T	C47123221T	SETD2	NM_014159.7(SETD2):c.1415G>A:p.Arg472His	coding	Benign/Likely_benign
3	47123233	G	A	G47123233A	SETD2	NM_014159.7(SETD2):c.1403C>T:p.Thr468Ile	coding	Benign
3	47123534	G	A	G47123534A	SETD2	NM_014159.7(SETD2):c.1102C>T:p.Arg368Ter	coding	Pathogenic
3	47123986	G	T	G47123986T	SETD2	NM_014159.7(SETD2):c.650C>A:p.Thr217Lys	coding	Benign
3	47124046	G	A	G47124046A	SETD2	NM_014159.7(SETD2):c.590C>T:p.Ala197Val	coding	Benign/Likely_benign
3	47126632	G	A	G47126632A	SETD2	NM_014159.7(SETD2):c.87+16C>T	noncoding	Benign
3	47405735	C	T	C47405735T	PTPN23	NM_015466.4(PTPN23):c.365-14C>T	noncoding	Benign
3	47405902	C	T	C47405902T	PTPN23	NM_015466.4(PTPN23):c.415-13C>T	noncoding	Benign
3	47405999	G	A	G47405999A	PTPN23	NM_015466.4(PTPN23):c.499G>A:p.Val167Ile	coding	Benign
3	47406056	C	T	C47406056T	PTPN23	NM_015466.4(PTPN23):c.546+10C>T	noncoding	Benign
3	47406413	C	T	C47406413T	PTPN23	NM_015466.4(PTPN23):c.627+8C>T	noncoding	Benign
3	47406546	C	T	C47406546T	PTPN23	NM_015466.4(PTPN23):c.693C>T:p.Gly231=	coding	Benign
3	47406683	C	T	C47406683T	PTPN23	NM_015466.4(PTPN23):c.760-20C>T	noncoding	Benign
3	47407335	G	A	G47407335A	PTPN23	NM_015466.4(PTPN23):c.891G>A:p.Ala297=	coding	Benign
3	47407568	T	C	T47407568C	PTPN23	NM_015466.4(PTPN23):c.987T>C:p.Thr329=	coding	Benign
3	47407574	G	A	G47407574A	PTPN23	NM_015466.4(PTPN23):c.993G>A:p.Gln331=	coding	Benign
3	47407682	T	C	T47407682C	PTPN23	NM_015466.4(PTPN23):c.1004-15T>C	noncoding	Benign
3	47407806	G	A	G47407806A	PTPN23	NM_015466.4(PTPN23):c.1113G>A:p.Leu371=	coding	Benign
3	47408832	T	C	T47408832C	PTPN23	NM_015466.4(PTPN23):c.1387T>C:p.Leu463=	coding	Benign
3	47409173	C	T	C47409173T	PTPN23	NM_015466.4(PTPN23):c.1653C>T:p.Ala551=	coding	Benign
3	47409745	A	C	A47409745C	PTPN23	NM_015466.4(PTPN23):c.2040A>C:p.Ala680=	coding	Benign
3	47409773	C	T	C47409773T	PTPN23	NM_015466.4(PTPN23):c.2068C>T:p.Leu690=	coding	Benign
3	47409921	C	T	C47409921T	PTPN23	NM_015466.4(PTPN23):c.2130-7C>T	noncoding	Benign
3	47409934	G	A	G47409934A	PTPN23	NM_015466.4(PTPN23):c.2136G>A:p.Leu712=	coding	Benign
3	47409946	G	A	G47409946A	PTPN23	NM_015466.4(PTPN23):c.2148G>A:p.Pro716=	coding	Benign/Likely_benign
3	47410148	C	T	C47410148T	PTPN23	NM_015466.4(PTPN23):c.2350C>T:p.Pro784Ser	coding	Benign
3	47410173	C	T	C47410173T	PTPN23	NM_015466.4(PTPN23):c.2375C>T:p.Pro792Leu	coding	Benign
3	47410288	G	T	G47410288T	PTPN23	NM_015466.4(PTPN23):c.2490G>T:p.Glu830Asp	coding	Benign
3	47410597	G	A	G47410597A	PTPN23	NM_015466.4(PTPN23):c.2799G>A:p.Pro933=	coding	Benign
3	47410628	G	A	G47410628A	PTPN23	NM_015466.4(PTPN23):c.2830G>A:p.Ala944Thr	coding	Benign
3	47411093	C	T	C47411093T	PTPN23	NM_015466.4(PTPN23):c.3295C>T:p.Pro1099Ser	coding	Benign
3	47411096	C	T	C47411096T	PTPN23	NM_015466.4(PTPN23):c.3298C>T:p.Arg1100Cys	coding	Benign
3	47411155	G	A	G47411155A	PTPN23	NM_015466.4(PTPN23):c.3357G>A:p.Leu1119=	coding	Benign
3	47411227	C	T	C47411227T	PTPN23	NM_015466.4(PTPN23):c.3429C>T:p.Pro1143=	coding	Benign
3	47411296	G	A	G47411296A	PTPN23	NM_015466.4(PTPN23):c.3498G>A:p.Glu1166=	coding	Benign
3	47411343	G	A	G47411343A	PTPN23	NM_015466.4(PTPN23):c.3545G>A:p.Arg1182Gln	coding	Benign/Likely_benign
3	47411572	G	A	G47411572A	PTPN23	NM_015466.4(PTPN23):c.3774G>A:p.Pro1258=	coding	Benign
3	47411850	C	T	C47411850T	PTPN23	NM_015466.4(PTPN23):c.3956C>T:p.Ala1319Val	coding	Benign
3	47412126	G	A	G47412126A	PTPN23	NM_015466.4(PTPN23):c.4106G>A:p.Arg1369His	coding	Benign
3	47412278	C	T	C47412278T	PTPN23	NM_015466.4(PTPN23):c.4179-5C>T	noncoding	Benign
3	47412556	G	A	G47412556A	PTPN23	NM_015466.4(PTPN23):c.4360G>A:p.Glu1454Lys	coding	Benign
3	47412850	C	A	C47412850A	PTPN23	NM_015466.4(PTPN23):c.4576C>A:p.Pro1526Thr	coding	Benign
3	47412852	C	A	C47412852A	PTPN23	NM_015466.4(PTPN23):c.4578C>A:p.Pro1526=	coding	Benign
3	47412888	C	G	C47412888G	PTPN23	NM_015466.4(PTPN23):c.4614C>G:p.Thr1538=	coding	Benign
3	47412909	G	A	G47412909A	PTPN23	NM_015466.4(PTPN23):c.4635G>A:p.Pro1545=	coding	Benign
3	47413184	G	A	G47413184A	PTPN23	NM_015466.4(PTPN23):c.4910G>A:p.Ter1637=	coding	Benign
3	47848238	G	A	G47848238A	DHX30	NM_138615.3(DHX30):c.2345G>A:p.Arg782Gln	coding	Pathogenic
3	47849546	C	T	C47849546T	DHX30	NM_138615.3(DHX30):c.3183C>T:p.Thr1061=	coding	Benign
3	48446391	G	C	G48446391C	ATRIP	Single_allele	noncoding	Benign
3	48446745	C	G	C48446745G	ATRIP	NM_130384.3(ATRIP):c.-101C>G	noncoding	Benign
3	48446788	G	C	G48446788C	ATRIP	NM_130384.3(ATRIP):c.-58G>C	noncoding	Benign
3	48450019	T	A	T48450019A	ATRIP	NM_130384.3(ATRIP):c.248-18T>A	noncoding	Benign
3	48457306	C	T	C48457306T	ATRIP	NM_130384.3(ATRIP):c.719C>T:p.Pro240Leu	coding	Benign
3	48457418	T	G	T48457418G	ATRIP	NM_130384.3(ATRIP):c.829+2T>G	noncoding	Pathogenic
3	48464432	T	G	T48464432G	ATRIP	NM_130384.3(ATRIP):c.1975-150T>G	noncoding	Benign
3	48464819	C	A	C48464819A	ATRIP	NM_130384.3(ATRIP):c.2056-12C>A	noncoding	Benign
3	48464823	T	C	T48464823C	ATRIP	NM_130384.3(ATRIP):c.2056-8T>C	noncoding	Benign
3	48467012	G	A	G48467012A	TREX1	NM_033629.6(TREX1):c.357G>A:p.Trp119Ter	coding	Pathogenic
3	48467058	C	T	C48467058T	TREX1	NM_033629.6(TREX1):c.403C>T:p.Gln135Ter	coding	Pathogenic
3	48467145	C	T	C48467145T	TREX1	NM_033629.6(TREX1):c.490C>T:p.Arg164Ter	coding	Pathogenic/Likely_pathogenic
3	48467159	C	G	C48467159G	TREX1	NM_033629.6(TREX1):c.504C>G:p.Pro168=	coding	Benign
3	48467534	G	C	G48467534C	TREX1	NM_033629.6(TREX1):c.879G>C:p.Leu293=	coding	Benign
3	48564798	G	A	G48564798A	COL7A1	NM_000094.4(COL7A1):c.8803C>T:p.Gln2935Ter	coding	Pathogenic
3	48565145	C	A	C48565145A	COL7A1	NM_000094.4(COL7A1):c.8584G>T:p.Glu2862Ter	coding	Pathogenic
3	48565157	A	G	A48565157G	COL7A1	NM_000094.4(COL7A1):c.8572T>C:p.Tyr2858His	coding	Pathogenic
3	48565480	A	C	A48565480C	COL7A1	NM_000094.4(COL7A1):c.8457T>G:p.Tyr2819Ter	coding	Pathogenic
3	48565674	G	T	G48565674T	COL7A1	NM_000094.4(COL7A1):c.8408-6C>A	noncoding	Benign
3	48566334	A	G	A48566334G	COL7A1	NM_000094.4(COL7A1):c.8359-19T>C	noncoding	Benign
3	48566545	C	T	C48566545T	COL7A1	NM_000094.4(COL7A1):c.8323G>A:p.Gly2775Ser	coding	Pathogenic
3	48566626	G	A	G48566626A	COL7A1	NM_000094.4(COL7A1):c.8304+34C>T	noncoding	Benign
3	48566659	C	T	C48566659T	COL7A1	NM_000094.4(COL7A1):c.8304+1G>A	noncoding	Pathogenic
3	48566662	G	A	G48566662A	COL7A1	NM_000094.4(COL7A1):c.8302C>T:p.Gln2768Ter	coding	Pathogenic
3	48566924	C	G	C48566924G	COL7A1	NM_000094.4(COL7A1):c.8209G>C:p.Gly2737Arg	coding	Pathogenic
3	48566968	C	A	C48566968A	COL7A1	NM_000094.4(COL7A1):c.8165G>T:p.Gly2722Val	coding	Pathogenic
3	48566968	C	T	C48566968T	COL7A1	NM_000094.4(COL7A1):c.8165G>A:p.Gly2722Asp	coding	Pathogenic
3	48566995	C	T	C48566995T	COL7A1	NM_000094.4(COL7A1):c.8138G>A:p.Gly2713Asp	coding	Pathogenic
3	48567022	C	T	C48567022T	COL7A1	NM_000094.4(COL7A1):c.8111G>A:p.Gly2704Glu	coding	Pathogenic
3	48567127	C	T	C48567127T	COL7A1	NM_000094.4(COL7A1):c.8109+1G>A	noncoding	Pathogenic
3	48567172	C	T	C48567172T	COL7A1	NM_000094.4(COL7A1):c.8065G>A:p.Gly2689Arg	coding	Pathogenic
3	48567582	C	T	C48567582T	COL7A1	NM_000094.4(COL7A1):c.8038G>A:p.Gly2680Ser	coding	Pathogenic
3	48567615	G	A	G48567615A	COL7A1	NM_000094.4(COL7A1):c.8005C>T:p.Gln2669Ter	coding	Pathogenic
3	48567736	C	T	C48567736T	COL7A1	NM_000094.4(COL7A1):c.7957G>A:p.Gly2653Arg	coding	Pathogenic/Likely_pathogenic
3	48567764	C	G	C48567764G	COL7A1	NM_000094.4(COL7A1):c.7930-1G>C	coding	Pathogenic
3	48567782	G	C	G48567782C	COL7A1	NM_000094.4(COL7A1):c.7930-19C>G	noncoding	Benign
3	48567836	A	G	A48567836G	COL7A1	NM_000094.4(COL7A1):c.7929+2T>C	noncoding	Pathogenic
3	48567882	C	G	C48567882G	COL7A1	NM_000094.4(COL7A1):c.7885G>C:p.Gly2629Arg	coding	Pathogenic
3	48568089	C	G	C48568089G	COL7A1	NM_000094.4(COL7A1):c.7875+1G>C	noncoding	Pathogenic
3	48568101	G	A	G48568101A	COL7A1	NM_000094.4(COL7A1):c.7864C>T:p.Arg2622Trp	coding	Pathogenic/Likely_pathogenic
3	48568172	T	C	T48568172C	COL7A1	NM_000094.4(COL7A1):c.7795-2A>G	noncoding	Pathogenic
3	48568533	C	T	C48568533T	COL7A1	NM_000094.4(COL7A1):c.7760G>A:p.Gly2587Asp	coding	Pathogenic
3	48568632	G	T	G48568632T	COL7A1	NM_000094.4(COL7A1):c.7759-98C>A	noncoding	Benign
3	48568804	G	A	G48568804A	COL7A1	NM_000094.4(COL7A1):c.7738C>T:p.Arg2580Cys	coding	Pathogenic
3	48569375	C	G	C48569375G	COL7A1	NM_000094.4(COL7A1):c.7686G>C:p.Lys2562Asn	coding	Pathogenic
3	48569410	C	G	C48569410G	COL7A1	NM_000094.4(COL7A1):c.7651G>C:p.Gly2551Arg	coding	Pathogenic
3	48569440	G	A	G48569440A	COL7A1	NM_000094.4(COL7A1):c.7621C>T:p.Arg2541Ter	coding	Pathogenic/Likely_pathogenic
3	48569572	C	A	C48569572A	COL7A1	NM_000094.4(COL7A1):c.7614+20G>T	noncoding	Benign
3	48569647	C	A	C48569647A	COL7A1	NM_000094.4(COL7A1):c.7559G>T:p.Gly2520Val	coding	Pathogenic
3	48569809	A	G	A48569809G	COL7A1	NM_000094.4(COL7A1):c.7522-49T>C	noncoding	Benign
3	48570145	G	A	G48570145A	COL7A1	NM_000094.4(COL7A1):c.7474C>T:p.Arg2492Ter	coding	Pathogenic
3	48570463	A	G	A48570463G	COL7A1	NM_000094.4(COL7A1):c.7380+2T>C	noncoding	Pathogenic
3	48570638	C	A	C48570638A	COL7A1	NM_000094.4(COL7A1):c.7344+1G>T	noncoding	Pathogenic/Likely_pathogenic
3	48570683	C	T	C48570683T	COL7A1	NM_000094.4(COL7A1):c.7300G>A:p.Gly2434Arg	coding	Pathogenic
3	48570700	C	A	C48570700A	COL7A1	NM_000094.4(COL7A1):c.7283G>T:p.Gly2428Val	coding	Pathogenic
3	48570860	C	T	C48570860T	COL7A1	NM_000094.4(COL7A1):c.7272+1G>A	noncoding	Pathogenic
3	48570863	G	A	G48570863A	COL7A1	NM_000094.4(COL7A1):c.7270C>T:p.Arg2424Trp	coding	Pathogenic
3	48570884	G	A	G48570884A	COL7A1	NM_000094.4(COL7A1):c.7249C>T:p.Gln2417Ter	coding	Pathogenic
3	48570886	C	A	C48570886A	COL7A1	NM_000094.4(COL7A1):c.7247G>T:p.Gly2416Val	coding	Pathogenic
3	48571073	T	C	T48571073C	COL7A1	NM_000094.4(COL7A1):c.7164+28A>G	noncoding	Benign
3	48571159	C	T	C48571159T	COL7A1	NM_000094.4(COL7A1):c.7106G>A:p.Gly2369Asp	coding	Pathogenic
3	48571238	C	T	C48571238T	COL7A1	NM_000094.4(COL7A1):c.7104+5G>A	noncoding	Pathogenic
3	48571250	C	T	C48571250T	COL7A1	NM_000094.4(COL7A1):c.7097G>A:p.Gly2366Asp	coding	Pathogenic
3	48572009	C	G	C48572009G	COL7A1	NM_000094.4(COL7A1):c.7060G>C:p.Gly2354Arg	coding	Pathogenic
3	48572018	C	T	C48572018T	COL7A1	NM_000094.4(COL7A1):c.7051G>A:p.Gly2351Arg	coding	Pathogenic
3	48572669	A	C	A48572669C	COL7A1	NM_000094.4(COL7A1):c.6900+2T>G	noncoding	Pathogenic
3	48572710	T	C	T48572710C	COL7A1	NM_000094.4(COL7A1):c.6861A>G:p.Gly2287=	coding	Pathogenic
3	48572725	C	G	C48572725G	COL7A1	NM_000094.4(COL7A1):c.6846G>C:p.Leu2282=	coding	Pathogenic
3	48572905	C	T	C48572905T	COL7A1	NM_000094.4(COL7A1):c.6788G>A:p.Gly2263Asp	coding	Pathogenic
3	48572915	C	G	C48572915G	COL7A1	NM_000094.4(COL7A1):c.6778G>C:p.Gly2260Arg	coding	Pathogenic
3	48572926	G	A	G48572926A	COL7A1	NM_000094.4(COL7A1):c.6767C>T:p.Pro2256Leu	coding	Pathogenic
3	48572932	C	T	C48572932T	COL7A1	NM_000094.4(COL7A1):c.6761G>A:p.Gly2254Glu	coding	Pathogenic
3	48573046	C	T	C48573046T	COL7A1	NM_000094.4(COL7A1):c.6725G>A:p.Gly2242Glu	coding	Pathogenic
3	48573074	G	A	G48573074A	COL7A1	NM_000094.4(COL7A1):c.6715-18C>T	noncoding	Benign
3	48573202	G	A	G48573202A	COL7A1	NM_000094.4(COL7A1):c.6686C>T:p.Pro2229Leu	coding	Pathogenic
3	48573218	C	A	C48573218A	COL7A1	NM_000094.4(COL7A1):c.6670G>T:p.Gly2224Ter	coding	Pathogenic
3	48573226	C	G	C48573226G	COL7A1	NM_000094.4(COL7A1):c.6662G>C:p.Gly2221Ala	coding	Pathogenic
3	48573492	T	C	T48573492C	COL7A1	NM_000094.4(COL7A1):c.6618+21A>G	noncoding	Benign
3	48573512	C	T	C48573512T	COL7A1	NM_000094.4(COL7A1):c.6618+1G>A	noncoding	Pathogenic
3	48573558	C	G	C48573558G	COL7A1	NM_000094.4(COL7A1):c.6574-1G>C	coding	Pathogenic
3	48573689	C	G	C48573689G	COL7A1	NM_000094.4(COL7A1):c.6573+1G>C	noncoding	Pathogenic
3	48573875	T	A	T48573875A	COL7A1	NM_000094.4(COL7A1):c.6517A>T:p.Arg2173Ter	coding	Pathogenic
3	48573884	G	A	G48573884A	COL7A1	NM_000094.4(COL7A1):c.6508C>T:p.Gln2170Ter	coding	Pathogenic
3	48574261	C	G	C48574261G	COL7A1	NM_000094.4(COL7A1):c.6501+1G>C	noncoding	Pathogenic
3	48574826	G	A	G48574826A	COL7A1	NM_000094.4(COL7A1):c.6319C>T:p.Gln2107Ter	coding	Pathogenic
3	48575038	G	A	G48575038A	COL7A1	NM_000094.4(COL7A1):c.6279+26C>T	noncoding	Benign
3	48575058	G	A	G48575058A	COL7A1	NM_000094.4(COL7A1):c.6279+6C>T	noncoding	Benign
3	48575108	C	T	C48575108T	COL7A1	NM_000094.4(COL7A1):c.6235G>A:p.Gly2079Arg	coding	Pathogenic
3	48575126	C	A	C48575126A	COL7A1	NM_000094.4(COL7A1):c.6217G>T:p.Gly2073Cys	coding	Pathogenic
3	48575170	C	T	C48575170T	COL7A1	NM_000094.4(COL7A1):c.6216+37G>A	noncoding	Benign
3	48575188	G	A	G48575188A	COL7A1	NM_000094.4(COL7A1):c.6216+19C>T	noncoding	Benign
3	48575202	C	A	C48575202A	COL7A1	NM_000094.4(COL7A1):c.6216+5G>T	noncoding	Pathogenic
3	48575208	T	C	T48575208C	COL7A1	NM_000094.4(COL7A1):c.6215A>G:p.Gln2072Arg	coding	Pathogenic
3	48575241	C	A	C48575241A	COL7A1	NM_000094.4(COL7A1):c.6182G>T:p.Gly2061Val	coding	Pathogenic
3	48575244	T	C	T48575244C	COL7A1	NM_000094.4(COL7A1):c.6181-2A>G	noncoding	Pathogenic
3	48575347	C	T	C48575347T	COL7A1	NM_000094.4(COL7A1):c.6172G>A:p.Gly2058Arg	coding	Pathogenic
3	48575373	C	T	C48575373T	COL7A1	NM_000094.4(COL7A1):c.6146G>A:p.Gly2049Glu	coding	Pathogenic
3	48575391	C	T	C48575391T	COL7A1	NM_000094.4(COL7A1):c.6128G>A:p.Gly2043Glu	coding	Pathogenic
3	48575400	C	T	C48575400T	COL7A1	NM_000094.4(COL7A1):c.6119G>A:p.Gly2040Asp	coding	Pathogenic
3	48575485	C	T	C48575485T	COL7A1	NM_000094.4(COL7A1):c.6034G>A:p.Gly2012Ser	coding	Pathogenic
3	48575496	C	T	C48575496T	COL7A1	NM_000094.4(COL7A1):c.6023G>A:p.Arg2008His	coding	Pathogenic/Likely_pathogenic
3	48575963	G	A	G48575963A	COL7A1	NM_000094.4(COL7A1):c.5821-61C>T	noncoding	Benign
3	48576399	C	T	C48576399T	COL7A1	NM_000094.4(COL7A1):c.5772+1G>A	noncoding	Pathogenic
3	48576401	T	C	T48576401C	COL7A1	NM_000094.4(COL7A1):c.5771A>G:p.Gln1924Arg	coding	Pathogenic
3	48576417	C	A	C48576417A	COL7A1	NM_000094.4(COL7A1):c.5755G>T:p.Gly1919Ter	coding	Pathogenic
3	48576417	C	T	C48576417T	COL7A1	NM_000094.4(COL7A1):c.5755G>A:p.Gly1919Arg	coding	Pathogenic
3	48576452	C	A	C48576452A	COL7A1	NM_000094.4(COL7A1):c.5737-17G>T	noncoding	Benign
3	48576977	G	C	G48576977C	COL7A1	NM_000094.4(COL7A1):c.5568+15C>G	noncoding	Benign
3	48578315	A	G	A48578315G	COL7A1	NM_000094.4(COL7A1):c.5532+6T>C	noncoding	Pathogenic
3	48578316	C	T	C48578316T	COL7A1	NM_000094.4(COL7A1):c.5532+5G>A	noncoding	Pathogenic
3	48578478	C	T	C48578478T	COL7A1	NM_000094.4(COL7A1):c.5462G>A:p.Gly1821Asp	coding	Pathogenic
3	48578491	G	A	G48578491A	COL7A1	NM_000094.4(COL7A1):c.5449C>T:p.Gln1817Ter	coding	Pathogenic
3	48578500	G	A	G48578500A	COL7A1	NM_000094.4(COL7A1):c.5440C>T:p.Arg1814Cys	coding	Pathogenic/Likely_pathogenic
3	48578858	G	A	G48578858A	COL7A1	NM_000094.4(COL7A1):c.5424+61C>T	noncoding	Benign
3	48578936	C	T	C48578936T	COL7A1	NM_000094.4(COL7A1):c.5407G>A:p.Gly1803Arg	coding	Pathogenic
3	48578953	C	T	C48578953T	COL7A1	NM_000094.4(COL7A1):c.5390G>A:p.Gly1797Asp	coding	Pathogenic
3	48579177	G	A	G48579177A	COL7A1	NM_000094.4(COL7A1):c.5388+20C>T	noncoding	Benign/Likely_benign
3	48579258	C	T	C48579258T	COL7A1	NM_000094.4(COL7A1):c.5327G>A:p.Gly1776Glu	coding	Pathogenic
3	48579267	C	A	C48579267A	COL7A1	NM_000094.4(COL7A1):c.5318G>T:p.Gly1773Val	coding	Pathogenic
3	48579271	G	A	G48579271A	COL7A1	NM_000094.4(COL7A1):c.5314C>T:p.Arg1772Trp	coding	Pathogenic/Likely_pathogenic
3	48579377	C	T	C48579377T	COL7A1	NM_000094.4(COL7A1):c.5299G>A:p.Gly1767Arg	coding	Pathogenic
3	48579389	G	A	G48579389A	COL7A1	NM_000094.4(COL7A1):c.5287C>T:p.Arg1763Ter	coding	Pathogenic
3	48579487	C	T	C48579487T	COL7A1	NM_000094.4(COL7A1):c.5264G>A:p.Gly1755Asp	coding	Pathogenic
3	48579569	G	A	G48579569A	COL7A1	NM_000094.4(COL7A1):c.5235+19C>T	noncoding	Benign
3	48579824	G	A	G48579824A	COL7A1	NM_000094.4(COL7A1):c.5125-10C>T	noncoding	Benign
3	48580048	C	A	C48580048A	COL7A1	NM_000094.4(COL7A1):c.5107G>T:p.Gly1703Ter	coding	Pathogenic
3	48580057	C	G	C48580057G	COL7A1	NM_000094.4(COL7A1):c.5098G>C:p.Gly1700Arg	coding	Pathogenic
3	48580881	C	A	C48580881A	COL7A1	NM_000094.4(COL7A1):c.4980+1G>T	noncoding	Pathogenic
3	48580881	C	G	C48580881G	COL7A1	NM_000094.4(COL7A1):c.4980+1G>C	noncoding	Pathogenic
3	48580897	G	A	G48580897A	COL7A1	NM_000094.4(COL7A1):c.4965C>T:p.Gly1655=	coding	Pathogenic
3	48581233	A	G	A48581233G	COL7A1	NM_000094.4(COL7A1):c.4899+27T>C	noncoding	Benign
3	48581359	G	A	G48581359A	COL7A1	NM_000094.4(COL7A1):c.4819-19C>T	noncoding	Benign
3	48581484	C	T	C48581484T	COL7A1	NM_000094.4(COL7A1):c.4783-1G>A	coding	Pathogenic
3	48581910	C	T	C48581910T	COL7A1	NM_000094.4(COL7A1):c.4668+1G>A	noncoding	Pathogenic
3	48582322	C	T	C48582322T	COL7A1	NM_000094.4(COL7A1):c.4635+1G>A	noncoding	Pathogenic
3	48582355	C	A	C48582355A	COL7A1	NM_000094.4(COL7A1):c.4603G>T:p.Glu1535Ter	coding	Pathogenic
3	48582489	G	A	G48582489A	COL7A1	NM_000094.4(COL7A1):c.4588C>T:p.Gln1530Ter	coding	Pathogenic
3	48583012	C	T	C48583012T	COL7A1	NM_000094.4(COL7A1):c.4518+1G>A	noncoding	Pathogenic
3	48583047	C	A	C48583047A	COL7A1	NM_000094.4(COL7A1):c.4484G>T:p.Gly1495Val	coding	Pathogenic
3	48583555	C	T	C48583555T	COL7A1	NM_000094.4(COL7A1):c.4401+1G>A	noncoding	Pathogenic
3	48583614	C	T	C48583614T	COL7A1	NM_000094.4(COL7A1):c.4343G>A:p.Gly1448Asp	coding	Pathogenic
3	48583633	G	T	G48583633T	COL7A1	NM_000094.4(COL7A1):c.4342-18C>A	noncoding	Benign
3	48584061	C	T	C48584061T	COL7A1	NM_000094.4(COL7A1):c.4198G>A:p.Gly1400Ser	coding	Pathogenic
3	48584297	C	A	C48584297A	COL7A1	NM_000094.4(COL7A1):c.4197+1G>T	noncoding	Pathogenic
3	48584348	C	T	C48584348T	COL7A1	NM_000094.4(COL7A1):c.4147G>A:p.Gly1383Arg	coding	Pathogenic
3	48584769	C	T	C48584769T	COL7A1	NM_000094.4(COL7A1):c.4012G>A:p.Gly1338Arg	coding	Pathogenic/Likely_pathogenic
3	48584910	C	T	C48584910T	COL7A1	NM_000094.4(COL7A1):c.4011G>A:p.Pro1337=	coding	Pathogenic/Likely_pathogenic
3	48584926	C	T	C48584926T	COL7A1	NM_000094.4(COL7A1):c.3995G>A:p.Gly1332Asp	coding	Pathogenic
3	48584959	C	A	C48584959A	COL7A1	NM_000094.4(COL7A1):c.3976-14G>T	noncoding	Benign
3	48585271	G	A	G48585271A	COL7A1	NM_000094.4(COL7A1):c.3895-155C>T	noncoding	Benign
3	48585556	C	T	C48585556T	COL7A1	NM_000094.4(COL7A1):c.3894+1G>A	noncoding	Pathogenic
3	48585924	G	A	G48585924A	COL7A1	NM_000094.4(COL7A1):c.3759+16C>T	noncoding	Benign
3	48585938	A	C	A48585938C	COL7A1	NM_000094.4(COL7A1):c.3759+2T>G	noncoding	Pathogenic
3	48585939	C	A	C48585939A	COL7A1	NM_000094.4(COL7A1):c.3759+1G>T	noncoding	Pathogenic
3	48586445	A	T	A48586445T	COL7A1	NM_000094.4(COL7A1):c.3437T>A:p.Leu1146Ter	coding	Pathogenic
3	48586588	G	T	G48586588T	COL7A1	NM_000094.4(COL7A1):c.3378C>A:p.Tyr1126Ter	coding	Pathogenic
3	48586672	G	C	G48586672C	COL7A1	NM_000094.4(COL7A1):c.3294C>G:p.Tyr1098Ter	coding	Pathogenic
3	48586690	C	G	C48586690G	COL7A1	NM_000094.4(COL7A1):c.3277-1G>C	coding	Pathogenic
3	48587199	G	A	G48587199A	COL7A1	NM_000094.4(COL7A1):c.3130C>T:p.Gln1044Ter	coding	Pathogenic
3	48587418	A	C	A48587418C	COL7A1	NM_000094.4(COL7A1):c.2992+2T>G	noncoding	Pathogenic
3	48587446	C	T	C48587446T	COL7A1	NM_000094.4(COL7A1):c.2966G>A:p.Trp989Ter	coding	Pathogenic
3	48587485	C	T	C48587485T	COL7A1	NM_000094.4(COL7A1):c.2927G>A:p.Trp976Ter	coding	Pathogenic
3	48587865	G	A	G48587865A	COL7A1	NM_000094.4(COL7A1):c.2785C>T:p.Gln929Ter	coding	Pathogenic
3	48587907	C	A	C48587907A	COL7A1	NM_000094.4(COL7A1):c.2743G>T:p.Glu915Ter	coding	Pathogenic
3	48587913	C	T	C48587913T	COL7A1	NM_000094.4(COL7A1):c.2737G>A:p.Gly913Arg	coding	Pathogenic
3	48587928	G	A	G48587928A	COL7A1	NM_000094.4(COL7A1):c.2722C>T:p.Gln908Ter	coding	Pathogenic
3	48588247	A	C	A48588247C	COL7A1	NM_000094.4(COL7A1):c.2710+35T>G	noncoding	Benign
3	48588404	G	C	G48588404C	COL7A1	NM_000094.4(COL7A1):c.2588C>G:p.Pro863Arg	coding	Pathogenic
3	48588602	C	T	C48588602T	COL7A1	NM_000094.4(COL7A1):c.2587+40G>A	noncoding	Pathogenic/Likely_pathogenic
3	48588614	G	A	G48588614A	COL7A1	NM_000094.4(COL7A1):c.2587+28C>T	noncoding	Benign
3	48588641	C	T	C48588641T	COL7A1	NM_000094.4(COL7A1):c.2587+1G>A	noncoding	Pathogenic/Likely_pathogenic
3	48588702	G	A	G48588702A	COL7A1	NM_000094.4(COL7A1):c.2527C>T:p.Arg843Ter	coding	Pathogenic
3	48588806	C	T	C48588806T	COL7A1	NM_000094.4(COL7A1):c.2441-18G>A	noncoding	Benign
3	48589627	T	C	T48589627C	COL7A1	NM_000094.4(COL7A1):c.2142A>G:p.Gly714=	coding	Pathogenic
3	48590219	G	A	G48590219A	COL7A1	NM_000094.4(COL7A1):c.2044C>T:p.Arg682Ter	coding	Pathogenic
3	48590528	G	A	G48590528A	COL7A1	NM_000094.4(COL7A1):c.1837C>T:p.Arg613Ter	coding	Pathogenic
3	48591494	G	A	G48591494A	COL7A1	NM_000094.4(COL7A1):c.1606C>T:p.Gln536Ter	coding	Pathogenic
3	48591673	C	T	C48591673T	COL7A1	NM_000094.4(COL7A1):c.1507G>A:p.Gly503Arg	coding	Pathogenic
3	48591757	G	A	G48591757A	COL7A1	NM_000094.4(COL7A1):c.1423C>T:p.Gln475Ter	coding	Pathogenic
3	48591847	G	A	G48591847A	COL7A1	NM_000094.4(COL7A1):c.1358-25C>T	noncoding	Benign
3	48591951	C	T	C48591951T	COL7A1	NM_000094.4(COL7A1):c.1304G>A:p.Trp435Ter	coding	Pathogenic
3	48592364	C	T	C48592364T	COL7A1	NM_000094.4(COL7A1):c.1080G>A:p.Trp360Ter	coding	Pathogenic
3	48592365	C	T	C48592365T	COL7A1	NM_000094.4(COL7A1):c.1079G>A:p.Trp360Ter	coding	Pathogenic
3	48592500	T	G	T48592500G	COL7A1	NM_000094.4(COL7A1):c.977-33A>C	noncoding	Pathogenic
3	48592775	C	T	C48592775T	COL7A1	NM_000094.4(COL7A1):c.846G>A:p.Glu282=	coding	Pathogenic/Likely_pathogenic
3	48593108	G	A	G48593108A	COL7A1	NM_000094.4(COL7A1):c.676C>T:p.Arg226Ter	coding	Pathogenic
3	48593219	G	A	G48593219A	COL7A1	NM_000094.4(COL7A1):c.565C>T:p.Gln189Ter	coding	Pathogenic
3	48593428	C	G	C48593428G	COL7A1	NM_000094.4(COL7A1):c.448G>C:p.Gly150Arg	coding	Pathogenic
3	48593428	C	T	C48593428T	COL7A1	NM_000094.4(COL7A1):c.448G>A:p.Gly150Arg	coding	Pathogenic
3	48593627	G	C	G48593627C	COL7A1	NM_000094.4(COL7A1):c.336C>G:p.Tyr112Ter	coding	Pathogenic
3	48593699	G	C	G48593699C	COL7A1	NM_000094.4(COL7A1):c.267-3C>G	noncoding	Pathogenic
3	48594529	G	T	G48594529T	COL7A1	NM_000094.4(COL7A1):c.105C>A:p.Tyr35Ter	coding	Pathogenic
3	48594556	G	T	G48594556T	COL7A1	NM_000094.4(COL7A1):c.86-8C>A	noncoding	Pathogenic
3	48595081	C	A	C48595081A	COL7A1	NM_000094.4(COL7A1):c.79G>T:p.Glu27Ter	coding	Pathogenic
3	48595323	A	C	A48595323C	COL7A1	NM_000094.4(COL7A1):c.-57T>G	noncoding	Benign
3	48595347	G	A	G48595347A	COL7A1	NC_000003.12:g.48595347G>A	noncoding	Pathogenic
3	48601000	T	G	T48601000G	UQCRC1	NM_003365.3(UQCRC1):c.941A>C:p.Tyr314Ser	coding	Pathogenic
3	48601010	T	G	T48601010G	UQCRC1	NM_003365.3(UQCRC1):c.931A>C:p.Ile311Leu	coding	Pathogenic
3	48626736	G	C	G48626736C	SLC26A6	NM_022911.3(SLC26A6):c.2074-51C>G	noncoding	Benign
3	48627040	C	T	C48627040T	SLC26A6	NM_022911.3(SLC26A6):c.1909G>A:p.Asp637Asn	coding	Benign
3	48627096	G	A	G48627096A	SLC26A6	NM_022911.3(SLC26A6):c.1894-41C>T	noncoding	Benign
3	48629490	A	G	A48629490G	SLC26A6	NM_022911.3(SLC26A6):c.1599+152T>C	noncoding	Benign
3	48630737	C	G	C48630737G	SLC26A6	NM_022911.3(SLC26A6):c.1135-17G>C	noncoding	Benign
3	48630961	G	T	G48630961T	SLC26A6	NM_022911.3(SLC26A6):c.1134+32C>A	noncoding	Benign
3	48632014	C	T	C48632014T	SLC26A6	NM_022911.3(SLC26A6):c.616G>A:p.Val206Met	coding	Benign
3	48632215	G	A	G48632215A	SLC26A6	NM_022911.3(SLC26A6):c.585+30C>T	noncoding	Benign
3	48633394	G	T	G48633394T	SLC26A6	NM_022911.3(SLC26A6):c.183-4C>A	noncoding	Benign
3	48660221	C	G	C48660221G	CELSR3	NM_001407.3(CELSR3):c.2414G>C:p.Ser805Thr	coding	Benign
3	48862524	G	A	G48862524A	SLC25A20	NM_000387.6(SLC25A20):c.535+18C>T	noncoding	Benign
3	49002531	G	A	G49002531A	P4HTM	NM_177939.3(P4HTM):c.659G>A:p.Trp220Ter	coding	Pathogenic
3	49015786	A	G	A49015786G	DALRD3	NM_001009996.3(DALRD3):c.1512+18T>C	coding	Benign
3	49017259	T	C	T49017259C	DALRD3	NM_001009996.3(DALRD3):c.896A>G:p.Gln299Arg	coding	Benign
3	49021360	G	T	G49021360T	NDUFAF3	NM_199073.2(NDUFAF3):c.-134G>T	noncoding	Benign
3	49026677	A	G	A49026677G	IMPDH2	NM_000884.3(IMPDH2):c.819+10T>C	noncoding	Benign
3	49030567	C	T	C49030567T	QRICH1	NM_198880.3(QRICH1):c.2216G>A:p.Trp739Ter	coding	Pathogenic
3	49032775	T	C	T49032775C	QRICH1	NM_198880.3(QRICH1):c.1896-2A>G	noncoding	Pathogenic
3	49033230	T	C	T49033230C	QRICH1	NM_198880.3(QRICH1):c.1787-2A>G	noncoding	Pathogenic
3	49046565	G	A	G49046565A	QRICH1	NM_198880.3(QRICH1):c.1531C>T:p.Arg511Ter	coding	Pathogenic
3	49056942	G	A	G49056942A	QRICH1	NM_198880.3(QRICH1):c.1258C>T:p.Gln420Ter	coding	Pathogenic
3	49057377	G	A	G49057377A	QRICH1	NM_198880.3(QRICH1):c.823C>T:p.Gln275Ter	coding	Pathogenic
3	49057554	C	T	C49057554T	QRICH1	NM_198880.3(QRICH1):c.646G>A:p.Val216Met	coding	Benign
3	49057659	G	A	G49057659A	QRICH1	NM_198880.3(QRICH1):c.541C>T:p.Gln181Ter	coding	Pathogenic
3	49076972	G	A	G49076972A	QRICH1	NM_198880.3(QRICH1):c.46C>T:p.Arg16Ter	coding	Pathogenic
3	49095877	A	G	A49095877G	-	Single_allele	noncoding	Benign
3	49098128	G	C	G49098128C	QARS1	NM_005051.3(QARS1):c.2152-11C>G	noncoding	Benign/Likely_benign
3	49098357	G	A	G49098357A	QARS1	NM_005051.3(QARS1):c.2080C>T:p.Arg694Ter	coding	Pathogenic
3	49098528	C	G	C49098528G	QARS1	NM_005051.3(QARS1):c.1957-48G>C	noncoding	Benign
3	49099415	G	A	G49099415A	QARS1	NM_005051.3(QARS1):c.1543C>T:p.Arg515Trp	coding	Pathogenic/Likely_pathogenic
3	49099804	C	A	C49099804A	QARS1	NM_005051.3(QARS1):c.1345G>T:p.Glu449Ter	coding	Pathogenic
3	49099941	C	G	C49099941G	QARS1	NM_005051.3(QARS1):c.1295+20G>C	noncoding	Benign/Likely_benign
3	49101973	G	A	G49101973A	QARS1	NM_005051.3(QARS1):c.632-74C>T	noncoding	Benign
3	49102533	G	A	G49102533A	QARS1	NM_005051.3(QARS1):c.517-61C>T	noncoding	Benign
3	49103347	G	A	G49103347A	QARS1	NM_005051.3(QARS1):c.514C>T:p.Gln172Ter	coding	Pathogenic
3	49103384	C	T	C49103384T	QARS1	NM_005051.3(QARS1):c.477G>A:p.Trp159Ter	coding	Pathogenic/Likely_pathogenic
3	49104281	G	A	G49104281A	QARS1	NM_005051.3(QARS1):c.265+43C>T	noncoding	Benign
3	49104405	G	A	G49104405A	QARS1	NM_005051.3(QARS1):c.184C>T:p.Arg62Ter	coding	Pathogenic
3	49121856	T	C	T49121856C	LAMB2	NM_002292.4(LAMB2):c.4928A>G:p.Gln1643Arg	coding	Benign
3	49122019	C	T	C49122019T	LAMB2	NM_002292.4(LAMB2):c.4848G>A:p.Arg1616=	coding	Benign
3	49122045	G	A	G49122045A	LAMB2	NM_002292.4(LAMB2):c.4822C>T:p.Gln1608Ter	coding	Pathogenic
3	49122758	G	A	G49122758A	LAMB2	NM_002292.4(LAMB2):c.4519C>T:p.Gln1507Ter	coding	Pathogenic
3	49122907	C	T	C49122907T	LAMB2	NM_002292.4(LAMB2):c.4370G>A:p.Arg1457Gln	coding	Benign/Likely_benign
3	49122992	G	A	G49122992A	LAMB2	NM_002292.4(LAMB2):c.4285C>T:p.Arg1429Ter	coding	Pathogenic
3	49123930	G	A	G49123930A	LAMB2	NM_002292.4(LAMB2):c.3595C>T:p.Arg1199Ter	coding	Pathogenic
3	49124367	A	G	A49124367G	LAMB2	NM_002292.4(LAMB2):c.3327+28T>C	noncoding	Benign
3	49125966	C	T	C49125966T	LAMB2	NM_002292.4(LAMB2):c.2344+1G>A	noncoding	Pathogenic
3	49128636	C	T	C49128636T	LAMB2	NM_002292.4(LAMB2):c.1890+25G>A	noncoding	Benign
3	49132419	G	A	G49132419A	LAMB2	NM_002292.4(LAMB2):c.250-14C>T	noncoding	Benign/Likely_benign
3	49358324	G	A	G49358324A	GPX1	NM_000581.4(GPX1):c.-46C>T	noncoding	Benign
3	49417859	C	T	C49417859T	AMT	NM_000481.4(AMT):c.992G>A:p.Arg331Gln	coding	Pathogenic
3	49417962	G	A	G49417962A	AMT	NM_000481.4(AMT):c.889C>T:p.Arg297Ter	coding	Pathogenic
3	49417964	C	T	C49417964T	AMT	NM_000481.4(AMT):c.887G>A:p.Arg296His	coding	Pathogenic/Likely_pathogenic
3	49419001	G	A	G49419001A	AMT	NM_000481.4(AMT):c.847C>T:p.Pro283Ser	coding	Pathogenic
3	49419022	C	G	C49419022G	AMT	NM_000481.4(AMT):c.826G>C:p.Asp276His	coding	Pathogenic/Likely_pathogenic
3	49419029	A	T	A49419029T	AMT	NM_000481.4(AMT):c.819T>A:p.Tyr273Ter	coding	Pathogenic
3	49419325	C	T	C49419325T	AMT	NM_000481.4(AMT):c.631G>A:p.Glu211Lys	coding	Benign/Likely_benign
3	49419382	G	A	G49419382A	AMT	NM_000481.4(AMT):c.574C>T:p.Gln192Ter	coding	Pathogenic/Likely_pathogenic
3	49419764	G	A	G49419764A	AMT	NM_000481.4(AMT):c.496C>T:p.Gln166Ter	coding	Pathogenic/Likely_pathogenic
3	49421514	A	G	A49421514G	AMT	NM_000481.4(AMT):c.317T>C:p.Ile106Thr	coding	Pathogenic/Likely_pathogenic
3	49421551	G	A	G49421551A	AMT	NM_000481.4(AMT):c.280C>T:p.Arg94Trp	coding	Pathogenic/Likely_pathogenic
3	49421574	T	G	T49421574G	AMT	NM_000481.4(AMT):c.259-2A>C	noncoding	Pathogenic
3	49421681	A	C	A49421681C	AMT	NM_000481.4(AMT):c.259-109T>G	noncoding	Benign
3	49421819	C	G	C49421819G	AMT	NM_000481.4(AMT):c.259-247G>C	noncoding	Benign
3	49421943	T	C	T49421943C	AMT	NM_000481.4(AMT):c.258+161A>G	noncoding	Benign
3	49422114	T	C	T49422114C	AMT	NM_000481.4(AMT):c.248A>G:p.His83Arg	coding	Pathogenic
3	49422184	G	A	G49422184A	AMT	NM_000481.4(AMT):c.178C>T:p.Gln60Ter	coding	Pathogenic
3	49422405	G	A	G49422405A	AMT	NM_000481.4(AMT):c.46C>T:p.Gln16Ter	coding	Pathogenic
3	49422449	A	G	A49422449G	AMT	NM_000481.4(AMT):c.2T>C:p.Met1Thr	coding	Pathogenic
3	49422449	A	T	A49422449T	AMT	NM_000481.4(AMT):c.2T>A:p.Met1Lys	coding	Pathogenic
3	49422917	A	G	A49422917G	AMT	NM_032316.3(NICN1):c.*1916T>C	noncoding	Benign
3	49422974	C	T	C49422974T	AMT	NM_032316.3(NICN1):c.*1859G>A	noncoding	Benign
3	49468866	C	T	C49468866T	DAG1	NM_001177643.2(DAG1):c.-306C>T	noncoding	Benign
3	49470079	T	G	T49470079G	DAG1	NM_001177643.3(DAG1):c.-117+1024T>G	noncoding	Benign
3	49487345	G	C	G49487345C	DAG1	NM_004393.6(DAG1):c.-117+16912G>C	noncoding	Benign
3	49487663	A	G	A49487663G	DAG1	NM_004393.6(DAG1):c.-117+17230A>G	noncoding	Benign
3	49488525	T	C	T49488525C	DAG1	NM_004393.6(DAG1):c.-117+18092T>C	noncoding	Benign
3	49488529	G	T	G49488529T	DAG1	NM_004393.6(DAG1):c.-117+18096G>T	noncoding	Benign
3	49510575	C	A	C49510575A	DAG1	NM_004393.6(DAG1):c.41C>A:p.Ser14Ter	coding	Pathogenic
3	49531110	C	G	C49531110G	DAG1	NM_004393.6(DAG1):c.599C>G:p.Thr200Ser	coding	Benign/Likely_benign
3	49531118	A	T	A49531118T	DAG1	NM_004393.6(DAG1):c.607A>T:p.Thr203Ser	coding	Benign
3	49533449	T	C	T49533449C	DAG1	NM_004393.6(DAG1):c.*250T>C	noncoding	Benign
3	49652766	G	A	G49652766A	BSN	NM_003458.4(BSN):c.3210G>A:p.Thr1070=	coding	Benign
3	49653063	C	T	C49653063T	BSN	NM_003458.4(BSN):c.3507C>T:p.Ser1169=	coding	Benign
3	49722421	C	T	C49722421T	GMPPB	NM_021971.4(GMPPB):c.640+11G>A	noncoding	Benign/Likely_benign
3	49722431	C	T	C49722431T	GMPPB	NM_021971.4(GMPPB):c.640+1G>A	noncoding	Pathogenic/Likely_pathogenic
3	49722606	T	C	T49722606C	GMPPB	NM_021971.4(GMPPB):c.551A>G:p.Gln184Arg	coding	Benign
3	49828959	C	T	C49828959T	TRAIP	NM_005879.3(TRAIP):c.*144G>A	noncoding	Benign
3	49829151	T	G	T49829151G	TRAIP	NM_005879.3(TRAIP):c.1362A>C:p.Thr454=	coding	Benign
3	49831725	A	C	A49831725C	TRAIP	NM_005879.3(TRAIP):c.1037+191T>G	noncoding	Benign
3	49832198	G	A	G49832198A	TRAIP	NM_005879.3(TRAIP):c.885-130C>T	noncoding	Benign
3	49840152	G	T	G49840152T	TRAIP	NM_005879.3(TRAIP):c.795+132C>A	noncoding	Benign
3	49840645	T	C	T49840645C	TRAIP	NM_005879.3(TRAIP):c.706-272A>G	noncoding	Benign
3	49840831	C	G	C49840831G	TRAIP	NM_005879.3(TRAIP):c.705+154G>C	noncoding	Benign
3	49840962	A	G	A49840962G	TRAIP	NM_005879.3(TRAIP):c.705+23T>C	noncoding	Benign
3	49841157	T	C	T49841157C	TRAIP	NM_005879.3(TRAIP):c.618-85A>G	noncoding	Benign
3	49841219	G	A	G49841219A	TRAIP	NM_005879.3(TRAIP):c.618-147C>T	noncoding	Benign
3	49841769	C	T	C49841769T	TRAIP	NM_005879.3(TRAIP):c.617+57G>A	noncoding	Benign
3	49843701	A	T	A49843701T	TRAIP	NM_005879.3(TRAIP):c.408+100T>A	noncoding	Benign
3	49847480	C	T	C49847480T	TRAIP	NM_005879.3(TRAIP):c.240+45G>A	noncoding	Benign
3	49856597	T	C	T49856597C	TRAIP	Single_allele	noncoding	Benign
3	49860567	A	G	A49860567G	CAMKV	NM_024046.5(CAMKV):c.776-18T>C	noncoding	Benign
3	49860840	A	G	A49860840G	CAMKV	NM_024046.5(CAMKV):c.651T>C:p.Asn217=	coding	Benign
3	49862362	G	A	G49862362A	CAMKV	NM_024046.5(CAMKV):c.27C>T:p.Gly9=	coding	Benign
3	49898669	T	C	T49898669C	MST1R	NM_002447.4(MST1R):c.1568A>G:p.Gln523Arg	coding	Benign
3	50191334	G	T	G50191334T	GNAT1	Single_allele	noncoding	Benign
3	50191764	G	A	G50191764A	GNAT1	NM_144499.3(GNAT1):c.39G>A:p.Arg13=	coding	Benign/Likely_benign
3	50191951	G	A	G50191951A	GNAT1	NM_144499.3(GNAT1):c.106+120G>A	noncoding	Benign
3	50192064	C	T	C50192064T	GNAT1	NM_144499.3(GNAT1):c.106+233C>T	noncoding	Benign
3	50193248	G	A	G50193248A	GNAT1	NM_144499.3(GNAT1):c.150-17G>A	noncoding	Benign
3	50193388	C	A	C50193388A	GNAT1	NM_144499.3(GNAT1):c.273C>A:p.Tyr91Ter	coding	Pathogenic
3	50193573	C	A	C50193573A	GNAT1	NM_144499.3(GNAT1):c.359C>A:p.Ser120Ter	coding	Pathogenic
3	50193802	G	T	G50193802T	GNAT1	NM_144499.3(GNAT1):c.499G>T:p.Glu167Ter	coding	Pathogenic
3	50194120	G	T	G50194120T	GNAT1	NM_144499.3(GNAT1):c.607G>T:p.Glu203Ter	coding	Pathogenic
3	50194394	C	T	C50194394T	GNAT1	NM_144499.3(GNAT1):c.709-107C>T	noncoding	Benign
3	50194665	C	T	C50194665T	GNAT1	NM_144499.3(GNAT1):c.862+11C>T	noncoding	Benign
3	50217841	G	T	G50217841T	SLC38A3	NM_006841.6(SLC38A3):c.855+1G>T	coding	Pathogenic
3	50218605	C	A	C50218605A	SLC38A3	NM_006841.6(SLC38A3):c.1049C>A:p.Ser350Ter	coding	Pathogenic
3	50218679	A	C	A50218679C	SLC38A3	NM_006841.6(SLC38A3):c.1123A>C:p.Thr375Pro	coding	Pathogenic
3	50301041	G	A	G50301041A	HYAL1	NM_033159.4(HYAL1):c.937C>T:p.Gln313Ter	coding	Pathogenic
3	50302170	G	A	G50302170A	HYAL1	NM_033159.4(HYAL1):c.787C>T:p.Gln263Ter	coding	Pathogenic
3	50302250	C	T	C50302250T	HYAL1	NM_033159.4(HYAL1):c.707G>A:p.Trp236Ter	coding	Pathogenic
3	50302411	C	T	C50302411T	HYAL1	NM_033159.4(HYAL1):c.546G>A:p.Trp182Ter	coding	Pathogenic
3	50302512	G	A	G50302512A	HYAL1	NM_033159.4(HYAL1):c.445C>T:p.Gln149Ter	coding	Pathogenic
3	50303151	G	A	G50303151A	HYAL1	NM_033159.4(HYAL1):c.-24-171C>T	noncoding	Benign
3	50318278	A	C	A50318278C	HYAL2	NM_003773.5(HYAL2):c.1273T>G:p.Phe425Val	coding	Pathogenic
3	50318299	T	G	T50318299G	HYAL2	NM_003773.5(HYAL2):c.1252A>C:p.Ile418Leu	coding	Benign
3	50319661	G	A	G50319661A	HYAL2	NM_003773.5(HYAL2):c.829C>T:p.Arg277Cys	coding	Pathogenic
3	50320047	T	C	T50320047C	HYAL2	NM_003773.5(HYAL2):c.443A>G:p.Lys148Arg	coding	Pathogenic
3	50320296	G	C	G50320296C	HYAL2	NM_003773.5(HYAL2):c.194C>G:p.Ser65Ter	coding	Pathogenic
3	50320438	A	C	A50320438C	HYAL2	NM_003773.5(HYAL2):c.52T>G:p.Ser18Ala	coding	Benign
3	50341197	A	G	A50341197G	ZMYND10	NM_015896.4(ZMYND10):c.*213T>C	noncoding	Benign
3	50341515	A	G	A50341515G	ZMYND10	NM_015896.4(ZMYND10):c.1248-30T>C	noncoding	Benign
3	50342382	C	T	C50342382T	ZMYND10	NM_015896.4(ZMYND10):c.873+15G>A	noncoding	Benign
3	50342561	G	A	G50342561A	ZMYND10	NM_015896.4(ZMYND10):c.709C>T:p.Gln237Ter	coding	Pathogenic
3	50343230	G	A	G50343230A	ZMYND10	NM_015896.4(ZMYND10):c.511-24C>T	noncoding	Benign
3	50343327	G	A	G50343327A	ZMYND10	NM_015896.4(ZMYND10):c.490C>T:p.Gln164Ter	coding	Pathogenic
3	50343864	G	A	G50343864A	ZMYND10	NM_015896.4(ZMYND10):c.202-14C>T	noncoding	Benign
3	50348123	C	T	C50348123T	NPRL2	NM_006545.5(NPRL2):c.932+1G>A	noncoding	Pathogenic/Likely_pathogenic
3	50349279	C	G	C50349279G	NPRL2	NM_006545.5(NPRL2):c.448+107G>C	noncoding	Benign
3	50350079	A	C	A50350079C	NPRL2	NM_006545.5(NPRL2):c.79-57T>G	noncoding	Benign
3	50350442	C	T	C50350442T	NPRL2	NM_006545.5(NPRL2):c.78+133G>A	noncoding	Benign
3	50350656	A	C	A50350656C	NPRL2	NM_006545.5(NPRL2):c.-4T>G	noncoding	Benign
3	50350952	C	A	C50350952A	NPRL2	NM_001291284.2(CYB561D2):c.-58C>A	noncoding	Benign
3	50351176	C	A	C50351176A	NPRL2	NM_001291284.2(CYB561D2):c.-26+192C>A	noncoding	Benign
3	50364956	G	A	G50364956A	CACNA2D2	NM_006030.4(CACNA2D2):c.3223C>T:p.Gln1075Ter	coding	Pathogenic
3	50365877	G	A	G50365877A	CACNA2D2	NM_006030.4(CACNA2D2):c.2863-15C>T	noncoding	Benign
3	50365881	C	T	C50365881T	CACNA2D2	NM_006030.4(CACNA2D2):c.2863-19G>A	noncoding	Benign
3	50366815	G	A	G50366815A	CACNA2D2	NM_006030.4(CACNA2D2):c.2589+16C>T	noncoding	Benign
3	50367381	C	T	C50367381T	CACNA2D2	NM_006030.4(CACNA2D2):c.2401+13G>A	noncoding	Benign
3	50367658	G	A	G50367658A	CACNA2D2	NM_006030.4(CACNA2D2):c.2281C>T:p.Arg761Ter	coding	Pathogenic
3	50372893	T	C	T50372893C	CACNA2D2	NM_006030.4(CACNA2D2):c.1984+1844A>G	noncoding	Benign
3	50374868	C	T	C50374868T	CACNA2D2	NM_006030.4(CACNA2D2):c.1908-55G>A	noncoding	Benign
3	50375514	A	G	A50375514G	CACNA2D2	NM_006030.4(CACNA2D2):c.1907+130T>C	noncoding	Benign
3	50375706	C	T	C50375706T	CACNA2D2	NM_006030.4(CACNA2D2):c.1846-1G>A	coding	Pathogenic
3	50376103	G	A	G50376103A	CACNA2D2	NM_006030.4(CACNA2D2):c.1701+11C>T	noncoding	Benign
3	50376112	A	G	A50376112G	CACNA2D2	NM_006030.4(CACNA2D2):c.1701+2T>C	noncoding	Pathogenic
3	50378211	A	C	A50378211C	CACNA2D2	NM_006030.4(CACNA2D2):c.1389+73T>G	noncoding	Benign
3	50378350	G	A	G50378350A	CACNA2D2	NM_006030.4(CACNA2D2):c.1340-17C>T	noncoding	Benign
3	50379070	C	T	C50379070T	CACNA2D2	NM_006030.4(CACNA2D2):c.1260+22G>A	noncoding	Benign
3	50379081	T	C	T50379081C	CACNA2D2	NM_006030.4(CACNA2D2):c.1260+11A>G	noncoding	Benign
3	50379293	C	A	C50379293A	CACNA2D2	NM_006030.4(CACNA2D2):c.1153-94G>T	noncoding	Benign
3	50380018	C	T	C50380018T	CACNA2D2	NM_006030.4(CACNA2D2):c.843G>A:p.Trp281Ter	coding	Pathogenic
3	50380761	G	A	G50380761A	CACNA2D2	NM_006030.4(CACNA2D2):c.829C>T:p.Arg277Ter	coding	Pathogenic
3	50381110	A	G	A50381110G	CACNA2D2	NM_006030.4(CACNA2D2):c.669T>C:p.Asn223=	coding	Benign/Likely_benign
3	50381116	G	T	G50381116T	CACNA2D2	NM_006030.4(CACNA2D2):c.663C>A:p.Ile221=	coding	Benign
3	50384287	T	C	T50384287C	CACNA2D2	NM_006030.4(CACNA2D2):c.561A>G:p.Leu187=	coding	Benign
3	50387383	A	G	A50387383G	CACNA2D2	NM_006030.4(CACNA2D2):c.510+185T>C	noncoding	Benign
3	50387529	G	A	G50387529A	CACNA2D2	NM_006030.4(CACNA2D2):c.510+39C>T	noncoding	Benign
3	50387746	C	A	C50387746A	CACNA2D2	NM_006030.4(CACNA2D2):c.466-134G>T	noncoding	Benign
3	50393979	C	G	C50393979G	CACNA2D2	NM_006030.4(CACNA2D2):c.465+130G>C	noncoding	Benign
3	50434199	C	T	C50434199T	CACNA2D2	NM_006030.4(CACNA2D2):c.405+114G>A	noncoding	Benign
3	50434293	C	T	C50434293T	CACNA2D2	NM_006030.4(CACNA2D2):c.405+20G>A	noncoding	Benign
3	50476400	C	T	C50476400T	CACNA2D2	NM_006030.4(CACNA2D2):c.207-201G>A	noncoding	Benign
3	50503592	C	T	C50503592T	CACNA2D2	NM_006030.4(CACNA2D2):c.-169G>A	noncoding	Benign
3	50617640	C	T	C50617640T	MAPKAPK3	NM_001243925.2(MAPKAPK3):c.75C>T:p.Gly25=	coding	Benign
3	50642299	G	A	G50642299A	MAPKAPK3	NM_001243925.2(MAPKAPK3):c.471G>A:p.Leu157=	coding	Benign
3	50645805	C	A	C50645805A	MAPKAPK3	NM_001243925.2(MAPKAPK3):c.704+20C>A	noncoding	Benign
3	50646224	C	T	C50646224T	MAPKAPK3	NM_001243925.2(MAPKAPK3):c.789C>T:p.Tyr263=	coding	Benign
3	50646735	C	G	C50646735G	MAPKAPK3	NM_001243925.2(MAPKAPK3):c.830-5C>G	noncoding	Benign
3	51236342	T	C	T51236342C	DOCK3	NM_004947.5(DOCK3):c.1918-3T>C	noncoding	Benign
3	51985845	C	T	C51985845T	ACY1	NM_000666.3(ACY1):c.265-7C>T	noncoding	Benign
3	51987073	C	T	C51987073T	ACY1	NM_000666.3(ACY1):c.657+12C>T	noncoding	Benign
3	51987292	C	T	C51987292T	ACY1	NM_000666.3(ACY1):c.708-17C>T	noncoding	Benign
3	52075652	C	T	C52075652T	POC1A	NM_015426.5(POC1A):c.*235G>A	noncoding	Benign
3	52075825	T	C	T52075825C	POC1A	NM_015426.5(POC1A):c.*62A>G	noncoding	Benign
3	52096650	C	A	C52096650A	POC1A	NM_015426.5(POC1A):c.1044G>T:p.Gln348His	coding	Benign
3	52122378	C	T	C52122378T	POC1A	NM_015426.5(POC1A):c.981+1G>A	noncoding	Pathogenic
3	52124939	G	A	G52124939A	POC1A	NM_015426.5(POC1A):c.882+174C>T	noncoding	Benign
3	52125460	G	A	G52125460A	POC1A	NM_015426.5(POC1A):c.814-279C>T	noncoding	Benign
3	52138321	T	A	T52138321A	POC1A	NM_015426.5(POC1A):c.680-19A>T	noncoding	Benign
3	52145950	T	C	T52145950C	POC1A	NM_015426.5(POC1A):c.575A>G:p.Tyr192Cys	coding	Benign
3	52148928	T	C	T52148928C	POC1A	NM_015426.5(POC1A):c.455+282A>G	noncoding	Benign
3	52149902	G	A	G52149902A	POC1A	NM_015426.5(POC1A):c.189C>T:p.Ala63=	coding	Benign
3	52150744	T	C	T52150744C	POC1A	NM_015426.5(POC1A):c.103+272A>G	noncoding	Benign
3	52154292	T	C	T52154292C	POC1A	NM_015426.5(POC1A):c.18+63A>G	noncoding	Benign
3	52154345	C	T	C52154345T	POC1A	NM_015426.5(POC1A):c.18+10G>A	noncoding	Benign
3	52154348	G	A	G52154348A	POC1A	NM_015426.5(POC1A):c.18+7C>T	noncoding	Benign
3	52154372	T	C	T52154372C	POC1A	NM_015426.5(POC1A):c.1A>G:p.Met1Val	coding	Pathogenic
3	52291023	G	A	G52291023A	GLYCTK	NM_145262.4(GLYCTK):c.441G>A:p.Pro147=	coding	Benign
3	52291090	C	G	C52291090G	GLYCTK	NM_145262.4(GLYCTK):c.508C>G:p.Leu170Val	coding	Benign
3	52291743	A	G	A52291743G	GLYCTK	NM_145262.4(GLYCTK):c.530-4A>G	noncoding	Benign
3	52322488	C	T	C52322488T	DNAH1	NM_015512.5(DNAH1):c.46C>T:p.Gln16Ter	coding	Pathogenic
3	52323796	G	A	G52323796A	DNAH1	NM_015512.5(DNAH1):c.334-12G>A	noncoding	Benign
3	52323898	C	G	C52323898G	DNAH1	NM_015512.5(DNAH1):c.406+18C>G	noncoding	Benign
3	52324101	T	C	T52324101C	DNAH1	NM_015512.5(DNAH1):c.406+221T>C	noncoding	Benign
3	52325956	C	T	C52325956T	DNAH1	NM_015512.5(DNAH1):c.407-184C>T	noncoding	Benign
3	52327700	C	T	C52327700T	DNAH1	NM_015512.5(DNAH1):c.739-182C>T	noncoding	Benign
3	52331133	C	T	C52331133T	DNAH1	NM_015512.5(DNAH1):c.872-15C>T	noncoding	Benign/Likely_benign
3	52332028	G	A	G52332028A	DNAH1	NM_015512.5(DNAH1):c.1034-114G>A	noncoding	Benign
3	52332405	G	A	G52332405A	DNAH1	NM_015512.5(DNAH1):c.1286+11G>A	noncoding	Benign
3	52332410	G	A	G52332410A	DNAH1	NM_015512.5(DNAH1):c.1286+16G>A	noncoding	Benign/Likely_benign
3	52345404	T	C	T52345404C	DNAH1	NM_015512.5(DNAH1):c.1445-91T>C	noncoding	Benign
3	52346975	C	T	C52346975T	DNAH1	NM_015512.5(DNAH1):c.1955+205C>T	noncoding	Benign
3	52347810	G	A	G52347810A	DNAH1	NM_015512.5(DNAH1):c.1956-14G>A	noncoding	Benign
3	52348806	C	T	C52348806T	DNAH1	NM_015512.5(DNAH1):c.2107-82C>T	noncoding	Benign
3	52349104	G	A	G52349104A	DNAH1	NM_015512.5(DNAH1):c.2300+23G>A	noncoding	Benign
3	52349667	A	G	A52349667G	DNAH1	NM_015512.5(DNAH1):c.2526+247A>G	noncoding	Benign
3	52349827	A	G	A52349827G	DNAH1	NM_015512.5(DNAH1):c.2527-162A>G	noncoding	Benign
3	52349971	G	T	G52349971T	DNAH1	NM_015512.5(DNAH1):c.2527-18G>T	noncoding	Benign
3	52350064	C	T	C52350064T	DNAH1	NM_015512.5(DNAH1):c.2602C>T:p.Arg868Ter	coding	Pathogenic
3	52352121	G	T	G52352121T	DNAH1	NM_015512.5(DNAH1):c.2871+18G>T	noncoding	Benign
3	52352792	T	C	T52352792C	DNAH1	NM_015512.5(DNAH1):c.3027+85T>C	noncoding	Benign
3	52353062	T	C	T52353062C	DNAH1	NM_015512.5(DNAH1):c.3028-41T>C	noncoding	Benign
3	52353182	G	A	G52353182A	DNAH1	NM_015512.5(DNAH1):c.3107G>A:p.Trp1036Ter	coding	Pathogenic
3	52355210	T	C	T52355210C	DNAH1	NM_015512.5(DNAH1):c.3693+155T>C	noncoding	Benign
3	52356539	C	T	C52356539T	DNAH1	NM_015512.5(DNAH1):c.3694-75C>T	noncoding	Benign
3	52356692	C	T	C52356692T	DNAH1	NM_015512.5(DNAH1):c.3772C>T:p.Gln1258Ter	coding	Pathogenic/Likely_pathogenic
3	52356773	C	T	C52356773T	DNAH1	NM_015512.5(DNAH1):c.3853C>T:p.Arg1285Trp	coding	Benign/Likely_benign
3	52357457	G	A	G52357457A	DNAH1	NM_015512.5(DNAH1):c.3859-157G>A	noncoding	Benign
3	52358373	G	C	G52358373C	DNAH1	NM_015512.5(DNAH1):c.4087-185G>C	noncoding	Benign
3	52358638	C	A	C52358638A	DNAH1	NM_015512.5(DNAH1):c.4167C>A:p.Tyr1389Ter	coding	Pathogenic
3	52358757	T	C	T52358757C	DNAH1	NM_015512.5(DNAH1):c.4266+20T>C	noncoding	Benign
3	52358861	G	A	G52358861A	DNAH1	NM_015512.5(DNAH1):c.4266+124G>A	noncoding	Benign
3	52359426	C	G	C52359426G	DNAH1	NM_015512.5(DNAH1):c.4407+40C>G	noncoding	Benign
3	52360097	G	A	G52360097A	DNAH1	NM_015512.5(DNAH1):c.4571+18G>A	noncoding	Benign
3	52361370	C	T	C52361370T	DNAH1	NM_015512.5(DNAH1):c.4874+18C>T	noncoding	Benign
3	52362928	G	A	G52362928A	DNAH1	NM_015512.5(DNAH1):c.5095-67G>A	noncoding	Benign
3	52363403	G	A	G52363403A	DNAH1	NM_015512.5(DNAH1):c.5244+259G>A	noncoding	Benign
3	52364818	C	T	C52364818T	DNAH1	NM_015512.5(DNAH1):c.5332-15C>T	noncoding	Benign
3	52364819	G	A	G52364819A	DNAH1	NM_015512.5(DNAH1):c.5332-14G>A	noncoding	Benign/Likely_benign
3	52365262	G	A	G52365262A	DNAH1	NM_015512.5(DNAH1):c.5518+243G>A	noncoding	Benign
3	52366899	C	G	C52366899G	DNAH1	NM_015512.5(DNAH1):c.5765+12C>G	noncoding	Benign/Likely_benign
3	52367093	A	G	A52367093G	DNAH1	NM_015512.5(DNAH1):c.5765+206A>G	noncoding	Benign
3	52370034	G	A	G52370034A	DNAH1	NM_015512.5(DNAH1):c.6138+15G>A	noncoding	Benign
3	52370042	C	T	C52370042T	DNAH1	NM_015512.5(DNAH1):c.6138+23C>T	noncoding	Benign
3	52370792	C	T	C52370792T	DNAH1	NM_015512.5(DNAH1):c.6492C>T:p.Asn2164=	coding	Benign
3	52372100	C	G	C52372100G	DNAH1	NM_015512.5(DNAH1):c.6666+14C>G	noncoding	Benign
3	52373143	T	C	T52373143C	DNAH1	NM_015512.5(DNAH1):c.6985+90T>C	noncoding	Benign
3	52379670	C	T	C52379670T	DNAH1	NM_015512.5(DNAH1):c.7378-235C>T	noncoding	Benign
3	52380072	C	T	C52380072T	DNAH1	NM_015512.5(DNAH1):c.7545C>T:p.Tyr2515=	coding	Benign
3	52380155	G	A	G52380155A	DNAH1	NM_015512.5(DNAH1):c.7608+20G>A	noncoding	Benign
3	52381623	C	T	C52381623T	DNAH1	NM_015512.5(DNAH1):c.7609-17C>T	noncoding	Benign
3	52381849	A	G	A52381849G	DNAH1	NM_015512.5(DNAH1):c.7805+13A>G	noncoding	Benign
3	52382378	C	T	C52382378T	DNAH1	NM_015512.5(DNAH1):c.7864C>T:p.Arg2622Ter	coding	Pathogenic
3	52383622	T	C	T52383622C	DNAH1	NM_015512.5(DNAH1):c.8150+28T>C	noncoding	Benign
3	52384990	G	A	G52384990A	DNAH1	NM_015512.5(DNAH1):c.8514+13G>A	noncoding	Benign
3	52386398	G	A	G52386398A	DNAH1	NM_015512.5(DNAH1):c.8811+53G>A	noncoding	Benign
3	52386885	G	A	G52386885A	DNAH1	NM_015512.5(DNAH1):c.9003+32G>A	noncoding	Benign
3	52388598	C	T	C52388598T	DNAH1	NM_015512.5(DNAH1):c.9352C>T:p.Arg3118Ter	coding	Pathogenic
3	52392813	A	C	A52392813C	DNAH1	NM_015512.5(DNAH1):c.10279-17A>C	noncoding	Benign
3	52393135	C	T	C52393135T	DNAH1	NM_015512.5(DNAH1):c.10474+110C>T	noncoding	Benign
3	52393242	G	A	G52393242A	DNAH1	NM_015512.5(DNAH1):c.10475-92G>A	noncoding	Benign
3	52394405	G	A	G52394405A	DNAH1	NM_015512.5(DNAH1):c.10627-60G>A	noncoding	Benign
3	52395014	G	A	G52395014A	DNAH1	NM_015512.5(DNAH1):c.10923G>A:p.Gln3641=	coding	Benign
3	52395695	A	G	A52395695G	DNAH1	NM_015512.5(DNAH1):c.11259+17A>G	noncoding	Benign
3	52395956	T	C	T52395956C	DNAH1	NM_015512.5(DNAH1):c.11259+278T>C	noncoding	Benign
3	52397205	C	T	C52397205T	DNAH1	NM_015512.5(DNAH1):c.11787+161C>T	noncoding	Benign
3	52397655	G	A	G52397655A	DNAH1	NM_015512.5(DNAH1):c.11788-52G>A	noncoding	Benign
3	52397693	C	T	C52397693T	DNAH1	NM_015512.5(DNAH1):c.11788-14C>T	noncoding	Benign/Likely_benign
3	52398017	C	T	C52398017T	DNAH1	NM_015512.5(DNAH1):c.11959-15C>T	noncoding	Benign/Likely_benign
3	52398198	G	A	G52398198A	DNAH1	NM_015512.5(DNAH1):c.12089+36G>A	noncoding	Benign
3	52398584	G	A	G52398584A	DNAH1	NM_015512.5(DNAH1):c.12090-266G>A	noncoding	Benign
3	52398594	G	A	G52398594A	DNAH1	NM_015512.5(DNAH1):c.12090-256G>A	noncoding	Benign
3	52399715	C	G	C52399715G	DNAH1	NM_015512.5(DNAH1):c.12612C>G:p.Pro4204=	coding	Benign
3	52400530	C	A	C52400530A	DNAH1	Single_allele	noncoding	Benign
3	52402325	C	T	C52402325T	BAP1	NM_004656.4(BAP1):c.2153G>A:p.Arg718Gln	coding	Pathogenic
3	52402387	G	A	G52402387A	BAP1	NM_004656.4(BAP1):c.2091C>T:p.Ser697=	coding	Benign/Likely_benign
3	52402443	T	G	T52402443G	BAP1	NM_004656.4(BAP1):c.2057-22A>C	noncoding	Benign/Likely_benign
3	52402641	C	A	C52402641A	BAP1	NM_004656.4(BAP1):c.2017G>T:p.Glu673Ter	coding	Pathogenic
3	52402806	C	T	C52402806T	BAP1	NM_004656.4(BAP1):c.1956G>A:p.Glu652=	coding	Benign/Likely_benign
3	52402844	C	A	C52402844A	BAP1	NM_004656.4(BAP1):c.1918G>T:p.Glu640Ter	coding	Pathogenic
3	52403127	C	T	C52403127T	BAP1	NM_004656.4(BAP1):c.1890+11G>A	noncoding	Benign/Likely_benign
3	52403145	G	T	G52403145T	BAP1	NM_004656.4(BAP1):c.1883C>A:p.Ser628Ter	coding	Pathogenic
3	52403156	C	T	C52403156T	BAP1	NM_004656.4(BAP1):c.1872G>A:p.Gly624=	coding	Benign/Likely_benign
3	52403227	T	A	T52403227A	BAP1	NM_004656.4(BAP1):c.1801A>T:p.Lys601Ter	coding	Pathogenic
3	52403408	A	G	A52403408G	BAP1	NM_004656.4(BAP1):c.1729+8T>C	noncoding	Benign/Likely_benign
3	52403594	C	T	C52403594T	BAP1	NM_004656.4(BAP1):c.1551G>A:p.Thr517=	coding	Benign/Likely_benign
3	52403619	G	T	G52403619T	BAP1	NM_004656.4(BAP1):c.1526C>A:p.Ser509Ter	coding	Pathogenic
3	52403631	G	T	G52403631T	BAP1	NM_004656.4(BAP1):c.1514C>A:p.Ser505Ter	coding	Pathogenic
3	52403718	A	G	A52403718G	BAP1	NM_004656.4(BAP1):c.1427T>C:p.Val476Ala	coding	Benign/Likely_benign
3	52404490	C	A	C52404490A	BAP1	NM_004656.4(BAP1):c.1213G>T:p.Glu405Ter	coding	Pathogenic
3	52404500	A	C	A52404500C	BAP1	NM_004656.4(BAP1):c.1203T>G:p.Tyr401Ter	coding	Pathogenic
3	52404521	G	C	G52404521C	BAP1	NM_004656.4(BAP1):c.1182C>G:p.Tyr394Ter	coding	Pathogenic
3	52405445	C	T	C52405445T	BAP1	NM_004656.4(BAP1):c.932-151G>A	noncoding	Pathogenic
3	52406367	G	T	G52406367T	BAP1	NM_004656.4(BAP1):c.669C>A:p.Tyr223Ter	coding	Pathogenic
3	52406812	A	T	A52406812T	BAP1	NM_004656.4(BAP1):c.659+17T>A	noncoding	Benign/Likely_benign
3	52406818	A	G	A52406818G	BAP1	NM_004656.4(BAP1):c.659+11T>C	noncoding	Benign/Likely_benign
3	52406883	C	T	C52406883T	BAP1	NM_004656.4(BAP1):c.605G>A:p.Trp202Ter	coding	Pathogenic
3	52406900	C	T	C52406900T	BAP1	NM_004656.4(BAP1):c.588G>A:p.Trp196Ter	coding	Pathogenic
3	52406909	T	C	T52406909C	BAP1	NM_004656.4(BAP1):c.581-2A>G	noncoding	Pathogenic
3	52407398	C	A	C52407398A	BAP1	NM_004656.4(BAP1):c.437+1G>T	noncoding	Pathogenic/Likely_pathogenic
3	52407398	C	T	C52407398T	BAP1	NM_004656.4(BAP1):c.437+1G>A	noncoding	Pathogenic
3	52407430	C	A	C52407430A	BAP1	NM_004656.4(BAP1):c.406G>T:p.Glu136Ter	coding	Pathogenic
3	52407464	C	T	C52407464T	BAP1	NM_004656.4(BAP1):c.376-4G>A	noncoding	Benign/Likely_benign
3	52407973	C	T	C52407973T	BAP1	NM_004656.4(BAP1):c.360G>A:p.Lys120=	coding	Benign/Likely_benign
3	52408061	C	G	C52408061G	BAP1	NM_004656.4(BAP1):c.272G>C:p.Cys91Ser	coding	Pathogenic
3	52408338	G	C	G52408338C	BAP1	NM_004656.4(BAP1):c.255+136C>G	noncoding	Benign
3	52408553	C	G	C52408553G	BAP1	NM_004656.4(BAP1):c.176G>C:p.Arg59Pro	coding	Pathogenic
3	52408583	A	G	A52408583G	BAP1	NM_004656.4(BAP1):c.146T>C:p.Leu49Pro	coding	Pathogenic
3	52408597	A	C	A52408597C	BAP1	NM_004656.4(BAP1):c.132T>G:p.Tyr44Ter	coding	Pathogenic
3	52408654	A	C	A52408654C	BAP1	NM_004656.4(BAP1):c.123-48T>G	noncoding	Benign
3	52409570	G	A	G52409570A	BAP1	NM_004656.4(BAP1):c.106C>T:p.Gln36Ter	coding	Pathogenic
3	52409712	A	G	A52409712G	BAP1	NM_004656.4(BAP1):c.67+2T>C	noncoding	Pathogenic
3	52409845	G	T	G52409845T	BAP1	NM_004656.4(BAP1):c.34C>A:p.Pro12Thr	coding	Pathogenic
3	52409865	C	T	C52409865T	BAP1	NM_004656.4(BAP1):c.14G>A:p.Trp5Ter	coding	Pathogenic
3	52451089	G	C	G52451089C	TNNC1	Single_allele	noncoding	Benign
3	52451152	C	T	C52451152T	TNNC1	NM_003280.3(TNNC1):c.*123G>A	noncoding	Benign
3	52451192	T	G	T52451192G	TNNC1	NM_003280.3(TNNC1):c.*83A>C	noncoding	Benign/Likely_benign
3	52451198	C	A	C52451198A	TNNC1	NM_003280.3(TNNC1):c.*77G>T	noncoding	Benign
3	52451391	C	T	C52451391T	TNNC1	NM_003280.3(TNNC1):c.454G>A:p.Glu152Lys	coding	Pathogenic
3	52451736	G	A	G52451736A	TNNC1	NM_003280.3(TNNC1):c.317+8C>T	noncoding	Benign/Likely_benign
3	52451743	C	T	C52451743T	TNNC1	NM_003280.3(TNNC1):c.317+1G>A	noncoding	Pathogenic
3	52452164	C	A	C52452164A	TNNC1	NM_003280.3(TNNC1):c.144G>T:p.Leu48=	coding	Benign/Likely_benign
3	52523992	T	C	T52523992C	STAB1	NM_015136.3(STAB1):c.7517T>C:p.Met2506Thr	coding	Benign
3	52550699	A	G	A52550699G	PBRM1	NM_018313.5(PBRM1):c.4359+48T>C	noncoding	Benign
3	52554639	G	A	G52554639A	PBRM1	NM_018313.5(PBRM1):c.4288+85C>T	noncoding	Benign
3	52563648	G	A	G52563648A	PBRM1	NM_018313.5(PBRM1):c.3801-155C>T	noncoding	Benign
3	52564343	T	C	T52564343C	PBRM1	NM_018313.5(PBRM1):c.3617-110A>G	noncoding	Benign
3	52576399	T	C	T52576399C	PBRM1	NM_018313.5(PBRM1):c.3616+142A>G	noncoding	Benign
3	52576497	T	C	T52576497C	PBRM1	NM_018313.5(PBRM1):c.3616+44A>G	noncoding	Benign
3	52586698	G	T	G52586698T	PBRM1	NM_018313.5(PBRM1):c.3049-10C>A	noncoding	Benign
3	52586729	G	A	G52586729A	PBRM1	NM_018313.5(PBRM1):c.3049-41C>T	noncoding	Benign
3	52587823	C	T	C52587823T	PBRM1	NM_018313.5(PBRM1):c.2966-388G>A	noncoding	Benign
3	52589449	A	T	A52589449T	PBRM1	NM_018313.5(PBRM1):c.2780-194T>A	noncoding	Benign
3	52603423	T	C	T52603423C	PBRM1	NM_018313.5(PBRM1):c.2779+98A>G	noncoding	Benign
3	52603470	C	G	C52603470G	PBRM1	NM_018313.5(PBRM1):c.2779+51G>C	noncoding	Benign
3	52609291	A	G	A52609291G	PBRM1	NM_018313.5(PBRM1):c.2567+22T>C	noncoding	Benign
3	52609960	A	G	A52609960G	PBRM1	NM_018313.5(PBRM1):c.1925-5T>C	noncoding	Benign
3	52610117	T	A	T52610117A	PBRM1	NM_018313.5(PBRM1):c.1925-162A>T	noncoding	Benign
3	52615074	C	G	C52615074G	PBRM1	NM_018313.5(PBRM1):c.1924+277G>C	noncoding	Benign
3	52615732	A	G	A52615732G	PBRM1	NM_018313.5(PBRM1):c.1819-276T>C	noncoding	Benign
3	52627624	G	C	G52627624C	PBRM1	NM_018313.5(PBRM1):c.1444-254C>G	noncoding	Benign
3	52628834	A	C	A52628834C	PBRM1	NM_018313.5(PBRM1):c.1443+60T>G	noncoding	Benign
3	52642174	A	C	A52642174C	PBRM1	NM_018313.5(PBRM1):c.996-129T>G	noncoding	Benign
3	52643462	G	A	G52643462A	PBRM1	NM_018313.5(PBRM1):c.900-119C>T	noncoding	Benign
3	52652071	A	C	A52652071C	PBRM1	NM_018313.5(PBRM1):c.646-261T>G	noncoding	Benign
3	52658108	G	A	G52658108A	PBRM1	NM_018313.5(PBRM1):c.645+91C>T	noncoding	Benign
3	52658343	C	G	C52658343G	PBRM1	NM_018313.5(PBRM1):c.529-28G>C	noncoding	Benign
3	52661845	C	T	C52661845T	PBRM1	NM_018313.5(PBRM1):c.528+288G>A	noncoding	Benign
3	52662287	G	C	G52662287C	PBRM1	NM_018313.5(PBRM1):c.385-11C>G	noncoding	Benign
3	52662336	T	C	T52662336C	PBRM1	NM_018313.5(PBRM1):c.385-60A>G	noncoding	Benign
3	52678443	T	C	T52678443C	PBRM1	NM_018313.5(PBRM1):c.236+57A>G	noncoding	Benign
3	52694788	C	T	C52694788T	GLT8D1	NM_018446.4(GLT8D1):c.*57G>A	noncoding	Benign
3	52695944	C	T	C52695944T	GLT8D1	NM_018446.4(GLT8D1):c.629G>A:p.Arg210His	coding	Benign
3	52696683	T	G	T52696683G	GLT8D1	NM_018446.4(GLT8D1):c.330-24A>C	noncoding	Benign
3	52697582	T	C	T52697582C	GLT8D1	NM_018446.4(GLT8D1):c.329+139A>G	noncoding	Benign
3	52786965	A	T	A52786965T	ITIH1	NM_002215.4(ITIH1):c.1754A>T:p.Glu585Val	coding	Benign
3	52799789	C	A	C52799789A	ITIH3	NM_002217.4(ITIH3):c.943C>A:p.Gln315Lys	coding	Benign
3	53092127	G	A	G53092127A	RFT1	NM_052859.4(RFT1):c.1459-57C>T	noncoding	Benign
3	53099133	C	G	C53099133G	RFT1	NM_052859.4(RFT1):c.1208+248G>C	noncoding	Benign
3	53099362	T	C	T53099362C	RFT1	NM_052859.4(RFT1):c.1208+19A>G	noncoding	Benign
3	53099510	A	G	A53099510G	RFT1	NM_052859.4(RFT1):c.1103-24T>C	noncoding	Benign
3	53104211	G	A	G53104211A	RFT1	NM_052859.4(RFT1):c.958-114C>T	noncoding	Benign
3	53104238	T	C	T53104238C	RFT1	NM_052859.4(RFT1):c.958-141A>G	noncoding	Benign
3	53105425	C	G	C53105425G	RFT1	NM_052859.4(RFT1):c.957+248G>C	noncoding	Benign
3	53105490	C	T	C53105490T	RFT1	NM_052859.4(RFT1):c.957+183G>A	noncoding	Benign
3	53105491	A	G	A53105491G	RFT1	NM_052859.4(RFT1):c.957+182T>C	noncoding	Benign
3	53105961	G	A	G53105961A	RFT1	NM_052859.4(RFT1):c.827-158C>T	noncoding	Benign
3	53106587	T	C	T53106587C	RFT1	NM_052859.4(RFT1):c.826+232A>G	noncoding	Benign
3	53106614	A	C	A53106614C	RFT1	NM_052859.4(RFT1):c.826+205T>G	noncoding	Benign
3	53120251	C	G	C53120251G	RFT1	NM_052859.4(RFT1):c.559-230G>C	noncoding	Benign
3	53122049	G	C	G53122049C	RFT1	NM_052859.4(RFT1):c.457-249C>G	noncoding	Benign
3	53123453	C	T	C53123453T	RFT1	NM_052859.4(RFT1):c.266+271G>A	noncoding	Benign
3	53123530	T	C	T53123530C	RFT1	NM_052859.4(RFT1):c.266+194A>G	noncoding	Benign
3	53123587	T	C	T53123587C	RFT1	NM_052859.4(RFT1):c.266+137A>G	noncoding	Benign
3	53124142	T	C	T53124142C	RFT1	NM_052859.4(RFT1):c.150-302A>G	noncoding	Benign
3	53126116	T	C	T53126116C	RFT1	NM_052859.4(RFT1):c.64-122A>G	noncoding	Benign
3	53126177	G	T	G53126177T	RFT1	NM_052859.4(RFT1):c.64-183C>A	noncoding	Benign
3	53126200	T	C	T53126200C	RFT1	NM_052859.4(RFT1):c.64-206A>G	noncoding	Benign
3	53126227	G	A	G53126227A	RFT1	NM_052859.4(RFT1):c.64-233C>T	noncoding	Benign
3	53126253	A	T	A53126253T	RFT1	NM_052859.4(RFT1):c.64-259T>A	noncoding	Benign
3	53126254	C	T	C53126254T	RFT1	NM_052859.4(RFT1):c.64-260G>A	noncoding	Benign
3	53126255	C	T	C53126255T	RFT1	NM_052859.4(RFT1):c.64-261G>A	noncoding	Benign
3	53130078	C	T	C53130078T	RFT1	NM_052859.4(RFT1):c.63+260G>A	noncoding	Benign
3	53130177	C	T	C53130177T	RFT1	NM_052859.4(RFT1):c.63+161G>A	noncoding	Benign
3	53130787	C	T	C53130787T	RFT1	Single_allele	noncoding	Benign
3	53178163	C	T	C53178163T	PRKCD	NM_006254.4(PRKCD):c.-19-241C>T	noncoding	Benign
3	53178196	C	A	C53178196A	PRKCD	NM_006254.4(PRKCD):c.-19-208C>A	noncoding	Benign
3	53178367	C	T	C53178367T	PRKCD	NM_006254.4(PRKCD):c.-19-37C>T	noncoding	Benign
3	53178551	C	G	C53178551G	PRKCD	NM_006254.4(PRKCD):c.115+14C>G	noncoding	Benign
3	53178558	C	G	C53178558G	PRKCD	NM_006254.4(PRKCD):c.115+21C>G	noncoding	Benign
3	53178700	C	T	C53178700T	PRKCD	NM_006254.4(PRKCD):c.115+163C>T	noncoding	Benign
3	53179522	C	G	C53179522G	PRKCD	NM_006254.4(PRKCD):c.116-55C>G	noncoding	Benign
3	53179746	C	A	C53179746A	PRKCD	NM_006254.4(PRKCD):c.285C>A:p.Cys95Ter	coding	Pathogenic
3	53179954	C	T	C53179954T	PRKCD	NM_006254.4(PRKCD):c.315+178C>T	noncoding	Benign
3	53181125	C	A	C53181125A	PRKCD	NM_006254.4(PRKCD):c.316-82C>A	noncoding	Benign
3	53181619	C	T	C53181619T	PRKCD	NM_006254.4(PRKCD):c.539+13C>T	noncoding	Benign
3	53181783	G	A	G53181783A	PRKCD	NM_006254.4(PRKCD):c.571+51G>A	noncoding	Benign
3	53181859	A	C	A53181859C	PRKCD	NM_006254.4(PRKCD):c.571+127A>C	noncoding	Benign
3	53183397	A	G	A53183397G	PRKCD	NM_006254.4(PRKCD):c.658-55A>G	noncoding	Benign
3	53186113	G	T	G53186113T	PRKCD	NM_006254.4(PRKCD):c.1087-54G>T	noncoding	Benign
3	53186359	G	A	G53186359A	PRKCD	NM_006254.4(PRKCD):c.1260+19G>A	noncoding	Benign
3	53186428	T	C	T53186428C	PRKCD	NM_006254.4(PRKCD):c.1260+88T>C	noncoding	Benign
3	53186553	G	A	G53186553A	PRKCD	NM_006254.4(PRKCD):c.1261-51G>A	noncoding	Benign
3	53187371	C	T	C53187371T	PRKCD	NM_006254.4(PRKCD):c.1384C>T:p.Gln462Ter	coding	Pathogenic
3	53187421	C	T	C53187421T	PRKCD	NM_006254.4(PRKCD):c.1415+19C>T	noncoding	Benign
3	53187494	C	T	C53187494T	PRKCD	NM_006254.4(PRKCD):c.1415+92C>T	noncoding	Benign
3	53189275	T	G	T53189275G	PRKCD	NM_006254.4(PRKCD):c.1743+29T>G	noncoding	Benign
3	53225980	G	A	G53225980A	TKT	NM_001064.4(TKT):c.1697-49C>T	noncoding	Benign
3	53229184	C	G	C53229184G	TKT	NM_001064.4(TKT):c.1265-47G>C	noncoding	Benign
3	53229263	A	G	A53229263G	TKT	NM_001064.4(TKT):c.1264+17T>C	noncoding	Benign
3	53231565	C	T	C53231565T	TKT	NM_001064.4(TKT):c.749-15G>A	noncoding	Benign
3	53233117	G	C	G53233117C	TKT	NM_001064.4(TKT):c.748+39C>G	noncoding	Benign
3	53233139	G	A	G53233139A	TKT	NM_001064.4(TKT):c.748+17C>T	noncoding	Benign
3	53235030	T	C	T53235030C	TKT	NM_001064.4(TKT):c.582A>G:p.Pro194=	coding	Benign
3	53235147	G	A	G53235147A	TKT	NM_001064.4(TKT):c.465C>T:p.Asp155=	coding	Benign
3	53494986	T	A	T53494986A	CACNA1D	NM_001128840.3(CACNA1D):c.-181T>A	noncoding	Benign
3	53495113	T	C	T53495113C	CACNA1D	NM_001128840.3(CACNA1D):c.-54T>C	noncoding	Benign
3	53497144	C	T	C53497144T	CACNA1D	NM_001128840.3(CACNA1D):c.68-8C>T	noncoding	Benign/Likely_benign
3	53497474	T	G	T53497474G	CACNA1D	NM_001128840.3(CACNA1D):c.377+13T>G	noncoding	Benign/Likely_benign
3	53650976	G	A	G53650976A	CACNA1D	NM_001128840.3(CACNA1D):c.623+58G>A	noncoding	Benign
3	53660492	T	C	T53660492C	CACNA1D	NM_001128840.3(CACNA1D):c.766+217T>C	noncoding	Benign
3	53665500	A	G	A53665500G	CACNA1D	NM_001128840.3(CACNA1D):c.767-160A>G	noncoding	Benign
3	53665718	C	T	C53665718T	CACNA1D	NM_001128840.3(CACNA1D):c.825C>T:p.Ala275=	coding	Benign/Likely_benign
3	53666055	A	G	A53666055G	CACNA1D	NM_001128840.3(CACNA1D):c.919+243A>G	noncoding	Benign
3	53666277	G	A	G53666277A	CACNA1D	NM_001128840.3(CACNA1D):c.920-62G>A	noncoding	Benign
3	53666326	G	C	G53666326C	CACNA1D	NM_001128840.3(CACNA1D):c.920-13G>C	noncoding	Benign/Likely_benign
3	53666442	C	T	C53666442T	CACNA1D	NM_001128840.3(CACNA1D):c.1023C>T:p.Asn341=	coding	Benign/Likely_benign
3	53666677	A	G	A53666677G	CACNA1D	NM_001128840.3(CACNA1D):c.1116+142A>G	noncoding	Benign
3	53666715	T	G	T53666715G	CACNA1D	NM_001128840.3(CACNA1D):c.1116+180T>G	noncoding	Benign
3	53672736	C	T	C53672736T	CACNA1D	NM_001128840.3(CACNA1D):c.1117-287C>T	noncoding	Benign
3	53702530	A	T	A53702530T	CACNA1D	NM_001128840.3(CACNA1D):c.1221-111A>T	noncoding	Benign
3	53718093	T	C	T53718093C	CACNA1D	NM_001128840.3(CACNA1D):c.1391-208T>C	noncoding	Benign
3	53718268	G	A	G53718268A	CACNA1D	NM_001128840.3(CACNA1D):c.1391-33G>A	noncoding	Benign
3	53718501	C	T	C53718501T	CACNA1D	NM_001128840.3(CACNA1D):c.1478+113C>T	noncoding	Benign
3	53719031	G	A	G53719031A	CACNA1D	NM_001128840.3(CACNA1D):c.1478+643G>A	noncoding	Benign
3	53719809	C	T	C53719809T	CACNA1D	NM_001128840.3(CACNA1D):c.1505+28C>T	noncoding	Benign
3	53722493	C	A	C53722493A	CACNA1D	NM_001128840.3(CACNA1D):c.1666+19C>A	noncoding	Benign
3	53723132	A	C	A53723132C	CACNA1D	NM_001128840.3(CACNA1D):c.1667-302A>C	noncoding	Benign
3	53723226	A	G	A53723226G	CACNA1D	NM_001128840.3(CACNA1D):c.1667-208A>G	noncoding	Benign
3	53724022	G	A	G53724022A	CACNA1D	NM_001128840.3(CACNA1D):c.2100+23G>A	noncoding	Benign
3	53724222	C	T	C53724222T	CACNA1D	NM_001128840.3(CACNA1D):c.2100+223C>T	noncoding	Benign
3	53727044	G	C	G53727044C	CACNA1D	NM_001128840.3(CACNA1D):c.2221+45G>C	noncoding	Benign
3	53727290	C	T	C53727290T	CACNA1D	NM_001128840.3(CACNA1D):c.2221+291C>T	noncoding	Benign
3	53730134	G	A	G53730134A	CACNA1D	NM_001128840.3(CACNA1D):c.2222-308G>A	noncoding	Benign
3	53730175	T	A	T53730175A	CACNA1D	NM_001128840.3(CACNA1D):c.2222-267T>A	noncoding	Benign
3	53730441	G	A	G53730441A	CACNA1D	NM_001128840.3(CACNA1D):c.2222-1G>A	noncoding	Pathogenic
3	53731421	A	G	A53731421G	CACNA1D	NM_001128840.3(CACNA1D):c.2406+275A>G	noncoding	Benign
3	53731894	A	G	A53731894G	CACNA1D	NM_001128840.3(CACNA1D):c.2407-122A>G	noncoding	Benign
3	53732185	A	T	A53732185T	CACNA1D	NM_001128840.3(CACNA1D):c.2473+103A>T	noncoding	Benign
3	53732257	G	A	G53732257A	CACNA1D	NM_001128840.3(CACNA1D):c.2473+175G>A	noncoding	Benign
3	53735738	G	A	G53735738A	CACNA1D	NM_001128840.3(CACNA1D):c.2751+235G>A	noncoding	Benign
3	53740563	A	G	A53740563G	CACNA1D	NM_001128840.3(CACNA1D):c.2811+224A>G	noncoding	Benign
3	53742651	A	G	A53742651G	CACNA1D	NM_001128840.3(CACNA1D):c.2812-360A>G	noncoding	Benign
3	53742830	C	G	C53742830G	CACNA1D	NM_001128840.3(CACNA1D):c.2812-181C>G	noncoding	Benign
3	53742845	T	G	T53742845G	CACNA1D	NM_001128840.3(CACNA1D):c.2812-166T>G	noncoding	Benign
3	53742968	T	C	T53742968C	CACNA1D	NM_001128840.3(CACNA1D):c.2812-43T>C	noncoding	Benign
3	53742990	C	A	C53742990A	CACNA1D	NM_001128840.3(CACNA1D):c.2812-21C>A	noncoding	Benign
3	53743149	T	C	T53743149C	CACNA1D	NM_001128840.3(CACNA1D):c.2918+32T>C	noncoding	Benign
3	53744593	C	G	C53744593G	CACNA1D	NM_001128840.3(CACNA1D):c.2919-147C>G	noncoding	Benign
3	53744594	G	A	G53744594A	CACNA1D	NM_001128840.3(CACNA1D):c.2919-146G>A	noncoding	Benign
3	53744848	G	T	G53744848T	CACNA1D	NM_001128840.3(CACNA1D):c.3006+21G>T	noncoding	Benign
3	53744966	C	T	C53744966T	CACNA1D	NM_001128840.3(CACNA1D):c.3006+139C>T	noncoding	Benign
3	53745553	G	C	G53745553C	CACNA1D	NM_001128840.3(CACNA1D):c.3007-71G>C	noncoding	Benign
3	53745749	A	G	A53745749G	CACNA1D	NM_001128840.3(CACNA1D):c.3114+18A>G	noncoding	Benign
3	53745798	A	G	A53745798G	CACNA1D	NM_001128840.3(CACNA1D):c.3115-25A>G	noncoding	Benign
3	53746054	C	T	C53746054T	CACNA1D	NM_001128840.3(CACNA1D):c.3167+179C>T	noncoding	Benign
3	53746055	A	G	A53746055G	CACNA1D	NM_001128840.3(CACNA1D):c.3167+180A>G	noncoding	Benign
3	53747008	T	A	T53747008A	CACNA1D	NM_001128840.3(CACNA1D):c.3168-294T>A	noncoding	Benign
3	53747042	G	A	G53747042A	CACNA1D	NM_001128840.3(CACNA1D):c.3168-260G>A	noncoding	Benign
3	53747386	C	T	C53747386T	CACNA1D	NM_001128840.3(CACNA1D):c.3252C>T:p.Phe1084=	coding	Benign
3	53747710	A	G	A53747710G	CACNA1D	NM_001128840.3(CACNA1D):c.3314+262A>G	noncoding	Benign
3	53749187	G	A	G53749187A	CACNA1D	NM_001128840.3(CACNA1D):c.3315-81G>A	noncoding	Benign
3	53749670	G	A	G53749670A	CACNA1D	NM_001128840.3(CACNA1D):c.3516+201G>A	noncoding	Benign
3	53749724	G	A	G53749724A	CACNA1D	NM_001128840.3(CACNA1D):c.3516+255G>A	noncoding	Benign
3	53749757	T	G	T53749757G	CACNA1D	NM_001128840.3(CACNA1D):c.3516+288T>G	noncoding	Benign
3	53749758	A	C	A53749758C	CACNA1D	NM_001128840.3(CACNA1D):c.3516+289A>C	noncoding	Benign
3	53751513	C	T	C53751513T	CACNA1D	NM_001128840.3(CACNA1D):c.3517-236C>T	noncoding	Benign
3	53751723	G	A	G53751723A	CACNA1D	NM_001128840.3(CACNA1D):c.3517-26G>A	noncoding	Benign
3	53753553	C	A	C53753553A	CACNA1D	NM_001128840.3(CACNA1D):c.3676-19C>A	noncoding	Benign
3	53761777	C	T	C53761777T	CACNA1D	NM_001128840.3(CACNA1D):c.3787-221C>T	noncoding	Benign
3	53762065	C	T	C53762065T	CACNA1D	NM_001128840.3(CACNA1D):c.3854C>T:p.Ala1285Val	coding	Benign/Likely_benign
3	53762307	T	C	T53762307C	CACNA1D	NM_001128840.3(CACNA1D):c.3870+226T>C	noncoding	Benign
3	53762359	A	G	A53762359G	CACNA1D	NM_001128840.3(CACNA1D):c.3870+278A>G	noncoding	Benign
3	53769657	C	T	C53769657T	CACNA1D	NM_001128840.3(CACNA1D):c.3871-316C>T	noncoding	Benign
3	53770774	C	T	C53770774T	CACNA1D	NM_001128840.3(CACNA1D):c.4044+222C>T	noncoding	Benign
3	53772776	G	C	G53772776C	CACNA1D	NM_001128840.3(CACNA1D):c.4045-57G>C	noncoding	Benign
3	53772790	G	A	G53772790A	CACNA1D	NM_001128840.3(CACNA1D):c.4045-43G>A	noncoding	Benign
3	53772917	G	C	G53772917C	CACNA1D	NM_001128840.3(CACNA1D):c.4110+19G>C	noncoding	Benign/Likely_benign
3	53773121	C	T	C53773121T	CACNA1D	NM_001128840.3(CACNA1D):c.4110+223C>T	noncoding	Benign
3	53774723	G	A	G53774723A	CACNA1D	NM_001128840.3(CACNA1D):c.4202+45G>A	noncoding	Benign
3	53780143	C	T	C53780143T	CACNA1D	NM_001128840.3(CACNA1D):c.4690+15C>T	noncoding	Benign
3	53780170	G	A	G53780170A	CACNA1D	NM_001128840.3(CACNA1D):c.4690+42G>A	noncoding	Benign
3	53780281	C	T	C53780281T	CACNA1D	NM_001128840.3(CACNA1D):c.4690+153C>T	noncoding	Benign
3	53780389	G	A	G53780389A	CACNA1D	NM_001128840.3(CACNA1D):c.4690+261G>A	noncoding	Benign
3	53781290	A	C	A53781290C	CACNA1D	NM_001128840.3(CACNA1D):c.4691-276A>C	noncoding	Benign
3	53781838	G	A	G53781838A	CACNA1D	NM_001128840.3(CACNA1D):c.4792+171G>A	noncoding	Benign
3	53787180	C	T	C53787180T	CACNA1D	NM_001128840.3(CACNA1D):c.4923+228C>T	noncoding	Benign
3	53787234	T	G	T53787234G	CACNA1D	NM_001128840.3(CACNA1D):c.4923+282T>G	noncoding	Benign
3	53800064	C	A	C53800064A	CACNA1D	NM_001128840.3(CACNA1D):c.4924-185C>A	noncoding	Benign
3	53800302	G	A	G53800302A	CACNA1D	NM_001128840.3(CACNA1D):c.4977G>A:p.Ser1659=	coding	Benign/Likely_benign
3	53802438	G	A	G53802438A	CACNA1D	NM_001128840.3(CACNA1D):c.5435+265G>A	noncoding	Benign
3	53803219	T	C	T53803219C	CACNA1D	NM_001128840.3(CACNA1D):c.5436-204T>C	noncoding	Benign
3	53803761	A	G	A53803761G	CACNA1D	NM_001128840.3(CACNA1D):c.5585+189A>G	noncoding	Benign
3	53803796	G	T	G53803796T	CACNA1D	NM_001128840.3(CACNA1D):c.5585+224G>T	noncoding	Benign
3	53805443	T	A	T53805443A	CACNA1D	NM_001128840.3(CACNA1D):c.5749+297T>A	noncoding	Benign
3	53809816	C	T	C53809816T	CACNA1D	NM_001128840.3(CACNA1D):c.5872-162C>T	noncoding	Benign
3	54562940	A	C	A54562940C	CACNA2D3	NM_018398.3(CACNA2D3):c.676+9A>C	noncoding	Benign
3	55074122	A	G	A55074122G	CACNA2D3	NM_018398.3(CACNA2D3):c.3192A>G:p.Ala1064=	coding	Benign
3	55468223	G	A	G55468223A	WNT5A	NM_003392.7(WNT5A):c.*1869C>T	noncoding	Benign
3	55470405	C	T	C55470405T	WNT5A	NM_003392.7(WNT5A):c.830G>A:p.Arg277Gln	coding	Benign
3	55470702	A	G	A55470702G	WNT5A	NM_003392.7(WNT5A):c.685-152T>C	noncoding	Benign
3	55474047	C	T	C55474047T	WNT5A	NM_003392.7(WNT5A):c.684+290G>A	noncoding	Benign
3	55474074	G	A	G55474074A	WNT5A	NM_003392.7(WNT5A):c.684+263C>T	noncoding	Benign
3	55474565	C	T	C55474565T	WNT5A	NM_003392.7(WNT5A):c.456G>A:p.Arg152=	coding	Benign
3	55479373	C	T	C55479373T	WNT5A	NM_003392.7(WNT5A):c.332G>A:p.Arg111Gln	coding	Benign
3	55479499	C	A	C55479499A	WNT5A	NM_003392.7(WNT5A):c.206G>T:p.Cys69Phe	coding	Pathogenic
3	55480738	A	T	A55480738T	WNT5A	NM_003392.7(WNT5A):c.140+47T>A	noncoding	Benign
3	55480905	A	G	A55480905G	WNT5A	NM_003392.7(WNT5A):c.20T>C:p.Ile7Thr	coding	Benign
3	55481249	C	T	C55481249T	WNT5A	NM_003392.7(WNT5A):c.7-331G>A	noncoding	Benign
3	55486750	T	G	T55486750G	WNT5A	NM_003392.7(WNT5A):c.6+230A>C	noncoding	Benign
3	55487689	C	A	C55487689A	WNT5A	Single_allele	noncoding	Benign
3	57096631	C	T	C57096631T	IL17RD	NM_017563.5(IL17RD):c.2108-126G>A	noncoding	Benign
3	57097501	A	C	A57097501C	IL17RD	NM_017563.5(IL17RD):c.2107+95T>G	noncoding	Benign
3	57098007	G	A	G57098007A	IL17RD	NM_017563.5(IL17RD):c.1696C>T:p.Pro566Ser	coding	Benign
3	57098172	A	G	A57098172G	IL17RD	NM_017563.5(IL17RD):c.1531T>C:p.Leu511=	coding	Benign
3	57101490	C	G	C57101490G	IL17RD	NM_017563.5(IL17RD):c.980-127G>C	noncoding	Benign
3	57102557	C	T	C57102557T	IL17RD	NM_017563.5(IL17RD):c.901G>A:p.Val301Met	coding	Benign
3	57103062	A	G	A57103062G	IL17RD	NM_017563.5(IL17RD):c.868+29T>C	noncoding	Benign
3	57103433	C	A	C57103433A	IL17RD	NM_017563.5(IL17RD):c.814-288G>T	noncoding	Benign
3	57104200	T	A	T57104200A	IL17RD	NM_017563.5(IL17RD):c.813+142A>T	noncoding	Benign
3	57104391	G	A	G57104391A	IL17RD	NM_017563.5(IL17RD):c.764C>T:p.Thr255Met	coding	Benign
3	57105805	G	A	G57105805A	IL17RD	NM_017563.5(IL17RD):c.747+52C>T	noncoding	Benign
3	57105944	A	G	A57105944G	IL17RD	NM_017563.5(IL17RD):c.660T>C:p.His220=	coding	Benign
3	57106080	G	A	G57106080A	IL17RD	NM_017563.5(IL17RD):c.595+30C>T	noncoding	Benign
3	57106420	G	A	G57106420A	IL17RD	NM_017563.5(IL17RD):c.551-266C>T	noncoding	Benign
3	57109822	G	C	G57109822C	IL17RD	NM_017563.5(IL17RD):c.430-165C>G	noncoding	Benign
3	57109914	C	T	C57109914T	IL17RD	NM_017563.5(IL17RD):c.430-257G>A	noncoding	Benign
3	57109931	T	C	T57109931C	IL17RD	NM_017563.5(IL17RD):c.429+262A>G	noncoding	Benign
3	57109967	A	G	A57109967G	IL17RD	NM_017563.5(IL17RD):c.429+226T>C	noncoding	Benign
3	57110000	C	T	C57110000T	IL17RD	NM_017563.5(IL17RD):c.429+193G>A	noncoding	Benign
3	57110642	T	C	T57110642C	IL17RD	NM_017563.5(IL17RD):c.311-331A>G	noncoding	Benign
3	57114940	C	A	C57114940A	IL17RD	NM_017563.5(IL17RD):c.185-123G>T	noncoding	Benign
3	57165110	T	C	T57165110C	IL17RD	NM_017563.5(IL17RD):c.126+51A>G	noncoding	Benign
3	57165115	C	T	C57165115T	IL17RD	NM_017563.5(IL17RD):c.126+46G>A	noncoding	Benign
3	57165322	C	A	C57165322A	IL17RD	NM_017563.5(IL17RD):c.-36G>T	noncoding	Benign
3	57227866	C	T	C57227866T	APPL1	NM_012096.3(APPL1):c.-18C>T	noncoding	Benign
3	57227892	G	A	G57227892A	APPL1	NM_012096.3(APPL1):c.9G>A:p.Gly3=	coding	Benign
3	57227919	G	C	G57227919C	APPL1	NM_012096.3(APPL1):c.36G>C:p.Thr12=	coding	Benign
3	57228000	C	T	C57228000T	APPL1	NM_012096.3(APPL1):c.54+63C>T	noncoding	Benign
3	57235580	A	G	A57235580G	APPL1	NM_012096.3(APPL1):c.69A>G:p.Leu23=	coding	Benign
3	57237538	A	G	A57237538G	APPL1	NM_012096.3(APPL1):c.200A>G:p.Glu67Gly	coding	Benign
3	57237885	G	A	G57237885A	APPL1	NM_012096.3(APPL1):c.214-160G>A	noncoding	Benign
3	57238122	C	T	C57238122T	APPL1	NM_012096.3(APPL1):c.285+6C>T	noncoding	Benign
3	57246227	A	G	A57246227G	APPL1	NM_012096.3(APPL1):c.621+5A>G	noncoding	Benign
3	57247555	T	C	T57247555C	APPL1	NM_012096.3(APPL1):c.704+78T>C	noncoding	Benign
3	57247982	T	C	T57247982C	APPL1	NM_012096.3(APPL1):c.705-211T>C	noncoding	Benign
3	57248644	C	T	C57248644T	APPL1	NM_012096.3(APPL1):c.863+293C>T	noncoding	Benign
3	57249579	T	C	T57249579C	APPL1	NM_012096.3(APPL1):c.1052+31T>C	noncoding	Benign
3	57257260	C	T	C57257260T	APPL1	NM_012096.3(APPL1):c.1262C>T:p.Pro421Leu	coding	Benign
3	57259269	T	C	T57259269C	APPL1	NM_012096.3(APPL1):c.1483+189T>C	noncoding	Benign
3	57259774	A	G	A57259774G	APPL1	NM_012096.3(APPL1):c.1484-71A>G	noncoding	Benign
3	57260057	C	G	C57260057G	APPL1	NM_012096.3(APPL1):c.1658+38C>G	noncoding	Benign
3	57260201	T	C	T57260201C	APPL1	NM_012096.3(APPL1):c.1695+48T>C	noncoding	Benign
3	57260267	T	C	T57260267C	APPL1	NM_012096.3(APPL1):c.1695+114T>C	noncoding	Benign
3	57269656	A	G	A57269656G	APPL1	NM_012096.3(APPL1):c.2099A>G:p.Glu700Gly	coding	Benign
3	57757519	G	A	G57757519A	SLMAP	NM_001377540.1(SLMAP):c.-133G>A	noncoding	Benign
3	57831508	C	T	C57831508T	SLMAP	NM_001377540.1(SLMAP):c.324C>T:p.Asp108=	coding	Benign
3	57831768	A	G	A57831768G	SLMAP	NM_001377540.1(SLMAP):c.346+238A>G	noncoding	Benign
3	57841127	G	A	G57841127A	SLMAP	NM_001377540.1(SLMAP):c.347-172G>A	noncoding	Benign
3	57841157	A	G	A57841157G	SLMAP	NM_001377540.1(SLMAP):c.347-142A>G	noncoding	Benign
3	57841538	A	G	A57841538G	SLMAP	NM_001377540.1(SLMAP):c.419+167A>G	noncoding	Benign
3	57847096	C	T	C57847096T	SLMAP	NM_001377540.1(SLMAP):c.420-101C>T	noncoding	Benign
3	57858123	A	G	A57858123G	SLMAP	NM_001377540.1(SLMAP):c.651A>G:p.Leu217=	coding	Benign/Likely_benign
3	57858364	A	G	A57858364G	SLMAP	NM_001377540.1(SLMAP):c.687+205A>G	noncoding	Benign
3	57861796	T	C	T57861796C	SLMAP	NM_001377540.1(SLMAP):c.829-153T>C	noncoding	Benign
3	57861934	A	G	A57861934G	SLMAP	NM_001377540.1(SLMAP):c.829-15A>G	noncoding	Benign
3	57890029	T	C	T57890029C	SLMAP	NM_001377540.1(SLMAP):c.1301-12T>C	coding	Benign
3	57890204	T	C	T57890204C	SLMAP	NM_001377540.1(SLMAP):c.1360+104T>C	noncoding	Benign
3	57907780	A	G	A57907780G	SLMAP	NM_001377540.1(SLMAP):c.1502-104A>G	noncoding	Benign
3	57908316	T	C	T57908316C	SLMAP	NM_001377540.1(SLMAP):c.1624+310T>C	noncoding	Benign
3	57912084	T	A	T57912084A	SLMAP	NM_001377540.1(SLMAP):c.1700-297T>A	noncoding	Benign
3	57912158	A	G	A57912158G	SLMAP	NM_001377540.1(SLMAP):c.1700-223A>G	noncoding	Benign
3	57912385	A	G	A57912385G	SLMAP	NM_001377540.1(SLMAP):c.1704A>G:p.Gln568=	coding	Benign
3	57912457	T	C	T57912457C	SLMAP	NM_001377540.1(SLMAP):c.1776T>C:p.Asp592=	coding	Benign/Likely_benign
3	57912721	A	G	A57912721G	SLMAP	NM_001377540.1(SLMAP):c.2020+20A>G	noncoding	Benign
3	58008150	G	A	G58008150A	FLNB	Single_allele	noncoding	Benign
3	58008194	C	T	C58008194T	FLNB	Single_allele	noncoding	Benign
3	58008838	A	G	A58008838G	FLNB	NM_001457.4(FLNB):c.274A>G:p.Ile92Val	coding	Benign/Likely_benign
3	58008868	G	C	G58008868C	FLNB	NM_001457.4(FLNB):c.292+12G>C	noncoding	Benign/Likely_benign
3	58008870	C	G	C58008870G	FLNB	NM_001457.4(FLNB):c.292+14C>G	noncoding	Benign/Likely_benign
3	58076884	C	A	C58076884A	FLNB	NM_001457.4(FLNB):c.293-162C>A	noncoding	Benign
3	58076987	A	T	A58076987T	FLNB	NM_001457.4(FLNB):c.293-59A>T	noncoding	Benign
3	58077029	T	G	T58077029G	FLNB	NM_001457.4(FLNB):c.293-17T>G	noncoding	Benign
3	58077254	C	G	C58077254G	FLNB	NM_001457.4(FLNB):c.501C>G:p.Asp167Glu	coding	Pathogenic
3	58078788	G	T	G58078788T	FLNB	NM_001457.4(FLNB):c.613G>T:p.Ala205Ser	coding	Pathogenic
3	58094673	C	T	C58094673T	FLNB	NM_001457.4(FLNB):c.788-163C>T	noncoding	Benign
3	58094778	G	T	G58094778T	FLNB	NM_001457.4(FLNB):c.788-58G>T	noncoding	Benign
3	58095280	G	C	G58095280C	FLNB	NM_001457.4(FLNB):c.906+326G>C	noncoding	Benign
3	58097719	G	A	G58097719A	FLNB	NM_001457.4(FLNB):c.985-96G>A	noncoding	Benign
3	58098806	C	T	C58098806T	FLNB	NM_001457.4(FLNB):c.1243C>T:p.Arg415Ter	coding	Pathogenic
3	58103858	T	A	T58103858A	FLNB	NM_001457.4(FLNB):c.1484-101T>A	noncoding	Benign
3	58104150	A	G	A58104150G	FLNB	NM_001457.4(FLNB):c.1610+65A>G	noncoding	Benign
3	58106477	A	T	A58106477T	FLNB	NM_001457.4(FLNB):c.1748-203A>T	noncoding	Benign
3	58106479	A	T	A58106479T	FLNB	NM_001457.4(FLNB):c.1748-201A>T	noncoding	Benign
3	58106481	A	T	A58106481T	FLNB	NM_001457.4(FLNB):c.1748-199A>T	noncoding	Benign
3	58108430	A	G	A58108430G	FLNB	NM_001457.4(FLNB):c.1942-28A>G	noncoding	Benign
3	58108792	G	A	G58108792A	FLNB	NM_001457.4(FLNB):c.2055+221G>A	noncoding	Benign
3	58109125	C	T	C58109125T	FLNB	NM_001457.4(FLNB):c.2056-54C>T	noncoding	Benign
3	58109535	A	G	A58109535G	FLNB	NM_001457.4(FLNB):c.2200-41A>G	noncoding	Benign
3	58109739	G	T	G58109739T	FLNB	NM_001457.4(FLNB):c.2323+40G>T	noncoding	Benign
3	58109773	G	T	G58109773T	FLNB	NM_001457.4(FLNB):c.2323+74G>T	noncoding	Benign
3	58110218	T	G	T58110218G	FLNB	NM_001457.4(FLNB):c.2484+48T>G	noncoding	Benign
3	58111630	C	T	C58111630T	FLNB	NM_001457.4(FLNB):c.2485-161C>T	noncoding	Benign
3	58111669	T	C	T58111669C	FLNB	NM_001457.4(FLNB):c.2485-122T>C	noncoding	Benign
3	58112335	C	G	C58112335G	FLNB	NM_001457.4(FLNB):c.2745+17C>G	noncoding	Benign
3	58121817	C	T	C58121817T	FLNB	NM_001457.4(FLNB):c.3126+314C>T	noncoding	Benign
3	58124140	C	T	C58124140T	FLNB	NM_001457.4(FLNB):c.3725-192C>T	noncoding	Benign
3	58124394	G	A	G58124394A	FLNB	NM_001457.4(FLNB):c.3787G>A:p.Gly1263Ser	coding	Benign
3	58124480	G	C	G58124480C	FLNB	NM_001457.4(FLNB):c.3873G>C:p.Gln1291His	coding	Benign
3	58124524	G	A	G58124524A	FLNB	NM_001457.4(FLNB):c.3898+19G>A	noncoding	Benign/Likely_benign
3	58124533	C	G	C58124533G	FLNB	NM_001457.4(FLNB):c.3898+28C>G	noncoding	Benign
3	58125558	T	G	T58125558G	FLNB	NM_001457.4(FLNB):c.3899-23T>G	noncoding	Benign
3	58126524	A	G	A58126524G	FLNB	NM_001457.4(FLNB):c.4062-78A>G	noncoding	Benign
3	58126781	A	C	A58126781C	FLNB	NM_001457.4(FLNB):c.4222+19A>C	noncoding	Benign/Likely_benign
3	58126829	G	C	G58126829C	FLNB	NM_001457.4(FLNB):c.4222+67G>C	noncoding	Benign
3	58130631	C	G	C58130631G	FLNB	NM_001457.4(FLNB):c.4223-110C>G	noncoding	Benign
3	58130631	C	T	C58130631T	FLNB	NM_001457.4(FLNB):c.4223-110C>T	noncoding	Benign
3	58130642	T	C	T58130642C	FLNB	NM_001457.4(FLNB):c.4223-99T>C	noncoding	Benign
3	58130693	G	T	G58130693T	FLNB	NM_001457.4(FLNB):c.4223-48G>T	noncoding	Benign
3	58131734	G	A	G58131734A	FLNB	NM_001457.4(FLNB):c.4390+826G>A	noncoding	Benign
3	58131997	G	A	G58131997A	FLNB	NM_001457.4(FLNB):c.4391-811G>A	coding	Benign
3	58132105	T	C	T58132105C	FLNB	NM_001457.4(FLNB):c.4391-703T>C	noncoding	Benign
3	58132973	A	G	A58132973G	FLNB	NM_001457.4(FLNB):c.4514+42A>G	noncoding	Benign
3	58133231	G	T	G58133231T	FLNB	NM_001457.4(FLNB):c.4514+300G>T	noncoding	Benign
3	58133239	C	T	C58133239T	FLNB	NM_001457.4(FLNB):c.4514+308C>T	noncoding	Benign
3	58135899	T	A	T58135899A	FLNB	NM_001457.4(FLNB):c.4672-80T>A	noncoding	Benign
3	58136114	C	T	C58136114T	FLNB	NM_001457.4(FLNB):c.4807C>T:p.Pro1603Ser	coding	Pathogenic
3	58136255	C	T	C58136255T	FLNB	NM_001457.4(FLNB):c.4861+87C>T	noncoding	Benign
3	58138492	G	A	G58138492A	FLNB	NM_001457.4(FLNB):c.5072G>A:p.Gly1691Asp	coding	Pathogenic/Likely_pathogenic
3	58146027	C	T	C58146027T	FLNB	NM_001457.4(FLNB):c.5532C>T:p.Ile1844=	coding	Benign/Likely_benign
3	58148319	C	T	C58148319T	FLNB	NM_001457.4(FLNB):c.5842C>T:p.Arg1948Ter	coding	Pathogenic
3	58149905	G	A	G58149905A	FLNB	NM_001457.4(FLNB):c.6147G>A:p.Thr2049=	coding	Benign
3	58153061	C	T	C58153061T	FLNB	NM_001457.4(FLNB):c.6368-314C>T	noncoding	Benign
3	58153670	G	T	G58153670T	FLNB	NM_001457.4(FLNB):c.6634+29G>T	noncoding	Benign
3	58153675	G	A	G58153675A	FLNB	NM_001457.4(FLNB):c.6634+34G>A	noncoding	Benign
3	58154884	A	G	A58154884G	FLNB	NM_001457.4(FLNB):c.6728A>G:p.His2243Arg	coding	Benign
3	58154911	A	T	A58154911T	FLNB	NM_001457.4(FLNB):c.6755A>T:p.Tyr2252Phe	coding	Benign/Likely_benign
3	58155761	C	T	C58155761T	FLNB	NM_001457.4(FLNB):c.6773-199C>T	noncoding	Benign
3	58155947	C	A	C58155947A	FLNB	NM_001457.4(FLNB):c.6773-13C>A	noncoding	Benign/Likely_benign
3	58168157	A	C	A58168157C	FLNB	NM_001457.4(FLNB):c.7199-283A>C	noncoding	Benign
3	58168241	G	A	G58168241A	FLNB	NM_001457.4(FLNB):c.7199-199G>A	noncoding	Benign
3	58168601	G	A	G58168601A	FLNB	NM_001457.4(FLNB):c.7360G>A:p.Val2454Ile	coding	Benign/Likely_benign
3	58168687	C	T	C58168687T	FLNB	NM_001457.4(FLNB):c.7417+29C>T	noncoding	Benign
3	58170300	T	C	T58170300C	FLNB	NM_001457.4(FLNB):c.7622-275T>C	noncoding	Benign
3	58170483	T	C	T58170483C	FLNB	NM_001457.4(FLNB):c.7622-92T>C	noncoding	Benign
3	58170702	G	A	G58170702A	FLNB	NM_001457.4(FLNB):c.7749G>A:p.Leu2583=	coding	Benign/Likely_benign
3	58200992	C	A	C58200992A	DNASE1L3	NM_004944.4(DNASE1L3):c.546+5G>T	noncoding	Benign
3	58205503	G	T	G58205503T	DNASE1L3	NM_004944.4(DNASE1L3):c.288C>A:p.Asn96Lys	coding	Benign
3	58205515	C	G	C58205515G	DNASE1L3	NM_004944.4(DNASE1L3):c.276G>C:p.Arg92=	coding	Benign
3	58205539	C	T	C58205539T	DNASE1L3	NM_004944.4(DNASE1L3):c.252G>A:p.Thr84=	coding	Benign
3	58208324	C	A	C58208324A	DNASE1L3	NM_004944.4(DNASE1L3):c.142-18G>T	noncoding	Benign
3	58210856	G	A	G58210856A	DNASE1L3	NM_004944.4(DNASE1L3):c.51C>T:p.Ser17=	coding	Benign
3	58428655	C	T	C58428655T	PDHB	NM_000925.4(PDHB):c.793-41G>A	noncoding	Benign
3	58429840	C	T	C58429840T	PDHB	NM_000925.4(PDHB):c.701-41G>A	noncoding	Benign
3	58429863	C	A	C58429863A	PDHB	NM_000925.4(PDHB):c.701-64G>T	noncoding	Benign
3	58431689	C	T	C58431689T	PDHB	NM_000925.4(PDHB):c.267+42G>A	noncoding	Benign
3	58433702	A	G	A58433702G	PDHB	NM_000925.4(PDHB):c.43-18T>C	coding	Benign
3	58433965	G	A	G58433965A	PDHB	Single_allele	noncoding	Benign
3	58434039	G	C	G58434039C	PDHB	Single_allele	noncoding	Benign
3	58526510	A	G	A58526510G	ACOX2	NM_003500.4(ACOX2):c.1302T>C:p.Cys434=	coding	Benign
3	58526558	T	C	T58526558C	ACOX2	NM_003500.4(ACOX2):c.1254A>G:p.Ser418=	coding	Benign
3	58526648	T	C	T58526648C	ACOX2	NM_003500.4(ACOX2):c.1164A>G:p.Ala388=	coding	Benign
3	58530453	G	A	G58530453A	ACOX2	NM_003500.4(ACOX2):c.992+13C>T	noncoding	Benign
3	58530656	G	A	G58530656A	ACOX2	NM_003500.4(ACOX2):c.820-18C>T	noncoding	Benign
3	58531793	A	G	A58531793G	ACOX2	NM_003500.4(ACOX2):c.603T>C:p.His201=	coding	Benign
3	58533426	G	C	G58533426C	ACOX2	NM_003500.4(ACOX2):c.583+19C>G	noncoding	Benign
3	58533976	G	A	G58533976A	ACOX2	NM_003500.4(ACOX2):c.475+18C>T	noncoding	Benign
3	58534160	T	G	T58534160G	ACOX2	NM_003500.4(ACOX2):c.324-15A>C	noncoding	Benign
3	58534358	A	G	A58534358G	ACOX2	NM_003500.4(ACOX2):c.323+2T>C	noncoding	Pathogenic
3	58534579	G	C	G58534579C	ACOX2	NM_003500.4(ACOX2):c.161-57C>G	noncoding	Benign
3	58535132	A	G	A58535132G	ACOX2	NM_003500.4(ACOX2):c.-26T>C	noncoding	Benign
3	63912871	G	C	G63912871C	ATXN7	NM_001377405.1(ATXN7):c.273G>C:p.Leu91=	coding	Benign/Likely_benign
3	63982458	T	A	T63982458A	ATXN7	NM_001377405.1(ATXN7):c.1012+13T>A	noncoding	Benign/Likely_benign
3	64147095	G	A	G64147095A	PRICKLE2	NM_198859.4(PRICKLE2):c.1395C>T:p.Ile465=	coding	Benign
3	64163060	G	A	G64163060A	PRICKLE2	NM_198859.4(PRICKLE2):c.214C>T:p.Arg72Ter	coding	Pathogenic
3	64522181	C	T	C64522181T	ADAMTS9	NM_182920.2(ADAMTS9):c.5798G>A:p.Arg1933Gln	coding	Benign
3	64532946	G	A	G64532946A	ADAMTS9	NM_182920.2(ADAMTS9):c.5718+220C>T	noncoding	Benign
3	64533318	T	C	T64533318C	ADAMTS9	NM_182920.2(ADAMTS9):c.5614-48A>G	noncoding	Benign
3	64533480	C	T	C64533480T	ADAMTS9	NM_182920.2(ADAMTS9):c.5614-210G>A	noncoding	Benign
3	64540891	A	G	A64540891G	ADAMTS9	NM_182920.2(ADAMTS9):c.5521+204T>C	noncoding	Benign
3	64540934	G	A	G64540934A	ADAMTS9	NM_182920.2(ADAMTS9):c.5521+161C>T	noncoding	Benign
3	64540936	T	C	T64540936C	ADAMTS9	NM_182920.2(ADAMTS9):c.5521+159A>G	noncoding	Benign
3	64541041	G	C	G64541041C	ADAMTS9	NM_182920.2(ADAMTS9):c.5521+54C>G	noncoding	Benign
3	64541266	A	C	A64541266C	ADAMTS9	NM_182920.2(ADAMTS9):c.5388-38T>G	noncoding	Benign
3	64541267	G	A	G64541267A	ADAMTS9	NM_182920.2(ADAMTS9):c.5388-39C>T	noncoding	Benign
3	64541452	A	C	A64541452C	ADAMTS9	NM_182920.2(ADAMTS9):c.5293-38T>G	noncoding	Benign
3	64541599	T	C	T64541599C	ADAMTS9	NM_182920.2(ADAMTS9):c.5219A>G:p.Lys1740Arg	coding	Benign
3	64541645	T	C	T64541645C	ADAMTS9	NM_182920.2(ADAMTS9):c.5198-25A>G	noncoding	Benign
3	64541660	C	T	C64541660T	ADAMTS9	NM_182920.2(ADAMTS9):c.5198-40G>A	noncoding	Benign
3	64541702	G	A	G64541702A	ADAMTS9	NM_182920.2(ADAMTS9):c.5198-82C>T	noncoding	Benign
3	64541789	C	A	C64541789A	ADAMTS9	NM_182920.2(ADAMTS9):c.5197+49G>T	noncoding	Benign
3	64541789	C	T	C64541789T	ADAMTS9	NM_182920.2(ADAMTS9):c.5197+49G>A	noncoding	Benign
3	64541825	T	C	T64541825C	ADAMTS9	NM_182920.2(ADAMTS9):c.5197+13A>G	noncoding	Benign
3	64541844	A	G	A64541844G	ADAMTS9	NM_182920.2(ADAMTS9):c.5191T>C:p.Tyr1731His	coding	Benign
3	64542128	C	T	C64542128T	ADAMTS9	NM_182920.2(ADAMTS9):c.5065-158G>A	noncoding	Benign
3	64542159	G	T	G64542159T	ADAMTS9	NM_182920.2(ADAMTS9):c.5065-189C>A	noncoding	Benign
3	64546578	A	G	A64546578G	ADAMTS9	NM_182920.2(ADAMTS9):c.5064+180T>C	noncoding	Benign
3	64546800	G	C	G64546800C	ADAMTS9	NM_182920.2(ADAMTS9):c.5022C>G:p.Asp1674Glu	coding	Benign
3	64547097	T	G	T64547097G	ADAMTS9	NM_182920.2(ADAMTS9):c.4870-145A>C	noncoding	Benign
3	64551018	C	A	C64551018A	ADAMTS9	NM_182920.2(ADAMTS9):c.4743G>T:p.Val1581=	coding	Benign
3	64551142	C	T	C64551142T	ADAMTS9	NM_182920.2(ADAMTS9):c.4699-80G>A	noncoding	Benign
3	64561502	T	C	T64561502C	ADAMTS9	NM_182920.2(ADAMTS9):c.4698+76A>G	coding	Benign
3	64561801	G	C	G64561801C	ADAMTS9	NM_182920.2(ADAMTS9):c.4525-50C>G	noncoding	Benign
3	64561826	C	T	C64561826T	ADAMTS9	NM_182920.2(ADAMTS9):c.4525-75G>A	noncoding	Benign
3	64568287	T	C	T64568287C	ADAMTS9	NM_182920.2(ADAMTS9):c.4524+81A>G	noncoding	Benign
3	64568578	T	C	T64568578C	ADAMTS9	NM_182920.2(ADAMTS9):c.4357-43A>G	noncoding	Benign
3	64568583	G	A	G64568583A	ADAMTS9	NM_182920.2(ADAMTS9):c.4357-48C>T	noncoding	Benign
3	64594105	T	C	T64594105C	ADAMTS9	NM_182920.2(ADAMTS9):c.4356+153A>G	noncoding	Benign
3	64594392	C	T	C64594392T	ADAMTS9	NM_182920.2(ADAMTS9):c.4222G>A:p.Val1408Ile	coding	Benign
3	64594459	C	A	C64594459A	ADAMTS9	NM_182920.2(ADAMTS9):c.4180-25G>T	noncoding	Benign
3	64594493	C	T	C64594493T	ADAMTS9	NM_182920.2(ADAMTS9):c.4180-59G>A	noncoding	Benign
3	64596812	C	G	C64596812G	ADAMTS9	NM_182920.2(ADAMTS9):c.4179+18G>C	noncoding	Benign
3	64596971	G	A	G64596971A	ADAMTS9	NM_182920.2(ADAMTS9):c.4038C>T:p.Gly1346=	coding	Benign
3	64597075	A	G	A64597075G	ADAMTS9	NM_182920.2(ADAMTS9):c.4018-84T>C	noncoding	Benign
3	64597176	A	G	A64597176G	ADAMTS9	NM_182920.2(ADAMTS9):c.4018-185T>C	noncoding	Benign
3	64601886	T	G	T64601886G	ADAMTS9	NM_182920.2(ADAMTS9):c.4017+58A>C	noncoding	Benign
3	64602142	G	A	G64602142A	ADAMTS9	NM_182920.2(ADAMTS9):c.3819C>T:p.Ile1273=	coding	Benign
3	64604131	T	C	T64604131C	ADAMTS9	NM_182920.2(ADAMTS9):c.3580-42A>G	noncoding	Benign
3	64604175	A	G	A64604175G	ADAMTS9	NM_182920.2(ADAMTS9):c.3579+52T>C	noncoding	Benign
3	64604284	C	T	C64604284T	ADAMTS9	NM_182920.2(ADAMTS9):c.3522G>A:p.Thr1174=	coding	Benign
3	64606946	C	T	C64606946T	ADAMTS9	NM_182920.2(ADAMTS9):c.3474+14G>A	noncoding	Benign
3	64613188	T	C	T64613188C	ADAMTS9	NM_182920.2(ADAMTS9):c.3354+157A>G	noncoding	Benign
3	64613603	T	C	T64613603C	ADAMTS9	NM_182920.2(ADAMTS9):c.3190-94A>G	noncoding	Benign
3	64615153	C	T	C64615153T	ADAMTS9	NM_182920.2(ADAMTS9):c.3189+168G>A	noncoding	Benign
3	64615182	A	G	A64615182G	ADAMTS9	NM_182920.2(ADAMTS9):c.3189+139T>C	noncoding	Benign
3	64615699	C	T	C64615699T	ADAMTS9	NM_182920.2(ADAMTS9):c.3025-214G>A	noncoding	Benign
3	64615866	G	A	G64615866A	ADAMTS9	NM_182920.2(ADAMTS9):c.3024+94C>T	noncoding	Benign
3	64615874	T	C	T64615874C	ADAMTS9	NM_182920.2(ADAMTS9):c.3024+86A>G	noncoding	Benign
3	64616330	A	G	A64616330G	ADAMTS9	NM_182920.2(ADAMTS9):c.2814-160T>C	noncoding	Benign
3	64622596	A	G	A64622596G	ADAMTS9	NM_182920.2(ADAMTS9):c.2390-10T>C	noncoding	Benign
3	64631361	G	C	G64631361C	ADAMTS9	NM_182920.2(ADAMTS9):c.2389+94C>G	noncoding	Benign
3	64631366	G	C	G64631366C	ADAMTS9	NM_182920.2(ADAMTS9):c.2389+89C>G	noncoding	Benign
3	64631394	C	T	C64631394T	ADAMTS9	NM_182920.2(ADAMTS9):c.2389+61G>A	noncoding	Benign
3	64631695	T	C	T64631695C	ADAMTS9	NM_182920.2(ADAMTS9):c.2293+113A>G	noncoding	Benign
3	64631747	G	C	G64631747C	ADAMTS9	NM_182920.2(ADAMTS9):c.2293+61C>G	noncoding	Benign
3	64632014	A	G	A64632014G	ADAMTS9	NM_182920.2(ADAMTS9):c.2176-89T>C	noncoding	Benign
3	64632023	A	G	A64632023G	ADAMTS9	NM_182920.2(ADAMTS9):c.2176-98T>C	noncoding	Benign
3	64633372	C	T	C64633372T	ADAMTS9	NM_182920.2(ADAMTS9):c.2175+100G>A	noncoding	Benign
3	64641641	T	A	T64641641A	ADAMTS9	NM_182920.2(ADAMTS9):c.1856+207A>T	noncoding	Benign
3	64641772	C	T	C64641772T	ADAMTS9	NM_182920.2(ADAMTS9):c.1856+76G>A	noncoding	Benign
3	64642076	C	T	C64642076T	ADAMTS9	NM_182920.2(ADAMTS9):c.1711-83G>A	noncoding	Benign
3	64642141	G	A	G64642141A	ADAMTS9	NM_182920.2(ADAMTS9):c.1711-148C>T	noncoding	Benign
3	64647828	A	T	A64647828T	ADAMTS9	NM_182920.2(ADAMTS9):c.1710+112T>A	noncoding	Benign
3	64648055	C	A	C64648055A	ADAMTS9	NM_182920.2(ADAMTS9):c.1606-11G>T	noncoding	Benign
3	64649576	T	A	T64649576A	ADAMTS9	NM_182920.2(ADAMTS9):c.1605+61A>T	noncoding	Benign
3	64649794	G	A	G64649794A	ADAMTS9	NM_182920.2(ADAMTS9):c.1464-16C>T	noncoding	Benign
3	64654525	T	C	T64654525C	ADAMTS9	NM_182920.2(ADAMTS9):c.1210+47A>G	noncoding	Benign
3	64654536	G	T	G64654536T	ADAMTS9	NM_182920.2(ADAMTS9):c.1210+36C>A	noncoding	Benign
3	64654553	A	G	A64654553G	ADAMTS9	NM_182920.2(ADAMTS9):c.1210+19T>C	noncoding	Benign
3	64654556	C	T	C64654556T	ADAMTS9	NM_182920.2(ADAMTS9):c.1210+16G>A	noncoding	Benign
3	64655474	C	G	C64655474G	ADAMTS9	NM_182920.2(ADAMTS9):c.1169+102G>C	noncoding	Benign
3	64655702	A	G	A64655702G	ADAMTS9	NM_182920.2(ADAMTS9):c.1054-11T>C	noncoding	Benign
3	64656022	C	T	C64656022T	ADAMTS9	NM_182920.2(ADAMTS9):c.970-147G>A	noncoding	Benign
3	64658679	C	T	C64658679T	ADAMTS9	NM_182920.2(ADAMTS9):c.792G>A:p.Glu264=	coding	Benign
3	64658942	G	A	G64658942A	ADAMTS9	NM_182920.2(ADAMTS9):c.680-151C>T	noncoding	Benign
3	64681383	G	T	G64681383T	ADAMTS9	NM_182920.2(ADAMTS9):c.517-20C>A	noncoding	Benign
3	64686798	A	T	A64686798T	ADAMTS9	NM_182920.2(ADAMTS9):c.286T>A:p.Ser96Thr	coding	Benign
3	64687048	G	C	G64687048C	ADAMTS9	NM_182920.2(ADAMTS9):c.116-80C>G	noncoding	Benign
3	66220872	C	A	C66220872A	SLC25A26	NM_173471.4(SLC25A26):c.-223C>A	noncoding	Benign
3	66261744	T	C	T66261744C	SLC25A26	NM_001379210.1(SLC25A26):c.301-307T>C	noncoding	Benign
3	66263176	C	A	C66263176A	SLC25A26	NM_001379210.1(SLC25A26):c.406-156C>A	noncoding	Benign
3	66369186	T	C	T66369186C	SLC25A26	NM_001379210.1(SLC25A26):c.569-292T>C	noncoding	Benign
3	66369831	A	T	A66369831T	SLC25A26	NM_001379210.1(SLC25A26):c.633+289A>T	noncoding	Benign
3	66370438	C	T	C66370438T	SLC25A26	NM_001379210.1(SLC25A26):c.634-91C>T	noncoding	Benign
3	66377810	C	A	C66377810A	SLC25A26	NM_001379210.1(SLC25A26):c.*3C>A	noncoding	Benign
3	66377858	C	T	C66377858T	SLC25A26	NM_001379210.1(SLC25A26):c.*51C>T	noncoding	Benign
3	66378026	G	A	G66378026A	SLC25A26	NM_001379210.1(SLC25A26):c.*219G>A	noncoding	Benign
3	66386122	C	T	C66386122T	LRIG1	NM_015541.3(LRIG1):c.1648G>A:p.Ala550Thr	coding	Benign
3	67518234	A	G	A67518234G	SUCLG2	NM_003848.4(SUCLG2):c.660+13T>C	noncoding	Benign
3	67528240	C	T	C67528240T	SUCLG2	NM_003848.4(SUCLG2):c.327-18G>A	noncoding	Benign
3	68977435	T	C	T68977435C	EOGT	NM_001278689.2(EOGT):c.*183A>G	noncoding	Benign
3	68979947	C	A	C68979947A	EOGT	NM_001278689.2(EOGT):c.1215-160G>T	noncoding	Benign
3	68980097	T	C	T68980097C	EOGT	NM_001278689.2(EOGT):c.1215-310A>G	noncoding	Benign
3	68983044	G	A	G68983044A	EOGT	NM_001278689.2(EOGT):c.1153-172C>T	noncoding	Benign
3	68987527	G	C	G68987527C	EOGT	NM_001278689.2(EOGT):c.1084-14C>G	noncoding	Benign
3	68987532	G	A	G68987532A	EOGT	NM_001278689.2(EOGT):c.1084-19C>T	noncoding	Benign
3	68987556	G	A	G68987556A	EOGT	NM_001278689.2(EOGT):c.1084-43C>T	noncoding	Benign
3	68987631	G	T	G68987631T	EOGT	NM_001278689.2(EOGT):c.1084-118C>A	noncoding	Benign
3	68987807	C	T	C68987807T	EOGT	NM_001278689.2(EOGT):c.1084-294G>A	noncoding	Benign
3	68987817	G	C	G68987817C	EOGT	NM_001278689.2(EOGT):c.1084-304C>G	noncoding	Benign
3	68988411	A	G	A68988411G	EOGT	NM_001278689.2(EOGT):c.997-30T>C	noncoding	Benign
3	68988482	G	C	G68988482C	EOGT	NM_001278689.2(EOGT):c.996+24C>G	noncoding	Benign
3	68988937	A	G	A68988937G	EOGT	NM_001278689.2(EOGT):c.912T>C:p.Tyr304=	coding	Benign
3	68989009	G	A	G68989009A	EOGT	NM_001278689.2(EOGT):c.840C>T:p.Tyr280=	coding	Benign
3	68989066	A	G	A68989066G	EOGT	NM_001278689.2(EOGT):c.832-49T>C	noncoding	Benign
3	68997990	G	A	G68997990A	EOGT	NM_001278689.2(EOGT):c.831+21C>T	noncoding	Benign
3	68998461	C	T	C68998461T	EOGT	NM_001278689.2(EOGT):c.728-347G>A	noncoding	Benign
3	69004293	T	C	T69004293C	EOGT	NM_001278689.2(EOGT):c.620+85A>G	noncoding	Benign
3	69004296	A	T	A69004296T	EOGT	NM_001278689.2(EOGT):c.620+82T>A	noncoding	Benign
3	69004361	C	T	C69004361T	EOGT	NM_001278689.2(EOGT):c.620+17G>A	noncoding	Benign/Likely_benign
3	69005460	A	G	A69005460G	EOGT	NM_001278689.2(EOGT):c.421-226T>C	noncoding	Benign
3	69009872	A	C	A69009872C	EOGT	NM_001278689.2(EOGT):c.-14-12T>G	noncoding	Benign
3	69009936	A	C	A69009936C	EOGT	NM_001278689.2(EOGT):c.-14-76T>G	noncoding	Benign
3	69010165	G	T	G69010165T	EOGT	NM_001278689.2(EOGT):c.-14-305C>A	noncoding	Benign
3	69108814	G	T	G69108814T	LMOD3	NM_198271.5(LMOD3):c.*281C>A	noncoding	Benign
3	69108943	T	G	T69108943G	LMOD3	NM_198271.5(LMOD3):c.*152A>C	noncoding	Benign
3	69108999	G	A	G69108999A	LMOD3	NM_198271.5(LMOD3):c.*96C>T	noncoding	Benign
3	69109080	T	C	T69109080C	LMOD3	NM_198271.5(LMOD3):c.*15A>G	noncoding	Benign
3	69109135	A	G	A69109135G	LMOD3	NM_198271.5(LMOD3):c.1657-14T>C	noncoding	Benign
3	69109147	G	C	G69109147C	LMOD3	NM_198271.5(LMOD3):c.1657-26C>G	noncoding	Benign
3	69118707	G	A	G69118707A	LMOD3	NM_198271.5(LMOD3):c.1648C>T:p.Leu550Phe	coding	Pathogenic
3	69119013	G	A	G69119013A	LMOD3	NM_198271.5(LMOD3):c.1342C>T:p.Gln448Ter	coding	Pathogenic
3	69119136	G	A	G69119136A	LMOD3	NM_198271.5(LMOD3):c.1219C>T:p.Gln407Ter	coding	Pathogenic
3	69119351	T	C	T69119351C	LMOD3	NM_198271.5(LMOD3):c.1004A>G:p.Gln335Arg	coding	Pathogenic
3	69119651	G	C	G69119651C	LMOD3	NM_198271.5(LMOD3):c.704C>G:p.Ser235Ter	coding	Pathogenic
3	69120315	A	C	A69120315C	LMOD3	NM_198271.5(LMOD3):c.295-255T>G	noncoding	Benign
3	69120334	T	C	T69120334C	LMOD3	NM_198271.5(LMOD3):c.295-274A>G	noncoding	Benign
3	69122652	T	C	T69122652C	LMOD3	Single_allele	noncoding	Benign
3	69739170	A	G	A69739170G	MITF	Single_allele	noncoding	Benign
3	69763752	C	T	C69763752T	MITF	NM_001354604.2(MITF):c.104+24051C>T	noncoding	Benign
3	69879680	A	G	A69879680G	MITF	NM_001354604.2(MITF):c.354+297A>G	noncoding	Benign
3	69879710	T	C	T69879710C	MITF	NM_001354604.2(MITF):c.354+327T>C	noncoding	Benign
3	69941127	A	G	A69941127G	MITF	NM_001354604.2(MITF):c.667-109A>G	noncoding	Benign
3	69949429	T	A	T69949429A	MITF	NM_001354604.2(MITF):c.880+261T>A	noncoding	Benign
3	69951887	G	C	G69951887C	MITF	NM_001354604.2(MITF):c.955+1G>C	coding	Pathogenic
3	69959334	C	T	C69959334T	MITF	NM_001354604.2(MITF):c.1093C>T:p.Gln365Ter	coding	Pathogenic
3	69959337	C	T	C69959337T	MITF	NM_001354604.2(MITF):c.1096C>T:p.Arg366Ter	coding	Pathogenic
3	69964593	C	T	C69964593T	MITF	NM_001354604.2(MITF):c.1180-254C>T	noncoding	Benign
3	69964659	G	A	G69964659A	MITF	NM_001354604.2(MITF):c.1180-188G>A	noncoding	Benign
3	69964865	C	T	C69964865T	MITF	NM_001354604.2(MITF):c.1198C>T:p.Arg400Ter	coding	Pathogenic
3	69964940	G	T	G69964940T	MITF	NM_001354604.2(MITF):c.1273G>T:p.Glu425Ter	coding	Pathogenic
3	70955834	A	G	A70955834G	FOXP1	NM_001349338.3(FOXP1):c.*3413T>C	noncoding	Benign
3	70959406	C	A	C70959406A	FOXP1	NM_001349338.3(FOXP1):c.1890-15G>T	noncoding	Benign
3	70965685	T	C	T70965685C	FOXP1	NM_001349338.3(FOXP1):c.1889+205A>G	noncoding	Benign
3	70965741	T	C	T70965741C	FOXP1	NM_001349338.3(FOXP1):c.1889+149A>G	noncoding	Benign
3	70966001	G	T	G70966001T	FOXP1	NM_001349338.3(FOXP1):c.1778C>A:p.Pro593His	coding	Pathogenic
3	70966017	C	T	C70966017T	FOXP1	NM_001349338.3(FOXP1):c.1762G>A:p.Ala588Thr	coding	Benign/Likely_benign
3	70970599	T	C	T70970599C	FOXP1	NM_001349338.3(FOXP1):c.1722+137A>G	noncoding	Benign
3	70970720	C	T	C70970720T	FOXP1	NM_001349338.3(FOXP1):c.1722+16G>A	noncoding	Benign
3	70970724	C	T	C70970724T	FOXP1	NM_001349338.3(FOXP1):c.1722+12G>A	noncoding	Benign
3	70970736	C	T	C70970736T	FOXP1	NM_001349338.3(FOXP1):c.1722G>A:p.Gln574=	coding	Pathogenic
3	70971749	T	G	T70971749G	FOXP1	NM_001349338.3(FOXP1):c.1652+806A>C	noncoding	Benign
3	70972654	C	T	C70972654T	FOXP1	NM_001349338.3(FOXP1):c.1553G>A:p.Ser518Asn	coding	Pathogenic
3	70976784	C	T	C70976784T	FOXP1	NM_001349338.3(FOXP1):c.1530+157G>A	noncoding	Benign
3	70976896	T	C	T70976896C	FOXP1	NM_001349338.3(FOXP1):c.1530+45A>G	noncoding	Benign
3	70977553	C	G	C70977553G	FOXP1	NM_001349338.3(FOXP1):c.1428+90G>C	noncoding	Benign
3	70977645	G	A	G70977645A	FOXP1	NM_001349338.3(FOXP1):c.1426C>T:p.Gln476Ter	coding	Pathogenic
3	70977675	G	T	G70977675T	FOXP1	NM_001349338.3(FOXP1):c.1396C>A:p.Pro466Thr	coding	Pathogenic
3	70977828	C	T	C70977828T	FOXP1	NM_001349338.3(FOXP1):c.1348G>A:p.Ala450Thr	coding	Pathogenic
3	70977999	T	A	T70977999A	FOXP1	NM_001349338.3(FOXP1):c.1177A>T:p.Lys393Ter	coding	Pathogenic
3	70987843	A	G	A70987843G	FOXP1	NM_001349338.3(FOXP1):c.1146+151T>C	noncoding	Benign
3	70987975	G	C	G70987975C	FOXP1	NM_001349338.3(FOXP1):c.1146+19C>G	noncoding	Benign/Likely_benign
3	70988053	G	A	G70988053A	FOXP1	NM_001349338.3(FOXP1):c.1087C>T:p.Gln363Ter	coding	Pathogenic
3	71001073	T	C	T71001073C	FOXP1	NM_001349338.3(FOXP1):c.975-14A>G	noncoding	Benign
3	71001290	C	T	C71001290T	FOXP1	NM_001349338.3(FOXP1):c.975-231G>A	noncoding	Benign
3	71015280	T	A	T71015280A	FOXP1	NM_001349338.3(FOXP1):c.974+269A>T	noncoding	Benign
3	71015416	C	T	C71015416T	FOXP1	NM_001349338.3(FOXP1):c.974+133G>A	noncoding	Benign
3	71015651	A	G	A71015651G	FOXP1	NM_001349338.3(FOXP1):c.872T>C:p.Leu291Ser	coding	Benign
3	71046678	G	A	G71046678A	FOXP1	NM_001349338.3(FOXP1):c.664+264C>T	noncoding	Benign
3	71052539	C	A	C71052539A	FOXP1	NM_001349338.3(FOXP1):c.508G>T:p.Glu170Ter	coding	Pathogenic
3	71053393	T	C	T71053393C	FOXP1	NM_001349338.3(FOXP1):c.420+243A>G	noncoding	Benign
3	71053985	T	C	T71053985C	FOXP1	NM_001349338.3(FOXP1):c.283-212A>G	noncoding	Benign
3	71112604	G	A	G71112604A	FOXP1	NM_001349338.3(FOXP1):c.214C>T:p.Gln72Ter	coding	Pathogenic
3	71112650	A	C	A71112650C	FOXP1	NM_001349338.3(FOXP1):c.181-13T>G	noncoding	Benign/Likely_benign
3	71112687	G	A	G71112687A	FOXP1	NM_001349338.3(FOXP1):c.181-50C>T	noncoding	Benign
3	71112850	G	A	G71112850A	FOXP1	NM_001349338.3(FOXP1):c.181-213C>T	noncoding	Benign
3	71112958	G	C	G71112958C	FOXP1	NM_001349338.3(FOXP1):c.181-321C>G	noncoding	Benign
3	71130691	T	C	T71130691C	FOXP1	NM_001349338.3(FOXP1):c.181-18054A>G	coding	Benign
3	71197665	T	A	T71197665A	FOXP1	NM_001349338.3(FOXP1):c.180+537A>T	noncoding	Benign
3	71197767	C	T	C71197767T	FOXP1	NM_001349338.3(FOXP1):c.180+435G>A	noncoding	Benign
3	71198106	A	G	A71198106G	FOXP1	NM_001349338.3(FOXP1):c.180+96T>C	noncoding	Benign
3	71198153	A	G	A71198153G	FOXP1	NM_001349338.3(FOXP1):c.180+49T>C	noncoding	Benign
3	71198421	A	T	A71198421T	FOXP1	NM_001349338.3(FOXP1):c.-11-29T>A	noncoding	Benign
3	71198425	A	T	A71198425T	FOXP1	NM_001349338.3(FOXP1):c.-11-33T>A	noncoding	Benign
3	71198444	G	A	G71198444A	FOXP1	NM_001349338.3(FOXP1):c.-11-52C>T	noncoding	Benign
3	71198456	G	A	G71198456A	FOXP1	NM_001349338.3(FOXP1):c.-11-64C>T	noncoding	Benign
3	71359168	C	T	C71359168T	FOXP1	NM_001349338.3(FOXP1):c.-91G>A	noncoding	Benign
3	71772722	G	A	G71772722A	PROK2	NM_001126128.2(PROK2):c.*2C>T	noncoding	Benign
3	71774431	C	T	C71774431T	PROK2	NM_001126128.2(PROK2):c.285+14G>A	noncoding	Benign
3	71774712	G	T	G71774712T	PROK2	NM_001126128.2(PROK2):c.223-205C>A	noncoding	Benign
3	71785378	C	G	C71785378G	PROK2	Single_allele	noncoding	Benign
3	72817238	C	T	C72817238T	SHQ1	NM_018130.3(SHQ1):c.874G>A:p.Glu292Lys	coding	Pathogenic
3	72832445	C	A	C72832445A	SHQ1	NM_018130.3(SHQ1):c.523G>T:p.Asp175Tyr	coding	Pathogenic
3	77039944	C	G	C77039944G	ROBO2	NM_001128929.3(ROBO2):c.110-58070C>G	noncoding	Benign
3	77040961	C	T	C77040961T	ROBO2	NM_001395656.1(ROBO2):c.61+115C>T	noncoding	Benign
3	77097797	A	T	A77097797T	ROBO2	NM_001395656.1(ROBO2):c.62-217A>T	noncoding	Benign
3	77097856	G	A	G77097856A	ROBO2	NM_001395656.1(ROBO2):c.62-158G>A	noncoding	Benign
3	77097888	C	A	C77097888A	ROBO2	NM_001395656.1(ROBO2):c.62-126C>A	noncoding	Benign
3	77097961	G	A	G77097961A	ROBO2	NM_001395656.1(ROBO2):c.62-53G>A	noncoding	Benign
3	77098156	G	A	G77098156A	ROBO2	NM_001395656.1(ROBO2):c.204G>A:p.Gly68=	coding	Benign
3	77481486	T	C	T77481486C	ROBO2	NM_001395656.1(ROBO2):c.667+267T>C	noncoding	Benign
3	77522488	A	C	A77522488C	ROBO2	NM_001395656.1(ROBO2):c.807-287A>C	noncoding	Benign
3	77522527	G	A	G77522527A	ROBO2	NM_001395656.1(ROBO2):c.807-248G>A	noncoding	Benign
3	77546684	A	G	A77546684G	ROBO2	NM_001395656.1(ROBO2):c.1071+222A>G	noncoding	Benign
3	77546729	A	G	A77546729G	ROBO2	NM_001395656.1(ROBO2):c.1071+267A>G	noncoding	Benign
3	77550612	C	T	C77550612T	ROBO2	NM_001395656.1(ROBO2):c.1072-206C>T	noncoding	Benign
3	77551122	C	A	C77551122A	ROBO2	NM_001395656.1(ROBO2):c.1243+133C>A	noncoding	Benign
3	77551175	C	T	C77551175T	ROBO2	NM_001395656.1(ROBO2):c.1243+186C>T	noncoding	Benign
3	77551294	T	A	T77551294A	ROBO2	NM_001395656.1(ROBO2):c.1243+305T>A	noncoding	Benign
3	77558413	G	T	G77558413T	ROBO2	NM_001395656.1(ROBO2):c.1449+264G>T	noncoding	Benign
3	77558418	C	T	C77558418T	ROBO2	NM_001395656.1(ROBO2):c.1449+269C>T	noncoding	Benign
3	77562401	G	A	G77562401A	ROBO2	NM_001395656.1(ROBO2):c.1450-250G>A	noncoding	Benign
3	77562972	A	G	A77562972G	ROBO2	NM_001395656.1(ROBO2):c.1532-195A>G	noncoding	Benign
3	77564937	T	G	T77564937G	ROBO2	NM_001395656.1(ROBO2):c.1695-17T>G	noncoding	Benign
3	77568068	C	G	C77568068G	ROBO2	NM_001395656.1(ROBO2):c.1862-245C>G	noncoding	Benign
3	77580425	A	C	A77580425C	ROBO2	NM_001395656.1(ROBO2):c.2512+307A>C	noncoding	Benign
3	77588516	A	G	A77588516G	ROBO2	NM_001395656.1(ROBO2):c.2513-235A>G	noncoding	Benign
3	77594888	A	G	A77594888G	ROBO2	NM_001395656.1(ROBO2):c.2696-254A>G	noncoding	Benign
3	77595049	C	T	C77595049T	ROBO2	NM_001395656.1(ROBO2):c.2696-93C>T	noncoding	Benign
3	77596626	T	C	T77596626C	ROBO2	NM_001395656.1(ROBO2):c.2742T>C:p.Arg914=	coding	Benign
3	77596798	T	C	T77596798C	ROBO2	NM_001395656.1(ROBO2):c.2866+48T>C	noncoding	Benign
3	77596833	A	G	A77596833G	ROBO2	NM_001395656.1(ROBO2):c.2866+83A>G	noncoding	Benign
3	77596856	C	T	C77596856T	ROBO2	NM_001395656.1(ROBO2):c.2866+106C>T	noncoding	Benign
3	77602413	T	C	T77602413C	ROBO2	NM_001395656.1(ROBO2):c.3070T>C:p.Trp1024Arg	coding	Benign
3	77602544	A	G	A77602544G	ROBO2	NM_001395656.1(ROBO2):c.3148+53A>G	noncoding	Benign
3	77602673	A	G	A77602673G	ROBO2	NM_001395656.1(ROBO2):c.3148+182A>G	noncoding	Benign
3	77617893	G	A	G77617893A	ROBO2	NM_001395656.1(ROBO2):c.3566+120G>A	noncoding	Benign
3	77622544	C	T	C77622544T	ROBO2	NM_001395656.1(ROBO2):c.3772+112C>T	noncoding	Benign
3	77622570	C	A	C77622570A	ROBO2	NM_001395656.1(ROBO2):c.3772+138C>A	noncoding	Benign
3	77635071	C	T	C77635071T	ROBO2	NM_001395656.1(ROBO2):c.3946+28C>T	noncoding	Benign
3	77645053	A	G	A77645053G	ROBO2	NM_001395656.1(ROBO2):c.4420+149A>G	noncoding	Benign
3	77645186	A	T	A77645186T	ROBO2	NM_001395656.1(ROBO2):c.4420+282A>T	noncoding	Benign
3	77645883	C	T	C77645883T	ROBO2	NM_001395656.1(ROBO2):c.4421-171C>T	noncoding	Benign
3	78606773	T	G	T78606773G	ROBO1	NM_002941.4(ROBO1):c.4704A>C:p.Ala1568=	coding	Benign
3	78614799	G	A	G78614799A	ROBO1	NM_002941.4(ROBO1):c.4284C>T:p.Gly1428=	coding	Benign
3	78614806	G	A	G78614806A	ROBO1	NM_002941.4(ROBO1):c.4283-6C>T	noncoding	Benign
3	78617615	T	C	T78617615C	ROBO1	NM_002941.4(ROBO1):c.4282+20A>G	noncoding	Benign
3	78617761	C	A	C78617761A	ROBO1	NM_002941.4(ROBO1):c.4156G>T:p.Gly1386Ter	coding	Pathogenic
3	78627317	A	G	A78627317G	ROBO1	NM_002941.4(ROBO1):c.3875+4T>C	noncoding	Benign
3	78627385	G	A	G78627385A	ROBO1	NM_002941.4(ROBO1):c.3811C>T:p.Leu1271Phe	coding	Benign
3	78634005	T	C	T78634005C	ROBO1	NM_002941.4(ROBO1):c.3411A>G:p.Pro1137=	coding	Benign
3	78635758	T	C	T78635758C	ROBO1	NM_002941.4(ROBO1):c.3373+15A>G	noncoding	Benign
3	78635874	C	T	C78635874T	ROBO1	NM_002941.4(ROBO1):c.3272G>A:p.Ser1091Asn	coding	Benign
3	78639808	G	A	G78639808A	ROBO1	NM_002941.4(ROBO1):c.2973C>T:p.Ser991=	coding	Benign
3	78646147	C	A	C78646147A	ROBO1	NM_002941.4(ROBO1):c.2882+1G>T	noncoding	Pathogenic
3	78646202	C	T	C78646202T	ROBO1	NM_002941.4(ROBO1):c.2840-12G>A	noncoding	Benign
3	78651751	G	T	G78651751T	ROBO1	NM_002941.4(ROBO1):c.2793C>A:p.Thr931=	coding	Benign
3	78661975	A	G	A78661975G	ROBO1	NM_002941.4(ROBO1):c.2088+18T>C	noncoding	Benign
3	78668157	T	C	T78668157C	ROBO1	NM_002941.4(ROBO1):c.1776A>G:p.Thr592=	coding	Benign
3	78668193	C	T	C78668193T	ROBO1	NM_002941.4(ROBO1):c.1740G>A:p.Ser580=	coding	Benign
3	78685745	C	T	C78685745T	ROBO1	NM_002941.4(ROBO1):c.1342+1G>A	noncoding	Pathogenic
3	78685823	T	C	T78685823C	ROBO1	NM_002941.4(ROBO1):c.1265A>G:p.Asp422Gly	coding	Pathogenic
3	78685882	G	A	G78685882A	ROBO1	NM_002941.4(ROBO1):c.1206C>T:p.Ser402=	coding	Benign
3	78717854	G	C	G78717854C	ROBO1	NM_002941.4(ROBO1):c.687C>G:p.Tyr229Ter	coding	Pathogenic
3	78891290	G	A	G78891290A	ROBO1	NM_002941.4(ROBO1):c.499+47311C>T	noncoding	Benign
3	78938586	G	A	G78938586A	ROBO1	NM_002941.4(ROBO1):c.499+15C>T	noncoding	Benign
3	81498815	A	G	A81498815G	GBE1	NM_000158.4(GBE1):c.2052+295T>C	noncoding	Benign
3	81535304	C	A	C81535304A	GBE1	NM_000158.4(GBE1):c.1825G>T:p.Glu609Ter	coding	Pathogenic
3	81537288	G	A	G81537288A	GBE1	NM_000158.4(GBE1):c.1619-193C>T	noncoding	Benign
3	81577758	C	T	C81577758T	GBE1	NM_000158.4(GBE1):c.1618+167G>A	noncoding	Benign
3	81577982	T	A	T81577982A	GBE1	NM_000158.4(GBE1):c.1561A>T:p.Lys521Ter	coding	Pathogenic/Likely_pathogenic
3	81578064	C	T	C81578064T	GBE1	NM_000158.4(GBE1):c.1479G>A:p.Trp493Ter	coding	Pathogenic
3	81581063	G	A	G81581063A	GBE1	NM_000158.4(GBE1):c.1446+102C>T	noncoding	Benign
3	81585860	G	T	G81585860T	GBE1	NM_000158.4(GBE1):c.1335+232C>A	noncoding	Benign
3	81586094	G	A	G81586094A	GBE1	NM_000158.4(GBE1):c.1333C>T:p.Gln445Ter	coding	Pathogenic
3	81593952	C	T	C81593952T	GBE1	NM_000158.4(GBE1):c.1064G>A:p.Arg355His	coding	Pathogenic/Likely_pathogenic
3	81593984	C	T	C81593984T	GBE1	NM_000158.4(GBE1):c.1032G>A:p.Trp344Ter	coding	Pathogenic
3	81593985	C	T	C81593985T	GBE1	NM_000158.4(GBE1):c.1031G>A:p.Trp344Ter	coding	Pathogenic
3	81594016	T	C	T81594016C	GBE1	NM_000158.4(GBE1):c.1000A>G:p.Ile334Val	coding	Benign
3	81594018	T	A	T81594018A	GBE1	NM_000158.4(GBE1):c.998A>T:p.Glu333Val	coding	Pathogenic/Likely_pathogenic
3	81642522	C	T	C81642522T	GBE1	NM_000158.4(GBE1):c.992+259G>A	noncoding	Benign
3	81642878	C	A	C81642878A	GBE1	NM_000158.4(GBE1):c.895G>T:p.Gly299Ter	coding	Pathogenic/Likely_pathogenic
3	81642965	G	A	G81642965A	GBE1	NM_000158.4(GBE1):c.808C>T:p.Gln270Ter	coding	Pathogenic
3	81649871	C	T	C81649871T	GBE1	NM_000158.4(GBE1):c.480G>A:p.Trp160Ter	coding	Pathogenic/Likely_pathogenic
3	81649875	G	A	G81649875A	GBE1	NM_000158.4(GBE1):c.476C>T:p.Pro159Leu	coding	Pathogenic
3	81650255	C	G	C81650255G	GBE1	NM_000158.4(GBE1):c.430-334G>C	noncoding	Benign
3	81670785	C	A	C81670785A	GBE1	NM_000158.4(GBE1):c.429+53G>T	noncoding	Benign
3	81670862	G	A	G81670862A	GBE1	NM_000158.4(GBE1):c.405C>T:p.Leu135=	coding	Benign/Likely_benign
3	81670946	C	T	C81670946T	GBE1	NM_000158.4(GBE1):c.321G>A:p.Trp107Ter	coding	Pathogenic
3	81671070	T	C	T81671070C	GBE1	NM_000158.4(GBE1):c.314-117A>G	noncoding	Benign
3	81705205	T	G	T81705205G	GBE1	NM_000158.4(GBE1):c.313+239A>C	noncoding	Benign
3	81705883	A	T	A81705883T	GBE1	NM_000158.4(GBE1):c.144-270T>A	noncoding	Benign
3	81761475	C	A	C81761475A	GBE1	NM_000158.4(GBE1):c.43G>T:p.Glu15Ter	coding	Pathogenic
3	81761476	G	C	G81761476C	GBE1	NM_000158.4(GBE1):c.42C>G:p.Tyr14Ter	coding	Pathogenic
3	81761574	C	T	C81761574T	GBE1	NM_000158.4(GBE1):c.-57G>A	noncoding	Benign
3	81761619	G	A	G81761619A	GBE1	NM_000158.4(GBE1):c.-102C>T	noncoding	Benign/Likely_benign
3	81761728	C	T	C81761728T	GBE1	Single_allele	noncoding	Benign/Likely_benign
3	81762073	A	G	A81762073G	GBE1	Single_allele	noncoding	Benign
3	87245898	C	A	C87245898A	CHMP2B	NM_014043.4(CHMP2B):c.311C>A:p.Thr104Asn	coding	Pathogenic
3	87250088	G	C	G87250088C	CHMP2B	NM_014043.4(CHMP2B):c.424+111G>C	noncoding	Benign
3	87261289	G	A	G87261289A	POU1F1	NM_000306.4(POU1F1):c.649C>T:p.Arg217Ter	coding	Pathogenic
3	87263997	A	G	A87263997G	POU1F1	NM_000306.4(POU1F1):c.439+291T>C	noncoding	Benign
3	87264203	C	T	C87264203T	POU1F1	NM_000306.4(POU1F1):c.439+85G>A	noncoding	Benign
3	87273484	A	C	A87273484C	POU1F1	NM_000306.4(POU1F1):c.143-66T>G	coding	Pathogenic
3	87273486	A	T	A87273486T	POU1F1	NM_000306.4(POU1F1):c.143-68T>A	coding	Pathogenic
3	87273487	A	C	A87273487C	POU1F1	NM_000306.4(POU1F1):c.143-69T>G	coding	Pathogenic
3	87273489	A	C	A87273489C	POU1F1	NM_000306.4(POU1F1):c.143-71T>G	coding	Pathogenic
3	87273491	A	C	A87273491C	POU1F1	NM_000306.4(POU1F1):c.143-73T>G	coding	Pathogenic
3	87276603	G	A	G87276603A	POU1F1	Single_allele	noncoding	Benign
3	93874406	C	T	C93874406T	PROS1	NM_000313.4(PROS1):c.1871-1G>A	coding	Pathogenic
3	93874668	G	A	G93874668A	PROS1	NM_000313.4(PROS1):c.1871-263C>T	noncoding	Benign
3	93876771	T	A	T93876771A	PROS1	NM_000313.4(PROS1):c.1870+195A>T	noncoding	Benign
3	93876965	C	G	C93876965G	PROS1	NM_000313.4(PROS1):c.1870+1G>C	noncoding	Pathogenic
3	93884905	T	C	T93884905C	PROS1	NM_000313.4(PROS1):c.1324-9A>G	noncoding	Pathogenic
3	93886282	A	G	A93886282G	PROS1	NM_000313.4(PROS1):c.1323+54T>C	noncoding	Benign
3	93892928	C	T	C93892928T	PROS1	NM_000313.4(PROS1):c.1155+5G>A	noncoding	Pathogenic/Likely_pathogenic
3	93893004	G	A	G93893004A	PROS1	NM_000313.4(PROS1):c.1084C>T:p.Gln362Ter	coding	Pathogenic
3	93896677	G	T	G93896677T	PROS1	NM_000313.4(PROS1):c.864C>A:p.Cys288Ter	coding	Pathogenic
3	93898477	T	A	T93898477A	PROS1	NM_000313.4(PROS1):c.820A>T:p.Lys274Ter	coding	Pathogenic
3	93898557	C	G	C93898557G	PROS1	NM_000313.4(PROS1):c.740G>C:p.Cys247Ser	coding	Pathogenic
3	93898589	C	T	C93898589T	PROS1	NM_000313.4(PROS1):c.728-20G>A	noncoding	Benign
3	93905828	C	T	C93905828T	PROS1	NM_000313.4(PROS1):c.557G>A:p.Cys186Tyr	coding	Pathogenic
3	93910940	C	T	C93910940T	PROS1	NM_000313.4(PROS1):c.260-235G>A	noncoding	Benign
3	93927081	C	T	C93927081T	PROS1	NM_000313.4(PROS1):c.234+169G>A	noncoding	Benign
3	93927123	A	T	A93927123T	PROS1	NM_000313.4(PROS1):c.234+127T>A	noncoding	Benign
3	93927303	C	A	C93927303A	PROS1	NM_000313.4(PROS1):c.181G>T:p.Glu61Ter	coding	Pathogenic
3	93927345	C	A	C93927345A	PROS1	NM_000313.4(PROS1):c.139G>T:p.Glu47Ter	coding	Pathogenic
3	93927552	C	T	C93927552T	PROS1	NM_000313.4(PROS1):c.77-145G>A	noncoding	Benign
3	93969667	G	A	G93969667A	PROS1	NM_000313.4(PROS1):c.76+4007C>T	noncoding	Benign
3	93973747	C	G	C93973747G	PROS1	NM_000313.4(PROS1):c.3G>C:p.Met1Ile	coding	Pathogenic
3	93973788	G	A	G93973788A	PROS1	NM_000313.4(PROS1):c.-39C>T	noncoding	Pathogenic
3	93980190	G	T	G93980190T	ARL13B	NM_001174150.2(ARL13B):c.-234G>T	noncoding	Benign
3	94036619	G	A	G94036619A	ARL13B	NM_001174150.2(ARL13B):c.554G>A:p.Trp185Ter	coding	Pathogenic
3	94036633	A	G	A94036633G	ARL13B	NM_001174150.2(ARL13B):c.568A>G:p.Ile190Val	coding	Benign
3	94036664	G	A	G94036664A	ARL13B	NM_001174150.2(ARL13B):c.599G>A:p.Arg200His	coding	Pathogenic/Likely_pathogenic
3	94036773	T	C	T94036773C	ARL13B	NM_001174150.2(ARL13B):c.689+19T>C	noncoding	Benign
3	94039962	C	T	C94039962T	ARL13B	NM_001174150.2(ARL13B):c.772C>T:p.Gln258Ter	coding	Pathogenic
3	94049413	T	C	T94049413C	ARL13B	NM_001174150.2(ARL13B):c.1032T>C:p.Gly344=	coding	Benign/Likely_benign
3	94053228	C	T	C94053228T	ARL13B	NM_001174150.2(ARL13B):c.1252C>T:p.Arg418Ter	coding	Pathogenic/Likely_pathogenic
3	94064523	C	T	C94064523T	NSUN3	NM_022072.5(NSUN3):c.99C>T:p.Leu33=	coding	Benign
3	94064565	G	T	G94064565T	NSUN3	NM_022072.5(NSUN3):c.122+19G>T	noncoding	Benign
3	94126218	A	G	A94126218G	NSUN3	NM_022072.5(NSUN3):c.751A>G:p.Ile251Val	coding	Benign
3	97592639	C	T	C97592639T	EPHA6	NM_001080448.3(EPHA6):c.2414C>T:p.Ala805Val	coding	Benign
3	97768108	A	G	A97768108G	ARL6	NM_001278293.3(ARL6):c.1A>G:p.Met1Val	coding	Pathogenic
3	97768111	G	T	G97768111T	ARL6	NM_001278293.3(ARL6):c.4G>T:p.Gly2Ter	coding	Pathogenic
3	97768395	C	T	C97768395T	ARL6	NM_001278293.3(ARL6):c.123+165C>T	noncoding	Benign
3	97780657	C	G	C97780657G	ARL6	NM_001278293.3(ARL6):c.228C>G:p.Tyr76Ter	coding	Pathogenic
3	97780810	T	A	T97780810A	ARL6	NM_001278293.3(ARL6):c.254+127T>A	noncoding	Benign
3	97780885	T	C	T97780885C	ARL6	NM_001278293.3(ARL6):c.254+202T>C	noncoding	Benign
3	97788447	C	T	C97788447T	ARL6	NM_001278293.3(ARL6):c.479+328C>T	noncoding	Benign
3	97791906	A	G	A97791906G	ARL6	NM_001278293.3(ARL6):c.535+80A>G	noncoding	Benign
3	98581407	C	T	C98581407T	CPOX	NM_000097.7(CPOX):c.1277G>A:p.Arg426Gln	coding	Pathogenic
3	98581474	T	C	T98581474C	CPOX	NM_000097.7(CPOX):c.1210A>G:p.Lys404Glu	coding	Pathogenic/Likely_pathogenic
3	98585228	C	T	C98585228T	CPOX	NM_000097.7(CPOX):c.1172+213G>A	noncoding	Benign
3	98585424	G	A	G98585424A	CPOX	NM_000097.7(CPOX):c.1172+17C>T	noncoding	Benign
3	98585550	G	A	G98585550A	CPOX	NM_000097.7(CPOX):c.1063C>T:p.Gln355Ter	coding	Pathogenic
3	98588711	A	G	A98588711G	CPOX	NM_000097.7(CPOX):c.953+2T>C	noncoding	Pathogenic
3	98589038	G	A	G98589038A	CPOX	NM_000097.7(CPOX):c.812-184C>T	noncoding	Benign
3	98589100	G	A	G98589100A	CPOX	NM_000097.7(CPOX):c.812-246C>T	noncoding	Benign
3	98591111	C	T	C98591111T	CPOX	NM_000097.7(CPOX):c.601G>A:p.Glu201Lys	coding	Pathogenic/Likely_pathogenic
3	98591241	C	T	C98591241T	CPOX	NM_000097.7(CPOX):c.557-86G>A	noncoding	Benign
3	98591346	A	G	A98591346G	CPOX	NM_000097.7(CPOX):c.557-191T>C	noncoding	Benign
3	98593737	G	C	G98593737C	CPOX	Single_allele	noncoding	Benign
3	100279687	G	C	G100279687C	TBC1D23	NM_001199198.3(TBC1D23):c.92G>C:p.Cys31Ser	coding	Benign/Likely_benign
3	100283758	A	G	A100283758G	TBC1D23	NM_001199198.3(TBC1D23):c.423A>G:p.Pro141=	coding	Benign
3	100296302	G	T	G100296302T	TBC1D23	NM_001199198.3(TBC1D23):c.876+27G>T	noncoding	Benign
3	100296322	C	T	C100296322T	TBC1D23	NM_001199198.3(TBC1D23):c.876+47C>T	noncoding	Benign
3	100299333	T	A	T100299333A	TBC1D23	NM_001199198.3(TBC1D23):c.1092+2T>A	noncoding	Pathogenic
3	100305089	T	A	T100305089A	TBC1D23	NM_001199198.3(TBC1D23):c.1306+201T>A	noncoding	Benign
3	100310329	A	G	A100310329G	TBC1D23	NM_001199198.3(TBC1D23):c.1414-74A>G	noncoding	Benign
3	100316005	A	T	A100316005T	TBC1D23	NM_001199198.3(TBC1D23):c.1599-94A>T	noncoding	Benign
3	100318951	G	C	G100318951C	TBC1D23	NM_001199198.3(TBC1D23):c.1688-118G>C	noncoding	Benign
3	100319384	T	C	T100319384C	TBC1D23	NM_001199198.3(TBC1D23):c.1823+180T>C	noncoding	Benign
3	100709217	T	C	T100709217C	TFG	Single_allele	noncoding	Benign
3	100709274	G	A	G100709274A	TFG	Single_allele	noncoding	Benign
3	100709512	A	G	A100709512G	TFG	NM_006070.6(TFG):c.-253A>G	noncoding	Benign
3	100709800	T	C	T100709800C	TFG	NM_006070.6(TFG):c.-44+79T>C	noncoding	Benign
3	100713749	C	T	C100713749T	TFG	NM_006070.6(TFG):c.64C>T:p.Arg22Trp	coding	Pathogenic
3	100713880	T	C	T100713880C	TFG	NM_006070.6(TFG):c.184+11T>C	noncoding	Benign
3	100713908	A	T	A100713908T	TFG	NM_006070.6(TFG):c.184+39A>T	noncoding	Benign
3	100713909	A	T	A100713909T	TFG	NM_006070.6(TFG):c.184+40A>T	noncoding	Benign
3	100713923	A	G	A100713923G	TFG	NM_006070.6(TFG):c.184+54A>G	noncoding	Benign
3	100719940	A	G	A100719940G	TFG	NM_006070.6(TFG):c.185-35A>G	noncoding	Benign
3	100720347	A	G	A100720347G	TFG	NM_006070.6(TFG):c.268+289A>G	noncoding	Benign
3	100732327	T	A	T100732327A	TFG	NM_006070.6(TFG):c.416-181T>A	noncoding	Benign
3	100732722	G	A	G100732722A	TFG	NM_006070.6(TFG):c.580+50G>A	noncoding	Benign
3	100736958	C	T	C100736958T	TFG	NM_006070.6(TFG):c.721+242C>T	noncoding	Benign
3	100744807	T	G	T100744807G	TFG	NM_006070.6(TFG):c.722-26T>G	noncoding	Benign
3	100747864	A	G	A100747864G	TFG	NM_006070.6(TFG):c.821-285A>G	noncoding	Benign
3	100748569	A	G	A100748569G	TFG	NM_006070.6(TFG):c.*38A>G	noncoding	Benign
3	100748829	G	A	G100748829A	TFG	NM_006070.6(TFG):c.*298G>A	noncoding	Benign
3	100748832	A	T	A100748832T	TFG	NM_006070.6(TFG):c.*301A>T	noncoding	Benign
3	101232845	G	A	G101232845A	IMPG2	NM_016247.4(IMPG2):c.3169C>T:p.Gln1057Ter	coding	Pathogenic
3	101243765	G	A	G101243765A	IMPG2	NM_016247.4(IMPG2):c.2566C>T:p.Gln856Ter	coding	Pathogenic
3	101244742	G	T	G101244742T	IMPG2	NM_016247.4(IMPG2):c.1589C>A:p.Ser530Ter	coding	Pathogenic/Likely_pathogenic
3	101244807	T	G	T101244807G	IMPG2	NM_016247.4(IMPG2):c.1544-20A>C	noncoding	Benign
3	101245995	C	T	C101245995T	IMPG2	NM_016247.4(IMPG2):c.1350G>A:p.Trp450Ter	coding	Pathogenic
3	101253708	C	T	C101253708T	IMPG2	NM_016247.4(IMPG2):c.1227G>A:p.Pro409=	coding	Benign
3	101273564	T	G	T101273564G	IMPG2	NM_016247.4(IMPG2):c.828+17A>C	noncoding	Benign
3	101273733	C	A	C101273733A	IMPG2	NM_016247.4(IMPG2):c.676G>T:p.Glu226Ter	coding	Pathogenic
3	101273743	C	T	C101273743T	IMPG2	NM_016247.4(IMPG2):c.667-1G>A	coding	Pathogenic/Likely_pathogenic
3	101291491	T	G	T101291491G	IMPG2	NM_016247.4(IMPG2):c.521A>C:p.Glu174Ala	coding	Benign
3	101304236	C	T	C101304236T	IMPG2	NM_016247.4(IMPG2):c.411G>A:p.Trp137Ter	coding	Pathogenic/Likely_pathogenic
3	101304250	C	A	C101304250A	IMPG2	NM_016247.4(IMPG2):c.397G>T:p.Glu133Ter	coding	Pathogenic
3	101319694	C	T	C101319694T	IMPG2	NM_016247.4(IMPG2):c.224G>A:p.Trp75Ter	coding	Pathogenic
3	101319795	G	C	G101319795C	IMPG2	NM_016247.4(IMPG2):c.123C>G:p.Pro41=	coding	Benign
3	101320263	A	C	A101320263C	IMPG2	NM_016247.4(IMPG2):c.85+25T>G	noncoding	Benign
3	101566096	T	C	T101566096C	TRMT10C	NM_017819.4(TRMT10C):c.*103T>C	noncoding	Benign
3	101651549	G	A	G101651549A	ZBTB11	NM_014415.4(ZBTB11):c.2779C>T:p.Arg927Ter	coding	Pathogenic
3	101651594	G	A	G101651594A	ZBTB11	NM_014415.4(ZBTB11):c.2734C>T:p.Arg912Trp	coding	Pathogenic
3	101651660	T	C	T101651660C	ZBTB11	NM_014415.4(ZBTB11):c.2668A>G:p.Thr890Ala	coding	Pathogenic
3	101664718	G	A	G101664718A	ZBTB11	NM_014415.4(ZBTB11):c.1624-4C>T	noncoding	Benign
3	101665680	T	A	T101665680A	ZBTB11	NM_014415.4(ZBTB11):c.907A>T:p.Ile303Phe	coding	Pathogenic
3	101676761	G	A	G101676761A	ZBTB11	NM_014415.4(ZBTB11):c.154C>T:p.Arg52Trp	coding	Pathogenic
3	101727506	C	T	C101727506T	CEP97	NM_024548.4(CEP97):c.310C>T:p.Leu104=	coding	Benign
3	101755541	A	T	A101755541T	CEP97	NM_024548.4(CEP97):c.840A>T:p.Leu280=	coding	Benign
3	101757124	G	C	G101757124C	CEP97	NM_024548.4(CEP97):c.955G>C:p.Val319Leu	coding	Benign
3	101757888	T	G	T101757888G	CEP97	NM_024548.4(CEP97):c.1282T>G:p.Leu428Val	coding	Benign
3	101757914	A	G	A101757914G	CEP97	NM_024548.4(CEP97):c.1308A>G:p.Ala436=	coding	Benign
3	101758006	T	A	T101758006A	CEP97	NM_024548.4(CEP97):c.1400T>A:p.Met467Lys	coding	Benign
3	101765491	G	A	G101765491A	CEP97	NM_024548.4(CEP97):c.2538G>A:p.Gln846=	coding	Benign
3	105541676	C	T	C105541676T	ALCAM	NM_001627.4(ALCAM):c.902C>T:p.Thr301Met	coding	Benign
3	108163651	G	A	G108163651A	IFT57	NM_018010.4(IFT57):c.1111+12C>T	noncoding	Benign
3	108165422	A	G	A108165422G	IFT57	NM_018010.4(IFT57):c.1044+9T>C	noncoding	Benign
3	108165424	T	C	T108165424C	IFT57	NM_018010.4(IFT57):c.1044+7A>G	noncoding	Benign
3	108167774	C	T	C108167774T	IFT57	NM_018010.4(IFT57):c.849+19G>A	noncoding	Benign
3	108206616	G	A	G108206616A	IFT57	NM_018010.4(IFT57):c.654+12C>T	noncoding	Benign
3	108218554	T	C	T108218554C	IFT57	NM_018010.4(IFT57):c.475A>G:p.Ile159Val	coding	Benign
3	108218561	C	T	C108218561T	IFT57	NM_018010.4(IFT57):c.468G>A:p.Leu156=	coding	Benign
3	108219393	G	C	G108219393C	IFT57	NM_018010.4(IFT57):c.375+17C>G	noncoding	Benign
3	108222316	C	T	C108222316T	IFT57	NM_018010.4(IFT57):c.7G>A:p.Ala3Thr	coding	Benign
3	108518915	A	G	A108518915G	MYH15	Single_allele	noncoding	Benign
3	108519798	G	T	G108519798T	MYH15	Single_allele	noncoding	Benign
3	108529575	T	A	T108529575A	MYH15	Single_allele	noncoding	Benign
3	111072032	G	A	G111072032A	NECTIN3	NM_015480.3(NECTIN3):c.15G>A:p.Leu5=	coding	Benign
3	111072266	A	G	A111072266G	NECTIN3	NM_015480.3(NECTIN3):c.160+89A>G	coding	Benign
3	111125929	C	T	C111125929T	NECTIN3	NM_015480.3(NECTIN3):c.918-255C>T	noncoding	Benign
3	111145008	A	C	A111145008C	NECTIN3	NM_001243288.2(NECTIN3):c.1110A>C:p.Arg370_Lys371=	coding	Benign
3	111145130	G	A	G111145130A	NECTIN3	NM_001243288.2(NECTIN3):c.1139+93G>A	noncoding	Benign
3	111147590	G	A	G111147590A	NECTIN3	NM_001243288.2(NECTIN3):c.1221+106G>A	noncoding	Benign
3	111192990	A	T	A111192990T	NECTIN3	NM_001243288.2(NECTIN3):c.1285-210A>T	noncoding	Benign
3	111193129	G	A	G111193129A	NECTIN3	NM_001243288.2(NECTIN3):c.1285-71G>A	noncoding	Benign
3	111542326	T	C	T111542326C	CD96	NM_005816.5(CD96):c.61+17T>C	noncoding	Benign
3	111567528	G	C	G111567528C	CD96	NM_005816.5(CD96):c.424G>C:p.Ala142Pro	coding	Benign
3	111585392	A	C	A111585392C	CD96	NM_005816.5(CD96):c.807+14A>C	noncoding	Benign
3	111600793	A	G	A111600793G	CD96	NM_005816.5(CD96):c.966A>G:p.Thr322=	coding	Benign
3	111637236	G	C	G111637236C	CD96	NM_005816.5(CD96):c.1362G>C:p.Pro454=	coding	Benign
3	111637245	A	G	A111637245G	CD96	NM_005816.5(CD96):c.1371A>G:p.Ala457=	coding	Benign
3	112923721	C	G	C112923721G	CD200R1	NM_138806.4(CD200R1):c.1003G>C:p.Glu335Gln	coding	Benign
3	112975558	A	G	A112975558G	CD200R1	Single_allele	noncoding	Benign
3	113008337	A	T	A113008337T	NEPRO	NM_015412.4(NEPRO):c.1069T>A:p.Phe357Ile	coding	Benign
3	113019471	C	T	C113019471T	NEPRO	NM_015412.4(NEPRO):c.106+71G>A	noncoding	Benign
3	113305155	G	A	G113305155A	CFAP44	NM_001164496.2(CFAP44):c.4759-3C>T	noncoding	Benign
3	113403851	C	T	C113403851T	CFAP44	NM_001164496.2(CFAP44):c.1170+1G>A	noncoding	Pathogenic
3	113651163	G	T	G113651163T	USF3	NM_001009899.4(USF3):c.*3781C>A	noncoding	Benign
3	113778539	C	G	C113778539G	ATP6V1A	NM_001690.4(ATP6V1A):c.-13-202C>G	noncoding	Benign
3	113778660	A	G	A113778660G	ATP6V1A	NM_001690.4(ATP6V1A):c.-13-81A>G	noncoding	Benign
3	113780886	A	G	A113780886G	ATP6V1A	NM_001690.4(ATP6V1A):c.83-164A>G	noncoding	Benign
3	113784507	A	G	A113784507G	ATP6V1A	NM_001690.4(ATP6V1A):c.426+69A>G	noncoding	Benign
3	113788902	C	G	C113788902G	ATP6V1A	NM_001690.4(ATP6V1A):c.879+27C>G	noncoding	Benign
3	113789488	T	C	T113789488C	ATP6V1A	NM_001690.4(ATP6V1A):c.880-244T>C	noncoding	Benign
3	113789716	T	C	T113789716C	ATP6V1A	NM_001690.4(ATP6V1A):c.880-16T>C	noncoding	Benign
3	113794951	G	T	G113794951T	ATP6V1A	NM_001690.4(ATP6V1A):c.1068G>T:p.Glu356Asp	coding	Pathogenic
3	113794971	G	T	G113794971T	ATP6V1A	NM_001690.4(ATP6V1A):c.1088G>T:p.Gly363Val	coding	Pathogenic
3	113795666	A	G	A113795666G	ATP6V1A	NM_001690.4(ATP6V1A):c.1227-210A>G	noncoding	Benign
3	113803697	T	C	T113803697C	ATP6V1A	NM_001690.4(ATP6V1A):c.1589+20T>C	noncoding	Benign
3	113809364	C	A	C113809364A	ATP6V1A	NM_001690.4(ATP6V1A):c.1791C>A:p.Ile597=	coding	Benign
3	113809431	C	T	C113809431T	ATP6V1A	NM_001690.4(ATP6V1A):c.*4C>T	noncoding	Benign
3	114338999	T	C	T114338999C	ZBTB20	NM_001348800.3(ZBTB20):c.*6A>G	noncoding	Benign
3	114339360	T	G	T114339360G	ZBTB20	NM_001348800.3(ZBTB20):c.1871A>C:p.His624Pro	coding	Pathogenic
3	114339446	C	A	C114339446A	ZBTB20	NM_001348800.3(ZBTB20):c.1805-20G>T	noncoding	Benign
3	114339515	A	G	A114339515G	ZBTB20	NM_001348800.3(ZBTB20):c.1805-89T>C	noncoding	Benign
3	114339566	C	T	C114339566T	ZBTB20	NM_001348800.3(ZBTB20):c.1805-140G>A	noncoding	Benign
3	114350339	C	T	C114350339T	ZBTB20	NM_001348800.3(ZBTB20):c.1739G>A:p.Cys580Tyr	coding	Pathogenic
3	114380052	C	A	C114380052A	ZBTB20	NM_001348800.3(ZBTB20):c.199+165G>T	noncoding	Benign
3	119294711	G	A	G119294711A	ARHGAP31	NM_020754.4(ARHGAP31):c.-194G>A	noncoding	Benign
3	119294867	C	A	C119294867A	ARHGAP31	NM_020754.4(ARHGAP31):c.-38C>A	noncoding	Benign
3	119295081	A	T	A119295081T	ARHGAP31	NM_020754.4(ARHGAP31):c.100+77A>T	noncoding	Benign
3	119365267	G	A	G119365267A	ARHGAP31	NM_020754.4(ARHGAP31):c.101-49G>A	noncoding	Benign
3	119365279	C	A	C119365279A	ARHGAP31	NM_020754.4(ARHGAP31):c.101-37C>A	noncoding	Benign
3	119365484	A	G	A119365484G	ARHGAP31	NM_020754.4(ARHGAP31):c.203+66A>G	noncoding	Benign
3	119380751	A	G	A119380751G	ARHGAP31	NM_020754.4(ARHGAP31):c.349-153A>G	noncoding	Benign
3	119380791	C	T	C119380791T	ARHGAP31	NM_020754.4(ARHGAP31):c.349-113C>T	noncoding	Benign
3	119382055	T	G	T119382055G	ARHGAP31	NM_020754.4(ARHGAP31):c.432-237T>G	noncoding	Benign
3	119382192	T	A	T119382192A	ARHGAP31	NM_020754.4(ARHGAP31):c.432-100T>A	noncoding	Benign
3	119383078	C	T	C119383078T	ARHGAP31	NM_020754.4(ARHGAP31):c.540-6C>T	noncoding	Benign
3	119383245	A	C	A119383245C	ARHGAP31	NM_020754.4(ARHGAP31):c.682+19A>C	noncoding	Benign
3	119383403	G	A	G119383403A	ARHGAP31	NM_020754.4(ARHGAP31):c.682+177G>A	noncoding	Benign
3	119390990	G	A	G119390990A	ARHGAP31	NM_020754.4(ARHGAP31):c.881+7G>A	noncoding	Benign
3	119391159	C	T	C119391159T	ARHGAP31	NM_020754.4(ARHGAP31):c.881+176C>T	noncoding	Benign
3	119393229	C	G	C119393229G	ARHGAP31	NM_020754.4(ARHGAP31):c.882-238C>G	noncoding	Benign
3	119393712	A	G	A119393712G	ARHGAP31	NM_020754.4(ARHGAP31):c.1006+121A>G	noncoding	Benign
3	119398989	T	C	T119398989C	ARHGAP31	NM_020754.4(ARHGAP31):c.1007-210T>C	noncoding	Benign
3	119399087	G	A	G119399087A	ARHGAP31	NM_020754.4(ARHGAP31):c.1007-112G>A	noncoding	Benign
3	119401535	G	A	G119401535A	ARHGAP31	NM_020754.4(ARHGAP31):c.1070-287G>A	noncoding	Benign
3	119401730	G	C	G119401730C	ARHGAP31	NM_020754.4(ARHGAP31):c.1070-92G>C	noncoding	Benign
3	119409551	G	A	G119409551A	ARHGAP31	NM_020754.4(ARHGAP31):c.1701G>A:p.Pro567=	coding	Benign
3	119409787	T	C	T119409787C	ARHGAP31	NM_020754.4(ARHGAP31):c.1926+11T>C	noncoding	Benign
3	119409789	C	A	C119409789A	ARHGAP31	NM_020754.4(ARHGAP31):c.1926+13C>A	noncoding	Benign
3	119409863	A	T	A119409863T	ARHGAP31	NM_020754.4(ARHGAP31):c.1926+87A>T	noncoding	Benign
3	119409865	T	A	T119409865A	ARHGAP31	NM_020754.4(ARHGAP31):c.1926+89T>A	noncoding	Benign
3	119409939	T	G	T119409939G	ARHGAP31	NM_020754.4(ARHGAP31):c.1926+163T>G	noncoding	Benign
3	119413707	A	G	A119413707G	ARHGAP31	NM_020754.4(ARHGAP31):c.1927-149A>G	noncoding	Benign
3	119414109	C	T	C119414109T	ARHGAP31	NM_020754.4(ARHGAP31):c.2180C>T:p.Thr727Ile	coding	Benign
3	119414259	T	C	T119414259C	ARHGAP31	NM_020754.4(ARHGAP31):c.2330T>C:p.Leu777Pro	coding	Benign
3	119414707	G	A	G119414707A	ARHGAP31	NM_020754.4(ARHGAP31):c.2778G>A:p.Ala926=	coding	Benign
3	119414962	T	C	T119414962C	ARHGAP31	NM_020754.4(ARHGAP31):c.3033T>C:p.Ser1011=	coding	Benign
3	119415544	C	T	C119415544T	ARHGAP31	NM_020754.4(ARHGAP31):c.3615C>T:p.Pro1205=	coding	Benign
3	119416030	A	G	A119416030G	ARHGAP31	NM_020754.4(ARHGAP31):c.4101A>G:p.Thr1367=	coding	Benign
3	119416533	A	G	A119416533G	ARHGAP31	NM_020754.4(ARHGAP31):c.*269A>G	noncoding	Benign
3	119469126	G	T	G119469126T	POGLUT1	NM_152305.3(POGLUT1):c.85+20G>T	noncoding	Benign/Likely_benign
3	119469366	G	T	G119469366T	POGLUT1	NM_152305.3(POGLUT1):c.85+260G>T	noncoding	Benign
3	119469904	A	G	A119469904G	POGLUT1	NM_152305.3(POGLUT1):c.170A>G:p.Tyr57Cys	coding	Pathogenic
3	119470048	C	G	C119470048G	POGLUT1	NM_152305.3(POGLUT1):c.176+138C>G	noncoding	Benign
3	119471424	C	T	C119471424T	POGLUT1	NM_152305.3(POGLUT1):c.292C>T:p.Arg98Trp	coding	Pathogenic
3	119477066	C	T	C119477066T	POGLUT1	NM_152305.3(POGLUT1):c.321-247C>T	noncoding	Benign
3	119477319	T	C	T119477319C	POGLUT1	NM_152305.3(POGLUT1):c.327T>C:p.Ser109=	coding	Benign
3	119477348	T	C	T119477348C	POGLUT1	NM_152305.3(POGLUT1):c.356T>C:p.Ile119Thr	coding	Pathogenic
3	119477442	C	T	C119477442T	POGLUT1	NM_152305.3(POGLUT1):c.450C>T:p.Phe150=	coding	Benign
3	119477487	G	T	G119477487T	POGLUT1	NM_152305.3(POGLUT1):c.456+39G>T	noncoding	Benign
3	119477590	G	A	G119477590A	POGLUT1	NM_152305.3(POGLUT1):c.456+142G>A	noncoding	Benign
3	119480026	G	A	G119480026A	POGLUT1	NM_152305.3(POGLUT1):c.457-25G>A	coding	Benign
3	119480141	C	T	C119480141T	POGLUT1	NM_152305.3(POGLUT1):c.547C>T:p.Arg183Trp	coding	Pathogenic
3	119480180	C	T	C119480180T	POGLUT1	NM_152305.3(POGLUT1):c.578+8C>T	noncoding	Benign
3	119486694	C	T	C119486694T	POGLUT1	NM_152305.3(POGLUT1):c.639-139C>T	noncoding	Benign
3	119488693	C	T	C119488693T	POGLUT1	NM_152305.3(POGLUT1):c.739-236C>T	noncoding	Benign
3	119489144	C	T	C119489144T	POGLUT1	NM_152305.3(POGLUT1):c.797+157C>T	noncoding	Benign
3	119490567	C	T	C119490567T	POGLUT1	NM_152305.3(POGLUT1):c.814C>T:p.Arg272Ter	coding	Pathogenic
3	119490589	G	A	G119490589A	POGLUT1	NM_152305.3(POGLUT1):c.836G>A:p.Arg279Gln	coding	Pathogenic
3	119490811	A	G	A119490811G	POGLUT1	NM_152305.3(POGLUT1):c.965+93A>G	noncoding	Benign
3	119491342	G	T	G119491342T	POGLUT1	NM_152305.3(POGLUT1):c.966-176G>T	noncoding	Benign
3	119491343	G	T	G119491343T	POGLUT1	NM_152305.3(POGLUT1):c.966-175G>T	noncoding	Benign
3	119492061	T	A	T119492061A	POGLUT1	NM_152305.3(POGLUT1):c.1023-221T>A	noncoding	Benign
3	119492418	A	T	A119492418T	POGLUT1	NM_152305.3(POGLUT1):c.1159A>T:p.Met387Leu	coding	Benign
3	119492435	A	G	A119492435G	POGLUT1	NM_152305.3(POGLUT1):c.1176A>G:p.Leu392=	coding	Benign
3	119492447	A	G	A119492447G	POGLUT1	NM_152305.3(POGLUT1):c.*9A>G	noncoding	Benign
3	119492519	A	T	A119492519T	POGLUT1	NM_152305.3(POGLUT1):c.*81A>T	noncoding	Benign
3	119492537	T	G	T119492537G	POGLUT1	NM_152305.3(POGLUT1):c.*99T>G	noncoding	Benign
3	119498942	G	T	G119498942T	TIMMDC1	NM_016589.4(TIMMDC1):c.194+15G>T	noncoding	Benign
3	119500726	A	G	A119500726G	TIMMDC1	NM_016589.4(TIMMDC1):c.226A>G:p.Asn76Asp	coding	Benign
3	119500732	T	C	T119500732C	TIMMDC1	NM_016589.4(TIMMDC1):c.232T>C:p.Cys78Arg	coding	Benign
3	119503609	G	C	G119503609C	TIMMDC1	NM_016589.4(TIMMDC1):c.438G>C:p.Val146=	coding	Benign
3	119515747	C	T	C119515747T	TIMMDC1	NM_016589.4(TIMMDC1):c.597-1458C>T	noncoding	Benign
3	119517170	G	T	G119517170T	TIMMDC1	NM_016589.4(TIMMDC1):c.597-35G>T	noncoding	Benign
3	119517257	G	A	G119517257A	TIMMDC1	NM_016589.4(TIMMDC1):c.649G>A:p.Val217Ile	coding	Benign
3	119517326	T	C	T119517326C	TIMMDC1	NM_016589.4(TIMMDC1):c.707+11T>C	noncoding	Benign
3	119517332	G	A	G119517332A	TIMMDC1	NM_016589.4(TIMMDC1):c.707+17G>A	noncoding	Benign
3	119523596	C	T	C119523596T	TIMMDC1	NM_016589.4(TIMMDC1):c.708-10C>T	noncoding	Benign
3	119525008	T	A	T119525008A	CD80	NM_005191.4(CD80):c.*780A>T	noncoding	Benign
3	119525574	A	C	A119525574C	CD80	NM_005191.4(CD80):c.*214T>G	noncoding	Benign
3	119866843	T	A	T119866843A	GSK3B	NM_001146156.2(GSK3B):c.910-3238A>T	noncoding	Benign
3	119876186	C	T	C119876186T	GSK3B	NM_001146156.2(GSK3B):c.909+227G>A	noncoding	Benign
3	119876204	A	G	A119876204G	GSK3B	NM_001146156.2(GSK3B):c.909+209T>C	noncoding	Benign
3	119905634	C	T	C119905634T	GSK3B	NM_001146156.2(GSK3B):c.813+121G>A	noncoding	Benign
3	119912967	A	G	A119912967G	GSK3B	NM_001146156.2(GSK3B):c.609-157T>C	noncoding	Benign
3	119916215	T	C	T119916215C	GSK3B	NM_001146156.2(GSK3B):c.478-41A>G	noncoding	Benign
3	119947419	C	T	C119947419T	GSK3B	NM_001146156.2(GSK3B):c.283-68G>A	noncoding	Benign
3	120001977	A	G	A120001977G	GSK3B	NM_001146156.2(GSK3B):c.282+69T>C	noncoding	Benign
3	120002133	T	A	T120002133A	GSK3B	NM_001146156.2(GSK3B):c.195A>T:p.Gly65=	coding	Benign
3	120002324	T	C	T120002324C	GSK3B	NM_001146156.2(GSK3B):c.89-85A>G	noncoding	Benign
3	120094435	A	G	A120094435G	GSK3B	NM_001146156.2(GSK3B):c.-1001T>C	noncoding	Benign
3	120094598	C	T	C120094598T	GSK3B	Single_allele	noncoding	Benign
3	120094637	C	A	C120094637A	GSK3B	Single_allele	noncoding	Benign
3	120628449	G	T	G120628449T	HGD	NM_000187.4(HGD):c.1269C>A:p.Tyr423Ter	coding	Pathogenic
3	120628517	C	G	C120628517G	HGD	NM_000187.4(HGD):c.1201G>C:p.Glu401Gln	coding	Pathogenic/Likely_pathogenic
3	120633146	C	A	C120633146A	HGD	NM_000187.4(HGD):c.1188+1G>T	noncoding	Pathogenic/Likely_pathogenic
3	120633146	C	T	C120633146T	HGD	NM_000187.4(HGD):c.1188+1G>A	noncoding	Pathogenic
3	120633330	T	A	T120633330A	HGD	NM_000187.4(HGD):c.1007-2A>T	noncoding	Pathogenic
3	120638453	A	T	A120638453T	HGD	NM_000187.4(HGD):c.1006+2T>A	noncoding	Pathogenic
3	120641571	T	C	T120641571C	HGD	NM_000187.4(HGD):c.879+18A>G	noncoding	Benign
3	120646333	C	A	C120646333A	HGD	NM_000187.4(HGD):c.583G>T:p.Glu195Ter	coding	Pathogenic
3	120650841	C	T	C120650841T	HGD	NM_000187.4(HGD):c.367G>A:p.Gly123Arg	coding	Pathogenic/Likely_pathogenic
3	120650848	A	G	A120650848G	HGD	NM_000187.4(HGD):c.360T>C:p.Cys120=	coding	Benign/Likely_benign
3	120650849	C	A	C120650849A	HGD	NM_000187.4(HGD):c.359G>T:p.Cys120Phe	coding	Pathogenic
3	120652567	G	A	G120652567A	HGD	NM_000187.4(HGD):c.342+25C>T	noncoding	Benign
3	120652591	C	A	C120652591A	HGD	NM_000187.4(HGD):c.342+1G>T	noncoding	Pathogenic/Likely_pathogenic
3	120670523	A	C	A120670523C	HGD	NM_000187.4(HGD):c.186T>G:p.Tyr62Ter	coding	Pathogenic
3	120674952	T	G	T120674952G	HGD	NM_000187.4(HGD):c.125A>C:p.Glu42Ala	coding	Pathogenic
3	120682101	A	G	A120682101G	HGD	NM_000187.4(HGD):c.11T>C:p.Leu4Ser	coding	Pathogenic
3	120682101	A	T	A120682101T	HGD	NM_000187.4(HGD):c.11T>A:p.Leu4Ter	coding	Pathogenic/Likely_pathogenic
3	121488790	G	T	G121488790T	POLQ	NM_199420.4(POLQ):c.4141C>A:p.Pro1381Thr	coding	Benign
3	121519902	G	A	G121519902A	POLQ	NM_199420.4(POLQ):c.1437C>T:p.Gly479=	coding	Benign
3	121544797	C	A	C121544797A	POLQ	NM_199420.4(POLQ):c.273G>T:p.Lys91Asn	coding	Benign
3	121772265	G	C	G121772265C	IQCB1	NM_001023570.4(IQCB1):c.1567+292C>G	noncoding	Benign
3	121772615	G	C	G121772615C	IQCB1	NM_001023570.4(IQCB1):c.1509C>G:p.Ala503=	coding	Benign/Likely_benign
3	121781456	A	C	A121781456C	IQCB1	NM_001023570.4(IQCB1):c.1410+287T>G	noncoding	Benign
3	121781820	G	A	G121781820A	IQCB1	NM_001023570.4(IQCB1):c.1333C>T:p.Arg445Ter	coding	Pathogenic
3	121788368	C	T	C121788368T	IQCB1	NM_001023570.4(IQCB1):c.1194G>A:p.Trp398Ter	coding	Pathogenic
3	121788568	C	T	C121788568T	IQCB1	NM_001023570.4(IQCB1):c.1130-136G>A	noncoding	Benign
3	121789983	A	T	A121789983T	IQCB1	NM_001023570.4(IQCB1):c.1129+90T>A	noncoding	Benign
3	121789992	T	A	T121789992A	IQCB1	NM_001023570.4(IQCB1):c.1129+81A>T	noncoding	Benign
3	121790232	G	A	G121790232A	IQCB1	NM_001023570.4(IQCB1):c.987-17C>T	noncoding	Benign
3	121790527	T	C	T121790527C	IQCB1	NM_001023570.4(IQCB1):c.987-312A>G	noncoding	Benign
3	121790533	A	G	A121790533G	IQCB1	NM_001023570.4(IQCB1):c.987-318T>C	noncoding	Benign
3	121795314	T	C	T121795314C	IQCB1	NM_001023570.4(IQCB1):c.986+143A>G	noncoding	Benign
3	121797218	C	T	C121797218T	IQCB1	NM_001023570.4(IQCB1):c.776G>A:p.Arg259His	coding	Benign
3	121798986	G	A	G121798986A	IQCB1	NM_001023570.4(IQCB1):c.766+210C>T	noncoding	Benign
3	121799361	T	A	T121799361A	IQCB1	NM_001023570.4(IQCB1):c.601A>T:p.Arg201Ter	coding	Pathogenic
3	121799379	T	C	T121799379C	IQCB1	NM_001023570.4(IQCB1):c.588-5A>G	noncoding	Benign
3	121799468	G	A	G121799468A	IQCB1	NM_001023570.4(IQCB1):c.588-94C>T	noncoding	Benign
3	121807190	T	G	T121807190G	IQCB1	NM_001023570.4(IQCB1):c.587+154A>C	noncoding	Benign
3	121807252	A	G	A121807252G	IQCB1	NM_001023570.4(IQCB1):c.587+92T>C	noncoding	Benign
3	121807260	C	T	C121807260T	IQCB1	NM_001023570.4(IQCB1):c.587+84G>A	noncoding	Benign
3	121807534	G	A	G121807534A	IQCB1	NM_001023570.4(IQCB1):c.488-91C>T	noncoding	Benign
3	121808672	A	T	A121808672T	IQCB1	NM_001023570.4(IQCB1):c.487+244T>A	noncoding	Benign
3	121808740	G	A	G121808740A	IQCB1	NM_001023570.4(IQCB1):c.487+176C>T	noncoding	Benign
3	121828555	G	A	G121828555A	IQCB1	NM_001023570.4(IQCB1):c.178C>T:p.Gln60Ter	coding	Pathogenic
3	121828596	A	T	A121828596T	IQCB1	NM_001023570.4(IQCB1):c.137T>A:p.Leu46Ter	coding	Pathogenic
3	121829015	G	A	G121829015A	IQCB1	NM_001023570.4(IQCB1):c.-12-43C>T	noncoding	Benign
3	121992916	G	A	G121992916A	ILDR1	NM_001199799.2(ILDR1):c.1599+234C>T	noncoding	Benign
3	121993444	G	T	G121993444T	ILDR1	NM_001199799.2(ILDR1):c.1305C>A:p.Ser435Arg	coding	Benign/Likely_benign
3	121993929	G	A	G121993929A	ILDR1	NM_001199799.2(ILDR1):c.820C>T:p.Gln274Ter	coding	Pathogenic
3	121994133	C	T	C121994133T	ILDR1	NM_001199799.2(ILDR1):c.778+49G>A	noncoding	Benign
3	121994185	G	A	G121994185A	ILDR1	NM_001199799.2(ILDR1):c.775C>T:p.Arg259Ter	coding	Pathogenic
3	122001647	C	T	C122001647T	ILDR1	NM_001199799.2(ILDR1):c.499+98G>A	noncoding	Benign
3	122005191	G	A	G122005191A	ILDR1	NM_001199799.2(ILDR1):c.379+53C>T	noncoding	Benign
3	122005234	C	G	C122005234G	ILDR1	NM_001199799.2(ILDR1):c.379+10G>C	noncoding	Benign/Likely_benign
3	122006856	A	G	A122006856G	ILDR1	NM_001199799.2(ILDR1):c.229+135T>C	noncoding	Benign
3	122006995	T	C	T122006995C	ILDR1	NM_001199799.2(ILDR1):c.225A>G:p.Ser75=	coding	Benign/Likely_benign
3	122022003	A	G	A122022003G	ILDR1	NM_001199799.2(ILDR1):c.58+17T>C	noncoding	Benign
3	122022069	C	T	C122022069T	ILDR1	NM_001199799.2(ILDR1):c.9G>A:p.Trp3Ter	coding	Pathogenic
3	122022317	G	C	G122022317C	ILDR1	Single_allele	noncoding	Benign
3	122119472	G	A	G122119472A	CD86	NM_175862.5(CD86):c.928G>A:p.Ala310Thr	coding	Benign
3	122183002	G	A	G122183002A	CASR	NC_000003.11:g.121901849G>A	noncoding	Benign
3	122254328	A	G	A122254328G	CASR	NM_000388.4(CASR):c.139A>G:p.Lys47Glu	coding	Pathogenic
3	122254346	T	C	T122254346C	CASR	NM_000388.4(CASR):c.157T>C:p.Ser53Pro	coding	Pathogenic
3	122257079	A	G	A122257079G	CASR	NM_000388.4(CASR):c.186-2A>G	noncoding	Pathogenic
3	122257092	G	A	G122257092A	CASR	NM_000388.4(CASR):c.197G>A:p.Arg66His	coding	Pathogenic/Likely_pathogenic
3	122257104	G	A	G122257104A	CASR	NM_000388.4(CASR):c.209G>A:p.Trp70Ter	coding	Pathogenic
3	122257244	C	T	C122257244T	CASR	NM_000388.4(CASR):c.349C>T:p.Gln117Ter	coding	Pathogenic
3	122261395	T	C	T122261395C	CASR	NM_000388.4(CASR):c.493-133T>C	noncoding	Benign
3	122261437	C	T	C122261437T	CASR	NM_000388.4(CASR):c.493-91C>T	noncoding	Benign
3	122261536	T	A	T122261536A	CASR	NM_000388.4(CASR):c.501T>A:p.Tyr167Ter	coding	Pathogenic
3	122261553	T	C	T122261553C	CASR	NM_000388.4(CASR):c.518T>C:p.Leu173Pro	coding	Pathogenic
3	122262091	G	A	G122262091A	CASR	NM_000388.4(CASR):c.1056G>A:p.Trp352Ter	coding	Pathogenic
3	122262116	C	T	C122262116T	CASR	NM_000388.4(CASR):c.1081C>T:p.Gln361Ter	coding	Pathogenic
3	122262411	A	G	A122262411G	CASR	NM_000388.4(CASR):c.1376A>G:p.Gln459Arg	coding	Pathogenic/Likely_pathogenic
3	122275976	T	G	T122275976G	CASR	NM_000388.4(CASR):c.1542T>G:p.Tyr514Ter	coding	Pathogenic
3	122276023	G	A	G122276023A	CASR	NM_000388.4(CASR):c.1589G>A:p.Trp530Ter	coding	Pathogenic
3	122276094	G	A	G122276094A	CASR	NM_000388.4(CASR):c.1608+52G>A	noncoding	Benign
3	122282024	C	T	C122282024T	CASR	NM_000388.4(CASR):c.1609-89C>T	noncoding	Benign
3	122282218	G	T	G122282218T	CASR	NM_000388.4(CASR):c.1714G>T:p.Glu572Ter	coding	Pathogenic
3	122283962	G	C	G122283962C	CASR	NM_000388.4(CASR):c.2008G>C:p.Gly670Arg	coding	Pathogenic
3	122283992	C	T	C122283992T	CASR	NM_000388.4(CASR):c.2038C>T:p.Arg680Cys	coding	Pathogenic/Likely_pathogenic
3	122284108	G	A	G122284108A	CASR	NM_000388.4(CASR):c.2154G>A:p.Trp718Ter	coding	Pathogenic
3	122284110	G	A	G122284110A	CASR	NM_000388.4(CASR):c.2156G>A:p.Trp719Ter	coding	Pathogenic
3	122284347	C	T	C122284347T	CASR	NM_000388.4(CASR):c.2393C>T:p.Pro798Leu	coding	Pathogenic/Likely_pathogenic
3	122284359	A	G	A122284359G	CASR	NM_000388.4(CASR):c.2405A>G:p.Asn802Ser	coding	Pathogenic/Likely_pathogenic
3	122325058	T	C	T122325058C	CSTA	Single_allele	noncoding	Benign
3	122325236	A	G	A122325236G	CSTA	Single_allele	noncoding	Benign
3	122337585	C	T	C122337585T	CSTA	NM_005213.4(CSTA):c.105C>T:p.Tyr35=	coding	Benign
3	122341230	G	A	G122341230A	CSTA	NM_005213.4(CSTA):c.169-209G>A	noncoding	Benign
3	122341427	A	C	A122341427C	CSTA	NM_005213.4(CSTA):c.169-12A>C	noncoding	Benign
3	122341557	C	T	C122341557T	CSTA	NM_005213.4(CSTA):c.287C>T:p.Thr96Met	coding	Benign
3	122911476	T	G	T122911476G	SEMA5B	NM_001031702.4(SEMA5B):c.3091+15A>C	coding	Benign
3	122911499	T	C	T122911499C	SEMA5B	NM_001031702.4(SEMA5B):c.3083A>G:p.Asp1028Gly	coding	Benign
3	123284682	G	A	G123284682A	ADCY5	NM_183357.3(ADCY5):c.3712C>T:p.Arg1238Trp	coding	Pathogenic
3	123287077	A	G	A123287077G	ADCY5	NM_183357.3(ADCY5):c.3533-268T>C	noncoding	Benign
3	123289672	T	G	T123289672G	ADCY5	NM_183357.3(ADCY5):c.3532+78A>C	noncoding	Benign
3	123289730	C	A	C123289730A	ADCY5	NM_183357.3(ADCY5):c.3532+20G>T	noncoding	Benign/Likely_benign
3	123290065	G	A	G123290065A	ADCY5	NM_183357.3(ADCY5):c.3328-111C>T	noncoding	Benign
3	123290198	G	A	G123290198A	ADCY5	NM_183357.3(ADCY5):c.3328-244C>T	noncoding	Benign
3	123290977	C	T	C123290977T	ADCY5	NM_183357.3(ADCY5):c.3327+136G>A	noncoding	Benign
3	123291012	C	T	C123291012T	ADCY5	NM_183357.3(ADCY5):c.3327+101G>A	noncoding	Benign
3	123291104	G	A	G123291104A	ADCY5	NM_183357.3(ADCY5):c.3327+9C>T	noncoding	Benign
3	123291391	C	A	C123291391A	ADCY5	NM_183357.3(ADCY5):c.3064-15G>T	noncoding	Benign
3	123291394	C	T	C123291394T	ADCY5	NM_183357.3(ADCY5):c.3064-18G>A	noncoding	Benign/Likely_benign
3	123291429	G	A	G123291429A	ADCY5	NM_183357.3(ADCY5):c.3064-53C>T	noncoding	Benign
3	123291516	C	T	C123291516T	ADCY5	NM_183357.3(ADCY5):c.3064-140G>A	noncoding	Benign
3	123291693	G	A	G123291693A	ADCY5	NM_183357.3(ADCY5):c.3064-317C>T	noncoding	Benign
3	123295826	C	T	C123295826T	ADCY5	NM_183357.3(ADCY5):c.3063+258G>A	noncoding	Benign
3	123295868	A	G	A123295868G	ADCY5	NM_183357.3(ADCY5):c.3063+216T>C	noncoding	Benign
3	123295922	C	T	C123295922T	ADCY5	NM_183357.3(ADCY5):c.3063+162G>A	noncoding	Benign
3	123296030	C	T	C123296030T	ADCY5	NM_183357.3(ADCY5):c.3063+54G>A	noncoding	Benign
3	123296057	C	T	C123296057T	ADCY5	NM_183357.3(ADCY5):c.3063+27G>A	noncoding	Benign
3	123296066	A	C	A123296066C	ADCY5	NM_183357.3(ADCY5):c.3063+18T>G	noncoding	Benign
3	123296102	G	T	G123296102T	ADCY5	NM_183357.3(ADCY5):c.3045C>A:p.Asp1015Glu	coding	Pathogenic
3	123296247	G	C	G123296247C	ADCY5	NM_183357.3(ADCY5):c.2931-31C>G	noncoding	Benign
3	123296459	G	A	G123296459A	ADCY5	NM_183357.3(ADCY5):c.2931-243C>T	noncoding	Benign
3	123296474	A	G	A123296474G	ADCY5	NM_183357.3(ADCY5):c.2931-258T>C	noncoding	Benign
3	123297073	T	C	T123297073C	ADCY5	NM_183357.3(ADCY5):c.2930+280A>G	noncoding	Benign
3	123297189	G	A	G123297189A	ADCY5	NM_183357.3(ADCY5):c.2930+164C>T	noncoding	Benign
3	123299866	G	C	G123299866C	ADCY5	NM_183357.3(ADCY5):c.2900+254C>G	noncoding	Benign
3	123299883	C	G	C123299883G	ADCY5	NM_183357.3(ADCY5):c.2900+237G>C	noncoding	Benign
3	123300116	A	G	A123300116G	ADCY5	NM_183357.3(ADCY5):c.2900+4T>C	noncoding	Benign
3	123300149	G	A	G123300149A	ADCY5	NM_183357.3(ADCY5):c.2871C>T:p.Asn957=	coding	Benign
3	123300257	G	A	G123300257A	ADCY5	NM_183357.3(ADCY5):c.2763C>T:p.Cys921=	coding	Benign
3	123300307	G	C	G123300307C	ADCY5	NM_183357.3(ADCY5):c.2725-12C>G	noncoding	Benign
3	123300467	C	A	C123300467A	ADCY5	NM_183357.3(ADCY5):c.2725-172G>T	noncoding	Benign
3	123300480	T	C	T123300480C	ADCY5	NM_183357.3(ADCY5):c.2725-185A>G	noncoding	Benign
3	123300572	A	G	A123300572G	ADCY5	NM_183357.3(ADCY5):c.2725-277T>C	noncoding	Benign
3	123302451	T	C	T123302451C	ADCY5	NM_183357.3(ADCY5):c.2724+604A>G	noncoding	Benign
3	123302863	T	C	T123302863C	ADCY5	NM_183357.3(ADCY5):c.2724+192A>G	noncoding	Benign
3	123302991	A	G	A123302991G	ADCY5	NM_183357.3(ADCY5):c.2724+64T>C	noncoding	Benign
3	123303023	G	C	G123303023C	ADCY5	NM_183357.3(ADCY5):c.2724+32C>G	noncoding	Benign
3	123303130	C	T	C123303130T	ADCY5	NM_183357.3(ADCY5):c.2649G>A:p.Glu883=	coding	Benign
3	123303214	C	T	C123303214T	ADCY5	NM_183357.3(ADCY5):c.2565G>A:p.Thr855=	coding	Benign
3	123303521	T	C	T123303521C	ADCY5	NM_183357.3(ADCY5):c.2560-302A>G	noncoding	Benign
3	123303916	C	A	C123303916A	ADCY5	NM_183357.3(ADCY5):c.2559+151G>T	noncoding	Benign
3	123303923	C	T	C123303923T	ADCY5	NM_183357.3(ADCY5):c.2559+144G>A	noncoding	Benign
3	123304128	T	C	T123304128C	ADCY5	NM_183357.3(ADCY5):c.2498A>G:p.Asn833Ser	coding	Benign
3	123313968	G	T	G123313968T	ADCY5	NM_183357.3(ADCY5):c.2442+267C>A	noncoding	Benign
3	123318063	C	T	C123318063T	ADCY5	NM_183357.3(ADCY5):c.2311G>A:p.Val771Ile	coding	Benign
3	123318096	G	A	G123318096A	ADCY5	NM_183357.3(ADCY5):c.2278C>T:p.Arg760Ter	coding	Pathogenic
3	123318196	A	G	A123318196G	ADCY5	NM_183357.3(ADCY5):c.2257-79T>C	noncoding	Benign
3	123318200	A	C	A123318200C	ADCY5	NM_183357.3(ADCY5):c.2257-83T>G	noncoding	Benign
3	123318210	T	G	T123318210G	ADCY5	NM_183357.3(ADCY5):c.2257-93A>C	noncoding	Benign
3	123319692	C	A	C123319692A	ADCY5	NM_183357.3(ADCY5):c.2238G>T:p.Glu746Asp	coding	Benign
3	123320631	A	C	A123320631C	ADCY5	NM_183357.3(ADCY5):c.2111+118T>G	noncoding	Benign
3	123320649	A	G	A123320649G	ADCY5	NM_183357.3(ADCY5):c.2111+100T>C	noncoding	Benign
3	123320737	C	T	C123320737T	ADCY5	NM_183357.3(ADCY5):c.2111+12G>A	noncoding	Benign
3	123320961	G	A	G123320961A	ADCY5	NM_183357.3(ADCY5):c.2089-190C>T	noncoding	Benign
3	123325708	T	C	T123325708C	ADCY5	NM_183357.3(ADCY5):c.1948-246A>G	noncoding	Benign
3	123327617	C	A	C123327617A	ADCY5	NM_183357.3(ADCY5):c.1947+1G>T	noncoding	Pathogenic
3	123327678	G	A	G123327678A	ADCY5	NM_183357.3(ADCY5):c.1887C>T:p.Asn629=	coding	Benign
3	123327726	G	A	G123327726A	ADCY5	NM_183357.3(ADCY5):c.1839C>T:p.Tyr613=	coding	Benign
3	123328451	C	T	C123328451T	ADCY5	NM_183357.3(ADCY5):c.1805+193G>A	noncoding	Benign
3	123328631	A	G	A123328631G	ADCY5	NM_183357.3(ADCY5):c.1805+13T>C	noncoding	Benign
3	123328687	C	T	C123328687T	ADCY5	NM_183357.3(ADCY5):c.1762G>A:p.Asp588Asn	coding	Pathogenic
3	123328733	G	A	G123328733A	ADCY5	NM_183357.3(ADCY5):c.1716C>T:p.Cys572=	coding	Benign
3	123328775	G	A	G123328775A	ADCY5	NM_183357.3(ADCY5):c.1674C>T:p.Asn558=	coding	Benign
3	123330831	C	T	C123330831T	ADCY5	NM_183357.3(ADCY5):c.1646+58G>A	noncoding	Benign
3	123330860	G	T	G123330860T	ADCY5	NM_183357.3(ADCY5):c.1646+29C>A	noncoding	Benign
3	123330871	C	T	C123330871T	ADCY5	NM_183357.3(ADCY5):c.1646+18G>A	noncoding	Benign
3	123331091	A	C	A123331091C	ADCY5	NM_183357.3(ADCY5):c.1519-75T>G	noncoding	Benign
3	123332383	G	A	G123332383A	ADCY5	NM_183357.3(ADCY5):c.1518+181C>T	noncoding	Benign
3	123332546	C	T	C123332546T	ADCY5	NM_183357.3(ADCY5):c.1518+18G>A	noncoding	Benign
3	123332937	T	G	T123332937G	ADCY5	NM_183357.3(ADCY5):c.1407-262A>C	noncoding	Benign
3	123347638	G	T	G123347638T	ADCY5	NM_183357.3(ADCY5):c.1406+144C>A	noncoding	Benign
3	123348006	C	T	C123348006T	ADCY5	NM_183357.3(ADCY5):c.1285-103G>A	noncoding	Benign
3	123348018	C	T	C123348018T	ADCY5	NM_183357.3(ADCY5):c.1285-115G>A	noncoding	Benign
3	123352507	G	A	G123352507A	ADCY5	NM_183357.3(ADCY5):c.1209C>T:p.Ser403=	coding	Benign
3	123352846	G	C	G123352846C	ADCY5	NM_183357.3(ADCY5):c.1135-265C>G	noncoding	Benign
3	123415963	A	G	A123415963G	ADCY5	NM_183357.3(ADCY5):c.1134+31449T>C	noncoding	Benign
3	123416107	T	G	T123416107G	ADCY5	NM_183357.3(ADCY5):c.1134+31305A>C	noncoding	Benign
3	123416397	G	A	G123416397A	ADCY5	NM_183357.3(ADCY5):c.1134+31015C>T	noncoding	Benign
3	123416602	T	C	T123416602C	ADCY5	NM_183357.3(ADCY5):c.1134+30810A>G	noncoding	Benign
3	123416621	G	T	G123416621T	ADCY5	NM_183357.3(ADCY5):c.1134+30791C>A	noncoding	Benign
3	123447784	C	G	C123447784G	ADCY5	NM_183357.3(ADCY5):c.762G>C:p.Leu254=	coding	Benign
3	123447793	G	A	G123447793A	ADCY5	NM_183357.3(ADCY5):c.753C>T:p.Leu251=	coding	Benign/Likely_benign
3	123447849	A	G	A123447849G	ADCY5	NM_183357.3(ADCY5):c.697T>C:p.Tyr233His	coding	Pathogenic
3	123447950	G	A	G123447950A	ADCY5	NM_183357.3(ADCY5):c.596C>T:p.Pro199Leu	coding	Benign
3	123447994	G	C	G123447994C	ADCY5	NM_183357.3(ADCY5):c.552C>G:p.Ser184=	coding	Benign
3	123448195	C	T	C123448195T	ADCY5	NM_183357.3(ADCY5):c.351G>A:p.Arg117=	coding	Benign/Likely_benign
3	123448402	G	A	G123448402A	ADCY5	NM_183357.3(ADCY5):c.144C>T:p.Gly48=	coding	Benign
3	123448517	G	A	G123448517A	ADCY5	NM_183357.3(ADCY5):c.29C>T:p.Pro10Leu	coding	Benign/Likely_benign
3	123448732	C	G	C123448732G	ADCY5	NM_183357.3(ADCY5):c.-187G>C	noncoding	Benign
3	123647373	C	T	C123647373T	MYLK	NM_053025.4(MYLK):c.4470G>A:p.Trp1490Ter	coding	Pathogenic
3	123666300	G	A	G123666300A	MYLK	NM_053025.4(MYLK):c.3750C>T:p.Arg1250=	coding	Benign/Likely_benign
3	123682214	G	A	G123682214A	MYLK	NM_053025.4(MYLK):c.3652+10C>T	noncoding	Benign/Likely_benign
3	123696934	C	T	C123696934T	MYLK	NM_053025.4(MYLK):c.3448+3086G>A	noncoding	Benign
3	123700237	G	T	G123700237T	MYLK	NM_053025.4(MYLK):c.3231C>A:p.Cys1077Ter	coding	Pathogenic
3	123700259	T	C	T123700259C	MYLK	NM_053025.4(MYLK):c.3209A>G:p.Asp1070Gly	coding	Benign
3	123700708	G	A	G123700708A	MYLK	NM_053025.4(MYLK):c.2760C>T:p.Ala920=	coding	Benign/Likely_benign
3	123701418	C	T	C123701418T	MYLK	NM_053025.4(MYLK):c.2462+20G>A	noncoding	Benign/Likely_benign
3	123708683	G	A	G123708683A	MYLK	NM_053025.4(MYLK):c.2140+15C>T	noncoding	Benign/Likely_benign
3	123708768	C	T	C123708768T	MYLK	NM_053025.4(MYLK):c.2070G>A:p.Thr690=	coding	Benign/Likely_benign
3	123722161	G	A	G123722161A	MYLK	NM_053025.4(MYLK):c.1771C>T:p.Gln591Ter	coding	Pathogenic
3	123725921	G	C	G123725921C	MYLK	NM_053025.4(MYLK):c.1651+23C>G	noncoding	Benign
3	123733661	C	T	C123733661T	MYLK	NM_053025.4(MYLK):c.1309+26G>A	noncoding	Benign
3	124326102	C	T	C124326102T	KALRN	NM_001388419.1(KALRN):c.1215C>T:p.Phe405=	coding	Benign
3	124334472	G	A	G124334472A	KALRN	NM_001388419.1(KALRN):c.1624G>A:p.Val542Ile	coding	Benign
3	124674595	A	G	A124674595G	KALRN	NM_001388419.1(KALRN):c.7174A>G:p.Ser2392Gly	coding	Benign
3	124730083	T	G	T124730083G	UMPS	Single_allele	noncoding	Benign
3	124735327	A	G	A124735327G	UMPS	NM_000373.4(UMPS):c.310+81A>G	noncoding	Benign
3	124737895	G	C	G124737895C	UMPS	NM_000373.4(UMPS):c.638G>C:p.Gly213Ala	coding	Benign
3	124739969	C	G	C124739969G	UMPS	NM_000373.4(UMPS):c.983-55C>G	noncoding	Benign
3	124743863	G	C	G124743863C	UMPS	NM_000373.4(UMPS):c.1274-52G>C	noncoding	Benign
3	124744015	T	C	T124744015C	UMPS	NM_000373.4(UMPS):c.1374T>C:p.Asp458=	coding	Benign/Likely_benign
3	125232977	C	T	C125232977T	ZNF148	NM_021964.3(ZNF148):c.1749G>A:p.Pro583=	coding	Benign
3	126012318	C	T	C126012318T	SLC41A3	NM_017836.4(SLC41A3):c.1105+297G>A	noncoding	Benign
3	126033450	A	G	A126033450G	SLC41A3	NM_017836.4(SLC41A3):c.453+157T>C	noncoding	Benign
3	126050611	C	T	C126050611T	SLC41A3	NM_017836.4(SLC41A3):c.381+332G>A	noncoding	Benign
3	126050914	C	T	C126050914T	SLC41A3	NM_017836.4(SLC41A3):c.381+29G>A	noncoding	Benign
3	126051298	C	T	C126051298T	SLC41A3	NM_017836.4(SLC41A3):c.274-248G>A	noncoding	Benign
3	126056585	G	A	G126056585A	SLC41A3	NM_017836.4(SLC41A3):c.274-5535C>T	coding	Benign
3	126056975	G	A	G126056975A	SLC41A3	NM_017836.4(SLC41A3):c.274-5925C>T	noncoding	Benign
3	126067852	G	A	G126067852A	SLC41A3	NM_017836.4(SLC41A3):c.273+95C>T	noncoding	Benign
3	126067917	G	A	G126067917A	SLC41A3	NM_017836.4(SLC41A3):c.273+30C>T	noncoding	Benign
3	126068283	C	T	C126068283T	SLC41A3	NM_017836.4(SLC41A3):c.-27-37G>A	noncoding	Benign
3	126483414	G	A	G126483414A	UROC1	NM_144639.3(UROC1):c.1845C>T:p.Ala615=	coding	Benign
3	126489406	A	C	A126489406C	UROC1	NM_144639.3(UROC1):c.1609-31T>G	noncoding	Benign
3	126509567	G	A	G126509567A	UROC1	NM_144639.3(UROC1):c.351+18C>T	noncoding	Benign
3	126988962	C	T	C126988962T	PLXNA1	NM_032242.4(PLXNA1):c.369C>T:p.Ala123=	coding	Benign
3	126989610	T	C	T126989610C	PLXNA1	NM_032242.4(PLXNA1):c.1017T>C:p.Thr339=	coding	Benign
3	126989616	C	T	C126989616T	PLXNA1	NM_032242.4(PLXNA1):c.1023C>T:p.Phe341=	coding	Benign
3	126989804	C	T	C126989804T	PLXNA1	NM_032242.4(PLXNA1):c.1194+17C>T	noncoding	Benign
3	127003461	C	T	C127003461T	PLXNA1	NM_032242.4(PLXNA1):c.1509C>T:p.Thr503=	coding	Benign
3	127004641	C	T	C127004641T	PLXNA1	NM_032242.4(PLXNA1):c.1549C>T:p.Gln517Ter	coding	Pathogenic/Likely_pathogenic
3	127004706	C	T	C127004706T	PLXNA1	NM_032242.4(PLXNA1):c.1614C>T:p.His538=	coding	Benign
3	127004890	C	T	C127004890T	PLXNA1	NM_032242.4(PLXNA1):c.1625C>T:p.Ser542Leu	coding	Benign
3	127004999	C	T	C127004999T	PLXNA1	NM_032242.4(PLXNA1):c.1734C>T:p.Ser578=	coding	Benign
3	127006170	C	T	C127006170T	PLXNA1	NM_032242.4(PLXNA1):c.1989C>T:p.Val663=	coding	Benign
3	127007862	A	G	A127007862G	PLXNA1	NM_032242.4(PLXNA1):c.2061A>G:p.Thr687=	coding	Benign
3	127014131	C	T	C127014131T	PLXNA1	NM_032242.4(PLXNA1):c.2410+15C>T	noncoding	Benign
3	127014210	C	T	C127014210T	PLXNA1	NM_032242.4(PLXNA1):c.2439C>T:p.Arg813=	coding	Benign
3	127014217	T	C	T127014217C	PLXNA1	NM_032242.4(PLXNA1):c.2446T>C:p.Cys816Arg	coding	Pathogenic/Likely_pathogenic
3	127014486	C	T	C127014486T	PLXNA1	NM_032242.4(PLXNA1):c.2613C>T:p.Pro871=	coding	Benign
3	127014514	C	T	C127014514T	PLXNA1	NM_032242.4(PLXNA1):c.2641C>T:p.Arg881Trp	coding	Pathogenic/Likely_pathogenic
3	127015312	C	T	C127015312T	PLXNA1	NM_032242.4(PLXNA1):c.3006C>T:p.Ser1002=	coding	Benign
3	127016504	C	T	C127016504T	PLXNA1	NM_032242.4(PLXNA1):c.3015-13C>T	noncoding	Benign
3	127016610	C	T	C127016610T	PLXNA1	NM_032242.4(PLXNA1):c.3108C>T:p.Thr1036=	coding	Benign
3	127016991	G	A	G127016991A	PLXNA1	NM_032242.4(PLXNA1):c.3230G>A:p.Arg1077His	coding	Pathogenic
3	127017441	A	G	A127017441G	PLXNA1	NM_032242.4(PLXNA1):c.3293A>G:p.Asn1098Ser	coding	Benign
3	127018299	G	A	G127018299A	PLXNA1	NM_032242.4(PLXNA1):c.3666G>A:p.Arg1222=	coding	Benign
3	127018425	C	A	C127018425A	PLXNA1	NM_032242.4(PLXNA1):c.3792C>A:p.Leu1264=	coding	Benign
3	127020187	C	T	C127020187T	PLXNA1	NM_032242.4(PLXNA1):c.3896-15C>T	noncoding	Benign
3	127022168	G	A	G127022168A	PLXNA1	NM_032242.4(PLXNA1):c.4122G>A:p.Thr1374=	coding	Benign
3	127022831	G	A	G127022831A	PLXNA1	NM_032242.4(PLXNA1):c.4362+13G>A	noncoding	Benign
3	127028172	C	T	C127028172T	PLXNA1	NM_032242.4(PLXNA1):c.4510-9C>T	noncoding	Benign
3	127028347	G	A	G127028347A	PLXNA1	NM_032242.4(PLXNA1):c.4669+7G>A	noncoding	Benign
3	127028359	G	A	G127028359A	PLXNA1	NM_032242.4(PLXNA1):c.4669+19G>A	noncoding	Benign
3	127029448	C	T	C127029448T	PLXNA1	NM_032242.4(PLXNA1):c.4782C>T:p.Asp1594=	coding	Benign
3	127030236	C	T	C127030236T	PLXNA1	NM_032242.4(PLXNA1):c.5062-7C>T	noncoding	Benign
3	127032846	G	A	G127032846A	PLXNA1	NM_032242.4(PLXNA1):c.5595+10G>A	noncoding	Benign
3	127599409	G	A	G127599409A	MCM2	NM_004526.4(MCM2):c.98G>A:p.Arg33Gln	coding	Benign/Likely_benign
3	127599437	T	C	T127599437C	MCM2	NM_004526.4(MCM2):c.126T>C:p.Pro42=	coding	Benign
3	127599778	C	G	C127599778G	MCM2	NM_004526.4(MCM2):c.236+231C>G	noncoding	Benign
3	127604769	G	A	G127604769A	MCM2	NM_004526.4(MCM2):c.398G>A:p.Arg133His	coding	Benign/Likely_benign
3	127604792	A	G	A127604792G	MCM2	NM_004526.4(MCM2):c.412+9A>G	noncoding	Benign/Likely_benign
3	127604876	G	A	G127604876A	MCM2	NM_004526.4(MCM2):c.413-20G>A	noncoding	Benign
3	127605172	G	A	G127605172A	MCM2	NM_004526.4(MCM2):c.673+16G>A	noncoding	Benign
3	127606266	C	T	C127606266T	MCM2	NM_004526.4(MCM2):c.822C>T:p.Tyr274=	coding	Benign
3	127608477	C	T	C127608477T	MCM2	NM_004526.4(MCM2):c.1197C>T:p.Leu399=	coding	Benign/Likely_benign
3	127615755	G	A	G127615755A	MCM2	NM_004526.4(MCM2):c.1429-107G>A	noncoding	Benign
3	127615934	G	A	G127615934A	MCM2	NM_004526.4(MCM2):c.1501G>A:p.Gly501Arg	coding	Benign/Likely_benign
3	127617130	G	A	G127617130A	MCM2	NM_004526.4(MCM2):c.1773+12G>A	noncoding	Benign/Likely_benign
3	127617943	G	C	G127617943C	MCM2	NM_004526.4(MCM2):c.1901-26G>C	noncoding	Benign
3	127618066	C	T	C127618066T	MCM2	NM_004526.4(MCM2):c.1998C>T:p.Thr666=	coding	Benign
3	127618100	C	T	C127618100T	MCM2	NM_004526.4(MCM2):c.2013+19C>T	noncoding	Benign/Likely_benign
3	127618899	G	A	G127618899A	MCM2	NM_004526.4(MCM2):c.2014-128G>A	noncoding	Benign
3	127619115	C	T	C127619115T	MCM2	NM_004526.4(MCM2):c.2102C>T:p.Ala701Val	coding	Benign/Likely_benign
3	127620894	G	A	G127620894A	MCM2	NM_004526.4(MCM2):c.2448+14G>A	noncoding	Benign/Likely_benign
3	128052316	G	A	G128052316A	SEC61A1	Single_allele	noncoding	Benign
3	128055717	C	A	C128055717A	SEC61A1	NM_013336.4(SEC61A1):c.186C>A:p.Phe62Leu	coding	Pathogenic
3	128055879	A	G	A128055879G	SEC61A1	NM_013336.4(SEC61A1):c.220+128A>G	noncoding	Benign
3	128055880	A	C	A128055880C	SEC61A1	NM_013336.4(SEC61A1):c.220+129A>C	noncoding	Benign
3	128056637	G	T	G128056637T	SEC61A1	NM_013336.4(SEC61A1):c.221-72G>T	noncoding	Benign
3	128056656	C	T	C128056656T	SEC61A1	NM_013336.4(SEC61A1):c.221-53C>T	noncoding	Benign
3	128060121	T	C	T128060121C	SEC61A1	NM_013336.4(SEC61A1):c.372T>C:p.Thr124=	coding	Benign
3	128060377	C	T	C128060377T	SEC61A1	NM_013336.4(SEC61A1):c.463-131C>T	noncoding	Benign
3	128060463	G	A	G128060463A	SEC61A1	NM_013336.4(SEC61A1):c.463-45G>A	noncoding	Benign
3	128060669	C	T	C128060669T	SEC61A1	NM_013336.4(SEC61A1):c.616+8C>T	noncoding	Benign
3	128060790	G	T	G128060790T	SEC61A1	NM_013336.4(SEC61A1):c.616+129G>T	noncoding	Benign
3	128060850	A	C	A128060850C	SEC61A1	NM_013336.4(SEC61A1):c.616+189A>C	noncoding	Benign
3	128064855	A	T	A128064855T	SEC61A1	NM_013336.4(SEC61A1):c.617-22A>T	noncoding	Benign
3	128065275	T	C	T128065275C	SEC61A1	NM_013336.4(SEC61A1):c.777+238T>C	noncoding	Benign
3	128065298	G	A	G128065298A	SEC61A1	NM_013336.4(SEC61A1):c.777+261G>A	noncoding	Benign
3	128066708	G	A	G128066708A	SEC61A1	NM_013336.4(SEC61A1):c.778-246G>A	noncoding	Benign
3	128066758	C	T	C128066758T	SEC61A1	NM_013336.4(SEC61A1):c.778-196C>T	noncoding	Benign
3	128066960	C	A	C128066960A	SEC61A1	NM_013336.4(SEC61A1):c.784C>A:p.Arg262_Val263=	coding	Benign
3	128067447	T	G	T128067447G	SEC61A1	NM_013336.4(SEC61A1):c.1002T>G:p.Arg334_Ala335=	coding	Benign
3	128067708	G	A	G128067708A	SEC61A1	NM_013336.4(SEC61A1):c.1167+96G>A	noncoding	Benign
3	128067832	T	G	T128067832G	SEC61A1	NM_013336.4(SEC61A1):c.1168-151T>G	noncoding	Benign
3	128067979	G	A	G128067979A	SEC61A1	NM_013336.4(SEC61A1):c.1168-4G>A	noncoding	Benign/Likely_benign
3	128068067	G	A	G128068067A	SEC61A1	NM_013336.4(SEC61A1):c.1244+8G>A	noncoding	Benign
3	128068314	A	G	A128068314G	SEC61A1	NM_013336.4(SEC61A1):c.1244+255A>G	noncoding	Benign
3	128069566	C	T	C128069566T	SEC61A1	NM_013336.4(SEC61A1):c.1335C>T:p.Thr445_Gly446=	coding	Benign
3	128481269	C	T	C128481269T	GATA2	NM_032638.5(GATA2):c.1193G>A:p.Arg398Gln	coding	Pathogenic/Likely_pathogenic
3	128481691	G	A	G128481691A	GATA2	NM_032638.5(GATA2):c.1143+128C>T	noncoding	Benign
3	128481817	A	T	A128481817T	GATA2	NM_032638.5(GATA2):c.1143+2T>A	noncoding	Pathogenic
3	128481830	T	A	T128481830A	GATA2	NM_032638.5(GATA2):c.1132A>T:p.Lys378Ter	coding	Pathogenic
3	128481834	G	C	G128481834C	GATA2	NM_032638.5(GATA2):c.1128C>G:p.Tyr376Ter	coding	Pathogenic
3	128481834	G	T	G128481834T	GATA2	NM_032638.5(GATA2):c.1128C>A:p.Tyr376Ter	coding	Pathogenic
3	128481849	G	C	G128481849C	GATA2	NM_032638.5(GATA2):c.1113C>G:p.Asn371Lys	coding	Pathogenic/Likely_pathogenic
3	128481849	G	T	G128481849T	GATA2	NM_032638.5(GATA2):c.1113C>A:p.Asn371Lys	coding	Pathogenic/Likely_pathogenic
3	128481881	G	A	G128481881A	GATA2	NM_032638.5(GATA2):c.1081C>T:p.Arg361Cys	coding	Pathogenic/Likely_pathogenic
3	128481889	G	T	G128481889T	GATA2	NM_032638.5(GATA2):c.1073C>A:p.Thr358Asn	coding	Pathogenic
3	128481902	T	G	T128481902G	GATA2	NM_032638.5(GATA2):c.1060A>C:p.Thr354Pro	coding	Pathogenic
3	128481917	A	G	A128481917G	GATA2	NM_032638.5(GATA2):c.1045T>C:p.Cys349Arg	coding	Pathogenic/Likely_pathogenic
3	128481943	G	T	G128481943T	GATA2	NM_032638.5(GATA2):c.1019C>A:p.Ser340Ter	coding	Pathogenic
3	128481946	T	A	T128481946A	GATA2	NM_032638.5(GATA2):c.1018-2A>T	noncoding	Pathogenic
3	128481946	T	C	T128481946C	GATA2	NM_032638.5(GATA2):c.1018-2A>G	noncoding	Pathogenic
3	128482170	A	C	A128482170C	GATA2	NM_032638.5(GATA2):c.1018-226T>G	noncoding	Benign
3	128483156	G	T	G128483156T	GATA2	NM_032638.5(GATA2):c.1017+704C>A	noncoding	Benign
3	128483895	G	A	G128483895A	GATA2	NM_032638.5(GATA2):c.982C>T:p.Gln328Ter	coding	Pathogenic
3	128483925	C	T	C128483925T	GATA2	NM_032638.5(GATA2):c.952G>A:p.Ala318Thr	coding	Pathogenic
3	128483960	C	T	C128483960T	GATA2	NM_032638.5(GATA2):c.917G>A:p.Trp306Ter	coding	Pathogenic
3	128484163	G	T	G128484163T	GATA2	NM_032638.5(GATA2):c.872-158C>A	noncoding	Benign
3	128484192	A	G	A128484192G	GATA2	NM_032638.5(GATA2):c.872-187T>C	noncoding	Benign
3	128485385	G	A	G128485385A	GATA2	NM_032638.5(GATA2):c.871+342C>T	noncoding	Benign
3	128485729	G	T	G128485729T	GATA2	NM_032638.5(GATA2):c.869C>A:p.Ser290Ter	coding	Pathogenic
3	128485796	C	A	C128485796A	GATA2	NM_032638.5(GATA2):c.802G>T:p.Gly268Ter	coding	Pathogenic/Likely_pathogenic
3	128485928	C	A	C128485928A	GATA2	NM_032638.5(GATA2):c.670G>T:p.Glu224Ter	coding	Pathogenic
3	128486060	C	A	C128486060A	GATA2	NM_032638.5(GATA2):c.538G>T:p.Glu180Ter	coding	Pathogenic
3	128486063	T	A	T128486063A	GATA2	NM_032638.5(GATA2):c.535A>T:p.Lys179Ter	coding	Pathogenic
3	128486175	G	T	G128486175T	GATA2	NM_032638.5(GATA2):c.423C>A:p.Tyr141Ter	coding	Pathogenic
3	128486247	G	C	G128486247C	GATA2	NM_032638.5(GATA2):c.351C>G:p.Thr117=	coding	Pathogenic
3	128486385	A	G	A128486385G	GATA2	NM_032638.5(GATA2):c.230-17T>C	noncoding	Benign
3	128486855	G	C	G128486855C	GATA2	NM_032638.5(GATA2):c.177C>G:p.Tyr59Ter	coding	Pathogenic
3	128486871	G	T	G128486871T	GATA2	NM_032638.5(GATA2):c.161C>A:p.Ser54Ter	coding	Pathogenic
3	128486902	C	A	C128486902A	GATA2	NM_032638.5(GATA2):c.130G>T:p.Glu44Ter	coding	Pathogenic
3	128486974	G	A	G128486974A	GATA2	NM_032638.5(GATA2):c.58C>T:p.Gln20Ter	coding	Pathogenic
3	128806404	G	A	G128806404A	RAB7A	NM_004637.6(RAB7A):c.213G>A:p.Gln71=	coding	Benign/Likely_benign
3	128806866	C	T	C128806866T	RAB7A	NM_004637.6(RAB7A):c.399+276C>T	noncoding	Benign
3	128807625	A	T	A128807625T	RAB7A	NM_004637.6(RAB7A):c.482A>T:p.Asn161Ile	coding	Pathogenic
3	128879692	A	T	A128879692T	ACAD9	NM_014049.5(ACAD9):c.1A>T:p.Met1Leu	coding	Pathogenic
3	128879694	G	A	G128879694A	ACAD9	NM_014049.5(ACAD9):c.3G>A:p.Met1Ile	coding	Pathogenic
3	128879800	C	T	C128879800T	ACAD9	NM_014049.5(ACAD9):c.109C>T:p.Arg37Ter	coding	Pathogenic
3	128884453	T	C	T128884453C	ACAD9	NM_014049.5(ACAD9):c.151-200T>C	noncoding	Benign
3	128884689	G	T	G128884689T	ACAD9	NM_014049.5(ACAD9):c.187G>T:p.Glu63Ter	coding	Pathogenic
3	128884707	C	T	C128884707T	ACAD9	NM_014049.5(ACAD9):c.205C>T:p.Gln69Ter	coding	Pathogenic
3	128893386	A	T	A128893386T	ACAD9	NM_014049.5(ACAD9):c.245-169A>T	noncoding	Benign
3	128893563	C	T	C128893563T	ACAD9	NM_014049.5(ACAD9):c.253C>T:p.Arg85Ter	coding	Pathogenic
3	128893650	G	T	G128893650T	ACAD9	NM_014049.5(ACAD9):c.340G>T:p.Glu114Ter	coding	Pathogenic
3	128895697	C	T	C128895697T	ACAD9	NM_014049.5(ACAD9):c.453+281C>T	noncoding	Benign
3	128896416	T	C	T128896416C	ACAD9	NM_014049.5(ACAD9):c.454-20T>C	noncoding	Benign/Likely_benign
3	128897482	C	T	C128897482T	ACAD9	NM_014049.5(ACAD9):c.555-150C>T	noncoding	Benign
3	128897516	C	G	C128897516G	ACAD9	NM_014049.5(ACAD9):c.555-116C>G	noncoding	Benign
3	128899449	C	T	C128899449T	ACAD9	NM_014049.5(ACAD9):c.796C>T:p.Arg266Trp	coding	Pathogenic/Likely_pathogenic
3	128899478	C	T	C128899478T	ACAD9	NM_014049.5(ACAD9):c.808+17C>T	noncoding	Benign
3	128899481	G	A	G128899481A	ACAD9	NM_014049.5(ACAD9):c.808+20G>A	noncoding	Benign/Likely_benign
3	128899523	G	T	G128899523T	ACAD9	NM_014049.5(ACAD9):c.808+62G>T	noncoding	Benign
3	128901563	C	T	C128901563T	ACAD9	NM_014049.5(ACAD9):c.882+214C>T	noncoding	Benign
3	128902895	T	C	T128902895C	ACAD9	NM_014049.5(ACAD9):c.958+267T>C	noncoding	Benign
3	128903917	G	T	G128903917T	ACAD9	NM_014049.5(ACAD9):c.959-145G>T	noncoding	Benign
3	128904562	C	T	C128904562T	ACAD9	NM_014049.5(ACAD9):c.1149+57C>T	noncoding	Benign
3	128905967	C	T	C128905967T	ACAD9	NM_014049.5(ACAD9):c.1150-154C>T	noncoding	Benign
3	128906037	T	G	T128906037G	ACAD9	NM_014049.5(ACAD9):c.1150-84T>G	noncoding	Benign
3	128906139	G	A	G128906139A	ACAD9	NM_014049.5(ACAD9):c.1168G>A:p.Ala390Thr	coding	Pathogenic/Likely_pathogenic
3	128906189	C	A	C128906189A	ACAD9	NM_014049.5(ACAD9):c.1218C>A:p.Tyr406Ter	coding	Pathogenic
3	128906211	C	A	C128906211A	ACAD9	NM_014049.5(ACAD9):c.1240C>A:p.Arg414Ser	coding	Pathogenic
3	128906211	C	T	C128906211T	ACAD9	NM_014049.5(ACAD9):c.1240C>T:p.Arg414Cys	coding	Pathogenic/Likely_pathogenic
3	128906250	G	A	G128906250A	ACAD9	NM_014049.5(ACAD9):c.1278+1G>A	coding	Pathogenic
3	128906402	C	T	C128906402T	ACAD9	NM_014049.5(ACAD9):c.1278+153C>T	noncoding	Benign
3	128908109	T	C	T128908109C	ACAD9	NM_014049.5(ACAD9):c.1279-76T>C	noncoding	Benign
3	128908204	G	A	G128908204A	ACAD9	NM_014049.5(ACAD9):c.1298G>A:p.Arg433Gln	coding	Pathogenic
3	128908401	C	G	C128908401G	ACAD9	NM_014049.5(ACAD9):c.1358+137C>G	noncoding	Benign
3	128908462	G	A	G128908462A	ACAD9	NM_014049.5(ACAD9):c.1358+198G>A	noncoding	Benign
3	128908468	G	C	G128908468C	ACAD9	NM_014049.5(ACAD9):c.1358+204G>C	noncoding	Benign
3	128908671	A	G	A128908671G	ACAD9	NM_014049.5(ACAD9):c.1359-302A>G	noncoding	Benign
3	128908777	T	C	T128908777C	ACAD9	NM_014049.5(ACAD9):c.1359-196T>C	noncoding	Benign
3	128908910	T	C	T128908910C	ACAD9	NM_014049.5(ACAD9):c.1359-63T>C	noncoding	Benign
3	128909076	G	T	G128909076T	ACAD9	NM_014049.5(ACAD9):c.1462G>T:p.Gly488Ter	coding	Pathogenic
3	128909410	C	T	C128909410T	ACAD9	NM_014049.5(ACAD9):c.1552C>T:p.Arg518Cys	coding	Pathogenic/Likely_pathogenic
3	128909658	G	C	G128909658C	ACAD9	NM_014049.5(ACAD9):c.1563+237G>C	noncoding	Benign
3	128910051	C	T	C128910051T	ACAD9	NM_014049.5(ACAD9):c.1594C>T:p.Arg532Trp	coding	Pathogenic/Likely_pathogenic
3	128910434	C	T	C128910434T	ACAD9	NM_001394090.1(CFAP92):c.3281-101G>A	noncoding	Benign/Likely_benign
3	128912334	C	T	C128912334T	ACAD9	NM_014049.5(ACAD9):c.1766-173C>T	noncoding	Benign
3	128912587	C	T	C128912587T	ACAD9	NM_014049.5(ACAD9):c.1846C>T:p.Pro616Ser	coding	Pathogenic
3	129171507	G	A	G129171507A	CNBP	NM_003418.5(CNBP):c.156C>T:p.Asp52=	coding	Benign
3	129431751	A	C	A129431751C	MBD4	NM_001276270.2(MBD4):c.1648-173T>G	noncoding	Benign
3	129432824	A	G	A129432824G	MBD4	NM_001276270.2(MBD4):c.1544-218T>C	noncoding	Benign
3	129433084	G	A	G129433084A	MBD4	NM_001276270.2(MBD4):c.1543+14C>T	noncoding	Benign
3	129433246	G	A	G129433246A	MBD4	NM_001276270.2(MBD4):c.1395C>T:p.Gly465=	coding	Benign
3	129433301	T	C	T129433301C	MBD4	NM_001276270.2(MBD4):c.1394-54A>G	noncoding	Benign
3	129433387	C	T	C129433387T	MBD4	NM_001276270.2(MBD4):c.1394-140G>A	noncoding	Benign
3	129433741	C	T	C129433741T	MBD4	NM_001276270.2(MBD4):c.1393+109G>A	noncoding	Benign
3	129434193	G	C	G129434193C	MBD4	NM_001276270.2(MBD4):c.1184-57C>G	noncoding	Benign
3	129436571	A	G	A129436571G	MBD4	NM_001276270.2(MBD4):c.1073T>C:p.Ile358Thr	coding	Benign
3	129436608	C	T	C129436608T	MBD4	NM_001276270.2(MBD4):c.1036G>A:p.Glu346Lys	coding	Benign
3	129436620	A	G	A129436620G	MBD4	NM_001276270.2(MBD4):c.1024T>C:p.Ser342Pro	coding	Benign
3	129436827	C	T	C129436827T	MBD4	NM_001276270.2(MBD4):c.817G>A:p.Ala273Thr	coding	Benign
3	129437488	T	A	T129437488A	MBD4	NM_001276270.2(MBD4):c.336-180A>T	noncoding	Benign
3	129437693	A	G	A129437693G	MBD4	NM_001276270.2(MBD4):c.335+27T>C	noncoding	Benign
3	129437838	G	A	G129437838A	MBD4	NM_001276270.2(MBD4):c.217C>T:p.Gln73Ter	coding	Pathogenic
3	129449606	T	C	T129449606C	IFT122	NM_052989.3(IFT122):c.42-265T>C	noncoding	Benign
3	129458503	C	T	C129458503T	IFT122	NM_052989.3(IFT122):c.194-96C>T	noncoding	Benign
3	129460897	C	A	C129460897A	IFT122	NM_052989.3(IFT122):c.273-331C>A	coding	Benign
3	129463638	T	C	T129463638C	IFT122	NM_052989.3(IFT122):c.416+12T>C	noncoding	Benign
3	129463745	T	C	T129463745C	IFT122	NM_052989.3(IFT122):c.416+119T>C	noncoding	Benign
3	129464560	G	T	G129464560T	IFT122	NM_052989.3(IFT122):c.417-75G>T	noncoding	Benign
3	129466818	C	A	C129466818A	IFT122	NM_052989.3(IFT122):c.564-72C>A	noncoding	Benign
3	129469119	C	G	C129469119G	IFT122	NM_052989.3(IFT122):c.741-223C>G	noncoding	Benign
3	129469180	T	G	T129469180G	IFT122	NM_052989.3(IFT122):c.741-162T>G	noncoding	Benign
3	129469237	C	T	C129469237T	IFT122	NM_052989.3(IFT122):c.741-105C>T	noncoding	Benign
3	129469482	G	A	G129469482A	IFT122	NM_052989.3(IFT122):c.816+65G>A	noncoding	Benign
3	129476097	T	G	T129476097G	IFT122	NM_052989.3(IFT122):c.817-218T>G	noncoding	Benign
3	129476128	A	G	A129476128G	IFT122	NM_052989.3(IFT122):c.817-187A>G	noncoding	Benign
3	129476143	C	G	C129476143G	IFT122	NM_052989.3(IFT122):c.817-172C>G	noncoding	Benign
3	129476945	C	T	C129476945T	IFT122	NM_052989.3(IFT122):c.1147+144C>T	noncoding	Benign
3	129478272	C	G	C129478272G	IFT122	NM_052989.3(IFT122):c.1350+54C>G	noncoding	Benign
3	129479473	C	T	C129479473T	IFT122	NM_052989.3(IFT122):c.1351-312C>T	noncoding	Benign
3	129479566	G	T	G129479566T	IFT122	NM_052989.3(IFT122):c.1351-219G>T	noncoding	Benign
3	129479951	G	T	G129479951T	IFT122	NM_052989.3(IFT122):c.1488+29G>T	noncoding	Benign
3	129481413	T	G	T129481413G	IFT122	NM_052989.3(IFT122):c.1489-117T>G	noncoding	Benign
3	129481929	A	C	A129481929C	IFT122	NM_052989.3(IFT122):c.1653+235A>C	noncoding	Benign
3	129483801	G	T	G129483801T	IFT122	NM_052989.3(IFT122):c.1851+119G>T	noncoding	Benign
3	129487953	G	T	G129487953T	IFT122	NM_052989.3(IFT122):c.1852-304G>T	noncoding	Benign
3	129488348	A	C	A129488348C	IFT122	NM_052989.3(IFT122):c.1943A>C:p.Glu648Ala	coding	Benign/Likely_benign
3	129488466	C	G	C129488466G	IFT122	NM_052989.3(IFT122):c.1992+69C>G	noncoding	Benign
3	129492024	C	A	C129492024A	IFT122	NM_052989.3(IFT122):c.1993-117C>A	noncoding	Benign
3	129492337	C	T	C129492337T	IFT122	NM_052989.3(IFT122):c.2046+143C>T	noncoding	Benign
3	129495668	G	A	G129495668A	IFT122	NM_052989.3(IFT122):c.2208+61G>A	noncoding	Benign
3	129495737	G	C	G129495737C	IFT122	NM_052989.3(IFT122):c.2208+130G>C	noncoding	Benign
3	129495814	G	A	G129495814A	IFT122	NM_052989.3(IFT122):c.2208+207G>A	noncoding	Benign
3	129499605	G	C	G129499605C	IFT122	NM_052989.3(IFT122):c.2209-297G>C	noncoding	Benign
3	129500081	C	T	C129500081T	IFT122	NM_052989.3(IFT122):c.2375+13C>T	noncoding	Benign
3	129500132	T	C	T129500132C	IFT122	NM_052989.3(IFT122):c.2375+64T>C	noncoding	Benign
3	129502506	C	G	C129502506G	IFT122	NM_052989.3(IFT122):c.2376-205C>G	noncoding	Benign
3	129504134	T	C	T129504134C	IFT122	NM_052989.3(IFT122):c.2548-185T>C	noncoding	Benign
3	129506426	C	T	C129506426T	IFT122	NM_052989.3(IFT122):c.2668C>T:p.Arg890Ter	coding	Pathogenic
3	129512590	G	C	G129512590C	IFT122	NM_052989.3(IFT122):c.2987+178G>C	noncoding	Benign
3	129514298	G	A	G129514298A	IFT122	NM_052989.3(IFT122):c.2988-91G>A	noncoding	Benign
3	129514770	C	T	C129514770T	IFT122	NM_052989.3(IFT122):c.3153+216C>T	noncoding	Benign
3	129515164	G	A	G129515164A	IFT122	NM_052989.3(IFT122):c.3154-324G>A	noncoding	Benign
3	129515416	T	C	T129515416C	IFT122	NM_052989.3(IFT122):c.3154-72T>C	noncoding	Benign
3	129517303	G	C	G129517303C	IFT122	NM_052989.3(IFT122):c.3266-166G>C	noncoding	Benign
3	129519087	C	T	C129519087T	IFT122	NM_052989.3(IFT122):c.3392-20C>T	noncoding	Benign
3	129519266	G	A	G129519266A	IFT122	NM_052989.3(IFT122):c.3471+80G>A	noncoding	Benign
3	129520265	A	G	A129520265G	IFT122	NM_052989.3(IFT122):c.3726A>G:p.Ter1242Trp	coding	Pathogenic
3	129520526	C	T	C129520526T	IFT122	Single_allele	noncoding	Benign
3	129528763	C	T	C129528763T	RHO	NM_000539.3(RHO):c.30C>T:p.Tyr10=	coding	Benign
3	129528778	T	G	T129528778G	RHO	NM_000539.3(RHO):c.45T>G:p.Asn15Lys	coding	Pathogenic/Likely_pathogenic
3	129528817	G	T	G129528817T	RHO	NM_000539.3(RHO):c.84G>T:p.Gln28His	coding	Pathogenic
3	129528839	C	T	C129528839T	RHO	NM_000539.3(RHO):c.106C>T:p.Gln36Ter	coding	Pathogenic
3	129528849	T	G	T129528849G	RHO	NM_000539.3(RHO):c.116T>G:p.Met39Arg	coding	Pathogenic/Likely_pathogenic
3	129528898	C	A	C129528898A	RHO	NM_000539.3(RHO):c.165C>A:p.Asn55Lys	coding	Pathogenic/Likely_pathogenic
3	129528898	C	G	C129528898G	RHO	NM_000539.3(RHO):c.165C>G:p.Asn55Lys	coding	Pathogenic
3	129528929	A	T	A129528929T	RHO	NM_000539.3(RHO):c.196A>T:p.Lys66Ter	coding	Pathogenic
3	129529039	C	G	C129529039G	RHO	NM_000539.3(RHO):c.306C>G:p.Tyr102Ter	coding	Pathogenic
3	129529070	G	A	G129529070A	RHO	NM_000539.3(RHO):c.337G>A:p.Glu113Lys	coding	Pathogenic
3	129530894	C	T	C129530894T	RHO	NM_000539.3(RHO):c.380C>T:p.Ser127Phe	coding	Pathogenic
3	129531041	C	T	C129531041T	RHO	NM_000539.3(RHO):c.527C>T:p.Ser176Phe	coding	Pathogenic/Likely_pathogenic
3	129532265	G	A	G129532265A	RHO	NM_000539.3(RHO):c.545G>A:p.Gly182Asp	coding	Pathogenic
3	129532265	G	T	G129532265T	RHO	NM_000539.3(RHO):c.545G>T:p.Gly182Val	coding	Pathogenic
3	129532367	T	A	T129532367A	RHO	NM_000539.3(RHO):c.647T>A:p.Met216Lys	coding	Pathogenic/Likely_pathogenic
3	129532367	T	G	T129532367G	RHO	NM_000539.3(RHO):c.647T>G:p.Met216Arg	coding	Pathogenic/Likely_pathogenic
3	129532581	G	T	G129532581T	RHO	NM_000539.3(RHO):c.745G>T:p.Glu249Ter	coding	Pathogenic/Likely_pathogenic
3	129532635	C	A	C129532635A	RHO	NM_000539.3(RHO):c.799C>A:p.Pro267Thr	coding	Pathogenic
3	129532646	C	A	C129532646A	RHO	NM_000539.3(RHO):c.810C>A:p.Ser270Arg	coding	Pathogenic/Likely_pathogenic
3	129532731	G	T	G129532731T	RHO	NM_000539.3(RHO):c.895G>T:p.Ala299Ser	coding	Benign
3	129532770	C	T	C129532770T	RHO	NM_000539.3(RHO):c.934C>T:p.Gln312Ter	coding	Pathogenic
3	129533585	G	A	G129533585A	RHO	NM_000539.3(RHO):c.937-23G>A	noncoding	Benign
3	129533716	T	C	T129533716C	RHO	NM_000539.3(RHO):c.1045T>C:p.Ter349Gln	coding	Pathogenic/Likely_pathogenic
3	129533716	T	G	T129533716G	RHO	NM_000539.3(RHO):c.1045T>G:p.Ter349Glu	coding	Pathogenic
3	129561907	G	C	G129561907C	PLXND1	NM_015103.3(PLXND1):c.4826-4C>G	noncoding	Benign
3	129562875	C	T	C129562875T	PLXND1	NM_015103.3(PLXND1):c.4737G>A:p.Thr1579=	coding	Benign
3	129565975	A	C	A129565975C	PLXND1	NM_015103.3(PLXND1):c.4234T>G:p.Leu1412Val	coding	Benign
3	129572908	T	C	T129572908C	PLXND1	NM_015103.3(PLXND1):c.2871A>G:p.Pro957=	coding	Benign
3	129827886	T	C	T129827886C	TMCC1	NM_001017395.5(TMCC1):c.493A>G:p.Ser165Gly	coding	Benign
3	130385219	T	C	T130385219C	COL6A5	NM_001278298.2(COL6A5):c.1716T>C:p.Thr572=	coding	Benign
3	130385363	A	G	A130385363G	COL6A5	NM_001278298.2(COL6A5):c.1860A>G:p.Lys620=	coding	Benign
3	130410478	G	C	G130410478C	COL6A5	NM_001278298.2(COL6A5):c.4616G>C:p.Ser1539Thr	coding	Benign
3	130565440	G	A	G130565440A	COL6A6	NM_001102608.3(COL6A6):c.1108G>A:p.Ala370Thr	coding	Benign
3	130567085	C	T	C130567085T	COL6A6	NM_001102608.3(COL6A6):c.1666C>T:p.Pro556Ser	coding	Benign
3	130649225	A	G	A130649225G	COL6A6	NM_001102608.3(COL6A6):c.5396A>G:p.His1799Arg	coding	Benign
3	130649457	G	A	G130649457A	COL6A6	NM_001102608.3(COL6A6):c.5628G>A:p.Ala1876=	coding	Benign
3	130850343	C	T	C130850343T	ATP2C1	Single_allele	noncoding	Benign
3	130850713	T	G	T130850713G	ATP2C1	NM_001199180.2(ATP2C1):c.-108T>G	noncoding	Benign
3	130930702	T	C	T130930702C	ATP2C1	NM_001378687.1(ATP2C1):c.117+176T>C	noncoding	Benign
3	130930853	A	G	A130930853G	ATP2C1	NM_001378687.1(ATP2C1):c.117+327A>G	noncoding	Benign
3	130931782	A	G	A130931782G	ATP2C1	NM_001378687.1(ATP2C1):c.118-240A>G	noncoding	Benign
3	130932156	C	T	C130932156T	ATP2C1	NM_001378687.1(ATP2C1):c.234+18C>T	noncoding	Benign
3	130932216	T	C	T130932216C	ATP2C1	NM_001378687.1(ATP2C1):c.234+78T>C	noncoding	Benign
3	130932252	T	C	T130932252C	ATP2C1	NM_001378687.1(ATP2C1):c.234+114T>C	noncoding	Benign
3	130932453	A	T	A130932453T	ATP2C1	NM_001378687.1(ATP2C1):c.234+315A>T	noncoding	Benign
3	130934728	A	G	A130934728G	ATP2C1	NM_001378687.1(ATP2C1):c.324+17A>G	noncoding	Benign
3	130937682	C	T	C130937682T	ATP2C1	NM_001378687.1(ATP2C1):c.360+219C>T	noncoding	Benign
3	130940486	G	A	G130940486A	ATP2C1	NM_001378687.1(ATP2C1):c.361-144G>A	noncoding	Benign
3	130940806	A	T	A130940806T	ATP2C1	NM_001378687.1(ATP2C1):c.422+115A>T	noncoding	Benign
3	130941327	C	A	C130941327A	ATP2C1	NM_001378687.1(ATP2C1):c.423-264C>A	noncoding	Benign
3	130941431	T	G	T130941431G	ATP2C1	NM_001378687.1(ATP2C1):c.423-160T>G	noncoding	Benign
3	130941964	C	T	C130941964T	ATP2C1	NM_001378687.1(ATP2C1):c.531+265C>T	noncoding	Benign
3	130955078	G	T	G130955078T	ATP2C1	NM_001378687.1(ATP2C1):c.754G>T:p.Glu252Ter	coding	Pathogenic
3	130955178	A	G	A130955178G	ATP2C1	NM_001378687.1(ATP2C1):c.756+98A>G	noncoding	Benign
3	130959626	C	A	C130959626A	ATP2C1	NM_001378687.1(ATP2C1):c.899+285C>A	noncoding	Benign
3	130964132	C	T	C130964132T	ATP2C1	NM_001378687.1(ATP2C1):c.1024+37C>T	noncoding	Benign
3	130964217	A	G	A130964217G	ATP2C1	NM_001378687.1(ATP2C1):c.1024+122A>G	noncoding	Benign
3	130964840	A	G	A130964840G	ATP2C1	NM_001378687.1(ATP2C1):c.1025-108A>G	noncoding	Benign
3	130964901	A	G	A130964901G	ATP2C1	NM_001378687.1(ATP2C1):c.1025-47A>G	noncoding	Benign
3	130965194	C	G	C130965194G	ATP2C1	NM_001378687.1(ATP2C1):c.1122+149C>G	noncoding	Benign
3	130965225	A	G	A130965225G	ATP2C1	NM_001378687.1(ATP2C1):c.1122+180A>G	noncoding	Benign
3	130966913	T	C	T130966913C	ATP2C1	NM_001378687.1(ATP2C1):c.1123-232T>C	noncoding	Benign
3	130966946	G	A	G130966946A	ATP2C1	NM_001378687.1(ATP2C1):c.1123-199G>A	noncoding	Benign
3	130966965	A	C	A130966965C	ATP2C1	NM_001378687.1(ATP2C1):c.1123-180A>C	noncoding	Benign
3	130967002	A	T	A130967002T	ATP2C1	NM_001378687.1(ATP2C1):c.1123-143A>T	noncoding	Benign
3	130967571	T	G	T130967571G	ATP2C1	NM_001378687.1(ATP2C1):c.1308+152T>G	noncoding	Benign
3	130969113	T	A	T130969113A	ATP2C1	NM_001378687.1(ATP2C1):c.1309-179T>A	noncoding	Benign
3	130994116	G	A	G130994116A	ATP2C1	NM_001378687.1(ATP2C1):c.2057+18G>A	noncoding	Benign
3	130996023	C	G	C130996023G	ATP2C1	NM_001378687.1(ATP2C1):c.2058-20C>G	noncoding	Benign
3	130996042	G	A	G130996042A	ATP2C1	NM_001378687.1(ATP2C1):c.2058-1G>A	noncoding	Pathogenic
3	130996112	G	A	G130996112A	ATP2C1	NM_001378687.1(ATP2C1):c.2126+1G>A	coding	Pathogenic
3	130996224	A	G	A130996224G	ATP2C1	NM_001378687.1(ATP2C1):c.2126+113A>G	noncoding	Benign
3	130996904	A	C	A130996904C	ATP2C1	NM_001378687.1(ATP2C1):c.2243+108A>C	noncoding	Benign
3	130996970	A	G	A130996970G	ATP2C1	NM_001378687.1(ATP2C1):c.2243+174A>G	noncoding	Benign
3	130998076	A	C	A130998076C	ATP2C1	NM_001378687.1(ATP2C1):c.2392-218A>C	noncoding	Benign
3	130998297	C	T	C130998297T	ATP2C1	NM_001378687.1(ATP2C1):c.2395C>T:p.Arg799Ter	coding	Pathogenic
3	130998677	A	G	A130998677G	ATP2C1	NM_001378687.1(ATP2C1):c.2487+288A>G	noncoding	Benign
3	130999312	A	T	A130999312T	ATP2C1	NM_001378687.1(ATP2C1):c.2488-206A>T	noncoding	Benign
3	131462839	C	T	C131462839T	MRPL3	NM_007208.4(MRPL3):c.931G>A:p.Gly311Ser	coding	Benign/Likely_benign
3	131471103	G	A	G131471103A	MRPL3	NM_007208.4(MRPL3):c.738+68C>T	noncoding	Benign
3	131471294	C	T	C131471294T	MRPL3	NM_007208.4(MRPL3):c.630-15G>A	noncoding	Benign/Likely_benign
3	131498364	T	C	T131498364C	MRPL3	NM_007208.4(MRPL3):c.370-87A>G	noncoding	Benign
3	131501409	C	T	C131501409T	MRPL3	NM_007208.4(MRPL3):c.277+122G>A	noncoding	Benign
3	131502785	G	A	G131502785A	MRPL3	NM_007208.4(MRPL3):c.37C>T:p.Gln13Ter	coding	Pathogenic
3	132434768	A	G	A132434768G	DNAJC13	NM_015268.4(DNAJC13):c.68+150A>G	noncoding	Benign
3	132446211	T	A	T132446211A	DNAJC13	NM_015268.4(DNAJC13):c.69-264T>A	noncoding	Benign
3	132446334	A	T	A132446334T	DNAJC13	NM_015268.4(DNAJC13):c.69-141A>T	noncoding	Benign
3	132447161	A	G	A132447161G	DNAJC13	NM_015268.4(DNAJC13):c.145-160A>G	noncoding	Benign
3	132447422	T	G	T132447422G	DNAJC13	NM_015268.4(DNAJC13):c.246T>G:p.Thr82=	coding	Benign
3	132447458	T	G	T132447458G	DNAJC13	NM_015268.4(DNAJC13):c.282T>G:p.Leu94=	coding	Benign/Likely_benign
3	132447637	C	T	C132447637T	DNAJC13	NM_015268.4(DNAJC13):c.294+167C>T	noncoding	Benign
3	132448050	G	A	G132448050A	DNAJC13	NM_015268.4(DNAJC13):c.336+111G>A	noncoding	Benign
3	132448171	C	T	C132448171T	DNAJC13	NM_015268.4(DNAJC13):c.336+232C>T	noncoding	Benign
3	132450861	T	A	T132450861A	DNAJC13	NM_015268.4(DNAJC13):c.537+14T>A	noncoding	Benign
3	132453264	A	T	A132453264T	DNAJC13	NM_015268.4(DNAJC13):c.538-34A>T	noncoding	Benign
3	132453551	C	T	C132453551T	DNAJC13	NM_015268.4(DNAJC13):c.744+47C>T	noncoding	Benign
3	132455915	A	G	A132455915G	DNAJC13	NM_015268.4(DNAJC13):c.933-320A>G	noncoding	Benign
3	132456934	C	T	C132456934T	DNAJC13	NM_015268.4(DNAJC13):c.1349+102C>T	noncoding	Benign
3	132456935	C	A	C132456935A	DNAJC13	NM_015268.4(DNAJC13):c.1349+103C>A	noncoding	Benign
3	132457413	C	G	C132457413G	DNAJC13	NM_015268.4(DNAJC13):c.1449+45C>G	noncoding	Benign
3	132457466	G	C	G132457466C	DNAJC13	NM_015268.4(DNAJC13):c.1449+98G>C	noncoding	Benign
3	132457547	C	T	C132457547T	DNAJC13	NM_015268.4(DNAJC13):c.1449+179C>T	noncoding	Benign
3	132460391	T	C	T132460391C	DNAJC13	NM_015268.4(DNAJC13):c.1557+34T>C	noncoding	Benign
3	132460551	T	C	T132460551C	DNAJC13	NM_015268.4(DNAJC13):c.1557+194T>C	noncoding	Benign
3	132460807	C	T	C132460807T	DNAJC13	NM_015268.4(DNAJC13):c.1558-243C>T	noncoding	Benign
3	132462650	T	G	T132462650G	DNAJC13	NM_015268.4(DNAJC13):c.1770+127T>G	noncoding	Benign
3	132462808	T	C	T132462808C	DNAJC13	NM_015268.4(DNAJC13):c.1770+285T>C	noncoding	Benign
3	132464074	A	G	A132464074G	DNAJC13	NM_015268.4(DNAJC13):c.1892+257A>G	noncoding	Benign
3	132466570	T	A	T132466570A	DNAJC13	NM_015268.4(DNAJC13):c.2064+176T>A	noncoding	Benign
3	132467343	G	A	G132467343A	DNAJC13	NM_015268.4(DNAJC13):c.2208+30G>A	noncoding	Benign
3	132473285	T	C	T132473285C	DNAJC13	NM_015268.4(DNAJC13):c.2291+58T>C	noncoding	Benign
3	132474825	C	T	C132474825T	DNAJC13	NM_015268.4(DNAJC13):c.2292-107C>T	noncoding	Benign
3	132474826	C	T	C132474826T	DNAJC13	NM_015268.4(DNAJC13):c.2292-106C>T	noncoding	Benign
3	132475157	T	A	T132475157A	DNAJC13	NM_015268.4(DNAJC13):c.2445+72T>A	noncoding	Benign
3	132475238	G	T	G132475238T	DNAJC13	NM_015268.4(DNAJC13):c.2445+153G>T	noncoding	Benign
3	132477517	C	T	C132477517T	DNAJC13	NM_015268.4(DNAJC13):c.2446-272C>T	noncoding	Benign
3	132477917	G	A	G132477917A	DNAJC13	NM_015268.4(DNAJC13):c.2549+25G>A	noncoding	Benign
3	132477972	A	T	A132477972T	DNAJC13	NM_015268.4(DNAJC13):c.2550-9A>T	noncoding	Benign
3	132478955	C	G	C132478955G	DNAJC13	NM_015268.4(DNAJC13):c.2710-272C>G	noncoding	Benign
3	132479151	T	G	T132479151G	DNAJC13	NM_015268.4(DNAJC13):c.2710-76T>G	noncoding	Benign
3	132479213	A	G	A132479213G	DNAJC13	NM_015268.4(DNAJC13):c.2710-14A>G	noncoding	Benign
3	132479312	C	T	C132479312T	DNAJC13	NM_015268.4(DNAJC13):c.2772+23C>T	noncoding	Benign
3	132481875	T	G	T132481875G	DNAJC13	NM_015268.4(DNAJC13):c.2875-351T>G	noncoding	Benign
3	132483169	C	T	C132483169T	DNAJC13	NM_015268.4(DNAJC13):c.2980-206C>T	noncoding	Benign
3	132483605	T	A	T132483605A	DNAJC13	NM_015268.4(DNAJC13):c.3182+28T>A	noncoding	Benign
3	132484751	T	C	T132484751C	DNAJC13	NM_015268.4(DNAJC13):c.3267+79T>C	noncoding	Benign
3	132488524	T	C	T132488524C	DNAJC13	NM_015268.4(DNAJC13):c.3422+72T>C	noncoding	Benign
3	132488710	A	G	A132488710G	DNAJC13	NM_015268.4(DNAJC13):c.3422+258A>G	noncoding	Benign
3	132490811	T	A	T132490811A	DNAJC13	NM_015268.4(DNAJC13):c.3469-86T>A	noncoding	Benign
3	132492441	C	T	C132492441T	DNAJC13	NM_015268.4(DNAJC13):c.3651C>T:p.Ala1217=	coding	Benign
3	132492903	T	C	T132492903C	DNAJC13	NM_015268.4(DNAJC13):c.3825+288T>C	noncoding	Benign
3	132493841	A	G	A132493841G	DNAJC13	NM_015268.4(DNAJC13):c.3826-303A>G	noncoding	Benign
3	132495352	C	T	C132495352T	DNAJC13	NM_015268.4(DNAJC13):c.4020+186C>T	noncoding	Benign
3	132496927	G	A	G132496927A	DNAJC13	NM_015268.4(DNAJC13):c.4156+264G>A	noncoding	Benign
3	132498952	G	A	G132498952A	DNAJC13	NM_015268.4(DNAJC13):c.4157-174G>A	noncoding	Benign
3	132499113	T	G	T132499113G	DNAJC13	NM_015268.4(DNAJC13):c.4157-13T>G	noncoding	Benign
3	132499352	C	T	C132499352T	DNAJC13	NM_015268.4(DNAJC13):c.4341+42C>T	noncoding	Benign
3	132499779	G	T	G132499779T	DNAJC13	NM_015268.4(DNAJC13):c.4387G>T:p.Ala1463Ser	coding	Benign
3	132499980	T	C	T132499980C	DNAJC13	NM_015268.4(DNAJC13):c.4416+172T>C	noncoding	Benign
3	132500039	T	C	T132500039C	DNAJC13	NM_015268.4(DNAJC13):c.4416+231T>C	noncoding	Benign
3	132500710	T	C	T132500710C	DNAJC13	NM_015268.4(DNAJC13):c.4417-84T>C	noncoding	Benign
3	132502295	C	T	C132502295T	DNAJC13	NM_015268.4(DNAJC13):c.4543C>T:p.Pro1515Ser	coding	Benign/Likely_benign
3	132505139	T	C	T132505139C	DNAJC13	NM_015268.4(DNAJC13):c.4885-163T>C	noncoding	Benign
3	132505284	G	A	G132505284A	DNAJC13	NM_015268.4(DNAJC13):c.4885-18G>A	noncoding	Benign
3	132507256	A	G	A132507256G	DNAJC13	NM_015268.4(DNAJC13):c.5018A>G:p.Tyr1673Cys	coding	Benign
3	132510864	A	G	A132510864G	DNAJC13	NM_015268.4(DNAJC13):c.5116-203A>G	noncoding	Benign
3	132511266	C	T	C132511266T	DNAJC13	NM_015268.4(DNAJC13):c.5293+22C>T	noncoding	Benign
3	132514432	T	A	T132514432A	DNAJC13	NM_015268.4(DNAJC13):c.5386-139T>A	noncoding	Benign
3	132514828	G	A	G132514828A	DNAJC13	NM_015268.4(DNAJC13):c.5485+158G>A	noncoding	Benign
3	132514868	G	C	G132514868C	DNAJC13	NM_015268.4(DNAJC13):c.5485+198G>C	noncoding	Benign
3	132516142	A	G	A132516142G	DNAJC13	NM_015268.4(DNAJC13):c.5486-280A>G	noncoding	Benign
3	132516178	G	T	G132516178T	DNAJC13	NM_015268.4(DNAJC13):c.5486-244G>T	noncoding	Benign
3	132516200	A	C	A132516200C	DNAJC13	NM_015268.4(DNAJC13):c.5486-222A>C	noncoding	Benign
3	132516203	A	G	A132516203G	DNAJC13	NM_015268.4(DNAJC13):c.5486-219A>G	noncoding	Benign
3	132516233	C	T	C132516233T	DNAJC13	NM_015268.4(DNAJC13):c.5486-189C>T	noncoding	Benign
3	132516500	A	T	A132516500T	DNAJC13	NM_015268.4(DNAJC13):c.5560+4A>T	noncoding	Benign
3	132516950	C	G	C132516950G	DNAJC13	NM_015268.4(DNAJC13):c.5673+134C>G	noncoding	Benign
3	132517146	G	A	G132517146A	DNAJC13	NM_015268.4(DNAJC13):c.5673+330G>A	noncoding	Benign
3	132522666	C	T	C132522666T	DNAJC13	NM_015268.4(DNAJC13):c.5674-162C>T	noncoding	Benign
3	132522669	G	C	G132522669C	DNAJC13	NM_015268.4(DNAJC13):c.5674-159G>C	noncoding	Benign
3	132523798	C	T	C132523798T	DNAJC13	NM_015268.4(DNAJC13):c.6060+85C>T	noncoding	Benign
3	132525469	C	T	C132525469T	DNAJC13	NM_015268.4(DNAJC13):c.6061-141C>T	noncoding	Benign
3	132525562	G	A	G132525562A	DNAJC13	NM_015268.4(DNAJC13):c.6061-48G>A	noncoding	Benign
3	132525908	C	T	C132525908T	DNAJC13	NM_015268.4(DNAJC13):c.6240+119C>T	noncoding	Benign
3	132525909	G	A	G132525909A	DNAJC13	NM_015268.4(DNAJC13):c.6240+120G>A	noncoding	Benign
3	132531183	G	C	G132531183C	DNAJC13	NM_015268.4(DNAJC13):c.6625+86G>C	noncoding	Benign
3	132538575	A	G	A132538575G	DNAJC13	NM_015268.4(DNAJC13):c.*293A>G	noncoding	Benign
3	132659715	C	A	C132659715A	UBA5	NM_032169.5(ACAD11):c.37G>T:p.Glu13Ter	coding	Pathogenic
3	132660538	A	G	A132660538G	UBA5	NM_024818.6(UBA5):c.1A>G:p.Met1Val	coding	Pathogenic
3	132671032	C	T	C132671032T	UBA5	NM_024818.6(UBA5):c.562C>T:p.Arg188Ter	coding	Pathogenic/Likely_pathogenic
3	132672126	T	C	T132672126C	UBA5	NM_024818.6(UBA5):c.761T>C:p.Leu254Pro	coding	Pathogenic
3	132675712	T	C	T132675712C	UBA5	NM_024818.6(UBA5):c.1024+32T>C	noncoding	Benign
3	132675940	A	T	A132675940T	UBA5	NM_024818.6(UBA5):c.1131+17A>T	noncoding	Benign
3	132682100	A	G	A132682100G	NPHP3	NM_153240.5(NPHP3):c.3813-10T>C	noncoding	Benign
3	132682586	A	G	A132682586G	NPHP3	NM_153240.5(NPHP3):c.3812+117T>C	noncoding	Benign
3	132682740	G	A	G132682740A	NPHP3	NM_153240.5(NPHP3):c.3775C>T:p.Arg1259Ter	coding	Pathogenic
3	132682969	G	C	G132682969C	NPHP3	NM_153240.5(NPHP3):c.3697-151C>G	noncoding	Benign
3	132684685	C	A	C132684685A	NPHP3	NM_153240.5(NPHP3):c.3439G>T:p.Glu1147Ter	coding	Pathogenic
3	132684718	G	A	G132684718A	NPHP3	NM_153240.5(NPHP3):c.3406C>T:p.Gln1136Ter	coding	Pathogenic
3	132686493	T	C	T132686493C	NPHP3	NM_153240.5(NPHP3):c.3202-106A>G	noncoding	Benign
3	132688790	G	C	G132688790C	NPHP3	NM_153240.5(NPHP3):c.2985C>G:p.Tyr995Ter	coding	Pathogenic
3	132690233	C	T	C132690233T	NPHP3	NM_153240.5(NPHP3):c.2693+295G>A	noncoding	Benign
3	132690511	T	C	T132690511C	NPHP3	NM_153240.5(NPHP3):c.2693+17A>G	noncoding	Benign/Likely_benign
3	132691191	C	A	C132691191A	NPHP3	NM_153240.5(NPHP3):c.2570+1G>T	noncoding	Pathogenic
3	132692742	C	T	C132692742T	NPHP3	NM_153240.5(NPHP3):c.2387G>A:p.Trp796Ter	coding	Pathogenic
3	132695031	G	A	G132695031A	NPHP3	NM_153240.5(NPHP3):c.2172-66C>T	noncoding	Benign
3	132695043	C	T	C132695043T	NPHP3	NM_153240.5(NPHP3):c.2172-78G>A	noncoding	Benign
3	132697007	G	C	G132697007C	NPHP3	NM_153240.5(NPHP3):c.2089-194C>G	noncoding	Benign
3	132699427	C	T	C132699427T	NPHP3	NM_153240.5(NPHP3):c.1911G>A:p.Trp637Ter	coding	Pathogenic
3	132700160	A	G	A132700160G	NPHP3	NM_153240.5(NPHP3):c.1744-99T>C	noncoding	Benign
3	132700307	G	C	G132700307C	NPHP3	NM_153240.5(NPHP3):c.1743+27C>G	noncoding	Benign
3	132700465	G	T	G132700465T	NPHP3	NM_153240.5(NPHP3):c.1629-17C>A	noncoding	Benign/Likely_benign
3	132704599	A	C	A132704599C	NPHP3	NM_153240.5(NPHP3):c.1351-228T>G	noncoding	Benign
3	132705620	C	T	C132705620T	NPHP3	NM_153240.5(NPHP3):c.1350+120G>A	noncoding	Benign
3	132712869	C	T	C132712869T	NPHP3	NM_153240.5(NPHP3):c.1118+257G>A	noncoding	Benign
3	132716688	C	T	C132716688T	NPHP3	NM_153240.5(NPHP3):c.823+69G>A	noncoding	Benign
3	132716979	C	T	C132716979T	NPHP3	NM_153240.5(NPHP3):c.671-70G>A	noncoding	Benign
3	132717027	A	G	A132717027G	NPHP3	NM_153240.5(NPHP3):c.671-118T>C	noncoding	Benign
3	132719255	C	T	C132719255T	NPHP3	NM_153240.5(NPHP3):c.520-111G>A	noncoding	Benign
3	132719457	T	C	T132719457C	NPHP3	NM_153240.5(NPHP3):c.519+248A>G	noncoding	Benign
3	132722738	G	C	G132722738C	NPHP3	Single_allele	noncoding	Benign
3	132722795	G	C	G132722795C	NPHP3	Single_allele	noncoding	Benign
3	133399728	C	T	C133399728T	BFSP2	Single_allele	noncoding	Benign
3	133400782	G	A	G133400782A	BFSP2	NM_003571.4(BFSP2):c.489+210G>A	noncoding	Benign
3	133400858	A	G	A133400858G	BFSP2	NM_003571.4(BFSP2):c.489+286A>G	noncoding	Benign
3	133400886	G	A	G133400886A	BFSP2	NM_003571.4(BFSP2):c.489+314G>A	noncoding	Benign
3	133447559	A	G	A133447559G	BFSP2	NM_003571.4(BFSP2):c.572+160A>G	noncoding	Benign
3	133448273	G	A	G133448273A	BFSP2	NM_003571.4(BFSP2):c.573-216G>A	noncoding	Benign
3	133448519	G	A	G133448519A	BFSP2	NM_003571.4(BFSP2):c.603G>A:p.Ala201=	coding	Benign
3	133466811	G	C	G133466811C	BFSP2	NM_003571.4(BFSP2):c.892-17G>C	noncoding	Benign/Likely_benign
3	133466990	T	C	T133466990C	BFSP2	NM_003571.4(BFSP2):c.1023+31T>C	noncoding	Benign
3	133467158	C	T	C133467158T	BFSP2	NM_003571.4(BFSP2):c.1023+199C>T	noncoding	Benign
3	133472249	A	G	A133472249G	BFSP2	NM_003571.4(BFSP2):c.1024-96A>G	noncoding	Benign
3	133472609	A	G	A133472609G	BFSP2	NM_003571.4(BFSP2):c.1244+44A>G	noncoding	Benign
3	133474713	T	C	T133474713C	BFSP2	NM_003571.4(BFSP2):c.1245-256T>C	noncoding	Benign
3	133655360	C	A	C133655360A	TOPBP1	NM_007027.4(TOPBP1):c.672G>T:p.Lys224Asn	coding	Benign
3	133766289	A	G	A133766289G	TF	NM_001063.4(TF):c.1342A>G:p.Ile448Val	coding	Benign
3	133935773	C	T	C133935773T	SLCO2A1	NM_005630.3(SLCO2A1):c.1814+1G>A	noncoding	Pathogenic
3	133936002	G	A	G133936002A	SLCO2A1	NM_005630.3(SLCO2A1):c.1691-105C>T	noncoding	Benign
3	133936157	G	A	G133936157A	SLCO2A1	NM_005630.3(SLCO2A1):c.1691-260C>T	noncoding	Benign
3	133938459	C	T	C133938459T	SLCO2A1	NM_005630.3(SLCO2A1):c.1660G>A:p.Gly554Arg	coding	Pathogenic
3	133938788	T	C	T133938788C	SLCO2A1	NM_005630.3(SLCO2A1):c.1626-295A>G	noncoding	Benign
3	133942508	G	T	G133942508T	SLCO2A1	NM_005630.3(SLCO2A1):c.1625+97C>A	noncoding	Benign
3	133942588	A	G	A133942588G	SLCO2A1	NM_005630.3(SLCO2A1):c.1625+17T>C	noncoding	Benign
3	133944837	A	G	A133944837G	SLCO2A1	NM_005630.3(SLCO2A1):c.1461+258T>C	noncoding	Benign
3	133947365	C	T	C133947365T	SLCO2A1	NM_005630.3(SLCO2A1):c.1186G>A:p.Ala396Thr	coding	Benign
3	133947659	C	T	C133947659T	SLCO2A1	NM_005630.3(SLCO2A1):c.1106-214G>A	noncoding	Benign
3	133948663	T	C	T133948663C	SLCO2A1	NM_005630.3(SLCO2A1):c.978A>G:p.Ser326=	coding	Benign
3	133948802	C	T	C133948802T	SLCO2A1	NM_005630.3(SLCO2A1):c.940+91G>A	noncoding	Benign
3	133951206	A	G	A133951206G	SLCO2A1	NM_005630.3(SLCO2A1):c.861+2T>C	noncoding	Pathogenic
3	133951222	G	A	G133951222A	SLCO2A1	NM_005630.3(SLCO2A1):c.847C>T:p.Pro283Ser	coding	Benign
3	133951229	T	C	T133951229C	SLCO2A1	NM_005630.3(SLCO2A1):c.840A>G:p.Arg280=	coding	Benign
3	133951381	T	C	T133951381C	SLCO2A1	NM_005630.3(SLCO2A1):c.725-37A>G	noncoding	Benign
3	133951547	A	C	A133951547C	SLCO2A1	NM_005630.3(SLCO2A1):c.725-203T>G	noncoding	Benign
3	133954970	G	T	G133954970T	SLCO2A1	NM_005630.3(SLCO2A1):c.621C>A:p.Tyr207Ter	coding	Pathogenic
3	133955044	C	T	C133955044T	SLCO2A1	NM_005630.3(SLCO2A1):c.547G>A:p.Gly183Arg	coding	Pathogenic
3	133973349	T	G	T133973349G	SLCO2A1	NM_005630.3(SLCO2A1):c.397+314A>C	noncoding	Benign
3	133973653	A	G	A133973653G	SLCO2A1	NM_005630.3(SLCO2A1):c.397+10T>C	noncoding	Benign
3	133973758	A	C	A133973758C	SLCO2A1	NM_005630.3(SLCO2A1):c.302T>G:p.Ile101Ser	coding	Pathogenic
3	133973899	C	T	C133973899T	SLCO2A1	NM_005630.3(SLCO2A1):c.235-74G>A	noncoding	Benign
3	133979436	C	G	C133979436G	SLCO2A1	NM_005630.3(SLCO2A1):c.234+45G>C	noncoding	Benign
3	133979505	C	T	C133979505T	SLCO2A1	NM_005630.3(SLCO2A1):c.210G>A:p.Ser70=	coding	Benign
3	134029945	T	C	T134029945C	SLCO2A1	Single_allele	noncoding	Benign
3	134030188	C	G	C134030188G	SLCO2A1	Single_allele	noncoding	Benign
3	134030326	T	G	T134030326G	SLCO2A1	Single_allele	noncoding	Benign
3	134495055	T	G	T134495055G	CEP63	NM_001353108.3(CEP63):c.-25-241T>G	noncoding	Benign
3	134495139	T	C	T134495139C	CEP63	NM_001353108.3(CEP63):c.-25-157T>C	noncoding	Benign
3	134495200	T	C	T134495200C	CEP63	NM_001353108.3(CEP63):c.-25-96T>C	noncoding	Benign
3	134507317	C	T	C134507317T	CEP63	NM_001353108.3(CEP63):c.222+31C>T	noncoding	Benign
3	134532197	A	G	A134532197G	CEP63	NM_001353108.3(CEP63):c.318+257A>G	noncoding	Benign
3	134532540	T	G	T134532540G	CEP63	NM_001353108.3(CEP63):c.319-238T>G	noncoding	Benign
3	134536912	G	T	G134536912T	CEP63	NM_001353108.3(CEP63):c.442-243G>T	noncoding	Benign
3	134537317	A	G	A134537317G	CEP63	NM_001353108.3(CEP63):c.555+49A>G	noncoding	Benign
3	134545607	C	T	C134545607T	CEP63	NM_001353108.3(CEP63):c.577C>T:p.Gln193Ter	coding	Pathogenic
3	134546017	A	C	A134546017C	CEP63	NM_001353108.3(CEP63):c.790-132A>C	noncoding	Benign
3	134546081	G	A	G134546081A	CEP63	NM_001353108.3(CEP63):c.790-68G>A	noncoding	Benign
3	134547001	A	G	A134547001G	CEP63	NM_001353108.3(CEP63):c.930-334A>G	noncoding	Benign
3	134547109	A	G	A134547109G	CEP63	NM_001353108.3(CEP63):c.930-226A>G	noncoding	Benign
3	134547282	A	G	A134547282G	CEP63	NM_001353108.3(CEP63):c.930-53A>G	noncoding	Benign
3	134547306	G	C	G134547306C	CEP63	NM_001353108.3(CEP63):c.930-29G>C	noncoding	Benign
3	134547485	A	G	A134547485G	CEP63	NM_001353108.3(CEP63):c.1067+13A>G	noncoding	Benign
3	134547605	T	G	T134547605G	CEP63	NM_001353108.3(CEP63):c.1067+133T>G	noncoding	Benign
3	134549777	A	G	A134549777G	CEP63	NM_001353108.3(CEP63):c.1183-286A>G	noncoding	Benign
3	134549895	A	C	A134549895C	CEP63	NM_001353108.3(CEP63):c.1183-168A>C	noncoding	Benign
3	134550069	G	T	G134550069T	CEP63	NM_001353108.3(CEP63):c.1189G>T:p.Glu397Ter	coding	Pathogenic
3	134551626	T	C	T134551626C	CEP63	NM_001353108.3(CEP63):c.1381-300T>C	noncoding	Benign
3	134552002	G	T	G134552002T	CEP63	NM_001353108.3(CEP63):c.1457G>T:p.Gly486Val	coding	Benign
3	134552044	A	C	A134552044C	CEP63	NM_001353108.3(CEP63):c.1467+32A>C	noncoding	Benign
3	134558459	G	A	G134558459A	CEP63	NM_001353108.3(CEP63):c.1673+112G>A	noncoding	Benign
3	134558898	T	C	T134558898C	CEP63	NM_001353108.3(CEP63):c.1674-252T>C	noncoding	Benign
3	134559198	C	A	C134559198A	CEP63	NM_001353108.3(CEP63):c.1722C>A:p.Tyr574Ter	coding	Pathogenic
3	134603271	G	A	G134603271A	KY	NM_178554.6(KY):c.*308C>T	noncoding	Benign
3	134603321	C	A	C134603321A	KY	NM_178554.6(KY):c.*258G>T	noncoding	Benign
3	134603672	T	C	T134603672C	KY	NM_178554.6(KY):c.1893A>G:p.Thr631=	coding	Benign
3	134603900	A	G	A134603900G	KY	NM_178554.6(KY):c.1665T>C:p.Leu555=	coding	Benign
3	134603972	G	C	G134603972C	KY	NM_178554.6(KY):c.1593C>G:p.Gly531=	coding	Benign
3	134604314	A	G	A134604314G	KY	NM_178554.6(KY):c.1251T>C:p.Phe417=	coding	Benign
3	134604680	G	A	G134604680A	KY	NM_178554.6(KY):c.1091-206C>T	noncoding	Benign
3	134609898	A	G	A134609898G	KY	NM_178554.6(KY):c.899+297T>C	noncoding	Benign
3	134610022	C	T	C134610022T	KY	NM_178554.6(KY):c.899+173G>A	noncoding	Benign
3	134619324	C	T	C134619324T	KY	NM_178554.6(KY):c.593-59G>A	noncoding	Benign
3	134624846	C	G	C134624846G	KY	NM_178554.6(KY):c.483+207G>C	noncoding	Benign
3	134625121	G	A	G134625121A	KY	NM_178554.6(KY):c.415C>T:p.Arg139Ter	coding	Pathogenic
3	134625340	C	T	C134625340T	KY	NM_178554.6(KY):c.401-205G>A	noncoding	Benign
3	134629796	C	A	C134629796A	KY	NM_178554.6(KY):c.263-101G>T	noncoding	Benign
3	134629954	G	A	G134629954A	KY	NM_178554.6(KY):c.263-259C>T	noncoding	Benign
3	134647578	G	A	G134647578A	KY	NM_178554.6(KY):c.137-81C>T	noncoding	Benign
3	134650578	G	A	G134650578A	KY	NM_178554.6(KY):c.136+247C>T	noncoding	Benign
3	134650874	C	A	C134650874A	KY	NM_178554.6(KY):c.87G>T:p.Thr29=	coding	Benign
3	134651299	T	C	T134651299C	KY	Single_allele	noncoding	Benign
3	136250389	T	G	T136250389G	PCCB	NM_000532.5(PCCB):c.14T>G:p.Leu5Ter	coding	Pathogenic/Likely_pathogenic
3	136261831	C	G	C136261831G	PCCB	NM_000532.5(PCCB):c.430-121C>G	noncoding	Benign
3	136261951	G	A	G136261951A	PCCB	NM_000532.5(PCCB):c.430-1G>A	noncoding	Pathogenic
3	136283893	T	A	T136283893A	PCCB	NM_000532.5(PCCB):c.600T>A:p.Cys200Ter	coding	Pathogenic
3	136283907	T	A	T136283907A	PCCB	NM_000532.5(PCCB):c.614T>A:p.Val205Asp	coding	Pathogenic
3	136284352	A	C	A136284352C	PCCB	NM_000532.5(PCCB):c.654+405A>C	noncoding	Benign
3	136293754	A	G	A136293754G	PCCB	NM_000532.5(PCCB):c.655-2A>G	noncoding	Pathogenic
3	136293838	G	T	G136293838T	PCCB	NM_000532.5(PCCB):c.737G>T:p.Gly246Val	coding	Pathogenic
3	136294108	A	G	A136294108G	PCCB	NM_000532.5(PCCB):c.763+244A>G	noncoding	Benign
3	136316965	G	T	G136316965T	PCCB	NM_000532.5(PCCB):c.991G>T:p.Glu331Ter	coding	Pathogenic
3	136326787	A	C	A136326787C	PCCB	NM_000532.5(PCCB):c.1091-16A>C	noncoding	Benign
3	136326858	T	A	T136326858A	PCCB	NM_000532.5(PCCB):c.1146T>A:p.Asp382Glu	coding	Pathogenic
3	136327268	T	C	T136327268C	PCCB	NM_000532.5(PCCB):c.1299+13T>C	noncoding	Benign/Likely_benign
3	136327643	G	A	G136327643A	PCCB	NM_000532.5(PCCB):c.1309G>A:p.Gly437Ser	coding	Pathogenic
3	136327970	C	T	C136327970T	PCCB	NM_000532.5(PCCB):c.1398+238C>T	noncoding	Benign
3	136328788	G	T	G136328788T	PCCB	NM_000532.5(PCCB):c.1429G>T:p.Glu477Ter	coding	Pathogenic/Likely_pathogenic
3	136329925	C	T	C136329925T	PCCB	NM_000532.5(PCCB):c.1519C>T:p.Gln507Ter	coding	Pathogenic
3	136329988	C	T	C136329988T	PCCB	NM_000532.5(PCCB):c.1582C>T:p.Gln528Ter	coding	Pathogenic
3	136343882	C	G	C136343882G	STAG1	NM_005862.3(STAG1):c.3396G>C:p.Gln1132His	coding	Benign
3	136349140	G	C	G136349140C	STAG1	NM_005862.3(STAG1):c.3271+18C>G	noncoding	Benign
3	136369196	G	A	G136369196A	STAG1	NM_005862.3(STAG1):c.2457C>T:p.Phe819=	coding	Benign
3	136421089	G	A	G136421089A	STAG1	NM_005862.3(STAG1):c.2108+4C>T	noncoding	Benign
3	136422869	A	G	A136422869G	STAG1	NM_005862.3(STAG1):c.1744-12T>C	noncoding	Benign
3	136452059	G	A	G136452059A	STAG1	NM_005862.3(STAG1):c.1402C>T:p.Leu468=	coding	Benign
3	136473546	C	T	C136473546T	STAG1	NM_005862.3(STAG1):c.1118G>A:p.Arg373Gln	coding	Pathogenic/Likely_pathogenic
3	136542121	C	T	C136542121T	STAG1	NM_005862.3(STAG1):c.469G>A:p.Glu157Lys	coding	Pathogenic
3	136568752	C	T	C136568752T	STAG1	NM_005862.3(STAG1):c.394+13G>A	noncoding	Benign
3	136568768	G	A	G136568768A	STAG1	NM_005862.3(STAG1):c.391C>T:p.Arg131Ter	coding	Pathogenic
3	138063081	A	C	A138063081C	DZIP1L	NM_173543.3(DZIP1L):c.2143-104T>G	noncoding	Benign
3	138064858	T	C	T138064858C	DZIP1L	NM_173543.3(DZIP1L):c.2003-91A>G	noncoding	Benign
3	138067600	T	C	T138067600C	DZIP1L	NM_173543.3(DZIP1L):c.1933A>G:p.Lys645Glu	coding	Benign
3	138067854	G	A	G138067854A	DZIP1L	NM_173543.3(DZIP1L):c.1833-154C>T	noncoding	Benign
3	138068199	C	T	C138068199T	DZIP1L	NM_173543.3(DZIP1L):c.1784G>A:p.Gly595Glu	coding	Benign
3	138068205	C	T	C138068205T	DZIP1L	NM_173543.3(DZIP1L):c.1778G>A:p.Arg593His	coding	Benign
3	138068331	G	A	G138068331A	DZIP1L	NM_173543.3(DZIP1L):c.1652C>T:p.Ala551Val	coding	Benign
3	138068350	T	C	T138068350C	DZIP1L	NM_173543.3(DZIP1L):c.1633A>G:p.Thr545Ala	coding	Benign
3	138068440	T	C	T138068440C	DZIP1L	NM_173543.3(DZIP1L):c.1616-73A>G	noncoding	Benign
3	138068513	T	C	T138068513C	DZIP1L	NM_173543.3(DZIP1L):c.1616-146A>G	noncoding	Benign
3	138071444	C	T	C138071444T	DZIP1L	NM_173543.3(DZIP1L):c.1615+199G>A	noncoding	Benign
3	138071774	C	T	C138071774T	DZIP1L	NM_173543.3(DZIP1L):c.1484G>A:p.Arg495Gln	coding	Benign
3	138072001	C	T	C138072001T	DZIP1L	NM_173543.3(DZIP1L):c.1423-166G>A	noncoding	Benign
3	138077481	G	A	G138077481A	DZIP1L	NM_173543.3(DZIP1L):c.1422+18C>T	noncoding	Benign
3	138077726	G	A	G138077726A	DZIP1L	NM_173543.3(DZIP1L):c.1289-94C>T	noncoding	Benign
3	138077865	C	T	C138077865T	DZIP1L	NM_173543.3(DZIP1L):c.1289-233G>A	noncoding	Benign
3	138080449	A	T	A138080449T	DZIP1L	NM_173543.3(DZIP1L):c.1288+118T>A	noncoding	Benign
3	138080578	G	A	G138080578A	DZIP1L	NM_173543.3(DZIP1L):c.1277C>T:p.Ser426Phe	coding	Benign
3	138080656	T	C	T138080656C	DZIP1L	NM_173543.3(DZIP1L):c.1235-36A>G	noncoding	Benign
3	138081814	A	G	A138081814G	DZIP1L	NM_173543.3(DZIP1L):c.1204-50T>C	noncoding	Benign
3	138088417	G	A	G138088417A	DZIP1L	NM_173543.3(DZIP1L):c.961C>T:p.Arg321Trp	coding	Benign
3	138092259	T	A	T138092259A	DZIP1L	NM_173543.3(DZIP1L):c.870+124A>T	noncoding	Benign
3	138092558	C	T	C138092558T	DZIP1L	NM_173543.3(DZIP1L):c.709-14G>A	noncoding	Benign
3	138097975	A	C	A138097975C	DZIP1L	NM_173543.3(DZIP1L):c.502-128T>G	noncoding	Benign
3	138098036	C	T	C138098036T	DZIP1L	NM_173543.3(DZIP1L):c.502-189G>A	noncoding	Benign
3	138372859	G	T	G138372859T	MRAS	NM_001085049.3(MRAS):c.-18-7G>T	noncoding	Benign
3	138372949	G	T	G138372949T	MRAS	NM_001085049.3(MRAS):c.66G>T:p.Gly22=	coding	Benign/Likely_benign
3	138373186	G	A	G138373186A	MRAS	NM_001085049.3(MRAS):c.193+110G>A	noncoding	Benign
3	138397333	C	T	C138397333T	MRAS	NM_001085049.3(MRAS):c.203C>T:p.Thr68Ile	coding	Pathogenic
3	138397460	C	T	C138397460T	MRAS	NM_001085049.3(MRAS):c.330C>T:p.Ile110=	coding	Benign/Likely_benign
3	138398307	C	G	C138398307G	MRAS	NM_001085049.3(MRAS):c.348-162C>G	noncoding	Benign
3	138398490	C	T	C138398490T	MRAS	NM_001085049.3(MRAS):c.369C>T:p.Leu123=	coding	Benign/Likely_benign
3	138398722	A	G	A138398722G	MRAS	NM_001085049.3(MRAS):c.447+154A>G	noncoding	Benign
3	138400611	T	C	T138400611C	MRAS	NM_001085049.3(MRAS):c.525T>C:p.Ile175_Arg176=	coding	Benign
3	138402277	G	C	G138402277C	MRAS	NM_001085049.3(MRAS):c.*8G>C	noncoding	Benign
3	138402280	G	T	G138402280T	MRAS	NM_001085049.3(MRAS):c.*11G>T	noncoding	Benign
3	138402356	C	T	C138402356T	MRAS	NM_001085049.3(MRAS):c.*87C>T	noncoding	Benign
3	138403280	C	T	C138403280T	MRAS	NM_001085049.3(MRAS):c.*1011C>T	noncoding	Benign
3	138944973	G	T	G138944973T	FOXL2	NM_023067.4(FOXL2):c.*619C>A	noncoding	Benign
3	138946109	G	C	G138946109C	FOXL2	NM_023067.4(FOXL2):c.614C>G:p.Pro205Arg	coding	Benign
3	138946383	T	A	T138946383A	FOXL2	NM_023067.4(FOXL2):c.340A>T:p.Lys114Ter	coding	Pathogenic
3	139347146	C	T	C139347146T	MRPS22	NM_020191.4(MRPS22):c.339+102C>T	noncoding	Benign
3	139347219	A	G	A139347219G	MRPS22	NM_020191.4(MRPS22):c.339+175A>G	noncoding	Benign
3	139348060	A	T	A139348060T	MRPS22	NM_020191.4(MRPS22):c.340-100A>T	noncoding	Benign
3	139350675	C	A	C139350675A	MRPS22	NM_020191.4(MRPS22):c.649-302C>A	noncoding	Benign
3	139350728	G	A	G139350728A	MRPS22	NM_020191.4(MRPS22):c.649-249G>A	noncoding	Benign
3	139355444	T	C	T139355444C	MRPS22	NM_020191.4(MRPS22):c.879-238T>C	noncoding	Benign
3	139355957	T	C	T139355957C	MRPS22	NM_020191.4(MRPS22):c.987+167T>C	noncoding	Benign
3	139355995	T	G	T139355995G	MRPS22	NM_020191.4(MRPS22):c.987+205T>G	noncoding	Benign
3	139356802	C	A	C139356802A	MRPS22	NM_020191.4(MRPS22):c.988-117C>A	noncoding	Benign
3	139357096	C	T	C139357096T	MRPS22	NM_020191.4(MRPS22):c.*82C>T	noncoding	Benign
3	139357107	A	G	A139357107G	MRPS22	NM_020191.4(MRPS22):c.*93A>G	noncoding	Benign
3	139357161	C	T	C139357161T	MRPS22	Single_allele	noncoding	Benign
3	139357978	G	T	G139357978T	COPB2	NM_004766.3(COPB2):c.2626-20C>A	noncoding	Benign
3	139358239	C	T	C139358239T	COPB2	NM_004766.3(COPB2):c.2586G>A:p.Pro862=	coding	Benign
3	139368152	G	C	G139368152C	COPB2	NM_004766.3(COPB2):c.1538C>G:p.Ala513Gly	coding	Benign
3	139369546	T	C	T139369546C	COPB2	NM_004766.3(COPB2):c.1206-2A>G	noncoding	Pathogenic
3	139371856	A	G	A139371856G	COPB2	NM_004766.3(COPB2):c.1095-23T>C	noncoding	Benign
3	139379060	A	G	A139379060G	COPB2	NM_004766.3(COPB2):c.342T>C:p.Ile114=	coding	Benign
3	139383278	C	A	C139383278A	COPB2	NM_004766.3(COPB2):c.141+20G>T	noncoding	Benign
3	139389533	G	C	G139389533C	COPB2	NM_004766.3(COPB2):c.3+15C>G	coding	Benign
3	139389541	G	A	G139389541A	COPB2	NM_004766.3(COPB2):c.3+7C>T	coding	Benign
3	139518505	G	A	G139518505A	RBP1	NM_002899.5(RBP1):c.456C>T:p.Asp152=	coding	Benign
3	139538761	A	G	A139538761G	RBP1	NM_002899.5(RBP1):c.438+20T>C	noncoding	Benign
3	139539527	T	C	T139539527C	RBP1	NM_002899.5(RBP1):c.192A>G:p.Pro64=	coding	Benign
3	139539569	G	A	G139539569A	RBP1	NM_002899.5(RBP1):c.150C>T:p.Arg50=	coding	Benign
3	139539666	G	A	G139539666A	RBP1	NM_002899.5(RBP1):c.53C>T:p.Pro18Leu	coding	Benign
3	141529673	A	G	A141529673G	RASA2	NM_006506.5(RASA2):c.356-35A>G	noncoding	Benign
3	141540809	A	C	A141540809C	RASA2	NM_006506.5(RASA2):c.527+200A>C	noncoding	Benign
3	141553869	C	T	C141553869T	RASA2	NM_006506.5(RASA2):c.540C>T:p.Cys180=	coding	Benign/Likely_benign
3	141554197	G	T	G141554197T	RASA2	NM_006506.5(RASA2):c.611+257G>T	noncoding	Benign
3	141558809	T	G	T141558809G	RASA2	NM_006506.5(RASA2):c.685-77T>G	noncoding	Benign
3	141558918	C	T	C141558918T	RASA2	NM_006506.5(RASA2):c.717C>T:p.Ser239=	coding	Benign/Likely_benign
3	141572574	T	C	T141572574C	RASA2	NM_006506.5(RASA2):c.1170-35T>C	noncoding	Benign
3	141573776	G	A	G141573776A	RASA2	NM_006506.5(RASA2):c.1360-168G>A	noncoding	Benign
3	141576936	T	A	T141576936A	RASA2	NM_006506.5(RASA2):c.1484-64T>A	noncoding	Benign
3	141586130	A	G	A141586130G	RASA2	NM_006506.5(RASA2):c.1826+32A>G	noncoding	Benign
3	141586607	A	G	A141586607G	RASA2	NM_006506.5(RASA2):c.1827-39A>G	noncoding	Benign
3	141586785	T	C	T141586785C	RASA2	NM_006506.5(RASA2):c.1933+33T>C	noncoding	Benign
3	141586873	A	G	A141586873G	RASA2	NM_006506.5(RASA2):c.1933+121A>G	noncoding	Benign
3	141587012	C	G	C141587012G	RASA2	NM_006506.5(RASA2):c.1933+260C>G	noncoding	Benign
3	141607686	G	A	G141607686A	RASA2	NM_006506.5(RASA2):c.1942G>A:p.Ala648Thr	coding	Benign/Likely_benign
3	141607917	T	C	T141607917C	RASA2	NM_006506.5(RASA2):c.2016+157T>C	noncoding	Benign
3	141607957	T	G	T141607957G	RASA2	NM_006506.5(RASA2):c.2016+197T>G	noncoding	Benign
3	141608632	G	A	G141608632A	RASA2	NM_006506.5(RASA2):c.2160G>A:p.Leu720=	coding	Benign
3	141608751	C	T	C141608751T	RASA2	NM_006506.5(RASA2):c.2225+54C>T	noncoding	Benign
3	141608862	C	T	C141608862T	RASA2	NM_006506.5(RASA2):c.2225+165C>T	noncoding	Benign
3	141609388	A	G	A141609388G	RASA2	NM_006506.5(RASA2):c.2226-32A>G	noncoding	Benign
3	141609947	C	T	C141609947T	RASA2	NM_006506.5(RASA2):c.2400C>T:p.Ile800=	coding	Benign/Likely_benign
3	141610040	A	G	A141610040G	RASA2	NM_006506.5(RASA2):c.2493A>G:p.Arg831=	coding	Benign/Likely_benign
3	141612380	G	A	G141612380A	RASA2	NM_006506.5(RASA2):c.*67G>A	noncoding	Benign
3	142449134	A	G	A142449134G	ATR	Single_allele	noncoding	Benign
3	142453568	C	T	C142453568T	ATR	NM_001184.4(ATR):c.7656-335G>A	noncoding	Benign
3	142457771	T	C	T142457771C	ATR	NM_001184.4(ATR):c.7504-16A>G	noncoding	Benign/Likely_benign
3	142457772	T	A	T142457772A	ATR	NM_001184.4(ATR):c.7504-17A>T	noncoding	Benign
3	142469495	A	C	A142469495C	ATR	NM_001184.4(ATR):c.6394T>G:p.Tyr2132Asp	coding	Benign/Likely_benign
3	142493188	G	A	G142493188A	ATR	NM_001184.4(ATR):c.6022C>T:p.Arg2008Ter	coding	Pathogenic
3	142496171	G	C	G142496171C	ATR	NM_001184.4(ATR):c.5898+190C>G	noncoding	Benign
3	142496279	T	A	T142496279A	ATR	NM_001184.4(ATR):c.5898+82A>T	noncoding	Benign
3	142496280	A	T	A142496280T	ATR	NM_001184.4(ATR):c.5898+81T>A	noncoding	Benign
3	142496291	T	C	T142496291C	ATR	NM_001184.4(ATR):c.5898+70A>G	noncoding	Benign
3	142496293	T	C	T142496293C	ATR	NM_001184.4(ATR):c.5898+68A>G	noncoding	Benign
3	142496303	T	C	T142496303C	ATR	NM_001184.4(ATR):c.5898+58A>G	noncoding	Benign
3	142496305	T	C	T142496305C	ATR	NM_001184.4(ATR):c.5898+56A>G	noncoding	Benign
3	142496307	T	C	T142496307C	ATR	NM_001184.4(ATR):c.5898+54A>G	noncoding	Benign
3	142496336	A	C	A142496336C	ATR	NM_001184.4(ATR):c.5898+25T>G	noncoding	Benign
3	142496408	G	A	G142496408A	ATR	NM_001184.4(ATR):c.5851C>T:p.Arg1951Ter	coding	Pathogenic
3	142497095	G	A	G142497095A	ATR	NM_001184.4(ATR):c.5656C>T:p.Arg1886Ter	coding	Pathogenic
3	142512239	G	A	G142512239A	ATR	NM_001184.4(ATR):c.4852+21C>T	noncoding	Benign
3	142515562	T	C	T142515562C	ATR	NM_001184.4(ATR):c.4383-47A>G	noncoding	Benign
3	142522794	T	A	T142522794A	ATR	NM_001184.4(ATR):c.4200A>T:p.Leu1400=	coding	Benign/Likely_benign
3	142524147	G	C	G142524147C	ATR	NM_001184.4(ATR):c.3998C>G:p.Ser1333Ter	coding	Pathogenic
3	142524476	T	A	T142524476A	ATR	NM_001184.4(ATR):c.3946-277A>T	noncoding	Benign
3	142535169	G	A	G142535169A	ATR	NM_001184.4(ATR):c.3856C>T:p.Gln1286Ter	coding	Pathogenic
3	142538464	T	C	T142538464C	ATR	NM_001184.4(ATR):c.3725+18A>G	noncoding	Benign
3	142542497	G	A	G142542497A	ATR	NM_001184.4(ATR):c.3450+168C>T	noncoding	Benign
3	142542653	A	G	A142542653G	ATR	NM_001184.4(ATR):c.3450+12T>C	noncoding	Benign
3	142547597	C	T	C142547597T	ATR	NM_001184.4(ATR):c.3357+128G>A	noncoding	Benign
3	142547925	T	A	T142547925A	ATR	NM_001184.4(ATR):c.3172-15A>T	noncoding	Benign
3	142547936	A	T	A142547936T	ATR	NM_001184.4(ATR):c.3172-26T>A	noncoding	Benign
3	142550257	T	G	T142550257G	ATR	NM_001184.4(ATR):c.2851A>C:p.Asn951His	coding	Benign
3	142553395	G	A	G142553395A	ATR	NM_001184.4(ATR):c.2637C>T:p.Ala879=	coding	Benign/Likely_benign
3	142554066	T	C	T142554066C	ATR	NM_001184.4(ATR):c.2342-51A>G	noncoding	Benign
3	142555566	C	T	C142555566T	ATR	NM_001184.4(ATR):c.2341+311G>A	noncoding	Benign
3	142558585	A	G	A142558585G	ATR	NM_001184.4(ATR):c.1885+39T>C	noncoding	Benign
3	142561479	T	G	T142561479G	ATR	NM_001184.4(ATR):c.1171-58A>C	noncoding	Benign
3	142562873	G	A	G142562873A	ATR	NM_001184.4(ATR):c.529C>T:p.Arg177Ter	coding	Pathogenic
3	142563010	A	T	A142563010T	ATR	NM_001184.4(ATR):c.392T>A:p.Leu131Ter	coding	Pathogenic
3	142664153	A	T	A142664153T	PLS1	NM_001145319.2(PLS1):c.-36-49A>T	noncoding	Benign
3	142664448	G	T	G142664448T	PLS1	NM_001145319.2(PLS1):c.70+141G>T	noncoding	Benign
3	142664476	G	A	G142664476A	PLS1	NM_001145319.2(PLS1):c.70+169G>A	noncoding	Benign
3	142670783	A	G	A142670783G	PLS1	NM_001145319.2(PLS1):c.235-210A>G	noncoding	Benign
3	142670827	G	T	G142670827T	PLS1	NM_001145319.2(PLS1):c.235-166G>T	noncoding	Benign
3	142671067	T	G	T142671067G	PLS1	NM_001145319.2(PLS1):c.309T>G:p.Thr103=	coding	Benign
3	142671159	G	T	G142671159T	PLS1	NM_001145319.2(PLS1):c.364+37G>T	noncoding	Benign
3	142671296	C	A	C142671296A	PLS1	NM_001145319.2(PLS1):c.364+174C>A	noncoding	Benign
3	142676111	A	G	A142676111G	PLS1	NM_001145319.2(PLS1):c.365-46A>G	noncoding	Benign
3	142676230	A	G	A142676230G	PLS1	NM_001145319.2(PLS1):c.438A>G:p.Ile146Met	coding	Benign
3	142684073	C	T	C142684073T	PLS1	NM_001145319.2(PLS1):c.647C>T:p.Ser216Leu	coding	Benign
3	142684573	A	T	A142684573T	PLS1	NM_001145319.2(PLS1):c.888+178A>T	noncoding	Benign
3	142686225	C	T	C142686225T	PLS1	NM_001145319.2(PLS1):c.889-59C>T	noncoding	Benign
3	142686506	T	C	T142686506C	PLS1	NM_001145319.2(PLS1):c.981+130T>C	noncoding	Benign
3	142689764	G	A	G142689764A	PLS1	NM_001145319.2(PLS1):c.1128G>A:p.Pro376=	coding	Benign
3	142694565	C	T	C142694565T	PLS1	NM_001145319.2(PLS1):c.1256+18C>T	noncoding	Benign
3	142698228	G	A	G142698228A	PLS1	NM_001145319.2(PLS1):c.1371+161G>A	noncoding	Benign
3	142711329	A	G	A142711329G	PLS1	NM_001145319.2(PLS1):c.1630-172A>G	noncoding	Benign
3	142712158	G	C	G142712158C	PLS1	NM_001145319.2(PLS1):c.*151G>C	noncoding	Benign
3	146071258	G	C	G146071258C	PLOD2	NM_182943.3(PLOD2):c.1995+19C>G	noncoding	Benign
3	146072259	C	T	C146072259T	PLOD2	NM_182943.3(PLOD2):c.1848+302G>A	noncoding	Benign
3	146072505	A	G	A146072505G	PLOD2	NM_182943.3(PLOD2):c.1848+56T>C	noncoding	Benign
3	146072645	C	A	C146072645A	PLOD2	NM_182943.3(PLOD2):c.1764G>T:p.Trp588Cys	coding	Pathogenic
3	146073016	G	T	G146073016T	PLOD2	NM_182943.3(PLOD2):c.1743+271C>A	noncoding	Benign
3	146073161	A	G	A146073161G	PLOD2	NM_182943.3(PLOD2):c.1743+126T>C	noncoding	Benign
3	146073501	C	T	C146073501T	PLOD2	NM_182943.3(PLOD2):c.1678-149G>A	noncoding	Benign
3	146077799	T	G	T146077799G	PLOD2	NM_182943.3(PLOD2):c.1563+63A>C	noncoding	Benign
3	146081568	G	A	G146081568A	PLOD2	NM_182943.3(PLOD2):c.1358+170C>T	noncoding	Benign
3	146081809	C	T	C146081809T	PLOD2	NM_182943.3(PLOD2):c.1287G>A:p.Trp429Ter	coding	Pathogenic
3	146081821	C	T	C146081821T	PLOD2	NM_182943.3(PLOD2):c.1275G>A:p.Trp425Ter	coding	Pathogenic
3	146082133	G	A	G146082133A	PLOD2	NM_182943.3(PLOD2):c.1233-270C>T	noncoding	Benign
3	146085345	A	G	A146085345G	PLOD2	NM_182943.3(PLOD2):c.1128-72T>C	noncoding	Benign
3	146085476	G	A	G146085476A	PLOD2	NM_182943.3(PLOD2):c.1128-203C>T	noncoding	Benign
3	146086548	C	T	C146086548T	PLOD2	NM_182943.3(PLOD2):c.1127+239G>A	noncoding	Benign
3	146086628	C	T	C146086628T	PLOD2	NM_182943.3(PLOD2):c.1127+159G>A	noncoding	Benign
3	146088840	G	T	G146088840T	PLOD2	NM_182943.3(PLOD2):c.880-129C>A	noncoding	Benign
3	146088888	C	T	C146088888T	PLOD2	NM_182943.3(PLOD2):c.880-177G>A	noncoding	Benign
3	146102897	G	A	G146102897A	PLOD2	NM_182943.3(PLOD2):c.680-45C>T	noncoding	Benign
3	146102914	C	T	C146102914T	PLOD2	NM_182943.3(PLOD2):c.680-62G>A	noncoding	Benign
3	146102919	G	A	G146102919A	PLOD2	NM_182943.3(PLOD2):c.680-67C>T	noncoding	Benign
3	146104306	T	C	T146104306C	PLOD2	NM_182943.3(PLOD2):c.652A>G:p.Ile218Val	coding	Benign/Likely_benign
3	146104310	G	T	G146104310T	PLOD2	NM_182943.3(PLOD2):c.648C>A:p.Cys216Ter	coding	Pathogenic
3	146106251	T	C	T146106251C	PLOD2	NM_182943.3(PLOD2):c.615+281A>G	noncoding	Benign
3	146106255	G	A	G146106255A	PLOD2	NM_182943.3(PLOD2):c.615+277C>T	noncoding	Benign
3	146106326	T	C	T146106326C	PLOD2	NM_182943.3(PLOD2):c.615+206A>G	noncoding	Benign
3	146110152	G	C	G146110152C	PLOD2	NM_182943.3(PLOD2):c.502+133C>G	noncoding	Benign
3	146110709	G	T	G146110709T	PLOD2	NM_182943.3(PLOD2):c.339-261C>A	noncoding	Benign
3	146124399	T	C	T146124399C	PLOD2	NM_182943.3(PLOD2):c.110-170A>G	noncoding	Benign
3	146160566	G	A	G146160566A	PLOD2	NM_182943.3(PLOD2):c.109+315C>T	noncoding	Benign
3	146160804	G	A	G146160804A	PLOD2	NM_182943.3(PLOD2):c.109+77C>T	noncoding	Benign
3	147409984	C	T	C147409984T	ZIC1	NM_003412.4(ZIC1):c.-129C>T	noncoding	Benign
3	147410631	G	A	G147410631A	ZIC1	NM_003412.4(ZIC1):c.519G>A:p.Pro173=	coding	Benign
3	147410688	G	A	G147410688A	ZIC1	NM_003412.4(ZIC1):c.576G>A:p.Pro192=	coding	Benign
3	147412498	T	C	T147412498C	ZIC1	NM_003412.4(ZIC1):c.983-20T>C	noncoding	Benign
3	147413479	C	T	C147413479T	ZIC1	NM_003412.4(ZIC1):c.1272C>T:p.Pro424=	coding	Benign
3	147413715	G	A	G147413715A	ZIC1	NM_003412.4(ZIC1):c.*164G>A	noncoding	Benign
3	148729969	G	A	G148729969A	AGTR1	NM_000685.5(AGTR1):c.-47-11020G>A	noncoding	Benign
3	148739686	T	C	T148739686C	AGTR1	NM_000685.5(AGTR1):c.-47-1303T>C	noncoding	Benign
3	148739855	T	C	T148739855C	AGTR1	NM_000685.5(AGTR1):c.-47-1134T>C	coding	Benign
3	148740058	T	C	T148740058C	AGTR1	NM_000685.5(AGTR1):c.-47-931T>C	noncoding	Benign
3	148740123	T	C	T148740123C	AGTR1	NM_000685.5(AGTR1):c.-47-866T>C	noncoding	Benign
3	148740676	T	A	T148740676A	AGTR1	NM_000685.5(AGTR1):c.-47-313T>A	noncoding	Benign
3	148741454	G	A	G148741454A	AGTR1	NM_000685.5(AGTR1):c.419G>A:p.Arg140His	coding	Pathogenic
3	148991343	C	T	C148991343T	GYG1	Single_allele	noncoding	Benign
3	148991372	G	C	G148991372C	GYG1	Single_allele	noncoding	Benign
3	148991537	G	A	G148991537A	GYG1	Single_allele	noncoding	Benign
3	148994194	G	A	G148994194A	GYG1	NM_004130.4(GYG1):c.60G>A:p.Leu20=	coding	Benign/Likely_benign
3	148994468	A	G	A148994468G	GYG1	NM_004130.4(GYG1):c.143+191A>G	noncoding	Benign
3	148996238	C	G	C148996238G	GYG1	NM_004130.4(GYG1):c.144-64C>G	noncoding	Benign
3	148997100	A	G	A148997100G	GYG1	NM_004130.4(GYG1):c.481+196A>G	noncoding	Benign
3	148997107	T	C	T148997107C	GYG1	NM_004130.4(GYG1):c.481+203T>C	noncoding	Benign
3	149000300	G	T	G149000300T	GYG1	NM_004130.4(GYG1):c.481+3396G>T	noncoding	Benign
3	149009293	C	T	C149009293T	GYG1	NM_004130.4(GYG1):c.499C>T:p.Leu167=	coding	Benign
3	149009416	G	C	G149009416C	GYG1	NM_004130.4(GYG1):c.608+14G>C	noncoding	Benign/Likely_benign
3	149024157	C	G	C149024157G	GYG1	NM_004130.4(GYG1):c.713C>G:p.Pro238Arg	coding	Pathogenic
3	149026439	G	A	G149026439A	GYG1	NM_004130.4(GYG1):c.829-13G>A	noncoding	Benign
3	149085892	A	G	A149085892G	HLTF	NM_003071.4(HLTF):c.20+425T>C	noncoding	Benign
3	149129436	G	A	G149129436A	HPS3	Single_allele	noncoding	Benign
3	149129521	G	C	G149129521C	HPS3	Single_allele	noncoding	Benign
3	149129758	C	A	C149129758A	HPS3	NM_032383.5(HPS3):c.35C>A:p.Ser12Ter	coding	Pathogenic
3	149129959	C	G	C149129959G	HPS3	NM_032383.5(HPS3):c.217+19C>G	noncoding	Benign
3	149130072	C	T	C149130072T	HPS3	NM_032383.5(HPS3):c.217+132C>T	noncoding	Benign
3	149130147	G	T	G149130147T	HPS3	NM_032383.5(HPS3):c.217+207G>T	noncoding	Benign
3	149130180	C	A	C149130180A	HPS3	NM_032383.5(HPS3):c.217+240C>A	noncoding	Benign
3	149139903	C	T	C149139903T	HPS3	NM_032383.5(HPS3):c.218-101C>T	noncoding	Benign
3	149139927	A	C	A149139927C	HPS3	NM_032383.5(HPS3):c.218-77A>C	noncoding	Benign
3	149140222	G	T	G149140222T	HPS3	NM_032383.5(HPS3):c.436G>T:p.Gly146Ter	coding	Pathogenic
3	149140500	T	A	T149140500A	HPS3	NM_032383.5(HPS3):c.712+2T>A	noncoding	Pathogenic
3	149140775	A	C	A149140775C	HPS3	NM_032383.5(HPS3):c.713-242A>C	noncoding	Benign
3	149145069	C	A	C149145069A	HPS3	NM_032383.5(HPS3):c.971-285C>A	noncoding	Benign
3	149145311	T	C	T149145311C	HPS3	NM_032383.5(HPS3):c.971-43T>C	noncoding	Benign
3	149145386	C	T	C149145386T	HPS3	NM_032383.5(HPS3):c.1003C>T:p.Gln335Ter	coding	Pathogenic
3	149145608	T	G	T149145608G	HPS3	NM_032383.5(HPS3):c.1163+62T>G	noncoding	Benign
3	149145797	A	G	A149145797G	HPS3	NM_032383.5(HPS3):c.1163+251A>G	noncoding	Benign
3	149145804	A	C	A149145804C	HPS3	NM_032383.5(HPS3):c.1163+258A>C	noncoding	Benign
3	149150374	C	G	C149150374G	HPS3	NM_032383.5(HPS3):c.1164-225C>G	noncoding	Benign
3	149150407	A	G	A149150407G	HPS3	NM_032383.5(HPS3):c.1164-192A>G	noncoding	Benign
3	149150460	A	C	A149150460C	HPS3	NM_032383.5(HPS3):c.1164-139A>C	noncoding	Benign
3	149150624	C	T	C149150624T	HPS3	NM_032383.5(HPS3):c.1189C>T:p.Arg397Trp	coding	Pathogenic
3	149150739	C	G	C149150739G	HPS3	NM_032383.5(HPS3):c.1245+59C>G	noncoding	Benign
3	149150911	C	G	C149150911G	HPS3	NM_032383.5(HPS3):c.1245+231C>G	noncoding	Benign
3	149153279	A	G	A149153279G	HPS3	NM_032383.5(HPS3):c.1246-215A>G	noncoding	Benign
3	149153337	C	T	C149153337T	HPS3	NM_032383.5(HPS3):c.1246-157C>T	noncoding	Benign
3	149153689	G	A	G149153689A	HPS3	NM_032383.5(HPS3):c.1400+41G>A	noncoding	Benign
3	149153745	A	G	A149153745G	HPS3	NM_032383.5(HPS3):c.1400+97A>G	noncoding	Benign
3	149153892	T	C	T149153892C	HPS3	NM_032383.5(HPS3):c.1400+244T>C	noncoding	Benign
3	149155206	C	G	C149155206G	HPS3	NM_032383.5(HPS3):c.1500C>G:p.Tyr500Ter	coding	Pathogenic
3	149157526	C	A	C149157526A	HPS3	NM_032383.5(HPS3):c.1686C>A:p.Tyr562Ter	coding	Pathogenic
3	149157526	C	G	C149157526G	HPS3	NM_032383.5(HPS3):c.1686C>G:p.Tyr562Ter	coding	Pathogenic
3	149158474	T	G	T149158474G	HPS3	NM_032383.5(HPS3):c.1692-192T>G	noncoding	Benign
3	149158752	G	A	G149158752A	HPS3	NM_032383.5(HPS3):c.1778G>A:p.Trp593Ter	coding	Pathogenic
3	149159893	T	C	T149159893C	HPS3	NM_032383.5(HPS3):c.1873-153T>C	noncoding	Benign
3	149160456	A	G	A149160456G	HPS3	NM_032383.5(HPS3):c.2106+177A>G	noncoding	Benign
3	149161972	A	G	A149161972G	HPS3	NM_032383.5(HPS3):c.2107-176A>G	noncoding	Benign
3	149162091	A	G	A149162091G	HPS3	NM_032383.5(HPS3):c.2107-57A>G	noncoding	Benign
3	149162096	A	G	A149162096G	HPS3	NM_032383.5(HPS3):c.2107-52A>G	noncoding	Benign
3	149162208	C	T	C149162208T	HPS3	NM_032383.5(HPS3):c.2167C>T:p.Gln723Ter	coding	Pathogenic
3	149162396	C	A	C149162396A	HPS3	NM_032383.5(HPS3):c.2292+63C>A	noncoding	Benign
3	149163813	T	G	T149163813G	HPS3	NM_032383.5(HPS3):c.2482-29T>G	noncoding	Benign
3	149163824	A	C	A149163824C	HPS3	NM_032383.5(HPS3):c.2482-18A>C	noncoding	Benign
3	149163947	C	T	C149163947T	HPS3	NM_032383.5(HPS3):c.2587C>T:p.Gln863Ter	coding	Pathogenic
3	149163951	T	C	T149163951C	HPS3	NM_032383.5(HPS3):c.2589+2T>C	noncoding	Pathogenic/Likely_pathogenic
3	149167053	C	A	C149167053A	HPS3	NM_032383.5(HPS3):c.2609C>A:p.Ser870Ter	coding	Pathogenic
3	149167279	G	A	G149167279A	HPS3	NM_032383.5(HPS3):c.2796+39G>A	noncoding	Benign
3	149168064	G	A	G149168064A	HPS3	NM_032383.5(HPS3):c.2887+81G>A	noncoding	Benign
3	149170217	T	G	T149170217G	HPS3	NM_032383.5(HPS3):c.2888-1878T>G	noncoding	Benign
3	149171854	G	A	G149171854A	HPS3	NM_032383.5(HPS3):c.2888-241G>A	noncoding	Benign
3	149172040	A	T	A149172040T	HPS3	NM_032383.5(HPS3):c.2888-55A>T	noncoding	Benign
3	149173862	A	G	A149173862G	CP	NM_000096.4(CP):c.3182-132T>C	noncoding	Benign
3	149176570	T	G	T149176570G	CP	NM_000096.4(CP):c.3019-158A>C	noncoding	Benign
3	149177744	G	C	G149177744C	CP	NM_000096.4(CP):c.3018+96C>G	noncoding	Benign
3	149177981	T	C	T149177981C	CP	NM_000096.4(CP):c.2879-2A>G	noncoding	Pathogenic
3	149178218	G	A	G149178218A	CP	NM_000096.4(CP):c.2878+197C>T	noncoding	Benign
3	149178318	T	C	T149178318C	CP	NM_000096.4(CP):c.2878+97A>G	noncoding	Benign
3	149178401	A	G	A149178401G	CP	NM_000096.4(CP):c.2878+14T>C	noncoding	Benign
3	149178537	A	G	A149178537G	CP	NM_000096.4(CP):c.2756T>C:p.Leu919Pro	coding	Pathogenic/Likely_pathogenic
3	149179423	A	C	A149179423C	CP	NM_000096.4(CP):c.2661+133T>G	noncoding	Benign
3	149181675	A	G	A149181675G	CP	NM_000096.4(CP):c.2554+330T>C	noncoding	Benign
3	149181675	A	T	A149181675T	CP	NM_000096.4(CP):c.2554+330T>A	noncoding	Benign
3	149181783	T	C	T149181783C	CP	NM_000096.4(CP):c.2554+222A>G	noncoding	Benign
3	149181909	C	T	C149181909T	CP	NM_000096.4(CP):c.2554+96G>A	noncoding	Benign
3	149181987	C	T	C149181987T	CP	NM_000096.4(CP):c.2554+18G>A	noncoding	Benign
3	149182037	G	C	G149182037C	CP	NM_000096.4(CP):c.2522C>G:p.Thr841Arg	coding	Benign/Likely_benign
3	149182259	C	T	C149182259T	CP	NM_000096.4(CP):c.2426-126G>A	noncoding	Benign
3	149182381	T	C	T149182381C	CP	NM_000096.4(CP):c.2426-248A>G	noncoding	Benign
3	149182422	T	C	T149182422C	CP	NM_000096.4(CP):c.2426-289A>G	noncoding	Benign
3	149183207	C	A	C149183207A	CP	NM_000096.4(CP):c.2425+259G>T	noncoding	Benign
3	149183243	G	A	G149183243A	CP	NM_000096.4(CP):c.2425+223C>T	noncoding	Benign
3	149183569	G	T	G149183569T	CP	NM_000096.4(CP):c.2322C>A:p.Tyr774Ter	coding	Pathogenic
3	149183753	C	A	C149183753A	CP	NM_000096.4(CP):c.2286-148G>T	noncoding	Benign
3	149185068	G	A	G149185068A	CP	NM_000096.4(CP):c.2285+171C>T	noncoding	Benign
3	149185163	T	C	T149185163C	CP	NM_000096.4(CP):c.2285+76A>G	noncoding	Benign
3	149185593	C	G	C149185593G	CP	NM_000096.4(CP):c.2078-147G>C	noncoding	Benign
3	149185638	A	C	A149185638C	CP	NM_000096.4(CP):c.2078-192T>G	noncoding	Benign
3	149185646	C	T	C149185646T	CP	NM_000096.4(CP):c.2078-200G>A	noncoding	Benign
3	149185709	G	A	G149185709A	CP	NM_000096.4(CP):c.2078-263C>T	noncoding	Benign
3	149187939	G	A	G149187939A	CP	NM_000096.4(CP):c.1864+113C>T	noncoding	Benign
3	149187990	A	G	A149187990G	CP	NM_000096.4(CP):c.1864+62T>C	noncoding	Benign
3	149188240	A	G	A149188240G	CP	NM_000096.4(CP):c.1714-38T>C	noncoding	Benign
3	149188491	A	C	A149188491C	CP	NM_000096.4(CP):c.1714-289T>G	noncoding	Benign
3	149202256	A	T	A149202256T	CP	NM_000096.4(CP):c.1209-15T>A	noncoding	Benign/Likely_benign
3	149205869	G	A	G149205869A	CP	NM_000096.4(CP):c.1208+299C>T	noncoding	Benign
3	149206227	C	T	C149206227T	CP	NM_000096.4(CP):c.1149G>A:p.Trp383Ter	coding	Pathogenic
3	149206338	G	A	G149206338A	CP	NM_000096.4(CP):c.1038C>T:p.Ala346=	coding	Benign
3	149206443	T	C	T149206443C	CP	NM_000096.4(CP):c.1037-104A>G	noncoding	Benign
3	149207047	T	C	T149207047C	CP	NM_000096.4(CP):c.1036+316A>G	noncoding	Benign
3	149207738	T	C	T149207738C	CP	NM_000096.4(CP):c.782-121A>G	noncoding	Benign
3	149207779	G	A	G149207779A	CP	NM_000096.4(CP):c.782-162C>T	noncoding	Benign
3	149209924	A	T	A149209924T	CP	NM_000096.4(CP):c.607+243T>A	noncoding	Benign
3	149209937	A	T	A149209937T	CP	NM_000096.4(CP):c.607+230T>A	noncoding	Benign
3	149210028	C	T	C149210028T	CP	NM_000096.4(CP):c.607+139G>A	noncoding	Benign
3	149210038	T	C	T149210038C	CP	NM_000096.4(CP):c.607+129A>G	noncoding	Benign
3	149210506	T	A	T149210506A	CP	NM_000096.4(CP):c.395-127A>T	noncoding	Benign
3	149212431	G	A	G149212431A	CP	NM_000096.4(CP):c.394+20C>T	noncoding	Benign
3	149212432	C	T	C149212432T	CP	NM_000096.4(CP):c.394+19G>A	noncoding	Benign
3	149221350	G	T	G149221350T	CP	NM_000096.4(CP):c.146+297C>A	noncoding	Benign
3	149221390	G	A	G149221390A	CP	NM_000096.4(CP):c.146+257C>T	noncoding	Benign
3	149221606	C	T	C149221606T	CP	NM_000096.4(CP):c.146+41G>A	noncoding	Benign
3	149222074	T	C	T149222074C	CP	Single_allele	noncoding	Benign
3	149222142	G	A	G149222142A	CP	Single_allele	noncoding	Benign
3	149222146	A	G	A149222146G	CP	Single_allele	noncoding	Benign
3	149222231	A	G	A149222231G	CP	Single_allele	noncoding	Benign
3	149902154	T	C	T149902154C	RNF13	NM_183381.3(RNF13):c.492T>C:p.Tyr164=	coding	Benign
3	149912091	C	T	C149912091T	RNF13	NM_183381.3(RNF13):c.606+8C>T	noncoding	Benign
3	149912097	C	T	C149912097T	RNF13	NM_183381.3(RNF13):c.606+14C>T	noncoding	Benign
3	149921220	C	T	C149921220T	RNF13	NM_183381.3(RNF13):c.693C>T:p.Phe231=	coding	Benign
3	149960723	A	G	A149960723G	RNF13	NM_183381.3(RNF13):c.782-17A>G	noncoding	Benign
3	149960747	C	T	C149960747T	RNF13	NM_183381.3(RNF13):c.789C>T:p.His263=	coding	Benign
3	149960976	G	A	G149960976A	RNF13	NM_183381.3(RNF13):c.1018G>A:p.Asp340Asn	coding	Benign
3	149961047	C	T	C149961047T	RNF13	NM_183381.3(RNF13):c.1089C>T:p.Val363=	coding	Benign
3	150928072	G	T	G150928072T	CLRN1	NM_174878.3(CLRN1):c.563C>A:p.Ser188Ter	coding	Pathogenic
3	150928122	A	T	A150928122T	CLRN1	NM_174878.3(CLRN1):c.513T>A:p.Tyr171Ter	coding	Pathogenic
3	150928525	T	C	T150928525C	CLRN1	NM_174878.3(CLRN1):c.434-324A>G	noncoding	Benign
3	150940817	A	C	A150940817C	CLRN1	NM_174878.3(CLRN1):c.433+765T>G	noncoding	Benign
3	150972231	T	C	T150972231C	CLRN1	NM_174878.3(CLRN1):c.253+225A>G	noncoding	Benign
3	150972417	C	A	C150972417A	CLRN1	NM_174878.3(CLRN1):c.253+39G>T	noncoding	Benign
3	150972521	T	G	T150972521G	CLRN1	NM_174878.3(CLRN1):c.188A>C:p.Tyr63Ser	coding	Pathogenic/Likely_pathogenic
3	150972555	G	A	G150972555A	CLRN1	NM_174878.3(CLRN1):c.154C>T:p.Gln52Ter	coding	Pathogenic/Likely_pathogenic
3	150972581	C	A	C150972581A	CLRN1	NM_174878.3(CLRN1):c.128G>T:p.Gly43Val	coding	Pathogenic/Likely_pathogenic
3	150973012	G	A	G150973012A	CLRN1	NR_024066.2(CLRN1-AS1):n.335G>A	noncoding	Benign
3	150973325	G	A	G150973325A	CLRN1	NM_174878.2(CLRN1):c.-617C>T	noncoding	Benign
3	151165813	C	T	C151165813T	MED12L	NM_001393769.1(MED12L):c.1358-33C>T	noncoding	Benign
3	151338074	G	T	G151338074T	P2RY12	NM_022788.5(P2RY12):c.772C>A:p.Pro258Thr	coding	Pathogenic/Likely_pathogenic
3	151338481	C	T	C151338481T	P2RY12	NM_022788.5(P2RY12):c.365G>A:p.Arg122His	coding	Benign
3	151338482	G	A	G151338482A	P2RY12	NM_022788.5(P2RY12):c.364C>T:p.Arg122Cys	coding	Benign
3	151355245	T	C	T151355245C	MED12L	NM_001393769.1(MED12L):c.2517+6T>C	noncoding	Benign
3	151365135	T	C	T151365135C	MED12L	NM_001393769.1(MED12L):c.3114T>C:p.Asn1038=	coding	Benign
3	151367790	C	A	C151367790A	MED12L	NM_001393769.1(MED12L):c.3448+24C>A	noncoding	Benign
3	151372636	G	A	G151372636A	MED12L	NM_001393769.1(MED12L):c.3734G>A:p.Arg1245Gln	coding	Benign
3	151383903	C	T	C151383903T	MED12L	NM_001393769.1(MED12L):c.4790+15C>T	noncoding	Benign
3	151436826	G	A	G151436826A	IGSF10	NM_178822.5(IGSF10):c.7735C>T:p.His2579Tyr	coding	Benign
3	151436878	T	C	T151436878C	IGSF10	NM_178822.5(IGSF10):c.7683A>G:p.Thr2561=	coding	Benign
3	151437135	T	A	T151437135A	IGSF10	NM_178822.5(IGSF10):c.7426A>T:p.Arg2476Trp	coding	Benign
3	151437460	A	C	A151437460C	IGSF10	NM_178822.5(IGSF10):c.7101T>G:p.Pro2367=	coding	Benign
3	151437595	G	A	G151437595A	IGSF10	NM_178822.5(IGSF10):c.6966C>T:p.Ser2322=	coding	Benign
3	151437832	G	A	G151437832A	IGSF10	NM_178822.5(IGSF10):c.6729C>T:p.Asn2243=	coding	Benign
3	151437970	A	C	A151437970C	IGSF10	NM_178822.5(IGSF10):c.6591T>G:p.Ser2197=	coding	Benign
3	151443148	T	C	T151443148C	IGSF10	NM_178822.5(IGSF10):c.5799A>G:p.Thr1933=	coding	Benign
3	151443324	A	G	A151443324G	IGSF10	NM_178822.5(IGSF10):c.5623T>C:p.Tyr1875His	coding	Benign
3	151445374	A	G	A151445374G	IGSF10	NM_178822.5(IGSF10):c.4607T>C:p.Ile1536Thr	coding	Benign
3	151446050	T	C	T151446050C	IGSF10	NM_178822.5(IGSF10):c.3931A>G:p.Ile1311Val	coding	Benign
3	151446225	G	A	G151446225A	IGSF10	NM_178822.5(IGSF10):c.3756C>T:p.Phe1252=	coding	Benign
3	151446386	A	C	A151446386C	IGSF10	NM_178822.5(IGSF10):c.3595T>G:p.Ser1199Ala	coding	Benign
3	151447129	G	T	G151447129T	IGSF10	NM_178822.5(IGSF10):c.2852C>A:p.Thr951Lys	coding	Benign
3	151447626	T	C	T151447626C	IGSF10	NM_178822.5(IGSF10):c.2355A>G:p.Gln785=	coding	Benign
3	151447890	T	C	T151447890C	IGSF10	NM_178822.5(IGSF10):c.2091A>G:p.Gln697=	coding	Benign
3	151447990	A	G	A151447990G	IGSF10	NM_178822.5(IGSF10):c.1991T>C:p.Met664Thr	coding	Benign
3	151448270	G	A	G151448270A	IGSF10	NM_178822.5(IGSF10):c.1711C>T:p.Pro571Ser	coding	Benign
3	151448634	C	T	C151448634T	IGSF10	NM_178822.5(IGSF10):c.1347G>A:p.Gln449=	coding	Benign
3	151453573	A	G	A151453573G	IGSF10	NM_178822.5(IGSF10):c.526T>C:p.Leu176=	coding	Benign
3	151453618	C	T	C151453618T	IGSF10	NM_178822.5(IGSF10):c.481G>A:p.Glu161Lys	coding	Benign
3	151453651	A	C	A151453651C	IGSF10	NM_178822.5(IGSF10):c.448T>G:p.Tyr150Asp	coding	Benign
3	151453754	A	G	A151453754G	IGSF10	NM_178822.5(IGSF10):c.345T>C:p.Asn115=	coding	Benign
3	151458602	A	G	A151458602G	IGSF10	NM_178822.5(IGSF10):c.108T>C:p.Tyr36=	coding	Benign
3	155083948	A	G	A155083948G	MME	NM_007289.4(MME):c.-10-210A>G	noncoding	Benign
3	155084043	G	A	G155084043A	MME	NM_007289.4(MME):c.-10-115G>A	noncoding	Benign
3	155084189	A	G	A155084189G	MME	NM_007289.4(MME):c.22A>G:p.Met8Val	coding	Benign
3	155084234	C	T	C155084234T	MME	NM_007289.4(MME):c.67C>T:p.Arg23Ter	coding	Pathogenic
3	155084340	C	T	C155084340T	MME	NM_007289.4(MME):c.160+13C>T	noncoding	Benign/Likely_benign
3	155084342	C	T	C155084342T	MME	NM_007289.4(MME):c.160+15C>T	noncoding	Benign/Likely_benign
3	155084953	T	G	T155084953G	MME	NM_007289.4(MME):c.161-106T>G	noncoding	Benign
3	155085112	C	T	C155085112T	MME	NM_007289.4(MME):c.196+18C>T	noncoding	Benign
3	155085131	T	C	T155085131C	MME	NM_007289.4(MME):c.196+37T>C	noncoding	Benign
3	155114979	T	G	T155114979G	MME	NM_007289.4(MME):c.197-15T>G	noncoding	Benign
3	155115061	C	A	C155115061A	MME	NM_007289.4(MME):c.264C>A:p.Cys88Ter	coding	Pathogenic
3	155115429	T	C	T155115429C	MME	NM_007289.4(MME):c.358+274T>C	noncoding	Benign
3	155116867	G	A	G155116867A	MME	NM_007289.4(MME):c.536-1G>A	noncoding	Pathogenic
3	155118593	A	T	A155118593T	MME	NM_007289.4(MME):c.655-153A>T	noncoding	Benign
3	155137820	T	C	T155137820C	MME	NM_007289.4(MME):c.721-282T>C	noncoding	Benign
3	155140108	C	T	C155140108T	MME	NM_007289.4(MME):c.856-83C>T	noncoding	Benign
3	155140289	G	A	G155140289A	MME	NM_007289.4(MME):c.954G>A:p.Gly318=	coding	Benign
3	155140369	C	T	C155140369T	MME	NM_007289.4(MME):c.957+77C>T	noncoding	Benign
3	155141792	G	A	G155141792A	MME	NM_007289.4(MME):c.958-199G>A	noncoding	Benign
3	155141861	C	G	C155141861G	MME	NM_007289.4(MME):c.958-130C>G	noncoding	Benign
3	155142295	C	T	C155142295T	MME	NM_007289.4(MME):c.1153C>T:p.Arg385Ter	coding	Pathogenic
3	155143119	A	G	A155143119G	MME	NM_007289.4(MME):c.1189-324A>G	noncoding	Benign
3	155144601	T	A	T155144601A	MME	NM_007289.4(MME):c.1416+144T>A	noncoding	Benign
3	155148664	T	C	T155148664C	MME	NM_007289.4(MME):c.1601+11T>C	noncoding	Benign
3	155148756	A	C	A155148756C	MME	NM_007289.4(MME):c.1601+103A>C	noncoding	Benign
3	155166885	A	G	A155166885G	MME	NM_007289.4(MME):c.1661-17A>G	noncoding	Benign
3	155167330	T	C	T155167330C	MME	NM_007289.4(MME):c.1780+309T>C	noncoding	Benign
3	155168489	T	C	T155168489C	MME	NM_007289.4(MME):c.1781-3T>C	noncoding	Benign
3	155168720	C	G	C155168720G	MME	NM_007289.4(MME):c.1915-12C>G	noncoding	Benign/Likely_benign
3	155172186	C	T	C155172186T	MME	NM_007289.4(MME):c.2050C>T:p.Gln684Ter	coding	Pathogenic
3	155172248	C	A	C155172248A	MME	NM_007289.4(MME):c.2076+36C>A	noncoding	Benign
3	155172417	G	A	G155172417A	MME	NM_007289.4(MME):c.2077-119G>A	noncoding	Benign
3	155172741	A	C	A155172741C	MME	NM_007289.4(MME):c.2153+129A>C	noncoding	Benign
3	155180338	A	G	A155180338G	MME	NM_007289.4(MME):c.2154-22A>G	noncoding	Benign
3	155180360	G	T	G155180360T	MME	NM_007289.4(MME):c.2154G>T:p.Arg718Ser	coding	Pathogenic
3	155180618	C	T	C155180618T	MME	NM_007289.4(MME):c.*159C>T	noncoding	Benign
3	155180626	G	T	G155180626T	MME	NM_007289.4(MME):c.*167G>T	noncoding	Benign
3	155494222	G	A	G155494222A	PLCH1	NM_014996.4(PLCH1):c.2101C>T:p.Arg701Ter	coding	Pathogenic
3	155829485	C	T	C155829485T	SLC33A1	NM_004733.4(SLC33A1):c.1482+203G>A	noncoding	Benign
3	155829719	T	G	T155829719G	SLC33A1	NM_004733.4(SLC33A1):c.1451A>C:p.Asn484Thr	coding	Benign/Likely_benign
3	155830139	G	A	G155830139A	SLC33A1	NM_004733.4(SLC33A1):c.1267-236C>T	noncoding	Benign
3	155833355	T	C	T155833355C	SLC33A1	NM_004733.4(SLC33A1):c.1266+113A>G	noncoding	Benign
3	155833414	T	C	T155833414C	SLC33A1	NM_004733.4(SLC33A1):c.1266+54A>G	noncoding	Benign
3	155833417	C	T	C155833417T	SLC33A1	NM_004733.4(SLC33A1):c.1266+51G>A	noncoding	Benign
3	155833874	G	C	G155833874C	SLC33A1	NM_004733.4(SLC33A1):c.1131C>G:p.Tyr377Ter	coding	Pathogenic
3	155834105	A	G	A155834105G	SLC33A1	NM_004733.4(SLC33A1):c.964-64T>C	noncoding	Benign
3	155834201	G	A	G155834201A	SLC33A1	NM_004733.4(SLC33A1):c.964-160C>T	noncoding	Benign
3	155854340	C	T	C155854340T	SLC33A1	NM_004733.4(SLC33A1):c.-343G>A	noncoding	Benign
3	156544443	C	G	C156544443G	SSR3	NM_007107.5(SSR3):c.360-4G>C	noncoding	Benign
3	156548853	C	T	C156548853T	SSR3	NM_007107.5(SSR3):c.359+52G>A	noncoding	Benign
3	156548976	A	G	A156548976G	SSR3	NM_007107.5(SSR3):c.288T>C:p.Val96=	coding	Benign
3	156548985	C	T	C156548985T	SSR3	NM_007107.5(SSR3):c.279G>A:p.Glu93=	coding	Benign
3	158122107	G	T	G158122107T	RSRC1	NM_001271838.2(RSRC1):c.3G>T:p.Met1Ile	coding	Pathogenic
3	158354856	G	A	G158354856A	RSRC1	NM_001271838.2(RSRC1):c.532-1G>A	noncoding	Pathogenic
3	158644703	G	A	G158644703A	GFM1	NM_024996.7(GFM1):c.69G>A:p.Trp23Ter	coding	Pathogenic
3	158644737	A	G	A158644737G	GFM1	NM_024996.7(GFM1):c.81+22A>G	noncoding	Benign
3	158644799	C	G	C158644799G	GFM1	NM_024996.7(GFM1):c.81+84C>G	noncoding	Benign
3	158646544	G	A	G158646544A	GFM1	NM_024996.7(GFM1):c.368-199G>A	noncoding	Benign
3	158646784	G	A	G158646784A	GFM1	NM_024996.7(GFM1):c.409G>A:p.Val137Met	coding	Pathogenic
3	158646907	C	T	C158646907T	GFM1	NM_024996.7(GFM1):c.532C>T:p.Arg178Ter	coding	Pathogenic
3	158649357	A	G	A158649357G	GFM1	NM_024996.7(GFM1):c.689+200A>G	noncoding	Benign
3	158650048	C	T	C158650048T	GFM1	NM_024996.7(GFM1):c.689+891C>T	coding	Benign
3	158650368	A	C	A158650368C	GFM1	NM_024996.7(GFM1):c.689+1211A>C	noncoding	Benign
3	158652000	T	A	T158652000A	GFM1	NM_024996.7(GFM1):c.690-96T>A	noncoding	Benign
3	158652009	A	G	A158652009G	GFM1	NM_024996.7(GFM1):c.690-87A>G	noncoding	Benign
3	158653086	C	T	C158653086T	GFM1	NM_024996.7(GFM1):c.841-224C>T	noncoding	Benign
3	158653319	C	T	C158653319T	GFM1	NM_024996.7(GFM1):c.850C>T:p.Arg284Ter	coding	Pathogenic
3	158654326	A	T	A158654326T	GFM1	NM_024996.7(GFM1):c.999-221A>T	noncoding	Benign
3	158654688	C	T	C158654688T	GFM1	NM_024996.7(GFM1):c.1083+57C>T	noncoding	Benign
3	158654713	T	C	T158654713C	GFM1	NM_024996.7(GFM1):c.1083+82T>C	noncoding	Benign
3	158658928	C	T	C158658928T	GFM1	NM_024996.7(GFM1):c.1090C>T:p.Arg364Ter	coding	Pathogenic
3	158659024	C	T	C158659024T	GFM1	NM_024996.7(GFM1):c.1186C>T:p.Gln396Ter	coding	Pathogenic
3	158661047	A	G	A158661047G	GFM1	NM_024996.7(GFM1):c.1323+72A>G	noncoding	Benign
3	158662361	G	A	G158662361A	GFM1	NM_024996.7(GFM1):c.1324-267G>A	noncoding	Benign
3	158662628	G	T	G158662628T	GFM1	NM_024996.7(GFM1):c.1324G>T:p.Glu442Ter	coding	Pathogenic
3	158662905	T	A	T158662905A	GFM1	NM_024996.7(GFM1):c.1380+221T>A	noncoding	Benign
3	158666279	A	G	A158666279G	GFM1	NM_024996.7(GFM1):c.1519-25A>G	noncoding	Benign
3	158666361	C	T	C158666361T	GFM1	NM_024996.7(GFM1):c.1576C>T:p.Arg526Ter	coding	Pathogenic
3	158682035	C	T	C158682035T	GFM1	NM_024996.7(GFM1):c.1642C>T:p.Gln548Ter	coding	Pathogenic
3	158682168	A	T	A158682168T	GFM1	NM_024996.7(GFM1):c.1764+11A>T	coding	Benign/Likely_benign
3	158684593	C	T	C158684593T	GFM1	NM_024996.7(GFM1):c.1834C>T:p.Gln612Ter	coding	Pathogenic
3	158684641	C	T	C158684641T	GFM1	NM_024996.7(GFM1):c.1882C>T:p.Arg628Ter	coding	Pathogenic
3	158684681	C	G	C158684681G	GFM1	NM_024996.7(GFM1):c.1909+13C>G	noncoding	Benign/Likely_benign
3	158684681	C	T	C158684681T	GFM1	NM_024996.7(GFM1):c.1909+13C>T	noncoding	Benign/Likely_benign
3	158690334	T	G	T158690334G	GFM1	NM_024996.7(GFM1):c.2070+11T>G	noncoding	Benign/Likely_benign
3	158691119	T	C	T158691119C	GFM1	NM_024996.7(GFM1):c.2071-20T>C	noncoding	Benign/Likely_benign
3	160277157	T	C	T160277157C	IFT80	NM_020800.3(IFT80):c.2099+149A>G	noncoding	Benign
3	160277625	G	A	G160277625A	IFT80	NM_020800.3(IFT80):c.1882C>T:p.Arg628Ter	coding	Pathogenic
3	160285660	G	A	G160285660A	IFT80	NM_020800.3(IFT80):c.1380+144C>T	noncoding	Benign
3	160285889	T	C	T160285889C	IFT80	NM_020800.3(IFT80):c.1316-21A>G	noncoding	Benign
3	160300854	G	C	G160300854C	IFT80	NM_020800.3(IFT80):c.1315+29C>G	noncoding	Benign
3	160303893	G	A	G160303893A	IFT80	NM_020800.3(IFT80):c.1151+22C>T	noncoding	Benign
3	160307499	C	T	C160307499T	IFT80	NM_020800.3(IFT80):c.1076+164G>A	noncoding	Benign
3	160307789	A	G	A160307789G	IFT80	NM_020800.3(IFT80):c.958-8T>C	noncoding	Benign
3	160307844	G	A	G160307844A	IFT80	NM_020800.3(IFT80):c.958-63C>T	noncoding	Benign
3	160320116	G	A	G160320116A	IFT80	NM_020800.3(IFT80):c.778-177C>T	noncoding	Benign
3	160355993	T	C	T160355993C	IFT80	NM_020800.3(IFT80):c.777+20A>G	noncoding	Benign
3	160357318	G	A	G160357318A	IFT80	NM_020800.3(IFT80):c.639+171C>T	noncoding	Benign
3	160357577	C	T	C160357577T	IFT80	NM_020800.3(IFT80):c.551G>A:p.Trp184Ter	coding	Pathogenic
3	160357596	A	G	A160357596G	IFT80	NM_020800.3(IFT80):c.550-18T>C	noncoding	Benign
3	160366027	A	G	A160366027G	IFT80	NM_020800.3(IFT80):c.549+16T>C	noncoding	Benign
3	160377199	G	A	G160377199A	IFT80	NM_020800.3(IFT80):c.370+231C>T	noncoding	Benign
3	160377232	G	T	G160377232T	IFT80	NM_020800.3(IFT80):c.370+198C>A	noncoding	Benign
3	160381485	T	C	T160381485C	IFT80	NM_020800.3(IFT80):c.259+18A>G	noncoding	Benign
3	160384859	A	T	A160384859T	IFT80	NM_020800.3(IFT80):c.-46-213T>A	noncoding	Benign
3	164982999	T	A	T164982999A	SI	NM_001041.4(SI):c.5247+3A>T	noncoding	Benign
3	164983055	T	C	T164983055C	SI	NM_001041.4(SI):c.5198-4A>G	noncoding	Benign
3	164983068	A	G	A164983068G	SI	NM_001041.4(SI):c.5198-17T>C	noncoding	Benign
3	164991462	C	T	C164991462T	SI	NM_001041.4(SI):c.4999G>A:p.Val1667Ile	coding	Benign
3	164992183	G	C	G164992183C	SI	NM_001041.4(SI):c.4977C>G:p.Tyr1659Ter	coding	Pathogenic
3	164992252	G	A	G164992252A	SI	NM_001041.4(SI):c.4927-19C>T	noncoding	Benign
3	164994248	T	C	T164994248C	SI	NM_001041.4(SI):c.4841+9A>G	noncoding	Benign/Likely_benign
3	164994273	G	A	G164994273A	SI	NM_001041.4(SI):c.4825C>T:p.Arg1609Ter	coding	Pathogenic/Likely_pathogenic
3	164994394	G	A	G164994394A	SI	NM_001041.4(SI):c.4704C>T:p.Pro1568=	coding	Benign
3	164996738	A	C	A164996738C	SI	NM_001041.4(SI):c.4575T>G:p.Tyr1525Ter	coding	Pathogenic
3	164996790	A	C	A164996790C	SI	NM_001041.4(SI):c.4541-18T>G	noncoding	Benign
3	164998570	G	A	G164998570A	SI	NM_001041.4(SI):c.4510C>T:p.Arg1504Ter	coding	Pathogenic
3	164998662	T	C	T164998662C	SI	NM_001041.4(SI):c.4418A>G:p.Lys1473Arg	coding	Benign
3	165006947	T	C	T165006947C	SI	NM_001041.4(SI):c.4275A>G:p.Thr1425=	coding	Benign
3	165006968	A	G	A165006968G	SI	NM_001041.4(SI):c.4268-14T>C	noncoding	Benign/Likely_benign
3	165012998	C	T	C165012998T	SI	NM_001041.4(SI):c.4044G>A:p.Thr1348=	coding	Benign/Likely_benign
3	165013016	T	C	T165013016C	SI	NM_001041.4(SI):c.4026A>G:p.Thr1342=	coding	Benign/Likely_benign
3	165015150	T	C	T165015150C	SI	NM_001041.4(SI):c.3972A>G:p.Pro1324=	coding	Benign
3	165015933	G	A	G165015933A	SI	NM_001041.4(SI):c.3888+19C>T	noncoding	Benign
3	165017862	G	A	G165017862A	SI	NM_001041.4(SI):c.3532C>T:p.Gln1178Ter	coding	Pathogenic
3	165018037	G	A	G165018037A	SI	NM_001041.4(SI):c.3453C>T:p.Pro1151=	coding	Benign
3	165021254	G	A	G165021254A	SI	NM_001041.4(SI):c.3229C>T:p.Arg1077Ter	coding	Pathogenic
3	165021397	G	A	G165021397A	SI	NM_001041.4(SI):c.3100-14C>T	noncoding	Benign
3	165023655	T	G	T165023655G	SI	NM_001041.4(SI):c.3014A>C:p.Asn1005Thr	coding	Benign
3	165023699	A	G	A165023699G	SI	NM_001041.4(SI):c.2970T>C:p.Tyr990=	coding	Benign
3	165030717	T	G	T165030717G	SI	NM_001041.4(SI):c.2887A>C:p.Arg963=	coding	Benign/Likely_benign
3	165030739	G	T	G165030739T	SI	NM_001041.4(SI):c.2865C>A:p.Cys955Ter	coding	Pathogenic
3	165036370	G	A	G165036370A	SI	NM_001041.4(SI):c.2515+19C>T	noncoding	Benign
3	165037983	A	G	A165037983G	SI	NM_001041.4(SI):c.2343T>C:p.Tyr781=	coding	Benign
3	165038005	C	T	C165038005T	SI	NM_001041.4(SI):c.2321G>A:p.Arg774Lys	coding	Benign
3	165039058	A	C	A165039058C	SI	NM_001041.4(SI):c.2301+20T>G	noncoding	Benign
3	165039873	C	T	C165039873T	SI	NM_001041.4(SI):c.2244+14G>A	noncoding	Benign/Likely_benign
3	165039889	G	A	G165039889A	SI	NM_001041.4(SI):c.2242C>T:p.Gln748Ter	coding	Pathogenic
3	165046891	C	A	C165046891A	SI	NM_001041.4(SI):c.1837G>T:p.Glu613Ter	coding	Pathogenic
3	165055169	C	T	C165055169T	SI	NM_001041.4(SI):c.1512+25G>A	noncoding	Benign
3	165055200	A	C	A165055200C	SI	NM_001041.4(SI):c.1506T>G:p.Leu502=	coding	Benign
3	165059228	G	A	G165059228A	SI	NM_001041.4(SI):c.1218C>T:p.Asn406=	coding	Benign
3	165059969	C	T	C165059969T	SI	NM_001041.4(SI):c.1079G>A:p.Trp360Ter	coding	Pathogenic
3	165063517	G	A	G165063517A	SI	NM_001041.4(SI):c.832C>T:p.Gln278Ter	coding	Pathogenic
3	165065351	A	T	A165065351T	SI	NM_001041.4(SI):c.717T>A:p.Tyr239Ter	coding	Pathogenic
3	165065376	G	C	G165065376C	SI	NM_001041.4(SI):c.692C>G:p.Thr231Ser	coding	Benign
3	165829680	G	A	G165829680A	BCHE	NM_000055.4(BCHE):c.1354C>T:p.Arg452Ter	coding	Pathogenic
3	165829905	C	A	C165829905A	BCHE	NM_000055.4(BCHE):c.1129G>T:p.Glu377Ter	coding	Pathogenic
3	165830030	A	G	A165830030G	BCHE	NM_000055.4(BCHE):c.1004T>C:p.Leu335Pro	coding	Pathogenic/Likely_pathogenic
3	167684391	T	C	T167684391C	PDCD10	NM_007217.4(PDCD10):c.558-2A>G	noncoding	Pathogenic
3	167684391	T	G	T167684391G	PDCD10	NM_007217.4(PDCD10):c.558-2A>C	noncoding	Pathogenic
3	167684448	T	C	T167684448C	PDCD10	NM_007217.4(PDCD10):c.558-59A>G	noncoding	Benign
3	167684486	A	G	A167684486G	PDCD10	NM_007217.4(PDCD10):c.558-97T>C	noncoding	Benign
3	167684656	A	C	A167684656C	PDCD10	NM_007217.4(PDCD10):c.558-267T>G	noncoding	Benign
3	167687233	C	T	C167687233T	PDCD10	NM_007217.4(PDCD10):c.557+1G>A	noncoding	Pathogenic
3	167687633	A	C	A167687633C	PDCD10	NM_007217.4(PDCD10):c.456T>G:p.Tyr152Ter	coding	Pathogenic
3	167695380	T	C	T167695380C	PDCD10	NM_007217.4(PDCD10):c.395+216A>G	noncoding	Benign
3	167695594	A	C	A167695594C	PDCD10	NM_007217.4(PDCD10):c.395+2T>G	noncoding	Pathogenic
3	167697117	C	A	C167697117A	PDCD10	NM_007217.4(PDCD10):c.160G>T:p.Glu54Ter	coding	Pathogenic
3	167704749	C	T	C167704749T	PDCD10	NM_007217.4(PDCD10):c.150+93G>A	noncoding	Benign
3	167704841	C	T	C167704841T	PDCD10	NM_007217.4(PDCD10):c.150+1G>A	noncoding	Pathogenic/Likely_pathogenic
3	167704888	C	T	C167704888T	PDCD10	NM_007217.4(PDCD10):c.104G>A:p.Arg35Gln	coding	Benign/Likely_benign
3	167734916	A	C	A167734916C	PDCD10	Single_allele	noncoding	Benign
3	167735203	T	C	T167735203C	SERPINI1	NC_000003.11:g.167452991T>C	noncoding	Benign
3	167735251	T	C	T167735251C	SERPINI1	NC_000003.11:g.167453039T>C	noncoding	Benign
3	167790174	T	A	T167790174A	SERPINI1	NM_001122752.2(SERPINI1):c.251-198T>A	noncoding	Benign
3	167790233	A	G	A167790233G	SERPINI1	NM_001122752.2(SERPINI1):c.251-139A>G	noncoding	Benign
3	167790250	G	C	G167790250C	SERPINI1	NM_001122752.2(SERPINI1):c.251-122G>C	noncoding	Benign
3	167790274	T	C	T167790274C	SERPINI1	NM_001122752.2(SERPINI1):c.251-98T>C	noncoding	Benign
3	167790362	C	G	C167790362G	SERPINI1	NM_001122752.2(SERPINI1):c.251-10C>G	noncoding	Benign
3	167792414	A	G	A167792414G	SERPINI1	NM_001122752.2(SERPINI1):c.482-176A>G	noncoding	Benign
3	167792426	A	G	A167792426G	SERPINI1	NM_001122752.2(SERPINI1):c.482-164A>G	noncoding	Benign
3	167792570	A	G	A167792570G	SERPINI1	NM_001122752.2(SERPINI1):c.482-20A>G	noncoding	Benign
3	167823150	T	C	T167823150C	SERPINI1	NM_001122752.2(SERPINI1):c.1066+78T>C	noncoding	Benign
3	167824281	G	A	G167824281A	SERPINI1	NM_001122752.2(SERPINI1):c.1067-192G>A	noncoding	Benign
3	169095189	C	T	C169095189T	MECOM	NM_004991.4(MECOM):c.2906G>A:p.Arg969His	coding	Pathogenic
3	169095190	G	A	G169095190A	MECOM	NM_004991.4(MECOM):c.2905C>T:p.Arg969Cys	coding	Pathogenic
3	169100885	C	G	C169100885G	MECOM	NM_004991.4(MECOM):c.2849G>C:p.Arg950Thr	coding	Pathogenic
3	169107940	C	T	C169107940T	MECOM	NM_004991.4(MECOM):c.2590G>A:p.Asp864Asn	coding	Benign
3	169115520	A	G	A169115520G	MECOM	NM_004991.4(MECOM):c.2352T>C:p.Ser784=	coding	Benign
3	169764736	C	A	C169764736A	TERC	NR_001566.1(TERC):n.325G>T	noncoding	Pathogenic
3	169764849	G	C	G169764849C	TERC	NR_001566.1(TERC):n.212C>G	noncoding	Pathogenic
3	169765305	C	T	C169765305T	TERC	NR_001566.1(TERC):n.-245G>A	noncoding	Benign/Likely_benign
3	170432754	T	C	T170432754C	CLDN11	NM_005602.6(CLDN11):c.622T>C:p.Ter208Gln	coding	Pathogenic
3	170432754	T	G	T170432754G	CLDN11	NM_005602.6(CLDN11):c.622T>G:p.Ter208Glu	coding	Pathogenic
3	170467161	G	A	G170467161A	SLC7A14	NM_020949.3(SLC7A14):c.2210C>T:p.Ala737Val	coding	Benign
3	170467386	C	T	C170467386T	SLC7A14	NM_020949.3(SLC7A14):c.1994-9G>A	noncoding	Benign
3	170480742	C	T	C170480742T	SLC7A14	NM_020949.3(SLC7A14):c.1540G>A:p.Val514Met	coding	Benign
3	170481109	C	T	C170481109T	SLC7A14	NM_020949.3(SLC7A14):c.1173G>A:p.Ser391=	coding	Benign
3	170481178	G	A	G170481178A	SLC7A14	NM_020949.3(SLC7A14):c.1116-12C>T	noncoding	Benign
3	170526628	C	T	C170526628T	SLC7A14	NM_020949.3(SLC7A14):c.304+5G>A	noncoding	Benign
3	170526838	C	A	C170526838A	SLC7A14	NM_020949.3(SLC7A14):c.99G>T:p.Glu33Asp	coding	Benign
3	170998317	G	A	G170998317A	SLC2A2	NM_000340.2(SLC2A2):c.1250C>T:p.Pro417Leu	coding	Pathogenic/Likely_pathogenic
3	170999064	C	A	C170999064A	SLC2A2	NM_000340.2(SLC2A2):c.1170+1G>T	noncoding	Pathogenic
3	171002232	G	C	G171002232C	SLC2A2	NM_000340.2(SLC2A2):c.1068+344C>G	noncoding	Benign
3	171005133	G	A	G171005133A	SLC2A2	NM_000340.2(SLC2A2):c.963+152C>T	noncoding	Benign
3	171005271	G	A	G171005271A	SLC2A2	NM_000340.2(SLC2A2):c.963+14C>T	noncoding	Benign/Likely_benign
3	171005296	C	T	C171005296T	SLC2A2	NM_000340.2(SLC2A2):c.952G>A:p.Gly318Arg	coding	Pathogenic
3	171005875	A	G	A171005875G	SLC2A2	NM_000340.2(SLC2A2):c.775+68T>C	noncoding	Benign
3	171005879	C	T	C171005879T	SLC2A2	NM_000340.2(SLC2A2):c.775+64G>A	noncoding	Benign
3	171006036	G	A	G171006036A	SLC2A2	NM_000340.2(SLC2A2):c.682C>T:p.Arg228Ter	coding	Pathogenic
3	171006247	T	C	T171006247C	SLC2A2	NM_000340.2(SLC2A2):c.613-142A>G	noncoding	Benign
3	171006940	C	T	C171006940T	SLC2A2	NM_000340.2(SLC2A2):c.612+208G>A	noncoding	Benign
3	171007094	T	C	T171007094C	SLC2A2	NM_000340.2(SLC2A2):c.612+54A>G	noncoding	Benign
3	171009869	G	A	G171009869A	SLC2A2	NM_000340.2(SLC2A2):c.496+89C>T	noncoding	Benign
3	171009914	T	G	T171009914G	SLC2A2	NM_000340.2(SLC2A2):c.496+44A>C	noncoding	Benign
3	171014489	C	T	C171014489T	SLC2A2	NM_000340.2(SLC2A2):c.351G>A:p.Trp117Ter	coding	Pathogenic
3	171014624	G	A	G171014624A	SLC2A2	NM_000340.2(SLC2A2):c.216C>T:p.Tyr72=	coding	Benign
3	171014683	G	A	G171014683A	SLC2A2	NM_000340.2(SLC2A2):c.157C>T:p.Arg53Ter	coding	Pathogenic
3	171014810	G	A	G171014810A	SLC2A2	NM_000340.2(SLC2A2):c.109-79C>T	noncoding	Benign
3	171018403	G	A	G171018403A	SLC2A2	NM_000340.2(SLC2A2):c.108+128C>T	noncoding	Benign
3	171018919	A	T	A171018919T	SLC2A2	NM_000340.2(SLC2A2):c.16-296T>A	noncoding	Benign
3	171026572	C	T	C171026572T	SLC2A2	NM_000340.2(SLC2A2):c.15+84G>A	noncoding	Benign
3	171026669	A	C	A171026669C	SLC2A2	NM_000340.2(SLC2A2):c.2T>G:p.Met1Arg	coding	Pathogenic
3	171027026	T	C	T171027026C	SLC2A2	NC_000003.11:g.170744815T>C	noncoding	Benign
3	171027104	G	A	G171027104A	SLC2A2	NC_000003.11:g.170744893G>A	noncoding	Benign
3	171027131	T	G	T171027131G	SLC2A2	NC_000003.11:g.170744920T>G	noncoding	Benign
3	171085121	C	T	C171085121T	TNIK	NM_015028.4(TNIK):c.2995G>A:p.Ala999Thr	coding	Benign
3	171093878	G	A	G171093878A	TNIK	NM_015028.4(TNIK):c.2682C>T:p.Ser894=	coding	Benign
3	171108116	C	G	C171108116G	TNIK	NM_015028.4(TNIK):c.2331G>C:p.Ala777=	coding	Benign
3	171108131	G	A	G171108131A	TNIK	NM_015028.4(TNIK):c.2316C>T:p.Leu772=	coding	Benign
3	171139451	T	C	T171139451C	TNIK	NM_015028.4(TNIK):c.1419+19A>G	noncoding	Benign
3	171175281	G	A	G171175281A	TNIK	NM_015028.4(TNIK):c.744C>T:p.Asn248=	coding	Benign
3	171369680	G	A	G171369680A	TNIK	NM_015028.4(TNIK):c.63C>T:p.Pro21=	coding	Benign
3	171602816	T	C	T171602816C	PLD1	NM_002662.5(PLD1):c.*262A>G	noncoding	Benign
3	171603117	C	T	C171603117T	PLD1	NM_002662.5(PLD1):c.3186G>A:p.Gly1062=	coding	Benign
3	171603524	T	C	T171603524C	PLD1	NM_002662.5(PLD1):c.3001-222A>G	noncoding	Benign
3	171605084	T	C	T171605084C	PLD1	NM_002662.5(PLD1):c.3000+215A>G	noncoding	Benign
3	171605515	T	C	T171605515C	PLD1	NM_002662.5(PLD1):c.2883-99A>G	noncoding	Benign
3	171605603	C	T	C171605603T	PLD1	NM_002662.5(PLD1):c.2883-187G>A	noncoding	Benign
3	171612186	T	C	T171612186C	PLD1	NM_002662.5(PLD1):c.2882+93A>G	noncoding	Benign
3	171612191	T	C	T171612191C	PLD1	NM_002662.5(PLD1):c.2882+88A>G	noncoding	Benign
3	171612446	C	G	C171612446G	PLD1	NM_002662.5(PLD1):c.2729-14G>C	noncoding	Benign
3	171620447	T	G	T171620447G	PLD1	NM_002662.5(PLD1):c.2667A>C:p.Val889=	coding	Benign
3	171643142	G	T	G171643142T	PLD1	NM_002662.5(PLD1):c.2544-253C>A	noncoding	Benign
3	171644995	C	T	C171644995T	PLD1	NM_002662.5(PLD1):c.2458G>A:p.Val820Met	coding	Benign
3	171645141	G	A	G171645141A	PLD1	NM_002662.5(PLD1):c.2430-118C>T	noncoding	Benign
3	171645187	A	G	A171645187G	PLD1	NM_002662.5(PLD1):c.2430-164T>C	noncoding	Benign
3	171659268	C	G	C171659268G	PLD1	NM_002662.5(PLD1):c.2374G>C:p.Val792Leu	coding	Benign
3	171659451	A	T	A171659451T	PLD1	NM_002662.5(PLD1):c.2341-150T>A	noncoding	Benign
3	171661747	G	A	G171661747A	PLD1	NM_002662.5(PLD1):c.2340+313C>T	noncoding	Benign
3	171662384	G	A	G171662384A	PLD1	NM_002662.5(PLD1):c.2230-214C>T	noncoding	Benign
3	171677035	C	T	C171677035T	PLD1	NM_002662.5(PLD1):c.1997-202G>A	noncoding	Benign
3	171677235	G	A	G171677235A	PLD1	NM_002662.5(PLD1):c.1996+331C>T	noncoding	Benign
3	171677490	T	C	T171677490C	PLD1	NM_002662.5(PLD1):c.1996+76A>G	noncoding	Benign
3	171677533	A	G	A171677533G	PLD1	NM_002662.5(PLD1):c.1996+33T>C	noncoding	Benign
3	171677552	A	G	A171677552G	PLD1	NM_002662.5(PLD1):c.1996+14T>C	noncoding	Benign
3	171677678	A	G	A171677678G	PLD1	NM_002662.5(PLD1):c.1884T>C:p.Arg628=	coding	Benign
3	171677714	C	G	C171677714G	PLD1	NM_002662.5(PLD1):c.1868-20G>C	noncoding	Benign
3	171686688	C	A	C171686688A	PLD1	NM_002662.5(PLD1):c.1864G>T:p.Ala622Ser	coding	Benign
3	171687594	A	T	A171687594T	PLD1	NM_002662.5(PLD1):c.1540-10T>A	noncoding	Benign
3	171689030	C	T	C171689030T	PLD1	NM_002662.5(PLD1):c.1339-154G>A	noncoding	Benign
3	171699842	C	G	C171699842G	PLD1	NM_002662.5(PLD1):c.1146-16G>C	noncoding	Benign
3	171699842	C	T	C171699842T	PLD1	NM_002662.5(PLD1):c.1146-16G>A	noncoding	Benign
3	171708971	G	T	G171708971T	PLD1	NM_002662.5(PLD1):c.1062-133C>A	noncoding	Benign
3	171709755	T	C	T171709755C	PLD1	NM_002662.5(PLD1):c.912-46A>G	noncoding	Benign
3	171709791	C	T	C171709791T	PLD1	NM_002662.5(PLD1):c.912-82G>A	noncoding	Benign
3	171713924	T	A	T171713924A	PLD1	NM_002662.5(PLD1):c.880A>T:p.Lys294Ter	coding	Pathogenic
3	171724501	C	T	C171724501T	PLD1	NM_002662.5(PLD1):c.758+195G>A	noncoding	Benign
3	171724597	T	G	T171724597G	PLD1	NM_002662.5(PLD1):c.758+99A>C	noncoding	Benign
3	171724845	C	T	C171724845T	PLD1	NM_002662.5(PLD1):c.666-57G>A	noncoding	Benign
3	171724984	G	A	G171724984A	PLD1	NM_002662.5(PLD1):c.666-196C>T	noncoding	Benign
3	171725807	G	A	G171725807A	PLD1	NM_002662.5(PLD1):c.665+211C>T	noncoding	Benign
3	171725817	C	G	C171725817G	PLD1	NM_002662.5(PLD1):c.665+201G>C	noncoding	Benign
3	171725945	G	A	G171725945A	PLD1	NM_002662.5(PLD1):c.665+73C>T	noncoding	Benign
3	171726078	T	G	T171726078G	PLD1	NM_002662.5(PLD1):c.607-2A>C	noncoding	Pathogenic
3	171726165	T	A	T171726165A	PLD1	NM_002662.5(PLD1):c.607-89A>T	noncoding	Benign
3	171726189	A	T	A171726189T	PLD1	NM_002662.5(PLD1):c.607-113T>A	noncoding	Benign
3	171734609	A	G	A171734609G	PLD1	NM_002662.5(PLD1):c.540+256T>C	noncoding	Benign
3	171734613	T	C	T171734613C	PLD1	NM_002662.5(PLD1):c.540+252A>G	noncoding	Benign
3	171734646	G	T	G171734646T	PLD1	NM_002662.5(PLD1):c.540+219C>A	noncoding	Benign
3	171734855	A	G	A171734855G	PLD1	NM_002662.5(PLD1):c.540+10T>C	noncoding	Benign
3	171735861	G	A	G171735861A	PLD1	NM_002662.5(PLD1):c.289-224C>T	noncoding	Benign
3	171737398	T	C	T171737398C	PLD1	NM_002662.5(PLD1):c.288+134A>G	noncoding	Benign
3	171737551	C	T	C171737551T	PLD1	NM_002662.5(PLD1):c.269G>A:p.Arg90His	coding	Benign
3	172445659	G	A	G172445659A	GHSR	NM_198407.2(GHSR):c.797-194C>T	noncoding	Benign
3	172447373	A	G	A172447373G	GHSR	NM_198407.2(GHSR):c.796+245T>C	noncoding	Benign
3	172448204	G	A	G172448204A	GHSR	NM_198407.2(GHSR):c.210C>T:p.Arg70=	coding	Benign/Likely_benign
3	172448327	C	A	C172448327A	GHSR	NM_198407.2(GHSR):c.87G>T:p.Ser29=	coding	Benign
3	172506285	C	T	C172506285T	TNFSF10	NM_003810.4(TNFSF10):c.*207G>A	noncoding	Benign
3	172506513	A	G	A172506513G	TNFSF10	NM_003810.4(TNFSF10):c.825T>C:p.Phe275=	coding	Benign
3	172509409	C	T	C172509409T	TNFSF10	NM_003810.4(TNFSF10):c.314-88G>A	noncoding	Benign
3	172518650	T	G	T172518650G	TNFSF10	NM_003810.4(TNFSF10):c.133-3652A>C	noncoding	Benign
3	172523209	T	G	T172523209G	TNFSF10	NM_003810.4(TNFSF10):c.132+44A>C	noncoding	Benign
3	172925071	A	G	A172925071G	SPATA16	NM_031955.6(SPATA16):c.1228+275T>C	noncoding	Benign
3	174279363	G	A	G174279363A	NLGN1	NM_001365925.2(NLGN1):c.1422G>A:p.Lys474=	coding	Benign
3	177032946	G	C	G177032946C	TBL1XR1	NM_024665.7(TBL1XR1):c.1416+25C>G	noncoding	Benign
3	177032957	T	C	T177032957C	TBL1XR1	NM_024665.7(TBL1XR1):c.1416+14A>G	noncoding	Benign/Likely_benign
3	177033047	C	T	C177033047T	TBL1XR1	NM_024665.7(TBL1XR1):c.1340G>A:p.Ser447Asn	coding	Pathogenic
3	177033054	C	G	C177033054G	TBL1XR1	NM_024665.7(TBL1XR1):c.1333G>C:p.Val445Leu	coding	Pathogenic
3	177033149	G	C	G177033149C	TBL1XR1	NM_024665.7(TBL1XR1):c.1251-13C>G	noncoding	Benign
3	177034253	A	T	A177034253T	TBL1XR1	NM_024665.7(TBL1XR1):c.1195T>A:p.Trp399Arg	coding	Pathogenic
3	177034264	T	C	T177034264C	TBL1XR1	NM_024665.7(TBL1XR1):c.1184A>G:p.Tyr395Cys	coding	Pathogenic/Likely_pathogenic
3	177034266	A	C	A177034266C	TBL1XR1	NM_024665.7(TBL1XR1):c.1182T>G:p.Ile394Met	coding	Pathogenic
3	177034339	A	C	A177034339C	TBL1XR1	NM_024665.7(TBL1XR1):c.1123-14T>G	noncoding	Benign
3	177034414	A	T	A177034414T	TBL1XR1	NM_024665.7(TBL1XR1):c.1123-89T>A	noncoding	Benign
3	177038149	C	T	C177038149T	TBL1XR1	NM_024665.7(TBL1XR1):c.1071G>A:p.Trp357Ter	coding	Pathogenic
3	177038373	C	T	C177038373T	TBL1XR1	NM_024665.7(TBL1XR1):c.987G>A:p.Met329Ile	coding	Pathogenic
3	177045959	T	C	T177045959C	TBL1XR1	NM_024665.7(TBL1XR1):c.925+170A>G	noncoding	Benign
3	177046208	G	A	G177046208A	TBL1XR1	NM_024665.7(TBL1XR1):c.865-19C>T	noncoding	Benign
3	177047307	A	C	A177047307C	TBL1XR1	NM_024665.7(TBL1XR1):c.857T>G:p.Val286Gly	coding	Pathogenic
3	177047319	A	G	A177047319G	TBL1XR1	NM_024665.7(TBL1XR1):c.845T>C:p.Leu282Pro	coding	Pathogenic
3	177049863	C	T	C177049863T	TBL1XR1	NM_024665.7(TBL1XR1):c.702+134G>A	noncoding	Benign
3	177050093	G	A	G177050093A	TBL1XR1	NM_024665.7(TBL1XR1):c.606C>T:p.Ser202=	coding	Benign
3	177051306	T	A	T177051306A	TBL1XR1	NM_024665.7(TBL1XR1):c.427+198A>T	noncoding	Benign
3	177051705	G	A	G177051705A	TBL1XR1	NM_024665.7(TBL1XR1):c.226C>T:p.Arg76Ter	coding	Pathogenic/Likely_pathogenic
3	177051733	T	C	T177051733C	TBL1XR1	NM_024665.7(TBL1XR1):c.205-7A>G	noncoding	Pathogenic
3	177051820	G	A	G177051820A	TBL1XR1	NM_024665.7(TBL1XR1):c.205-94C>T	noncoding	Benign
3	177053931	G	C	G177053931C	TBL1XR1	NM_024665.7(TBL1XR1):c.59-13C>G	noncoding	Benign
3	177054059	T	C	T177054059C	TBL1XR1	NM_024665.7(TBL1XR1):c.59-141A>G	noncoding	Benign
3	177054061	T	C	T177054061C	TBL1XR1	NM_024665.7(TBL1XR1):c.59-143A>G	noncoding	Benign
3	177054063	T	C	T177054063C	TBL1XR1	NM_024665.7(TBL1XR1):c.59-145A>G	noncoding	Benign
3	177054065	T	C	T177054065C	TBL1XR1	NM_024665.7(TBL1XR1):c.59-147A>G	noncoding	Benign
3	177054073	T	C	T177054073C	TBL1XR1	NM_024665.7(TBL1XR1):c.59-155A>G	noncoding	Benign
3	177064918	A	G	A177064918G	TBL1XR1	NM_024665.7(TBL1XR1):c.58+2T>C	noncoding	Pathogenic
3	177065367	A	G	A177065367G	TBL1XR1	NM_024665.7(TBL1XR1):c.-45-345T>C	noncoding	Benign
3	178842793	A	C	A178842793C	KCNMB2	NM_181361.3(KCNMB2):c.564A>C:p.Thr188=	coding	Benign
3	179198547	G	T	G179198547T	PIK3CA	NM_006218.4(PIK3CA):c.-76-203G>T	noncoding	Benign
3	179199066	G	A	G179199066A	PIK3CA	NM_006218.4(PIK3CA):c.241G>A:p.Glu81Lys	coding	Pathogenic
3	179199096	G	A	G179199096A	PIK3CA	NM_006218.4(PIK3CA):c.271G>A:p.Asp91Asn	coding	Pathogenic
3	179199102	C	T	C179199102T	PIK3CA	NM_006218.4(PIK3CA):c.277C>T:p.Arg93Trp	coding	Pathogenic/Likely_pathogenic
3	179199136	C	T	C179199136T	PIK3CA	NM_006218.4(PIK3CA):c.311C>T:p.Pro104Leu	coding	Pathogenic/Likely_pathogenic
3	179199169	G	T	G179199169T	PIK3CA	NM_006218.4(PIK3CA):c.344G>T:p.Arg115Leu	coding	Pathogenic
3	179203370	G	A	G179203370A	PIK3CA	NM_006218.4(PIK3CA):c.814-174G>A	noncoding	Benign
3	179203764	A	C	A179203764C	PIK3CA	NM_006218.4(PIK3CA):c.1034A>C:p.Asn345Thr	coding	Pathogenic
3	179203851	C	A	C179203851A	PIK3CA	NM_006218.4(PIK3CA):c.1059+62C>A	noncoding	Benign
3	179203959	C	A	C179203959A	PIK3CA	NM_006218.4(PIK3CA):c.1059+170C>A	noncoding	Benign
3	179204434	G	T	G179204434T	PIK3CA	NM_006218.4(PIK3CA):c.1060-69G>T	noncoding	Benign
3	179204568	A	G	A179204568G	PIK3CA	NM_006218.4(PIK3CA):c.1125A>G:p.Arg375=	coding	Benign/Likely_benign
3	179204575	T	C	T179204575C	PIK3CA	NM_006218.4(PIK3CA):c.1132T>C:p.Cys378Arg	coding	Pathogenic
3	179204642	A	G	A179204642G	PIK3CA	NM_006218.4(PIK3CA):c.1145+54A>G	noncoding	Benign
3	179209323	C	A	C179209323A	PIK3CA	NM_006218.4(PIK3CA):c.1146-272C>A	noncoding	Benign
3	179209361	T	C	T179209361C	PIK3CA	NM_006218.4(PIK3CA):c.1146-234T>C	noncoding	Benign
3	179209557	T	C	T179209557C	PIK3CA	NM_006218.4(PIK3CA):c.1146-38T>C	noncoding	Benign
3	179209565	G	A	G179209565A	PIK3CA	NM_006218.4(PIK3CA):c.1146-30G>A	noncoding	Benign/Likely_benign
3	179210279	C	A	C179210279A	PIK3CA	NM_006218.4(PIK3CA):c.1345C>A:p.Pro449Thr	coding	Pathogenic/Likely_pathogenic
3	179210279	C	T	C179210279T	PIK3CA	NM_006218.4(PIK3CA):c.1345C>T:p.Pro449Ser	coding	Pathogenic/Likely_pathogenic
3	179218011	T	C	T179218011C	PIK3CA	NM_006218.4(PIK3CA):c.1540-199T>C	noncoding	Benign
3	179218155	C	T	C179218155T	PIK3CA	NM_006218.4(PIK3CA):c.1540-55C>T	noncoding	Benign
3	179218439	T	G	T179218439G	PIK3CA	NM_006218.4(PIK3CA):c.1664+105T>G	noncoding	Benign
3	179219152	C	A	C179219152A	PIK3CA	NM_006218.4(PIK3CA):c.1665-44C>A	noncoding	Benign
3	179219319	T	C	T179219319C	PIK3CA	NM_006218.4(PIK3CA):c.1746+42T>C	noncoding	Benign
3	179219562	C	T	C179219562T	PIK3CA	NM_006218.4(PIK3CA):c.1747-9C>T	noncoding	Benign/Likely_benign
3	179219921	C	T	C179219921T	PIK3CA	NM_006218.4(PIK3CA):c.1912-28C>T	noncoding	Benign
3	179220089	A	G	A179220089G	PIK3CA	NM_006218.4(PIK3CA):c.2015+37A>G	noncoding	Benign
3	179220766	A	T	A179220766T	PIK3CA	NM_006218.4(PIK3CA):c.2016-220A>T	noncoding	Benign
3	179220959	A	T	A179220959T	PIK3CA	NM_006218.4(PIK3CA):c.2016-27A>T	noncoding	Benign
3	179221463	A	T	A179221463T	PIK3CA	NM_006218.4(PIK3CA):c.2187+306A>T	noncoding	Benign
3	179224060	C	T	C179224060T	PIK3CA	NM_006218.4(PIK3CA):c.2188-21C>T	noncoding	Benign
3	179224643	C	G	C179224643G	PIK3CA	NM_006218.4(PIK3CA):c.2295-57C>G	noncoding	Benign
3	179225926	G	A	G179225926A	PIK3CA	NM_006218.4(PIK3CA):c.2417-36G>A	noncoding	Benign
3	179226113	C	G	C179226113G	PIK3CA	NM_006218.4(PIK3CA):c.2495+73C>G	noncoding	Benign
3	179226184	G	T	G179226184T	PIK3CA	NM_006218.4(PIK3CA):c.2495+144G>T	noncoding	Benign
3	179229537	A	C	A179229537C	PIK3CA	NM_006218.4(PIK3CA):c.2666+95A>C	noncoding	Benign
3	179229896	G	C	G179229896C	PIK3CA	NM_006218.4(PIK3CA):c.2667-108G>C	noncoding	Benign
3	179230064	C	A	C179230064A	PIK3CA	NM_006218.4(PIK3CA):c.2727C>A:p.Phe909Leu	coding	Pathogenic
3	179230256	A	G	A179230256G	PIK3CA	NM_006218.4(PIK3CA):c.2816A>G:p.Asp939Gly	coding	Pathogenic/Likely_pathogenic
3	179230408	A	G	A179230408G	PIK3CA	NM_006218.4(PIK3CA):c.2936+32A>G	noncoding	Benign
3	179234169	G	A	G179234169A	PIK3CA	NM_006218.4(PIK3CA):c.3012G>A:p.Met1004Ile	coding	Pathogenic/Likely_pathogenic
3	179234218	T	C	T179234218C	PIK3CA	NM_006218.4(PIK3CA):c.3061T>C:p.Tyr1021His	coding	Pathogenic
3	179234219	A	G	A179234219G	PIK3CA	NM_006218.4(PIK3CA):c.3062A>G:p.Tyr1021Cys	coding	Pathogenic
3	179234261	C	T	C179234261T	PIK3CA	NM_006218.4(PIK3CA):c.3104C>T:p.Ala1035Val	coding	Pathogenic
3	179234302	G	A	G179234302A	PIK3CA	NM_006218.4(PIK3CA):c.3145G>A:p.Gly1049Ser	coding	Pathogenic
3	179234393	T	C	T179234393C	PIK3CA	NM_006218.4(PIK3CA):c.*29T>C	noncoding	Benign
3	179250846	C	T	C179250846T	KCNMB3	NM_171830.2(KCNMB3):c.145G>A:p.Ala49Thr	coding	Benign
3	179401512	G	A	G179401512A	GNB4	NM_021629.4(GNB4):c.917-193C>T	noncoding	Benign
3	179401585	C	T	C179401585T	GNB4	NM_021629.4(GNB4):c.917-266G>A	noncoding	Benign
3	179401611	A	G	A179401611G	GNB4	NM_021629.4(GNB4):c.917-292T>C	noncoding	Benign
3	179404919	C	G	C179404919G	GNB4	NM_021629.4(GNB4):c.916+271G>C	noncoding	Benign
3	179405130	T	C	T179405130C	GNB4	NM_021629.4(GNB4):c.916+60A>G	noncoding	Benign
3	179413443	G	A	G179413443A	GNB4	NM_021629.4(GNB4):c.668C>T:p.Thr223Met	coding	Benign/Likely_benign
3	179413864	A	T	A179413864T	GNB4	NM_021629.4(GNB4):c.431-83T>A	noncoding	Benign
3	179414878	A	C	A179414878C	GNB4	NM_021629.4(GNB4):c.430+7T>G	noncoding	Benign
3	179416623	T	C	T179416623C	GNB4	NM_021629.4(GNB4):c.204-67A>G	noncoding	Benign
3	179416846	G	C	G179416846C	GNB4	NM_021629.4(GNB4):c.204-290C>G	noncoding	Benign
3	179419311	T	C	T179419311C	GNB4	NM_021629.4(GNB4):c.203+88A>G	noncoding	Benign
3	179419314	T	C	T179419314C	GNB4	NM_021629.4(GNB4):c.203+85A>G	noncoding	Benign
3	179419386	G	C	G179419386C	GNB4	NM_021629.4(GNB4):c.203+13C>G	noncoding	Benign
3	179420755	G	A	G179420755A	GNB4	NM_021629.4(GNB4):c.96+134C>T	noncoding	Benign
3	179421196	A	G	A179421196G	GNB4	NM_021629.4(GNB4):c.58-269T>C	noncoding	Benign
3	179426195	G	A	G179426195A	GNB4	NM_021629.4(GNB4):c.6C>T:p.Ser2=	coding	Benign
3	179426233	G	A	G179426233A	GNB4	NM_021629.4(GNB4):c.-33C>T	noncoding	Benign
3	179426652	A	T	A179426652T	GNB4	NM_021629.4(GNB4):c.-42-410T>A	noncoding	Benign
3	179576721	T	A	T179576721A	ACTL6A	NM_004301.5(ACTL6A):c.673T>A:p.Ser225Thr	coding	Benign
3	179581211	C	T	C179581211T	ACTL6A	NM_004301.5(ACTL6A):c.1017C>T:p.Asp339=	coding	Benign
3	180615203	G	A	G180615203A	CCDC39	NM_181426.2(CCDC39):c.2670-126C>T	noncoding	Benign
3	180616088	G	C	G180616088C	CCDC39	NM_181426.2(CCDC39):c.2669+193C>G	noncoding	Benign
3	180616515	C	T	C180616515T	CCDC39	NM_181426.2(CCDC39):c.2586+1G>A	noncoding	Pathogenic
3	180616882	G	A	G180616882A	CCDC39	NM_181426.2(CCDC39):c.2350C>T:p.Gln784Ter	coding	Pathogenic
3	180616897	G	A	G180616897A	CCDC39	NM_181426.2(CCDC39):c.2335C>T:p.Gln779Ter	coding	Pathogenic
3	180619952	C	A	C180619952A	CCDC39	NM_181426.2(CCDC39):c.2017G>T:p.Glu673Ter	coding	Pathogenic
3	180619972	T	A	T180619972A	CCDC39	NM_181426.2(CCDC39):c.1999-2A>T	noncoding	Pathogenic
3	180631177	G	A	G180631177A	CCDC39	NM_181426.2(CCDC39):c.1998+292C>T	noncoding	Benign
3	180646888	G	A	G180646888A	CCDC39	NM_181426.2(CCDC39):c.1527+191C>T	noncoding	Benign
3	180647885	T	G	T180647885G	CCDC39	NM_181426.2(CCDC39):c.1362+280A>C	noncoding	Benign
3	180648391	T	C	T180648391C	CCDC39	NM_181426.2(CCDC39):c.1168-32A>G	noncoding	Benign
3	180649957	G	A	G180649957A	CCDC39	NM_181426.2(CCDC39):c.1167+1444C>T	noncoding	Benign
3	180650077	A	C	A180650077C	CCDC39	NM_181426.2(CCDC39):c.1167+1324T>G	noncoding	Benign
3	180650099	C	A	C180650099A	CCDC39	NM_181426.2(CCDC39):c.1167+1302G>T	noncoding	Benign
3	180650465	G	A	G180650465A	CCDC39	NM_181426.2(CCDC39):c.1167+936C>T	noncoding	Benign
3	180650466	T	G	T180650466G	CCDC39	NM_181426.2(CCDC39):c.1167+935A>C	noncoding	Benign
3	180651962	A	G	A180651962G	CCDC39	NM_181426.2(CCDC39):c.1034+201T>C	noncoding	Benign
3	180652325	C	A	C180652325A	CCDC39	NM_181426.2(CCDC39):c.931-59G>T	noncoding	Benign
3	180654667	T	C	T180654667C	CCDC39	NM_181426.2(CCDC39):c.930+95A>G	noncoding	Benign
3	180659257	A	C	A180659257C	CCDC39	NM_181426.2(CCDC39):c.738+195T>G	noncoding	Benign
3	180659283	C	T	C180659283T	CCDC39	NM_181426.2(CCDC39):c.738+169G>A	noncoding	Benign
3	180659683	G	A	G180659683A	CCDC39	NM_181426.2(CCDC39):c.603C>T:p.Ser201=	coding	Benign/Likely_benign
3	180660812	C	G	C180660812G	CCDC39	NM_181426.2(CCDC39):c.358-84G>C	noncoding	Benign
3	180661687	T	C	T180661687C	CCDC39	NM_181426.2(CCDC39):c.357+174A>G	noncoding	Benign
3	180661941	C	A	C180661941A	CCDC39	NM_181426.2(CCDC39):c.277G>T:p.Glu93Ter	coding	Pathogenic
3	180662063	C	A	C180662063A	CCDC39	NM_181426.2(CCDC39):c.211-56G>T	noncoding	Benign
3	180664241	T	G	T180664241G	CCDC39	NM_181426.2(CCDC39):c.91-255A>C	noncoding	Benign
3	180664317	A	G	A180664317G	CCDC39	NM_181426.2(CCDC39):c.91-331T>C	noncoding	Benign
3	180679186	G	A	G180679186A	CCDC39	NM_181426.2(CCDC39):c.90+105C>T	noncoding	Benign
3	180679648	C	G	C180679648G	CCDC39	Single_allele	noncoding	Benign
3	180984452	C	T	C180984452T	DNAJC19	NM_145261.4(DNAJC19):c.*188G>A	noncoding	Benign
3	180988357	T	C	T180988357C	DNAJC19	NM_145261.4(DNAJC19):c.4-128A>G	noncoding	Benign
3	181712324	C	T	C181712324T	SOX2	NM_003106.4(SOX2):c.-37C>T	noncoding	Benign
3	181712516	C	A	C181712516A	SOX2	NM_003106.4(SOX2):c.156C>A:p.Ser52=	coding	Benign
3	181712689	A	C	A181712689C	SOX2	NM_003106.4(SOX2):c.329A>C:p.Tyr110Ser	coding	Pathogenic
3	181712857	G	A	G181712857A	SOX2	NM_003106.4(SOX2):c.497G>A:p.Trp166Ter	coding	Pathogenic
3	181712858	G	A	G181712858A	SOX2	NM_003106.4(SOX2):c.498G>A:p.Trp166Ter	coding	Pathogenic
3	181712873	C	G	C181712873G	SOX2	NM_003106.4(SOX2):c.513C>G:p.Tyr171Ter	coding	Pathogenic
3	181712920	A	G	A181712920G	SOX2	NM_003106.4(SOX2):c.560A>G:p.Asn187Ser	coding	Benign
3	181713221	C	G	C181713221G	SOX2	NM_003106.4(SOX2):c.861C>G:p.Ala287=	coding	Benign
3	181713336	G	A	G181713336A	SOX2	NM_003106.4(SOX2):c.*22G>A	noncoding	Benign
3	181713783	C	A	C181713783A	SOX2	NM_003106.4(SOX2):c.*469C>A	noncoding	Benign
3	181713871	G	A	G181713871A	SOX2	NM_003106.4(SOX2):c.*557G>A	noncoding	Benign
3	183017394	C	A	C183017394A	MCCC1	NM_020166.5(MCCC1):c.1978-57G>T	noncoding	Benign
3	183017423	T	G	T183017423G	MCCC1	NM_020166.5(MCCC1):c.1978-86A>C	noncoding	Benign
3	183017531	G	T	G183017531T	MCCC1	NM_020166.5(MCCC1):c.1978-194C>A	noncoding	Benign
3	183020036	A	C	A183020036C	MCCC1	NM_020166.5(MCCC1):c.1977+94T>G	noncoding	Benign
3	183020199	G	C	G183020199C	MCCC1	NM_020166.5(MCCC1):c.1908C>G:p.Tyr636Ter	coding	Pathogenic
3	183020371	A	G	A183020371G	MCCC1	NM_020166.5(MCCC1):c.1870-134T>C	noncoding	Benign
3	183022162	T	C	T183022162C	MCCC1	NM_020166.5(MCCC1):c.1869+255A>G	noncoding	Benign
3	183022762	A	G	A183022762G	MCCC1	NM_020166.5(MCCC1):c.1732-208T>C	noncoding	Benign
3	183033914	G	A	G183033914A	MCCC1	NM_020166.5(MCCC1):c.1681+77C>T	noncoding	Benign
3	183034021	T	A	T183034021A	MCCC1	NM_020166.5(MCCC1):c.1651A>T:p.Arg551Ter	coding	Pathogenic
3	183034177	A	G	A183034177G	MCCC1	NM_020166.5(MCCC1):c.1595-100T>C	noncoding	Benign
3	183039070	G	A	G183039070A	MCCC1	NM_020166.5(MCCC1):c.1333C>T:p.Gln445Ter	coding	Pathogenic
3	183039072	C	T	C183039072T	MCCC1	NM_020166.5(MCCC1):c.1331G>A:p.Arg444His	coding	Pathogenic
3	183039137	T	C	T183039137C	MCCC1	NM_020166.5(MCCC1):c.1268-2A>G	noncoding	Pathogenic
3	183039296	G	A	G183039296A	MCCC1	NM_020166.5(MCCC1):c.1268-161C>T	noncoding	Benign
3	183041309	C	T	C183041309T	MCCC1	NM_020166.5(MCCC1):c.1267+258G>A	noncoding	Benign
3	183041570	G	A	G183041570A	MCCC1	NM_020166.5(MCCC1):c.1264C>T:p.Gln422Ter	coding	Pathogenic
3	183041629	A	C	A183041629C	MCCC1	NM_020166.5(MCCC1):c.1205T>G:p.Leu402Ter	coding	Pathogenic
3	183041702	G	A	G183041702A	MCCC1	NM_020166.5(MCCC1):c.1132C>T:p.Gln378Ter	coding	Pathogenic
3	183045422	C	T	C183045422T	MCCC1	NM_020166.5(MCCC1):c.1074G>A:p.Trp358Ter	coding	Pathogenic
3	183045864	C	A	C183045864A	MCCC1	NM_020166.5(MCCC1):c.956-324G>T	noncoding	Benign
3	183057604	T	A	T183057604A	MCCC1	NM_020166.5(MCCC1):c.762-182A>T	noncoding	Benign
3	183071084	C	A	C183071084A	MCCC1	NM_020166.5(MCCC1):c.676G>T:p.Glu226Ter	coding	Pathogenic/Likely_pathogenic
3	183071310	C	A	C183071310A	MCCC1	NM_020166.5(MCCC1):c.539G>T:p.Gly180Val	coding	Pathogenic
3	183071483	C	T	C183071483T	MCCC1	NM_020166.5(MCCC1):c.492-126G>A	noncoding	Benign
3	183072742	C	A	C183072742A	MCCC1	NM_020166.5(MCCC1):c.370-255G>T	noncoding	Benign
3	183086597	G	A	G183086597A	MCCC1	NM_020166.5(MCCC1):c.369+96C>T	noncoding	Benign
3	183086749	G	A	G183086749A	MCCC1	NM_020166.5(MCCC1):c.313C>T:p.Gln105Ter	coding	Pathogenic
3	183086752	G	A	G183086752A	MCCC1	NM_020166.5(MCCC1):c.310C>T:p.Gln104Ter	coding	Pathogenic
3	183094572	G	T	G183094572T	MCCC1	NM_020166.5(MCCC1):c.123C>A:p.Tyr41Ter	coding	Pathogenic
3	183099310	C	T	C183099310T	MCCC1	NM_020166.5(MCCC1):c.89+42G>A	noncoding	Benign
3	183099917	C	A	C183099917A	MCCC1	Single_allele	noncoding	Benign
3	183650149	T	C	T183650149C	KLHL24	NM_017644.3(KLHL24):c.-61-147T>C	noncoding	Benign
3	183650217	G	A	G183650217A	KLHL24	NM_017644.3(KLHL24):c.-61-79G>A	noncoding	Benign
3	183650369	T	C	T183650369C	KLHL24	NM_017644.3(KLHL24):c.13T>C:p.Leu5=	coding	Benign
3	183650428	A	T	A183650428T	KLHL24	NM_017644.3(KLHL24):c.72A>T:p.Arg24=	coding	Benign
3	183650938	T	A	T183650938A	KLHL24	NM_017644.3(KLHL24):c.582T>A:p.Thr194=	coding	Benign
3	183650946	A	C	A183650946C	KLHL24	NM_017644.3(KLHL24):c.590A>C:p.Asp197Ala	coding	Benign
3	183650959	C	T	C183650959T	KLHL24	NM_017644.3(KLHL24):c.603C>T:p.His201=	coding	Benign
3	183651103	C	T	C183651103T	KLHL24	NM_017644.3(KLHL24):c.747C>T:p.His249=	coding	Benign
3	183651202	T	C	T183651202C	KLHL24	NM_017644.3(KLHL24):c.846T>C:p.Tyr282=	coding	Benign
3	183651536	A	C	A183651536C	KLHL24	NM_017644.3(KLHL24):c.920+260A>C	noncoding	Benign
3	183663196	T	A	T183663196A	KLHL24	NM_017644.3(KLHL24):c.921-262T>A	noncoding	Benign
3	183663236	G	C	G183663236C	KLHL24	NM_017644.3(KLHL24):c.921-222G>C	noncoding	Benign
3	183663285	C	G	C183663285G	KLHL24	NM_017644.3(KLHL24):c.921-173C>G	noncoding	Benign
3	183665049	A	T	A183665049T	KLHL24	NM_017644.3(KLHL24):c.1224+10A>T	noncoding	Benign
3	183670738	G	A	G183670738A	KLHL24	NM_017644.3(KLHL24):c.1225-296G>A	noncoding	Benign
3	183672138	G	A	G183672138A	KLHL24	NM_017644.3(KLHL24):c.1414-158G>A	noncoding	Benign
3	183672242	T	C	T183672242C	KLHL24	NM_017644.3(KLHL24):c.1414-54T>C	noncoding	Benign
3	183678923	C	T	C183678923T	KLHL24	NM_017644.3(KLHL24):c.1603-163C>T	noncoding	Benign
3	183679445	A	G	A183679445G	KLHL24	NM_017644.3(KLHL24):c.*159A>G	noncoding	Benign
3	183721864	T	C	T183721864C	YEATS2	NM_018023.5(YEATS2):c.292-27T>C	noncoding	Benign
3	183758897	G	A	G183758897A	YEATS2	NM_018023.5(YEATS2):c.1588G>A:p.Val530Ile	coding	Benign
3	183803345	A	G	A183803345G	YEATS2	NM_018023.5(YEATS2):c.3582+10A>G	noncoding	Benign
3	183967746	A	G	A183967746G	ABCC5	NM_005688.4(ABCC5):c.1782T>C:p.Cys594=	coding	Benign
3	184100628	G	A	G184100628A	HTR3E	NM_001256613.2(HTR3E):c.211G>A:p.Ala71Thr	coding	Benign
3	184134987	C	A	C184134987A	EIF2B5	Single_allele	noncoding	Benign
3	184136530	G	T	G184136530T	EIF2B5	NM_003907.3(EIF2B5):c.196-82G>T	noncoding	Benign
3	184136619	T	C	T184136619C	EIF2B5	NM_003907.3(EIF2B5):c.203T>C:p.Leu68Ser	coding	Pathogenic
3	184136734	A	T	A184136734T	EIF2B5	NM_003907.3(EIF2B5):c.318A>T:p.Leu106Phe	coding	Pathogenic/Likely_pathogenic
3	184137660	C	T	C184137660T	EIF2B5	NM_003907.3(EIF2B5):c.361C>T:p.Arg121Ter	coding	Pathogenic
3	184137705	C	T	C184137705T	EIF2B5	NM_003907.3(EIF2B5):c.406C>T:p.Arg136Cys	coding	Pathogenic
3	184137936	C	T	C184137936T	EIF2B5	NM_003907.3(EIF2B5):c.545C>T:p.Thr182Met	coding	Pathogenic/Likely_pathogenic
3	184140113	C	T	C184140113T	EIF2B5	NM_003907.3(EIF2B5):c.799C>T:p.Gln267Ter	coding	Pathogenic
3	184140119	C	T	C184140119T	EIF2B5	NM_003907.3(EIF2B5):c.805C>T:p.Arg269Ter	coding	Pathogenic
3	184140134	C	T	C184140134T	EIF2B5	NM_003907.3(EIF2B5):c.820C>T:p.Arg274Ter	coding	Pathogenic
3	184140463	G	A	G184140463A	EIF2B5	NM_003907.3(EIF2B5):c.889G>A:p.Gly297Ser	coding	Pathogenic
3	184140470	G	A	G184140470A	EIF2B5	NM_003907.3(EIF2B5):c.896G>A:p.Arg299His	coding	Pathogenic/Likely_pathogenic
3	184140487	A	T	A184140487T	EIF2B5	NM_003907.3(EIF2B5):c.913A>T:p.Met305Leu	coding	Pathogenic/Likely_pathogenic
3	184140520	C	T	C184140520T	EIF2B5	NM_003907.3(EIF2B5):c.946C>T:p.Arg316Ter	coding	Pathogenic
3	184140927	T	C	T184140927C	EIF2B5	NM_003907.3(EIF2B5):c.1156+197T>C	noncoding	Benign
3	184141969	C	T	C184141969T	EIF2B5	NM_003907.3(EIF2B5):c.1201C>T:p.Arg401Ter	coding	Pathogenic
3	184141976	C	T	C184141976T	EIF2B5	NM_003907.3(EIF2B5):c.1208C>T:p.Ala403Val	coding	Pathogenic/Likely_pathogenic
3	184142057	T	C	T184142057C	EIF2B5	NM_003907.3(EIF2B5):c.1289T>C:p.Val430Ala	coding	Pathogenic
3	184142542	C	G	C184142542G	EIF2B5	NM_003907.3(EIF2B5):c.1485C>G:p.Tyr495Ter	coding	Pathogenic
3	184143276	A	G	A184143276G	EIF2B5	NM_003907.3(EIF2B5):c.1745+134A>G	noncoding	Benign
3	184143299	C	T	C184143299T	EIF2B5	NM_003907.3(EIF2B5):c.1746-143C>T	noncoding	Benign
3	184143962	A	C	A184143962C	EIF2B5	NM_003907.3(EIF2B5):c.1870-137A>C	noncoding	Benign
3	184144113	G	A	G184144113A	EIF2B5	NM_003907.3(EIF2B5):c.1884G>A:p.Trp628Ter	coding	Pathogenic
3	184155963	C	T	C184155963T	DVL3	NM_004423.4(DVL3):c.161+167C>T	noncoding	Benign
3	184163446	G	A	G184163446A	DVL3	NM_004423.4(DVL3):c.162-211G>A	noncoding	Benign
3	184163987	A	G	A184163987G	DVL3	NM_004423.4(DVL3):c.231+261A>G	noncoding	Benign
3	184164349	G	T	G184164349T	DVL3	NM_004423.4(DVL3):c.314G>T:p.Arg105Leu	coding	Benign
3	184164391	G	A	G184164391A	DVL3	NM_004423.4(DVL3):c.353+3G>A	noncoding	Benign
3	184164595	G	C	G184164595C	DVL3	NM_004423.4(DVL3):c.457G>C:p.Glu153Gln	coding	Benign
3	184164848	T	C	T184164848C	DVL3	NM_004423.4(DVL3):c.516T>C:p.Gly172=	coding	Benign
3	184165184	A	C	A184165184C	DVL3	NM_004423.4(DVL3):c.671A>C:p.Gln224Pro	coding	Benign
3	184165219	G	A	G184165219A	DVL3	NM_004423.4(DVL3):c.693+13G>A	noncoding	Benign
3	184166762	T	C	T184166762C	DVL3	NM_004423.4(DVL3):c.1049-64T>C	noncoding	Benign
3	184166800	C	G	C184166800G	DVL3	NM_004423.4(DVL3):c.1049-26C>G	noncoding	Benign
3	184166992	G	A	G184166992A	DVL3	NM_004423.4(DVL3):c.1198+17G>A	noncoding	Benign
3	184167107	C	T	C184167107T	DVL3	NM_004423.4(DVL3):c.1198+132C>T	noncoding	Benign
3	184167572	A	C	A184167572C	DVL3	NM_004423.4(DVL3):c.1199-8A>C	noncoding	Benign
3	184167944	G	A	G184167944A	DVL3	NM_004423.4(DVL3):c.1377G>A:p.Thr459=	coding	Benign
3	184168352	C	T	C184168352T	DVL3	NM_004423.4(DVL3):c.1498+287C>T	noncoding	Benign
3	184170227	G	A	G184170227A	DVL3	NM_004423.4(DVL3):c.1714+6G>A	noncoding	Benign
3	184177035	G	C	G184177035C	AP2M1	NM_004068.4(AP2M1):c.42G>C:p.Val14=	coding	Benign
3	184178838	A	G	A184178838G	AP2M1	NM_004068.4(AP2M1):c.75-19A>G	noncoding	Benign
3	184178853	T	C	T184178853C	AP2M1	NM_004068.4(AP2M1):c.75-4T>C	coding	Benign
3	184178863	C	T	C184178863T	AP2M1	NM_004068.4(AP2M1):c.81C>T:p.Asn27=	coding	Benign
3	184179019	C	T	C184179019T	AP2M1	NM_004068.4(AP2M1):c.237C>T:p.Phe79=	coding	Benign
3	184179043	C	T	C184179043T	AP2M1	NM_004068.4(AP2M1):c.261C>T:p.Asp87=	coding	Benign
3	184179133	C	T	C184179133T	AP2M1	NM_004068.4(AP2M1):c.340+11C>T	noncoding	Benign
3	184179178	G	A	G184179178A	AP2M1	NM_004068.4(AP2M1):c.340+56G>A	noncoding	Benign
3	184180224	C	T	C184180224T	AP2M1	NM_004068.4(AP2M1):c.396C>T:p.Phe132=	coding	Benign
3	184180255	C	T	C184180255T	AP2M1	NM_004068.4(AP2M1):c.423+4C>T	noncoding	Benign
3	184180857	A	G	A184180857G	AP2M1	NM_004068.4(AP2M1):c.438A>G:p.Glu146=	coding	Benign
3	184181001	G	A	G184181001A	AP2M1	NM_004068.4(AP2M1):c.565+17G>A	noncoding	Benign
3	184181092	G	A	G184181092A	AP2M1	NM_004068.4(AP2M1):c.573G>A:p.Val191=	coding	Benign
3	184181282	G	T	G184181282T	AP2M1	NM_004068.4(AP2M1):c.707+56G>T	noncoding	Benign
3	184182044	C	T	C184182044T	AP2M1	NM_004068.4(AP2M1):c.960C>T:p.Ile320=	coding	Benign
3	184182050	G	A	G184182050A	AP2M1	NM_004068.4(AP2M1):c.963+3G>A	noncoding	Benign
3	184182057	G	A	G184182057A	AP2M1	NM_004068.4(AP2M1):c.963+10G>A	noncoding	Benign
3	184182941	T	C	T184182941C	AP2M1	NM_004068.4(AP2M1):c.1173+73T>C	noncoding	Benign
3	184183490	C	T	C184183490T	AP2M1	NM_004068.4(AP2M1):c.1182C>T:p.Phe394=	coding	Benign
3	184183493	G	A	G184183493A	AP2M1	NM_004068.4(AP2M1):c.1185G>A:p.Ala395=	coding	Benign
3	184183601	T	C	T184183601C	AP2M1	NM_004068.4(AP2M1):c.1293T>C:p.Tyr431=	coding	Benign/Likely_benign
3	184242813	C	G	C184242813G	ALG3	NM_005787.6(ALG3):c.1154G>C:p.Arg385Thr	coding	Pathogenic
3	184243366	C	T	C184243366T	ALG3	NM_005787.6(ALG3):c.1009+188G>A	noncoding	Benign
3	184243392	C	A	C184243392A	ALG3	NM_005787.6(ALG3):c.1009+162G>T	noncoding	Benign
3	184243927	G	A	G184243927A	ALG3	NM_005787.6(ALG3):c.796C>T:p.Arg266Cys	coding	Pathogenic
3	184243974	A	T	A184243974T	ALG3	NM_005787.6(ALG3):c.749T>A:p.Leu250Gln	coding	Pathogenic
3	184244671	A	G	A184244671G	ALG3	NM_005787.6(ALG3):c.656T>C:p.Leu219Pro	coding	Pathogenic
3	184244716	G	A	G184244716A	ALG3	NM_005787.6(ALG3):c.611C>T:p.Ala204Val	coding	Pathogenic
3	184245563	G	A	G184245563A	ALG3	NM_005787.6(ALG3):c.349C>T:p.Arg117Ter	coding	Pathogenic
3	184248869	C	T	C184248869T	ALG3	NM_005787.6(ALG3):c.72G>A:p.Trp24Ter	coding	Pathogenic
3	184248939	A	G	A184248939G	ALG3	NM_005787.6(ALG3):c.2T>C:p.Met1Thr	coding	Pathogenic
3	184315558	T	A	T184315558A	EIF4G1	NM_198241.3(EIF4G1):c.-35+13T>A	noncoding	Benign
3	184315620	A	T	A184315620T	EIF4G1	NM_198241.3(EIF4G1):c.-35+75A>T	noncoding	Benign
3	184317604	T	A	T184317604A	EIF4G1	NM_198241.3(EIF4G1):c.324+107T>A	noncoding	Benign
3	184317660	G	A	G184317660A	EIF4G1	NM_198241.3(EIF4G1):c.325-57G>A	noncoding	Benign
3	184319745	A	G	A184319745G	EIF4G1	NM_198241.3(EIF4G1):c.481A>G:p.Thr161Ala	coding	Benign
3	184319928	T	G	T184319928G	EIF4G1	NM_198241.3(EIF4G1):c.537+127T>G	noncoding	Benign
3	184321086	A	T	A184321086T	EIF4G1	NM_198241.3(EIF4G1):c.697+93A>T	noncoding	Benign
3	184321181	C	T	C184321181T	EIF4G1	NM_198241.3(EIF4G1):c.698-101C>T	noncoding	Benign
3	184321516	A	G	A184321516G	EIF4G1	NM_198241.3(EIF4G1):c.932A>G:p.Tyr311Cys	coding	Benign
3	184322149	C	G	C184322149G	EIF4G1	NM_198241.3(EIF4G1):c.1519+46C>G	noncoding	Benign
3	184323711	C	G	C184323711G	EIF4G1	NM_198241.3(EIF4G1):c.2275-69C>G	noncoding	Benign
3	184324183	A	G	A184324183G	EIF4G1	NM_198241.3(EIF4G1):c.2473-18A>G	noncoding	Benign
3	184327622	T	C	T184327622C	EIF4G1	NM_198241.3(EIF4G1):c.3698T>C:p.Leu1233Pro	coding	Benign
3	184328254	A	G	A184328254G	EIF4G1	NM_198241.3(EIF4G1):c.3953+252A>G	noncoding	Benign
3	184328314	C	G	C184328314G	EIF4G1	NM_198241.3(EIF4G1):c.3953+312C>G	noncoding	Benign
3	184328567	C	T	C184328567T	EIF4G1	NM_198241.3(EIF4G1):c.3954-64C>T	noncoding	Benign
3	184328682	C	T	C184328682T	EIF4G1	NM_198241.3(EIF4G1):c.4005C>T:p.His1335=	coding	Benign
3	184331355	C	T	C184331355T	EIF4G1	NM_198241.3(EIF4G1):c.4251C>T:p.Val1417=	coding	Benign
3	184331597	C	T	C184331597T	EIF4G1	NM_198241.3(EIF4G1):c.4386C>T:p.Asp1462=	coding	Benign/Likely_benign
3	184334546	G	A	G184334546A	EIF4G1	NM_198241.3(EIF4G1):c.4619-181G>A	noncoding	Benign
3	184347128	C	A	C184347128A	CLCN2	NM_004366.6(CLCN2):c.2416-107G>T	noncoding	Benign
3	184351866	G	A	G184351866A	CLCN2	NM_004366.6(CLCN2):c.2415+147C>T	noncoding	Benign
3	184352887	A	G	A184352887G	CLCN2	NM_004366.6(CLCN2):c.2144-77T>C	noncoding	Benign
3	184353114	G	A	G184353114A	CLCN2	NM_004366.6(CLCN2):c.2062C>T:p.Arg688Trp	coding	Benign/Likely_benign
3	184353229	G	A	G184353229A	CLCN2	NM_004366.6(CLCN2):c.2028+21C>T	noncoding	Benign
3	184353231	T	C	T184353231C	CLCN2	NM_004366.6(CLCN2):c.2028+19A>G	noncoding	Benign
3	184353275	G	C	G184353275C	CLCN2	NM_004366.6(CLCN2):c.2003C>G:p.Thr668Ser	coding	Benign
3	184353348	G	A	G184353348A	CLCN2	NM_004366.6(CLCN2):c.1930C>T:p.Arg644Cys	coding	Benign/Likely_benign
3	184354196	G	A	G184354196A	CLCN2	NM_004366.6(CLCN2):c.1626C>T:p.Asn542=	coding	Benign
3	184354669	G	C	G184354669C	CLCN2	NM_004366.6(CLCN2):c.1397-11C>G	noncoding	Benign
3	184354671	G	A	G184354671A	CLCN2	NM_004366.6(CLCN2):c.1397-13C>T	noncoding	Benign
3	184354844	G	C	G184354844C	CLCN2	NM_004366.6(CLCN2):c.1396+60C>G	noncoding	Benign
3	184355456	A	C	A184355456C	CLCN2	NM_004366.6(CLCN2):c.1244T>G:p.Leu415Arg	coding	Benign
3	184355763	C	T	C184355763T	CLCN2	NM_004366.6(CLCN2):c.1101G>A:p.Pro367=	coding	Benign
3	184355795	C	T	C184355795T	CLCN2	NM_004366.6(CLCN2):c.1086-17G>A	noncoding	Benign
3	184357259	A	G	A184357259G	CLCN2	NM_004366.6(CLCN2):c.906T>C:p.Ile302=	coding	Benign
3	184357666	G	A	G184357666A	CLCN2	NM_004366.6(CLCN2):c.726C>T:p.Ala242=	coding	Benign
3	184357875	G	A	G184357875A	CLCN2	NM_004366.6(CLCN2):c.616-19C>T	noncoding	Benign
3	184358170	C	T	C184358170T	CLCN2	NM_004366.6(CLCN2):c.481+12G>A	noncoding	Benign
3	184358992	C	T	C184358992T	CLCN2	NM_004366.6(CLCN2):c.203G>A:p.Arg68His	coding	Benign/Likely_benign
3	184372759	C	T	C184372759T	THPO	NM_000460.4(THPO):c.816G>A:p.Pro272=	coding	Benign
3	184373106	G	A	G184373106A	THPO	NM_000460.4(THPO):c.469C>T:p.Arg157Ter	coding	Pathogenic
3	184373361	G	T	G184373361T	THPO	NM_000460.4(THPO):c.396+54C>A	noncoding	Benign
3	184373738	C	T	C184373738T	THPO	NM_000460.4(THPO):c.229-156G>A	noncoding	Benign
3	184375252	G	A	G184375252A	THPO	NM_000460.4(THPO):c.228+263C>T	noncoding	Benign
3	184375318	T	C	T184375318C	THPO	NM_000460.4(THPO):c.228+197A>G	noncoding	Benign
3	184375620	G	T	G184375620T	THPO	NM_000460.4(THPO):c.142-19C>A	noncoding	Benign
3	184375739	C	T	C184375739T	THPO	NM_000460.4(THPO):c.142-138G>A	noncoding	Benign
3	184376246	C	G	C184376246G	THPO	NM_000460.4(THPO):c.13+1G>C	noncoding	Pathogenic
3	184376290	C	A	C184376290A	THPO	NM_000460.4(THPO):c.-31G>T	coding	Pathogenic
3	184378188	C	T	C184378188T	THPO	NM_000460.4(THPO):c.-259G>A	coding	Benign/Likely_benign
3	185192345	G	T	G185192345T	EHHADH	NM_001966.4(EHHADH):c.2053C>A:p.Gln685Lys	coding	Benign
3	185204159	G	A	G185204159A	EHHADH	NM_001966.4(EHHADH):c.910+257C>T	noncoding	Benign
3	185204506	C	T	C185204506T	EHHADH	NM_001966.4(EHHADH):c.820G>A:p.Ala274Thr	coding	Benign
3	185229207	C	T	C185229207T	EHHADH	NM_001966.4(EHHADH):c.463+225G>A	noncoding	Benign
3	185229424	A	G	A185229424G	EHHADH	NM_001966.4(EHHADH):c.463+8T>C	noncoding	Benign
3	185229634	A	G	A185229634G	EHHADH	NM_001966.4(EHHADH):c.352-91T>C	noncoding	Benign
3	185229838	T	C	T185229838C	EHHADH	NM_001966.4(EHHADH):c.352-295A>G	noncoding	Benign
3	185248282	C	T	C185248282T	EHHADH	NM_001966.4(EHHADH):c.178+132G>A	noncoding	Benign
3	185248636	A	C	A185248636C	EHHADH	NM_001966.4(EHHADH):c.75-119T>G	noncoding	Benign
3	185248770	T	G	T185248770G	EHHADH	NM_001966.4(EHHADH):c.75-253A>C	noncoding	Benign
3	185248796	C	T	C185248796T	EHHADH	NM_001966.4(EHHADH):c.75-279G>A	noncoding	Benign
3	185248850	T	C	T185248850C	EHHADH	NM_001966.4(EHHADH):c.75-333A>G	noncoding	Benign
3	185253720	G	A	G185253720A	EHHADH	NM_001966.4(EHHADH):c.74+229C>T	noncoding	Benign
3	185508608	A	G	A185508608G	LIPH	NM_139248.3(LIPH):c.*182T>C	noncoding	Benign
3	185508704	C	T	C185508704T	LIPH	NM_139248.3(LIPH):c.*86G>A	noncoding	Benign
3	185511676	T	C	T185511676C	LIPH	NM_139248.3(LIPH):c.1116A>G:p.Lys372=	coding	Benign
3	185511969	C	T	C185511969T	LIPH	NM_139248.3(LIPH):c.1095-272G>A	noncoding	Benign
3	185514381	G	A	G185514381A	LIPH	NM_139248.3(LIPH):c.1094+29C>T	noncoding	Benign
3	185514861	T	C	T185514861C	LIPH	NM_139248.3(LIPH):c.983-340A>G	noncoding	Benign
3	185517333	A	G	A185517333G	LIPH	NM_139248.3(LIPH):c.887-171T>C	noncoding	Benign
3	185517438	G	T	G185517438T	LIPH	NM_139248.3(LIPH):c.887-276C>A	noncoding	Benign
3	185519615	T	C	T185519615C	LIPH	NM_139248.3(LIPH):c.719-306A>G	noncoding	Benign
3	185524424	G	A	G185524424A	LIPH	NM_139248.3(LIPH):c.629-264C>T	noncoding	Benign
3	185524440	C	T	C185524440T	LIPH	NM_139248.3(LIPH):c.629-280G>A	noncoding	Benign
3	185527171	A	G	A185527171G	LIPH	NM_139248.3(LIPH):c.628+313T>C	noncoding	Benign
3	185533950	C	A	C185533950A	LIPH	NM_139248.3(LIPH):c.418-271G>T	noncoding	Benign
3	185613377	C	A	C185613377A	SENP2	NM_021627.3(SENP2):c.902C>A:p.Thr301Lys	coding	Benign
3	186048922	G	A	G186048922A	ETV5	NM_004454.3(ETV5):c.1312-62C>T	noncoding	Benign
3	186052307	G	T	G186052307T	ETV5	NM_004454.3(ETV5):c.1210-176C>A	noncoding	Benign
3	186057024	C	A	C186057024A	ETV5	NM_004454.3(ETV5):c.1209+51G>T	noncoding	Benign
3	186064176	T	C	T186064176C	ETV5	NM_004454.3(ETV5):c.970+241A>G	noncoding	Benign
3	186080236	C	T	C186080236T	ETV5	NM_004454.3(ETV5):c.363-132G>A	noncoding	Benign
3	186080939	A	G	A186080939G	ETV5	NM_004454.3(ETV5):c.362+107T>C	noncoding	Benign
3	186106153	C	T	C186106153T	ETV5	NM_004454.3(ETV5):c.-74-211G>A	noncoding	Benign
3	186106184	T	C	T186106184C	ETV5	NM_004454.3(ETV5):c.-74-242A>G	noncoding	Benign
3	186106215	T	C	T186106215C	ETV5	NM_004454.3(ETV5):c.-74-273A>G	noncoding	Benign
3	186538927	C	T	C186538927T	CRYGS	NM_017541.4(CRYGS):c.306G>A:p.Gly102=	coding	Benign/Likely_benign
3	186538939	G	T	G186538939T	CRYGS	NM_017541.4(CRYGS):c.294C>A:p.Ile98=	coding	Benign
3	186539091	C	T	C186539091T	CRYGS	NM_017541.4(CRYGS):c.265-123G>A	noncoding	Benign
3	186539894	G	C	G186539894C	CRYGS	NM_017541.4(CRYGS):c.22-297C>G	noncoding	Benign
3	186544252	G	T	G186544252T	CRYGS	NM_017541.4(CRYGS):c.21+54C>A	noncoding	Benign
3	186544708	G	A	G186544708A	CRYGS	Single_allele	noncoding	Benign
3	186570629	C	T	C186570629T	DNAJB11	Single_allele	noncoding	Benign
3	186570776	A	G	A186570776G	DNAJB11	NM_016306.6(DNAJB11):c.-122A>G	noncoding	Benign
3	186571021	G	A	G186571021A	DNAJB11	NM_016306.6(DNAJB11):c.68+56G>A	noncoding	Benign
3	186571884	T	G	T186571884G	DNAJB11	NM_016306.6(DNAJB11):c.69-211T>G	noncoding	Benign
3	186572096	C	T	C186572096T	DNAJB11	NM_016306.6(DNAJB11):c.70C>T:p.Arg24Ter	coding	Pathogenic
3	186575791	T	C	T186575791C	DNAJB11	NM_016306.6(DNAJB11):c.226-49T>C	noncoding	Benign
3	186575799	A	G	A186575799G	DNAJB11	NM_016306.6(DNAJB11):c.226-41A>G	noncoding	Benign
3	186575837	C	T	C186575837T	DNAJB11	NM_016306.6(DNAJB11):c.226-3C>T	noncoding	Benign
3	186575956	T	C	T186575956C	DNAJB11	NM_016306.6(DNAJB11):c.323+19T>C	noncoding	Benign
3	186576030	T	C	T186576030C	DNAJB11	NM_016306.6(DNAJB11):c.323+93T>C	noncoding	Benign
3	186576031	T	G	T186576031G	DNAJB11	NM_016306.6(DNAJB11):c.323+94T>G	noncoding	Benign
3	186576101	T	C	T186576101C	DNAJB11	NM_016306.6(DNAJB11):c.323+164T>C	noncoding	Benign
3	186581318	G	A	G186581318A	DNAJB11	NM_016306.6(DNAJB11):c.457-53G>A	noncoding	Benign
3	186581825	G	A	G186581825A	DNAJB11	NM_016306.6(DNAJB11):c.600-170G>A	noncoding	Benign
3	186582116	T	C	T186582116C	DNAJB11	NM_016306.6(DNAJB11):c.682+39T>C	noncoding	Benign
3	186582708	C	G	C186582708G	DNAJB11	NM_016306.6(DNAJB11):c.683-8C>G	noncoding	Benign
3	186582894	G	T	G186582894T	DNAJB11	NM_016306.6(DNAJB11):c.740+121G>T	noncoding	Benign
3	186583688	G	A	G186583688A	DNAJB11	NM_016306.6(DNAJB11):c.741-177G>A	noncoding	Benign
3	186583914	A	G	A186583914G	DNAJB11	NM_016306.6(DNAJB11):c.790A>G:p.Ile264Val	coding	Benign
3	186583996	C	T	C186583996T	DNAJB11	NM_016306.6(DNAJB11):c.852+20C>T	noncoding	Benign
3	186584051	T	G	T186584051G	DNAJB11	NM_016306.6(DNAJB11):c.852+75T>G	noncoding	Benign
3	186584594	G	A	G186584594A	DNAJB11	NM_016306.6(DNAJB11):c.1012+5G>A	noncoding	Benign
3	186584603	G	T	G186584603T	DNAJB11	NM_016306.6(DNAJB11):c.1012+14G>T	noncoding	Benign
3	186584635	A	G	A186584635G	DNAJB11	NM_016306.6(DNAJB11):c.1012+46A>G	noncoding	Benign
3	186613145	A	T	A186613145T	AHSG	NM_001622.4(AHSG):c.4A>T:p.Lys2Ter	coding	Pathogenic
3	186620636	A	C	A186620636C	AHSG	NM_001622.4(AHSG):c.810A>C:p.Thr270=	coding	Benign
3	186668924	G	T	G186668924T	HRG	NM_000412.5(HRG):c.184-11G>T	noncoding	Benign
3	186672838	C	T	C186672838T	HRG	NM_000412.5(HRG):c.610C>T:p.Pro204Ser	coding	Benign
3	186677647	C	T	C186677647T	HRG	NM_000412.5(HRG):c.1342C>T:p.Arg448Cys	coding	Benign
3	186677783	A	T	A186677783T	HRG	NM_000412.5(HRG):c.1478A>T:p.Asn493Ile	coding	Benign
3	186741532	T	A	T186741532A	KNG1	NM_001102416.3(KNG1):c.1136T>A:p.Met379Lys	coding	Pathogenic
3	186742116	C	G	C186742116G	KNG1	NM_001102416.3(KNG1):c.1720C>G:p.Pro574Ala	coding	Pathogenic
3	186790133	C	T	C186790133T	RFC4	NM_002916.5(RFC4):c.996+9G>A	noncoding	Benign
3	187219780	A	G	A187219780G	MASP1	NM_001879.6(MASP1):c.*291T>C	noncoding	Benign
3	187220496	C	T	C187220496T	MASP1	NM_001879.6(MASP1):c.1910-235G>A	noncoding	Benign
3	187220911	C	G	C187220911G	MASP1	NM_001879.6(MASP1):c.1909+124G>C	noncoding	Benign
3	187221168	C	T	C187221168T	MASP1	NM_001879.6(MASP1):c.1810-34G>A	noncoding	Benign
3	187221403	T	A	T187221403A	MASP1	NM_001879.6(MASP1):c.1810-269A>T	noncoding	Benign
3	187223009	G	T	G187223009T	MASP1	NM_001879.6(MASP1):c.1809+118C>A	noncoding	Benign
3	187225362	A	G	A187225362G	MASP1	NM_001879.6(MASP1):c.1703T>C:p.Val568Ala	coding	Benign
3	187226101	G	A	G187226101A	MASP1	NM_001879.6(MASP1):c.1555+306C>T	noncoding	Benign
3	187229440	A	G	A187229440G	MASP1	NM_001879.6(MASP1):c.1441+320T>C	noncoding	Benign
3	187229493	C	T	C187229493T	MASP1	NM_001879.6(MASP1):c.1441+267G>A	noncoding	Benign
3	187229622	C	T	C187229622T	MASP1	NM_001879.6(MASP1):c.1441+138G>A	noncoding	Benign
3	187230013	C	T	C187230013T	MASP1	NM_001879.6(MASP1):c.1304-116G>A	noncoding	Benign
3	187230086	G	C	G187230086C	MASP1	NM_001879.6(MASP1):c.1304-189C>G	noncoding	Benign
3	187235438	C	G	C187235438G	MASP1	NM_139125.4(MASP1):c.*246G>C	coding	Benign
3	187235533	C	T	C187235533T	MASP1	NM_139125.4(MASP1):c.*151G>A	coding	Benign
3	187236020	C	T	C187236020T	MASP1	NM_139125.4(MASP1):c.1851G>A:p.Leu617=	coding	Benign
3	187236144	C	A	C187236144A	MASP1	NM_139125.4(MASP1):c.1727G>T:p.Arg576Met	coding	Benign
3	187236497	A	G	A187236497G	MASP1	NM_139125.4(MASP1):c.1374T>C:p.Pro458=	coding	Benign
3	187236536	G	A	G187236536A	MASP1	NM_139125.4(MASP1):c.1335C>T:p.Ser445=	coding	Benign
3	187241254	G	A	G187241254A	MASP1	NM_139125.4(MASP1):c.1303+227C>T	noncoding	Benign
3	187243632	A	G	A187243632G	MASP1	NM_139125.4(MASP1):c.1091-11T>C	noncoding	Benign
3	187243690	A	G	A187243690G	MASP1	NM_139125.4(MASP1):c.1091-69T>C	noncoding	Benign
3	187247480	A	G	A187247480G	MASP1	NM_139125.4(MASP1):c.1090+2771T>C	noncoding	Benign
3	187250154	G	A	G187250154A	MASP1	NM_139125.4(MASP1):c.1090+97C>T	noncoding	Benign
3	187250191	C	T	C187250191T	MASP1	NM_139125.4(MASP1):c.1090+60G>A	noncoding	Benign
3	187250346	A	G	A187250346G	MASP1	NM_139125.4(MASP1):c.1012-17T>C	noncoding	Benign
3	187251766	A	C	A187251766C	MASP1	NM_139125.4(MASP1):c.893-14T>G	noncoding	Benign/Likely_benign
3	187251846	A	G	A187251846G	MASP1	NM_139125.4(MASP1):c.893-94T>C	noncoding	Benign
3	187252065	C	T	C187252065T	MASP1	NM_139125.4(MASP1):c.893-313G>A	noncoding	Benign
3	187252909	A	T	A187252909T	MASP1	NM_139125.4(MASP1):c.892+259T>A	noncoding	Benign
3	187253020	A	G	A187253020G	MASP1	NM_139125.4(MASP1):c.892+148T>C	noncoding	Benign
3	187253508	A	G	A187253508G	MASP1	NM_139125.4(MASP1):c.745-193T>C	noncoding	Benign
3	187256367	G	T	G187256367T	MASP1	NM_139125.4(MASP1):c.744+297C>A	noncoding	Benign
3	187260495	T	C	T187260495C	MASP1	NM_139125.4(MASP1):c.547+246A>G	noncoding	Benign
3	187260496	G	A	G187260496A	MASP1	NM_139125.4(MASP1):c.547+245C>T	noncoding	Benign
3	187260727	T	C	T187260727C	MASP1	NM_139125.4(MASP1):c.547+14A>G	noncoding	Benign/Likely_benign
3	187262476	C	T	C187262476T	MASP1	NM_139125.4(MASP1):c.415+67G>A	noncoding	Benign
3	187285707	A	G	A187285707G	MASP1	NM_139125.4(MASP1):c.237+118T>C	noncoding	Benign
3	187286395	T	C	T187286395C	MASP1	NM_139125.4(MASP1):c.6-339A>G	noncoding	Benign
3	187291388	G	A	G187291388A	MASP1	NM_139125.4(MASP1):c.5+240C>T	noncoding	Benign
3	187291563	C	G	C187291563G	MASP1	NM_139125.4(MASP1):c.5+65G>C	noncoding	Benign
3	187291584	G	A	G187291584A	MASP1	NM_139125.4(MASP1):c.5+44C>T	noncoding	Benign
3	187291624	G	A	G187291624A	MASP1	NM_139125.4(MASP1):c.5+4C>T	noncoding	Benign
3	187291950	T	C	T187291950C	MASP1	Single_allele	noncoding	Benign
3	187291951	G	A	G187291951A	MASP1	Single_allele	noncoding	Benign
3	187291954	T	C	T187291954C	MASP1	Single_allele	noncoding	Benign
3	188405910	C	T	C188405910T	LPP	NM_001375462.1(LPP):c.-9-202C>T	noncoding	Benign
3	188406031	T	G	T188406031G	LPP	NM_001375462.1(LPP):c.-9-81T>G	noncoding	Benign
3	188406566	C	A	C188406566A	LPP	NM_001375462.1(LPP):c.193+253C>A	noncoding	Benign
3	188484762	A	T	A188484762T	LPP	NM_001375462.1(LPP):c.306+58A>T	noncoding	Benign
3	188484794	G	T	G188484794T	LPP	NM_001375462.1(LPP):c.306+90G>T	noncoding	Benign
3	188609167	A	G	A188609167G	LPP	NM_001375462.1(LPP):c.436A>G:p.Thr146Ala	coding	Benign
3	188609673	C	T	C188609673T	LPP	NM_001375462.1(LPP):c.942C>T:p.Asp314=	coding	Benign
3	188609767	T	C	T188609767C	LPP	NM_001375462.1(LPP):c.1036T>C:p.Tyr346His	coding	Benign
3	188609895	T	C	T188609895C	LPP	NM_001375462.1(LPP):c.1113+51T>C	noncoding	Benign
3	188708468	A	G	A188708468G	LPP	NM_001375462.1(LPP):c.1240+75A>G	noncoding	Benign
3	188708642	G	A	G188708642A	LPP	NM_001375462.1(LPP):c.1240+249G>A	noncoding	Benign
3	188759802	A	G	A188759802G	LPP	NM_001375462.1(LPP):c.1241-311A>G	noncoding	Benign
3	188760437	C	T	C188760437T	LPP	NM_001375462.1(LPP):c.1410+155C>T	noncoding	Benign
3	188760439	T	C	T188760439C	LPP	NM_001375462.1(LPP):c.1410+157T>C	noncoding	Benign
3	188760444	G	A	G188760444A	LPP	NM_001375462.1(LPP):c.1410+162G>A	noncoding	Benign
3	188760447	T	C	T188760447C	LPP	NM_001375462.1(LPP):c.1410+165T>C	noncoding	Benign
3	188866398	G	A	G188866398A	LPP	NM_001375462.1(LPP):c.1589+20G>A	noncoding	Benign
3	188872570	C	T	C188872570T	LPP	NM_001375462.1(LPP):c.1590-73C>T	noncoding	Benign
3	188872658	A	G	A188872658G	LPP	NM_001375462.1(LPP):c.1605A>G:p.Arg535=	coding	Benign
3	188872862	G	T	G188872862T	LPP	NM_001375462.1(LPP):c.1710+99G>T	noncoding	Benign
3	188872875	G	A	G188872875A	LPP	NM_001375462.1(LPP):c.1710+112G>A	noncoding	Benign
3	188874208	G	A	G188874208A	LPP	NM_001375462.1(LPP):c.1711-143G>A	noncoding	Benign
3	189631535	G	T	G189631535T	TP63	NM_003722.5(TP63):c.20G>T:p.Arg7Leu	coding	Benign
3	189638472	T	C	T189638472C	TP63	NM_003722.5(TP63):c.62+6895T>C	noncoding	Benign
3	189639813	T	C	T189639813C	TP63	NM_003722.5(TP63):c.62+8236T>C	noncoding	Benign
3	189656444	G	T	G189656444T	TP63	NM_003722.5(TP63):c.62+24867G>T	noncoding	Benign
3	189681360	A	G	A189681360G	TP63	NM_003722.5(TP63):c.62+49783A>G	noncoding	Benign
3	189706776	A	T	A189706776T	TP63	NM_003722.5(TP63):c.63-30964A>T	noncoding	Benign
3	189731429	C	T	C189731429T	TP63	NM_003722.5(TP63):c.63-6311C>T	noncoding	Benign
3	189731466	G	T	G189731466T	TP63	NM_003722.5(TP63):c.63-6274G>T	noncoding	Benign
3	189731674	G	A	G189731674A	TP63	NM_003722.5(TP63):c.63-6066G>A	noncoding	Benign
3	189737404	A	G	A189737404G	TP63	NM_003722.5(TP63):c.63-336A>G	noncoding	Benign
3	189737591	A	G	A189737591G	TP63	NM_003722.5(TP63):c.63-149A>G	noncoding	Benign
3	189737723	A	G	A189737723G	TP63	NM_003722.5(TP63):c.63-17A>G	noncoding	Benign
3	189738122	C	G	C189738122G	TP63	NM_003722.5(TP63):c.191+254C>G	noncoding	Benign
3	189738740	G	C	G189738740C	TP63	NM_003722.5(TP63):c.290G>C:p.Arg97Pro	coding	Pathogenic
3	189738781	G	A	G189738781A	TP63	NM_003722.5(TP63):c.324+7G>A	noncoding	Benign
3	189738850	T	C	T189738850C	TP63	NM_003722.5(TP63):c.324+76T>C	noncoding	Benign
3	189738940	C	G	C189738940G	TP63	NM_003722.5(TP63):c.324+166C>G	noncoding	Benign
3	189789472	T	G	T189789472G	TP63	NM_003722.5(TP63):c.325-18800T>G	noncoding	Benign
3	189789529	A	G	A189789529G	TP63	NM_003722.5(TP63):c.325-18743A>G	noncoding	Benign
3	189789665	G	C	G189789665C	TP63	NM_003722.5(TP63):c.325-18607G>C	coding	Benign
3	189808275	C	T	C189808275T	TP63	NM_003722.5(TP63):c.328C>T:p.Gln110Ter	coding	Pathogenic
3	189808364	G	A	G189808364A	TP63	NM_003722.5(TP63):c.417G>A:p.Ala139=	coding	Benign
3	189808379	G	A	G189808379A	TP63	NM_003722.5(TP63):c.432G>A:p.Thr144=	coding	Benign
3	189808445	C	T	C189808445T	TP63	NM_003722.5(TP63):c.498C>T:p.Pro166=	coding	Benign
3	189808565	T	A	T189808565A	TP63	NM_003722.5(TP63):c.579+39T>A	noncoding	Benign
3	189864221	A	T	A189864221T	TP63	NM_003722.5(TP63):c.580-11A>T	noncoding	Benign
3	189864300	G	C	G189864300C	TP63	NM_003722.5(TP63):c.648G>C:p.Met216Ile	coding	Benign
3	189864712	A	G	A189864712G	TP63	NM_003722.5(TP63):c.766+294A>G	noncoding	Benign
3	189866344	A	G	A189866344G	TP63	NM_003722.5(TP63):c.767-338A>G	noncoding	Benign
3	189866642	A	G	A189866642G	TP63	NM_003722.5(TP63):c.767-40A>G	noncoding	Benign
3	189868063	C	T	C189868063T	TP63	NM_003722.5(TP63):c.992+121C>T	noncoding	Benign
3	189868241	T	G	T189868241G	TP63	NM_003722.5(TP63):c.992+299T>G	noncoding	Benign
3	189868393	A	G	A189868393G	TP63	NM_003722.5(TP63):c.993-187A>G	noncoding	Benign
3	189868594	G	A	G189868594A	TP63	NM_003722.5(TP63):c.1007G>A:p.Gly336Asp	coding	Pathogenic/Likely_pathogenic
3	189868649	G	A	G189868649A	TP63	NM_003722.5(TP63):c.1062G>A:p.Ala354=	coding	Benign
3	189868714	G	A	G189868714A	TP63	NM_003722.5(TP63):c.1127G>A:p.Arg376His	coding	Benign/Likely_benign
3	189868841	C	G	C189868841G	TP63	NM_003722.5(TP63):c.1129+125C>G	noncoding	Benign
3	189869041	A	G	A189869041G	TP63	NM_003722.5(TP63):c.1130-283A>G	noncoding	Benign
3	189869087	T	C	T189869087C	TP63	NM_003722.5(TP63):c.1130-237T>C	noncoding	Benign
3	189869485	A	G	A189869485G	TP63	NM_003722.5(TP63):c.1212+79A>G	noncoding	Benign
3	189872855	A	G	A189872855G	TP63	NM_003722.5(TP63):c.1213-4A>G	noncoding	Benign
3	189873264	G	T	G189873264T	TP63	NM_003722.5(TP63):c.1349+269G>T	noncoding	Benign
3	189886411	C	T	C189886411T	TP63	NM_003722.5(TP63):c.1367C>T:p.Pro456Leu	coding	Benign
3	189886524	A	G	A189886524G	TP63	NM_003722.5(TP63):c.1480A>G:p.Thr494Ala	coding	Benign
3	189886532	T	A	T189886532A	TP63	NM_003722.5(TP63):c.1488T>A:p.Pro496=	coding	Benign
3	189886815	C	T	C189886815T	TP63	NM_003722.5(TP63):c.1507+264C>T	noncoding	Benign
3	189886820	A	G	A189886820G	TP63	NM_003722.5(TP63):c.1507+269A>G	noncoding	Benign
3	189890525	C	T	C189890525T	TP63	NM_003722.5(TP63):c.1653-264C>T	noncoding	Benign
3	189890806	G	T	G189890806T	TP63	NM_003722.5(TP63):c.1670G>T:p.Gly557Val	coding	Pathogenic
3	189890831	C	A	C189890831A	TP63	NM_003722.5(TP63):c.1695C>A:p.Phe565Leu	coding	Pathogenic
3	189894398	C	T	C189894398T	TP63	NM_003722.5(TP63):c.1939C>T:p.Arg647Cys	coding	Pathogenic
3	189897324	C	T	C189897324T	TP63	Single_allele	noncoding	Benign
3	189963769	C	G	C189963769G	P3H2	NM_018192.4(P3H2):c.2034+189G>C	noncoding	Benign
3	189963942	C	T	C189963942T	P3H2	NM_018192.4(P3H2):c.2034+16G>A	noncoding	Benign
3	189970780	C	A	C189970780A	P3H2	NM_018192.4(P3H2):c.1893+36G>T	noncoding	Benign
3	189971907	G	A	G189971907A	P3H2	NM_018192.4(P3H2):c.1800C>T:p.Tyr600=	coding	Benign
3	189971925	C	T	C189971925T	P3H2	NM_018192.4(P3H2):c.1782G>A:p.Trp594Ter	coding	Pathogenic
3	189971934	G	A	G189971934A	P3H2	NM_018192.4(P3H2):c.1773C>T:p.Asn591=	coding	Benign
3	189972280	G	A	G189972280A	P3H2	NM_018192.4(P3H2):c.1700-273C>T	noncoding	Benign
3	189972349	A	G	A189972349G	P3H2	NM_018192.4(P3H2):c.1700-342T>C	noncoding	Benign
3	189972772	G	A	G189972772A	P3H2	NM_018192.4(P3H2):c.1699+102C>T	noncoding	Benign
3	189972958	G	A	G189972958A	P3H2	NM_018192.4(P3H2):c.1615C>T:p.Arg539Ter	coding	Pathogenic
3	189973034	A	C	A189973034C	P3H2	NM_018192.4(P3H2):c.1549-10T>G	noncoding	Benign/Likely_benign
3	189973037	A	C	A189973037C	P3H2	NM_018192.4(P3H2):c.1549-13T>G	noncoding	Benign
3	189973039	C	A	C189973039A	P3H2	NM_018192.4(P3H2):c.1549-15G>T	noncoding	Benign
3	189973072	T	A	T189973072A	P3H2	NM_018192.4(P3H2):c.1549-48A>T	noncoding	Benign
3	189973710	G	A	G189973710A	P3H2	NM_018192.4(P3H2):c.1548+199C>T	noncoding	Benign
3	189973890	A	G	A189973890G	P3H2	NM_018192.4(P3H2):c.1548+19T>C	noncoding	Benign/Likely_benign
3	189973947	C	A	C189973947A	P3H2	NM_018192.4(P3H2):c.1510G>T:p.Glu504Ter	coding	Pathogenic
3	189974623	G	A	G189974623A	P3H2	NM_018192.4(P3H2):c.1387C>T:p.Gln463Ter	coding	Pathogenic
3	189974633	C	T	C189974633T	P3H2	NM_018192.4(P3H2):c.1377G>A:p.Leu459=	coding	Benign
3	189974638	G	A	G189974638A	P3H2	NM_018192.4(P3H2):c.1372C>T:p.Gln458Ter	coding	Pathogenic/Likely_pathogenic
3	189974776	G	A	G189974776A	P3H2	NM_018192.4(P3H2):c.1325-91C>T	noncoding	Benign
3	189974909	C	T	C189974909T	P3H2	NM_018192.4(P3H2):c.1325-224G>A	noncoding	Benign
3	189983061	G	A	G189983061A	P3H2	NM_018192.4(P3H2):c.1309C>T:p.Arg437Ter	coding	Pathogenic
3	189983179	G	C	G189983179C	P3H2	NM_018192.4(P3H2):c.1230-39C>G	noncoding	Benign
3	189984411	T	C	T189984411C	P3H2	NM_018192.4(P3H2):c.1229+139A>G	noncoding	Benign
3	189984542	G	A	G189984542A	P3H2	NM_018192.4(P3H2):c.1229+8C>T	noncoding	Benign
3	189984557	C	T	C189984557T	P3H2	NM_018192.4(P3H2):c.1222G>A:p.Glu408Lys	coding	Benign
3	189984794	A	C	A189984794C	P3H2	NM_018192.4(P3H2):c.1189-204T>G	noncoding	Benign
3	189986850	T	A	T189986850A	P3H2	NM_018192.4(P3H2):c.1126A>T:p.Lys376Ter	coding	Pathogenic
3	189987499	G	A	G189987499A	P3H2	NM_018192.4(P3H2):c.1098+28C>T	noncoding	Benign
3	189987753	A	G	A189987753G	P3H2	NM_018192.4(P3H2):c.956-84T>C	noncoding	Benign
3	189988872	C	T	C189988872T	P3H2	NM_018192.4(P3H2):c.955+35G>A	noncoding	Benign
3	189988888	C	T	C189988888T	P3H2	NM_018192.4(P3H2):c.955+19G>A	noncoding	Benign
3	189988910	G	A	G189988910A	P3H2	NM_018192.4(P3H2):c.952C>T:p.Arg318Ter	coding	Pathogenic
3	189988973	G	A	G189988973A	P3H2	NM_018192.4(P3H2):c.889C>T:p.Arg297Cys	coding	Benign
3	189989319	T	C	T189989319C	P3H2	NM_018192.4(P3H2):c.824-281A>G	noncoding	Benign
3	189989322	C	T	C189989322T	P3H2	NM_018192.4(P3H2):c.824-284G>A	noncoding	Benign
3	189993822	T	A	T189993822A	P3H2	NM_018192.4(P3H2):c.823+272A>T	noncoding	Benign
3	189994135	T	A	T189994135A	P3H2	NM_018192.4(P3H2):c.782A>T:p.Glu261Val	coding	Benign
3	189994300	G	A	G189994300A	P3H2	NM_018192.4(P3H2):c.634-17C>T	noncoding	Benign
3	189994301	G	A	G189994301A	P3H2	NM_018192.4(P3H2):c.634-18C>T	noncoding	Benign
3	189994302	G	A	G189994302A	P3H2	NM_018192.4(P3H2):c.634-19C>T	noncoding	Benign
3	189994333	C	A	C189994333A	P3H2	NM_018192.4(P3H2):c.634-50G>T	noncoding	Benign
3	189995013	C	T	C189995013T	P3H2	NM_018192.4(P3H2):c.633+277G>A	noncoding	Benign
3	189995014	A	G	A189995014G	P3H2	NM_018192.4(P3H2):c.633+276T>C	noncoding	Benign
3	189995276	C	G	C189995276G	P3H2	NM_018192.4(P3H2):c.633+14G>C	noncoding	Benign
3	189995355	T	C	T189995355C	P3H2	NM_018192.4(P3H2):c.568A>G:p.Asn190Asp	coding	Benign
3	190056667	C	T	C190056667T	P3H2	NM_018192.4(P3H2):c.481-61225G>A	noncoding	Benign
3	190120204	G	A	G190120204A	P3H2	NM_018192.4(P3H2):c.480+48C>T	noncoding	Benign
3	190120229	G	T	G190120229T	P3H2	NM_018192.4(P3H2):c.480+23C>A	noncoding	Benign
3	190120353	G	A	G190120353A	P3H2	NM_018192.4(P3H2):c.379C>T:p.Arg127Cys	coding	Benign
3	190120392	A	G	A190120392G	P3H2	NM_018192.4(P3H2):c.340T>C:p.Leu114=	coding	Benign
3	190120419	C	T	C190120419T	P3H2	NM_018192.4(P3H2):c.313G>A:p.Ala105Thr	coding	Benign/Likely_benign
3	190120548	G	A	G190120548A	P3H2	NM_018192.4(P3H2):c.184C>T:p.Arg62Ter	coding	Pathogenic
3	190121331	C	T	C190121331T	P3H2	NM_001134418.2(P3H2):c.-64+872G>A	noncoding	Benign
3	190308016	G	T	G190308016T	CLDN1	NM_021101.5(CLDN1):c.*261C>A	noncoding	Benign
3	190308175	C	T	C190308175T	CLDN1	NM_021101.5(CLDN1):c.*102G>A	noncoding	Benign
3	190308594	C	T	C190308594T	CLDN1	NM_021101.5(CLDN1):c.474-155G>A	noncoding	Benign
3	190308707	A	G	A190308707G	CLDN1	NM_021101.5(CLDN1):c.474-268T>C	noncoding	Benign
3	190310483	A	T	A190310483T	CLDN1	NM_021101.5(CLDN1):c.389-230T>A	noncoding	Benign
3	190312737	G	A	G190312737A	CLDN1	NM_021101.5(CLDN1):c.388+135C>T	noncoding	Benign
3	190312894	C	T	C190312894T	CLDN1	NM_021101.5(CLDN1):c.366G>A:p.Gly122_Gly123=	coding	Benign
3	190313200	G	A	G190313200A	CLDN1	NM_021101.5(CLDN1):c.224-164C>T	noncoding	Benign
3	190313243	A	G	A190313243G	CLDN1	NM_021101.5(CLDN1):c.224-207T>C	noncoding	Benign
3	190321812	G	C	G190321812C	CLDN1	NM_021101.5(CLDN1):c.223+172C>G	noncoding	Benign
3	190322066	G	T	G190322066T	CLDN1	NM_021101.5(CLDN1):c.141C>A:p.Tyr47Ter	coding	Pathogenic
3	190322154	C	T	C190322154T	CLDN1	NM_021101.5(CLDN1):c.53G>A:p.Trp18Ter	coding	Pathogenic
3	190322418	C	A	C190322418A	CLDN1	NM_021101.5(CLDN1):c.-212G>T	noncoding	Benign
3	190322608	C	T	C190322608T	CLDN1	NM_001378492.1(CLDN16):c.-279+7549C>T	noncoding	Benign
3	190322650	C	A	C190322650A	CLDN1	NM_001378492.1(CLDN16):c.-279+7591C>A	noncoding	Benign
3	190322667	G	A	G190322667A	CLDN1	NM_001378492.1(CLDN16):c.-279+7608G>A	noncoding	Benign
3	190387530	G	A	G190387530A	CLDN16	NM_001378492.1(CLDN16):c.-93-707G>A	noncoding	Benign
3	190387611	A	G	A190387611G	CLDN16	NM_001378492.1(CLDN16):c.-93-626A>G	noncoding	Benign
3	190387662	C	T	C190387662T	CLDN16	NM_001378492.1(CLDN16):c.-93-575C>T	noncoding	Benign
3	190388543	T	A	T190388543A	CLDN16	NM_006580.4(CLDN16):c.114+100T>A	noncoding	Benign
3	190388563	A	G	A190388563G	CLDN16	NM_006580.4(CLDN16):c.114+120A>G	noncoding	Benign
3	190404543	A	G	A190404543G	CLDN16	NM_006580.4(CLDN16):c.218-219A>G	noncoding	Benign
3	190404780	G	A	G190404780A	CLDN16	NM_006580.4(CLDN16):c.236G>A:p.Arg79Gln	coding	Pathogenic
3	190408128	A	G	A190408128G	CLDN16	NM_006580.4(CLDN16):c.383-186A>G	noncoding	Benign
3	190408384	G	T	G190408384T	CLDN16	NM_006580.4(CLDN16):c.453G>T:p.Leu151Phe	coding	Pathogenic
3	190408622	A	G	A190408622G	CLDN16	NM_006580.4(CLDN16):c.574+117A>G	noncoding	Benign
3	191328956	C	T	C191328956T	CCDC50	NM_198152.5(UTS2B):c.-664-247G>A	noncoding	Benign
3	191328981	G	A	G191328981A	CCDC50	NM_198152.5(UTS2B):c.-664-272C>T	noncoding	Benign
3	191329004	G	C	G191329004C	CCDC50	NM_198152.5(UTS2B):c.-664-295C>G	noncoding	Benign
3	191329088	A	G	A191329088G	CCDC50	NM_198152.5(UTS2B):c.-664-379T>C	noncoding	Benign
3	191329141	C	G	C191329141G	CCDC50	NM_198152.5(UTS2B):c.-664-432G>C	noncoding	Benign
3	191329937	G	T	G191329937T	CCDC50	NM_178335.3(CCDC50):c.49+214G>T	noncoding	Benign
3	191329942	T	G	T191329942G	CCDC50	NM_178335.3(CCDC50):c.49+219T>G	noncoding	Benign
3	191329946	G	C	G191329946C	CCDC50	NM_178335.3(CCDC50):c.49+223G>C	noncoding	Benign
3	191329951	G	C	G191329951C	CCDC50	NM_178335.3(CCDC50):c.49+228G>C	noncoding	Benign
3	191329954	G	A	G191329954A	CCDC50	NM_178335.3(CCDC50):c.49+231G>A	noncoding	Benign
3	191329954	G	T	G191329954T	CCDC50	NM_178335.3(CCDC50):c.49+231G>T	noncoding	Benign
3	191329971	A	G	A191329971G	CCDC50	NM_178335.3(CCDC50):c.49+248A>G	noncoding	Benign
3	191357223	G	T	G191357223T	CCDC50	NM_178335.3(CCDC50):c.112+73G>T	noncoding	Benign
3	191357860	A	G	A191357860G	CCDC50	NM_178335.3(CCDC50):c.113-138A>G	noncoding	Benign
3	191357867	G	A	G191357867A	CCDC50	NM_178335.3(CCDC50):c.113-131G>A	noncoding	Benign
3	191360985	G	A	G191360985A	CCDC50	NM_178335.3(CCDC50):c.240-84G>A	noncoding	Benign
3	191369611	G	C	G191369611C	CCDC50	NM_178335.3(CCDC50):c.331-308G>C	noncoding	Benign
3	191369650	C	A	C191369650A	CCDC50	NM_178335.3(CCDC50):c.331-269C>A	noncoding	Benign
3	191369688	G	A	G191369688A	CCDC50	NM_178335.3(CCDC50):c.331-231G>A	noncoding	Benign
3	191369757	A	G	A191369757G	CCDC50	NM_178335.3(CCDC50):c.331-162A>G	noncoding	Benign
3	191369762	G	A	G191369762A	CCDC50	NM_178335.3(CCDC50):c.331-157G>A	noncoding	Benign
3	191370205	T	C	T191370205C	CCDC50	NM_178335.3(CCDC50):c.448+169T>C	noncoding	Benign
3	191375645	A	G	A191375645G	CCDC50	NM_178335.3(CCDC50):c.976+56A>G	noncoding	Benign
3	191375686	T	C	T191375686C	CCDC50	NM_178335.3(CCDC50):c.976+97T>C	noncoding	Benign
3	191375837	A	G	A191375837G	CCDC50	NM_178335.3(CCDC50):c.976+248A>G	noncoding	Benign
3	191380119	C	T	C191380119T	CCDC50	NM_178335.3(CCDC50):c.977-40C>T	noncoding	Benign
3	191380317	A	T	A191380317T	CCDC50	NM_178335.3(CCDC50):c.1092+43A>T	noncoding	Benign
3	191380332	C	T	C191380332T	CCDC50	NM_178335.3(CCDC50):c.1092+58C>T	noncoding	Benign
3	191382576	C	T	C191382576T	CCDC50	NM_178335.3(CCDC50):c.1243-170C>T	noncoding	Benign
3	191382659	G	T	G191382659T	CCDC50	NM_178335.3(CCDC50):c.1243-87G>T	noncoding	Benign
3	191389234	G	T	G191389234T	CCDC50	NM_178335.3(CCDC50):c.1323-262G>T	noncoding	Benign
3	191389403	A	G	A191389403G	CCDC50	NM_178335.3(CCDC50):c.1323-93A>G	noncoding	Benign
3	191389827	G	A	G191389827A	CCDC50	NM_178335.3(CCDC50):c.1429+225G>A	noncoding	Benign
3	191391445	C	T	C191391445T	CCDC50	NM_178335.3(CCDC50):c.1430-296C>T	noncoding	Benign
3	192143732	A	G	A192143732G	FGF12	NM_004113.6(FGF12):c.*277T>C	noncoding	Benign
3	192144411	G	C	G192144411C	FGF12	NM_004113.6(FGF12):c.428-284C>G	noncoding	Benign
3	192170186	G	A	G192170186A	FGF12	NM_004113.6(FGF12):c.427+272C>T	noncoding	Benign
3	192170209	G	C	G192170209C	FGF12	NM_004113.6(FGF12):c.427+249C>G	noncoding	Benign
3	192170334	C	G	C192170334G	FGF12	NM_004113.6(FGF12):c.427+124G>C	noncoding	Benign
3	192170381	G	A	G192170381A	FGF12	NM_004113.6(FGF12):c.427+77C>T	noncoding	Benign
3	192170663	G	A	G192170663A	FGF12	NM_004113.6(FGF12):c.229-7C>T	noncoding	Benign
3	192170665	A	G	A192170665G	FGF12	NM_004113.6(FGF12):c.229-9T>C	noncoding	Benign/Likely_benign
3	192170748	C	T	C192170748T	FGF12	NM_004113.6(FGF12):c.229-92G>A	noncoding	Benign
3	192170781	A	G	A192170781G	FGF12	NM_004113.6(FGF12):c.229-125T>C	noncoding	Benign
3	192170840	G	T	G192170840T	FGF12	NM_004113.6(FGF12):c.229-184C>A	noncoding	Benign
3	192170895	C	G	C192170895G	FGF12	NM_004113.6(FGF12):c.229-239G>C	noncoding	Benign
3	192170933	C	T	C192170933T	FGF12	NM_004113.6(FGF12):c.229-277G>A	noncoding	Benign
3	192335265	A	G	A192335265G	FGF12	NM_004113.6(FGF12):c.228+96T>C	noncoding	Benign
3	192335326	C	T	C192335326T	FGF12	NM_004113.6(FGF12):c.228+35G>A	noncoding	Benign
3	192335375	A	G	A192335375G	FGF12	NM_004113.6(FGF12):c.214T>C:p.Tyr72His	coding	Benign
3	192335427	C	T	C192335427T	FGF12	NM_004113.6(FGF12):c.162G>A:p.Val54=	coding	Benign
3	192335485	G	A	G192335485A	FGF12	NM_004113.6(FGF12):c.125-21C>T	noncoding	Benign
3	192335607	C	T	C192335607T	FGF12	NM_004113.6(FGF12):c.125-143G>A	noncoding	Benign
3	192407979	A	G	A192407979G	FGF12	NM_004113.6(FGF12):c.14-47441T>C	noncoding	Benign
3	192408139	G	A	G192408139A	FGF12	NM_004113.6(FGF12):c.14-47601C>T	coding	Benign
3	192408162	C	G	C192408162G	FGF12	NM_004113.6(FGF12):c.14-47624G>C	coding	Benign
3	192408733	C	T	C192408733T	FGF12	NM_004113.6(FGF12):c.14-48195G>A	coding	Benign
3	192408871	A	G	A192408871G	FGF12	NM_004113.6(FGF12):c.14-48333T>C	coding	Benign
3	192408968	G	T	G192408968T	FGF12	NM_004113.6(FGF12):c.14-48430C>A	coding	Benign
3	192409030	A	G	A192409030G	FGF12	NM_004113.6(FGF12):c.14-48492T>C	coding	Benign
3	192409198	G	T	G192409198T	FGF12	NM_004113.6(FGF12):c.14-48660C>A	noncoding	Benign
3	192409717	A	G	A192409717G	FGF12	NM_004113.6(FGF12):c.14-49179T>C	noncoding	Benign
3	192726953	G	C	G192726953C	FGF12	NM_004113.6(FGF12):c.13+228C>G	noncoding	Benign
3	192727110	C	A	C192727110A	FGF12	NM_004113.6(FGF12):c.13+71G>T	noncoding	Benign
3	192727116	G	T	G192727116T	FGF12	NM_004113.6(FGF12):c.13+65C>A	noncoding	Benign
3	193491389	T	C	T193491389C	ATP13A4	NM_032279.4(ATP13A4):c.543A>G:p.Ile181Met	coding	Benign
3	193593423	C	T	C193593423T	OPA1	NM_130837.3(OPA1):c.32+14C>T	noncoding	Benign/Likely_benign
3	193593695	C	T	C193593695T	OPA1	NM_130837.3(OPA1):c.32+286C>T	noncoding	Benign
3	193614872	A	G	A193614872G	OPA1	NM_130837.3(OPA1):c.182A>G:p.Gln61Arg	coding	Benign/Likely_benign
3	193615119	G	A	G193615119A	OPA1	NM_130837.3(OPA1):c.351+78G>A	noncoding	Benign
3	193615221	A	G	A193615221G	OPA1	NM_130837.3(OPA1):c.351+180A>G	noncoding	Benign
3	193615316	G	C	G193615316C	OPA1	NM_130837.3(OPA1):c.351+275G>C	noncoding	Benign
3	193615723	G	A	G193615723A	OPA1	NM_130837.3(OPA1):c.401G>A:p.Trp134Ter	coding	Pathogenic
3	193617057	A	G	A193617057G	OPA1	NM_130837.3(OPA1):c.449-121A>G	noncoding	Benign
3	193625972	C	G	C193625972G	OPA1	NM_130837.3(OPA1):c.679-120C>G	noncoding	Benign
3	193626161	G	A	G193626161A	OPA1	NM_130837.3(OPA1):c.748G>A:p.Ala250Thr	coding	Benign/Likely_benign
3	193631326	T	C	T193631326C	OPA1	NM_130837.3(OPA1):c.790-286T>C	noncoding	Benign
3	193631642	C	T	C193631642T	OPA1	NM_130837.3(OPA1):c.820C>T:p.Gln274Ter	coding	Pathogenic
3	193635283	G	A	G193635283A	OPA1	NM_130837.3(OPA1):c.844-135G>A	noncoding	Benign
3	193635511	A	T	A193635511T	OPA1	NM_130837.3(OPA1):c.937A>T:p.Arg313Ter	coding	Pathogenic
3	193637944	G	T	G193637944T	OPA1	NM_130837.3(OPA1):c.1036-8G>T	noncoding	Benign/Likely_benign
3	193637967	G	C	G193637967C	OPA1	NM_130837.3(OPA1):c.1051G>C:p.Asp351His	coding	Pathogenic/Likely_pathogenic
3	193638065	G	A	G193638065A	OPA1	NM_130837.3(OPA1):c.1149G>A:p.Lys383=	coding	Pathogenic
3	193643037	C	T	C193643037T	OPA1	NM_130837.3(OPA1):c.1293C>T:p.Thr431=	coding	Benign/Likely_benign
3	193643445	G	T	G193643445T	OPA1	NM_130837.3(OPA1):c.1377+1G>T	coding	Pathogenic
3	193643558	A	G	A193643558G	OPA1	NM_130837.3(OPA1):c.1408A>G:p.Lys470Glu	coding	Pathogenic
3	193643828	C	T	C193643828T	OPA1	NM_130837.3(OPA1):c.1478-147C>T	noncoding	Benign
3	193644128	G	A	G193644128A	OPA1	NM_130837.3(OPA1):c.1608+23G>A	noncoding	Benign
3	193645478	T	C	T193645478C	OPA1	NM_130837.3(OPA1):c.1609-75T>C	noncoding	Benign
3	193645556	C	T	C193645556T	OPA1	NM_130837.3(OPA1):c.1612C>T:p.Gln538Ter	coding	Pathogenic
3	193647363	T	C	T193647363C	OPA1	NM_130837.3(OPA1):c.1870+183T>C	noncoding	Benign
3	193648185	T	G	T193648185G	OPA1	NM_130837.3(OPA1):c.1935+51T>G	noncoding	Benign
3	193648415	A	G	A193648415G	OPA1	NM_130837.3(OPA1):c.1935+281A>G	noncoding	Benign
3	193655004	C	T	C193655004T	OPA1	NM_130837.3(OPA1):c.2155C>T:p.Gln719Ter	coding	Pathogenic
3	193655280	C	G	C193655280G	OPA1	NM_130837.3(OPA1):c.2178+253C>G	noncoding	Benign
3	193657185	G	T	G193657185T	OPA1	NM_130837.3(OPA1):c.2284G>T:p.Glu762Ter	coding	Pathogenic
3	193657194	A	T	A193657194T	OPA1	NM_130837.3(OPA1):c.2293A>T:p.Lys765Ter	coding	Pathogenic
3	193657242	T	C	T193657242C	OPA1	NM_130837.3(OPA1):c.2331+10T>C	noncoding	Benign/Likely_benign
3	193658564	G	A	G193658564A	OPA1	NM_130837.3(OPA1):c.2332-323G>A	noncoding	Benign
3	193658868	C	A	C193658868A	OPA1	NM_130837.3(OPA1):c.2332-19C>A	noncoding	Benign/Likely_benign
3	193662806	T	A	T193662806A	OPA1	NM_130837.3(OPA1):c.2521-16T>A	noncoding	Benign
3	193666154	T	C	T193666154C	OPA1	NM_130837.3(OPA1):c.2779-142T>C	noncoding	Benign
3	193666184	A	G	A193666184G	OPA1	NM_130837.3(OPA1):c.2779-112A>G	noncoding	Benign
3	193666294	A	T	A193666294T	OPA1	NM_130837.3(OPA1):c.2779-2A>T	noncoding	Pathogenic
3	193666332	C	T	C193666332T	OPA1	NM_130837.3(OPA1):c.2815C>T:p.Gln939Ter	coding	Pathogenic
3	193666404	G	C	G193666404C	OPA1	NM_130837.3(OPA1):c.2872+15G>C	noncoding	Benign/Likely_benign
3	193666414	T	A	T193666414A	OPA1	NM_130837.3(OPA1):c.2872+25T>A	noncoding	Benign
3	193667303	T	C	T193667303C	OPA1	NM_130837.3(OPA1):c.2983+23T>C	noncoding	Benign
3	194406005	C	A	C194406005A	ATP13A3	NM_001367549.1(ATP13A3):c.3685G>T:p.Glu1229Ter	coding	Pathogenic
3	194413986	C	G	C194413986G	ATP13A3	NM_001367549.1(ATP13A3):c.3403-147G>C	noncoding	Benign
3	194425519	T	C	T194425519C	ATP13A3	NM_001367549.1(ATP13A3):c.3136A>G:p.Thr1046Ala	coding	Benign
3	194427130	C	T	C194427130T	ATP13A3	NM_001367549.1(ATP13A3):c.3070G>A:p.Gly1024Ser	coding	Benign
3	194427274	G	A	G194427274A	ATP13A3	NM_001367549.1(ATP13A3):c.2948-22C>T	noncoding	Benign
3	194428652	G	A	G194428652A	ATP13A3	NM_001367549.1(ATP13A3):c.2947+193C>T	noncoding	Benign
3	194428952	T	G	T194428952G	ATP13A3	NM_001367549.1(ATP13A3):c.2875-35A>C	noncoding	Benign
3	194428971	G	A	G194428971A	ATP13A3	NM_001367549.1(ATP13A3):c.2875-54C>T	noncoding	Benign
3	194430332	T	C	T194430332C	ATP13A3	NM_001367549.1(ATP13A3):c.2625-17A>G	noncoding	Benign
3	194430472	G	A	G194430472A	ATP13A3	NM_001367549.1(ATP13A3):c.2625-157C>T	noncoding	Benign
3	194431593	T	C	T194431593C	ATP13A3	NM_001367549.1(ATP13A3):c.2421+124A>G	noncoding	Benign
3	194431876	A	G	A194431876G	ATP13A3	NM_001367549.1(ATP13A3):c.2262T>C:p.Thr754=	coding	Benign
3	194431999	G	A	G194431999A	ATP13A3	NM_001367549.1(ATP13A3):c.2246-107C>T	noncoding	Benign
3	194432044	C	G	C194432044G	ATP13A3	NM_001367549.1(ATP13A3):c.2246-152G>C	noncoding	Benign
3	194437281	A	T	A194437281T	ATP13A3	NM_001367549.1(ATP13A3):c.1999+30T>A	noncoding	Benign
3	194437305	C	T	C194437305T	ATP13A3	NM_001367549.1(ATP13A3):c.1999+6G>A	noncoding	Benign
3	194438916	T	C	T194438916C	ATP13A3	NM_001367549.1(ATP13A3):c.1767A>G:p.Thr589=	coding	Benign
3	194438985	A	G	A194438985G	ATP13A3	NM_001367549.1(ATP13A3):c.1711-13T>C	noncoding	Benign
3	194439197	A	G	A194439197G	ATP13A3	NM_001367549.1(ATP13A3):c.1711-225T>C	noncoding	Benign
3	194441682	G	A	G194441682A	ATP13A3	NM_001367549.1(ATP13A3):c.1560-221C>T	noncoding	Benign
3	194444708	G	A	G194444708A	ATP13A3	NM_001367549.1(ATP13A3):c.1559+17C>T	noncoding	Benign
3	194446884	G	A	G194446884A	ATP13A3	NM_001367549.1(ATP13A3):c.1497+43C>T	noncoding	Benign
3	194447771	G	C	G194447771C	ATP13A3	NM_001367549.1(ATP13A3):c.1308+81C>G	noncoding	Benign
3	194448494	G	A	G194448494A	ATP13A3	NM_001367549.1(ATP13A3):c.1113C>T:p.Tyr371=	coding	Benign
3	194453576	G	A	G194453576A	ATP13A3	NM_001367549.1(ATP13A3):c.838+130C>T	noncoding	Benign
3	194455983	C	A	C194455983A	ATP13A3	NM_001367549.1(ATP13A3):c.561-21G>T	noncoding	Benign
3	194459561	G	A	G194459561A	ATP13A3	NM_001367549.1(ATP13A3):c.409-20C>T	noncoding	Benign
3	194459887	T	C	T194459887C	ATP13A3	NM_001367549.1(ATP13A3):c.310A>G:p.Asn104Asp	coding	Benign
3	194459918	A	G	A194459918G	ATP13A3	NM_001367549.1(ATP13A3):c.279T>C:p.Thr93=	coding	Benign
3	194459982	G	A	G194459982A	ATP13A3	NM_001367549.1(ATP13A3):c.226-11C>T	noncoding	Benign
3	194460014	G	T	G194460014T	ATP13A3	NM_001367549.1(ATP13A3):c.226-43C>A	noncoding	Benign
3	194460489	T	C	T194460489C	ATP13A3	NM_001367549.1(ATP13A3):c.225+169A>G	noncoding	Benign
3	194462062	A	C	A194462062C	ATP13A3	NM_001367549.1(ATP13A3):c.51+78T>G	noncoding	Benign
3	194462108	C	T	C194462108T	ATP13A3	NM_001367549.1(ATP13A3):c.51+32G>A	noncoding	Benign
3	195867370	C	G	C195867370G	TNK2	NM_001382273.1(TNK2):c.2928G>C:p.Lys976Asn	coding	Benign
3	195867593	G	T	G195867593T	TNK2	NM_001382273.1(TNK2):c.2705C>A:p.Pro902His	coding	Benign
3	195867987	G	A	G195867987A	TNK2	NM_001382273.1(TNK2):c.2311C>T:p.Leu771=	coding	Benign
3	195868060	C	T	C195868060T	TNK2	NM_001382273.1(TNK2):c.2238G>A:p.Pro746=	coding	Benign
3	195868090	C	T	C195868090T	TNK2	NM_001382273.1(TNK2):c.2208G>A:p.Pro736=	coding	Benign/Likely_benign
3	195868426	C	T	C195868426T	TNK2	NM_001382273.1(TNK2):c.1872G>A:p.Thr624=	coding	Benign
3	195868441	C	T	C195868441T	TNK2	NM_001382273.1(TNK2):c.1857G>A:p.Pro619=	coding	Benign
3	195868489	G	C	G195868489C	TNK2	NM_001382273.1(TNK2):c.1809C>G:p.Ser603=	coding	Benign
3	195868503	G	A	G195868503A	TNK2	NM_001382273.1(TNK2):c.1795C>T:p.Pro599Ser	coding	Benign
3	195868557	C	G	C195868557G	TNK2	NM_001382273.1(TNK2):c.1741G>C:p.Ala581Pro	coding	Benign
3	195868642	C	T	C195868642T	TNK2	NM_001382273.1(TNK2):c.1656G>A:p.Leu552=	coding	Benign
3	195868663	G	A	G195868663A	TNK2	NM_001382273.1(TNK2):c.1635C>T:p.Ser545=	coding	Benign
3	195868687	G	A	G195868687A	TNK2	NM_001382273.1(TNK2):c.1611C>T:p.Ser537=	coding	Benign
3	195868716	T	C	T195868716C	TNK2	NM_001382273.1(TNK2):c.1589-7A>G	noncoding	Benign
3	195869531	T	C	T195869531C	TNK2	NM_001382273.1(TNK2):c.1554A>G:p.Pro518=	coding	Benign
3	195870129	G	C	G195870129C	TNK2	NM_001382273.1(TNK2):c.1528C>G:p.Leu510Val	coding	Benign
3	195870193	T	C	T195870193C	TNK2	NM_001382273.1(TNK2):c.1464A>G:p.Gly488=	coding	Benign
3	195878553	G	A	G195878553A	TNK2	NM_001382273.1(TNK2):c.1054C>T:p.Arg352Trp	coding	Pathogenic
3	195878578	G	A	G195878578A	TNK2	NM_001382273.1(TNK2):c.1029C>T:p.Ile343=	coding	Benign/Likely_benign
3	195878587	C	T	C195878587T	TNK2	NM_001382273.1(TNK2):c.1020G>A:p.Leu340=	coding	Benign
3	195879058	G	A	G195879058A	TNK2	NM_001382273.1(TNK2):c.1005C>T:p.Asn335=	coding	Benign
3	195882110	T	C	T195882110C	TNK2	NM_001382273.1(TNK2):c.828A>G:p.Ala276=	coding	Benign
3	195888496	G	A	G195888496A	TNK2	NM_001382273.1(TNK2):c.93C>T:p.Asn31=	coding	Benign
3	195888544	G	A	G195888544A	TNK2	NM_001382273.1(TNK2):c.45C>T:p.Ser15=	coding	Benign
3	195888612	G	A	G195888612A	TNK2	NM_001382273.1(TNK2):c.-18-6C>T	noncoding	Benign
3	196052101	C	T	C196052101T	TFRC	NM_001128148.3(TFRC):c.2124G>A:p.Thr708=	coding	Benign
3	196052284	C	T	C196052284T	TFRC	NM_001128148.3(TFRC):c.2041-100G>A	noncoding	Benign
3	196053806	C	T	C196053806T	TFRC	NM_001128148.3(TFRC):c.1900-248G>A	noncoding	Benign
3	196053838	G	A	G196053838A	TFRC	NM_001128148.3(TFRC):c.1900-280C>T	noncoding	Benign
3	196055305	C	T	C196055305T	TFRC	NM_001128148.3(TFRC):c.1678-4G>A	noncoding	Benign
3	196055306	A	G	A196055306G	TFRC	NM_001128148.3(TFRC):c.1678-5T>C	noncoding	Benign
3	196055313	C	T	C196055313T	TFRC	NM_001128148.3(TFRC):c.1678-12G>A	noncoding	Benign
3	196055316	G	A	G196055316A	TFRC	NM_001128148.3(TFRC):c.1678-15C>T	noncoding	Benign
3	196058376	A	G	A196058376G	TFRC	NM_001128148.3(TFRC):c.1596-11T>C	noncoding	Benign
3	196058457	C	T	C196058457T	TFRC	NM_001128148.3(TFRC):c.1596-92G>A	noncoding	Benign
3	196060435	T	C	T196060435C	TFRC	NM_001128148.3(TFRC):c.1469-188A>G	noncoding	Benign
3	196060437	C	G	C196060437G	TFRC	NM_001128148.3(TFRC):c.1469-190G>C	noncoding	Benign
3	196062543	T	C	T196062543C	TFRC	NM_001128148.3(TFRC):c.1468+39A>G	noncoding	Benign
3	196062557	C	A	C196062557A	TFRC	NM_001128148.3(TFRC):c.1468+25G>T	noncoding	Benign
3	196062837	G	T	G196062837T	TFRC	NM_001128148.3(TFRC):c.1404+17C>A	noncoding	Benign
3	196063044	A	G	A196063044G	TFRC	NM_001128148.3(TFRC):c.1319-105T>C	noncoding	Benign
3	196063151	A	T	A196063151T	TFRC	NM_001128148.3(TFRC):c.1319-212T>A	noncoding	Benign
3	196064635	A	G	A196064635G	TFRC	NM_001128148.3(TFRC):c.1199-207T>C	noncoding	Benign
3	196064746	C	T	C196064746T	TFRC	NM_001128148.3(TFRC):c.1199-318G>A	noncoding	Benign
3	196065426	G	C	G196065426C	TFRC	NM_001128148.3(TFRC):c.1198+17C>G	noncoding	Benign
3	196065430	G	T	G196065430T	TFRC	NM_001128148.3(TFRC):c.1198+13C>A	noncoding	Benign
3	196065588	T	C	T196065588C	TFRC	NM_001128148.3(TFRC):c.1053A>G:p.Gly351=	coding	Benign
3	196067370	A	T	A196067370T	TFRC	NM_001128148.3(TFRC):c.1040+148T>A	noncoding	Benign
3	196067669	A	C	A196067669C	TFRC	NM_001128148.3(TFRC):c.901-12T>G	noncoding	Benign
3	196068142	C	A	C196068142A	TFRC	NM_001128148.3(TFRC):c.802-12G>T	noncoding	Benign
3	196069178	G	T	G196069178T	TFRC	NM_001128148.3(TFRC):c.801+277C>A	noncoding	Benign
3	196071076	G	C	G196071076C	TFRC	NM_001128148.3(TFRC):c.687+320C>G	noncoding	Benign
3	196071387	T	C	T196071387C	TFRC	NM_001128148.3(TFRC):c.687+9A>G	noncoding	Benign
3	196071420	C	T	C196071420T	TFRC	NM_001128148.3(TFRC):c.663G>A:p.Ala221=	coding	Benign
3	196071449	G	C	G196071449C	TFRC	NM_001128148.3(TFRC):c.634C>G:p.Leu212Val	coding	Benign
3	196073676	C	T	C196073676T	TFRC	NM_001128148.3(TFRC):c.434+254G>A	noncoding	Benign
3	196073732	C	A	C196073732A	TFRC	NM_001128148.3(TFRC):c.434+198G>T	noncoding	Benign
3	196073940	C	T	C196073940T	TFRC	NM_001128148.3(TFRC):c.424G>A:p.Gly142Ser	coding	Benign
3	196073968	C	T	C196073968T	TFRC	NM_001128148.3(TFRC):c.396G>A:p.Ser132=	coding	Benign
3	196074133	G	C	G196074133C	TFRC	NM_001128148.3(TFRC):c.239-8C>G	noncoding	Benign
3	196074154	T	A	T196074154A	TFRC	NM_001128148.3(TFRC):c.239-29A>T	noncoding	Benign
3	196075067	T	A	T196075067A	TFRC	NM_001128148.3(TFRC):c.238+92A>T	noncoding	Benign
3	196075235	G	A	G196075235A	TFRC	NM_001128148.3(TFRC):c.162C>T:p.Ala54=	coding	Benign
3	196075262	T	C	T196075262C	TFRC	NM_001128148.3(TFRC):c.135A>G:p.Glu45=	coding	Benign
3	196075495	A	G	A196075495G	TFRC	NM_001128148.3(TFRC):c.37-135T>C	noncoding	Benign
3	196077150	G	A	G196077150A	TFRC	NM_001128148.3(TFRC):c.-23-28C>T	noncoding	Benign
3	196228843	C	T	C196228843T	SLC51A	NM_152672.6(SLC51A):c.556C>T:p.Gln186Ter	coding	Pathogenic
3	196238638	T	C	T196238638C	PCYT1A	NM_001312673.2(PCYT1A):c.*50A>G	noncoding	Benign
3	196238775	G	A	G196238775A	PCYT1A	NM_001312673.2(PCYT1A):c.1017C>T:p.Ser339=	coding	Benign
3	196238889	A	G	A196238889G	PCYT1A	NM_001312673.2(PCYT1A):c.903T>C:p.His301=	coding	Benign
3	196239387	G	A	G196239387A	PCYT1A	NM_001312673.2(PCYT1A):c.897+160C>T	noncoding	Benign
3	196239535	G	A	G196239535A	PCYT1A	NM_001312673.2(PCYT1A):c.897+12C>T	noncoding	Benign
3	196239594	C	A	C196239594A	PCYT1A	NM_001312673.2(PCYT1A):c.850G>T:p.Glu284Ter	coding	Pathogenic
3	196241772	G	A	G196241772A	PCYT1A	NM_001312673.2(PCYT1A):c.708+176C>T	noncoding	Benign
3	196242315	G	A	G196242315A	PCYT1A	NM_001312673.2(PCYT1A):c.566-225C>T	noncoding	Benign
3	196247310	T	C	T196247310C	PCYT1A	NM_001312673.2(PCYT1A):c.486+57A>G	noncoding	Benign
3	196247530	C	G	C196247530G	PCYT1A	NM_001312673.2(PCYT1A):c.335-12G>C	noncoding	Benign
3	196248065	T	A	T196248065A	PCYT1A	NM_001312673.2(PCYT1A):c.334+142A>T	noncoding	Benign
3	196248298	G	A	G196248298A	PCYT1A	NM_001312673.2(PCYT1A):c.243C>T:p.Ala81=	coding	Benign
3	196248318	G	A	G196248318A	PCYT1A	NM_001312673.2(PCYT1A):c.223C>T:p.Arg75Ter	coding	Pathogenic
3	196295879	T	C	T196295879C	DYNLT2B	NM_152773.5(DYNLT2B):c.381+127A>G	noncoding	Benign
3	196296090	G	T	G196296090T	DYNLT2B	NM_152773.5(DYNLT2B):c.318-21C>A	noncoding	Benign
3	196296136	C	T	C196296136T	DYNLT2B	NM_152773.5(DYNLT2B):c.318-67G>A	noncoding	Benign
3	196315913	T	C	T196315913C	DYNLT2B	NM_152773.5(DYNLT2B):c.247+185A>G	noncoding	Benign
3	196317798	C	G	C196317798G	DYNLT2B	NM_152773.5(DYNLT2B):c.113+242G>C	noncoding	Benign
3	196317854	C	T	C196317854T	DYNLT2B	NM_152773.5(DYNLT2B):c.113+186G>A	noncoding	Benign
3	196318023	G	C	G196318023C	DYNLT2B	NM_152773.5(DYNLT2B):c.113+17C>G	noncoding	Benign
3	196472260	A	C	A196472260C	RNF168	NM_152617.4(RNF168):c.1275T>G:p.Phe425Leu	coding	Benign
3	196472505	C	T	C196472505T	RNF168	NM_152617.4(RNF168):c.1030G>A:p.Ala344Thr	coding	Benign
3	196475331	A	C	A196475331C	RNF168	NM_152617.4(RNF168):c.681-19T>G	noncoding	Benign
3	196483937	T	C	T196483937C	RNF168	NM_152617.4(RNF168):c.559-46A>G	noncoding	Benign
3	196487464	G	A	G196487464A	RNF168	NM_152617.4(RNF168):c.493C>T:p.Arg165Ter	coding	Pathogenic/Likely_pathogenic
3	196487545	C	A	C196487545A	RNF168	NM_152617.4(RNF168):c.412G>T:p.Glu138Ter	coding	Pathogenic
3	196487592	A	C	A196487592C	RNF168	NM_152617.4(RNF168):c.379-14T>G	noncoding	Benign
3	196488678	C	T	C196488678T	RNF168	NM_152617.4(RNF168):c.307G>A:p.Asp103Asn	coding	Benign
3	196659828	T	C	T196659828C	NRROS	NM_198565.3(NRROS):c.185T>C:p.Leu62Pro	coding	Pathogenic
3	196659953	C	T	C196659953T	NRROS	NM_198565.3(NRROS):c.310C>T:p.Gln104Ter	coding	Pathogenic
3	196660093	C	G	C196660093G	NRROS	NM_198565.3(NRROS):c.450C>G:p.Ala150=	coding	Benign
3	196708663	T	C	T196708663C	CEP19	NM_032898.5(CEP19):c.-6A>G	coding	Benign
3	196820520	G	A	G196820520A	PAK2	NM_002577.4(PAK2):c.1303G>A:p.Glu435Lys	coding	Pathogenic
3	197682470	G	A	G197682470A	RUBCN	NM_014687.4(RUBCN):c.2126C>T:p.Thr709Met	coding	Benign/Likely_benign
3	197950795	G	A	G197950795A	RPL35A	NM_000996.4(RPL35A):c.-32-141G>A	noncoding	Benign
3	197954120	T	C	T197954120C	RPL35A	NM_000996.4(RPL35A):c.282T>C:p.Ala94=	coding	Benign/Likely_benign
3	197954356	C	A	C197954356A	RPL35A	NM_000996.4(RPL35A):c.309+209C>A	noncoding	Benign
3	197955684	C	T	C197955684T	RPL35A	NM_000996.4(RPL35A):c.310-66C>T	noncoding	Benign
4	500593	C	T	C500593T	PIGG	NM_001127178.3(PIGG):c.352C>T:p.Arg118Ter	coding	Pathogenic
4	505650	T	A	T505650A	PIGG	NM_001127178.3(PIGG):c.361-68T>A	noncoding	Benign
4	505928	G	A	G505928A	PIGG	NM_001127178.3(PIGG):c.570+1G>A	coding	Pathogenic
4	506842	A	G	A506842G	PIGG	NM_001127178.3(PIGG):c.571-563A>G	noncoding	Benign
4	507422	G	A	G507422A	PIGG	NM_001127178.3(PIGG):c.588G>A:p.Thr196=	coding	Benign
4	507457	G	A	G507457A	PIGG	NM_001127178.3(PIGG):c.623G>A:p.Trp208Ter	coding	Pathogenic
4	507458	G	A	G507458A	PIGG	NM_001127178.3(PIGG):c.624G>A:p.Trp208Ter	coding	Pathogenic
4	507474	C	T	C507474T	PIGG	NM_001127178.3(PIGG):c.640C>T:p.His214Tyr	coding	Pathogenic
4	507606	G	A	G507606A	PIGG	NM_001127178.3(PIGG):c.759+13G>A	noncoding	Benign
4	507609	G	A	G507609A	PIGG	NM_001127178.3(PIGG):c.759+16G>A	noncoding	Benign/Likely_benign
4	507684	C	A	C507684A	PIGG	NM_001127178.3(PIGG):c.759+91C>A	noncoding	Benign
4	509122	T	C	T509122C	PIGG	NM_001127178.3(PIGG):c.901+152T>C	noncoding	Benign
4	515957	G	A	G515957A	PIGG	NM_001127178.3(PIGG):c.902-16G>A	noncoding	Benign
4	516200	C	T	C516200T	PIGG	NM_001127178.3(PIGG):c.1114+15C>T	noncoding	Benign/Likely_benign
4	520813	A	G	A520813G	PIGG	NM_001127178.3(PIGG):c.1115-243A>G	noncoding	Benign
4	520836	C	T	C520836T	PIGG	NM_001127178.3(PIGG):c.1115-220C>T	noncoding	Benign
4	520840	A	G	A520840G	PIGG	NM_001127178.3(PIGG):c.1115-216A>G	noncoding	Benign
4	521172	C	T	C521172T	PIGG	NM_001127178.3(PIGG):c.1231C>T:p.Gln411Ter	coding	Pathogenic
4	521454	A	G	A521454G	PIGG	NM_001127178.3(PIGG):c.1332+181A>G	noncoding	Benign
4	521700	G	A	G521700A	PIGG	NM_001127178.3(PIGG):c.1373G>A:p.Arg458His	coding	Benign
4	523174	C	G	C523174G	PIGG	NM_001127178.3(PIGG):c.1615-285C>G	noncoding	Benign
4	523353	T	C	T523353C	PIGG	NM_001127178.3(PIGG):c.1615-106T>C	noncoding	Benign
4	523409	G	A	G523409A	PIGG	NM_001127178.3(PIGG):c.1615-50G>A	noncoding	Benign
4	523484	G	A	G523484A	PIGG	NM_001127178.3(PIGG):c.1640G>A:p.Trp547Ter	coding	Pathogenic
4	523587	T	C	T523587C	PIGG	NM_001127178.3(PIGG):c.1743T>C:p.Leu581=	coding	Benign
4	523672	T	C	T523672C	PIGG	NM_001127178.3(PIGG):c.1828T>C:p.Cys610Arg	coding	Benign
4	523833	C	T	C523833T	PIGG	NM_001127178.3(PIGG):c.1989C>T:p.Ala663=	coding	Benign
4	523929	C	T	C523929T	PIGG	NM_001127178.3(PIGG):c.2069+16C>T	noncoding	Benign/Likely_benign
4	527064	G	A	G527064A	PIGG	NM_001127178.3(PIGG):c.2095G>A:p.Val699Ile	coding	Benign
4	527279	A	T	A527279T	PIGG	NM_001127178.3(PIGG):c.2261+49A>T	noncoding	Benign
4	527294	G	T	G527294T	PIGG	NM_001127178.3(PIGG):c.2261+64G>T	noncoding	Benign
4	527313	C	T	C527313T	PIGG	NM_001127178.3(PIGG):c.2261+83C>T	noncoding	Benign
4	530190	G	A	G530190A	PIGG	NM_001127178.3(PIGG):c.2262-246G>A	noncoding	Benign
4	530226	G	A	G530226A	PIGG	NM_001127178.3(PIGG):c.2262-210G>A	noncoding	Benign
4	530920	C	G	C530920G	PIGG	NM_001127178.3(PIGG):c.2571+175C>G	noncoding	Benign
4	530949	T	G	T530949G	PIGG	NM_001127178.3(PIGG):c.2571+204T>G	noncoding	Benign
4	533544	T	C	T533544C	PIGG	NM_001127178.3(PIGG):c.2572-274T>C	noncoding	Benign
4	533630	T	C	T533630C	PIGG	NM_001127178.3(PIGG):c.2572-188T>C	noncoding	Benign
4	533745	G	A	G533745A	PIGG	NM_001127178.3(PIGG):c.2572-73G>A	noncoding	Benign
4	533888	T	C	T533888C	PIGG	NM_001127178.3(PIGG):c.2642T>C:p.Ile881Thr	coding	Benign
4	539023	A	G	A539023G	PIGG	NM_001127178.3(PIGG):c.2736-130A>G	noncoding	Benign
4	539212	T	C	T539212C	PIGG	NM_001127178.3(PIGG):c.2795T>C:p.Phe932Ser	coding	Benign
4	539289	G	T	G539289T	PIGG	NM_001127178.3(PIGG):c.2872G>T:p.Glu958Ter	coding	Pathogenic
4	539610	G	A	G539610A	PIGG	NM_001127178.3(PIGG):c.*241G>A	noncoding	Benign
4	625470	T	C	T625470C	PDE6B	Single_allele	noncoding	Benign
4	625888	C	T	C625888T	PDE6B	NM_000283.4(PDE6B):c.262C>T:p.Gln88Ter	coding	Pathogenic
4	626207	C	T	C626207T	PDE6B	NM_000283.4(PDE6B):c.468+113C>T	noncoding	Benign
4	634386	T	G	T634386G	PDE6B	NM_000283.4(PDE6B):c.469-291T>G	noncoding	Benign
4	634467	C	T	C634467T	PDE6B	NM_000283.4(PDE6B):c.469-210C>T	noncoding	Benign
4	634718	C	G	C634718G	PDE6B	NM_000283.4(PDE6B):c.510C>G:p.Tyr170Ter	coding	Pathogenic
4	634904	C	T	C634904T	PDE6B	NM_000283.4(PDE6B):c.621+75C>T	noncoding	Benign
4	635980	G	A	G635980A	PDE6B	NM_000283.4(PDE6B):c.711+11G>A	noncoding	Benign
4	653714	G	C	G653714C	PDE6B	NM_000283.4(PDE6B):c.712-138G>C	noncoding	Benign
4	653717	A	G	A653717G	PDE6B	NM_000283.4(PDE6B):c.712-135A>G	noncoding	Benign
4	653813	G	A	G653813A	PDE6B	NM_000283.4(PDE6B):c.712-39G>A	noncoding	Benign
4	654003	C	T	C654003T	PDE6B	NM_000283.4(PDE6B):c.852+11C>T	noncoding	Benign
4	654007	G	A	G654007A	PDE6B	NM_000283.4(PDE6B):c.852+15G>A	noncoding	Benign/Likely_benign
4	654079	G	A	G654079A	PDE6B;PDE6B-AS1	NM_000283.4(PDE6B):c.853-1G>A	noncoding	Pathogenic
4	654649	G	A	G654649A	PDE6B	NM_000283.4(PDE6B):c.928-175G>A	noncoding	Benign/Likely_benign
4	654920	G	C	G654920C	PDE6B	NM_000283.4(PDE6B):c.992+32G>C	noncoding	Benign
4	655808	G	C	G655808C	PDE6B	NM_000283.4(PDE6B):c.993-132G>C	noncoding	Benign
4	655850	C	A	C655850A	PDE6B	NM_000283.4(PDE6B):c.993-90C>A	noncoding	Benign
4	656087	C	T	C656087T	PDE6B	NM_000283.4(PDE6B):c.1059+81C>T	noncoding	Benign
4	656404	G	T	G656404T	PDE6B	NM_000283.4(PDE6B):c.1107+112G>T	noncoding	Benign
4	656669	G	A	G656669A	PDE6B	NM_000283.4(PDE6B):c.1108-205G>A	noncoding	Benign
4	656899	G	A	G656899A	PDE6B	NM_000283.4(PDE6B):c.1133G>A:p.Trp378Ter	coding	Pathogenic
4	656900	G	A	G656900A	PDE6B	NM_000283.4(PDE6B):c.1134G>A:p.Trp378Ter	coding	Pathogenic
4	656926	C	T	C656926T	PDE6B	NM_000283.4(PDE6B):c.1160C>T:p.Pro387Leu	coding	Pathogenic
4	656960	C	T	C656960T	PDE6B	NM_000283.4(PDE6B):c.1194C>T:p.Val398=	coding	Benign
4	657374	G	A	G657374A	PDE6B	NM_000283.4(PDE6B):c.1281G>A:p.Trp427Ter	coding	Pathogenic
4	657467	C	T	C657467T	PDE6B	NM_000283.4(PDE6B):c.1374C>T:p.Cys458=	coding	Benign
4	657890	C	T	C657890T	PDE6B	NM_000283.4(PDE6B):c.1401+396C>T	noncoding	Benign
4	659094	G	A	G659094A	PDE6B	NM_000283.4(PDE6B):c.1467+77G>A	noncoding	Benign
4	660856	A	G	A660856G	PDE6B	NM_000283.4(PDE6B):c.1614+243A>G	noncoding	Benign
4	661913	A	G	A661913G	PDE6B	NM_000283.4(PDE6B):c.1615-221A>G	noncoding	Benign
4	662092	C	G	C662092G	PDE6B	NM_000283.4(PDE6B):c.1615-42C>G	noncoding	Benign
4	662133	G	C	G662133C	PDE6B	NM_000283.4(PDE6B):c.1615-1G>C	noncoding	Pathogenic
4	662144	G	A	G662144A	PDE6B	NM_000283.4(PDE6B):c.1625G>A:p.Arg542Gln	coding	Benign
4	662197	C	T	C662197T	PDE6B	NM_000283.4(PDE6B):c.1678C>T:p.Arg560Cys	coding	Pathogenic/Likely_pathogenic
4	662584	G	A	G662584A	PDE6B	NM_000283.4(PDE6B):c.1798G>A:p.Asp600Asn	coding	Pathogenic/Likely_pathogenic
4	662592	C	T	C662592T	PDE6B	NM_000283.4(PDE6B):c.1806C>T:p.Arg602=	coding	Benign/Likely_benign
4	662815	G	T	G662815T	PDE6B	NM_000283.4(PDE6B):c.1832+197G>T	noncoding	Benign
4	663577	A	G	A663577G	PDE6B	NM_000283.4(PDE6B):c.1921-193A>G	noncoding	Benign
4	664130	C	T	C664130T	PDE6B	NM_000283.4(PDE6B):c.2038C>T:p.Gln680Ter	coding	Pathogenic
4	664237	G	A	G664237A	PDE6B	NM_000283.4(PDE6B):c.2129+16G>A	noncoding	Benign
4	664515	G	T	G664515T	PDE6B	NM_000283.4(PDE6B):c.2129+294G>T	noncoding	Benign
4	664880	G	A	G664880A	PDE6B	NM_000283.4(PDE6B):c.2130-1G>A	noncoding	Pathogenic
4	664891	A	T	A664891T	PDE6B	NM_000283.4(PDE6B):c.2140A>T:p.Met714Leu	coding	Pathogenic/Likely_pathogenic
4	665242	C	A	C665242A	PDE6B	NM_000283.4(PDE6B):c.2194-13C>A	noncoding	Benign
4	665318	C	T	C665318T	PDE6B	NM_000283.4(PDE6B):c.2257C>T:p.Gln753Ter	coding	Pathogenic
4	665349	C	A	C665349A	PDE6B	NM_000283.4(PDE6B):c.2268+20C>A	noncoding	Benign
4	665582	G	A	G665582A	PDE6B	NM_000283.4(PDE6B):c.2268+253G>A	noncoding	Benign
4	667958	A	T	A667958T	PDE6B	NM_000283.4(PDE6B):c.2455A>T:p.Lys819Ter	coding	Pathogenic
4	668142	C	T	C668142T	PDE6B	NM_000283.4(PDE6B):c.2503+136C>T	noncoding	Benign
4	668166	G	A	G668166A	PDE6B	NM_000283.4(PDE6B):c.2503+160G>A	noncoding	Benign
4	786498	C	G	C786498G	CPLX1	NM_006651.4(CPLX1):c.*3G>C	noncoding	Benign
4	786591	G	T	G786591T	CPLX1	NM_006651.4(CPLX1):c.315C>A:p.Cys105Ter	coding	Pathogenic/Likely_pathogenic
4	792613	T	C	T792613C	CPLX1	NM_006651.4(CPLX1):c.32-5A>G	noncoding	Benign
4	792720	T	C	T792720C	CPLX1	NM_006651.4(CPLX1):c.32-112A>G	noncoding	Benign
4	849932	T	C	T849932C	GAK	NM_005255.4(GAK):c.3794A>G:p.Lys1265Arg	coding	Benign
4	950422	A	C	A950422C	TMEM175	NM_032326.4(TMEM175):c.194A>C:p.Gln65Pro	coding	Benign
4	958159	T	C	T958159C	TMEM175	NM_032326.4(TMEM175):c.1178T>C:p.Met393Thr	coding	Benign
4	966543	C	G	C966543G	DGKQ	NM_001347.4(DGKQ):c.1367-16G>C	noncoding	Benign
4	979248	C	T	C979248T	SLC26A1	NM_134425.4(SLC26A1):c.*158G>A	noncoding	Benign
4	979583	G	A	G979583A	SLC26A1	NM_134425.4(SLC26A1):c.577-79C>T	noncoding	Benign
4	987131	C	A	C987131A	IDUA	NM_000203.5(IDUA):c.47C>A:p.Ser16Ter	coding	Pathogenic
4	987243	G	A	G987243A	IDUA	NM_000203.5(IDUA):c.158+1G>A	coding	Pathogenic
4	987809	C	A	C987809A	IDUA	NM_000203.5(IDUA):c.159C>A:p.Cys53Ter	coding	Pathogenic
4	987837	C	T	C987837T	IDUA	NM_000203.5(IDUA):c.187C>T:p.Gln63Ter	coding	Pathogenic
4	987886	C	T	C987886T	IDUA	NM_000203.5(IDUA):c.236C>T:p.Ala79Val	coding	Pathogenic
4	988559	C	T	C988559T	SLC26A1	NM_022042.4(SLC26A1):c.*274G>A	coding	Benign
4	989064	G	A	G989064A	SLC26A1	NM_022042.4(SLC26A1):c.1875C>T:p.Ala625=	coding	Benign
4	989226	G	C	G989226C	SLC26A1	NM_022042.4(SLC26A1):c.1713C>G:p.Ala571=	coding	Benign
4	989253	C	T	C989253T	SLC26A1	NM_022042.4(SLC26A1):c.1686G>A:p.Thr562=	coding	Benign
4	989262	G	A	G989262A	SLC26A1	NM_022042.4(SLC26A1):c.1677C>T:p.Tyr559=	coding	Benign
4	989272	T	C	T989272C	SLC26A1	NM_022042.4(SLC26A1):c.1667A>G:p.Gln556Arg	coding	Benign
4	989390	C	T	C989390T	SLC26A1	NM_022042.4(SLC26A1):c.1549G>A:p.Gly517Arg	coding	Benign/Likely_benign
4	989606	C	T	C989606T	SLC26A1	NM_022042.4(SLC26A1):c.1333G>A:p.Val445Ile	coding	Benign
4	989837	C	T	C989837T	SLC26A1	NM_022042.4(SLC26A1):c.1102G>A:p.Gly368Ser	coding	Benign
4	989880	G	A	G989880A	SLC26A1	NM_022042.4(SLC26A1):c.1059C>T:p.Ala353=	coding	Benign
4	989896	A	G	A989896G	IDUA;SLC26A1	NM_000203.5(IDUA):c.299+1947A>G	coding	Benign/Likely_benign
4	990021	C	T	C990021T	SLC26A1	NM_022042.4(SLC26A1):c.918G>A:p.Ser306=	coding	Benign
4	990285	C	T	C990285T	SLC26A1	NM_022042.4(SLC26A1):c.654G>A:p.Gly218=	coding	Benign
4	990300	A	G	A990300G	SLC26A1	NM_022042.4(SLC26A1):c.639T>C:p.Asp213=	coding	Benign
4	990377	C	T	C990377T	SLC26A1	NM_022042.4(SLC26A1):c.577-15G>A	noncoding	Benign
4	990482	C	T	C990482T	SLC26A1	NM_022042.4(SLC26A1):c.577-120G>A	noncoding	Benign
4	990546	T	C	T990546C	SLC26A1	NM_022042.4(SLC26A1):c.577-184A>G	noncoding	Benign
4	990625	G	A	G990625A	SLC26A1	NM_022042.4(SLC26A1):c.577-263C>T	noncoding	Benign
4	991039	T	G	T991039G	SLC26A1	NM_022042.4(SLC26A1):c.576+89A>C	noncoding	Benign
4	991082	G	C	G991082C	SLC26A1	NM_022042.4(SLC26A1):c.576+46C>G	noncoding	Benign
4	991523	G	A	G991523A	SLC26A1	NM_022042.4(SLC26A1):c.181C>T:p.Arg61Cys	coding	Benign
4	991581	G	C	G991581C	SLC26A1	NM_022042.4(SLC26A1):c.123C>G:p.Cys41Trp	coding	Benign/Likely_benign
4	991939	A	G	A991939G	IDUA;SLC26A1	NM_000203.5(IDUA):c.299+3990A>G	noncoding	Benign
4	992038	C	T	C992038T	SLC26A1	NM_022042.4(SLC26A1):c.-27-308G>A	noncoding	Benign
4	1012545	G	A	G1012545A	FGFRL1	NM_001004356.3(FGFRL1):c.60G>A:p.Pro20=	coding	Benign
4	1023731	G	C	G1023731C	FGFRL1	NM_001004356.3(FGFRL1):c.433+10G>C	noncoding	Benign
4	1024483	T	C	T1024483C	FGFRL1	NM_001004356.3(FGFRL1):c.891T>C:p.Asp297=	coding	Benign
4	1024917	C	A	C1024917A	FGFRL1	NM_001004356.3(FGFRL1):c.1085C>A:p.Pro362Gln	coding	Benign
4	1025103	G	T	G1025103T	FGFRL1	NM_001004356.3(FGFRL1):c.1271G>T:p.Arg424Leu	coding	Benign
4	1025223	C	T	C1025223T	FGFRL1	NM_001004356.3(FGFRL1):c.1391C>T:p.Pro464Leu	coding	Benign
4	1025306	G	A	G1025306A	FGFRL1	NM_001004356.3(FGFRL1):c.1474G>A:p.Val492Met	coding	Benign
4	1093477	T	C	T1093477C	RNF212	NM_001131034.4(RNF212):c.247-2639A>G	coding	Benign
4	1212316	T	A	T1212316A	CTBP1	NM_001012614.2(CTBP1):c.1214A>T:p.His405Leu	coding	Benign/Likely_benign
4	1212339	G	T	G1212339T	CTBP1	NM_001012614.2(CTBP1):c.1191C>A:p.Ser397=	coding	Benign
4	1213459	G	A	G1213459A	CTBP1	NM_001012614.2(CTBP1):c.988+19C>T	noncoding	Benign
4	1213465	C	T	C1213465T	CTBP1	NM_001012614.2(CTBP1):c.988+13G>A	noncoding	Benign
4	1223481	G	A	G1223481A	CTBP1	NM_001012614.2(CTBP1):c.514+1879C>T	noncoding	Benign
4	1225388	G	A	G1225388A	CTBP1	NM_001012614.2(CTBP1):c.486C>T:p.Arg162=	coding	Benign
4	1793606	C	T	C1793606T	FGFR3	NM_000142.5(FGFR3):c.-103+141C>T	noncoding	Benign
4	1794217	T	C	T1794217C	FGFR3	NM_000142.5(FGFR3):c.109+174T>C	noncoding	Benign
4	1794352	C	T	C1794352T	FGFR3	NM_000142.5(FGFR3):c.109+309C>T	noncoding	Benign
4	1801350	C	T	C1801350T	FGFR3	NM_000142.5(FGFR3):c.446-17C>T	noncoding	Benign
4	1801411	C	G	C1801411G	FGFR3	NM_000142.5(FGFR3):c.490C>G:p.Leu164Val	coding	Benign/Likely_benign
4	1801643	G	A	G1801643A	FGFR3	NM_000142.5(FGFR3):c.639G>A:p.Leu213=	coding	Benign
4	1801688	C	T	C1801688T	FGFR3	NM_000142.5(FGFR3):c.684C>T:p.Cys228=	coding	Benign
4	1801758	G	T	G1801758T	FGFR3	NM_000142.5(FGFR3):c.739+15G>T	noncoding	Benign
4	1801897	G	T	G1801897T	FGFR3	NM_000142.5(FGFR3):c.802G>T:p.Gly268Cys	coding	Pathogenic
4	1802007	C	G	C1802007G	FGFR3	NM_000142.5(FGFR3):c.912C>G:p.Pro304=	coding	Benign/Likely_benign
4	1802199	T	C	T1802199C	FGFR3	NM_000142.5(FGFR3):c.930+174T>C	noncoding	Benign
4	1802243	G	A	G1802243A	FGFR3	NM_000142.5(FGFR3):c.930+218G>A	noncoding	Benign
4	1804072	T	C	T1804072C	FGFR3	NM_000142.5(FGFR3):c.1075+236T>C	noncoding	Benign
4	1804481	C	T	C1804481T	FGFR3	NM_000142.5(FGFR3):c.1227C>T:p.Pro409=	coding	Benign/Likely_benign
4	1804842	G	A	G1804842A	FGFR3	NM_000142.5(FGFR3):c.1285G>A:p.Ala429Thr	coding	Benign/Likely_benign
4	1804844	G	A	G1804844A	FGFR3	NM_000142.5(FGFR3):c.1287G>A:p.Ala429=	coding	Benign
4	1805335	C	T	C1805335T	FGFR3	NM_000142.5(FGFR3):c.1413-20C>T	noncoding	Benign
4	1805391	C	T	C1805391T	FGFR3	NM_000142.5(FGFR3):c.1449C>T:p.Phe483=	coding	Benign
4	1805733	G	A	G1805733A	FGFR3	NM_000142.5(FGFR3):c.1646-17G>A	noncoding	Benign/Likely_benign
4	1805775	C	T	C1805775T	FGFR3	NM_000142.5(FGFR3):c.1671C>T:p.Tyr557=	coding	Benign/Likely_benign
4	1805790	C	T	C1805790T	FGFR3	NM_000142.5(FGFR3):c.1686C>T:p.Asn562=	coding	Benign
4	1806149	C	T	C1806149T	FGFR3	NM_000142.5(FGFR3):c.1935C>T:p.Leu645=	coding	Benign
4	1806167	G	A	G1806167A	FGFR3	NM_000142.5(FGFR3):c.1953G>A:p.Thr651=	coding	Benign
4	1806168	A	G	A1806168G	FGFR3	NM_000142.5(FGFR3):c.1954A>G:p.Thr652Ala	coding	Pathogenic
4	1806188	G	C	G1806188C	FGFR3	NM_000142.5(FGFR3):c.1959+15G>C	noncoding	Benign
4	1806244	C	T	C1806244T	FGFR3	NM_000142.5(FGFR3):c.1960-13C>T	noncoding	Benign
4	1806664	G	A	G1806664A	FGFR3	NM_000142.5(FGFR3):c.2149G>A:p.Ala717Thr	coding	Benign/Likely_benign
4	1807298	A	G	A1807298G	FGFR3	NM_000142.5(FGFR3):c.*36A>G	noncoding	Benign
4	1807446	C	T	C1807446T	FGFR3	NM_000142.5(FGFR3):c.*184C>T	noncoding	Benign
4	1814582	G	C	G1814582C	LETM1	NM_012318.3(LETM1):c.2071-9C>G	noncoding	Pathogenic
4	1816867	C	T	C1816867T	LETM1	NM_012318.3(LETM1):c.1791G>A:p.Lys597=	coding	Benign
4	1822293	C	T	C1822293T	LETM1	NM_012318.3(LETM1):c.1496G>A:p.Arg499His	coding	Benign
4	1825625	C	G	C1825625G	LETM1	NM_012318.3(LETM1):c.1139G>C:p.Arg380Pro	coding	Pathogenic
4	1832752	C	T	C1832752T	LETM1	NM_012318.3(LETM1):c.1072G>A:p.Asp358Asn	coding	Pathogenic
4	1832926	G	A	G1832926A	LETM1	NM_012318.3(LETM1):c.898C>T:p.Pro300Ser	coding	Pathogenic
4	1832939	T	C	T1832939C	LETM1	NM_012318.3(LETM1):c.885A>G:p.Glu295=	coding	Benign
4	1832943	C	T	C1832943T	LETM1	NM_012318.3(LETM1):c.881G>A:p.Arg294Gln	coding	Pathogenic
4	1832946	A	T	A1832946T	LETM1	NM_012318.3(LETM1):c.878T>A:p.Ile293Asn	coding	Pathogenic
4	1836582	G	A	G1836582A	LETM1	NM_012318.3(LETM1):c.595-10C>T	noncoding	Benign
4	1841334	A	G	A1841334G	LETM1	NM_012318.3(LETM1):c.594+13T>C	noncoding	Benign
4	1841597	C	T	C1841597T	LETM1	NM_012318.3(LETM1):c.344G>A:p.Arg115His	coding	Benign
4	1841615	T	C	T1841615C	LETM1	NM_012318.3(LETM1):c.326A>G:p.His109Arg	coding	Benign
4	1855911	G	A	G1855911A	LETM1	NM_012318.3(LETM1):c.40C>T:p.Pro14Ser	coding	Benign
4	1855939	G	C	G1855939C	LETM1	NM_012318.3(LETM1):c.12C>G:p.Ile4Met	coding	Benign
4	1904196	C	A	C1904196A	NSD2	NM_001042424.3(NSD2):c.598-20C>A	noncoding	Benign
4	1904270	T	C	T1904270C	NSD2	NM_001042424.3(NSD2):c.652T>C:p.Leu218=	coding	Benign
4	1904282	G	A	G1904282A	NSD2	NM_001042424.3(NSD2):c.664G>A:p.Val222Ile	coding	Benign
4	1917014	C	T	C1917014T	NSD2	NM_001042424.3(NSD2):c.904C>T:p.Pro302Ser	coding	Benign
4	1918260	G	C	G1918260C	NSD2	NM_001042424.3(NSD2):c.1047G>C:p.Val349=	coding	Benign
4	1918462	G	A	G1918462A	NSD2	NM_001042424.3(NSD2):c.1249G>A:p.Asp417Asn	coding	Benign
4	1951223	C	T	C1951223T	NSD2	NM_001042424.3(NSD2):c.2013+20C>T	noncoding	Benign
4	1952089	G	A	G1952089A	NSD2	NM_001042424.3(NSD2):c.2014-19G>A	noncoding	Benign
4	1953346	T	C	T1953346C	NSD2	NM_001042424.3(NSD2):c.2160T>C:p.Cys720=	coding	Benign
4	1955174	G	T	G1955174T	NSD2	NM_001042424.3(NSD2):c.2352G>T:p.Arg784=	coding	Benign
4	1955320	G	A	G1955320A	NSD2	NM_001042424.3(NSD2):c.2498G>A:p.Trp833Ter	coding	Pathogenic
4	1956110	C	T	C1956110T	NSD2	NM_001042424.3(NSD2):c.2803C>T:p.Arg935Ter	coding	Pathogenic
4	1956121	G	A	G1956121A	NSD2	NM_001042424.3(NSD2):c.2814G>A:p.Pro938=	coding	Benign
4	1956205	A	G	A1956205G	NSD2	NM_001042424.3(NSD2):c.2881+17A>G	noncoding	Benign
4	1957938	C	T	C1957938T	NSD2	NM_001042424.3(NSD2):c.2887C>T:p.Gln963Ter	coding	Pathogenic
4	1959457	C	T	C1959457T	NSD2	NM_001042424.3(NSD2):c.2986-14C>T	noncoding	Benign
4	1959501	T	C	T1959501C	NSD2	NM_001042424.3(NSD2):c.3016T>C:p.Tyr1006His	coding	Benign
4	1959541	A	G	A1959541G	NSD2	NM_001042424.3(NSD2):c.3056A>G:p.Lys1019Arg	coding	Pathogenic
4	1959759	T	C	T1959759C	NSD2	NM_001042424.3(NSD2):c.3255+19T>C	noncoding	Benign
4	1974900	C	T	C1974900T	NSD2	NM_001042424.3(NSD2):c.3410C>T:p.Ser1137Phe	coding	Pathogenic
4	1974902	C	T	C1974902T	NSD2	NM_001042424.3(NSD2):c.3412C>T:p.Arg1138Ter	coding	Pathogenic
4	1976573	C	T	C1976573T	NSD2	NM_001042424.3(NSD2):c.3720C>T:p.Asp1240=	coding	Benign
4	1978619	A	G	A1978619G	NSD2	NM_001042424.3(NSD2):c.3827-19A>G	noncoding	Benign
4	1978619	A	T	A1978619T	NSD2	NM_001042424.3(NSD2):c.3827-19A>T	noncoding	Benign
4	1978803	C	T	C1978803T	NSD2	NM_001042424.3(NSD2):c.3992C>T:p.Ala1331Val	coding	Benign
4	1978834	C	T	C1978834T	NSD2	NM_001042424.3(NSD2):c.4023C>T:p.Pro1341=	coding	Benign
4	2812421	A	G	A2812421G	SH3BP2	NM_001122681.2(SH3BP2):c.-4-8193A>G	coding	Benign
4	2818442	C	G	C2818442G	SH3BP2	NM_001122681.2(SH3BP2):c.-4-2172C>G	noncoding	Benign
4	2818534	G	A	G2818534A	SH3BP2	NM_001122681.2(SH3BP2):c.-4-2080G>A	noncoding	Benign
4	2820435	G	A	G2820435A	SH3BP2	NM_001122681.2(SH3BP2):c.-4-179G>A	noncoding	Benign
4	2820562	C	A	C2820562A	SH3BP2	NM_001122681.2(SH3BP2):c.-4-52C>A	noncoding	Benign
4	2820580	T	C	T2820580C	SH3BP2	NM_001122681.2(SH3BP2):c.-4-34T>C	noncoding	Benign
4	2820714	C	T	C2820714T	SH3BP2	NM_001122681.2(SH3BP2):c.97C>T:p.Leu33=	coding	Benign/Likely_benign
4	2820948	C	T	C2820948T	SH3BP2	NM_001122681.2(SH3BP2):c.136+195C>T	noncoding	Benign
4	2823121	T	A	T2823121A	SH3BP2	NM_001122681.2(SH3BP2):c.239+84T>A	noncoding	Benign
4	2827044	T	G	T2827044G	SH3BP2	NM_001122681.2(SH3BP2):c.429-186T>G	noncoding	Benign
4	2827350	T	C	T2827350C	SH3BP2	NM_001122681.2(SH3BP2):c.517+32T>C	noncoding	Benign
4	2827588	C	A	C2827588A	SH3BP2	NM_001122681.2(SH3BP2):c.518-18C>A	noncoding	Benign
4	2827588	C	T	C2827588T	SH3BP2	NM_001122681.2(SH3BP2):c.518-18C>T	noncoding	Benign
4	2827751	G	C	G2827751C	SH3BP2	NM_001122681.2(SH3BP2):c.586+77G>C	noncoding	Benign
4	2829455	C	G	C2829455G	SH3BP2	NM_001122681.2(SH3BP2):c.587-38C>G	noncoding	Benign
4	2829512	G	A	G2829512A	SH3BP2	NM_001122681.2(SH3BP2):c.606G>A:p.Pro202=	coding	Benign
4	2830162	C	T	C2830162T	SH3BP2	NM_001122681.2(SH3BP2):c.1241+15C>T	noncoding	Benign
4	2830167	G	T	G2830167T	SH3BP2	NM_001122681.2(SH3BP2):c.1241+20G>T	noncoding	Benign
4	2830187	C	G	C2830187G	SH3BP2	NM_001122681.2(SH3BP2):c.1241+40C>G	noncoding	Benign
4	2830191	G	A	G2830191A	SH3BP2	NM_001122681.2(SH3BP2):c.1241+44G>A	noncoding	Benign
4	2831362	A	C	A2831362C	SH3BP2	NM_001122681.2(SH3BP2):c.1242-209A>C	noncoding	Benign
4	2831401	G	A	G2831401A	SH3BP2	NM_001122681.2(SH3BP2):c.1242-170G>A	noncoding	Benign
4	2831499	G	C	G2831499C	SH3BP2	NM_001122681.2(SH3BP2):c.1242-72G>C	noncoding	Benign
4	2831773	T	C	T2831773C	SH3BP2	NM_001122681.2(SH3BP2):c.1350+94T>C	noncoding	Benign
4	2831907	C	T	C2831907T	SH3BP2	NM_001122681.2(SH3BP2):c.1351-16C>T	noncoding	Benign
4	2831992	C	A	C2831992A	SH3BP2	NM_001122681.2(SH3BP2):c.1406+14C>A	noncoding	Benign
4	2832239	G	A	G2832239A	SH3BP2	NM_001122681.2(SH3BP2):c.1407-92G>A	noncoding	Benign
4	2832312	T	C	T2832312C	SH3BP2	NM_001122681.2(SH3BP2):c.1407-19T>C	noncoding	Benign
4	2832503	A	G	A2832503G	SH3BP2	NM_001122681.2(SH3BP2):c.1488+91A>G	noncoding	Benign
4	2832827	C	T	C2832827T	SH3BP2	NM_001122681.2(SH3BP2):c.1489-163C>T	noncoding	Benign
4	2832974	C	T	C2832974T	SH3BP2	NM_001122681.2(SH3BP2):c.1489-16C>T	noncoding	Benign
4	2832985	T	C	T2832985C	SH3BP2	NM_001122681.2(SH3BP2):c.1489-5T>C	noncoding	Benign
4	2833690	C	T	C2833690T	SH3BP2	NM_001122681.2(SH3BP2):c.1549-7C>T	noncoding	Benign
4	3086993	A	C	A3086993C	HTT	NM_001388492.1(HTT):c.318A>C:p.Ile106=	coding	Benign
4	3103859	C	T	C3103859T	HTT	NM_001388492.1(HTT):c.504C>T:p.Leu168=	coding	Benign
4	3103890	C	G	C3103890G	HTT	NM_001388492.1(HTT):c.528+7C>G	noncoding	Benign
4	3115441	C	G	C3115441G	HTT	NM_001388492.1(HTT):c.885C>G:p.Leu295=	coding	Benign
4	3116101	C	A	C3116101A	HTT	NM_001388492.1(HTT):c.906C>A:p.Val302=	coding	Benign
4	3121242	G	C	G3121242C	HTT	NM_001388492.1(HTT):c.1083G>C:p.Thr361=	coding	Benign
4	3121347	C	T	C3121347T	HTT	NM_001388492.1(HTT):c.1188C>T:p.Thr396=	coding	Benign
4	3122949	G	A	G3122949A	HTT	NM_001388492.1(HTT):c.1321+13G>A	noncoding	Benign
4	3122951	A	T	A3122951T	HTT	NM_001388492.1(HTT):c.1321+15A>T	noncoding	Benign
4	3125535	A	G	A3125535G	HTT	NM_001388492.1(HTT):c.1322-14A>G	noncoding	Benign
4	3127513	G	A	G3127513A	HTT	NM_001388492.1(HTT):c.1652G>A:p.Gly551Glu	coding	Benign
4	3127619	G	T	G3127619T	HTT	NM_001388492.1(HTT):c.1743+15G>T	noncoding	Benign
4	3130311	A	G	A3130311G	HTT	NM_001388492.1(HTT):c.1874A>G:p.Gln625Arg	coding	Benign
4	3130443	G	C	G3130443C	HTT	NM_001388492.1(HTT):c.1986+20G>C	noncoding	Benign
4	3132726	G	A	G3132726A	HTT	NM_001388492.1(HTT):c.2395+6G>A	noncoding	Benign
4	3134424	C	T	C3134424T	HTT	NM_001388492.1(HTT):c.2517C>T:p.Ser839=	coding	Benign
4	3135947	G	A	G3135947A	HTT	NM_001388492.1(HTT):c.2677G>A:p.Gly893Arg	coding	Benign
4	3146843	G	A	G3146843A	HTT	NM_001388492.1(HTT):c.3190G>A:p.Val1064Ile	coding	Benign
4	3146926	T	G	T3146926G	HTT	NM_001388492.1(HTT):c.3273T>G:p.Ile1091Met	coding	Benign
4	3154311	A	G	A3154311G	HTT	NM_001388492.1(HTT):c.3517A>G:p.Thr1173Ala	coding	Benign
4	3154328	A	G	A3154328G	HTT	NM_001388492.1(HTT):c.3534A>G:p.Leu1178=	coding	Benign
4	3160307	C	T	C3160307T	HTT	NM_001388492.1(HTT):c.3779C>T:p.Thr1260Met	coding	Benign
4	3160329	C	T	C3160329T	HTT	NM_001388492.1(HTT):c.3801C>T:p.Leu1267=	coding	Benign
4	3160350	T	C	T3160350C	HTT	NM_001388492.1(HTT):c.3822T>C:p.Leu1274=	coding	Benign
4	3173118	A	C	A3173118C	HTT	NM_001388492.1(HTT):c.4153A>C:p.Asn1385His	coding	Benign
4	3174819	G	A	G3174819A	HTT	NM_001388492.1(HTT):c.4245+20G>A	noncoding	Benign
4	3178294	T	C	T3178294C	HTT	NM_001388492.1(HTT):c.4464-4T>C	noncoding	Benign
4	3180540	C	G	C3180540G	HTT	NM_001388492.1(HTT):c.4638C>G:p.Val1546=	coding	Benign
4	3180654	A	G	A3180654G	HTT	NM_001388492.1(HTT):c.4749+3A>G	noncoding	Benign
4	3182338	G	C	G3182338C	HTT	NM_001388492.1(HTT):c.4750-16G>C	noncoding	Benign
4	3182481	G	A	G3182481A	HTT	NM_001388492.1(HTT):c.4866+11G>A	noncoding	Benign
4	3186591	C	A	C3186591A	HTT	NM_001388492.1(HTT):c.4867-6C>A	noncoding	Benign
4	3186730	C	T	C3186730T	HTT	NM_001388492.1(HTT):c.4989+11C>T	noncoding	Benign
4	3187820	C	A	C3187820A	HTT	NM_001388492.1(HTT):c.5159C>A:p.Thr1720Asn	coding	Benign
4	3188957	A	G	A3188957G	HTT	NM_001388492.1(HTT):c.5232A>G:p.Leu1744=	coding	Benign
4	3199863	C	T	C3199863T	HTT	NM_001388492.1(HTT):c.5500C>T:p.Leu1834=	coding	Benign
4	3206482	A	G	A3206482G	HTT	NM_001388492.1(HTT):c.5719-14A>G	noncoding	Benign
4	3206615	C	T	C3206615T	HTT	NM_001388492.1(HTT):c.5838C>T:p.Asn1946=	coding	Benign
4	3206845	G	A	G3206845A	HTT	NM_001388492.1(HTT):c.5937G>A:p.Gly1979=	coding	Benign
4	3206860	G	A	G3206860A	HTT	NM_001388492.1(HTT):c.5952G>A:p.Gln1984=	coding	Benign
4	3206993	A	C	A3206993C	HTT	NM_001388492.1(HTT):c.6075+10A>C	noncoding	Benign
4	3211988	T	C	T3211988C	HTT	NM_001388492.1(HTT):c.6474T>C:p.Gly2158=	coding	Benign
4	3212105	G	A	G3212105A	HTT	NM_001388492.1(HTT):c.6591G>A:p.Glu2197=	coding	Benign
4	3212138	G	A	G3212138A	HTT	NM_001388492.1(HTT):c.6624G>A:p.Leu2208=	coding	Benign
4	3212148	T	C	T3212148C	HTT	NM_001388492.1(HTT):c.6628+6T>C	noncoding	Benign
4	3212714	G	A	G3212714A	HTT	NM_001388492.1(HTT):c.6774+5G>A	noncoding	Benign
4	3213942	C	T	C3213942T	HTT	NM_001388492.1(HTT):c.6775-16C>T	noncoding	Benign
4	3213943	G	T	G3213943T	HTT	NM_001388492.1(HTT):c.6775-15G>T	noncoding	Benign
4	3214095	C	T	C3214095T	HTT	NM_001388492.1(HTT):c.6912C>T:p.Ala2304=	coding	Benign
4	3214108	T	C	T3214108C	HTT	NM_001388492.1(HTT):c.6925T>C:p.Tyr2309His	coding	Benign
4	3217886	A	C	A3217886C	HTT	NM_001388492.1(HTT):c.7176A>C:p.Leu2392=	coding	Benign
4	3220301	C	T	C3220301T	HTT	NM_001388492.1(HTT):c.7362C>T:p.Asn2454=	coding	Benign
4	3223432	C	T	C3223432T	HTT	NM_001388492.1(HTT):c.7497C>T:p.Asn2499=	coding	Benign
4	3224037	G	A	G3224037A	HTT	NM_001388492.1(HTT):c.7671G>A:p.Glu2557=	coding	Benign
4	3224046	A	G	A3224046G	HTT	NM_001388492.1(HTT):c.7680A>G:p.Ala2560=	coding	Benign
4	3224141	G	A	G3224141A	HTT	NM_001388492.1(HTT):c.7765+10G>A	noncoding	Benign
4	3225692	A	G	A3225692G	HTT	NM_001388492.1(HTT):c.7797A>G:p.Leu2599=	coding	Benign
4	3225737	C	T	C3225737T	HTT	NM_001388492.1(HTT):c.7842C>T:p.Leu2614=	coding	Benign
4	3228704	C	G	C3228704G	HTT	NM_001388492.1(HTT):c.7938C>G:p.Ala2646=	coding	Benign
4	3229925	G	A	G3229925A	HTT	NM_001388492.1(HTT):c.8148G>A:p.Gln2716=	coding	Benign
4	3229952	A	C	A3229952C	HTT	NM_001388492.1(HTT):c.8175A>C:p.Thr2725=	coding	Benign
4	3230030	C	T	C3230030T	HTT	NM_001388492.1(HTT):c.8253C>T:p.Ala2751=	coding	Benign
4	3233253	G	A	G3233253A	HTT	NM_001388492.1(HTT):c.8356G>A:p.Val2786Ile	coding	Benign
4	3235347	T	A	T3235347A	HTT	NM_001388492.1(HTT):c.8520T>A:p.Ile2840=	coding	Benign
4	3235649	C	T	C3235649T	HTT	NM_001388492.1(HTT):c.8656C>T:p.Leu2886=	coding	Benign
4	3236270	C	T	C3236270T	HTT	NM_001388492.1(HTT):c.8891+16C>T	noncoding	Benign
4	3238432	C	T	C3238432T	HTT	NM_001388492.1(HTT):c.8892-15C>T	noncoding	Benign
4	3238585	G	A	G3238585A	HTT	NM_001388492.1(HTT):c.9030G>A:p.Gln3010=	coding	Benign
4	3238799	A	G	A3238799G	HTT	NM_001388492.1(HTT):c.9055-19A>G	noncoding	Benign
4	3238940	C	T	C3238940T	HTT	NM_001388492.1(HTT):c.9177C>T:p.Phe3059=	coding	Benign
4	3463046	G	T	G3463046T	DOK7	Single_allele	noncoding	Benign
4	3473604	G	A	G3473604A	DOK7	NM_173660.5(DOK7):c.299G>A:p.Trp100Ter	coding	Pathogenic
4	3473630	G	A	G3473630A	DOK7	NM_173660.5(DOK7):c.325G>A:p.Gly109Ser	coding	Pathogenic
4	3476121	C	T	C3476121T	DOK7	NM_173660.5(DOK7):c.332-221C>T	noncoding	Benign
4	3476143	G	A	G3476143A	DOK7	NM_173660.5(DOK7):c.332-199G>A	noncoding	Benign
4	3476151	T	C	T3476151C	DOK7	NM_173660.5(DOK7):c.332-191T>C	noncoding	Benign
4	3476152	G	A	G3476152A	DOK7	NM_173660.5(DOK7):c.332-190G>A	noncoding	Benign
4	3476153	A	C	A3476153C	DOK7	NM_173660.5(DOK7):c.332-189A>C	noncoding	Benign
4	3476169	G	A	G3476169A	DOK7	NM_173660.5(DOK7):c.332-173G>A	noncoding	Benign
4	3476173	C	T	C3476173T	DOK7	NM_173660.5(DOK7):c.332-169C>T	noncoding	Benign
4	3476221	G	A	G3476221A	DOK7	NM_173660.5(DOK7):c.332-121G>A	noncoding	Benign
4	3476224	C	T	C3476224T	DOK7	NM_173660.5(DOK7):c.332-118C>T	noncoding	Benign
4	3476226	G	A	G3476226A	DOK7	NM_173660.5(DOK7):c.332-116G>A	noncoding	Benign
4	3476229	T	C	T3476229C	DOK7	NM_173660.5(DOK7):c.332-113T>C	noncoding	Benign
4	3476250	C	T	C3476250T	DOK7	NM_173660.5(DOK7):c.332-92C>T	noncoding	Benign
4	3476447	C	T	C3476447T	DOK7	NM_173660.5(DOK7):c.437C>T:p.Pro146Leu	coding	Pathogenic
4	3476717	A	G	A3476717G	DOK7	NM_173660.5(DOK7):c.532+175A>G	noncoding	Benign
4	3485469	T	C	T3485469C	DOK7	NM_173660.5(DOK7):c.533-70T>C	noncoding	Benign
4	3485552	C	T	C3485552T	DOK7	NM_173660.5(DOK7):c.546C>T:p.Phe182=	coding	Benign/Likely_benign
4	3485917	C	G	C3485917G	DOK7	NM_173660.5(DOK7):c.652+259C>G	noncoding	Benign
4	3489412	G	A	G3489412A	DOK7	NM_173660.5(DOK7):c.653-265G>A	noncoding	Benign
4	3489657	G	T	G3489657T	DOK7	NM_173660.5(DOK7):c.653-20G>T	noncoding	Benign
4	3489789	C	A	C3489789A	DOK7	NM_173660.5(DOK7):c.765C>A:p.Gly255=	coding	Benign
4	3492617	C	T	C3492617T	DOK7	NM_173660.5(DOK7):c.773-142C>T	noncoding	Benign
4	3492623	G	C	G3492623C	DOK7	NM_173660.5(DOK7):c.773-136G>C	noncoding	Benign
4	3492767	C	T	C3492767T	DOK7	NM_173660.5(DOK7):c.781C>T:p.Arg261Cys	coding	Benign
4	3493253	C	T	C3493253T	DOK7	NM_173660.5(DOK7):c.1267C>T:p.Gln423Ter	coding	Pathogenic
4	3493373	G	T	G3493373T	DOK7	NM_173660.5(DOK7):c.1387G>T:p.Glu463Ter	coding	Pathogenic
4	3493556	C	G	C3493556G	DOK7	NM_173660.5(DOK7):c.*55C>G	coding	Benign
4	3493719	C	T	C3493719T	DOK7	NM_173660.5(DOK7):c.*218C>T	coding	Benign
4	3493750	T	C	T3493750C	DOK7	NM_173660.5(DOK7):c.*249T>C	coding	Benign
4	3493766	G	A	G3493766A	DOK7	NM_173660.5(DOK7):c.*265G>A	coding	Benign
4	3496721	T	C	T3496721C	DOK7	NM_001301071.2(DOK7):c.1498-99T>C	noncoding	Benign
4	3496872	T	C	T3496872C	DOK7	NM_001301071.2(DOK7):c.1540+10T>C	noncoding	Benign
4	3496897	G	A	G3496897A	DOK7	NM_001301071.2(DOK7):c.1540+35G>A	noncoding	Benign
4	3497169	G	A	G3497169A	DOK7	NM_001301071.2(DOK7):c.1540+307G>A	noncoding	Benign
4	3500058	G	C	G3500058C	DOK7	NM_001301071.2(DOK7):c.1541-193G>C	noncoding	Benign
4	3500075	G	C	G3500075C	DOK7	NM_001301071.2(DOK7):c.1541-176G>C	noncoding	Benign
4	3500108	C	A	C3500108A	DOK7	NM_001301071.2(DOK7):c.1541-143C>A	noncoding	Benign
4	3500122	T	C	T3500122C	DOK7	NM_001301071.2(DOK7):c.1541-129T>C	noncoding	Benign
4	3500146	T	C	T3500146C	DOK7	NM_001301071.2(DOK7):c.1541-105T>C	noncoding	Benign
4	3500197	A	G	A3500197G	DOK7	NM_001301071.2(DOK7):c.1541-54A>G	noncoding	Benign
4	3500232	A	G	A3500232G	DOK7	NM_001301071.2(DOK7):c.1541-19A>G	noncoding	Benign
4	3500436	A	G	A3500436G	DOK7	NM_001301071.2(DOK7):c.1693+33A>G	noncoding	Benign
4	3500485	C	T	C3500485T	DOK7	NM_001301071.2(DOK7):c.1693+82C>T	noncoding	Benign
4	3500576	G	C	G3500576C	DOK7	NM_001301071.2(DOK7):c.1694-116G>C	noncoding	Benign
4	3500659	C	T	C3500659T	DOK7	NM_001301071.2(DOK7):c.1694-33C>T	noncoding	Benign
4	3500868	C	T	C3500868T	DOK7	NM_001301071.2(DOK7):c.*43C>T	noncoding	Benign
4	3500930	T	C	T3500930C	DOK7	NM_001301071.2(DOK7):c.*105T>C	noncoding	Benign
4	3501071	T	C	T3501071C	DOK7	NM_001301071.2(DOK7):c.*246T>C	noncoding	Benign
4	3501122	A	G	A3501122G	DOK7	NM_001301071.2(DOK7):c.*297A>G	noncoding	Benign
4	4859396	G	C	G4859396C	MSX1	Single_allele	noncoding	Benign
4	4859409	G	T	G4859409T	MSX1	Single_allele	noncoding	Benign
4	4859882	G	A	G4859882A	MSX1	NM_002448.3(MSX1):c.-18G>A	noncoding	Benign
4	4860179	C	T	C4860179T	MSX1	NM_002448.3(MSX1):c.280C>T:p.Gln94Ter	coding	Pathogenic
4	4860196	G	C	G4860196C	MSX1	NM_002448.3(MSX1):c.297G>C:p.Pro99=	coding	Benign
4	4860247	C	T	C4860247T	MSX1	NM_002448.3(MSX1):c.348C>T:p.Gly116=	coding	Benign
4	4860587	G	A	G4860587A	MSX1	NM_002448.3(MSX1):c.469+219G>A	noncoding	Benign
4	4860600	A	T	A4860600T	MSX1	NM_002448.3(MSX1):c.469+232A>T	noncoding	Benign
4	4862503	A	G	A4862503G	MSX1	NM_002448.3(MSX1):c.470-198A>G	noncoding	Benign
4	4862549	A	G	A4862549G	MSX1	NM_002448.3(MSX1):c.470-152A>G	noncoding	Benign
4	4862572	G	A	G4862572A	MSX1	NM_002448.3(MSX1):c.470-129G>A	noncoding	Benign
4	4862574	C	A	C4862574A	MSX1	NM_002448.3(MSX1):c.470-127C>A	noncoding	Benign
4	4862654	A	G	A4862654G	MSX1	NM_002448.3(MSX1):c.470-47A>G	noncoding	Benign
4	4863149	C	T	C4863149T	MSX1	NM_002448.3(MSX1):c.*6C>T	noncoding	Benign
4	5563024	C	A	C5563024A	EVC2	NM_147127.5(EVC2):c.3751G>T:p.Glu1251Ter	coding	Pathogenic
4	5563226	G	T	G5563226T	EVC2	NM_147127.5(EVC2):c.3660-111C>A	noncoding	Benign
4	5565262	G	A	G5565262A	EVC2	NM_147127.5(EVC2):c.3655C>T:p.Gln1219Ter	coding	Pathogenic
4	5568377	T	C	T5568377C	EVC2	NM_147127.5(EVC2):c.3557+67A>G	noncoding	Benign
4	5568812	G	A	G5568812A	EVC2	NM_147127.5(EVC2):c.3361-172C>T	noncoding	Benign
4	5574543	G	C	G5574543C	EVC2	NM_147127.5(EVC2):c.3360+142C>G	noncoding	Benign
4	5576157	T	C	T5576157C	EVC2	NM_147127.5(EVC2):c.3272+83A>G	noncoding	Benign
4	5576421	G	A	G5576421A	EVC2	NM_147127.5(EVC2):c.3091C>T:p.Gln1031Ter	coding	Pathogenic
4	5576631	G	A	G5576631A	EVC2	NM_147127.5(EVC2):c.3058-177C>T	noncoding	Benign
4	5584657	G	T	G5584657T	EVC2	NM_147127.5(EVC2):c.3023C>A:p.Ser1008Ter	coding	Pathogenic
4	5584783	G	T	G5584783T	EVC2	NM_147127.5(EVC2):c.2897C>A:p.Ser966Ter	coding	Pathogenic
4	5585048	G	A	G5585048A	EVC2	NM_147127.5(EVC2):c.2830-198C>T	noncoding	Benign
4	5615249	C	T	C5615249T	EVC2	NM_147127.5(EVC2):c.2829+173G>A	noncoding	Benign
4	5615522	G	C	G5615522C	EVC2	NM_147127.5(EVC2):c.2729C>G:p.Ser910Ter	coding	Pathogenic
4	5615557	T	A	T5615557A	EVC2	NM_147127.5(EVC2):c.2707-13A>T	noncoding	Benign/Likely_benign
4	5615642	G	T	G5615642T	EVC2	NM_147127.5(EVC2):c.2707-98C>A	noncoding	Benign
4	5618212	C	T	C5618212T	EVC2	NM_147127.5(EVC2):c.2706+266G>A	noncoding	Benign
4	5618213	A	G	A5618213G	EVC2	NM_147127.5(EVC2):c.2706+265T>C	noncoding	Benign
4	5618788	C	T	C5618788T	EVC2	NM_147127.5(EVC2):c.2502-106G>A	noncoding	Benign
4	5618886	G	A	G5618886A	EVC2	NM_147127.5(EVC2):c.2502-204C>T	noncoding	Benign
4	5622261	T	C	T5622261C	EVC2	NM_147127.5(EVC2):c.2501+276A>G	noncoding	Benign
4	5622389	T	C	T5622389C	EVC2	NM_147127.5(EVC2):c.2501+148A>G	noncoding	Benign
4	5622555	C	T	C5622555T	EVC2	NM_147127.5(EVC2):c.2483G>A:p.Trp828Ter	coding	Pathogenic
4	5622850	G	A	G5622850A	EVC2	NM_147127.5(EVC2):c.2188C>T:p.Gln730Ter	coding	Pathogenic
4	5623072	A	G	A5623072G	EVC2	NM_147127.5(EVC2):c.2047-81T>C	noncoding	Benign
4	5625828	A	T	A5625828T	EVC2	NM_147127.5(EVC2):c.1967T>A:p.Leu656Ter	coding	Pathogenic
4	5625899	G	T	G5625899T	EVC2	NM_147127.5(EVC2):c.1896C>A:p.Tyr632Ter	coding	Pathogenic
4	5628753	A	C	A5628753C	EVC2	NM_147127.5(EVC2):c.1711-19T>G	noncoding	Benign
4	5631557	C	G	C5631557G	EVC2	NM_147127.5(EVC2):c.1710+236G>C	noncoding	Benign
4	5631689	T	G	T5631689G	EVC2	NM_147127.5(EVC2):c.1710+104A>C	noncoding	Benign
4	5631974	A	T	A5631974T	EVC2	NM_147127.5(EVC2):c.1529T>A:p.Leu510Ter	coding	Pathogenic
4	5640434	A	G	A5640434G	EVC2	NM_147127.5(EVC2):c.1470+80T>C	noncoding	Benign
4	5640574	G	C	G5640574C	EVC2	NM_147127.5(EVC2):c.1410C>G:p.Tyr470Ter	coding	Pathogenic
4	5640654	G	A	G5640654A	EVC2	NM_147127.5(EVC2):c.1330C>T:p.Gln444Ter	coding	Pathogenic
4	5640681	G	A	G5640681A	EVC2	NM_147127.5(EVC2):c.1303C>T:p.Gln435Ter	coding	Pathogenic
4	5640697	A	G	A5640697G	EVC2	NM_147127.5(EVC2):c.1287T>C:p.Ser429=	coding	Benign
4	5662912	A	T	A5662912T	EVC2	NM_147127.5(EVC2):c.1145+195T>A	noncoding	Benign
4	5681298	T	A	T5681298A	EVC2	NM_147127.5(EVC2):c.832A>T:p.Lys278Ter	coding	Pathogenic
4	5681310	T	A	T5681310A	EVC2	NM_147127.5(EVC2):c.820A>T:p.Arg274Ter	coding	Pathogenic
4	5681356	G	C	G5681356C	EVC2	NM_147127.5(EVC2):c.817-43C>G	noncoding	Benign
4	5685384	G	A	G5685384A	EVC2	NM_147127.5(EVC2):c.802C>T:p.Gln268Ter	coding	Pathogenic
4	5685536	A	G	A5685536G	EVC2	NM_147127.5(EVC2):c.707-57T>C	noncoding	Benign
4	5685554	C	T	C5685554T	EVC2	NM_147127.5(EVC2):c.707-75G>A	noncoding	Benign
4	5689208	C	A	C5689208A	EVC2	NM_147127.5(EVC2):c.655G>T:p.Gly219Ter	coding	Pathogenic
4	5694304	T	C	T5694304C	EVC2	NM_147127.5(EVC2):c.450+31A>G	noncoding	Benign
4	5694537	G	A	G5694537A	EVC2	NM_147127.5(EVC2):c.284-36C>T	noncoding	Benign
4	5694599	C	A	C5694599A	EVC2	NM_147127.5(EVC2):c.284-98G>T	noncoding	Benign
4	5697464	T	C	T5697464C	EVC2	NM_147127.5(EVC2):c.283+129A>G	noncoding	Benign
4	5697612	G	T	G5697612T	EVC2	NM_147127.5(EVC2):c.264C>A:p.Cys88Ter	coding	Pathogenic/Likely_pathogenic
4	5697623	T	A	T5697623A	EVC2	NM_147127.5(EVC2):c.253A>T:p.Lys85Ter	coding	Pathogenic
4	5708381	G	A	G5708381A	EVC2	NM_147127.5(EVC2):c.133C>T:p.Gln45Ter	coding	Pathogenic/Likely_pathogenic
4	5708397	C	T	C5708397T	EVC2	NM_147127.5(EVC2):c.117G>A:p.Trp39Ter	coding	Pathogenic
4	5708398	C	T	C5708398T	EVC2	NM_147127.5(EVC2):c.116G>A:p.Trp39Ter	coding	Pathogenic
4	5708410	G	C	G5708410C	EVC2	NM_147127.5(EVC2):c.104C>G:p.Ser35Ter	coding	Pathogenic
4	5708662	G	A	G5708662A	EVC2	NM_001166136.2(EVC2):c.-13+167C>T	noncoding	Benign
4	5708742	T	C	T5708742C	EVC2	NM_001166136.2(EVC2):c.-13+87A>G	noncoding	Benign
4	5708920	A	G	A5708920G	EVC2	NM_147127.2(EVC2):c.-104T>C	noncoding	Benign
4	5709607	G	A	G5709607A	EVC2	Single_allele	noncoding	Benign
4	5709641	G	A	G5709641A	EVC2	Single_allele	noncoding	Benign
4	5711405	A	T	A5711405T	EVC	NM_153717.3(EVC):c.25A>T:p.Lys9Ter	coding	Pathogenic
4	5711555	G	T	G5711555T	EVC	NM_153717.3(EVC):c.174+1G>T	coding	Pathogenic
4	5711857	C	T	C5711857T	EVC	NM_153717.3(EVC):c.174+303C>T	noncoding	Benign
4	5719012	G	T	G5719012T	EVC	NM_153717.3(EVC):c.175-236G>T	noncoding	Benign
4	5719357	A	G	A5719357G	EVC	NM_153717.3(EVC):c.284A>G:p.Asp95Gly	coding	Benign/Likely_benign
4	5719359	A	T	A5719359T	EVC	NM_153717.3(EVC):c.286A>T:p.Lys96Ter	coding	Pathogenic
4	5729136	C	T	C5729136T	EVC	NM_153717.3(EVC):c.301-171C>T	noncoding	Benign
4	5731251	G	A	G5731251A	EVC	NM_153717.3(EVC):c.385-174G>A	noncoding	Benign
4	5731341	G	T	G5731341T	EVC	NM_153717.3(EVC):c.385-84G>T	noncoding	Benign
4	5731579	C	A	C5731579A	EVC	NM_153717.3(EVC):c.539C>A:p.Ser180Ter	coding	Pathogenic
4	5731790	G	C	G5731790C	EVC	NM_153717.3(EVC):c.617+133G>C	noncoding	Benign
4	5731811	A	G	A5731811G	EVC	NM_153717.3(EVC):c.617+154A>G	noncoding	Benign
4	5733155	C	G	C5733155G	EVC	NM_153717.3(EVC):c.618-196C>G	noncoding	Benign
4	5733230	G	A	G5733230A	EVC	NM_153717.3(EVC):c.618-121G>A	noncoding	Benign
4	5733462	C	G	C5733462G	EVC	NM_153717.3(EVC):c.702+27C>G	noncoding	Benign
4	5733576	C	T	C5733576T	EVC	NM_153717.3(EVC):c.702+141C>T	noncoding	Benign
4	5733589	G	C	G5733589C	EVC	NM_153717.3(EVC):c.702+154G>C	noncoding	Benign
4	5741734	A	T	A5741734T	EVC	NM_153717.3(EVC):c.721A>T:p.Lys241Ter	coding	Pathogenic
4	5741784	A	G	A5741784G	EVC	NM_153717.3(EVC):c.771A>G:p.Leu257=	coding	Benign
4	5741801	C	G	C5741801G	EVC	NM_153717.3(EVC):c.788C>G:p.Ser263Ter	coding	Pathogenic
4	5742054	C	T	C5742054T	EVC	NM_153717.3(EVC):c.801+240C>T	noncoding	Benign
4	5744891	A	G	A5744891G	EVC	NM_153717.3(EVC):c.802-313A>G	noncoding	Benign
4	5745404	C	A	C5745404A	EVC	NM_153717.3(EVC):c.939+63C>A	noncoding	Benign
4	5745425	A	G	A5745425G	EVC	NM_153717.3(EVC):c.939+84A>G	noncoding	Benign
4	5745455	G	A	G5745455A	EVC	NM_153717.3(EVC):c.939+114G>A	noncoding	Benign
4	5747882	C	T	C5747882T	EVC	NM_153717.3(EVC):c.940-266C>T	noncoding	Benign
4	5747889	T	G	T5747889G	EVC	NM_153717.3(EVC):c.940-259T>G	noncoding	Benign
4	5748057	G	A	G5748057A	EVC	NM_153717.3(EVC):c.940-91G>A	noncoding	Benign
4	5748077	G	A	G5748077A	EVC	NM_153717.3(EVC):c.940-71G>A	noncoding	Benign
4	5748080	C	T	C5748080T	EVC	NM_153717.3(EVC):c.940-68C>T	noncoding	Benign
4	5748087	C	T	C5748087T	EVC	NM_153717.3(EVC):c.940-61C>T	noncoding	Benign
4	5748136	C	G	C5748136G	EVC	NM_153717.3(EVC):c.940-12C>G	noncoding	Benign
4	5748229	C	T	C5748229T	EVC	NM_153717.3(EVC):c.1021C>T:p.Gln341Ter	coding	Pathogenic
4	5748268	G	T	G5748268T	EVC	NM_153717.3(EVC):c.1060G>T:p.Glu354Ter	coding	Pathogenic/Likely_pathogenic
4	5748357	A	T	A5748357T	EVC	NM_153717.3(EVC):c.1098+51A>T	noncoding	Benign
4	5748500	C	T	C5748500T	EVC	NM_153717.3(EVC):c.1098+194C>T	noncoding	Benign
4	5748536	C	G	C5748536G	EVC	NM_153717.3(EVC):c.1098+230C>G	noncoding	Benign
4	5748537	C	T	C5748537T	EVC	NM_153717.3(EVC):c.1098+231C>T	noncoding	Benign
4	5748538	A	G	A5748538G	EVC	NM_153717.3(EVC):c.1098+232A>G	noncoding	Benign
4	5748583	C	T	C5748583T	EVC	NM_153717.3(EVC):c.1098+277C>T	noncoding	Benign
4	5748603	C	T	C5748603T	EVC	NM_153717.3(EVC):c.1098+297C>T	noncoding	Benign
4	5752692	G	T	G5752692T	EVC	NM_153717.3(EVC):c.1099-144G>T	noncoding	Benign
4	5752905	C	T	C5752905T	EVC	NM_153717.3(EVC):c.1168C>T:p.Gln390Ter	coding	Pathogenic
4	5752965	G	T	G5752965T	EVC	NM_153717.3(EVC):c.1228G>T:p.Glu410Ter	coding	Pathogenic
4	5753793	C	T	C5753793T	EVC	NM_153717.3(EVC):c.1324C>T:p.Gln442Ter	coding	Pathogenic
4	5753796	C	T	C5753796T	EVC	NM_153717.3(EVC):c.1327C>T:p.Arg443Ter	coding	Pathogenic
4	5756300	C	T	C5756300T	EVC	NM_153717.3(EVC):c.1501C>T:p.Gln501Ter	coding	Pathogenic
4	5758133	A	G	A5758133G	EVC	NM_153717.3(EVC):c.1563+1771A>G	coding	Benign
4	5758259	C	T	C5758259T	EVC	NM_153717.3(EVC):c.1563+1897C>T	coding	Benign
4	5783675	G	T	G5783675T	EVC	NM_153717.3(EVC):c.1687G>T:p.Glu563Ter	coding	Pathogenic
4	5796932	C	T	C5796932T	EVC	NM_153717.3(EVC):c.1887-90C>T	noncoding	Benign
4	5797213	G	A	G5797213A	EVC	NM_153717.3(EVC):c.2078G>A:p.Trp693Ter	coding	Pathogenic/Likely_pathogenic
4	5797350	G	A	G5797350A	EVC	NM_153717.3(EVC):c.2097+118G>A	noncoding	Benign
4	5802176	A	G	A5802176G	EVC	NM_153717.3(EVC):c.2449+82A>G	noncoding	Benign
4	5802177	C	T	C5802177T	EVC	NM_153717.3(EVC):c.2449+83C>T	noncoding	Benign
4	5804523	C	T	C5804523T	EVC	NM_153717.3(EVC):c.2450-207C>T	noncoding	Benign
4	5804639	T	C	T5804639C	EVC	NM_153717.3(EVC):c.2450-91T>C	noncoding	Benign
4	5804768	G	T	G5804768T	EVC	NM_153717.3(EVC):c.2488G>T:p.Glu830Ter	coding	Pathogenic
4	5804825	C	T	C5804825T	EVC	NM_153717.3(EVC):c.2545C>T:p.Gln849Ter	coding	Pathogenic
4	5804842	G	A	G5804842A	EVC	NM_153717.3(EVC):c.2561+1G>A	coding	Pathogenic/Likely_pathogenic
4	5808657	C	T	C5808657T	EVC	NM_153717.3(EVC):c.2688+330C>T	noncoding	Benign
4	5809527	C	T	C5809527T	EVC	NM_153717.3(EVC):c.2698C>T:p.Gln900Ter	coding	Pathogenic
4	5809597	A	C	A5809597C	EVC	NM_153717.3(EVC):c.2768A>C:p.Lys923Thr	coding	Benign
4	5809875	A	G	A5809875G	EVC	NM_153717.3(EVC):c.2782+264A>G	noncoding	Benign
4	5810070	A	G	A5810070G	EVC	NM_153717.3(EVC):c.2783-269A>G	noncoding	Benign
4	6085644	G	A	G6085644A	JAKMIP1	NM_001099433.2(JAKMIP1):c.625-15C>T	noncoding	Benign
4	6270028	C	A	C6270028A	WFS1	NM_006005.3(WFS1):c.-6+14C>A	noncoding	Benign
4	6270099	T	C	T6270099C	WFS1	NM_006005.3(WFS1):c.-6+85T>C	noncoding	Benign
4	6270243	G	C	G6270243C	WFS1	NM_006005.3(WFS1):c.-6+229G>C	noncoding	Benign
4	6277196	G	C	G6277196C	WFS1	NM_006005.3(WFS1):c.-5-255G>C	noncoding	Benign
4	6277246	G	C	G6277246C	WFS1	NM_006005.3(WFS1):c.-5-205G>C	noncoding	Benign
4	6277320	C	T	C6277320T	WFS1	NM_006005.3(WFS1):c.-5-131C>T	noncoding	Benign
4	6277531	C	T	C6277531T	WFS1	NM_006005.3(WFS1):c.76C>T:p.Arg26Ter	coding	Pathogenic
4	6277912	C	A	C6277912A	WFS1	NM_006005.3(WFS1):c.232+225C>A	noncoding	Benign
4	6288762	G	A	G6288762A	WFS1	NM_006005.3(WFS1):c.316-225G>A	noncoding	Benign
4	6288867	T	C	T6288867C	WFS1	NM_006005.3(WFS1):c.316-120T>C	noncoding	Benign
4	6289058	G	A	G6289058A	WFS1	NM_006005.3(WFS1):c.387G>A:p.Trp129Ter	coding	Pathogenic
4	6289276	C	G	C6289276G	WFS1	NM_006005.3(WFS1):c.460+145C>G	noncoding	Benign
4	6291072	A	C	A6291072C	WFS1	NM_006005.3(WFS1):c.461-125A>C	noncoding	Benign
4	6291091	C	G	C6291091G	WFS1	NM_006005.3(WFS1):c.461-106C>G	noncoding	Benign
4	6291241	G	A	G6291241A	WFS1	NM_006005.3(WFS1):c.505G>A:p.Glu169Lys	coding	Pathogenic/Likely_pathogenic
4	6291330	G	A	G6291330A	WFS1	NM_006005.3(WFS1):c.594G>A:p.Ala198=	coding	Benign/Likely_benign
4	6291341	A	G	A6291341G	WFS1	NM_006005.3(WFS1):c.605A>G:p.Glu202Gly	coding	Pathogenic/Likely_pathogenic
4	6291367	G	A	G6291367A	WFS1	NM_006005.3(WFS1):c.631G>A:p.Asp211Asn	coding	Pathogenic/Likely_pathogenic
4	6291369	T	G	T6291369G	WFS1	NM_006005.3(WFS1):c.631+2T>G	noncoding	Pathogenic/Likely_pathogenic
4	6291510	C	G	C6291510G	WFS1	NM_006005.3(WFS1):c.631+143C>G	noncoding	Benign
4	6291823	G	A	G6291823A	WFS1	NM_006005.3(WFS1):c.632-94G>A	noncoding	Benign
4	6292075	T	C	T6292075C	WFS1	NM_006005.3(WFS1):c.712+78T>C	noncoding	Benign
4	6292111	A	G	A6292111G	WFS1	NM_006005.3(WFS1):c.712+114A>G	noncoding	Benign
4	6292128	C	T	C6292128T	WFS1	NM_006005.3(WFS1):c.712+131C>T	noncoding	Benign
4	6292179	G	A	G6292179A	WFS1	NM_006005.3(WFS1):c.712+182G>A	noncoding	Benign
4	6295159	G	A	G6295159A	WFS1	NM_006005.3(WFS1):c.831G>A:p.Lys277=	coding	Benign/Likely_benign
4	6295204	C	A	C6295204A	WFS1	NM_006005.3(WFS1):c.861+15C>A	noncoding	Benign
4	6295290	G	A	G6295290A	WFS1	NM_006005.3(WFS1):c.861+101G>A	noncoding	Benign
4	6295393	G	A	G6295393A	WFS1	NM_006005.3(WFS1):c.861+204G>A	noncoding	Benign
4	6300325	A	T	A6300325T	WFS1	NM_006005.3(WFS1):c.862-332A>T	noncoding	Benign
4	6300539	G	A	G6300539A	WFS1	NM_006005.3(WFS1):c.862-118G>A	noncoding	Benign
4	6300656	G	A	G6300656A	WFS1	NM_006005.3(WFS1):c.862-1G>A	noncoding	Pathogenic
4	6300735	T	C	T6300735C	WFS1	NM_006005.3(WFS1):c.940T>C:p.Trp314Arg	coding	Pathogenic
4	6300773	G	A	G6300773A	WFS1	NM_006005.3(WFS1):c.978G>A:p.Ala326=	coding	Benign
4	6300877	C	T	C6300877T	WFS1	NM_006005.3(WFS1):c.1082C>T:p.Thr361Ile	coding	Pathogenic/Likely_pathogenic
4	6300891	C	T	C6300891T	WFS1	NM_006005.3(WFS1):c.1096C>T:p.Gln366Ter	coding	Pathogenic
4	6300907	G	A	G6300907A	WFS1	NM_006005.3(WFS1):c.1112G>A:p.Trp371Ter	coding	Pathogenic
4	6300938	G	A	G6300938A	WFS1	NM_006005.3(WFS1):c.1143G>A:p.Leu381=	coding	Benign/Likely_benign
4	6300943	G	A	G6300943A	WFS1	NM_006005.3(WFS1):c.1148G>A:p.Arg383His	coding	Benign
4	6300975	G	T	G6300975T	WFS1	NM_006005.3(WFS1):c.1180G>T:p.Glu394Ter	coding	Pathogenic
4	6301104	G	A	G6301104A	WFS1	NM_006005.3(WFS1):c.1309G>A:p.Gly437Ser	coding	Benign/Likely_benign
4	6301116	G	A	G6301116A	WFS1	NM_006005.3(WFS1):c.1321G>A:p.Val441Met	coding	Benign/Likely_benign
4	6301353	C	T	C6301353T	WFS1	NM_006005.3(WFS1):c.1558C>T:p.Gln520Ter	coding	Pathogenic
4	6301414	G	A	G6301414A	WFS1	NM_006005.3(WFS1):c.1619G>A:p.Trp540Ter	coding	Pathogenic
4	6301574	G	C	G6301574C	WFS1	NM_006005.3(WFS1):c.1779G>C:p.Glu593Asp	coding	Benign/Likely_benign
4	6301615	C	G	C6301615G	WFS1	NM_006005.3(WFS1):c.1820C>G:p.Pro607Arg	coding	Pathogenic
4	6301680	C	T	C6301680T	WFS1	NM_006005.3(WFS1):c.1885C>T:p.Arg629Trp	coding	Pathogenic
4	6301738	G	A	G6301738A	WFS1	NM_006005.3(WFS1):c.1943G>A:p.Trp648Ter	coding	Pathogenic
4	6301751	C	G	C6301751G	WFS1	NM_006005.3(WFS1):c.1956C>G:p.Tyr652Ter	coding	Pathogenic
4	6301756	C	G	C6301756G	WFS1	NM_006005.3(WFS1):c.1961C>G:p.Ser654Ter	coding	Pathogenic
4	6301797	C	T	C6301797T	WFS1	NM_006005.3(WFS1):c.2002C>T:p.Gln668Ter	coding	Pathogenic
4	6301800	T	C	T6301800C	WFS1	NM_006005.3(WFS1):c.2005T>C:p.Tyr669His	coding	Pathogenic
4	6301810	T	C	T6301810C	WFS1	NM_006005.3(WFS1):c.2015T>C:p.Leu672Pro	coding	Pathogenic
4	6301845	G	A	G6301845A	WFS1	NM_006005.3(WFS1):c.2050G>A:p.Ala684Thr	coding	Pathogenic
4	6301894	G	A	G6301894A	WFS1	NM_006005.3(WFS1):c.2099G>A:p.Trp700Ter	coding	Pathogenic
4	6301899	G	A	G6301899A	WFS1	NM_006005.3(WFS1):c.2104G>A:p.Gly702Ser	coding	Pathogenic
4	6301902	C	T	C6301902T	WFS1	NM_006005.3(WFS1):c.2107C>T:p.Arg703Cys	coding	Pathogenic
4	6301910	G	C	G6301910C	WFS1	NM_006005.3(WFS1):c.2115G>C:p.Lys705Asn	coding	Pathogenic
4	6301919	C	T	C6301919T	WFS1	NM_006005.3(WFS1):c.2124C>T:p.Arg708=	coding	Benign/Likely_benign
4	6301984	G	A	G6301984A	WFS1	NM_006005.3(WFS1):c.2189G>A:p.Trp730Ter	coding	Pathogenic/Likely_pathogenic
4	6302000	C	G	C6302000G	WFS1	NM_006005.3(WFS1):c.2205C>G:p.Tyr735Ter	coding	Pathogenic
4	6302001	G	A	G6302001A	WFS1	NM_006005.3(WFS1):c.2206G>A:p.Gly736Ser	coding	Pathogenic/Likely_pathogenic
4	6302028	G	A	G6302028A	WFS1	NM_006005.3(WFS1):c.2233G>A:p.Gly745Ser	coding	Benign/Likely_benign
4	6302106	G	C	G6302106C	WFS1	NM_006005.3(WFS1):c.2311G>C:p.Asp771His	coding	Pathogenic
4	6302186	C	T	C6302186T	WFS1	NM_006005.3(WFS1):c.2391C>T:p.Asp797=	coding	Benign
4	6302211	G	C	G6302211C	WFS1	NM_006005.3(WFS1):c.2416G>C:p.Ala806Pro	coding	Pathogenic/Likely_pathogenic
4	6302272	G	A	G6302272A	WFS1	NM_006005.3(WFS1):c.2477G>A:p.Ser826Asn	coding	Pathogenic
4	6302449	C	T	C6302449T	WFS1	NM_006005.3(WFS1):c.2654C>T:p.Pro885Leu	coding	Pathogenic/Likely_pathogenic
4	6302458	C	A	C6302458A	WFS1	NM_006005.3(WFS1):c.2663C>A:p.Ser888Ter	coding	Pathogenic
4	6863794	C	T	C6863794T	KIAA0232	NM_014743.3(KIAA0232):c.3412C>T:p.Pro1138Ser	coding	Benign
4	8060962	T	C	T8060962C	ABLIM2	NM_001130083.2(ABLIM2):c.763+5A>G	noncoding	Benign
4	8060963	G	A	G8060963A	ABLIM2	NM_001130083.2(ABLIM2):c.763+4C>T	noncoding	Benign
4	8606907	C	T	C8606907T	CPZ	NM_001014447.3(CPZ):c.1068+9C>T	noncoding	Benign
4	8867531	A	G	A8867531G	HMX1	NM_018942.3(HMX1):c.*162T>C	coding	Benign
4	8867547	G	A	G8867547A	HMX1	NM_018942.3(HMX1):c.*146C>T	coding	Benign
4	8867639	C	T	C8867639T	HMX1	NM_018942.3(HMX1):c.*54G>A	coding	Benign
4	8867956	G	A	G8867956A	HMX1	NM_018942.3(HMX1):c.784C>T:p.Leu262=	coding	Benign
4	8868026	G	A	G8868026A	HMX1	NM_018942.3(HMX1):c.714C>T:p.Ala238=	coding	Benign
4	8868252	T	G	T8868252G	HMX1	NM_018942.3(HMX1):c.488A>C:p.Glu163Ala	coding	Benign
4	8868255	C	T	C8868255T	HMX1	NM_018942.3(HMX1):c.485G>A:p.Arg162Gln	coding	Benign
4	8868292	C	A	C8868292A	HMX1	NM_018942.3(HMX1):c.448G>T:p.Ala150Ser	coding	Benign
4	8868342	C	G	C8868342G	HMX1	NM_018942.3(HMX1):c.398G>C:p.Ser133Thr	coding	Benign
4	8871086	A	C	A8871086C	HMX1	NM_018942.3(HMX1):c.394+135T>G	noncoding	Benign
4	8871724	C	G	C8871724G	HMX1	NM_018942.3(HMX1):c.-110G>C	noncoding	Benign
4	8871744	A	C	A8871744C	HMX1	NM_018942.3(HMX1):c.-130T>G	noncoding	Benign
4	8871964	C	T	C8871964T	HMX1	Single_allele	noncoding	Benign
4	8872075	C	T	C8872075T	HMX1	Single_allele	noncoding	Benign
4	8872134	G	A	G8872134A	HMX1	Single_allele	noncoding	Benign
4	9781804	G	C	G9781804C	DRD5	NM_000798.5(DRD5):c.-226G>C	noncoding	Benign
4	9783510	T	C	T9783510C	DRD5	NM_000798.5(DRD5):c.*47T>C	noncoding	Benign
4	9783641	G	T	G9783641T	DRD5	NM_000798.5(DRD5):c.*178G>T	noncoding	Benign
4	9826860	T	C	T9826860C	SLC2A9	NM_020041.3(SLC2A9):c.1420-260A>G	noncoding	Benign
4	9826878	C	T	C9826878T	SLC2A9	NM_020041.3(SLC2A9):c.1420-278G>A	noncoding	Benign
4	9834566	G	A	G9834566A	SLC2A9	NM_020041.3(SLC2A9):c.1419+315C>T	noncoding	Benign
4	9834742	T	C	T9834742C	SLC2A9	NM_020041.3(SLC2A9):c.1419+139A>G	noncoding	Benign
4	9835237	T	A	T9835237A	SLC2A9	NM_020041.3(SLC2A9):c.1292-229A>T	noncoding	Benign
4	9887370	C	T	C9887370T	SLC2A9	NM_020041.3(SLC2A9):c.1291+197G>A	noncoding	Benign
4	9887418	T	C	T9887418C	SLC2A9	NM_020041.3(SLC2A9):c.1291+149A>G	noncoding	Benign
4	9887445	C	T	C9887445T	SLC2A9	NM_020041.3(SLC2A9):c.1291+122G>A	noncoding	Benign
4	9887824	G	A	G9887824A	SLC2A9	NM_020041.3(SLC2A9):c.1216-182C>T	noncoding	Benign
4	9887863	G	A	G9887863A	SLC2A9	NM_020041.3(SLC2A9):c.1216-221C>T	noncoding	Benign
4	9890437	C	A	C9890437A	SLC2A9	NM_020041.3(SLC2A9):c.1215+173G>T	noncoding	Benign
4	9890478	T	C	T9890478C	SLC2A9	NM_020041.3(SLC2A9):c.1215+132A>G	noncoding	Benign
4	9907935	T	G	T9907935G	SLC2A9	NM_020041.3(SLC2A9):c.1113+300A>C	noncoding	Benign
4	9908298	C	T	C9908298T	SLC2A9	NM_020041.3(SLC2A9):c.1050G>A:p.Pro350=	coding	Benign
4	9920307	T	C	T9920307C	SLC2A9	NM_020041.3(SLC2A9):c.1002+78A>G	noncoding	Benign
4	9942076	G	A	G9942076A	SLC2A9	NM_020041.3(SLC2A9):c.682-31C>T	noncoding	Benign
4	9980326	C	T	C9980326T	SLC2A9	NM_020041.3(SLC2A9):c.681+266G>A	noncoding	Benign
4	9980373	G	A	G9980373A	SLC2A9	NM_020041.3(SLC2A9):c.681+219C>T	noncoding	Benign
4	9980405	A	G	A9980405G	SLC2A9	NM_020041.3(SLC2A9):c.681+187T>C	noncoding	Benign
4	9980420	A	C	A9980420C	SLC2A9	NM_020041.3(SLC2A9):c.681+172T>G	noncoding	Benign
4	9980567	C	T	C9980567T	SLC2A9	NM_020041.3(SLC2A9):c.681+25G>A	noncoding	Benign
4	9980680	C	T	C9980680T	SLC2A9	NM_020041.3(SLC2A9):c.593G>A:p.Arg198His	coding	Pathogenic
4	9985602	T	C	T9985602C	SLC2A9	NM_020041.3(SLC2A9):c.535+67A>G	noncoding	Benign
4	9986043	T	G	T9986043G	SLC2A9	NM_020041.3(SLC2A9):c.411-250A>C	noncoding	Benign
4	9986098	G	A	G9986098A	SLC2A9	NM_020041.3(SLC2A9):c.411-305C>T	noncoding	Benign
4	9996520	C	T	C9996520T	SLC2A9	NM_020041.3(SLC2A9):c.410+261G>A	noncoding	Benign
4	9996752	C	A	C9996752A	SLC2A9	NM_020041.3(SLC2A9):c.410+29G>T	noncoding	Benign
4	9996981	T	C	T9996981C	SLC2A9	NM_020041.3(SLC2A9):c.250-40A>G	noncoding	Benign
4	10018856	C	T	C10018856T	SLC2A9	NM_020041.3(SLC2A9):c.249+119G>A	noncoding	Benign
4	10018940	G	A	G10018940A	SLC2A9	NM_020041.3(SLC2A9):c.249+35C>T	noncoding	Benign
4	10019133	A	G	A10019133G	SLC2A9	NM_020041.3(SLC2A9):c.151-60T>C	noncoding	Benign
4	10021215	G	A	G10021215A	SLC2A9	NM_020041.3(SLC2A9):c.150+65C>T	noncoding	Benign
4	10021256	T	C	T10021256C	SLC2A9	NM_020041.3(SLC2A9):c.150+24A>G	noncoding	Benign
4	10021604	A	G	A10021604G	SLC2A9	NM_001001290.2(SLC2A9):c.64-2531T>C	noncoding	Benign
4	10021824	C	T	C10021824T	SLC2A9	NM_001001290.2(SLC2A9):c.64-2751G>A	noncoding	Benign
4	10025730	C	G	C10025730G	SLC2A9	NM_001001290.2(SLC2A9):c.63+174G>C	noncoding	Benign
4	10025918	C	T	C10025918T	SLC2A9	NM_001001290.2(SLC2A9):c.49G>A:p.Ala17Thr	coding	Benign
4	10026019	A	G	A10026019G	SLC2A9	NM_001001290.2(SLC2A9):c.-40-13T>C	noncoding	Benign
4	10026120	G	A	G10026120A	SLC2A9	NM_001001290.2(SLC2A9):c.-40-114C>T	noncoding	Benign
4	10077460	T	A	T10077460A	WDR1	NM_017491.5(WDR1):c.1570-12A>T	noncoding	Benign
4	10077753	C	T	C10077753T	WDR1	NM_017491.5(WDR1):c.1569G>A:p.Ser523=	coding	Benign
4	10078948	G	A	G10078948A	WDR1	NM_017491.5(WDR1):c.1338C>T:p.Tyr446=	coding	Benign/Likely_benign
4	10081375	C	T	C10081375T	WDR1	NM_017491.5(WDR1):c.1266G>A:p.Val422=	coding	Benign
4	10083010	G	A	G10083010A	WDR1	NM_017491.5(WDR1):c.1196+12C>T	noncoding	Benign
4	10087881	C	T	C10087881T	WDR1	NM_017491.5(WDR1):c.777G>A:p.Lys259=	coding	Benign
4	10087911	C	T	C10087911T	WDR1	NM_017491.5(WDR1):c.747G>A:p.Leu249=	coding	Benign
4	10087915	T	C	T10087915C	WDR1	NM_017491.5(WDR1):c.743A>G:p.His248Arg	coding	Benign
4	10088283	T	A	T10088283A	WDR1	NM_017491.5(WDR1):c.717+10A>T	noncoding	Benign
4	10088650	A	G	A10088650G	WDR1	NM_017491.5(WDR1):c.636+14T>C	noncoding	Benign
4	10097716	T	C	T10097716C	WDR1	NM_017491.5(WDR1):c.553A>G:p.Ile185Val	coding	Benign
4	10097756	C	T	C10097756T	WDR1	NM_017491.5(WDR1):c.513G>A:p.Ala171=	coding	Benign
4	10097762	G	A	G10097762A	WDR1	NM_017491.5(WDR1):c.507C>T:p.Asn169=	coding	Benign
4	10098980	G	A	G10098980A	WDR1	NM_017491.5(WDR1):c.377+12C>T	noncoding	Benign
4	10099157	C	T	C10099157T	WDR1	NM_017491.5(WDR1):c.230-18G>A	noncoding	Benign
4	10116104	G	A	G10116104A	WDR1	NM_017491.5(WDR1):c.138+9C>T	noncoding	Benign
4	10445544	C	G	C10445544G	ZNF518B	NM_053042.3(ZNF518B):c.785G>C:p.Gly262Ala	coding	Benign
4	13368684	T	C	T13368684C	RAB28	NM_001017979.3(RAB28):c.574-34A>G	noncoding	Benign
4	13369754	C	T	C13369754T	RAB28	NM_001017979.3(RAB28):c.574-1104G>A	noncoding	Benign
4	13371959	C	T	C13371959T	RAB28	NM_001017979.3(RAB28):c.574-3309G>A	noncoding	Benign
4	13381613	A	G	A13381613G	RAB28	NM_001017979.3(RAB28):c.392-19T>C	noncoding	Benign
4	13460896	C	A	C13460896A	RAB28	NM_001017979.3(RAB28):c.262-68G>T	noncoding	Benign
4	13460897	G	C	G13460897C	RAB28	NM_001017979.3(RAB28):c.262-69C>G	noncoding	Benign
4	13479333	T	C	T13479333C	RAB28	NM_001017979.3(RAB28):c.172+97A>G	noncoding	Benign
4	13541817	A	G	A13541817G	NKX3-2	NM_001189.4(NKX3-2):c.*176T>C	noncoding	Benign
4	13543932	G	A	G13543932A	NKX3-2	NM_001189.4(NKX3-2):c.466+17C>T	noncoding	Benign
4	15470094	G	C	G15470094C	CC2D2A	NM_001378615.1(CC2D2A):c.-19+37G>C	noncoding	Benign
4	15473372	C	T	C15473372T	CC2D2A	NM_001378615.1(CC2D2A):c.-18-2543C>T	noncoding	Benign
4	15473476	A	G	A15473476G	CC2D2A	NM_001378615.1(CC2D2A):c.-18-2439A>G	noncoding	Benign
4	15478601	A	C	A15478601C	CC2D2A	NM_001378615.1(CC2D2A):c.40-122A>C	noncoding	Benign
4	15478804	C	T	C15478804T	CC2D2A	NM_001378615.1(CC2D2A):c.121C>T:p.Gln41Ter	coding	Pathogenic
4	15478858	G	A	G15478858A	CC2D2A	NM_001378615.1(CC2D2A):c.123+52G>A	noncoding	Benign
4	15479041	T	G	T15479041G	CC2D2A	NM_001378615.1(CC2D2A):c.123+235T>G	noncoding	Benign
4	15479485	G	A	G15479485A	CC2D2A	NM_001378615.1(CC2D2A):c.123+679G>A	noncoding	Benign
4	15480452	C	G	C15480452G	CC2D2A	NM_001378615.1(CC2D2A):c.124-252C>G	noncoding	Benign
4	15502427	A	T	A15502427T	CC2D2A	NM_001378615.1(CC2D2A):c.248-2A>T	noncoding	Pathogenic
4	15503196	G	A	G15503196A	CC2D2A	NM_001378615.1(CC2D2A):c.438+273G>A	noncoding	Benign
4	15510032	G	A	G15510032A	CC2D2A	NM_001378615.1(CC2D2A):c.439-107G>A	noncoding	Benign
4	15511418	G	T	G15511418T	CC2D2A	NM_001378615.1(CC2D2A):c.712G>T:p.Glu238Ter	coding	Pathogenic
4	15516313	C	T	C15516313T	CC2D2A	NM_001378615.1(CC2D2A):c.1017+309C>T	noncoding	Benign
4	15528725	C	T	C15528725T	CC2D2A	NM_001378615.1(CC2D2A):c.1465C>T:p.Arg489Ter	coding	Pathogenic/Likely_pathogenic
4	15533264	G	A	G15533264A	CC2D2A	NM_001378615.1(CC2D2A):c.1538G>A:p.Trp513Ter	coding	Pathogenic
4	15533472	A	G	A15533472G	CC2D2A	NM_001378615.1(CC2D2A):c.1607+139A>G	noncoding	Benign
4	15536761	A	C	A15536761C	CC2D2A	NM_001378615.1(CC2D2A):c.1608-159A>C	noncoding	Benign
4	15537299	G	T	G15537299T	CC2D2A	NM_001378615.1(CC2D2A):c.1764+223G>T	noncoding	Benign
4	15537579	T	C	T15537579C	CC2D2A	NM_001378615.1(CC2D2A):c.1765-320T>C	noncoding	Benign
4	15537830	A	G	A15537830G	CC2D2A	NM_001378615.1(CC2D2A):c.1765-69A>G	noncoding	Benign
4	15538015	G	A	G15538015A	CC2D2A	NM_001378615.1(CC2D2A):c.1881G>A:p.Arg627=	coding	Benign/Likely_benign
4	15550672	A	G	A15550672G	CC2D2A	NM_001378615.1(CC2D2A):c.2182-152A>G	noncoding	Benign
4	15550901	C	T	C15550901T	CC2D2A	NM_001378615.1(CC2D2A):c.2259C>T:p.Val753=	coding	Benign
4	15550981	G	C	G15550981C	CC2D2A	NM_001378615.1(CC2D2A):c.2338+1G>C	coding	Pathogenic
4	15555061	C	G	C15555061G	CC2D2A	NM_001378615.1(CC2D2A):c.2487-11C>G	noncoding	Benign/Likely_benign
4	15555212	T	C	T15555212C	CC2D2A	NM_001378615.1(CC2D2A):c.2625+2T>C	noncoding	Pathogenic
4	15557451	C	T	C15557451T	CC2D2A	NM_001378615.1(CC2D2A):c.2773C>T:p.Arg925Ter	coding	Pathogenic/Likely_pathogenic
4	15557481	C	T	C15557481T	CC2D2A	NM_001378615.1(CC2D2A):c.2803C>T:p.Arg935Ter	coding	Pathogenic
4	15559008	C	G	C15559008G	CC2D2A	NM_001378615.1(CC2D2A):c.2830-157C>G	noncoding	Benign
4	15559473	A	G	A15559473G	CC2D2A	NM_001378615.1(CC2D2A):c.2922+216A>G	noncoding	Benign
4	15560719	C	T	C15560719T	CC2D2A	NM_001378615.1(CC2D2A):c.3014+97C>T	noncoding	Benign
4	15560830	T	C	T15560830C	CC2D2A	NM_001378615.1(CC2D2A):c.3014+208T>C	noncoding	Benign
4	15560844	C	G	C15560844G	CC2D2A	NM_001378615.1(CC2D2A):c.3014+222C>G	noncoding	Benign
4	15563585	T	C	T15563585C	CC2D2A	NM_001378615.1(CC2D2A):c.3182+63T>C	noncoding	Benign
4	15567699	A	G	A15567699G	CC2D2A	NM_001378615.1(CC2D2A):c.3311A>G:p.Glu1104Gly	coding	Pathogenic
4	15567764	G	A	G15567764A	CC2D2A	NM_001378615.1(CC2D2A):c.3376G>A:p.Glu1126Lys	coding	Pathogenic
4	15570141	A	G	A15570141G	CC2D2A	NM_001378615.1(CC2D2A):c.3496-257A>G	noncoding	Benign
4	15574095	C	G	C15574095G	CC2D2A	NM_001378615.1(CC2D2A):c.3595-55C>G	noncoding	Benign
4	15574243	C	T	C15574243T	CC2D2A	NM_001378615.1(CC2D2A):c.3688C>T:p.Arg1230Ter	coding	Pathogenic
4	15574318	C	T	C15574318T	CC2D2A	NM_001378615.1(CC2D2A):c.3763C>T:p.Arg1255Ter	coding	Pathogenic
4	15580362	A	G	A15580362G	CC2D2A	NM_001378615.1(CC2D2A):c.3975+191A>G	noncoding	Benign
4	15586170	G	A	G15586170A	CC2D2A	NM_001378615.1(CC2D2A):c.3989G>A:p.Arg1330Gln	coding	Pathogenic
4	15587567	G	A	G15587567A	CC2D2A	NM_001378615.1(CC2D2A):c.4066-249G>A	noncoding	Benign
4	15587691	C	G	C15587691G	CC2D2A	NM_001378615.1(CC2D2A):c.4066-125C>G	noncoding	Benign
4	15589800	C	T	C15589800T	CC2D2A	NM_001378615.1(CC2D2A):c.4314+121C>T	noncoding	Benign
4	15596083	A	G	A15596083G	CC2D2A	NM_001378615.1(CC2D2A):c.4315-2A>G	noncoding	Pathogenic
4	15596103	C	T	C15596103T	CC2D2A	NM_001378615.1(CC2D2A):c.4333C>T:p.Arg1445Ter	coding	Pathogenic/Likely_pathogenic
4	15596361	C	T	C15596361T	CC2D2A	NM_001378615.1(CC2D2A):c.4437+154C>T	noncoding	Benign
4	15599563	T	C	T15599563C	CC2D2A	NM_001378615.1(CC2D2A):c.4531T>C:p.Trp1511Arg	coding	Pathogenic/Likely_pathogenic
4	15599582	C	G	C15599582G	CC2D2A	NM_001378615.1(CC2D2A):c.4550C>G:p.Thr1517Ser	coding	Pathogenic/Likely_pathogenic
4	15601632	C	G	C15601632G	CC2D2A	Single_allele	noncoding	Benign
4	15979352	G	A	G15979352A	PROM1	NM_006017.3(PROM1):c.2582+43C>T	noncoding	Benign
4	15980450	G	A	G15980450A	PROM1	NM_006017.3(PROM1):c.2461C>T:p.Arg821Ter	coding	Pathogenic
4	15980457	G	A	G15980457A	PROM1	NM_006017.3(PROM1):c.2454C>T:p.Tyr818=	coding	Benign
4	15980553	C	T	C15980553T	PROM1	NM_006017.3(PROM1):c.2374-16G>A	noncoding	Benign
4	15984179	A	C	A15984179C	PROM1	NM_006017.3(PROM1):c.2373+84T>G	noncoding	Benign
4	15984278	G	A	G15984278A	PROM1	NM_006017.3(PROM1):c.2358C>T:p.Tyr786=	coding	Benign
4	15984331	T	A	T15984331A	PROM1	NM_006017.3(PROM1):c.2305A>T:p.Lys769Ter	coding	Pathogenic
4	15984378	A	C	A15984378C	PROM1	NM_006017.3(PROM1):c.2281-23T>G	noncoding	Benign
4	15985711	A	G	A15985711G	PROM1	NM_006017.3(PROM1):c.2280+49T>C	noncoding	Benign
4	15985725	C	T	C15985725T	PROM1	NM_006017.3(PROM1):c.2280+35G>A	noncoding	Benign
4	15986054	C	G	C15986054G	PROM1	NM_006017.3(PROM1):c.2131-17G>C	noncoding	Benign
4	15989652	G	A	G15989652A	PROM1	NM_006017.3(PROM1):c.2076+80C>T	noncoding	Benign
4	15989785	G	A	G15989785A	PROM1	NM_006017.3(PROM1):c.2023C>T:p.Gln675Ter	coding	Pathogenic
4	15991160	A	C	A15991160C	PROM1	NM_006017.3(PROM1):c.1983+62T>G	noncoding	Benign
4	15991179	A	G	A15991179G	PROM1	NM_006017.3(PROM1):c.1983+43T>C	noncoding	Benign
4	15991259	G	T	G15991259T	PROM1	NM_006017.3(PROM1):c.1946C>A:p.Ser649Ter	coding	Pathogenic
4	15992257	G	C	G15992257C	PROM1	NM_006017.3(PROM1):c.1902C>G:p.Tyr634Ter	coding	Pathogenic
4	15993895	C	T	C15993895T	PROM1	NM_006017.3(PROM1):c.1767+92G>A	noncoding	Benign
4	15994044	G	T	G15994044T	PROM1	NM_006017.3(PROM1):c.1710C>A:p.Tyr570Ter	coding	Pathogenic
4	15998489	C	G	C15998489G	PROM1	NM_006017.3(PROM1):c.1579-1G>C	coding	Pathogenic
4	15998490	T	G	T15998490G	PROM1	NM_006017.3(PROM1):c.1579-2A>C	noncoding	Pathogenic/Likely_pathogenic
4	16000665	T	C	T16000665C	PROM1	NM_006017.3(PROM1):c.1455-46A>G	noncoding	Benign
4	16000694	C	T	C16000694T	PROM1	NM_006017.3(PROM1):c.1455-75G>A	noncoding	Benign
4	16006690	C	T	C16006690T	PROM1	NM_006017.3(PROM1):c.1302G>A:p.Trp434Ter	coding	Pathogenic
4	16008949	C	T	C16008949T	PROM1	NM_006017.3(PROM1):c.1301G>A:p.Trp434Ter	coding	Pathogenic
4	16009125	C	A	C16009125A	PROM1	NM_006017.3(PROM1):c.1142-17G>T	noncoding	Benign
4	16016275	T	G	T16016275G	PROM1	NM_006017.3(PROM1):c.1003-35A>C	noncoding	Benign
4	16016337	A	G	A16016337G	PROM1	NM_006017.3(PROM1):c.1003-97T>C	noncoding	Benign
4	16024214	C	T	C16024214T	PROM1	NM_006017.3(PROM1):c.694+81G>A	noncoding	Benign
4	16024230	A	G	A16024230G	PROM1	NM_006017.3(PROM1):c.694+65T>C	noncoding	Benign
4	16024358	G	A	G16024358A	PROM1	NM_006017.3(PROM1):c.631C>T:p.Gln211Ter	coding	Pathogenic
4	16025360	T	C	T16025360C	PROM1	NM_006017.3(PROM1):c.510-48A>G	noncoding	Benign
4	16033371	T	A	T16033371A	PROM1	NM_006017.3(PROM1):c.442A>T:p.Lys148Ter	coding	Pathogenic
4	16166331	C	T	C16166331T	TAPT1	NM_153365.3(TAPT1):c.1474+302G>A	noncoding	Benign
4	16166338	C	T	C16166338T	TAPT1	NM_153365.3(TAPT1):c.1474+295G>A	noncoding	Benign
4	16166621	G	C	G16166621C	TAPT1	NM_153365.3(TAPT1):c.1474+12C>G	noncoding	Benign
4	16166623	C	T	C16166623T	TAPT1	NM_153365.3(TAPT1):c.1474+10G>A	noncoding	Benign/Likely_benign
4	16166866	T	C	T16166866C	TAPT1	NM_153365.3(TAPT1):c.1314-73A>G	noncoding	Benign
4	16166889	C	A	C16166889A	TAPT1	NM_153365.3(TAPT1):c.1314-96G>T	noncoding	Benign
4	16166949	G	T	G16166949T	TAPT1	NM_153365.3(TAPT1):c.1314-156C>A	noncoding	Benign
4	16166958	T	C	T16166958C	TAPT1	NM_153365.3(TAPT1):c.1314-165A>G	noncoding	Benign
4	16170401	A	T	A16170401T	TAPT1	NM_153365.3(TAPT1):c.1313+252T>A	noncoding	Benign
4	16170548	C	T	C16170548T	TAPT1	NM_153365.3(TAPT1):c.1313+105G>A	noncoding	Benign
4	16170558	C	T	C16170558T	TAPT1	NM_153365.3(TAPT1):c.1313+95G>A	noncoding	Benign
4	16173998	C	T	C16173998T	TAPT1	NM_153365.3(TAPT1):c.1236+206G>A	noncoding	Benign
4	16174287	A	G	A16174287G	TAPT1	NM_153365.3(TAPT1):c.1168-15T>C	noncoding	Benign
4	16174291	A	G	A16174291G	TAPT1	NM_153365.3(TAPT1):c.1168-19T>C	noncoding	Benign
4	16174681	G	A	G16174681A	TAPT1	NM_153365.3(TAPT1):c.1156C>T:p.Arg386Ter	coding	Pathogenic
4	16175012	A	G	A16175012G	TAPT1	NM_153365.3(TAPT1):c.1108-283T>C	noncoding	Benign
4	16175861	G	A	G16175861A	TAPT1	NM_153365.3(TAPT1):c.1107+258C>T	noncoding	Benign
4	16175894	A	G	A16175894G	TAPT1	NM_153365.3(TAPT1):c.1107+225T>C	noncoding	Benign
4	16179498	T	C	T16179498C	TAPT1	NM_153365.3(TAPT1):c.997+79A>G	noncoding	Benign
4	16179678	A	G	A16179678G	TAPT1	NM_153365.3(TAPT1):c.917-21T>C	noncoding	Benign
4	16179802	A	G	A16179802G	TAPT1	NM_153365.3(TAPT1):c.917-145T>C	noncoding	Benign
4	16179804	G	A	G16179804A	TAPT1	NM_153365.3(TAPT1):c.917-147C>T	noncoding	Benign
4	16179805	T	A	T16179805A	TAPT1	NM_153365.3(TAPT1):c.917-148A>T	noncoding	Benign
4	16179826	G	A	G16179826A	TAPT1	NM_153365.3(TAPT1):c.917-169C>T	noncoding	Benign
4	16179828	A	G	A16179828G	TAPT1	NM_153365.3(TAPT1):c.917-171T>C	noncoding	Benign
4	16179947	T	C	T16179947C	TAPT1	NM_153365.3(TAPT1):c.917-290A>G	noncoding	Benign
4	16179958	G	A	G16179958A	TAPT1	NM_153365.3(TAPT1):c.917-301C>T	noncoding	Benign
4	16179958	G	C	G16179958C	TAPT1	NM_153365.3(TAPT1):c.917-301C>G	noncoding	Benign
4	16186258	A	G	A16186258G	TAPT1	NM_153365.3(TAPT1):c.916+277T>C	noncoding	Benign
4	16186270	C	T	C16186270T	TAPT1	NM_153365.3(TAPT1):c.916+265G>A	noncoding	Benign
4	16186997	T	C	T16186997C	TAPT1	NM_153365.3(TAPT1):c.749-119A>G	noncoding	Benign
4	16188368	A	T	A16188368T	TAPT1	NM_153365.3(TAPT1):c.613-13T>A	noncoding	Benign
4	16188450	T	G	T16188450G	TAPT1	NM_153365.3(TAPT1):c.613-95A>C	noncoding	Benign
4	16188596	A	G	A16188596G	TAPT1	NM_153365.3(TAPT1):c.613-241T>C	noncoding	Benign
4	16188596	A	T	A16188596T	TAPT1	NM_153365.3(TAPT1):c.613-241T>A	noncoding	Benign
4	16191341	G	A	G16191341A	TAPT1	NM_153365.3(TAPT1):c.612+20C>T	noncoding	Benign
4	16191617	G	A	G16191617A	TAPT1	NM_153365.3(TAPT1):c.450-94C>T	noncoding	Benign
4	16202312	T	C	T16202312C	TAPT1	NM_153365.3(TAPT1):c.449+150A>G	noncoding	Benign
4	16202603	G	A	G16202603A	TAPT1	NM_153365.3(TAPT1):c.331-23C>T	noncoding	Benign
4	16202634	A	G	A16202634G	TAPT1	NM_153365.3(TAPT1):c.331-54T>C	noncoding	Benign
4	16202726	C	T	C16202726T	TAPT1	NM_153365.3(TAPT1):c.331-146G>A	noncoding	Benign
4	16202733	A	G	A16202733G	TAPT1	NM_153365.3(TAPT1):c.331-153T>C	noncoding	Benign
4	16202770	C	T	C16202770T	TAPT1	NM_153365.3(TAPT1):c.331-190G>A	noncoding	Benign
4	16202814	T	C	T16202814C	TAPT1	NM_153365.3(TAPT1):c.331-234A>G	noncoding	Benign
4	16213828	C	T	C16213828T	TAPT1	NM_153365.3(TAPT1):c.270G>A:p.Lys90=	coding	Benign
4	16213914	T	G	T16213914G	TAPT1	NM_153365.3(TAPT1):c.200-16A>C	noncoding	Benign
4	16214232	T	C	T16214232C	TAPT1	NM_153365.3(TAPT1):c.200-334A>G	noncoding	Benign
4	16225971	A	G	A16225971G	TAPT1	NM_153365.3(TAPT1):c.199+288T>C	noncoding	Benign
4	16226158	A	G	A16226158G	TAPT1	NM_153365.3(TAPT1):c.199+101T>C	noncoding	Benign
4	16226200	G	A	G16226200A	TAPT1	NM_153365.3(TAPT1):c.199+59C>T	noncoding	Benign
4	16226321	A	C	A16226321C	TAPT1	NM_153365.3(TAPT1):c.137T>G:p.Leu46Arg	coding	Benign/Likely_benign
4	16226627	G	A	G16226627A	TAPT1	Single_allele	noncoding	Benign
4	17487222	C	T	C17487222T	QDPR	NM_000320.3(QDPR):c.644G>A:p.Trp215Ter	coding	Pathogenic
4	17487253	A	G	A17487253G	QDPR	NM_000320.3(QDPR):c.630-17T>C	noncoding	Benign
4	17487282	T	A	T17487282A	QDPR	NM_000320.3(QDPR):c.630-46A>T	noncoding	Benign
4	17487327	G	A	G17487327A	QDPR	NM_000320.3(QDPR):c.630-91C>T	noncoding	Benign
4	17487380	T	C	T17487380C	QDPR	NM_000320.3(QDPR):c.630-144A>G	noncoding	Benign
4	17490522	T	C	T17490522C	QDPR	NM_000320.3(QDPR):c.629+140A>G	noncoding	Benign
4	17490677	A	C	A17490677C	QDPR	NM_000320.3(QDPR):c.614T>G:p.Leu205Ter	coding	Pathogenic
4	17490807	T	C	T17490807C	QDPR	NM_000320.3(QDPR):c.546-62A>G	noncoding	Benign
4	17490939	A	G	A17490939G	QDPR	NM_000320.3(QDPR):c.546-194T>C	noncoding	Benign
4	17492208	A	G	A17492208G	QDPR	NM_000320.3(QDPR):c.545+24T>C	noncoding	Benign
4	17492231	C	T	C17492231T	QDPR	NM_000320.3(QDPR):c.545+1G>A	noncoding	Pathogenic
4	17492406	T	C	T17492406C	QDPR	NM_000320.3(QDPR):c.437-66A>G	noncoding	Benign
4	17492431	A	G	A17492431G	QDPR	NM_000320.3(QDPR):c.437-91T>C	noncoding	Benign
4	17492550	A	G	A17492550G	QDPR	NM_000320.3(QDPR):c.437-210T>C	noncoding	Benign
4	17499282	C	A	C17499282A	QDPR	NM_000320.3(QDPR):c.436+2437G>T	noncoding	Benign
4	17501700	T	C	T17501700C	QDPR	NM_000320.3(QDPR):c.436+19A>G	noncoding	Benign/Likely_benign
4	17501703	G	A	G17501703A	QDPR	NM_000320.3(QDPR):c.436+16C>T	noncoding	Benign
4	17501921	C	T	C17501921T	QDPR	NM_000320.3(QDPR):c.296-62G>A	noncoding	Benign
4	17501923	C	T	C17501923T	QDPR	NM_000320.3(QDPR):c.296-64G>A	noncoding	Benign
4	17501928	A	G	A17501928G	QDPR	NM_000320.3(QDPR):c.296-69T>C	noncoding	Benign
4	17501938	T	C	T17501938C	QDPR	NM_000320.3(QDPR):c.296-79A>G	noncoding	Benign
4	17502075	T	C	T17502075C	QDPR	NM_000320.3(QDPR):c.296-216A>G	noncoding	Benign
4	17504264	A	G	A17504264G	QDPR	NM_000320.3(QDPR):c.295+115T>C	noncoding	Benign
4	17504484	C	G	C17504484G	QDPR	NM_000320.3(QDPR):c.199-9G>C	noncoding	Benign
4	17504518	C	T	C17504518T	QDPR	NM_000320.3(QDPR):c.199-43G>A	noncoding	Benign
4	17504541	G	A	G17504541A	QDPR	NM_000320.3(QDPR):c.199-66C>T	noncoding	Benign
4	17509270	C	T	C17509270T	QDPR	NM_000320.3(QDPR):c.198+1G>A	noncoding	Pathogenic
4	17511835	A	G	A17511835G	QDPR	NM_000320.3(QDPR):c.105+115T>C	noncoding	Benign
4	17511933	C	T	C17511933T	QDPR	NM_000320.3(QDPR):c.105+17G>A	noncoding	Benign/Likely_benign
4	17512330	C	G	C17512330G	QDPR	Single_allele	noncoding	Benign
4	17512513	C	A	C17512513A	QDPR	Single_allele	noncoding	Benign
4	17512519	A	G	A17512519G	QDPR	Single_allele	noncoding	Benign
4	17512537	C	T	C17512537T	QDPR	Single_allele	noncoding	Benign
4	17522947	C	G	C17522947G	CLRN2	NM_001079827.2(CLRN2):c.337C>G:p.Leu113Val	coding	Benign
4	17526877	C	A	C17526877A	CLRN2	NM_001079827.2(CLRN2):c.494C>A:p.Thr165Lys	coding	Pathogenic
4	20253997	G	A	G20253997A	SLIT2	NM_004787.4(SLIT2):c.179+3G>A	noncoding	Benign
4	20488870	C	T	C20488870T	SLIT2	NM_004787.4(SLIT2):c.663C>T:p.Ser221=	coding	Benign
4	20519370	T	C	T20519370C	SLIT2	NM_004787.4(SLIT2):c.1059-12T>C	noncoding	Benign
4	20523914	G	A	G20523914A	SLIT2	NM_004787.4(SLIT2):c.1274+11G>A	noncoding	Benign
4	20529114	C	T	C20529114T	SLIT2	NM_004787.4(SLIT2):c.1613+15C>T	noncoding	Benign
4	20532041	T	C	T20532041C	SLIT2	NM_004787.4(SLIT2):c.1671T>C:p.Leu557=	coding	Benign
4	20539564	T	C	T20539564C	SLIT2	NM_004787.4(SLIT2):c.1956T>C:p.Thr652=	coding	Benign
4	20542561	C	T	C20542561T	SLIT2	NM_004787.4(SLIT2):c.2211C>T:p.Val737=	coding	Benign
4	20550887	A	C	A20550887C	SLIT2	NM_004787.4(SLIT2):c.2550A>C:p.Ala850=	coding	Benign
4	20567631	A	G	A20567631G	SLIT2	NM_004787.4(SLIT2):c.2948+16A>G	noncoding	Benign
4	20610006	G	A	G20610006A	SLIT2	NM_004787.4(SLIT2):c.3693-7G>A	noncoding	Benign
4	22387861	A	T	A22387861T	ADGRA3	NM_145290.4(ADGRA3):c.3810T>A:p.Ala1270=	coding	Benign
4	22388084	G	C	G22388084C	ADGRA3	NM_145290.4(ADGRA3):c.3587C>G:p.Thr1196Arg	coding	Benign
4	22388174	A	C	A22388174C	ADGRA3	NM_145290.4(ADGRA3):c.3497T>G:p.Val1166Gly	coding	Benign
4	22388544	C	T	C22388544T	ADGRA3	NM_145290.4(ADGRA3):c.3127G>A:p.Val1043Met	coding	Benign
4	22388656	T	C	T22388656C	ADGRA3	NM_145290.4(ADGRA3):c.3015A>G:p.Leu1005=	coding	Benign
4	22388770	A	G	A22388770G	ADGRA3	NM_145290.4(ADGRA3):c.2901T>C:p.Asn967=	coding	Benign
4	22388935	T	C	T22388935C	ADGRA3	NM_145290.4(ADGRA3):c.2736A>G:p.Ala912=	coding	Benign
4	22388961	T	C	T22388961C	ADGRA3	NM_145290.4(ADGRA3):c.2724-14A>G	noncoding	Benign
4	22389096	G	A	G22389096A	ADGRA3	NM_145290.4(ADGRA3):c.2715C>T:p.Asn905=	coding	Benign
4	22401411	G	A	G22401411A	ADGRA3	NM_145290.4(ADGRA3):c.2481+20C>T	noncoding	Benign
4	22401560	T	A	T22401560A	ADGRA3	NM_145290.4(ADGRA3):c.2358-6A>T	noncoding	Benign
4	22402768	G	A	G22402768A	ADGRA3	NM_145290.4(ADGRA3):c.2264C>T:p.Ala755Val	coding	Benign
4	22413403	G	A	G22413403A	ADGRA3	NM_145290.4(ADGRA3):c.2024-13C>T	noncoding	Benign
4	22413829	A	T	A22413829T	ADGRA3	NM_145290.4(ADGRA3):c.1810-15T>A	noncoding	Benign
4	22424254	A	G	A22424254G	ADGRA3	NM_145290.4(ADGRA3):c.1542T>C:p.Ile514=	coding	Benign
4	22438236	G	A	G22438236A	ADGRA3	NM_145290.4(ADGRA3):c.1085+20C>T	noncoding	Benign
4	22438291	A	C	A22438291C	ADGRA3	NM_145290.4(ADGRA3):c.1050T>G:p.Pro350=	coding	Benign
4	22442637	A	T	A22442637T	ADGRA3	NM_145290.4(ADGRA3):c.920+13T>A	noncoding	Benign
4	22442712	G	A	G22442712A	ADGRA3	NM_145290.4(ADGRA3):c.858C>T:p.Thr286=	coding	Benign
4	22447507	G	T	G22447507T	ADGRA3	NM_145290.4(ADGRA3):c.478C>A:p.Leu160Ile	coding	Benign
4	22454951	T	C	T22454951C	ADGRA3	NM_145290.4(ADGRA3):c.402-14A>G	noncoding	Benign
4	22515724	G	C	G22515724C	ADGRA3	NM_145290.4(ADGRA3):c.61C>G:p.Leu21Val	coding	Benign
4	22515732	G	C	G22515732C	ADGRA3	NM_145290.4(ADGRA3):c.53C>G:p.Pro18Arg	coding	Benign
4	25125727	G	T	G25125727T	SEPSECS	NM_016955.4(SEPSECS):c.1178C>A:p.Ser393Ter	coding	Pathogenic
4	25144685	G	A	G25144685A	SEPSECS	NM_016955.4(SEPSECS):c.1026+89C>T	noncoding	Benign
4	25145127	G	A	G25145127A	SEPSECS	NM_016955.4(SEPSECS):c.811C>T:p.Arg271Ter	coding	Pathogenic
4	25151998	C	A	C25151998A	SEPSECS	NM_016955.4(SEPSECS):c.766G>T:p.Gly256Ter	coding	Pathogenic/Likely_pathogenic
4	25152049	C	T	C25152049T	SEPSECS	NM_016955.4(SEPSECS):c.715G>A:p.Ala239Thr	coding	Pathogenic/Likely_pathogenic
4	25152072	T	C	T25152072C	SEPSECS	NM_016955.4(SEPSECS):c.702-10A>G	noncoding	Benign
4	25156118	G	A	G25156118A	SEPSECS	NM_016955.4(SEPSECS):c.466C>T:p.Arg156Ter	coding	Pathogenic
4	25156333	A	C	A25156333C	SEPSECS	NM_016955.4(SEPSECS):c.389-138T>G	noncoding	Benign
4	25156931	G	A	G25156931A	SEPSECS	NM_016955.4(SEPSECS):c.313C>T:p.Gln105Ter	coding	Pathogenic
4	25159917	G	A	G25159917A	SEPSECS	NM_016955.4(SEPSECS):c.114+339C>T	noncoding	Benign
4	25160093	G	C	G25160093C	SEPSECS	NM_016955.4(SEPSECS):c.114+163C>G	noncoding	Benign
4	25160369	T	A	T25160369A	SEPSECS	NM_016955.4(SEPSECS):c.1A>T:p.Met1Leu	coding	Pathogenic
4	25160369	T	C	T25160369C	SEPSECS	NM_016955.4(SEPSECS):c.1A>G:p.Met1Val	coding	Pathogenic
4	25160758	G	T	G25160758T	SEPSECS	Single_allele	noncoding	Benign
4	25662622	G	A	G25662622A	SLC34A2	NM_006424.3(SLC34A2):c.112+10G>A	noncoding	Benign
4	25664345	G	C	G25664345C	SLC34A2	NM_006424.3(SLC34A2):c.379+15G>C	noncoding	Benign
4	25670718	C	T	C25670718T	SLC34A2	NM_006424.3(SLC34A2):c.832-20C>T	noncoding	Benign
4	25670759	C	T	C25670759T	SLC34A2	NM_006424.3(SLC34A2):c.853C>T:p.Gln285Ter	coding	Pathogenic
4	25671662	C	T	C25671662T	SLC34A2	NM_006424.3(SLC34A2):c.989C>T:p.Thr330Met	coding	Benign
4	25673127	T	C	T25673127C	SLC34A2	NM_006424.3(SLC34A2):c.1089T>C:p.Ala363=	coding	Benign
4	25673291	A	G	A25673291G	SLC34A2	NM_006424.3(SLC34A2):c.1216+37A>G	noncoding	Benign
4	26320420	G	A	G26320420A	RBPJ	NM_005349.4(RBPJ):c.-57-280G>A	noncoding	Benign
4	26320827	G	C	G26320827C	RBPJ	NM_015874.4(RBPJ):c.-202G>C	coding	Benign
4	26405890	G	A	G26405890A	RBPJ	NM_015874.6(RBPJ):c.60-285G>A	noncoding	Benign
4	26406059	A	G	A26406059G	RBPJ	NM_015874.6(RBPJ):c.60-116A>G	noncoding	Benign
4	26406107	G	A	G26406107A	RBPJ	NM_015874.6(RBPJ):c.60-68G>A	noncoding	Benign
4	26415264	G	A	G26415264A	RBPJ	NM_015874.6(RBPJ):c.156-211G>A	noncoding	Benign
4	26415296	G	A	G26415296A	RBPJ	NM_015874.6(RBPJ):c.156-179G>A	noncoding	Benign
4	26415457	T	C	T26415457C	RBPJ	NM_015874.6(RBPJ):c.156-18T>C	noncoding	Benign
4	26415514	T	C	T26415514C	RBPJ	NM_015874.6(RBPJ):c.195T>C:p.Ser65=	coding	Benign
4	26420422	G	T	G26420422T	RBPJ	NM_015874.6(RBPJ):c.322-129G>T	noncoding	Benign
4	26420885	G	A	G26420885A	RBPJ	NM_015874.6(RBPJ):c.496+160G>A	noncoding	Benign
4	26424229	C	G	C26424229G	RBPJ	NM_015874.6(RBPJ):c.497-113C>G	noncoding	Benign
4	26424494	G	A	G26424494A	RBPJ	NM_015874.6(RBPJ):c.634+15G>A	noncoding	Benign
4	26424494	G	T	G26424494T	RBPJ	NM_015874.6(RBPJ):c.634+15G>T	noncoding	Benign/Likely_benign
4	26428525	A	G	A26428525G	RBPJ	NM_015874.6(RBPJ):c.748-195A>G	noncoding	Benign
4	26428874	T	C	T26428874C	RBPJ	NM_015874.6(RBPJ):c.888+14T>C	noncoding	Benign
4	26429624	A	G	A26429624G	RBPJ	NM_015874.6(RBPJ):c.889-274A>G	noncoding	Benign
4	26429764	A	G	A26429764G	RBPJ	NM_015874.6(RBPJ):c.889-134A>G	noncoding	Benign
4	26430061	C	T	C26430061T	RBPJ	NM_015874.6(RBPJ):c.1044+8C>T	noncoding	Benign
4	26431200	A	G	A26431200G	RBPJ	NM_015874.6(RBPJ):c.*193A>G	noncoding	Benign
4	36290387	T	A	T36290387A	DTHD1	NM_001170700.3(DTHD1):c.902T>A:p.Leu301Gln	coding	Benign
4	36290396	T	A	T36290396A	DTHD1	NM_001170700.3(DTHD1):c.911T>A:p.Val304Asp	coding	Benign
4	36290411	T	G	T36290411G	DTHD1	NM_001170700.3(DTHD1):c.926T>G:p.Val309Gly	coding	Benign
4	36290597	G	A	G36290597A	DTHD1	NM_001170700.3(DTHD1):c.1112G>A:p.Arg371His	coding	Benign
4	36290719	G	C	G36290719C	DTHD1	NM_001170700.3(DTHD1):c.1218+16G>C	noncoding	Benign
4	36293508	G	T	G36293508T	DTHD1	NM_001170700.3(DTHD1):c.1219-18G>T	noncoding	Benign
4	36308324	C	T	C36308324T	DTHD1	NM_001170700.3(DTHD1):c.1926C>T:p.Asp642=	coding	Benign
4	36308354	G	A	G36308354A	DTHD1	NM_001170700.3(DTHD1):c.1956G>A:p.Val652=	coding	Benign
4	36308427	C	T	C36308427T	DTHD1	NM_001170700.3(DTHD1):c.2029C>T:p.Arg677Cys	coding	Benign
4	36308443	G	A	G36308443A	DTHD1	NM_001170700.3(DTHD1):c.2045G>A:p.Arg682Gln	coding	Benign
4	36308511	T	G	T36308511G	DTHD1	NM_001170700.3(DTHD1):c.2095+18T>G	noncoding	Benign
4	36316343	T	C	T36316343C	DTHD1	NM_001170700.3(DTHD1):c.2197T>C:p.Tyr733His	coding	Benign
4	36316348	T	C	T36316348C	DTHD1	NM_001170700.3(DTHD1):c.2202T>C:p.Ser734=	coding	Benign
4	36339094	G	A	G36339094A	DTHD1	NM_001170700.3(DTHD1):c.2341-18G>A	noncoding	Benign
4	36339131	G	A	G36339131A	DTHD1	NM_001170700.3(DTHD1):c.2360G>A:p.Arg787His	coding	Benign
4	36339133	C	A	C36339133A	DTHD1	NM_001170700.3(DTHD1):c.2362C>A:p.Pro788Thr	coding	Benign
4	36339150	A	G	A36339150G	DTHD1	NM_001170700.3(DTHD1):c.2379A>G:p.Arg793=	coding	Benign
4	36343724	G	A	G36343724A	DTHD1	NM_001170700.3(DTHD1):c.2621G>A:p.Arg874His	coding	Benign
4	36343755	G	A	G36343755A	DTHD1	NM_001170700.3(DTHD1):c.2652G>A:p.Glu884=	coding	Benign
4	38796796	A	G	A38796796G	TLR1	NM_003263.4(TLR1):c.2036T>C:p.Ile679Thr	coding	Pathogenic
4	38797508	A	G	A38797508G	TLR1	NM_003263.4(TLR1):c.1324T>C:p.Cys442Arg	coding	Pathogenic
4	39185530	G	C	G39185530C	WDR19	NM_025132.4(WDR19):c.7-196G>C	noncoding	Benign
4	39185902	G	T	G39185902T	WDR19	NM_025132.4(WDR19):c.98+85G>T	noncoding	Benign
4	39189725	C	A	C39189725A	WDR19	NM_025132.4(WDR19):c.234C>A:p.Cys78Ter	coding	Pathogenic
4	39189896	C	T	C39189896T	WDR19	NM_025132.4(WDR19):c.290+115C>T	noncoding	Benign
4	39190007	T	C	T39190007C	WDR19	NM_025132.4(WDR19):c.290+226T>C	noncoding	Benign
4	39194367	A	G	A39194367G	WDR19	NM_025132.4(WDR19):c.291-177A>G	noncoding	Benign
4	39194641	C	T	C39194641T	WDR19	NM_025132.4(WDR19):c.388C>T:p.Arg130Ter	coding	Pathogenic
4	39194787	C	T	C39194787T	WDR19	NM_025132.4(WDR19):c.406+128C>T	noncoding	Benign
4	39199512	G	A	G39199512A	WDR19	NM_025132.4(WDR19):c.441G>A:p.Trp147Ter	coding	Pathogenic
4	39203745	C	T	C39203745T	WDR19	NM_025132.4(WDR19):c.603+23C>T	noncoding	Benign
4	39205913	A	G	A39205913G	WDR19	NM_025132.4(WDR19):c.890+177A>G	noncoding	Benign
4	39215669	T	C	T39215669C	WDR19	NM_025132.4(WDR19):c.962-172T>C	noncoding	Benign
4	39215732	A	G	A39215732G	WDR19	NM_025132.4(WDR19):c.962-109A>G	noncoding	Benign
4	39215918	C	T	C39215918T	WDR19	NM_025132.4(WDR19):c.1039C>T:p.Leu347=	coding	Benign
4	39216078	C	G	C39216078G	WDR19	NM_025132.4(WDR19):c.1135-18C>G	noncoding	Benign
4	39216949	G	T	G39216949T	WDR19	NM_025132.4(WDR19):c.1250-185G>T	noncoding	Benign
4	39218060	C	G	C39218060G	WDR19	NM_025132.4(WDR19):c.1434C>G:p.Ile478Met	coding	Pathogenic/Likely_pathogenic
4	39225109	A	G	A39225109G	WDR19	NM_025132.4(WDR19):c.1629+76A>G	noncoding	Benign
4	39228151	G	A	G39228151A	WDR19	NM_025132.4(WDR19):c.1630-59G>A	noncoding	Benign
4	39228561	T	C	T39228561C	WDR19	NM_025132.4(WDR19):c.1853T>C:p.Leu618Pro	coding	Pathogenic
4	39231968	G	A	G39231968A	WDR19	NM_025132.4(WDR19):c.2142+12G>A	noncoding	Benign/Likely_benign
4	39234845	C	G	C39234845G	WDR19	NM_025132.4(WDR19):c.2333C>G:p.Ser778Ter	coding	Pathogenic
4	39240491	C	A	C39240491A	WDR19	NM_025132.4(WDR19):c.2421+157C>A	noncoding	Benign
4	39244082	A	T	A39244082T	WDR19	NM_025132.4(WDR19):c.2422-166A>T	noncoding	Benign
4	39244311	C	T	C39244311T	WDR19	NM_025132.4(WDR19):c.2485C>T:p.Arg829Ter	coding	Pathogenic
4	39244553	G	T	G39244553T	WDR19	NM_025132.4(WDR19):c.2645+1G>T	coding	Pathogenic
4	39253017	G	A	G39253017A	WDR19	NM_025132.4(WDR19):c.2730-129G>A	noncoding	Benign
4	39253749	T	A	T39253749A	WDR19	NM_025132.4(WDR19):c.2877-157T>A	noncoding	Benign
4	39253876	A	G	A39253876G	WDR19	NM_025132.4(WDR19):c.2877-30A>G	noncoding	Benign
4	39256022	A	G	A39256022G	WDR19	NM_025132.4(WDR19):c.3114+62A>G	noncoding	Benign
4	39257742	G	T	G39257742T	WDR19	NM_025132.4(WDR19):c.3183+188G>T	noncoding	Benign
4	39266152	G	A	G39266152A	WDR19	NM_025132.4(WDR19):c.3261+12G>A	noncoding	Benign/Likely_benign
4	39266160	C	T	C39266160T	WDR19	NM_025132.4(WDR19):c.3261+20C>T	noncoding	Benign
4	39268052	C	T	C39268052T	WDR19	NM_025132.4(WDR19):c.3319C>T:p.Gln1107Ter	coding	Pathogenic
4	39269921	A	G	A39269921G	WDR19	NM_025132.4(WDR19):c.3359-55A>G	noncoding	Benign
4	39277025	C	T	C39277025T	WDR19	NM_025132.4(WDR19):c.3722C>T:p.Pro1241Leu	coding	Benign/Likely_benign
4	39277114	A	G	A39277114G	WDR19	NM_025132.4(WDR19):c.3811A>G:p.Lys1271Glu	coding	Pathogenic
4	39278104	T	C	T39278104C	WDR19	NM_025132.4(WDR19):c.3841-27T>C	noncoding	Benign
4	39278287	A	G	A39278287G	WDR19	NM_025132.4(WDR19):c.3917+80A>G	noncoding	Benign
4	39299985	G	C	G39299985C	RFC1	NM_002913.5(RFC1):c.2808+36C>G	noncoding	Benign
4	39300409	T	C	T39300409C	RFC1	NM_002913.5(RFC1):c.2541A>G:p.Pro847=	coding	Benign
4	39316971	G	A	G39316971A	RFC1	NM_002913.5(RFC1):c.1147C>T:p.Arg383Ter	coding	Pathogenic
4	39342320	C	A	C39342320A	RFC1	NM_002913.5(RFC1):c.331+25G>T	noncoding	Benign
4	39351502	C	T	C39351502T	RFC1	NM_002913.5(RFC1):c.4-26G>A	noncoding	Benign
4	39406975	C	A	C39406975A	KLB	NM_175737.4(KLB):c.26C>A:p.Ser9Tyr	coding	Benign
4	39407369	C	G	C39407369G	KLB	NM_175737.4(KLB):c.420C>G:p.Ala140=	coding	Benign
4	39446909	G	A	G39446909A	KLB	NM_175737.4(KLB):c.2183G>A:p.Arg728Gln	coding	Benign
4	39446922	C	G	C39446922G	KLB	NM_175737.4(KLB):c.2196C>G:p.Pro732=	coding	Benign
4	39446966	C	T	C39446966T	KLB	NM_175737.4(KLB):c.2240C>T:p.Ala747Val	coding	Benign
4	39448425	C	T	C39448425T	KLB	NM_175737.4(KLB):c.2874C>T:p.Tyr958=	coding	Benign
4	39448609	C	A	C39448609A	KLB	NM_175737.4(KLB):c.3058C>A:p.Gln1020Lys	coding	Benign
4	39454772	G	A	G39454772A	RPL9	NM_000661.5(RPL9):c.472+92C>T	noncoding	Benign
4	39455015	T	C	T39455015C	RPL9	NM_000661.5(RPL9):c.392-71A>G	noncoding	Benign
4	39456237	T	C	T39456237C	RPL9	NM_000661.5(RPL9):c.391+169A>G	noncoding	Benign
4	39456390	G	C	G39456390C	RPL9	NM_000661.5(RPL9):c.391+16C>G	noncoding	Benign
4	39456431	A	G	A39456431G	RPL9	NM_000661.5(RPL9):c.366T>C:p.Tyr122=	coding	Benign
4	39457411	T	C	T39457411C	RPL9	NM_000661.5(RPL9):c.258+175A>G	noncoding	Benign
4	39457534	G	A	G39457534A	RPL9	NM_000661.5(RPL9):c.258+52C>T	noncoding	Benign
4	39458104	T	C	T39458104C	RPL9	NM_000661.5(RPL9):c.162+90A>G	noncoding	Benign
4	39458708	G	A	G39458708A	LIAS	NM_000661.5(RPL9):c.-2+183C>T	noncoding	Benign
4	39458732	C	G	C39458732G	LIAS	NM_000661.5(RPL9):c.-2+159G>C	noncoding	Benign
4	39458870	C	G	C39458870G	LIAS	NM_000661.5(RPL9):c.-2+21G>C	noncoding	Benign
4	39458952	G	A	G39458952A	LIAS	Single_allele	noncoding	Benign
4	39460844	A	T	A39460844T	LIAS	NM_006859.4(LIAS):c.100A>T:p.Lys34Ter	coding	Pathogenic/Likely_pathogenic
4	39460873	A	G	A39460873G	LIAS	NM_006859.4(LIAS):c.129A>G:p.Pro43=	coding	Benign/Likely_benign
4	39465019	A	G	A39465019G	LIAS	NM_006859.4(LIAS):c.394-27A>G	noncoding	Benign
4	39467334	C	T	C39467334T	LIAS	NM_006859.4(LIAS):c.609-184C>T	noncoding	Benign
4	39467558	C	T	C39467558T	LIAS	NM_006859.4(LIAS):c.649C>T:p.Arg217Ter	coding	Pathogenic
4	39467796	C	G	C39467796G	LIAS	NM_006859.4(LIAS):c.737+150C>G	noncoding	Benign
4	39469785	A	C	A39469785C	LIAS	NM_006859.4(LIAS):c.738-234A>C	noncoding	Benign
4	39470130	C	T	C39470130T	LIAS	NM_006859.4(LIAS):c.849C>T:p.Gly283=	coding	Benign/Likely_benign
4	39476769	G	A	G39476769A	LIAS	NM_006859.4(LIAS):c.1067-294G>A	noncoding	Benign
4	39477129	C	A	C39477129A	LIAS	NM_006859.4(LIAS):c.*14C>A	noncoding	Benign
4	39477212	G	A	G39477212A	LIAS	NM_006859.4(LIAS):c.*97G>A	noncoding	Benign
4	39477256	T	C	T39477256C	LIAS	NM_006859.4(LIAS):c.*141T>C	noncoding	Benign
4	39510705	G	A	G39510705A	UGDH	NM_003359.4(UGDH):c.421C>T:p.Arg141Cys	coding	Benign
4	41256670	A	G	A41256670G	UCHL1	NR_102709.1(UCHL1-DT):n.58T>C	noncoding	Benign
4	41256671	A	G	A41256671G	UCHL1	NR_102709.1(UCHL1-DT):n.57T>C	noncoding	Benign
4	41256695	G	C	G41256695C	UCHL1	NR_102709.1(UCHL1-DT):n.33C>G	noncoding	Benign
4	41256745	G	A	G41256745A	UCHL1	Single_allele	noncoding	Benign
4	41257096	C	T	C41257096T	UCHL1	NM_004181.5(UCHL1):c.34-19C>T	noncoding	Benign/Likely_benign
4	41257145	C	A	C41257145A	UCHL1	NM_004181.5(UCHL1):c.45+19C>A	noncoding	Benign
4	41257223	C	G	C41257223G	UCHL1	NM_004181.5(UCHL1):c.45+97C>G	noncoding	Benign
4	41257920	G	A	G41257920A	UCHL1	NM_004181.5(UCHL1):c.174+183G>A	noncoding	Benign
4	41260629	C	T	C41260629T	UCHL1	NM_004181.5(UCHL1):c.175-18C>T	noncoding	Benign
4	41263076	T	C	T41263076C	UCHL1	NM_004181.5(UCHL1):c.460-149T>C	noncoding	Benign
4	41263904	A	G	A41263904G	UCHL1	NM_004181.5(UCHL1):c.527-199A>G	noncoding	Benign
4	41263972	C	G	C41263972G	UCHL1	NM_004181.5(UCHL1):c.527-131C>G	noncoding	Benign
4	41263977	C	A	C41263977A	UCHL1	NM_004181.5(UCHL1):c.527-126C>A	noncoding	Benign
4	41264029	C	A	C41264029A	UCHL1	NM_004181.5(UCHL1):c.527-74C>A	noncoding	Benign
4	41264278	C	T	C41264278T	UCHL1	NM_004181.5(UCHL1):c.585+117C>T	noncoding	Benign
4	41745807	T	C	T41745807C	PHOX2B	NM_003924.4(PHOX2B):c.945A>G:p.Ter315Trp	coding	Pathogenic/Likely_pathogenic
4	41745807	T	G	T41745807G	PHOX2B	NM_003924.4(PHOX2B):c.945A>C:p.Ter315Cys	coding	Pathogenic
4	41746113	G	C	G41746113C	PHOX2B	NM_003924.4(PHOX2B):c.639C>G:p.Gly213=	coding	Benign/Likely_benign
4	41746161	G	C	G41746161C	PHOX2B	NM_003924.4(PHOX2B):c.591C>G:p.Gly197=	coding	Benign/Likely_benign
4	41746205	C	A	C41746205A	PHOX2B	NM_003924.4(PHOX2B):c.547G>T:p.Glu183Ter	coding	Pathogenic
4	41746286	G	A	G41746286A	PHOX2B	NM_003924.4(PHOX2B):c.466C>T:p.Gln156Ter	coding	Pathogenic
4	41746494	T	G	T41746494G	PHOX2B	NM_003924.4(PHOX2B):c.430-172A>C	noncoding	Benign
4	41747248	T	C	T41747248C	PHOX2B	NM_003924.4(PHOX2B):c.429+101A>G	noncoding	Benign
4	41747350	T	C	T41747350C	PHOX2B	NM_003924.4(PHOX2B):c.428A>G:p.Gln143Arg	coding	Pathogenic
4	41747486	G	A	G41747486A	PHOX2B	NM_003924.4(PHOX2B):c.292C>T:p.Gln98Ter	coding	Pathogenic
4	41747537	C	T	C41747537T	PHOX2B	NM_003924.4(PHOX2B):c.242-1G>A	coding	Pathogenic
4	41747651	C	T	C41747651T	PHOX2B	NM_003924.4(PHOX2B):c.242-115G>A	noncoding	Benign
4	41748598	C	A	C41748598A	PHOX2B	NM_003924.4(PHOX2B):c.13G>T:p.Glu5Ter	coding	Pathogenic
4	41749194	G	A	G41749194A	PHOX2B	Single_allele	noncoding	Benign
4	41749306	G	A	G41749306A	PHOX2B	Single_allele	noncoding	Benign
4	41990660	C	G	C41990660G	SLC30A9	NM_006345.4(SLC30A9):c.9C>G:p.Pro3=	coding	Benign
4	42001654	A	G	A42001654G	SLC30A9	NM_006345.4(SLC30A9):c.148A>G:p.Met50Val	coding	Benign
4	42001818	C	G	C42001818G	SLC30A9	NM_006345.4(SLC30A9):c.274+38C>G	noncoding	Benign
4	42018125	A	G	A42018125G	SLC30A9	NM_006345.4(SLC30A9):c.289A>G:p.Thr97Ala	coding	Benign
4	42020447	C	A	C42020447A	SLC30A9	NM_006345.4(SLC30A9):c.366C>A:p.Gly122=	coding	Benign
4	42022965	A	G	A42022965G	SLC30A9	NM_006345.4(SLC30A9):c.527+35A>G	noncoding	Benign
4	42893456	G	A	G42893456A	GRXCR1	NM_001080476.3(GRXCR1):c.190G>A:p.Gly64Ser	coding	Benign
4	42893698	A	G	A42893698G	GRXCR1	NM_001080476.3(GRXCR1):c.384+48A>G	noncoding	Benign
4	42893854	G	A	G42893854A	GRXCR1	NM_001080476.3(GRXCR1):c.384+204G>A	noncoding	Benign
4	42962976	G	T	G42962976T	GRXCR1	NM_001080476.3(GRXCR1):c.469G>T:p.Glu157Ter	coding	Pathogenic/Likely_pathogenic
4	42963057	G	T	G42963057T	GRXCR1	NM_001080476.3(GRXCR1):c.550G>T:p.Glu184Ter	coding	Pathogenic
4	42963309	G	A	G42963309A	GRXCR1	NM_001080476.3(GRXCR1):c.627+175G>A	noncoding	Benign
4	43020205	T	C	T43020205C	GRXCR1	NM_001080476.3(GRXCR1):c.628-149T>C	noncoding	Benign
4	43020609	C	T	C43020609T	GRXCR1	NM_001080476.3(GRXCR1):c.693+190C>T	noncoding	Benign
4	43030384	T	A	T43030384A	GRXCR1	NM_001080476.3(GRXCR1):c.717T>A:p.Cys239Ter	coding	Pathogenic
4	44680448	T	C	T44680448C	GUF1	NM_021927.3(GUF1):c.173T>C:p.Leu58Pro	coding	Benign
4	44682421	A	G	A44682421G	GUF1	NM_021927.3(GUF1):c.585+10A>G	noncoding	Benign
4	44682438	C	T	C44682438T	GUF1	NM_021927.3(GUF1):c.585+27C>T	noncoding	Benign
4	44683208	T	A	T44683208A	GUF1	NM_021927.3(GUF1):c.586-27T>A	noncoding	Benign
4	44683303	T	C	T44683303C	GUF1	NM_021927.3(GUF1):c.654T>C:p.Ser218=	coding	Benign
4	44686024	G	A	G44686024A	GUF1	NM_021927.3(GUF1):c.734+1G>A	coding	Benign
4	44686604	G	A	G44686604A	GUF1	NM_021927.3(GUF1):c.829G>A:p.Asp277Asn	coding	Benign
4	44694521	C	G	C44694521G	GUF1	NM_021927.3(GUF1):c.1715+8C>G	noncoding	Benign
4	44697467	T	G	T44697467G	GUF1	NM_021927.3(GUF1):c.1872+23T>G	noncoding	Benign
4	46256321	T	G	T46256321G	GABRA2	NM_000807.4(GABRA2):c.1059+5605A>C	coding	Benign
4	46261990	G	A	G46261990A	GABRA2	NM_000807.4(GABRA2):c.995C>T:p.Ala332Val	coding	Pathogenic
4	46262061	A	T	A46262061T	GABRA2	NM_000807.4(GABRA2):c.924T>A:p.Ala308=	coding	Benign
4	46262368	C	A	C46262368A	GABRA2	NM_000807.4(GABRA2):c.857-240G>T	noncoding	Benign
4	46303441	A	G	A46303441G	GABRA2	NM_000807.4(GABRA2):c.856+19T>C	noncoding	Benign
4	46305557	A	G	A46305557G	GABRA2	NM_000807.4(GABRA2):c.703+11T>C	noncoding	Benign
4	46312576	T	C	T46312576C	GABRA2	NM_000807.4(GABRA2):c.396A>G:p.Lys132=	coding	Benign
4	46332596	T	C	T46332596C	GABRA2	NM_000807.4(GABRA2):c.255+19A>G	noncoding	Benign
4	46332685	A	G	A46332685G	GABRA2	NM_000807.4(GABRA2):c.188-3T>C	noncoding	Benign
4	47032404	A	T	A47032404T	GABRB1	NM_000812.4(GABRB1):c.173-13A>T	noncoding	Benign
4	47161308	T	C	T47161308C	GABRB1	NM_000812.4(GABRB1):c.300T>C:p.Ser100=	coding	Benign
4	47161425	A	G	A47161425G	GABRB1	NM_000812.4(GABRB1):c.417A>G:p.Arg139=	coding	Benign
4	47320107	T	C	T47320107C	GABRB1	NM_000812.4(GABRB1):c.462-20T>C	noncoding	Benign
4	47320173	T	C	T47320173C	GABRB1	NM_000812.4(GABRB1):c.508T>C:p.Leu170=	coding	Benign
4	47320202	C	A	C47320202A	GABRB1	NM_000812.4(GABRB1):c.537C>A:p.Ile179=	coding	Benign
4	47403305	T	C	T47403305C	GABRB1	NM_000812.4(GABRB1):c.545-13T>C	noncoding	Benign
4	47406692	A	G	A47406692G	GABRB1	NM_000812.4(GABRB1):c.846A>G:p.Thr282=	coding	Benign
4	47406821	C	T	C47406821T	GABRB1	NM_000812.4(GABRB1):c.975C>T:p.Ala325=	coding	Benign
4	47406887	T	G	T47406887G	GABRB1	NM_000812.4(GABRB1):c.1041T>G:p.Ser347Arg	coding	Benign
4	47425856	C	G	C47425856G	GABRB1	NM_000812.4(GABRB1):c.1263C>G:p.His421Gln	coding	Benign/Likely_benign
4	47643044	G	A	G47643044A	CORIN	NM_006587.4(CORIN):c.2068+102C>T	coding	Benign
4	47936543	T	C	T47936543C	CNGA1	NM_001379270.1(CNGA1):c.1939A>G:p.Met647Val	coding	Benign
4	47936550	A	T	A47936550T	CNGA1	NM_001379270.1(CNGA1):c.1932T>A:p.Tyr644Ter	coding	Pathogenic
4	47936609	G	A	G47936609A	CNGA1	NM_001379270.1(CNGA1):c.1873C>T:p.Arg625Ter	coding	Pathogenic
4	47936957	C	T	C47936957T	CNGA1	NM_001379270.1(CNGA1):c.1525G>A:p.Gly509Arg	coding	Pathogenic
4	47937761	G	A	G47937761A	CNGA1	NM_001379270.1(CNGA1):c.721C>T:p.Gln241Ter	coding	Pathogenic
4	47940887	C	T	C47940887T	CNGA1	NM_001379270.1(CNGA1):c.546-18G>A	noncoding	Benign
4	47942077	A	T	A47942077T	CNGA1	NM_001379270.1(CNGA1):c.509T>A:p.Leu170Ter	coding	Pathogenic
4	47943438	C	G	C47943438G	CNGA1	NM_001379270.1(CNGA1):c.288-26G>C	noncoding	Benign
4	47949928	G	A	G47949928A	CNGA1	NM_001379270.1(CNGA1):c.225-33C>T	noncoding	Benign
4	47951130	T	C	T47951130C	CNGA1	NM_001379270.1(CNGA1):c.224+223A>G	noncoding	Benign
4	47951429	C	A	C47951429A	CNGA1	NM_001379270.1(CNGA1):c.148G>T:p.Glu50Ter	coding	Pathogenic
4	47951498	A	G	A47951498G	CNGA1	NM_001379270.1(CNGA1):c.108-29T>C	noncoding	Benign
4	47951498	A	T	A47951498T	CNGA1	NM_001379270.1(CNGA1):c.108-29T>A	noncoding	Benign
4	48580892	G	A	G48580892A	FRYL	NM_015030.2(FRYL):c.2232C>T:p.Ser744=	coding	Benign
4	52028100	C	G	C52028100G	SGCB	NM_000232.5(SGCB):c.622-1G>C	coding	Pathogenic
4	52028750	G	A	G52028750A	SGCB	NM_000232.5(SGCB):c.601C>T:p.Gln201Ter	coding	Pathogenic
4	52029782	G	A	G52029782A	SGCB	NM_000232.5(SGCB):c.325C>T:p.Arg109Ter	coding	Pathogenic/Likely_pathogenic
4	52029846	C	T	C52029846T	SGCB	NM_000232.5(SGCB):c.261G>A:p.Trp87Ter	coding	Pathogenic
4	52033429	A	G	A52033429G	SGCB	NM_000232.5(SGCB):c.243+2T>C	noncoding	Pathogenic
4	52033592	C	A	C52033592A	SGCB	NM_000232.5(SGCB):c.82G>T:p.Glu28Ter	coding	Pathogenic
4	52033641	C	T	C52033641T	SGCB	NM_000232.5(SGCB):c.34-1G>A	coding	Pathogenic/Likely_pathogenic
4	52038257	C	A	C52038257A	SGCB	NM_000232.5(SGCB):c.3G>T:p.Met1Ile	coding	Pathogenic
4	54099937	G	A	G54099937A	GSX2	Single_allele	noncoding	Benign
4	54100500	C	T	C54100500T	GSX2	NM_133267.3(GSX2):c.156C>T:p.Ser52=	coding	Benign
4	54100663	G	A	G54100663A	GSX2	NM_133267.3(GSX2):c.319G>A:p.Gly107Ser	coding	Benign
4	54100752	T	C	T54100752C	GSX2	NM_133267.3(GSX2):c.408T>C:p.His136=	coding	Benign
4	54101047	C	T	C54101047T	GSX2	NM_133267.3(GSX2):c.574+129C>T	noncoding	Benign
4	54101463	A	T	A54101463T	GSX2	NM_133267.3(GSX2):c.575-119A>T	noncoding	Benign
4	54101542	C	A	C54101542A	GSX2	NM_133267.3(GSX2):c.575-40C>A	noncoding	Benign
4	54258424	A	G	A54258424G	PDGFRA	NM_006206.6(PDGFRA):c.-12-333A>G	noncoding	Benign
4	54258600	A	G	A54258600G	PDGFRA	NM_006206.6(PDGFRA):c.-12-157A>G	noncoding	Benign
4	54258891	A	T	A54258891T	PDGFRA	NM_006206.6(PDGFRA):c.49+74A>T	noncoding	Benign
4	54263719	G	A	G54263719A	PDGFRA	NM_006206.6(PDGFRA):c.420G>A:p.Val140=	coding	Benign/Likely_benign
4	54263987	G	A	G54263987A	PDGFRA	NM_006206.6(PDGFRA):c.628+60G>A	noncoding	Benign
4	54264627	T	G	T54264627G	PDGFRA	NM_006206.6(PDGFRA):c.629-292T>G	noncoding	Benign
4	54265283	C	A	C54265283A	PDGFRA	NM_006206.6(PDGFRA):c.759+234C>A	noncoding	Benign
4	54267085	T	C	T54267085C	PDGFRA	NM_006206.6(PDGFRA):c.760-204T>C	noncoding	Benign
4	54267792	C	T	C54267792T	PDGFRA	NM_006206.6(PDGFRA):c.1121+51C>T	noncoding	Benign
4	54268016	G	T	G54268016T	PDGFRA	NM_006206.6(PDGFRA):c.1121+275G>T	noncoding	Benign
4	54271016	T	C	T54271016C	PDGFRA	NM_006206.6(PDGFRA):c.1237+268T>C	noncoding	Benign
4	54273811	T	C	T54273811C	PDGFRA	NM_006206.6(PDGFRA):c.1558+81T>C	noncoding	Benign
4	54273849	T	C	T54273849C	PDGFRA	NM_006206.6(PDGFRA):c.1558+119T>C	noncoding	Benign
4	54273864	T	G	T54273864G	PDGFRA	NM_006206.6(PDGFRA):c.1558+134T>G	noncoding	Benign
4	54275126	G	A	G54275126A	PDGFRA	NM_006206.6(PDGFRA):c.1786+153G>A	noncoding	Benign
4	54277119	G	A	G54277119A	PDGFRA	NM_006206.6(PDGFRA):c.1787-269G>A	noncoding	Benign
4	54277154	C	T	C54277154T	PDGFRA	NM_006206.6(PDGFRA):c.1787-234C>T	noncoding	Benign
4	54277368	A	G	A54277368G	PDGFRA	NM_006206.6(PDGFRA):c.1787-20A>G	noncoding	Benign
4	54277879	A	G	A54277879G	PDGFRA	NM_006206.6(PDGFRA):c.1892-17A>G	noncoding	Benign
4	54278246	A	C	A54278246C	PDGFRA	NM_006206.6(PDGFRA):c.2003-116A>C	noncoding	Benign
4	54278253	A	G	A54278253G	PDGFRA	NM_006206.6(PDGFRA):c.2003-109A>G	noncoding	Benign
4	54278280	T	C	T54278280C	PDGFRA	NM_006206.6(PDGFRA):c.2003-82T>C	noncoding	Benign
4	54278344	C	T	C54278344T	PDGFRA	NM_006206.6(PDGFRA):c.2003-18C>T	noncoding	Benign
4	54280222	C	T	C54280222T	PDGFRA	NM_006206.6(PDGFRA):c.2157-94C>T	noncoding	Benign
4	54280495	A	G	A54280495G	PDGFRA	NM_006206.6(PDGFRA):c.2323+13A>G	noncoding	Benign
4	54280587	C	A	C54280587A	PDGFRA	NM_006206.6(PDGFRA):c.2323+105C>A	noncoding	Benign
4	54280759	T	A	T54280759A	PDGFRA	NM_006206.6(PDGFRA):c.2323+277T>A	noncoding	Benign
4	54280760	T	A	T54280760A	PDGFRA	NM_006206.6(PDGFRA):c.2323+278T>A	noncoding	Benign
4	54280761	A	T	A54280761T	PDGFRA	NM_006206.6(PDGFRA):c.2323+279A>T	noncoding	Benign
4	54285544	C	A	C54285544A	PDGFRA	NM_006206.6(PDGFRA):c.2439+58C>A	noncoding	Benign
4	54285648	C	T	C54285648T	PDGFRA	NM_006206.6(PDGFRA):c.2439+162C>T	noncoding	Benign
4	54285938	A	T	A54285938T	PDGFRA	NM_006206.6(PDGFRA):c.2537A>T:p.Asp846Val	coding	Pathogenic
4	54286117	T	G	T54286117G	PDGFRA	NM_006206.6(PDGFRA):c.2562+154T>G	noncoding	Benign
4	54287670	A	G	A54287670G	PDGFRA	NM_006206.6(PDGFRA):c.2674+129A>G	noncoding	Benign
4	54287754	T	C	T54287754C	PDGFRA	NM_006206.6(PDGFRA):c.2674+213T>C	noncoding	Benign
4	54288724	T	C	T54288724C	PDGFRA	NM_006206.6(PDGFRA):c.2675-75T>C	noncoding	Benign
4	54289331	A	G	A54289331G	PDGFRA	NM_006206.6(PDGFRA):c.2880+217A>G	noncoding	Benign
4	54289999	A	G	A54289999G	PDGFRA	NM_006206.6(PDGFRA):c.2881-314A>G	noncoding	Benign
4	54290133	C	T	C54290133T	PDGFRA	NM_006206.6(PDGFRA):c.2881-180C>T	noncoding	Benign
4	54290213	G	A	G54290213A	PDGFRA	NM_006206.6(PDGFRA):c.2881-100G>A	noncoding	Benign
4	54290233	A	G	A54290233G	PDGFRA	NM_006206.6(PDGFRA):c.2881-80A>G	noncoding	Benign
4	54290698	C	T	C54290698T	PDGFRA	NM_006206.6(PDGFRA):c.3122+144C>T	noncoding	Benign
4	54657771	G	A	G54657771A	KIT	Single_allele	noncoding	Benign
4	54658137	T	C	T54658137C	KIT	NM_000222.3(KIT):c.67+56T>C	noncoding	Benign
4	54658171	A	G	A54658171G	KIT	NM_000222.3(KIT):c.67+90A>G	noncoding	Benign
4	54658297	A	G	A54658297G	KIT	NM_000222.3(KIT):c.67+216A>G	noncoding	Benign
4	54658366	C	G	C54658366G	KIT	NM_000222.3(KIT):c.67+285C>G	noncoding	Benign
4	54695382	T	C	T54695382C	KIT	NM_000222.3(KIT):c.68-130T>C	noncoding	Benign
4	54695966	A	G	A54695966G	KIT	NM_000222.3(KIT):c.337+185A>G	noncoding	Benign
4	54698018	A	G	A54698018G	KIT	NM_000222.3(KIT):c.338-266A>G	noncoding	Benign
4	54698809	G	C	G54698809C	KIT	NM_000222.3(KIT):c.619+244G>C	noncoding	Benign
4	54699564	A	G	A54699564G	KIT	NM_000222.3(KIT):c.620-66A>G	noncoding	Benign
4	54699909	A	G	A54699909G	KIT	NM_000222.3(KIT):c.756+143A>G	noncoding	Benign
4	54703494	C	T	C54703494T	KIT	NM_000222.3(KIT):c.757-230C>T	noncoding	Benign
4	54704037	C	T	C54704037T	KIT	NM_000222.3(KIT):c.925+145C>T	noncoding	Benign
4	54706804	T	A	T54706804A	KIT	NM_000222.3(KIT):c.926-294T>A	noncoding	Benign
4	54707527	G	A	G54707527A	KIT	NM_000222.3(KIT):c.1115+240G>A	noncoding	Benign
4	54709108	C	G	C54709108G	KIT	NM_000222.3(KIT):c.1116-316C>G	noncoding	Benign
4	54709233	C	T	C54709233T	KIT	NM_000222.3(KIT):c.1116-191C>T	noncoding	Benign
4	54709434	G	T	G54709434T	KIT	NM_000222.3(KIT):c.1126G>T:p.Glu376Ter	coding	Pathogenic
4	54725605	G	C	G54725605C	KIT	NM_000222.3(KIT):c.1347-252G>C	noncoding	Benign
4	54725650	C	T	C54725650T	KIT	NM_000222.3(KIT):c.1347-207C>T	noncoding	Benign
4	54725992	C	A	C54725992A	KIT	NM_000222.3(KIT):c.1482C>A:p.Tyr494Ter	coding	Pathogenic
4	54726132	A	G	A54726132G	KIT	NM_000222.3(KIT):c.1540+82A>G	noncoding	Benign
4	54726159	T	C	T54726159C	KIT	NM_000222.3(KIT):c.1540+109T>C	noncoding	Benign
4	54727434	C	T	C54727434T	KIT	NM_000222.3(KIT):c.1666C>T:p.Gln556Ter	coding	Pathogenic
4	54727495	T	C	T54727495C	KIT	NM_000222.3(KIT):c.1727T>C:p.Leu576Pro	coding	Pathogenic/Likely_pathogenic
4	54727699	G	A	G54727699A	KIT	NM_000222.3(KIT):c.1775-124G>A	noncoding	Benign
4	54729185	T	C	T54729185C	KIT	NM_000222.3(KIT):c.1991-150T>C	noncoding	Benign
4	54729424	C	T	C54729424T	KIT	NM_000222.3(KIT):c.2080C>T:p.Gln694Ter	coding	Pathogenic
4	54732737	A	T	A54732737T	KIT	NM_000222.3(KIT):c.2362-333A>T	noncoding	Benign
4	54732963	T	A	T54732963A	KIT	NM_000222.3(KIT):c.2362-107T>A	noncoding	Benign
4	54732993	G	A	G54732993A	KIT	NM_000222.3(KIT):c.2362-77G>A	noncoding	Benign
4	54733270	T	C	T54733270C	KIT	NM_000222.3(KIT):c.2484+78T>C	noncoding	Benign
4	54733490	A	G	A54733490G	KIT	NM_000222.3(KIT):c.2484+298A>G	noncoding	Benign
4	54736285	C	T	C54736285T	KIT	NM_000222.3(KIT):c.2485-213C>T	noncoding	Benign
4	54737051	A	G	A54737051G	KIT	NM_000222.3(KIT):c.2697-124A>G	noncoding	Benign
4	54738090	A	G	A54738090G	KIT	NM_000222.3(KIT):c.2803-339A>G	noncoding	Benign
4	54738774	G	A	G54738774A	KIT	NM_000222.3(KIT):c.*217G>A	noncoding	Benign/Likely_benign
4	55359186	G	A	G55359186A	SRD5A3	NM_024592.5(SRD5A3):c.222-160G>A	noncoding	Benign
4	55359403	C	A	C55359403A	SRD5A3	NM_024592.5(SRD5A3):c.279C>A:p.Cys93Ter	coding	Pathogenic
4	55359507	T	C	T55359507C	SRD5A3	NM_024592.5(SRD5A3):c.364+19T>C	noncoding	Benign/Likely_benign
4	55363854	G	A	G55363854A	SRD5A3	NM_024592.5(SRD5A3):c.365-220G>A	noncoding	Benign
4	55364368	G	A	G55364368A	SRD5A3	NM_024592.5(SRD5A3):c.562+97G>A	noncoding	Benign
4	55367385	T	G	T55367385G	SRD5A3	NM_024592.5(SRD5A3):c.563-203T>G	noncoding	Benign
4	55367723	G	C	G55367723C	SRD5A3	NM_024592.5(SRD5A3):c.697+1G>C	coding	Pathogenic
4	55367947	G	A	G55367947A	SRD5A3	NM_024592.5(SRD5A3):c.697+225G>A	noncoding	Benign
4	55395763	C	G	C55395763G	TMEM165	Single_allele	noncoding	Benign
4	55395772	G	A	G55395772A	TMEM165	Single_allele	noncoding	Benign
4	55395832	C	T	C55395832T	TMEM165	Single_allele	noncoding	Benign
4	55395855	G	A	G55395855A	TMEM165	Single_allele	noncoding	Benign
4	55396285	G	T	G55396285T	TMEM165	NM_018475.5(TMEM165):c.96G>T:p.Arg32=	coding	Benign
4	55396574	C	G	C55396574G	TMEM165	NM_018475.5(TMEM165):c.207+178C>G	noncoding	Benign
4	55424270	T	C	T55424270C	TMEM165	NM_018475.5(TMEM165):c.793-268T>C	noncoding	Benign
4	55424329	C	T	C55424329T	TMEM165	NM_018475.5(TMEM165):c.793-209C>T	noncoding	Benign
4	55424391	C	T	C55424391T	TMEM165	NM_018475.5(TMEM165):c.793-147C>T	noncoding	Benign
4	55424406	T	C	T55424406C	TMEM165	NM_018475.5(TMEM165):c.793-132T>C	noncoding	Benign
4	55424957	A	G	A55424957G	TMEM165	NM_018475.5(TMEM165):c.898+314A>G	noncoding	Benign
4	55425312	C	T	C55425312T	TMEM165	NM_018475.5(TMEM165):c.899-64C>T	noncoding	Benign
4	55954045	T	G	T55954045G	CEP135	NM_025009.5(CEP135):c.305-171T>G	noncoding	Benign
4	55954064	T	C	T55954064C	CEP135	NM_025009.5(CEP135):c.305-152T>C	noncoding	Benign
4	55954401	C	T	C55954401T	CEP135	NM_025009.5(CEP135):c.472+18C>T	noncoding	Benign/Likely_benign
4	55954604	A	G	A55954604G	CEP135	NM_025009.5(CEP135):c.472+221A>G	noncoding	Benign
4	55957211	C	T	C55957211T	CEP135	NM_025009.5(CEP135):c.473-12C>T	noncoding	Benign/Likely_benign
4	55959703	A	C	A55959703C	CEP135	NM_025009.5(CEP135):c.636A>C:p.Glu212Asp	coding	Benign/Likely_benign
4	55964439	A	G	A55964439G	CEP135	NM_025009.5(CEP135):c.828+37A>G	noncoding	Benign
4	55965755	A	T	A55965755T	CEP135	NM_025009.5(CEP135):c.940A>T:p.Lys314Ter	coding	Pathogenic
4	55966007	C	T	C55966007T	CEP135	NM_025009.5(CEP135):c.1044+148C>T	noncoding	Benign
4	55968938	T	A	T55968938A	CEP135	NM_025009.5(CEP135):c.1045-125T>A	noncoding	Benign
4	55968948	G	T	G55968948T	CEP135	NM_025009.5(CEP135):c.1045-115G>T	noncoding	Benign
4	55969143	T	C	T55969143C	CEP135	NM_025009.5(CEP135):c.1110+15T>C	noncoding	Benign
4	55969247	C	T	C55969247T	CEP135	NM_025009.5(CEP135):c.1110+119C>T	noncoding	Benign
4	55971291	G	T	G55971291T	CEP135	NM_025009.5(CEP135):c.1132G>T:p.Glu378Ter	coding	Pathogenic
4	55974509	C	T	C55974509T	CEP135	NM_025009.5(CEP135):c.1250-237C>T	noncoding	Benign
4	55974584	T	C	T55974584C	CEP135	NM_025009.5(CEP135):c.1250-162T>C	noncoding	Benign
4	55974680	A	G	A55974680G	CEP135	NM_025009.5(CEP135):c.1250-66A>G	noncoding	Benign
4	55975049	C	T	C55975049T	CEP135	NM_025009.5(CEP135):c.1473+80C>T	noncoding	Benign
4	55980585	A	C	A55980585C	CEP135	NM_025009.5(CEP135):c.1626+290A>C	noncoding	Benign
4	55984982	G	C	G55984982C	CEP135	NM_025009.5(CEP135):c.1780-299G>C	noncoding	Benign
4	55985061	A	T	A55985061T	CEP135	NM_025009.5(CEP135):c.1780-220A>T	noncoding	Benign
4	55991841	G	C	G55991841C	CEP135	NM_025009.5(CEP135):c.1858-93G>C	noncoding	Benign
4	55992284	A	G	A55992284G	CEP135	NM_025009.5(CEP135):c.2009+199A>G	noncoding	Benign
4	55998971	C	A	C55998971A	CEP135	NM_025009.5(CEP135):c.2010-331C>A	noncoding	Benign
4	55999194	C	A	C55999194A	CEP135	NM_025009.5(CEP135):c.2010-108C>A	noncoding	Benign
4	56008076	G	A	G56008076A	CEP135	NM_025009.5(CEP135):c.2281-251G>A	noncoding	Benign
4	56009663	A	G	A56009663G	CEP135	NM_025009.5(CEP135):c.2337-72A>G	noncoding	Benign
4	56010075	C	T	C56010075T	CEP135	NM_025009.5(CEP135):c.2505+172C>T	noncoding	Benign
4	56011559	G	T	G56011559T	CEP135	NM_025009.5(CEP135):c.2616+37G>T	noncoding	Benign
4	56012027	A	G	A56012027G	CEP135	NM_025009.5(CEP135):c.2802+42A>G	noncoding	Benign
4	56017708	C	T	C56017708T	CEP135	NM_025009.5(CEP135):c.2863C>T:p.Arg955Ter	coding	Pathogenic
4	56017821	C	G	C56017821G	CEP135	NM_025009.5(CEP135):c.2976C>G:p.Thr992=	coding	Benign
4	56017913	T	C	T56017913C	CEP135	NM_025009.5(CEP135):c.3012+56T>C	noncoding	Benign
4	56019082	C	A	C56019082A	CEP135	NM_025009.5(CEP135):c.3013-271C>A	noncoding	Benign
4	56019415	T	C	T56019415C	CEP135	NM_025009.5(CEP135):c.3075T>C:p.Asn1025=	coding	Benign
4	56019551	A	T	A56019551T	CEP135	NM_025009.5(CEP135):c.3211A>T:p.Lys1071Ter	coding	Pathogenic
4	56019570	T	C	T56019570C	CEP135	NM_025009.5(CEP135):c.3215+15T>C	noncoding	Benign
4	56019720	G	C	G56019720C	CEP135	NM_025009.5(CEP135):c.3215+165G>C	noncoding	Benign
4	56019845	G	A	G56019845A	CEP135	NM_025009.5(CEP135):c.3215+290G>A	noncoding	Benign
4	56020976	G	A	G56020976A	CEP135	NM_025009.5(CEP135):c.3320+196G>A	noncoding	Benign
4	56021028	A	C	A56021028C	CEP135	NM_025009.5(CEP135):c.3320+248A>C	noncoding	Benign
4	56024764	A	G	A56024764G	CEP135	NM_025009.5(CEP135):c.*11+150A>G	noncoding	Benign
4	56384119	T	C	T56384119C	AASDH	NM_181806.4(AASDH):c.181A>G:p.Ile61Val	coding	Benign
4	56441804	A	G	A56441804G	PAICS	NM_001079524.2(PAICS):c.158A>G:p.Lys53Arg	coding	Pathogenic
4	56467815	G	A	G56467815A	SRP72	NM_006947.4(SRP72):c.109+71G>A	noncoding	Benign
4	56467946	C	G	C56467946G	SRP72	NM_006947.4(SRP72):c.109+202C>G	noncoding	Benign
4	56467976	C	G	C56467976G	SRP72	NM_006947.4(SRP72):c.109+232C>G	noncoding	Benign
4	56471447	G	T	G56471447T	SRP72	NM_006947.4(SRP72):c.231-273G>T	noncoding	Benign
4	56472022	A	G	A56472022G	SRP72	NM_006947.4(SRP72):c.354+179A>G	noncoding	Benign
4	56473943	T	C	T56473943C	SRP72	NM_006947.4(SRP72):c.355-111T>C	noncoding	Benign
4	56474263	A	G	A56474263G	SRP72	NM_006947.4(SRP72):c.499-17A>G	noncoding	Benign
4	56474409	C	T	C56474409T	SRP72	NM_006947.4(SRP72):c.610+18C>T	noncoding	Benign
4	56474426	C	T	C56474426T	SRP72	NM_006947.4(SRP72):c.610+35C>T	noncoding	Benign
4	56474538	C	T	C56474538T	SRP72	NM_006947.4(SRP72):c.610+147C>T	noncoding	Benign
4	56476469	C	A	C56476469A	SRP72	NM_006947.4(SRP72):c.611-202C>A	noncoding	Benign
4	56478086	A	T	A56478086T	SRP72	NM_006947.4(SRP72):c.643-293A>T	noncoding	Benign
4	56478155	T	A	T56478155A	SRP72	NM_006947.4(SRP72):c.643-224T>A	noncoding	Benign
4	56478572	C	T	C56478572T	SRP72	NM_006947.4(SRP72):c.768-20C>T	noncoding	Benign/Likely_benign
4	56478853	G	C	G56478853C	SRP72	NM_006947.4(SRP72):c.825+204G>C	noncoding	Benign
4	56483116	A	G	A56483116G	SRP72	NM_006947.4(SRP72):c.826-23A>G	noncoding	Benign
4	56483240	C	T	C56483240T	SRP72	NM_006947.4(SRP72):c.927C>T:p.Asn309=	coding	Benign
4	56484597	A	G	A56484597G	SRP72	NM_006947.4(SRP72):c.958-139A>G	noncoding	Benign
4	56484923	T	C	T56484923C	SRP72	NM_006947.4(SRP72):c.1086+59T>C	noncoding	Benign
4	56486153	A	G	A56486153G	SRP72	NM_006947.4(SRP72):c.1087-172A>G	noncoding	Benign
4	56487736	A	G	A56487736G	SRP72	NM_006947.4(SRP72):c.1160-213A>G	noncoding	Benign
4	56487959	T	C	T56487959C	SRP72	NM_006947.4(SRP72):c.1170T>C:p.Ser390=	coding	Benign/Likely_benign
4	56488302	C	T	C56488302T	SRP72	NM_006947.4(SRP72):c.1224+289C>T	noncoding	Benign
4	56489096	T	C	T56489096C	SRP72	NM_006947.4(SRP72):c.1225-292T>C	noncoding	Benign
4	56489206	C	T	C56489206T	SRP72	NM_006947.4(SRP72):c.1225-182C>T	noncoding	Benign
4	56489988	G	T	G56489988T	SRP72	NM_006947.4(SRP72):c.1321-345G>T	noncoding	Benign
4	56490170	C	G	C56490170G	SRP72	NM_006947.4(SRP72):c.1321-163C>G	noncoding	Benign
4	56490231	C	G	C56490231G	SRP72	NM_006947.4(SRP72):c.1321-102C>G	noncoding	Benign
4	56490806	C	T	C56490806T	SRP72	NM_006947.4(SRP72):c.1502+161C>T	noncoding	Benign
4	56491545	A	T	A56491545T	SRP72	NM_006947.4(SRP72):c.1617A>T:p.Gly539=	coding	Benign
4	56491656	A	G	A56491656G	SRP72	NM_006947.4(SRP72):c.1640+88A>G	noncoding	Benign
4	56495311	A	C	A56495311C	SRP72	NM_006947.4(SRP72):c.1641-46A>C	noncoding	Benign
4	56495461	A	C	A56495461C	SRP72	NM_006947.4(SRP72):c.1678+67A>C	noncoding	Benign
4	56500400	T	G	T56500400G	SRP72	NM_006947.4(SRP72):c.1679-136T>G	noncoding	Benign
4	56500714	A	G	A56500714G	SRP72	NM_006947.4(SRP72):c.1838+19A>G	noncoding	Benign/Likely_benign
4	56501639	C	T	C56501639T	SRP72	NM_006947.4(SRP72):c.1839-45C>T	noncoding	Benign
4	56501643	G	A	G56501643A	SRP72	NM_006947.4(SRP72):c.1839-41G>A	noncoding	Benign
4	56910349	G	A	G56910349A	REST	NM_005612.5(REST):c.-9-281G>A	noncoding	Benign
4	56910872	G	T	G56910872T	REST	NM_005612.5(REST):c.234G>T:p.Pro78=	coding	Benign
4	56910912	G	T	G56910912T	REST	NM_005612.5(REST):c.274G>T:p.Gly92Ter	coding	Pathogenic
4	56910932	T	A	T56910932A	REST	NM_005612.5(REST):c.294T>A:p.Asp98Glu	coding	Benign
4	56911133	A	G	A56911133G	REST	NM_005612.5(REST):c.495A>G:p.Gln165=	coding	Benign
4	56911250	C	T	C56911250T	REST	NM_005612.5(REST):c.612C>T:p.Ser204=	coding	Benign
4	56911551	C	T	C56911551T	REST	NM_005612.5(REST):c.898+15C>T	noncoding	Benign
4	56911654	A	T	A56911654T	REST	NM_005612.5(REST):c.898+118A>T	noncoding	Benign
4	56911779	C	T	C56911779T	REST	NM_005612.5(REST):c.898+243C>T	noncoding	Benign
4	56919620	A	T	A56919620T	REST	NM_005612.5(REST):c.899-167A>T	noncoding	Benign
4	56919775	G	A	G56919775A	REST	NM_005612.5(REST):c.899-12G>A	noncoding	Benign
4	56927585	G	A	G56927585A	REST	NM_005612.5(REST):c.983-2256G>A	noncoding	Benign
4	56927594	C	G	C56927594G	REST	NM_005612.5(REST):c.983-2247C>G	noncoding	Pathogenic
4	56927771	A	G	A56927771G	REST	NM_005612.5(REST):c.983-2070A>G	noncoding	Benign
4	56929953	C	T	C56929953T	REST	NM_005612.5(REST):c.1095C>T:p.His365=	coding	Benign
4	56930102	G	C	G56930102C	REST	NM_005612.5(REST):c.1244G>C:p.Cys415Ser	coding	Pathogenic
4	56930733	C	T	C56930733T	REST	NM_005612.5(REST):c.1875C>T:p.Pro625=	coding	Benign
4	56930734	G	A	G56930734A	REST	NM_005612.5(REST):c.1876G>A:p.Val626Ile	coding	Benign
4	56930871	G	T	G56930871T	REST	NM_005612.5(REST):c.2013G>T:p.Glu671Asp	coding	Benign
4	56930934	G	T	G56930934T	REST	NM_005612.5(REST):c.2076G>T:p.Glu692Asp	coding	Benign
4	56931013	G	C	G56931013C	REST	NM_005612.5(REST):c.2155G>C:p.Ala719Pro	coding	Benign
4	56931087	G	A	G56931087A	REST	NM_005612.5(REST):c.2229G>A:p.Glu743=	coding	Benign
4	56931094	C	A	C56931094A	REST	NM_005612.5(REST):c.2236C>A:p.Gln746Lys	coding	Benign/Likely_benign
4	56931142	A	C	A56931142C	REST	NM_005612.5(REST):c.2284A>C:p.Lys762Gln	coding	Benign
4	56931184	C	G	C56931184G	REST	NM_005612.5(REST):c.2326C>G:p.Pro776Ala	coding	Benign/Likely_benign
4	56931248	C	T	C56931248T	REST	NM_005612.5(REST):c.2390C>T:p.Pro797Leu	coding	Benign
4	56931301	C	T	C56931301T	REST	NM_005612.5(REST):c.2443C>T:p.Pro815Ser	coding	Benign/Likely_benign
4	56931307	C	T	C56931307T	REST	NM_005612.5(REST):c.2449C>T:p.Arg817Ter	coding	Pathogenic
4	56931315	T	C	T56931315C	REST	NM_005612.5(REST):c.2457T>C:p.Asp819=	coding	Benign
4	56931511	A	G	A56931511G	REST	NM_005612.5(REST):c.2653A>G:p.Thr885Ala	coding	Benign
4	56931816	C	A	C56931816A	REST	NM_005612.5(REST):c.2958C>A:p.Ser986=	coding	Benign
4	56931894	C	T	C56931894T	REST	NM_005612.5(REST):c.3036C>T:p.His1012=	coding	Benign
4	56931978	A	G	A56931978G	REST	NM_005612.5(REST):c.3120A>G:p.Gln1040=	coding	Benign
4	56932008	C	G	C56932008G	REST	NM_005612.5(REST):c.3150C>G:p.Ala1050=	coding	Benign
4	56932014	A	T	A56932014T	REST	NM_005612.5(REST):c.3156A>T:p.Ala1052=	coding	Benign
4	56932023	G	A	G56932023A	REST	NM_005612.5(REST):c.3165G>A:p.Ala1055=	coding	Benign
4	56932029	G	A	G56932029A	REST	NM_005612.5(REST):c.3171G>A:p.Lys1057=	coding	Benign
4	56932303	A	G	A56932303G	REST	NM_005612.5(REST):c.*151A>G	noncoding	Benign
4	56932444	T	A	T56932444A	REST	NM_005612.5(REST):c.*292T>A	noncoding	Benign
4	57032426	C	T	C57032426T	IGFBP7	NM_001553.3(IGFBP7):c.829G>A:p.Gly277Ser	coding	Pathogenic
4	57040820	A	T	A57040820T	IGFBP7	NM_001553.3(IGFBP7):c.585+4T>A	noncoding	Benign
4	64279745	G	T	G64279745T	TECRL	NM_001010874.5(TECRL):c.*327C>A	noncoding	Benign
4	64280237	T	G	T64280237G	TECRL	NM_001010874.5(TECRL):c.965-38A>C	noncoding	Benign
4	64280982	A	G	A64280982G	TECRL	NM_001010874.5(TECRL):c.964+59T>C	noncoding	Benign
4	64280993	T	C	T64280993C	TECRL	NM_001010874.5(TECRL):c.964+48A>G	noncoding	Benign
4	64281260	T	A	T64281260A	TECRL	NM_001010874.5(TECRL):c.919-174A>T	noncoding	Benign
4	64281686	T	C	T64281686C	TECRL	NM_001010874.5(TECRL):c.833-127A>G	noncoding	Benign
4	64299680	G	A	G64299680A	TECRL	NM_001010874.5(TECRL):c.774+294C>T	noncoding	Benign
4	64299943	G	A	G64299943A	TECRL	NM_001010874.5(TECRL):c.774+31C>T	noncoding	Benign
4	64300012	C	A	C64300012A	TECRL	NM_001010874.5(TECRL):c.736G>T:p.Gly246Ter	coding	Pathogenic
4	64300131	G	A	G64300131A	TECRL	NM_001010874.5(TECRL):c.731-114C>T	noncoding	Benign
4	64300191	T	A	T64300191A	TECRL	NM_001010874.5(TECRL):c.731-174A>T	noncoding	Benign
4	64305221	C	T	C64305221T	TECRL	NM_001010874.5(TECRL):c.675G>A:p.Trp225Ter	coding	Pathogenic
4	64309867	T	A	T64309867A	TECRL	NM_001010874.5(TECRL):c.616A>T:p.Lys206Ter	coding	Pathogenic
4	64309897	G	A	G64309897A	TECRL	NM_001010874.5(TECRL):c.586C>T:p.Arg196Ter	coding	Pathogenic
4	64314390	T	A	T64314390A	TECRL	NM_001010874.5(TECRL):c.551+258A>T	noncoding	Benign
4	64314512	T	C	T64314512C	TECRL	NM_001010874.5(TECRL):c.551+136A>G	noncoding	Benign
4	64315043	C	T	C64315043T	TECRL	NM_001010874.5(TECRL):c.436-280G>A	noncoding	Benign
4	64323064	T	C	T64323064C	TECRL	NM_001010874.5(TECRL):c.332-272A>G	noncoding	Benign
4	64375032	T	A	T64375032A	TECRL	NM_001010874.5(TECRL):c.286+140A>T	noncoding	Benign
4	64375087	A	T	A64375087T	TECRL	NM_001010874.5(TECRL):c.286+85T>A	noncoding	Benign
4	64375089	A	T	A64375089T	TECRL	NM_001010874.5(TECRL):c.286+83T>A	noncoding	Benign
4	64375104	A	G	A64375104G	TECRL	NM_001010874.5(TECRL):c.286+68T>C	noncoding	Benign
4	64375249	A	T	A64375249T	TECRL	NM_001010874.5(TECRL):c.235-26T>A	noncoding	Benign
4	64375382	T	G	T64375382G	TECRL	NM_001010874.5(TECRL):c.235-159A>C	noncoding	Benign
4	64409150	G	A	G64409150A	TECRL	NM_001010874.5(TECRL):c.202C>T:p.Gln68Ter	coding	Pathogenic
4	64409219	G	A	G64409219A	TECRL	NM_001010874.5(TECRL):c.133C>T:p.Pro45Ser	coding	Benign
4	67558935	T	C	T67558935C	STAP1	NM_012108.4(STAP1):c.120+6T>C	noncoding	Benign
4	67571165	T	C	T67571165C	STAP1	NM_012108.4(STAP1):c.192+10T>C	noncoding	Benign
4	67571415	T	G	T67571415G	STAP1	NM_012108.4(STAP1):c.192+260T>G	noncoding	Benign
4	67575215	G	C	G67575215C	STAP1	NM_012108.4(STAP1):c.193-170G>C	noncoding	Benign
4	67575373	T	C	T67575373C	STAP1	NM_012108.4(STAP1):c.193-12T>C	noncoding	Benign
4	67577036	C	T	C67577036T	STAP1	NM_012108.4(STAP1):c.307-167C>T	noncoding	Benign
4	67577250	A	G	A67577250G	STAP1	NM_012108.4(STAP1):c.354A>G:p.Thr118=	coding	Benign
4	67581322	C	T	C67581322T	STAP1	NM_012108.4(STAP1):c.381C>T:p.Asn127=	coding	Benign
4	67581482	A	G	A67581482G	STAP1	NM_012108.4(STAP1):c.530+11A>G	noncoding	Benign
4	67581531	A	G	A67581531G	STAP1	NM_012108.4(STAP1):c.530+60A>G	noncoding	Benign
4	67581634	A	G	A67581634G	STAP1	NM_012108.4(STAP1):c.530+163A>G	noncoding	Benign
4	67581716	T	G	T67581716G	STAP1	NM_012108.4(STAP1):c.530+245T>G	noncoding	Benign
4	67593090	G	A	G67593090A	STAP1	NM_012108.4(STAP1):c.730-170G>A	noncoding	Benign
4	67593219	G	C	G67593219C	STAP1	NM_012108.4(STAP1):c.730-41G>C	noncoding	Benign
4	67740631	C	T	C67740631T	GNRHR	NM_000406.3(GNRHR):c.836G>A:p.Cys279Tyr	coding	Pathogenic
4	67744533	G	A	G67744533A	GNRHR	NM_000406.3(GNRHR):c.742+35C>T	noncoding	Benign
4	67744551	C	T	C67744551T	GNRHR	NM_000406.3(GNRHR):c.742+17G>A	noncoding	Benign
4	67753921	G	A	G67753921A	GNRHR	NM_000406.3(GNRHR):c.415C>T:p.Arg139Cys	coding	Pathogenic
4	67753935	A	C	A67753935C	GNRHR	NM_000406.3(GNRHR):c.401T>G:p.Val134Gly	coding	Pathogenic
4	67754397	C	T	C67754397T	GNRHR	NM_000406.2(GNRHR):c.-62G>A	noncoding	Benign/Likely_benign
4	67755905	G	C	G67755905C	GNRHR	NM_000406.2(GNRHR):c.-1570C>G	noncoding	Benign/Likely_benign
4	68477569	A	G	A68477569G	TMPRSS11E	NM_014058.4(TMPRSS11E):c.908A>G:p.Tyr303Cys	coding	Benign
4	68568639	T	C	T68568639C	UGT2B17	NM_001077.4(UGT2B17):c.-64-91A>G	noncoding	Benign
4	70196539	C	T	C70196539T	ODAM	NM_017855.4(ODAM):c.-5C>T	noncoding	Benign
4	70196591	C	A	C70196591A	ODAM	NM_017855.4(ODAM):c.48C>A:p.Ala16=	coding	Benign
4	70606447	T	C	T70606447C	AMBN	NM_016519.6(AMBN):c.1061T>C:p.Leu354Pro	coding	Benign
4	70628965	G	A	G70628965A	ENAM	NM_031889.3(ENAM):c.-61+1G>A	noncoding	Pathogenic
4	70631370	A	C	A70631370C	ENAM	NM_031889.3(ENAM):c.55-300A>C	noncoding	Benign
4	70632586	G	A	G70632586A	ENAM	NM_031889.3(ENAM):c.169-65G>A	noncoding	Benign
4	70635957	A	G	A70635957G	ENAM	NM_031889.3(ENAM):c.534+63A>G	noncoding	Benign
4	70636027	T	C	T70636027C	ENAM	NM_031889.3(ENAM):c.534+133T>C	noncoding	Benign
4	70637479	G	T	G70637479T	ENAM	NM_031889.3(ENAM):c.535-311G>T	noncoding	Benign
4	70638069	A	C	A70638069C	ENAM	NM_031889.3(ENAM):c.588+226A>C	noncoding	Benign
4	70641750	A	G	A70641750G	ENAM	NM_031889.3(ENAM):c.589-265A>G	noncoding	Benign
4	71255137	C	A	C71255137A	SLC4A4	NM_001098484.3(SLC4A4):c.74-83C>A	noncoding	Benign
4	71255446	A	G	A71255446G	SLC4A4	NM_001098484.3(SLC4A4):c.253+47A>G	noncoding	Benign
4	71349866	A	G	A71349866G	SLC4A4	NM_001098484.3(SLC4A4):c.390-46A>G	noncoding	Benign
4	71440506	C	A	C71440506A	SLC4A4	NM_001098484.3(SLC4A4):c.808-110C>A	noncoding	Benign
4	71440843	A	T	A71440843T	SLC4A4	NM_001098484.3(SLC4A4):c.965+70A>T	noncoding	Benign
4	71440932	C	G	C71440932G	SLC4A4	NM_001098484.3(SLC4A4):c.965+159C>G	noncoding	Benign
4	71447513	A	T	A71447513T	SLC4A4	NM_001098484.3(SLC4A4):c.966-133A>T	noncoding	Benign
4	71451105	C	T	C71451105T	SLC4A4	NM_001098484.3(SLC4A4):c.1209-83C>T	noncoding	Benign
4	71451316	C	T	C71451316T	SLC4A4	NM_001098484.3(SLC4A4):c.1322+15C>T	noncoding	Benign
4	71466277	A	G	A71466277G	SLC4A4	NM_001098484.3(SLC4A4):c.1498-167A>G	noncoding	Benign
4	71466764	C	T	C71466764T	SLC4A4	NM_001098484.3(SLC4A4):c.1631+187C>T	noncoding	Benign
4	71486877	A	G	A71486877G	SLC4A4	NM_001098484.3(SLC4A4):c.1904-71A>G	noncoding	Benign
4	71486879	C	T	C71486879T	SLC4A4	NM_001098484.3(SLC4A4):c.1904-69C>T	noncoding	Benign
4	71497828	A	G	A71497828G	SLC4A4	NM_001098484.3(SLC4A4):c.2166+136A>G	noncoding	Benign
4	71531828	A	G	A71531828G	SLC4A4	NM_001098484.3(SLC4A4):c.2167-234A>G	noncoding	Benign
4	71531833	C	A	C71531833A	SLC4A4	NM_001098484.3(SLC4A4):c.2167-229C>A	noncoding	Benign
4	71531993	C	T	C71531993T	SLC4A4	NM_001098484.3(SLC4A4):c.2167-69C>T	noncoding	Benign
4	71532247	T	C	T71532247C	SLC4A4	NM_001098484.3(SLC4A4):c.2280+72T>C	noncoding	Benign
4	71532367	G	T	G71532367T	SLC4A4	NM_001098484.3(SLC4A4):c.2280+192G>T	noncoding	Benign
4	71534525	G	T	G71534525T	SLC4A4	NM_001098484.3(SLC4A4):c.2442+137G>T	noncoding	Benign
4	71546250	A	G	A71546250G	SLC4A4	NM_001098484.3(SLC4A4):c.2443-100A>G	noncoding	Benign
4	71546312	G	A	G71546312A	SLC4A4	NM_001098484.3(SLC4A4):c.2443-38G>A	noncoding	Benign
4	71547564	T	C	T71547564C	SLC4A4	NM_001098484.3(SLC4A4):c.2622-84T>C	noncoding	Benign
4	71547597	C	G	C71547597G	SLC4A4	NM_001098484.3(SLC4A4):c.2622-51C>G	noncoding	Benign
4	71557907	C	T	C71557907T	SLC4A4	NM_001098484.3(SLC4A4):c.2937+22C>T	noncoding	Benign
4	71560146	C	T	C71560146T	SLC4A4	NM_001098484.3(SLC4A4):c.2991C>T:p.His997=	coding	Benign
4	71560269	A	G	A71560269G	SLC4A4	NM_001098484.3(SLC4A4):c.3099+15A>G	noncoding	Benign
4	71563654	G	A	G71563654A	SLC4A4	NM_001098484.3(SLC4A4):c.3100-139G>A	noncoding	Benign
4	71563692	A	G	A71563692G	SLC4A4	NM_001098484.3(SLC4A4):c.3100-101A>G	noncoding	Benign
4	71563716	G	A	G71563716A	SLC4A4	NM_001098484.3(SLC4A4):c.3100-77G>A	noncoding	Benign
4	71563735	G	A	G71563735A	SLC4A4	NM_001098484.3(SLC4A4):c.3100-58G>A	noncoding	Benign
4	71566813	A	C	A71566813C	SLC4A4	NM_001098484.3(SLC4A4):c.3197-191A>C	noncoding	Benign
4	71567274	A	C	A71567274C	SLC4A4	NM_001098484.3(SLC4A4):c.*36+191A>C	noncoding	Benign
4	71567583	T	G	T71567583G	SLC4A4	NM_001098484.3(SLC4A4):c.*37-205T>G	noncoding	Benign
4	72309376	C	T	C72309376T	ADAMTS3	NM_014243.3(ADAMTS3):c.2179+21G>A	noncoding	Benign
4	72548569	C	T	C72548569T	ADAMTS3	NM_014243.3(ADAMTS3):c.413G>A:p.Arg138Lys	coding	Benign
4	73142769	T	G	T73142769G	ANKRD17	NM_032217.5(ANKRD17):c.1958-2A>C	noncoding	Pathogenic
4	73406657	C	T	C73406657T	ALB	NM_000477.7(ALB):c.166C>T:p.Gln56Ter	coding	Pathogenic
4	73406760	T	C	T73406760C	ALB	NM_000477.7(ALB):c.269T>C:p.Leu90Pro	coding	Pathogenic
4	73411996	G	A	G73411996A	ALB	NM_000477.7(ALB):c.714G>A:p.Trp238Ter	coding	Pathogenic
4	73412007	G	C	G73412007C	ALB	NM_000477.7(ALB):c.725G>C:p.Arg242Pro	coding	Pathogenic
4	73417555	A	G	A73417555G	ALB	NM_000477.7(ALB):c.1314A>G:p.Lys438=	coding	Benign
4	73418312	G	A	G73418312A	ALB	NM_000477.7(ALB):c.1652+1G>A	coding	Pathogenic
4	75555738	A	G	A75555738G	ODAPH	Single_allele	noncoding	Benign
4	75555841	T	C	T75555841C	ODAPH	Single_allele	noncoding	Benign
4	75556287	A	G	A75556287G	ODAPH	NM_178497.5(ODAPH):c.67+138A>G	noncoding	Benign
4	75556365	A	C	A75556365C	ODAPH	NM_178497.5(ODAPH):c.67+216A>C	noncoding	Benign
4	75556418	A	C	A75556418C	ODAPH	NM_178497.5(ODAPH):c.67+269A>C	noncoding	Benign
4	75564372	G	A	G75564372A	ODAPH	NM_178497.5(ODAPH):c.326G>A:p.Arg109His	coding	Benign
4	76161596	C	T	C76161596T	SCARB2	NM_005506.4(SCARB2):c.*117G>A	noncoding	Benign
4	76161646	G	C	G76161646C	SCARB2	NM_005506.4(SCARB2):c.*67C>G	noncoding	Benign
4	76161929	A	T	A76161929T	SCARB2	NM_005506.4(SCARB2):c.1399-178T>A	noncoding	Benign
4	76163238	C	T	C76163238T	SCARB2	NM_005506.4(SCARB2):c.1385G>A:p.Gly462Glu	coding	Benign/Likely_benign
4	76163436	T	C	T76163436C	SCARB2	NM_005506.4(SCARB2):c.1240-53A>G	noncoding	Benign
4	76166551	G	T	G76166551T	SCARB2	NM_005506.4(SCARB2):c.1188-250C>A	noncoding	Benign
4	76168158	G	C	G76168158C	SCARB2	NM_005506.4(SCARB2):c.1187+245C>G	noncoding	Benign
4	76168322	G	C	G76168322C	SCARB2	NM_005506.4(SCARB2):c.1187+81C>G	noncoding	Benign
4	76173990	A	G	A76173990G	SCARB2	NM_005506.4(SCARB2):c.994+154T>C	noncoding	Benign
4	76174062	C	T	C76174062T	SCARB2	NM_005506.4(SCARB2):c.994+82G>A	noncoding	Benign
4	76174096	C	G	C76174096G	SCARB2	NM_005506.4(SCARB2):c.994+48G>C	noncoding	Benign
4	76174118	A	G	A76174118G	SCARB2	NM_005506.4(SCARB2):c.994+26T>C	noncoding	Benign
4	76174421	C	T	C76174421T	SCARB2	NM_005506.4(SCARB2):c.825-108G>A	noncoding	Benign
4	76174436	G	A	G76174436A	SCARB2	NM_005506.4(SCARB2):c.825-123C>T	noncoding	Benign
4	76175533	G	A	G76175533A	SCARB2	NM_005506.4(SCARB2):c.824+258C>T	noncoding	Benign
4	76175624	T	C	T76175624C	SCARB2	NM_005506.4(SCARB2):c.824+167A>G	noncoding	Benign
4	76175690	C	T	C76175690T	SCARB2	NM_005506.4(SCARB2):c.824+101G>A	noncoding	Benign
4	76175984	T	C	T76175984C	SCARB2	NM_005506.4(SCARB2):c.705-74A>G	noncoding	Benign
4	76176036	C	T	C76176036T	SCARB2	NM_005506.4(SCARB2):c.705-126G>A	noncoding	Benign
4	76176605	T	C	T76176605C	SCARB2	NM_005506.4(SCARB2):c.613-77A>G	noncoding	Benign
4	76179748	A	G	A76179748G	SCARB2	NM_005506.4(SCARB2):c.424-43T>C	noncoding	Benign
4	76180705	C	T	C76180705T	SCARB2	NM_005506.4(SCARB2):c.423+249G>A	noncoding	Benign
4	76180819	G	A	G76180819A	SCARB2	NM_005506.4(SCARB2):c.423+135C>T	noncoding	Benign
4	76180853	C	G	C76180853G	SCARB2	NM_005506.4(SCARB2):c.423+101G>C	noncoding	Benign
4	76195575	G	A	G76195575A	SCARB2	NM_005506.4(SCARB2):c.275+132C>T	noncoding	Benign
4	76195687	A	G	A76195687G	SCARB2	NM_005506.4(SCARB2):c.275+20T>C	noncoding	Benign/Likely_benign
4	76195700	G	A	G76195700A	SCARB2	NM_005506.4(SCARB2):c.275+7C>T	noncoding	Benign
4	76213511	C	A	C76213511A	SCARB2	NM_005506.4(SCARB2):c.33G>T:p.Thr11=	coding	Benign/Likely_benign
4	76435093	C	T	C76435093T	SHROOM3	Single_allele	noncoding	Benign
4	76436339	C	A	C76436339A	SHROOM3	NM_020859.4(SHROOM3):c.168+119C>A	noncoding	Benign
4	76436345	G	T	G76436345T	SHROOM3	NM_020859.4(SHROOM3):c.168+125G>T	noncoding	Benign
4	76436375	G	T	G76436375T	SHROOM3	NM_020859.4(SHROOM3):c.168+155G>T	noncoding	Benign
4	76436439	T	C	T76436439C	SHROOM3	NM_020859.4(SHROOM3):c.168+219T>C	noncoding	Benign
4	76447694	G	A	G76447694A	SHROOM3	NM_020859.4(SHROOM3):c.168+11474G>A	noncoding	Benign
4	76555619	G	T	G76555619T	SHROOM3	NM_020859.4(SHROOM3):c.179G>T:p.Gly60Val	coding	Benign
4	76710272	T	A	T76710272A	SHROOM3	NM_020859.4(SHROOM3):c.440T>A:p.Leu147His	coding	Benign
4	76731066	T	C	T76731066C	SHROOM3	NM_020859.4(SHROOM3):c.587+131T>C	noncoding	Benign
4	76742109	T	C	T76742109C	SHROOM3	NM_020859.4(SHROOM3):c.3753+183T>C	noncoding	Benign
4	76754047	C	T	C76754047T	SHROOM3	NM_020859.4(SHROOM3):c.3828-264C>T	noncoding	Benign
4	76754352	C	T	C76754352T	SHROOM3	NM_020859.4(SHROOM3):c.3869C>T:p.Pro1290Leu	coding	Benign
4	76756405	T	C	T76756405C	SHROOM3	NM_020859.4(SHROOM3):c.4710-44T>C	noncoding	Benign
4	76757190	C	T	C76757190T	SHROOM3	NM_020859.4(SHROOM3):c.5198+253C>T	noncoding	Benign
4	76778637	T	C	T76778637C	SHROOM3	NM_020859.4(SHROOM3):c.5623-172T>C	noncoding	Benign
4	78255207	T	C	T78255207C	FRAS1	NM_025074.7(FRAS1):c.470-35T>C	noncoding	Benign
4	78255319	A	T	A78255319T	FRAS1	NM_025074.7(FRAS1):c.547A>T:p.Arg183Ter	coding	Pathogenic
4	78255394	G	A	G78255394A	FRAS1	NM_025074.7(FRAS1):c.603+19G>A	noncoding	Benign
4	78265128	A	G	A78265128G	FRAS1	NM_025074.7(FRAS1):c.687+20A>G	noncoding	Benign
4	78267221	C	T	C78267221T	FRAS1	NM_025074.7(FRAS1):c.790-20C>T	noncoding	Benign
4	78267330	C	G	C78267330G	FRAS1	NM_025074.7(FRAS1):c.879C>G:p.Tyr293Ter	coding	Pathogenic
4	78267385	C	T	C78267385T	FRAS1	NM_025074.7(FRAS1):c.934C>T:p.Gln312Ter	coding	Pathogenic
4	78282808	T	G	T78282808G	FRAS1	NM_025074.7(FRAS1):c.1108-12T>G	noncoding	Benign
4	78282888	C	G	C78282888G	FRAS1	NM_025074.7(FRAS1):c.1176C>G:p.Tyr392Ter	coding	Pathogenic
4	78286558	A	G	A78286558G	FRAS1	NM_025074.7(FRAS1):c.1534+19A>G	noncoding	Benign
4	78317357	C	G	C78317357G	FRAS1	NM_025074.7(FRAS1):c.1820-11C>G	noncoding	Benign/Likely_benign
4	78363660	G	T	G78363660T	FRAS1	NM_025074.7(FRAS1):c.2570G>T:p.Cys857Phe	coding	Pathogenic
4	78363685	A	C	A78363685C	FRAS1	NM_025074.7(FRAS1):c.2575+20A>C	noncoding	Benign/Likely_benign
4	78372806	C	A	C78372806A	FRAS1	NM_025074.7(FRAS1):c.2958C>A:p.Ala986=	coding	Benign
4	78379724	A	T	A78379724T	FRAS1	NM_025074.7(FRAS1):c.3293-2A>T	noncoding	Pathogenic
4	78400714	G	A	G78400714A	FRAS1	NM_025074.7(FRAS1):c.3976-20G>A	noncoding	Benign
4	78407792	G	A	G78407792A	FRAS1	NM_025074.7(FRAS1):c.4259G>A:p.Trp1420Ter	coding	Pathogenic
4	78429217	A	G	A78429217G	FRAS1	NM_025074.7(FRAS1):c.4834A>G:p.Thr1612Ala	coding	Benign
4	78430436	A	T	A78430436T	FRAS1	NM_025074.7(FRAS1):c.4969+19A>T	noncoding	Benign
4	78438626	T	C	T78438626C	FRAS1	NM_025074.7(FRAS1):c.5274T>C:p.Tyr1758=	coding	Benign
4	78441315	A	T	A78441315T	FRAS1	NM_025074.7(FRAS1):c.5665+18A>T	noncoding	Benign/Likely_benign
4	78448244	A	T	A78448244T	FRAS1	NM_025074.7(FRAS1):c.6202A>T:p.Lys2068Ter	coding	Pathogenic
4	78450309	C	T	C78450309T	FRAS1	NM_025074.7(FRAS1):c.6433C>T:p.Arg2145Ter	coding	Pathogenic
4	78464062	C	T	C78464062T	FRAS1	NM_025074.7(FRAS1):c.6805C>T:p.Arg2269Ter	coding	Pathogenic
4	78475502	C	T	C78475502T	FRAS1	NM_025074.7(FRAS1):c.7747C>T:p.Gln2583Ter	coding	Pathogenic
4	78481846	C	A	C78481846A	FRAS1	NM_025074.7(FRAS1):c.8486C>A:p.Ser2829Tyr	coding	Benign/Likely_benign
4	78519313	A	T	A78519313T	FRAS1	NM_025074.7(FRAS1):c.10390-18A>T	noncoding	Benign
4	78522620	T	A	T78522620A	FRAS1	NM_025074.7(FRAS1):c.10649-29T>A	noncoding	Benign
4	78522631	T	C	T78522631C	FRAS1	NM_025074.7(FRAS1):c.10649-18T>C	noncoding	Benign
4	78540780	C	T	C78540780T	FRAS1	NM_025074.7(FRAS1):c.11695C>T:p.Leu3899=	coding	Benign/Likely_benign
4	79907514	A	T	A79907514T	ANTXR2	NM_058172.6(ANTXR2):c.1429-47T>A	noncoding	Benign
4	79907586	T	A	T79907586A	ANTXR2	NM_058172.6(ANTXR2):c.1429-119A>T	noncoding	Benign
4	79983710	G	A	G79983710A	ANTXR2	NM_058172.6(ANTXR2):c.1179+168C>T	noncoding	Benign
4	79984586	T	C	T79984586C	ANTXR2	NM_058172.6(ANTXR2):c.1086+233A>G	noncoding	Benign
4	79984679	T	C	T79984679C	ANTXR2	NM_058172.6(ANTXR2):c.1086+140A>G	noncoding	Benign
4	79984697	A	C	A79984697C	ANTXR2	NM_058172.6(ANTXR2):c.1086+122T>G	noncoding	Benign
4	79984977	C	T	C79984977T	ANTXR2	NM_058172.6(ANTXR2):c.1042-114G>A	noncoding	Benign
4	79985030	G	A	G79985030A	ANTXR2	NM_058172.6(ANTXR2):c.1042-167C>T	noncoding	Benign
4	80018618	T	C	T80018618C	ANTXR2	NM_058172.6(ANTXR2):c.945+280A>G	noncoding	Benign
4	80018825	C	T	C80018825T	ANTXR2	NM_058172.6(ANTXR2):c.945+73G>A	noncoding	Benign
4	80031949	C	T	C80031949T	ANTXR2	NM_058172.6(ANTXR2):c.797-257G>A	noncoding	Benign
4	80054218	A	T	A80054218T	ANTXR2	NM_058172.6(ANTXR2):c.636+54T>A	noncoding	Benign
4	80054481	T	C	T80054481C	ANTXR2	NM_058172.6(ANTXR2):c.556-129A>G	noncoding	Benign
4	80054610	A	C	A80054610C	ANTXR2	NM_058172.6(ANTXR2):c.556-258T>G	noncoding	Benign
4	80055266	G	T	G80055266T	ANTXR2	NM_058172.6(ANTXR2):c.487-48C>A	noncoding	Benign
4	80056143	T	A	T80056143A	ANTXR2	NM_058172.6(ANTXR2):c.297-130A>T	noncoding	Benign
4	80069700	C	T	C80069700T	ANTXR2	NM_058172.6(ANTXR2):c.225-193G>A	noncoding	Benign
4	80072228	G	C	G80072228C	ANTXR2	NM_058172.6(ANTXR2):c.152+181C>G	noncoding	Benign
4	80072248	G	A	G80072248A	ANTXR2	NM_058172.6(ANTXR2):c.152+161C>T	noncoding	Benign
4	80073437	A	T	A80073437T	ANTXR2	NM_001286780.2(ANTXR2):c.-122T>A	noncoding	Benign
4	80201534	G	T	G80201534T	PRDM8	NM_001099403.2(PRDM8):c.451+13G>T	noncoding	Benign/Likely_benign
4	80202224	C	T	C80202224T	PRDM8	NM_001099403.2(PRDM8):c.762C>T:p.Ser254=	coding	Benign
4	80203442	G	C	G80203442C	PRDM8	NM_001099403.2(PRDM8):c.1980G>C:p.Arg660=	coding	Benign
4	81135226	G	A	G81135226A	PRKG2	NM_006259.3(PRKG2):c.1705C>T:p.Arg569Ter	coding	Pathogenic
4	82355233	G	A	G82355233A	HNRNPD	NM_031370.3(HNRNPD):c.*30+71C>T	noncoding	Benign
4	82357625	T	C	T82357625C	HNRNPD	NM_031370.3(HNRNPD):c.622-181A>G	noncoding	Benign
4	82357762	T	A	T82357762A	HNRNPD	NM_031370.3(HNRNPD):c.622-318A>T	noncoding	Benign
4	82358569	T	C	T82358569C	HNRNPD	NM_031370.3(HNRNPD):c.621+90A>G	noncoding	Benign
4	82358578	C	T	C82358578T	HNRNPD	NM_031370.3(HNRNPD):c.621+81G>A	noncoding	Benign
4	82371880	A	T	A82371880T	HNRNPD	NM_031370.3(HNRNPD):c.234-296T>A	noncoding	Benign
4	82425953	T	C	T82425953C	HNRNPDL	NM_031372.4(HNRNPDL):c.*22+84A>G	noncoding	Benign
4	82426838	T	G	T82426838G	HNRNPDL	NM_031372.4(HNRNPDL):c.1022-205A>C	noncoding	Benign
4	82427174	A	C	A82427174C	HNRNPDL	NM_031372.4(HNRNPDL):c.1021+16T>G	noncoding	Benign
4	82427745	T	C	T82427745C	HNRNPDL	NM_031372.4(HNRNPDL):c.775-181A>G	noncoding	Benign
4	82427825	T	C	T82427825C	HNRNPDL	NM_031372.4(HNRNPDL):c.774+193A>G	noncoding	Benign
4	82428060	A	C	A82428060C	HNRNPDL	NM_031372.4(HNRNPDL):c.732T>G:p.Thr244=	coding	Benign
4	82428194	T	A	T82428194A	HNRNPDL	NM_031372.4(HNRNPDL):c.613-15A>T	noncoding	Benign
4	82428196	T	C	T82428196C	HNRNPDL	NM_031372.4(HNRNPDL):c.613-17A>G	noncoding	Benign
4	82429801	C	T	C82429801T	HNRNPDL	NM_031372.4(HNRNPDL):c.-111G>A	noncoding	Benign
4	82430452	G	T	G82430452T	HNRNPDL	NM_031372.4(HNRNPDL):c.-762C>A	noncoding	Benign
4	82844538	G	T	G82844538T	SEC31A	NM_001077207.4(SEC31A):c.2503-29C>A	noncoding	Benign
4	82853534	C	G	C82853534G	SEC31A	NM_001077207.4(SEC31A):c.2154+36G>C	noncoding	Benign
4	82866986	C	A	C82866986A	SEC31A	NM_001077207.4(SEC31A):c.1045-26G>T	noncoding	Benign
4	82867191	A	T	A82867191T	SEC31A	NM_001077207.4(SEC31A):c.1008T>A:p.Gly336=	coding	Benign
4	82872090	A	C	A82872090C	SEC31A	NM_001077207.4(SEC31A):c.640-4T>G	noncoding	Benign
4	82874653	T	C	T82874653C	SEC31A	NM_001077207.4(SEC31A):c.597A>G:p.Arg199=	coding	Benign
4	83267849	C	G	C83267849G	COQ2	NM_001358921.2(COQ2):c.763-75G>C	noncoding	Benign
4	83269748	T	C	T83269748C	COQ2	NM_001358921.2(COQ2):c.762+112A>G	noncoding	Benign
4	83269825	A	G	A83269825G	COQ2	NM_001358921.2(COQ2):c.762+35T>C	noncoding	Benign
4	83269959	C	T	C83269959T	COQ2	NM_001358921.2(COQ2):c.663G>A:p.Trp221Ter	coding	Pathogenic
4	83271015	G	C	G83271015C	COQ2	NM_001358921.2(COQ2):c.629-1022C>G	noncoding	Benign
4	83272213	C	T	C83272213T	COQ2	NM_001358921.2(COQ2):c.543-41G>A	noncoding	Benign
4	83279084	C	T	C83279084T	COQ2	NM_001358921.2(COQ2):c.284G>A:p.Trp95Ter	coding	Pathogenic
4	83284465	A	C	A83284465C	COQ2	NM_001358921.2(COQ2):c.253+47T>G	noncoding	Benign
4	83284830	C	A	C83284830A	COQ2	NM_015697.9(COQ2):c.85G>T:p.Gly29Cys	coding	Benign
4	83320204	G	A	G83320204A	HPSE	NM_001098540.3(HPSE):c.374-735C>T	noncoding	Benign
4	83462657	C	T	C83462657T	ABRAXAS1	NM_139076.3(ABRAXAS1):c.1042G>A:p.Ala348Thr	coding	Benign
4	83462917	A	T	A83462917T	ABRAXAS1	NM_139076.3(ABRAXAS1):c.797-15T>A	noncoding	Benign
4	83463259	G	C	G83463259C	ABRAXAS1	NM_139076.3(ABRAXAS1):c.796+235C>G	noncoding	Benign
4	83463701	T	G	T83463701G	ABRAXAS1	NM_139076.3(ABRAXAS1):c.682-93A>C	noncoding	Benign
4	83463715	A	C	A83463715C	ABRAXAS1	NM_139076.3(ABRAXAS1):c.682-107T>G	noncoding	Benign
4	83463842	C	T	C83463842T	ABRAXAS1	NM_139076.3(ABRAXAS1):c.682-234G>A	noncoding	Benign
4	83467762	C	T	C83467762T	ABRAXAS1	NM_139076.3(ABRAXAS1):c.597-224G>A	noncoding	Benign
4	83468935	A	G	A83468935G	ABRAXAS1	NM_139076.3(ABRAXAS1):c.596+97T>C	noncoding	Benign
4	83469939	G	C	G83469939C	ABRAXAS1	NM_139076.3(ABRAXAS1):c.476+264C>G	noncoding	Benign
4	83470504	G	A	G83470504A	ABRAXAS1	NM_139076.3(ABRAXAS1):c.283-108C>T	noncoding	Benign
4	83472091	T	A	T83472091A	ABRAXAS1	NM_139076.3(ABRAXAS1):c.282+131A>T	noncoding	Benign
4	83472322	C	T	C83472322T	ABRAXAS1	NM_139076.3(ABRAXAS1):c.216-34G>A	noncoding	Benign
4	83472332	A	G	A83472332G	ABRAXAS1	NM_139076.3(ABRAXAS1):c.216-44T>C	noncoding	Benign
4	83476437	A	C	A83476437C	ABRAXAS1	NM_139076.3(ABRAXAS1):c.215+206T>G	noncoding	Benign
4	83476467	G	A	G83476467A	ABRAXAS1	NM_139076.3(ABRAXAS1):c.215+176C>T	noncoding	Benign
4	83476924	C	T	C83476924T	ABRAXAS1	NM_139076.3(ABRAXAS1):c.179-245G>A	noncoding	Benign
4	83485076	A	G	A83485076G	ABRAXAS1	NM_139076.3(ABRAXAS1):c.-4T>C	noncoding	Benign
4	83485123	G	C	G83485123C	ABRAXAS1	Single_allele	noncoding	Benign
4	83485126	A	G	A83485126G	ABRAXAS1	Single_allele	noncoding	Benign
4	83485158	C	T	C83485158T	ABRAXAS1	Single_allele	noncoding	Benign
4	84683937	A	G	A84683937G	WDFY3	NM_014991.6(WDFY3):c.9726+6T>C	noncoding	Benign
4	84691422	G	A	G84691422A	WDFY3	NM_014991.6(WDFY3):c.9204+209C>T	noncoding	Benign
4	84691584	A	G	A84691584G	WDFY3	NM_014991.6(WDFY3):c.9204+47T>C	noncoding	Benign
4	84691741	T	C	T84691741C	WDFY3	NM_014991.6(WDFY3):c.9094A>G:p.Ile3032Val	coding	Benign
4	84704548	A	G	A84704548G	WDFY3	NM_014991.6(WDFY3):c.8336-104T>C	noncoding	Benign
4	84705665	A	G	A84705665G	WDFY3	NM_014991.6(WDFY3):c.8218-154T>C	noncoding	Benign
4	84709296	C	T	C84709296T	WDFY3	NM_014991.6(WDFY3):c.8094G>A:p.Trp2698Ter	coding	Pathogenic
4	84712979	T	A	T84712979A	WDFY3	NM_014991.6(WDFY3):c.8042+180A>T	noncoding	Benign
4	84712991	C	A	C84712991A	WDFY3	NM_014991.6(WDFY3):c.8042+168G>T	noncoding	Benign
4	84713111	T	A	T84713111A	WDFY3	NM_014991.6(WDFY3):c.8042+48A>T	noncoding	Benign
4	84713335	T	C	T84713335C	WDFY3	NM_014991.6(WDFY3):c.7962-96A>G	noncoding	Benign
4	84713427	G	C	G84713427C	WDFY3	NM_014991.6(WDFY3):c.7962-188C>G	noncoding	Benign
4	84716871	A	T	A84716871T	WDFY3	NM_014991.6(WDFY3):c.7875+25T>A	noncoding	Benign
4	84718360	C	T	C84718360T	WDFY3	NM_014991.6(WDFY3):c.7754+62G>A	noncoding	Benign
4	84718626	T	C	T84718626C	WDFY3	NM_014991.6(WDFY3):c.7606-56A>G	noncoding	Benign
4	84718640	C	T	C84718640T	WDFY3	NM_014991.6(WDFY3):c.7606-70G>A	noncoding	Benign
4	84721790	T	C	T84721790C	WDFY3	NM_014991.6(WDFY3):c.7442-218A>G	noncoding	Benign
4	84726801	A	G	A84726801G	WDFY3	NM_014991.6(WDFY3):c.7272+60T>C	noncoding	Benign
4	84735197	T	C	T84735197C	WDFY3	NM_014991.6(WDFY3):c.6916-77A>G	noncoding	Benign
4	84736127	C	T	C84736127T	WDFY3	NM_014991.6(WDFY3):c.6915+43G>A	noncoding	Benign
4	84740462	A	G	A84740462G	WDFY3	NM_014991.6(WDFY3):c.6235-46T>C	noncoding	Benign
4	84741909	G	A	G84741909A	WDFY3	NM_014991.6(WDFY3):c.6086C>T:p.Ser2029Phe	coding	Benign
4	84743598	A	C	A84743598C	WDFY3	NM_014991.6(WDFY3):c.6073+102T>G	noncoding	Benign
4	84765726	G	T	G84765726T	WDFY3	NM_014991.6(WDFY3):c.5188+84C>A	noncoding	Benign
4	84778426	A	G	A84778426G	WDFY3	NM_014991.6(WDFY3):c.4518+77T>C	noncoding	Benign
4	84783075	C	A	C84783075A	WDFY3	NM_014991.6(WDFY3):c.4063-1G>T	coding	Pathogenic
4	84787639	G	A	G84787639A	WDFY3	NM_014991.6(WDFY3):c.3744C>T:p.Tyr1248=	coding	Benign
4	84787646	T	C	T84787646C	WDFY3	NM_014991.6(WDFY3):c.3737A>G:p.Tyr1246Cys	coding	Benign
4	84789671	C	A	C84789671A	WDFY3	NM_014991.6(WDFY3):c.3669+55G>T	noncoding	Benign
4	84794564	G	A	G84794564A	WDFY3	NM_014991.6(WDFY3):c.3442C>T:p.Arg1148Ter	coding	Pathogenic
4	84809761	T	C	T84809761C	WDFY3	NM_014991.6(WDFY3):c.2345+126A>G	noncoding	Benign
4	84841232	T	C	T84841232C	WDFY3	NM_014991.6(WDFY3):c.336A>G:p.Leu112=	coding	Benign
4	85570281	T	C	T85570281C	ARHGAP24	NM_001025616.3(ARHGAP24):c.-20-241T>C	noncoding	Benign
4	85570815	G	A	G85570815A	ARHGAP24	NM_001025616.3(ARHGAP24):c.180+94G>A	noncoding	Benign
4	85570865	G	A	G85570865A	ARHGAP24	NM_001025616.3(ARHGAP24):c.180+144G>A	noncoding	Benign
4	85570908	A	G	A85570908G	ARHGAP24	NM_001025616.3(ARHGAP24):c.180+187A>G	noncoding	Benign
4	85721665	T	C	T85721665C	ARHGAP24	NM_001025616.3(ARHGAP24):c.181-220T>C	noncoding	Benign
4	85721846	C	A	C85721846A	ARHGAP24	NM_001025616.3(ARHGAP24):c.181-39C>A	noncoding	Benign
4	85722002	A	C	A85722002C	ARHGAP24	NM_001025616.3(ARHGAP24):c.268+30A>C	noncoding	Benign
4	85722181	G	A	G85722181A	ARHGAP24	NM_001025616.3(ARHGAP24):c.268+209G>A	noncoding	Benign
4	85722214	A	C	A85722214C	ARHGAP24	NM_001025616.3(ARHGAP24):c.268+242A>C	noncoding	Benign
4	85828153	T	C	T85828153C	ARHGAP24	NM_001025616.3(ARHGAP24):c.269-95495T>C	noncoding	Benign
4	85923329	G	C	G85923329C	ARHGAP24	NM_001025616.3(ARHGAP24):c.269-319G>C	noncoding	Benign
4	85923640	T	C	T85923640C	ARHGAP24	NM_001025616.3(ARHGAP24):c.269-8T>C	noncoding	Benign
4	85923682	A	G	A85923682G	ARHGAP24	NM_001025616.3(ARHGAP24):c.303A>G:p.Glu101=	coding	Benign
4	85923795	A	G	A85923795G	ARHGAP24	NM_001025616.3(ARHGAP24):c.391+25A>G	noncoding	Benign
4	85923847	C	G	C85923847G	ARHGAP24	NM_001025616.3(ARHGAP24):c.391+77C>G	noncoding	Benign
4	85930155	A	T	A85930155T	ARHGAP24	NM_001025616.3(ARHGAP24):c.391+6385A>T	noncoding	Benign
4	85930181	G	C	G85930181C	ARHGAP24	NM_001025616.3(ARHGAP24):c.391+6411G>C	noncoding	Benign
4	85930407	A	G	A85930407G	ARHGAP24	NM_001025616.3(ARHGAP24):c.391+6637A>G	coding	Benign
4	85930443	C	T	C85930443T	ARHGAP24	NM_001025616.3(ARHGAP24):c.391+6673C>T	coding	Benign
4	85930731	T	G	T85930731G	ARHGAP24	NM_001025616.3(ARHGAP24):c.391+6961T>G	coding	Benign
4	85930944	G	T	G85930944T	ARHGAP24	NM_001025616.3(ARHGAP24):c.391+7174G>T	coding	Benign
4	85931355	G	C	G85931355C	ARHGAP24	NM_001025616.3(ARHGAP24):c.391+7585G>C	noncoding	Benign
4	85941879	G	A	G85941879A	ARHGAP24	NM_001025616.3(ARHGAP24):c.392-187G>A	noncoding	Benign
4	85942013	C	T	C85942013T	ARHGAP24	NM_001025616.3(ARHGAP24):c.392-53C>T	noncoding	Benign
4	85942199	A	C	A85942199C	ARHGAP24	NM_001025616.3(ARHGAP24):c.525A>C:p.Arg175=	coding	Benign
4	85942314	T	A	T85942314A	ARHGAP24	NM_001025616.3(ARHGAP24):c.599+41T>A	noncoding	Benign
4	85977347	A	G	A85977347G	ARHGAP24	NM_001025616.3(ARHGAP24):c.807-223A>G	noncoding	Benign
4	85977955	G	A	G85977955A	ARHGAP24	NM_001025616.3(ARHGAP24):c.928+264G>A	noncoding	Benign
4	85994441	T	C	T85994441C	ARHGAP24	NM_001025616.3(ARHGAP24):c.929-142T>C	noncoding	Benign
4	85994554	A	G	A85994554G	ARHGAP24	NM_001025616.3(ARHGAP24):c.929-29A>G	noncoding	Benign
4	85994695	T	C	T85994695C	ARHGAP24	NM_001025616.3(ARHGAP24):c.1041T>C:p.Asn347=	coding	Benign
4	85994770	G	A	G85994770A	ARHGAP24	NM_001025616.3(ARHGAP24):c.1116G>A:p.Arg372=	coding	Benign
4	85994903	C	G	C85994903G	ARHGAP24	NM_001025616.3(ARHGAP24):c.1249C>G:p.Pro417Ala	coding	Benign/Likely_benign
4	85995957	A	G	A85995957G	ARHGAP24	NM_001025616.3(ARHGAP24):c.2003+300A>G	noncoding	Benign
4	86000456	A	C	A86000456C	ARHGAP24	NM_001025616.3(ARHGAP24):c.2004-23A>C	noncoding	Benign
4	86000459	C	G	C86000459G	ARHGAP24	NM_001025616.3(ARHGAP24):c.2004-20C>G	noncoding	Benign
4	86000659	G	A	G86000659A	ARHGAP24	NM_001025616.3(ARHGAP24):c.2184G>A:p.Thr728=	coding	Benign
4	86001034	A	T	A86001034T	ARHGAP24	NM_001025616.3(ARHGAP24):c.*312A>T	noncoding	Benign
4	87310277	G	A	G87310277A	HSD17B13	NM_178135.5(HSD17B13):c.778C>T:p.Pro260Ser	coding	Benign
4	87610648	C	T	C87610648T	DSPP	NM_014208.3(DSPP):c.-28-233C>T	noncoding	Benign
4	87610715	C	T	C87610715T	DSPP	NM_014208.3(DSPP):c.-28-166C>T	noncoding	Benign
4	87612103	A	G	A87612103G	DSPP	NM_014208.3(DSPP):c.52-2A>G	noncoding	Pathogenic
4	87612106	T	G	T87612106G	DSPP	NM_014208.3(DSPP):c.53T>G:p.Val18Gly	coding	Pathogenic
4	87612188	G	A	G87612188A	DSPP	NM_014208.3(DSPP):c.135G>A:p.Gln45=	coding	Pathogenic
4	87613611	G	A	G87613611A	DSPP	NM_014208.3(DSPP):c.1123-174G>A	noncoding	Benign
4	87613921	T	C	T87613921C	DSPP	NM_014208.3(DSPP):c.1259T>C:p.Val420Ala	coding	Benign
4	87613988	T	C	T87613988C	DSPP	NM_014208.3(DSPP):c.1326T>C:p.Gly442=	coding	Benign
4	87614633	C	T	C87614633T	DSPP	NM_014208.3(DSPP):c.1971C>T:p.Ser657=	coding	Benign
4	87614674	G	A	G87614674A	DSPP	NM_014208.3(DSPP):c.2012G>A:p.Ser671Asn	coding	Benign
4	87615210	G	A	G87615210A	DSPP	NM_014208.3(DSPP):c.2548G>A:p.Gly850Ser	coding	Benign
4	87615368	T	C	T87615368C	DSPP	NM_014208.3(DSPP):c.2706T>C:p.Asp902=	coding	Benign
4	87615398	T	C	T87615398C	DSPP	NM_014208.3(DSPP):c.2736T>C:p.Ser912=	coding	Benign
4	87615540	A	G	A87615540G	DSPP	NM_014208.3(DSPP):c.2878A>G:p.Ser960Gly	coding	Benign
4	87615666	A	G	A87615666G	DSPP	NM_014208.3(DSPP):c.3004A>G:p.Asn1002Asp	coding	Benign
4	87615731	T	C	T87615731C	DSPP	NM_014208.3(DSPP):c.3069T>C:p.Asn1023=	coding	Benign
4	87615866	T	C	T87615866C	DSPP	NM_014208.3(DSPP):c.3204T>C:p.Asp1068=	coding	Benign/Likely_benign
4	87615911	A	C	A87615911C	DSPP	NM_014208.3(DSPP):c.3249A>C:p.Glu1083Asp	coding	Benign
4	87615936	A	G	A87615936G	DSPP	NM_014208.3(DSPP):c.3274A>G:p.Asn1092Asp	coding	Benign
4	87615956	T	C	T87615956C	DSPP	NM_014208.3(DSPP):c.3294T>C:p.Asp1098=	coding	Benign
4	87615962	C	T	C87615962T	DSPP	NM_014208.3(DSPP):c.3300C>T:p.Ser1100=	coding	Benign
4	87615971	C	T	C87615971T	DSPP	NM_014208.3(DSPP):c.3309C>T:p.Ser1103=	coding	Benign
4	87615980	C	T	C87615980T	DSPP	NM_014208.3(DSPP):c.3318C>T:p.Ser1106=	coding	Benign
4	87615983	T	A	T87615983A	DSPP	NM_014208.3(DSPP):c.3321T>A:p.Asp1107Glu	coding	Benign
4	87615983	T	C	T87615983C	DSPP	NM_014208.3(DSPP):c.3321T>C:p.Asp1107=	coding	Benign
4	87615989	T	C	T87615989C	DSPP	NM_014208.3(DSPP):c.3327T>C:p.Ser1109=	coding	Benign
4	87615998	C	T	C87615998T	DSPP	NM_014208.3(DSPP):c.3336C>T:p.Ser1112=	coding	Benign
4	87616046	C	A	C87616046A	DSPP	NM_014208.3(DSPP):c.3384C>A:p.Asp1128Glu	coding	Benign
4	87616052	C	T	C87616052T	DSPP	NM_014208.3(DSPP):c.3390C>T:p.Ser1130=	coding	Benign
4	87616061	T	C	T87616061C	DSPP	NM_014208.3(DSPP):c.3399T>C:p.Ser1133=	coding	Benign
4	87616080	A	G	A87616080G	DSPP	NM_014208.3(DSPP):c.3418A>G:p.Asn1140Asp	coding	Benign
4	87616091	C	T	C87616091T	DSPP	NM_014208.3(DSPP):c.3429C>T:p.Asp1143=	coding	Benign
4	87616116	G	A	G87616116A	DSPP	NM_014208.3(DSPP):c.3454G>A:p.Asp1152Asn	coding	Benign
4	87616118	C	T	C87616118T	DSPP	NM_014208.3(DSPP):c.3456C>T:p.Asp1152=	coding	Benign
4	87616226	T	C	T87616226C	DSPP	NM_014208.3(DSPP):c.3564T>C:p.Asp1188=	coding	Benign
4	87616232	T	C	T87616232C	DSPP	NM_014208.3(DSPP):c.3570T>C:p.Ser1190=	coding	Benign
4	87616253	T	C	T87616253C	DSPP	NM_014208.3(DSPP):c.3591T>C:p.Asp1197=	coding	Benign
4	87616268	C	T	C87616268T	DSPP	NM_014208.3(DSPP):c.3606C>T:p.Ser1202=	coding	Benign
4	87616271	T	C	T87616271C	DSPP	NM_014208.3(DSPP):c.3609T>C:p.Asp1203=	coding	Benign
4	87616286	T	C	T87616286C	DSPP	NM_014208.3(DSPP):c.3624T>C:p.Ser1208=	coding	Benign
4	87616339	G	A	G87616339A	DSPP	NM_014208.3(DSPP):c.3677G>A:p.Ser1226Asn	coding	Benign
4	87616340	C	T	C87616340T	DSPP	NM_014208.3(DSPP):c.3678C>T:p.Ser1226=	coding	Benign
4	87616349	T	C	T87616349C	DSPP	NM_014208.3(DSPP):c.3687T>C:p.Ser1229=	coding	Benign
4	87616357	A	G	A87616357G	DSPP	NM_014208.3(DSPP):c.3695A>G:p.Asn1232Ser	coding	Benign
4	87616361	A	C	A87616361C	DSPP	NM_014208.3(DSPP):c.3699A>C:p.Glu1233Asp	coding	Benign
4	87616404	A	G	A87616404G	DSPP	NM_014208.3(DSPP):c.3742A>G:p.Asn1248Asp	coding	Benign
4	87656267	T	C	T87656267C	DMP1	NM_004407.4(DMP1):c.-21-205T>C	noncoding	Benign
4	87656421	A	G	A87656421G	DMP1	NM_004407.4(DMP1):c.-21-51A>G	noncoding	Benign
4	87656494	T	A	T87656494A	DMP1	NM_004407.4(DMP1):c.2T>A:p.Met1Lys	coding	Pathogenic
4	87656496	A	T	A87656496T	DMP1	NM_004407.4(DMP1):c.4A>T:p.Lys2Ter	coding	Pathogenic
4	87656602	A	G	A87656602G	DMP1	NM_004407.4(DMP1):c.54+56A>G	noncoding	Benign
4	87657158	A	G	A87657158G	DMP1	NM_004407.4(DMP1):c.102+79A>G	noncoding	Benign
4	87657335	T	C	T87657335C	DMP1	NM_004407.4(DMP1):c.102+256T>C	noncoding	Benign
4	87659658	T	C	T87659658C	DMP1	NM_004407.4(DMP1):c.183+180T>C	noncoding	Benign
4	87662223	G	T	G87662223T	DMP1	NM_004407.4(DMP1):c.445G>T:p.Glu149Ter	coding	Pathogenic
4	88008202	C	T	C88008202T	PKD2	NM_000297.4(PKD2):c.469C>T:p.Arg157Ter	coding	Pathogenic
4	88008289	C	T	C88008289T	PKD2	NM_000297.4(PKD2):c.556C>T:p.Arg186Ter	coding	Pathogenic
4	88008300	G	A	G88008300A	PKD2	NM_000297.4(PKD2):c.567G>A:p.Trp189Ter	coding	Pathogenic
4	88008330	T	C	T88008330C	PKD2	NM_000297.4(PKD2):c.595+2T>C	noncoding	Pathogenic
4	88008535	T	C	T88008535C	PKD2	NM_000297.4(PKD2):c.595+207T>C	noncoding	Benign
4	88019371	T	A	T88019371A	PKD2	NM_000297.4(PKD2):c.596-87T>A	noncoding	Benign
4	88019502	G	T	G88019502T	PKD2	NM_000297.4(PKD2):c.640G>T:p.Glu214Ter	coding	Pathogenic
4	88036219	G	A	G88036219A	PKD2	NM_000297.4(PKD2):c.710-1G>A	noncoding	Pathogenic
4	88036227	C	A	C88036227A	PKD2	NM_000297.4(PKD2):c.717C>A:p.Tyr239Ter	coding	Pathogenic/Likely_pathogenic
4	88036354	G	A	G88036354A	PKD2	NM_000297.4(PKD2):c.843+1G>A	coding	Pathogenic
4	88036571	C	A	C88036571A	PKD2	NM_000297.4(PKD2):c.843+218C>A	noncoding	Benign
4	88038249	A	G	A88038249G	PKD2	NM_000297.4(PKD2):c.844-2A>G	noncoding	Pathogenic
4	88038267	T	G	T88038267G	PKD2	NM_000297.4(PKD2):c.860T>G:p.Leu287Ter	coding	Pathogenic
4	88038425	G	T	G88038425T	PKD2	NM_000297.4(PKD2):c.1018G>T:p.Glu340Ter	coding	Pathogenic
4	88038770	G	C	G88038770C	PKD2	NM_000297.4(PKD2):c.1094+269G>C	noncoding	Benign
4	88038809	T	C	T88038809C	PKD2	NM_000297.4(PKD2):c.1094+308T>C	noncoding	Benign
4	88038816	G	C	G88038816C	PKD2	NM_000297.4(PKD2):c.1094+315G>C	noncoding	Benign
4	88038825	T	A	T88038825A	PKD2	NM_000297.4(PKD2):c.1094+324T>A	noncoding	Benign
4	88043296	T	G	T88043296G	PKD2	NM_000297.4(PKD2):c.1158T>G:p.Tyr386Ter	coding	Pathogenic
4	88043314	T	A	T88043314A	PKD2	NM_000297.4(PKD2):c.1176T>A:p.Tyr392Ter	coding	Pathogenic
4	88046688	C	T	C88046688T	PKD2	NM_000297.4(PKD2):c.1366C>T:p.Gln456Ter	coding	Pathogenic
4	88047191	A	G	A88047191G	PKD2	NM_000297.4(PKD2):c.1548+321A>G	noncoding	Benign
4	88051854	T	C	T88051854C	PKD2	NM_000297.4(PKD2):c.1549-137T>C	noncoding	Benign
4	88051944	C	T	C88051944T	PKD2	NM_000297.4(PKD2):c.1549-47C>T	noncoding	Benign
4	88052051	C	T	C88052051T	PKD2	NM_000297.4(PKD2):c.1609C>T:p.Gln537Ter	coding	Pathogenic
4	88052104	G	A	G88052104A	PKD2	NM_000297.4(PKD2):c.1662G>A:p.Trp554Ter	coding	Pathogenic
4	88052105	C	T	C88052105T	PKD2	NM_000297.4(PKD2):c.1663C>T:p.Gln555Ter	coding	Pathogenic
4	88052160	T	A	T88052160A	PKD2	NM_000297.4(PKD2):c.1716+2T>A	noncoding	Pathogenic
4	88052175	A	G	A88052175G	PKD2	NM_000297.4(PKD2):c.1716+17A>G	noncoding	Benign
4	88052275	A	G	A88052275G	PKD2	NM_000297.4(PKD2):c.1716+117A>G	noncoding	Benign
4	88052468	T	C	T88052468C	PKD2	NM_000297.4(PKD2):c.1716+310T>C	noncoding	Benign
4	88056206	C	T	C88056206T	PKD2	NM_000297.4(PKD2):c.1837C>T:p.Gln613Ter	coding	Pathogenic/Likely_pathogenic
4	88058044	C	T	C88058044T	PKD2	NM_000297.4(PKD2):c.1960C>T:p.Arg654Ter	coding	Pathogenic
4	88058377	C	A	C88058377A	PKD2	NM_000297.4(PKD2):c.2019+274C>A	noncoding	Benign
4	88061938	C	A	C88061938A	PKD2	NM_000297.4(PKD2):c.2052C>A:p.Tyr684Ter	coding	Pathogenic
4	88061988	C	G	C88061988G	PKD2	NM_000297.4(PKD2):c.2102C>G:p.Ser701Ter	coding	Pathogenic
4	88065372	A	G	A88065372G	PKD2	NM_000297.4(PKD2):c.2119-2A>G	noncoding	Pathogenic
4	88065394	C	T	C88065394T	PKD2	NM_000297.4(PKD2):c.2139C>T:p.Val713=	coding	Benign/Likely_benign
4	88065419	G	T	G88065419T	PKD2	NM_000297.4(PKD2):c.2164G>T:p.Val722Leu	coding	Benign/Likely_benign
4	88065473	G	T	G88065473T	PKD2	NM_000297.4(PKD2):c.2218G>T:p.Glu740Ter	coding	Pathogenic
4	88065496	G	A	G88065496A	PKD2	NM_000297.4(PKD2):c.2240+1G>A	coding	Pathogenic
4	88065880	G	C	G88065880C	PKD2	NM_000297.4(PKD2):c.2358+1G>C	coding	Pathogenic
4	88066124	A	T	A88066124T	PKD2	NM_000297.4(PKD2):c.2358+245A>T	noncoding	Benign
4	88067999	C	T	C88067999T	PKD2	NM_000297.4(PKD2):c.2460C>T:p.Ser820=	coding	Benign
4	88068047	C	A	C88068047A	PKD2	NM_000297.4(PKD2):c.2508C>A:p.Tyr836Ter	coding	Pathogenic
4	88068047	C	G	C88068047G	PKD2	NM_000297.4(PKD2):c.2508C>G:p.Tyr836Ter	coding	Pathogenic
4	88074643	T	C	T88074643C	PKD2	NM_000297.4(PKD2):c.2523-169T>C	noncoding	Benign
4	88104957	C	T	C88104957T	ABCG2	NM_004827.3(ABCG2):c.1277+2227G>A	noncoding	Benign
4	88105276	A	C	A88105276C	ABCG2	NM_004827.3(ABCG2):c.1277+1908T>G	noncoding	Benign
4	88108100	A	C	A88108100C	ABCG2	NM_004827.3(ABCG2):c.1195-834T>G	noncoding	Benign
4	88268450	G	A	G88268450A	PPM1K	NM_152542.5(PPM1K):c.708-116C>T	noncoding	Benign
4	88268503	C	T	C88268503T	PPM1K	NM_152542.5(PPM1K):c.708-169G>A	noncoding	Benign
4	88268734	G	A	G88268734A	PPM1K	NM_152542.5(PPM1K):c.707+7C>T	noncoding	Benign
4	88278290	G	A	G88278290A	PPM1K	NM_152542.5(PPM1K):c.294C>T:p.Ala98=	coding	Benign
4	88522011	G	A	G88522011A	PIGY	NM_001042616.3(PIGY):c.-222C>T	coding	Benign
4	88523787	C	T	C88523787T	PIGY	Single_allele	noncoding	Benign
4	88523885	C	T	C88523885T	PIGY	NM_001375482.1(HERC3):c.-135C>T	noncoding	Benign
4	88962828	C	T	C88962828T	FAM13A	NM_014883.4(FAM13A):c.606-24587G>A	noncoding	Benign
4	88963935	G	T	G88963935T	FAM13A	NM_014883.4(FAM13A):c.606-25694C>A	noncoding	Benign
4	89726714	T	C	T89726714C	SNCA	NM_000345.4(SNCA):c.391-54A>G	noncoding	Benign
4	89822180	C	T	C89822180T	SNCA	NM_000345.4(SNCA):c.306+66G>A	noncoding	Benign
4	89822704	C	G	C89822704G	SNCA	NM_000345.4(SNCA):c.164-316G>C	noncoding	Benign
4	89827981	A	T	A89827981T	SNCA	NM_000345.4(SNCA):c.163+162T>A	noncoding	Benign
4	89828320	T	A	T89828320A	SNCA	NM_000345.4(SNCA):c.122-136A>T	noncoding	Benign
4	89835270	G	C	G89835270C	SNCA	NM_000345.4(SNCA):c.121+277C>G	noncoding	Benign
4	89835399	C	G	C89835399G	SNCA	NM_000345.4(SNCA):c.121+148G>C	noncoding	Benign
4	92304340	C	T	C92304340T	GRID2	NM_001510.4(GRID2):c.-317C>T	noncoding	Benign
4	92304923	C	G	C92304923G	GRID2	NM_001510.4(GRID2):c.88+179C>G	noncoding	Benign
4	92590330	G	A	G92590330A	GRID2	NM_001510.4(GRID2):c.244+44G>A	noncoding	Benign
4	92590399	G	C	G92590399C	GRID2	NM_001510.4(GRID2):c.244+113G>C	noncoding	Benign
4	93084719	C	G	C93084719G	GRID2	NM_001510.4(GRID2):c.245-276C>G	noncoding	Benign
4	93110974	G	C	G93110974C	GRID2	NM_001510.4(GRID2):c.735+21G>C	noncoding	Benign
4	93111149	T	C	T93111149C	GRID2	NM_001510.4(GRID2):c.735+196T>C	noncoding	Benign
4	93207155	C	T	C93207155T	GRID2	NM_001510.4(GRID2):c.736-249C>T	noncoding	Benign
4	93217091	A	T	A93217091T	GRID2	NM_001510.4(GRID2):c.963+180A>T	noncoding	Benign
4	93224942	A	G	A93224942G	GRID2	NM_001510.4(GRID2):c.1125+167A>G	noncoding	Benign
4	93225081	G	A	G93225081A	GRID2	NM_001510.4(GRID2):c.1125+306G>A	noncoding	Benign
4	93238311	G	A	G93238311A	GRID2	NM_001510.4(GRID2):c.1126-60G>A	noncoding	Benign
4	93238507	T	C	T93238507C	GRID2	NM_001510.4(GRID2):c.1245+17T>C	noncoding	Benign
4	93238619	A	G	A93238619G	GRID2	NM_001510.4(GRID2):c.1245+129A>G	noncoding	Benign
4	93238689	C	G	C93238689G	GRID2	NM_001510.4(GRID2):c.1245+199C>G	noncoding	Benign
4	93238700	G	T	G93238700T	GRID2	NM_001510.4(GRID2):c.1245+210G>T	noncoding	Benign
4	93395612	T	G	T93395612G	GRID2	NM_001510.4(GRID2):c.1251T>G:p.Gly417=	coding	Benign
4	93422881	C	T	C93422881T	GRID2	NM_001510.4(GRID2):c.1458C>T:p.Tyr486=	coding	Benign
4	93422891	G	A	G93422891A	GRID2	NM_001510.4(GRID2):c.1468G>A:p.Val490Ile	coding	Benign
4	93423103	A	G	A93423103G	GRID2	NM_001510.4(GRID2):c.1545+135A>G	noncoding	Benign
4	93455524	A	T	A93455524T	GRID2	NM_001510.4(GRID2):c.1546-138A>T	noncoding	Benign
4	93490402	G	A	G93490402A	GRID2	NM_001510.4(GRID2):c.1859-237G>A	noncoding	Benign
4	93490455	G	C	G93490455C	GRID2	NM_001510.4(GRID2):c.1859-184G>C	noncoding	Benign
4	93515496	T	G	T93515496G	GRID2	NM_001510.4(GRID2):c.2193+85T>G	noncoding	Benign
4	93515546	A	T	A93515546T	GRID2	NM_001510.4(GRID2):c.2193+135A>T	noncoding	Benign
4	93626206	C	G	C93626206G	GRID2	NM_001510.4(GRID2):c.2194-63C>G	noncoding	Benign
4	93772768	G	C	G93772768C	GRID2	NM_001510.4(GRID2):c.*270G>C	noncoding	Benign
4	94208087	T	C	T94208087C	SMARCAD1	NM_020159.5(SMARCAD1):c.-50+17T>C	noncoding	Benign
4	94208874	G	A	G94208874A	SMARCAD1	NM_020159.5(SMARCAD1):c.190+290G>A	noncoding	Benign
4	94225904	C	G	C94225904G	SMARCAD1	NM_020159.5(SMARCAD1):c.191-215C>G	noncoding	Benign
4	94226402	C	T	C94226402T	SMARCAD1	NM_020159.5(SMARCAD1):c.368+106C>T	noncoding	Benign
4	94240845	C	T	C94240845T	SMARCAD1	NM_020159.5(SMARCAD1):c.605-61C>T	noncoding	Benign
4	94241274	G	A	G94241274A	SMARCAD1	NM_020159.5(SMARCAD1):c.705+268G>A	noncoding	Benign
4	94249688	G	A	G94249688A	SMARCAD1	NM_020159.5(SMARCAD1):c.740G>A:p.Ser247Asn	coding	Benign
4	94252628	T	C	T94252628C	SMARCAD1	NM_020159.5(SMARCAD1):c.902T>C:p.Val301Ala	coding	Benign
4	94264904	A	G	A94264904G	SMARCAD1	NM_020159.5(SMARCAD1):c.1479A>G:p.Gln493=	coding	Benign
4	94276369	C	T	C94276369T	SMARCAD1	NM_020159.5(SMARCAD1):c.1839C>T:p.Asp613=	coding	Benign
4	94278328	C	G	C94278328G	SMARCAD1	NM_020159.5(SMARCAD1):c.2083-94C>G	noncoding	Benign
4	94281224	G	C	G94281224C	SMARCAD1	NM_020159.5(SMARCAD1):c.2608-248G>C	noncoding	Benign
4	94281341	G	A	G94281341A	SMARCAD1	NM_020159.5(SMARCAD1):c.2608-131G>A	noncoding	Benign
4	95052055	A	T	A95052055T	BMPR1B	NM_001203.3(BMPR1B):c.-17-52353A>T	noncoding	Benign
4	95104151	T	G	T95104151G	BMPR1B	NM_001203.3(BMPR1B):c.-17-257T>G	noncoding	Benign
4	95114925	A	G	A95114925G	BMPR1B	NM_001203.3(BMPR1B):c.246+103A>G	noncoding	Benign
4	95115349	C	A	C95115349A	BMPR1B	NM_001203.3(BMPR1B):c.247-336C>A	noncoding	Benign
4	95123661	A	T	A95123661T	BMPR1B	NM_001203.3(BMPR1B):c.350-149A>T	noncoding	Benign
4	95124683	C	G	C95124683G	BMPR1B	NM_001203.3(BMPR1B):c.447-300C>G	noncoding	Benign
4	95125336	C	A	C95125336A	BMPR1B	NM_001203.3(BMPR1B):c.585+215C>A	noncoding	Benign
4	95125392	A	G	A95125392G	BMPR1B	NM_001203.3(BMPR1B):c.585+271A>G	noncoding	Benign
4	95129626	G	A	G95129626A	BMPR1B	NM_001203.3(BMPR1B):c.586-236G>A	noncoding	Benign
4	95129844	T	G	T95129844G	BMPR1B	NM_001203.3(BMPR1B):c.586-18T>G	noncoding	Benign
4	95129947	G	A	G95129947A	BMPR1B	NM_001203.3(BMPR1B):c.671G>A:p.Arg224His	coding	Benign/Likely_benign
4	95131035	T	C	T95131035C	BMPR1B	NM_001203.3(BMPR1B):c.779-180T>C	noncoding	Benign
4	95131152	A	G	A95131152G	BMPR1B	NM_001203.3(BMPR1B):c.779-63A>G	noncoding	Benign
4	95149146	C	T	C95149146T	BMPR1B	NM_001203.3(BMPR1B):c.1252+223C>T	noncoding	Benign
4	95149148	A	C	A95149148C	BMPR1B	NM_001203.3(BMPR1B):c.1252+225A>C	noncoding	Benign
4	95152805	A	T	A95152805T	BMPR1B	NM_001203.3(BMPR1B):c.1383+32A>T	noncoding	Benign
4	95153014	A	G	A95153014G	BMPR1B	NM_001203.3(BMPR1B):c.1383+241A>G	noncoding	Benign
4	95153054	C	T	C95153054T	BMPR1B	NM_001203.3(BMPR1B):c.1383+281C>T	noncoding	Benign
4	95219000	C	T	C95219000T	UNC5C	NM_003728.4(UNC5C):c.1614G>A:p.Ser538=	coding	Benign
4	99075043	C	G	C99075043G	ADH5	NM_000671.4(ADH5):c.832G>C:p.Ala278Pro	coding	Pathogenic
4	99076703	C	T	C99076703T	ADH5	NM_000671.4(ADH5):c.564+1G>A	noncoding	Pathogenic
4	99549376	C	T	C99549376T	TRMT10A	NM_001134665.3(TRMT10A):c.752-20G>A	noncoding	Benign
4	99558204	G	A	G99558204A	TRMT10A	NM_001134665.3(TRMT10A):c.193C>T:p.Arg65Ter	coding	Pathogenic
4	99558221	G	A	G99558221A	TRMT10A	NM_001134665.3(TRMT10A):c.186-10C>T	noncoding	Benign
4	99574331	G	T	G99574331T	MTTP	NM_000253.4(MTTP):c.-101-478G>T	noncoding	Benign
4	99574660	T	C	T99574660C	MTTP	NM_000253.4(MTTP):c.-101-149T>C	noncoding	Benign
4	99581665	G	T	G99581665T	MTTP	NM_001386140.1(MTTP):c.62-240G>T	noncoding	Benign
4	99581926	T	G	T99581926G	MTTP	NM_001386140.1(MTTP):c.83T>G:p.Leu28Ter	coding	Pathogenic
4	99583284	T	C	T99583284C	MTTP	NM_001386140.1(MTTP):c.250-90T>C	noncoding	Benign
4	99589393	G	A	G99589393A	MTTP	NM_001386140.1(MTTP):c.394-250G>A	noncoding	Benign
4	99589611	T	C	T99589611C	MTTP	NM_001386140.1(MTTP):c.394-32T>C	noncoding	Benign
4	99589751	G	A	G99589751A	MTTP	NM_001386140.1(MTTP):c.501+1G>A	coding	Pathogenic
4	99589858	G	A	G99589858A	MTTP	NM_001386140.1(MTTP):c.501+108G>A	noncoding	Benign
4	99590981	C	T	C99590981T	MTTP	NM_001386140.1(MTTP):c.502-254C>T	noncoding	Benign
4	99591193	C	T	C99591193T	MTTP	NM_001386140.1(MTTP):c.502-42C>T	noncoding	Benign
4	99591267	C	A	C99591267A	MTTP	NM_001386140.1(MTTP):c.534C>A:p.Tyr178Ter	coding	Pathogenic
4	99591331	G	T	G99591331T	MTTP	NM_001386140.1(MTTP):c.598G>T:p.Gly200Ter	coding	Pathogenic
4	99594617	A	G	A99594617G	MTTP	NM_001386140.1(MTTP):c.759-116A>G	noncoding	Benign
4	99597081	G	A	G99597081A	MTTP	NM_001386140.1(MTTP):c.924G>A:p.Trp308Ter	coding	Pathogenic
4	99597326	A	T	A99597326T	MTTP	NM_001386140.1(MTTP):c.1067+102A>T	noncoding	Benign
4	99600480	C	T	C99600480T	MTTP	NM_001386140.1(MTTP):c.1068-85C>T	noncoding	Benign
4	99601382	T	G	T99601382G	MTTP	NM_001386140.1(MTTP):c.1237-225T>G	noncoding	Benign
4	99601435	C	T	C99601435T	MTTP	NM_001386140.1(MTTP):c.1237-172C>T	noncoding	Benign
4	99601522	G	A	G99601522A	MTTP	NM_001386140.1(MTTP):c.1237-85G>A	noncoding	Benign
4	99607224	C	T	C99607224T	MTTP	NM_001386140.1(MTTP):c.1557+264C>T	noncoding	Benign
4	99608557	C	T	C99608557T	MTTP	NM_001386140.1(MTTP):c.1558-209C>T	noncoding	Benign
4	99608826	C	T	C99608826T	MTTP	NM_001386140.1(MTTP):c.1618C>T:p.Arg540Cys	coding	Pathogenic/Likely_pathogenic
4	99608916	G	T	G99608916T	MTTP	NM_001386140.1(MTTP):c.1708G>T:p.Glu570Ter	coding	Pathogenic
4	99611096	A	T	A99611096T	MTTP	NM_001386140.1(MTTP):c.1770-47A>T	noncoding	Benign
4	99611188	T	A	T99611188A	MTTP	NM_001386140.1(MTTP):c.1815T>A:p.Tyr605Ter	coding	Pathogenic
4	99611245	G	A	G99611245A	MTTP	NM_001386140.1(MTTP):c.1867+5G>A	noncoding	Pathogenic
4	99611480	T	C	T99611480C	MTTP	NM_001386140.1(MTTP):c.1989+27T>C	noncoding	Benign
4	99611645	T	A	T99611645A	MTTP	NM_001386140.1(MTTP):c.1989+192T>A	noncoding	Benign
4	99612756	C	T	C99612756T	MTTP	NM_001386140.1(MTTP):c.1990-157C>T	noncoding	Benign
4	99612884	G	A	G99612884A	MTTP	NM_001386140.1(MTTP):c.1990-29G>A	noncoding	Benign
4	99613325	A	T	A99613325T	MTTP	NM_001386140.1(MTTP):c.2217+185A>T	noncoding	Benign
4	99613397	T	G	T99613397G	MTTP	NM_001386140.1(MTTP):c.2217+257T>G	noncoding	Benign
4	99618739	T	C	T99618739C	MTTP	NM_001386140.1(MTTP):c.2218-235T>C	noncoding	Benign
4	99618942	T	G	T99618942G	MTTP	NM_001386140.1(MTTP):c.2218-32T>G	noncoding	Benign
4	99618972	A	G	A99618972G	MTTP	NM_001386140.1(MTTP):c.2218-2A>G	noncoding	Pathogenic
4	99619091	A	T	A99619091T	MTTP	NM_001386140.1(MTTP):c.2335A>T:p.Lys779Ter	coding	Pathogenic
4	99621010	A	T	A99621010T	MTTP	NM_001386140.1(MTTP):c.2343-51A>T	noncoding	Benign
4	99621244	G	A	G99621244A	MTTP	NM_001386140.1(MTTP):c.2513+13G>A	noncoding	Benign/Likely_benign
4	99621325	A	G	A99621325G	MTTP	NM_001386140.1(MTTP):c.2513+94A>G	noncoding	Benign
4	99621421	A	G	A99621421G	MTTP	NM_001386140.1(MTTP):c.2513+190A>G	noncoding	Benign
4	99621466	T	C	T99621466C	MTTP	NM_001386140.1(MTTP):c.2513+235T>C	noncoding	Benign
4	99622588	A	G	A99622588G	MTTP	NM_001386140.1(MTTP):c.2514-89A>G	noncoding	Benign
4	99622741	G	T	G99622741T	MTTP	NM_001386140.1(MTTP):c.2578G>T:p.Glu860Ter	coding	Pathogenic
4	101025791	T	C	T101025791C	PPP3CA	NM_000944.5(PPP3CA):c.*74A>G	noncoding	Benign
4	101025858	G	T	G101025858T	PPP3CA	NM_000944.5(PPP3CA):c.*7C>A	noncoding	Benign
4	101026006	G	A	G101026006A	PPP3CA	NM_000944.5(PPP3CA):c.1425C>T:p.Gly475=	coding	Benign
4	101029197	T	C	T101029197C	PPP3CA	NM_000944.5(PPP3CA):c.1340-2A>G	noncoding	Pathogenic/Likely_pathogenic
4	101029379	A	C	A101029379C	PPP3CA	NM_000944.5(PPP3CA):c.1340-184T>G	noncoding	Benign
4	101032165	C	T	C101032165T	PPP3CA	NM_000944.5(PPP3CA):c.1339+102G>A	noncoding	Benign
4	101040465	A	G	A101040465G	PPP3CA	NM_000944.5(PPP3CA):c.1241+17T>C	noncoding	Benign
4	101061067	C	A	C101061067A	PPP3CA	NM_000944.5(PPP3CA):c.1156+20G>T	noncoding	Benign
4	101061067	C	G	C101061067G	PPP3CA	NM_000944.5(PPP3CA):c.1156+20G>C	noncoding	Benign
4	101061072	G	C	G101061072C	PPP3CA	NM_000944.5(PPP3CA):c.1156+15C>G	noncoding	Benign
4	101083202	C	T	C101083202T	PPP3CA	NM_000944.5(PPP3CA):c.844G>A:p.Glu282Lys	coding	Pathogenic/Likely_pathogenic
4	101093762	T	G	T101093762G	PPP3CA	NM_000944.5(PPP3CA):c.782+14A>C	noncoding	Benign
4	101093796	C	A	C101093796A	PPP3CA	NM_000944.5(PPP3CA):c.762G>T:p.Arg254Ser	coding	Pathogenic
4	101093856	G	T	G101093856T	PPP3CA	NM_000944.5(PPP3CA):c.702C>A:p.Asp234Glu	coding	Pathogenic
4	101093924	A	C	A101093924C	PPP3CA	NM_000944.5(PPP3CA):c.643-9T>G	noncoding	Benign
4	101098421	C	T	C101098421T	PPP3CA	NM_000944.5(PPP3CA):c.588G>A:p.Leu196=	coding	Benign
4	101098703	G	A	G101098703A	PPP3CA	NM_000944.5(PPP3CA):c.497-191C>T	noncoding	Benign
4	101099600	A	G	A101099600G	PPP3CA	NM_000944.5(PPP3CA):c.496+11T>C	noncoding	Benign
4	101099767	C	T	C101099767T	PPP3CA	NM_000944.5(PPP3CA):c.385-45G>A	noncoding	Benign
4	101108726	G	A	G101108726A	PPP3CA	NM_000944.5(PPP3CA):c.384+228C>T	noncoding	Benign
4	101108936	G	A	G101108936A	PPP3CA	NM_000944.5(PPP3CA):c.384+18C>T	noncoding	Benign
4	101109047	A	G	A101109047G	PPP3CA	NM_000944.5(PPP3CA):c.291T>C:p.Asp97=	coding	Benign
4	101195837	G	A	G101195837A	PPP3CA	NM_000944.5(PPP3CA):c.259+79C>T	noncoding	Benign
4	101195926	C	T	C101195926T	PPP3CA	NM_000944.5(PPP3CA):c.249G>A:p.Ala83=	coding	Benign
4	101196037	T	C	T101196037C	PPP3CA	NM_000944.5(PPP3CA):c.138A>G:p.Leu46=	coding	Benign
4	101196166	A	G	A101196166G	PPP3CA	NM_000944.5(PPP3CA):c.59-50T>C	noncoding	Benign
4	101346664	A	C	A101346664C	PPP3CA	NM_000944.5(PPP3CA):c.58+75T>G	noncoding	Benign
4	101346665	A	G	A101346665G	PPP3CA	NM_000944.5(PPP3CA):c.58+74T>C	noncoding	Benign
4	102253152	C	T	C102253152T	SLC39A8	NM_001135147.1(SLC39A8):c.*270G>A	noncoding	Benign
4	102253164	C	T	C102253164T	SLC39A8	NM_001135147.1(SLC39A8):c.*258G>A	noncoding	Benign
4	102253268	T	C	T102253268C	SLC39A8	NM_001135147.1(SLC39A8):c.*154A>G	noncoding	Benign
4	102253334	A	G	A102253334G	SLC39A8	NM_001135147.1(SLC39A8):c.*88T>C	noncoding	Benign
4	102253571	T	C	T102253571C	SLC39A8	NM_001135147.1(SLC39A8):c.1327-141A>G	noncoding	Benign
4	102253662	G	A	G102253662A	SLC39A8	NM_001135147.1(SLC39A8):c.1327-232C>T	noncoding	Benign
4	102262778	T	C	T102262778C	SLC39A8	NM_001135146.2(SLC39A8):c.*266A>G	coding	Benign
4	102262907	C	T	C102262907T	SLC39A8	NM_001135146.2(SLC39A8):c.*137G>A	coding	Benign
4	102262932	A	G	A102262932G	SLC39A8	NM_001135146.2(SLC39A8):c.*112T>C	coding	Benign
4	102263082	G	A	G102263082A	SLC39A8	NM_001135146.2(SLC39A8):c.1345C>T:p.Leu449Phe	coding	Benign
4	102263144	G	A	G102263144A	SLC39A8	NM_001135146.2(SLC39A8):c.1283C>T:p.Thr428Ile	coding	Pathogenic
4	102267552	C	T	C102267552T	SLC39A8	NM_001135146.2(SLC39A8):c.1171G>A:p.Ala391Thr	coding	Benign
4	102267879	G	A	G102267879A	SLC39A8	NM_001135146.2(SLC39A8):c.1041C>T:p.His347=	coding	Benign
4	102268188	A	G	A102268188G	SLC39A8	NM_001135146.2(SLC39A8):c.841-109T>C	noncoding	Benign
4	102268259	G	A	G102268259A	SLC39A8	NM_001135146.2(SLC39A8):c.841-180C>T	noncoding	Benign
4	102268265	C	A	C102268265A	SLC39A8	NM_001135146.2(SLC39A8):c.841-186G>T	noncoding	Benign
4	102304098	A	C	A102304098C	SLC39A8	NM_001135146.2(SLC39A8):c.840+219T>G	noncoding	Benign
4	102304356	T	C	T102304356C	SLC39A8	NM_001135146.2(SLC39A8):c.801A>G:p.Gly267=	coding	Benign
4	102304547	T	C	T102304547C	SLC39A8	NM_001135146.2(SLC39A8):c.676-66A>G	noncoding	Benign
4	102304790	T	A	T102304790A	SLC39A8	NM_001135146.2(SLC39A8):c.675+199A>T	noncoding	Benign
4	102304832	A	G	A102304832G	SLC39A8	NM_001135146.2(SLC39A8):c.675+157T>C	noncoding	Benign
4	102307200	G	C	G102307200C	SLC39A8	NM_001135146.2(SLC39A8):c.552+236C>G	noncoding	Benign
4	102307388	G	A	G102307388A	SLC39A8	NM_001135146.2(SLC39A8):c.552+48C>T	noncoding	Benign
4	102307577	C	T	C102307577T	SLC39A8	NM_001135146.2(SLC39A8):c.411G>A:p.Thr137=	coding	Benign
4	102307673	C	T	C102307673T	SLC39A8	NM_001135146.2(SLC39A8):c.383-68G>A	noncoding	Benign
4	102307819	G	A	G102307819A	SLC39A8	NM_001135146.2(SLC39A8):c.383-214C>T	noncoding	Benign
4	102344186	A	C	A102344186C	SLC39A8	NM_001135146.2(SLC39A8):c.219+258T>G	noncoding	Benign
4	102344374	C	G	C102344374G	SLC39A8	NM_001135146.2(SLC39A8):c.219+70G>C	noncoding	Benign
4	102344551	C	G	C102344551G	SLC39A8	NM_001135146.2(SLC39A8):c.112G>C:p.Gly38Arg	coding	Pathogenic/Likely_pathogenic
4	102345022	A	C	A102345022C	SLC39A8	NM_001135146.2(SLC39A8):c.-253-107T>G	noncoding	Benign
4	102510933	A	G	A102510933G	NFKB1	NM_003998.4(NFKB1):c.-8+9145A>G	noncoding	Benign
4	102525542	G	A	G102525542A	NFKB1	NM_003998.4(NFKB1):c.24G>A:p.Leu8=	coding	Benign
4	102525574	C	G	C102525574G	NFKB1	NM_003998.4(NFKB1):c.39+17C>G	noncoding	Benign
4	102534190	C	T	C102534190T	NFKB1	NM_003998.4(NFKB1):c.159+305C>T	noncoding	Benign
4	102537668	A	G	A102537668G	NFKB1	NM_003998.4(NFKB1):c.160-190A>G	noncoding	Benign
4	102537720	G	A	G102537720A	NFKB1	NM_003998.4(NFKB1):c.160-138G>A	noncoding	Benign
4	102537843	C	T	C102537843T	NFKB1	NM_003998.4(NFKB1):c.160-15C>T	noncoding	Benign
4	102537844	G	A	G102537844A	NFKB1	NM_003998.4(NFKB1):c.160-14G>A	noncoding	Benign
4	102566825	A	T	A102566825T	NFKB1	NM_003998.4(NFKB1):c.259-162A>T	noncoding	Benign
4	102566972	G	T	G102566972T	NFKB1	NM_003998.4(NFKB1):c.259-15G>T	noncoding	Benign
4	102566974	G	T	G102566974T	NFKB1	NM_003998.4(NFKB1):c.259-13G>T	noncoding	Benign
4	102567013	G	A	G102567013A	NFKB1	NM_003998.4(NFKB1):c.285G>A:p.Lys95=	coding	Benign
4	102567137	T	G	T102567137G	NFKB1	NM_003998.4(NFKB1):c.407+2T>G	noncoding	Pathogenic
4	102567334	G	A	G102567334A	NFKB1	NM_003998.4(NFKB1):c.407+199G>A	noncoding	Benign
4	102576628	G	A	G102576628A	NFKB1	NM_003998.4(NFKB1):c.408-248G>A	noncoding	Benign
4	102576718	A	T	A102576718T	NFKB1	NM_003998.4(NFKB1):c.408-158A>T	noncoding	Benign
4	102576937	C	T	C102576937T	NFKB1	NM_003998.4(NFKB1):c.469C>T:p.Arg157Ter	coding	Pathogenic
4	102577298	T	C	T102577298C	NFKB1	NM_003998.4(NFKB1):c.571+259T>C	noncoding	Benign
4	102580652	T	C	T102580652C	NFKB1	NM_003998.4(NFKB1):c.835+13T>C	noncoding	Benign
4	102582667	G	C	G102582667C	NFKB1	NM_003998.4(NFKB1):c.836-199G>C	noncoding	Benign
4	102584708	G	A	G102584708A	NFKB1	NM_003998.4(NFKB1):c.954G>A:p.Lys318=	coding	Benign
4	102584758	G	A	G102584758A	NFKB1	NM_003998.4(NFKB1):c.1004G>A:p.Arg335Gln	coding	Benign
4	102584804	C	T	C102584804T	NFKB1	NM_003998.4(NFKB1):c.1050C>T:p.Tyr350=	coding	Benign
4	102586546	G	C	G102586546C	NFKB1	NM_003998.4(NFKB1):c.1066+1726G>C	noncoding	Benign
4	102593288	C	G	C102593288G	NFKB1	NM_003998.4(NFKB1):c.1067-137C>G	noncoding	Benign
4	102593474	G	A	G102593474A	NFKB1	NM_003998.4(NFKB1):c.1116G>A:p.Ser372=	coding	Benign
4	102593501	T	C	T102593501C	NFKB1	NM_003998.4(NFKB1):c.1143T>C:p.Ala381=	coding	Benign
4	102593513	C	T	C102593513T	NFKB1	NM_003998.4(NFKB1):c.1155C>T:p.Gly385=	coding	Benign
4	102593580	C	T	C102593580T	NFKB1	NM_003998.4(NFKB1):c.1210+12C>T	noncoding	Benign
4	102593584	T	C	T102593584C	NFKB1	NM_003998.4(NFKB1):c.1210+16T>C	noncoding	Benign
4	102593836	A	G	A102593836G	NFKB1	NM_003998.4(NFKB1):c.1210+268A>G	noncoding	Benign
4	102594905	A	G	A102594905G	NFKB1	NM_003998.4(NFKB1):c.1224A>G:p.Pro408=	coding	Benign
4	102596253	C	T	C102596253T	NFKB1	NM_003998.4(NFKB1):c.1416C>T:p.Pro472=	coding	Benign
4	102597148	A	G	A102597148G	NFKB1	NM_003998.4(NFKB1):c.1496-372A>G	noncoding	Benign
4	102597322	C	A	C102597322A	NFKB1	NM_003998.4(NFKB1):c.1496-198C>A	noncoding	Benign
4	102597587	G	A	G102597587A	NFKB1	NM_003998.4(NFKB1):c.1563G>A:p.Ala521=	coding	Benign
4	102597673	C	G	C102597673G	NFKB1	NM_003998.4(NFKB1):c.1637+12C>G	noncoding	Benign
4	102606542	A	C	A102606542C	NFKB1	NM_003998.4(NFKB1):c.1799A>C:p.Glu600Ala	coding	Benign
4	102606710	C	A	C102606710A	NFKB1	NM_003998.4(NFKB1):c.1954+13C>A	noncoding	Benign
4	102606719	T	C	T102606719C	NFKB1	NM_003998.4(NFKB1):c.1954+22T>C	noncoding	Benign
4	102607187	C	T	C102607187T	NFKB1	NM_003998.4(NFKB1):c.1992C>T:p.Ser664=	coding	Benign
4	102610612	T	A	T102610612A	NFKB1	NM_003998.4(NFKB1):c.2265T>A:p.Tyr755Ter	coding	Pathogenic
4	102612038	C	T	C102612038T	NFKB1	NM_003998.4(NFKB1):c.2353-6C>T	noncoding	Benign
4	102612073	T	G	T102612073G	NFKB1	NM_003998.4(NFKB1):c.2382T>G:p.Tyr794Ter	coding	Pathogenic
4	102612453	T	C	T102612453C	NFKB1	NM_003998.4(NFKB1):c.2439T>C:p.Ala813=	coding	Benign
4	102612664	T	A	T102612664A	NFKB1	NM_003998.4(NFKB1):c.2592+58T>A	noncoding	Benign
4	102613400	C	T	C102613400T	NFKB1	NM_003998.4(NFKB1):c.2593-25C>T	noncoding	Benign
4	102613403	C	G	C102613403G	NFKB1	NM_003998.4(NFKB1):c.2593-22C>G	noncoding	Benign
4	102613585	A	C	A102613585C	NFKB1	NM_003998.4(NFKB1):c.2749+4A>C	noncoding	Benign
4	102616285	C	T	C102616285T	NFKB1	NM_003998.4(NFKB1):c.2750-149C>T	noncoding	Benign
4	102616462	C	T	C102616462T	NFKB1	NM_003998.4(NFKB1):c.2778C>T:p.Cys926=	coding	Benign
4	102632224	C	A	C102632224A	MANBA	NM_005908.4(MANBA):c.2473G>T:p.Ala825Ser	coding	Benign
4	102634769	C	T	C102634769T	MANBA	NM_005908.4(MANBA):c.2415+19G>A	noncoding	Benign
4	102635992	C	T	C102635992T	MANBA	NM_005908.4(MANBA):c.2030G>A:p.Trp677Ter	coding	Pathogenic
4	102639588	A	T	A102639588T	MANBA	NM_005908.4(MANBA):c.2014+125T>A	noncoding	Benign
4	102639699	G	A	G102639699A	MANBA	NM_005908.4(MANBA):c.2014+14C>T	noncoding	Benign
4	102650702	C	T	C102650702T	MANBA	NM_005908.4(MANBA):c.1705-1G>A	coding	Pathogenic
4	102657480	G	A	G102657480A	MANBA	NM_005908.4(MANBA):c.1704+202C>T	noncoding	Benign
4	102657758	C	T	C102657758T	MANBA	NM_005908.4(MANBA):c.1628G>A:p.Trp543Ter	coding	Pathogenic
4	102657874	C	T	C102657874T	MANBA	NM_005908.4(MANBA):c.1512G>A:p.Thr504=	coding	Benign
4	102665820	C	T	C102665820T	MANBA	NM_005908.4(MANBA):c.1318-968G>A	noncoding	Benign
4	102668856	C	A	C102668856A	MANBA	NM_005908.4(MANBA):c.1317+107G>T	noncoding	Benign
4	102668857	A	T	A102668857T	MANBA	NM_005908.4(MANBA):c.1317+106T>A	noncoding	Benign
4	102668892	C	G	C102668892G	MANBA	NM_005908.4(MANBA):c.1317+71G>C	noncoding	Benign
4	102671495	A	G	A102671495G	MANBA	NM_005908.4(MANBA):c.1113-97T>C	noncoding	Benign
4	102673761	T	C	T102673761C	MANBA	NM_005908.4(MANBA):c.1112+158A>G	noncoding	Benign
4	102673781	G	A	G102673781A	MANBA	NM_005908.4(MANBA):c.1112+138C>T	noncoding	Benign
4	102673793	G	A	G102673793A	MANBA	NM_005908.4(MANBA):c.1112+126C>T	noncoding	Benign
4	102674132	A	T	A102674132T	MANBA	NM_005908.4(MANBA):c.961-62T>A	noncoding	Benign
4	102674371	C	T	C102674371T	MANBA	NM_005908.4(MANBA):c.961-301G>A	noncoding	Benign
4	102689361	T	A	T102689361A	MANBA	NM_005908.4(MANBA):c.960+213A>T	noncoding	Benign
4	102689380	G	A	G102689380A	MANBA	NM_005908.4(MANBA):c.960+194C>T	noncoding	Benign
4	102690376	A	T	A102690376T	MANBA	NM_005908.4(MANBA):c.849+220T>A	noncoding	Benign
4	102690861	G	T	G102690861T	MANBA	NM_005908.4(MANBA):c.674-90C>A	noncoding	Benign
4	102690886	T	C	T102690886C	MANBA	NM_005908.4(MANBA):c.674-115A>G	noncoding	Benign
4	102690980	G	A	G102690980A	MANBA	NM_005908.4(MANBA):c.674-209C>T	noncoding	Benign
4	102714183	C	A	C102714183A	MANBA	NM_005908.4(MANBA):c.673+255G>T	noncoding	Benign
4	102723961	C	T	C102723961T	MANBA	NM_005908.4(MANBA):c.279G>A:p.Trp93Ter	coding	Pathogenic
4	102726404	A	G	A102726404G	MANBA	NM_005908.4(MANBA):c.272+185T>C	noncoding	Benign
4	102726528	C	A	C102726528A	MANBA	NM_005908.4(MANBA):c.272+61G>T	noncoding	Benign
4	102760535	C	T	C102760535T	MANBA	NM_005908.4(MANBA):c.177+183G>A	noncoding	Benign
4	102885352	G	A	G102885352A	CISD2	NM_001008388.5(CISD2):c.240G>A:p.Pro80_Lys81=	coding	Benign
4	102885450	G	A	G102885450A	CISD2	NM_001008388.5(CISD2):c.318+20G>A	noncoding	Benign
4	103106487	G	A	G103106487A	CENPE	NM_001813.3(CENPE):c.8012-171C>T	noncoding	Benign
4	103108582	G	C	G103108582C	CENPE	NM_001813.3(CENPE):c.8011+221C>G	noncoding	Benign
4	103111107	G	A	G103111107A	CENPE	NM_001813.3(CENPE):c.7541-96C>T	noncoding	Benign
4	103120136	T	C	T103120136C	CENPE	NM_001813.3(CENPE):c.7329+12A>G	noncoding	Benign
4	103133529	A	G	A103133529G	CENPE	NM_001813.3(CENPE):c.6720+166T>C	noncoding	Benign
4	103135964	C	T	C103135964T	CENPE	NM_001813.3(CENPE):c.6522+177G>A	noncoding	Benign
4	103136091	G	A	G103136091A	CENPE	NM_001813.3(CENPE):c.6522+50C>T	noncoding	Benign
4	103138385	G	A	G103138385A	CENPE	NM_001813.3(CENPE):c.6269C>T:p.Thr2090Met	coding	Benign
4	103138666	A	G	A103138666G	CENPE	NM_001813.3(CENPE):c.6205-217T>C	noncoding	Benign
4	103139524	A	T	A103139524T	CENPE	NM_001813.3(CENPE):c.6204+265T>A	noncoding	Benign
4	103139624	C	T	C103139624T	CENPE	NM_001813.3(CENPE):c.6204+165G>A	noncoding	Benign
4	103140109	G	A	G103140109A	CENPE	NM_001813.3(CENPE):c.5914-30C>T	noncoding	Benign
4	103140194	T	C	T103140194C	CENPE	NM_001813.3(CENPE):c.5913+62A>G	noncoding	Benign
4	103140226	C	A	C103140226A	CENPE	NM_001813.3(CENPE):c.5913+30G>T	noncoding	Benign
4	103140394	T	G	T103140394G	CENPE	NM_001813.3(CENPE):c.5775A>C:p.Glu1925Asp	coding	Benign
4	103140605	T	C	T103140605C	CENPE	NM_001813.3(CENPE):c.5755-191A>G	noncoding	Benign
4	103140836	C	G	C103140836G	CENPE	NM_001813.3(CENPE):c.5732G>C:p.Ser1911Thr	coding	Benign
4	103141066	C	T	C103141066T	CENPE	NM_001813.3(CENPE):c.5502G>A:p.Thr1834=	coding	Benign
4	103141257	T	C	T103141257C	CENPE	NM_001813.3(CENPE):c.5464-153A>G	noncoding	Benign
4	103141914	C	T	C103141914T	CENPE	NM_001813.3(CENPE):c.5305-6G>A	noncoding	Benign
4	103142224	A	T	A103142224T	CENPE	NM_001813.3(CENPE):c.5305-316T>A	noncoding	Benign
4	103142982	C	T	C103142982T	CENPE	NM_001813.3(CENPE):c.5304+266G>A	noncoding	Benign
4	103144023	G	A	G103144023A	CENPE	NM_001813.3(CENPE):c.5145+308C>T	noncoding	Benign
4	103144892	C	T	C103144892T	CENPE	NM_001813.3(CENPE):c.4857+158G>A	noncoding	Benign
4	103145304	A	G	A103145304G	CENPE	NM_001813.3(CENPE):c.4603T>C:p.Phe1535Leu	coding	Benign
4	103145733	T	A	T103145733A	CENPE	NM_001813.3(CENPE):c.4414-52A>T	noncoding	Benign
4	103147134	A	T	A103147134T	CENPE	NM_001813.3(CENPE):c.4134+222T>A	noncoding	Benign
4	103147741	G	T	G103147741T	CENPE	NM_001813.3(CENPE):c.3844-95C>A	noncoding	Benign
4	103148665	C	T	C103148665T	CENPE	NM_001813.3(CENPE):c.3843+179G>A	noncoding	Benign
4	103149709	A	G	A103149709G	CENPE	NM_001813.3(CENPE):c.3397-301T>C	noncoding	Benign
4	103151164	C	A	C103151164A	CENPE	NM_001813.3(CENPE):c.3396+55G>T	noncoding	Benign
4	103158267	C	T	C103158267T	CENPE	NM_001813.3(CENPE):c.3033+33G>A	noncoding	Benign
4	103160451	T	A	T103160451A	CENPE	NM_001813.3(CENPE):c.2286+174A>T	noncoding	Benign
4	103160551	A	G	A103160551G	CENPE	NM_001813.3(CENPE):c.2286+74T>C	noncoding	Benign
4	103160763	C	T	C103160763T	CENPE	NM_001813.3(CENPE):c.2148G>A:p.Leu716=	coding	Benign
4	103161192	C	T	C103161192T	CENPE	NM_001813.3(CENPE):c.2025G>A:p.Gln675=	coding	Benign
4	103161681	G	A	G103161681A	CENPE	NM_001813.3(CENPE):c.1843-224C>T	noncoding	Benign
4	103163370	T	A	T103163370A	CENPE	NM_001813.3(CENPE):c.1722+109A>T	noncoding	Benign
4	103163781	C	A	C103163781A	CENPE	NM_001813.3(CENPE):c.1648-228G>T	noncoding	Benign
4	103174906	A	G	A103174906G	CENPE	NM_001813.3(CENPE):c.1480-3T>C	noncoding	Benign
4	103176704	C	T	C103176704T	CENPE	NM_001813.3(CENPE):c.1390+195G>A	noncoding	Benign
4	103177142	G	C	G103177142C	CENPE	NM_001813.3(CENPE):c.1243-96C>G	noncoding	Benign
4	103180566	G	A	G103180566A	CENPE	NM_001813.3(CENPE):c.1084-97C>T	noncoding	Benign
4	103181406	T	C	T103181406C	CENPE	NM_001813.3(CENPE):c.1014A>G:p.Val338=	coding	Benign
4	103182740	C	T	C103182740T	CENPE	NM_001813.3(CENPE):c.963+22G>A	noncoding	Benign
4	103183082	A	G	A103183082G	CENPE	NM_001813.3(CENPE):c.833+119T>C	noncoding	Benign
4	103185580	G	A	G103185580A	CENPE	NM_001813.3(CENPE):c.745+230C>T	noncoding	Benign
4	103185886	C	T	C103185886T	CENPE	NM_001813.3(CENPE):c.694-25G>A	noncoding	Benign
4	103193954	G	T	G103193954T	CENPE	NM_001813.3(CENPE):c.693+275C>A	noncoding	Benign
4	103194042	C	T	C103194042T	CENPE	NM_001813.3(CENPE):c.693+187G>A	noncoding	Benign
4	103196034	A	G	A103196034G	CENPE	NM_001813.3(CENPE):c.243T>C:p.Thr81=	coding	Benign
4	103196062	C	T	C103196062T	CENPE	NM_001813.3(CENPE):c.239-24G>A	noncoding	Benign
4	103196742	T	C	T103196742C	CENPE	NM_001813.3(CENPE):c.148+17A>G	noncoding	Benign
4	103197066	C	T	C103197066T	CENPE	NM_001813.3(CENPE):c.57-216G>A	noncoding	Benign
4	103198417	C	T	C103198417T	CENPE	Single_allele	noncoding	Benign
4	103198430	C	T	C103198430T	CENPE	Single_allele	noncoding	Benign
4	103198600	G	A	G103198600A	CENPE	Single_allele	noncoding	Benign
4	103591294	T	C	T103591294C	TACR3	NM_001059.3(TACR3):c.1085+193A>G	noncoding	Benign
4	103591331	G	T	G103591331T	TACR3	NM_001059.3(TACR3):c.1085+156C>A	noncoding	Benign
4	103591471	G	A	G103591471A	TACR3	NM_001059.3(TACR3):c.1085+16C>T	noncoding	Benign
4	103658517	G	T	G103658517T	TACR3	NM_001059.3(TACR3):c.549-114C>A	noncoding	Benign
4	103658553	C	T	C103658553T	TACR3	NM_001059.3(TACR3):c.549-150G>A	noncoding	Benign
4	103718840	C	T	C103718840T	TACR3	NM_001059.3(TACR3):c.548+288G>A	noncoding	Benign
4	103719373	C	T	C103719373T	TACR3	NM_001059.3(TACR3):c.303G>A:p.Leu101=	coding	Benign
4	105234594	G	A	G105234594A	TET2	NM_001127208.3(TET2):c.652G>A:p.Val218Met	coding	Benign
4	105236327	C	T	C105236327T	TET2	NM_001127208.3(TET2):c.2385C>T:p.Ser795=	coding	Benign
4	105236546	T	G	T105236546G	TET2	NM_001127208.3(TET2):c.2604T>G:p.Phe868Leu	coding	Benign
4	105242895	A	T	A105242895T	TET2	NM_001127208.3(TET2):c.3562A>T:p.Lys1188Ter	coding	Pathogenic
4	105242922	A	G	A105242922G	TET2;TET2-AS1	NM_001127208.3(TET2):c.3589A>G:p.Lys1197Glu	coding	Pathogenic
4	105243127	T	G	T105243127G	TET2	NM_001127208.3(TET2):c.3594+200T>G	noncoding	Benign
4	105274935	C	T	C105274935T	TET2	NM_001127208.3(TET2):c.4538-113C>T	noncoding	Benign
4	105275404	C	T	C105275404T	TET2	NM_001127208.3(TET2):c.4894C>T:p.Gln1632Ter	coding	Pathogenic
4	105275794	A	G	A105275794G	TET2	NM_001127208.3(TET2):c.5284A>G:p.Ile1762Val	coding	Benign
4	105370525	T	C	T105370525C	PPA2	NM_176869.3(PPA2):c.976+312A>G	noncoding	Benign
4	105370605	C	T	C105370605T	PPA2	NM_176869.3(PPA2):c.976+232G>A	noncoding	Benign
4	105370667	G	A	G105370667A	PPA2	NM_176869.3(PPA2):c.976+170C>T	noncoding	Benign
4	105370952	G	A	G105370952A	PPA2	NM_176869.3(PPA2):c.940-79C>T	noncoding	Benign
4	105370964	G	C	G105370964C	PPA2	NM_176869.3(PPA2):c.940-91C>G	noncoding	Benign
4	105371151	G	A	G105371151A	PPA2	NM_176869.3(PPA2):c.940-278C>T	noncoding	Benign
4	105371192	T	C	T105371192C	PPA2	NM_176869.3(PPA2):c.940-319A>G	noncoding	Benign
4	105386276	G	A	G105386276A	PPA2	NM_176869.3(PPA2):c.939+291C>T	noncoding	Benign
4	105386281	T	C	T105386281C	PPA2	NM_176869.3(PPA2):c.939+286A>G	noncoding	Benign
4	105386411	T	C	T105386411C	PPA2	NM_176869.3(PPA2):c.939+156A>G	noncoding	Benign
4	105386550	G	A	G105386550A	PPA2	NM_176869.3(PPA2):c.939+17C>T	noncoding	Benign/Likely_benign
4	105395959	C	T	C105395959T	PPA2	NM_176869.3(PPA2):c.869+290G>A	noncoding	Benign
4	105396272	C	G	C105396272G	PPA2	NM_176869.3(PPA2):c.846G>C:p.Lys282Asn	coding	Benign
4	105399242	G	C	G105399242C	PPA2	NM_176869.3(PPA2):c.656-78C>G	noncoding	Benign
4	105399289	G	A	G105399289A	PPA2	NM_176869.3(PPA2):c.656-125C>T	noncoding	Benign
4	105399310	T	C	T105399310C	PPA2	NM_176869.3(PPA2):c.656-146A>G	noncoding	Benign
4	105399375	T	C	T105399375C	PPA2	NM_176869.3(PPA2):c.656-211A>G	noncoding	Benign
4	105399432	G	A	G105399432A	PPA2	NM_176869.3(PPA2):c.656-268C>T	noncoding	Benign
4	105399492	T	G	T105399492G	PPA2	NM_176869.3(PPA2):c.656-328A>C	noncoding	Benign
4	105423968	A	G	A105423968G	PPA2	NM_176869.3(PPA2):c.655+228T>C	noncoding	Benign
4	105437931	T	C	T105437931C	PPA2	NM_176869.3(PPA2):c.528+19A>G	noncoding	Benign
4	105438001	C	T	C105438001T	PPA2	NM_176869.3(PPA2):c.477G>A:p.Thr159=	coding	Benign
4	105438051	T	A	T105438051A	PPA2	NM_176869.3(PPA2):c.442-15A>T	noncoding	Benign
4	105438052	T	A	T105438052A	PPA2	NM_176869.3(PPA2):c.442-16A>T	noncoding	Benign
4	105438053	A	T	A105438053T	PPA2	NM_176869.3(PPA2):c.442-17T>A	noncoding	Benign
4	105438236	A	G	A105438236G	PPA2	NM_176869.3(PPA2):c.442-200T>C	noncoding	Benign
4	105446204	T	G	T105446204G	PPA2	NM_176869.3(PPA2):c.441+179A>C	noncoding	Benign
4	105446369	A	C	A105446369C	PPA2	NM_176869.3(PPA2):c.441+14T>G	noncoding	Benign
4	105446378	G	C	G105446378C	PPA2	NM_176869.3(PPA2):c.441+5C>G	noncoding	Benign/Likely_benign
4	105446539	T	C	T105446539C	PPA2	NM_176869.3(PPA2):c.322-37A>G	noncoding	Benign
4	105446640	G	T	G105446640T	PPA2	NM_176869.3(PPA2):c.322-138C>A	noncoding	Benign
4	105449422	C	A	C105449422A	PPA2	NM_176869.3(PPA2):c.268-19G>T	noncoding	Benign
4	105449482	A	G	A105449482G	PPA2	NM_176869.3(PPA2):c.268-79T>C	noncoding	Benign
4	105449659	A	T	A105449659T	PPA2	NM_176869.3(PPA2):c.268-256T>A	noncoding	Benign
4	105449717	A	G	A105449717G	PPA2	NM_176869.3(PPA2):c.268-314T>C	noncoding	Benign
4	105453421	T	A	T105453421A	PPA2	NM_176869.3(PPA2):c.267+177A>T	noncoding	Benign
4	105453614	C	T	C105453614T	PPA2	NM_176869.3(PPA2):c.251G>A:p.Arg84Gln	coding	Benign/Likely_benign
4	105456497	T	C	T105456497C	PPA2	NM_176869.3(PPA2):c.222+184A>G	noncoding	Benign
4	105456845	G	C	G105456845C	PPA2	NM_176869.3(PPA2):c.158-100C>G	noncoding	Benign
4	105456870	C	T	C105456870T	PPA2	NM_176869.3(PPA2):c.158-125G>A	noncoding	Benign
4	105473635	C	T	C105473635T	PPA2	NM_176869.3(PPA2):c.157+259G>A	noncoding	Benign
4	105473769	G	A	G105473769A	PPA2	NM_176869.3(PPA2):c.157+125C>T	noncoding	Benign
4	105473987	T	C	T105473987C	PPA2	NM_176869.3(PPA2):c.64A>G:p.Thr22Ala	coding	Benign/Likely_benign
4	105474024	G	A	G105474024A	PPA2	NM_176869.3(PPA2):c.27C>T:p.Arg9=	coding	Benign
4	105474143	C	T	C105474143T	PPA2	Single_allele	noncoding	Benign
4	106095574	C	A	C106095574A	TBCK	NM_001163435.3(TBCK):c.2479G>T:p.Glu827Ter	coding	Pathogenic
4	106095607	T	G	T106095607G	TBCK	NM_001163435.3(TBCK):c.2446A>C:p.Ile816Leu	coding	Benign
4	106115998	G	C	G106115998C	TBCK	NM_001163435.3(TBCK):c.2411+205C>G	noncoding	Benign
4	106116473	C	T	C106116473T	TBCK	NM_001163435.3(TBCK):c.2236-95G>A	noncoding	Benign
4	106116498	A	G	A106116498G	TBCK	NM_001163435.3(TBCK):c.2236-120T>C	noncoding	Benign
4	106171012	A	G	A106171012G	TBCK	NM_001163435.3(TBCK):c.2235+83T>C	noncoding	Benign
4	106171200	G	C	G106171200C	TBCK	NM_001163435.3(TBCK):c.2130C>G:p.Tyr710Ter	coding	Pathogenic
4	106171272	T	C	T106171272C	TBCK	NM_001163435.3(TBCK):c.2060-2A>G	noncoding	Pathogenic/Likely_pathogenic
4	106171276	T	C	T106171276C	TBCK	NM_001163435.3(TBCK):c.2060-6A>G	noncoding	Benign
4	106193790	C	A	C106193790A	TBCK	NM_001163435.3(TBCK):c.1898-20G>T	noncoding	Benign
4	106194508	C	A	C106194508A	TBCK	NM_001163435.3(TBCK):c.1897+210G>T	noncoding	Benign
4	106194527	T	C	T106194527C	TBCK	NM_001163435.3(TBCK):c.1897+191A>G	noncoding	Benign
4	106194700	G	A	G106194700A	TBCK	NM_001163435.3(TBCK):c.1897+18C>T	noncoding	Benign
4	106194803	A	G	A106194803G	TBCK	NM_001163435.3(TBCK):c.1861-49T>C	noncoding	Benign
4	106212762	A	G	A106212762G	TBCK	NM_001163435.3(TBCK):c.1848T>C:p.Gly616=	coding	Benign
4	106230430	A	G	A106230430G	TBCK	NM_001163435.3(TBCK):c.1707T>C:p.Cys569=	coding	Benign
4	106232942	C	T	C106232942T	TBCK	NM_001163435.3(TBCK):c.1635G>A:p.Trp545Ter	coding	Pathogenic
4	106232969	T	C	T106232969C	TBCK	NM_001163435.3(TBCK):c.1608A>G:p.Val536=	coding	Benign
4	106232972	C	T	C106232972T	TBCK	NM_001163435.3(TBCK):c.1605G>A:p.Trp535Ter	coding	Pathogenic
4	106232973	C	T	C106232973T	TBCK	NM_001163435.3(TBCK):c.1604G>A:p.Trp535Ter	coding	Pathogenic
4	106233116	T	C	T106233116C	TBCK	NM_001163435.3(TBCK):c.1513-52A>G	noncoding	Benign
4	106233575	A	G	A106233575G	TBCK	NM_001163435.3(TBCK):c.1512+13T>C	noncoding	Benign
4	106233695	T	C	T106233695C	TBCK	NM_001163435.3(TBCK):c.1450-45A>G	noncoding	Benign
4	106235208	C	G	C106235208G	TBCK	NM_001163435.3(TBCK):c.1449+61G>C	noncoding	Benign
4	106235305	C	T	C106235305T	TBCK	NM_001163435.3(TBCK):c.1413G>A:p.Met471Ile	coding	Benign
4	106235478	T	C	T106235478C	TBCK	NM_001163435.3(TBCK):c.1351-111A>G	noncoding	Benign
4	106236466	G	A	G106236466A	TBCK	NM_001163435.3(TBCK):c.1274C>T:p.Thr425Met	coding	Benign
4	106236991	C	A	C106236991A	TBCK	NM_001163435.3(TBCK):c.1171-183G>T	noncoding	Benign
4	106242401	C	T	C106242401T	TBCK	NM_001163435.3(TBCK):c.1170+69G>A	noncoding	Benign
4	106242616	T	C	T106242616C	TBCK	NM_001163435.3(TBCK):c.1071-47A>G	noncoding	Benign
4	106244528	T	A	T106244528A	TBCK	NM_001163435.3(TBCK):c.1070+98A>T	noncoding	Benign
4	106244775	C	T	C106244775T	TBCK	NM_001163435.3(TBCK):c.932-11G>A	noncoding	Benign
4	106246944	C	G	C106246944G	TBCK	NM_001163435.3(TBCK):c.931+195G>C	noncoding	Benign
4	106247363	G	T	G106247363T	TBCK	NM_001163435.3(TBCK):c.783-76C>A	noncoding	Benign
4	106247371	A	G	A106247371G	TBCK	NM_001163435.3(TBCK):c.783-84T>C	noncoding	Benign
4	106250409	G	C	G106250409C	TBCK	NM_001163435.3(TBCK):c.658+9C>G	noncoding	Benign
4	106250418	C	T	C106250418T	TBCK	NM_001163435.3(TBCK):c.658G>A:p.Asp220Asn	coding	Benign
4	106250490	G	A	G106250490A	TBCK	NM_001163435.3(TBCK):c.598-12C>T	noncoding	Benign
4	106250505	T	C	T106250505C	TBCK	NM_001163435.3(TBCK):c.598-27A>G	noncoding	Benign
4	106251644	T	C	T106251644C	TBCK	NM_001163435.3(TBCK):c.597+222A>G	noncoding	Benign
4	106252188	A	T	A106252188T	TBCK	NM_001163435.3(TBCK):c.456-181T>A	noncoding	Benign
4	106260459	C	T	C106260459T	TBCK	NM_001163435.3(TBCK):c.433G>A:p.Asp145Asn	coding	Benign
4	106262097	C	T	C106262097T	TBCK	NM_001163435.3(TBCK):c.381+1G>A	noncoding	Pathogenic
4	106262175	G	A	G106262175A	TBCK	NM_001163435.3(TBCK):c.304C>T:p.Gln102Ter	coding	Pathogenic/Likely_pathogenic
4	106294955	T	C	T106294955C	TBCK	NM_001163435.3(TBCK):c.266+139A>G	noncoding	Benign
4	106295113	G	A	G106295113A	TBCK	NM_001163435.3(TBCK):c.247C>T:p.Arg83Ter	coding	Pathogenic
4	106295164	G	A	G106295164A	TBCK	NM_001163435.3(TBCK):c.196C>T:p.Arg66Ter	coding	Pathogenic
4	106295259	C	T	C106295259T	TBCK	NM_001163435.3(TBCK):c.194-93G>A	noncoding	Benign
4	106309206	T	C	T106309206C	TBCK	NM_001163435.3(TBCK):c.-29-217A>G	noncoding	Benign
4	106316238	C	T	C106316238T	AIMP1	NM_033115.4(TBCK):c.-337G>A	noncoding	Benign
4	106316331	C	T	C106316331T	AIMP1	NM_004757.4(AIMP1):c.-39C>T	noncoding	Benign
4	106316858	A	G	A106316858G	AIMP1	NM_001142416.2(AIMP1):c.-26+264A>G	noncoding	Benign
4	106324979	C	A	C106324979A	AIMP1	NM_001142416.2(AIMP1):c.-25-6C>A	noncoding	Benign
4	106325033	G	C	G106325033C	AIMP1	NM_001142416.2(AIMP1):c.24G>C:p.Leu8=	coding	Benign
4	106325091	C	T	C106325091T	AIMP1	NM_001142416.2(AIMP1):c.82C>T:p.Gln28Ter	coding	Pathogenic
4	106327733	T	C	T106327733C	AIMP1	NM_001142416.2(AIMP1):c.223+169T>C	noncoding	Benign
4	106328087	C	G	C106328087G	AIMP1	NM_001142416.2(AIMP1):c.235C>G:p.Pro79Ala	coding	Benign
4	106331906	C	T	C106331906T	AIMP1	NM_001142416.2(AIMP1):c.603+23C>T	noncoding	Benign
4	106336818	A	T	A106336818T	AIMP1	NM_001142416.2(AIMP1):c.604-51A>T	noncoding	Benign
4	106337070	C	T	C106337070T	AIMP1	NM_001142416.2(AIMP1):c.772+33C>T	noncoding	Benign
4	106337071	G	A	G106337071A	AIMP1	NM_001142416.2(AIMP1):c.772+34G>A	noncoding	Benign
4	106347331	C	A	C106347331A	AIMP1	NM_001142416.2(AIMP1):c.773-195C>A	noncoding	Benign
4	106347792	A	G	A106347792G	AIMP1	NM_001142416.2(AIMP1):c.*100A>G	noncoding	Benign
4	106347896	A	G	A106347896G	AIMP1	NM_001142416.2(AIMP1):c.*204A>G	noncoding	Benign
4	107895615	C	T	C107895615T	SGMS2	NM_001375905.1(SGMS2):c.62C>T:p.Thr21Met	coding	Benign
4	107895701	C	T	C107895701T	SGMS2	NM_001375905.1(SGMS2):c.148C>T:p.Arg50Ter	coding	Pathogenic/Likely_pathogenic
4	107895724	G	A	G107895724A	SGMS2	NM_001375905.1(SGMS2):c.171G>A:p.Pro57=	coding	Benign
4	107896022	A	C	A107896022C	SGMS2	NM_001375905.1(SGMS2):c.455+14A>C	noncoding	Benign
4	107903083	G	A	G107903083A	SGMS2	NM_001375905.1(SGMS2):c.574-150G>A	noncoding	Benign
4	107903173	G	C	G107903173C	SGMS2	NM_001375905.1(SGMS2):c.574-60G>C	noncoding	Benign
4	107903499	G	A	G107903499A	SGMS2	NM_001375905.1(SGMS2):c.727+113G>A	noncoding	Benign
4	107903511	A	G	A107903511G	SGMS2	NM_001375905.1(SGMS2):c.727+125A>G	noncoding	Benign
4	107908360	C	T	C107908360T	SGMS2	NM_001375905.1(SGMS2):c.728-205C>T	noncoding	Benign
4	107931403	T	C	T107931403C	CYP2U1	Single_allele	noncoding	Benign
4	107931574	C	T	C107931574T	CYP2U1	NM_183075.3(CYP2U1):c.-70C>T	noncoding	Benign
4	107931644	A	C	A107931644C	CYP2U1	NM_183075.3(CYP2U1):c.1A>C:p.Met1Leu	coding	Pathogenic
4	107931986	G	A	G107931986A	CYP2U1	NM_183075.3(CYP2U1):c.343G>A:p.Gly115Ser	coding	Pathogenic/Likely_pathogenic
4	107932228	C	G	C107932228G	CYP2U1	NM_183075.3(CYP2U1):c.490+95C>G	noncoding	Benign
4	107944902	G	A	G107944902A	CYP2U1	NM_183075.3(CYP2U1):c.491-68G>A	noncoding	Benign
4	107945248	C	T	C107945248T	CYP2U1	NM_183075.3(CYP2U1):c.769C>T:p.Arg257Ter	coding	Pathogenic
4	107947255	A	G	A107947255G	CYP2U1	NM_183075.3(CYP2U1):c.1127-121A>G	noncoding	Benign
4	107947538	G	A	G107947538A	CYP2U1	NM_183075.3(CYP2U1):c.1288+1G>A	coding	Pathogenic
4	107949438	G	A	G107949438A	CYP2U1	NM_183075.3(CYP2U1):c.1377G>A:p.Pro459=	coding	Benign/Likely_benign
4	107949452	C	G	C107949452G	CYP2U1	NM_183075.3(CYP2U1):c.1391C>G:p.Pro464Arg	coding	Pathogenic
4	107949608	T	A	T107949608A	CYP2U1	NM_183075.3(CYP2U1):c.1456+91T>A	noncoding	Benign
4	107950257	G	A	G107950257A	CYP2U1	NM_183075.3(CYP2U1):c.1469G>A:p.Cys490Tyr	coding	Pathogenic
4	107950454	A	G	A107950454G	CYP2U1	NM_183075.3(CYP2U1):c.*31A>G	noncoding	Benign
4	107950555	G	T	G107950555T	CYP2U1	NM_183075.3(CYP2U1):c.*132G>T	noncoding	Benign
4	107989685	C	A	C107989685A	HADH	Single_allele	noncoding	Benign
4	108009455	A	G	A108009455G	HADH	NM_005327.7(HADH):c.133-304A>G	noncoding	Benign
4	108009758	G	A	G108009758A	HADH	NM_005327.7(HADH):c.133-1G>A	noncoding	Pathogenic
4	108009903	C	T	C108009903T	HADH	NM_005327.7(HADH):c.261+16C>T	noncoding	Benign
4	108014609	C	A	C108014609A	HADH	NM_005327.7(HADH):c.419+21C>A	noncoding	Benign
4	108014614	T	C	T108014614C	HADH	NM_005327.7(HADH):c.419+26T>C	noncoding	Benign
4	108023423	C	T	C108023423T	HADH	NM_005327.7(HADH):c.547-51C>T	noncoding	Benign
4	108023665	C	T	C108023665T	HADH	NM_005327.7(HADH):c.636+102C>T	noncoding	Benign
4	108023690	A	G	A108023690G	HADH	NM_005327.7(HADH):c.636+127A>G	noncoding	Benign
4	108023914	C	A	C108023914A	HADH	NM_005327.7(HADH):c.636+351C>A	noncoding	Benign
4	108023948	A	G	A108023948G	HADH	NM_005327.7(HADH):c.636+385A>G	noncoding	Benign
4	108032520	T	A	T108032520A	HADH	NM_005327.7(HADH):c.710-656T>A	noncoding	Benign
4	108033964	G	T	G108033964T	HADH	NM_005327.7(HADH):c.827-275G>T	noncoding	Benign
4	108033994	C	T	C108033994T	HADH	NM_005327.7(HADH):c.827-245C>T	noncoding	Benign
4	109740988	G	A	G109740988A	CFI	NM_000204.5(CFI):c.1657C>T:p.Pro553Ser	coding	Benign/Likely_benign
4	109742708	A	G	A109742708G	CFI	NM_000204.5(CFI):c.1430-113T>C	noncoding	Benign
4	109742841	T	C	T109742841C	CFI	NM_000204.5(CFI):c.1430-246A>G	noncoding	Benign
4	109746189	T	C	T109746189C	CFI	NM_000204.5(CFI):c.1429+33A>G	noncoding	Benign
4	109746231	G	A	G109746231A	CFI	NM_000204.5(CFI):c.1420C>T:p.Arg474Ter	coding	Pathogenic
4	109746336	C	T	C109746336T	CFI	NM_000204.5(CFI):c.1315G>A:p.Gly439Arg	coding	Benign
4	109748876	C	T	C109748876T	CFI	NM_000204.5(CFI):c.1148+342G>A	noncoding	Benign
4	109749651	G	C	G109749651C	CFI	NM_000204.5(CFI):c.941-49C>G	noncoding	Benign
4	109752797	C	G	C109752797G	CFI	NM_000204.5(CFI):c.905-294G>C	noncoding	Benign
4	109757769	T	C	T109757769C	CFI	NM_000204.5(CFI):c.898A>G:p.Thr300Ala	coding	Benign
4	109757846	G	T	G109757846T	CFI	NM_000204.5(CFI):c.884-63C>A	noncoding	Benign
4	109758043	C	G	C109758043G	CFI	NM_000204.5(CFI):c.884-260G>C	noncoding	Benign
4	109759965	G	A	G109759965A	CFI	NM_000204.5(CFI):c.883+305C>T	noncoding	Benign
4	109759980	T	G	T109759980G	CFI	NM_000204.5(CFI):c.883+290A>C	noncoding	Benign
4	109759984	A	C	A109759984C	CFI	NM_000204.5(CFI):c.883+286T>G	noncoding	Benign
4	109760462	C	T	C109760462T	CFI	NM_000204.5(CFI):c.772+61G>A	noncoding	Benign
4	109760523	C	T	C109760523T	CFI	NM_000204.5(CFI):c.772G>A:p.Ala258Thr	coding	Pathogenic
4	109761331	T	C	T109761331C	CFI	NM_000204.5(CFI):c.658+186A>G	noncoding	Benign
4	109761616	G	A	G109761616A	CFI	NM_000204.5(CFI):c.559C>T:p.Arg187Ter	coding	Pathogenic/Likely_pathogenic
4	109761797	A	G	A109761797G	CFI	NM_000204.5(CFI):c.483-105T>C	noncoding	Benign
4	109764845	A	G	A109764845G	CFI	NM_000204.5(CFI):c.329-155T>C	noncoding	Benign
4	109764898	A	C	A109764898C	CFI	NM_000204.5(CFI):c.329-208T>G	noncoding	Benign
4	109764928	A	G	A109764928G	CFI	NM_000204.5(CFI):c.329-238T>C	noncoding	Benign
4	109801730	T	C	T109801730C	CFI	NM_000204.5(CFI):c.57+185A>G	noncoding	Benign
4	109801861	T	C	T109801861C	CFI	NM_000204.5(CFI):c.57+54A>G	noncoding	Benign
4	109802323	A	G	A109802323G	CFI	Single_allele	noncoding	Benign
4	109802411	A	G	A109802411G	CFI	Single_allele	noncoding	Benign
4	109851555	C	T	C109851555T	LRIT3	NM_198506.5(LRIT3):c.168C>T:p.Pro56=	coding	Benign/Likely_benign
4	109851892	C	A	C109851892A	LRIT3	NM_198506.5(LRIT3):c.505C>A:p.Pro169Thr	coding	Benign/Likely_benign
4	109852026	A	G	A109852026G	LRIT3	NM_198506.5(LRIT3):c.589+50A>G	noncoding	Benign
4	109867583	G	A	G109867583A	LRIT3	NM_198506.5(LRIT3):c.590-58G>A	noncoding	Benign
4	109867747	C	A	C109867747A	LRIT3	NM_198506.5(LRIT3):c.696C>A:p.Cys232Ter	coding	Pathogenic
4	109867985	C	T	C109867985T	LRIT3	NM_198506.5(LRIT3):c.895+39C>T	noncoding	Benign
4	109869469	T	C	T109869469C	LRIT3	NM_198506.5(LRIT3):c.896-176T>C	noncoding	Benign
4	109869478	C	T	C109869478T	LRIT3	NM_198506.5(LRIT3):c.896-167C>T	noncoding	Benign
4	109870078	G	A	G109870078A	LRIT3	NM_198506.5(LRIT3):c.1329G>A:p.Gln443=	coding	Benign
4	109912954	A	G	A109912954G	EGF	NM_001963.6(EGF):c.-382A>G	noncoding	Benign
4	109940771	G	A	G109940771A	EGF	NM_001963.6(EGF):c.128-175G>A	noncoding	Benign
4	109940867	G	A	G109940867A	EGF	NM_001963.6(EGF):c.128-79G>A	noncoding	Benign
4	109941207	C	T	C109941207T	EGF	NM_001963.6(EGF):c.327+62C>T	noncoding	Benign
4	109943567	G	A	G109943567A	EGF	NM_001963.6(EGF):c.509+132G>A	noncoding	Benign
4	109943702	G	A	G109943702A	EGF	NM_001963.6(EGF):c.510-140G>A	noncoding	Benign
4	109944115	T	G	T109944115G	EGF	NM_001963.6(EGF):c.737+46T>G	noncoding	Benign
4	109945022	A	C	A109945022C	EGF	NM_001963.6(EGF):c.738-51A>C	noncoding	Benign
4	109945297	G	A	G109945297A	EGF	NM_001963.6(EGF):c.940+22G>A	noncoding	Benign
4	109945352	C	T	C109945352T	EGF	NM_001963.6(EGF):c.940+77C>T	noncoding	Benign
4	109945370	A	T	A109945370T	EGF	NM_001963.6(EGF):c.940+95A>T	noncoding	Benign
4	109945426	A	T	A109945426T	EGF	NM_001963.6(EGF):c.940+151A>T	noncoding	Benign
4	109959208	T	C	T109959208C	EGF	NM_001963.6(EGF):c.941-104T>C	noncoding	Benign
4	109959477	C	T	C109959477T	EGF	NM_001963.6(EGF):c.1066+40C>T	noncoding	Benign
4	109960785	C	T	C109960785T	EGF	NM_001963.6(EGF):c.1067-82C>T	noncoding	Benign
4	109961304	G	A	G109961304A	EGF	NM_001963.6(EGF):c.1189+315G>A	noncoding	Benign
4	109961320	C	A	C109961320A	EGF	NM_001963.6(EGF):c.1189+331C>A	noncoding	Benign
4	109961824	G	T	G109961824T	EGF	NM_001963.6(EGF):c.1190-39G>T	noncoding	Benign
4	109961840	T	C	T109961840C	EGF	NM_001963.6(EGF):c.1190-23T>C	noncoding	Benign
4	109962188	C	T	C109962188T	EGF	NM_001963.6(EGF):c.1312+203C>T	noncoding	Benign
4	109962896	G	A	G109962896A	EGF	NM_001963.6(EGF):c.1313-277G>A	noncoding	Benign
4	109963140	C	T	C109963140T	EGF	NM_001963.6(EGF):c.1313-33C>T	noncoding	Benign
4	109963589	T	C	T109963589C	EGF	NM_001963.6(EGF):c.1438+291T>C	noncoding	Benign
4	109964086	A	T	A109964086T	EGF	NM_001963.6(EGF):c.1439-315A>T	noncoding	Benign
4	109964587	A	G	A109964587G	EGF	NM_001963.6(EGF):c.1575+50A>G	noncoding	Benign
4	109964712	T	C	T109964712C	EGF	NM_001963.6(EGF):c.1575+175T>C	noncoding	Benign
4	109968860	C	T	C109968860T	EGF	NM_001963.6(EGF):c.1576-111C>T	noncoding	Benign
4	109968933	T	A	T109968933A	EGF	NM_001963.6(EGF):c.1576-38T>A	noncoding	Benign
4	109974894	A	C	A109974894C	EGF	NM_001963.6(EGF):c.1829+87A>C	noncoding	Benign
4	109975731	T	G	T109975731G	EGF	NM_001963.6(EGF):c.1830-281T>G	noncoding	Benign
4	109976379	G	A	G109976379A	EGF	NM_001963.6(EGF):c.2053+144G>A	noncoding	Benign
4	109980497	T	C	T109980497C	EGF	NM_001963.6(EGF):c.2222-329T>C	noncoding	Benign
4	109980701	A	G	A109980701G	EGF	NM_001963.6(EGF):c.2222-125A>G	noncoding	Benign
4	109980901	C	T	C109980901T	EGF	NM_001963.6(EGF):c.2297C>T:p.Ser766Leu	coding	Benign/Likely_benign
4	109981010	G	A	G109981010A	EGF	NM_001963.6(EGF):c.2371+35G>A	noncoding	Benign
4	109983292	C	T	C109983292T	EGF	NM_001963.6(EGF):c.2372-130C>T	noncoding	Benign
4	109983334	C	T	C109983334T	EGF	NM_001963.6(EGF):c.2372-88C>T	noncoding	Benign
4	109983346	G	A	G109983346A	EGF	NM_001963.6(EGF):c.2372-76G>A	noncoding	Benign
4	109983561	C	A	C109983561A	EGF	NM_001963.6(EGF):c.2491+20C>A	noncoding	Benign
4	109983817	C	T	C109983817T	EGF	NM_001963.6(EGF):c.2491+276C>T	noncoding	Benign
4	109987583	C	T	C109987583T	EGF	NM_001963.6(EGF):c.2492-161C>T	noncoding	Benign
4	109987724	G	A	G109987724A	EGF	NM_001963.6(EGF):c.2492-20G>A	noncoding	Benign
4	109987725	G	A	G109987725A	EGF	NM_001963.6(EGF):c.2492-19G>A	noncoding	Benign
4	109987892	A	T	A109987892T	EGF	NM_001963.6(EGF):c.2608+32A>T	noncoding	Benign
4	109987933	C	T	C109987933T	EGF	NM_001963.6(EGF):c.2608+73C>T	noncoding	Benign
4	109988013	A	C	A109988013C	EGF	NM_001963.6(EGF):c.2608+153A>C	noncoding	Benign
4	109988860	G	A	G109988860A	EGF	NM_001963.6(EGF):c.2734+151G>A	noncoding	Benign
4	109993595	A	G	A109993595G	EGF	NM_001963.6(EGF):c.2857+226A>G	noncoding	Benign
4	110004215	T	C	T110004215C	EGF	NM_001963.6(EGF):c.3174-290T>C	noncoding	Benign
4	110004303	G	A	G110004303A	EGF	NM_001963.6(EGF):c.3174-202G>A	noncoding	Benign
4	110004313	C	T	C110004313T	EGF	NM_001963.6(EGF):c.3174-192C>T	noncoding	Benign
4	110004336	C	A	C110004336A	EGF	NM_001963.6(EGF):c.3174-169C>A	noncoding	Benign
4	110007972	G	A	G110007972A	EGF	NM_001963.6(EGF):c.3292-180G>A	noncoding	Benign
4	110008353	C	G	C110008353G	EGF	NM_001963.6(EGF):c.3370+123C>G	noncoding	Benign
4	110008382	G	A	G110008382A	EGF	NM_001963.6(EGF):c.3370+152G>A	noncoding	Benign
4	110008497	G	A	G110008497A	EGF	NM_001963.6(EGF):c.3370+267G>A	noncoding	Benign
4	110618543	C	T	C110618543T	PITX2	NM_000325.6(PITX2):c.557G>A:p.Trp186Ter	coding	Pathogenic
4	110618578	G	C	G110618578C	PITX2	NM_000325.6(PITX2):c.522C>G:p.Tyr174Ter	coding	Pathogenic/Likely_pathogenic
4	110618669	C	G	C110618669G	PITX2	NM_000325.6(PITX2):c.431G>C:p.Arg144Pro	coding	Pathogenic/Likely_pathogenic
4	110618672	C	G	C110618672G	PITX2	NM_000325.6(PITX2):c.428G>C:p.Arg143Pro	coding	Pathogenic
4	110618683	C	A	C110618683A	PITX2	NM_000325.6(PITX2):c.417G>T:p.Trp139Cys	coding	Pathogenic
4	110618689	C	T	C110618689T	PITX2	NM_000325.6(PITX2):c.412-1G>A	coding	Pathogenic
4	110620968	G	A	G110620968A	PITX2	NM_000325.6(PITX2):c.411+196C>T	noncoding	Benign
4	110620998	G	A	G110620998A	PITX2	NM_000325.6(PITX2):c.411+166C>T	noncoding	Benign
4	110621191	C	T	C110621191T	PITX2	NM_000325.6(PITX2):c.384G>A:p.Trp128Ter	coding	Pathogenic
4	110621259	C	A	C110621259A	PITX2	NM_000325.6(PITX2):c.316G>T:p.Glu106Ter	coding	Pathogenic
4	110621289	G	A	G110621289A	PITX2	NM_000325.6(PITX2):c.286C>T:p.Arg96Trp	coding	Pathogenic
4	110621355	G	A	G110621355A	PITX2	NM_000325.6(PITX2):c.220C>T:p.Gln74Ter	coding	Pathogenic
4	110621431	G	T	G110621431T	PITX2	NM_000325.6(PITX2):c.206-62C>A	noncoding	Benign
4	110621471	C	T	C110621471T	PITX2	NM_000325.6(PITX2):c.206-102G>A	noncoding	Benign
4	110622167	C	G	C110622167G	PITX2	NM_000325.6(PITX2):c.205+89G>C	noncoding	Benign
4	110622185	T	C	T110622185C	PITX2	NM_000325.6(PITX2):c.205+71A>G	noncoding	Benign
4	110623148	C	T	C110623148T	PITX2	NM_153426.3(PITX2):c.185-1779G>A	noncoding	Benign
4	110623439	T	A	T110623439A	PITX2	NM_153426.3(PITX2):c.185-2070A>T	noncoding	Benign
4	110632177	A	G	A110632177G	PITX2	NM_153426.3(PITX2):c.184+166T>C	noncoding	Benign
4	110632541	G	T	G110632541T	PITX2	NM_153426.3(PITX2):c.47-61C>A	noncoding	Benign
4	110632542	G	T	G110632542T	PITX2	NM_153426.3(PITX2):c.47-62C>A	noncoding	Benign
4	110632585	G	T	G110632585T	PITX2	NM_153426.3(PITX2):c.47-105C>A	noncoding	Benign
4	110633038	A	G	A110633038G	PITX2	NM_153426.3(PITX2):c.-10-30T>C	noncoding	Benign
4	110633113	T	G	T110633113G	PITX2	NM_153426.3(PITX2):c.-10-105A>C	noncoding	Benign
4	110636704	G	C	G110636704C	PITX2	NM_153426.3(PITX2):c.-11+77C>G	noncoding	Benign
4	110641841	C	A	C110641841A	PITX2	NM_001204398.1(PITX2):c.-11+78G>T	noncoding	Benign
4	112431241	G	A	G112431241A	ALPK1	NM_025144.4(ALPK1):c.1694G>A:p.Gly565Asp	coding	Benign
4	112431472	A	G	A112431472G	ALPK1	NM_025144.4(ALPK1):c.1925A>G:p.His642Arg	coding	Benign
4	112431743	G	A	G112431743A	ALPK1	NM_025144.4(ALPK1):c.2196G>A:p.Met732Ile	coding	Benign
4	112432129	T	C	T112432129C	ALPK1	NM_025144.4(ALPK1):c.2582T>C:p.Met861Thr	coding	Benign
4	112441466	C	G	C112441466G	ALPK1	NM_025144.4(ALPK1):c.*256C>G	noncoding	Benign
4	112585555	C	T	C112585555T	ZGRF1	NM_018392.5(ZGRF1):c.4087G>A:p.Glu1363Lys	coding	Benign
4	112623837	G	T	G112623837T	ZGRF1	NM_018392.5(ZGRF1):c.142C>A:p.Leu48Met	coding	Benign
4	112644679	G	A	G112644679A	LARP7	NM_016648.4(LARP7):c.10G>A:p.Glu4Lys	coding	Benign
4	112647388	G	A	G112647388A	LARP7	NM_016648.4(LARP7):c.836G>A:p.Arg279Gln	coding	Benign
4	112647979	G	T	G112647979T	LARP7	NM_016648.4(LARP7):c.1142+145G>T	noncoding	Benign
4	112649311	G	A	G112649311A	LARP7	NM_016648.4(LARP7):c.1143-224G>A	noncoding	Benign
4	112649483	C	A	C112649483A	LARP7	NM_016648.4(LARP7):c.1143-52C>A	noncoding	Benign
4	112649539	G	T	G112649539T	LARP7;MIR302CHG	NM_016648.4(LARP7):c.1147G>T:p.Glu383Ter	coding	Pathogenic
4	112649729	T	C	T112649729C	LARP7	NM_016648.4(LARP7):c.1294+43T>C	noncoding	Benign
4	112653253	G	A	G112653253A	LARP7	NM_016648.4(LARP7):c.1576+17G>A	noncoding	Benign
4	112653949	T	C	T112653949C	LARP7	NM_016648.4(LARP7):c.1577-119T>C	noncoding	Benign
4	112654090	G	A	G112654090A	LARP7	NM_016648.4(LARP7):c.1599G>A:p.Trp533Ter	coding	Pathogenic
4	112654273	T	G	T112654273G	LARP7	NM_016648.4(LARP7):c.1668+114T>G	noncoding	Benign
4	112654275	A	G	A112654275G	LARP7	NM_016648.4(LARP7):c.1668+116A>G	noncoding	Benign
4	112654340	A	T	A112654340T	LARP7	NM_016648.4(LARP7):c.1668+181A>T	noncoding	Benign
4	112657453	C	T	C112657453T	LARP7	NM_016648.4(LARP7):c.*126C>T	noncoding	Benign
4	113049603	C	T	C113049603T	ANK2	NM_001127493.3(ANK2):c.22-124813C>T	noncoding	Benign
4	113049622	A	C	A113049622C	ANK2	NM_001127493.3(ANK2):c.22-124794A>C	noncoding	Benign
4	113049819	C	T	C113049819T	ANK2	NM_001148.6(ANK2):c.84+7C>T	noncoding	Benign/Likely_benign
4	113116702	A	G	A113116702G	ANK2	NM_001148.6(ANK2):c.85-57714A>G	noncoding	Benign
4	113145933	T	A	T113145933A	ANK2	NM_001148.6(ANK2):c.85-28483T>A	noncoding	Benign
4	113174412	G	A	G113174412A	ANK2	NM_001148.6(ANK2):c.85-4G>A	noncoding	Benign/Likely_benign
4	113174461	C	G	C113174461G	ANK2	NM_001148.6(ANK2):c.130C>G:p.Leu44Val	coding	Benign/Likely_benign
4	113196124	A	G	A113196124G	ANK2	NM_001148.6(ANK2):c.187-244A>G	noncoding	Benign
4	113196316	C	T	C113196316T	ANK2	NM_001148.6(ANK2):c.187-52C>T	noncoding	Benign
4	113196451	G	T	G113196451T	ANK2	NM_001148.6(ANK2):c.270G>T:p.Val90=	coding	Benign/Likely_benign
4	113196485	G	A	G113196485A	ANK2	NM_001148.6(ANK2):c.285+19G>A	noncoding	Benign
4	113196567	G	A	G113196567A	ANK2	NM_001148.6(ANK2):c.285+101G>A	noncoding	Benign
4	113198778	C	T	C113198778T	ANK2	NM_001148.6(ANK2):c.286-233C>T	noncoding	Benign
4	113232217	A	G	A113232217G	ANK2	NM_001148.6(ANK2):c.441A>G:p.Lys147=	coding	Benign
4	113237050	T	C	T113237050C	ANK2	NM_001148.6(ANK2):c.547T>C:p.Leu183=	coding	Benign/Likely_benign
4	113240468	T	C	T113240468C	ANK2	NM_001148.6(ANK2):c.694-17T>C	noncoding	Benign
4	113242438	T	C	T113242438C	ANK2	NM_001148.6(ANK2):c.891+229T>C	noncoding	Benign
4	113249834	G	A	G113249834A	ANK2	NM_001148.6(ANK2):c.962G>A:p.Arg321Gln	coding	Benign/Likely_benign
4	113249920	A	G	A113249920G	ANK2	NM_001148.6(ANK2):c.990+58A>G	noncoding	Benign
4	113258548	C	T	C113258548T	ANK2	NM_001148.6(ANK2):c.1386+137C>T	noncoding	Benign
4	113274541	G	A	G113274541A	ANK2	NM_001148.6(ANK2):c.1575G>A:p.Ala525=	coding	Benign/Likely_benign
4	113277863	A	G	A113277863G	ANK2	NM_001148.6(ANK2):c.1710A>G:p.Ala570=	coding	Benign/Likely_benign
4	113278480	T	C	T113278480C	ANK2	NM_001148.6(ANK2):c.1803T>C:p.His601=	coding	Benign/Likely_benign
4	113282730	C	T	C113282730T	ANK2	NM_001148.6(ANK2):c.1937C>T:p.Ser646Phe	coding	Pathogenic
4	113288576	T	C	T113288576C	ANK2	NM_001148.6(ANK2):c.2277+90T>C	noncoding	Benign
4	113292448	G	A	G113292448A	ANK2	NM_001148.6(ANK2):c.2310G>A:p.Gln770=	coding	Benign
4	113292502	C	T	C113292502T	ANK2	NM_001148.6(ANK2):c.2364C>T:p.Asn788=	coding	Benign/Likely_benign
4	113311352	T	C	T113311352C	ANK2	NM_001148.6(ANK2):c.2646T>C:p.Asp882=	coding	Benign/Likely_benign
4	113318171	A	G	A113318171G	ANK2	NM_001148.6(ANK2):c.2797-346A>G	noncoding	Benign
4	113318386	G	T	G113318386T	ANK2	NM_001148.6(ANK2):c.2797-131G>T	noncoding	Benign
4	113323765	C	T	C113323765T	ANK2	NM_001148.6(ANK2):c.2900+5145C>T	coding	Benign
4	113330289	C	T	C113330289T	ANK2	NM_001148.6(ANK2):c.2944C>T:p.Arg982Ter	coding	Pathogenic/Likely_pathogenic
4	113330378	C	T	C113330378T	ANK2	NM_001148.6(ANK2):c.3033C>T:p.Arg1011=	coding	Benign/Likely_benign
4	113332809	T	C	T113332809C	ANK2	NM_001148.6(ANK2):c.3225-245T>C	noncoding	Benign
4	113333141	C	T	C113333141T	ANK2	NM_001148.6(ANK2):c.3312C>T:p.Ser1104=	coding	Benign
4	113333298	A	G	A113333298G	ANK2	NM_001148.6(ANK2):c.3379+90A>G	noncoding	Benign
4	113336550	A	T	A113336550T	ANK2	NM_001148.6(ANK2):c.3592-27A>T	noncoding	Benign
4	113336836	G	A	G113336836A	ANK2	NM_001148.6(ANK2):c.3796+55G>A	noncoding	Benign
4	113336908	T	G	T113336908G	ANK2	NM_001148.6(ANK2):c.3796+127T>G	noncoding	Benign
4	113336981	T	A	T113336981A	ANK2	NM_001148.6(ANK2):c.3796+200T>A	noncoding	Benign
4	113337045	G	T	G113337045T	ANK2	NM_001148.6(ANK2):c.3796+264G>T	noncoding	Benign
4	113339214	A	G	A113339214G	ANK2	NM_001148.6(ANK2):c.3797-12A>G	noncoding	Benign
4	113339328	G	A	G113339328A	ANK2	NM_001148.6(ANK2):c.3893+6G>A	noncoding	Benign
4	113339382	C	T	C113339382T	ANK2	NM_001148.6(ANK2):c.3893+60C>T	noncoding	Benign
4	113341507	C	G	C113341507G	ANK2	NM_001148.6(ANK2):c.3894-181C>G	noncoding	Benign
4	113341721	A	G	A113341721G	ANK2	NM_001148.6(ANK2):c.3927A>G:p.Glu1309=	coding	Benign/Likely_benign
4	113342466	C	T	C113342466T	ANK2	NM_001148.6(ANK2):c.4122+550C>T	noncoding	Benign
4	113343004	T	C	T113343004C	ANK2	NM_001148.6(ANK2):c.4123-13T>C	noncoding	Benign/Likely_benign
4	113343131	C	T	C113343131T	ANK2	NM_001148.6(ANK2):c.4237C>T:p.Leu1413=	coding	Benign/Likely_benign
4	113345879	T	C	T113345879C	ANK2	NM_001148.6(ANK2):c.4249-21T>C	noncoding	Benign
4	113346243	T	A	T113346243A	ANK2	NM_001148.6(ANK2):c.4371+221T>A	noncoding	Benign
4	113348324	T	C	T113348324C	ANK2	NM_001148.6(ANK2):c.4404+16T>C	noncoding	Benign
4	113350449	A	G	A113350449G	ANK2	NM_001148.6(ANK2):c.4426+200A>G	noncoding	Benign
4	113352851	T	G	T113352851G	ANK2	NM_001148.6(ANK2):c.4427-194T>G	noncoding	Benign
4	113353172	C	T	C113353172T	ANK2	NM_001148.6(ANK2):c.4554C>T:p.Thr1518=	coding	Benign/Likely_benign
4	113353523	G	C	G113353523C	ANK2	NM_001148.6(ANK2):c.4905G>C:p.Gly1635_Leu1636=	coding	Benign
4	113353918	A	G	A113353918G	ANK2	NM_001148.6(ANK2):c.5300A>G:p.Lys1767Arg	coding	Benign
4	113354396	G	A	G113354396A	ANK2	NM_001148.6(ANK2):c.5778G>A:p.Pro1926=	coding	Benign
4	113354444	C	T	C113354444T	ANK2	NM_001148.6(ANK2):c.5826C>T:p.Ser1942=	coding	Benign/Likely_benign
4	113355280	G	A	G113355280A	ANK2	NM_001148.6(ANK2):c.6662G>A:p.Gly2221Glu	coding	Benign/Likely_benign
4	113355864	C	A	C113355864A	ANK2	NM_001148.6(ANK2):c.7246C>A:p.Arg2416_Asp2417=	coding	Benign
4	113355869	T	C	T113355869C	ANK2	NM_001148.6(ANK2):c.7251T>C:p.Asp2417=	coding	Benign/Likely_benign
4	113355959	T	C	T113355959C	ANK2	NM_001148.6(ANK2):c.7341T>C:p.Ser2447=	coding	Benign/Likely_benign
4	113356325	A	G	A113356325G	ANK2	NM_001148.6(ANK2):c.7707A>G:p.Ala2569=	coding	Benign/Likely_benign
4	113357345	C	T	C113357345T	ANK2	NM_001148.6(ANK2):c.8727C>T:p.Pro2909=	coding	Benign/Likely_benign
4	113358092	G	T	G113358092T	ANK2	NM_001148.6(ANK2):c.9474G>T:p.Pro3158=	coding	Benign/Likely_benign
4	113358650	A	G	A113358650G	ANK2	NM_001148.6(ANK2):c.10032A>G:p.Pro3344=	coding	Benign/Likely_benign
4	113358881	C	T	C113358881T	ANK2	NM_001148.6(ANK2):c.10263C>T:p.Ala3421=	coding	Benign/Likely_benign
4	113365133	T	C	T113365133C	ANK2	NM_001148.6(ANK2):c.10983T>C:p.Ser3661=	coding	Benign/Likely_benign
4	113367657	C	T	C113367657T	ANK2	NM_001148.6(ANK2):c.11124C>T:p.His3708=	coding	Benign
4	113367951	A	T	A113367951T	ANK2	NM_001148.6(ANK2):c.11318+100A>T	noncoding	Benign
4	113368014	G	A	G113368014A	ANK2	NM_001148.6(ANK2):c.11318+163G>A	noncoding	Benign
4	113369323	A	G	A113369323G	ANK2	NM_001148.6(ANK2):c.11319-191A>G	noncoding	Benign
4	113369335	C	T	C113369335T	ANK2	NM_001148.6(ANK2):c.11319-179C>T	noncoding	Benign
4	113369718	G	A	G113369718A	ANK2	NM_001148.6(ANK2):c.11523G>A:p.Pro3841=	coding	Benign/Likely_benign
4	113369781	C	T	C113369781T	ANK2	NM_001148.6(ANK2):c.11586C>T:p.Leu3862=	coding	Benign/Likely_benign
4	113371342	T	C	T113371342C	ANK2	NM_001148.6(ANK2):c.11610+1537T>C	noncoding	Benign
4	113373095	C	T	C113373095T	ANK2	NM_001148.6(ANK2):c.11616C>T:p.Asp3872=	coding	Benign/Likely_benign
4	113381459	C	T	C113381459T	ANK2	NM_001148.6(ANK2):c.11862C>T:p.Asp3954=	coding	Benign/Likely_benign
4	113381461	A	G	A113381461G	ANK2	NM_001148.6(ANK2):c.11864A>G:p.Asn3955Ser	coding	Benign/Likely_benign
4	113381580	C	T	C113381580T	ANK2	NM_001148.6(ANK2):c.*109C>T	noncoding	Benign
4	113381581	G	A	G113381581A	ANK2	NM_001148.6(ANK2):c.*110G>A	noncoding	Benign
4	113513852	A	G	A113513852G	CAMK2D	NM_001321571.2(CAMK2D):c.881T>C:p.Phe294Ser	coding	Pathogenic
4	113513860	C	G	C113513860G	CAMK2D	NM_001321571.2(CAMK2D):c.873G>C:p.Leu291Phe	coding	Pathogenic
4	113513909	C	T	C113513909T	CAMK2D	NM_001321571.2(CAMK2D):c.824G>A:p.Arg275His	coding	Pathogenic
4	113513912	T	G	T113513912G	CAMK2D	NM_001321571.2(CAMK2D):c.821A>C:p.Gln274Pro	coding	Pathogenic
4	113537442	G	A	G113537442A	CAMK2D	NM_001321571.2(CAMK2D):c.416C>T:p.Pro139Leu	coding	Pathogenic
4	113609151	C	A	C113609151A	CAMK2D	NM_001321571.2(CAMK2D):c.275+1G>T	noncoding	Pathogenic
4	113609191	C	T	C113609191T	CAMK2D	NM_001321571.2(CAMK2D):c.236G>A:p.Ser79Asn	coding	Pathogenic
4	118298754	C	A	C118298754A	PRSS12	NM_003619.4(PRSS12):c.1816G>T:p.Ala606Ser	coding	Benign/Likely_benign
4	118723631	G	A	G118723631A	SEC24D	NM_014822.4(SEC24D):c.2983C>T:p.Gln995Ter	coding	Pathogenic
4	118723671	C	A	C118723671A	SEC24D	NM_014822.4(SEC24D):c.2959-16G>T	noncoding	Benign/Likely_benign
4	118728438	A	C	A118728438C	SEC24D	NM_014822.4(SEC24D):c.2958+123T>G	noncoding	Benign
4	118731199	T	C	T118731199C	SEC24D	NM_014822.4(SEC24D):c.2868+117A>G	noncoding	Benign
4	118731451	G	T	G118731451T	SEC24D	NM_014822.4(SEC24D):c.2733C>A:p.Ser911=	coding	Benign
4	118732667	G	C	G118732667C	SEC24D	NM_014822.4(SEC24D):c.2676+66C>G	noncoding	Benign
4	118737989	A	G	A118737989G	SEC24D	NM_014822.4(SEC24D):c.2496+272T>C	noncoding	Benign
4	118738025	C	T	C118738025T	SEC24D	NM_014822.4(SEC24D):c.2496+236G>A	noncoding	Benign
4	118738129	T	A	T118738129A	SEC24D	NM_014822.4(SEC24D):c.2496+132A>T	noncoding	Benign
4	118738166	G	A	G118738166A	SEC24D	NM_014822.4(SEC24D):c.2496+95C>T	noncoding	Benign
4	118738363	G	A	G118738363A	SEC24D	NM_014822.4(SEC24D):c.2394C>T:p.Leu798=	coding	Benign
4	118738997	A	G	A118738997G	SEC24D	NM_014822.4(SEC24D):c.2377+152T>C	noncoding	Benign
4	118740397	G	C	G118740397C	SEC24D	NM_014822.4(SEC24D):c.2238+266C>G	noncoding	Benign
4	118741126	T	A	T118741126A	SEC24D	NM_014822.4(SEC24D):c.1996-89A>T	noncoding	Benign
4	118743972	A	G	A118743972G	SEC24D	NM_014822.4(SEC24D):c.1995+16T>C	noncoding	Benign
4	118744190	T	C	T118744190C	SEC24D	NM_014822.4(SEC24D):c.1825-32A>G	noncoding	Benign
4	118745310	T	A	T118745310A	SEC24D	NM_014822.4(SEC24D):c.1708-250A>T	noncoding	Benign
4	118752549	T	A	T118752549A	SEC24D	NM_014822.4(SEC24D):c.1613+148A>T	noncoding	Benign
4	118757425	T	G	T118757425G	SEC24D	NM_014822.4(SEC24D):c.1421+296A>C	noncoding	Benign
4	118757456	T	C	T118757456C	SEC24D	NM_014822.4(SEC24D):c.1421+265A>G	noncoding	Benign
4	118758144	G	A	G118758144A	SEC24D	NM_014822.4(SEC24D):c.1297-299C>T	noncoding	Benign
4	118768204	A	T	A118768204T	SEC24D	NM_014822.4(SEC24D):c.1149T>A:p.Tyr383Ter	coding	Pathogenic
4	118797833	C	T	C118797833T	SEC24D	NM_014822.4(SEC24D):c.914-23G>A	noncoding	Benign
4	118805578	T	G	T118805578G	SEC24D	NM_014822.4(SEC24D):c.913+265A>C	noncoding	Benign
4	118805794	G	A	G118805794A	SEC24D	NM_014822.4(SEC24D):c.913+49C>T	noncoding	Benign
4	118806186	A	G	A118806186G	SEC24D	NM_014822.4(SEC24D):c.802-232T>C	noncoding	Benign
4	118815021	T	C	T118815021C	SEC24D	NM_014822.4(SEC24D):c.801+7A>G	noncoding	Benign
4	118815130	G	A	G118815130A	SEC24D	NM_014822.4(SEC24D):c.699C>T:p.Gly233=	coding	Benign
4	118815272	A	G	A118815272G	SEC24D	NM_014822.4(SEC24D):c.674-117T>C	noncoding	Benign
4	118815359	C	T	C118815359T	SEC24D	NM_014822.4(SEC24D):c.673+92G>A	noncoding	Benign
4	118815443	C	T	C118815443T	SEC24D	NM_014822.4(SEC24D):c.673+8G>A	noncoding	Benign
4	118815452	C	T	C118815452T	SEC24D	NM_014822.4(SEC24D):c.672G>A:p.Gln224=	coding	Benign
4	118815458	C	T	C118815458T	SEC24D	NM_014822.4(SEC24D):c.666G>A:p.Pro222=	coding	Benign
4	118815525	G	A	G118815525A	SEC24D	NM_014822.4(SEC24D):c.599C>T:p.Pro200Leu	coding	Benign/Likely_benign
4	118815812	T	C	T118815812C	SEC24D	NM_014822.4(SEC24D):c.398-86A>G	noncoding	Benign
4	118815903	C	T	C118815903T	SEC24D	NM_014822.4(SEC24D):c.398-177G>A	noncoding	Benign
4	118815930	C	T	C118815930T	SEC24D	NM_014822.4(SEC24D):c.398-204G>A	noncoding	Benign
4	118824687	G	T	G118824687T	SEC24D	NM_014822.4(SEC24D):c.181C>A:p.Pro61Thr	coding	Benign/Likely_benign
4	118825049	C	T	C118825049T	SEC24D	NM_014822.4(SEC24D):c.119-300G>A	noncoding	Benign
4	118833371	T	G	T118833371G	SEC24D	NM_014822.4(SEC24D):c.118+208A>C	noncoding	Benign
4	118833387	T	C	T118833387C	SEC24D	NM_014822.4(SEC24D):c.118+192A>G	noncoding	Benign
4	118833480	T	C	T118833480C	SEC24D	NM_014822.4(SEC24D):c.118+99A>G	noncoding	Benign
4	118833763	T	A	T118833763A	SEC24D	NM_014822.4(SEC24D):c.-41-26A>T	noncoding	Benign
4	118833985	T	C	T118833985C	SEC24D	NM_014822.4(SEC24D):c.-41-248A>G	noncoding	Benign
4	119136010	C	T	C119136010T	MYOZ2	NM_016599.5(MYOZ2):c.-15+28C>T	noncoding	Benign
4	119136697	A	G	A119136697G	MYOZ2	NM_016599.5(MYOZ2):c.76+96A>G	noncoding	Benign
4	119151023	A	G	A119151023G	MYOZ2	NM_016599.5(MYOZ2):c.228A>G:p.Gln76=	coding	Benign/Likely_benign
4	119158078	G	A	G119158078A	MYOZ2	NM_016599.5(MYOZ2):c.303G>A:p.Ser101=	coding	Benign/Likely_benign
4	119186367	C	T	C119186367T	MYOZ2	NM_016599.4(MYOZ2):c.*167C>T	noncoding	Benign
4	119186528	G	A	G119186528A	MYOZ2	NM_016599.4(MYOZ2):c.*328G>A	noncoding	Benign
4	119260556	C	T	C119260556T	USP53	NM_001371395.1(USP53):c.725C>T:p.Pro242Leu	coding	Pathogenic
4	119318789	C	T	C119318789T	FABP2	NM_000134.4(FABP2):c.*252G>A	noncoding	Benign
4	119318976	T	C	T119318976C	FABP2	NM_000134.4(FABP2):c.*65A>G	noncoding	Benign
4	119319026	C	T	C119319026T	FABP2	NM_000134.4(FABP2):c.*15G>A	noncoding	Benign
4	119319083	T	C	T119319083C	FABP2	NM_000134.4(FABP2):c.357A>G:p.Val119=	coding	Benign
4	119319779	T	C	T119319779C	FABP2	NM_000134.4(FABP2):c.241-136A>G	noncoding	Benign
4	119320491	A	G	A119320491G	FABP2	NM_000134.4(FABP2):c.240+179T>C	noncoding	Benign
4	119320504	T	C	T119320504C	FABP2	NM_000134.4(FABP2):c.240+166A>G	noncoding	Benign
4	119320519	C	T	C119320519T	FABP2	NM_000134.4(FABP2):c.240+151G>A	noncoding	Benign
4	119320570	C	A	C119320570A	FABP2	NM_000134.4(FABP2):c.240+100G>T	noncoding	Benign
4	119320694	A	G	A119320694G	FABP2	NM_000134.4(FABP2):c.216T>C:p.Asn72=	coding	Benign
4	119320990	C	T	C119320990T	FABP2	NM_000134.4(FABP2):c.68-148G>A	noncoding	Benign
4	119321009	A	C	A119321009C	FABP2	NM_000134.4(FABP2):c.68-167T>G	noncoding	Benign
4	119321157	C	T	C119321157T	FABP2	NM_000134.4(FABP2):c.68-315G>A	noncoding	Benign
4	119321774	G	T	G119321774T	FABP2	NM_000134.4(FABP2):c.67+262C>A	noncoding	Benign
4	119321880	G	A	G119321880A	FABP2	NM_000134.4(FABP2):c.67+156C>T	noncoding	Benign
4	119322197	C	T	C119322197T	FABP2	Single_allele	noncoding	Benign
4	119322356	T	C	T119322356C	FABP2	Single_allele	noncoding	Benign
4	120777044	G	A	G120777044A	PRDM5	NM_018699.4(PRDM5):c.1537+144C>T	noncoding	Benign
4	120781115	T	C	T120781115C	PRDM5	NM_018699.4(PRDM5):c.1443+28A>G	noncoding	Benign
4	120781479	T	C	T120781479C	PRDM5	NM_018699.4(PRDM5):c.1283-176A>G	noncoding	Benign
4	120781542	T	C	T120781542C	PRDM5	NM_018699.4(PRDM5):c.1283-239A>G	noncoding	Benign
4	120784989	G	A	G120784989A	PRDM5	NM_018699.4(PRDM5):c.1282+9C>T	noncoding	Benign/Likely_benign
4	120785242	G	T	G120785242T	PRDM5	NM_018699.4(PRDM5):c.1189-151C>A	noncoding	Benign
4	120798152	A	T	A120798152T	PRDM5	NM_018699.4(PRDM5):c.1188+115T>A	noncoding	Benign
4	120798389	A	T	A120798389T	PRDM5	NM_018699.4(PRDM5):c.1066T>A:p.Ser356Thr	coding	Benign/Likely_benign
4	120798604	T	C	T120798604C	PRDM5	NM_018699.4(PRDM5):c.1031-180A>G	noncoding	Benign
4	120798626	T	G	T120798626G	PRDM5	NM_018699.4(PRDM5):c.1031-202A>C	noncoding	Benign
4	120799429	T	C	T120799429C	PRDM5	NM_018699.4(PRDM5):c.1030+232A>G	noncoding	Benign
4	120799616	T	C	T120799616C	PRDM5	NM_018699.4(PRDM5):c.1030+45A>G	noncoding	Benign
4	120799626	G	T	G120799626T	PRDM5	NM_018699.4(PRDM5):c.1030+35C>A	noncoding	Benign
4	120799786	C	G	C120799786G	PRDM5	NM_018699.4(PRDM5):c.946-41G>C	noncoding	Benign
4	120799805	C	G	C120799805G	PRDM5	NM_018699.4(PRDM5):c.946-60G>C	noncoding	Benign
4	120816612	G	A	G120816612A	PRDM5	NM_018699.4(PRDM5):c.744-38C>T	noncoding	Benign
4	120817027	C	T	C120817027T	PRDM5	NM_018699.4(PRDM5):c.651-103G>A	noncoding	Benign
4	120817149	A	G	A120817149G	PRDM5	NM_018699.4(PRDM5):c.651-225T>C	noncoding	Benign
4	120818677	T	G	T120818677G	PRDM5	NM_018699.4(PRDM5):c.476-150A>C	noncoding	Benign
4	120821174	T	A	T120821174A	PRDM5	NM_018699.4(PRDM5):c.472A>T:p.Lys158Ter	coding	Pathogenic
4	120853360	T	C	T120853360C	PRDM5	NM_018699.4(PRDM5):c.300+58A>G	noncoding	Benign
4	120853779	C	T	C120853779T	PRDM5	NM_018699.4(PRDM5):c.178-239G>A	noncoding	Benign
4	120907364	C	T	C120907364T	PRDM5	NM_018699.4(PRDM5):c.177+110G>A	noncoding	Benign
4	120922456	T	C	T120922456C	PRDM5	NM_018699.4(PRDM5):c.93+60A>G	noncoding	Benign
4	121036404	G	A	G121036404A	NDNF	NM_024574.4(NDNF):c.1567C>T:p.Leu523=	coding	Benign
4	121036579	T	C	T121036579C	NDNF	NM_024574.4(NDNF):c.1392A>G:p.Ser464=	coding	Benign
4	121036936	T	G	T121036936G	NDNF	NM_024574.4(NDNF):c.1035A>C:p.Leu345=	coding	Benign
4	121037032	A	G	A121037032G	NDNF	NM_024574.4(NDNF):c.939T>C:p.Asp313=	coding	Benign
4	121037536	T	C	T121037536C	NDNF	NM_024574.4(NDNF):c.435A>G:p.Leu145=	coding	Benign
4	121045652	C	T	C121045652T	NDNF	NM_024574.4(NDNF):c.186G>A:p.Lys62=	coding	Benign
4	121801213	G	A	G121801213A	EXOSC9	Single_allele	noncoding	Benign
4	121801378	G	A	G121801378A	EXOSC9	NM_005033.3(EXOSC9):c.-47G>A	noncoding	Benign
4	121801505	C	T	C121801505T	EXOSC9	NM_005033.3(EXOSC9):c.66+15C>T	noncoding	Benign
4	121801538	C	G	C121801538G	EXOSC9	NM_005033.3(EXOSC9):c.66+48C>G	noncoding	Benign
4	121801541	A	C	A121801541C	EXOSC9	NM_005033.3(EXOSC9):c.66+51A>C	noncoding	Benign
4	121801911	G	C	G121801911C	EXOSC9	NM_005033.3(EXOSC9):c.151G>C:p.Gly51Arg	coding	Pathogenic
4	121801951	G	A	G121801951A	EXOSC9	NM_005033.3(EXOSC9):c.161+30G>A	noncoding	Benign
4	121802751	T	G	T121802751G	EXOSC9	NM_005033.3(EXOSC9):c.239T>G:p.Leu80Arg	coding	Pathogenic
4	121802898	C	T	C121802898T	EXOSC9	NM_005033.3(EXOSC9):c.282-17C>T	noncoding	Benign
4	121804437	C	T	C121804437T	EXOSC9	NM_005033.3(EXOSC9):c.385-185C>T	noncoding	Benign
4	121804608	A	G	A121804608G	EXOSC9	NM_005033.3(EXOSC9):c.385-14A>G	noncoding	Benign
4	121804874	A	G	A121804874G	EXOSC9	NM_005033.3(EXOSC9):c.522+115A>G	noncoding	Benign
4	121804918	C	T	C121804918T	EXOSC9	NM_005033.3(EXOSC9):c.522+159C>T	noncoding	Benign
4	121807569	A	G	A121807569G	EXOSC9	NM_005033.3(EXOSC9):c.552A>G:p.Pro184=	coding	Benign
4	121807810	A	T	A121807810T	EXOSC9	NM_005033.3(EXOSC9):c.605+188A>T	noncoding	Benign
4	121811688	G	A	G121811688A	EXOSC9	NM_005033.3(EXOSC9):c.827+17G>A	noncoding	Benign
4	121811744	A	G	A121811744G	EXOSC9	NM_005033.3(EXOSC9):c.827+73A>G	noncoding	Benign
4	121813223	C	T	C121813223T	EXOSC9	NM_005033.3(EXOSC9):c.828-11C>T	noncoding	Benign
4	121813813	A	G	A121813813G	EXOSC9	NM_005033.3(EXOSC9):c.975-53A>G	noncoding	Benign
4	121813888	A	C	A121813888C	EXOSC9	NM_005033.3(EXOSC9):c.997A>C:p.Thr333Pro	coding	Benign
4	121813977	T	C	T121813977C	EXOSC9	NM_005033.3(EXOSC9):c.1086T>C:p.Gly362=	coding	Benign
4	121813987	A	G	A121813987G	EXOSC9	NM_005033.3(EXOSC9):c.1096A>G:p.Ile366Val	coding	Benign
4	121814070	C	A	C121814070A	EXOSC9	NM_005033.3(EXOSC9):c.1156+23C>A	noncoding	Benign
4	121816317	C	T	C121816317T	EXOSC9	NM_005033.3(EXOSC9):c.1157-52C>T	noncoding	Benign
4	121816718	A	G	A121816718G	EXOSC9	NM_005033.3(EXOSC9):c.1236-54A>G	coding	Benign
4	121816810	G	C	G121816810C	EXOSC9	NM_005033.3(EXOSC9):c.1274G>C:p.Ser425Thr	coding	Benign
4	121827841	A	C	A121827841C	BBS7	NM_176824.3(BBS7):c.2014+305T>G	coding	Benign
4	121828270	C	T	C121828270T	BBS7	NM_176824.3(BBS7):c.1891-1G>A	coding	Pathogenic
4	121828850	A	G	A121828850G	BBS7	NM_176824.3(BBS7):c.1677-122T>C	noncoding	Benign
4	121828924	C	T	C121828924T	BBS7	NM_176824.3(BBS7):c.1677-196G>A	noncoding	Benign
4	121833244	C	A	C121833244A	BBS7	NM_176824.3(BBS7):c.1663G>T:p.Glu555Ter	coding	Pathogenic
4	121835145	T	A	T121835145A	BBS7	NM_176824.3(BBS7):c.1510A>T:p.Arg504Ter	coding	Pathogenic
4	121835197	G	C	G121835197C	BBS7	NM_176824.3(BBS7):c.1458C>G:p.Tyr486Ter	coding	Pathogenic
4	121839813	G	A	G121839813A	BBS7	NM_176824.3(BBS7):c.1306-117C>T	noncoding	Benign
4	121845486	A	G	A121845486G	BBS7	NM_176824.3(BBS7):c.1230+18T>C	noncoding	Benign
4	121847255	G	A	G121847255A	BBS7	NM_176824.3(BBS7):c.1037+149C>T	noncoding	Benign
4	121848900	T	G	T121848900G	BBS7	NM_176824.3(BBS7):c.878A>C:p.Gln293Pro	coding	Pathogenic
4	121854783	G	A	G121854783A	BBS7	NM_176824.3(BBS7):c.639C>T:p.Asp213=	coding	Benign
4	121854912	A	G	A121854912G	BBS7	NM_176824.3(BBS7):c.602-92T>C	noncoding	Benign
4	121855704	C	A	C121855704A	BBS7	NM_176824.3(BBS7):c.529-143G>T	noncoding	Benign
4	121855778	G	A	G121855778A	BBS7	NM_176824.3(BBS7):c.529-217C>T	noncoding	Benign
4	121858819	C	G	C121858819G	BBS7	NM_176824.3(BBS7):c.528+173G>C	noncoding	Benign
4	121861658	C	T	C121861658T	BBS7	NM_176824.3(BBS7):c.187G>A:p.Gly63Arg	coding	Pathogenic/Likely_pathogenic
4	121867727	C	T	C121867727T	BBS7	NM_176824.3(BBS7):c.102+254G>A	noncoding	Benign
4	121951564	G	A	G121951564A	TRPC3	NM_001130698.2(TRPC3):c.117C>T:p.Gly39=	coding	Benign
4	122170523	C	T	C122170523T	KIAA1109	NM_001384125.1(KIAA1109):c.-33-92C>T	noncoding	Benign
4	122172862	C	T	C122172862T	KIAA1109	NM_001384125.1(KIAA1109):c.98-174C>T	noncoding	Benign
4	122174374	A	G	A122174374G	KIAA1109	NM_001384125.1(KIAA1109):c.215-200A>G	noncoding	Benign
4	122174548	C	T	C122174548T	KIAA1109	NM_001384125.1(KIAA1109):c.215-26C>T	noncoding	Benign
4	122174734	G	C	G122174734C	KIAA1109	NM_001384125.1(KIAA1109):c.293+82G>C	noncoding	Benign
4	122175683	C	T	C122175683T	KIAA1109	NM_001384125.1(KIAA1109):c.294-167C>T	noncoding	Benign
4	122187607	G	A	G122187607A	KIAA1109	NM_001384125.1(KIAA1109):c.627+95G>A	noncoding	Benign
4	122187864	A	G	A122187864G	KIAA1109	NM_001384125.1(KIAA1109):c.628-31A>G	noncoding	Benign
4	122188180	A	C	A122188180C	KIAA1109	NM_001384125.1(KIAA1109):c.821+92A>C	noncoding	Benign
4	122189801	A	G	A122189801G	KIAA1109	NM_001384125.1(KIAA1109):c.822-199A>G	noncoding	Benign
4	122190199	C	A	C122190199A	KIAA1109	NM_001384125.1(KIAA1109):c.901+120C>A	noncoding	Benign
4	122192197	A	G	A122192197G	KIAA1109	NM_001384125.1(KIAA1109):c.902-32A>G	noncoding	Benign
4	122192273	A	G	A122192273G	KIAA1109	NM_001384125.1(KIAA1109):c.946A>G:p.Ser316Gly	coding	Benign
4	122196574	T	C	T122196574C	KIAA1109	NM_001384125.1(KIAA1109):c.1053-61T>C	noncoding	Benign
4	122196800	T	C	T122196800C	KIAA1109	NM_001384125.1(KIAA1109):c.1209+9T>C	noncoding	Benign
4	122199240	G	A	G122199240A	KIAA1109	NM_001384125.1(KIAA1109):c.1289-119G>A	noncoding	Benign
4	122201222	A	G	A122201222G	KIAA1109	NM_001384125.1(KIAA1109):c.1498+96A>G	noncoding	Benign
4	122201285	T	C	T122201285C	KIAA1109	NM_001384125.1(KIAA1109):c.1498+159T>C	noncoding	Benign
4	122207424	G	A	G122207424A	KIAA1109	NM_001384125.1(KIAA1109):c.1655-117G>A	noncoding	Benign
4	122207532	C	T	C122207532T	KIAA1109	NM_001384125.1(KIAA1109):c.1655-9C>T	noncoding	Benign
4	122207537	G	T	G122207537T	KIAA1109	NM_001384125.1(KIAA1109):c.1655-4G>T	noncoding	Benign
4	122207688	T	G	T122207688G	KIAA1109	NM_001384125.1(KIAA1109):c.1752+50T>G	noncoding	Benign
4	122207746	T	A	T122207746A	KIAA1109	NM_001384125.1(KIAA1109):c.1752+108T>A	noncoding	Benign
4	122209731	A	G	A122209731G	KIAA1109	NM_001384125.1(KIAA1109):c.1932-87A>G	noncoding	Benign
4	122210093	G	A	G122210093A	KIAA1109	NM_001384125.1(KIAA1109):c.2038+169G>A	noncoding	Benign
4	122219584	G	C	G122219584C	BLTP1	NM_001384125.1(BLTP1):c.2475+17G>C	noncoding	Benign
4	122224596	T	A	T122224596A	BLTP1	NM_001384125.1(BLTP1):c.2712T>A:p.Pro904=	coding	Benign
4	122226983	C	G	C122226983G	KIAA1109	NM_001384125.1(KIAA1109):c.2922+148C>G	noncoding	Benign
4	122229131	T	C	T122229131C	KIAA1109	NM_001384125.1(KIAA1109):c.2933T>C:p.Ile978Thr	coding	Benign
4	122238428	T	C	T122238428C	KIAA1109	NM_001384125.1(KIAA1109):c.3833+78T>C	noncoding	Benign
4	122239491	G	A	G122239491A	KIAA1109	NM_001384125.1(KIAA1109):c.3834-25G>A	noncoding	Benign
4	122240176	C	T	C122240176T	KIAA1109	NM_001384125.1(KIAA1109):c.4494C>T:p.Pro1498=	coding	Benign
4	122240464	A	G	A122240464G	KIAA1109	NM_001384125.1(KIAA1109):c.4671+111A>G	noncoding	Benign
4	122242891	A	G	A122242891G	KIAA1109	NM_001384125.1(KIAA1109):c.4672-107A>G	noncoding	Benign
4	122244031	T	G	T122244031G	KIAA1109	NM_001384125.1(KIAA1109):c.4916+4T>G	noncoding	Benign
4	122244086	G	A	G122244086A	KIAA1109	NM_001384125.1(KIAA1109):c.4916+59G>A	noncoding	Benign
4	122244213	T	G	T122244213G	KIAA1109	NM_001384125.1(KIAA1109):c.4916+186T>G	noncoding	Benign
4	122244938	T	C	T122244938C	KIAA1109	NM_001384125.1(KIAA1109):c.4917-82T>C	noncoding	Benign
4	122246320	A	T	A122246320T	KIAA1109	NM_001384125.1(KIAA1109):c.5184+22A>T	noncoding	Benign
4	122246417	G	A	G122246417A	KIAA1109	NM_001384125.1(KIAA1109):c.5184+119G>A	noncoding	Benign
4	122247206	A	G	A122247206G	KIAA1109	NM_001384125.1(KIAA1109):c.5361A>G:p.Ser1787=	coding	Benign
4	122250504	T	A	T122250504A	KIAA1109	NM_001384125.1(KIAA1109):c.5853T>A:p.Asp1951Glu	coding	Benign
4	122254745	G	A	G122254745A	KIAA1109	NM_001384125.1(KIAA1109):c.6075-60G>A	noncoding	Benign
4	122255220	A	G	A122255220G	KIAA1109	NM_001384125.1(KIAA1109):c.6315A>G:p.Leu2105=	coding	Benign
4	122255411	C	T	C122255411T	KIAA1109	NM_001384125.1(KIAA1109):c.6378+128C>T	noncoding	Benign
4	122257707	T	C	T122257707C	KIAA1109	NM_001384125.1(KIAA1109):c.6619+212T>C	noncoding	Benign
4	122258745	C	T	C122258745T	KIAA1109	NM_001384125.1(KIAA1109):c.6664C>T:p.Arg2222Trp	coding	Benign
4	122258875	C	T	C122258875T	KIAA1109	NM_001384125.1(KIAA1109):c.6762+32C>T	noncoding	Benign
4	122263130	G	T	G122263130T	KIAA1109	NM_001384125.1(KIAA1109):c.6982+147G>T	noncoding	Benign
4	122263256	T	C	T122263256C	KIAA1109	NM_001384125.1(KIAA1109):c.6983-186T>C	noncoding	Benign
4	122263672	G	A	G122263672A	KIAA1109	NM_001384125.1(KIAA1109):c.7141+72G>A	noncoding	Benign
4	122264508	C	A	C122264508A	KIAA1109	NM_001384125.1(KIAA1109):c.7317+81C>A	noncoding	Benign
4	122264527	C	A	C122264527A	KIAA1109	NM_001384125.1(KIAA1109):c.7317+100C>A	noncoding	Benign
4	122266714	C	T	C122266714T	KIAA1109	NM_001384125.1(KIAA1109):c.7318-69C>T	noncoding	Benign
4	122271228	T	C	T122271228C	BLTP1	NM_001384125.1(BLTP1):c.7704T>C:p.Asp2568=	coding	Benign
4	122272091	A	G	A122272091G	KIAA1109	NM_001384125.1(KIAA1109):c.8201-69A>G	noncoding	Benign
4	122274281	T	G	T122274281G	KIAA1109	NM_001384125.1(KIAA1109):c.8447-62T>G	noncoding	Benign
4	122274527	A	G	A122274527G	KIAA1109	NM_001384125.1(KIAA1109):c.8540+91A>G	noncoding	Benign
4	122279970	G	A	G122279970A	KIAA1109	NM_001384125.1(KIAA1109):c.8787G>A:p.Gln2929=	coding	Benign
4	122280110	G	A	G122280110A	KIAA1109	NM_001384125.1(KIAA1109):c.8798+129G>A	noncoding	Benign
4	122280156	A	T	A122280156T	KIAA1109	NM_001384125.1(KIAA1109):c.8798+175A>T	noncoding	Benign
4	122281926	A	G	A122281926G	KIAA1109	NM_001384125.1(KIAA1109):c.9037+152A>G	noncoding	Benign
4	122289348	C	T	C122289348T	KIAA1109	NM_001384125.1(KIAA1109):c.9388+156C>T	noncoding	Benign
4	122305755	C	G	C122305755G	KIAA1109	NM_001384125.1(KIAA1109):c.9673-122C>G	noncoding	Benign
4	122307977	C	T	C122307977T	BLTP1	NM_001384125.1(BLTP1):c.9870C>T:p.Ala3290=	coding	Benign
4	122313790	A	T	A122313790T	KIAA1109	NM_001384125.1(KIAA1109):c.10312+103A>T	noncoding	Benign
4	122313855	G	C	G122313855C	KIAA1109	NM_001384125.1(KIAA1109):c.10312+168G>C	noncoding	Benign
4	122327895	T	C	T122327895C	KIAA1109	NM_001384125.1(KIAA1109):c.11260-209T>C	noncoding	Benign
4	122328081	A	G	A122328081G	KIAA1109	NM_001384125.1(KIAA1109):c.11260-23A>G	noncoding	Benign
4	122331249	A	G	A122331249G	KIAA1109	NM_001384125.1(KIAA1109):c.11514-77A>G	noncoding	Benign
4	122331283	T	C	T122331283C	KIAA1109	NM_001384125.1(KIAA1109):c.11514-43T>C	noncoding	Benign
4	122331325	G	A	G122331325A	BLTP1	NM_001384125.1(BLTP1):c.11514-1G>A	noncoding	Pathogenic
4	122334164	G	C	G122334164C	KIAA1109	NM_001384125.1(KIAA1109):c.11911-180G>C	noncoding	Benign
4	122334594	G	T	G122334594T	KIAA1109	NM_001384125.1(KIAA1109):c.12112+49G>T	noncoding	Benign
4	122336409	T	C	T122336409C	KIAA1109	NM_001384125.1(KIAA1109):c.12274+56T>C	noncoding	Benign
4	122336776	G	A	G122336776A	KIAA1109	NM_001384125.1(KIAA1109):c.12275-105G>A	noncoding	Benign
4	122336937	G	T	G122336937T	BLTP1	NM_001384125.1(BLTP1):c.12331G>T:p.Glu4111Ter	coding	Pathogenic
4	122343330	T	C	T122343330C	KIAA1109	NM_001384125.1(KIAA1109):c.12617-80T>C	noncoding	Benign
4	122344186	G	A	G122344186A	KIAA1109	NM_001384125.1(KIAA1109):c.12818-196G>A	noncoding	Benign
4	122344736	T	A	T122344736A	KIAA1109	NM_001384125.1(KIAA1109):c.12997+175T>A	noncoding	Benign
4	122347704	A	G	A122347704G	KIAA1109	NM_001384125.1(KIAA1109):c.13318A>G:p.Thr4440Ala	coding	Benign
4	122347773	C	T	C122347773T	KIAA1109	NM_001384125.1(KIAA1109):c.13387C>T:p.Arg4463Ter	coding	Pathogenic
4	122348349	T	G	T122348349G	KIAA1109	NM_001384125.1(KIAA1109):c.13394-218T>G	noncoding	Benign
4	122348946	G	T	G122348946T	KIAA1109	NM_001384125.1(KIAA1109):c.13545-212G>T	noncoding	Benign
4	122349780	G	A	G122349780A	KIAA1109	NM_001384125.1(KIAA1109):c.13896-77G>A	noncoding	Benign
4	122349820	G	A	G122349820A	KIAA1109	NM_001384125.1(KIAA1109):c.13896-37G>A	noncoding	Benign
4	122350034	G	A	G122350034A	KIAA1109	NM_001384125.1(KIAA1109):c.14073G>A:p.Lys4691=	coding	Benign
4	122355806	G	A	G122355806A	KIAA1109	NM_001384125.1(KIAA1109):c.14580G>A:p.Leu4860=	coding	Benign
4	122355846	A	G	A122355846G	KIAA1109	NM_001384125.1(KIAA1109):c.14620A>G:p.Thr4874Ala	coding	Benign
4	122356037	C	G	C122356037G	KIAA1109	NM_001384125.1(KIAA1109):c.14764+47C>G	noncoding	Benign
4	122359548	T	C	T122359548C	KIAA1109	NM_001384125.1(KIAA1109):c.14900-9T>C	noncoding	Benign
4	122359705	T	C	T122359705C	KIAA1109	NM_001384125.1(KIAA1109):c.15048T>C:p.His5016=	coding	Benign
4	122612665	C	T	C122612665T	IL21	NM_021803.4(IL21):c.*45G>A	noncoding	Benign
4	122612679	G	A	G122612679A	IL21	NM_021803.4(IL21):c.*31C>T	noncoding	Benign
4	122613258	A	G	A122613258G	IL21	NM_021803.4(IL21):c.361-330T>C	noncoding	Benign
4	122741685	T	A	T122741685A	BBS12	NM_152618.3(BBS12):c.-10-198T>A	noncoding	Benign
4	122741842	A	T	A122741842T	BBS12	NM_152618.3(BBS12):c.-10-41A>T	noncoding	Benign
4	122742064	G	T	G122742064T	BBS12	NM_152618.3(BBS12):c.172G>T:p.Glu58Ter	coding	Pathogenic
4	122742337	C	T	C122742337T	BBS12	NM_152618.3(BBS12):c.445C>T:p.Gln149Ter	coding	Pathogenic
4	122742472	C	A	C122742472A	BBS12	NM_152618.3(BBS12):c.580C>A:p.Leu194Ile	coding	Benign
4	122742574	C	T	C122742574T	BBS12	NM_152618.3(BBS12):c.682C>T:p.Gln228Ter	coding	Pathogenic/Likely_pathogenic
4	122742652	G	T	G122742652T	BBS12	NM_152618.3(BBS12):c.760G>T:p.Glu254Ter	coding	Pathogenic/Likely_pathogenic
4	122742940	C	T	C122742940T	BBS12	NM_152618.3(BBS12):c.1048C>T:p.Gln350Ter	coding	Pathogenic
4	122743616	G	A	G122743616A	BBS12	NM_152618.3(BBS12):c.1724G>A:p.Trp575Ter	coding	Pathogenic
4	122743625	C	A	C122743625A	BBS12	NM_152618.3(BBS12):c.1733C>A:p.Ser578Ter	coding	Pathogenic
4	122743719	C	G	C122743719G	BBS12	NM_152618.3(BBS12):c.1827C>G:p.Tyr609Ter	coding	Pathogenic
4	122743945	C	T	C122743945T	BBS12	NM_152618.3(BBS12):c.2053C>T:p.Gln685Ter	coding	Pathogenic
4	122922773	G	A	G122922773A	SPATA5	NM_198041.3(NUDT6):c.-270+28C>T	noncoding	Benign
4	122922970	G	T	G122922970T	SPATA5	Single_allele	noncoding	Benign
4	122923227	G	T	G122923227T	SPATA5	NM_145207.3(SPATA5):c.85G>T:p.Glu29Ter	coding	Pathogenic
4	122923252	C	G	C122923252G	SPATA5	NM_145207.3(SPATA5):c.110C>G:p.Ser37Ter	coding	Pathogenic
4	122923453	G	C	G122923453C	SPATA5	NM_145207.3(SPATA5):c.163+148G>C	noncoding	Benign
4	122923551	G	T	G122923551T	SPATA5	NM_145207.3(SPATA5):c.163+246G>T	noncoding	Benign
4	122928022	A	C	A122928022C	SPATA5	NM_145207.3(SPATA5):c.288+264A>C	noncoding	Benign
4	122929421	C	T	C122929421T	SPATA5	NM_145207.3(SPATA5):c.446+224C>T	noncoding	Benign
4	122933340	T	C	T122933340C	SPATA5	NM_145207.3(SPATA5):c.447-99T>C	noncoding	Benign
4	122933358	C	T	C122933358T	SPATA5	NM_145207.3(SPATA5):c.447-81C>T	noncoding	Benign
4	122933715	G	A	G122933715A	SPATA5	NM_145207.3(SPATA5):c.505+218G>A	noncoding	Benign
4	122934664	T	G	T122934664G	SPATA5	NM_145207.3(SPATA5):c.1073T>G:p.Leu358Ter	coding	Pathogenic
4	122934878	T	A	T122934878A	SPATA5	NM_145207.3(SPATA5):c.1147+140T>A	noncoding	Benign
4	122935937	T	G	T122935937G	SPATA5	NM_145207.3(SPATA5):c.1277+94T>G	noncoding	Benign
4	122936342	A	G	A122936342G	SPATA5	NM_145207.3(SPATA5):c.1334+186A>G	noncoding	Benign
4	122937951	T	G	T122937951G	SPATA5	NM_145207.3(SPATA5):c.1335-175T>G	noncoding	Benign
4	122938466	G	A	G122938466A	SPATA5	NM_145207.3(SPATA5):c.1458+217G>A	noncoding	Benign
4	122947360	G	A	G122947360A	SPATA5	NM_145207.3(SPATA5):c.1586G>A:p.Arg529Gln	coding	Pathogenic
4	122979258	A	T	A122979258T	SPATA5	NM_145207.3(SPATA5):c.1741A>T:p.Lys581Ter	coding	Pathogenic
4	122979327	C	T	C122979327T	SPATA5	NM_145207.3(SPATA5):c.1810C>T:p.Gln604Ter	coding	Pathogenic/Likely_pathogenic
4	123027918	C	T	C123027918T	SPATA5	NM_145207.3(SPATA5):c.1870-268C>T	noncoding	Benign
4	123028112	T	C	T123028112C	SPATA5	NM_145207.3(SPATA5):c.1870-74T>C	noncoding	Benign
4	123028150	G	T	G123028150T	SPATA5	NM_145207.3(SPATA5):c.1870-36G>T	noncoding	Benign
4	123028320	G	A	G123028320A	SPATA5	NM_145207.3(SPATA5):c.2004G>A:p.Gly668=	coding	Benign
4	123056593	T	A	T123056593A	SPATA5	NM_145207.3(SPATA5):c.2133+153T>A	noncoding	Benign
4	123056724	T	C	T123056724C	SPATA5	NM_145207.3(SPATA5):c.2133+284T>C	noncoding	Benign
4	123057186	T	C	T123057186C	SPATA5	NM_145207.3(SPATA5):c.2134-23T>C	noncoding	Benign
4	123057441	T	C	T123057441C	SPATA5	NM_145207.3(SPATA5):c.2213+153T>C	noncoding	Benign
4	123090563	G	A	G123090563A	SPATA5	NM_145207.3(SPATA5):c.2214-16G>A	noncoding	Benign
4	123255717	A	T	A123255717T	SPATA5	NM_145207.3(SPATA5):c.2341-299A>T	noncoding	Benign
4	123255725	T	C	T123255725C	SPATA5	NM_145207.3(SPATA5):c.2341-291T>C	noncoding	Benign
4	123255924	C	T	C123255924T	SPATA5	NM_145207.3(SPATA5):c.2341-92C>T	noncoding	Benign
4	123401439	G	A	G123401439A	SPRY1	NM_001258038.2(SPRY1):c.-55-98G>A	noncoding	Benign
4	123401478	C	A	C123401478A	SPRY1	NM_001258038.2(SPRY1):c.-55-59C>A	noncoding	Benign
4	123402583	T	C	T123402583C	SPRY1	NM_001258038.2(SPRY1):c.*32T>C	noncoding	Benign
4	123402628	G	C	G123402628C	SPRY1	NM_001258038.2(SPRY1):c.*77G>C	noncoding	Benign
4	125316935	G	T	G125316935T	FAT4	NM_001291303.3(FAT4):c.524G>T:p.Arg175Leu	coding	Benign/Likely_benign
4	125317246	G	T	G125317246T	FAT4	NM_001291303.3(FAT4):c.835G>T:p.Glu279Ter	coding	Pathogenic
4	125317253	C	T	C125317253T	FAT4	NM_001291303.3(FAT4):c.842C>T:p.Thr281Ile	coding	Benign/Likely_benign
4	125317539	G	A	G125317539A	FAT4	NM_001291303.3(FAT4):c.1128G>A:p.Val376=	coding	Benign/Likely_benign
4	125318627	A	G	A125318627G	FAT4	NM_001291303.3(FAT4):c.2216A>G:p.Asn739Ser	coding	Benign
4	125318861	C	T	C125318861T	FAT4	NM_001291303.3(FAT4):c.2450C>T:p.Ala817Val	coding	Benign
4	125321250	G	A	G125321250A	FAT4	NM_001291303.3(FAT4):c.4839G>A:p.Ser1613=	coding	Benign
4	125398508	A	G	A125398508G	FAT4	NM_001291303.3(FAT4):c.5176-276A>G	noncoding	Benign
4	125398596	G	A	G125398596A	FAT4	NM_001291303.3(FAT4):c.5176-188G>A	noncoding	Benign
4	125398617	G	T	G125398617T	FAT4	NM_001291303.3(FAT4):c.5176-167G>T	noncoding	Benign
4	125406995	C	G	C125406995G	FAT4	NM_001291303.3(FAT4):c.5423C>G:p.Ser1808Cys	coding	Benign
4	125407298	G	A	G125407298A	FAT4	NM_001291303.3(FAT4):c.5569+157G>A	noncoding	Benign
4	125408371	C	G	C125408371G	FAT4	NM_001291303.3(FAT4):c.5570-73C>G	noncoding	Benign
4	125414823	G	C	G125414823C	FAT4	NM_001291303.3(FAT4):c.5921-61G>C	noncoding	Benign
4	125414870	C	T	C125414870T	FAT4	NM_001291303.3(FAT4):c.5921-14C>T	noncoding	Benign/Likely_benign
4	125414887	T	C	T125414887C	FAT4	NM_001291303.3(FAT4):c.5924T>C:p.Ile1975Thr	coding	Benign
4	125415835	G	T	G125415835T	FAT4	NM_001291303.3(FAT4):c.6843+29G>T	noncoding	Benign
4	125416002	T	C	T125416002C	FAT4	NM_001291303.3(FAT4):c.6843+196T>C	noncoding	Benign
4	125416400	A	G	A125416400G	FAT4	NM_001291303.3(FAT4):c.6844-48A>G	noncoding	Benign
4	125416589	C	T	C125416589T	FAT4	NM_001291303.3(FAT4):c.6985C>T:p.Arg2329Cys	coding	Benign
4	125416623	G	A	G125416623A	FAT4	NM_001291303.3(FAT4):c.7018+1G>A	coding	Pathogenic
4	125434454	T	G	T125434454G	FAT4	NM_001291303.3(FAT4):c.7199+29T>G	noncoding	Benign
4	125434580	A	G	A125434580G	FAT4	NM_001291303.3(FAT4):c.7199+155A>G	noncoding	Benign
4	125446451	G	T	G125446451T	FAT4	NM_001291303.3(FAT4):c.7358G>T:p.Ser2453Ile	coding	Benign/Likely_benign
4	125448306	C	T	C125448306T	FAT4	NM_001291303.3(FAT4):c.7451-155C>T	noncoding	Benign
4	125448462	T	C	T125448462C	FAT4	NM_001291303.3(FAT4):c.7452T>C:p.Gly2484=	coding	Benign
4	125448476	C	T	C125448476T	FAT4	NM_001291303.3(FAT4):c.7466C>T:p.Ala2489Val	coding	Benign/Likely_benign
4	125450300	G	A	G125450300A	FAT4	NM_001291303.3(FAT4):c.9290G>A:p.Ser3097Asn	coding	Benign
4	125451471	A	T	A125451471T	FAT4	NM_001291303.3(FAT4):c.10461A>T:p.Ser3487=	coding	Benign
4	125451645	C	G	C125451645G	FAT4	NM_001291303.3(FAT4):c.10635C>G:p.Pro3545=	coding	Benign
4	125452044	T	C	T125452044C	FAT4	NM_001291303.3(FAT4):c.11034T>C:p.Asp3678=	coding	Benign
4	125452703	C	T	C125452703T	FAT4	NM_001291303.3(FAT4):c.11693C>T:p.Ala3898Val	coding	Benign/Likely_benign
4	125453100	T	C	T125453100C	FAT4	NM_001291303.3(FAT4):c.11800+290T>C	noncoding	Benign
4	125463895	A	G	A125463895G	FAT4	NM_001291303.3(FAT4):c.11905+228A>G	noncoding	Benign
4	125468472	A	G	A125468472G	FAT4	NM_001291303.3(FAT4):c.11906-40A>G	noncoding	Benign
4	125468714	A	G	A125468714G	FAT4	NM_001291303.3(FAT4):c.12108A>G:p.Arg4036=	coding	Benign
4	125468855	A	G	A125468855G	FAT4	NM_001291303.3(FAT4):c.12213+36A>G	noncoding	Benign
4	125468867	A	G	A125468867G	FAT4	NM_001291303.3(FAT4):c.12213+48A>G	noncoding	Benign
4	125468947	A	G	A125468947G	FAT4	NM_001291303.3(FAT4):c.12213+128A>G	noncoding	Benign
4	125469015	A	G	A125469015G	FAT4	NM_001291303.3(FAT4):c.12213+196A>G	noncoding	Benign
4	125475903	C	T	C125475903T	FAT4	NM_001291303.3(FAT4):c.12214-268C>T	noncoding	Benign
4	125476356	G	A	G125476356A	FAT4	NM_001291303.3(FAT4):c.12299+100G>A	noncoding	Benign
4	125476979	G	A	G125476979A	FAT4	NM_001291303.3(FAT4):c.12300-176G>A	noncoding	Benign
4	125477410	G	T	G125477410T	FAT4	NM_001291303.3(FAT4):c.12479+76G>T	noncoding	Benign
4	125479441	A	G	A125479441G	FAT4	NM_001291303.3(FAT4):c.12480-300A>G	noncoding	Benign
4	125479670	G	T	G125479670T	FAT4	NM_001291303.3(FAT4):c.12480-71G>T	noncoding	Benign
4	125479927	C	T	C125479927T	FAT4	NM_001291303.3(FAT4):c.12604+62C>T	noncoding	Benign
4	125481290	T	C	T125481290C	FAT4	NM_001291303.3(FAT4):c.12605-231T>C	noncoding	Benign
4	125481419	C	T	C125481419T	FAT4	NM_001291303.3(FAT4):c.12605-102C>T	noncoding	Benign
4	125489904	G	T	G125489904T	FAT4	NM_001291303.3(FAT4):c.13088G>T:p.Gly4363Val	coding	Benign
4	125490404	C	T	C125490404T	FAT4	NM_001291303.3(FAT4):c.13588C>T:p.Gln4530Ter	coding	Pathogenic
4	125490623	A	G	A125490623G	FAT4	NM_001291303.3(FAT4):c.13807A>G:p.Asn4603Asp	coding	Benign
4	125491482	G	A	G125491482A	FAT4	NM_001291303.3(FAT4):c.14666G>A:p.Arg4889Lys	coding	Benign/Likely_benign
4	125491494	G	A	G125491494A	FAT4	NM_001291303.3(FAT4):c.14678G>A:p.Arg4893Gln	coding	Benign
4	125491554	G	A	G125491554A	FAT4	NM_001291303.3(FAT4):c.14738G>A:p.Gly4913Asp	coding	Benign
4	127632734	G	A	G127632734A	INTU	Single_allele	noncoding	Benign
4	127632830	C	A	C127632830A	INTU	Single_allele	noncoding	Benign
4	127633138	T	C	T127633138C	INTU	NM_015693.4(INTU):c.104T>C:p.Val35Ala	coding	Benign
4	127633249	G	A	G127633249A	INTU	NM_015693.4(INTU):c.146+69G>A	noncoding	Benign
4	127643845	A	G	A127643845G	INTU	NM_015693.4(INTU):c.471A>G:p.Arg157=	coding	Benign
4	127656435	T	G	T127656435G	INTU	NM_015693.4(INTU):c.683-201T>G	noncoding	Benign
4	127656620	G	C	G127656620C	INTU	NM_015693.4(INTU):c.683-16G>C	noncoding	Benign
4	127663349	G	A	G127663349A	INTU	NM_015693.4(INTU):c.769-32G>A	noncoding	Benign
4	127663425	G	A	G127663425A	INTU	NM_015693.4(INTU):c.813G>A:p.Thr271=	coding	Benign
4	127663506	C	T	C127663506T	INTU	NM_015693.4(INTU):c.894C>T:p.Ile298=	coding	Benign
4	127669249	A	G	A127669249G	INTU	NM_015693.4(INTU):c.1091+95A>G	noncoding	Benign
4	127669322	A	G	A127669322G	INTU	NM_015693.4(INTU):c.1091+168A>G	noncoding	Benign
4	127674141	A	T	A127674141T	INTU	NM_015693.4(INTU):c.1109A>T:p.Asn370Ile	coding	Benign
4	127687642	A	G	A127687642G	INTU	NM_015693.4(INTU):c.1260-36A>G	noncoding	Benign
4	127687828	C	G	C127687828G	INTU	NM_015693.4(INTU):c.1410C>G:p.Leu470=	coding	Benign
4	127700117	A	C	A127700117C	INTU	NM_015693.4(INTU):c.1503+54A>C	noncoding	Benign
4	127700146	G	A	G127700146A	INTU	NM_015693.4(INTU):c.1503+83G>A	noncoding	Benign
4	127700249	C	T	C127700249T	INTU	NM_015693.4(INTU):c.1503+186C>T	noncoding	Benign
4	127704120	A	G	A127704120G	INTU	NM_015693.4(INTU):c.1504-108A>G	noncoding	Benign
4	127704208	A	G	A127704208G	INTU	NM_015693.4(INTU):c.1504-20A>G	noncoding	Benign
4	127705895	C	T	C127705895T	INTU	NM_015693.4(INTU):c.1788+83C>T	noncoding	Benign
4	127706772	T	G	T127706772G	INTU	NM_015693.4(INTU):c.2074T>G:p.Cys692Gly	coding	Benign
4	127706783	G	A	G127706783A	INTU	NM_015693.4(INTU):c.2085G>A:p.Thr695=	coding	Benign/Likely_benign
4	127706812	G	A	G127706812A	INTU	NM_015693.4(INTU):c.2114G>A:p.Arg705His	coding	Benign
4	127706945	A	C	A127706945C	INTU	NM_015693.4(INTU):c.2247A>C:p.Leu749Phe	coding	Benign
4	127708721	G	A	G127708721A	INTU	NM_015693.4(INTU):c.2369+53G>A	noncoding	Benign
4	127708730	A	G	A127708730G	INTU	NM_015693.4(INTU):c.2369+62A>G	noncoding	Benign
4	127710704	A	G	A127710704G	INTU	NM_015693.4(INTU):c.2370-209A>G	noncoding	Benign
4	127710868	A	G	A127710868G	INTU	NM_015693.4(INTU):c.2370-45A>G	noncoding	Benign
4	127711290	C	T	C127711290T	INTU	NM_015693.4(INTU):c.2559+188C>T	noncoding	Benign
4	127713867	C	T	C127713867T	INTU	NM_015693.4(INTU):c.2560-69C>T	noncoding	Benign
4	127716482	A	G	A127716482G	INTU	NM_015693.4(INTU):c.*46A>G	noncoding	Benign
4	127882004	G	A	G127882004A	PLK4	NM_014264.5(PLK4):c.126+78G>A	noncoding	Benign
4	127882148	A	G	A127882148G	PLK4	NM_014264.5(PLK4):c.126+222A>G	noncoding	Benign
4	127886064	T	A	T127886064A	PLK4	NM_014264.5(PLK4):c.694T>A:p.Ser232Thr	coding	Benign
4	127887378	T	G	T127887378G	PLK4	NM_014264.5(PLK4):c.1359-18T>G	noncoding	Benign
4	127889962	G	C	G127889962C	PLK4	NM_014264.5(PLK4):c.1556G>C:p.Trp519Ser	coding	Benign
4	127892111	G	T	G127892111T	PLK4	NM_014264.5(PLK4):c.2039-254G>T	noncoding	Benign
4	127892530	A	G	A127892530G	PLK4	NM_014264.5(PLK4):c.2188+16A>G	noncoding	Benign
4	127893249	G	A	G127893249A	PLK4	NM_014264.5(PLK4):c.2189-36G>A	noncoding	Benign
4	127893337	G	A	G127893337A	PLK4	NM_014264.5(PLK4):c.2241G>A:p.Gly747=	coding	Benign
4	127893809	G	T	G127893809T	PLK4	NM_014264.5(PLK4):c.2490G>T:p.Glu830Asp	coding	Benign
4	127893875	T	C	T127893875C	PLK4	NM_014264.5(PLK4):c.2556T>C:p.Asn852=	coding	Benign
4	127894814	T	A	T127894814A	PLK4	NM_014264.5(PLK4):c.2563-139T>A	noncoding	Benign
4	127894897	A	G	A127894897G	PLK4	NM_014264.5(PLK4):c.2563-56A>G	noncoding	Benign
4	127895105	C	G	C127895105G	PLK4	NM_014264.5(PLK4):c.2703+12C>G	noncoding	Benign
4	127896782	A	T	A127896782T	PLK4	NM_014264.5(PLK4):c.2704-19A>T	noncoding	Benign
4	127898463	A	G	A127898463G	PLK4	NM_014264.5(PLK4):c.2835A>G:p.Pro945=	coding	Benign
4	127920750	C	T	C127920750T	MFSD8	NM_001371596.2(MFSD8):c.1437G>A:p.Trp479Ter	coding	Pathogenic
4	127920767	G	A	G127920767A	MFSD8	NM_001371596.2(MFSD8):c.1420C>T:p.Gln474Ter	coding	Pathogenic
4	127920826	A	G	A127920826G	MFSD8	NM_001371596.2(MFSD8):c.1361T>C:p.Met454Thr	coding	Pathogenic/Likely_pathogenic
4	127920919	C	G	C127920919G	MFSD8	NM_001371596.2(MFSD8):c.1351-83G>C	noncoding	Benign
4	127921414	G	T	G127921414T	MFSD8	NM_001371596.2(MFSD8):c.1350+110C>A	noncoding	Benign
4	127921522	A	G	A127921522G	MFSD8	NM_001371596.2(MFSD8):c.1350+2T>C	noncoding	Pathogenic/Likely_pathogenic
4	127921549	G	T	G127921549T	MFSD8	NM_001371596.2(MFSD8):c.1325C>A:p.Ser442Ter	coding	Pathogenic
4	127921898	A	C	A127921898C	MFSD8	NM_001371596.2(MFSD8):c.1064T>G:p.Leu355Ter	coding	Pathogenic
4	127930818	C	T	C127930818T	MFSD8	NM_001371596.2(MFSD8):c.864-1G>A	coding	Pathogenic/Likely_pathogenic
4	127930833	T	A	T127930833A	MFSD8	NM_001371596.2(MFSD8):c.864-16A>T	noncoding	Benign
4	127930902	T	G	T127930902G	MFSD8	NM_001371596.2(MFSD8):c.864-85A>C	noncoding	Benign
4	127938839	C	T	C127938839T	MFSD8	NM_001371596.2(MFSD8):c.699-1G>A	coding	Pathogenic
4	127939586	C	T	C127939586T	MFSD8	NM_001371596.2(MFSD8):c.698+267G>A	noncoding	Benign
4	127939935	G	A	G127939935A	MFSD8	NM_001371596.2(MFSD8):c.616C>T:p.Gln206Ter	coding	Pathogenic
4	127940254	G	A	G127940254A	MFSD8	NM_001371596.2(MFSD8):c.554-257C>T	noncoding	Benign
4	127942306	G	C	G127942306C	MFSD8	NM_001371596.2(MFSD8):c.440-148C>G	noncoding	Benign
4	127943932	G	A	G127943932A	MFSD8	NM_001371596.2(MFSD8):c.259C>T:p.Gln87Ter	coding	Pathogenic
4	127944116	A	G	A127944116G	MFSD8	NM_001371596.2(MFSD8):c.199-124T>C	noncoding	Benign
4	127957243	G	A	G127957243A	MFSD8	NM_001371596.2(MFSD8):c.154+258C>T	noncoding	Benign
4	127957578	A	C	A127957578C	MFSD8	NM_001371596.2(MFSD8):c.77T>G:p.Leu26Ter	coding	Pathogenic
4	127965188	C	G	C127965188G	MFSD8	NM_152778.4(MFSD8):c.-55G>C	noncoding	Benign
4	127965423	T	C	T127965423C	MFSD8	NM_001358451.3(ABHD18):c.-201T>C	noncoding	Benign
4	128936780	G	A	G128936780A	SCLT1	NM_144643.4(SCLT1):c.1704C>T:p.Asp568=	coding	Benign
4	128943032	C	T	C128943032T	SCLT1	NM_144643.4(SCLT1):c.1596G>A:p.Lys532=	coding	Benign
4	128943142	G	A	G128943142A	SCLT1	NM_144643.4(SCLT1):c.1486C>T:p.Gln496Ter	coding	Pathogenic
4	128946125	T	A	T128946125A	SCLT1	NM_144643.4(SCLT1):c.1321A>T:p.Ser441Cys	coding	Benign
4	128946172	G	A	G128946172A	SCLT1	NM_144643.4(SCLT1):c.1294-20C>T	noncoding	Benign
4	128957015	A	G	A128957015G	SCLT1	NM_144643.4(SCLT1):c.1146+11T>C	noncoding	Benign
4	128957110	C	G	C128957110G	SCLT1	NM_144643.4(SCLT1):c.1062G>C:p.Glu354Asp	coding	Benign
4	128959711	G	A	G128959711A	SCLT1	NM_144643.4(SCLT1):c.936C>T:p.Thr312=	coding	Benign
4	128959747	T	C	T128959747C	SCLT1	NM_144643.4(SCLT1):c.900A>G:p.Gln300=	coding	Benign
4	128992150	C	T	C128992150T	SCLT1	NM_144643.4(SCLT1):c.686+17G>A	noncoding	Benign
4	128992190	G	A	G128992190A	SCLT1	NM_144643.4(SCLT1):c.663C>T:p.Ile221=	coding	Benign
4	128992197	A	G	A128992197G	SCLT1	NM_144643.4(SCLT1):c.656T>C:p.Val219Ala	coding	Benign
4	128999683	G	A	G128999683A	SCLT1	NM_144643.4(SCLT1):c.538C>T:p.Gln180Ter	coding	Pathogenic
4	128999814	A	T	A128999814T	SCLT1	NM_144643.4(SCLT1):c.427-20T>A	noncoding	Benign
4	129003755	G	A	G129003755A	SCLT1	NM_144643.4(SCLT1):c.412C>T:p.Gln138Ter	coding	Pathogenic
4	129003822	C	A	C129003822A	SCLT1	NM_144643.4(SCLT1):c.345G>T:p.Leu115=	coding	Benign
4	129039025	T	C	T129039025C	SCLT1	NM_144643.4(SCLT1):c.290+16A>G	noncoding	Benign
4	129039039	A	G	A129039039G	SCLT1	NM_144643.4(SCLT1):c.290+2T>C	noncoding	Pathogenic
4	129082371	G	A	G129082371A	SCLT1	NM_144643.4(SCLT1):c.37C>T:p.Arg13Ter	coding	Pathogenic
4	139301217	G	A	G139301217A	NAA15	NM_001184989.2(NDUFC1):c.-222+1199C>T	noncoding	Benign
4	139301326	T	C	T139301326C	NAA15	NM_001184989.2(NDUFC1):c.-222+1090A>G	noncoding	Benign
4	139301383	A	G	A139301383G	NAA15	NM_001184989.2(NDUFC1):c.-222+1033T>C	noncoding	Benign
4	139334157	C	G	C139334157G	NAA15	NM_057175.5(NAA15):c.55-17C>G	noncoding	Benign
4	139340928	C	A	C139340928A	NAA15	NM_057175.5(NAA15):c.261C>A:p.Gly87=	coding	Benign
4	139340947	A	T	A139340947T	NAA15	NM_057175.5(NAA15):c.280A>T:p.Lys94Ter	coding	Pathogenic
4	139341001	G	A	G139341001A	NAA15	NM_057175.5(NAA15):c.334G>A:p.Asp112Asn	coding	Pathogenic
4	139343267	C	T	C139343267T	NAA15	NM_057175.5(NAA15):c.537+307C>T	noncoding	Benign
4	139343277	T	G	T139343277G	NAA15	NM_057175.5(NAA15):c.537+317T>G	noncoding	Benign
4	139344083	G	A	G139344083A	NAA15	NM_057175.5(NAA15):c.538-103G>A	noncoding	Benign
4	139344087	G	A	G139344087A	NAA15	NM_057175.5(NAA15):c.538-99G>A	noncoding	Benign
4	139344467	G	A	G139344467A	NAA15	NM_057175.5(NAA15):c.691+128G>A	noncoding	Benign
4	139344477	A	G	A139344477G	NAA15	NM_057175.5(NAA15):c.691+138A>G	noncoding	Benign
4	139349553	C	A	C139349553A	NAA15	NM_057175.5(NAA15):c.783C>A:p.Tyr261Ter	coding	Pathogenic
4	139349721	G	A	G139349721A	NAA15	NM_057175.5(NAA15):c.811+140G>A	noncoding	Benign
4	139349729	A	C	A139349729C	NAA15	NM_057175.5(NAA15):c.811+148A>C	noncoding	Benign
4	139349748	G	A	G139349748A	NAA15	NM_057175.5(NAA15):c.811+167G>A	noncoding	Benign
4	139351503	A	G	A139351503G	NAA15	NM_057175.5(NAA15):c.908-2A>G	noncoding	Pathogenic
4	139351519	G	T	G139351519T	NAA15	NM_057175.5(NAA15):c.922G>T:p.Glu308Ter	coding	Pathogenic
4	139351592	T	G	T139351592G	NAA15	NM_057175.5(NAA15):c.995T>G:p.Leu332Ter	coding	Pathogenic
4	139354038	G	T	G139354038T	NAA15	NM_057175.5(NAA15):c.1027G>T:p.Glu343Ter	coding	Pathogenic
4	139357145	C	T	C139357145T	NAA15	NM_057175.5(NAA15):c.1088-241C>T	noncoding	Benign
4	139357384	A	G	A139357384G	NAA15	NM_057175.5(NAA15):c.1088-2A>G	noncoding	Pathogenic
4	139359900	G	A	G139359900A	NAA15	NM_057175.5(NAA15):c.1410+5G>A	noncoding	Pathogenic
4	139360539	T	C	T139360539C	NAA15	NM_057175.5(NAA15):c.1450T>C:p.Cys484Arg	coding	Pathogenic
4	139360781	T	A	T139360781A	NAA15	NM_057175.5(NAA15):c.1539+153T>A	noncoding	Benign
4	139360787	G	A	G139360787A	NAA15	NM_057175.5(NAA15):c.1539+159G>A	noncoding	Benign
4	139361829	C	T	C139361829T	NAA15	NM_057175.5(NAA15):c.1645C>T:p.Arg549Ter	coding	Pathogenic
4	139370242	A	T	A139370242T	NAA15	NM_057175.5(NAA15):c.1785A>T:p.Leu595=	coding	Benign
4	139376616	C	T	C139376616T	NAA15	NM_057175.5(NAA15):c.2056+143C>T	noncoding	Benign
4	139378633	C	T	C139378633T	NAA15	NM_057175.5(NAA15):c.2057-123C>T	noncoding	Benign
4	139378752	A	G	A139378752G	NAA15	NM_057175.5(NAA15):c.2057-4A>G	noncoding	Benign
4	139387830	C	A	C139387830A	NAA15	NM_057175.5(NAA15):c.2401-54C>A	noncoding	Benign
4	139387924	T	C	T139387924C	NAA15	NM_057175.5(NAA15):c.2441T>C:p.Leu814Pro	coding	Pathogenic
4	139454339	C	A	C139454339A	RAB33B	NM_031296.3(RAB33B):c.144C>A:p.Cys48Ter	coding	Pathogenic
4	139472689	C	T	C139472689T	RAB33B	NM_031296.3(RAB33B):c.253C>T:p.Gln85Ter	coding	Pathogenic
4	139472716	C	T	C139472716T	RAB33B	NM_031296.3(RAB33B):c.280C>T:p.Arg94Ter	coding	Pathogenic
4	139472836	C	T	C139472836T	RAB33B	NM_031296.3(RAB33B):c.400C>T:p.Gln134Ter	coding	Pathogenic
4	139472967	G	C	G139472967C	RAB33B	NM_031296.3(RAB33B):c.531G>C:p.Thr177=	coding	Benign
4	139473380	A	G	A139473380G	RAB33B	NM_031296.3(RAB33B):c.*254A>G	noncoding	Benign/Likely_benign
4	140525126	A	G	A140525126G	ELMOD2	NM_153702.4(ELMOD2):c.-9-294A>G	noncoding	Benign
4	140525613	G	T	G140525613T	ELMOD2	NM_153702.4(ELMOD2):c.142+43G>T	noncoding	Benign
4	140537331	T	G	T140537331G	ELMOD2	NM_153702.4(ELMOD2):c.270-81T>G	noncoding	Benign
4	140540014	A	G	A140540014G	ELMOD2	NM_153702.4(ELMOD2):c.400-154A>G	noncoding	Benign
4	140540016	A	T	A140540016T	ELMOD2	NM_153702.4(ELMOD2):c.400-152A>T	noncoding	Benign
4	140540468	T	C	T140540468C	ELMOD2	NM_153702.4(ELMOD2):c.533+167T>C	noncoding	Benign
4	140562581	A	C	A140562581C	UCP1	NM_021833.5(UCP1):c.629-208T>G	noncoding	Benign
4	140572807	T	C	T140572807C	UCP1	NG_012139.1:g.999A>G	noncoding	Benign
4	143336967	C	T	C143336967T	GAB1	NM_002039.4(GAB1):c.-222C>T	noncoding	Benign
4	143439755	G	A	G143439755A	GAB1	NM_002039.4(GAB1):c.1196-47G>A	noncoding	Benign
4	143440563	C	T	C143440563T	GAB1	NM_002039.4(GAB1):c.1585+181C>T	noncoding	Benign
4	143459246	G	A	G143459246A	GAB1	NM_002039.4(GAB1):c.1586-139G>A	noncoding	Benign
4	143460248	A	G	A143460248G	GAB1	NM_002039.4(GAB1):c.1680-116A>G	noncoding	Benign
4	143460310	A	G	A143460310G	GAB1	NM_002039.4(GAB1):c.1680-54A>G	noncoding	Benign
4	143696689	G	T	G143696689T	FREM3	NM_001168235.2(FREM3):c.3987C>A:p.Ile1329=	coding	Benign
4	143698768	C	T	C143698768T	FREM3	NM_001168235.2(FREM3):c.1908G>A:p.Gly636=	coding	Benign
4	145515199	A	G	A145515199G	SMAD1	NM_005900.3(SMAD1):c.400+186A>G	noncoding	Benign
4	145540284	A	G	A145540284G	SMAD1	NM_005900.3(SMAD1):c.658+223A>G	noncoding	Benign
4	145540382	C	T	C145540382T	SMAD1	NM_005900.3(SMAD1):c.658+321C>T	noncoding	Benign
4	145542814	T	C	T145542814C	SMAD1	NM_005900.3(SMAD1):c.775+116T>C	noncoding	Benign
4	145553690	C	T	C145553690T	SMAD1	NM_005900.3(SMAD1):c.998-94C>T	noncoding	Benign
4	145557513	C	G	C145557513G	SMAD1	NM_005900.3(SMAD1):c.1255-278C>G	noncoding	Benign
4	145557627	C	T	C145557627T	SMAD1	NM_005900.3(SMAD1):c.1255-164C>T	noncoding	Benign
4	145558083	A	C	A145558083C	SMAD1	NM_005900.3(SMAD1):c.*149A>C	noncoding	Benign
4	145558095	C	A	C145558095A	SMAD1	NM_005900.3(SMAD1):c.*161C>A	noncoding	Benign
4	145558245	A	G	A145558245G	SMAD1	NM_005900.3(SMAD1):c.*311A>G	noncoding	Benign
4	145619459	C	T	C145619459T	MMAA	NM_172250.3(MMAA):c.-66+52C>T	noncoding	Benign
4	145638826	A	C	A145638826C	MMAA	NM_172250.3(MMAA):c.-65-249A>C	noncoding	Benign
4	145639504	T	C	T145639504C	MMAA	NM_172250.3(MMAA):c.365T>C:p.Leu122Pro	coding	Pathogenic
4	145639573	G	A	G145639573A	MMAA	NM_172250.3(MMAA):c.434G>A:p.Arg145Gln	coding	Pathogenic
4	145639686	A	G	A145639686G	MMAA	NM_172250.3(MMAA):c.439+108A>G	noncoding	Benign
4	145639756	A	G	A145639756G	MMAA	NM_172250.3(MMAA):c.439+178A>G	noncoding	Benign
4	145639840	C	T	C145639840T	MMAA	NM_172250.3(MMAA):c.439+262C>T	noncoding	Benign
4	145645915	C	G	C145645915G	MMAA	NM_172250.3(MMAA):c.563-71C>G	noncoding	Benign
4	145646073	T	A	T145646073A	MMAA	NM_172250.3(MMAA):c.650T>A:p.Leu217Ter	coding	Pathogenic/Likely_pathogenic
4	145650988	G	A	G145650988A	MMAA	NM_172250.3(MMAA):c.734-74G>A	noncoding	Benign
4	145651315	C	G	C145651315G	MMAA	NM_172250.3(MMAA):c.819+168C>G	noncoding	Benign
4	145651399	C	T	C145651399T	MMAA	NM_172250.3(MMAA):c.819+252C>T	noncoding	Benign
4	145653893	T	C	T145653893C	MMAA	NM_172250.3(MMAA):c.820-101T>C	noncoding	Benign
4	145654072	C	T	C145654072T	MMAA	NM_172250.3(MMAA):c.898C>T:p.Arg300Ter	coding	Pathogenic
4	145654931	A	T	A145654931T	MMAA	NM_172250.3(MMAA):c.970-216A>T	noncoding	Benign
4	146293940	T	C	T146293940C	SLC10A7	NM_001029998.6(SLC10A7):c.711A>G:p.Ile237Met	coding	Benign
4	146503962	A	T	A146503962T	SLC10A7	NM_001029998.6(SLC10A7):c.321-38T>A	noncoding	Benign
4	146510049	C	A	C146510049A	SLC10A7	NM_001029998.6(SLC10A7):c.184G>T:p.Glu62Ter	coding	Pathogenic
4	146517059	A	G	A146517059G	SLC10A7	NM_001029998.6(SLC10A7):c.162T>C:p.Ser54=	coding	Benign
4	146521700	T	G	T146521700G	SLC10A7	NM_001029998.6(SLC10A7):c.18A>C:p.Arg6Ser	coding	Benign
4	147485381	T	C	T147485381C	EDNRA	NM_001957.4(EDNRA):c.-70-231T>C	noncoding	Benign
4	147485705	A	G	A147485705G	EDNRA	NM_001957.4(EDNRA):c.24A>G:p.Ala8=	coding	Benign
4	147485937	A	G	A147485937G	EDNRA	NM_001957.4(EDNRA):c.256A>G:p.Ile86Val	coding	Benign
4	147486113	C	G	C147486113G	EDNRA	NM_001957.4(EDNRA):c.420+12C>G	noncoding	Benign
4	147486127	G	A	G147486127A	EDNRA	NM_001957.4(EDNRA):c.420+26G>A	noncoding	Benign
4	147519987	G	A	G147519987A	EDNRA	NM_001957.4(EDNRA):c.548+9G>A	noncoding	Benign
4	147536174	T	G	T147536174G	EDNRA	NM_001957.4(EDNRA):c.900+145T>G	noncoding	Benign
4	147536207	G	A	G147536207A	EDNRA	NM_001957.4(EDNRA):c.900+178G>A	noncoding	Benign
4	147539622	T	C	T147539622C	EDNRA	NM_001957.4(EDNRA):c.901-195T>C	noncoding	Benign
4	147539638	C	G	C147539638G	EDNRA	NM_001957.4(EDNRA):c.901-179C>G	noncoding	Benign
4	147539679	G	A	G147539679A	EDNRA	NM_001957.4(EDNRA):c.901-138G>A	noncoding	Benign
4	147539885	T	C	T147539885C	EDNRA	NM_001957.4(EDNRA):c.969T>C:p.His323=	coding	Benign
4	147539921	G	A	G147539921A	EDNRA	NM_001957.4(EDNRA):c.1005G>A:p.Glu335=	coding	Benign
4	147539969	G	A	G147539969A	EDNRA	NM_001957.4(EDNRA):c.1034+19G>A	noncoding	Benign
4	147540002	T	C	T147540002C	EDNRA	NM_001957.4(EDNRA):c.1034+52T>C	noncoding	Benign
4	147540226	G	A	G147540226A	EDNRA	NM_001957.4(EDNRA):c.1035-151G>A	noncoding	Benign
4	147540539	A	C	A147540539C	EDNRA	NM_001957.4(EDNRA):c.1143+54A>C	noncoding	Benign
4	147542593	G	C	G147542593C	EDNRA	NM_001957.4(EDNRA):c.1259G>C:p.Ser420Thr	coding	Benign
4	147542688	G	C	G147542688C	EDNRA	NM_001957.4(EDNRA):c.*70G>C	noncoding	Benign
4	148081690	T	C	T148081690C	NR3C2	NM_000901.5(NR3C2):c.2800-191A>G	noncoding	Benign
4	148114298	T	C	T148114298C	NR3C2	NM_000901.5(NR3C2):c.2642-37A>G	noncoding	Benign
4	148114436	G	T	G148114436T	NR3C2	NM_000901.5(NR3C2):c.2642-175C>A	noncoding	Benign
4	148119906	T	C	T148119906C	NR3C2	NM_000901.5(NR3C2):c.2641+252A>G	noncoding	Benign
4	148152404	C	T	C148152404T	NR3C2	NM_000901.5(NR3C2):c.2510+65G>A	noncoding	Benign
4	148154349	C	A	C148154349A	NR3C2	NM_000901.5(NR3C2):c.2365+202G>T	noncoding	Benign
4	148155044	A	G	A148155044G	NR3C2	NM_000901.5(NR3C2):c.2015-143T>C	noncoding	Benign
4	148194809	G	A	G148194809A	NR3C2	NM_000901.5(NR3C2):c.1951C>T:p.Arg651Ter	coding	Pathogenic/Likely_pathogenic
4	148194884	A	G	A148194884G	NR3C2	NM_000901.5(NR3C2):c.1898-22T>C	noncoding	Benign
4	148195008	T	C	T148195008C	NR3C2	NM_000901.5(NR3C2):c.1898-146A>G	noncoding	Benign
4	148259751	T	A	T148259751A	NR3C2	NM_000901.5(NR3C2):c.1897+227A>T	noncoding	Benign
4	148259823	G	A	G148259823A	NR3C2	NM_000901.5(NR3C2):c.1897+155C>T	noncoding	Benign
4	148260279	T	G	T148260279G	NR3C2	NM_000901.5(NR3C2):c.1758-162A>C	noncoding	Benign
4	148260405	T	C	T148260405C	NR3C2	NM_000901.5(NR3C2):c.1758-288A>G	noncoding	Benign
4	148434864	C	T	C148434864T	NR3C2	NM_000901.5(NR3C2):c.1757+240G>A	noncoding	Benign
4	150277671	T	A	T150277671A	LRBA	NM_001364905.1(LRBA):c.8468+182A>T	noncoding	Benign
4	150277721	C	T	C150277721T	LRBA	NM_001364905.1(LRBA):c.8468+132G>A	noncoding	Benign
4	150303098	C	T	C150303098T	LRBA	NM_001364905.1(LRBA):c.7850-306G>A	noncoding	Benign
4	150310676	A	G	A150310676G	LRBA	NM_001364905.1(LRBA):c.7694-292T>C	noncoding	Benign
4	150315346	C	T	C150315346T	LRBA	NM_001364905.1(LRBA):c.7693+215G>A	noncoding	Benign
4	150315536	G	A	G150315536A	LRBA	NM_001364905.1(LRBA):c.7693+25C>T	noncoding	Benign
4	150321160	C	T	C150321160T	LRBA	NM_001364905.1(LRBA):c.7630+31G>A	noncoding	Benign
4	150325880	G	A	G150325880A	LRBA	NM_001364905.1(LRBA):c.7381C>T:p.Arg2461Ter	coding	Pathogenic/Likely_pathogenic
4	150326084	C	T	C150326084T	LRBA	NM_001364905.1(LRBA):c.7363-186G>A	noncoding	Benign
4	150326142	C	A	C150326142A	LRBA	NM_001364905.1(LRBA):c.7363-244G>T	noncoding	Benign
4	150415130	G	A	G150415130A	LRBA	NM_001364905.1(LRBA):c.7194+308C>T	noncoding	Benign
4	150435575	A	C	A150435575C	LRBA	NM_001364905.1(LRBA):c.7041+14T>G	noncoding	Benign
4	150435621	G	A	G150435621A	LRBA	NM_001364905.1(LRBA):c.7009C>T:p.Arg2337Ter	coding	Pathogenic
4	150435982	C	T	C150435982T	LRBA	NM_001364905.1(LRBA):c.6922-274G>A	noncoding	Benign
4	150436446	G	C	G150436446C	LRBA	NM_001364905.1(LRBA):c.6921+278C>G	noncoding	Benign
4	150436664	G	C	G150436664C	LRBA	NM_001364905.1(LRBA):c.6921+60C>G	noncoding	Benign
4	150436736	C	T	C150436736T	LRBA	NM_001364905.1(LRBA):c.6909G>A:p.Trp2303Ter	coding	Pathogenic
4	150436793	T	C	T150436793C	LRBA	NM_001364905.1(LRBA):c.6852A>G:p.Gln2284=	coding	Benign
4	150468026	G	A	G150468026A	LRBA	NM_001364905.1(LRBA):c.6668-241C>T	noncoding	Benign
4	150471367	T	A	T150471367A	LRBA	NM_001364905.1(LRBA):c.6667+257A>T	noncoding	Benign
4	150471941	G	C	G150471941C	LRBA	NM_001364905.1(LRBA):c.6552-202C>G	noncoding	Benign
4	150487648	T	C	T150487648C	LRBA	NM_001364905.1(LRBA):c.6551+84A>G	noncoding	Benign
4	150491194	T	C	T150491194C	LRBA	NM_001364905.1(LRBA):c.6331-159A>G	noncoding	Benign
4	150582105	G	C	G150582105C	MAB21L2	NM_001364905.1(LRBA):c.6330+5943C>G	coding	Benign
4	150583910	C	A	C150583910A	MAB21L2	NM_006439.5(MAB21L2):c.881C>A:p.Ser294Ter	coding	Pathogenic
4	150584192	G	A	G150584192A	MAB21L2	NM_006439.5(MAB21L2):c.*83G>A	coding	Benign
4	150584223	T	C	T150584223C	MAB21L2	NM_006439.5(MAB21L2):c.*114T>C	coding	Benign
4	150590563	T	G	T150590563G	LRBA	NM_001364905.1(LRBA):c.6193+150A>C	noncoding	Benign
4	150599073	G	A	G150599073A	LRBA	NM_001364905.1(LRBA):c.5980C>T:p.Arg1994Ter	coding	Pathogenic
4	150683735	A	G	A150683735G	LRBA	NM_001364905.1(LRBA):c.5755-18T>C	noncoding	Benign
4	150735437	C	T	C150735437T	LRBA	NM_001364905.1(LRBA):c.5646-71G>A	noncoding	Benign
4	150761616	A	T	A150761616T	LRBA	NM_001364905.1(LRBA):c.5645+167T>A	noncoding	Benign
4	150761859	A	G	A150761859G	LRBA	NM_001364905.1(LRBA):c.5581-12T>C	noncoding	Benign
4	150806068	G	A	G150806068A	LRBA	NM_001364905.1(LRBA):c.5518+203C>T	noncoding	Benign
4	150828160	C	T	C150828160T	LRBA	NM_001364905.1(LRBA):c.5171+20G>A	noncoding	Benign/Likely_benign
4	150828440	G	A	G150828440A	LRBA	NM_001364905.1(LRBA):c.4911C>T:p.Ile1637=	coding	Benign
4	150844769	G	A	G150844769A	LRBA	NM_001364905.1(LRBA):c.4350C>T:p.Val1450=	coding	Benign
4	150848896	T	C	T150848896C	LRBA	NM_001364905.1(LRBA):c.4261A>G:p.Ser1421Gly	coding	Pathogenic
4	150850898	G	C	G150850898C	LRBA	NM_001364905.1(LRBA):c.3830C>G:p.Ser1277Ter	coding	Pathogenic
4	150851870	A	C	A150851870C	LRBA	NM_001364905.1(LRBA):c.3825+15T>G	noncoding	Benign/Likely_benign
4	150852437	T	C	T150852437C	LRBA	NM_001364905.1(LRBA):c.3273A>G:p.Ser1091=	coding	Benign
4	150870890	T	A	T150870890A	LRBA	NM_001364905.1(LRBA):c.2368-284A>T	noncoding	Benign
4	150872490	A	T	A150872490T	LRBA	NM_001364905.1(LRBA):c.2258+173T>A	noncoding	Benign
4	150872652	G	A	G150872652A	LRBA	NM_001364905.1(LRBA):c.2258+11C>T	noncoding	Benign
4	150896383	T	C	T150896383C	LRBA	NM_001364905.1(LRBA):c.2067+11A>G	noncoding	Benign
4	150900357	C	T	C150900357T	LRBA	NM_001364905.1(LRBA):c.1756-140G>A	noncoding	Benign
4	150900424	C	A	C150900424A	LRBA	NM_001364905.1(LRBA):c.1756-207G>T	noncoding	Benign
4	150900455	A	T	A150900455T	LRBA	NM_001364905.1(LRBA):c.1756-238T>A	noncoding	Benign
4	150905636	A	C	A150905636C	LRBA	NM_001364905.1(LRBA):c.1755+202T>G	noncoding	Benign
4	150905857	C	T	C150905857T	LRBA	NM_001364905.1(LRBA):c.1736G>A:p.Trp579Ter	coding	Pathogenic
4	150908507	T	C	T150908507C	LRBA	NM_001364905.1(LRBA):c.1360-40A>G	noncoding	Benign
4	150908672	T	C	T150908672C	LRBA	NM_001364905.1(LRBA):c.1347A>G:p.Ala449=	coding	Benign
4	150914500	T	C	T150914500C	LRBA	NM_001364905.1(LRBA):c.1015-159A>G	noncoding	Benign
4	150916892	G	A	G150916892A	LRBA	NM_001364905.1(LRBA):c.646-154C>T	noncoding	Benign
4	150917002	A	C	A150917002C	LRBA	NM_001364905.1(LRBA):c.646-264T>G	noncoding	Benign
4	150921401	G	C	G150921401C	LRBA	NM_001364905.1(LRBA):c.550-108C>G	noncoding	Benign
4	150928833	C	A	C150928833A	LRBA	NM_001364905.1(LRBA):c.448+1G>T	noncoding	Pathogenic
4	150928967	C	T	C150928967T	LRBA	NM_001364905.1(LRBA):c.315G>A:p.Thr105=	coding	Benign
4	150929372	T	G	T150929372G	LRBA	NM_001364905.1(LRBA):c.217-307A>C	noncoding	Benign
4	151014997	C	T	C151014997T	LRBA	NM_001364905.1(LRBA):c.-219-136G>A	noncoding	Benign
4	151015052	A	G	A151015052G	LRBA	NM_001364905.1(LRBA):c.-220+150T>C	noncoding	Benign
4	151671039	T	C	T151671039C	GATB	NM_004564.3(GATB):c.*135A>G	noncoding	Benign
4	151679994	T	G	T151679994G	GATB	NM_004564.3(GATB):c.1332-103A>C	noncoding	Benign
4	151688404	C	A	C151688404A	GATB	NM_004564.3(GATB):c.1331+226G>T	noncoding	Benign
4	151688542	A	G	A151688542G	GATB	NM_004564.3(GATB):c.1331+88T>C	noncoding	Benign
4	151688548	A	C	A151688548C	GATB	NM_004564.3(GATB):c.1331+82T>G	noncoding	Benign
4	151688632	C	T	C151688632T	GATB	NM_004564.3(GATB):c.1329G>A:p.Glu443=	coding	Benign
4	151688965	T	C	T151688965C	GATB	NM_004564.3(GATB):c.1198-202A>G	noncoding	Benign
4	151703820	A	G	A151703820G	GATB	NM_004564.3(GATB):c.1007+31T>C	noncoding	Benign
4	151716076	C	T	C151716076T	GATB	NM_004564.3(GATB):c.696G>A:p.Ala232=	coding	Benign
4	151719235	C	T	C151719235T	GATB	NM_004564.3(GATB):c.441+190G>A	noncoding	Benign
4	151758570	A	G	A151758570G	GATB	NM_004564.3(GATB):c.327+202T>C	noncoding	Benign
4	151758664	A	G	A151758664G	GATB	NM_004564.3(GATB):c.327+108T>C	noncoding	Benign
4	151760800	A	G	A151760800G	GATB	NM_004564.3(GATB):c.176+7T>C	noncoding	Benign
4	151760894	G	T	G151760894T	GATB	NM_004564.3(GATB):c.89C>A:p.Ala30Asp	coding	Benign
4	151761245	G	A	G151761245A	GATB	Single_allele	noncoding	Benign
4	152322939	C	T	C152322939T	FBXW7	NM_001349798.2(FBXW7):c.2066G>A:p.Arg689Gln	coding	Pathogenic
4	152322985	G	A	G152322985A	FBXW7	NM_001349798.2(FBXW7):c.2020C>T:p.Arg674Trp	coding	Pathogenic
4	152324117	G	A	G152324117A	FBXW7	NM_001349798.2(FBXW7):c.1855+67C>T	noncoding	Benign
4	152328359	C	T	C152328359T	FBXW7	NM_001349798.2(FBXW7):c.1267G>A:p.Gly423Arg	coding	Pathogenic
4	152330909	A	G	A152330909G	FBXW7	NM_001349798.2(FBXW7):c.986-41T>C	noncoding	Benign
4	152335693	T	C	T152335693C	FBXW7	NM_001349798.2(FBXW7):c.861+2109A>G	noncoding	Benign
4	152346816	A	G	A152346816G	FBXW7	NM_001349798.2(FBXW7):c.726+114T>C	noncoding	Benign
4	152346986	G	A	G152346986A	FBXW7	NM_001349798.2(FBXW7):c.670C>T:p.Arg224Ter	coding	Pathogenic
4	152349958	A	C	A152349958C	FBXW7	NM_001349798.2(FBXW7):c.584+84T>G	noncoding	Benign
4	152382609	C	T	C152382609T	FBXW7	NM_001349798.2(FBXW7):c.501+28694G>A	noncoding	Benign
4	152411228	T	G	T152411228G	FBXW7	NM_001349798.2(FBXW7):c.501+75A>C	coding	Benign
4	152411948	T	A	T152411948A	FBXW7	NM_001349798.2(FBXW7):c.-69-76A>T	noncoding	Benign
4	153204283	T	C	T153204283C	TRIM2	NM_001130067.2(TRIM2):c.-49+51013T>C	noncoding	Benign
4	153204846	T	C	T153204846C	TRIM2	NM_015271.5(TRIM2):c.30+286T>C	noncoding	Benign
4	153270558	G	A	G153270558A	TRIM2	NM_015271.5(TRIM2):c.215+39G>A	noncoding	Benign
4	153270736	G	A	G153270736A	TRIM2	NM_015271.5(TRIM2):c.215+217G>A	noncoding	Benign
4	153276082	T	G	T153276082G	TRIM2	NM_015271.5(TRIM2):c.405T>G:p.Thr135=	coding	Benign
4	153295111	G	T	G153295111T	TRIM2	NM_015271.5(TRIM2):c.787-202G>T	noncoding	Benign
4	153295525	G	A	G153295525A	TRIM2	NM_015271.5(TRIM2):c.999G>A:p.Glu333=	coding	Benign
4	153295558	G	A	G153295558A	TRIM2	NM_015271.5(TRIM2):c.1032G>A:p.Thr344=	coding	Benign
4	153315336	T	C	T153315336C	TRIM2	NM_015271.5(TRIM2):c.1511-149T>C	noncoding	Benign
4	153315637	T	G	T153315637G	TRIM2	NM_015271.5(TRIM2):c.1614+49T>G	noncoding	Benign
4	153322509	A	G	A153322509G	TRIM2	NM_015271.5(TRIM2):c.1783-139A>G	noncoding	Benign
4	153323039	T	C	T153323039C	TRIM2	NM_015271.5(TRIM2):c.1951+223T>C	noncoding	Benign
4	153323040	C	T	C153323040T	TRIM2	NM_015271.5(TRIM2):c.1951+224C>T	noncoding	Benign
4	153323801	T	C	T153323801C	TRIM2	NM_015271.5(TRIM2):c.1952-277T>C	noncoding	Benign
4	153324161	C	T	C153324161T	TRIM2	NM_015271.5(TRIM2):c.2022+13C>T	noncoding	Benign
4	154562556	G	A	G154562556A	FGB	NG_008833.1:g.4577G>A	noncoding	Benign
4	154562762	C	T	C154562762T	FGB	Single_allele	noncoding	Benign
4	154562863	C	T	C154562863T	FGB	NG_008833.1:g.4884C>T	noncoding	Benign
4	154563359	G	A	G154563359A	FGB	NM_005141.5(FGB):c.114+227G>A	noncoding	Benign
4	154565229	C	T	C154565229T	FGB	NM_005141.5(FGB):c.115-579C>T	noncoding	Benign
4	154565318	T	A	T154565318A	FGB	NM_005141.5(FGB):c.115-490T>A	noncoding	Benign
4	154565494	T	C	T154565494C	FGB	NM_005141.5(FGB):c.115-314T>C	noncoding	Benign
4	154566069	G	C	G154566069C	FGB	NM_005141.5(FGB):c.306+70G>C	noncoding	Benign
4	154566832	C	T	C154566832T	FGB	NM_005141.5(FGB):c.490+160C>T	noncoding	Benign
4	154566920	A	T	A154566920T	FGB	NM_005141.5(FGB):c.490+248A>T	noncoding	Benign
4	154567933	A	G	A154567933G	FGB	NM_005141.5(FGB):c.718+113A>G	noncoding	Benign
4	154567943	A	G	A154567943G	FGB	NM_005141.5(FGB):c.718+123A>G	noncoding	Benign
4	154570005	G	A	G154570005A	FGB	NM_005141.5(FGB):c.1244+206G>A	noncoding	Benign
4	154583796	G	A	G154583796A	FGA	NM_000508.5(FGA):c.*328C>T	noncoding	Benign
4	154586711	G	A	G154586711A	FGA	NM_021871.4(FGA):c.718C>T:p.Gln240Ter	coding	Pathogenic
4	154587452	C	T	C154587452T	FGA	NM_021871.4(FGA):c.510+60G>A	noncoding	Benign
4	154587475	G	A	G154587475A	FGA	NM_021871.4(FGA):c.510+37C>T	noncoding	Benign
4	154587574	G	A	G154587574A	FGA	NM_021871.4(FGA):c.448C>T:p.Gln150Ter	coding	Pathogenic
4	154588792	C	T	C154588792T	FGA	NM_021871.4(FGA):c.364+1G>A	noncoding	Pathogenic
4	154589072	A	T	A154589072T	FGA	NM_021871.4(FGA):c.181-96T>A	noncoding	Benign
4	154589124	C	T	C154589124T	FGA	NM_021871.4(FGA):c.181-148G>A	noncoding	Benign
4	154589162	A	G	A154589162G	FGA	NM_021871.4(FGA):c.181-186T>C	noncoding	Benign
4	154589314	C	T	C154589314T	FGA	NM_021871.4(FGA):c.180+123G>A	noncoding	Benign
4	154604393	A	T	A154604393T	FGG	NM_021870.3(FGG):c.*441T>A	noncoding	Benign
4	154604543	G	A	G154604543A	FGG	NM_021870.3(FGG):c.*291C>T	noncoding	Benign
4	154605993	C	T	C154605993T	FGG	NM_021870.3(FGG):c.1129+712G>A	noncoding	Benign
4	154606073	T	C	T154606073C	FGG	FIBRINOGEN_PARIS_1	noncoding	Pathogenic
4	154606284	C	T	C154606284T	FGG	NM_021870.3(FGG):c.1129+421G>A	noncoding	Benign
4	154606827	A	G	A154606827G	FGG	NM_021870.2(FGG):c.1007T>C:p.Met336Thr	coding	Pathogenic
4	154609806	G	A	G154609806A	FGG	NM_021870.3(FGG):c.533-43C>T	noncoding	Benign
4	154744465	C	T	C154744465T	LRAT	NM_004744.5(LRAT):c.139C>T:p.Arg47Ter	coding	Pathogenic/Likely_pathogenic
4	154744489	C	G	C154744489G	LRAT	NM_004744.5(LRAT):c.163C>G:p.Arg55Gly	coding	Pathogenic/Likely_pathogenic
4	154744830	C	A	C154744830A	LRAT	NM_004744.5(LRAT):c.504C>A:p.Cys168Ter	coding	Pathogenic
4	154749086	A	G	A154749086G	LRAT	NM_004744.5(LRAT):c.643A>G:p.Thr215Ala	coding	Benign
4	155697037	A	C	A155697037C	GUCY1A1	NM_001130682.3(GUCY1A1):c.170A>C:p.Glu57Ala	coding	Benign
4	155710690	T	C	T155710690C	GUCY1A1	NM_001130682.3(GUCY1A1):c.525T>C:p.His175=	coding	Benign
4	155711239	A	G	A155711239G	GUCY1A1	NM_001130682.3(GUCY1A1):c.1074A>G:p.Lys358=	coding	Benign
4	155714157	G	A	G155714157A	GUCY1A1	NM_001130682.3(GUCY1A1):c.1572+574G>A	noncoding	Benign
4	155722024	T	A	T155722024A	GUCY1A1	NM_001130682.3(GUCY1A1):c.1717-14T>A	noncoding	Benign
4	155722031	C	A	C155722031A	GUCY1A1	NM_001130682.3(GUCY1A1):c.1717-7C>A	noncoding	Benign
4	157078376	T	C	T157078376C	GLRB	NM_000824.5(GLRB):c.122+230T>C	noncoding	Benign
4	157120439	G	A	G157120439A	GLRB	NM_000824.5(GLRB):c.123-117G>A	noncoding	Benign
4	157120744	G	A	G157120744A	GLRB	NM_000824.5(GLRB):c.229+82G>A	noncoding	Benign
4	157120800	T	C	T157120800C	GLRB	NM_000824.5(GLRB):c.229+138T>C	noncoding	Benign
4	157120816	A	G	A157120816G	GLRB	NM_000824.5(GLRB):c.229+154A>G	noncoding	Benign
4	157122132	C	T	C157122132T	GLRB	NM_000824.5(GLRB):c.230-198C>T	noncoding	Benign
4	157122165	C	T	C157122165T	GLRB	NM_000824.5(GLRB):c.230-165C>T	noncoding	Benign
4	157122468	T	C	T157122468C	GLRB	NM_000824.5(GLRB):c.297+71T>C	noncoding	Benign
4	157122483	C	T	C157122483T	GLRB	NM_000824.5(GLRB):c.297+86C>T	noncoding	Benign
4	157136891	G	A	G157136891A	GLRB	NM_000824.5(GLRB):c.610+5G>A	noncoding	Pathogenic/Likely_pathogenic
4	157138743	A	G	A157138743G	GLRB	NM_000824.5(GLRB):c.611-66A>G	noncoding	Benign
4	157138825	T	A	T157138825A	GLRB	NM_000824.5(GLRB):c.627T>A:p.Asp209Glu	coding	Benign
4	157138832	C	T	C157138832T	GLRB	NM_000824.5(GLRB):c.634C>T:p.Arg212Ter	coding	Pathogenic
4	157143886	T	C	T157143886C	GLRB	NM_000824.5(GLRB):c.831T>C:p.Thr277=	coding	Benign
4	157152927	C	T	C157152927T	GLRB	NM_000824.5(GLRB):c.1114C>T:p.Gln372Ter	coding	Pathogenic
4	157153206	G	A	G157153206A	GLRB	NM_000824.5(GLRB):c.1197+196G>A	noncoding	Benign
4	157170416	C	A	C157170416A	GLRB	NM_000824.5(GLRB):c.1198-16C>A	noncoding	Benign
4	157317678	T	C	T157317678C	GRIA2	NM_001083619.3(GRIA2):c.687T>C:p.His229=	coding	Benign
4	157317690	C	A	C157317690A	GRIA2	NM_001083619.3(GRIA2):c.699C>A:p.Tyr233Ter	coding	Pathogenic
4	157341346	G	A	G157341346A	GRIA2	NM_001083619.3(GRIA2):c.1927G>A:p.Ala643Thr	coding	Pathogenic
4	157359877	C	T	C157359877T	GRIA2	NM_001083619.3(GRIA2):c.2044-19C>T	noncoding	Benign
4	158671796	G	T	G158671796T	ETFDH	NM_001008393.4(C4orf46):c.6C>A:p.Ala2=	coding	Benign
4	158680530	G	A	G158680530A	ETFDH	NM_004453.4(ETFDH):c.98G>A:p.Trp33Ter	coding	Pathogenic
4	158682270	C	T	C158682270T	ETFDH	NM_004453.4(ETFDH):c.251C>T:p.Ala84Val	coding	Pathogenic
4	158682284	C	T	C158682284T	ETFDH	NM_004453.4(ETFDH):c.265C>T:p.Gln89Ter	coding	Pathogenic
4	158682288	T	A	T158682288A	ETFDH	NM_004453.4(ETFDH):c.269T>A:p.Leu90Ter	coding	Pathogenic
4	158682363	C	G	C158682363G	ETFDH	NM_004453.4(ETFDH):c.344C>G:p.Ser115Ter	coding	Pathogenic
4	158682408	A	T	A158682408T	ETFDH	NM_004453.4(ETFDH):c.389A>T:p.Asp130Val	coding	Pathogenic
4	158684649	A	T	A158684649T	ETFDH	NM_004453.4(ETFDH):c.463A>T:p.Arg155Ter	coding	Pathogenic
4	158697599	T	G	T158697599G	ETFDH	NM_004453.4(ETFDH):c.872T>G:p.Val291Gly	coding	Pathogenic
4	158697619	C	T	C158697619T	ETFDH	NM_004453.4(ETFDH):c.892C>T:p.Pro298Ser	coding	Pathogenic
4	158697673	G	T	G158697673T	ETFDH	NM_004453.4(ETFDH):c.946G>T:p.Glu316Ter	coding	Pathogenic
4	158698883	A	C	A158698883C	ETFDH	NM_004453.4(ETFDH):c.973-104A>C	noncoding	Benign
4	158699006	A	T	A158699006T	ETFDH	NM_004453.4(ETFDH):c.992A>T:p.Asn331Ile	coding	Pathogenic
4	158699013	C	A	C158699013A	ETFDH	NM_004453.4(ETFDH):c.999C>A:p.Tyr333Ter	coding	Pathogenic
4	158699096	A	G	A158699096G	ETFDH	NM_004453.4(ETFDH):c.1082A>G:p.Tyr361Cys	coding	Pathogenic/Likely_pathogenic
4	158699202	T	C	T158699202C	ETFDH	NM_004453.4(ETFDH):c.1116+72T>C	noncoding	Benign
4	158699271	A	G	A158699271G	ETFDH	NM_004453.4(ETFDH):c.1116+141A>G	noncoding	Benign
4	158703447	G	C	G158703447C	ETFDH	NM_004453.4(ETFDH):c.1141G>C:p.Gly381Arg	coding	Pathogenic
4	158703517	T	C	T158703517C	ETFDH	NM_004453.4(ETFDH):c.1211T>C:p.Met404Thr	coding	Pathogenic
4	158703533	A	C	A158703533C	ETFDH	NM_004453.4(ETFDH):c.1227A>C:p.Leu409Phe	coding	Pathogenic
4	158703593	T	G	T158703593G	ETFDH	NM_004453.4(ETFDH):c.1285+2T>G	noncoding	Pathogenic
4	158706236	T	C	T158706236C	ETFDH	NM_004453.4(ETFDH):c.1333T>C:p.Trp445Arg	coding	Pathogenic
4	158706242	G	T	G158706242T	ETFDH	NM_004453.4(ETFDH):c.1339G>T:p.Glu447Ter	coding	Pathogenic
4	158706281	G	T	G158706281T	ETFDH	NM_004453.4(ETFDH):c.1378G>T:p.Gly460Ter	coding	Pathogenic
4	158706298	T	G	T158706298G	ETFDH	NM_004453.4(ETFDH):c.1395T>G:p.Tyr465Ter	coding	Pathogenic
4	158706302	G	C	G158706302C	ETFDH	NM_004453.4(ETFDH):c.1399G>C:p.Gly467Arg	coding	Pathogenic
4	158706336	T	A	T158706336A	ETFDH	NM_004453.4(ETFDH):c.1433T>A:p.Leu478Ter	coding	Pathogenic
4	158706647	T	C	T158706647C	ETFDH	NM_004453.4(ETFDH):c.1487T>C:p.Leu496Pro	coding	Pathogenic
4	158706682	C	A	C158706682A	ETFDH	NM_004453.4(ETFDH):c.1522C>A:p.Pro508Thr	coding	Pathogenic
4	158706826	C	T	C158706826T	ETFDH	NM_004453.4(ETFDH):c.1666C>T:p.Pro556Ser	coding	Pathogenic
4	158706851	G	T	G158706851T	ETFDH	NM_004453.4(ETFDH):c.1690+1G>T	coding	Pathogenic
4	158708372	G	T	G158708372T	ETFDH	NM_004453.4(ETFDH):c.1699G>T:p.Glu567Ter	coding	Pathogenic
4	158708436	A	G	A158708436G	ETFDH	NM_004453.4(ETFDH):c.1763A>G:p.His588Arg	coding	Pathogenic
4	159238797	C	A	C159238797A	RAPGEF2	NM_001394067.2(RAPGEF2):c.282-12C>A	noncoding	Benign
4	159356124	C	T	C159356124T	RAPGEF2	NM_001394067.2(RAPGEF2):c.4923C>T:p.Pro1641=	coding	Benign
4	163129034	C	T	C163129034T	NAF1	NM_138386.3(NAF1):c.1348G>A:p.Gly450Ser	coding	Benign
4	163164273	T	C	T163164273C	NAF1	NM_138386.3(NAF1):c.484A>G:p.Ile162Val	coding	Benign
4	163166462	G	A	G163166462A	NAF1	NM_138386.3(NAF1):c.266C>T:p.Ser89Leu	coding	Benign
4	163166645	G	A	G163166645A	NAF1	NM_138386.3(NAF1):c.83C>T:p.Ala28Val	coding	Benign
4	165333022	C	G	C165333022G	MSMO1	NM_006745.5(MSMO1):c.-31-318C>G	noncoding	Benign
4	165333201	C	G	C165333201G	MSMO1	NM_006745.5(MSMO1):c.-31-139C>G	noncoding	Benign
4	165333801	A	C	A165333801C	MSMO1	NM_006745.5(MSMO1):c.255+176A>C	noncoding	Benign
4	165333821	A	G	A165333821G	MSMO1	NM_006745.5(MSMO1):c.255+196A>G	noncoding	Benign
4	165337753	G	A	G165337753A	MSMO1	NM_006745.5(MSMO1):c.256-36G>A	noncoding	Benign
4	165338329	T	C	T165338329C	MSMO1	NM_006745.5(MSMO1):c.405-323T>C	noncoding	Benign
4	165338355	T	C	T165338355C	MSMO1	NM_006745.5(MSMO1):c.405-297T>C	noncoding	Benign
4	165338491	C	T	C165338491T	MSMO1	NM_006745.5(MSMO1):c.405-161C>T	noncoding	Benign
4	165338567	T	G	T165338567G	MSMO1	NM_006745.5(MSMO1):c.405-85T>G	noncoding	Benign
4	165340092	T	C	T165340092C	MSMO1	NM_006745.5(MSMO1):c.532-129T>C	noncoding	Benign
4	165340437	A	G	A165340437G	MSMO1	NM_006745.5(MSMO1):c.686+62A>G	noncoding	Benign
4	165340457	G	T	G165340457T	MSMO1	NM_006745.5(MSMO1):c.686+82G>T	noncoding	Benign
4	165340648	T	C	T165340648C	MSMO1	NM_006745.5(MSMO1):c.686+273T>C	noncoding	Benign
4	165341589	C	A	C165341589A	MSMO1	NM_006745.5(MSMO1):c.687-162C>A	noncoding	Benign
4	165341712	G	A	G165341712A	MSMO1	NM_006745.5(MSMO1):c.687-39G>A	noncoding	Benign
4	165341895	G	A	G165341895A	MSMO1	NM_006745.5(MSMO1):c.831G>A:p.Gln277=	coding	Benign
4	165342061	A	G	A165342061G	MSMO1	NM_006745.5(MSMO1):c.*115A>G	noncoding	Benign
4	165342188	A	G	A165342188G	MSMO1	NM_006745.5(MSMO1):c.*242A>G	noncoding	Benign
4	165464443	C	T	C165464443T	CPE	NM_001873.4(CPE):c.361C>T:p.Arg121Ter	coding	Pathogenic
4	165464487	C	A	C165464487A	CPE	NM_001873.4(CPE):c.405C>A:p.Tyr135Ter	coding	Pathogenic
4	165467861	G	A	G165467861A	CPE	NM_001873.4(CPE):c.672+6G>A	noncoding	Benign
4	165484432	C	T	C165484432T	CPE	NM_001873.4(CPE):c.801C>T:p.His267=	coding	Benign
4	165484518	A	G	A165484518G	CPE	NM_001873.4(CPE):c.887A>G:p.Asn296Ser	coding	Benign
4	165493195	G	A	G165493195A	CPE	NM_001873.4(CPE):c.1138G>A:p.Val380Ile	coding	Benign
4	165493234	A	G	A165493234G	CPE	NM_001873.4(CPE):c.1177A>G:p.Ile393Val	coding	Benign
4	165495641	A	C	A165495641C	CPE	NM_001873.4(CPE):c.1296A>C:p.Thr432=	coding	Benign
4	165497601	A	G	A165497601G	CPE	NM_001873.4(CPE):c.1422A>G:p.Leu474=	coding	Benign
4	165873677	T	C	T165873677C	TLL1	NM_012464.5(TLL1):c.-228T>C	noncoding	Benign
4	165994701	G	A	G165994701A	TLL1	NM_012464.5(TLL1):c.514+168G>A	noncoding	Benign
4	166003575	A	G	A166003575G	TLL1	NM_012464.5(TLL1):c.811+6A>G	noncoding	Benign/Likely_benign
4	166007759	C	A	C166007759A	TLL1	NM_012464.5(TLL1):c.812-184C>A	noncoding	Benign
4	166008124	A	G	A166008124G	TLL1	NM_012464.5(TLL1):c.917+76A>G	noncoding	Benign
4	166025623	G	A	G166025623A	TLL1	NM_012464.5(TLL1):c.1158+192G>A	noncoding	Benign
4	166039211	G	A	G166039211A	TLL1	NM_012464.5(TLL1):c.1159-128G>A	noncoding	Benign
4	166054913	A	C	A166054913C	TLL1	NM_012464.5(TLL1):c.1525-163A>C	noncoding	Benign
4	166059815	A	C	A166059815C	TLL1	NM_012464.5(TLL1):c.1847-213A>C	noncoding	Benign
4	166059892	G	A	G166059892A	TLL1	NM_012464.5(TLL1):c.1847-136G>A	noncoding	Benign
4	166060491	A	G	A166060491G	TLL1	NM_012464.5(TLL1):c.2007+303A>G	noncoding	Benign
4	166065541	A	G	A166065541G	TLL1	NM_012464.5(TLL1):c.2008-142A>G	noncoding	Benign
4	166065973	A	G	A166065973G	TLL1	NM_012464.5(TLL1):c.2188+110A>G	noncoding	Benign
4	166075195	A	G	A166075195G	TLL1	NM_012464.5(TLL1):c.2314+192A>G	noncoding	Benign
4	166075262	G	A	G166075262A	TLL1	NM_012464.5(TLL1):c.2314+259G>A	noncoding	Benign
4	166090911	G	A	G166090911A	TLL1	NM_012464.5(TLL1):c.2443-217G>A	noncoding	Benign
4	166091097	T	A	T166091097A	TLL1	NM_012464.5(TLL1):c.2443-31T>A	noncoding	Benign
4	166091098	T	A	T166091098A	TLL1	NM_012464.5(TLL1):c.2443-30T>A	noncoding	Benign
4	166091391	T	C	T166091391C	TLL1	NM_012464.5(TLL1):c.2656+50T>C	noncoding	Benign
4	166091529	T	C	T166091529C	TLL1	NM_012464.5(TLL1):c.2656+188T>C	noncoding	Benign
4	166099172	C	T	C166099172T	TLL1	NM_012464.5(TLL1):c.2657-105C>T	noncoding	Benign
4	166099492	A	G	A166099492G	TLL1	NM_012464.5(TLL1):c.2872A>G:p.Thr958Ala	coding	Benign
4	166100528	G	A	G166100528A	TLL1	NM_012464.5(TLL1):c.2908-214G>A	noncoding	Benign
4	168496974	G	A	G168496974A	PALLD	Single_allele	noncoding	Benign
4	168497281	T	C	T168497281C	PALLD	NM_001166108.2(PALLD):c.-83+87T>C	noncoding	Benign
4	168511143	C	T	C168511143T	PALLD	NM_001166108.2(PALLD):c.-82-280C>T	noncoding	Benign
4	168511192	T	C	T168511192C	PALLD	NM_001166108.2(PALLD):c.-82-231T>C	noncoding	Benign
4	168668063	T	C	T168668063C	PALLD	NM_001166108.2(PALLD):c.909-127T>C	noncoding	Benign
4	168668527	C	T	C168668527T	PALLD	NM_001166108.2(PALLD):c.1087+159C>T	noncoding	Benign
4	168681221	C	T	C168681221T	PALLD	NM_001166108.2(PALLD):c.1088-111C>T	noncoding	Benign
4	168682951	G	A	G168682951A	PALLD	NM_001166108.2(PALLD):c.1155-47G>A	noncoding	Benign
4	168682989	A	G	A168682989G	PALLD	NM_001166108.2(PALLD):c.1155-9A>G	noncoding	Benign
4	168685221	G	A	G168685221A	PALLD	NM_001166108.2(PALLD):c.1261-264G>A	noncoding	Benign
4	168685617	C	T	C168685617T	PALLD	NM_001166108.2(PALLD):c.1335+58C>T	noncoding	Benign
4	168685627	C	T	C168685627T	PALLD	NM_001166108.2(PALLD):c.1335+68C>T	noncoding	Benign
4	168685702	A	G	A168685702G	PALLD	NM_001166108.2(PALLD):c.1335+143A>G	noncoding	Benign
4	168685722	G	A	G168685722A	PALLD	NM_001166108.2(PALLD):c.1335+163G>A	noncoding	Benign
4	168690911	C	T	C168690911T	PALLD	NM_001166108.2(PALLD):c.1477+167C>T	noncoding	Benign
4	168691377	C	T	C168691377T	PALLD	NM_001166108.2(PALLD):c.1501+85C>T	noncoding	Benign
4	168756241	A	G	A168756241G	PALLD	NM_001166108.2(PALLD):c.1964+44318A>G	noncoding	Benign
4	168832028	A	C	A168832028C	PALLD	NM_001166108.2(PALLD):c.1965-58894A>C	coding	Benign
4	168832062	G	A	G168832062A	PALLD	NM_001166108.2(PALLD):c.1965-58860G>A	coding	Benign
4	168877827	C	A	C168877827A	PALLD	NM_001166108.2(PALLD):c.1965-13095C>A	coding	Benign
4	168878328	T	G	T168878328G	PALLD	NM_001166108.2(PALLD):c.1965-12594T>G	coding	Benign
4	168878392	C	T	C168878392T	PALLD	NM_001166108.2(PALLD):c.1965-12530C>T	coding	Benign
4	168878475	C	T	C168878475T	PALLD	NM_001166108.2(PALLD):c.1965-12447C>T	noncoding	Benign
4	168878683	G	T	G168878683T	PALLD	NM_001166108.2(PALLD):c.1965-12239G>T	noncoding	Benign
4	168890606	T	C	T168890606C	PALLD	NM_001166108.2(PALLD):c.1965-316T>C	noncoding	Benign
4	168890912	T	A	T168890912A	PALLD	NM_001166108.2(PALLD):c.1965-10T>A	noncoding	Benign
4	168891098	C	T	C168891098T	PALLD	NM_001166108.2(PALLD):c.2100+41C>T	noncoding	Benign
4	168891162	T	C	T168891162C	PALLD	NM_001166108.2(PALLD):c.2100+105T>C	noncoding	Benign
4	168894321	T	G	T168894321G	PALLD	NM_001166108.2(PALLD):c.2101-258T>G	noncoding	Benign
4	168894685	G	A	G168894685A	PALLD	NM_001166108.2(PALLD):c.2199+8G>A	noncoding	Benign/Likely_benign
4	168894954	A	T	A168894954T	PALLD	NM_001166108.2(PALLD):c.2199+277A>T	noncoding	Benign
4	168898438	G	A	G168898438A	PALLD	NM_001166108.2(PALLD):c.2251-55G>A	noncoding	Benign
4	168898727	A	G	A168898727G	PALLD	NM_001166108.2(PALLD):c.2472+13A>G	noncoding	Benign
4	168913897	C	G	C168913897G	PALLD	NM_001166108.2(PALLD):c.2623-30C>G	noncoding	Benign
4	168914173	T	G	T168914173G	PALLD	NM_001166108.2(PALLD):c.2717+152T>G	noncoding	Benign
4	168915810	T	C	T168915810C	PALLD	NM_001166108.2(PALLD):c.2718-85T>C	noncoding	Benign
4	168921769	C	G	C168921769G	PALLD	NM_001166108.2(PALLD):c.3058+28C>G	noncoding	Benign
4	168921825	T	C	T168921825C	PALLD	NM_001166108.2(PALLD):c.3058+84T>C	noncoding	Benign
4	168921891	A	T	A168921891T	PALLD	NM_001166108.2(PALLD):c.3058+150A>T	noncoding	Benign
4	168924569	C	T	C168924569T	PALLD	NM_001166108.2(PALLD):c.3224+149C>T	noncoding	Benign
4	168925104	T	C	T168925104C	PALLD	NM_001166108.2(PALLD):c.3358+26T>C	noncoding	Benign
4	169401422	G	C	G169401422C	NEK1	NM_001199397.3(NEK1):c.3583+230C>G	noncoding	Benign
4	169401962	C	T	C169401962T	NEK1	NM_001199397.3(NEK1):c.3375-102G>A	noncoding	Benign
4	169406633	C	A	C169406633A	NEK1	NM_001199397.3(NEK1):c.3337G>T:p.Glu1113Ter	coding	Pathogenic
4	169424481	T	A	T169424481A	NEK1	NM_001199397.3(NEK1):c.3222+72A>T	noncoding	Benign
4	169424584	G	C	G169424584C	NEK1	NM_001199397.3(NEK1):c.3191C>G:p.Ser1064Ter	coding	Pathogenic
4	169433453	T	C	T169433453C	NEK1	NM_001199397.3(NEK1):c.2885+92A>G	noncoding	Benign
4	169433722	T	C	T169433722C	NEK1	NM_001199397.3(NEK1):c.2765-57A>G	noncoding	Benign
4	169438121	G	C	G169438121C	NEK1	NM_001199397.3(NEK1):c.2726C>G:p.Ser909Cys	coding	Benign/Likely_benign
4	169438325	T	C	T169438325C	NEK1	NM_001199397.3(NEK1):c.2588-66A>G	noncoding	Benign
4	169479453	G	A	G169479453A	NEK1	NM_001199397.3(NEK1):c.2089C>T:p.Gln697Ter	coding	Pathogenic
4	169507087	G	A	G169507087A	NEK1	NM_001199397.3(NEK1):c.1957C>T:p.Arg653Ter	coding	Pathogenic
4	169507201	G	T	G169507201T	NEK1	NM_001199397.3(NEK1):c.1912-69C>A	noncoding	Benign
4	169507202	G	T	G169507202T	NEK1	NM_001199397.3(NEK1):c.1912-70C>A	noncoding	Benign
4	169509112	G	C	G169509112C	NEK1	NM_001199397.3(NEK1):c.1666-260C>G	noncoding	Benign
4	169537826	G	A	G169537826A	NEK1	NM_001199397.3(NEK1):c.1648C>T:p.Arg550Ter	coding	Pathogenic
4	169556300	G	C	G169556300C	NEK1	NM_001199397.3(NEK1):c.1267-205C>G	noncoding	Benign
4	169556373	T	C	T169556373C	NEK1	NM_001199397.3(NEK1):c.1267-278A>G	noncoding	Benign
4	169556411	A	G	A169556411G	NEK1	NM_001199397.3(NEK1):c.1267-316T>C	noncoding	Benign
4	169561203	C	T	C169561203T	NEK1	NM_001199397.3(NEK1):c.1266+277G>A	noncoding	Benign
4	169561751	A	G	A169561751G	NEK1	NM_001199397.3(NEK1):c.1141-14T>C	noncoding	Benign
4	169561843	G	A	G169561843A	NEK1	NM_001199397.3(NEK1):c.1129C>T:p.Gln377Ter	coding	Pathogenic
4	169562002	T	A	T169562002A	NEK1	NM_001199397.3(NEK1):c.1081-111A>T	noncoding	Benign
4	169562117	C	T	C169562117T	NEK1	NM_001199397.3(NEK1):c.1080+20G>A	noncoding	Benign/Likely_benign
4	169576640	A	C	A169576640C	NEK1	NM_001199397.3(NEK1):c.1020+288T>G	noncoding	Benign
4	169580678	G	A	G169580678A	NEK1	NM_001199397.3(NEK1):c.868+164C>T	noncoding	Benign
4	169580820	C	T	C169580820T	NEK1	NM_001199397.3(NEK1):c.868+22G>A	noncoding	Benign
4	169587300	T	C	T169587300C	NEK1	NM_001199397.3(NEK1):c.606+259A>G	noncoding	Benign
4	169588413	C	T	C169588413T	NEK1	NM_001199397.3(NEK1):c.551+236G>A	noncoding	Benign
4	169588450	C	A	C169588450A	NEK1	NM_001199397.3(NEK1):c.551+199G>T	noncoding	Benign
4	169601874	T	A	T169601874A	NEK1	NM_001199397.3(NEK1):c.214+134A>T	noncoding	Benign
4	169713239	C	T	C169713239T	CLCN3	NM_001829.4(CLCN3):c.2310C>T:p.Ile770=	coding	Benign
4	173527393	G	C	G173527393C	HAND2	NM_021973.3(HAND2):c.556-18C>G	noncoding	Benign/Likely_benign
4	173528999	C	T	C173528999T	HAND2	NM_021973.3(HAND2):c.291G>A:p.Pro97=	coding	Benign
4	173529137	G	C	G173529137C	HAND2	NM_021973.3(HAND2):c.153C>G:p.Pro51=	coding	Benign
4	173529266	G	A	G173529266A	HAND2	NM_021973.3(HAND2):c.24C>T:p.Pro8=	coding	Benign
4	173530415	G	A	G173530415A	HAND2	NR_136192.1(HAND2-AS1):n.45G>A	noncoding	Benign
4	174492110	A	G	A174492110G	HPGD	NM_000860.6(HPGD):c.663-16T>C	noncoding	Benign
4	174493051	C	T	C174493051T	HPGD	NM_000860.6(HPGD):c.662+100G>A	noncoding	Benign
4	174493083	T	C	T174493083C	HPGD	NM_000860.6(HPGD):c.662+68A>G	noncoding	Benign
4	174493095	A	G	A174493095G	HPGD	NM_000860.6(HPGD):c.662+56T>C	noncoding	Benign
4	174493127	G	C	G174493127C	HPGD	NM_000860.6(HPGD):c.662+24C>G	noncoding	Benign
4	174493505	A	G	A174493505G	HPGD	NM_000860.6(HPGD):c.499-191T>C	noncoding	Benign
4	174493527	T	A	T174493527A	HPGD	NM_000860.6(HPGD):c.499-213A>T	noncoding	Benign
4	174495547	C	T	C174495547T	HPGD	NM_000860.6(HPGD):c.498+1G>A	noncoding	Pathogenic
4	174495644	C	T	C174495644T	HPGD	NM_000860.6(HPGD):c.422-20G>A	noncoding	Benign
4	174495815	G	A	G174495815A	HPGD	NM_000860.6(HPGD):c.422-191C>T	noncoding	Benign
4	174508657	G	A	G174508657A	HPGD	NM_000860.6(HPGD):c.421+39C>T	noncoding	Benign
4	174508748	A	G	A174508748G	HPGD	NM_000860.6(HPGD):c.369T>C:p.Ser123=	coding	Benign
4	174508793	C	G	C174508793G	HPGD	NM_000860.6(HPGD):c.325-1G>C	coding	Pathogenic
4	174509039	T	A	T174509039A	HPGD	NM_000860.6(HPGD):c.325-247A>T	noncoding	Benign
4	174517905	T	C	T174517905C	HPGD	NM_000860.6(HPGD):c.324+66A>G	noncoding	Benign
4	174521671	T	C	T174521671C	HPGD	NM_000860.6(HPGD):c.217+273A>G	noncoding	Benign
4	174522083	G	A	G174522083A	HPGD	NM_000860.6(HPGD):c.94-16C>T	noncoding	Benign
4	174522110	G	T	G174522110T	HPGD	NM_000860.6(HPGD):c.94-43C>A	noncoding	Benign
4	174522171	A	G	A174522171G	HPGD	NM_000860.6(HPGD):c.94-104T>C	noncoding	Benign
4	174523130	G	A	G174523130A	HPGD	Single_allele	noncoding	Benign
4	174523214	C	T	C174523214T	HPGD	Single_allele	noncoding	Benign
4	174523231	T	C	T174523231C	HPGD	Single_allele	noncoding	Benign
4	176686910	T	A	T176686910A	VEGFC	NM_005429.5(VEGFC):c.1145+277A>T	noncoding	Benign
4	176687209	T	G	T176687209G	VEGFC	NM_005429.5(VEGFC):c.1123A>C:p.Lys375Gln	coding	Benign
4	176687358	G	A	G176687358A	VEGFC	NM_005429.5(VEGFC):c.974C>T:p.Pro325Leu	coding	Benign
4	176687621	T	C	T176687621C	VEGFC	NM_005429.5(VEGFC):c.812-101A>G	noncoding	Benign
4	176687721	A	C	A176687721C	VEGFC	NM_005429.5(VEGFC):c.811+100T>G	noncoding	Benign
4	176687827	C	T	C176687827T	VEGFC	NM_005429.5(VEGFC):c.805G>A:p.Gly269Arg	coding	Benign
4	176688049	G	A	G176688049A	VEGFC	NM_005429.5(VEGFC):c.705-122C>T	noncoding	Benign
4	176688105	C	T	C176688105T	VEGFC	NM_005429.5(VEGFC):c.705-178G>A	noncoding	Benign
4	176688110	C	T	C176688110T	VEGFC	NM_005429.5(VEGFC):c.705-183G>A	noncoding	Benign
4	176711574	C	T	C176711574T	VEGFC	NM_005429.5(VEGFC):c.629G>A:p.Arg210Gln	coding	Benign
4	176711631	G	C	G176711631C	VEGFC	NM_005429.5(VEGFC):c.572C>G:p.Pro191Arg	coding	Benign
4	176711632	G	C	G176711632C	VEGFC	NM_005429.5(VEGFC):c.571C>G:p.Pro191Ala	coding	Benign
4	176711665	C	A	C176711665A	VEGFC	NM_005429.5(VEGFC):c.553-15G>T	noncoding	Benign
4	176727510	C	T	C176727510T	VEGFC	NM_005429.5(VEGFC):c.552+268G>A	noncoding	Benign
4	176727966	T	C	T176727966C	VEGFC	NM_005429.5(VEGFC):c.364A>G:p.Ile122Val	coding	Benign
4	176729712	C	T	C176729712T	VEGFC	NM_005429.5(VEGFC):c.182G>A:p.Arg61Gln	coding	Benign
4	176729722	C	T	C176729722T	VEGFC	NM_005429.5(VEGFC):c.172G>A:p.Glu58Lys	coding	Benign
4	176792172	T	A	T176792172A	VEGFC	NM_005429.5(VEGFC):c.140A>T:p.Glu47Val	coding	Benign
4	177434180	G	C	G177434180C	AGA	NM_000027.4(AGA):c.806+202C>G	noncoding	Benign
4	177436212	C	T	C177436212T	AGA	NM_000027.4(AGA):c.698+64G>A	noncoding	Benign
4	177437385	C	A	C177437385A	AGA	NM_000027.4(AGA):c.622+20G>T	noncoding	Benign
4	177437432	C	A	C177437432A	AGA	NM_000027.4(AGA):c.595G>T:p.Glu199Ter	coding	Pathogenic
4	177438525	T	C	T177438525C	AGA	NM_000027.4(AGA):c.507+220A>G	noncoding	Benign
4	177438565	A	G	A177438565G	AGA	NM_000027.4(AGA):c.507+180T>C	noncoding	Benign
4	177438749	C	T	C177438749T	AGA	NM_000027.4(AGA):c.503G>A:p.Trp168Ter	coding	Pathogenic/Likely_pathogenic
4	177438770	C	T	C177438770T	AGA	NM_000027.4(AGA):c.482G>A:p.Arg161Gln	coding	Benign/Likely_benign
4	177438798	G	A	G177438798A	AGA	NM_000027.4(AGA):c.454C>T:p.Gln152Ter	coding	Pathogenic
4	177438991	C	T	C177438991T	AGA	NM_000027.4(AGA):c.395-134G>A	noncoding	Benign
4	177439396	C	T	C177439396T	AGA	NM_000027.4(AGA):c.394+180G>A	noncoding	Benign
4	177439624	G	A	G177439624A	AGA	NM_000027.4(AGA):c.346C>T:p.Arg116Trp	coding	Pathogenic/Likely_pathogenic
4	177439668	G	A	G177439668A	AGA	NM_000027.4(AGA):c.302C>T:p.Ala101Val	coding	Pathogenic/Likely_pathogenic
4	177439897	C	A	C177439897A	AGA	NM_000027.4(AGA):c.282-209G>T	noncoding	Benign
4	177440008	T	C	T177440008C	AGA	NM_000027.4(AGA):c.281+265A>G	noncoding	Benign
4	177440352	G	A	G177440352A	AGA	NM_000027.4(AGA):c.202C>T:p.Gln68Ter	coding	Pathogenic
4	177440428	T	C	T177440428C	AGA	NM_000027.4(AGA):c.128-2A>G	noncoding	Pathogenic
4	177440467	T	A	T177440467A	AGA	NM_000027.4(AGA):c.128-41A>T	noncoding	Benign
4	177442375	T	C	T177442375C	AGA	NM_000027.4(AGA):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
4	182323716	C	T	C182323716T	TENM3	NM_001080477.4(TENM3):c.-75-230C>T	noncoding	Benign
4	182323774	G	A	G182323774A	TENM3	NM_001080477.4(TENM3):c.-75-172G>A	noncoding	Benign
4	182346337	T	A	T182346337A	TENM3	NM_001080477.4(TENM3):c.233-314T>A	noncoding	Benign
4	182600645	A	G	A182600645G	TENM3	NM_001080477.4(TENM3):c.512-279A>G	noncoding	Benign
4	182601296	A	G	A182601296G	TENM3	NM_001080477.4(TENM3):c.749+135A>G	noncoding	Benign
4	182601316	T	C	T182601316C	TENM3	NM_001080477.4(TENM3):c.749+155T>C	noncoding	Benign
4	182601373	A	G	A182601373G	TENM3	NM_001080477.4(TENM3):c.749+212A>G	noncoding	Benign
4	182653641	A	G	A182653641G	TENM3	NM_001080477.4(TENM3):c.989-130A>G	noncoding	Benign
4	182653685	A	G	A182653685G	TENM3	NM_001080477.4(TENM3):c.989-86A>G	noncoding	Benign
4	182654203	C	T	C182654203T	TENM3	NM_001080477.4(TENM3):c.1111+310C>T	noncoding	Benign
4	182672964	A	T	A182672964T	TENM3	NM_001080477.4(TENM3):c.1112-41A>T	noncoding	Benign
4	182679981	A	C	A182679981C	TENM3	NM_001080477.4(TENM3):c.1537+105A>C	noncoding	Benign
4	182714144	G	A	G182714144A	TENM3	NM_001080477.4(TENM3):c.2279G>A:p.Trp760Ter	coding	Pathogenic
4	182729325	A	G	A182729325G	TENM3	NM_001080477.4(TENM3):c.2585+144A>G	noncoding	Benign
4	182729363	C	T	C182729363T	TENM3	NM_001080477.4(TENM3):c.2585+182C>T	noncoding	Benign
4	182730041	G	A	G182730041A	TENM3	NM_001080477.4(TENM3):c.2586-159G>A	noncoding	Benign
4	182730443	A	C	A182730443C	TENM3	NM_001080477.4(TENM3):c.2705+124A>C	noncoding	Benign
4	182730612	G	A	G182730612A	TENM3	NM_001080477.4(TENM3):c.2706-266G>A	noncoding	Benign
4	182736529	G	A	G182736529A	TENM3	NM_001080477.4(TENM3):c.2968-279G>A	noncoding	Benign
4	182736590	A	G	A182736590G	TENM3	NM_001080477.4(TENM3):c.2968-218A>G	noncoding	Benign
4	182738209	T	C	T182738209C	TENM3	NM_001080477.4(TENM3):c.3236-192T>C	noncoding	Benign
4	182738569	G	C	G182738569C	TENM3	NM_001080477.4(TENM3):c.3379+25G>C	noncoding	Benign
4	182738589	A	T	A182738589T	TENM3	NM_001080477.4(TENM3):c.3379+45A>T	noncoding	Benign
4	182743436	T	G	T182743436G	TENM3	NM_001080477.4(TENM3):c.3629+17T>G	noncoding	Benign
4	182752072	T	A	T182752072A	TENM3	NM_001080477.4(TENM3):c.3862+40T>A	noncoding	Benign
4	182752074	A	T	A182752074T	TENM3	NM_001080477.4(TENM3):c.3862+42A>T	noncoding	Benign
4	182752094	T	A	T182752094A	TENM3	NM_001080477.4(TENM3):c.3862+62T>A	noncoding	Benign
4	182753424	G	C	G182753424C	TENM3	NM_001080477.4(TENM3):c.3863-26G>C	noncoding	Benign
4	182773348	G	A	G182773348A	TENM3	NM_001080477.4(TENM3):c.4893-124G>A	noncoding	Benign
4	182773799	T	C	T182773799C	TENM3	NM_001080477.4(TENM3):c.5068+152T>C	noncoding	Benign
4	182774973	C	T	C182774973T	TENM3	NM_001080477.4(TENM3):c.5124C>T:p.Tyr1708=	coding	Benign
4	182789043	G	C	G182789043C	TENM3	NM_001080477.4(TENM3):c.5305-50G>C	noncoding	Benign
4	182789542	G	A	G182789542A	TENM3	NM_001080477.4(TENM3):c.5601+153G>A	noncoding	Benign
4	182792038	T	C	T182792038C	TENM3	NM_001080477.4(TENM3):c.5602-236T>C	noncoding	Benign
4	182792210	A	C	A182792210C	TENM3	NM_001080477.4(TENM3):c.5602-64A>C	noncoding	Benign
4	182793953	G	A	G182793953A	TENM3	NM_001080477.4(TENM3):c.7213+68G>A	noncoding	Benign
4	182794072	T	G	T182794072G	TENM3	NM_001080477.4(TENM3):c.7213+187T>G	noncoding	Benign
4	182794094	A	G	A182794094G	TENM3	NM_001080477.4(TENM3):c.7213+209A>G	noncoding	Benign
4	182797049	C	A	C182797049A	TENM3	NM_001080477.4(TENM3):c.7344+282C>A	noncoding	Benign
4	182799283	G	A	G182799283A	TENM3	NM_001080477.4(TENM3):c.7345-313G>A	noncoding	Benign
4	182799941	T	C	T182799941C	TENM3	NM_001080477.4(TENM3):c.7690T>C:p.Leu2564=	coding	Benign
4	182800409	A	G	A182800409G	TENM3	NM_001080477.4(TENM3):c.*58A>G	noncoding	Benign
4	183664088	G	A	G183664088A	TRAPPC11	NM_021942.6(TRAPPC11):c.204+17G>A	noncoding	Benign/Likely_benign
4	183664116	A	G	A183664116G	TRAPPC11	NM_021942.6(TRAPPC11):c.204+45A>G	noncoding	Benign
4	183666043	T	C	T183666043C	TRAPPC11	NM_021942.6(TRAPPC11):c.205-214T>C	noncoding	Benign
4	183666447	G	A	G183666447A	TRAPPC11	NM_021942.6(TRAPPC11):c.374+21G>A	noncoding	Benign
4	183666548	G	A	G183666548A	TRAPPC11	NM_021942.6(TRAPPC11):c.374+122G>A	noncoding	Benign
4	183666810	G	A	G183666810A	TRAPPC11	NM_021942.6(TRAPPC11):c.375-250G>A	noncoding	Benign
4	183666968	C	T	C183666968T	TRAPPC11	NM_021942.6(TRAPPC11):c.375-92C>T	noncoding	Benign
4	183667152	A	T	A183667152T	TRAPPC11	NM_021942.6(TRAPPC11):c.445+22A>T	noncoding	Benign
4	183667156	A	C	A183667156C	TRAPPC11	NM_021942.6(TRAPPC11):c.445+26A>C	noncoding	Benign
4	183667255	T	C	T183667255C	TRAPPC11	NM_021942.6(TRAPPC11):c.445+125T>C	noncoding	Benign
4	183667366	G	A	G183667366A	TRAPPC11	NM_021942.6(TRAPPC11):c.445+236G>A	noncoding	Benign
4	183667419	T	G	T183667419G	TRAPPC11	NM_021942.6(TRAPPC11):c.445+289T>G	noncoding	Benign
4	183667714	G	A	G183667714A	TRAPPC11	NM_021942.6(TRAPPC11):c.446-289G>A	noncoding	Benign
4	183667824	T	C	T183667824C	TRAPPC11	NM_021942.6(TRAPPC11):c.446-179T>C	noncoding	Benign
4	183674702	G	A	G183674702A	TRAPPC11	NM_021942.6(TRAPPC11):c.561-11G>A	noncoding	Benign
4	183674830	A	G	A183674830G	TRAPPC11	NM_021942.6(TRAPPC11):c.660+18A>G	noncoding	Benign/Likely_benign
4	183674985	A	C	A183674985C	TRAPPC11	NM_021942.6(TRAPPC11):c.660+173A>C	noncoding	Benign
4	183675049	G	T	G183675049T	TRAPPC11	NM_021942.6(TRAPPC11):c.661-115G>T	noncoding	Benign
4	183675254	A	G	A183675254G	TRAPPC11	NM_021942.6(TRAPPC11):c.734+17A>G	noncoding	Benign
4	183675293	G	A	G183675293A	TRAPPC11	NM_021942.6(TRAPPC11):c.734+56G>A	noncoding	Benign
4	183677201	G	A	G183677201A	TRAPPC11	NM_021942.6(TRAPPC11):c.735-257G>A	noncoding	Benign
4	183677249	C	T	C183677249T	TRAPPC11	NM_021942.6(TRAPPC11):c.735-209C>T	noncoding	Benign
4	183679085	T	C	T183679085C	TRAPPC11	NM_021942.6(TRAPPC11):c.832-268T>C	noncoding	Benign
4	183679331	G	A	G183679331A	TRAPPC11	NM_021942.6(TRAPPC11):c.832-22G>A	noncoding	Benign
4	183679540	G	A	G183679540A	TRAPPC11	NM_021942.6(TRAPPC11):c.965+54G>A	noncoding	Benign
4	183679578	G	A	G183679578A	TRAPPC11	NM_021942.6(TRAPPC11):c.965+92G>A	noncoding	Benign
4	183679956	G	T	G183679956T	TRAPPC11	NM_021942.6(TRAPPC11):c.966-164G>T	noncoding	Benign
4	183679958	G	A	G183679958A	TRAPPC11	NM_021942.6(TRAPPC11):c.966-162G>A	noncoding	Benign
4	183680042	T	G	T183680042G	TRAPPC11	NM_021942.6(TRAPPC11):c.966-78T>G	noncoding	Benign
4	183680205	C	T	C183680205T	TRAPPC11	NM_021942.6(TRAPPC11):c.1051C>T:p.Gln351Ter	coding	Pathogenic
4	183683693	G	T	G183683693T	TRAPPC11	NM_021942.6(TRAPPC11):c.1208-282G>T	noncoding	Benign
4	183683913	G	A	G183683913A	TRAPPC11	NM_021942.6(TRAPPC11):c.1208-62G>A	noncoding	Benign
4	183684240	G	A	G183684240A	TRAPPC11	NM_021942.6(TRAPPC11):c.1366+17G>A	noncoding	Benign/Likely_benign
4	183684319	G	T	G183684319T	TRAPPC11	NM_021942.6(TRAPPC11):c.1381G>T:p.Glu461Ter	coding	Pathogenic
4	183684740	G	A	G183684740A	TRAPPC11	NM_021942.6(TRAPPC11):c.1466G>A:p.Trp489Ter	coding	Pathogenic
4	183685083	G	T	G183685083T	TRAPPC11	NM_021942.6(TRAPPC11):c.1568-1G>T	noncoding	Pathogenic
4	183685500	G	A	G183685500A	TRAPPC11	NM_021942.6(TRAPPC11):c.1762+97G>A	noncoding	Benign
4	183685726	A	T	A183685726T	TRAPPC11	NM_021942.6(TRAPPC11):c.1762+323A>T	noncoding	Benign
4	183686817	T	C	T183686817C	TRAPPC11	NM_021942.6(TRAPPC11):c.1893+69T>C	noncoding	Benign
4	183686891	A	G	A183686891G	TRAPPC11	NM_021942.6(TRAPPC11):c.1893+143A>G	noncoding	Benign
4	183692854	A	G	A183692854G	TRAPPC11	NM_021942.6(TRAPPC11):c.2050-106A>G	noncoding	Benign
4	183692883	G	A	G183692883A	TRAPPC11	NM_021942.6(TRAPPC11):c.2050-77G>A	noncoding	Benign
4	183692942	C	T	C183692942T	TRAPPC11	NM_021942.6(TRAPPC11):c.2050-18C>T	noncoding	Benign
4	183693394	G	C	G183693394C	TRAPPC11	NM_021942.6(TRAPPC11):c.2238-195G>C	noncoding	Benign
4	183693450	C	T	C183693450T	TRAPPC11	NM_021942.6(TRAPPC11):c.2238-139C>T	noncoding	Benign
4	183693919	C	T	C183693919T	TRAPPC11	NM_021942.6(TRAPPC11):c.2389C>T:p.Gln797Ter	coding	Pathogenic
4	183694279	A	C	A183694279C	TRAPPC11	NM_021942.6(TRAPPC11):c.2508+241A>C	noncoding	Benign
4	183694532	A	G	A183694532G	TRAPPC11	NM_021942.6(TRAPPC11):c.2509-72A>G	noncoding	Benign
4	183697317	G	A	G183697317A	TRAPPC11	NM_021942.6(TRAPPC11):c.2629-186G>A	noncoding	Benign
4	183697431	G	A	G183697431A	TRAPPC11	NM_021942.6(TRAPPC11):c.2629-72G>A	noncoding	Benign
4	183697603	G	A	G183697603A	TRAPPC11	NM_021942.6(TRAPPC11):c.2694+35G>A	noncoding	Benign
4	183697864	C	G	C183697864G	TRAPPC11	NM_021942.6(TRAPPC11):c.2851+29C>G	noncoding	Benign
4	183697881	G	A	G183697881A	TRAPPC11	NM_021942.6(TRAPPC11):c.2851+46G>A	noncoding	Benign
4	183698070	G	A	G183698070A	TRAPPC11	NM_021942.6(TRAPPC11):c.2851+235G>A	noncoding	Benign
4	183698107	T	C	T183698107C	TRAPPC11	NM_021942.6(TRAPPC11):c.2851+272T>C	noncoding	Benign
4	183706657	A	G	A183706657G	TRAPPC11	NM_021942.6(TRAPPC11):c.3056-150A>G	noncoding	Benign
4	183706843	C	G	C183706843G	TRAPPC11	NM_021942.6(TRAPPC11):c.3092C>G:p.Pro1031Arg	coding	Benign/Likely_benign
4	183708641	G	A	G183708641A	TRAPPC11	NM_021942.6(TRAPPC11):c.3357+67G>A	noncoding	Benign
4	183708741	A	G	A183708741G	TRAPPC11	NM_021942.6(TRAPPC11):c.3357+167A>G	noncoding	Benign
4	183712405	A	G	A183712405G	TRAPPC11	NM_021942.6(TRAPPC11):c.3358-195A>G	noncoding	Benign
4	183712527	T	C	T183712527C	TRAPPC11	NM_021942.6(TRAPPC11):c.3358-73T>C	noncoding	Benign
4	184628935	A	G	A184628935G	CASP3	NM_004346.4(CASP3):c.*337T>C	noncoding	Benign
4	185143080	T	A	T185143080A	SLC25A4	Single_allele	noncoding	Benign
4	185143107	C	G	C185143107G	SLC25A4	Single_allele	noncoding	Benign
4	185143813	G	A	G185143813A	SLC25A4	NM_001151.4(SLC25A4):c.111+330G>A	noncoding	Benign
4	185408362	C	G	C185408362G	UFSP2	NM_018359.5(UFSP2):c.905G>C:p.Cys302Ser	coding	Pathogenic
4	185418430	A	G	A185418430G	UFSP2	NM_018359.5(UFSP2):c.333+11T>C	noncoding	Benign
4	185425901	G	A	G185425901A	UFSP2	NM_018359.5(UFSP2):c.-33C>T	noncoding	Benign
4	185502275	G	A	G185502275A	PDLIM3	NM_014476.6(PDLIM3):c.*19C>T	noncoding	Benign
4	185504147	A	G	A185504147G	PDLIM3	NM_014476.6(PDLIM3):c.905+328T>C	noncoding	Benign
4	185504706	G	A	G185504706A	PDLIM3	NM_014476.6(PDLIM3):c.794-120C>T	noncoding	Benign
4	185508544	G	T	G185508544T	PDLIM3	NM_014476.6(PDLIM3):c.417C>A:p.Ser139=	coding	Benign/Likely_benign
4	185508743	C	T	C185508743T	PDLIM3	NM_014476.6(PDLIM3):c.399-181G>A	noncoding	Benign
4	185514335	G	A	G185514335A	PDLIM3	NM_014476.6(PDLIM3):c.333C>T:p.Asp111=	coding	Benign
4	185514353	G	A	G185514353A	PDLIM3	NM_014476.6(PDLIM3):c.331-16C>T	noncoding	Benign/Likely_benign
4	185523550	C	T	C185523550T	PDLIM3	NM_014476.6(PDLIM3):c.246-104G>A	noncoding	Benign
4	185524710	G	A	G185524710A	PDLIM3	NM_014476.6(PDLIM3):c.245+310C>T	noncoding	Benign
4	185524864	T	G	T185524864G	PDLIM3	NM_014476.6(PDLIM3):c.245+156A>C	noncoding	Benign
4	185525209	C	A	C185525209A	PDLIM3	NM_014476.6(PDLIM3):c.94-38G>T	noncoding	Benign
4	186076613	C	A	C186076613A	TLR3	NM_003265.3(TLR3):c.-7C>A	noncoding	Benign
4	186083910	C	T	C186083910T	TLR3	NM_003265.3(TLR3):c.2224C>T:p.Leu742Phe	coding	Benign
4	186191303	T	C	T186191303C	CYP4V2	NR_046264.1(FLJ38576):n.188A>G	noncoding	Benign
4	186191475	G	C	G186191475C	CYP4V2	NR_046264.1(FLJ38576):n.16C>G	noncoding	Benign
4	186192020	T	G	T186192020G	CYP4V2	NM_207352.4(CYP4V2):c.197T>G:p.Met66Arg	coding	Pathogenic
4	186192154	C	A	C186192154A	CYP4V2	NM_207352.4(CYP4V2):c.214+117C>A	noncoding	Benign
4	186194257	A	G	A186194257G	CYP4V2	NM_207352.4(CYP4V2):c.215-243A>G	noncoding	Benign
4	186194262	C	G	C186194262G	CYP4V2	NM_207352.4(CYP4V2):c.215-238C>G	noncoding	Benign
4	186194267	A	G	A186194267G	CYP4V2	NM_207352.4(CYP4V2):c.215-233A>G	noncoding	Benign
4	186194478	C	A	C186194478A	CYP4V2	NM_207352.4(CYP4V2):c.215-22C>A	noncoding	Benign
4	186194687	C	T	C186194687T	CYP4V2	NM_207352.4(CYP4V2):c.327+75C>T	noncoding	Benign
4	186194791	G	A	G186194791A	CYP4V2	NM_207352.4(CYP4V2):c.327+179G>A	noncoding	Benign
4	186194842	T	G	T186194842G	CYP4V2	NM_207352.4(CYP4V2):c.327+230T>G	noncoding	Benign
4	186195916	T	C	T186195916C	CYP4V2	NM_207352.4(CYP4V2):c.328-87T>C	noncoding	Benign
4	186196939	G	A	G186196939A	CYP4V2	NM_207352.4(CYP4V2):c.414-1G>A	noncoding	Pathogenic/Likely_pathogenic
4	186197076	G	T	G186197076T	CYP4V2	NM_207352.4(CYP4V2):c.550G>T:p.Glu184Ter	coding	Pathogenic
4	186197204	C	T	C186197204T	CYP4V2	NM_207352.4(CYP4V2):c.604+74C>T	noncoding	Benign
4	186197205	G	A	G186197205A	CYP4V2	NM_207352.4(CYP4V2):c.604+75G>A	noncoding	Benign
4	186197508	G	T	G186197508T	CYP4V2	NM_207352.4(CYP4V2):c.605-25G>T	noncoding	Benign
4	186199084	G	A	G186199084A	CYP4V2	NM_207352.4(CYP4V2):c.801+1G>A	coding	Pathogenic
4	186199207	C	T	C186199207T	CYP4V2	NM_207352.4(CYP4V2):c.801+124C>T	noncoding	Benign
4	186199303	C	G	C186199303G	CYP4V2	NM_207352.4(CYP4V2):c.801+220C>G	noncoding	Benign
4	186201050	C	T	C186201050T	CYP4V2	NM_207352.4(CYP4V2):c.802-107C>T	noncoding	Benign
4	186205199	G	C	G186205199C	CYP4V2	NM_207352.4(CYP4V2):c.988-1G>C	noncoding	Pathogenic
4	186208841	A	G	A186208841G	CYP4V2	NM_207352.4(CYP4V2):c.1091-24A>G	noncoding	Benign
4	186208942	C	T	C186208942T	CYP4V2	NM_207352.4(CYP4V2):c.1168C>T:p.Arg390Cys	coding	Pathogenic
4	186208973	G	A	G186208973A	CYP4V2	NM_207352.4(CYP4V2):c.1199G>A:p.Arg400His	coding	Pathogenic/Likely_pathogenic
4	186208993	G	T	G186208993T	CYP4V2	NM_207352.4(CYP4V2):c.1219G>T:p.Glu407Ter	coding	Pathogenic
4	186209044	A	G	A186209044G	CYP4V2	NM_207352.4(CYP4V2):c.1225+45A>G	noncoding	Benign
4	186209185	C	T	C186209185T	CYP4V2	NM_207352.4(CYP4V2):c.1318C>T:p.Gln440Ter	coding	Pathogenic
4	186209196	G	A	G186209196A	CYP4V2	NM_207352.4(CYP4V2):c.1329G>A:p.Arg443=	coding	Benign
4	186209290	T	A	T186209290A	CYP4V2	NM_207352.4(CYP4V2):c.1405+18T>A	noncoding	Benign
4	186210350	G	A	G186210350A	CYP4V2	NM_207352.4(CYP4V2):c.1406-119G>A	noncoding	Benign
4	186212279	G	A	G186212279A	CYP4V2	NM_207352.4(CYP4V2):c.*1638G>A	noncoding	Benign/Likely_benign
4	186228079	T	C	T186228079C	KLKB1	NM_000892.5(KLKB1):c.-1-116T>C	noncoding	Benign
4	186228386	G	A	G186228386A	KLKB1	NM_000892.5(KLKB1):c.58+133G>A	noncoding	Benign
4	186232357	T	C	T186232357C	KLKB1	NM_000892.5(KLKB1):c.221+68T>C	noncoding	Benign
4	186233719	T	C	T186233719C	KLKB1	NM_000892.5(KLKB1):c.222-233T>C	noncoding	Benign
4	186234334	G	A	G186234334A	KLKB1	NM_000892.5(KLKB1):c.328+276G>A	noncoding	Benign
4	186236880	G	A	G186236880A	KLKB1	NM_000892.5(KLKB1):c.428G>A:p.Ser143Asn	coding	Benign
4	186238128	G	C	G186238128C	KLKB1	NM_000892.5(KLKB1):c.489-128G>C	noncoding	Benign
4	186250201	A	G	A186250201G	KLKB1	NM_000892.5(KLKB1):c.599-42A>G	noncoding	Benign
4	186251126	G	A	G186251126A	KLKB1	NM_000892.5(KLKB1):c.759-93G>A	noncoding	Benign
4	186251858	T	G	T186251858G	KLKB1	NM_000892.5(KLKB1):c.1141T>G:p.Ser381Ala	coding	Benign
4	186252334	A	G	A186252334G	KLKB1	NM_000892.5(KLKB1):c.1313+149A>G	noncoding	Benign
4	186252392	G	A	G186252392A	KLKB1	NM_000892.5(KLKB1):c.1313+207G>A	noncoding	Benign
4	186252417	G	C	G186252417C	KLKB1	NM_000892.5(KLKB1):c.1313+232G>C	noncoding	Benign
4	186254303	C	T	C186254303T	KLKB1	NM_000892.5(KLKB1):c.1314-285C>T	noncoding	Benign
4	186254568	T	A	T186254568A	KLKB1	NM_000892.5(KLKB1):c.1314-20T>A	noncoding	Benign
4	186255705	G	A	G186255705A	KLKB1	NM_000892.5(KLKB1):c.1490-287G>A	noncoding	Benign
4	186256999	C	G	C186256999G	KLKB1	NM_000892.5(KLKB1):c.1586-227C>G	noncoding	Benign
4	186257032	C	T	C186257032T	KLKB1	NM_000892.5(KLKB1):c.1586-194C>T	noncoding	Benign
4	186257146	T	C	T186257146C	KLKB1	NM_000892.5(KLKB1):c.1586-80T>C	noncoding	Benign
4	186257319	G	A	G186257319A	KLKB1	NM_000892.5(KLKB1):c.1679G>A:p.Arg560Gln	coding	Benign
4	186257445	C	T	C186257445T	KLKB1	NM_000892.5(KLKB1):c.1725+80C>T	noncoding	Benign
4	186257459	A	T	A186257459T	KLKB1	NM_000892.5(KLKB1):c.1725+94A>T	noncoding	Benign
4	186257634	A	G	A186257634G	KLKB1	NM_000892.5(KLKB1):c.1725+269A>G	noncoding	Benign
4	186257678	C	G	C186257678G	KLKB1	NM_000892.5(KLKB1):c.1725+313C>G	noncoding	Benign
4	186257981	T	C	T186257981C	KLKB1	NM_000892.5(KLKB1):c.1726-40T>C	noncoding	Benign
4	186258056	T	C	T186258056C	KLKB1	NM_000892.5(KLKB1):c.1761T>C:p.Asn587=	coding	Benign
4	186258332	A	G	A186258332G	KLKB1	NM_000892.5(KLKB1):c.*120A>G	noncoding	Benign
4	186266243	G	A	G186266243A	F11	NM_000128.4(F11):c.-54G>A	noncoding	Benign/Likely_benign
4	186266907	T	C	T186266907C	F11	NM_000128.4(F11):c.-1-229T>C	noncoding	Benign
4	186266940	T	G	T186266940G	F11	NM_000128.4(F11):c.-1-196T>G	noncoding	Benign
4	186266998	A	C	A186266998C	F11	NM_000128.4(F11):c.-1-138A>C	noncoding	Benign
4	186271327	T	C	T186271327C	F11	NM_000128.4(F11):c.56-282T>C	noncoding	Benign
4	186271524	T	C	T186271524C	F11	NM_000128.4(F11):c.56-85T>C	noncoding	Benign
4	186271719	T	C	T186271719C	F11	NM_000128.4(F11):c.166T>C:p.Cys56Arg	coding	Pathogenic/Likely_pathogenic
4	186273071	G	A	G186273071A	F11	NM_000128.4(F11):c.219G>A:p.Trp73Ter	coding	Pathogenic/Likely_pathogenic
4	186273178	G	A	G186273178A	F11	NM_000128.4(F11):c.325+1G>A	coding	Pathogenic
4	186273996	C	T	C186273996T	F11	NM_000128.4(F11):c.326-120C>T	noncoding	Benign
4	186274397	T	A	T186274397A	F11	NM_000128.4(F11):c.485+122T>A	noncoding	Benign
4	186274456	T	C	T186274456C	F11	NM_000128.4(F11):c.485+181T>C	noncoding	Benign
4	186275606	C	T	C186275606T	F11	NM_000128.4(F11):c.486-181C>T	noncoding	Benign
4	186275899	A	G	A186275899G	F11	NM_000128.4(F11):c.595+3A>G	noncoding	Pathogenic/Likely_pathogenic
4	186276317	C	T	C186276317T	F11	NM_000128.4(F11):c.682C>T:p.Arg228Ter	coding	Pathogenic/Likely_pathogenic
4	186276373	G	A	G186276373A	F11	NM_000128.4(F11):c.738G>A:p.Trp246Ter	coding	Pathogenic
4	186279689	C	G	C186279689G	F11	NM_000128.4(F11):c.756-323C>G	noncoding	Benign
4	186279847	A	G	A186279847G	F11	NM_000128.4(F11):c.756-165A>G	noncoding	Benign
4	186280300	G	A	G186280300A	F11	NM_000128.4(F11):c.943G>A:p.Glu315Lys	coding	Pathogenic/Likely_pathogenic
4	186280363	C	T	C186280363T	F11	NM_000128.4(F11):c.1006C>T:p.Gln336Ter	coding	Pathogenic
4	186280374	C	A	C186280374A	F11	NM_000128.4(F11):c.1017C>A:p.Cys339Ter	coding	Pathogenic
4	186280383	G	T	G186280383T	F11	NM_000128.4(F11):c.1026G>T:p.Gly342=	coding	Pathogenic
4	186283879	A	G	A186283879G	F11	NM_000128.4(F11):c.1136-213A>G	noncoding	Benign
4	186286200	C	T	C186286200T	F11	NM_000128.4(F11):c.1481-215C>T	coding	Benign
4	186286381	G	T	G186286381T	F11	NM_000128.4(F11):c.1481-34G>T	noncoding	Benign/Likely_benign
4	186286561	C	A	C186286561A	F11	NM_000128.4(F11):c.1576+51C>A	noncoding	Benign/Likely_benign
4	186287706	G	A	G186287706A	F11	NM_000128.4(F11):c.1599G>A:p.Gln533=	coding	Benign
4	186287715	G	C	G186287715C	F11	NM_000128.4(F11):c.1608G>C:p.Lys536Asn	coding	Pathogenic/Likely_pathogenic
4	186287720	C	T	C186287720T	F11	NM_000128.4(F11):c.1613C>T:p.Pro538Leu	coding	Pathogenic/Likely_pathogenic
4	186288405	A	G	A186288405G	F11	NM_000128.4(F11):c.1717-48A>G	noncoding	Benign/Likely_benign
4	186533547	T	C	T186533547C	MTNR1A	Single_allele	noncoding	Benign
4	186533797	T	C	T186533797C	MTNR1A	NM_005958.4(MTNR1A):c.945A>G:p.Thr315=	coding	Benign
4	186533818	T	C	T186533818C	MTNR1A	NM_005958.4(MTNR1A):c.924A>G:p.Arg308=	coding	Benign
4	186588338	C	T	C186588338T	FAT1	NM_005245.4(FAT1):c.*254G>A	noncoding	Benign
4	186588460	G	A	G186588460A	FAT1	NM_005245.4(FAT1):c.*132C>T	noncoding	Benign
4	186588871	G	A	G186588871A	FAT1	NM_005245.4(FAT1):c.13488C>T:p.Leu4496=	coding	Benign
4	186589126	G	A	G186589126A	FAT1	NM_005245.4(FAT1):c.13233C>T:p.Pro4411=	coding	Benign
4	186589165	T	C	T186589165C	FAT1	NM_005245.4(FAT1):c.13194A>G:p.Gln4398=	coding	Benign
4	186595371	G	A	G186595371A	FAT1	NM_005245.4(FAT1):c.13138+318C>T	noncoding	Benign
4	186595501	T	A	T186595501A	FAT1	NM_005245.4(FAT1):c.13138+188A>T	noncoding	Benign
4	186595726	A	G	A186595726G	FAT1	NM_005245.4(FAT1):c.13101T>C:p.Ser4367=	coding	Benign
4	186596056	C	T	C186596056T	FAT1	NM_005245.4(FAT1):c.13001-230G>A	noncoding	Benign
4	186596604	G	A	G186596604A	FAT1	NM_005245.4(FAT1):c.12936C>T:p.Pro4312=	coding	Benign
4	186596887	T	C	T186596887C	FAT1	NM_005245.4(FAT1):c.12653A>G:p.Asp4218Gly	coding	Benign/Likely_benign
4	186597111	C	T	C186597111T	FAT1	NM_005245.4(FAT1):c.12429G>A:p.Glu4143=	coding	Benign
4	186597717	G	A	G186597717A	FAT1	NM_005245.4(FAT1):c.12333C>T:p.Ala4111=	coding	Benign
4	186597822	C	T	C186597822T	FAT1	NM_005245.4(FAT1):c.12258-30G>A	noncoding	Benign
4	186597826	T	C	T186597826C	FAT1	NM_005245.4(FAT1):c.12258-34A>G	noncoding	Benign
4	186598052	C	G	C186598052G	FAT1	NM_005245.4(FAT1):c.12177G>C:p.Lys4059Asn	coding	Benign
4	186598134	G	T	G186598134T	FAT1	NM_005245.4(FAT1):c.12104-9C>A	noncoding	Benign
4	186599749	G	A	G186599749A	FAT1	NM_005245.4(FAT1):c.12103+149C>T	noncoding	Benign
4	186599883	C	A	C186599883A	FAT1	NM_005245.4(FAT1):c.12103+15G>T	noncoding	Benign
4	186600004	G	A	G186600004A	FAT1	NM_005245.4(FAT1):c.11997C>T:p.Ile3999=	coding	Benign
4	186600686	C	T	C186600686T	FAT1	NM_005245.4(FAT1):c.11641-326G>A	noncoding	Benign
4	186600711	G	A	G186600711A	FAT1	NM_005245.4(FAT1):c.11641-351C>T	noncoding	Benign
4	186601374	C	T	C186601374T	FAT1	NM_005245.4(FAT1):c.11535G>A:p.Thr3845=	coding	Benign
4	186601568	C	T	C186601568T	FAT1	NM_005245.4(FAT1):c.11483-142G>A	noncoding	Benign
4	186601635	T	C	T186601635C	FAT1	NM_005245.4(FAT1):c.11483-209A>G	noncoding	Benign
4	186602641	A	C	A186602641C	FAT1	NM_005245.4(FAT1):c.11482+262T>G	noncoding	Benign
4	186602807	T	C	T186602807C	FAT1	NM_005245.4(FAT1):c.11482+96A>G	noncoding	Benign
4	186603310	G	A	G186603310A	FAT1	NM_005245.4(FAT1):c.11216C>T:p.Ala3739Val	coding	Benign
4	186603371	C	T	C186603371T	FAT1	NM_005245.4(FAT1):c.11155G>A:p.Val3719Met	coding	Benign
4	186603866	A	C	A186603866C	FAT1	NM_005245.4(FAT1):c.10660T>G:p.Ser3554Ala	coding	Benign
4	186604209	C	G	C186604209G	FAT1	NM_005245.4(FAT1):c.10548+168G>C	noncoding	Benign
4	186604756	A	T	A186604756T	FAT1	NM_005245.4(FAT1):c.10351-182T>A	noncoding	Benign
4	186604768	G	A	G186604768A	FAT1	NM_005245.4(FAT1):c.10351-194C>T	noncoding	Benign
4	186604786	A	C	A186604786C	FAT1	NM_005245.4(FAT1):c.10351-212T>G	noncoding	Benign
4	186604787	G	T	G186604787T	FAT1	NM_005245.4(FAT1):c.10351-213C>A	noncoding	Benign
4	186604796	A	G	A186604796G	FAT1	NM_005245.4(FAT1):c.10351-222T>C	noncoding	Benign
4	186604848	C	A	C186604848A	FAT1	NM_005245.4(FAT1):c.10351-274G>T	noncoding	Benign
4	186605885	G	A	G186605885A	FAT1	NM_005245.4(FAT1):c.10350+185C>T	noncoding	Benign
4	186606089	T	C	T186606089C	FAT1	NM_005245.4(FAT1):c.10331A>G:p.Asn3444Ser	coding	Benign
4	186606318	A	G	A186606318G	FAT1	NM_005245.4(FAT1):c.10207-105T>C	noncoding	Benign
4	186609159	C	T	C186609159T	FAT1	NM_005245.4(FAT1):c.10206+24G>A	noncoding	Benign
4	186609868	A	G	A186609868G	FAT1	NM_005245.4(FAT1):c.10001T>C:p.Val3334Ala	coding	Benign
4	186612844	T	G	T186612844G	FAT1	NM_005245.4(FAT1):c.9463+265A>C	noncoding	Benign
4	186613209	G	A	G186613209A	FAT1	NM_005245.4(FAT1):c.9363C>T:p.Asn3121=	coding	Benign
4	186613221	A	G	A186613221G	FAT1	NM_005245.4(FAT1):c.9351T>C:p.Asp3117=	coding	Benign
4	186613388	T	A	T186613388A	FAT1	NM_005245.4(FAT1):c.9230-46A>T	noncoding	Benign
4	186613388	T	C	T186613388C	FAT1	NM_005245.4(FAT1):c.9230-46A>G	noncoding	Benign
4	186613535	G	T	G186613535T	FAT1	NM_005245.4(FAT1):c.9230-193C>A	noncoding	Benign
4	186613909	T	C	T186613909C	FAT1	NM_005245.4(FAT1):c.9229+282A>G	noncoding	Benign
4	186613967	T	C	T186613967C	FAT1	NM_005245.4(FAT1):c.9229+224A>G	noncoding	Benign
4	186614015	T	C	T186614015C	FAT1	NM_005245.4(FAT1):c.9229+176A>G	noncoding	Benign
4	186614024	C	T	C186614024T	FAT1	NM_005245.4(FAT1):c.9229+167G>A	noncoding	Benign
4	186614065	C	T	C186614065T	FAT1	NM_005245.4(FAT1):c.9229+126G>A	noncoding	Benign
4	186614434	T	C	T186614434C	FAT1	NM_005245.4(FAT1):c.9076-90A>G	noncoding	Benign
4	186614611	T	C	T186614611C	FAT1	NM_005245.4(FAT1):c.9076-267A>G	noncoding	Benign
4	186616877	C	A	C186616877A	FAT1	NM_005245.4(FAT1):c.9075+128G>T	noncoding	Benign
4	186616979	A	G	A186616979G	FAT1	NM_005245.4(FAT1):c.9075+26T>C	noncoding	Benign
4	186617089	C	T	C186617089T	FAT1	NM_005245.4(FAT1):c.8991G>A:p.Thr2997=	coding	Benign
4	186617117	T	A	T186617117A	FAT1	NM_005245.4(FAT1):c.8963A>T:p.Lys2988Ile	coding	Benign
4	186617176	G	A	G186617176A	FAT1	NM_005245.4(FAT1):c.8904C>T:p.Ala2968=	coding	Benign
4	186617311	T	C	T186617311C	FAT1	NM_005245.4(FAT1):c.8879-110A>G	noncoding	Benign
4	186617685	C	T	C186617685T	FAT1	NM_005245.4(FAT1):c.8878+23G>A	noncoding	Benign
4	186617734	T	C	T186617734C	FAT1	NM_005245.4(FAT1):c.8852A>G:p.Asn2951Ser	coding	Benign
4	186617788	T	A	T186617788A	FAT1	NM_005245.4(FAT1):c.8798A>T:p.Gln2933Leu	coding	Benign
4	186617788	T	G	T186617788G	FAT1	NM_005245.4(FAT1):c.8798A>C:p.Gln2933Pro	coding	Benign
4	186618063	G	A	G186618063A	FAT1	NM_005245.4(FAT1):c.8523C>T:p.Asn2841=	coding	Benign
4	186618121	A	G	A186618121G	FAT1	NM_005245.4(FAT1):c.8465T>C:p.Leu2822Pro	coding	Benign
4	186618169	C	T	C186618169T	FAT1	NM_005245.4(FAT1):c.8417G>A:p.Ser2806Asn	coding	Benign
4	186618434	T	C	T186618434C	FAT1	NM_005245.4(FAT1):c.8152A>G:p.Ile2718Val	coding	Benign
4	186619227	G	A	G186619227A	FAT1	NM_005245.4(FAT1):c.7359C>T:p.His2453=	coding	Benign
4	186619481	T	G	T186619481G	FAT1	NM_005245.4(FAT1):c.7105A>C:p.Thr2369Pro	coding	Benign
4	186619500	T	A	T186619500A	FAT1	NM_005245.4(FAT1):c.7086A>T:p.Ala2362=	coding	Benign
4	186619536	G	A	G186619536A	FAT1	NM_005245.4(FAT1):c.7050C>T:p.Tyr2350=	coding	Benign
4	186619764	G	C	G186619764C	FAT1	NM_005245.4(FAT1):c.6822C>G:p.Asp2274Glu	coding	Benign
4	186619842	C	T	C186619842T	FAT1	NM_005245.4(FAT1):c.6744G>A:p.Pro2248=	coding	Benign
4	186619977	G	A	G186619977A	FAT1	NM_005245.4(FAT1):c.6609C>T:p.His2203=	coding	Benign/Likely_benign
4	186620607	G	A	G186620607A	FAT1	NM_005245.4(FAT1):c.5979C>T:p.Thr1993=	coding	Benign
4	186620940	T	C	T186620940C	FAT1	NM_005245.4(FAT1):c.5646A>G:p.Pro1882=	coding	Benign
4	186621162	T	C	T186621162C	FAT1	NM_005245.4(FAT1):c.5424A>G:p.Val1808=	coding	Benign
4	186621582	T	C	T186621582C	FAT1	NM_005245.4(FAT1):c.5004A>G:p.Thr1668=	coding	Benign
4	186621601	T	C	T186621601C	FAT1	NM_005245.4(FAT1):c.4985A>G:p.Asn1662Ser	coding	Benign
4	186621786	A	G	A186621786G	FAT1	NM_005245.4(FAT1):c.4811-11T>C	noncoding	Benign
4	186621832	G	C	G186621832C	FAT1	NM_005245.4(FAT1):c.4811-57C>G	noncoding	Benign
4	186628241	C	T	C186628241T	FAT1	NM_005245.4(FAT1):c.4723G>A:p.Ala1575Thr	coding	Benign
4	186628274	C	T	C186628274T	FAT1	NM_005245.4(FAT1):c.4690G>A:p.Ala1564Thr	coding	Benign
4	186628428	G	A	G186628428A	FAT1	NM_005245.4(FAT1):c.4599+60C>T	noncoding	Benign
4	186628729	C	T	C186628729T	FAT1	NM_005245.4(FAT1):c.4358G>A:p.Arg1453His	coding	Benign
4	186635966	T	C	T186635966C	FAT1	NM_005245.4(FAT1):c.4183+59A>G	noncoding	Benign
4	186635994	A	T	A186635994T	FAT1	NM_005245.4(FAT1):c.4183+31T>A	noncoding	Benign
4	186636446	G	A	G186636446A	FAT1	NM_005245.4(FAT1):c.3972+139C>T	noncoding	Benign
4	186636469	G	A	G186636469A	FAT1	NM_005245.4(FAT1):c.3972+116C>T	noncoding	Benign
4	186636488	G	A	G186636488A	FAT1	NM_005245.4(FAT1):c.3972+97C>T	noncoding	Benign
4	186636645	C	T	C186636645T	FAT1	NM_005245.4(FAT1):c.3912G>A:p.Pro1304=	coding	Benign
4	186636739	T	C	T186636739C	FAT1	NM_005245.4(FAT1):c.3818A>G:p.His1273Arg	coding	Benign
4	186636787	C	T	C186636787T	FAT1	NM_005245.4(FAT1):c.3770G>A:p.Arg1257Gln	coding	Benign
4	186636808	T	C	T186636808C	FAT1	NM_005245.4(FAT1):c.3749A>G:p.Tyr1250Cys	coding	Benign
4	186663617	C	G	C186663617G	FAT1	NM_005245.4(FAT1):c.3266-4G>C	noncoding	Benign
4	186663653	G	A	G186663653A	FAT1	NM_005245.4(FAT1):c.3266-40C>T	noncoding	Benign
4	186663728	A	T	A186663728T	FAT1	NM_005245.4(FAT1):c.3266-115T>A	noncoding	Benign
4	186663848	T	C	T186663848C	FAT1	NM_005245.4(FAT1):c.3266-235A>G	noncoding	Benign
4	186706439	C	T	C186706439T	FAT1	NM_005245.4(FAT1):c.3265+124G>A	noncoding	Benign
4	186706638	T	C	T186706638C	FAT1	NM_005245.4(FAT1):c.3190A>G:p.Arg1064Gly	coding	Benign
4	186706873	G	A	G186706873A	FAT1	NM_005245.4(FAT1):c.2955C>T:p.Ile985=	coding	Benign/Likely_benign
4	186706900	C	G	C186706900G	FAT1	NM_005245.4(FAT1):c.2928G>C:p.Val976=	coding	Benign
4	186707030	C	T	C186707030T	FAT1	NM_005245.4(FAT1):c.2798G>A:p.Arg933His	coding	Benign
4	186707244	C	G	C186707244G	FAT1	NM_005245.4(FAT1):c.2584G>C:p.Val862Leu	coding	Benign
4	186707983	A	G	A186707983G	FAT1	NM_005245.4(FAT1):c.1845T>C:p.Phe615=	coding	Benign
4	186707986	G	C	G186707986C	FAT1	NM_005245.4(FAT1):c.1842C>G:p.Phe614Leu	coding	Benign
4	186708343	G	A	G186708343A	FAT1	NM_005245.4(FAT1):c.1485C>T:p.Asn495=	coding	Benign
4	186708384	C	T	C186708384T	FAT1	NM_005245.4(FAT1):c.1444G>A:p.Val482Ile	coding	Benign
4	186708616	A	C	A186708616C	FAT1	NM_005245.4(FAT1):c.1212T>G:p.Ser404Arg	coding	Benign
4	186708694	T	C	T186708694C	FAT1	NM_005245.4(FAT1):c.1134A>G:p.Glu378=	coding	Benign
4	186708742	G	A	G186708742A	FAT1	NM_005245.4(FAT1):c.1086C>T:p.Ala362=	coding	Benign
4	186709387	C	T	C186709387T	FAT1	NM_005245.4(FAT1):c.441G>A:p.Pro147=	coding	Benign
4	186709436	G	A	G186709436A	FAT1	NM_005245.4(FAT1):c.392C>T:p.Ala131Val	coding	Benign
4	186709443	C	G	C186709443G	FAT1	NM_005245.4(FAT1):c.385G>C:p.Val129Leu	coding	Benign
4	186709751	C	T	C186709751T	FAT1	NM_005245.4(FAT1):c.77G>A:p.Arg26Gln	coding	Benign
4	186709835	C	A	C186709835A	FAT1	NM_005245.4(FAT1):c.-8G>T	noncoding	Benign
4	186710069	C	T	C186710069T	FAT1	NM_005245.4(FAT1):c.-18-224G>A	noncoding	Benign
4	189961818	A	G	A189961818G	FRG1	NM_004477.3(FRG1):c.630-4A>G	noncoding	Benign/Likely_benign
5	218358	G	C	G218358C	SDHA	NM_004168.4(SDHA):c.3G>C:p.Met1Ile	coding	Pathogenic
5	218358	G	T	G218358T	SDHA	NM_004168.4(SDHA):c.3G>T:p.Met1Ile	coding	Pathogenic
5	218378	C	A	C218378A	SDHA	NM_004168.4(SDHA):c.23C>A:p.Ser8Ter	coding	Pathogenic
5	223483	G	A	G223483A	SDHA	NM_004168.4(SDHA):c.65G>A:p.Trp22Ter	coding	Pathogenic
5	223497	C	T	C223497T	SDHA	NM_004168.4(SDHA):c.79C>T:p.Gln27Ter	coding	Pathogenic
5	225560	G	T	G225560T	SDHA	NM_004168.4(SDHA):c.454G>T:p.Glu152Ter	coding	Pathogenic
5	225653	G	C	G225653C	SDHA	NM_004168.4(SDHA):c.456+91G>C	noncoding	Benign
5	225952	C	T	C225952T	SDHA	NM_004168.4(SDHA):c.526C>T:p.Gln176Ter	coding	Pathogenic
5	226023	G	A	G226023A	SDHA	NM_004168.4(SDHA):c.597G>A:p.Ser199=	coding	Benign/Likely_benign
5	226026	A	G	A226026G	SDHA	NM_004168.4(SDHA):c.600A>G:p.Leu200=	coding	Benign/Likely_benign
5	228196	T	G	T228196G	SDHA	NM_004168.4(SDHA):c.633T>G:p.Tyr211Ter	coding	Pathogenic
5	230930	C	T	C230930T	SDHA	NM_004168.4(SDHA):c.825C>T:p.Asp275=	coding	Benign/Likely_benign
5	230967	C	T	C230967T	SDHA	NM_004168.4(SDHA):c.862C>T:p.Gln288Ter	coding	Pathogenic
5	233499	C	G	C233499G	SDHA	NM_004168.4(SDHA):c.918C>G:p.Leu306=	coding	Benign/Likely_benign
5	235352	G	T	G235352T	SDHA	NM_004168.4(SDHA):c.1260+13G>T	noncoding	Benign/Likely_benign
5	236511	T	C	T236511C	SDHA	NM_004168.4(SDHA):c.1344T>C:p.Gly448=	coding	Benign/Likely_benign
5	236538	C	A	C236538A	SDHA	NM_004168.4(SDHA):c.1371C>A:p.Leu457=	coding	Benign/Likely_benign
5	236581	G	T	G236581T	SDHA	NM_004168.4(SDHA):c.1414G>T:p.Glu472Ter	coding	Pathogenic
5	236619	G	C	G236619C	SDHA	NM_004168.4(SDHA):c.1432+20G>C	noncoding	Benign/Likely_benign
5	240492	C	T	C240492T	SDHA	NM_004168.4(SDHA):c.1551+16C>T	noncoding	Benign/Likely_benign
5	250998	C	T	C250998T	SDHA	NM_004168.4(SDHA):c.1558C>T:p.Gln520Ter	coding	Pathogenic
5	251414	C	G	C251414G	SDHA	NM_004168.4(SDHA):c.1740C>G:p.Tyr580Ter	coding	Pathogenic
5	254327	C	T	C254327T	SDHA	NM_004168.4(SDHA):c.1795-66C>T	noncoding	Benign
5	474989	A	G	A474989G	SLC9A3	NM_004174.4(SLC9A3):c.2395T>C:p.Cys799Arg	coding	Benign
5	475011	A	T	A475011T	SLC9A3	NM_004174.4(SLC9A3):c.2373T>A:p.Ile791=	coding	Benign
5	475150	G	A	G475150A	SLC9A3	NM_004174.4(SLC9A3):c.2252-18C>T	coding	Benign
5	476238	C	T	C476238T	SLC9A3	NM_004174.4(SLC9A3):c.2031G>A:p.Ala677=	coding	Benign
5	476395	G	A	G476395A	SLC9A3	NM_004174.4(SLC9A3):c.1891-17C>T	coding	Benign
5	476415	C	G	C476415G	SLC9A3	NM_004174.4(SLC9A3):c.1891-37G>C	coding	Benign
5	476531	C	G	C476531G	SLC9A3	NM_004174.4(SLC9A3):c.1890+12G>C	coding	Benign
5	476617	G	A	G476617A	SLC9A3	NM_004174.4(SLC9A3):c.1816C>T:p.Arg606Trp	coding	Benign
5	476622	C	T	C476622T	SLC9A3	NM_004174.4(SLC9A3):c.1811G>A:p.Arg604Gln	coding	Benign
5	476623	G	A	G476623A	SLC9A3	NM_004174.4(SLC9A3):c.1810C>T:p.Arg604Ter	coding	Pathogenic
5	477394	G	A	G477394A	SLC9A3	NM_004174.4(SLC9A3):c.1698C>T:p.Asn566=	coding	Benign
5	479790	A	C	A479790C	SLC9A3	NM_004174.4(SLC9A3):c.1647+46T>G	coding	Benign
5	479845	G	A	G479845A	SLC9A3	NM_004174.4(SLC9A3):c.1638C>T:p.Tyr546=	coding	Benign
5	479968	G	A	G479968A	SLC9A3	NM_004174.4(SLC9A3):c.1518-3C>T	coding	Benign
5	481495	T	C	T481495C	SLC9A3	NM_004174.4(SLC9A3):c.1517+70A>G	noncoding	Benign
5	481615	C	T	C481615T	SLC9A3	NM_004174.4(SLC9A3):c.1467G>A:p.Ser489=	coding	Benign
5	482071	C	G	C482071G	SLC9A3	NM_004174.4(SLC9A3):c.1443G>C:p.Gly481=	coding	Benign
5	482074	G	A	G482074A	SLC9A3	NM_004174.4(SLC9A3):c.1440C>T:p.His480=	coding	Benign
5	482538	T	C	T482538C	SLC9A3	NM_004174.4(SLC9A3):c.1356+10A>G	noncoding	Benign
5	482538	T	G	T482538G	SLC9A3	NM_004174.4(SLC9A3):c.1356+10A>C	noncoding	Benign
5	482623	A	G	A482623G	SLC9A3	NM_004174.4(SLC9A3):c.1281T>C:p.Asp427=	coding	Benign
5	482629	A	G	A482629G	SLC9A3	NM_004174.4(SLC9A3):c.1275T>C:p.Leu425=	coding	Benign
5	482690	T	C	T482690C	SLC9A3	NM_004174.4(SLC9A3):c.1214A>G:p.Asp405Gly	coding	Pathogenic
5	482765	G	T	G482765T	SLC9A3	NM_004174.4(SLC9A3):c.1154-15C>A	noncoding	Benign
5	482766	C	T	C482766T	SLC9A3	NM_004174.4(SLC9A3):c.1154-16G>A	noncoding	Benign
5	483248	C	T	C483248T	SLC9A3	NM_004174.4(SLC9A3):c.1153+14G>A	noncoding	Benign
5	483413	G	A	G483413A	SLC9A3	NM_004174.4(SLC9A3):c.1002C>T:p.Thr334=	coding	Benign
5	483449	A	G	A483449G	SLC9A3	NM_004174.4(SLC9A3):c.966T>C:p.Tyr322=	coding	Benign
5	484508	G	T	G484508T	SLC9A3	NM_004174.4(SLC9A3):c.932+12C>A	noncoding	Benign
5	485144	G	T	G485144T	SLC9A3	NM_004174.4(SLC9A3):c.754+9C>A	noncoding	Benign
5	485184	G	A	G485184A	SLC9A3	NM_004174.4(SLC9A3):c.723C>T:p.Asn241=	coding	Benign
5	485247	G	T	G485247T	SLC9A3	NM_004174.4(SLC9A3):c.676-16C>A	noncoding	Benign
5	488412	C	T	C488412T	SLC9A3	NM_004174.4(SLC9A3):c.579G>A:p.Pro193=	coding	Benign
5	491711	G	C	G491711C	SLC9A3	NM_004174.4(SLC9A3):c.514+58C>G	noncoding	Benign
5	491791	G	A	G491791A	SLC9A3	NM_004174.4(SLC9A3):c.492C>T:p.Gly164=	coding	Benign
5	491866	G	A	G491866A	SLC9A3	NM_004174.4(SLC9A3):c.417C>T:p.Asn139=	coding	Benign
5	491875	G	A	G491875A	SLC9A3	NM_004174.4(SLC9A3):c.408C>T:p.Phe136=	coding	Benign
5	492015	C	T	C492015T	SLC9A3	NM_004174.4(SLC9A3):c.268G>A:p.Val90Met	coding	Benign
5	492076	G	T	G492076T	SLC9A3	NM_004174.4(SLC9A3):c.212-5C>A	noncoding	Benign
5	892722	C	T	C892722T	TRIP13	NM_023924.5(BRD9):c.-65G>A	noncoding	Benign
5	892731	C	T	C892731T	TRIP13	NM_023924.5(BRD9):c.-74G>A	noncoding	Benign
5	892754	G	A	G892754A	TRIP13	NM_023924.5(BRD9):c.-97C>T	noncoding	Benign
5	892840	G	A	G892840A	TRIP13	Single_allele	noncoding	Benign
5	893241	C	G	C893241G	TRIP13	NM_004237.4(TRIP13):c.92+151C>G	noncoding	Benign
5	893310	C	G	C893310G	TRIP13	NM_004237.4(TRIP13):c.92+220C>G	noncoding	Benign
5	896429	C	T	C896429T	TRIP13	NM_004237.4(TRIP13):c.259-236C>T	noncoding	Benign
5	896542	G	T	G896542T	TRIP13	NM_004237.4(TRIP13):c.259-123G>T	noncoding	Benign
5	896611	C	G	C896611G	TRIP13	NM_004237.4(TRIP13):c.259-54C>G	noncoding	Benign
5	896868	A	G	A896868G	TRIP13	NM_004237.4(TRIP13):c.388+74A>G	noncoding	Benign
5	900724	T	C	T900724C	TRIP13	NM_004237.4(TRIP13):c.444+175T>C	noncoding	Benign
5	900765	C	T	C900765T	TRIP13	NM_004237.4(TRIP13):c.444+216C>T	noncoding	Benign
5	900799	G	A	G900799A	TRIP13	NM_004237.4(TRIP13):c.444+250G>A	noncoding	Benign
5	901308	T	C	T901308C	TRIP13	NM_004237.4(TRIP13):c.445-33T>C	noncoding	Benign
5	904010	C	T	C904010T	TRIP13	NM_004237.4(TRIP13):c.536-138C>T	noncoding	Benign
5	904259	T	G	T904259G	TRIP13	NM_004237.4(TRIP13):c.608+39T>G	noncoding	Benign
5	906979	C	T	C906979T	TRIP13	NM_004237.4(TRIP13):c.609-151C>T	noncoding	Benign
5	907390	G	A	G907390A	TRIP13	NM_004237.4(TRIP13):c.672+197G>A	noncoding	Benign
5	907820	T	A	T907820A	TRIP13	NM_004237.4(TRIP13):c.673-168T>A	noncoding	Benign
5	907941	C	T	C907941T	TRIP13	NM_004237.4(TRIP13):c.673-47C>T	noncoding	Benign
5	908473	A	G	A908473G	TRIP13	NM_004237.4(TRIP13):c.866+12A>G	coding	Benign
5	908475	G	A	G908475A	TRIP13	NM_004237.4(TRIP13):c.866+14G>A	coding	Benign
5	908481	A	G	A908481G	TRIP13	NM_004237.4(TRIP13):c.866+20A>G	coding	Benign
5	908534	T	C	T908534C	TRIP13	NM_004237.4(TRIP13):c.866+73T>C	coding	Benign
5	911696	G	A	G911696A	TRIP13	NM_004237.4(TRIP13):c.867-147G>A	noncoding	Benign
5	914194	C	T	C914194T	TRIP13	NM_004237.4(TRIP13):c.1021-271C>T	noncoding	Benign
5	914340	G	A	G914340A	TRIP13	NM_004237.4(TRIP13):c.1021-125G>A	noncoding	Benign
5	914549	T	C	T914549C	TRIP13	NM_004237.4(TRIP13):c.1105T>C:p.Leu369=	coding	Benign
5	914821	A	G	A914821G	TRIP13	NM_004237.4(TRIP13):c.1133+244A>G	noncoding	Benign
5	915792	T	C	T915792C	TRIP13	NM_004237.4(TRIP13):c.1134-112T>C	noncoding	Benign
5	915843	T	C	T915843C	TRIP13	NM_004237.4(TRIP13):c.1134-61T>C	noncoding	Benign
5	916775	T	G	T916775G	TRIP13	NM_004237.4(TRIP13):c.1204-233T>G	noncoding	Benign
5	916792	C	G	C916792G	TRIP13	NM_004237.4(TRIP13):c.1204-216C>G	noncoding	Benign
5	916991	G	C	G916991C	TRIP13	NM_004237.4(TRIP13):c.1204-17G>C	noncoding	Benign
5	916995	G	A	G916995A	TRIP13	NM_004237.4(TRIP13):c.1204-13G>A	noncoding	Benign
5	1052245	C	T	C1052245T	SLC12A7	NM_006598.3(SLC12A7):c.*115G>A	noncoding	Benign
5	1053101	G	C	G1053101C	SLC12A7	NM_006598.3(SLC12A7):c.3160+248C>G	noncoding	Benign
5	1053226	A	G	A1053226G	SLC12A7	NM_006598.3(SLC12A7):c.3160+123T>C	noncoding	Benign
5	1053281	C	G	C1053281G	SLC12A7	NM_006598.3(SLC12A7):c.3160+68G>C	noncoding	Benign
5	1053637	A	G	A1053637G	SLC12A7	NM_006598.3(SLC12A7):c.3027-155T>C	noncoding	Benign
5	1057290	G	A	G1057290A	SLC12A7	NM_006598.3(SLC12A7):c.3026+181C>T	noncoding	Benign
5	1057500	A	G	A1057500G	SLC12A7	NM_006598.3(SLC12A7):c.2997T>C:p.Ser999=	coding	Benign
5	1057667	T	C	T1057667C	SLC12A7	NM_006598.3(SLC12A7):c.2848-18A>G	noncoding	Benign
5	1057775	G	A	G1057775A	SLC12A7	NM_006598.3(SLC12A7):c.2848-126C>T	noncoding	Benign
5	1057845	C	T	C1057845T	SLC12A7	NM_006598.3(SLC12A7):c.2848-196G>A	noncoding	Benign
5	1060251	C	G	C1060251G	SLC12A7	NM_006598.3(SLC12A7):c.2847+93G>C	noncoding	Benign
5	1060264	G	A	G1060264A	SLC12A7	NM_006598.3(SLC12A7):c.2847+80C>T	noncoding	Benign
5	1060285	G	A	G1060285A	SLC12A7	NM_006598.3(SLC12A7):c.2847+59C>T	noncoding	Benign
5	1060519	C	T	C1060519T	SLC12A7	NM_006598.3(SLC12A7):c.2740-68G>A	noncoding	Benign
5	1060539	G	A	G1060539A	SLC12A7	NM_006598.3(SLC12A7):c.2740-88C>T	noncoding	Benign
5	1060570	G	A	G1060570A	SLC12A7	NM_006598.3(SLC12A7):c.2740-119C>T	noncoding	Benign
5	1060680	G	A	G1060680A	SLC12A7	NM_006598.3(SLC12A7):c.2740-229C>T	noncoding	Benign
5	1060689	C	T	C1060689T	SLC12A7	NM_006598.3(SLC12A7):c.2740-238G>A	noncoding	Benign
5	1060716	G	A	G1060716A	SLC12A7	NM_006598.3(SLC12A7):c.2740-265C>T	noncoding	Benign
5	1063883	G	A	G1063883A	SLC12A7	NM_006598.3(SLC12A7):c.2700C>T:p.Tyr900=	coding	Benign
5	1065284	C	T	C1065284T	SLC12A7	NM_006598.3(SLC12A7):c.2436G>A:p.Val812=	coding	Benign
5	1065568	A	C	A1065568C	SLC12A7	NM_006598.3(SLC12A7):c.2242-90T>G	noncoding	Benign
5	1065574	C	T	C1065574T	SLC12A7	NM_006598.3(SLC12A7):c.2242-96G>A	noncoding	Benign
5	1073574	C	T	C1073574T	SLC12A7	NM_006598.3(SLC12A7):c.2241+59G>A	noncoding	Benign
5	1074245	A	G	A1074245G	SLC12A7	NM_006598.3(SLC12A7):c.2072+322T>C	noncoding	Benign
5	1074445	A	C	A1074445C	SLC12A7	NM_006598.3(SLC12A7):c.2072+122T>G	noncoding	Benign
5	1074703	C	T	C1074703T	SLC12A7	NM_006598.3(SLC12A7):c.1968-32G>A	noncoding	Benign
5	1074806	G	A	G1074806A	SLC12A7	NM_006598.3(SLC12A7):c.1968-135C>T	noncoding	Benign
5	1074936	A	G	A1074936G	SLC12A7	NM_006598.3(SLC12A7):c.1968-265T>C	noncoding	Benign
5	1076014	T	C	T1076014C	SLC12A7	NM_006598.3(SLC12A7):c.1847+124A>G	noncoding	Benign
5	1076130	G	A	G1076130A	SLC12A7	NM_006598.3(SLC12A7):c.1847+8C>T	noncoding	Benign
5	1076344	G	T	G1076344T	SLC12A7	NM_006598.3(SLC12A7):c.1749-108C>A	noncoding	Benign
5	1076591	C	T	C1076591T	SLC12A7	NM_006598.3(SLC12A7):c.1748+103G>A	noncoding	Benign
5	1077707	A	C	A1077707C	SLC12A7	NM_006598.3(SLC12A7):c.1629+126T>G	noncoding	Benign
5	1078527	C	A	C1078527A	SLC12A7	NM_006598.3(SLC12A7):c.1454+174G>T	noncoding	Benign
5	1078783	A	G	A1078783G	SLC12A7	NM_006598.3(SLC12A7):c.1397-25T>C	noncoding	Benign
5	1078955	G	T	G1078955T	SLC12A7	NM_006598.3(SLC12A7):c.1397-197C>A	noncoding	Benign
5	1081553	G	A	G1081553A	SLC12A7	NM_006598.3(SLC12A7):c.1297+24C>T	noncoding	Benign
5	1081587	A	G	A1081587G	SLC12A7	NM_006598.3(SLC12A7):c.1287T>C:p.Pro429=	coding	Benign
5	1081652	C	T	C1081652T	SLC12A7	NM_006598.3(SLC12A7):c.1222G>A:p.Ala408Thr	coding	Benign
5	1084919	T	C	T1084919C	SLC12A7	NM_006598.3(SLC12A7):c.917+313A>G	noncoding	Benign
5	1085068	T	C	T1085068C	SLC12A7	NM_006598.3(SLC12A7):c.917+164A>G	noncoding	Benign
5	1085489	C	A	C1085489A	SLC12A7	NM_006598.3(SLC12A7):c.676-16G>T	noncoding	Benign
5	1087237	A	G	A1087237G	SLC12A7	NM_006598.3(SLC12A7):c.545-204T>C	noncoding	Benign
5	1087275	A	G	A1087275G	SLC12A7	NM_006598.3(SLC12A7):c.545-242T>C	noncoding	Benign
5	1088757	T	A	T1088757A	SLC12A7	NM_006598.3(SLC12A7):c.489+225A>T	noncoding	Benign
5	1093352	G	A	G1093352A	SLC12A7	NM_006598.3(SLC12A7):c.342+181C>T	noncoding	Benign
5	1094274	T	A	T1094274A	SLC12A7	NM_006598.3(SLC12A7):c.125-26A>T	noncoding	Benign
5	1111542	G	A	G1111542A	SLC12A7	NM_006598.3(SLC12A7):c.124+326C>T	noncoding	Benign
5	1201349	A	G	A1201349G	SLC6A19	Single_allele	noncoding	Benign
5	1201391	C	T	C1201391T	SLC6A19	Single_allele	noncoding	Benign
5	1201643	C	T	C1201643T	SLC6A19	NM_001003841.3(SLC6A19):c.-8C>T	noncoding	Benign
5	1201698	G	A	G1201698A	SLC6A19	NM_001003841.3(SLC6A19):c.48G>A:p.Pro16=	coding	Benign
5	1201885	C	T	C1201885T	SLC6A19	NM_001003841.3(SLC6A19):c.202+33C>T	noncoding	Benign
5	1202027	C	T	C1202027T	SLC6A19	NM_001003841.3(SLC6A19):c.202+175C>T	noncoding	Benign
5	1208849	T	C	T1208849C	SLC6A19	NM_001003841.3(SLC6A19):c.306T>C:p.Gly102=	coding	Benign
5	1208897	C	T	C1208897T	SLC6A19	NM_001003841.3(SLC6A19):c.343+11C>T	noncoding	Benign
5	1208901	G	A	G1208901A	SLC6A19	NM_001003841.3(SLC6A19):c.343+15G>A	noncoding	Benign
5	1208948	A	T	A1208948T	SLC6A19	NM_001003841.3(SLC6A19):c.343+62A>T	noncoding	Benign
5	1209070	C	G	C1209070G	SLC6A19	NM_001003841.3(SLC6A19):c.343+184C>G	noncoding	Benign
5	1209078	C	G	C1209078G	SLC6A19	NM_001003841.3(SLC6A19):c.343+192C>G	noncoding	Benign
5	1210674	G	A	G1210674A	SLC6A19	NM_001003841.3(SLC6A19):c.481+93G>A	noncoding	Benign
5	1212242	C	A	C1212242A	SLC6A19	NM_001003841.3(SLC6A19):c.482-61C>A	noncoding	Benign
5	1212291	C	T	C1212291T	SLC6A19	NM_001003841.3(SLC6A19):c.482-12C>T	noncoding	Benign
5	1212500	G	A	G1212500A	SLC6A19	NM_001003841.3(SLC6A19):c.663+16G>A	noncoding	Benign
5	1212532	C	T	C1212532T	SLC6A19	NM_001003841.3(SLC6A19):c.663+48C>T	noncoding	Benign
5	1213412	A	G	A1213412G	SLC6A19	NM_001003841.3(SLC6A19):c.664-51A>G	noncoding	Benign
5	1213553	G	A	G1213553A	SLC6A19	NM_001003841.3(SLC6A19):c.754G>A:p.Val252Ile	coding	Benign
5	1213949	G	A	G1213949A	SLC6A19	NM_001003841.3(SLC6A19):c.775-4G>A	noncoding	Benign
5	1214027	C	T	C1214027T	SLC6A19	NM_001003841.3(SLC6A19):c.849C>T:p.Phe283=	coding	Benign
5	1214149	A	G	A1214149G	SLC6A19	NM_001003841.3(SLC6A19):c.887+84A>G	noncoding	Benign
5	1216660	A	G	A1216660G	SLC6A19	NM_001003841.3(SLC6A19):c.990A>G:p.Thr330=	coding	Benign
5	1216785	G	A	G1216785A	SLC6A19	NM_001003841.3(SLC6A19):c.1017-4G>A	noncoding	Benign
5	1216959	G	A	G1216959A	SLC6A19	NM_001003841.3(SLC6A19):c.1173+14G>A	noncoding	Benign
5	1218747	C	A	C1218747A	SLC6A19	NM_001003841.3(SLC6A19):c.1174-156C>A	noncoding	Benign
5	1218813	C	T	C1218813T	SLC6A19	NM_001003841.3(SLC6A19):c.1174-90C>T	noncoding	Benign
5	1219201	C	T	C1219201T	SLC6A19	NM_001003841.3(SLC6A19):c.1378+94C>T	noncoding	Benign
5	1219496	G	C	G1219496C	SLC6A19	NM_001003841.3(SLC6A19):c.1379-9G>C	noncoding	Benign
5	1219744	C	T	C1219744T	SLC6A19	NM_001003841.3(SLC6A19):c.1538+80C>T	noncoding	Benign
5	1219759	G	A	G1219759A	SLC6A19	NM_001003841.3(SLC6A19):c.1538+95G>A	noncoding	Benign
5	1221084	T	C	T1221084C	SLC6A19	NM_001003841.3(SLC6A19):c.1539-67T>C	noncoding	Benign
5	1222052	C	T	C1222052T	SLC6A19	NM_001003841.3(SLC6A19):c.*148C>T	noncoding	Benign
5	1222056	T	C	T1222056C	SLC6A19	NM_001003841.3(SLC6A19):c.*152T>C	noncoding	Benign
5	1254132	C	G	C1254132G	TERT	NM_198253.3(TERT):c.3295+236G>C	noncoding	Benign
5	1254136	C	T	C1254136T	TERT	NM_198253.3(TERT):c.3295+232G>A	noncoding	Benign
5	1254336	T	C	T1254336C	TERT	NM_198253.3(TERT):c.3295+32A>G	noncoding	Benign
5	1254828	C	T	C1254828T	TERT	NM_198253.3(TERT):c.3158-323G>A	noncoding	Benign
5	1255507	T	C	T1255507C	TERT	NM_198253.3(TERT):c.3033-96A>G	noncoding	Benign
5	1264524	G	A	G1264524A	TERT	NM_198253.3(TERT):c.2723C>T:p.Pro908Leu	coding	Pathogenic
5	1266524	C	T	C1266524T	TERT	NM_198253.3(TERT):c.2594G>A:p.Arg865His	coding	Pathogenic/Likely_pathogenic
5	1266814	C	G	C1266814G	TERT	NM_198253.3(TERT):c.2583-279G>C	noncoding	Benign
5	1268349	A	G	A1268349G	TERT	NM_198253.3(TERT):c.2582+171T>C	noncoding	Benign
5	1268465	C	T	C1268465T	TERT	NM_198253.3(TERT):c.2582+55G>A	noncoding	Benign
5	1268732	A	C	A1268732C	TERT	NM_198253.3(TERT):c.2469-99T>G	noncoding	Benign
5	1268829	T	A	T1268829A	TERT	NM_198253.3(TERT):c.2469-196A>T	noncoding	Benign
5	1268891	T	C	T1268891C	TERT	NM_198253.3(TERT):c.2469-258A>G	noncoding	Benign
5	1270868	C	G	C1270868G	TERT	NM_198253.3(TERT):c.2468+251G>C	noncoding	Benign
5	1271409	T	C	T1271409C	TERT	NM_198253.3(TERT):c.2383-205A>G	noncoding	Benign
5	1271546	T	C	T1271546C	TERT	NM_198253.3(TERT):c.2383-342A>G	noncoding	Benign
5	1278469	C	T	C1278469T	TERT	NM_198253.3(TERT):c.2286+172G>A	noncoding	Benign
5	1279109	T	G	T1279109G	TERT	NM_198253.3(TERT):c.2130+182A>C	noncoding	Benign
5	1279512	G	A	G1279512A	TERT	NM_198253.3(TERT):c.1951-42C>T	noncoding	Benign
5	1279907	T	C	T1279907C	TERT	NM_198253.3(TERT):c.1950+251A>G	noncoding	Benign
5	1280013	T	C	T1280013C	TERT	NM_198253.3(TERT):c.1950+145A>G	noncoding	Benign
5	1280143	C	T	C1280143T	TERT	NM_198253.3(TERT):c.1950+15G>A	noncoding	Benign
5	1280362	G	A	G1280362A	TERT	NM_198253.3(TERT):c.1770-24C>T	noncoding	Benign
5	1282044	T	C	T1282044C	TERT	NM_198253.3(TERT):c.1769+385A>G	noncoding	Benign
5	1282050	T	C	T1282050C	TERT	NM_198253.3(TERT):c.1769+379A>G	noncoding	Benign
5	1282079	C	T	C1282079T	TERT	NM_198253.3(TERT):c.1769+350G>A	noncoding	Benign
5	1282204	C	A	C1282204A	TERT	NM_198253.3(TERT):c.1769+225G>T	noncoding	Benign
5	1282299	G	A	G1282299A	TERT	NM_198253.3(TERT):c.1769+130C>T	noncoding	Benign
5	1282586	C	A	C1282586A	TERT	NM_198253.3(TERT):c.1612G>T:p.Glu538Ter	coding	Pathogenic
5	1282640	C	G	C1282640G	TERT	NM_198253.3(TERT):c.1574-16G>C	noncoding	Benign/Likely_benign
5	1286401	C	A	C1286401A	TERT	NM_198253.3(TERT):c.1574-3777G>T	noncoding	Benign
5	1293274	C	G	C1293274G	TERT	NM_198253.3(TERT):c.1573+39G>C	noncoding	Benign
5	1294119	C	T	C1294119T	TERT	NM_198253.3(TERT):c.767G>A:p.Trp256Ter	coding	Pathogenic
5	1294288	C	A	C1294288A	TERT	NM_198253.3(TERT):c.598G>T:p.Glu200Ter	coding	Pathogenic
5	1294639	G	A	G1294639A	TERT	NM_198253.3(TERT):c.247C>T:p.Arg83Ter	coding	Pathogenic
5	1295207	G	C	G1295207C	TERT	NM_198253.2(TERT):c.-218C>G	noncoding	Benign/Likely_benign
5	1295258	C	T	C1295258T	TERT	Single_allele	noncoding	Benign
5	1295337	C	G	C1295337G	TERT	Single_allele	noncoding	Benign
5	1297373	C	T	C1297373T	TERT	NC_000005.10:g.1297373C>T	noncoding	Benign
5	1319565	C	A	C1319565A	CLPTM1L	NM_030782.5(CLPTM1L):c.1532+1051G>T	noncoding	Benign
5	1394407	C	T	C1394407T	SLC6A3	NM_001044.5(SLC6A3):c.*328G>A	noncoding	Benign
5	1394485	C	G	C1394485G	SLC6A3	NM_001044.5(SLC6A3):c.*250G>C	noncoding	Benign
5	1394699	C	T	C1394699T	SLC6A3	NM_001044.5(SLC6A3):c.*36G>A	noncoding	Benign
5	1394700	A	G	A1394700G	SLC6A3	NM_001044.5(SLC6A3):c.*35T>C	noncoding	Benign
5	1394962	C	T	C1394962T	SLC6A3	NM_001044.5(SLC6A3):c.1840-204G>A	noncoding	Benign
5	1395016	G	A	G1395016A	SLC6A3	NM_001044.5(SLC6A3):c.1840-258C>T	noncoding	Benign
5	1400635	G	A	G1400635A	SLC6A3	NM_001044.5(SLC6A3):c.1839+280C>T	noncoding	Benign
5	1401265	C	T	C1401265T	SLC6A3	NM_001044.5(SLC6A3):c.1768-279G>A	noncoding	Benign
5	1402909	T	C	T1402909C	SLC6A3	NM_001044.5(SLC6A3):c.1767+13A>G	noncoding	Benign
5	1403087	G	A	G1403087A	SLC6A3	NM_001044.5(SLC6A3):c.1602C>T:p.Phe534=	coding	Benign
5	1403129	G	A	G1403129A	SLC6A3	NM_001044.5(SLC6A3):c.1600-40C>T	noncoding	Benign
5	1405921	C	A	C1405921A	SLC6A3	NM_001044.5(SLC6A3):c.1599+267G>T	noncoding	Benign
5	1406383	C	T	C1406383T	SLC6A3	NM_001044.5(SLC6A3):c.1499-95G>A	noncoding	Benign
5	1406548	G	A	G1406548A	SLC6A3	NM_001044.5(SLC6A3):c.1499-260C>T	noncoding	Benign
5	1408864	A	C	A1408864C	SLC6A3	NM_001044.5(SLC6A3):c.1498+162T>G	noncoding	Benign
5	1409367	C	T	C1409367T	SLC6A3	NM_001044.5(SLC6A3):c.1399-242G>A	noncoding	Benign
5	1409604	C	T	C1409604T	SLC6A3	NM_001044.5(SLC6A3):c.1398+117G>A	noncoding	Benign
5	1409626	G	A	G1409626A	SLC6A3	NM_001044.5(SLC6A3):c.1398+95C>T	noncoding	Benign
5	1409870	C	T	C1409870T	SLC6A3	NM_001044.5(SLC6A3):c.1270-21G>A	noncoding	Benign
5	1409905	T	C	T1409905C	SLC6A3	NM_001044.5(SLC6A3):c.1270-56A>G	noncoding	Benign
5	1409958	A	G	A1409958G	SLC6A3	NM_001044.5(SLC6A3):c.1270-109T>C	noncoding	Benign
5	1411128	G	A	G1411128A	SLC6A3	NM_001044.5(SLC6A3):c.1269+115C>T	noncoding	Benign
5	1411141	A	C	A1411141C	SLC6A3	NM_001044.5(SLC6A3):c.1269+102T>G	noncoding	Benign
5	1411226	C	T	C1411226T	SLC6A3	NM_001044.5(SLC6A3):c.1269+17G>A	noncoding	Benign
5	1411231	C	T	C1411231T	SLC6A3	NM_001044.5(SLC6A3):c.1269+12G>A	noncoding	Benign
5	1411584	C	T	C1411584T	SLC6A3	NM_001044.5(SLC6A3):c.1157-229G>A	noncoding	Benign
5	1414386	A	G	A1414386G	SLC6A3	NM_001044.5(SLC6A3):c.1156+305T>C	noncoding	Benign
5	1414422	G	A	G1414422A	SLC6A3	NM_001044.5(SLC6A3):c.1156+269C>T	noncoding	Benign
5	1414446	G	T	G1414446T	SLC6A3	NM_001044.5(SLC6A3):c.1156+245C>A	noncoding	Benign
5	1414460	G	A	G1414460A	SLC6A3	NM_001044.5(SLC6A3):c.1156+231C>T	noncoding	Benign
5	1414484	T	G	T1414484G	SLC6A3	NM_001044.5(SLC6A3):c.1156+207A>C	noncoding	Benign
5	1414497	C	A	C1414497A	SLC6A3	NM_001044.5(SLC6A3):c.1156+194G>T	noncoding	Benign
5	1414636	G	C	G1414636C	SLC6A3	NM_001044.5(SLC6A3):c.1156+55C>G	noncoding	Benign
5	1414658	G	A	G1414658A	SLC6A3	NM_001044.5(SLC6A3):c.1156+33C>T	noncoding	Benign
5	1414833	G	A	G1414833A	SLC6A3	NM_001044.5(SLC6A3):c.1032-18C>T	noncoding	Benign
5	1416027	C	A	C1416027A	SLC6A3	NM_001044.5(SLC6A3):c.1031+71G>T	noncoding	Benign
5	1420267	T	A	T1420267A	SLC6A3	NM_001044.5(SLC6A3):c.927+302A>T	noncoding	Benign
5	1420361	C	T	C1420361T	SLC6A3	NM_001044.5(SLC6A3):c.927+208G>A	noncoding	Benign
5	1420473	C	G	C1420473G	SLC6A3	NM_001044.5(SLC6A3):c.927+96G>C	noncoding	Benign
5	1420779	G	A	G1420779A	SLC6A3	NM_001044.5(SLC6A3):c.793-76C>T	noncoding	Benign
5	1421617	C	T	C1421617T	SLC6A3	NM_001044.5(SLC6A3):c.792+259G>A	noncoding	Benign
5	1421618	G	A	G1421618A	SLC6A3	NM_001044.5(SLC6A3):c.792+258C>T	noncoding	Benign
5	1432437	G	A	G1432437A	SLC6A3	NM_001044.5(SLC6A3):c.653+27C>T	noncoding	Benign
5	1432451	G	A	G1432451A	SLC6A3	NM_001044.5(SLC6A3):c.653+13C>T	noncoding	Benign/Likely_benign
5	1432761	G	A	G1432761A	SLC6A3	NM_001044.5(SLC6A3):c.419-63C>T	noncoding	Benign
5	1432766	C	T	C1432766T	SLC6A3	NM_001044.5(SLC6A3):c.419-68G>A	noncoding	Benign
5	1441191	C	T	C1441191T	SLC6A3	NM_001044.5(SLC6A3):c.418+168G>A	noncoding	Benign
5	1441321	G	A	G1441321A	SLC6A3	NM_001044.5(SLC6A3):c.418+38C>T	noncoding	Benign
5	1442617	G	C	G1442617C	SLC6A3	NM_001044.5(SLC6A3):c.286+295C>G	noncoding	Benign
5	1442642	C	T	C1442642T	SLC6A3	NM_001044.5(SLC6A3):c.286+270G>A	noncoding	Benign
5	1442727	C	T	C1442727T	SLC6A3	NM_001044.5(SLC6A3):c.286+185G>A	noncoding	Benign
5	1442859	C	A	C1442859A	SLC6A3	NM_001044.5(SLC6A3):c.286+53G>T	noncoding	Benign
5	1442864	C	T	C1442864T	SLC6A3	NM_001044.5(SLC6A3):c.286+48G>A	noncoding	Benign
5	1442872	G	A	G1442872A	SLC6A3	NM_001044.5(SLC6A3):c.286+40C>T	noncoding	Benign
5	1442892	G	C	G1442892C	SLC6A3	NM_001044.5(SLC6A3):c.286+20C>G	noncoding	Benign
5	1443383	G	A	G1443383A	SLC6A3	NM_001044.5(SLC6A3):c.-45-141C>T	noncoding	Benign
5	1443488	T	C	T1443488C	SLC6A3	NM_001044.5(SLC6A3):c.-45-246A>G	noncoding	Benign
5	1443489	C	T	C1443489T	SLC6A3	NM_001044.5(SLC6A3):c.-45-247G>A	noncoding	Benign
5	1801063	G	T	G1801063T	NDUFS6	Single_allele	noncoding	Benign
5	1801312	G	C	G1801312C	NDUFS6	Single_allele	noncoding	Benign
5	1801318	A	G	A1801318G	NDUFS6	Single_allele	noncoding	Benign
5	1801463	G	T	G1801463T	NDUFS6	NM_004553.6(NDUFS6):c.46G>T:p.Glu16Ter	coding	Pathogenic
5	1801575	A	C	A1801575C	NDUFS6	NM_004553.6(NDUFS6):c.132+26A>C	noncoding	Benign
5	1814466	G	A	G1814466A	NDUFS6	NM_004553.6(NDUFS6):c.309+5G>A	noncoding	Pathogenic/Likely_pathogenic
5	1815884	T	C	T1815884C	NDUFS6	NM_004553.6(NDUFS6):c.343T>C:p.Cys115Arg	coding	Pathogenic
5	1877907	G	A	G1877907A	IRX4	NM_016358.3(IRX4):c.*62C>T	noncoding	Benign
5	1878098	G	A	G1878098A	IRX4	NM_016358.3(IRX4):c.1431C>T:p.Gly477=	coding	Benign
5	1878326	C	T	C1878326T	IRX4	NM_016358.3(IRX4):c.1203G>A:p.Ala401=	coding	Benign
5	1879114	C	T	C1879114T	IRX4	NM_016358.3(IRX4):c.737-322G>A	noncoding	Benign
5	1880474	T	G	T1880474G	IRX4	NM_016358.3(IRX4):c.407+251A>C	noncoding	Benign
5	1880751	T	C	T1880751C	IRX4	NM_016358.3(IRX4):c.381A>G:p.Pro127=	coding	Benign
5	1880777	C	T	C1880777T	IRX4	NM_016358.3(IRX4):c.355G>A:p.Ala119Thr	coding	Benign
5	1881619	T	C	T1881619C	IRX4	NM_016358.3(IRX4):c.297+189A>G	noncoding	Benign
5	1881802	A	C	A1881802C	IRX4	NM_016358.3(IRX4):c.297+6T>G	noncoding	Benign
5	1882006	C	A	C1882006A	IRX4	NM_016358.3(IRX4):c.99G>T:p.Thr33=	coding	Benign/Likely_benign
5	1882015	T	G	T1882015G	IRX4	NM_016358.3(IRX4):c.90A>C:p.Gly30=	coding	Benign
5	1882166	C	G	C1882166G	IRX4	NM_016358.3(IRX4):c.46-107G>C	noncoding	Benign
5	1882272	C	G	C1882272G	IRX4	NM_016358.3(IRX4):c.46-213G>C	noncoding	Benign
5	1882329	T	C	T1882329C	IRX4	NM_016358.3(IRX4):c.46-270A>G	noncoding	Benign
5	1882465	G	A	G1882465A	IRX4	NM_016358.3(IRX4):c.45+138C>T	noncoding	Benign
5	1882786	C	T	C1882786T	IRX4	NM_016358.3(IRX4):c.-139G>A	noncoding	Benign
5	1882826	A	C	A1882826C	IRX4	NM_016358.3(IRX4):c.-179T>G	noncoding	Benign
5	1882838	C	A	C1882838A	IRX4	NM_016358.3(IRX4):c.-191G>T	noncoding	Benign
5	1883050	T	C	T1883050C	IRX4	NM_001278632.1(IRX4):c.-100-303A>G	noncoding	Benign
5	5462035	G	A	G5462035A	ICE1	NM_015325.3(ICE1):c.2701G>A:p.Val901Ile	coding	Benign
5	6600490	A	C	A6600490C	NSUN2	NM_017755.6(NSUN2):c.1998-258T>G	noncoding	Benign
5	6602162	C	T	C6602162T	NSUN2	NM_017755.6(NSUN2):c.1997+299G>A	noncoding	Benign
5	6602431	T	C	T6602431C	NSUN2	NM_017755.6(NSUN2):c.1997+30A>G	noncoding	Benign
5	6602446	C	A	C6602446A	NSUN2	NM_017755.6(NSUN2):c.1997+15G>T	noncoding	Benign
5	6602555	G	C	G6602555C	NSUN2	NM_017755.6(NSUN2):c.1958-55C>G	noncoding	Benign
5	6602581	T	C	T6602581C	NSUN2	NM_017755.6(NSUN2):c.1958-81A>G	noncoding	Benign
5	6602698	G	A	G6602698A	NSUN2	NM_017755.6(NSUN2):c.1958-198C>T	noncoding	Benign
5	6603829	C	T	C6603829T	NSUN2	NM_017755.6(NSUN2):c.1957+309G>A	noncoding	Benign
5	6604026	A	C	A6604026C	NSUN2	NM_017755.6(NSUN2):c.1957+112T>G	noncoding	Benign
5	6604092	A	G	A6604092G	NSUN2	NM_017755.6(NSUN2):c.1957+46T>C	noncoding	Benign
5	6604329	G	A	G6604329A	NSUN2	NM_017755.6(NSUN2):c.1819-53C>T	noncoding	Benign
5	6604818	C	T	C6604818T	NSUN2	NM_017755.6(NSUN2):c.1738-133G>A	noncoding	Benign
5	6604839	C	T	C6604839T	NSUN2	NM_017755.6(NSUN2):c.1738-154G>A	noncoding	Benign
5	6604857	G	A	G6604857A	NSUN2	NM_017755.6(NSUN2):c.1738-172C>T	noncoding	Benign
5	6605158	G	A	G6605158A	NSUN2	NM_017755.6(NSUN2):c.1737+115C>T	noncoding	Benign
5	6605256	G	A	G6605256A	NSUN2	NM_017755.6(NSUN2):c.1737+17C>T	noncoding	Benign
5	6605427	T	C	T6605427C	NSUN2	NM_017755.6(NSUN2):c.1602-19A>G	noncoding	Benign/Likely_benign
5	6606694	G	A	G6606694A	NSUN2	NM_017755.6(NSUN2):c.1601+126C>T	noncoding	Benign
5	6607031	T	C	T6607031C	NSUN2	NM_017755.6(NSUN2):c.1509-119A>G	noncoding	Benign
5	6607110	C	T	C6607110T	NSUN2	NM_017755.6(NSUN2):c.1508+90G>A	noncoding	Benign
5	6610798	T	C	T6610798C	NSUN2	NM_017755.6(NSUN2):c.1226+157A>G	noncoding	Benign
5	6611016	G	A	G6611016A	NSUN2	NM_017755.6(NSUN2):c.1165C>T:p.Arg389Ter	coding	Pathogenic
5	6611102	T	C	T6611102C	NSUN2	NM_017755.6(NSUN2):c.1096-17A>G	noncoding	Benign
5	6611644	A	T	A6611644T	NSUN2	NM_017755.6(NSUN2):c.1095+81T>A	noncoding	Benign
5	6611712	G	A	G6611712A	NSUN2	NM_017755.6(NSUN2):c.1095+13C>T	noncoding	Benign
5	6611724	C	T	C6611724T	NSUN2	NM_017755.6(NSUN2):c.1095+1G>A	noncoding	Pathogenic
5	6611749	C	T	C6611749T	NSUN2	NM_017755.6(NSUN2):c.1071G>A:p.Trp357Ter	coding	Pathogenic
5	6611870	C	A	C6611870A	NSUN2	NM_017755.6(NSUN2):c.1022-72G>T	noncoding	Benign
5	6611914	T	C	T6611914C	NSUN2	NM_017755.6(NSUN2):c.1022-116A>G	noncoding	Benign
5	6611956	C	T	C6611956T	NSUN2	NM_017755.6(NSUN2):c.1022-158G>A	noncoding	Benign
5	6616419	T	C	T6616419C	NSUN2	NM_017755.6(NSUN2):c.1021+308A>G	noncoding	Benign
5	6616623	C	T	C6616623T	NSUN2	NM_017755.6(NSUN2):c.1021+104G>A	noncoding	Benign
5	6616795	T	G	T6616795G	NSUN2	NM_017755.6(NSUN2):c.953A>C:p.Tyr318Ser	coding	Pathogenic
5	6616898	C	A	C6616898A	NSUN2	NM_017755.6(NSUN2):c.891-41G>T	noncoding	Benign
5	6618073	T	C	T6618073C	NSUN2	NM_017755.6(NSUN2):c.816-49A>G	noncoding	Benign
5	6618210	G	C	G6618210C	NSUN2	NM_017755.6(NSUN2):c.816-186C>G	noncoding	Benign
5	6619810	A	G	A6619810G	NSUN2	NM_017755.6(NSUN2):c.815+296T>C	noncoding	Benign
5	6619979	C	T	C6619979T	NSUN2	NM_017755.6(NSUN2):c.815+127G>A	noncoding	Benign
5	6620080	G	T	G6620080T	NSUN2	NM_017755.6(NSUN2):c.815+26C>A	noncoding	Benign
5	6620131	G	A	G6620131A	NSUN2	NM_017755.6(NSUN2):c.790C>T:p.Arg264Ter	coding	Pathogenic/Likely_pathogenic
5	6620159	G	A	G6620159A	NSUN2	NM_017755.6(NSUN2):c.762C>T:p.Asp254=	coding	Benign/Likely_benign
5	6620346	A	G	A6620346G	NSUN2	NM_017755.6(NSUN2):c.623-48T>C	noncoding	Benign
5	6620546	G	T	G6620546T	NSUN2	NM_017755.6(NSUN2):c.623-248C>A	noncoding	Benign
5	6621904	T	G	T6621904G	NSUN2	NM_017755.6(NSUN2):c.622+112A>C	noncoding	Benign
5	6622111	A	C	A6622111C	NSUN2	NM_017755.6(NSUN2):c.538-11T>G	noncoding	Pathogenic
5	6623319	G	A	G6623319A	NSUN2	NM_017755.6(NSUN2):c.466-34C>T	noncoding	Benign
5	6625670	C	G	C6625670G	NSUN2	NM_017755.6(NSUN2):c.360-1G>C	coding	Pathogenic
5	6625978	G	A	G6625978A	NSUN2	NM_017755.6(NSUN2):c.360-309C>T	noncoding	Benign
5	6632182	T	G	T6632182G	NSUN2	NM_017755.6(NSUN2):c.255-205A>C	noncoding	Benign
5	6632207	C	A	C6632207A	NSUN2	NM_017755.6(NSUN2):c.255-230G>T	noncoding	Benign
5	6632796	G	A	G6632796A	NSUN2	NM_017755.6(NSUN2):c.97-40C>T	noncoding	Benign
5	6632829	G	T	G6632829T	NSUN2	NM_017755.6(NSUN2):c.96+55C>A	noncoding	Benign
5	6632867	C	T	C6632867T	NSUN2	NM_017755.6(NSUN2):c.96+17G>A	noncoding	Benign/Likely_benign
5	6633666	C	G	C6633666G	NSUN2	NM_001047.4(SRD5A1):c.90C>G:p.Arg30=	coding	Benign
5	7757592	T	C	T7757592C	ADCY2	NM_020546.3(ADCY2):c.2094+6T>C	noncoding	Benign
5	7757602	C	T	C7757602T	ADCY2	NM_020546.3(ADCY2):c.2094+16C>T	noncoding	Benign
5	7802250	C	T	C7802250T	ADCY2	NM_020546.3(ADCY2):c.2661C>T:p.Cys887=	coding	Benign
5	7869465	C	T	C7869465T	MTRR	NM_002454.3(MTRR):c.-26+250C>T	noncoding	Benign
5	7869970	C	A	C7869970A	MTRR	NM_002454.3(MTRR):c.-26+755C>A	noncoding	Benign
5	7870860	A	G	A7870860G	MTRR	NM_002454.3(MTRR):c.66A>G:p.Ile22Met	coding	Benign
5	7873409	G	A	G7873409A	MTRR	NM_002454.3(MTRR):c.166G>A:p.Val56Met	coding	Pathogenic/Likely_pathogenic
5	7873805	G	A	G7873805A	MTRR	NM_002454.3(MTRR):c.283+279G>A	noncoding	Benign
5	7875194	C	G	C7875194G	MTRR	NM_002454.3(MTRR):c.284-64C>G	noncoding	Benign
5	7875585	G	A	G7875585A	MTRR	NM_002454.3(MTRR):c.401+210G>A	noncoding	Benign
5	7877718	C	T	C7877718T	MTRR	NM_002454.3(MTRR):c.402-226C>T	noncoding	Benign
5	7878305	C	T	C7878305T	MTRR	NM_002454.3(MTRR):c.763C>T:p.Gln255Ter	coding	Pathogenic
5	7878342	T	C	T7878342C	MTRR	NM_002454.3(MTRR):c.780+20T>C	noncoding	Benign/Likely_benign
5	7878490	G	A	G7878490A	MTRR	NM_002454.3(MTRR):c.780+168G>A	noncoding	Benign
5	7882866	C	T	C7882866T	MTRR	NM_002454.3(MTRR):c.781-289C>T	noncoding	Benign
5	7883075	G	A	G7883075A	MTRR	NM_002454.3(MTRR):c.781-80G>A	noncoding	Benign
5	7883141	A	G	A7883141G	MTRR	NM_002454.3(MTRR):c.781-14A>G	noncoding	Benign/Likely_benign
5	7883795	T	A	T7883795A	MTRR	NM_002454.3(MTRR):c.903+518T>A	noncoding	Benign
5	7885413	T	C	T7885413C	MTRR	NM_002454.3(MTRR):c.904-288T>C	noncoding	Benign
5	7885991	T	C	T7885991C	MTRR	NM_002454.3(MTRR):c.1057+137T>C	noncoding	Benign
5	7886018	G	C	G7886018C	MTRR	NM_002454.3(MTRR):c.1057+164G>C	noncoding	Benign
5	7886680	G	T	G7886680T	MTRR	NM_002454.3(MTRR):c.1123G>T:p.Glu375Ter	coding	Pathogenic
5	7889081	G	A	G7889081A	MTRR	NM_002454.3(MTRR):c.1147-14G>A	noncoding	Benign
5	7889104	C	T	C7889104T	MTRR	NM_002454.3(MTRR):c.1156C>T:p.Arg386Ter	coding	Pathogenic
5	7891097	A	G	A7891097G	MTRR	NM_002454.3(MTRR):c.1328-275A>G	noncoding	Benign
5	7891383	A	T	A7891383T	MTRR	NM_002454.3(MTRR):c.1339A>T:p.Lys447Ter	coding	Pathogenic
5	7891497	A	G	A7891497G	MTRR	NM_002454.3(MTRR):c.1370+83A>G	noncoding	Benign
5	7891683	C	T	C7891683T	MTRR	NM_002454.3(MTRR):c.1370+269C>T	noncoding	Benign
5	7892531	A	T	A7892531T	MTRR	NM_002454.3(MTRR):c.1371-196A>T	noncoding	Benign
5	7892603	A	C	A7892603C	MTRR	NM_002454.3(MTRR):c.1371-124A>C	noncoding	Benign
5	7892860	C	T	C7892860T	MTRR	NM_002454.3(MTRR):c.1504C>T:p.Gln502Ter	coding	Pathogenic
5	7892967	T	C	T7892967C	MTRR	NM_002454.3(MTRR):c.1557+54T>C	noncoding	Benign
5	7893008	G	A	G7893008A	MTRR	NM_002454.3(MTRR):c.1557+95G>A	noncoding	Benign
5	7893140	C	T	C7893140T	MTRR	NM_002454.3(MTRR):c.1557+227C>T	noncoding	Benign
5	7895407	G	A	G7895407A	MTRR	NM_002454.3(MTRR):c.1558-327G>A	noncoding	Benign
5	7896138	G	A	G7896138A	MTRR	NM_002454.3(MTRR):c.1676+286G>A	noncoding	Benign
5	7897075	A	T	A7897075T	MTRR	NM_002454.3(MTRR):c.1780A>T:p.Arg594Ter	coding	Pathogenic/Likely_pathogenic
5	7899731	A	G	A7899731G	MTRR	NM_002454.3(MTRR):c.1953-183A>G	noncoding	Benign
5	7899737	T	C	T7899737C	MTRR	NM_002454.3(MTRR):c.1953-177T>C	noncoding	Benign
5	7899796	G	C	G7899796C	MTRR	NM_002454.3(MTRR):c.1953-118G>C	noncoding	Benign
5	9154547	G	C	G9154547C	SEMA5A	NM_003966.3(SEMA5A):c.1422C>G:p.Gly474=	coding	Benign
5	10249898	A	T	A10249898T	CCT5	Single_allele	noncoding	Benign
5	10250616	C	G	C10250616G	CCT5	NM_012073.5(CCT5):c.105+171C>G	coding	Benign
5	10254005	C	T	C10254005T	CCT5	NM_012073.5(CCT5):c.106-140C>T	noncoding	Benign
5	10254909	T	C	T10254909C	CCT5	NM_012073.5(CCT5):c.331+71T>C	noncoding	Benign
5	10254971	A	C	A10254971C	CCT5	NM_012073.5(CCT5):c.331+133A>C	noncoding	Benign
5	10255022	A	G	A10255022G	CCT5	NM_012073.5(CCT5):c.331+184A>G	noncoding	Benign
5	10255709	T	C	T10255709C	CCT5	NM_012073.5(CCT5):c.332-246T>C	noncoding	Benign
5	10256253	C	T	C10256253T	CCT5	NM_012073.5(CCT5):c.530+100C>T	noncoding	Benign
5	10258013	G	A	G10258013A	CCT5	NM_012073.5(CCT5):c.531-98G>A	noncoding	Benign
5	10260464	A	G	A10260464G	CCT5	NM_012073.5(CCT5):c.874-328A>G	noncoding	Benign
5	10260776	G	T	G10260776T	CCT5	NM_012073.5(CCT5):c.874-16G>T	noncoding	Benign
5	10260953	C	T	C10260953T	CCT5	NM_012073.5(CCT5):c.993+42C>T	noncoding	Benign
5	10261138	C	G	C10261138G	CCT5	NM_012073.5(CCT5):c.993+227C>G	noncoding	Benign
5	10261296	T	G	T10261296G	CCT5	NM_012073.5(CCT5):c.994-264T>G	noncoding	Benign
5	10261322	G	C	G10261322C	CCT5	NM_012073.5(CCT5):c.994-238G>C	noncoding	Benign
5	10261430	C	T	C10261430T	CCT5	NM_012073.5(CCT5):c.994-130C>T	noncoding	Benign
5	10261854	G	A	G10261854A	CCT5	NM_012073.5(CCT5):c.1179+109G>A	noncoding	Benign
5	10262235	G	A	G10262235A	CCT5	NM_012073.5(CCT5):c.1180-246G>A	noncoding	Benign
5	10262254	C	T	C10262254T	CCT5	NM_012073.5(CCT5):c.1180-227C>T	noncoding	Benign
5	10262293	G	A	G10262293A	CCT5	NM_012073.5(CCT5):c.1180-188G>A	noncoding	Benign
5	10262658	C	T	C10262658T	CCT5	NM_012073.5(CCT5):c.1317+40C>T	noncoding	Benign
5	10262929	A	C	A10262929C	CCT5	NM_012073.5(CCT5):c.1318-205A>C	noncoding	Benign
5	10263342	A	G	A10263342G	CCT5	NM_012073.5(CCT5):c.1498+28A>G	noncoding	Benign
5	10263344	G	A	G10263344A	CCT5	NM_012073.5(CCT5):c.1498+30G>A	noncoding	Benign
5	10263345	G	A	G10263345A	CCT5	NM_012073.5(CCT5):c.1498+31G>A	noncoding	Benign
5	10263352	A	G	A10263352G	CCT5	NM_012073.5(CCT5):c.1498+38A>G	noncoding	Benign
5	10263470	G	A	G10263470A	CCT5	NM_012073.5(CCT5):c.1498+156G>A	noncoding	Benign
5	10263505	G	A	G10263505A	CCT5	NM_012073.5(CCT5):c.1498+191G>A	noncoding	Benign
5	10263580	T	G	T10263580G	CCT5	NM_012073.5(CCT5):c.1498+266T>G	noncoding	Benign
5	10263613	G	A	G10263613A	CCT5	NM_012073.5(CCT5):c.1498+299G>A	noncoding	Benign
5	10973615	G	A	G10973615A	CTNND2	NM_001332.4(CTNND2):c.3516C>T:p.Phe1172=	coding	Benign
5	10973719	C	T	C10973719T	CTNND2	NM_001332.4(CTNND2):c.3418-6G>A	noncoding	Benign
5	10973815	T	C	T10973815C	CTNND2	NM_001332.4(CTNND2):c.3418-102A>G	noncoding	Benign
5	10973903	G	A	G10973903A	CTNND2	NM_001332.4(CTNND2):c.3418-190C>T	noncoding	Benign
5	10974042	G	A	G10974042A	CTNND2	NM_001332.4(CTNND2):c.3418-329C>T	noncoding	Benign
5	10981481	G	A	G10981481A	CTNND2	NM_001332.4(CTNND2):c.3417+292C>T	noncoding	Benign
5	10981519	T	C	T10981519C	CTNND2	NM_001332.4(CTNND2):c.3417+254A>G	noncoding	Benign
5	10981539	T	C	T10981539C	CTNND2	NM_001332.4(CTNND2):c.3417+234A>G	noncoding	Benign
5	10981608	G	C	G10981608C	CTNND2	NM_001332.4(CTNND2):c.3417+165C>G	noncoding	Benign
5	10981659	G	C	G10981659C	CTNND2	NM_001332.4(CTNND2):c.3417+114C>G	noncoding	Benign
5	10981809	A	T	A10981809T	CTNND2	NM_001332.4(CTNND2):c.3381T>A:p.Ser1127=	coding	Benign
5	10981857	A	G	A10981857G	CTNND2	NM_001332.4(CTNND2):c.3344-11T>C	noncoding	Benign
5	10988060	T	C	T10988060C	CTNND2	NM_001332.4(CTNND2):c.3343+51A>G	noncoding	Benign
5	10988144	C	T	C10988144T	CTNND2	NM_001332.4(CTNND2):c.3310G>A:p.Gly1104Ser	coding	Benign
5	10988462	T	C	T10988462C	CTNND2	NM_001332.4(CTNND2):c.3212-220A>G	noncoding	Benign
5	10988571	G	C	G10988571C	CTNND2	NM_001332.4(CTNND2):c.3212-329C>G	noncoding	Benign
5	10992871	G	C	G10992871C	CTNND2	NM_001332.4(CTNND2):c.3085-194C>G	noncoding	Benign
5	11017840	G	A	G11017840A	CTNND2	NM_001332.4(CTNND2):c.3084+134C>T	noncoding	Benign
5	11017958	G	A	G11017958A	CTNND2	NM_001332.4(CTNND2):c.3084+16C>T	noncoding	Benign
5	11022732	T	C	T11022732C	CTNND2	NM_001332.4(CTNND2):c.2999+37A>G	noncoding	Benign
5	11022733	A	G	A11022733G	CTNND2	NM_001332.4(CTNND2):c.2999+36T>C	noncoding	Benign
5	11082413	A	T	A11082413T	CTNND2	NM_001332.4(CTNND2):c.2788+283T>A	noncoding	Benign
5	11082500	A	G	A11082500G	CTNND2	NM_001332.4(CTNND2):c.2788+196T>C	noncoding	Benign
5	11082650	T	C	T11082650C	CTNND2	NM_001332.4(CTNND2):c.2788+46A>G	noncoding	Benign
5	11083169	A	G	A11083169G	CTNND2	NM_001332.4(CTNND2):c.2638-323T>C	noncoding	Benign
5	11098449	T	C	T11098449C	CTNND2	NM_001332.4(CTNND2):c.2637+126A>G	noncoding	Benign
5	11098457	T	C	T11098457C	CTNND2	NM_001332.4(CTNND2):c.2637+118A>G	noncoding	Benign
5	11098875	C	T	C11098875T	CTNND2	NM_001332.4(CTNND2):c.2464-127G>A	noncoding	Benign
5	11111005	C	T	C11111005T	CTNND2	NM_001332.4(CTNND2):c.2316G>A:p.Ser772=	coding	Benign/Likely_benign
5	11111141	T	G	T11111141G	CTNND2	NM_001332.4(CTNND2):c.2278-98A>C	noncoding	Benign
5	11111232	C	T	C11111232T	CTNND2	NM_001332.4(CTNND2):c.2278-189G>A	noncoding	Benign
5	11117186	C	T	C11117186T	CTNND2	NM_001332.4(CTNND2):c.2277+264G>A	noncoding	Benign
5	11117227	T	C	T11117227C	CTNND2	NM_001332.4(CTNND2):c.2277+223A>G	noncoding	Benign
5	11117272	A	T	A11117272T	CTNND2	NM_001332.4(CTNND2):c.2277+178T>A	noncoding	Benign
5	11117471	C	T	C11117471T	CTNND2	NM_001332.4(CTNND2):c.2256G>A:p.Gly752=	coding	Benign
5	11117581	G	C	G11117581C	CTNND2	NM_001332.4(CTNND2):c.2160-14C>G	noncoding	Benign
5	11117592	C	T	C11117592T	CTNND2	NM_001332.4(CTNND2):c.2160-25G>A	noncoding	Benign
5	11159409	C	T	C11159409T	CTNND2	NM_001332.4(CTNND2):c.2159+167G>A	noncoding	Benign
5	11159545	T	C	T11159545C	CTNND2	NM_001332.4(CTNND2):c.2159+31A>G	noncoding	Benign
5	11159734	G	A	G11159734A	CTNND2	NM_001332.4(CTNND2):c.2001C>T:p.Cys667=	coding	Benign
5	11159931	A	G	A11159931G	CTNND2	NM_001332.4(CTNND2):c.1976-172T>C	noncoding	Benign
5	11199189	A	T	A11199189T	CTNND2	NM_001332.4(CTNND2):c.1975+259T>A	noncoding	Benign
5	11199422	T	C	T11199422C	CTNND2	NM_001332.4(CTNND2):c.1975+26A>G	noncoding	Benign
5	11199676	G	A	G11199676A	CTNND2	NM_001332.4(CTNND2):c.1762-15C>T	noncoding	Benign
5	11199884	C	T	C11199884T	CTNND2	NM_001332.4(CTNND2):c.1762-223G>A	noncoding	Benign
5	11346044	C	T	C11346044T	CTNND2	NM_001332.4(CTNND2):c.1628+328G>A	noncoding	Benign
5	11346321	G	A	G11346321A	CTNND2	NM_001332.4(CTNND2):c.1628+51C>T	noncoding	Benign
5	11346354	A	G	A11346354G	CTNND2	NM_001332.4(CTNND2):c.1628+18T>C	noncoding	Benign
5	11346488	T	C	T11346488C	CTNND2	NM_001332.4(CTNND2):c.1512A>G:p.Arg504=	coding	Benign
5	11346520	C	T	C11346520T	CTNND2	NM_001332.4(CTNND2):c.1480G>A:p.Gly494Ser	coding	Benign
5	11346881	A	G	A11346881G	CTNND2	NM_001332.4(CTNND2):c.1373-254T>C	noncoding	Benign
5	11346908	A	G	A11346908G	CTNND2	NM_001332.4(CTNND2):c.1373-281T>C	noncoding	Benign
5	11346909	T	C	T11346909C	CTNND2	NM_001332.4(CTNND2):c.1373-282A>G	noncoding	Benign
5	11364909	G	A	G11364909A	CTNND2	NM_001332.4(CTNND2):c.1178-19C>T	noncoding	Benign
5	11365054	C	T	C11365054T	CTNND2	NM_001332.4(CTNND2):c.1178-164G>A	noncoding	Benign
5	11385019	C	A	C11385019A	CTNND2	NM_001332.4(CTNND2):c.823G>T:p.Gly275Cys	coding	Benign
5	11385091	C	T	C11385091T	CTNND2	NM_001332.4(CTNND2):c.751G>A:p.Ala251Thr	coding	Benign
5	11385116	G	A	G11385116A	CTNND2	NM_001332.4(CTNND2):c.726C>T:p.Asp242=	coding	Benign/Likely_benign
5	11385164	C	A	C11385164A	CTNND2	NM_001332.4(CTNND2):c.678G>T:p.Pro226=	coding	Benign
5	11396870	A	T	A11396870T	CTNND2	NM_001332.4(CTNND2):c.612+161T>A	noncoding	Benign
5	11397076	C	T	C11397076T	CTNND2	NM_001332.4(CTNND2):c.567G>A:p.Pro189=	coding	Benign
5	11397461	C	A	C11397461A	CTNND2	NM_001332.4(CTNND2):c.440-258G>T	noncoding	Benign
5	11412266	G	A	G11412266A	CTNND2	NM_001332.4(CTNND2):c.288-197C>T	noncoding	Benign
5	11564883	A	G	A11564883G	CTNND2	NM_001332.4(CTNND2):c.287+61T>C	noncoding	Benign
5	11565393	A	G	A11565393G	CTNND2	NM_001332.4(CTNND2):c.175-337T>C	noncoding	Benign
5	11732032	G	A	G11732032A	CTNND2	NM_001332.4(CTNND2):c.174+104C>T	noncoding	Benign
5	11732210	C	T	C11732210T	CTNND2	NM_001332.4(CTNND2):c.100G>A:p.Gly34Ser	coding	Benign
5	11732234	C	G	C11732234G	CTNND2	NM_001332.4(CTNND2):c.76G>C:p.Glu26Gln	coding	Benign
5	11732356	C	A	C11732356A	CTNND2	NM_001332.4(CTNND2):c.38-84G>T	noncoding	Benign
5	11732423	C	G	C11732423G	CTNND2	NM_001332.4(CTNND2):c.38-151G>C	noncoding	Benign
5	11903862	C	T	C11903862T	CTNND2	NM_001332.4(CTNND2):c.-9G>A	noncoding	Benign
5	13692113	G	T	G13692113T	DNAH5	NM_001369.3(DNAH5):c.13746C>A:p.Tyr4582Ter	coding	Pathogenic
5	13700609	G	A	G13700609A	DNAH5	NM_001369.3(DNAH5):c.13723+31C>T	noncoding	Benign
5	13700886	A	G	A13700886G	DNAH5	NM_001369.3(DNAH5):c.13492-15T>C	noncoding	Benign/Likely_benign
5	13700956	G	A	G13700956A	DNAH5	NM_001369.3(DNAH5):c.13492-85C>T	noncoding	Benign
5	13701058	A	C	A13701058C	DNAH5	NM_001369.3(DNAH5):c.13492-187T>G	noncoding	Benign
5	13701058	A	G	A13701058G	DNAH5	NM_001369.3(DNAH5):c.13492-187T>C	noncoding	Benign
5	13701218	A	G	A13701218G	DNAH5	NM_001369.3(DNAH5):c.13491+66T>C	noncoding	Benign
5	13701545	T	C	T13701545C	DNAH5	NM_001369.3(DNAH5):c.13339-109A>G	noncoding	Benign
5	13701590	G	A	G13701590A	DNAH5	NM_001369.3(DNAH5):c.13339-154C>T	noncoding	Benign
5	13708129	C	T	C13708129T	DNAH5	NM_001369.3(DNAH5):c.13332G>A:p.Trp4444Ter	coding	Pathogenic
5	13716489	G	A	G13716489A	DNAH5	NM_001369.3(DNAH5):c.12907C>T:p.Gln4303Ter	coding	Pathogenic
5	13716680	C	T	C13716680T	DNAH5	NM_001369.3(DNAH5):c.12716G>A:p.Trp4239Ter	coding	Pathogenic
5	13716909	G	A	G13716909A	DNAH5	NM_001369.3(DNAH5):c.12706-219C>T	noncoding	Benign
5	13717356	G	A	G13717356A	DNAH5	NM_001369.3(DNAH5):c.12664C>T:p.Gln4222Ter	coding	Pathogenic
5	13717406	C	A	C13717406A	DNAH5	NM_001369.3(DNAH5):c.12614G>T:p.Gly4205Val	coding	Pathogenic
5	13717521	C	T	C13717521T	DNAH5	NM_001369.3(DNAH5):c.12500-1G>A	coding	Pathogenic
5	13717714	A	C	A13717714C	DNAH5	NM_001369.3(DNAH5):c.12500-194T>G	noncoding	Benign
5	13718984	C	A	C13718984A	DNAH5	NM_001369.3(DNAH5):c.12397G>T:p.Glu4133Ter	coding	Pathogenic
5	13719035	T	C	T13719035C	DNAH5	NM_001369.3(DNAH5):c.12346A>G:p.Ile4116Val	coding	Benign/Likely_benign
5	13719325	A	C	A13719325C	DNAH5	NM_001369.3(DNAH5):c.12280-224T>G	noncoding	Benign
5	13721041	C	A	C13721041A	DNAH5	NM_001369.3(DNAH5):c.12238G>T:p.Glu4080Ter	coding	Pathogenic
5	13727241	A	T	A13727241T	DNAH5	NM_001369.3(DNAH5):c.12033+266T>A	noncoding	Benign
5	13727531	C	T	C13727531T	DNAH5	NM_001369.3(DNAH5):c.12009G>A:p.Trp4003Ter	coding	Pathogenic
5	13727586	T	C	T13727586C	DNAH5	NM_001369.3(DNAH5):c.11954A>G:p.Asn3985Ser	coding	Benign
5	13727893	A	G	A13727893G	DNAH5	NM_001369.3(DNAH5):c.11884-237T>C	noncoding	Benign
5	13735038	C	A	C13735038A	DNAH5	NM_001369.3(DNAH5):c.11761+93G>T	noncoding	Benign
5	13735322	C	T	C13735322T	DNAH5	NM_001369.3(DNAH5):c.11571-1G>A	coding	Pathogenic
5	13735829	A	G	A13735829G	DNAH5	NM_001369.3(DNAH5):c.11559T>C:p.Leu3853=	coding	Benign
5	13736944	A	G	A13736944G	DNAH5	NM_001369.3(DNAH5):c.11455+308T>C	noncoding	Benign
5	13736949	C	A	C13736949A	DNAH5	NM_001369.3(DNAH5):c.11455+303G>T	noncoding	Benign
5	13737591	A	G	A13737591G	DNAH5	NM_001369.3(DNAH5):c.11212-96T>C	noncoding	Benign
5	13750789	A	G	A13750789G	DNAH5	NM_001369.3(DNAH5):c.11211+289T>C	noncoding	Benign
5	13750822	G	A	G13750822A	DNAH5	NM_001369.3(DNAH5):c.11211+256C>T	noncoding	Benign
5	13750866	T	C	T13750866C	DNAH5	NM_001369.3(DNAH5):c.11211+212A>G	noncoding	Benign
5	13753059	T	A	T13753059A	DNAH5	NM_001369.3(DNAH5):c.10872+174A>T	noncoding	Benign
5	13753082	A	G	A13753082G	DNAH5	NM_001369.3(DNAH5):c.10872+151T>C	noncoding	Benign
5	13753280	G	A	G13753280A	DNAH5	NM_001369.3(DNAH5):c.10825C>T:p.Gln3609Ter	coding	Pathogenic
5	13753490	G	A	G13753490A	DNAH5	NM_001369.3(DNAH5):c.10615C>T:p.Arg3539Cys	coding	Pathogenic/Likely_pathogenic
5	13753875	A	T	A13753875T	DNAH5	NM_001369.3(DNAH5):c.10556-326T>A	noncoding	Benign
5	13754236	G	A	G13754236A	DNAH5	NM_001369.3(DNAH5):c.10522C>T:p.Gln3508Ter	coding	Pathogenic
5	13754250	C	T	C13754250T	DNAH5	NM_001369.3(DNAH5):c.10508G>A:p.Trp3503Ter	coding	Pathogenic
5	13758917	C	A	C13758917A	DNAH5	NM_001369.3(DNAH5):c.10348G>T:p.Glu3450Ter	coding	Pathogenic
5	13762604	T	C	T13762604C	DNAH5	NM_001369.3(DNAH5):c.10281+118A>G	noncoding	Benign
5	13766026	G	A	G13766026A	DNAH5	NM_001369.3(DNAH5):c.10051C>T:p.Gln3351Ter	coding	Pathogenic
5	13766102	G	T	G13766102T	DNAH5	NM_001369.3(DNAH5):c.9975C>A:p.Cys3325Ter	coding	Pathogenic
5	13766475	C	A	C13766475A	DNAH5	NM_001369.3(DNAH5):c.9898-296G>T	noncoding	Benign
5	13768980	C	A	C13768980A	DNAH5	NM_001369.3(DNAH5):c.9877G>T:p.Glu3293Ter	coding	Pathogenic
5	13769058	G	A	G13769058A	DNAH5	NM_001369.3(DNAH5):c.9799C>T:p.Gln3267Ter	coding	Pathogenic
5	13769199	A	T	A13769199T	DNAH5	NM_001369.3(DNAH5):c.9721-63T>A	noncoding	Benign
5	13769496	C	T	C13769496T	DNAH5	NM_001369.3(DNAH5):c.9720+5G>A	noncoding	Pathogenic
5	13769539	C	A	C13769539A	DNAH5	NM_001369.3(DNAH5):c.9682G>T:p.Glu3228Ter	coding	Pathogenic
5	13769542	T	A	T13769542A	DNAH5	NM_001369.3(DNAH5):c.9679A>T:p.Lys3227Ter	coding	Pathogenic
5	13769633	A	G	A13769633G	DNAH5	NM_001369.3(DNAH5):c.9606-18T>C	noncoding	Benign
5	13769850	A	T	A13769850T	DNAH5	NM_001369.3(DNAH5):c.9606-235T>A	noncoding	Benign
5	13769865	C	T	C13769865T	DNAH5	NM_001369.3(DNAH5):c.9606-250G>A	noncoding	Benign
5	13769891	C	T	C13769891T	DNAH5	NM_001369.3(DNAH5):c.9606-276G>A	noncoding	Benign
5	13770927	T	A	T13770927A	DNAH5	NM_001369.3(DNAH5):c.9427A>T:p.Lys3143Ter	coding	Pathogenic
5	13770955	A	T	A13770955T	DNAH5	NM_001369.3(DNAH5):c.9399T>A:p.Tyr3133Ter	coding	Pathogenic
5	13770975	C	A	C13770975A	DNAH5	NM_001369.3(DNAH5):c.9379G>T:p.Glu3127Ter	coding	Pathogenic
5	13770982	T	A	T13770982A	DNAH5	NM_001369.3(DNAH5):c.9374-2A>T	noncoding	Pathogenic
5	13771140	A	G	A13771140G	DNAH5	NM_001369.3(DNAH5):c.9374-160T>C	noncoding	Benign
5	13771222	T	C	T13771222C	DNAH5	NM_001369.3(DNAH5):c.9374-242A>G	noncoding	Benign
5	13771258	G	T	G13771258T	DNAH5	NM_001369.3(DNAH5):c.9374-278C>A	noncoding	Benign
5	13776151	G	C	G13776151C	DNAH5	NM_001369.3(DNAH5):c.9373+288C>G	noncoding	Benign
5	13776378	C	T	C13776378T	DNAH5	NM_001369.3(DNAH5):c.9373+61G>A	noncoding	Benign
5	13776447	A	T	A13776447T	DNAH5	NM_001369.3(DNAH5):c.9365T>A:p.Leu3122Ter	coding	Pathogenic
5	13776532	T	A	T13776532A	DNAH5	NM_001369.3(DNAH5):c.9280A>T:p.Lys3094Ter	coding	Pathogenic
5	13776862	A	C	A13776862C	DNAH5	NM_001369.3(DNAH5):c.9106-156T>G	noncoding	Benign
5	13777043	C	T	C13777043T	DNAH5	NM_001369.3(DNAH5):c.9105+159G>A	noncoding	Benign
5	13777289	G	A	G13777289A	DNAH5	NM_001369.3(DNAH5):c.9018C>T:p.Gly3006=	coding	Pathogenic
5	13780960	C	A	C13780960A	DNAH5	NM_001369.3(DNAH5):c.8821-1G>T	coding	Pathogenic
5	13780960	C	T	C13780960T	DNAH5	NM_001369.3(DNAH5):c.8821-1G>A	coding	Pathogenic
5	13786248	A	C	A13786248C	DNAH5	NM_001369.3(DNAH5):c.8751T>G:p.Tyr2917Ter	coding	Pathogenic
5	13788788	T	C	T13788788C	DNAH5	NM_001369.3(DNAH5):c.8575A>G:p.Lys2859Glu	coding	Benign
5	13789193	G	A	G13789193A	DNAH5	NM_001369.3(DNAH5):c.8449-279C>T	noncoding	Benign
5	13792192	A	T	A13792192T	DNAH5	NM_001369.3(DNAH5):c.8250T>A:p.Cys2750Ter	coding	Pathogenic
5	13792234	T	C	T13792234C	DNAH5	NM_001369.3(DNAH5):c.8225-17A>G	noncoding	Benign
5	13793707	G	A	G13793707A	DNAH5	NM_001369.3(DNAH5):c.8032C>T:p.Gln2678Ter	coding	Pathogenic
5	13793946	C	T	C13793946T	DNAH5	NM_001369.3(DNAH5):c.8000G>A:p.Trp2667Ter	coding	Pathogenic
5	13794078	T	A	T13794078A	DNAH5	NM_001369.3(DNAH5):c.7888-20A>T	noncoding	Benign
5	13807657	A	C	A13807657C	DNAH5	NM_001369.3(DNAH5):c.7821T>G:p.Tyr2607Ter	coding	Pathogenic
5	13807704	G	A	G13807704A	DNAH5	NM_001369.3(DNAH5):c.7774C>T:p.Gln2592Ter	coding	Pathogenic
5	13809180	C	T	C13809180T	DNAH5	NM_001369.3(DNAH5):c.7616G>A:p.Trp2539Ter	coding	Pathogenic
5	13809848	G	T	G13809848T	DNAH5	NM_001369.3(DNAH5):c.7609+211C>A	noncoding	Benign
5	13810332	G	A	G13810332A	DNAH5	NM_001369.3(DNAH5):c.7408-72C>T	noncoding	Benign
5	13810420	C	G	C13810420G	DNAH5	NM_001369.3(DNAH5):c.7408-160G>C	noncoding	Benign
5	13811381	C	T	C13811381T	DNAH5	NM_001369.3(DNAH5):c.7407+266G>A	noncoding	Benign
5	13811646	C	T	C13811646T	DNAH5	NM_001369.3(DNAH5):c.7407+1G>A	noncoding	Pathogenic/Likely_pathogenic
5	13811685	G	A	G13811685A	DNAH5	NM_001369.3(DNAH5):c.7369C>T:p.Gln2457Ter	coding	Pathogenic
5	13811766	C	A	C13811766A	DNAH5	NM_001369.3(DNAH5):c.7288G>T:p.Glu2430Ter	coding	Pathogenic
5	13814341	C	G	C13814341G	DNAH5	NM_001369.3(DNAH5):c.7230+264G>C	noncoding	Benign
5	13814940	A	C	A13814940C	DNAH5	NM_001369.3(DNAH5):c.6989-94T>G	noncoding	Benign
5	13814941	G	T	G13814941T	DNAH5	NM_001369.3(DNAH5):c.6989-95C>A	noncoding	Benign
5	13815179	T	C	T13815179C	DNAH5	NM_001369.3(DNAH5):c.6989-333A>G	noncoding	Benign
5	13817262	T	C	T13817262C	DNAH5	NM_001369.3(DNAH5):c.6988+286A>G	noncoding	Benign
5	13817574	C	T	C13817574T	DNAH5	NM_001369.3(DNAH5):c.6962G>A:p.Trp2321Ter	coding	Pathogenic
5	13817638	G	A	G13817638A	DNAH5	NM_001369.3(DNAH5):c.6898C>T:p.Gln2300Ter	coding	Pathogenic
5	13817772	G	A	G13817772A	DNAH5	NM_001369.3(DNAH5):c.6842-78C>T	noncoding	Benign
5	13817875	T	C	T13817875C	DNAH5	NM_001369.3(DNAH5):c.6842-181A>G	noncoding	Benign
5	13820430	T	A	T13820430A	DNAH5	NM_001369.3(DNAH5):c.6757A>T:p.Arg2253Ter	coding	Pathogenic
5	13820448	G	A	G13820448A	DNAH5	NM_001369.3(DNAH5):c.6739C>T:p.Gln2247Ter	coding	Pathogenic
5	13823153	T	C	T13823153C	DNAH5	NM_001369.3(DNAH5):c.6687+110A>G	noncoding	Benign
5	13823479	T	A	T13823479A	DNAH5	NM_001369.3(DNAH5):c.6580-109A>T	noncoding	Benign
5	13823971	A	T	A13823971T	DNAH5	NM_001369.3(DNAH5):c.6579+228T>A	noncoding	Benign
5	13824249	C	G	C13824249G	DNAH5	NM_001369.3(DNAH5):c.6529G>C:p.Glu2177Gln	coding	Benign/Likely_benign
5	13824325	A	T	A13824325T	DNAH5	NM_001369.3(DNAH5):c.6453T>A:p.Tyr2151Ter	coding	Pathogenic
5	13824353	T	C	T13824353C	DNAH5	NM_001369.3(DNAH5):c.6445-20A>G	noncoding	Benign/Likely_benign
5	13829509	C	T	C13829509T	DNAH5	NM_001369.3(DNAH5):c.6444+1G>A	noncoding	Pathogenic
5	13829512	G	A	G13829512A	DNAH5	NM_001369.3(DNAH5):c.6442C>T:p.Gln2148Ter	coding	Pathogenic
5	13829527	C	A	C13829527A	DNAH5	NM_001369.3(DNAH5):c.6427G>T:p.Glu2143Ter	coding	Pathogenic/Likely_pathogenic
5	13829646	G	T	G13829646T	DNAH5	NM_001369.3(DNAH5):c.6308C>A:p.Ser2103Ter	coding	Pathogenic/Likely_pathogenic
5	13829824	G	A	G13829824A	DNAH5	NM_001369.3(DNAH5):c.6250-120C>T	noncoding	Benign
5	13829939	G	A	G13829939A	DNAH5	NM_001369.3(DNAH5):c.6249+87C>T	noncoding	Benign
5	13830714	C	T	C13830714T	DNAH5	NM_001369.3(DNAH5):c.5944G>A:p.Ala1982Thr	coding	Benign/Likely_benign
5	13830732	C	A	C13830732A	DNAH5	NM_001369.3(DNAH5):c.5926G>T:p.Gly1976Ter	coding	Pathogenic
5	13830756	G	A	G13830756A	DNAH5	NM_001369.3(DNAH5):c.5902C>T:p.Gln1968Ter	coding	Pathogenic
5	13830776	C	G	C13830776G	DNAH5	NM_001369.3(DNAH5):c.5883-1G>C	coding	Pathogenic
5	13830776	C	T	C13830776T	DNAH5	NM_001369.3(DNAH5):c.5883-1G>A	coding	Pathogenic/Likely_pathogenic
5	13830777	T	G	T13830777G	DNAH5	NM_001369.3(DNAH5):c.5883-2A>C	noncoding	Pathogenic
5	13839058	G	A	G13839058A	DNAH5	NM_001369.3(DNAH5):c.5882+298C>T	noncoding	Benign
5	13839411	G	A	G13839411A	DNAH5	NM_001369.3(DNAH5):c.5827C>T:p.Gln1943Ter	coding	Pathogenic
5	13839469	G	C	G13839469C	DNAH5	NM_001369.3(DNAH5):c.5769C>G:p.Tyr1923Ter	coding	Pathogenic
5	13839586	C	T	C13839586T	DNAH5	NM_001369.3(DNAH5):c.5710-58G>A	noncoding	Benign
5	13841350	T	G	T13841350G	DNAH5	NM_001369.3(DNAH5):c.5485-220A>C	noncoding	Benign
5	13841672	T	G	T13841672G	DNAH5	NM_001369.3(DNAH5):c.5484+20A>C	noncoding	Benign
5	13841787	G	A	G13841787A	DNAH5	NM_001369.3(DNAH5):c.5389C>T:p.Gln1797Ter	coding	Pathogenic
5	13841895	G	C	G13841895C	DNAH5	NM_001369.3(DNAH5):c.5281C>G:p.Arg1761Gly	coding	Benign/Likely_benign
5	13842102	A	G	A13842102G	DNAH5	NM_001369.3(DNAH5):c.5272-198T>C	noncoding	Benign
5	13844605	C	A	C13844605A	DNAH5	NM_001369.3(DNAH5):c.5271+232G>T	noncoding	Benign
5	13844765	G	A	G13844765A	DNAH5	NM_001369.3(DNAH5):c.5271+72C>T	noncoding	Benign/Likely_benign
5	13844986	C	A	C13844986A	DNAH5	NM_001369.3(DNAH5):c.5122G>T:p.Glu1708Ter	coding	Pathogenic
5	13845224	C	G	C13845224G	DNAH5	NM_001369.3(DNAH5):c.5115-231G>C	noncoding	Benign
5	13850427	C	T	C13850427T	DNAH5	NM_001369.3(DNAH5):c.5114+225G>A	noncoding	Benign
5	13850432	A	G	A13850432G	DNAH5	NM_001369.3(DNAH5):c.5114+220T>C	noncoding	Benign
5	13850542	T	C	T13850542C	DNAH5	NM_001369.3(DNAH5):c.5114+110A>G	noncoding	Benign
5	13850907	C	T	C13850907T	DNAH5	NM_001369.3(DNAH5):c.4951-92G>A	noncoding	Benign
5	13850938	T	C	T13850938C	DNAH5	NM_001369.3(DNAH5):c.4951-123A>G	noncoding	Benign
5	13851041	T	C	T13851041C	DNAH5	NM_001369.3(DNAH5):c.4951-226A>G	noncoding	Benign
5	13851128	C	T	C13851128T	DNAH5	NM_001369.3(DNAH5):c.4951-313G>A	noncoding	Benign
5	13851129	A	G	A13851129G	DNAH5	NM_001369.3(DNAH5):c.4951-314T>C	noncoding	Benign
5	13859170	A	T	A13859170T	DNAH5	NM_001369.3(DNAH5):c.4950+282T>A	noncoding	Benign
5	13859215	C	A	C13859215A	DNAH5	NM_001369.3(DNAH5):c.4950+237G>T	noncoding	Benign
5	13859247	A	G	A13859247G	DNAH5	NM_001369.3(DNAH5):c.4950+205T>C	noncoding	Benign
5	13859315	G	A	G13859315A	DNAH5	NM_001369.3(DNAH5):c.4950+137C>T	noncoding	Benign
5	13859339	T	C	T13859339C	DNAH5	NM_001369.3(DNAH5):c.4950+113A>G	noncoding	Benign
5	13859663	A	C	A13859663C	DNAH5	NM_001369.3(DNAH5):c.4797-58T>G	noncoding	Benign
5	13859698	G	T	G13859698T	DNAH5	NM_001369.3(DNAH5):c.4797-93C>A	noncoding	Benign
5	13859911	C	T	C13859911T	DNAH5	NM_001369.3(DNAH5):c.4797-306G>A	noncoding	Benign
5	13862284	T	G	T13862284G	DNAH5	NM_001369.3(DNAH5):c.4796+264A>C	noncoding	Benign
5	13862491	T	G	T13862491G	DNAH5	NM_001369.3(DNAH5):c.4796+57A>C	noncoding	Benign
5	13862708	G	A	G13862708A	DNAH5	NM_001369.3(DNAH5):c.4636C>T:p.Gln1546Ter	coding	Pathogenic
5	13862853	A	T	A13862853T	DNAH5	NM_001369.3(DNAH5):c.4597-106T>A	noncoding	Benign
5	13864080	A	G	A13864080G	DNAH5	NM_001369.3(DNAH5):c.4596+317T>C	noncoding	Benign
5	13864198	A	G	A13864198G	DNAH5	NM_001369.3(DNAH5):c.4596+199T>C	noncoding	Benign
5	13864396	C	A	C13864396A	DNAH5	NM_001369.3(DNAH5):c.4596+1G>T	noncoding	Pathogenic
5	13864702	G	A	G13864702A	DNAH5	NM_001369.3(DNAH5):c.4356-65C>T	noncoding	Benign
5	13864776	G	A	G13864776A	DNAH5	NM_001369.3(DNAH5):c.4356-139C>T	noncoding	Benign
5	13865375	G	A	G13865375A	DNAH5	NM_001369.3(DNAH5):c.4355+293C>T	noncoding	Benign
5	13865382	A	C	A13865382C	DNAH5	NM_001369.3(DNAH5):c.4355+286T>G	noncoding	Benign
5	13865608	A	G	A13865608G	DNAH5	NM_001369.3(DNAH5):c.4355+60T>C	noncoding	Benign
5	13865753	C	A	C13865753A	DNAH5	NM_001369.3(DNAH5):c.4270G>T:p.Glu1424Ter	coding	Pathogenic
5	13865766	G	T	G13865766T	DNAH5	NM_001369.3(DNAH5):c.4257C>A:p.Tyr1419Ter	coding	Pathogenic
5	13865786	G	A	G13865786A	DNAH5	NM_001369.3(DNAH5):c.4237C>T:p.Gln1413Ter	coding	Pathogenic
5	13865822	G	A	G13865822A	DNAH5	NM_001369.3(DNAH5):c.4201C>T:p.Gln1401Ter	coding	Pathogenic
5	13866029	G	C	G13866029C	DNAH5	NM_001369.3(DNAH5):c.4117-123C>G	noncoding	Benign
5	13866252	G	A	G13866252A	DNAH5	NM_001369.3(DNAH5):c.4084C>T:p.Gln1362Ter	coding	Pathogenic
5	13866258	T	A	T13866258A	DNAH5	NM_001369.3(DNAH5):c.4078A>T:p.Lys1360Ter	coding	Pathogenic
5	13866341	A	G	A13866341G	DNAH5	NM_001369.3(DNAH5):c.4054-59T>C	noncoding	Benign
5	13866548	G	C	G13866548C	DNAH5	NM_001369.3(DNAH5):c.4054-266C>G	noncoding	Benign
5	13867710	C	T	C13867710T	DNAH5	NM_001369.3(DNAH5):c.4053+64G>A	noncoding	Benign
5	13867773	C	T	C13867773T	DNAH5	NM_001369.3(DNAH5):c.4053+1G>A	noncoding	Pathogenic/Likely_pathogenic
5	13868275	T	G	T13868275G	DNAH5	NM_001369.3(DNAH5):c.3835-283A>C	noncoding	Benign
5	13870473	A	G	A13870473G	DNAH5	NM_001369.3(DNAH5):c.3834+294T>C	noncoding	Benign
5	13870508	G	A	G13870508A	DNAH5	NM_001369.3(DNAH5):c.3834+259C>T	noncoding	Benign
5	13870926	G	C	G13870926C	DNAH5	NM_001369.3(DNAH5):c.3675C>G:p.Tyr1225Ter	coding	Pathogenic
5	13871205	C	T	C13871205T	DNAH5	NM_001369.3(DNAH5):c.3599-203G>A	noncoding	Benign
5	13871221	T	C	T13871221C	DNAH5	NM_001369.3(DNAH5):c.3599-219A>G	noncoding	Benign
5	13871438	T	C	T13871438C	DNAH5	NM_001369.3(DNAH5):c.3598+126A>G	noncoding	Benign
5	13871563	C	T	C13871563T	DNAH5	NM_001369.3(DNAH5):c.3598+1G>A	noncoding	Pathogenic
5	13871633	G	A	G13871633A	DNAH5	NM_001369.3(DNAH5):c.3529C>T:p.Gln1177Ter	coding	Pathogenic
5	13871705	C	A	C13871705A	DNAH5	NM_001369.3(DNAH5):c.3457G>T:p.Glu1153Ter	coding	Pathogenic
5	13871719	C	T	C13871719T	DNAH5	NM_001369.3(DNAH5):c.3443G>A:p.Trp1148Ter	coding	Pathogenic
5	13871816	A	G	A13871816G	DNAH5	NM_001369.3(DNAH5):c.3397-51T>C	noncoding	Benign
5	13871985	T	C	T13871985C	DNAH5	NM_001369.3(DNAH5):c.3397-220A>G	noncoding	Benign
5	13872048	C	G	C13872048G	DNAH5	NM_001369.3(DNAH5):c.3397-283G>C	noncoding	Benign
5	13876496	T	C	T13876496C	DNAH5	NM_001369.3(DNAH5):c.3396+188A>G	noncoding	Benign
5	13876555	T	C	T13876555C	DNAH5	NM_001369.3(DNAH5):c.3396+129A>G	noncoding	Benign
5	13876876	G	C	G13876876C	DNAH5	NM_001369.3(DNAH5):c.3263-59C>G	noncoding	Benign
5	13882709	A	G	A13882709G	DNAH5	NM_001369.3(DNAH5):c.3262+19T>C	noncoding	Benign
5	13882806	G	A	G13882806A	DNAH5	NM_001369.3(DNAH5):c.3184C>T:p.Gln1062Ter	coding	Pathogenic
5	13883153	C	G	C13883153G	DNAH5	NM_001369.3(DNAH5):c.2984-59G>C	noncoding	Benign
5	13884851	A	T	A13884851T	DNAH5	NM_001369.3(DNAH5):c.2983+138T>A	noncoding	Benign
5	13885220	C	A	C13885220A	DNAH5	NM_001369.3(DNAH5):c.2752G>T:p.Glu918Ter	coding	Pathogenic
5	13885270	T	C	T13885270C	DNAH5	NM_001369.3(DNAH5):c.2744-42A>G	noncoding	Benign
5	13885504	G	C	G13885504C	DNAH5	NM_001369.3(DNAH5):c.2744-276C>G	noncoding	Benign
5	13886047	A	T	A13886047T	DNAH5	NM_001369.3(DNAH5):c.2660T>A:p.Leu887Ter	coding	Pathogenic
5	13886108	G	A	G13886108A	DNAH5	NM_001369.3(DNAH5):c.2599C>T:p.Gln867Ter	coding	Pathogenic
5	13886138	A	C	A13886138C	DNAH5	NM_001369.3(DNAH5):c.2578-9T>G	noncoding	Benign
5	13886204	G	A	G13886204A	DNAH5	NM_001369.3(DNAH5):c.2578-75C>T	noncoding	Benign
5	13890738	G	A	G13890738A	DNAH5	NM_001369.3(DNAH5):c.2577+238C>T	noncoding	Benign
5	13894414	T	C	T13894414C	DNAH5	NM_001369.3(DNAH5):c.2431+236A>G	noncoding	Benign
5	13894518	C	T	C13894518T	DNAH5	NM_001369.3(DNAH5):c.2431+132G>A	noncoding	Benign
5	13894871	T	A	T13894871A	DNAH5	NM_001369.3(DNAH5):c.2260-50A>T	noncoding	Benign
5	13894885	A	G	A13894885G	DNAH5	NM_001369.3(DNAH5):c.2260-64T>C	noncoding	Benign
5	13900352	C	A	C13900352A	DNAH5	NM_001369.3(DNAH5):c.2113G>T:p.Glu705Ter	coding	Pathogenic
5	13900625	A	G	A13900625G	DNAH5	NM_001369.3(DNAH5):c.2053-213T>C	noncoding	Benign
5	13900644	C	G	C13900644G	DNAH5	NM_001369.3(DNAH5):c.2053-232G>C	noncoding	Benign
5	13900646	A	G	A13900646G	DNAH5	NM_001369.3(DNAH5):c.2053-234T>C	noncoding	Benign
5	13901235	T	C	T13901235C	DNAH5	NM_001369.3(DNAH5):c.2052+17A>G	noncoding	Benign
5	13901371	G	A	G13901371A	DNAH5	NM_001369.3(DNAH5):c.1933C>T:p.Gln645Ter	coding	Pathogenic
5	13902334	T	C	T13902334C	DNAH5	NM_001369.3(DNAH5):c.1645-196A>G	noncoding	Benign
5	13910942	G	A	G13910942A	DNAH5	NM_001369.3(DNAH5):c.1644+444C>T	noncoding	Benign
5	13911089	C	A	C13911089A	DNAH5	NM_001369.3(DNAH5):c.1644+297G>T	noncoding	Benign
5	13911296	G	T	G13911296T	DNAH5	NM_001369.3(DNAH5):c.1644+90C>A	noncoding	Benign
5	13911305	T	A	T13911305A	DNAH5	NM_001369.3(DNAH5):c.1644+81A>T	noncoding	Benign
5	13911403	G	A	G13911403A	DNAH5	NM_001369.3(DNAH5):c.1627C>T:p.Gln543Ter	coding	Pathogenic
5	13911461	G	C	G13911461C	DNAH5	NM_001369.3(DNAH5):c.1569C>G:p.Tyr523Ter	coding	Pathogenic
5	13911595	A	T	A13911595T	DNAH5	NM_001369.3(DNAH5):c.1537-102T>A	noncoding	Benign/Likely_benign
5	13911723	T	C	T13911723C	DNAH5	NM_001369.3(DNAH5):c.1537-230A>G	noncoding	Benign
5	13911799	A	T	A13911799T	DNAH5	NM_001369.3(DNAH5):c.1537-306T>A	noncoding	Benign
5	13913458	A	T	A13913458T	DNAH5	NM_001369.3(DNAH5):c.1536+285T>A	noncoding	Benign
5	13913497	T	C	T13913497C	DNAH5	NM_001369.3(DNAH5):c.1536+246A>G	noncoding	Benign
5	13913745	G	A	G13913745A	DNAH5	NM_001369.3(DNAH5):c.1534C>T:p.Gln512Ter	coding	Pathogenic
5	13913937	T	A	T13913937A	DNAH5	NM_001369.3(DNAH5):c.1342A>T:p.Lys448Ter	coding	Pathogenic
5	13913953	G	C	G13913953C	DNAH5	NM_001369.3(DNAH5):c.1326C>G:p.Tyr442Ter	coding	Pathogenic
5	13914011	T	C	T13914011C	DNAH5	NM_001369.3(DNAH5):c.1321-53A>G	noncoding	Benign
5	13914077	C	T	C13914077T	DNAH5	NM_001369.3(DNAH5):c.1321-119G>A	noncoding	Benign
5	13914084	T	A	T13914084A	DNAH5	NM_001369.3(DNAH5):c.1321-126A>T	noncoding	Benign
5	13914251	A	T	A13914251T	DNAH5	NM_001369.3(DNAH5):c.1320+269T>A	noncoding	Benign
5	13914447	A	G	A13914447G	DNAH5	NM_001369.3(DNAH5):c.1320+73T>C	noncoding	Benign
5	13914710	G	A	G13914710A	DNAH5	NM_001369.3(DNAH5):c.1198-68C>T	noncoding	Benign
5	13914723	C	T	C13914723T	DNAH5	NM_001369.3(DNAH5):c.1198-81G>A	noncoding	Benign
5	13914860	C	T	C13914860T	DNAH5	NM_001369.3(DNAH5):c.1198-218G>A	noncoding	Benign
5	13914863	C	T	C13914863T	DNAH5	NM_001369.3(DNAH5):c.1198-221G>A	noncoding	Benign
5	13914876	C	G	C13914876G	DNAH5	NM_001369.3(DNAH5):c.1198-234G>C	noncoding	Benign
5	13914962	T	C	T13914962C	DNAH5	NM_001369.3(DNAH5):c.1198-320A>G	noncoding	Benign
5	13916173	C	G	C13916173G	DNAH5	NM_001369.3(DNAH5):c.1197+175G>C	noncoding	Benign
5	13916193	C	A	C13916193A	DNAH5	NM_001369.3(DNAH5):c.1197+155G>T	noncoding	Benign
5	13916630	C	T	C13916630T	DNAH5	NM_001369.3(DNAH5):c.1090-175G>A	noncoding	Benign
5	13916747	T	C	T13916747C	DNAH5	NM_001369.3(DNAH5):c.1090-292A>G	noncoding	Benign
5	13916804	T	C	T13916804C	DNAH5	NM_001369.3(DNAH5):c.1089+339A>G	noncoding	Benign
5	13916908	A	G	A13916908G	DNAH5	NM_001369.3(DNAH5):c.1089+235T>C	noncoding	Benign
5	13917002	A	G	A13917002G	DNAH5	NM_001369.3(DNAH5):c.1089+141T>C	noncoding	Benign
5	13917247	C	A	C13917247A	DNAH5	NM_001369.3(DNAH5):c.985G>T:p.Glu329Ter	coding	Pathogenic
5	13917252	C	T	C13917252T	DNAH5	NM_001369.3(DNAH5):c.980G>A:p.Trp327Ter	coding	Pathogenic
5	13918974	C	T	C13918974T	DNAH5	NM_001369.3(DNAH5):c.975+202G>A	noncoding	Benign
5	13919301	G	A	G13919301A	DNAH5	NM_001369.3(DNAH5):c.850C>T:p.Arg284Ter	coding	Pathogenic
5	13919363	G	A	G13919363A	DNAH5	NM_001369.3(DNAH5):c.799-11C>T	noncoding	Benign/Likely_benign
5	13919443	T	A	T13919443A	DNAH5	NM_001369.3(DNAH5):c.799-91A>T	noncoding	Benign
5	13919469	G	A	G13919469A	DNAH5	NM_001369.3(DNAH5):c.799-117C>T	noncoding	Benign
5	13919630	A	G	A13919630G	DNAH5	NM_001369.3(DNAH5):c.799-278T>C	noncoding	Benign
5	13920253	G	A	G13920253A	DNAH5	NM_001369.3(DNAH5):c.798+227C>T	noncoding	Benign
5	13920510	G	T	G13920510T	DNAH5	NM_001369.3(DNAH5):c.768C>A:p.Cys256Ter	coding	Pathogenic
5	13920710	G	A	G13920710A	DNAH5	NM_001369.3(DNAH5):c.661-93C>T	noncoding	Benign
5	13920789	T	C	T13920789C	DNAH5	NM_001369.3(DNAH5):c.661-172A>G	noncoding	Benign
5	13922261	G	T	G13922261T	DNAH5	NM_001369.3(DNAH5):c.506C>A:p.Ser169Ter	coding	Pathogenic
5	13923012	A	T	A13923012T	DNAH5	NM_001369.3(DNAH5):c.438+268T>A	noncoding	Benign
5	13927836	T	C	T13927836C	DNAH5	NM_001369.3(DNAH5):c.277+258A>G	noncoding	Benign
5	13927976	T	C	T13927976C	DNAH5	NM_001369.3(DNAH5):c.277+118A>G	noncoding	Benign
5	13928139	G	A	G13928139A	DNAH5	NM_001369.3(DNAH5):c.232C>T:p.Arg78Ter	coding	Pathogenic
5	13928284	T	C	T13928284C	DNAH5	NM_001369.3(DNAH5):c.193-106A>G	noncoding	Benign
5	13931352	T	A	T13931352A	DNAH5	NM_001369.3(DNAH5):c.58-108A>T	noncoding	Benign
5	13931546	T	G	T13931546G	DNAH5	NM_001369.3(DNAH5):c.58-302A>C	noncoding	Benign
5	13944234	C	T	C13944234T	DNAH5	NM_001369.3(DNAH5):c.57+148G>A	noncoding	Benign
5	13944566	A	G	A13944566G	DNAH5	NM_001369.3(DNAH5):c.-128T>C	noncoding	Benign
5	13944647	T	C	T13944647C	DNAH5	NM_001369.3(DNAH5):c.-209A>G	noncoding	Benign
5	14143769	C	T	C14143769T	TRIO	NM_007118.4(TRIO):c.44C>T:p.Ser15Phe	coding	Benign
5	14143792	G	A	G14143792A	TRIO	NM_007118.4(TRIO):c.67G>A:p.Ala23Thr	coding	Benign/Likely_benign
5	14143802	C	A	C14143802A	TRIO	NM_007118.4(TRIO):c.77C>A:p.Ser26Ter	coding	Pathogenic
5	14270869	A	G	A14270869G	TRIO	NM_007118.4(TRIO):c.202A>G:p.Ile68Val	coding	Benign
5	14270927	A	C	A14270927C	TRIO	NM_007118.4(TRIO):c.232+28A>C	noncoding	Benign
5	14270932	A	G	A14270932G	TRIO	NM_007118.4(TRIO):c.232+33A>G	noncoding	Benign
5	14270946	A	G	A14270946G	TRIO	NM_007118.4(TRIO):c.232+47A>G	noncoding	Benign
5	14271022	T	C	T14271022C	TRIO	NM_007118.4(TRIO):c.232+123T>C	noncoding	Benign
5	14280030	T	G	T14280030G	TRIO	NM_007118.4(TRIO):c.233-292T>G	noncoding	Benign
5	14280175	C	T	C14280175T	TRIO	NM_007118.4(TRIO):c.233-147C>T	noncoding	Benign
5	14280276	C	A	C14280276A	TRIO	NM_007118.4(TRIO):c.233-46C>A	noncoding	Benign
5	14287075	C	T	C14287075T	TRIO	NM_007118.4(TRIO):c.540+12C>T	noncoding	Benign
5	14290479	G	A	G14290479A	TRIO	NM_007118.4(TRIO):c.541-237G>A	noncoding	Benign
5	14290580	G	A	G14290580A	TRIO	NM_007118.4(TRIO):c.541-136G>A	noncoding	Benign
5	14290696	G	A	G14290696A	TRIO	NM_007118.4(TRIO):c.541-20G>A	noncoding	Benign
5	14291013	C	T	C14291013T	TRIO	NM_007118.4(TRIO):c.838C>T:p.Gln280Ter	coding	Pathogenic
5	14291135	G	A	G14291135A	TRIO	NM_007118.4(TRIO):c.960G>A:p.Ser320=	coding	Benign/Likely_benign
5	14291150	G	A	G14291150A	TRIO	NM_007118.4(TRIO):c.975G>A:p.Leu325=	coding	Benign
5	14291481	G	A	G14291481A	TRIO	NM_007118.4(TRIO):c.1053+253G>A	noncoding	Benign
5	14291505	T	C	T14291505C	TRIO	NM_007118.4(TRIO):c.1053+277T>C	noncoding	Benign
5	14293236	G	A	G14293236A	TRIO	NM_007118.4(TRIO):c.1176+102G>A	noncoding	Benign
5	14297112	A	G	A14297112G	TRIO	NM_007118.4(TRIO):c.1217A>G:p.Asn406Ser	coding	Benign/Likely_benign
5	14316169	G	T	G14316169T	TRIO	NM_007118.4(TRIO):c.1501-344G>T	noncoding	Benign
5	14316271	T	C	T14316271C	TRIO	NM_007118.4(TRIO):c.1501-242T>C	noncoding	Benign
5	14316339	A	G	A14316339G	TRIO	NM_007118.4(TRIO):c.1501-174A>G	noncoding	Benign
5	14316533	G	A	G14316533A	TRIO	NM_007118.4(TRIO):c.1521G>A:p.Ser507=	coding	Benign
5	14316899	G	A	G14316899A	TRIO	NM_007118.4(TRIO):c.1731+156G>A	noncoding	Benign
5	14330831	T	C	T14330831C	TRIO	NM_007118.4(TRIO):c.1785T>C:p.Gly595=	coding	Benign
5	14357934	C	T	C14357934T	TRIO	NM_007118.4(TRIO):c.2047-244C>T	noncoding	Benign
5	14358155	C	T	C14358155T	TRIO	NM_007118.4(TRIO):c.2047-23C>T	noncoding	Benign
5	14358250	C	T	C14358250T	TRIO	NM_007118.4(TRIO):c.2119C>T:p.Gln707Ter	coding	Pathogenic
5	14359329	A	G	A14359329G	TRIO	NM_007118.4(TRIO):c.2217-28A>G	noncoding	Benign
5	14359553	C	G	C14359553G	TRIO	NM_007118.4(TRIO):c.2391+22C>G	noncoding	Benign
5	14359556	G	A	G14359556A	TRIO	NM_007118.4(TRIO):c.2391+25G>A	noncoding	Benign
5	14359557	C	T	C14359557T	TRIO	NM_007118.4(TRIO):c.2391+26C>T	noncoding	Benign
5	14363454	G	A	G14363454A	TRIO	NM_007118.4(TRIO):c.2392-278G>A	noncoding	Benign
5	14363721	C	T	C14363721T	TRIO	NM_007118.4(TRIO):c.2392-11C>T	noncoding	Benign
5	14364398	G	C	G14364398C	TRIO	NM_007118.4(TRIO):c.2588-252G>C	noncoding	Benign
5	14364638	T	A	T14364638A	TRIO	NM_007118.4(TRIO):c.2588-12T>A	noncoding	Benign/Likely_benign
5	14364951	T	C	T14364951C	TRIO	NM_007118.4(TRIO):c.2754+135T>C	noncoding	Benign
5	14366731	T	C	T14366731C	TRIO	NM_007118.4(TRIO):c.2755-129T>C	noncoding	Benign
5	14366821	G	A	G14366821A	TRIO	NM_007118.4(TRIO):c.2755-39G>A	noncoding	Benign
5	14366985	G	A	G14366985A	TRIO	NM_007118.4(TRIO):c.2874+6G>A	noncoding	Benign/Likely_benign
5	14368410	T	C	T14368410C	TRIO	NM_007118.4(TRIO):c.2875-298T>C	noncoding	Benign
5	14368454	A	G	A14368454G	TRIO	NM_007118.4(TRIO):c.2875-254A>G	noncoding	Benign
5	14368550	T	C	T14368550C	TRIO	NM_007118.4(TRIO):c.2875-158T>C	noncoding	Benign
5	14368866	C	T	C14368866T	TRIO	NM_007118.4(TRIO):c.3033C>T:p.Asn1011=	coding	Benign
5	14369534	C	T	C14369534T	TRIO	NM_007118.4(TRIO):c.3216+11C>T	noncoding	Benign
5	14369581	G	A	G14369581A	TRIO	NM_007118.4(TRIO):c.3216+58G>A	noncoding	Benign
5	14374156	G	C	G14374156C	TRIO	NM_007118.4(TRIO):c.3217-73G>C	noncoding	Benign
5	14374235	A	G	A14374235G	TRIO	NM_007118.4(TRIO):c.3223A>G:p.Thr1075Ala	coding	Pathogenic
5	14377810	C	T	C14377810T	TRIO	NM_007118.4(TRIO):c.3332-202C>T	noncoding	Benign
5	14377853	A	C	A14377853C	TRIO	NM_007118.4(TRIO):c.3332-159A>C	noncoding	Benign
5	14377897	T	A	T14377897A	TRIO	NM_007118.4(TRIO):c.3332-115T>A	noncoding	Benign
5	14377959	T	G	T14377959G	TRIO	NM_007118.4(TRIO):c.3332-53T>G	noncoding	Benign
5	14377979	C	T	C14377979T	TRIO	NM_007118.4(TRIO):c.3332-33C>T	noncoding	Benign
5	14378095	C	T	C14378095T	TRIO	NM_007118.4(TRIO):c.3415C>T:p.Gln1139Ter	coding	Pathogenic
5	14380924	T	A	T14380924A	TRIO	NM_007118.4(TRIO):c.3448-206T>A	noncoding	Benign
5	14381010	A	G	A14381010G	TRIO	NM_007118.4(TRIO):c.3448-120A>G	noncoding	Benign
5	14381065	C	T	C14381065T	TRIO	NM_007118.4(TRIO):c.3448-65C>T	noncoding	Benign
5	14381079	C	T	C14381079T	TRIO	NM_007118.4(TRIO):c.3448-51C>T	noncoding	Benign
5	14381291	C	T	C14381291T	TRIO	NM_007118.4(TRIO):c.3570+39C>T	noncoding	Benign
5	14381298	G	A	G14381298A	TRIO	NM_007118.4(TRIO):c.3570+46G>A	noncoding	Benign
5	14387380	G	C	G14387380C	TRIO	NM_007118.4(TRIO):c.3571-58G>C	noncoding	Benign
5	14387568	G	A	G14387568A	TRIO	NM_007118.4(TRIO):c.3701G>A:p.Arg1234Gln	coding	Benign
5	14387663	A	G	A14387663G	TRIO	NM_007118.4(TRIO):c.3765+31A>G	noncoding	Benign
5	14387679	C	T	C14387679T	TRIO	NM_007118.4(TRIO):c.3765+47C>T	noncoding	Benign
5	14387704	T	C	T14387704C	TRIO	NM_007118.4(TRIO):c.3766-28T>C	noncoding	Benign
5	14387711	A	G	A14387711G	TRIO	NM_007118.4(TRIO):c.3766-21A>G	noncoding	Benign
5	14388003	C	G	C14388003G	TRIO	NM_007118.4(TRIO):c.3881+156C>G	noncoding	Benign
5	14388072	T	A	T14388072A	TRIO	NM_007118.4(TRIO):c.3881+225T>A	noncoding	Benign
5	14388527	A	G	A14388527G	TRIO	NM_007118.4(TRIO):c.3882-86A>G	noncoding	Benign
5	14388575	A	C	A14388575C	TRIO	NM_007118.4(TRIO):c.3882-38A>C	noncoding	Benign
5	14388577	C	G	C14388577G	TRIO	NM_007118.4(TRIO):c.3882-36C>G	noncoding	Benign
5	14389142	G	A	G14389142A	TRIO	NM_007118.4(TRIO):c.3949-147G>A	noncoding	Benign
5	14389254	T	G	T14389254G	TRIO	NM_007118.4(TRIO):c.3949-35T>G	noncoding	Benign
5	14389360	C	T	C14389360T	TRIO	NM_007118.4(TRIO):c.4020C>T:p.Ile1340=	coding	Benign
5	14389436	A	G	A14389436G	TRIO	NM_007118.4(TRIO):c.4058+38A>G	noncoding	Benign
5	14389994	G	A	G14389994A	TRIO	NM_007118.4(TRIO):c.4059-237G>A	noncoding	Benign
5	14390198	T	C	T14390198C	TRIO	NM_007118.4(TRIO):c.4059-33T>C	noncoding	Benign
5	14390284	A	G	A14390284G	TRIO	NM_007118.4(TRIO):c.4112A>G:p.His1371Arg	coding	Pathogenic
5	14390468	G	A	G14390468A	TRIO	NM_007118.4(TRIO):c.4128+168G>A	noncoding	Benign
5	14390683	T	A	T14390683A	TRIO	NM_007118.4(TRIO):c.4129-218T>A	noncoding	Benign
5	14390698	C	T	C14390698T	TRIO	NM_007118.4(TRIO):c.4129-203C>T	noncoding	Benign
5	14390990	C	T	C14390990T	TRIO	NM_007118.4(TRIO):c.4218C>T:p.Asp1406=	coding	Benign/Likely_benign
5	14391271	G	T	G14391271T	TRIO	NM_007118.4(TRIO):c.4218+281G>T	noncoding	Benign
5	14394101	C	T	C14394101T	TRIO	NM_007118.4(TRIO):c.4282C>T:p.Arg1428Ter	coding	Pathogenic/Likely_pathogenic
5	14394134	T	G	T14394134G	TRIO	NM_007118.4(TRIO):c.4311+4T>G	noncoding	Benign
5	14394174	G	A	G14394174A	TRIO	NM_007118.4(TRIO):c.4311+44G>A	noncoding	Benign
5	14394180	T	C	T14394180C	TRIO	NM_007118.4(TRIO):c.4311+50T>C	noncoding	Benign
5	14396830	G	A	G14396830A	TRIO	NM_007118.4(TRIO):c.4312-213G>A	noncoding	Benign
5	14396907	A	G	A14396907G	TRIO	NM_007118.4(TRIO):c.4312-136A>G	noncoding	Benign
5	14397118	C	T	C14397118T	TRIO	NM_007118.4(TRIO):c.4387C>T:p.Arg1463Ter	coding	Pathogenic/Likely_pathogenic
5	14397125	A	G	A14397125G	TRIO	NM_007118.4(TRIO):c.4394A>G:p.Asn1465Ser	coding	Pathogenic/Likely_pathogenic
5	14397129	T	C	T14397129C	TRIO	NM_007118.4(TRIO):c.4398T>C:p.Asp1466=	coding	Benign
5	14400846	T	C	T14400846C	TRIO	NM_007118.4(TRIO):c.4615-117T>C	noncoding	Benign
5	14401107	A	T	A14401107T	TRIO	NM_007118.4(TRIO):c.4716+43A>T	noncoding	Benign
5	14405652	A	T	A14405652T	TRIO	NM_007118.4(TRIO):c.4717-196A>T	noncoding	Benign
5	14405786	G	A	G14405786A	TRIO	NM_007118.4(TRIO):c.4717-62G>A	noncoding	Benign
5	14405811	C	T	C14405811T	TRIO	NM_007118.4(TRIO):c.4717-37C>T	noncoding	Benign
5	14405832	C	G	C14405832G	TRIO	NM_007118.4(TRIO):c.4717-16C>G	noncoding	Benign
5	14419443	A	T	A14419443T	TRIO	NM_007118.4(TRIO):c.4960-335A>T	noncoding	Benign
5	14419469	A	G	A14419469G	TRIO	NM_007118.4(TRIO):c.4960-309A>G	noncoding	Benign
5	14419656	G	C	G14419656C	TRIO	NM_007118.4(TRIO):c.4960-122G>C	noncoding	Benign
5	14419741	C	T	C14419741T	TRIO	NM_007118.4(TRIO):c.4960-37C>T	noncoding	Benign
5	14419822	C	T	C14419822T	TRIO	NM_007118.4(TRIO):c.5004C>T:p.Thr1668=	coding	Benign/Likely_benign
5	14419918	A	C	A14419918C	TRIO	NM_007118.4(TRIO):c.5100A>C:p.Thr1700=	coding	Benign
5	14420041	G	A	G14420041A	TRIO	NM_007118.4(TRIO):c.5203+20G>A	noncoding	Benign
5	14420334	T	G	T14420334G	TRIO	NM_007118.4(TRIO):c.5203+313T>G	noncoding	Benign
5	14420335	T	C	T14420335C	TRIO	NM_007118.4(TRIO):c.5203+314T>C	noncoding	Benign
5	14460767	G	A	G14460767A	TRIO	NM_007118.4(TRIO):c.5204-252G>A	noncoding	Benign
5	14461059	A	G	A14461059G	TRIO	NM_007118.4(TRIO):c.5244A>G:p.Ala1748=	coding	Benign
5	14461146	C	T	C14461146T	TRIO	NM_007118.4(TRIO):c.5331C>T:p.Leu1777=	coding	Benign/Likely_benign
5	14461345	G	A	G14461345A	TRIO	NM_007118.4(TRIO):c.5496+34G>A	noncoding	Benign
5	14461348	G	A	G14461348A	TRIO	NM_007118.4(TRIO):c.5496+37G>A	noncoding	Benign
5	14461354	G	A	G14461354A	TRIO	NM_007118.4(TRIO):c.5496+43G>A	noncoding	Benign
5	14462508	C	G	C14462508G	TRIO	NM_007118.4(TRIO):c.5497-247C>G	noncoding	Benign
5	14462707	C	T	C14462707T	TRIO	NM_007118.4(TRIO):c.5497-48C>T	noncoding	Benign
5	14462723	A	G	A14462723G	TRIO	NM_007118.4(TRIO):c.5497-32A>G	noncoding	Benign
5	14462781	C	T	C14462781T	TRIO	NM_007118.4(TRIO):c.5523C>T:p.Ser1841=	coding	Benign
5	14465548	T	C	T14465548C	TRIO	NM_007118.4(TRIO):c.5671T>C:p.Ser1891Pro	coding	Benign
5	14465678	G	A	G14465678A	TRIO	NM_007118.4(TRIO):c.5763+38G>A	noncoding	Benign
5	14471557	T	A	T14471557A	TRIO	NM_007118.4(TRIO):c.5912+91T>A	noncoding	Benign
5	14472517	T	C	T14472517C	TRIO	NM_007118.4(TRIO):c.5913-75T>C	noncoding	Benign
5	14472685	T	G	T14472685G	TRIO	NM_007118.4(TRIO):c.5979+27T>G	noncoding	Benign
5	14473969	A	G	A14473969G	TRIO	NM_007118.4(TRIO):c.5980-25A>G	noncoding	Benign
5	14474121	G	A	G14474121A	TRIO	NM_007118.4(TRIO):c.6083+24G>A	noncoding	Benign
5	14474174	G	A	G14474174A	TRIO	NM_007118.4(TRIO):c.6083+77G>A	noncoding	Benign
5	14476859	G	T	G14476859T	TRIO	NM_007118.4(TRIO):c.6084-35G>T	noncoding	Benign
5	14476881	C	G	C14476881G	TRIO	NM_007118.4(TRIO):c.6084-13C>G	noncoding	Benign
5	14476979	T	C	T14476979C	TRIO	NM_007118.4(TRIO):c.6153+16T>C	noncoding	Benign
5	14479201	G	A	G14479201A	TRIO	NM_007118.4(TRIO):c.6154-60G>A	noncoding	Benign
5	14479214	G	A	G14479214A	TRIO	NM_007118.4(TRIO):c.6154-47G>A	noncoding	Benign/Likely_benign
5	14479224	T	C	T14479224C	TRIO	NM_007118.4(TRIO):c.6154-37T>C	noncoding	Benign
5	14479645	A	G	A14479645G	TRIO	NM_007118.4(TRIO):c.6244-274A>G	noncoding	Benign
5	14479709	A	G	A14479709G	TRIO	NM_007118.4(TRIO):c.6244-210A>G	noncoding	Benign
5	14479829	G	A	G14479829A	TRIO	NM_007118.4(TRIO):c.6244-90G>A	noncoding	Benign
5	14479882	C	T	C14479882T	TRIO	NM_007118.4(TRIO):c.6244-37C>T	noncoding	Benign
5	14482727	A	G	A14482727G	TRIO	NM_007118.4(TRIO):c.6611A>G:p.Lys2204Arg	coding	Benign/Likely_benign
5	14482819	C	T	C14482819T	TRIO	NM_007118.4(TRIO):c.6657+46C>T	noncoding	Benign
5	14483055	G	A	G14483055A	TRIO	NM_007118.4(TRIO):c.6657+282G>A	noncoding	Benign
5	14484890	A	G	A14484890G	TRIO	NM_007118.4(TRIO):c.6658-179A>G	noncoding	Benign
5	14485272	T	A	T14485272A	TRIO	NM_007118.4(TRIO):c.6835+26T>A	noncoding	Benign
5	14485277	T	C	T14485277C	TRIO	NM_007118.4(TRIO):c.6835+31T>C	noncoding	Benign
5	14485284	C	T	C14485284T	TRIO	NM_007118.4(TRIO):c.6835+38C>T	noncoding	Benign
5	14485520	A	G	A14485520G	TRIO	NM_007118.4(TRIO):c.6835+274A>G	noncoding	Benign
5	14487173	T	C	T14487173C	TRIO	NM_007118.4(TRIO):c.6836-291T>C	noncoding	Benign
5	14487421	C	A	C14487421A	TRIO	NM_007118.4(TRIO):c.6836-43C>A	noncoding	Benign
5	14487461	C	T	C14487461T	TRIO	NM_007118.4(TRIO):c.6836-3C>T	noncoding	Benign
5	14487794	C	T	C14487794T	TRIO	NM_007118.4(TRIO):c.7166C>T:p.Ala2389Val	coding	Benign
5	14492541	C	G	C14492541G	TRIO	NM_007118.4(TRIO):c.7633-26C>G	noncoding	Benign
5	14492805	G	A	G14492805A	TRIO	NM_007118.4(TRIO):c.7871G>A:p.Gly2624Glu	coding	Benign
5	14496951	G	A	G14496951A	TRIO	NM_007118.4(TRIO):c.7953G>A:p.Arg2651=	coding	Benign
5	14497170	A	G	A14497170G	TRIO	NM_007118.4(TRIO):c.8019+153A>G	noncoding	Benign
5	14497575	C	T	C14497575T	TRIO	NM_007118.4(TRIO):c.8020-272C>T	noncoding	Benign
5	14497691	A	G	A14497691G	TRIO	NM_007118.4(TRIO):c.8020-156A>G	noncoding	Benign
5	14497751	G	A	G14497751A	TRIO	NM_007118.4(TRIO):c.8020-96G>A	noncoding	Benign
5	14498049	C	T	C14498049T	TRIO	NM_007118.4(TRIO):c.8048-40C>T	noncoding	Benign
5	14498316	G	A	G14498316A	TRIO	NM_007118.4(TRIO):c.8210+65G>A	noncoding	Benign
5	14498514	C	T	C14498514T	TRIO	NM_007118.4(TRIO):c.8211-5C>T	noncoding	Benign
5	14498515	G	A	G14498515A	TRIO	NM_007118.4(TRIO):c.8211-4G>A	noncoding	Benign
5	14498601	A	G	A14498601G	TRIO	NM_007118.4(TRIO):c.8293A>G:p.Met2765Val	coding	Benign
5	14498618	G	A	G14498618A	TRIO	NM_007118.4(TRIO):c.8310G>A:p.Ser2770=	coding	Benign
5	14498936	G	T	G14498936T	TRIO	NM_007118.4(TRIO):c.8332+296G>T	noncoding	Benign
5	14502281	T	C	T14502281C	TRIO	NM_007118.4(TRIO):c.8333-298T>C	noncoding	Benign
5	14502387	A	G	A14502387G	TRIO	NM_007118.4(TRIO):c.8333-192A>G	noncoding	Benign
5	14502605	A	T	A14502605T	TRIO	NM_007118.4(TRIO):c.8359A>T:p.Thr2787Ser	coding	Benign
5	14502848	G	A	G14502848A	TRIO	NM_007118.4(TRIO):c.8411+191G>A	noncoding	Benign
5	14504295	T	C	T14504295C	TRIO	NM_007118.4(TRIO):c.8412-98T>C	noncoding	Benign
5	14506801	C	A	C14506801A	TRIO	NM_007118.4(TRIO):c.8613-321C>A	noncoding	Benign
5	14507276	G	A	G14507276A	TRIO	NM_007118.4(TRIO):c.8751+16G>A	noncoding	Benign
5	14507493	A	G	A14507493G	TRIO	NM_007118.4(TRIO):c.8751+233A>G	noncoding	Benign
5	14507796	A	G	A14507796G	TRIO	NM_007118.4(TRIO):c.8752-84A>G	noncoding	Benign
5	14507921	C	T	C14507921T	TRIO	NM_007118.4(TRIO):c.8793C>T:p.Thr2931=	coding	Benign
5	14508302	G	T	G14508302T	TRIO	NM_007118.4(TRIO):c.9174G>T:p.Thr3058=	coding	Benign/Likely_benign
5	14508306	G	A	G14508306A	TRIO	NM_007118.4(TRIO):c.9178G>A:p.Val3060Ile	coding	Benign/Likely_benign
5	14664954	C	T	C14664954T	OTULIN	NM_138348.6(OTULIN):c.129C>T:p.Pro43=	coding	Benign
5	14678666	T	A	T14678666A	OTULIN	NM_138348.6(OTULIN):c.230-15T>A	noncoding	Benign
5	14678709	G	A	G14678709A	OTULIN	NM_138348.6(OTULIN):c.258G>A:p.Met86Ile	coding	Pathogenic
5	14681446	T	C	T14681446C	OTULIN	NM_138348.6(OTULIN):c.325-18T>C	noncoding	Benign
5	14681544	G	C	G14681544C	OTULIN	NM_138348.6(OTULIN):c.405G>C:p.Leu135=	coding	Benign
5	14681578	C	T	C14681578T	OTULIN	NM_138348.6(OTULIN):c.439C>T:p.Pro147Ser	coding	Benign
5	14687552	G	C	G14687552C	OTULIN	NM_138348.6(OTULIN):c.500G>C:p.Trp167Ser	coding	Pathogenic
5	14690285	G	A	G14690285A	OTULIN	NM_138348.6(OTULIN):c.841G>A:p.Gly281Arg	coding	Pathogenic
5	14690310	T	C	T14690310C	OTULIN	NM_138348.6(OTULIN):c.864+2T>C	noncoding	Pathogenic
5	14692925	G	A	G14692925A	OTULIN	NM_138348.6(OTULIN):c.936G>A:p.Thr312=	coding	Benign
5	14711389	C	T	C14711389T	ANKH	NM_054027.6(ANKH):c.1366-79G>A	noncoding	Benign
5	14711550	A	G	A14711550G	ANKH	NM_054027.6(ANKH):c.1366-240T>C	noncoding	Benign
5	14712600	A	T	A14712600T	ANKH	NM_054027.6(ANKH):c.1365+274T>A	noncoding	Benign
5	14713642	C	G	C14713642G	ANKH	NM_054027.6(ANKH):c.1167G>C:p.Gly389=	coding	Benign
5	14713654	C	T	C14713654T	ANKH	NM_054027.6(ANKH):c.1155G>A:p.Ala385=	coding	Benign
5	14741560	C	T	C14741560T	ANKH	NM_054027.6(ANKH):c.1011+267G>A	noncoding	Benign
5	14742193	T	C	T14742193C	ANKH	NM_054027.6(ANKH):c.916-271A>G	noncoding	Benign
5	14745705	G	A	G14745705A	ANKH	NM_054027.6(ANKH):c.915+165C>T	noncoding	Benign
5	14746160	T	C	T14746160C	ANKH	NM_054027.6(ANKH):c.823-198A>G	noncoding	Benign
5	14746169	T	G	T14746169G	ANKH	NM_054027.6(ANKH):c.823-207A>C	noncoding	Benign
5	14746174	C	T	C14746174T	ANKH	NM_054027.6(ANKH):c.823-212G>A	noncoding	Benign
5	14746187	T	C	T14746187C	ANKH	NM_054027.6(ANKH):c.823-225A>G	noncoding	Benign
5	14746241	A	G	A14746241G	ANKH	NM_054027.6(ANKH):c.823-279T>C	noncoding	Benign
5	14748849	T	G	T14748849G	ANKH	NM_054027.6(ANKH):c.822+323A>C	noncoding	Benign
5	14749019	C	T	C14749019T	ANKH	NM_054027.6(ANKH):c.822+153G>A	noncoding	Benign
5	14749117	C	A	C14749117A	ANKH	NM_054027.6(ANKH):c.822+55G>T	noncoding	Benign/Likely_benign
5	14749442	T	C	T14749442C	ANKH	NM_054027.6(ANKH):c.688-136A>G	noncoding	Benign
5	14749461	T	C	T14749461C	ANKH	NM_054027.6(ANKH):c.688-155A>G	noncoding	Benign
5	14749492	G	T	G14749492T	ANKH	NM_054027.6(ANKH):c.688-186C>A	noncoding	Benign
5	14750946	G	T	G14750946T	ANKH	NM_054027.6(ANKH):c.687+123C>A	noncoding	Benign
5	14751072	C	T	C14751072T	ANKH	NM_054027.6(ANKH):c.684G>A:p.Leu228=	coding	Benign
5	14751257	G	C	G14751257C	ANKH	NM_054027.6(ANKH):c.517-18C>G	noncoding	Benign/Likely_benign
5	14751290	C	T	C14751290T	ANKH	NM_054027.6(ANKH):c.517-51G>A	noncoding	Benign
5	14751291	T	C	T14751291C	ANKH	NM_054027.6(ANKH):c.517-52A>G	noncoding	Benign
5	14751479	T	G	T14751479G	ANKH	NM_054027.6(ANKH):c.517-240A>C	noncoding	Benign
5	14755662	A	C	A14755662C	ANKH	NM_054027.6(ANKH):c.516+199T>G	noncoding	Benign
5	14768697	G	A	G14768697A	ANKH	NM_054027.6(ANKH):c.313+278C>T	noncoding	Benign
5	14871458	G	A	G14871458A	ANKH	NM_054027.6(ANKH):c.-11C>T	noncoding	Pathogenic
5	16475167	G	A	G16475167A	RETREG1	NM_001034850.3(RETREG1):c.1068C>T:p.Gly356=	coding	Benign
5	16475251	A	G	A16475251G	RETREG1	NM_001034850.3(RETREG1):c.1001-17T>C	noncoding	Benign
5	16475444	A	G	A16475444G	RETREG1	NM_001034850.3(RETREG1):c.1001-210T>C	noncoding	Benign
5	16477815	G	A	G16477815A	RETREG1	NM_001034850.3(RETREG1):c.874-27C>T	noncoding	Benign
5	16479003	G	C	G16479003C	RETREG1	NM_001034850.3(RETREG1):c.671-16C>G	noncoding	Benign
5	16565822	C	G	C16565822G	RETREG1	NM_001034850.3(RETREG1):c.428-29G>C	noncoding	Benign
5	16565875	G	A	G16565875A	RETREG1	NM_001034850.3(RETREG1):c.428-82C>T	noncoding	Benign
5	16572010	A	T	A16572010T	RETREG1	NM_001034850.3(RETREG1):c.413T>A:p.Leu138Ter	coding	Pathogenic
5	16616738	C	T	C16616738T	RETREG1	NM_001034850.3(RETREG1):c.234G>A:p.Trp78Ter	coding	Pathogenic
5	16617337	A	C	A16617337C	RETREG1	Single_allele	noncoding	Benign
5	16617377	A	G	A16617377G	RETREG1	Single_allele	noncoding	Benign
5	23509955	C	T	C23509955T	PRDM9	NM_020227.4(PRDM9):c.229C>T:p.Arg77Ter	coding	Pathogenic
5	23522263	C	T	C23522263T	PRDM9	NM_020227.4(PRDM9):c.509-41C>T	noncoding	Benign
5	23522641	T	G	T23522641G	PRDM9	NM_020227.4(PRDM9):c.638T>G:p.Ile213Ser	coding	Pathogenic
5	23522680	A	T	A23522680T	PRDM9	NM_020227.4(PRDM9):c.677A>T:p.Lys226Met	coding	Pathogenic
5	23523239	C	T	C23523239T	PRDM9	NM_020227.4(PRDM9):c.883-52C>T	noncoding	Benign
5	23526045	T	A	T23526045A	PRDM9	NM_020227.4(PRDM9):c.1145-188T>A	noncoding	Benign
5	23527130	C	G	C23527130G	PRDM9	NM_020227.4(PRDM9):c.2042C>G:p.Thr681Ser	coding	Benign/Likely_benign
5	23527810	A	G	A23527810G	PRDM9	NM_020227.4(PRDM9):c.*37A>G	noncoding	Benign
5	23527898	G	A	G23527898A	PRDM9	NM_020227.4(PRDM9):c.*125G>A	noncoding	Benign
5	23528117	C	T	C23528117T	PRDM9	Single_allele	noncoding	Benign
5	31508710	C	A	C31508710A	DROSHA	NM_001382508.1(DROSHA):c.1498G>T:p.Glu500Ter	coding	Pathogenic
5	32087268	A	G	A32087268G	PDZD2	NM_178140.4(PDZD2):c.3820A>G:p.Thr1274Ala	coding	Benign
5	32379104	G	A	G32379104A	ZFR	NM_016107.5(ZFR):c.2835+11C>T	noncoding	Benign
5	32400161	A	G	A32400161G	ZFR	NM_016107.5(ZFR):c.1559T>C:p.Ile520Thr	coding	Benign
5	32403241	C	T	C32403241T	ZFR	NM_016107.5(ZFR):c.1381G>A:p.Val461Ile	coding	Benign
5	32406766	G	A	G32406766A	ZFR	NM_016107.5(ZFR):c.1032+8C>T	noncoding	Benign
5	32444218	G	A	G32444218A	ZFR	NM_016107.5(ZFR):c.137+11C>T	noncoding	Benign
5	32444343	A	C	A32444343C	ZFR	NM_016107.5(ZFR):c.38-15T>G	noncoding	Benign
5	32711527	C	A	C32711527A	NPR3	NM_001204375.2(NPR3):c.-250C>A	coding	Benign
5	32711771	G	C	G32711771C	NPR3	NM_001204375.2(NPR3):c.-6G>C	coding	Benign
5	32712013	T	C	T32712013C	NPR3	NM_001204375.2(NPR3):c.237T>C:p.Ala79=	coding	Benign
5	32712568	C	T	C32712568T	NPR3	NM_001204375.2(NPR3):c.769+23C>T	noncoding	Benign
5	32712725	C	T	C32712725T	NPR3	NM_001204375.2(NPR3):c.769+180C>T	noncoding	Benign
5	32724750	G	A	G32724750A	NPR3	NM_001204375.2(NPR3):c.822G>A:p.Ala274=	coding	Benign
5	32724836	C	A	C32724836A	NPR3	NM_001204375.2(NPR3):c.892+16C>A	noncoding	Benign
5	32738652	G	A	G32738652A	NPR3	NM_001204375.2(NPR3):c.893-212G>A	noncoding	Benign
5	32738780	G	A	G32738780A	NPR3	NM_001204375.2(NPR3):c.893-84G>A	noncoding	Benign
5	32738785	C	T	C32738785T	NPR3	NM_001204375.2(NPR3):c.893-79C>T	noncoding	Benign
5	32739183	G	T	G32739183T	NPR3	NM_001204375.2(NPR3):c.1059+153G>T	noncoding	Benign
5	32739185	T	G	T32739185G	NPR3	NM_001204375.2(NPR3):c.1059+155T>G	noncoding	Benign
5	32774734	C	T	C32774734T	NPR3	NM_001204375.2(NPR3):c.1086C>T:p.His362=	coding	Benign
5	32774941	G	T	G32774941T	NPR3	NM_001204375.2(NPR3):c.1195+98G>T	noncoding	Benign
5	32780729	C	T	C32780729T	NPR3	NM_001204375.2(NPR3):c.1203C>T:p.Ala401=	coding	Benign
5	32784670	A	G	A32784670G	NPR3	NM_001204375.2(NPR3):c.1427-126A>G	noncoding	Benign
5	32784891	C	T	C32784891T	NPR3	NM_001204375.2(NPR3):c.1514+8C>T	noncoding	Benign
5	32786009	G	A	G32786009A	NPR3	NM_001204375.2(NPR3):c.1515-225G>A	noncoding	Benign
5	32786283	A	G	A32786283G	NPR3	NM_001204375.2(NPR3):c.1564A>G:p.Asn522Asp	coding	Benign
5	32786545	A	G	A32786545G	NPR3	NM_001204375.2(NPR3):c.*200A>G	noncoding	Benign
5	33457430	T	A	T33457430A	TARS1	NM_152295.5(TARS1):c.984+27T>A	noncoding	Benign
5	33458531	G	A	G33458531A	TARS1	NM_152295.5(TARS1):c.985-35G>A	noncoding	Benign
5	33461929	G	A	G33461929A	TARS1	NM_152295.5(TARS1):c.1653G>A:p.Ala551=	coding	Benign
5	33947063	C	G	C33947063G	SLC45A2	NM_016180.5(SLC45A2):c.1368+100G>C	coding	Benign
5	33947251	A	G	A33947251G	SLC45A2	NM_016180.5(SLC45A2):c.1280T>C:p.Leu427Pro	coding	Pathogenic
5	33947275	G	A	G33947275A	SLC45A2	NM_016180.5(SLC45A2):c.1256C>T:p.Pro419Leu	coding	Pathogenic
5	33947277	G	A	G33947277A	SLC45A2	NM_016180.5(SLC45A2):c.1254C>T:p.Phe418=	coding	Benign
5	33947439	C	A	C33947439A	SLC45A2	NM_016180.5(SLC45A2):c.1157-65G>T	noncoding	Benign
5	33951446	A	G	A33951446G	SLC45A2	NM_016180.5(SLC45A2):c.1156+108T>C	coding	Benign
5	33951553	C	G	C33951553G	SLC45A2	NM_016180.5(SLC45A2):c.1156+1G>C	coding	Pathogenic
5	33951721	G	T	G33951721T	SLC45A2	NM_016180.5(SLC45A2):c.1033-44C>A	noncoding	Benign
5	33951956	A	C	A33951956C	SLC45A2	NM_016180.5(SLC45A2):c.1033-279T>G	noncoding	Benign
5	33952001	C	T	C33952001T	SLC45A2	NM_016180.5(SLC45A2):c.1033-324G>A	noncoding	Benign
5	33954489	T	A	T33954489A	SLC45A2	NM_016180.5(SLC45A2):c.904A>T:p.Thr302Ser	coding	Benign
5	33954775	G	A	G33954775A	SLC45A2	NM_016180.5(SLC45A2):c.889-271C>T	noncoding	Benign
5	33964035	T	A	T33964035A	SLC45A2	NM_016180.5(SLC45A2):c.563-19A>T	noncoding	Benign
5	33964105	T	G	T33964105G	SLC45A2	NM_016180.5(SLC45A2):c.563-89A>C	noncoding	Benign
5	33964136	A	G	A33964136G	SLC45A2	NM_016180.5(SLC45A2):c.563-120T>C	noncoding	Benign
5	33964247	T	C	T33964247C	SLC45A2	NM_016180.5(SLC45A2):c.563-231A>G	noncoding	Benign
5	33982463	G	A	G33982463A	SLC45A2	NM_016180.5(SLC45A2):c.386-51C>T	noncoding	Benign
5	33984307	C	T	C33984307T	SLC45A2	NM_016180.5(SLC45A2):c.277G>A:p.Asp93Asn	coding	Pathogenic
5	33988023	G	A	G33988023A	AMACR;C1QTNF3-AMACR;SLC45A2	NM_014324.6(AMACR):c.*1070C>T	noncoding	Benign/Likely_benign
5	33988130	G	A	G33988130A	AMACR;C1QTNF3-AMACR;SLC45A2	NM_014324.6(AMACR):c.*963C>T	noncoding	Benign/Likely_benign
5	33988476	C	A	C33988476A	AMACR;C1QTNF3-AMACR;SLC45A2	NM_014324.6(AMACR):c.*617G>T	coding	Benign/Likely_benign
5	33998974	G	A	G33998974A	AMACR	NM_014324.6(AMACR):c.553-147C>T	noncoding	Benign
5	34004750	C	G	C34004750G	AMACR	NM_014324.6(AMACR):c.392-16G>C	noncoding	Benign
5	34004786	A	T	A34004786T	AMACR	NM_014324.6(AMACR):c.392-52T>A	noncoding	Benign
5	34005457	A	G	A34005457G	AMACR	NM_014324.6(AMACR):c.391+299T>C	noncoding	Benign
5	34005917	G	A	G34005917A	AMACR	NM_014324.6(AMACR):c.248-18C>T	noncoding	Benign
5	34006098	G	A	G34006098A	AMACR	NM_014324.6(AMACR):c.248-199C>T	noncoding	Benign
5	34007554	G	A	G34007554A	AMACR	NM_014324.6(AMACR):c.247+219C>T	noncoding	Benign
5	34007604	A	C	A34007604C	AMACR	NM_014324.6(AMACR):c.247+169T>G	noncoding	Benign
5	34008171	C	A	C34008171A	AMACR	Single_allele	noncoding	Benign
5	34929928	T	G	T34929928G	DNAJC21	NM_001012339.3(DNAJC21):c.97+12T>G	noncoding	Benign
5	34933865	C	T	C34933865T	DNAJC21	NM_001012339.3(DNAJC21):c.148C>T:p.Gln50Ter	coding	Pathogenic
5	34933918	A	G	A34933918G	DNAJC21	NM_001012339.3(DNAJC21):c.191+10A>G	noncoding	Benign
5	34933919	C	T	C34933919T	DNAJC21	NM_001012339.3(DNAJC21):c.191+11C>T	noncoding	Benign
5	34936162	C	T	C34936162T	DNAJC21	NM_001012339.3(DNAJC21):c.334C>T:p.Arg112Cys	coding	Benign
5	34937370	A	G	A34937370G	DNAJC21	NM_001012339.3(DNAJC21):c.483A>G:p.Gln161=	coding	Benign
5	34937560	G	T	G34937560T	DNAJC21	NM_001012339.3(DNAJC21):c.673G>T:p.Glu225Ter	coding	Pathogenic
5	34937646	G	A	G34937646A	DNAJC21	NM_001012339.3(DNAJC21):c.743+16G>A	noncoding	Benign
5	34945017	A	G	A34945017G	DNAJC21	NM_001012339.3(DNAJC21):c.1134A>G:p.Pro378=	coding	Benign
5	34953974	C	G	C34953974G	DNAJC21	NM_001012339.3(DNAJC21):c.1407C>G:p.Val469=	coding	Benign
5	34954665	A	G	A34954665G	DNAJC21	NM_001012339.3(DNAJC21):c.1547A>G:p.Asn516Ser	coding	Benign
5	35617754	C	T	C35617754T	SPEF2	Single_allele	noncoding	Benign
5	35641489	G	A	G35641489A	SPEF2	NM_024867.4(SPEF2):c.220G>A:p.Gly74Ser	coding	Benign
5	35641517	A	G	A35641517G	SPEF2	NM_024867.4(SPEF2):c.248A>G:p.His83Arg	coding	Benign
5	35641717	C	T	C35641717T	SPEF2	NM_024867.4(SPEF2):c.414+34C>T	noncoding	Benign
5	35644234	T	G	T35644234G	SPEF2	NM_024867.4(SPEF2):c.415-121T>G	noncoding	Benign
5	35649244	A	G	A35649244G	SPEF2	NM_024867.4(SPEF2):c.727-117A>G	noncoding	Benign
5	35649286	C	G	C35649286G	SPEF2	NM_024867.4(SPEF2):c.727-75C>G	noncoding	Benign
5	35649563	T	G	T35649563G	SPEF2	NM_024867.4(SPEF2):c.791+138T>G	noncoding	Benign
5	35659137	G	A	G35659137A	SPEF2	NM_024867.4(SPEF2):c.1097G>A:p.Arg366Lys	coding	Benign
5	35659253	T	C	T35659253C	SPEF2	NM_024867.4(SPEF2):c.1167+46T>C	noncoding	Benign
5	35666987	A	G	A35666987G	SPEF2	NM_024867.4(SPEF2):c.1168-85A>G	noncoding	Benign
5	35667409	G	A	G35667409A	SPEF2	NM_024867.4(SPEF2):c.1355+150G>A	noncoding	Benign
5	35690926	C	G	C35690926G	SPEF2	NM_024867.4(SPEF2):c.1525-111C>G	noncoding	Benign
5	35692915	G	A	G35692915A	SPEF2	NM_024867.4(SPEF2):c.1899+191G>A	noncoding	Benign
5	35695813	A	C	A35695813C	SPEF2	NM_024867.4(SPEF2):c.2037+17A>C	noncoding	Benign
5	35697861	A	G	A35697861G	SPEF2	NM_024867.4(SPEF2):c.2141+68A>G	noncoding	Benign
5	35697923	C	T	C35697923T	SPEF2	NM_024867.4(SPEF2):c.2141+130C>T	noncoding	Benign
5	35697980	C	G	C35697980G	SPEF2	NM_024867.4(SPEF2):c.2141+187C>G	noncoding	Benign
5	35700270	A	T	A35700270T	SPEF2	NM_024867.4(SPEF2):c.2142-226A>T	noncoding	Benign
5	35700325	A	G	A35700325G	SPEF2	NM_024867.4(SPEF2):c.2142-171A>G	noncoding	Benign
5	35700838	A	G	A35700838G	SPEF2	NM_024867.4(SPEF2):c.2398+86A>G	noncoding	Benign
5	35700915	T	A	T35700915A	SPEF2	NM_024867.4(SPEF2):c.2398+163T>A	noncoding	Benign
5	35704373	A	G	A35704373G	SPEF2	NM_024867.4(SPEF2):c.2399-181A>G	noncoding	Benign
5	35704415	C	T	C35704415T	SPEF2	NM_024867.4(SPEF2):c.2399-139C>T	noncoding	Benign
5	35704482	C	T	C35704482T	SPEF2	NM_024867.4(SPEF2):c.2399-72C>T	noncoding	Benign
5	35704790	G	A	G35704790A	SPEF2	NM_024867.4(SPEF2):c.2507+128G>A	noncoding	Benign
5	35705456	T	C	T35705456C	SPEF2	NM_024867.4(SPEF2):c.2508-195T>C	noncoding	Benign
5	35705780	G	A	G35705780A	SPEF2	NM_024867.4(SPEF2):c.2637G>A:p.Thr879=	coding	Benign
5	35708832	A	T	A35708832T	SPEF2	NM_024867.4(SPEF2):c.2666-116A>T	noncoding	Benign
5	35712678	A	G	A35712678G	SPEF2	NM_024867.4(SPEF2):c.2840-134A>G	noncoding	Benign
5	35712732	G	C	G35712732C	SPEF2	NM_024867.4(SPEF2):c.2840-80G>C	noncoding	Benign
5	35712905	T	G	T35712905G	SPEF2	NM_024867.4(SPEF2):c.2914+19T>G	noncoding	Benign
5	35713034	G	A	G35713034A	SPEF2	NM_024867.4(SPEF2):c.2914+148G>A	noncoding	Benign
5	35713071	G	A	G35713071A	SPEF2	NM_024867.4(SPEF2):c.2914+185G>A	noncoding	Benign
5	35727636	A	G	A35727636G	SPEF2	NM_024867.4(SPEF2):c.2915-39A>G	noncoding	Benign
5	35727755	G	A	G35727755A	SPEF2	NM_024867.4(SPEF2):c.2995G>A:p.Ala999Thr	coding	Benign
5	35727887	A	G	A35727887G	SPEF2	NM_024867.4(SPEF2):c.3063+64A>G	noncoding	Benign
5	35739858	A	G	A35739858G	SPEF2	NM_024867.4(SPEF2):c.3064-61A>G	noncoding	Benign
5	35740084	G	A	G35740084A	SPEF2	NM_024867.4(SPEF2):c.3191+38G>A	noncoding	Benign
5	35753822	T	C	T35753822C	SPEF2	NM_024867.4(SPEF2):c.3468+61T>C	noncoding	Benign
5	35763793	T	C	T35763793C	SPEF2	NM_024867.4(SPEF2):c.3801+91T>C	noncoding	Benign
5	35763814	A	G	A35763814G	SPEF2	NM_024867.4(SPEF2):c.3801+112A>G	noncoding	Benign
5	35763866	G	T	G35763866T	SPEF2	NM_024867.4(SPEF2):c.3801+164G>T	noncoding	Benign
5	35771889	G	A	G35771889A	SPEF2	NM_024867.4(SPEF2):c.3949+133G>A	noncoding	Benign
5	35773675	C	T	C35773675T	SPEF2	NM_024867.4(SPEF2):c.3950-218C>T	noncoding	Benign
5	35773724	A	G	A35773724G	SPEF2	NM_024867.4(SPEF2):c.3950-169A>G	noncoding	Benign
5	35776137	A	G	A35776137G	SPEF2	NM_024867.4(SPEF2):c.4079-120A>G	noncoding	Benign
5	35779345	A	C	A35779345C	SPEF2	NM_024867.4(SPEF2):c.4446A>C:p.Lys1482Asn	coding	Benign
5	35792254	A	C	A35792254C	SPEF2	NM_024867.4(SPEF2):c.4448-86A>C	noncoding	Benign
5	35795636	T	C	T35795636C	SPEF2	NM_024867.4(SPEF2):c.4738-67T>C	noncoding	Benign
5	35799892	A	G	A35799892G	SPEF2	NM_024867.4(SPEF2):c.4831-76A>G	noncoding	Benign
5	35806968	T	C	T35806968C	SPEF2	NM_024867.4(SPEF2):c.5256+16T>C	noncoding	Benign
5	35807030	A	T	A35807030T	SPEF2	NM_024867.4(SPEF2):c.5256+78A>T	noncoding	Benign
5	35807353	T	G	T35807353G	SPEF2	NM_024867.4(SPEF2):c.5379+100T>G	noncoding	Benign
5	35857105	C	T	C35857105T	IL7R	NM_002185.5(IL7R):c.82+46C>T	noncoding	Benign
5	35857133	C	G	C35857133G	IL7R	NM_002185.5(IL7R):c.82+74C>G	noncoding	Benign
5	35857160	A	G	A35857160G	IL7R	NM_002185.5(IL7R):c.82+101A>G	noncoding	Benign
5	35860535	A	G	A35860535G	IL7R	NM_002185.5(IL7R):c.83-317A>G	noncoding	Benign
5	35860665	T	C	T35860665C	IL7R	NM_002185.5(IL7R):c.83-187T>C	noncoding	Benign
5	35861050	C	G	C35861050G	IL7R	NM_002185.5(IL7R):c.221+60C>G	noncoding	Benign
5	35861166	T	G	T35861166G	IL7R	NM_002185.5(IL7R):c.221+176T>G	noncoding	Benign
5	35861239	C	G	C35861239G	IL7R	NM_002185.5(IL7R):c.221+249C>G	noncoding	Benign
5	35867319	G	T	G35867319T	IL7R	NM_002185.5(IL7R):c.235G>T:p.Glu79Ter	coding	Pathogenic
5	35867323	T	C	T35867323C	IL7R	NM_002185.5(IL7R):c.239T>C:p.Val80Ala	coding	Benign
5	35867349	C	T	C35867349T	IL7R	NM_002185.5(IL7R):c.265C>T:p.Gln89Ter	coding	Pathogenic/Likely_pathogenic
5	35867367	G	A	G35867367A	IL7R	NM_002185.5(IL7R):c.283G>A:p.Glu95Lys	coding	Benign
5	35867390	T	A	T35867390A	IL7R	NM_002185.5(IL7R):c.306T>A:p.Ile102=	coding	Benign
5	35867463	G	A	G35867463A	IL7R	NM_002185.5(IL7R):c.379G>A:p.Val127Ile	coding	Pathogenic
5	35867944	A	G	A35867944G	IL7R	NM_002185.5(IL7R):c.379+481A>G	noncoding	Benign
5	35867954	C	G	C35867954G	IL7R	NM_002185.5(IL7R):c.379+491C>G	noncoding	Benign
5	35870751	C	A	C35870751A	IL7R	NM_002185.5(IL7R):c.380-305C>A	noncoding	Benign
5	35870908	C	T	C35870908T	IL7R	NM_002185.5(IL7R):c.380-148C>T	noncoding	Benign
5	35871132	A	C	A35871132C	IL7R	NM_002185.5(IL7R):c.456A>C:p.Thr152=	coding	Benign
5	35871217	T	C	T35871217C	IL7R	NM_002185.5(IL7R):c.537+4T>C	noncoding	Benign
5	35871303	A	C	A35871303C	IL7R	NM_002185.5(IL7R):c.537+90A>C	noncoding	Benign
5	35871361	T	C	T35871361C	IL7R	NM_002185.5(IL7R):c.537+148T>C	noncoding	Benign
5	35873558	C	T	C35873558T	IL7R	NM_002185.5(IL7R):c.616C>T:p.Arg206Ter	coding	Pathogenic
5	35873604	G	T	G35873604T	IL7R	NM_002185.5(IL7R):c.662G>T:p.Ser221Ile	coding	Pathogenic/Likely_pathogenic
5	35873770	T	G	T35873770G	IL7R	NM_002185.5(IL7R):c.706+122T>G	noncoding	Benign
5	35875491	A	T	A35875491T	IL7R	NM_002185.5(IL7R):c.801-21A>T	noncoding	Benign
5	35875852	C	A	C35875852A	IL7R	NM_002185.5(IL7R):c.877-131C>A	noncoding	Benign
5	36115109	C	T	C36115109T	LMBRD2	NM_001007527.2(LMBRD2):c.1448G>A:p.Arg483His	coding	Pathogenic/Likely_pathogenic
5	36141108	A	G	A36141108G	LMBRD2	NM_001007527.2(LMBRD2):c.367T>C:p.Trp123Arg	coding	Pathogenic
5	36195346	A	G	A36195346G	NADK2	NM_001085411.3(NADK2):c.1191-64T>C	noncoding	Benign
5	36200060	G	C	G36200060C	NADK2	NM_001085411.3(NADK2):c.1066+167C>G	noncoding	Benign
5	36200297	G	A	G36200297A	NADK2	NM_001085411.3(NADK2):c.1013-17C>T	noncoding	Benign/Likely_benign
5	36201209	C	G	C36201209G	NADK2	NM_001085411.3(NADK2):c.957-48G>C	noncoding	Benign
5	36201234	C	T	C36201234T	NADK2	NM_001085411.3(NADK2):c.957-73G>A	noncoding	Benign
5	36207322	G	T	G36207322T	NADK2	NM_001085411.3(NADK2):c.861-57C>A	noncoding	Benign
5	36212115	C	T	C36212115T	NADK2	NM_001085411.3(NADK2):c.782-193G>A	noncoding	Benign
5	36225728	G	A	G36225728A	NADK2	NM_001085411.3(NADK2):c.479-105C>T	noncoding	Benign
5	36241853	T	C	T36241853C	NADK2	NM_001085411.3(NADK2):c.-55A>G	noncoding	Benign
5	36241886	G	C	G36241886C	NADK2	NM_001085411.3(NADK2):c.-88C>G	noncoding	Benign
5	36242252	A	G	A36242252G	NADK2	NM_153013.5(NADK2):c.-346T>C	noncoding	Benign
5	36629559	A	G	A36629559G	SLC1A3	NM_004172.5(SLC1A3):c.291A>G:p.Leu97=	coding	Benign
5	36629605	T	A	T36629605A	SLC1A3	NM_004172.5(SLC1A3):c.319+18T>A	noncoding	Benign
5	36670903	T	C	T36670903C	SLC1A3	NM_004172.5(SLC1A3):c.320-126T>C	noncoding	Benign
5	36680023	A	G	A36680023G	SLC1A3	NM_004172.5(SLC1A3):c.1094+163A>G	noncoding	Benign
5	36680216	G	A	G36680216A	SLC1A3	NM_004172.5(SLC1A3):c.1095-179G>A	noncoding	Benign
5	36680611	C	T	C36680611T	SLC1A3	NM_004172.5(SLC1A3):c.1289+22C>T	noncoding	Benign
5	36680629	C	T	C36680629T	SLC1A3	NM_004172.5(SLC1A3):c.1289+40C>T	noncoding	Benign
5	36683786	G	A	G36683786A	SLC1A3	NM_004172.5(SLC1A3):c.1290-78G>A	noncoding	Benign
5	36683801	C	T	C36683801T	SLC1A3	NM_004172.5(SLC1A3):c.1290-63C>T	noncoding	Benign
5	36683818	G	C	G36683818C	SLC1A3	NM_004172.5(SLC1A3):c.1290-46G>C	noncoding	Benign
5	36685888	T	A	T36685888A	SLC1A3	NM_004172.5(SLC1A3):c.1425-177T>A	noncoding	Benign
5	36686057	G	C	G36686057C	SLC1A3	NM_004172.5(SLC1A3):c.1425-8G>C	noncoding	Benign/Likely_benign
5	36686074	C	G	C36686074G	SLC1A3	NM_004172.5(SLC1A3):c.1434C>G:p.Leu478=	coding	Benign/Likely_benign
5	36876791	C	T	C36876791T	NIPBL	NM_133433.4(NIPBL):c.-467C>T	noncoding	Pathogenic/Likely_pathogenic
5	36876938	C	A	C36876938A	NIPBL	NM_133433.4(NIPBL):c.-320C>A	noncoding	Pathogenic
5	36876946	T	A	T36876946A	NIPBL	NM_133433.4(NIPBL):c.-312T>A	noncoding	Benign/Likely_benign
5	36958496	A	G	A36958496G	NIPBL	NM_133433.4(NIPBL):c.358+265A>G	noncoding	Benign
5	36961498	C	T	C36961498T	NIPBL	NM_133433.4(NIPBL):c.373C>T:p.Gln125Ter	coding	Pathogenic
5	36970638	G	A	G36970638A	NIPBL	NM_133433.4(NIPBL):c.611-238G>A	noncoding	Benign
5	36975760	C	T	C36975760T	NIPBL	NM_133433.4(NIPBL):c.869-16C>T	noncoding	Benign
5	36976440	C	A	C36976440A	NIPBL	NM_133433.4(NIPBL):c.1495+38C>A	noncoding	Benign
5	36984701	A	C	A36984701C	NIPBL	NM_133433.4(NIPBL):c.1521A>C:p.Gln507His	coding	Pathogenic
5	36985166	A	C	A36985166C	NIPBL	NM_133433.4(NIPBL):c.1986A>C:p.Lys662Asn	coding	Benign
5	36986220	C	T	C36986220T	NIPBL	NM_133433.4(NIPBL):c.3040C>T:p.Gln1014Ter	coding	Pathogenic
5	36986280	A	T	A36986280T	NIPBL	NM_133433.4(NIPBL):c.3100A>T:p.Lys1034Ter	coding	Pathogenic
5	36986586	T	C	T36986586C	NIPBL	NM_133433.4(NIPBL):c.3121+285T>C	noncoding	Benign
5	36995474	G	A	G36995474A	NIPBL	NM_133433.4(NIPBL):c.3122-148G>A	noncoding	Benign
5	36995925	T	C	T36995925C	NIPBL	NM_133433.4(NIPBL):c.3304+121T>C	noncoding	Benign
5	37000069	C	T	C37000069T	NIPBL	NM_133433.4(NIPBL):c.3305-304C>T	noncoding	Benign
5	37000384	C	T	C37000384T	NIPBL	NM_133433.4(NIPBL):c.3316C>T:p.Arg1106Ter	coding	Pathogenic
5	37000474	G	T	G37000474T	NIPBL	NM_133433.4(NIPBL):c.3406G>T:p.Glu1136Ter	coding	Pathogenic
5	37002536	T	C	T37002536C	NIPBL	NM_133433.4(NIPBL):c.3665-126T>C	noncoding	Benign
5	37002564	T	C	T37002564C	NIPBL	NM_133433.4(NIPBL):c.3665-98T>C	noncoding	Benign
5	37002706	C	T	C37002706T	NIPBL	NM_133433.4(NIPBL):c.3709C>T:p.Gln1237Ter	coding	Pathogenic
5	37006887	T	A	T37006887A	NIPBL	NM_133433.4(NIPBL):c.4087+299T>A	noncoding	Benign
5	37007626	C	G	C37007626G	NIPBL	NM_133433.4(NIPBL):c.4239+152C>G	noncoding	Benign
5	37007960	C	T	C37007960T	NIPBL	NM_133433.4(NIPBL):c.4240-48C>T	noncoding	Benign
5	37008059	C	T	C37008059T	NIPBL	NM_133433.4(NIPBL):c.4291C>T:p.Gln1431Ter	coding	Pathogenic
5	37008637	T	G	T37008637G	NIPBL	NM_133433.4(NIPBL):c.4335T>G:p.Tyr1445Ter	coding	Pathogenic
5	37010064	C	T	C37010064T	NIPBL	NM_133433.4(NIPBL):c.4422-23C>T	noncoding	Benign
5	37010302	A	G	A37010302G	NIPBL	NM_133433.4(NIPBL):c.4560+77A>G	noncoding	Benign
5	37014597	C	T	C37014597T	NIPBL	NM_133433.4(NIPBL):c.4561-86C>T	noncoding	Benign
5	37016093	C	T	C37016093T	NIPBL	NM_133433.4(NIPBL):c.4699C>T:p.Gln1567Ter	coding	Pathogenic
5	37016420	A	G	A37016420G	NIPBL	NM_133433.4(NIPBL):c.4776+250A>G	noncoding	Benign
5	37020397	T	C	T37020397C	NIPBL	NM_133433.4(NIPBL):c.5011-62T>C	noncoding	Benign
5	37020446	A	G	A37020446G	NIPBL	NM_133433.4(NIPBL):c.5011-13A>G	noncoding	Benign/Likely_benign
5	37021831	T	C	T37021831C	NIPBL	NM_133433.4(NIPBL):c.5329-220T>C	noncoding	Benign
5	37022183	C	T	C37022183T	NIPBL	NM_133433.4(NIPBL):c.5427+34C>T	noncoding	Benign
5	37022651	T	A	T37022651A	NIPBL	NM_133433.4(NIPBL):c.5574+261T>A	noncoding	Benign
5	37022673	G	A	G37022673A	NIPBL	NM_133433.4(NIPBL):c.5574+283G>A	noncoding	Benign
5	37022688	T	C	T37022688C	NIPBL	NM_133433.4(NIPBL):c.5574+298T>C	noncoding	Benign
5	37024417	A	T	A37024417T	NIPBL	NM_133433.4(NIPBL):c.5575-168A>T	noncoding	Benign
5	37024559	T	G	T37024559G	NIPBL	NM_133433.4(NIPBL):c.5575-26T>G	noncoding	Benign
5	37026332	G	A	G37026332A	NIPBL	NM_133433.4(NIPBL):c.5808+5G>A	noncoding	Pathogenic/Likely_pathogenic
5	37036349	A	G	A37036349G	NIPBL	NM_133433.4(NIPBL):c.5863-30A>G	noncoding	Benign
5	37038342	A	T	A37038342T	NIPBL	NM_133433.4(NIPBL):c.5972-260A>T	noncoding	Benign
5	37045458	T	G	T37045458G	NIPBL	NM_133433.4(NIPBL):c.6359T>G:p.Leu2120Ter	coding	Pathogenic
5	37045661	T	A	T37045661A	NIPBL	NM_133433.4(NIPBL):c.6498+64T>A	noncoding	Benign
5	37048532	T	C	T37048532C	NIPBL	NM_133433.4(NIPBL):c.6620T>C:p.Met2207Thr	coding	Pathogenic
5	37049076	C	G	C37049076G	NIPBL	NM_133433.4(NIPBL):c.6764-35C>G	noncoding	Benign
5	37049166	G	T	G37049166T	NIPBL	NM_133433.4(NIPBL):c.6819G>T:p.Gly2273_Met2274=	coding	Pathogenic
5	37051777	A	C	A37051777C	NIPBL	NM_133433.4(NIPBL):c.6955-2A>C	noncoding	Pathogenic
5	37052719	A	T	A37052719T	NIPBL	NM_133433.4(NIPBL):c.7263+153A>T	noncoding	Benign
5	37052764	G	A	G37052764A	NIPBL	NM_133433.4(NIPBL):c.7263+198G>A	noncoding	Benign
5	37057229	C	T	C37057229T	NIPBL	NM_133433.4(NIPBL):c.7307C>T:p.Ala2436Val	coding	Pathogenic
5	37057336	A	G	A37057336G	NIPBL	NM_133433.4(NIPBL):c.7410+4A>G	noncoding	Pathogenic/Likely_pathogenic
5	37060797	G	A	G37060797A	NIPBL	NM_133433.4(NIPBL):c.7686-47G>A	noncoding	Benign
5	37061057	G	A	G37061057A	NIPBL	NM_133433.4(NIPBL):c.7860+39G>A	noncoding	Benign
5	37064845	C	T	C37064845T	NIPBL	NM_133433.4(NIPBL):c.8368C>T:p.Gln2790Ter	coding	Pathogenic
5	37107798	A	G	A37107798G	CPLANE1	NM_001384732.1(CPLANE1):c.9580-20T>C	noncoding	Benign
5	37114984	G	A	G37114984A	CPLANE1	NM_001384732.1(CPLANE1):c.9376C>T:p.Gln3126Ter	coding	Pathogenic
5	37121548	A	G	A37121548G	CPLANE1	NM_001384732.1(CPLANE1):c.9185+69T>C	noncoding	Benign
5	37121739	G	T	G37121739T	CPLANE1	NM_001384732.1(CPLANE1):c.9063C>A:p.Tyr3021Ter	coding	Pathogenic
5	37121756	G	A	G37121756A	CPLANE1	NM_001384732.1(CPLANE1):c.9046C>T:p.Arg3016Ter	coding	Pathogenic/Likely_pathogenic
5	37122455	G	A	G37122455A	CPLANE1	NM_001384732.1(CPLANE1):c.8992C>T:p.Gln2998Ter	coding	Pathogenic
5	37138885	G	T	G37138885T	CPLANE1	NM_001384732.1(CPLANE1):c.8664-37C>A	noncoding	Benign
5	37154111	T	A	T37154111A	CPLANE1	NM_001384732.1(CPLANE1):c.8120-118A>T	noncoding	Benign
5	37154167	A	G	A37154167G	CPLANE1	NM_001384732.1(CPLANE1):c.8120-174T>C	noncoding	Benign
5	37158021	A	G	A37158021G	CPLANE1	NM_001384732.1(CPLANE1):c.7813-153T>C	noncoding	Benign
5	37162296	C	A	C37162296A	CPLANE1	NM_001384732.1(CPLANE1):c.7690+169G>T	noncoding	Benign
5	37164332	A	G	A37164332G	CPLANE1	NM_001384732.1(CPLANE1):c.7534-5T>C	noncoding	Benign
5	37164504	T	C	T37164504C	CPLANE1	NM_001384732.1(CPLANE1):c.7534-177A>G	noncoding	Benign
5	37165658	C	T	C37165658T	CPLANE1	NM_001384732.1(CPLANE1):c.7414G>A:p.Ala2472Thr	coding	Benign
5	37165670	G	A	G37165670A	CPLANE1	NM_001384732.1(CPLANE1):c.7402C>T:p.Gln2468Ter	coding	Pathogenic
5	37165768	G	A	G37165768A	CPLANE1	NM_001384732.1(CPLANE1):c.7401-97C>T	noncoding	Benign
5	37169370	T	C	T37169370C	CPLANE1	NM_001384732.1(CPLANE1):c.6654A>G:p.Thr2218=	coding	Benign/Likely_benign
5	37169480	A	G	A37169480G	CPLANE1	NM_001384732.1(CPLANE1):c.6544T>C:p.Leu2182=	coding	Benign
5	37177688	C	A	C37177688A	CPLANE1	NM_001384732.1(CPLANE1):c.5833G>T:p.Glu1945Ter	coding	Pathogenic
5	37179239	G	A	G37179239A	CPLANE1	NM_001384732.1(CPLANE1):c.5820+122C>T	noncoding	Benign
5	37179270	T	C	T37179270C	CPLANE1	NM_001384732.1(CPLANE1):c.5820+91A>G	noncoding	Benign
5	37182852	C	T	C37182852T	CPLANE1	NM_001384732.1(CPLANE1):c.5329G>A:p.Val1777Ile	coding	Benign/Likely_benign
5	37182986	T	C	T37182986C	CPLANE1	NM_001384732.1(CPLANE1):c.5195A>G:p.Asp1732Gly	coding	Benign
5	37183849	C	T	C37183849T	CPLANE1	NM_001384732.1(CPLANE1):c.4482-150G>A	noncoding	Benign
5	37183904	A	G	A37183904G	CPLANE1	NM_001384732.1(CPLANE1):c.4482-205T>C	noncoding	Benign
5	37187566	C	A	C37187566A	CPLANE1	NM_001384732.1(CPLANE1):c.3928G>T:p.Glu1310Ter	coding	Pathogenic
5	37195993	G	A	G37195993A	CPLANE1	NM_001384732.1(CPLANE1):c.3676C>T:p.Arg1226Ter	coding	Pathogenic/Likely_pathogenic
5	37198770	G	A	G37198770A	CPLANE1	NM_001384732.1(CPLANE1):c.3604C>T:p.Gln1202Ter	coding	Pathogenic
5	37198775	G	T	G37198775T	CPLANE1	NM_001384732.1(CPLANE1):c.3599C>A:p.Ala1200Glu	coding	Pathogenic
5	37205549	C	G	C37205549G	CPLANE1	NM_001384732.1(CPLANE1):c.3150-95G>C	noncoding	Benign
5	37206519	T	C	T37206519C	CPLANE1	NM_001384732.1(CPLANE1):c.2921-94A>G	noncoding	Benign
5	37221454	A	T	A37221454T	CPLANE1	NM_001384732.1(CPLANE1):c.2616T>A:p.Tyr872Ter	coding	Pathogenic
5	37224606	A	T	A37224606T	CPLANE1	NM_001384732.1(CPLANE1):c.2426T>A:p.Leu809Ter	coding	Pathogenic
5	37226693	A	C	A37226693C	CPLANE1	NM_001384732.1(CPLANE1):c.1902T>G:p.Leu634=	coding	Benign/Likely_benign
5	37227876	T	G	T37227876G	CPLANE1	NM_001384732.1(CPLANE1):c.1122-59A>C	noncoding	Benign
5	37230629	G	A	G37230629A	CPLANE1	NM_001384732.1(CPLANE1):c.1121+238C>T	noncoding	Benign
5	37231287	C	T	C37231287T	CPLANE1	NM_001384732.1(CPLANE1):c.939-238G>A	noncoding	Benign
5	37239138	A	C	A37239138C	CPLANE1	NM_001384732.1(CPLANE1):c.835-178T>G	noncoding	Benign
5	37239275	C	T	C37239275T	CPLANE1	NM_001384732.1(CPLANE1):c.835-315G>A	noncoding	Benign
5	37243028	A	G	A37243028G	CPLANE1	NM_001384732.1(CPLANE1):c.662T>C:p.Val221Ala	coding	Benign/Likely_benign
5	37243104	A	G	A37243104G	CPLANE1	NM_001384732.1(CPLANE1):c.586T>C:p.Cys196Arg	coding	Pathogenic
5	37244343	C	T	C37244343T	CPLANE1	NM_001384732.1(CPLANE1):c.570+32G>A	noncoding	Benign
5	37244691	T	G	T37244691G	CPLANE1	NM_001384732.1(CPLANE1):c.338-84A>C	noncoding	Benign
5	37244693	A	C	A37244693C	CPLANE1	NM_001384732.1(CPLANE1):c.338-86T>G	noncoding	Benign
5	37245346	T	C	T37245346C	CPLANE1	NM_001384732.1(CPLANE1):c.337+133A>G	noncoding	Benign
5	37245348	T	C	T37245348C	CPLANE1	NM_001384732.1(CPLANE1):c.337+131A>G	noncoding	Benign
5	37245350	T	C	T37245350C	CPLANE1	NM_001384732.1(CPLANE1):c.337+129A>G	noncoding	Benign
5	37245839	C	A	C37245839A	CPLANE1	NM_001384732.1(CPLANE1):c.88G>T:p.Glu30Ter	coding	Pathogenic
5	37245842	T	A	T37245842A	CPLANE1	NM_001384732.1(CPLANE1):c.85A>T:p.Lys29Ter	coding	Pathogenic
5	37245859	C	T	C37245859T	CPLANE1	NM_001384732.1(CPLANE1):c.82-14G>A	noncoding	Benign/Likely_benign
5	37247698	T	C	T37247698C	CPLANE1	NM_001384732.1(CPLANE1):c.1A>G:p.Met1Val	coding	Pathogenic
5	37247799	T	C	T37247799C	CPLANE1	NM_001384732.1(CPLANE1):c.-47-54A>G	noncoding	Benign
5	37291881	T	C	T37291881C	NUP155	NM_153485.3(NUP155):c.*19A>G	noncoding	Benign
5	37292137	G	A	G37292137A	NUP155	NM_153485.3(NUP155):c.4038-99C>T	noncoding	Benign
5	37293113	A	G	A37293113G	NUP155	NM_153485.3(NUP155):c.3931-128T>C	noncoding	Benign
5	37294294	G	T	G37294294T	NUP155	NM_153485.3(NUP155):c.3930+35C>A	noncoding	Benign
5	37294371	T	C	T37294371C	NUP155	NM_153485.3(NUP155):c.3888A>G:p.Leu1296=	coding	Benign
5	37298779	T	C	T37298779C	NUP155	NM_153485.3(NUP155):c.3793+89A>G	noncoding	Benign
5	37299692	A	C	A37299692C	NUP155	NM_153485.3(NUP155):c.3562-124T>G	noncoding	Benign
5	37301350	T	C	T37301350C	NUP155	NM_153485.3(NUP155):c.3561+87A>G	noncoding	Benign
5	37304725	A	G	A37304725G	NUP155	NM_153485.3(NUP155):c.3162+14T>C	noncoding	Benign
5	37307287	T	C	T37307287C	NUP155	NM_153485.3(NUP155):c.2903+10A>G	noncoding	Benign
5	37309002	C	T	C37309002T	NUP155	NM_153485.3(NUP155):c.2767+127G>A	noncoding	Benign
5	37313975	T	A	T37313975A	NUP155	NM_153485.3(NUP155):c.2436+223A>T	noncoding	Benign
5	37318193	G	T	G37318193T	NUP155	NM_153485.3(NUP155):c.2208-108C>A	noncoding	Benign
5	37318272	T	C	T37318272C	NUP155	NM_153485.3(NUP155):c.2208-187A>G	noncoding	Benign
5	37324223	C	A	C37324223A	NUP155	NM_153485.3(NUP155):c.2092-116G>T	noncoding	Benign
5	37325817	A	C	A37325817C	NUP155	NM_153485.3(NUP155):c.2091+84T>G	noncoding	Benign
5	37325838	T	C	T37325838C	NUP155	NM_153485.3(NUP155):c.2091+63A>G	noncoding	Benign
5	37328573	G	A	G37328573A	NUP155	NM_153485.3(NUP155):c.1814-153C>T	noncoding	Benign
5	37330237	A	G	A37330237G	NUP155	NM_153485.3(NUP155):c.1630-105T>C	noncoding	Benign
5	37331561	C	T	C37331561T	NUP155	NM_153485.3(NUP155):c.1629+124G>A	noncoding	Benign
5	37331883	G	T	G37331883T	NUP155	NM_153485.3(NUP155):c.1519-88C>A	noncoding	Benign
5	37331935	C	T	C37331935T	NUP155	NM_153485.3(NUP155):c.1519-140G>A	noncoding	Benign
5	37333423	C	T	C37333423T	NUP155	NM_153485.3(NUP155):c.1518+40G>A	noncoding	Benign
5	37333625	A	G	A37333625G	NUP155	NM_153485.3(NUP155):c.1356T>C:p.Ala452=	coding	Benign
5	37341250	T	C	T37341250C	NUP155	NM_153485.3(NUP155):c.1094-8A>G	noncoding	Benign
5	37350288	C	A	C37350288A	NUP155	NM_153485.3(NUP155):c.724-23G>T	noncoding	Benign
5	37350325	C	T	C37350325T	NUP155	NM_153485.3(NUP155):c.724-60G>A	noncoding	Benign
5	37351066	T	C	T37351066C	NUP155	NM_153485.3(NUP155):c.723+124A>G	noncoding	Benign
5	37352727	G	A	G37352727A	NUP155	NM_153485.3(NUP155):c.556+10C>T	noncoding	Benign
5	37364341	C	T	C37364341T	NUP155	NM_153485.3(NUP155):c.201G>A:p.Leu67=	coding	Benign
5	37364591	A	G	A37364591G	NUP155	NM_153485.3(NUP155):c.158-207T>C	noncoding	Benign
5	37371287	G	A	G37371287A	NUP155	Single_allele	noncoding	Benign
5	37816208	G	A	G37816208A	GDNF	NM_000514.4(GDNF):c.152-73C>T	noncoding	Benign
5	37816386	C	T	C37816386T	GDNF	NM_000514.4(GDNF):c.152-251G>A	noncoding	Benign
5	37816453	C	T	C37816453T	GDNF	NM_000514.4(GDNF):c.152-318G>A	noncoding	Benign
5	38370435	T	C	T38370435C	EGFLAM	NM_152403.4(EGFLAM):c.685T>C:p.Trp229Arg	coding	Benign
5	38482368	T	A	T38482368A	LIFR	NM_001127671.2(LIFR):c.2671-150A>T	noncoding	Benign
5	38482380	A	C	A38482380C	LIFR	NM_001127671.2(LIFR):c.2671-162T>G	noncoding	Benign
5	38482402	C	T	C38482402T	LIFR	NM_001127671.2(LIFR):c.2671-184G>A	noncoding	Benign
5	38484758	A	G	A38484758G	LIFR	NM_001127671.2(LIFR):c.2591+17T>C	noncoding	Benign/Likely_benign
5	38485111	C	A	C38485111A	LIFR	NM_001127671.2(LIFR):c.2498-243G>T	noncoding	Benign
5	38485805	A	C	A38485805C	LIFR	NM_001127671.2(LIFR):c.2497+14T>G	noncoding	Benign/Likely_benign
5	38485818	C	T	C38485818T	LIFR	NM_001127671.2(LIFR):c.2497+1G>A	noncoding	Pathogenic
5	38485852	C	A	C38485852A	LIFR	NM_001127671.2(LIFR):c.2464G>T:p.Glu822Ter	coding	Pathogenic
5	38490169	A	G	A38490169G	LIFR	NM_001127671.2(LIFR):c.2167+21T>C	noncoding	Benign
5	38493464	G	A	G38493464A	LIFR	NM_001127671.2(LIFR):c.2065+142C>T	noncoding	Benign
5	38493635	G	C	G38493635C	LIFR	NM_001127671.2(LIFR):c.2036C>G:p.Ser679Ter	coding	Pathogenic
5	38493688	C	T	C38493688T	LIFR	NM_001127671.2(LIFR):c.1983G>A:p.Trp661Ter	coding	Pathogenic
5	38493803	G	A	G38493803A	LIFR	NM_001127671.2(LIFR):c.1886-18C>T	noncoding	Benign/Likely_benign
5	38496160	T	C	T38496160C	LIFR	NM_001127671.2(LIFR):c.1885+222A>G	noncoding	Benign
5	38496580	C	A	C38496580A	LIFR	NM_001127671.2(LIFR):c.1687G>T:p.Glu563Ter	coding	Pathogenic
5	38496677	C	T	C38496677T	LIFR	NM_001127671.2(LIFR):c.1672-82G>A	noncoding	Benign
5	38499252	A	G	A38499252G	LIFR	NM_001127671.2(LIFR):c.1671+261T>C	noncoding	Benign
5	38502768	G	C	G38502768C	LIFR	NM_001127671.2(LIFR):c.1469C>G:p.Ser490Ter	coding	Pathogenic
5	38502916	C	T	C38502916T	LIFR	NM_001127671.2(LIFR):c.1438-117G>A	noncoding	Benign
5	38504201	A	T	A38504201T	LIFR	NM_001127671.2(LIFR):c.1292-80T>A	noncoding	Benign
5	38505653	T	C	T38505653C	LIFR	NM_001127671.2(LIFR):c.1291+252A>G	noncoding	Benign
5	38505944	G	A	G38505944A	LIFR	NM_001127671.2(LIFR):c.1252C>T:p.Arg418Ter	coding	Pathogenic
5	38506878	T	C	T38506878C	LIFR	NM_001127671.2(LIFR):c.992-246A>G	noncoding	Benign
5	38510681	A	G	A38510681G	LIFR	NM_001127671.2(LIFR):c.774T>C:p.Asp258=	coding	Benign
5	38512052	T	C	T38512052C	LIFR	NM_001127671.2(LIFR):c.562-88A>G	noncoding	Benign
5	38523203	T	C	T38523203C	LIFR	NM_001127671.2(LIFR):c.561+216A>G	noncoding	Benign
5	38523207	C	T	C38523207T	LIFR	NM_001127671.2(LIFR):c.561+212G>A	noncoding	Benign
5	38523638	T	C	T38523638C	LIFR	NM_001127671.2(LIFR):c.398-56A>G	noncoding	Benign
5	38527126	T	G	T38527126G	LIFR	NM_001127671.2(LIFR):c.397+29A>C	noncoding	Benign
5	38527227	C	A	C38527227A	LIFR	NM_001127671.2(LIFR):c.325G>T:p.Glu109Ter	coding	Pathogenic
5	38527426	C	T	C38527426T	LIFR	NM_001127671.2(LIFR):c.258-132G>A	noncoding	Benign
5	38528879	G	C	G38528879C	LIFR	NM_001127671.2(LIFR):c.143-39C>G	noncoding	Benign
5	38530625	A	T	A38530625T	LIFR	NM_001127671.2(LIFR):c.23T>A:p.Leu8Ter	coding	Pathogenic
5	39107251	T	A	T39107251A	FYB1	NM_001465.6(FYB1):c.*192A>T	noncoding	Benign
5	39107781	A	G	A39107781G	FYB1	NM_001465.6(FYB1):c.2468-316T>C	noncoding	Benign
5	39108207	A	G	A39108207G	FYB1	NM_001465.6(FYB1):c.2467+24T>C	noncoding	Benign
5	39108220	A	G	A39108220G	FYB1	NM_001465.6(FYB1):c.2467+11T>C	noncoding	Benign
5	39110312	A	T	A39110312T	FYB1	NM_001465.6(FYB1):c.2435+44T>A	noncoding	Benign
5	39119120	T	G	T39119120G	FYB1	NM_001465.6(FYB1):c.2239-84A>C	noncoding	Benign
5	39119142	A	G	A39119142G	FYB1	NM_001465.6(FYB1):c.2239-106T>C	noncoding	Benign
5	39119459	T	C	T39119459C	FYB1	NM_001465.6(FYB1):c.2238+76A>G	noncoding	Benign
5	39119621	C	A	C39119621A	FYB1	NM_001465.6(FYB1):c.2152G>T:p.Val718Phe	coding	Benign
5	39124406	C	T	C39124406T	FYB1	NM_001465.6(FYB1):c.2046-128G>A	noncoding	Benign
5	39124491	A	T	A39124491T	FYB1	NM_001465.6(FYB1):c.2046-213T>A	noncoding	Benign
5	39125697	G	C	G39125697C	FYB1	NM_001465.6(FYB1):c.2045+301C>G	noncoding	Benign
5	39127601	C	T	C39127601T	FYB1	NM_001465.6(FYB1):c.1907+140G>A	noncoding	Benign
5	39127858	G	C	G39127858C	FYB1	NM_001465.6(FYB1):c.1841-51C>G	noncoding	Benign
5	39133883	T	G	T39133883G	FYB1	NM_001465.6(FYB1):c.1817+325A>C	noncoding	Benign
5	39133917	A	G	A39133917G	FYB1	NM_001465.6(FYB1):c.1817+291T>C	noncoding	Benign
5	39134067	T	C	T39134067C	FYB1	NM_001465.6(FYB1):c.1817+141A>G	noncoding	Benign
5	39134193	C	T	C39134193T	FYB1	NM_001465.6(FYB1):c.1817+15G>A	noncoding	Benign
5	39134315	G	A	G39134315A	FYB1	NM_001465.6(FYB1):c.1710C>T:p.Asp570=	coding	Benign
5	39134500	A	C	A39134500C	FYB1	NM_001465.6(FYB1):c.1676-151T>G	noncoding	Benign
5	39134633	C	T	C39134633T	FYB1	NM_001465.6(FYB1):c.1675+222G>A	noncoding	Benign
5	39137278	A	G	A39137278G	FYB1	NM_001465.6(FYB1):c.1515+322T>C	noncoding	Benign
5	39137864	G	A	G39137864A	FYB1	NM_001465.6(FYB1):c.1395-144C>T	noncoding	Benign
5	39138432	T	C	T39138432C	FYB1	NM_001465.6(FYB1):c.1394+225A>G	noncoding	Benign
5	39139033	T	A	T39139033A	FYB1	NM_001465.6(FYB1):c.1359+200A>T	noncoding	Benign
5	39139074	A	G	A39139074G	FYB1	NM_001465.6(FYB1):c.1359+159T>C	noncoding	Benign
5	39139563	A	G	A39139563G	FYB1	NM_001465.6(FYB1):c.1340-311T>C	noncoding	Benign
5	39140986	A	G	A39140986G	FYB1	NM_001465.6(FYB1):c.1339+109T>C	noncoding	Benign
5	39141138	G	A	G39141138A	FYB1	NM_001465.6(FYB1):c.1296C>T:p.Ser432=	coding	Benign
5	39141419	T	A	T39141419A	FYB1	NM_001465.6(FYB1):c.1293-278A>T	noncoding	Benign
5	39153149	G	T	G39153149T	FYB1	NM_001465.6(FYB1):c.1292+299C>A	noncoding	Benign
5	39153427	G	A	G39153427A	FYB1	NM_001465.6(FYB1):c.1292+21C>T	noncoding	Benign
5	39201797	A	G	A39201797G	FYB1	NM_001465.6(FYB1):c.1135+29T>C	noncoding	Benign
5	39202587	G	T	G39202587T	FYB1	NM_001465.6(FYB1):c.374C>A:p.Ser125Tyr	coding	Benign
5	39285236	A	G	A39285236G	C9	NM_001737.5(C9):c.1646-3T>C	noncoding	Benign
5	39288709	T	C	T39288709C	C9	NM_001737.5(C9):c.1645+14A>G	noncoding	Benign
5	39288785	C	T	C39288785T	C9	NM_001737.5(C9):c.1583G>A:p.Cys528Tyr	coding	Pathogenic
5	39306632	A	C	A39306632C	C9	NM_001737.5(C9):c.1401T>G:p.Val467=	coding	Benign
5	39306697	G	A	G39306697A	C9	NM_001737.5(C9):c.1336C>T:p.Arg446Ter	coding	Pathogenic
5	39306712	T	A	T39306712A	C9	NM_001737.5(C9):c.1321A>T:p.Lys441Ter	coding	Pathogenic
5	39311319	T	C	T39311319C	C9	NM_001737.5(C9):c.929A>G:p.Asn310Ser	coding	Benign
5	39311350	C	A	C39311350A	C9	NM_001737.5(C9):c.898G>T:p.Glu300Ter	coding	Pathogenic
5	39315810	T	C	T39315810C	C9	NM_001737.5(C9):c.835A>G:p.Thr279Ala	coding	Benign
5	39315993	C	T	C39315993T	C9	NM_001737.5(C9):c.652G>A:p.Glu218Lys	coding	Benign
5	39316009	G	A	G39316009A	C9	NM_001737.5(C9):c.636C>T:p.Phe212=	coding	Benign
5	39331664	G	A	G39331664A	C9	NM_001737.5(C9):c.615+12C>T	noncoding	Benign
5	39331684	T	C	T39331684C	C9	NM_001737.5(C9):c.607A>G:p.Ile203Val	coding	Benign
5	39331803	A	C	A39331803C	C9	NM_001737.5(C9):c.488T>G:p.Leu163Ter	coding	Pathogenic
5	39341162	G	A	G39341162A	C9	NM_001737.5(C9):c.460C>T:p.Arg154Ter	coding	Pathogenic/Likely_pathogenic
5	39341205	A	G	A39341205G	C9	NM_001737.5(C9):c.417T>C:p.Arg139=	coding	Benign
5	39364372	A	G	A39364372G	C9	NM_001737.5(C9):c.77+16T>C	noncoding	Benign
5	40679743	A	G	A40679743G	PTGER4	Single_allele	noncoding	Benign
5	40931063	G	A	G40931063A	C7	NM_000587.4(C7):c.63-1G>A	noncoding	Pathogenic
5	40934369	G	A	G40934369A	C7	NM_000587.4(C7):c.183G>A:p.Gln61=	coding	Benign
5	40936439	T	C	T40936439C	C7	NM_000587.4(C7):c.382T>C:p.Cys128Arg	coding	Benign
5	40937555	C	T	C40937555T	C7	NM_000587.4(C7):c.432C>T:p.Tyr144=	coding	Benign
5	40945295	G	A	G40945295A	C7	NM_000587.4(C7):c.665G>A:p.Arg222His	coding	Benign
5	40945322	C	G	C40945322G	C7	NM_000587.4(C7):c.692C>G:p.Ser231Cys	coding	Benign
5	40947588	T	C	T40947588C	C7	NM_000587.4(C7):c.739-14T>C	noncoding	Benign
5	40949895	C	T	C40949895T	C7	NM_000587.4(C7):c.983-9C>T	noncoding	Benign
5	40949917	C	T	C40949917T	C7	NM_000587.4(C7):c.996C>T:p.Val332=	coding	Benign
5	40949984	G	T	G40949984T	C7	NM_000587.4(C7):c.1063G>T:p.Glu355Ter	coding	Pathogenic
5	40955459	G	C	G40955459C	C7	NM_000587.4(C7):c.1166G>C:p.Ser389Thr	coding	Benign
5	40955551	A	C	A40955551C	C7	NM_000587.4(C7):c.1258A>C:p.Lys420Gln	coding	Benign
5	40958024	T	C	T40958024C	C7	NM_000587.4(C7):c.1261-9T>C	noncoding	Benign
5	40958026	T	G	T40958026G	C7	NM_000587.4(C7):c.1261-7T>G	noncoding	Benign
5	40958113	G	A	G40958113A	C7	NM_000587.4(C7):c.1341G>A:p.Glu447=	coding	Benign
5	40958188	T	C	T40958188C	C7	NM_000587.4(C7):c.1416T>C:p.His472=	coding	Benign
5	40958224	G	T	G40958224T	C7	NM_000587.4(C7):c.1452G>T:p.Ala484=	coding	Benign
5	40959477	G	A	G40959477A	C7	NM_000587.4(C7):c.1518G>A:p.Trp506Ter	coding	Pathogenic
5	40959501	A	G	A40959501G	C7	NM_000587.4(C7):c.1542A>G:p.Gln514=	coding	Benign
5	40959594	C	T	C40959594T	C7	NM_000587.4(C7):c.1635C>T:p.Cys545=	coding	Benign
5	40959638	C	A	C40959638A	C7	NM_000587.4(C7):c.1661+18C>A	noncoding	Benign
5	40964750	A	C	A40964750C	C7	NM_000587.4(C7):c.1759A>C:p.Thr587Pro	coding	Benign
5	40964783	A	T	A40964783T	C7	NM_000587.4(C7):c.1792A>T:p.Thr598Ser	coding	Benign
5	40964883	G	A	G40964883A	C7	NM_000587.4(C7):c.1882+10G>A	noncoding	Benign
5	40972383	T	A	T40972383A	C7	NM_000587.4(C7):c.1883-20T>A	noncoding	Benign
5	40976730	T	A	T40976730A	C7	NM_000587.4(C7):c.2075-20T>A	noncoding	Benign
5	40979827	C	G	C40979827G	C7	NM_000587.4(C7):c.2268C>G:p.Thr756=	coding	Benign
5	40979918	C	A	C40979918A	C7	NM_000587.4(C7):c.2350+9C>A	noncoding	Benign
5	40981587	C	A	C40981587A	C7	NM_000587.4(C7):c.*14C>A	noncoding	Benign
5	41142830	C	T	C41142830T	C6	NM_000065.5(C6):c.2800G>A:p.Ala934Thr	coding	Benign
5	41149979	T	C	T41149979C	C6	NM_000065.5(C6):c.2337A>G:p.Gln779=	coding	Benign
5	41153812	T	C	T41153812C	C6	NM_000065.5(C6):c.2288A>G:p.Lys763Arg	coding	Benign
5	41155006	G	A	G41155006A	C6	NM_000065.5(C6):c.2067C>T:p.Asp689=	coding	Benign
5	41158761	G	A	G41158761A	C6	NM_000065.5(C6):c.1881C>T:p.Asp627=	coding	Benign
5	41159090	C	T	C41159090T	C6	NM_000065.5(C6):c.1848G>A:p.Met616Ile	coding	Benign
5	41159152	G	A	G41159152A	C6	NM_000065.5(C6):c.1786C>T:p.Arg596Ter	coding	Pathogenic/Likely_pathogenic
5	41159237	C	G	C41159237G	C6	NM_000065.5(C6):c.1701G>C:p.Gln567His	coding	Benign
5	41159243	G	A	G41159243A	C6	NM_000065.5(C6):c.1695C>T:p.Asp565=	coding	Benign
5	41160191	A	G	A41160191G	C6	NM_000065.5(C6):c.1635T>C:p.Ser545=	coding	Benign
5	41161776	T	A	T41161776A	C6	NM_000065.5(C6):c.1375A>T:p.Lys459Ter	coding	Pathogenic
5	41161851	T	C	T41161851C	C6	NM_000065.5(C6):c.1300A>G:p.Ile434Val	coding	Benign
5	41172357	G	A	G41172357A	C6	NM_000065.5(C6):c.1169-10C>T	noncoding	Benign
5	41176710	A	G	A41176710G	C6	NM_000065.5(C6):c.933T>C:p.Ser311=	coding	Benign
5	41181463	C	A	C41181463A	C6	NM_000065.5(C6):c.823G>T:p.Gly275Trp	coding	Benign
5	41181476	T	A	T41181476A	C6	NM_000065.5(C6):c.810A>T:p.Ser270=	coding	Benign
5	41186084	T	G	T41186084G	C6	NM_000065.5(C6):c.712A>C:p.Asn238His	coding	Benign
5	41186118	T	G	T41186118G	C6	NM_000065.5(C6):c.678A>C:p.Thr226=	coding	Benign
5	41186119	G	A	G41186119A	C6	NM_000065.5(C6):c.677C>T:p.Thr226Ile	coding	Benign
5	41195884	T	C	T41195884C	C6	NM_000065.5(C6):c.495A>G:p.Gly165=	coding	Benign
5	41199832	G	T	G41199832T	C6	NM_000065.5(C6):c.381C>A:p.Cys127Ter	coding	Pathogenic
5	41201713	G	A	G41201713A	C6	NM_000065.5(C6):c.145C>T:p.Gln49Ter	coding	Pathogenic
5	41203124	G	T	G41203124T	C6	NM_000065.5(C6):c.107C>A:p.Ser36Ter	coding	Pathogenic
5	41203221	G	A	G41203221A	C6	NM_000065.5(C6):c.10C>T:p.Arg4Cys	coding	Benign
5	41739127	C	G	C41739127G	OXCT1	NM_000436.4(OXCT1):c.1521+263G>C	noncoding	Benign
5	41739524	A	G	A41739524G	OXCT1	NM_000436.4(OXCT1):c.1420-33T>C	noncoding	Benign
5	41749526	C	G	C41749526G	OXCT1	NM_000436.4(OXCT1):c.1419+1G>C	noncoding	Pathogenic
5	41749576	G	A	G41749576A	OXCT1	NM_000436.4(OXCT1):c.1370C>T:p.Thr457Ile	coding	Pathogenic
5	41761900	T	A	T41761900A	OXCT1	NM_000436.4(OXCT1):c.1338+211A>T	noncoding	Benign
5	41793730	C	T	C41793730T	OXCT1	NM_000436.4(OXCT1):c.1248+273G>A	noncoding	Benign
5	41794068	C	T	C41794068T	OXCT1	NM_000436.4(OXCT1):c.1183G>A:p.Asp395Asn	coding	Benign/Likely_benign
5	41794217	C	A	C41794217A	OXCT1	NM_000436.4(OXCT1):c.1173-139G>T	noncoding	Pathogenic
5	41801005	G	C	G41801005C	OXCT1	NM_000436.4(OXCT1):c.1099+17C>G	noncoding	Benign
5	41802857	C	G	C41802857G	OXCT1	NM_000436.4(OXCT1):c.1050+212G>C	noncoding	Benign
5	41803313	C	T	C41803313T	OXCT1	NM_000436.4(OXCT1):c.956-150G>A	noncoding	Benign
5	41805473	G	C	G41805473C	OXCT1	NM_000436.4(OXCT1):c.955+94C>G	noncoding	Benign
5	41805959	C	A	C41805959A	OXCT1	NM_000436.4(OXCT1):c.841-278G>T	noncoding	Benign
5	41807368	C	T	C41807368T	OXCT1	NM_000436.4(OXCT1):c.803G>A:p.Arg268His	coding	Pathogenic
5	41807440	T	C	T41807440C	OXCT1	NM_000436.4(OXCT1):c.733-2A>G	noncoding	Pathogenic
5	41807768	T	C	T41807768C	OXCT1	NM_000436.4(OXCT1):c.733-330A>G	noncoding	Benign
5	41842644	T	C	T41842644C	OXCT1	NM_000436.4(OXCT1):c.671+31A>G	noncoding	Benign
5	41842697	G	A	G41842697A	OXCT1	NM_000436.4(OXCT1):c.649C>T:p.Arg217Ter	coding	Pathogenic
5	41853227	T	C	T41853227C	OXCT1	NM_000436.4(OXCT1):c.414+192A>G	noncoding	Benign
5	42565741	C	T	C42565741T	GHR	NM_000163.5(GHR):c.-11-123C>T	coding	Benign
5	42566064	A	T	A42566064T	GHR	NM_000163.5(GHR):c.70+120A>T	noncoding	Benign
5	42689020	G	A	G42689020A	GHR	NM_000163.5(GHR):c.266+1G>A	coding	Pathogenic
5	42689438	G	A	G42689438A	GHR	NM_000163.5(GHR):c.266+419G>A	noncoding	Benign
5	42694931	G	A	G42694931A	GHR	NM_000163.5(GHR):c.281G>A:p.Trp94Ter	coding	Pathogenic
5	42695369	G	A	G42695369A	GHR	NM_000163.5(GHR):c.439+280G>A	noncoding	Benign
5	42700015	T	C	T42700015C	GHR	NM_000163.5(GHR):c.618+13T>C	noncoding	Benign
5	42700794	A	G	A42700794G	GHR	NM_000163.5(GHR):c.618+792A>G	noncoding	Pathogenic
5	42701054	G	A	G42701054A	GHR	NM_000163.5(GHR):c.618+1052G>A	noncoding	Benign
5	42701884	C	A	C42701884A	GHR	NM_000163.5(GHR):c.618+1882C>A	noncoding	Benign
5	42701922	G	A	G42701922A	GHR	NM_000163.5(GHR):c.618+1920G>A	noncoding	Benign
5	42710998	G	A	G42710998A	GHR	NM_000163.5(GHR):c.619-209G>A	noncoding	Benign
5	42711179	A	G	A42711179G	GHR	NM_000163.5(GHR):c.619-28A>G	noncoding	Benign/Likely_benign
5	42717890	A	G	A42717890G	GHR	NM_000163.5(GHR):c.876-162A>G	noncoding	Benign
5	42718233	G	A	G42718233A	GHR	NM_000163.5(GHR):c.945+112G>A	noncoding	Benign
5	42718320	T	C	T42718320C	GHR	NM_000163.5(GHR):c.946-133T>C	noncoding	Benign
5	42718502	A	G	A42718502G	GHR	NM_000163.5(GHR):c.995A>G:p.Tyr332Cys	coding	Benign
5	43294090	C	T	C43294090T	HMGCS1	NM_001098272.3(HMGCS1):c.1149G>A:p.Leu383=	coding	Benign
5	43609170	T	C	T43609170C	NNT	NM_182977.3(NNT):c.-26T>C	noncoding	Benign
5	43609241	C	T	C43609241T	NNT	NM_182977.3(NNT):c.46C>T:p.Leu16=	coding	Benign
5	43609324	G	C	G43609324C	NNT	NM_182977.3(NNT):c.129G>C:p.Trp43Cys	coding	Benign
5	43612944	A	G	A43612944G	NNT	NM_182977.3(NNT):c.188A>G:p.Lys63Arg	coding	Benign
5	43644340	G	A	G43644340A	NNT	NM_182977.3(NNT):c.1098+15G>A	noncoding	Benign
5	43651726	T	G	T43651726G	NNT	NM_182977.3(NNT):c.1718-13T>G	noncoding	Benign
5	43653141	C	T	C43653141T	NNT	NM_182977.3(NNT):c.1987C>T:p.Leu663Phe	coding	Benign
5	43655922	T	C	T43655922C	NNT	NM_182977.3(NNT):c.2142T>C:p.Ala714=	coding	Benign
5	43659367	A	G	A43659367G	NNT	NM_182977.3(NNT):c.2634+17A>G	noncoding	Benign
5	43675510	G	T	G43675510T	NNT	NM_182977.3(NNT):c.2635-1G>T	noncoding	Pathogenic
5	44304990	T	A	T44304990A	FGF10	NM_004465.1(FGF10):c.*5A>T	noncoding	Benign/Likely_benign
5	44305413	T	A	T44305413A	FGF10	NM_004465.2(FGF10):c.430-221A>T	noncoding	Benign
5	44310390	A	T	A44310390T	FGF10	NM_004465.2(FGF10):c.429+37T>A	noncoding	Benign
5	44365443	C	A	C44365443A	FGF10	NM_004465.2(FGF10):c.325+22915G>T	noncoding	Benign
5	44385313	G	A	G44385313A	FGF10	NM_004465.2(FGF10):c.325+3045C>T	noncoding	Benign
5	44388343	G	T	G44388343T	FGF10	NM_004465.2(FGF10):c.325+15C>A	noncoding	Benign
5	44388493	C	A	C44388493A	FGF10	NM_004465.2(FGF10):c.190G>T:p.Gly64Ter	coding	Pathogenic
5	44388715	C	T	C44388715T	FGF10	NM_004465.2(FGF10):c.-33G>A	noncoding	Benign
5	45303570	T	C	T45303570C	HCN1	NM_021072.4(HCN1):c.1618+29A>G	noncoding	Benign
5	45353491	T	C	T45353491C	HCN1	NM_021072.4(HCN1):c.1231-245A>G	noncoding	Benign
5	45396388	T	C	T45396388C	HCN1	NM_021072.4(HCN1):c.1230+104A>G	noncoding	Benign
5	45396538	G	C	G45396538C	HCN1	NM_021072.4(HCN1):c.1184C>G:p.Ala395Gly	coding	Pathogenic
5	45396550	C	A	C45396550A	HCN1	NM_021072.4(HCN1):c.1172G>T:p.Gly391Val	coding	Pathogenic
5	45396553	A	G	A45396553G	HCN1	NM_021072.4(HCN1):c.1169T>C:p.Val390Ala	coding	Pathogenic
5	45396576	C	T	C45396576T	HCN1	NM_021072.4(HCN1):c.1146G>A:p.Gly382_Ala383=	coding	Benign
5	45396724	T	C	T45396724C	HCN1	NM_021072.4(HCN1):c.1012-14A>G	noncoding	Benign/Likely_benign
5	45396924	T	C	T45396924C	HCN1	NM_021072.4(HCN1):c.1012-214A>G	noncoding	Benign
5	45645297	T	G	T45645297G	HCN1	NM_021072.4(HCN1):c.737A>C:p.Glu246Ala	coding	Pathogenic
5	45645736	A	T	A45645736T	HCN1	NM_021072.4(HCN1):c.426-128T>A	noncoding	Benign
5	45695835	G	A	G45695835A	HCN1	NM_021072.4(HCN1):c.259C>T:p.Pro87Ser	coding	Benign/Likely_benign
5	45696148	C	A	C45696148A	HCN1	NM_021072.4(HCN1):c.-55G>T	noncoding	Benign
5	52989247	C	G	C52989247G	ITGA2	Single_allele	noncoding	Benign
5	52989268	G	T	G52989268T	ITGA2	Single_allele	noncoding	Benign
5	52989287	T	C	T52989287C	ITGA2	Single_allele	noncoding	Benign
5	52989837	G	C	G52989837C	ITGA2	NM_002203.4(ITGA2):c.64+305G>C	noncoding	Benign
5	53026539	G	A	G53026539A	ITGA2	NM_002203.4(ITGA2):c.65-209G>A	noncoding	Benign
5	53026891	G	T	G53026891T	ITGA2	NM_002203.4(ITGA2):c.185+23G>T	noncoding	Benign
5	53041926	A	G	A53041926G	ITGA2	NM_002203.4(ITGA2):c.186-186A>G	noncoding	Benign
5	53041953	T	C	T53041953C	ITGA2	NM_002203.4(ITGA2):c.186-159T>C	noncoding	Benign
5	53042078	C	T	C53042078T	ITGA2	NM_002203.4(ITGA2):c.186-34C>T	noncoding	Benign
5	53042253	T	G	T53042253G	ITGA2	NM_002203.4(ITGA2):c.295+32T>G	noncoding	Benign
5	53042411	G	A	G53042411A	ITGA2	NM_002203.4(ITGA2):c.295+190G>A	noncoding	Benign
5	53042446	T	C	T53042446C	ITGA2	NM_002203.4(ITGA2):c.295+225T>C	noncoding	Benign
5	53045234	A	G	A53045234G	ITGA2	NM_002203.4(ITGA2):c.387+142A>G	noncoding	Benign
5	53045280	T	G	T53045280G	ITGA2	NM_002203.4(ITGA2):c.387+188T>G	noncoding	Benign
5	53048071	C	T	C53048071T	ITGA2	NM_002203.4(ITGA2):c.388-292C>T	noncoding	Benign
5	53048216	G	A	G53048216A	ITGA2	NM_002203.4(ITGA2):c.388-147G>A	noncoding	Benign
5	53048950	G	A	G53048950A	ITGA2	NM_002203.4(ITGA2):c.630+180G>A	noncoding	Benign
5	53049007	C	T	C53049007T	ITGA2	NM_002203.4(ITGA2):c.630+237C>T	noncoding	Benign
5	53051731	G	A	G53051731A	ITGA2	NM_002203.4(ITGA2):c.779+172G>A	noncoding	Benign
5	53055352	A	G	A53055352G	ITGA2	NM_002203.4(ITGA2):c.780-186A>G	noncoding	Benign
5	53055406	C	T	C53055406T	ITGA2	NM_002203.4(ITGA2):c.780-132C>T	noncoding	Benign
5	53055412	A	G	A53055412G	ITGA2	NM_002203.4(ITGA2):c.780-126A>G	noncoding	Benign
5	53055916	G	A	G53055916A	ITGA2	NM_002203.4(ITGA2):c.931-68G>A	noncoding	Benign
5	53057783	A	G	A53057783G	ITGA2	NM_002203.4(ITGA2):c.1097-242A>G	noncoding	Benign
5	53058273	A	T	A53058273T	ITGA2	NM_002203.4(ITGA2):c.1173+172A>T	noncoding	Benign
5	53059686	G	A	G53059686A	ITGA2	NM_002203.4(ITGA2):c.1174-188G>A	noncoding	Benign
5	53059736	A	G	A53059736G	ITGA2	NM_002203.4(ITGA2):c.1174-138A>G	noncoding	Benign
5	53060176	C	T	C53060176T	ITGA2	NM_002203.4(ITGA2):c.1312+164C>T	noncoding	Benign
5	53060862	T	C	T53060862C	ITGA2	NM_002203.4(ITGA2):c.1313-39T>C	noncoding	Benign
5	53060871	T	G	T53060871G	ITGA2	NM_002203.4(ITGA2):c.1313-30T>G	noncoding	Benign
5	53065389	A	G	A53065389G	ITGA2	NM_002203.4(ITGA2):c.1806+274A>G	noncoding	Benign
5	53066935	A	T	A53066935T	ITGA2	NM_002203.4(ITGA2):c.1944-183A>T	noncoding	Benign
5	53070308	G	A	G53070308A	ITGA2	NM_002203.4(ITGA2):c.2235+48G>A	noncoding	Benign
5	53070332	G	A	G53070332A	ITGA2	NM_002203.4(ITGA2):c.2235+72G>A	noncoding	Benign
5	53070454	G	A	G53070454A	ITGA2	NM_002203.4(ITGA2):c.2235+194G>A	noncoding	Benign
5	53070506	T	C	T53070506C	ITGA2	NM_002203.4(ITGA2):c.2235+246T>C	noncoding	Benign
5	53070551	A	G	A53070551G	ITGA2	NM_002203.4(ITGA2):c.2235+291A>G	noncoding	Benign
5	53071719	T	C	T53071719C	ITGA2	NM_002203.4(ITGA2):c.2236-219T>C	noncoding	Benign
5	53071836	A	T	A53071836T	ITGA2	NM_002203.4(ITGA2):c.2236-102A>T	noncoding	Benign
5	53071885	T	C	T53071885C	ITGA2	NM_002203.4(ITGA2):c.2236-53T>C	noncoding	Benign
5	53072126	G	T	G53072126T	ITGA2	NM_002203.4(ITGA2):c.2346+78G>T	noncoding	Benign
5	53072536	A	C	A53072536C	ITGA2	NM_002203.4(ITGA2):c.2347-77A>C	noncoding	Benign
5	53072716	T	C	T53072716C	ITGA2	NM_002203.4(ITGA2):c.2429+21T>C	noncoding	Benign
5	53072764	C	T	C53072764T	ITGA2	NM_002203.4(ITGA2):c.2429+69C>T	noncoding	Benign
5	53073092	T	A	T53073092A	ITGA2	NM_002203.4(ITGA2):c.2430-26T>A	noncoding	Benign
5	53073363	A	G	A53073363G	ITGA2	NM_002203.4(ITGA2):c.2571+104A>G	noncoding	Benign
5	53073505	A	G	A53073505G	ITGA2	NM_002203.4(ITGA2):c.2571+246A>G	noncoding	Benign
5	53074344	G	A	G53074344A	ITGA2	NM_002203.4(ITGA2):c.2572-41G>A	noncoding	Benign
5	53074602	G	C	G53074602C	ITGA2	NM_002203.4(ITGA2):c.2664+125G>C	noncoding	Benign
5	53074902	G	T	G53074902T	ITGA2	NM_002203.4(ITGA2):c.2665-159G>T	noncoding	Benign
5	53075540	C	T	C53075540T	ITGA2	NM_002203.4(ITGA2):c.2825+236C>T	noncoding	Benign
5	53081351	T	A	T53081351A	ITGA2	NM_002203.4(ITGA2):c.3040-241T>A	noncoding	Benign
5	53083126	G	A	G53083126A	ITGA2	NM_002203.4(ITGA2):c.3145-214G>A	noncoding	Benign
5	53083189	G	A	G53083189A	ITGA2	NM_002203.4(ITGA2):c.3145-151G>A	noncoding	Benign
5	53086825	T	C	T53086825C	ITGA2	NM_002203.4(ITGA2):c.3259-127T>C	noncoding	Benign
5	53086918	A	T	A53086918T	ITGA2	NM_002203.4(ITGA2):c.3259-34A>T	noncoding	Benign
5	53087095	C	T	C53087095T	ITGA2	NM_002203.4(ITGA2):c.3348+54C>T	noncoding	Benign
5	53090401	C	T	C53090401T	ITGA2	NM_002203.4(ITGA2):c.3466-118C>T	noncoding	Benign
5	53098609	T	C	T53098609C	MOCS2	NM_004531.5(MOCS2):c.560A>G:p.Asn187Ser	coding	Benign
5	53101358	C	T	C53101358T	MOCS2	NM_004531.5(MOCS2):c.377+1G>A	noncoding	Pathogenic/Likely_pathogenic
5	53101418	A	G	A53101418G	MOCS2	NM_004531.5(MOCS2):c.318T>C:p.Ile106=	coding	Benign/Likely_benign
5	53101481	T	C	T53101481C	MOCS2	NM_004531.5(MOCS2):c.255A>G:p.Lys85=	coding	Benign/Likely_benign
5	53101615	T	C	T53101615C	MOCS2	NM_004531.5(MOCS2):c.227-106A>G	noncoding	Benign
5	53101710	T	C	T53101710C	MOCS2	NM_004531.5(MOCS2):c.227-201A>G	noncoding	Benign
5	53102175	T	C	T53102175C	MOCS2	NM_004531.5(MOCS2):c.148A>G:p.Thr50Ala	coding	Benign/Likely_benign
5	53102219	T	C	T53102219C	MOCS2	NM_004531.5(MOCS2):c.104A>G:p.Asp35Gly	coding	Benign/Likely_benign
5	53108457	T	G	T53108457G	MOCS2	NM_004531.5(MOCS2):c.-48+65A>C	noncoding	Benign
5	53108482	C	T	C53108482T	MOCS2	NM_004531.5(MOCS2):c.-48+40G>A	noncoding	Benign
5	53108556	G	A	G53108556A	MOCS2	NM_176806.4(MOCS2):c.106C>T:p.Gln36Ter	coding	Pathogenic
5	53108629	A	C	A53108629C	MOCS2	NM_176806.4(MOCS2):c.33T>G:p.Tyr11Ter	coding	Pathogenic
5	53109602	T	A	T53109602A	MOCS2	NM_004531.5(MOCS2):c.-521A>T	coding	Benign
5	53109729	T	C	T53109729C	MOCS2	NM_176806.4(MOCS2):c.1A>G:p.Met1Val	coding	Pathogenic
5	53560400	A	T	A53560400T	NDUFS4	Single_allele	noncoding	Benign
5	53560886	A	G	A53560886G	NDUFS4	NM_002495.4(NDUFS4):c.98+126A>G	noncoding	Benign
5	53646029	C	T	C53646029T	NDUFS4	NM_002495.4(NDUFS4):c.178-204C>T	noncoding	Benign
5	53646406	G	A	G53646406A	NDUFS4	NM_002495.4(NDUFS4):c.350+1G>A	coding	Pathogenic
5	53646410	G	A	G53646410A	NDUFS4	NM_002495.4(NDUFS4):c.350+5G>A	noncoding	Pathogenic
5	53658450	G	A	G53658450A	NDUFS4	NM_002495.4(NDUFS4):c.351-101G>A	noncoding	Benign
5	54455412	C	T	C54455412T	HSPB3	Single_allele	noncoding	Benign
5	54455434	A	G	A54455434G	HSPB3	Single_allele	noncoding	Benign
5	55220230	A	T	A55220230T	MCIDAS	NM_001190787.3(MCIDAS):c.*136T>A	noncoding	Benign
5	55220358	A	G	A55220358G	MCIDAS	NM_001190787.3(MCIDAS):c.*8T>C	noncoding	Benign
5	55220924	C	G	C55220924G	MCIDAS	NM_001190787.3(MCIDAS):c.717+92G>C	noncoding	Benign
5	55222007	C	G	C55222007G	MCIDAS	NM_001190787.3(MCIDAS):c.606+169G>C	noncoding	Benign
5	55222832	G	A	G55222832A	MCIDAS	NM_001190787.3(MCIDAS):c.382+119C>T	noncoding	Benign
5	55222859	T	C	T55222859C	MCIDAS	NM_001190787.3(MCIDAS):c.382+92A>G	noncoding	Benign
5	55226950	G	T	G55226950T	MCIDAS	NM_001190787.3(MCIDAS):c.121-19C>A	noncoding	Benign
5	55227577	C	G	C55227577G	MCIDAS	Single_allele	noncoding	Benign
5	55227592	A	G	A55227592G	MCIDAS	Single_allele	noncoding	Benign
5	55232762	G	A	G55232762A	CCNO	NM_021147.5(CCNO):c.382-216C>T	coding	Benign
5	55233217	G	A	G55233217A	CCNO	NM_021147.5(CCNO):c.307C>T:p.Gln103Ter	coding	Pathogenic
5	55233588	C	A	C55233588A	CCNO	NM_021147.5(CCNO):c.-65G>T	noncoding	Benign
5	55233630	C	G	C55233630G	CCNO	Single_allele	noncoding	Benign
5	55233776	G	A	G55233776A	CCNO	Single_allele	noncoding	Benign
5	55233802	A	C	A55233802C	CCNO	Single_allele	noncoding	Benign
5	55859574	C	T	C55859574T	IL31RA	NM_139017.7(IL31RA):c.129C>T:p.Pro43=	coding	Benign
5	55883224	A	T	A55883224T	IL31RA	NM_139017.7(IL31RA):c.606+29A>T	noncoding	Benign
5	55908359	T	G	T55908359G	IL31RA	NM_139017.7(IL31RA):c.1449T>G:p.Gly483=	coding	Benign
5	55916618	T	G	T55916618G	IL31RA	NM_139017.7(IL31RA):c.1819-26T>G	noncoding	Benign
5	55941103	T	C	T55941103C	IL6ST	NM_002184.4(IL6ST):c.2736A>G:p.Gln912=	coding	Benign
5	55941499	G	A	G55941499A	IL6ST	NM_002184.4(IL6ST):c.2340C>T:p.Ser780=	coding	Benign
5	55941562	A	C	A55941562C	IL6ST	NM_002184.4(IL6ST):c.2277T>G:p.Tyr759Ter	coding	Pathogenic
5	55951925	T	C	T55951925C	IL6ST	NM_002184.4(IL6ST):c.1699+4A>G	noncoding	Pathogenic
5	55952307	C	T	C55952307T	IL6ST	NM_002184.4(IL6ST):c.1495G>A:p.Val499Ile	coding	Benign
5	55954899	A	G	A55954899G	IL6ST	NM_002184.4(IL6ST):c.1361T>C:p.Ile454Thr	coding	Benign
5	55954959	G	C	G55954959C	IL6ST	NM_002184.4(IL6ST):c.1301C>G:p.Pro434Arg	coding	Benign
5	55956103	G	C	G55956103C	IL6ST	NM_002184.4(IL6ST):c.1189C>G:p.Leu397Val	coding	Benign
5	55964237	C	A	C55964237A	IL6ST	NM_002184.4(IL6ST):c.567G>T:p.Val189=	coding	Benign
5	55968272	G	A	G55968272A	IL6ST	NM_002184.4(IL6ST):c.491+4C>T	noncoding	Benign
5	55968314	T	C	T55968314C	IL6ST	NM_002184.4(IL6ST):c.453A>G:p.Glu151=	coding	Benign
5	55968325	C	G	C55968325G	IL6ST	NM_002184.4(IL6ST):c.442G>C:p.Gly148Arg	coding	Benign
5	55968364	T	C	T55968364C	IL6ST	NM_002184.4(IL6ST):c.403A>G:p.Ile135Val	coding	Benign
5	55969694	T	C	T55969694C	IL6ST	NM_002184.4(IL6ST):c.226A>G:p.Lys76Glu	coding	Benign
5	55976257	G	C	G55976257C	IL6ST	NM_002184.4(IL6ST):c.22C>G:p.Leu8Val	coding	Benign
5	56814857	C	A	C56814857A	MAP3K1	Single_allele	noncoding	Benign
5	56815030	G	C	G56815030C	MAP3K1	Single_allele	noncoding	Benign
5	56815110	G	A	G56815110A	MAP3K1	Single_allele	noncoding	Benign
5	56815110	G	C	G56815110C	MAP3K1	Single_allele	noncoding	Benign
5	56815165	G	T	G56815165T	MAP3K1	Single_allele	noncoding	Benign
5	56815260	A	C	A56815260C	MAP3K1	Single_allele	noncoding	Benign
5	56815588	G	A	G56815588A	MAP3K1	NM_005921.2(MAP3K1):c.15G>A:p.Ala5=	coding	Benign
5	56815618	G	A	G56815618A	MAP3K1	NM_005921.2(MAP3K1):c.45G>A:p.Pro15=	coding	Benign
5	56815877	G	A	G56815877A	MAP3K1	NM_005921.2(MAP3K1):c.304G>A:p.Gly102Arg	coding	Benign
5	56815954	G	T	G56815954T	MAP3K1	NM_005921.2(MAP3K1):c.381G>T:p.Ser127=	coding	Benign
5	56816100	C	T	C56816100T	MAP3K1	NM_005921.2(MAP3K1):c.482+45C>T	noncoding	Benign
5	56816118	C	T	C56816118T	MAP3K1	NM_005921.2(MAP3K1):c.482+63C>T	noncoding	Benign
5	56826517	A	G	A56826517G	MAP3K1	NM_005921.2(MAP3K1):c.482+10462A>G	noncoding	Benign
5	56857565	T	C	T56857565C	MAP3K1	NM_005921.2(MAP3K1):c.633+815T>C	noncoding	Benign
5	56864915	G	A	G56864915A	MAP3K1	NM_005921.2(MAP3K1):c.1016G>A:p.Arg339Gln	coding	Pathogenic
5	56866148	C	T	C56866148T	MAP3K1	NM_005921.2(MAP3K1):c.1301+171C>T	noncoding	Benign
5	56874986	C	G	C56874986G	MAP3K1	NM_005921.2(MAP3K1):c.1687-46C>G	noncoding	Benign
5	56879399	A	G	A56879399G	MAP3K1	NM_005921.2(MAP3K1):c.2087+298A>G	noncoding	Benign
5	56880479	T	C	T56880479C	MAP3K1	NM_005921.2(MAP3K1):c.2088-232T>C	noncoding	Benign
5	56880619	C	T	C56880619T	MAP3K1	NM_005921.2(MAP3K1):c.2088-92C>T	noncoding	Benign
5	56880818	T	G	T56880818G	MAP3K1	NM_005921.2(MAP3K1):c.2179+16T>G	noncoding	Benign/Likely_benign
5	56881321	A	G	A56881321G	MAP3K1	NM_005921.2(MAP3K1):c.2369+49A>G	noncoding	Benign
5	56881542	T	C	T56881542C	MAP3K1	NM_005921.2(MAP3K1):c.2370-28T>C	noncoding	Benign
5	56881788	T	C	T56881788C	MAP3K1	NM_005921.2(MAP3K1):c.2588T>C:p.Val863Ala	coding	Benign
5	56882284	A	G	A56882284G	MAP3K1	NM_005921.2(MAP3K1):c.3084A>G:p.Gln1028=	coding	Benign
5	56883514	G	A	G56883514A	MAP3K1	NM_005921.2(MAP3K1):c.3667-13G>A	noncoding	Benign
5	56883520	T	C	T56883520C	MAP3K1	NM_005921.2(MAP3K1):c.3667-7T>C	noncoding	Benign
5	56883523	G	T	G56883523T	MAP3K1	NM_005921.2(MAP3K1):c.3667-4G>T	noncoding	Benign/Likely_benign
5	56884653	A	G	A56884653G	MAP3K1	NM_005921.2(MAP3K1):c.3820-11A>G	noncoding	Benign
5	56885090	A	G	A56885090G	MAP3K1	NM_005921.2(MAP3K1):c.3982+264A>G	noncoding	Benign
5	56887715	C	T	C56887715T	MAP3K1	NM_005921.2(MAP3K1):c.4257+195C>T	noncoding	Benign
5	56887810	G	C	G56887810C	MAP3K1	NM_005921.2(MAP3K1):c.4257+290G>C	noncoding	Benign
5	56887916	T	G	T56887916G	MAP3K1	NM_005921.2(MAP3K1):c.4258-310T>G	noncoding	Benign
5	56888114	C	G	C56888114G	MAP3K1	NM_005921.2(MAP3K1):c.4258-112C>G	noncoding	Benign
5	56893204	A	G	A56893204G	MAP3K1	NM_005921.2(MAP3K1):c.4390-327A>G	noncoding	Benign
5	56893423	C	T	C56893423T	MAP3K1	NM_005921.2(MAP3K1):c.4390-108C>T	noncoding	Benign
5	56893557	G	T	G56893557T	MAP3K1	NM_005921.2(MAP3K1):c.4416G>T:p.Ser1472=	coding	Benign
5	58975413	T	G	T58975413G	PDE4D	NM_001104631.2(PDE4D):c.2013+244A>C	noncoding	Benign
5	58975869	C	T	C58975869T	PDE4D	NM_001104631.2(PDE4D):c.1831-30G>A	noncoding	Benign
5	58975886	T	A	T58975886A	PDE4D	NM_001104631.2(PDE4D):c.1831-47A>T	noncoding	Benign
5	58976289	G	A	G58976289A	PDE4D	NM_001104631.2(PDE4D):c.1830+61C>T	noncoding	Benign
5	58976534	C	T	C58976534T	PDE4D	NM_001104631.2(PDE4D):c.1708-62G>A	noncoding	Benign
5	58976757	A	G	A58976757G	PDE4D	NM_001104631.2(PDE4D):c.1708-285T>C	noncoding	Benign
5	58976877	A	G	A58976877G	PDE4D	NM_001104631.2(PDE4D):c.1707+314T>C	noncoding	Benign
5	58977621	T	C	T58977621C	PDE4D	NM_001104631.2(PDE4D):c.1553-276A>G	noncoding	Benign
5	58988381	C	T	C58988381T	PDE4D	NM_001104631.2(PDE4D):c.1552+112G>A	noncoding	Benign
5	58988456	G	A	G58988456A	PDE4D	NM_001104631.2(PDE4D):c.1552+37C>T	noncoding	Benign
5	58988647	A	T	A58988647T	PDE4D	NM_001104631.2(PDE4D):c.1453-55T>A	noncoding	Benign
5	58989854	G	A	G58989854A	PDE4D	NM_001104631.2(PDE4D):c.1353C>T:p.Leu451=	coding	Benign
5	58990787	G	C	G58990787C	PDE4D	NM_001104631.2(PDE4D):c.1287+17C>G	noncoding	Benign
5	58992177	G	A	G58992177A	PDE4D	NM_001104631.2(PDE4D):c.1016-173C>T	noncoding	Benign
5	58993219	G	T	G58993219T	PDE4D	NM_001104631.2(PDE4D):c.1015+153C>A	noncoding	Benign
5	58993507	A	G	A58993507G	PDE4D	NM_001104631.2(PDE4D):c.922-42T>C	noncoding	Benign
5	58993690	A	C	A58993690C	PDE4D	NM_001104631.2(PDE4D):c.922-225T>G	noncoding	Benign
5	58999187	A	G	A58999187G	PDE4D	NM_001104631.2(PDE4D):c.922-5722T>C	noncoding	Benign
5	59038818	A	G	A59038818G	PDE4D	NM_001104631.2(PDE4D):c.921+41T>C	noncoding	Benign
5	59039321	C	T	C59039321T	PDE4D	NM_001104631.2(PDE4D):c.809-350G>A	coding	Benign
5	59039465	G	T	G59039465T	PDE4D	NM_001104631.2(PDE4D):c.809-494C>A	coding	Benign
5	59039728	C	T	C59039728T	PDE4D	NM_001104631.2(PDE4D):c.809-757G>A	noncoding	Benign
5	59041654	T	G	T59041654G	PDE4D	NM_001104631.2(PDE4D):c.809-2683A>C	noncoding	Benign
5	59180291	T	C	T59180291C	PDE4D	NM_001104631.2(PDE4D):c.808+304A>G	noncoding	Benign
5	59180399	G	A	G59180399A	PDE4D	NM_001104631.2(PDE4D):c.808+196C>T	noncoding	Benign
5	59180406	G	A	G59180406A	PDE4D	NM_001104631.2(PDE4D):c.808+189C>T	noncoding	Benign
5	59180461	G	T	G59180461T	PDE4D	NM_001104631.2(PDE4D):c.808+134C>A	noncoding	Benign
5	59180575	A	T	A59180575T	PDE4D	NM_001104631.2(PDE4D):c.808+20T>A	noncoding	Benign/Likely_benign
5	59185463	C	T	C59185463T	PDE4D	NM_001104631.2(PDE4D):c.685-201G>A	noncoding	Benign
5	59193392	G	A	G59193392A	PDE4D	NM_001104631.2(PDE4D):c.684+108C>T	noncoding	Benign
5	59193558	G	A	G59193558A	PDE4D	NM_001104631.2(PDE4D):c.648-22C>T	noncoding	Benign
5	59215675	G	A	G59215675A	PDE4D	NM_001104631.2(PDE4D):c.647+102C>T	noncoding	Benign
5	59215677	G	C	G59215677C	PDE4D	NM_001104631.2(PDE4D):c.647+100C>G	noncoding	Benign
5	59275791	A	G	A59275791G	PDE4D	NM_001104631.2(PDE4D):c.456-59823T>C	coding	Benign
5	59275912	G	T	G59275912T	PDE4D	NM_001104631.2(PDE4D):c.456-59944C>A	coding	Benign
5	59275967	T	C	T59275967C	PDE4D	NM_001104631.2(PDE4D):c.456-59999A>G	coding	Benign
5	59276089	G	A	G59276089A	PDE4D	NM_001104631.2(PDE4D):c.456-60121C>T	coding	Benign
5	59276117	G	C	G59276117C	PDE4D	NM_001104631.2(PDE4D):c.456-60149C>G	coding	Benign
5	59276139	A	G	A59276139G	PDE4D	NM_001104631.2(PDE4D):c.456-60171T>C	noncoding	Benign
5	59276175	A	G	A59276175G	PDE4D	NM_001104631.2(PDE4D):c.456-60207T>C	noncoding	Benign
5	59430294	C	T	C59430294T	PDE4D	NM_001104631.2(PDE4D):c.456-214326G>A	noncoding	Benign
5	59586276	C	T	C59586276T	PDE4D	NM_001104631.2(PDE4D):c.455+306892G>A	noncoding	Benign
5	59586503	C	T	C59586503T	PDE4D	NM_001104631.2(PDE4D):c.455+306665G>A	noncoding	Benign
5	59893126	T	C	T59893126C	PDE4D	NM_001104631.2(PDE4D):c.455+42A>G	noncoding	Benign
5	59893137	C	T	C59893137T	PDE4D	NM_001104631.2(PDE4D):c.455+31G>A	noncoding	Benign
5	59893157	T	A	T59893157A	PDE4D	NM_001104631.2(PDE4D):c.455+11A>T	noncoding	Benign
5	59893239	C	T	C59893239T	PDE4D	NM_001104631.2(PDE4D):c.384G>A:p.Val128=	coding	Benign
5	59893878	A	G	A59893878G	PDE4D	NM_001165899.2(PDE4D):c.272+94610T>C	noncoding	Benign
5	59988189	C	T	C59988189T	PDE4D	NM_001165899.2(PDE4D):c.272+299G>A	noncoding	Benign
5	59988243	G	T	G59988243T	PDE4D	NM_001165899.2(PDE4D):c.272+245C>A	noncoding	Benign
5	59988870	T	C	T59988870C	PDE4D	NM_001165899.2(PDE4D):c.43-153A>G	noncoding	Benign
5	60874731	T	C	T60874731C	ERCC8	NM_000082.4(ERCC8):c.1123-48A>G	noncoding	Benign
5	60874778	T	C	T60874778C	ERCC8	NM_000082.4(ERCC8):c.1123-95A>G	noncoding	Benign
5	60890791	C	T	C60890791T	ERCC8	NM_000082.4(ERCC8):c.1041+98G>A	noncoding	Benign
5	60890888	C	A	C60890888A	ERCC8	NM_000082.4(ERCC8):c.1041+1G>T	noncoding	Pathogenic
5	60890936	C	A	C60890936A	ERCC8	NM_000082.4(ERCC8):c.994G>T:p.Gly332Ter	coding	Pathogenic
5	60891016	G	C	G60891016C	ERCC8	NM_000082.4(ERCC8):c.914C>G:p.Ser305Ter	coding	Pathogenic
5	60891074	T	A	T60891074A	ERCC8	NM_000082.4(ERCC8):c.856A>T:p.Lys286Ter	coding	Pathogenic
5	60891148	C	A	C60891148A	ERCC8	NM_000082.4(ERCC8):c.844-62G>T	noncoding	Benign
5	60898275	C	A	C60898275A	ERCC8	NM_000082.4(ERCC8):c.843+1G>T	noncoding	Pathogenic/Likely_pathogenic
5	60898275	C	G	C60898275G	ERCC8	NM_000082.4(ERCC8):c.843+1G>C	noncoding	Pathogenic
5	60898303	C	T	C60898303T	ERCC8	NM_000082.4(ERCC8):c.816G>A:p.Trp272Ter	coding	Pathogenic
5	60899792	C	T	C60899792T	ERCC8	NM_000082.4(ERCC8):c.618-65G>A	noncoding	Benign
5	60899950	C	T	C60899950T	ERCC8	NM_000082.4(ERCC8):c.618-223G>A	noncoding	Benign
5	60902478	C	T	C60902478T	ERCC8	NM_000082.4(ERCC8):c.581G>A:p.Trp194Ter	coding	Pathogenic
5	60903374	C	T	C60903374T	ERCC8	NM_000082.4(ERCC8):c.550+274G>A	coding	Benign
5	60903536	C	T	C60903536T	ERCC8	NM_000082.4(ERCC8):c.550+112G>A	coding	Benign
5	60903693	G	A	G60903693A	ERCC8	NM_000082.4(ERCC8):c.505C>T:p.Gln169Ter	coding	Pathogenic
5	60903733	G	A	G60903733A	ERCC8	NM_000082.4(ERCC8):c.482-17C>T	noncoding	Benign/Likely_benign
5	60905166	G	A	G60905166A	ERCC8	NM_000082.4(ERCC8):c.400-293C>T	noncoding	Benign
5	60918283	C	T	C60918283T	ERCC8	NM_000082.4(ERCC8):c.381G>A:p.Trp127Ter	coding	Pathogenic
5	60918308	G	T	G60918308T	ERCC8	NM_000082.4(ERCC8):c.356C>A:p.Ser119Ter	coding	Pathogenic
5	60918676	T	A	T60918676A	ERCC8	NM_000082.4(ERCC8):c.276-288A>T	noncoding	Benign
5	60921824	A	C	A60921824C	ERCC8	NM_000082.4(ERCC8):c.275+230T>G	noncoding	Benign
5	60922127	T	A	T60922127A	ERCC8	NM_000082.4(ERCC8):c.202A>T:p.Ile68Phe	coding	Pathogenic
5	60922147	G	C	G60922147C	ERCC8	NM_000082.4(ERCC8):c.182C>G:p.Ser61Ter	coding	Pathogenic/Likely_pathogenic
5	60922155	G	T	G60922155T	ERCC8	NM_000082.4(ERCC8):c.174C>A:p.Tyr58Ter	coding	Pathogenic
5	60927914	A	G	A60927914G	ERCC8	NM_000082.4(ERCC8):c.173+950T>C	noncoding	Benign
5	60928029	C	G	C60928029G	ERCC8	NM_000082.4(ERCC8):c.173+835G>C	noncoding	Benign
5	60928863	C	T	C60928863T	ERCC8	NM_000082.4(ERCC8):c.173+1G>A	noncoding	Pathogenic/Likely_pathogenic
5	60929087	C	T	C60929087T	ERCC8	NM_000082.4(ERCC8):c.78-128G>A	noncoding	Benign
5	61072954	T	G	T61072954G	NDUFAF2	NM_174889.5(NDUFAF2):c.128-171T>G	noncoding	Benign
5	61073055	C	T	C61073055T	NDUFAF2	NM_174889.5(NDUFAF2):c.128-70C>T	noncoding	Benign
5	61098879	T	A	T61098879A	NDUFAF2	NM_174889.5(NDUFAF2):c.218-113T>A	noncoding	Benign
5	61153120	G	A	G61153120A	NDUFAF2	Single_allele	noncoding	Benign
5	61332326	G	A	G61332326A	ZSWIM6	NM_020928.2(ZSWIM6):c.54G>A:p.Pro18=	coding	Benign
5	61332446	G	C	G61332446C	ZSWIM6	NM_020928.2(ZSWIM6):c.174G>C:p.Gly58=	coding	Benign/Likely_benign
5	61332494	C	G	C61332494G	ZSWIM6	NM_020928.2(ZSWIM6):c.222C>G:p.Pro74=	coding	Benign
5	61332494	C	T	C61332494T	ZSWIM6	NM_020928.2(ZSWIM6):c.222C>T:p.Pro74=	coding	Benign
5	61332515	G	T	G61332515T	ZSWIM6	NM_020928.2(ZSWIM6):c.243G>T:p.Ala81=	coding	Benign
5	61332584	G	T	G61332584T	ZSWIM6	NM_020928.2(ZSWIM6):c.312G>T:p.Pro104=	coding	Benign
5	61332587	G	T	G61332587T	ZSWIM6	NM_020928.2(ZSWIM6):c.315G>T:p.Val105=	coding	Benign
5	61332623	C	T	C61332623T	ZSWIM6	NM_020928.2(ZSWIM6):c.351C>T:p.Ser117=	coding	Benign
5	61332764	G	C	G61332764C	ZSWIM6	NM_020928.2(ZSWIM6):c.492G>C:p.Ala164=	coding	Benign
5	61332854	C	T	C61332854T	ZSWIM6	NM_020928.2(ZSWIM6):c.582C>T:p.Ala194=	coding	Benign/Likely_benign
5	61332908	G	A	G61332908A	ZSWIM6	NM_020928.2(ZSWIM6):c.636G>A:p.Ala212=	coding	Benign
5	61332947	C	T	C61332947T	ZSWIM6	NM_020928.2(ZSWIM6):c.675C>T:p.Val225=	coding	Benign
5	61332999	T	G	T61332999G	ZSWIM6	NM_020928.2(ZSWIM6):c.676+51T>G	noncoding	Benign
5	61491053	C	T	C61491053T	ZSWIM6	NM_020928.2(ZSWIM6):c.1182+119C>T	noncoding	Benign
5	61494210	T	C	T61494210C	ZSWIM6	NM_020928.2(ZSWIM6):c.1183-50T>C	noncoding	Benign
5	61494248	T	C	T61494248C	ZSWIM6	NM_020928.2(ZSWIM6):c.1183-12T>C	noncoding	Benign
5	61521038	T	C	T61521038C	ZSWIM6	NM_020928.2(ZSWIM6):c.1334-225T>C	noncoding	Benign
5	61521248	C	T	C61521248T	ZSWIM6	NM_020928.2(ZSWIM6):c.1334-15C>T	noncoding	Benign/Likely_benign
5	61521401	A	G	A61521401G	ZSWIM6	NM_020928.2(ZSWIM6):c.1472A>G:p.Asn491Ser	coding	Benign
5	61521457	A	G	A61521457G	ZSWIM6	NM_020928.2(ZSWIM6):c.1513+15A>G	noncoding	Benign
5	61525876	C	T	C61525876T	ZSWIM6	NM_020928.2(ZSWIM6):c.1590C>T:p.His530=	coding	Benign
5	61525927	C	T	C61525927T	ZSWIM6	NM_020928.2(ZSWIM6):c.1641C>T:p.Asp547=	coding	Benign
5	61525955	C	T	C61525955T	ZSWIM6	NM_020928.2(ZSWIM6):c.1669C>T:p.Arg557Cys	coding	Benign
5	61525958	G	C	G61525958C	ZSWIM6	NM_020928.2(ZSWIM6):c.1672G>C:p.Gly558Arg	coding	Benign
5	61525992	G	A	G61525992A	ZSWIM6	NM_020928.2(ZSWIM6):c.1690+16G>A	noncoding	Benign
5	61531520	C	A	C61531520A	ZSWIM6	NM_020928.2(ZSWIM6):c.2040C>A:p.Phe680Leu	coding	Benign
5	61531912	T	G	T61531912G	ZSWIM6	NM_020928.2(ZSWIM6):c.2245+187T>G	noncoding	Benign
5	61535306	C	T	C61535306T	ZSWIM6	NM_020928.2(ZSWIM6):c.2246-178C>T	noncoding	Benign
5	61535754	T	G	T61535754G	ZSWIM6	NM_020928.2(ZSWIM6):c.2381+135T>G	noncoding	Benign
5	61538505	C	T	C61538505T	ZSWIM6	NM_020928.2(ZSWIM6):c.2382-309C>T	noncoding	Benign
5	61538862	A	G	A61538862G	ZSWIM6	NM_020928.2(ZSWIM6):c.2430A>G:p.Pro810=	coding	Benign
5	61539194	T	C	T61539194C	ZSWIM6	NM_020928.2(ZSWIM6):c.2539+223T>C	noncoding	Benign
5	61541752	T	C	T61541752C	ZSWIM6	NM_020928.2(ZSWIM6):c.2704-132T>C	noncoding	Benign
5	61541820	C	T	C61541820T	ZSWIM6	NM_020928.2(ZSWIM6):c.2704-64C>T	noncoding	Benign
5	61543457	G	A	G61543457A	ZSWIM6	NM_020928.2(ZSWIM6):c.2788G>A:p.Val930Ile	coding	Benign
5	61543523	A	G	A61543523G	ZSWIM6	NM_020928.2(ZSWIM6):c.2854A>G:p.Ile952Val	coding	Benign
5	61543708	G	A	G61543708A	ZSWIM6	NM_020928.2(ZSWIM6):c.3039G>A:p.Ala1013=	coding	Benign
5	61543723	C	T	C61543723T	ZSWIM6	NM_020928.2(ZSWIM6):c.3054C>T:p.Leu1018=	coding	Benign
5	61543778	A	C	A61543778C	ZSWIM6	NM_020928.2(ZSWIM6):c.3109A>C:p.Met1037Leu	coding	Benign
5	61543788	G	A	G61543788A	ZSWIM6	NM_020928.2(ZSWIM6):c.3119G>A:p.Arg1040His	coding	Benign
5	61544080	C	A	C61544080A	ZSWIM6	NM_020928.2(ZSWIM6):c.3411C>A:p.Pro1137=	coding	Benign
5	62306223	C	T	C62306223T	KIF2A	NM_001098511.3(KIF2A):c.-250C>T	noncoding	Benign
5	62306500	C	G	C62306500G	KIF2A	NM_001098511.3(KIF2A):c.28C>G:p.Gln10Glu	coding	Benign
5	62306507	G	A	G62306507A	KIF2A	NM_001098511.3(KIF2A):c.35G>A:p.Gly12Glu	coding	Benign
5	62306825	C	T	C62306825T	KIF2A	NM_001098511.3(KIF2A):c.64+289C>T	noncoding	Benign
5	62306832	C	T	C62306832T	KIF2A	NM_001098511.3(KIF2A):c.64+296C>T	noncoding	Benign
5	62308377	C	A	C62308377A	KIF2A	NM_001098511.3(KIF2A):c.64+1841C>A	coding	Benign
5	62347942	G	A	G62347942A	KIF2A	NM_001098511.3(KIF2A):c.160-106G>A	noncoding	Benign
5	62348033	A	T	A62348033T	KIF2A	NM_001098511.3(KIF2A):c.160-15A>T	noncoding	Benign
5	62349809	T	C	T62349809C	KIF2A	NM_001098511.3(KIF2A):c.280-257T>C	noncoding	Benign
5	62350043	A	G	A62350043G	KIF2A	NM_001098511.3(KIF2A):c.280-23A>G	noncoding	Benign
5	62352594	G	C	G62352594C	KIF2A	NM_001098511.3(KIF2A):c.341G>C:p.Gly114Ala	coding	Benign
5	62355366	G	T	G62355366T	KIF2A	NM_001098511.3(KIF2A):c.654+112G>T	noncoding	Benign
5	62357587	A	G	A62357587G	KIF2A	NM_001098511.3(KIF2A):c.655-104A>G	noncoding	Benign
5	62358369	A	C	A62358369C	KIF2A	NM_001098511.3(KIF2A):c.872+70A>C	noncoding	Benign
5	62361092	G	A	G62361092A	KIF2A	NM_001098511.3(KIF2A):c.873-150G>A	noncoding	Benign
5	62361495	C	A	C62361495A	KIF2A	NM_001098511.3(KIF2A):c.993C>A:p.Asn331Lys	coding	Benign
5	62361550	A	T	A62361550T	KIF2A	NM_001098511.3(KIF2A):c.1027+21A>T	noncoding	Benign
5	62362569	T	A	T62362569A	KIF2A	NM_001098511.3(KIF2A):c.1119+28T>A	noncoding	Benign
5	62363306	A	G	A62363306G	KIF2A	NM_001098511.3(KIF2A):c.1248A>G:p.Ile416Met	coding	Benign
5	62363761	T	C	T62363761C	KIF2A	NM_001098511.3(KIF2A):c.1329T>C:p.Leu443=	coding	Benign
5	62363988	C	T	C62363988T	KIF2A	NM_001098511.3(KIF2A):c.1467+89C>T	noncoding	Benign
5	62365311	G	A	G62365311A	KIF2A	NM_001098511.3(KIF2A):c.1536G>A:p.Val512=	coding	Benign/Likely_benign
5	62366107	A	G	A62366107G	KIF2A	NM_001098511.3(KIF2A):c.1579-307A>G	noncoding	Benign
5	62366728	A	G	A62366728G	KIF2A	NM_001098511.3(KIF2A):c.1646+247A>G	noncoding	Benign
5	62372315	A	G	A62372315G	KIF2A	NM_001098511.3(KIF2A):c.1647-123A>G	noncoding	Benign
5	62372323	A	C	A62372323C	KIF2A	NM_001098511.3(KIF2A):c.1647-115A>C	noncoding	Benign
5	62372528	C	T	C62372528T	KIF2A	NM_001098511.3(KIF2A):c.1737C>T:p.Asp579=	coding	Benign/Likely_benign
5	62373378	A	T	A62373378T	KIF2A	NM_001098511.3(KIF2A):c.1761-309A>T	noncoding	Benign
5	62377775	A	T	A62377775T	KIF2A	NM_001098511.3(KIF2A):c.2013+13A>T	noncoding	Benign
5	62381084	T	G	T62381084G	KIF2A	NM_001098511.3(KIF2A):c.2014-34T>G	noncoding	Benign
5	63965502	C	T	C63965502T	HTR1A	Single_allele	noncoding	Benign
5	64769116	G	A	G64769116A	CWC27	NM_005869.4(CWC27):c.-31G>A	noncoding	Benign
5	64774742	G	T	G64774742T	CWC27	NM_005869.4(CWC27):c.94G>T:p.Glu32Ter	coding	Pathogenic
5	64783818	A	C	A64783818C	CWC27	NM_005869.4(CWC27):c.253-18A>C	noncoding	Benign
5	64785511	C	T	C64785511T	CWC27	NM_005869.4(CWC27):c.427C>T:p.Arg143Ter	coding	Pathogenic
5	64800228	A	C	A64800228C	CWC27	NM_005869.4(CWC27):c.670-20A>C	noncoding	Benign
5	64800343	G	T	G64800343T	CWC27	NM_005869.4(CWC27):c.749+16G>T	noncoding	Benign
5	64801284	T	G	T64801284G	CWC27	NM_005869.4(CWC27):c.750-18T>G	noncoding	Benign
5	64801299	T	C	T64801299C	CWC27	NM_005869.4(CWC27):c.750-3T>C	noncoding	Benign
5	64801318	C	G	C64801318G	CWC27	NM_005869.4(CWC27):c.766C>G:p.Pro256Ala	coding	Benign
5	64804374	C	G	C64804374G	CWC27	NM_005869.4(CWC27):c.926C>G:p.Ser309Ter	coding	Pathogenic
5	64807670	G	A	G64807670A	CWC27	NM_005869.4(CWC27):c.938+3284G>A	coding	Benign
5	64885563	C	T	C64885563T	CWC27	NM_005869.4(CWC27):c.1042+17C>T	noncoding	Benign
5	64885564	G	A	G64885564A	CWC27	NM_005869.4(CWC27):c.1042+18G>A	noncoding	Benign
5	64971761	T	G	T64971761G	CWC27	NM_005869.4(CWC27):c.1101T>G:p.Tyr367Ter	coding	Pathogenic
5	64971768	T	C	T64971768C	CWC27	NM_005869.4(CWC27):c.1108T>C:p.Leu370=	coding	Benign
5	64977118	T	C	T64977118C	CWC27	NM_005869.4(CWC27):c.1153-17T>C	noncoding	Benign
5	64977191	G	A	G64977191A	CWC27	NM_005869.4(CWC27):c.1209G>A:p.Thr403=	coding	Benign
5	64977191	G	T	G64977191T	CWC27	NM_005869.4(CWC27):c.1209G>T:p.Thr403=	coding	Benign
5	65994729	C	A	C65994729A	ERBIN	NM_001253697.2(ERBIN):c.190-18C>A	noncoding	Benign
5	66021353	C	T	C66021353T	ERBIN	NM_001253697.2(ERBIN):c.565C>T:p.Leu189=	coding	Benign
5	66025483	C	T	C66025483T	ERBIN	NM_001253697.2(ERBIN):c.821C>T:p.Ser274Leu	coding	Benign
5	66025956	C	T	C66025956T	ERBIN	NM_001253697.2(ERBIN):c.999C>T:p.Tyr333=	coding	Benign
5	66026391	A	G	A66026391G	ERBIN	NM_001253697.2(ERBIN):c.1110A>G:p.Leu370=	coding	Benign
5	66028259	A	G	A66028259G	ERBIN	NM_001253697.2(ERBIN):c.1137-15A>G	noncoding	Benign
5	66038488	A	G	A66038488G	ERBIN	NM_001253697.2(ERBIN):c.1306+6A>G	noncoding	Benign
5	66048704	T	C	T66048704C	ERBIN	NM_001253697.2(ERBIN):c.1826T>C:p.Met609Thr	coding	Benign
5	66048795	G	A	G66048795A	ERBIN	NM_001253697.2(ERBIN):c.1903+14G>A	noncoding	Benign
5	66050771	G	A	G66050771A	ERBIN	NM_001253697.2(ERBIN):c.1904-12G>A	noncoding	Benign
5	66053554	A	G	A66053554G	ERBIN	NM_001253697.2(ERBIN):c.2236A>G:p.Lys746Glu	coding	Benign
5	66054036	T	C	T66054036C	ERBIN	NM_001253697.2(ERBIN):c.2718T>C:p.Asp906=	coding	Benign
5	66054051	C	T	C66054051T	ERBIN	NM_001253697.2(ERBIN):c.2733C>T:p.Val911=	coding	Benign/Likely_benign
5	66054216	A	G	A66054216G	ERBIN	NM_001253697.2(ERBIN):c.2898A>G:p.Gln966=	coding	Benign
5	66054312	C	G	C66054312G	ERBIN	NM_001253697.2(ERBIN):c.2994C>G:p.Pro998=	coding	Benign
5	66054345	C	T	C66054345T	ERBIN	NM_001253697.2(ERBIN):c.3027C>T:p.Leu1009=	coding	Benign
5	66054546	A	G	A66054546G	ERBIN	NM_001253697.2(ERBIN):c.3228A>G:p.Arg1076=	coding	Benign
5	66054578	A	G	A66054578G	ERBIN	NM_001253697.2(ERBIN):c.3260A>G:p.Asn1087Ser	coding	Benign
5	66054589	C	T	C66054589T	ERBIN	NM_001253697.2(ERBIN):c.3271C>T:p.Pro1091Ser	coding	Benign
5	66054653	C	T	C66054653T	ERBIN	NM_001253697.2(ERBIN):c.3335C>T:p.Ser1112Leu	coding	Benign
5	66076920	T	C	T66076920C	ERBIN	NM_001253697.2(ERBIN):c.4102T>C:p.Leu1368=	coding	Benign
5	66076964	T	C	T66076964C	ERBIN	NM_001253697.2(ERBIN):c.4131+15T>C	noncoding	Benign
5	66078414	C	T	C66078414T	ERBIN	NM_001253697.2(ERBIN):c.4132-9C>T	noncoding	Benign
5	67166241	A	G	A67166241G	MAST4	NM_001164664.2(MAST4):c.7062A>G:p.Thr2354=	coding	Benign
5	68226981	G	A	G68226981A	PIK3R1	NM_181523.3(PIK3R1):c.306G>A:p.Ser102=	coding	Benign
5	68227021	T	C	T68227021C	PIK3R1	NM_181523.3(PIK3R1):c.334+12T>C	noncoding	Benign
5	68227092	T	C	T68227092C	PIK3R1	NM_181523.3(PIK3R1):c.334+83T>C	noncoding	Benign
5	68273563	A	C	A68273563C	PIK3R1	NM_181523.3(PIK3R1):c.427+81A>C	noncoding	Benign
5	68273651	A	G	A68273651G	PIK3R1	NM_181523.3(PIK3R1):c.427+169A>G	noncoding	Benign
5	68273774	A	G	A68273774G	PIK3R1	NM_181523.3(PIK3R1):c.428-165A>G	noncoding	Benign
5	68273918	G	A	G68273918A	PIK3R1	NM_181523.3(PIK3R1):c.428-21G>A	noncoding	Benign
5	68273961	C	G	C68273961G	PIK3R1	NM_181523.3(PIK3R1):c.450C>G:p.Tyr150Ter	coding	Pathogenic
5	68273995	C	T	C68273995T	PIK3R1	NM_181523.3(PIK3R1):c.484C>T:p.Arg162Ter	coding	Pathogenic
5	68274310	G	A	G68274310A	PIK3R1	NM_181523.3(PIK3R1):c.502+297G>A	noncoding	Benign
5	68279453	C	T	C68279453T	PIK3R1	NM_181523.3(PIK3R1):c.503-149C>T	noncoding	Benign
5	68279516	A	G	A68279516G	PIK3R1	NM_181523.3(PIK3R1):c.503-86A>G	noncoding	Benign
5	68279814	A	G	A68279814G	PIK3R1	NM_181523.3(PIK3R1):c.634+81A>G	noncoding	Benign
5	68280991	C	T	C68280991T	PIK3R1	NM_181523.3(PIK3R1):c.901C>T:p.Arg301Ter	coding	Pathogenic
5	68281007	G	A	G68281007A	PIK3R1	NM_181523.3(PIK3R1):c.916+1G>A	coding	Pathogenic
5	68281223	G	A	G68281223A	PIK3R1	NM_181523.3(PIK3R1):c.916+217G>A	noncoding	Benign
5	68288529	A	G	A68288529G	PIK3R1	NM_181523.3(PIK3R1):c.917-3730A>G	coding	Benign
5	68288930	A	G	A68288930G	PIK3R1	NM_181523.3(PIK3R1):c.917-3329A>G	noncoding	Benign
5	68292166	C	T	C68292166T	PIK3R1	NM_181523.3(PIK3R1):c.917-93C>T	noncoding	Benign
5	68292172	A	G	A68292172G	PIK3R1	NM_181523.3(PIK3R1):c.917-87A>G	noncoding	Benign
5	68293210	G	A	G68293210A	PIK3R1	NM_181523.3(PIK3R1):c.1118+11G>A	noncoding	Benign/Likely_benign
5	68293310	G	A	G68293310A	PIK3R1	NM_181523.3(PIK3R1):c.1126G>A:p.Gly376Arg	coding	Pathogenic/Likely_pathogenic
5	68294086	G	A	G68294086A	PIK3R1	NM_181523.3(PIK3R1):c.1425+252G>A	noncoding	Benign
5	68294730	C	A	C68294730A	PIK3R1	NM_181523.3(PIK3R1):c.1568+52C>A	noncoding	Benign
5	68295130	C	T	C68295130T	PIK3R1	NM_181523.3(PIK3R1):c.1569-18C>T	noncoding	Benign
5	68295269	A	G	A68295269G	PIK3R1	NM_181523.3(PIK3R1):c.1690A>G:p.Asn564Asp	coding	Pathogenic/Likely_pathogenic
5	68296276	G	A	G68296276A	PIK3R1	NM_181523.3(PIK3R1):c.1920G>A:p.Gly640=	coding	Benign/Likely_benign
5	68296453	G	A	G68296453A	PIK3R1	NM_181523.3(PIK3R1):c.1985+112G>A	noncoding	Benign
5	68296465	A	C	A68296465C	PIK3R1	NM_181523.3(PIK3R1):c.1985+124A>C	noncoding	Benign
5	68297188	T	C	T68297188C	PIK3R1	NM_181523.3(PIK3R1):c.1986-224T>C	noncoding	Benign
5	69419644	A	T	A69419644T	MARVELD2	NM_001038603.3(MARVELD2):c.259A>T:p.Lys87Ter	coding	Pathogenic
5	69420636	G	A	G69420636A	MARVELD2	NM_001038603.3(MARVELD2):c.1146+105G>A	noncoding	Benign
5	69420806	A	T	A69420806T	MARVELD2	NM_001038603.3(MARVELD2):c.1146+275A>T	noncoding	Benign
5	69424719	G	A	G69424719A	MARVELD2	NM_001038603.3(MARVELD2):c.1182+83G>A	noncoding	Benign
5	69432717	G	A	G69432717A	MARVELD2	NM_001038603.3(MARVELD2):c.1331+42G>A	noncoding	Benign
5	69492434	G	A	G69492434A	OCLN	Single_allele	noncoding	Benign
5	69492642	C	T	C69492642T	OCLN	NM_001410743.1(OCLN):c.-86C>T	noncoding	Benign
5	69492986	C	T	C69492986T	OCLN	NM_001205254.2(OCLN):c.-69+86C>T	noncoding	Benign
5	69493132	C	T	C69493132T	OCLN	NM_001205254.2(OCLN):c.-69+232C>T	noncoding	Benign
5	69508998	T	C	T69508998C	OCLN	NM_001205254.2(OCLN):c.51-143T>C	noncoding	Benign
5	69509196	C	T	C69509196T	OCLN	NM_001205254.2(OCLN):c.106C>T:p.Arg36Ter	coding	Pathogenic
5	69509545	C	T	C69509545T	OCLN	NM_001205254.2(OCLN):c.455C>T:p.Ala152Val	coding	Benign/Likely_benign
5	69509603	C	A	C69509603A	OCLN	NM_001205254.2(OCLN):c.513C>A:p.Tyr171Ter	coding	Pathogenic
5	69548000	G	T	G69548000T	OCLN	NM_001205254.2(OCLN):c.1324G>T:p.Glu442Ter	coding	Pathogenic
5	70925090	C	T	C70925090T	SMN1	NM_000344.4(SMN1):c.-14C>T	noncoding	Benign
5	70925229	C	T	C70925229T	SMN1	NM_000344.4(SMN1):c.81+45C>T	noncoding	Benign
5	70946182	T	G	T70946182G	SMN1	NM_000344.4(SMN1):c.834+6T>G	noncoding	Pathogenic
5	70952074	T	G	T70952074G	SMN1	NM_000344.4(SMN1):c.*3+80T>G	noncoding	Benign
5	71455954	A	G	A71455954G	BDP1	NM_018429.3(BDP1):c.77A>G:p.Asn26Ser	coding	Benign
5	71458335	G	C	G71458335C	BDP1	NM_018429.3(BDP1):c.213-244G>C	noncoding	Benign
5	71458648	A	T	A71458648T	BDP1	NM_018429.3(BDP1):c.282A>T:p.Arg94Ser	coding	Benign
5	71463930	C	T	C71463930T	BDP1	NM_018429.3(BDP1):c.600-128C>T	noncoding	Benign
5	71464096	C	T	C71464096T	BDP1	NM_018429.3(BDP1):c.638C>T:p.Ser213Leu	coding	Benign
5	71464164	A	C	A71464164C	BDP1	NM_018429.3(BDP1):c.659+47A>C	noncoding	Benign
5	71466364	A	G	A71466364G	BDP1	NM_018429.3(BDP1):c.785+143A>G	noncoding	Benign
5	71467062	C	G	C71467062G	BDP1	NM_018429.3(BDP1):c.786-292C>G	noncoding	Benign
5	71467108	G	A	G71467108A	BDP1	NM_018429.3(BDP1):c.786-246G>A	noncoding	Benign
5	71467125	T	C	T71467125C	BDP1	NM_018429.3(BDP1):c.786-229T>C	noncoding	Benign
5	71467232	G	A	G71467232A	BDP1	NM_018429.3(BDP1):c.786-122G>A	noncoding	Benign
5	71467261	A	G	A71467261G	BDP1	NM_018429.3(BDP1):c.786-93A>G	noncoding	Benign
5	71467391	G	A	G71467391A	BDP1	NM_018429.3(BDP1):c.823G>A:p.Val275Ile	coding	Benign
5	71467634	C	T	C71467634T	BDP1	NM_018429.3(BDP1):c.919+147C>T	noncoding	Benign
5	71486617	A	G	A71486617G	BDP1	NM_018429.3(BDP1):c.1203A>G:p.Lys401=	coding	Benign
5	71486851	C	G	C71486851G	BDP1	NM_018429.3(BDP1):c.1213+224C>G	noncoding	Benign
5	71490888	T	G	T71490888G	BDP1	NM_018429.3(BDP1):c.1493-96T>G	noncoding	Benign
5	71491003	G	T	G71491003T	BDP1	NM_018429.3(BDP1):c.1512G>T:p.Arg504Ser	coding	Benign
5	71495032	G	A	G71495032A	BDP1	NM_018429.3(BDP1):c.1641-218G>A	noncoding	Benign
5	71495183	T	A	T71495183A	BDP1	NM_018429.3(BDP1):c.1641-67T>A	noncoding	Benign
5	71495438	A	G	A71495438G	BDP1	NM_018429.3(BDP1):c.1799+30A>G	noncoding	Benign
5	71501672	G	C	G71501672C	BDP1	NM_018429.3(BDP1):c.2048+19G>C	noncoding	Benign
5	71502421	G	A	G71502421A	BDP1	NM_018429.3(BDP1):c.2049-178G>A	noncoding	Benign
5	71502455	C	T	C71502455T	BDP1	NM_018429.3(BDP1):c.2049-144C>T	noncoding	Benign
5	71502698	T	A	T71502698A	BDP1	NM_018429.3(BDP1):c.2148T>A:p.Gly716=	coding	Benign
5	71502726	A	T	A71502726T	BDP1	NM_018429.3(BDP1):c.2176A>T:p.Ile726Leu	coding	Benign/Likely_benign
5	71502823	G	T	G71502823T	BDP1	NM_018429.3(BDP1):c.2241+32G>T	noncoding	Benign
5	71504452	A	T	A71504452T	BDP1	NM_018429.3(BDP1):c.2242-169A>T	noncoding	Benign
5	71509353	T	C	T71509353C	BDP1	NM_018429.3(BDP1):c.2373-112T>C	noncoding	Benign
5	71509442	T	C	T71509442C	BDP1	NM_018429.3(BDP1):c.2373-23T>C	noncoding	Benign
5	71509443	G	T	G71509443T	BDP1	NM_018429.3(BDP1):c.2373-22G>T	noncoding	Benign
5	71509450	C	T	C71509450T	BDP1	NM_018429.3(BDP1):c.2373-15C>T	noncoding	Benign
5	71509602	T	G	T71509602G	BDP1	NM_018429.3(BDP1):c.2510T>G:p.Ile837Ser	coding	Benign
5	71510135	A	C	A71510135C	BDP1	NM_018429.3(BDP1):c.3043A>C:p.Thr1015Pro	coding	Benign
5	71510157	G	A	G71510157A	BDP1	NM_018429.3(BDP1):c.3065G>A:p.Arg1022Lys	coding	Benign
5	71510304	G	C	G71510304C	BDP1	NM_018429.3(BDP1):c.3212G>C:p.Ser1071Thr	coding	Benign
5	71510746	G	A	G71510746A	BDP1	NM_018429.3(BDP1):c.3654G>A:p.Lys1218=	coding	Benign
5	71510889	A	C	A71510889C	BDP1	NM_018429.3(BDP1):c.3797A>C:p.Glu1266Ala	coding	Benign
5	71510931	C	G	C71510931G	BDP1	NM_018429.3(BDP1):c.3839C>G:p.Ala1280Gly	coding	Benign
5	71511246	C	T	C71511246T	BDP1	NM_018429.3(BDP1):c.4059+95C>T	noncoding	Benign
5	71512458	T	C	T71512458C	BDP1	NM_018429.3(BDP1):c.4247+30T>C	noncoding	Benign
5	71513209	G	A	G71513209A	BDP1	NM_018429.3(BDP1):c.4272G>A:p.Lys1424=	coding	Benign
5	71515109	G	T	G71515109T	BDP1	NM_018429.3(BDP1):c.4636G>T:p.Val1546Phe	coding	Benign
5	71515994	A	G	A71515994G	BDP1	NM_018429.3(BDP1):c.4650-67A>G	noncoding	Benign
5	71517363	C	T	C71517363T	BDP1	NM_018429.3(BDP1):c.4902C>T:p.Ser1634=	coding	Benign
5	71522073	A	G	A71522073G	BDP1	NM_018429.3(BDP1):c.4992-216A>G	noncoding	Benign
5	71522520	T	G	T71522520G	BDP1	NM_018429.3(BDP1):c.5193+30T>G	noncoding	Benign
5	71523050	A	G	A71523050G	BDP1	NM_018429.3(BDP1):c.5387+101A>G	noncoding	Benign
5	71532148	G	A	G71532148A	BDP1	NM_018429.3(BDP1):c.5773-160G>A	noncoding	Benign
5	71532424	G	A	G71532424A	BDP1	NM_018429.3(BDP1):c.5889G>A:p.Pro1963=	coding	Benign
5	71538876	A	C	A71538876C	BDP1	NM_018429.3(BDP1):c.5893-166A>C	noncoding	Benign
5	71539006	G	A	G71539006A	BDP1	NM_018429.3(BDP1):c.5893-36G>A	noncoding	Benign
5	71539099	T	C	T71539099C	BDP1	NM_018429.3(BDP1):c.5929+21T>C	noncoding	Benign
5	71539126	T	A	T71539126A	BDP1	NM_018429.3(BDP1):c.5929+48T>A	noncoding	Benign
5	71539265	G	A	G71539265A	BDP1	NM_018429.3(BDP1):c.5929+187G>A	noncoding	Benign
5	71544169	G	C	G71544169C	BDP1	NM_018429.3(BDP1):c.6413-188G>C	noncoding	Benign
5	71545076	A	G	A71545076G	BDP1	NM_018429.3(BDP1):c.6601A>G:p.Met2201Val	coding	Benign
5	71548671	T	C	T71548671C	BDP1	NM_018429.3(BDP1):c.6745-11T>C	noncoding	Benign
5	71548691	A	C	A71548691C	BDP1	NM_018429.3(BDP1):c.6754A>C:p.Thr2252Pro	coding	Benign
5	71552856	T	C	T71552856C	BDP1	NM_018429.3(BDP1):c.6996-260T>C	noncoding	Benign
5	71552879	C	T	C71552879T	BDP1	NM_018429.3(BDP1):c.6996-237C>T	noncoding	Benign
5	71552955	G	A	G71552955A	BDP1	NM_018429.3(BDP1):c.6996-161G>A	noncoding	Benign
5	71553309	T	G	T71553309G	BDP1	NM_018429.3(BDP1):c.7189T>G:p.Tyr2397Asp	coding	Benign
5	71553481	T	C	T71553481C	BDP1	NM_018429.3(BDP1):c.7200+161T>C	noncoding	Benign
5	71553570	A	G	A71553570G	BDP1	NM_018429.3(BDP1):c.7200+250A>G	noncoding	Benign
5	71556784	G	A	G71556784A	BDP1	NM_018429.3(BDP1):c.7201-102G>A	noncoding	Benign
5	71557195	A	G	A71557195G	BDP1	NM_018429.3(BDP1):c.7240+270A>G	noncoding	Benign
5	71560551	A	C	A71560551C	BDP1	NM_018429.3(BDP1):c.7496+314A>C	noncoding	Benign
5	71562036	A	G	A71562036G	BDP1	NM_018429.3(BDP1):c.7497-238A>G	noncoding	Benign
5	71562095	G	C	G71562095C	BDP1	NM_018429.3(BDP1):c.7497-179G>C	noncoding	Benign
5	71562262	T	C	T71562262C	BDP1	NM_018429.3(BDP1):c.7497-12T>C	noncoding	Benign
5	71562781	T	C	T71562781C	BDP1	NM_018429.3(BDP1):c.7743+261T>C	noncoding	Benign
5	71564666	T	C	T71564666C	BDP1	NM_018429.3(BDP1):c.7744-88T>C	noncoding	Benign
5	71587552	C	T	C71587552T	MCCC2	NM_022132.5(MCCC2):c.127C>T:p.Gln43Ter	coding	Pathogenic
5	71596313	C	G	C71596313G	MCCC2	NM_022132.5(MCCC2):c.230C>G:p.Ser77Ter	coding	Pathogenic
5	71599695	C	A	C71599695A	MCCC2	NM_022132.5(MCCC2):c.318C>A:p.Tyr106Ter	coding	Pathogenic
5	71602628	A	G	A71602628G	MCCC2	NM_022132.5(MCCC2):c.506A>G:p.Tyr169Cys	coding	Pathogenic
5	71604242	G	A	G71604242A	MCCC2	NM_022132.5(MCCC2):c.512-114G>A	noncoding	Benign
5	71604377	T	G	T71604377G	MCCC2	NM_022132.5(MCCC2):c.533T>G:p.Leu178Ter	coding	Pathogenic
5	71604436	C	T	C71604436T	MCCC2	NM_022132.5(MCCC2):c.592C>T:p.Gln198Ter	coding	Pathogenic
5	71604525	G	T	G71604525T	MCCC2	NM_022132.5(MCCC2):c.624+57G>T	noncoding	Benign
5	71626301	C	T	C71626301T	MCCC2	NM_022132.5(MCCC2):c.625-339C>T	noncoding	Benign
5	71626395	C	T	C71626395T	MCCC2	NM_022132.5(MCCC2):c.625-245C>T	noncoding	Benign
5	71626885	C	T	C71626885T	MCCC2	NM_022132.5(MCCC2):c.738+132C>T	noncoding	Benign/Likely_benign
5	71632029	G	A	G71632029A	MCCC2	NM_022132.5(MCCC2):c.739-92G>A	noncoding	Benign
5	71632030	G	C	G71632030C	MCCC2	NM_022132.5(MCCC2):c.739-91G>C	noncoding	Benign
5	71632185	G	C	G71632185C	MCCC2	NM_022132.5(MCCC2):c.803G>C:p.Arg268Thr	coding	Pathogenic
5	71632256	C	T	C71632256T	MCCC2	NM_022132.5(MCCC2):c.803+71C>T	noncoding	Benign
5	71632424	T	C	T71632424C	MCCC2	NM_022132.5(MCCC2):c.803+239T>C	noncoding	Benign
5	71635436	G	A	G71635436A	MCCC2	NM_022132.5(MCCC2):c.999+190G>A	noncoding	Benign
5	71644033	A	G	A71644033G	MCCC2	NM_022132.5(MCCC2):c.1149+138A>G	noncoding	Benign
5	71650286	G	C	G71650286C	MCCC2	NM_022132.5(MCCC2):c.1488+103G>C	noncoding	Benign
5	71650294	G	T	G71650294T	MCCC2	NM_022132.5(MCCC2):c.1488+111G>T	noncoding	Benign
5	71650296	G	A	G71650296A	MCCC2	NM_022132.5(MCCC2):c.1488+113G>A	noncoding	Benign
5	71652558	T	G	T71652558G	MCCC2	NM_022132.5(MCCC2):c.1489-111T>G	noncoding	Benign
5	71652739	A	C	A71652739C	MCCC2	NM_022132.5(MCCC2):c.1559A>C:p.Tyr520Ser	coding	Pathogenic
5	71652827	G	A	G71652827A	MCCC2	NM_022132.5(MCCC2):c.1574+73G>A	noncoding	Benign
5	71652991	G	A	G71652991A	MCCC2	NM_022132.5(MCCC2):c.1574+237G>A	noncoding	Benign
5	71656679	A	G	A71656679G	MCCC2	NM_022132.5(MCCC2):c.1575-64A>G	noncoding	Benign
5	71718885	T	C	T71718885C	CARTPT	Single_allele	noncoding	Benign
5	71718901	T	A	T71718901A	CARTPT	Single_allele	noncoding	Benign
5	71719119	A	G	A71719119G	CARTPT	Single_allele	noncoding	Benign
5	71719624	C	T	C71719624T	CARTPT	NM_004291.4(CARTPT):c.159+172C>T	noncoding	Benign
5	71719676	A	G	A71719676G	CARTPT	NM_004291.4(CARTPT):c.160-204A>G	noncoding	Benign
5	71720621	C	G	C71720621G	CARTPT	NM_004291.4(CARTPT):c.*6C>G	noncoding	Benign
5	71720654	A	G	A71720654G	CARTPT	NM_004291.4(CARTPT):c.*39A>G	noncoding	Benign
5	71720692	G	A	G71720692A	CARTPT	NM_004291.4(CARTPT):c.*77G>A	noncoding	Benign
5	71720741	C	A	C71720741A	CARTPT	NM_004291.4(CARTPT):c.*126C>A	noncoding	Benign
5	72195135	A	G	A72195135G	MAP1B	NM_005909.5(MAP1B):c.1780A>G:p.Ile594Val	coding	Benign
5	72196350	C	T	C72196350T	MAP1B	NM_005909.5(MAP1B):c.2995C>T:p.Arg999Ter	coding	Pathogenic
5	72197553	A	G	A72197553G	MAP1B	NM_005909.5(MAP1B):c.4198A>G:p.Ser1400Gly	coding	Pathogenic
5	72198050	A	T	A72198050T	MAP1B	NM_005909.5(MAP1B):c.4695A>T:p.Pro1565=	coding	Benign
5	73684549	T	G	T73684549G	ARHGEF28	NM_001177693.2(ARHGEF28):c.-11-292T>G	noncoding	Benign
5	73685012	G	A	G73685012A	ARHGEF28	NM_001177693.2(ARHGEF28):c.33+128G>A	noncoding	Benign
5	73685044	G	C	G73685044C	ARHGEF28	NM_001177693.2(ARHGEF28):c.33+160G>C	noncoding	Benign
5	73749597	G	C	G73749597C	ARHGEF28	NM_001177693.2(ARHGEF28):c.34-240G>C	noncoding	Benign
5	73749654	A	G	A73749654G	ARHGEF28	NM_001177693.2(ARHGEF28):c.34-183A>G	noncoding	Benign
5	73749681	T	C	T73749681C	ARHGEF28	NM_001177693.2(ARHGEF28):c.34-156T>C	noncoding	Benign
5	73773755	C	T	C73773755T	ARHGEF28	NM_001177693.2(ARHGEF28):c.476-100C>T	noncoding	Benign
5	73773756	A	G	A73773756G	ARHGEF28	NM_001177693.2(ARHGEF28):c.476-99A>G	noncoding	Benign
5	73774207	A	G	A73774207G	ARHGEF28	NM_001177693.2(ARHGEF28):c.659+169A>G	noncoding	Benign
5	73776705	A	G	A73776705G	ARHGEF28	NM_001177693.2(ARHGEF28):c.840+9A>G	noncoding	Benign/Likely_benign
5	73780632	G	A	G73780632A	ARHGEF28	NM_001177693.2(ARHGEF28):c.841-44G>A	noncoding	Benign
5	73794114	A	G	A73794114G	ARHGEF28	NM_001177693.2(ARHGEF28):c.911-288A>G	noncoding	Benign
5	73794264	T	G	T73794264G	ARHGEF28	NM_001177693.2(ARHGEF28):c.911-138T>G	noncoding	Benign
5	73795301	T	A	T73795301A	ARHGEF28	NM_001177693.2(ARHGEF28):c.964-30T>A	noncoding	Benign
5	73795680	T	C	T73795680C	ARHGEF28	NM_001177693.2(ARHGEF28):c.1024+289T>C	noncoding	Benign
5	73813663	G	A	G73813663A	ARHGEF28	NM_001177693.2(ARHGEF28):c.1024+18272G>A	coding	Benign
5	73832023	T	C	T73832023C	ARHGEF28	NM_001177693.2(ARHGEF28):c.1025-315T>C	noncoding	Benign
5	73832037	A	G	A73832037G	ARHGEF28	NM_001177693.2(ARHGEF28):c.1025-301A>G	noncoding	Benign
5	73832721	C	T	C73832721T	ARHGEF28	NM_001177693.2(ARHGEF28):c.1146+262C>T	noncoding	Benign
5	73840893	T	G	T73840893G	ARHGEF28	NM_001177693.2(ARHGEF28):c.1427+133T>G	noncoding	Benign
5	73846069	C	T	C73846069T	ARHGEF28	NM_001177693.2(ARHGEF28):c.1428-199C>T	noncoding	Benign
5	73846555	A	G	A73846555G	ARHGEF28	NM_001177693.2(ARHGEF28):c.1635+80A>G	noncoding	Benign
5	73849194	A	G	A73849194G	ARHGEF28	NM_001177693.2(ARHGEF28):c.1747+107A>G	noncoding	Benign
5	73852469	A	G	A73852469G	ARHGEF28	NM_001177693.2(ARHGEF28):c.1748-181A>G	noncoding	Benign
5	73852495	C	T	C73852495T	ARHGEF28	NM_001177693.2(ARHGEF28):c.1748-155C>T	noncoding	Benign
5	73852604	C	T	C73852604T	ARHGEF28	NM_001177693.2(ARHGEF28):c.1748-46C>T	noncoding	Benign
5	73852985	A	G	A73852985G	ARHGEF28	NM_001177693.2(ARHGEF28):c.1790+293A>G	noncoding	Benign
5	73852999	C	T	C73852999T	ARHGEF28	NM_001177693.2(ARHGEF28):c.1790+307C>T	noncoding	Benign
5	73857504	G	A	G73857504A	ARHGEF28	NM_001177693.2(ARHGEF28):c.1791-152G>A	noncoding	Benign
5	73857588	T	C	T73857588C	ARHGEF28	NM_001177693.2(ARHGEF28):c.1791-68T>C	noncoding	Benign
5	73857929	A	C	A73857929C	ARHGEF28	NM_001177693.2(ARHGEF28):c.1914+150A>C	noncoding	Benign
5	73864594	G	A	G73864594A	ARHGEF28	NM_001177693.2(ARHGEF28):c.2048-223G>A	noncoding	Benign
5	73864905	G	A	G73864905A	ARHGEF28	NM_001177693.2(ARHGEF28):c.2103+33G>A	noncoding	Benign
5	73864950	A	G	A73864950G	ARHGEF28	NM_001177693.2(ARHGEF28):c.2103+78A>G	noncoding	Benign
5	73865733	C	A	C73865733A	ARHGEF28	NM_001177693.2(ARHGEF28):c.2104-232C>A	noncoding	Benign
5	73865753	A	G	A73865753G	ARHGEF28	NM_001177693.2(ARHGEF28):c.2104-212A>G	noncoding	Benign
5	73868381	C	A	C73868381A	ARHGEF28	NM_001177693.2(ARHGEF28):c.2425+154C>A	noncoding	Benign
5	73868436	C	T	C73868436T	ARHGEF28	NM_001177693.2(ARHGEF28):c.2425+209C>T	noncoding	Benign
5	73869915	C	A	C73869915A	ARHGEF28	NM_001177693.2(ARHGEF28):c.2426-154C>A	noncoding	Benign
5	73870529	A	C	A73870529C	ARHGEF28	NM_001177693.2(ARHGEF28):c.2566+320A>C	noncoding	Benign
5	73872754	G	A	G73872754A	ARHGEF28	NM_001177693.2(ARHGEF28):c.2567-245G>A	noncoding	Benign
5	73882280	C	T	C73882280T	ARHGEF28	NM_001177693.2(ARHGEF28):c.2815-192C>T	noncoding	Benign
5	73882725	T	G	T73882725G	ARHGEF28	NM_001177693.2(ARHGEF28):c.2937+131T>G	noncoding	Benign
5	73891835	A	C	A73891835C	ARHGEF28	NM_001177693.2(ARHGEF28):c.3388-217A>C	noncoding	Benign
5	73893320	G	A	G73893320A	ARHGEF28	NM_001177693.2(ARHGEF28):c.3658+32G>A	noncoding	Benign
5	73894294	T	A	T73894294A	ARHGEF28	NM_001177693.2(ARHGEF28):c.3659-99T>A	noncoding	Benign
5	73894349	A	G	A73894349G	ARHGEF28	NM_001177693.2(ARHGEF28):c.3659-44A>G	noncoding	Benign
5	73894375	G	C	G73894375C	ARHGEF28	NM_001177693.2(ARHGEF28):c.3659-18G>C	noncoding	Benign
5	73894821	G	A	G73894821A	ARHGEF28	NM_001177693.2(ARHGEF28):c.3841+246G>A	noncoding	Benign
5	73897658	G	A	G73897658A	ARHGEF28	NM_001177693.2(ARHGEF28):c.3842-304G>A	noncoding	Benign
5	73897787	C	T	C73897787T	ARHGEF28	NM_001177693.2(ARHGEF28):c.3842-175C>T	noncoding	Benign
5	73900936	G	A	G73900936A	ARHGEF28	NM_001177693.2(ARHGEF28):c.3974-248G>A	noncoding	Benign
5	73900985	C	T	C73900985T	ARHGEF28	NM_001177693.2(ARHGEF28):c.3974-199C>T	noncoding	Benign
5	73901018	A	T	A73901018T	ARHGEF28	NM_001177693.2(ARHGEF28):c.3974-166A>T	noncoding	Benign
5	73901360	A	C	A73901360C	ARHGEF28	NM_001177693.2(ARHGEF28):c.4074+76A>C	noncoding	Benign
5	73901375	G	A	G73901375A	ARHGEF28	NM_001177693.2(ARHGEF28):c.4074+91G>A	noncoding	Benign
5	73901576	C	G	C73901576G	ARHGEF28	NM_001177693.2(ARHGEF28):c.4074+292C>G	noncoding	Benign
5	73901600	C	T	C73901600T	ARHGEF28	NM_001177693.2(ARHGEF28):c.4074+316C>T	noncoding	Benign
5	73903980	A	T	A73903980T	ARHGEF28	NM_001177693.2(ARHGEF28):c.4075-242A>T	noncoding	Benign
5	73904343	A	G	A73904343G	ARHGEF28	NM_001177693.2(ARHGEF28):c.4114-15A>G	noncoding	Benign/Likely_benign
5	73904421	T	C	T73904421C	ARHGEF28	NM_001177693.2(ARHGEF28):c.4161+16T>C	noncoding	Benign/Likely_benign
5	73910975	T	C	T73910975C	ARHGEF28	NM_001177693.2(ARHGEF28):c.4648-300T>C	noncoding	Benign
5	73911168	A	G	A73911168G	ARHGEF28	NM_001177693.2(ARHGEF28):c.4648-107A>G	noncoding	Benign
5	73911692	T	C	T73911692C	ARHGEF28	NM_001177693.2(ARHGEF28):c.4948+117T>C	noncoding	Benign
5	73923036	G	A	G73923036A	ARHGEF28	NM_001177693.2(ARHGEF28):c.4948+11461G>A	noncoding	Benign
5	73923334	T	C	T73923334C	ARHGEF28	NM_001177693.2(ARHGEF28):c.4948+11759T>C	noncoding	Benign
5	74636490	T	C	T74636490C	ENC1	NM_003633.4(ENC1):c.-5A>G	noncoding	Benign
5	74685086	G	A	G74685086A	HEXB	NM_000521.4(HEXB):c.-175G>A	noncoding	Benign
5	74685634	C	A	C74685634A	HEXB	NM_000521.4(HEXB):c.299+75C>A	noncoding	Benign
5	74689088	A	G	A74689088G	HEXB	NM_000521.4(HEXB):c.300-240A>G	noncoding	Benign
5	74689127	C	A	C74689127A	HEXB	NM_000521.4(HEXB):c.300-201C>A	noncoding	Benign
5	74689438	G	A	G74689438A	HEXB	NM_000521.4(HEXB):c.410G>A:p.Cys137Tyr	coding	Pathogenic
5	74689532	T	C	T74689532C	HEXB	NM_000521.4(HEXB):c.445+59T>C	noncoding	Benign
5	74689753	A	C	A74689753C	HEXB	NM_000521.4(HEXB):c.445+280A>C	noncoding	Benign
5	74693472	C	T	C74693472T	HEXB	NM_000521.4(HEXB):c.446-167C>T	noncoding	Benign
5	74693645	T	A	T74693645A	HEXB	NM_000521.4(HEXB):c.452T>A:p.Leu151Ter	coding	Pathogenic/Likely_pathogenic
5	74696581	T	G	T74696581G	HEXB	NM_000521.4(HEXB):c.512-112T>G	noncoding	Benign
5	74696740	G	C	G74696740C	HEXB	NM_000521.4(HEXB):c.558+1G>C	coding	Pathogenic/Likely_pathogenic
5	74705310	T	C	T74705310C	HEXB	NM_000521.4(HEXB):c.761T>C:p.Leu254Ser	coding	Pathogenic
5	74713196	G	A	G74713196A	HEXB	NM_000521.4(HEXB):c.772-310G>A	noncoding	Benign
5	74713467	C	T	C74713467T	HEXB	NM_000521.4(HEXB):c.772-39C>T	noncoding	Benign
5	74713530	T	G	T74713530G	HEXB	NM_000521.4(HEXB):c.796T>G:p.Tyr266Asp	coding	Pathogenic/Likely_pathogenic
5	74715534	G	A	G74715534A	HEXB	NM_000521.4(HEXB):c.926G>A:p.Cys309Tyr	coding	Pathogenic
5	74715991	T	G	T74715991G	HEXB	NM_000521.4(HEXB):c.1082+301T>G	noncoding	Benign
5	74716648	A	T	A74716648T	HEXB	NM_000521.4(HEXB):c.1144A>T:p.Lys382Ter	coding	Pathogenic
5	74720712	T	G	T74720712G	HEXB	NM_000521.4(HEXB):c.1578T>G:p.Tyr526Ter	coding	Pathogenic
5	74736986	C	T	C74736986T	GFM2	NM_032380.5(GFM2):c.1321-1G>A	coding	Pathogenic
5	74736989	C	A	C74736989A	GFM2	NM_032380.5(GFM2):c.1321-4G>T	noncoding	Benign
5	74737072	T	C	T74737072C	GFM2	NM_032380.5(GFM2):c.1321-87A>G	noncoding	Benign
5	74738207	C	A	C74738207A	GFM2	NM_032380.5(GFM2):c.1320+111G>T	noncoding	Benign
5	74738620	A	G	A74738620G	GFM2	NM_032380.5(GFM2):c.1102T>C:p.Cys368Arg	coding	Benign
5	74740067	T	C	T74740067C	GFM2	NM_032380.5(GFM2):c.1001A>G:p.Lys334Arg	coding	Benign
5	74741680	A	G	A74741680G	GFM2	NM_032380.5(GFM2):c.850-71T>C	noncoding	Benign
5	74750831	A	G	A74750831G	GFM2	NM_032380.5(GFM2):c.431-164T>C	noncoding	Benign
5	74751611	G	A	G74751611A	GFM2	NM_032380.5(GFM2):c.305-118C>T	noncoding	Benign
5	74760688	T	C	T74760688C	GFM2	NM_032380.5(GFM2):c.148+214A>G	noncoding	Benign
5	74763550	G	C	G74763550C	GFM2	NM_032380.5(GFM2):c.63+130C>G	noncoding	Benign
5	74763883	T	C	T74763883C	GFM2	NM_032380.5(GFM2):c.-24-117A>G	noncoding	Benign
5	74764026	G	A	G74764026A	GFM2	NM_032380.5(GFM2):c.-24-260C>T	noncoding	Benign
5	74765256	T	G	T74765256G	GFM2	NM_032380.5(GFM2):c.-24-1490A>C	noncoding	Benign
5	74767056	C	T	C74767056T	GFM2	NM_032380.5(GFM2):c.-143G>A	noncoding	Benign
5	74767244	G	A	G74767244A	GFM2	Single_allele	noncoding	Benign
5	74767329	C	G	C74767329G	GFM2	NM_014886.6(NSA2):c.-32C>G	noncoding	Benign
5	74767425	T	C	T74767425C	GFM2	NM_014886.6(NSA2):c.3+62T>C	noncoding	Benign
5	74767443	G	T	G74767443T	GFM2	NM_014886.6(NSA2):c.3+80G>T	noncoding	Benign
5	75169123	T	C	T75169123C	ANKRD31	NM_001372053.1(ANKRD31):c.1565-2A>G	noncoding	Pathogenic
5	75195663	G	A	G75195663A	ANKRD31	NM_001372053.1(ANKRD31):c.985C>T:p.Gln329Ter	coding	Pathogenic
5	75374198	G	A	G75374198A	CERT1	NM_005713.3(CERT1):c.*10-7C>T	noncoding	Benign
5	75385948	T	C	T75385948C	CERT1	NM_001379029.1(CERT1):c.1371A>G:p.Glu457=	coding	Benign
5	75685278	C	T	C75685278T	POC5	NM_001099271.2(POC5):c.1336G>A:p.Ala446Thr	coding	Benign
5	75685328	G	A	G75685328A	POC5	NM_001099271.2(POC5):c.1286C>T:p.Ala429Val	coding	Benign
5	75685342	G	A	G75685342A	POC5	NM_001099271.2(POC5):c.1272C>T:p.Val424=	coding	Benign
5	75685497	A	T	A75685497T	POC5	NM_001099271.2(POC5):c.1130-13T>A	noncoding	Benign
5	75688993	A	T	A75688993T	POC5	NM_001099271.2(POC5):c.1129+19T>A	noncoding	Benign
5	75689163	T	C	T75689163C	POC5	NM_001099271.2(POC5):c.978A>G:p.Leu326=	coding	Benign
5	75692418	C	G	C75692418G	POC5	NM_001099271.2(POC5):c.773G>C:p.Gly258Ala	coding	Benign
5	75692511	C	T	C75692511T	POC5	NM_001099271.2(POC5):c.691-11G>A	noncoding	Benign
5	75702601	G	A	G75702601A	POC5	NM_001099271.2(POC5):c.513+4C>T	noncoding	Benign
5	75702662	A	C	A75702662C	POC5	NM_001099271.2(POC5):c.456T>G:p.Ser152=	coding	Benign
5	75702773	G	A	G75702773A	POC5	NM_001099271.2(POC5):c.345C>T:p.His115=	coding	Benign
5	75702781	G	A	G75702781A	POC5	NM_001099271.2(POC5):c.337C>T:p.Pro113Ser	coding	Benign
5	75705757	A	G	A75705757G	POC5	NM_001099271.2(POC5):c.254T>C:p.Ile85Thr	coding	Benign
5	75705765	T	A	T75705765A	POC5	NM_001099271.2(POC5):c.246A>T:p.Glu82Asp	coding	Benign
5	75707834	T	C	T75707834C	POC5	NM_001099271.2(POC5):c.126A>G:p.Pro42=	coding	Benign
5	75707853	T	C	T75707853C	POC5	NM_001099271.2(POC5):c.107A>G:p.His36Arg	coding	Benign
5	75712851	T	G	T75712851G	POC5	NM_001099271.2(POC5):c.84+3A>C	noncoding	Benign
5	75712864	G	A	G75712864A	POC5	NM_001099271.2(POC5):c.74C>T:p.Ser25Leu	coding	Benign
5	76588909	G	A	G76588909A	IQGAP2	NM_006633.5(IQGAP2):c.462G>A:p.Leu154=	coding	Benign
5	77035624	G	A	G77035624A	AGGF1	NM_018046.5(AGGF1):c.397G>A:p.Glu133Lys	coding	Benign/Likely_benign
5	77211020	T	C	T77211020C	PDE8B	NM_003719.5(PDE8B):c.95T>C:p.Val32Ala	coding	Pathogenic
5	77251387	C	T	C77251387T	PDE8B	NM_003719.5(PDE8B):c.339+40123C>T	noncoding	Benign
5	78003077	C	T	C78003077T	AP3B1	NM_003664.5(AP3B1):c.3132-22G>A	noncoding	Benign
5	78015128	A	T	A78015128T	AP3B1	NM_003664.5(AP3B1):c.3131+282T>A	noncoding	Benign
5	78015563	G	T	G78015563T	AP3B1	NM_003664.5(AP3B1):c.2993-15C>A	noncoding	Benign
5	78020999	T	C	T78020999C	AP3B1	NM_003664.5(AP3B1):c.2895-210A>G	noncoding	Benign
5	78039472	G	A	G78039472A	AP3B1	NM_003664.5(AP3B1):c.2578-198C>T	noncoding	Benign
5	78039493	C	T	C78039493T	AP3B1	NM_003664.5(AP3B1):c.2578-219G>A	noncoding	Benign
5	78100943	C	G	C78100943G	AP3B1	NM_003664.5(AP3B1):c.2470+10G>C	noncoding	Benign/Likely_benign
5	78101243	G	A	G78101243A	AP3B1	NM_003664.5(AP3B1):c.2398-218C>T	noncoding	Benign
5	78114026	T	C	T78114026C	AP3B1	NM_003664.5(AP3B1):c.2078-103A>G	noncoding	Benign
5	78128161	C	A	C78128161A	AP3B1	NM_003664.5(AP3B1):c.1838-1G>T	coding	Pathogenic
5	78128179	A	C	A78128179C	AP3B1	NM_003664.5(AP3B1):c.1838-19T>G	noncoding	Benign
5	78128238	G	C	G78128238C	AP3B1	NM_003664.5(AP3B1):c.1838-78C>G	noncoding	Benign
5	78129012	C	T	C78129012T	AP3B1	NM_003664.5(AP3B1):c.1837+109G>A	noncoding	Benign
5	78141447	A	T	A78141447T	AP3B1	NM_003664.5(AP3B1):c.1474-128T>A	noncoding	Benign
5	78141467	C	T	C78141467T	AP3B1	NM_003664.5(AP3B1):c.1474-148G>A	noncoding	Benign
5	78141468	G	A	G78141468A	AP3B1	NM_003664.5(AP3B1):c.1474-149C>T	noncoding	Benign
5	78141518	G	A	G78141518A	AP3B1	NM_003664.5(AP3B1):c.1474-199C>T	noncoding	Benign
5	78141626	T	C	T78141626C	AP3B1	NM_003664.5(AP3B1):c.1474-307A>G	noncoding	Benign
5	78156041	T	G	T78156041G	AP3B1	NM_003664.5(AP3B1):c.1473+217A>C	noncoding	Benign
5	78156252	A	G	A78156252G	AP3B1	NM_003664.5(AP3B1):c.1473+6T>C	noncoding	Pathogenic
5	78162518	A	T	A78162518T	AP3B1	NM_003664.5(AP3B1):c.1363+301T>A	noncoding	Benign
5	78165517	T	C	T78165517C	AP3B1	NM_003664.5(AP3B1):c.1230+93A>G	noncoding	Benign
5	78165654	A	G	A78165654G	AP3B1	NM_003664.5(AP3B1):c.1186T>C:p.Leu396=	coding	Benign/Likely_benign
5	78165742	A	G	A78165742G	AP3B1	NM_003664.5(AP3B1):c.1168-70T>C	noncoding	Benign
5	78175767	G	A	G78175767A	AP3B1	NM_003664.5(AP3B1):c.1095+17C>T	noncoding	Benign
5	78176002	C	T	C78176002T	AP3B1	NM_003664.5(AP3B1):c.1041-164G>A	noncoding	Benign
5	78177595	T	C	T78177595C	AP3B1	NM_003664.5(AP3B1):c.943-159A>G	noncoding	Benign
5	78216334	G	A	G78216334A	AP3B1	NM_003664.5(AP3B1):c.604-97C>T	noncoding	Benign
5	78216405	C	T	C78216405T	AP3B1	NM_003664.5(AP3B1):c.604-168G>A	noncoding	Benign
5	78227268	G	A	G78227268A	AP3B1	NM_003664.5(AP3B1):c.536+104C>T	noncoding	Benign
5	78228133	C	T	C78228133T	AP3B1	NM_003664.5(AP3B1):c.375+11G>A	noncoding	Benign
5	78228267	A	G	A78228267G	AP3B1	NM_003664.5(AP3B1):c.280-28T>C	noncoding	Benign
5	78240651	T	G	T78240651G	AP3B1	NM_003664.5(AP3B1):c.279+211A>C	noncoding	Benign
5	78240681	T	C	T78240681C	AP3B1	NM_003664.5(AP3B1):c.279+181A>G	noncoding	Benign
5	78267352	A	G	A78267352G	AP3B1	NM_003664.5(AP3B1):c.204+168T>C	noncoding	Benign
5	78267439	G	A	G78267439A	AP3B1	NM_003664.5(AP3B1):c.204+81C>T	noncoding	Benign
5	78294185	G	C	G78294185C	AP3B1	NM_003664.5(AP3B1):c.128+267C>G	noncoding	Benign
5	78294866	A	C	A78294866C	AP3B1	Single_allele	noncoding	Benign
5	78780580	C	T	C78780580T	ARSB	NM_000046.5(ARSB):c.1419G>A:p.Trp473Ter	coding	Pathogenic
5	78780649	C	G	C78780649G	ARSB	NM_000046.5(ARSB):c.1350G>C:p.Trp450Cys	coding	Pathogenic/Likely_pathogenic
5	78780694	G	C	G78780694C	ARSB	NM_000046.5(ARSB):c.1337-32C>G	noncoding	Benign
5	78780879	G	A	G78780879A	ARSB	NM_000046.5(ARSB):c.1337-217C>T	noncoding	Benign
5	78781850	A	G	A78781850G	ARSB	NM_000046.5(ARSB):c.1336+2T>C	noncoding	Pathogenic
5	78781851	C	T	C78781851T	ARSB	NM_000046.5(ARSB):c.1336+1G>A	noncoding	Pathogenic
5	78815851	A	G	A78815851G	ARSB	NM_000046.5(ARSB):c.1213+23505T>C	coding	Benign
5	78816382	G	A	G78816382A	ARSB	NM_000046.5(ARSB):c.1213+22974C>T	noncoding	Benign
5	78839401	C	T	C78839401T	ARSB	NM_000046.5(ARSB):c.1168G>A:p.Glu390Lys	coding	Pathogenic/Likely_pathogenic
5	78839434	A	C	A78839434C	ARSB	NM_000046.5(ARSB):c.1143-8T>G	noncoding	Pathogenic/Likely_pathogenic
5	78885446	G	A	G78885446A	ARSB	NM_000046.5(ARSB):c.1142+138C>T	noncoding	Benign
5	78885678	T	C	T78885678C	ARSB	NM_000046.5(ARSB):c.1048A>G:p.Ile350Val	coding	Benign
5	78885767	C	A	C78885767A	ARSB	NM_000046.5(ARSB):c.959G>T:p.Ser320Ile	coding	Pathogenic
5	78885789	G	C	G78885789C	ARSB	NM_000046.5(ARSB):c.937C>G:p.Pro313Ala	coding	Pathogenic/Likely_pathogenic
5	78885818	C	T	C78885818T	ARSB	NM_000046.5(ARSB):c.908G>A:p.Gly303Glu	coding	Pathogenic/Likely_pathogenic
5	78955443	T	C	T78955443C	ARSB	NM_000046.5(ARSB):c.750A>G:p.Glu250=	coding	Benign
5	78955688	C	T	C78955688T	ARSB	NM_000046.5(ARSB):c.691-186G>A	noncoding	Benign
5	78964280	T	C	T78964280C	ARSB	NM_000046.5(ARSB):c.690+136A>G	noncoding	Benign
5	78964835	C	T	C78964835T	ARSB	NM_000046.5(ARSB):c.500-229G>A	noncoding	Benign
5	78964861	T	A	T78964861A	ARSB	NM_000046.5(ARSB):c.500-255A>T	noncoding	Benign
5	78969156	A	G	A78969156G	ARSB	NM_000046.5(ARSB):c.349T>C:p.Cys117Arg	coding	Pathogenic/Likely_pathogenic
5	78969160	C	T	C78969160T	ARSB	NM_000046.5(ARSB):c.345G>A:p.Trp115Ter	coding	Pathogenic
5	78969204	A	G	A78969204G	ARSB	NM_000046.5(ARSB):c.313-12T>C	noncoding	Benign/Likely_benign
5	78984633	G	A	G78984633A	ARSB	NM_000046.5(ARSB):c.312+304C>T	noncoding	Benign
5	78984708	G	T	G78984708T	ARSB	NM_000046.5(ARSB):c.312+229C>A	noncoding	Benign
5	78984770	C	T	C78984770T	ARSB	NM_000046.5(ARSB):c.312+167G>A	noncoding	Benign
5	78984774	C	A	C78984774A	ARSB	NM_000046.5(ARSB):c.312+163G>T	noncoding	Benign
5	78984960	G	T	G78984960T	ARSB	NM_000046.5(ARSB):c.289C>A:p.Gln97Lys	coding	Pathogenic
5	78985045	G	T	G78985045T	ARSB	NM_000046.5(ARSB):c.204C>A:p.Arg68=	coding	Benign
5	78985079	C	T	C78985079T	ARSB	NM_000046.5(ARSB):c.170G>A:p.Trp57Ter	coding	Pathogenic
5	78985089	C	T	C78985089T	ARSB	NM_000046.5(ARSB):c.160G>A:p.Asp54Asn	coding	Pathogenic/Likely_pathogenic
5	78985812	T	C	T78985812C	ARSB	NM_000046.3(ARSB):c.-564A>G	noncoding	Benign/Likely_benign
5	78986206	T	C	T78986206C	ARSB	NM_000046.3(ARSB):c.-958A>G	noncoding	Benign/Likely_benign
5	78986847	G	A	G78986847A	ARSB	NM_000046.3(ARSB):c.-1599C>T	noncoding	Benign
5	79005431	G	A	G79005431A	DMGDH	NM_013391.3(DMGDH):c.2251-24C>T	noncoding	Benign
5	79005503	A	G	A79005503G	DMGDH	NM_013391.3(DMGDH):c.2251-96T>C	noncoding	Benign
5	79005540	T	A	T79005540A	DMGDH	NM_013391.3(DMGDH):c.2251-133A>T	noncoding	Benign
5	79044239	T	C	T79044239C	DMGDH	NM_013391.3(DMGDH):c.994+65A>G	noncoding	Benign
5	79044434	C	G	C79044434G	DMGDH	NM_013391.3(DMGDH):c.864G>C:p.Leu288=	coding	Benign
5	79044463	A	G	A79044463G	DMGDH	NM_013391.3(DMGDH):c.835T>C:p.Ser279Pro	coding	Benign
5	79044588	T	C	T79044588C	DMGDH	NM_013391.3(DMGDH):c.746-36A>G	noncoding	Benign
5	79044694	A	T	A79044694T	DMGDH	NM_013391.3(DMGDH):c.746-142T>A	noncoding	Benign
5	79055689	T	C	T79055689C	DMGDH	NM_013391.3(DMGDH):c.375+121A>G	noncoding	Benign
5	79055784	G	C	G79055784C	DMGDH	NM_013391.3(DMGDH):c.375+26C>G	noncoding	Benign
5	79799594	C	T	C79799594T	CMYA5	NM_153610.5(CMYA5):c.12188C>T:p.Pro4063Leu	coding	Benign
5	80637931	T	G	T80637931G	DHFR	NM_000791.4(DHFR):c.321A>C:p.Ala107=	coding	Benign
5	80654584	C	T	C80654584T	MSH3	NM_000791.4(DHFR):c.-95G>A	noncoding	Benign
5	80654678	C	T	C80654678T	MSH3	NM_002439.5(MSH3):c.-50C>T	noncoding	Benign
5	80654689	C	T	C80654689T	MSH3	NM_002439.5(MSH3):c.-39C>T	noncoding	Benign
5	80654693	A	G	A80654693G	MSH3	NM_002439.5(MSH3):c.-35A>G	noncoding	Benign
5	80654803	C	T	C80654803T	MSH3	NM_002439.5(MSH3):c.76C>T:p.Arg26Ter	coding	Pathogenic/Likely_pathogenic
5	80654863	C	T	C80654863T	MSH3	NM_002439.5(MSH3):c.136C>T:p.Gln46Ter	coding	Pathogenic/Likely_pathogenic
5	80654947	C	T	C80654947T	MSH3	NM_002439.5(MSH3):c.220C>T:p.Gln74Ter	coding	Pathogenic
5	80654966	T	C	T80654966C	MSH3	NM_002439.5(MSH3):c.237+2T>C	coding	Pathogenic/Likely_pathogenic
5	80654982	C	T	C80654982T	MSH3	NM_002439.5(MSH3):c.237+18C>T	coding	Benign
5	80655040	G	T	G80655040T	MSH3	NM_002439.5(MSH3):c.237+76G>T	noncoding	Benign
5	80655213	A	G	A80655213G	MSH3	NM_002439.5(MSH3):c.237+249A>G	noncoding	Benign
5	80656215	A	G	A80656215G	MSH3	NM_002439.5(MSH3):c.238-196A>G	noncoding	Benign
5	80656335	G	A	G80656335A	MSH3	NM_002439.5(MSH3):c.238-76G>A	noncoding	Benign
5	80656346	C	G	C80656346G	MSH3	NM_002439.5(MSH3):c.238-65C>G	noncoding	Benign
5	80656495	G	T	G80656495T	MSH3	NM_002439.5(MSH3):c.322G>T:p.Glu108Ter	coding	Pathogenic
5	80656529	C	T	C80656529T	MSH3	NM_002439.5(MSH3):c.356C>T:p.Ser119Phe	coding	Benign/Likely_benign
5	80656571	T	C	T80656571C	MSH3	NM_002439.5(MSH3):c.358+40T>C	noncoding	Benign
5	80656607	G	A	G80656607A	MSH3	NM_002439.5(MSH3):c.358+76G>A	noncoding	Benign
5	80656607	G	C	G80656607C	MSH3	NM_002439.5(MSH3):c.358+76G>C	noncoding	Benign
5	80656722	C	G	C80656722G	MSH3	NM_002439.5(MSH3):c.358+191C>G	noncoding	Benign
5	80665007	T	A	T80665007A	MSH3	NM_002439.5(MSH3):c.359-136T>A	noncoding	Benign
5	80665030	A	G	A80665030G	MSH3	NM_002439.5(MSH3):c.359-113A>G	noncoding	Benign
5	80665136	G	A	G80665136A	MSH3	NM_002439.5(MSH3):c.359-7G>A	noncoding	Benign
5	80665176	C	G	C80665176G	MSH3	NM_002439.5(MSH3):c.392C>G:p.Ser131Ter	coding	Pathogenic
5	80665199	G	T	G80665199T	MSH3	NM_002439.5(MSH3):c.415G>T:p.Glu139Ter	coding	Pathogenic
5	80665238	C	T	C80665238T	MSH3	NM_002439.5(MSH3):c.454C>T:p.Gln152Ter	coding	Pathogenic
5	80665244	G	T	G80665244T	MSH3	NM_002439.5(MSH3):c.460G>T:p.Glu154Ter	coding	Pathogenic
5	80665253	C	T	C80665253T	MSH3	NM_002439.5(MSH3):c.469C>T:p.Gln157Ter	coding	Pathogenic
5	80665422	G	A	G80665422A	MSH3	NM_002439.5(MSH3):c.579+59G>A	noncoding	Benign
5	80665469	G	C	G80665469C	MSH3	NM_002439.5(MSH3):c.579+106G>C	noncoding	Benign
5	80665470	G	A	G80665470A	MSH3	NM_002439.5(MSH3):c.579+107G>A	noncoding	Benign
5	80665493	C	A	C80665493A	MSH3	NM_002439.5(MSH3):c.579+130C>A	noncoding	Benign
5	80665516	C	T	C80665516T	MSH3	NM_002439.5(MSH3):c.579+153C>T	noncoding	Benign
5	80665543	G	A	G80665543A	MSH3	NM_002439.5(MSH3):c.579+180G>A	noncoding	Benign
5	80665613	G	T	G80665613T	MSH3	NM_002439.5(MSH3):c.579+250G>T	noncoding	Benign
5	80665651	T	C	T80665651C	MSH3	NM_002439.5(MSH3):c.579+288T>C	noncoding	Benign
5	80669916	T	C	T80669916C	MSH3	NM_002439.5(MSH3):c.580-181T>C	noncoding	Benign
5	80669956	G	T	G80669956T	MSH3	NM_002439.5(MSH3):c.580-141G>T	noncoding	Benign
5	80670155	T	G	T80670155G	MSH3	NM_002439.5(MSH3):c.638T>G:p.Leu213Ter	coding	Pathogenic
5	80670184	A	T	A80670184T	MSH3	NM_002439.5(MSH3):c.667A>T:p.Lys223Ter	coding	Pathogenic
5	80670238	C	T	C80670238T	MSH3	NM_002439.5(MSH3):c.721C>T:p.Gln241Ter	coding	Pathogenic
5	80670241	C	T	C80670241T	MSH3	NM_002439.5(MSH3):c.724C>T:p.Gln242Ter	coding	Pathogenic
5	80670264	T	A	T80670264A	MSH3	NM_002439.5(MSH3):c.747T>A:p.Cys249Ter	coding	Pathogenic
5	80670279	T	A	T80670279A	MSH3	NM_002439.5(MSH3):c.762T>A:p.Tyr254Ter	coding	Pathogenic
5	80670359	G	A	G80670359A	MSH3	NM_002439.5(MSH3):c.792+50G>A	noncoding	Benign
5	80670378	G	A	G80670378A	MSH3	NM_002439.5(MSH3):c.792+69G>A	noncoding	Benign
5	80670579	A	T	A80670579T	MSH3	NM_002439.5(MSH3):c.792+270A>T	noncoding	Benign
5	80672135	G	C	G80672135C	MSH3	NM_002439.5(MSH3):c.793-109G>C	noncoding	Benign
5	80672439	T	A	T80672439A	MSH3	NM_002439.5(MSH3):c.909+79T>A	noncoding	Benign
5	80672452	A	G	A80672452G	MSH3	NM_002439.5(MSH3):c.909+92A>G	noncoding	Benign
5	80672511	G	A	G80672511A	MSH3	NM_002439.5(MSH3):c.909+151G>A	noncoding	Benign
5	80672677	C	T	C80672677T	MSH3	NM_002439.5(MSH3):c.910-64C>T	noncoding	Benign
5	80675081	G	T	G80675081T	MSH3	NM_002439.5(MSH3):c.1126G>T:p.Glu376Ter	coding	Pathogenic
5	80675099	A	T	A80675099T	MSH3	NM_002439.5(MSH3):c.1144A>T:p.Lys382Ter	coding	Pathogenic
5	80675129	G	A	G80675129A	MSH3	NM_002439.5(MSH3):c.1173+1G>A	coding	Pathogenic
5	80675130	T	G	T80675130G	MSH3	NM_002439.5(MSH3):c.1173+2T>G	noncoding	Pathogenic
5	80678751	G	A	G80678751A	MSH3	NM_002439.5(MSH3):c.1174-176G>A	noncoding	Benign
5	80678827	T	C	T80678827C	MSH3	NM_002439.5(MSH3):c.1174-100T>C	noncoding	Benign
5	80678915	A	G	A80678915G	MSH3	NM_002439.5(MSH3):c.1174-12A>G	noncoding	Benign/Likely_benign
5	80678933	C	T	C80678933T	MSH3	NM_002439.5(MSH3):c.1180C>T:p.Gln394Ter	coding	Pathogenic
5	80678988	C	G	C80678988G	MSH3	NM_002439.5(MSH3):c.1235C>G:p.Ser412Ter	coding	Pathogenic
5	80679164	T	C	T80679164C	MSH3	NM_002439.5(MSH3):c.1340+71T>C	noncoding	Benign
5	80725349	A	C	A80725349C	MSH3	NM_002439.5(MSH3):c.1341-104A>C	noncoding	Benign
5	80725374	C	T	C80725374T	MSH3	NM_002439.5(MSH3):c.1341-79C>T	noncoding	Benign
5	80725540	T	A	T80725540A	MSH3	NM_002439.5(MSH3):c.1428T>A:p.Tyr476Ter	coding	Pathogenic
5	80725580	T	C	T80725580C	MSH3	NM_002439.5(MSH3):c.1453+15T>C	noncoding	Benign
5	80725626	A	C	A80725626C	MSH3	NM_002439.5(MSH3):c.1453+61A>C	noncoding	Benign
5	80725782	C	A	C80725782A	MSH3	NM_002439.5(MSH3):c.1453+217C>A	noncoding	Benign
5	80728615	T	C	T80728615C	MSH3	NM_002439.5(MSH3):c.1454-236T>C	noncoding	Benign
5	80728856	C	T	C80728856T	MSH3	NM_002439.5(MSH3):c.1459C>T:p.Gln487Ter	coding	Pathogenic
5	80728886	A	T	A80728886T	MSH3	NM_002439.5(MSH3):c.1489A>T:p.Lys497Ter	coding	Pathogenic
5	80741474	C	T	C80741474T	MSH3	NM_002439.5(MSH3):c.1579C>T:p.Gln527Ter	coding	Pathogenic
5	80741492	G	T	G80741492T	MSH3	NM_002439.5(MSH3):c.1597G>T:p.Glu533Ter	coding	Pathogenic
5	80744360	T	G	T80744360G	MSH3	NM_002439.5(MSH3):c.1654-146T>G	noncoding	Benign
5	80744538	G	A	G80744538A	MSH3	NM_002439.5(MSH3):c.1686G>A:p.Trp562Ter	coding	Pathogenic
5	80744588	G	A	G80744588A	MSH3	NM_002439.5(MSH3):c.1736G>A:p.Trp579Ter	coding	Pathogenic/Likely_pathogenic
5	80744596	C	T	C80744596T	MSH3	NM_002439.5(MSH3):c.1744C>T:p.Gln582Ter	coding	Pathogenic
5	80744713	A	G	A80744713G	MSH3	NM_002439.5(MSH3):c.1763+98A>G	noncoding	Benign
5	80744855	T	G	T80744855G	MSH3	NM_002439.5(MSH3):c.1763+240T>G	noncoding	Benign
5	80744875	T	C	T80744875C	MSH3	NM_002439.5(MSH3):c.1763+260T>C	noncoding	Benign
5	80761610	C	T	C80761610T	MSH3	NM_002439.5(MSH3):c.1828C>T:p.Gln610Ter	coding	Pathogenic
5	80761696	C	T	C80761696T	MSH3	NM_002439.5(MSH3):c.1896+18C>T	noncoding	Benign
5	80767729	C	G	C80767729G	MSH3	NM_002439.5(MSH3):c.1897-204C>G	noncoding	Benign
5	80767925	A	G	A80767925G	MSH3	NM_002439.5(MSH3):c.1897-8A>G	noncoding	Benign
5	80768977	C	T	C80768977T	MSH3	NM_002439.5(MSH3):c.2227C>T:p.Gln743Ter	coding	Pathogenic
5	80775769	A	G	A80775769G	MSH3	NM_002439.5(MSH3):c.2318+11A>G	noncoding	Benign
5	80778793	C	T	C80778793T	MSH3	NM_002439.5(MSH3):c.2392C>T:p.Gln798Ter	coding	Pathogenic
5	80778821	G	A	G80778821A	MSH3	NM_002439.5(MSH3):c.2420G>A:p.Trp807Ter	coding	Pathogenic
5	80787812	G	A	G80787812A	MSH3	NM_002439.5(MSH3):c.2543+140G>A	noncoding	Benign
5	80792809	C	T	C80792809T	MSH3	NM_002439.5(MSH3):c.2620C>T:p.Gln874Ter	coding	Pathogenic
5	80793082	A	G	A80793082G	MSH3	NM_002439.5(MSH3):c.2655+238A>G	noncoding	Benign
5	80813439	T	C	T80813439C	MSH3	NM_002439.5(MSH3):c.2656-145T>C	noncoding	Benign
5	80813613	C	T	C80813613T	MSH3	NM_002439.5(MSH3):c.2685C>T:p.Thr895=	coding	Benign/Likely_benign
5	80813677	C	T	C80813677T	MSH3	NM_002439.5(MSH3):c.2749C>T:p.Gln917Ter	coding	Pathogenic
5	80853879	G	A	G80853879A	MSH3	NM_002439.5(MSH3):c.2814-251G>A	noncoding	Benign
5	80853883	C	T	C80853883T	MSH3	NM_002439.5(MSH3):c.2814-247C>T	noncoding	Benign
5	80854154	T	A	T80854154A	MSH3	NM_002439.5(MSH3):c.2838T>A:p.Tyr946Ter	coding	Pathogenic
5	80854221	C	T	C80854221T	MSH3	NM_002439.5(MSH3):c.2905C>T:p.Gln969Ter	coding	Pathogenic
5	80854304	T	G	T80854304G	MSH3	NM_002439.5(MSH3):c.2988T>G:p.Tyr996Ter	coding	Pathogenic
5	80864574	A	G	A80864574G	MSH3	NM_002439.5(MSH3):c.3001-239A>G	noncoding	Benign
5	80864791	T	A	T80864791A	MSH3	NM_002439.5(MSH3):c.3001-22T>A	noncoding	Benign
5	80865156	C	G	C80865156G	MSH3	NM_002439.5(MSH3):c.3130+214C>G	noncoding	Benign
5	80872854	A	T	A80872854T	MSH3	NM_002439.5(MSH3):c.3131-262A>T	noncoding	Benign
5	80873127	C	T	C80873127T	MSH3	NM_002439.5(MSH3):c.3142C>T:p.Gln1048Ter	coding	Pathogenic
5	80873205	A	T	A80873205T	MSH3	NM_002439.5(MSH3):c.3220A>T:p.Lys1074Ter	coding	Pathogenic
5	80873351	G	A	G80873351A	MSH3	NM_002439.5(MSH3):c.3302+64G>A	noncoding	Benign
5	80873357	C	T	C80873357T	MSH3	NM_002439.5(MSH3):c.3302+70C>T	noncoding	Benign
5	82276365	G	C	G82276365C	RPS23	NM_001025.5(RPS23):c.285+33C>G	noncoding	Benign
5	83111244	G	A	G83111244A	XRCC4	NM_003401.5(XRCC4):c.315+41G>A	noncoding	Benign
5	83111279	G	A	G83111279A	XRCC4	NM_003401.5(XRCC4):c.315+76G>A	noncoding	Benign
5	83111286	A	G	A83111286G	XRCC4	NM_003401.5(XRCC4):c.315+83A>G	noncoding	Benign
5	83111296	C	T	C83111296T	XRCC4	NM_003401.5(XRCC4):c.315+93C>T	noncoding	Benign
5	83195750	A	G	A83195750G	XRCC4	NM_003401.5(XRCC4):c.316-20A>G	noncoding	Benign
5	83195855	T	C	T83195855C	XRCC4	NM_003401.5(XRCC4):c.401T>C:p.Ile134Thr	coding	Benign/Likely_benign
5	83203488	G	A	G83203488A	XRCC4	NM_003401.5(XRCC4):c.483-64G>A	noncoding	Benign
5	83204915	G	T	G83204915T	XRCC4	NM_003401.5(XRCC4):c.739G>T:p.Ala247Ser	coding	Benign
5	83258319	G	A	G83258319A	XRCC4	NM_003401.5(XRCC4):c.746-211G>A	noncoding	Benign
5	83353009	T	C	T83353009C	XRCC4	NM_003401.5(XRCC4):c.894-122T>C	noncoding	Benign
5	83353124	G	A	G83353124A	XRCC4	NM_003401.5(XRCC4):c.894-7G>A	noncoding	Benign
5	83353158	T	G	T83353158G	XRCC4	NM_003401.5(XRCC4):c.921T>G:p.Ser307=	coding	Benign
5	83353238	T	C	T83353238C	XRCC4	NM_003401.5(XRCC4):c.1001T>C:p.Ile334Thr	coding	Benign
5	83489922	G	T	G83489922T	VCAN	NM_004385.5(VCAN):c.71-176G>T	noncoding	Benign
5	83490080	A	G	A83490080G	VCAN	NM_004385.5(VCAN):c.71-18A>G	noncoding	Benign
5	83512203	C	T	C83512203T	VCAN	NM_004385.5(VCAN):c.849C>T:p.Leu283=	coding	Benign
5	83519497	C	T	C83519497T	VCAN	NM_004385.5(VCAN):c.1191C>T:p.Pro397=	coding	Benign
5	83519536	C	G	C83519536G	VCAN	NM_004385.5(VCAN):c.1230C>G:p.Val410=	coding	Benign
5	83519549	A	G	A83519549G	VCAN	NM_004385.5(VCAN):c.1243A>G:p.Ile415Val	coding	Benign
5	83519557	T	C	T83519557C	VCAN	NM_004385.5(VCAN):c.1251T>C:p.Asp417=	coding	Benign
5	83519702	G	A	G83519702A	VCAN	NM_004385.5(VCAN):c.1396G>A:p.Val466Ile	coding	Benign
5	83519706	C	T	C83519706T	VCAN	NM_004385.5(VCAN):c.1400C>T:p.Ser467Phe	coding	Benign
5	83519719	G	A	G83519719A	VCAN	NM_004385.5(VCAN):c.1413G>A:p.Thr471=	coding	Benign
5	83520081	C	T	C83520081T	VCAN	NM_004385.5(VCAN):c.1775C>T:p.Thr592Ile	coding	Benign
5	83520237	C	T	C83520237T	VCAN	NM_004385.5(VCAN):c.1931C>T:p.Pro644Leu	coding	Benign/Likely_benign
5	83520334	A	G	A83520334G	VCAN	NM_004385.5(VCAN):c.2028A>G:p.Leu676=	coding	Benign
5	83520373	A	G	A83520373G	VCAN	NM_004385.5(VCAN):c.2067A>G:p.Thr689=	coding	Benign
5	83520568	A	T	A83520568T	VCAN	NM_004385.5(VCAN):c.2262A>T:p.Thr754=	coding	Benign
5	83520972	C	T	C83520972T	VCAN	NM_004385.5(VCAN):c.2666C>T:p.Thr889Ile	coding	Benign
5	83521382	A	G	A83521382G	VCAN	NM_004385.5(VCAN):c.3076A>G:p.Ile1026Val	coding	Benign
5	83521402	G	A	G83521402A	VCAN	NM_004385.5(VCAN):c.3096G>A:p.Gln1032=	coding	Benign
5	83522325	C	G	C83522325G	VCAN	NM_004385.5(VCAN):c.4003+16C>G	noncoding	Benign
5	83537009	C	T	C83537009T	VCAN	NM_004385.5(VCAN):c.4006C>T:p.Arg1336Ter	coding	Pathogenic
5	83537602	A	T	A83537602T	VCAN	NM_004385.5(VCAN):c.4599A>T:p.Ala1533=	coding	Benign
5	83537704	A	G	A83537704G	VCAN	NM_004385.5(VCAN):c.4701A>G:p.Glu1567=	coding	Benign
5	83538292	A	T	A83538292T	VCAN	NM_004385.5(VCAN):c.5289A>T:p.Thr1763=	coding	Benign
5	83538866	A	G	A83538866G	VCAN	NM_004385.5(VCAN):c.5863A>G:p.Met1955Val	coding	Benign
5	83540629	T	C	T83540629C	VCAN	NM_004385.5(VCAN):c.7626T>C:p.Asn2542=	coding	Benign
5	83540888	C	A	C83540888A	VCAN	NM_004385.5(VCAN):c.7885C>A:p.Leu2629Ile	coding	Benign
5	83541070	G	A	G83541070A	VCAN	NM_004385.5(VCAN):c.8067G>A:p.Thr2689=	coding	Benign
5	83541116	G	T	G83541116T	VCAN	NM_004385.5(VCAN):c.8113G>T:p.Glu2705Ter	coding	Pathogenic
5	83545408	T	A	T83545408A	VCAN	NM_004385.5(VCAN):c.9266-129T>A	noncoding	Benign
5	83545637	C	T	C83545637T	VCAN	NM_004385.5(VCAN):c.9366C>T:p.Asp3122=	coding	Benign
5	83547790	G	A	G83547790A	VCAN	NM_004385.5(VCAN):c.9380-181G>A	noncoding	Benign
5	83553301	T	A	T83553301A	VCAN	NM_004385.5(VCAN):c.9494-63T>A	noncoding	Benign
5	83553542	G	C	G83553542C	VCAN	NM_004385.5(VCAN):c.9652+20G>C	noncoding	Benign
5	83554768	C	T	C83554768T	VCAN	NM_004385.5(VCAN):c.9653-188C>T	noncoding	Benign
5	83554812	A	G	A83554812G	VCAN	NM_004385.5(VCAN):c.9653-144A>G	noncoding	Benign
5	83572354	G	A	G83572354A	VCAN	NM_004385.5(VCAN):c.9736-62G>A	noncoding	Benign
5	83580053	C	T	C83580053T	VCAN	NM_004385.5(VCAN):c.9954C>T:p.Asn3318=	coding	Benign
5	83580365	G	A	G83580365A	VCAN	NM_004385.5(VCAN):c.10122G>A:p.Lys3374=	coding	Benign
5	87268153	T	G	T87268153G	RASA1	NM_002890.3(RASA1):c.-299T>G	noncoding	Benign
5	87268577	G	T	G87268577T	RASA1	NM_002890.3(RASA1):c.126G>T:p.Leu42=	coding	Benign/Likely_benign
5	87269178	T	A	T87269178A	RASA1	NM_002890.3(RASA1):c.539+188T>A	noncoding	Benign
5	87269310	A	G	A87269310G	RASA1	NM_002890.3(RASA1):c.539+320A>G	noncoding	Benign
5	87331351	G	A	G87331351A	RASA1	NM_002890.3(RASA1):c.543G>A:p.Trp181Ter	coding	Pathogenic
5	87332349	A	G	A87332349G	RASA1	NM_002890.3(RASA1):c.693-158A>G	noncoding	Benign
5	87332582	C	A	C87332582A	RASA1	NM_002890.3(RASA1):c.768C>A:p.Tyr256Ter	coding	Pathogenic
5	87333074	G	A	G87333074A	RASA1	NM_002890.3(RASA1):c.829-193G>A	noncoding	Benign
5	87338156	G	A	G87338156A	RASA1	NM_002890.3(RASA1):c.1017+65G>A	noncoding	Benign
5	87341361	A	G	A87341361G	RASA1	NM_002890.3(RASA1):c.1049+40A>G	noncoding	Benign
5	87349197	C	T	C87349197T	RASA1	NM_002890.3(RASA1):c.1103-17C>T	noncoding	Benign
5	87349213	G	T	G87349213T	RASA1	NM_002890.3(RASA1):c.1103-1G>T	noncoding	Pathogenic
5	87362554	C	T	C87362554T	RASA1	NM_002890.3(RASA1):c.1336C>T:p.Gln446Ter	coding	Pathogenic
5	87363533	C	T	C87363533T	RASA1	NM_002890.3(RASA1):c.1610+29C>T	noncoding	Benign
5	87369901	G	A	G87369901A	RASA1	NM_002890.3(RASA1):c.1698+1G>A	coding	Pathogenic
5	87371986	T	C	T87371986C	RASA1	NM_002890.3(RASA1):c.1699-132T>C	noncoding	Benign
5	87374256	C	T	C87374256T	RASA1	NM_002890.3(RASA1):c.1870C>T:p.Gln624Ter	coding	Pathogenic
5	87374461	T	A	T87374461A	RASA1	NM_002890.3(RASA1):c.1934+141T>A	noncoding	Benign
5	87374972	A	G	A87374972G	RASA1	NM_002890.3(RASA1):c.2011+56A>G	noncoding	Benign
5	87375153	T	C	T87375153C	RASA1	NM_002890.3(RASA1):c.2011+237T>C	noncoding	Benign
5	87376391	A	G	A87376391G	RASA1	NM_002890.3(RASA1):c.2012-2A>G	noncoding	Pathogenic
5	87376726	A	G	A87376726G	RASA1	NM_002890.3(RASA1):c.2185-155A>G	noncoding	Benign
5	87376935	C	T	C87376935T	RASA1	NM_002890.3(RASA1):c.2239C>T:p.Gln747Ter	coding	Pathogenic
5	87376955	C	T	C87376955T	RASA1	NM_002890.3(RASA1):c.2259C>T:p.Ala753_Ser754=	coding	Benign/Likely_benign
5	87378473	C	T	C87378473T	RASA1	NM_002890.3(RASA1):c.2422C>T:p.Gln808Ter	coding	Pathogenic
5	87379892	A	G	A87379892G	RASA1	NM_002890.3(RASA1):c.2603+42A>G	noncoding	Benign
5	87380560	G	A	G87380560A	RASA1	NM_002890.3(RASA1):c.2655G>A:p.Trp885Ter	coding	Pathogenic
5	87383649	T	C	T87383649C	RASA1	NM_002890.3(RASA1):c.2691-64T>C	noncoding	Benign
5	87383702	C	T	C87383702T	RASA1	NM_002890.3(RASA1):c.2691-11C>T	noncoding	Benign/Likely_benign
5	87385111	T	C	T87385111C	RASA1	NM_002890.3(RASA1):c.2759-190T>C	noncoding	Benign
5	87385308	A	T	A87385308T	RASA1	NM_002890.3(RASA1):c.2766A>T:p.Pro922_Ser923=	coding	Benign/Likely_benign
5	87386904	G	T	G87386904T	CCNH;RASA1	NM_002890.3(RASA1):c.2925+1G>T	coding	Pathogenic
5	87389741	A	C	A87389741C	RASA1	NM_002890.3(RASA1):c.3060+214A>C	noncoding	Benign
5	87390752	T	C	T87390752C	RASA1	NM_002890.3(RASA1):c.3061-48T>C	noncoding	Benign
5	87390774	T	C	T87390774C	RASA1	NM_002890.3(RASA1):c.3061-26T>C	noncoding	Benign
5	87390871	T	C	T87390871C	RASA1	NM_002890.3(RASA1):c.3132T>C:p.Asn1044_Asp1045=	coding	Benign/Likely_benign
5	88480873	T	G	T88480873G	-	Single_allele	noncoding	Benign
5	88728487	G	C	G88728487C	MEF2C	NM_002397.5(MEF2C):c.1100+6C>G	noncoding	Benign
5	88729322	G	T	G88729322T	MEF2C	NM_002397.5(MEF2C):c.860C>A:p.Ser287Ter	coding	Pathogenic
5	88730524	A	G	A88730524G	MEF2C	NM_002397.5(MEF2C):c.811-290T>C	noncoding	Benign
5	88731845	A	C	A88731845C	MEF2C	NM_002397.5(MEF2C):c.694T>G:p.Leu232Val	coding	Benign
5	88751857	C	G	C88751857G	MEF2C	NM_002397.5(MEF2C):c.589G>C:p.Gly197Arg	coding	Benign
5	88751889	A	G	A88751889G	MEF2C	NM_002397.5(MEF2C):c.557T>C:p.Val186Ala	coding	Benign
5	88760977	T	C	T88760977C	MEF2C	NM_002397.5(MEF2C):c.402+208A>G	noncoding	Benign
5	88761169	T	C	T88761169C	MEF2C	NM_002397.5(MEF2C):c.402+16A>G	noncoding	Benign
5	88761212	A	C	A88761212C	MEF2C	NM_002397.5(MEF2C):c.375T>G:p.Asp125Glu	coding	Benign
5	88761329	C	T	C88761329T	MEF2C	NM_002397.5(MEF2C):c.259-1G>A	coding	Pathogenic
5	88804636	C	A	C88804636A	MEF2C	NM_002397.5(MEF2C):c.220G>T:p.Glu74Ter	coding	Pathogenic
5	88823745	C	G	C88823745G	MEF2C	NM_002397.5(MEF2C):c.44G>C:p.Arg15Pro	coding	Pathogenic
5	88823796	G	A	G88823796A	MEF2C	NM_002397.5(MEF2C):c.-8C>T	noncoding	Pathogenic
5	88823814	G	A	G88823814A	MEF2C	NM_002397.5(MEF2C):c.-26C>T	noncoding	Pathogenic
5	88823854	T	A	T88823854A	MEF2C	NM_002397.5(MEF2C):c.-66A>T	noncoding	Pathogenic
5	88882866	T	C	T88882866C	MEF2C	NM_002397.5(MEF2C):c.-143+89A>G	noncoding	Benign
5	88887496	A	G	A88887496G	MEF2C	NM_001131005.2(MEF2C):c.-143+6T>C	noncoding	Benign
5	88887834	A	G	A88887834G	MEF2C	NM_001131005.2(MEF2C):c.-239-236T>C	noncoding	Benign
5	90558495	C	G	C90558495G	ADGRV1	Single_allele	noncoding	Benign
5	90558666	G	A	G90558666A	ADGRV1	Single_allele	noncoding	Benign
5	90614705	G	A	G90614705A	ADGRV1	NM_032119.4(ADGRV1):c.23-130G>A	noncoding	Benign
5	90618797	C	T	C90618797T	ADGRV1	NM_032119.4(ADGRV1):c.358-289C>T	noncoding	Benign
5	90618887	C	G	C90618887G	ADGRV1	NM_032119.4(ADGRV1):c.358-199C>G	noncoding	Benign
5	90618937	A	G	A90618937G	ADGRV1	NM_032119.4(ADGRV1):c.358-149A>G	noncoding	Benign
5	90619204	A	C	A90619204C	ADGRV1	NM_032119.4(ADGRV1):c.453+23A>C	noncoding	Benign
5	90622415	C	A	C90622415A	ADGRV1	NM_032119.4(ADGRV1):c.454-182C>A	noncoding	Benign
5	90622428	T	C	T90622428C	ADGRV1	NM_032119.4(ADGRV1):c.454-169T>C	noncoding	Benign
5	90622643	T	C	T90622643C	ADGRV1	NM_032119.4(ADGRV1):c.500T>C:p.Met167Thr	coding	Benign
5	90624877	T	C	T90624877C	ADGRV1	NM_032119.4(ADGRV1):c.559-253T>C	noncoding	Benign
5	90626946	G	A	G90626946A	ADGRV1	NM_032119.4(ADGRV1):c.673-265G>A	noncoding	Benign
5	90628800	C	T	C90628800T	ADGRV1	NM_032119.4(ADGRV1):c.1477C>T:p.Arg493Ter	coding	Pathogenic/Likely_pathogenic
5	90629761	A	G	A90629761G	ADGRV1	NM_032119.4(ADGRV1):c.1839+222A>G	noncoding	Benign
5	90637379	A	G	A90637379G	ADGRV1	NM_032119.4(ADGRV1):c.2017-346A>G	noncoding	Benign
5	90638257	G	A	G90638257A	ADGRV1	NM_032119.4(ADGRV1):c.2240+309G>A	noncoding	Benign
5	90642443	T	C	T90642443C	ADGRV1	NM_032119.4(ADGRV1):c.2241-193T>C	noncoding	Benign
5	90642487	T	A	T90642487A	ADGRV1	NM_032119.4(ADGRV1):c.2241-149T>A	noncoding	Benign
5	90642642	C	T	C90642642T	ADGRV1	NM_032119.4(ADGRV1):c.2247C>T:p.Asn749=	coding	Benign/Likely_benign
5	90643663	G	A	G90643663A	ADGRV1	NM_032119.4(ADGRV1):c.2554-140G>A	noncoding	Benign
5	90643956	G	T	G90643956T	ADGRV1	NM_032119.4(ADGRV1):c.2707G>T:p.Glu903Ter	coding	Pathogenic
5	90644288	C	T	C90644288T	ADGRV1	NM_032119.4(ADGRV1):c.2734+305C>T	noncoding	Benign
5	90644729	C	T	C90644729T	ADGRV1	NM_032119.4(ADGRV1):c.2758C>T:p.Arg920Ter	coding	Pathogenic
5	90647838	A	G	A90647838G	ADGRV1	NM_032119.4(ADGRV1):c.3289+74A>G	noncoding	Benign
5	90647874	C	T	C90647874T	ADGRV1	NM_032119.4(ADGRV1):c.3289+110C>T	noncoding	Benign
5	90651878	G	A	G90651878A	ADGRV1	NM_032119.4(ADGRV1):c.3416+148G>A	noncoding	Benign
5	90652182	T	C	T90652182C	ADGRV1	NM_032119.4(ADGRV1):c.3417-164T>C	noncoding	Benign
5	90652359	C	T	C90652359T	ADGRV1	NM_032119.4(ADGRV1):c.3430C>T:p.Arg1144Ter	coding	Pathogenic
5	90652521	G	T	G90652521T	ADGRV1	NM_032119.4(ADGRV1):c.3592G>T:p.Glu1198Ter	coding	Pathogenic
5	90653315	G	A	G90653315A	ADGRV1	NM_032119.4(ADGRV1):c.3741G>A:p.Glu1247=	coding	Benign/Likely_benign
5	90657733	T	A	T90657733A	ADGRV1	NM_032119.4(ADGRV1):c.4379-172T>A	noncoding	Benign
5	90658131	G	A	G90658131A	ADGRV1	NM_032119.4(ADGRV1):c.4605G>A:p.Glu1535=	coding	Benign
5	90658156	A	T	A90658156T	ADGRV1	NM_032119.4(ADGRV1):c.4630A>T:p.Lys1544Ter	coding	Pathogenic
5	90672272	A	C	A90672272C	ADGRV1	NM_032119.4(ADGRV1):c.4753-274A>C	noncoding	Benign
5	90672349	G	C	G90672349C	ADGRV1	NM_032119.4(ADGRV1):c.4753-197G>C	noncoding	Benign
5	90674283	T	C	T90674283C	ADGRV1	NM_032119.4(ADGRV1):c.5110+49T>C	noncoding	Benign
5	90674341	C	T	C90674341T	ADGRV1	NM_032119.4(ADGRV1):c.5110+107C>T	noncoding	Benign
5	90674414	T	C	T90674414C	ADGRV1	NM_032119.4(ADGRV1):c.5110+180T>C	noncoding	Benign
5	90679253	C	T	C90679253T	ADGRV1	NM_032119.4(ADGRV1):c.5444-296C>T	noncoding	Benign
5	90679385	A	G	A90679385G	ADGRV1	NM_032119.4(ADGRV1):c.5444-164A>G	noncoding	Benign
5	90679810	A	G	A90679810G	ADGRV1	NM_032119.4(ADGRV1):c.5524+181A>G	noncoding	Benign
5	90683849	T	A	T90683849A	ADGRV1	NM_032119.4(ADGRV1):c.5928T>A:p.Tyr1976Ter	coding	Pathogenic
5	90685812	G	T	G90685812T	ADGRV1	NM_032119.4(ADGRV1):c.6307G>T:p.Glu2103Ter	coding	Pathogenic
5	90685887	C	T	C90685887T	ADGRV1	NM_032119.4(ADGRV1):c.6382C>T:p.Arg2128Ter	coding	Pathogenic
5	90689980	C	T	C90689980T	ADGRV1	NM_032119.4(ADGRV1):c.6610C>T:p.Gln2204Ter	coding	Pathogenic/Likely_pathogenic
5	90690070	T	C	T90690070C	ADGRV1	NM_032119.4(ADGRV1):c.6700T>C:p.Leu2234=	coding	Benign
5	90690573	C	A	C90690573A	ADGRV1	NM_032119.4(ADGRV1):c.6707-224C>A	noncoding	Benign
5	90690702	G	C	G90690702C	ADGRV1	NM_032119.4(ADGRV1):c.6707-95G>C	noncoding	Benign
5	90691146	T	G	T90691146G	ADGRV1	NM_032119.4(ADGRV1):c.6951+105T>G	noncoding	Benign
5	90691236	A	G	A90691236G	ADGRV1	NM_032119.4(ADGRV1):c.6951+195A>G	noncoding	Benign
5	90694557	C	T	C90694557T	ADGRV1	NM_032119.4(ADGRV1):c.7801C>T:p.Gln2601Ter	coding	Pathogenic
5	90703918	G	A	G90703918A	ADGRV1	NM_032119.4(ADGRV1):c.8286+123G>A	noncoding	Benign
5	90704137	T	C	T90704137C	ADGRV1	NM_032119.4(ADGRV1):c.8287-252T>C	noncoding	Benign
5	90704378	G	C	G90704378C	ADGRV1	NM_032119.4(ADGRV1):c.8287-11G>C	noncoding	Benign
5	90704732	C	A	C90704732A	ADGRV1	NM_032119.4(ADGRV1):c.8386+244C>A	noncoding	Benign
5	90706364	A	T	A90706364T	ADGRV1	NM_032119.4(ADGRV1):c.8700A>T:p.Thr2900=	coding	Benign/Likely_benign
5	90706405	T	C	T90706405C	ADGRV1	NM_032119.4(ADGRV1):c.8730+11T>C	noncoding	Benign
5	90706476	A	G	A90706476G	ADGRV1	NM_032119.4(ADGRV1):c.8730+82A>G	noncoding	Benign
5	90709160	C	T	C90709160T	ADGRV1	NM_032119.4(ADGRV1):c.8824+251C>T	noncoding	Benign
5	90710941	A	G	A90710941G	ADGRV1	NM_032119.4(ADGRV1):c.8825-40A>G	noncoding	Benign
5	90711031	C	T	C90711031T	ADGRV1	NM_032119.4(ADGRV1):c.8875C>T:p.Arg2959Ter	coding	Pathogenic
5	90712230	A	G	A90712230G	ADGRV1	NM_032119.4(ADGRV1):c.9043-57A>G	noncoding	Benign
5	90716607	C	T	C90716607T	ADGRV1	NM_032119.4(ADGRV1):c.9325C>T:p.Gln3109Ter	coding	Pathogenic
5	90716712	G	T	G90716712T	ADGRV1	NM_032119.4(ADGRV1):c.9430G>T:p.Glu3144Ter	coding	Pathogenic
5	90716961	A	G	A90716961G	ADGRV1	NM_032119.4(ADGRV1):c.9447+232A>G	noncoding	Benign
5	90720607	A	G	A90720607G	ADGRV1	NM_032119.4(ADGRV1):c.9624-328A>G	noncoding	Benign
5	90720910	C	T	C90720910T	ADGRV1	NM_032119.4(ADGRV1):c.9624-25C>T	noncoding	Benign
5	90721243	G	A	G90721243A	ADGRV1	NM_032119.4(ADGRV1):c.9748+184G>A	noncoding	Benign
5	90724571	G	A	G90724571A	ADGRV1	NM_032119.4(ADGRV1):c.9749-261G>A	noncoding	Benign
5	90724710	G	A	G90724710A	ADGRV1	NM_032119.4(ADGRV1):c.9749-122G>A	noncoding	Benign
5	90724892	G	A	G90724892A	ADGRV1	NM_032119.4(ADGRV1):c.9809G>A:p.Trp3270Ter	coding	Pathogenic
5	90725070	A	C	A90725070C	ADGRV1	NM_032119.4(ADGRV1):c.9907-16A>C	noncoding	Benign/Likely_benign
5	90725547	A	C	A90725547C	ADGRV1	NM_032119.4(ADGRV1):c.10054-2A>C	noncoding	Pathogenic
5	90725548	G	T	G90725548T	ADGRV1	NM_032119.4(ADGRV1):c.10054-1G>T	noncoding	Pathogenic
5	90725682	G	T	G90725682T	ADGRV1	NM_032119.4(ADGRV1):c.10161+26G>T	noncoding	Benign
5	90728467	A	T	A90728467T	ADGRV1	NM_032119.4(ADGRV1):c.10162-202A>T	noncoding	Benign
5	90728650	A	T	A90728650T	ADGRV1	NM_032119.4(ADGRV1):c.10162-19A>T	noncoding	Benign
5	90728985	C	G	C90728985G	ADGRV1	NM_032119.4(ADGRV1):c.10426+52C>G	noncoding	Benign
5	90729336	T	G	T90729336G	ADGRV1	NM_032119.4(ADGRV1):c.10427-306T>G	noncoding	Benign
5	90729345	G	A	G90729345A	ADGRV1	NM_032119.4(ADGRV1):c.10427-297G>A	noncoding	Benign
5	90729672	G	A	G90729672A	ADGRV1	NM_032119.4(ADGRV1):c.10457G>A:p.Trp3486Ter	coding	Pathogenic
5	90745045	G	A	G90745045A	ADGRV1	NM_032119.4(ADGRV1):c.10550-1G>A	noncoding	Pathogenic
5	90745408	G	A	G90745408A	ADGRV1	NM_032119.4(ADGRV1):c.10769+143G>A	noncoding	Benign
5	90745471	G	A	G90745471A	ADGRV1	NM_032119.4(ADGRV1):c.10770-120G>A	noncoding	Benign
5	90745567	T	C	T90745567C	ADGRV1	NM_032119.4(ADGRV1):c.10770-24T>C	noncoding	Benign
5	90745617	G	C	G90745617C	ADGRV1	NM_032119.4(ADGRV1):c.10796G>C:p.Gly3599Ala	coding	Benign
5	90745793	C	T	C90745793T	ADGRV1	NM_032119.4(ADGRV1):c.10972C>T:p.Gln3658Ter	coding	Pathogenic
5	90746081	G	A	G90746081A	ADGRV1	NM_032119.4(ADGRV1):c.10974+286G>A	noncoding	Benign
5	90750719	A	G	A90750719G	ADGRV1	NM_032119.4(ADGRV1):c.11121+22A>G	noncoding	Benign
5	90750927	T	C	T90750927C	ADGRV1	NM_032119.4(ADGRV1):c.11121+230T>C	noncoding	Benign
5	90753240	T	C	T90753240C	ADGRV1	NM_032119.4(ADGRV1):c.11122-334T>C	noncoding	Benign
5	90753271	C	A	C90753271A	ADGRV1	NM_032119.4(ADGRV1):c.11122-303C>A	noncoding	Benign
5	90754003	C	T	C90754003T	ADGRV1	NM_032119.4(ADGRV1):c.11377+174C>T	noncoding	Benign
5	90754963	G	A	G90754963A	ADGRV1	NM_032119.4(ADGRV1):c.11378-20G>A	noncoding	Benign/Likely_benign
5	90757463	T	C	T90757463C	ADGRV1	NM_032119.4(ADGRV1):c.11940+302T>C	noncoding	Benign
5	90759061	T	A	T90759061A	ADGRV1	NM_032119.4(ADGRV1):c.11941-348T>A	noncoding	Benign
5	90759264	A	G	A90759264G	ADGRV1	NM_032119.4(ADGRV1):c.11941-145A>G	noncoding	Benign
5	90759362	C	G	C90759362G	ADGRV1	NM_032119.4(ADGRV1):c.11941-47C>G	noncoding	Benign
5	90759636	A	G	A90759636G	ADGRV1	NM_032119.4(ADGRV1):c.12120+48A>G	noncoding	Benign
5	90763165	T	G	T90763165G	ADGRV1	NM_032119.4(ADGRV1):c.12121-140T>G	noncoding	Benign
5	90763275	G	T	G90763275T	ADGRV1	NM_032119.4(ADGRV1):c.12121-30G>T	noncoding	Benign
5	90763327	C	A	C90763327A	ADGRV1	NM_032119.4(ADGRV1):c.12143C>A:p.Ser4048Ter	coding	Pathogenic
5	90763395	C	T	C90763395T	ADGRV1	NM_032119.4(ADGRV1):c.12211C>T:p.Arg4071Ter	coding	Pathogenic
5	90773861	T	C	T90773861C	ADGRV1	NM_032119.4(ADGRV1):c.12286-325T>C	noncoding	Benign
5	90774077	G	C	G90774077C	ADGRV1	NM_032119.4(ADGRV1):c.12286-109G>C	noncoding	Benign
5	90774261	C	T	C90774261T	ADGRV1	NM_032119.4(ADGRV1):c.12361C>T:p.Gln4121Ter	coding	Pathogenic
5	90776394	C	T	C90776394T	ADGRV1	NM_032119.4(ADGRV1):c.12404-59C>T	noncoding	Benign
5	90776546	C	G	C90776546G	ADGRV1	NM_032119.4(ADGRV1):c.12497C>G:p.Ser4166Ter	coding	Pathogenic/Likely_pathogenic
5	90777912	C	T	C90777912T	ADGRV1	NM_032119.4(ADGRV1):c.12535C>T:p.Arg4179Ter	coding	Pathogenic
5	90778589	C	T	C90778589T	ADGRV1	NM_032119.4(ADGRV1):c.12829C>T:p.Arg4277Ter	coding	Pathogenic
5	90778993	A	G	A90778993G	ADGRV1	NM_032119.4(ADGRV1):c.12978A>G:p.Ala4326=	coding	Benign/Likely_benign
5	90779223	T	G	T90779223G	ADGRV1	NM_032119.4(ADGRV1):c.13082+126T>G	noncoding	Benign
5	90781211	G	A	G90781211A	ADGRV1	NM_032119.4(ADGRV1):c.13083-219G>A	noncoding	Benign
5	90781734	C	T	C90781734T	ADGRV1	NM_032119.4(ADGRV1):c.13231+156C>T	noncoding	Benign
5	90783147	A	G	A90783147G	ADGRV1	NM_032119.4(ADGRV1):c.13255A>G:p.Met4419Val	coding	Benign
5	90788019	G	A	G90788019A	ADGRV1	NM_032119.4(ADGRV1):c.13654-52G>A	noncoding	Benign
5	90788304	A	G	A90788304G	ADGRV1	NM_032119.4(ADGRV1):c.13887A>G:p.Thr4629=	coding	Benign
5	90789926	A	G	A90789926G	ADGRV1	NM_032119.4(ADGRV1):c.14043+75A>G	noncoding	Benign
5	90790775	T	A	T90790775A	ADGRV1	NM_032119.4(ADGRV1):c.14044-98T>A	noncoding	Benign
5	90791233	C	T	C90791233T	ADGRV1	NM_032119.4(ADGRV1):c.14404C>T:p.Arg4802Ter	coding	Pathogenic
5	90791621	A	G	A90791621G	ADGRV1	NM_032119.4(ADGRV1):c.14517+275A>G	noncoding	Benign
5	90805035	T	C	T90805035C	ADGRV1	NM_032119.4(ADGRV1):c.14662-249T>C	noncoding	Benign
5	90807736	C	T	C90807736T	ADGRV1	NM_032119.4(ADGRV1):c.14971C>T:p.Arg4991Ter	coding	Pathogenic
5	90807953	A	G	A90807953G	ADGRV1	NM_032119.4(ADGRV1):c.14972+216A>G	noncoding	Benign
5	90810235	C	G	C90810235G	ADGRV1	NM_032119.4(ADGRV1):c.14975C>G:p.Ser4992Ter	coding	Pathogenic/Likely_pathogenic
5	90810740	C	A	C90810740A	ADGRV1	NM_032119.4(ADGRV1):c.15480C>A:p.Tyr5160Ter	coding	Pathogenic
5	90810996	C	T	C90810996T	ADGRV1	NM_032119.4(ADGRV1):c.15736C>T:p.Arg5246Ter	coding	Pathogenic
5	90815538	T	A	T90815538A	ADGRV1	NM_032119.4(ADGRV1):c.16079-81T>A	noncoding	Benign
5	90815687	G	T	G90815687T	ADGRV1	NM_032119.4(ADGRV1):c.16147G>T:p.Gly5383Ter	coding	Pathogenic
5	90823168	A	G	A90823168G	ADGRV1	NM_032119.4(ADGRV1):c.16197-257A>G	noncoding	Benign
5	90823381	G	A	G90823381A	ADGRV1	NM_032119.4(ADGRV1):c.16197-44G>A	noncoding	Benign
5	90823388	C	T	C90823388T	ADGRV1	NM_032119.4(ADGRV1):c.16197-37C>T	noncoding	Benign
5	90823394	G	A	G90823394A	ADGRV1	NM_032119.4(ADGRV1):c.16197-31G>A	noncoding	Benign
5	90828942	A	G	A90828942G	ADGRV1	NM_032119.4(ADGRV1):c.16369-2A>G	noncoding	Pathogenic
5	90840277	C	T	C90840277T	ADGRV1	NM_032119.4(ADGRV1):c.16612-301C>T	noncoding	Benign
5	90840852	G	A	G90840852A	ADGRV1	NM_032119.4(ADGRV1):c.16886G>A:p.Trp5629Ter	coding	Pathogenic
5	90848530	T	A	T90848530A	ADGRV1	NM_032119.4(ADGRV1):c.17020-107T>A	noncoding	Benign
5	90848812	C	T	C90848812T	ADGRV1	NM_032119.4(ADGRV1):c.17195C>T:p.Pro5732Leu	coding	Pathogenic
5	90848851	C	A	C90848851A	ADGRV1	NM_032119.4(ADGRV1):c.17204+30C>A	noncoding	Benign
5	90863878	T	A	T90863878A	ADGRV1	NM_032119.4(ADGRV1):c.17856+21T>A	noncoding	Benign
5	90864072	C	T	C90864072T	ADGRV1	NM_032119.4(ADGRV1):c.17856+215C>T	noncoding	Benign
5	90965604	A	G	A90965604G	ADGRV1	NM_032119.4(ADGRV1):c.17973+73A>G	noncoding	Benign
5	90985228	A	G	A90985228G	ADGRV1	NM_032119.4(ADGRV1):c.17974-116A>G	noncoding	Benign
5	90985395	C	T	C90985395T	ADGRV1	NM_032119.4(ADGRV1):c.18025C>T:p.Arg6009Ter	coding	Pathogenic
5	90985410	T	C	T90985410C	ADGRV1	NM_032119.4(ADGRV1):c.18040T>C:p.Phe6014Leu	coding	Benign
5	91101912	A	G	A91101912G	ADGRV1	NM_032119.4(ADGRV1):c.18311-307A>G	noncoding	Benign
5	91102100	C	T	C91102100T	ADGRV1	NM_032119.4(ADGRV1):c.18311-119C>T	noncoding	Benign
5	91102197	A	G	A91102197G	ADGRV1	NM_032119.4(ADGRV1):c.18311-22A>G	noncoding	Benign
5	91102303	G	A	G91102303A	ADGRV1	NM_032119.4(ADGRV1):c.18395G>A:p.Trp6132Ter	coding	Pathogenic
5	91102452	T	C	T91102452C	ADGRV1	NM_032119.4(ADGRV1):c.18432+112T>C	noncoding	Benign
5	91150466	C	T	C91150466T	ADGRV1	NM_032119.4(ADGRV1):c.18624+245C>T	noncoding	Benign
5	93585105	C	T	C93585105T	NR2F1	NM_005654.6(NR2F1):c.82C>T:p.Gln28Ter	coding	Pathogenic
5	93585215	C	T	C93585215T	NR2F1	NM_005654.6(NR2F1):c.192C>T:p.Pro64=	coding	Benign/Likely_benign
5	93585260	G	C	G93585260C	NR2F1	NM_005654.6(NR2F1):c.237G>C:p.Gln79His	coding	Benign/Likely_benign
5	93585309	A	G	A93585309G	NR2F1	NM_005654.6(NR2F1):c.286A>G:p.Lys96Glu	coding	Pathogenic
5	93585315	T	C	T93585315C	NR2F1	NM_005654.6(NR2F1):c.292T>C:p.Tyr98His	coding	Pathogenic
5	93585333	G	A	G93585333A	NR2F1	NM_005654.6(NR2F1):c.310G>A:p.Glu104Lys	coding	Pathogenic
5	93585340	G	A	G93585340A	NR2F1	NM_005654.6(NR2F1):c.317G>A:p.Cys106Tyr	coding	Pathogenic/Likely_pathogenic
5	93585475	T	A	T93585475A	NR2F1	NM_005654.6(NR2F1):c.452T>A:p.Met151Lys	coding	Pathogenic
5	93587874	C	T	C93587874T	NR2F1	NM_005654.6(NR2F1):c.464-43C>T	noncoding	Benign
5	93587966	C	G	C93587966G	NR2F1	NM_005654.6(NR2F1):c.513C>G:p.Tyr171Ter	coding	Pathogenic
5	93588157	G	T	G93588157T	NR2F1	NM_005654.6(NR2F1):c.704G>T:p.Arg235Leu	coding	Pathogenic
5	93588280	T	A	T93588280A	NR2F1	NM_005654.6(NR2F1):c.827T>A:p.Leu276Ter	coding	Pathogenic
5	93588360	C	T	C93588360T	NR2F1	NM_005654.6(NR2F1):c.907C>T:p.Gln303Ter	coding	Pathogenic
5	93593563	C	T	C93593563T	NR2F1	NM_005654.6(NR2F1):c.993C>T:p.Asp331=	coding	Benign
5	93593578	G	A	G93593578A	NR2F1	NM_005654.6(NR2F1):c.1008G>A:p.Ser336=	coding	Benign/Likely_benign
5	93593767	C	T	C93593767T	NR2F1	NM_005654.6(NR2F1):c.1197C>T:p.Ile399=	coding	Benign
5	93593852	G	A	G93593852A	NR2F1	NM_005654.6(NR2F1):c.*10G>A	noncoding	Benign
5	93593892	C	T	C93593892T	NR2F1	NM_005654.6(NR2F1):c.*50C>T	noncoding	Benign
5	94396280	A	G	A94396280G	KIAA0825	NM_001145678.3(KIAA0825):c.3117T>C:p.Ser1039=	coding	Benign
5	94417312	C	T	C94417312T	KIAA0825	NM_001145678.3(KIAA0825):c.2551G>A:p.Ala851Thr	coding	Benign
5	95464530	C	T	C95464530T	TTC37	NM_014639.4(TTC37):c.*77G>A	noncoding	Benign
5	95464799	T	C	T95464799C	TTC37	NM_014639.4(TTC37):c.4621-118A>G	noncoding	Benign
5	95464843	G	A	G95464843A	TTC37	NM_014639.4(TTC37):c.4621-162C>T	noncoding	Benign
5	95482583	G	A	G95482583A	SKIC3	NM_014639.4(SKIC3):c.4102C>T:p.Gln1368Ter	coding	Pathogenic
5	95482604	C	T	C95482604T	SKIC3	NM_014639.4(SKIC3):c.4081G>A:p.Ala1361Thr	coding	Benign
5	95484935	G	A	G95484935A	TTC37	NM_014639.4(TTC37):c.3932-90C>T	noncoding	Benign
5	95490889	G	T	G95490889T	SKIC3	NM_014639.4(SKIC3):c.3931+19C>A	noncoding	Benign
5	95490926	A	G	A95490926G	SKIC3	NM_014639.4(SKIC3):c.3913T>C:p.Ser1305Pro	coding	Benign
5	95490951	C	A	C95490951A	SKIC3	NM_014639.4(SKIC3):c.3888G>T:p.Arg1296Ser	coding	Benign
5	95497228	A	G	A95497228G	TTC37	NM_014639.4(TTC37):c.3636+188T>C	noncoding	Benign
5	95497405	C	T	C95497405T	SKIC3	NM_014639.4(SKIC3):c.3636+11G>A	noncoding	Benign
5	95497427	G	A	G95497427A	TTC37	NM_014639.4(TTC37):c.3625C>T:p.Arg1209Ter	coding	Pathogenic/Likely_pathogenic
5	95506915	G	C	G95506915C	SKIC3	NM_014639.4(SKIC3):c.3092+19C>G	noncoding	Benign/Likely_benign
5	95506969	G	T	G95506969T	TTC37	NM_014639.4(TTC37):c.3057C>A:p.Tyr1019Ter	coding	Pathogenic
5	95512241	A	C	A95512241C	TTC37	NM_014639.4(TTC37):c.2920+236T>G	noncoding	Benign
5	95513556	T	C	T95513556C	SKIC3	NM_014639.4(SKIC3):c.2778+15A>G	noncoding	Benign
5	95516092	A	G	A95516092G	TTC37	NM_014639.4(TTC37):c.2634+261T>C	noncoding	Benign
5	95516476	G	A	G95516476A	TTC37	NM_014639.4(TTC37):c.2577+49C>T	noncoding	Benign
5	95517338	T	C	T95517338C	SKIC3	NM_014639.4(SKIC3):c.2115-16A>G	noncoding	Benign
5	95520738	T	A	T95520738A	TTC37	NM_014639.4(TTC37):c.2092A>T:p.Lys698Ter	coding	Pathogenic
5	95522141	G	A	G95522141A	TTC37	NM_014639.4(TTC37):c.1924C>T:p.Gln642Ter	coding	Pathogenic
5	95522257	G	T	G95522257T	TTC37	NM_014639.4(TTC37):c.1808C>A:p.Ser603Ter	coding	Pathogenic
5	95522303	G	A	G95522303A	TTC37	NM_014639.4(TTC37):c.1762C>T:p.Gln588Ter	coding	Pathogenic
5	95522870	G	A	G95522870A	TTC37	NM_014639.4(TTC37):c.1757+332C>T	noncoding	Benign
5	95523251	G	A	G95523251A	TTC37	NM_014639.4(TTC37):c.1708C>T:p.Arg570Ter	coding	Pathogenic
5	95523344	C	T	C95523344T	SKIC3	NM_014639.4(SKIC3):c.1633-18G>A	noncoding	Benign
5	95524543	G	C	G95524543C	SKIC3	NM_014639.4(SKIC3):c.1374C>G:p.Tyr458Ter	coding	Pathogenic
5	95524564	G	T	G95524564T	SKIC3	NM_014639.4(SKIC3):c.1353C>A:p.Thr451=	coding	Benign
5	95525414	G	C	G95525414C	SKIC3	NM_014639.4(SKIC3):c.1309C>G:p.Leu437Val	coding	Benign
5	95525649	C	A	C95525649A	TTC37	NM_014639.4(TTC37):c.1159G>T:p.Gly387Ter	coding	Pathogenic
5	95528674	G	C	G95528674C	TTC37	NM_014639.4(TTC37):c.994+327C>G	noncoding	Benign
5	95528801	C	T	C95528801T	TTC37	NM_014639.4(TTC37):c.994+200G>A	noncoding	Benign
5	95528861	A	C	A95528861C	TTC37	NM_014639.4(TTC37):c.994+140T>G	noncoding	Benign
5	95528864	T	C	T95528864C	TTC37	NM_014639.4(TTC37):c.994+137A>G	noncoding	Benign
5	95529101	C	A	C95529101A	SKIC3	NM_014639.4(SKIC3):c.894G>T:p.Gly298=	coding	Benign
5	95540789	T	C	T95540789C	SKIC3	NM_014639.4(SKIC3):c.444A>G:p.Glu148=	coding	Benign
5	95541350	G	T	G95541350T	TTC37	NM_014639.4(TTC37):c.357C>A:p.Cys119Ter	coding	Pathogenic
5	95541798	C	G	C95541798G	SKIC3	NM_014639.4(SKIC3):c.326+17G>C	noncoding	Benign
5	95554928	A	G	A95554928G	TTC37	NM_014639.4(TTC37):c.-228+8T>C	noncoding	Benign
5	95566121	C	T	C95566121T	ARSK	NM_198150.3(ARSK):c.250C>T:p.Arg84Cys	coding	Pathogenic
5	95583059	T	A	T95583059A	ARSK	NM_198150.3(ARSK):c.560T>A:p.Leu187Ter	coding	Pathogenic
5	95601001	C	G	C95601001G	ARSK	NM_198150.3(ARSK):c.1251C>G:p.Tyr417Ter	coding	Pathogenic
5	95917404	C	G	C95917404G	ELL2	NM_012081.6(ELL2):c.317+2020G>C	noncoding	Benign
5	95924158	C	T	C95924158T	ELL2	NM_012081.6(ELL2):c.196-4613G>A	noncoding	Benign
5	95929852	G	A	G95929852A	ELL2	NM_012081.6(ELL2):c.196-10307C>T	noncoding	Benign
5	96393702	G	A	G96393702A	PCSK1	NM_000439.5(PCSK1):c.1885-324C>T	noncoding	Benign
5	96394757	C	T	C96394757T	PCSK1	NM_000439.5(PCSK1):c.1884+107G>A	noncoding	Benign
5	96395178	A	G	A96395178G	PCSK1	NM_000439.5(PCSK1):c.1723-153T>C	noncoding	Benign
5	96397064	A	T	A96397064T	PCSK1	NM_000439.5(PCSK1):c.1722+272T>A	noncoding	Benign
5	96397282	T	C	T96397282C	PCSK1	NM_000439.5(PCSK1):c.1722+54A>G	noncoding	Benign
5	96400491	G	A	G96400491A	PCSK1	NM_000439.5(PCSK1):c.1197-305C>T	noncoding	Benign
5	96408004	C	T	C96408004T	PCSK1	NM_000439.5(PCSK1):c.1196+219G>A	noncoding	Benign
5	96410651	T	G	T96410651G	PCSK1	NM_000439.5(PCSK1):c.1095+123A>C	noncoding	Benign
5	96410773	C	A	C96410773A	PCSK1	NM_000439.5(PCSK1):c.1095+1G>T	noncoding	Pathogenic
5	96410773	C	T	C96410773T	PCSK1	NM_000439.5(PCSK1):c.1095+1G>A	noncoding	Pathogenic
5	96410942	G	C	G96410942C	PCSK1	NM_000439.5(PCSK1):c.927C>G:p.Asn309Lys	coding	Pathogenic
5	96415845	A	G	A96415845G	PCSK1	NM_000439.5(PCSK1):c.709+188T>C	noncoding	Benign
5	96421888	G	A	G96421888A	PCSK1	NM_000439.5(PCSK1):c.612C>T:p.Asn204=	coding	Benign/Likely_benign
5	96421905	G	A	G96421905A	PCSK1	NM_000439.5(PCSK1):c.595C>T:p.Arg199Ter	coding	Pathogenic
5	96423719	C	T	C96423719T	PCSK1	NM_000439.5(PCSK1):c.397-260G>A	noncoding	Benign
5	96428986	C	T	C96428986T	PCSK1	NM_000439.5(PCSK1):c.285+227G>A	noncoding	Benign
5	96429259	C	T	C96429259T	PCSK1	NM_000439.5(PCSK1):c.239G>A:p.Arg80Gln	coding	Benign/Likely_benign
5	96429260	G	A	G96429260A	PCSK1	NM_000439.5(PCSK1):c.238C>T:p.Arg80Ter	coding	Pathogenic
5	96429375	T	G	T96429375G	PCSK1	NM_000439.5(PCSK1):c.181-58A>C	noncoding	Benign
5	96429622	A	G	A96429622G	PCSK1	NM_000439.5(PCSK1):c.181-305T>C	noncoding	Benign
5	96429668	C	T	C96429668T	PCSK1	NM_000439.5(PCSK1):c.181-351G>A	noncoding	Benign
5	96431999	C	T	C96431999T	PCSK1	NM_000439.5(PCSK1):c.180+864G>A	noncoding	Benign
5	96432216	T	C	T96432216C	PCSK1	NM_000439.5(PCSK1):c.180+647A>G	noncoding	Benign
5	96662687	C	T	C96662687T	CAST	NM_001750.7(CAST):c.75+190C>T	noncoding	Benign
5	96662768	G	A	G96662768A	CAST	NM_001750.7(CAST):c.75+271G>A	noncoding	Benign
5	96675319	T	C	T96675319C	CAST	NM_001750.7(CAST):c.76-220T>C	noncoding	Benign
5	96695582	A	G	A96695582G	CAST	NM_001750.7(CAST):c.139-254A>G	noncoding	Benign
5	96695865	A	G	A96695865G	CAST	NM_001750.7(CAST):c.168A>G:p.Gln56=	coding	Benign
5	96696123	G	T	G96696123T	CAST	NM_001750.7(CAST):c.210+216G>T	noncoding	Benign
5	96726913	C	T	C96726913T	CAST	NM_001750.7(CAST):c.336+54C>T	noncoding	Benign
5	96727253	T	C	T96727253C	CAST	NM_001750.7(CAST):c.337-236T>C	noncoding	Benign
5	96727798	A	G	A96727798G	CAST	NM_001750.7(CAST):c.378+268A>G	noncoding	Benign
5	96728929	A	C	A96728929C	CAST	NM_001750.7(CAST):c.379-224A>C	noncoding	Benign
5	96729011	A	T	A96729011T	CAST	NM_001750.7(CAST):c.379-142A>T	noncoding	Benign
5	96729932	A	G	A96729932G	CAST	NM_001750.7(CAST):c.549+207A>G	noncoding	Benign
5	96729958	C	T	C96729958T	CAST	NM_001750.7(CAST):c.549+233C>T	noncoding	Benign
5	96730662	C	A	C96730662A	CAST	NM_001750.7(CAST):c.550-118C>A	noncoding	Benign
5	96730788	A	G	A96730788G	CAST	NM_001750.7(CAST):c.558A>G:p.Pro186=	coding	Benign
5	96730872	C	G	C96730872G	CAST	NM_001750.7(CAST):c.630+12C>G	noncoding	Benign
5	96730948	C	T	C96730948T	CAST	NM_001750.7(CAST):c.630+88C>T	noncoding	Benign
5	96736076	A	G	A96736076G	CAST	NM_001750.7(CAST):c.631-96A>G	noncoding	Benign
5	96736137	A	G	A96736137G	CAST	NM_001750.7(CAST):c.631-35A>G	noncoding	Benign
5	96736453	A	T	A96736453T	CAST	NM_001750.7(CAST):c.699+213A>T	noncoding	Benign
5	96737924	A	G	A96737924G	CAST	NM_001750.7(CAST):c.775A>G:p.Thr259Ala	coding	Benign
5	96740783	G	A	G96740783A	CAST	NM_001750.7(CAST):c.918G>A:p.Ser306=	coding	Benign
5	96741272	A	C	A96741272C	CAST	NM_001750.7(CAST):c.925A>C:p.Ile309Leu	coding	Benign
5	96741310	C	T	C96741310T	CAST	NM_001750.7(CAST):c.963C>T:p.Asp321=	coding	Benign
5	96741479	T	C	T96741479C	CAST	NM_001750.7(CAST):c.1012-15T>C	noncoding	Benign
5	96742605	G	A	G96742605A	CAST	NM_001750.7(CAST):c.1099-50G>A	noncoding	Benign
5	96742633	C	G	C96742633G	CAST	NM_001750.7(CAST):c.1099-22C>G	noncoding	Benign
5	96742838	C	T	C96742838T	CAST	NM_001750.7(CAST):c.1200+82C>T	noncoding	Benign
5	96742998	A	G	A96742998G	CAST	NM_001750.7(CAST):c.1200+242A>G	noncoding	Benign
5	96746121	G	T	G96746121T	CAST	NM_001750.7(CAST):c.1201-221G>T	noncoding	Benign
5	96746697	C	T	C96746697T	CAST	NM_001750.7(CAST):c.1284+272C>T	noncoding	Benign
5	96747634	C	T	C96747634T	CAST	NM_001750.7(CAST):c.1332+242C>T	noncoding	Benign
5	96747638	A	T	A96747638T	CAST	NM_001750.7(CAST):c.1332+246A>T	noncoding	Benign
5	96748727	G	A	G96748727A	CAST	NM_001750.7(CAST):c.1428+114G>A	noncoding	Benign
5	96750599	G	A	G96750599A	CAST	NM_001750.7(CAST):c.1441G>A:p.Ala481Thr	coding	Benign
5	96750630	G	C	G96750630C	CAST	NM_001750.7(CAST):c.1472G>C:p.Cys491Ser	coding	Benign
5	96750914	C	G	C96750914G	CAST	NM_001750.7(CAST):c.1524+232C>G	noncoding	Benign
5	96753935	C	G	C96753935G	CAST	NM_001750.7(CAST):c.1525-125C>G	noncoding	Benign
5	96753954	G	A	G96753954A	CAST	NM_001750.7(CAST):c.1525-106G>A	noncoding	Benign
5	96754015	G	A	G96754015A	CAST	NM_001750.7(CAST):c.1525-45G>A	noncoding	Benign
5	96754272	A	G	A96754272G	CAST	NM_001750.7(CAST):c.1626+111A>G	noncoding	Benign
5	96757286	A	G	A96757286G	CAST	NM_001750.7(CAST):c.1711-158A>G	noncoding	Benign
5	96757307	C	T	C96757307T	CAST	NM_001750.7(CAST):c.1711-137C>T	noncoding	Benign
5	96757434	C	T	C96757434T	CAST	NM_001750.7(CAST):c.1711-10C>T	noncoding	Benign
5	96757518	G	A	G96757518A	CAST	NM_001750.7(CAST):c.1761+24G>A	noncoding	Benign
5	96757685	T	C	T96757685C	CAST	NM_001750.7(CAST):c.1833+31T>C	noncoding	Benign
5	96762144	T	C	T96762144C	CAST	NM_001750.7(CAST):c.1834-130T>C	coding	Benign
5	96762191	T	G	T96762191G	CAST	NM_001750.7(CAST):c.1834-83T>G	coding	Benign
5	96762440	G	A	G96762440A	CAST	NM_001750.7(CAST):c.1932+68G>A	coding	Benign
5	96762510	G	A	G96762510A	CAST	NM_001750.7(CAST):c.1932+138G>A	coding	Benign
5	96765060	G	C	G96765060C	CAST	NM_001750.7(CAST):c.1933-161G>C	noncoding	Benign
5	96765340	A	G	A96765340G	CAST	NM_001750.7(CAST):c.2037+15A>G	noncoding	Benign
5	96765516	A	G	A96765516G	CAST	NM_001750.7(CAST):c.2037+191A>G	noncoding	Benign
5	96765522	G	A	G96765522A	CAST	NM_001750.7(CAST):c.2037+197G>A	noncoding	Benign
5	96766240	A	G	A96766240G	CAST	NM_001750.7(CAST):c.2130+95A>G	noncoding	Benign
5	96766255	C	T	C96766255T	CAST	NM_001750.7(CAST):c.2130+110C>T	noncoding	Benign
5	96767406	A	G	A96767406G	CAST	NM_001750.7(CAST):c.2131-32A>G	noncoding	Benign
5	96767648	C	T	C96767648T	CAST	NM_001750.7(CAST):c.2175+166C>T	noncoding	Benign
5	96767885	G	A	G96767885A	CAST	NM_001750.7(CAST):c.2176-22G>A	noncoding	Benign
5	96771318	C	T	C96771318T	CAST	NM_001750.7(CAST):c.2341-326C>T	noncoding	Benign
5	96771498	G	T	G96771498T	CAST	NM_001750.7(CAST):c.2341-146G>T	noncoding	Benign
5	96771625	G	A	G96771625A	CAST	NM_001750.7(CAST):c.2341-19G>A	noncoding	Benign
5	96776075	A	G	A96776075G	ERAP1	NM_001040458.3(ERAP1):c.*321T>C	coding	Benign
5	96793809	A	G	A96793809G	ERAP1	NM_001040458.3(ERAP1):c.1068T>C:p.Ala356=	coding	Benign
5	96793840	C	T	C96793840T	ERAP1	NM_001040458.3(ERAP1):c.1037G>A:p.Gly346Asp	coding	Benign
5	96875556	A	G	A96875556G	ERAP2	Single_allele	noncoding	Benign
5	98881153	T	C	T98881153C	CHD1	NM_001270.4(CHD1):c.2983A>G:p.Ile995Val	coding	Benign
5	98889098	T	A	T98889098A	CHD1	NM_001270.4(CHD1):c.2321A>T:p.Tyr774Phe	coding	Benign
5	98893400	T	C	T98893400C	CHD1	NM_001270.4(CHD1):c.1991+16A>G	noncoding	Benign
5	103097705	G	A	G103097705A	GIN1	NM_017676.2(GIN1):c.716C>T:p.Thr239Met	coding	Benign
5	103129219	G	C	G103129219C	PPIP5K2	NM_001276277.3(PPIP5K2):c.-284-87G>C	noncoding	Benign
5	103136856	A	G	A103136856G	PPIP5K2	NM_001276277.3(PPIP5K2):c.401+34A>G	noncoding	Benign
5	103147827	T	A	T103147827A	PPIP5K2	NM_001276277.3(PPIP5K2):c.643-104T>A	noncoding	Benign
5	103147896	G	A	G103147896A	PPIP5K2	NM_001276277.3(PPIP5K2):c.643-35G>A	noncoding	Benign
5	103151019	G	C	G103151019C	PPIP5K2	NM_001276277.3(PPIP5K2):c.907-234G>C	noncoding	Benign
5	103152479	G	A	G103152479A	PPIP5K2	NM_001276277.3(PPIP5K2):c.1029-169G>A	noncoding	Benign
5	103152485	C	T	C103152485T	PPIP5K2	NM_001276277.3(PPIP5K2):c.1029-163C>T	noncoding	Benign
5	103152867	T	C	T103152867C	PPIP5K2	NM_001276277.3(PPIP5K2):c.1130+118T>C	noncoding	Benign
5	103153807	T	G	T103153807G	PPIP5K2	NM_001276277.3(PPIP5K2):c.1131-41T>G	noncoding	Benign
5	103154817	A	G	A103154817G	PPIP5K2	NM_001276277.3(PPIP5K2):c.1294-17A>G	noncoding	Benign
5	103155798	A	G	A103155798G	PPIP5K2	NM_001276277.3(PPIP5K2):c.1404-111A>G	noncoding	Benign
5	103159047	A	G	A103159047G	PPIP5K2	NM_001276277.3(PPIP5K2):c.1738-99A>G	noncoding	Benign
5	103167130	G	C	G103167130C	PPIP5K2	NM_001276277.3(PPIP5K2):c.1921-49G>C	noncoding	Benign
5	103167360	T	C	T103167360C	PPIP5K2	NM_001276277.3(PPIP5K2):c.2062+40T>C	noncoding	Benign
5	103172945	G	T	G103172945T	PPIP5K2	NM_001276277.3(PPIP5K2):c.2287-210G>T	noncoding	Benign
5	103177807	A	G	A103177807G	PPIP5K2	NM_001276277.3(PPIP5K2):c.2637+33A>G	noncoding	Benign
5	103178082	T	C	T103178082C	PPIP5K2	NM_001276277.3(PPIP5K2):c.2754+102T>C	noncoding	Benign
5	103183094	A	G	A103183094G	PPIP5K2	NM_001276277.3(PPIP5K2):c.2923-140A>G	noncoding	Benign
5	103184699	A	C	A103184699C	PPIP5K2	NM_001276277.3(PPIP5K2):c.3124A>C:p.Arg1042=	coding	Benign
5	103186195	T	C	T103186195C	PPIP5K2	NM_001276277.3(PPIP5K2):c.3170-125T>C	noncoding	Benign
5	103190972	C	T	C103190972T	PPIP5K2	NM_001276277.3(PPIP5K2):c.3483C>T:p.Thr1161=	coding	Benign
5	103201499	T	G	T103201499G	PPIP5K2	NM_001276277.3(PPIP5K2):c.3620-23T>G	noncoding	Benign
5	103201584	A	G	A103201584G	PPIP5K2	NM_001276277.3(PPIP5K2):c.3682A>G:p.Ser1228Gly	coding	Benign
5	103201597	C	T	C103201597T	PPIP5K2	NM_001276277.3(PPIP5K2):c.3695C>T:p.Thr1232Met	coding	Benign
5	103201656	T	C	T103201656C	PPIP5K2	NM_001276277.3(PPIP5K2):c.*22T>C	noncoding	Benign
5	103201678	A	G	A103201678G	PPIP5K2	NM_001276277.3(PPIP5K2):c.*44A>G	noncoding	Benign
5	110738976	T	G	T110738976G	SLC25A46	NM_138773.3(SLC25A46):c.-144T>G	noncoding	Benign
5	110739161	C	G	C110739161G	SLC25A46	NM_138773.4(SLC25A46):c.42C>G:p.Tyr14Ter	coding	Pathogenic
5	110741735	G	A	G110741735A	SLC25A46	NM_138773.4(SLC25A46):c.284-312G>A	noncoding	Benign
5	110746251	G	A	G110746251A	SLC25A46	NM_138773.4(SLC25A46):c.385-18G>A	noncoding	Benign
5	110748282	C	T	C110748282T	SLC25A46	NM_138773.4(SLC25A46):c.563+19C>T	noncoding	Benign
5	110756845	C	T	C110756845T	SLC25A46	NM_138773.4(SLC25A46):c.678+86C>T	noncoding	Benign
5	110761216	C	T	C110761216T	SLC25A46	NM_138773.4(SLC25A46):c.691C>T:p.Arg231Ter	coding	Pathogenic
5	110761854	C	A	C110761854A	SLC25A46	NM_138773.4(SLC25A46):c.*72C>A	noncoding	Benign
5	111092054	A	G	A111092054G	WDR36	Single_allele	noncoding	Benign
5	111092097	C	T	C111092097T	WDR36	Single_allele	noncoding	Benign
5	111092339	G	A	G111092339A	WDR36	NM_139281.2(WDR36):c.51G>A:p.Pro17=	coding	Benign/Likely_benign
5	111092362	T	C	T111092362C	WDR36	NM_139281.3(WDR36):c.-95T>C	coding	Benign
5	111094656	A	G	A111094656G	WDR36	NM_139281.3(WDR36):c.163-264A>G	noncoding	Benign
5	111097122	C	T	C111097122T	WDR36	NM_139281.3(WDR36):c.234C>T:p.Gly78=	coding	Benign
5	111097143	T	C	T111097143C	WDR36	NM_139281.3(WDR36):c.255T>C:p.Tyr85=	coding	Benign
5	111097388	A	G	A111097388G	WDR36	NM_139281.3(WDR36):c.291+209A>G	noncoding	Benign
5	111097400	A	G	A111097400G	WDR36	NM_139281.3(WDR36):c.291+221A>G	noncoding	Benign
5	111098563	T	G	T111098563G	WDR36	NM_139281.3(WDR36):c.292-159T>G	noncoding	Benign
5	111098595	A	C	A111098595C	WDR36	NM_139281.3(WDR36):c.292-127A>C	noncoding	Benign
5	111098609	G	A	G111098609A	WDR36	NM_139281.3(WDR36):c.292-113G>A	noncoding	Benign
5	111098750	C	T	C111098750T	WDR36	NM_139281.3(WDR36):c.320C>T:p.Ala107Val	coding	Benign
5	111100602	G	A	G111100602A	WDR36	NM_139281.3(WDR36):c.423G>A:p.Gln141=	coding	Benign
5	111100751	C	T	C111100751T	WDR36	NM_139281.3(WDR36):c.542+30C>T	noncoding	Benign
5	111102658	A	G	A111102658G	WDR36	NM_139281.3(WDR36):c.597+259A>G	noncoding	Benign
5	111103541	G	A	G111103541A	WDR36	NM_139281.3(WDR36):c.598-245G>A	noncoding	Benign
5	111104619	T	C	T111104619C	WDR36	NM_139281.3(WDR36):c.907-78T>C	noncoding	Benign
5	111104848	T	G	T111104848G	WDR36	NM_139281.3(WDR36):c.1027+31T>G	noncoding	Benign
5	111105587	C	G	C111105587G	WDR36	NM_139281.3(WDR36):c.1093+227C>G	noncoding	Benign
5	111105834	G	A	G111105834A	WDR36	NM_139281.3(WDR36):c.1094-223G>A	noncoding	Benign
5	111105862	T	C	T111105862C	WDR36	NM_139281.3(WDR36):c.1094-195T>C	noncoding	Benign
5	111106140	G	A	G111106140A	WDR36	NM_139281.3(WDR36):c.1177G>A:p.Ala393Thr	coding	Benign/Likely_benign
5	111107582	A	G	A111107582G	WDR36	NM_139281.3(WDR36):c.1326+143A>G	noncoding	Benign
5	111107748	T	G	T111107748G	WDR36	NM_139281.3(WDR36):c.1326+309T>G	noncoding	Benign
5	111108550	G	T	G111108550T	WDR36	NM_139281.3(WDR36):c.1326+1111G>T	noncoding	Benign
5	111110392	G	A	G111110392A	WDR36	NM_139281.3(WDR36):c.1441+89G>A	noncoding	Benign
5	111111042	C	A	C111111042A	WDR36	NM_139281.3(WDR36):c.1607+89C>A	noncoding	Benign
5	111111513	A	G	A111111513G	WDR36	NM_139281.3(WDR36):c.1716+235A>G	noncoding	Benign
5	111113054	T	A	T111113054A	WDR36	NM_139281.3(WDR36):c.1717-20T>A	noncoding	Benign
5	111113056	T	A	T111113056A	WDR36	NM_139281.3(WDR36):c.1717-18T>A	noncoding	Benign
5	111113058	T	A	T111113058A	WDR36	NM_139281.3(WDR36):c.1717-16T>A	noncoding	Benign
5	111113060	T	A	T111113060A	WDR36	NM_139281.3(WDR36):c.1717-14T>A	noncoding	Benign
5	111118692	T	G	T111118692G	WDR36	NM_139281.3(WDR36):c.1797-321T>G	noncoding	Benign
5	111118834	A	G	A111118834G	WDR36	NM_139281.3(WDR36):c.1797-179A>G	noncoding	Benign
5	111118983	A	G	A111118983G	WDR36	NM_139281.3(WDR36):c.1797-30A>G	noncoding	Benign
5	111119029	T	C	T111119029C	WDR36	NM_139281.3(WDR36):c.1813T>C:p.Leu605=	coding	Benign
5	111119258	C	T	C111119258T	WDR36	NM_139281.3(WDR36):c.1904+138C>T	noncoding	Benign
5	111120201	T	C	T111120201C	WDR36	NM_139281.3(WDR36):c.1905-295T>C	noncoding	Benign
5	111120565	C	G	C111120565G	WDR36	NM_139281.3(WDR36):c.1974C>G:p.Val658=	coding	Benign
5	111120810	C	T	C111120810T	WDR36	NM_139281.3(WDR36):c.2003-186C>T	noncoding	Benign
5	111120978	C	A	C111120978A	WDR36	NM_139281.3(WDR36):c.2003-18C>A	noncoding	Benign
5	111121397	C	T	C111121397T	WDR36	NM_139281.3(WDR36):c.2148+256C>T	noncoding	Benign
5	111121460	C	T	C111121460T	WDR36	NM_139281.3(WDR36):c.2148+319C>T	noncoding	Benign
5	111123606	T	C	T111123606C	WDR36	NM_139281.3(WDR36):c.2149-199T>C	noncoding	Benign
5	111124249	G	C	G111124249C	WDR36	NM_139281.3(WDR36):c.2350+60G>C	noncoding	Benign
5	111125362	G	A	G111125362A	WDR36	NM_139281.3(WDR36):c.2351-246G>A	noncoding	Benign
5	111125533	G	A	G111125533A	WDR36	NM_139281.3(WDR36):c.2351-75G>A	noncoding	Benign
5	111125585	A	G	A111125585G	WDR36	NM_139281.3(WDR36):c.2351-23A>G	noncoding	Benign
5	111125600	T	G	T111125600G	WDR36	NM_139281.3(WDR36):c.2351-8T>G	noncoding	Benign
5	111125924	G	A	G111125924A	WDR36	NM_139281.3(WDR36):c.2538+129G>A	noncoding	Benign
5	111125984	T	C	T111125984C	WDR36	NM_139281.3(WDR36):c.2538+189T>C	noncoding	Benign
5	111125994	A	G	A111125994G	WDR36	NM_139281.3(WDR36):c.2538+199A>G	noncoding	Benign
5	111126532	A	G	A111126532G	WDR36	NM_139281.3(WDR36):c.2539-202A>G	noncoding	Benign
5	112696987	C	T	C112696987T	-	Single_allele	noncoding	Benign
5	112707389	A	C	A112707389C	APC	NM_000038.5(APC):c.-30555A>C	noncoding	Benign
5	112707523	A	C	A112707523C	APC	NM_001127511.3(APC):c.-195A>C	noncoding	Pathogenic
5	112707552	C	T	C112707552T	APC	NM_001127511.3(APC):c.-166C>T	noncoding	Benign
5	112707594	C	G	C112707594G	APC	NM_001127511.3(APC):c.-124C>G	noncoding	Benign
5	112707609	C	G	C112707609G	APC	NM_001127511.3(APC):c.-109C>G	noncoding	Benign
5	112737780	T	C	T112737780C	APC	NM_001127511.3(APC):c.166-28546T>C	noncoding	Benign/Likely_benign
5	112738572	A	G	A112738572G	APC	NM_000038.6(APC):c.-19+647A>G	noncoding	Benign
5	112738659	C	T	C112738659T	APC	NM_000038.6(APC):c.-19+734C>T	noncoding	Benign
5	112754952	C	G	C112754952G	APC	NM_000038.6(APC):c.62C>G:p.Ser21Ter	coding	Pathogenic
5	112766096	C	A	C112766096A	APC	NM_000038.6(APC):c.136-230C>A	noncoding	Benign
5	112766273	T	C	T112766273C	APC	NM_000038.6(APC):c.136-53T>C	noncoding	Benign
5	112766338	C	T	C112766338T	APC	NM_000038.6(APC):c.148C>T:p.Gln50Ter	coding	Pathogenic
5	112766396	T	A	T112766396A	APC	NM_000038.6(APC):c.206T>A:p.Leu69Ter	coding	Pathogenic
5	112767188	G	C	G112767188C	APC	NM_000038.6(APC):c.221-1G>C	noncoding	Pathogenic/Likely_pathogenic
5	112767198	T	A	T112767198A	APC	NM_000038.6(APC):c.230T>A:p.Leu77Ter	coding	Pathogenic
5	112767256	T	C	T112767256C	APC	NM_000038.6(APC):c.288T>C:p.Tyr96=	coding	Benign/Likely_benign
5	112767257	G	A	G112767257A	APC	NM_000038.6(APC):c.289G>A:p.Gly97Arg	coding	Pathogenic
5	112767290	G	T	G112767290T	APC	NM_000038.6(APC):c.322G>T:p.Gly108Ter	coding	Pathogenic
5	112767380	G	T	G112767380T	APC	NM_000038.6(APC):c.412G>T:p.Glu138Ter	coding	Pathogenic
5	112767392	T	C	T112767392C	APC	NM_000038.6(APC):c.422+2T>C	noncoding	Pathogenic/Likely_pathogenic
5	112767392	T	G	T112767392G	APC	NM_000038.6(APC):c.422+2T>G	noncoding	Pathogenic/Likely_pathogenic
5	112775373	G	A	G112775373A	APC	NM_000038.6(APC):c.423-256G>A	noncoding	Benign
5	112775612	T	A	T112775612A	APC	NM_000038.6(APC):c.423-17T>A	noncoding	Benign/Likely_benign
5	112775631	C	A	C112775631A	APC	NM_000038.6(APC):c.425C>A:p.Ser142Ter	coding	Pathogenic
5	112775663	A	T	A112775663T	APC	NM_000038.6(APC):c.457A>T:p.Lys153Ter	coding	Pathogenic
5	112775680	T	A	T112775680A	APC	NM_000038.6(APC):c.474T>A:p.Tyr158Ter	coding	Pathogenic
5	112775680	T	G	T112775680G	APC	NM_000038.6(APC):c.474T>G:p.Tyr158Ter	coding	Pathogenic
5	112780855	G	A	G112780855A	APC	NM_000038.6(APC):c.597G>A:p.Ala199=	coding	Benign/Likely_benign
5	112781076	A	G	A112781076G	APC	NM_000038.6(APC):c.645+173A>G	noncoding	Benign
5	112792426	G	A	G112792426A	APC	NM_000038.6(APC):c.646-20G>A	noncoding	Benign/Likely_benign
5	112792444	A	G	A112792444G	APC	NM_000038.6(APC):c.646-2A>G	noncoding	Pathogenic/Likely_pathogenic
5	112792473	G	T	G112792473T	APC	NM_000038.6(APC):c.673G>T:p.Glu225Ter	coding	Pathogenic
5	112792617	T	C	T112792617C	APC	NM_000038.6(APC):c.729+88T>C	noncoding	Benign
5	112801339	C	T	C112801339T	APC	NM_000038.6(APC):c.790C>T:p.Gln264Ter	coding	Pathogenic
5	112801356	C	T	C112801356T	APC	NM_000038.6(APC):c.807C>T:p.Ile269=	coding	Benign/Likely_benign
5	112801383	G	A	G112801383A	APC	NM_000038.6(APC):c.834G>A:p.Gln278=	coding	Pathogenic/Likely_pathogenic
5	112801652	C	A	C112801652A	APC	NM_000038.6(APC):c.834+269C>A	noncoding	Benign
5	112815595	T	C	T112815595C	APC	NM_000038.6(APC):c.933+2T>C	noncoding	Pathogenic/Likely_pathogenic
5	112816422	A	G	A112816422G	APC	NM_000038.6(APC):c.933+829A>G	noncoding	Pathogenic
5	112816509	T	G	T112816509G	APC	NM_000038.6(APC):c.933+916T>G	noncoding	Benign
5	112818834	G	T	G112818834T	APC	NM_000038.6(APC):c.934-132G>T	noncoding	Benign
5	112818874	G	C	G112818874C	APC	NM_000038.6(APC):c.934-92G>C	noncoding	Benign
5	112819033	T	A	T112819033A	APC	NM_000038.6(APC):c.1001T>A:p.Leu334Ter	coding	Pathogenic
5	112819077	C	T	C112819077T	APC	NM_000038.6(APC):c.1045C>T:p.Gln349Ter	coding	Pathogenic
5	112819138	T	A	T112819138A	APC	NM_000038.6(APC):c.1106T>A:p.Leu369Ter	coding	Pathogenic
5	112819280	C	A	C112819280A	APC	NM_000038.6(APC):c.1248C>A:p.Tyr416Ter	coding	Pathogenic
5	112819321	G	C	G112819321C	APC	NM_000038.6(APC):c.1289G>C:p.Gly430Ala	coding	Pathogenic
5	112821895	G	C	G112821895C	APC	NM_000038.6(APC):c.1313-1G>C	noncoding	Pathogenic
5	112821924	T	A	T112821924A	APC	NM_000038.6(APC):c.1341T>A:p.Cys447Ter	coding	Pathogenic/Likely_pathogenic
5	112822734	G	A	G112822734A	APC	NM_000038.6(APC):c.1408+743G>A	noncoding	Benign
5	112823052	A	T	A112823052T	APC	NM_000038.6(APC):c.1408+1061A>T	noncoding	Benign
5	112827191	A	T	A112827191T	APC	NM_000038.6(APC):c.1492A>T:p.Arg498Ter	coding	Pathogenic
5	112827249	T	C	T112827249C	APC	NM_000038.6(APC):c.1548+2T>C	noncoding	Pathogenic/Likely_pathogenic
5	112827913	T	C	T112827913C	APC	NM_000038.6(APC):c.1549-16T>C	noncoding	Benign/Likely_benign
5	112827915	T	C	T112827915C	APC	NM_000038.6(APC):c.1549-14T>C	noncoding	Benign/Likely_benign
5	112827959	A	T	A112827959T	APC	NM_000038.6(APC):c.1579A>T:p.Arg527Ter	coding	Pathogenic
5	112828541	C	T	C112828541T	APC	NM_000038.6(APC):c.1627-315C>T	noncoding	Benign
5	112828853	C	G	C112828853G	APC	NM_000038.6(APC):c.1627-3C>G	noncoding	Pathogenic
5	112828854	A	T	A112828854T	APC	NM_000038.6(APC):c.1627-2A>T	noncoding	Pathogenic
5	112828881	T	A	T112828881A	APC	NM_000038.6(APC):c.1652T>A:p.Leu551Ter	coding	Pathogenic
5	112828967	A	T	A112828967T	APC	NM_000038.6(APC):c.1738A>T:p.Lys580Ter	coding	Pathogenic
5	112828973	G	A	G112828973A	APC	NM_000038.6(APC):c.1743+1G>A	coding	Pathogenic/Likely_pathogenic
5	112828973	G	C	G112828973C	APC	NM_000038.6(APC):c.1743+1G>C	coding	Pathogenic
5	112834661	G	A	G112834661A	APC	NM_000038.6(APC):c.1744-290G>A	noncoding	Benign
5	112834793	A	G	A112834793G	APC	NM_000038.6(APC):c.1744-158A>G	noncoding	Benign
5	112834929	C	G	C112834929G	APC	NM_000038.6(APC):c.1744-22C>G	noncoding	Pathogenic
5	112834948	T	G	T112834948G	APC	NM_000038.6(APC):c.1744-3T>G	noncoding	Pathogenic
5	112834949	A	G	A112834949G	APC	NM_000038.6(APC):c.1744-2A>G	noncoding	Pathogenic
5	112834949	A	T	A112834949T	APC	NM_000038.6(APC):c.1744-2A>T	noncoding	Pathogenic/Likely_pathogenic
5	112834951	G	T	G112834951T	APC	NM_000038.6(APC):c.1744G>T:p.Glu582Ter	coding	Pathogenic
5	112834953	A	G	A112834953G	APC	NM_000038.6(APC):c.1746A>G:p.Glu582=	coding	Benign/Likely_benign
5	112834982	T	G	T112834982G	APC	NM_000038.6(APC):c.1775T>G:p.Leu592Ter	coding	Pathogenic
5	112835008	G	T	G112835008T	APC	NM_000038.6(APC):c.1801G>T:p.Glu601Ter	coding	Pathogenic
5	112835104	G	T	G112835104T	APC	NM_000038.6(APC):c.1897G>T:p.Glu633Ter	coding	Pathogenic
5	112835167	T	A	T112835167A	APC	NM_000038.6(APC):c.1958+2T>A	noncoding	Pathogenic
5	112835167	T	G	T112835167G	APC	NM_000038.6(APC):c.1958+2T>G	noncoding	Pathogenic/Likely_pathogenic
5	112835219	A	C	A112835219C	APC	NM_000038.6(APC):c.1958+54A>C	noncoding	Benign
5	112835400	A	G	A112835400G	APC	NM_000038.6(APC):c.1958+235A>G	noncoding	Benign
5	112837552	G	A	G112837552A	APC	NM_000038.6(APC):c.1959-1G>A	noncoding	Pathogenic/Likely_pathogenic
5	112837591	T	G	T112837591G	APC	NM_000038.6(APC):c.1997T>G:p.Leu666Ter	coding	Pathogenic
5	112837600	T	G	T112837600G	APC	NM_000038.6(APC):c.2006T>G:p.Leu669Ter	coding	Pathogenic
5	112837677	C	T	C112837677T	APC	NM_000038.6(APC):c.2083C>T:p.Gln695Ter	coding	Pathogenic
5	112837755	G	T	G112837755T	APC	NM_000038.6(APC):c.2161G>T:p.Gly721Ter	coding	Pathogenic
5	112837771	T	G	T112837771G	APC	NM_000038.6(APC):c.2177T>G:p.Leu726Ter	coding	Pathogenic
5	112837806	A	T	A112837806T	APC	NM_000038.6(APC):c.2212A>T:p.Lys738Ter	coding	Pathogenic
5	112837905	G	T	G112837905T	APC	NM_000038.6(APC):c.2311G>T:p.Glu771Ter	coding	Pathogenic
5	112837971	C	T	C112837971T	APC	NM_000038.6(APC):c.2377C>T:p.Gln793Ter	coding	Pathogenic
5	112838062	C	G	C112838062G	APC	NM_000038.6(APC):c.2468C>G:p.Ser823Ter	coding	Pathogenic
5	112838070	T	G	T112838070G	APC	NM_000038.6(APC):c.2476T>G:p.Leu826Val	coding	Benign/Likely_benign
5	112838101	C	A	C112838101A	APC	NM_000038.6(APC):c.2507C>A:p.Ser836Ter	coding	Pathogenic
5	112838104	C	G	C112838104G	APC	NM_000038.6(APC):c.2510C>G:p.Ser837Ter	coding	Pathogenic
5	112838149	T	A	T112838149A	APC	NM_000038.6(APC):c.2555T>A:p.Leu852Ter	coding	Pathogenic
5	112838151	G	T	G112838151T	APC	NM_000038.6(APC):c.2557G>T:p.Glu853Ter	coding	Pathogenic
5	112838234	C	T	C112838234T	APC	NM_000038.6(APC):c.2640C>T:p.Ile880=	coding	Benign/Likely_benign
5	112838405	C	T	C112838405T	APC	NM_000038.6(APC):c.2811C>T:p.Phe937=	coding	Benign/Likely_benign
5	112838414	G	A	G112838414A	APC	NM_000038.6(APC):c.2820G>A:p.Ser940=	coding	Benign/Likely_benign
5	112838447	T	G	T112838447G	APC	NM_000038.6(APC):c.2853T>G:p.Tyr951Ter	coding	Pathogenic
5	112838455	T	G	T112838455G	APC	NM_000038.6(APC):c.2861T>G:p.Leu954Ter	coding	Pathogenic
5	112838462	C	G	C112838462G	APC	NM_000038.6(APC):c.2868C>G:p.Tyr956Ter	coding	Pathogenic
5	112838473	C	A	C112838473A	APC	NM_000038.6(APC):c.2879C>A:p.Ser960Ter	coding	Pathogenic
5	112838526	C	T	C112838526T	APC	NM_000038.6(APC):c.2932C>T:p.Gln978Ter	coding	Pathogenic
5	112838552	T	G	T112838552G	APC	NM_000038.6(APC):c.2958T>G:p.Tyr986Ter	coding	Pathogenic
5	112838613	A	T	A112838613T	APC	NM_000038.6(APC):c.3019A>T:p.Lys1007Ter	coding	Pathogenic
5	112838671	A	G	A112838671G	APC	NM_000038.6(APC):c.3077A>G:p.Asn1026Ser	coding	Pathogenic
5	112838697	C	T	C112838697T	APC	NM_000038.6(APC):c.3103C>T:p.Gln1035Ter	coding	Pathogenic
5	112838877	C	T	C112838877T	APC	NM_000038.6(APC):c.3283C>T:p.Gln1095Ter	coding	Pathogenic/Likely_pathogenic
5	112838952	G	T	G112838952T	APC	NM_000038.6(APC):c.3358G>T:p.Gly1120Ter	coding	Pathogenic
5	112839035	C	A	C112839035A	APC	NM_000038.6(APC):c.3441C>A:p.Tyr1147Ter	coding	Pathogenic
5	112839035	C	G	C112839035G	APC	NM_000038.6(APC):c.3441C>G:p.Tyr1147Ter	coding	Pathogenic
5	112839039	G	T	G112839039T	APC	NM_000038.6(APC):c.3445G>T:p.Glu1149Ter	coding	Pathogenic
5	112839054	G	T	G112839054T	APC	NM_000038.6(APC):c.3460G>T:p.Glu1154Ter	coding	Pathogenic
5	112839087	A	T	A112839087T	APC	NM_000038.6(APC):c.3493A>T:p.Lys1165Ter	coding	Pathogenic
5	112839160	C	A	C112839160A	APC	NM_000038.6(APC):c.3566C>A:p.Ser1189Ter	coding	Pathogenic
5	112839163	C	A	C112839163A	APC	NM_000038.6(APC):c.3569C>A:p.Ser1190Ter	coding	Pathogenic/Likely_pathogenic
5	112839175	C	A	C112839175A	APC	NM_000038.6(APC):c.3581C>A:p.Ser1194Ter	coding	Pathogenic
5	112839201	G	T	G112839201T	APC	NM_000038.6(APC):c.3607G>T:p.Gly1203Ter	coding	Pathogenic/Likely_pathogenic
5	112839219	G	T	G112839219T	APC	NM_000038.6(APC):c.3625G>T:p.Glu1209Ter	coding	Pathogenic
5	112839303	C	T	C112839303T	APC	NM_000038.6(APC):c.3709C>T:p.Gln1237Ter	coding	Pathogenic
5	112839305	G	A	G112839305A	APC	NM_000038.6(APC):c.3711G>A:p.Gln1237=	coding	Benign/Likely_benign
5	112839318	C	T	C112839318T	APC	NM_000038.6(APC):c.3724C>T:p.Gln1242Ter	coding	Pathogenic
5	112839411	A	T	A112839411T	APC	NM_000038.6(APC):c.3817A>T:p.Arg1273Ter	coding	Pathogenic
5	112839416	T	A	T112839416A	APC	NM_000038.6(APC):c.3822T>A:p.Cys1274Ter	coding	Pathogenic
5	112839450	G	T	G112839450T	APC	NM_000038.6(APC):c.3856G>T:p.Glu1286Ter	coding	Pathogenic
5	112839501	C	T	C112839501T	APC	NM_000038.6(APC):c.3907C>T:p.Gln1303Ter	coding	Pathogenic
5	112839522	A	T	A112839522T	APC	NM_000038.6(APC):c.3928A>T:p.Lys1310Ter	coding	Pathogenic
5	112839631	C	A	C112839631A	APC	NM_000038.6(APC):c.4037C>A:p.Ser1346Ter	coding	Pathogenic
5	112839693	C	T	C112839693T	APC	NM_000038.6(APC):c.4099C>T:p.Gln1367Ter	coding	Pathogenic
5	112839722	T	A	T112839722A	APC	NM_000038.6(APC):c.4128T>A:p.Tyr1376Ter	coding	Pathogenic
5	112839729	G	T	G112839729T	APC	NM_000038.6(APC):c.4135G>T:p.Glu1379Ter	coding	Pathogenic/Likely_pathogenic
5	112839827	T	C	T112839827C	APC	NM_000038.6(APC):c.4233T>C:p.Ser1411=	coding	Benign/Likely_benign
5	112839933	C	T	C112839933T	APC	NM_000038.6(APC):c.4339C>T:p.Gln1447Ter	coding	Pathogenic
5	112840010	A	T	A112840010T	APC	NM_000038.6(APC):c.4416A>T:p.Val1472=	coding	Benign/Likely_benign
5	112840032	C	T	C112840032T	APC	NM_000038.6(APC):c.4438C>T:p.Gln1480Ter	coding	Pathogenic
5	112840057	T	G	T112840057G	APC	NM_000038.6(APC):c.4463T>G:p.Leu1488Ter	coding	Pathogenic
5	112840089	G	T	G112840089T	APC	NM_000038.6(APC):c.4495G>T:p.Gly1499Ter	coding	Pathogenic
5	112840131	G	T	G112840131T	APC	NM_000038.6(APC):c.4537G>T:p.Glu1513Ter	coding	Pathogenic
5	112840272	G	T	G112840272T	APC	NM_000038.6(APC):c.4678G>T:p.Glu1560Ter	coding	Pathogenic
5	112840285	T	G	T112840285G	APC	NM_000038.6(APC):c.4691T>G:p.Leu1564Ter	coding	Pathogenic
5	112840427	G	A	G112840427A	APC	NM_000038.6(APC):c.4833G>A:p.Gln1611=	coding	Benign/Likely_benign
5	112840455	C	T	C112840455T	APC	NM_000038.6(APC):c.4861C>T:p.Gln1621Ter	coding	Pathogenic
5	112840556	T	C	T112840556C	APC	NM_000038.6(APC):c.4962T>C:p.Ala1654=	coding	Benign/Likely_benign
5	112840621	G	C	G112840621C	APC	NM_000038.6(APC):c.5027G>C:p.Arg1676Thr	coding	Benign/Likely_benign
5	112840623	G	T	G112840623T	APC	NM_000038.6(APC):c.5029G>T:p.Gly1677Ter	coding	Pathogenic
5	112840838	C	T	C112840838T	APC	NM_000038.6(APC):c.5244C>T:p.Asp1748=	coding	Benign/Likely_benign
5	112841119	C	A	C112841119A	APC	NM_000038.6(APC):c.5525C>A:p.Ser1842Ter	coding	Pathogenic
5	112841119	C	G	C112841119G	APC	NM_000038.6(APC):c.5525C>G:p.Ser1842Ter	coding	Pathogenic
5	112841156	C	G	C112841156G	APC	NM_000038.6(APC):c.5562C>G:p.Tyr1854Ter	coding	Pathogenic
5	112841238	A	T	A112841238T	APC	NM_000038.6(APC):c.5644A>T:p.Arg1882Ter	coding	Pathogenic
5	112841311	C	G	C112841311G	APC	NM_000038.6(APC):c.5717C>G:p.Ser1906Ter	coding	Pathogenic
5	112841339	G	C	G112841339C	APC	NM_000038.6(APC):c.5745G>C:p.Lys1915Asn	coding	Benign
5	112841397	C	T	C112841397T	APC	NM_000038.6(APC):c.5803C>T:p.Gln1935Ter	coding	Pathogenic
5	112842108	G	T	G112842108T	APC	NM_000038.6(APC):c.6514G>T:p.Glu2172Ter	coding	Pathogenic
5	112842354	A	T	A112842354T	APC	NM_000038.6(APC):c.6760A>T:p.Lys2254Ter	coding	Pathogenic/Likely_pathogenic
5	112842429	A	T	A112842429T	APC	NM_000038.6(APC):c.6835A>T:p.Lys2279Ter	coding	Pathogenic
5	112842501	G	T	G112842501T	APC	NM_000038.6(APC):c.6907G>T:p.Gly2303Ter	coding	Pathogenic
5	112842514	C	A	C112842514A	APC	NM_000038.6(APC):c.6920C>A:p.Ser2307Ter	coding	Pathogenic
5	112842701	A	G	A112842701G	APC	NM_000038.6(APC):c.7107A>G:p.Pro2369=	coding	Benign/Likely_benign
5	112842719	A	G	A112842719G	APC	NM_000038.6(APC):c.7125A>G:p.Gln2375=	coding	Benign/Likely_benign
5	112842745	T	G	T112842745G	APC	NM_000038.6(APC):c.7151T>G:p.Leu2384Ter	coding	Pathogenic
5	112842860	T	A	T112842860A	APC	NM_000038.6(APC):c.7266T>A:p.Thr2422=	coding	Benign/Likely_benign
5	112842902	A	G	A112842902G	APC	NM_000038.6(APC):c.7308A>G:p.Val2436=	coding	Benign/Likely_benign
5	112842940	G	T	G112842940T	APC	NM_000038.6(APC):c.7346G>T:p.Ser2449Ile	coding	Pathogenic
5	112843456	C	G	C112843456G	APC	NM_000038.6(APC):c.7862C>G:p.Ser2621Cys	coding	Benign/Likely_benign
5	112843580	G	A	G112843580A	APC	NM_000038.6(APC):c.7986G>A:p.Glu2662=	coding	Benign/Likely_benign
5	112843749	G	T	G112843749T	APC	NM_000038.6(APC):c.8155G>T:p.Glu2719Ter	coding	Pathogenic
5	114463159	G	A	G114463159A	KCNN2	NM_021614.4(KCNN2):c.1748G>A:p.Gly583Glu	coding	Pathogenic
5	115126658	C	T	C115126658T	TRIM36	NM_001300759.2(TRIM36):c.1996G>A:p.Asp666Asn	coding	Benign
5	115126892	A	C	A115126892C	TRIM36	NM_001300759.2(TRIM36):c.1797-35T>G	noncoding	Benign
5	115616314	T	A	T115616314A	TMED7	NM_181836.6(TMED7):c.570A>T:p.Ser190=	coding	Benign
5	115625699	C	A	C115625699A	TMED7	NM_181836.6(TMED7):c.94G>T:p.Gly32Cys	coding	Benign
5	115625751	C	T	C115625751T	TMED7	NM_181836.6(TMED7):c.42G>A:p.Ala14=	coding	Benign
5	119149109	G	A	G119149109A	DMXL1	NM_001290321.3(DMXL1):c.3282G>A:p.Glu1094=	coding	Benign
5	119170990	G	A	G119170990A	DMXL1	NM_001290321.3(DMXL1):c.6199G>A:p.Val2067Met	coding	Benign
5	119171110	A	T	A119171110T	DMXL1	NM_001290321.3(DMXL1):c.6319A>T:p.Thr2107Ser	coding	Benign
5	119452911	C	G	C119452911G	HSD17B4	NM_000414.4(HSD17B4):c.58+278C>G	noncoding	Benign
5	119456137	G	A	G119456137A	HSD17B4	NM_000414.4(HSD17B4):c.59-178G>A	noncoding	Benign
5	119456323	C	T	C119456323T	HSD17B4	NM_000414.4(HSD17B4):c.67C>T:p.Arg23Ter	coding	Pathogenic/Likely_pathogenic
5	119471441	A	G	A119471441G	HSD17B4	NM_000414.4(HSD17B4):c.113-2467A>G	noncoding	Benign
5	119473703	T	C	T119473703C	HSD17B4	NM_000414.4(HSD17B4):c.113-205T>C	noncoding	Benign
5	119474696	C	T	C119474696T	HSD17B4	NM_000414.4(HSD17B4):c.280+236C>T	noncoding	Benign
5	119474721	A	T	A119474721T	HSD17B4	NM_000414.4(HSD17B4):c.280+261A>T	noncoding	Benign
5	119475618	C	T	C119475618T	HSD17B4	NM_000414.4(HSD17B4):c.281-88C>T	noncoding	Benign
5	119475619	G	A	G119475619A	HSD17B4	NM_000414.4(HSD17B4):c.281-87G>A	noncoding	Benign
5	119475718	A	G	A119475718G	HSD17B4	NM_000414.4(HSD17B4):c.293A>G:p.Asn98Ser	coding	Pathogenic
5	119477134	G	A	G119477134A	HSD17B4	NM_000414.4(HSD17B4):c.350-283G>A	noncoding	Benign
5	119477488	C	T	C119477488T	HSD17B4	NM_000414.4(HSD17B4):c.421C>T:p.Gln141Ter	coding	Pathogenic
5	119477545	T	C	T119477545C	HSD17B4	NM_000414.4(HSD17B4):c.434+44T>C	noncoding	Benign
5	119477621	A	G	A119477621G	HSD17B4	NM_000414.4(HSD17B4):c.434+120A>G	noncoding	Benign
5	119478931	C	T	C119478931T	HSD17B4	NM_000414.4(HSD17B4):c.532C>T:p.Leu178Phe	coding	Pathogenic
5	119479282	A	G	A119479282G	HSD17B4	NM_000414.4(HSD17B4):c.622+261A>G	noncoding	Benign
5	119489251	G	T	G119489251T	HSD17B4	NM_000414.4(HSD17B4):c.682G>T:p.Glu228Ter	coding	Pathogenic
5	119489356	G	C	G119489356C	HSD17B4	NM_000414.4(HSD17B4):c.714+73G>C	noncoding	Benign
5	119491906	C	T	C119491906T	HSD17B4	NM_000414.4(HSD17B4):c.715-194C>T	noncoding	Benign
5	119491942	T	A	T119491942A	HSD17B4	NM_000414.4(HSD17B4):c.715-158T>A	noncoding	Benign
5	119492113	G	A	G119492113A	HSD17B4	NM_000414.4(HSD17B4):c.728G>A:p.Trp243Ter	coding	Pathogenic
5	119493527	T	A	T119493527A	HSD17B4	NM_000414.4(HSD17B4):c.740-291T>A	noncoding	Benign
5	119493802	T	G	T119493802G	HSD17B4	NM_000414.4(HSD17B4):c.740-16T>G	noncoding	Benign/Likely_benign
5	119493818	T	G	T119493818G	HSD17B4	NM_000414.4(HSD17B4):c.740T>G:p.Leu247Ter	coding	Pathogenic
5	119493829	C	T	C119493829T	HSD17B4	NM_000414.4(HSD17B4):c.751C>T:p.Arg251Trp	coding	Pathogenic
5	119494095	A	G	A119494095G	HSD17B4	NM_000414.4(HSD17B4):c.868+149A>G	noncoding	Benign
5	119496231	A	C	A119496231C	HSD17B4	NM_000414.4(HSD17B4):c.869-312A>C	noncoding	Benign
5	119496585	C	G	C119496585G	HSD17B4	NM_000414.4(HSD17B4):c.911C>G:p.Ser304Ter	coding	Pathogenic
5	119501963	T	C	T119501963C	HSD17B4	NM_000414.4(HSD17B4):c.1210-78T>C	noncoding	Benign
5	119502040	G	A	G119502040A	HSD17B4	NM_000414.4(HSD17B4):c.1210-1G>A	noncoding	Pathogenic/Likely_pathogenic
5	119502061	C	G	C119502061G	HSD17B4	NM_000414.4(HSD17B4):c.1230C>G:p.Tyr410Ter	coding	Pathogenic
5	119502138	C	T	C119502138T	HSD17B4	NM_000414.4(HSD17B4):c.1261+46C>T	noncoding	Benign
5	119502139	A	G	A119502139G	HSD17B4	NM_000414.4(HSD17B4):c.1261+47A>G	noncoding	Benign
5	119502373	G	A	G119502373A	HSD17B4	NM_000414.4(HSD17B4):c.1261+281G>A	noncoding	Benign
5	119507028	A	T	A119507028T	HSD17B4	NM_000414.4(HSD17B4):c.1333+139A>T	noncoding	Benign
5	119508791	C	T	C119508791T	HSD17B4	NM_000414.4(HSD17B4):c.1334-350C>T	noncoding	Benign
5	119508912	A	T	A119508912T	HSD17B4	NM_000414.4(HSD17B4):c.1334-229A>T	noncoding	Benign
5	119508936	T	C	T119508936C	HSD17B4	NM_000414.4(HSD17B4):c.1334-205T>C	noncoding	Benign
5	119515058	T	G	T119515058G	HSD17B4	NM_000414.4(HSD17B4):c.1503+12T>G	noncoding	Benign/Likely_benign
5	119515300	A	G	A119515300G	HSD17B4	NM_000414.4(HSD17B4):c.1503+254A>G	noncoding	Benign
5	119525532	G	A	G119525532A	HSD17B4	NM_000414.4(HSD17B4):c.1573+247G>A	noncoding	Benign
5	119525732	T	G	T119525732G	HSD17B4	NM_000414.4(HSD17B4):c.1574-185T>G	noncoding	Benign
5	119526209	C	T	C119526209T	HSD17B4	NM_000414.4(HSD17B4):c.1680+186C>T	noncoding	Benign
5	119527040	T	C	T119527040C	HSD17B4	NM_000414.4(HSD17B4):c.1681-93T>C	noncoding	Benign
5	119527160	G	T	G119527160T	HSD17B4	NM_000414.4(HSD17B4):c.1708G>T:p.Gly570Ter	coding	Pathogenic
5	119527276	C	T	C119527276T	HSD17B4	NM_000414.4(HSD17B4):c.1767+57C>T	noncoding	Benign
5	119529630	C	T	C119529630T	HSD17B4	NM_000414.4(HSD17B4):c.1768-264C>T	noncoding	Benign
5	119531184	T	A	T119531184A	HSD17B4	NM_000414.4(HSD17B4):c.1855-82T>A	noncoding	Benign
5	119531332	G	T	G119531332T	HSD17B4	NM_000414.4(HSD17B4):c.1921G>T:p.Glu641Ter	coding	Pathogenic
5	119531362	G	T	G119531362T	HSD17B4	NM_000414.4(HSD17B4):c.1951G>T:p.Glu651Ter	coding	Pathogenic
5	119531478	G	C	G119531478C	HSD17B4	NM_000414.4(HSD17B4):c.1993+74G>C	noncoding	Benign
5	119531568	G	T	G119531568T	HSD17B4	NM_000414.4(HSD17B4):c.1993+164G>T	noncoding	Benign
5	119536816	T	A	T119536816A	HSD17B4	NM_000414.4(HSD17B4):c.2121+266T>A	noncoding	Benign
5	119541853	T	G	T119541853G	HSD17B4	NM_000414.4(HSD17B4):c.2122-52T>G	noncoding	Benign
5	119541871	C	T	C119541871T	HSD17B4	NM_000414.4(HSD17B4):c.2122-34C>T	noncoding	Benign
5	122066589	T	C	T122066589C	LOX	NM_002317.7(LOX):c.*154A>G	noncoding	Benign
5	122066902	C	T	C122066902T	LOX	NM_002317.7(LOX):c.1248-153G>A	noncoding	Benign
5	122070569	A	C	A122070569C	LOX	NM_002317.7(LOX):c.1056T>G:p.Tyr352Ter	coding	Pathogenic
5	122073788	A	G	A122073788G	LOX	NM_002317.7(LOX):c.1035+225T>C	noncoding	Benign
5	122075441	G	A	G122075441A	LOX	NM_002317.7(LOX):c.841C>T:p.Arg281Ter	coding	Pathogenic
5	122077195	C	G	C122077195G	LOX	NM_002317.7(LOX):c.631+160G>C	coding	Benign
5	122077541	C	A	C122077541A	LOX	NM_002317.7(LOX):c.445G>T:p.Gly149Ter	coding	Pathogenic
5	122077770	C	T	C122077770T	LOX	NM_002317.7(LOX):c.216G>A:p.Pro72=	coding	Benign/Likely_benign
5	123346460	T	G	T123346460G	CEP120	NM_001375405.1(CEP120):c.*59A>C	noncoding	Benign
5	123346640	C	T	C123346640T	CEP120	NM_001375405.1(CEP120):c.2840G>A:p.Arg947His	coding	Benign
5	123346654	A	G	A123346654G	CEP120	NM_001375405.1(CEP120):c.2826T>C:p.Asp942=	coding	Benign
5	123349930	T	A	T123349930A	CEP120	NM_001375405.1(CEP120):c.2726+14A>T	noncoding	Benign/Likely_benign
5	123350033	C	G	C123350033G	CEP120	NM_001375405.1(CEP120):c.2637G>C:p.Gln879His	coding	Benign
5	123350405	T	C	T123350405C	CEP120	NM_001375405.1(CEP120):c.2581-316A>G	noncoding	Benign
5	123369550	C	T	C123369550T	CEP120	NM_001375405.1(CEP120):c.2481+3100G>A	noncoding	Benign
5	123377354	T	C	T123377354C	CEP120	NM_001375405.1(CEP120):c.2358+20A>G	noncoding	Benign/Likely_benign
5	123377360	G	A	G123377360A	CEP120	NM_001375405.1(CEP120):c.2358+14C>T	noncoding	Benign
5	123378295	C	T	C123378295T	CEP120	NM_001375405.1(CEP120):c.2196+41G>A	noncoding	Benign
5	123382324	C	A	C123382324A	CEP120	NM_001375405.1(CEP120):c.2014-124G>T	noncoding	Benign
5	123382350	G	T	G123382350T	CEP120	NM_001375405.1(CEP120):c.2014-150C>A	noncoding	Benign
5	123382442	A	G	A123382442G	CEP120	NM_001375405.1(CEP120):c.2014-242T>C	noncoding	Benign
5	123382647	C	T	C123382647T	CEP120	NM_001375405.1(CEP120):c.2013+90G>A	noncoding	Benign
5	123382992	T	G	T123382992G	CEP120	NM_001375405.1(CEP120):c.1854A>C:p.Ser618=	coding	Benign/Likely_benign
5	123383042	G	C	G123383042C	CEP120	NM_001375405.1(CEP120):c.1804C>G:p.Leu602Val	coding	Benign
5	123383088	A	G	A123383088G	CEP120	NM_001375405.1(CEP120):c.1764-6T>C	noncoding	Benign/Likely_benign
5	123385229	T	A	T123385229A	CEP120	NM_001375405.1(CEP120):c.1581-96A>T	noncoding	Benign
5	123385394	C	T	C123385394T	CEP120	NM_001375405.1(CEP120):c.1581-261G>A	noncoding	Benign
5	123386540	G	A	G123386540A	CEP120	NM_001375405.1(CEP120):c.1558C>T:p.Gln520Ter	coding	Pathogenic
5	123386674	T	A	T123386674A	CEP120	NM_001375405.1(CEP120):c.1431-7A>T	noncoding	Benign/Likely_benign
5	123386676	T	A	T123386676A	CEP120	NM_001375405.1(CEP120):c.1431-9A>T	noncoding	Benign
5	123386874	C	T	C123386874T	CEP120	NM_001375405.1(CEP120):c.1431-207G>A	noncoding	Benign
5	123388624	T	C	T123388624C	CEP120	NM_001375405.1(CEP120):c.1256-18A>G	noncoding	Benign/Likely_benign
5	123388752	A	G	A123388752G	CEP120	NM_001375405.1(CEP120):c.1256-146T>C	noncoding	Benign
5	123389741	C	G	C123389741G	CEP120	NM_001375405.1(CEP120):c.1255+183G>C	noncoding	Benign
5	123389803	T	C	T123389803C	CEP120	NM_001375405.1(CEP120):c.1255+121A>G	noncoding	Benign
5	123390159	T	C	T123390159C	CEP120	NM_001375405.1(CEP120):c.1039-19A>G	noncoding	Benign
5	123391089	T	C	T123391089C	CEP120	NM_001375405.1(CEP120):c.1038+21A>G	noncoding	Benign
5	123391332	G	A	G123391332A	CEP120	NM_001375405.1(CEP120):c.816C>T:p.His272=	coding	Benign
5	123391444	T	A	T123391444A	CEP120	NM_001375405.1(CEP120):c.811-107A>T	noncoding	Benign
5	123391477	G	T	G123391477T	CEP120	NM_001375405.1(CEP120):c.811-140C>A	noncoding	Benign
5	123393219	C	T	C123393219T	CEP120	NM_001375405.1(CEP120):c.810+81G>A	noncoding	Benign
5	123393293	T	C	T123393293C	CEP120	NM_001375405.1(CEP120):c.810+7A>G	noncoding	Benign
5	123393536	T	A	T123393536A	CEP120	NM_001375405.1(CEP120):c.613-39A>T	noncoding	Benign
5	123393682	G	A	G123393682A	CEP120	NM_001375405.1(CEP120):c.613-185C>T	noncoding	Benign
5	123399138	G	T	G123399138T	CEP120	NM_001375405.1(CEP120):c.610C>A:p.Gln204Lys	coding	Benign
5	123412151	A	G	A123412151G	CEP120	NM_001375405.1(CEP120):c.463+248T>C	noncoding	Benign
5	123412361	A	T	A123412361T	CEP120	NM_001375405.1(CEP120):c.463+38T>A	noncoding	Benign
5	123412548	A	G	A123412548G	CEP120	NM_001375405.1(CEP120):c.322-8T>C	noncoding	Benign
5	123418732	G	T	G123418732T	CEP120	NM_001375405.1(CEP120):c.50-217C>A	noncoding	Benign
5	126546342	T	C	T126546342C	ALDH7A1	NM_001182.5(ALDH7A1):c.1547A>G:p.Tyr516Cys	coding	Pathogenic
5	126549941	C	A	C126549941A	ALDH7A1	NM_001182.5(ALDH7A1):c.1477G>T:p.Gly493Ter	coding	Pathogenic
5	126550284	C	A	C126550284A	ALDH7A1	NM_001182.5(ALDH7A1):c.1327G>T:p.Glu443Ter	coding	Pathogenic
5	126551804	G	A	G126551804A	ALDH7A1	NM_001182.5(ALDH7A1):c.1317+217C>T	noncoding	Benign
5	126551993	C	T	C126551993T	ALDH7A1	NM_001182.5(ALDH7A1):c.1317+28G>A	noncoding	Benign
5	126554281	C	T	C126554281T	ALDH7A1	NM_001182.5(ALDH7A1):c.1200+6G>A	noncoding	Benign
5	126554291	C	A	C126554291A	ALDH7A1	NM_001182.5(ALDH7A1):c.1196G>T:p.Gly399Val	coding	Pathogenic
5	126555936	C	T	C126555936T	ALDH7A1	NM_001182.5(ALDH7A1):c.1088G>A:p.Trp363Ter	coding	Pathogenic
5	126555952	G	A	G126555952A	ALDH7A1	NM_001182.5(ALDH7A1):c.1072C>T:p.Arg358Ter	coding	Pathogenic
5	126555963	T	C	T126555963C	ALDH7A1	NM_001182.5(ALDH7A1):c.1061A>G:p.Tyr354Cys	coding	Pathogenic
5	126568092	T	G	T126568092G	ALDH7A1	NM_001182.5(ALDH7A1):c.871+167A>C	noncoding	Benign
5	126568271	G	A	G126568271A	ALDH7A1	NM_001182.5(ALDH7A1):c.859C>T:p.Gln287Ter	coding	Pathogenic
5	126568289	G	A	G126568289A	ALDH7A1	NM_001182.5(ALDH7A1):c.841C>T:p.Gln281Ter	coding	Pathogenic
5	126568516	A	T	A126568516T	ALDH7A1	NM_001182.5(ALDH7A1):c.774-160T>A	noncoding	Benign
5	126571076	T	C	T126571076C	ALDH7A1	NM_001182.5(ALDH7A1):c.696-217A>G	noncoding	Benign
5	126577084	G	T	G126577084T	ALDH7A1	NM_001182.5(ALDH7A1):c.645C>A:p.Cys215Ter	coding	Pathogenic
5	126577534	G	A	G126577534A	ALDH7A1	NM_001182.5(ALDH7A1):c.518-323C>T	noncoding	Benign
5	126582627	C	T	C126582627T	ALDH7A1	NM_001182.5(ALDH7A1):c.517+224G>A	noncoding	Benign
5	126582859	G	A	G126582859A	ALDH7A1	NM_001182.5(ALDH7A1):c.509C>T:p.Pro170Leu	coding	Pathogenic
5	126583223	A	T	A126583223T	ALDH7A1	NM_001182.5(ALDH7A1):c.394-249T>A	noncoding	Benign
5	126583949	G	A	G126583949A	ALDH7A1	NM_001182.5(ALDH7A1):c.376C>T:p.Gln126Ter	coding	Pathogenic
5	126584126	T	C	T126584126C	ALDH7A1	NM_001182.5(ALDH7A1):c.313-114A>G	noncoding	Benign
5	126584186	T	C	T126584186C	ALDH7A1	NM_001182.5(ALDH7A1):c.313-174A>G	noncoding	Benign
5	126593350	C	T	C126593350T	ALDH7A1	NM_001182.5(ALDH7A1):c.246+1G>A	noncoding	Pathogenic/Likely_pathogenic
5	126593356	G	A	G126593356A	ALDH7A1	NM_001182.5(ALDH7A1):c.241C>T:p.Arg81Ter	coding	Pathogenic
5	126595069	C	A	C126595069A	ALDH7A1	NM_001182.5(ALDH7A1):c.130G>T:p.Glu44Ter	coding	Pathogenic
5	126776437	C	G	C126776437G	LMNB1	NR_134485.1(LMNB1-DT):n.50G>C	noncoding	Benign
5	126776449	G	A	G126776449A	LMNB1	NR_134485.1(LMNB1-DT):n.38C>T	noncoding	Benign
5	126776461	C	A	C126776461A	LMNB1	NR_134485.1(LMNB1-DT):n.26G>T	noncoding	Benign
5	126776477	T	C	T126776477C	LMNB1	NR_134485.1(LMNB1-DT):n.10A>G	noncoding	Benign
5	126776591	C	A	C126776591A	LMNB1	Single_allele	noncoding	Benign
5	126777537	G	T	G126777537T	LMNB1	NM_005573.4(LMNB1):c.29G>T:p.Arg10Leu	coding	Benign
5	126777601	G	A	G126777601A	LMNB1	NM_005573.4(LMNB1):c.93G>A:p.Gln31=	coding	Benign
5	126777777	G	C	G126777777C	LMNB1	NM_005573.4(LMNB1):c.269G>C:p.Arg90Pro	coding	Pathogenic
5	126777796	G	C	G126777796C	LMNB1	NM_005573.4(LMNB1):c.288G>C:p.Thr96=	coding	Benign
5	126804658	A	G	A126804658G	LMNB1	NM_005573.4(LMNB1):c.360-118A>G	noncoding	Benign
5	126804757	C	T	C126804757T	LMNB1	NM_005573.4(LMNB1):c.360-19C>T	noncoding	Benign
5	126810079	A	G	A126810079G	LMNB1	NM_005573.4(LMNB1):c.643-101A>G	noncoding	Benign
5	126810537	A	G	A126810537G	LMNB1	NM_005573.4(LMNB1):c.813+187A>G	noncoding	Benign
5	126820846	T	G	T126820846G	LMNB1	NM_005573.4(LMNB1):c.1161-64T>G	noncoding	Benign
5	126820859	G	A	G126820859A	LMNB1	NM_005573.4(LMNB1):c.1161-51G>A	noncoding	Benign
5	126820946	A	C	A126820946C	LMNB1	NM_005573.4(LMNB1):c.1197A>C:p.Thr399=	coding	Benign
5	126822763	C	G	C126822763G	LMNB1	NM_005573.4(LMNB1):c.1387-18C>G	noncoding	Benign
5	126825937	G	A	G126825937A	LMNB1	NM_005573.4(LMNB1):c.1492-51G>A	noncoding	Benign
5	126826270	T	G	T126826270G	LMNB1	NM_005573.4(LMNB1):c.1611+163T>G	noncoding	Benign
5	127299975	G	C	G127299975C	MEGF10	NM_001256545.2(MEGF10):c.-19+8919G>C	noncoding	Benign
5	127339409	G	C	G127339409C	MEGF10	NM_001256545.2(MEGF10):c.218+188G>C	noncoding	Benign
5	127340551	T	G	T127340551G	MEGF10	NM_001256545.2(MEGF10):c.240T>G:p.Tyr80Ter	coding	Pathogenic
5	127370228	G	A	G127370228A	MEGF10	NM_001256545.2(MEGF10):c.412+226G>A	noncoding	Benign
5	127398575	A	G	A127398575G	MEGF10	NM_001256545.2(MEGF10):c.660-101A>G	noncoding	Benign
5	127398603	C	T	C127398603T	MEGF10	NM_001256545.2(MEGF10):c.660-73C>T	noncoding	Benign
5	127417358	C	A	C127417358A	MEGF10	NM_001256545.2(MEGF10):c.1131-280C>A	noncoding	Benign
5	127434864	C	T	C127434864T	MEGF10	NM_001256545.2(MEGF10):c.1975+43C>T	noncoding	Benign
5	127435509	A	C	A127435509C	MEGF10	NM_001256545.2(MEGF10):c.2104+20A>C	noncoding	Benign
5	127440931	T	G	T127440931G	MEGF10	NM_001256545.2(MEGF10):c.2362+64T>G	noncoding	Benign
5	127445876	G	A	G127445876A	MEGF10	NM_001256545.2(MEGF10):c.2728+183G>A	noncoding	Benign
5	127447865	C	A	C127447865A	MEGF10	NM_001256545.2(MEGF10):c.2856+181C>A	noncoding	Benign
5	127455276	A	T	A127455276T	MEGF10	NM_001256545.2(MEGF10):c.3026-125A>T	noncoding	Benign
5	127455544	A	T	A127455544T	MEGF10	NM_001256545.2(MEGF10):c.3169A>T:p.Arg1057Ter	coding	Pathogenic
5	127457070	T	C	T127457070C	MEGF10	NM_001256545.2(MEGF10):c.3233-58T>C	noncoding	Benign
5	128084056	G	A	G128084056A	SLC12A2	NM_001046.3(SLC12A2):c.102G>A:p.Leu34=	coding	Benign
5	128084101	G	T	G128084101T	SLC12A2	NM_001046.3(SLC12A2):c.147G>T:p.Ala49=	coding	Benign
5	128084110	C	G	C128084110G	SLC12A2	NM_001046.3(SLC12A2):c.156C>G:p.Asp52Glu	coding	Benign
5	128084215	C	T	C128084215T	SLC12A2	NM_001046.3(SLC12A2):c.261C>T:p.Ser87=	coding	Benign
5	128084257	G	A	G128084257A	SLC12A2	NM_001046.3(SLC12A2):c.303G>A:p.Ala101=	coding	Benign/Likely_benign
5	128084449	C	T	C128084449T	SLC12A2	NM_001046.3(SLC12A2):c.495C>T:p.Asp165=	coding	Benign
5	128084478	G	C	G128084478C	SLC12A2	NM_001046.3(SLC12A2):c.524G>C:p.Gly175Ala	coding	Benign
5	128085008	T	C	T128085008C	SLC12A2	NM_001046.3(SLC12A2):c.756+298T>C	noncoding	Benign
5	128114579	C	T	C128114579T	SLC12A2	NM_001046.3(SLC12A2):c.953-7C>T	noncoding	Benign/Likely_benign
5	128114590	A	G	A128114590G	SLC12A2	NM_001046.3(SLC12A2):c.957A>G:p.Leu319=	coding	Benign
5	128114889	T	A	T128114889A	SLC12A2	NM_001046.3(SLC12A2):c.1048+208T>A	noncoding	Benign
5	128134029	A	G	A128134029G	SLC12A2	NM_001046.3(SLC12A2):c.1189-136A>G	noncoding	Benign
5	128134167	A	G	A128134167G	SLC12A2	NM_001046.3(SLC12A2):c.1191A>G:p.Glu397=	coding	Benign
5	128134410	G	A	G128134410A	SLC12A2	NM_001046.3(SLC12A2):c.1299+135G>A	noncoding	Benign
5	128135462	G	A	G128135462A	SLC12A2	NM_001046.3(SLC12A2):c.1300-238G>A	noncoding	Benign
5	128141726	T	C	T128141726C	SLC12A2	NM_001046.3(SLC12A2):c.1622-104T>C	noncoding	Benign
5	128147905	A	G	A128147905G	SLC12A2	NM_001046.3(SLC12A2):c.1881+176A>G	noncoding	Benign
5	128148886	T	C	T128148886C	SLC12A2	NM_001046.3(SLC12A2):c.2005+9T>C	noncoding	Benign
5	128149907	C	T	C128149907T	SLC12A2	NM_001046.3(SLC12A2):c.2006-90C>T	noncoding	Benign
5	128150109	A	G	A128150109G	SLC12A2	NM_001046.3(SLC12A2):c.2107+11A>G	noncoding	Benign
5	128152764	A	C	A128152764C	SLC12A2	NM_001046.3(SLC12A2):c.2322A>C:p.Ser774=	coding	Benign
5	128157987	A	G	A128157987G	SLC12A2	NM_001046.3(SLC12A2):c.2364-66A>G	noncoding	Benign
5	128158002	G	A	G128158002A	SLC12A2	NM_001046.3(SLC12A2):c.2364-51G>A	noncoding	Benign
5	128158069	A	G	A128158069G	SLC12A2	NM_001046.3(SLC12A2):c.2380A>G:p.Met794Val	coding	Benign
5	128168087	T	C	T128168087C	SLC12A2	NM_001046.3(SLC12A2):c.2723+220T>C	noncoding	Benign
5	128168089	C	T	C128168089T	SLC12A2	NM_001046.3(SLC12A2):c.2723+222C>T	noncoding	Benign
5	128171691	A	T	A128171691T	SLC12A2	NM_001046.3(SLC12A2):c.2748A>T:p.Gly916=	coding	Benign
5	128177181	A	C	A128177181C	SLC12A2	NM_001046.3(SLC12A2):c.2977+29A>C	noncoding	Benign
5	128178702	A	T	A128178702T	SLC12A2	NM_001046.3(SLC12A2):c.3100+13A>T	noncoding	Benign
5	128178744	A	T	A128178744T	SLC12A2	NM_001046.3(SLC12A2):c.3100+55A>T	noncoding	Benign
5	128181008	A	C	A128181008C	SLC12A2	NM_001046.3(SLC12A2):c.3212+14A>C	noncoding	Benign
5	128182613	C	T	C128182613T	SLC12A2	NM_001046.3(SLC12A2):c.3213-242C>T	noncoding	Benign
5	128184821	A	G	A128184821G	SLC12A2	NM_001046.3(SLC12A2):c.3468A>G:p.Leu1156=	coding	Benign
5	128186851	C	T	C128186851T	SLC12A2	NM_001046.3(SLC12A2):c.*220C>T	noncoding	Benign
5	128259520	C	A	C128259520A	FBN2	NM_001999.4(FBN2):c.8674G>T:p.Asp2892Tyr	coding	Benign/Likely_benign
5	128259635	G	A	G128259635A	FBN2	NM_001999.4(FBN2):c.8559C>T:p.Leu2853=	coding	Benign/Likely_benign
5	128261570	T	A	T128261570A	FBN2	NM_001999.4(FBN2):c.8364+166A>T	noncoding	Benign
5	128261768	T	G	T128261768G	FBN2	NM_001999.4(FBN2):c.8332A>C:p.Lys2778Gln	coding	Benign/Likely_benign
5	128263345	C	A	C128263345A	FBN2	NM_001999.4(FBN2):c.8192+80G>T	noncoding	Benign
5	128263535	G	C	G128263535C	FBN2	NM_001999.4(FBN2):c.8082C>G:p.His2694Gln	coding	Benign
5	128263835	T	C	T128263835C	FBN2	NM_001999.4(FBN2):c.7961-179A>G	noncoding	Benign
5	128272242	T	C	T128272242C	FBN2	NM_001999.4(FBN2):c.7841-124A>G	noncoding	Benign
5	128274301	C	T	C128274301T	FBN2	NM_001999.4(FBN2):c.7711+266G>A	noncoding	Benign
5	128276026	C	T	C128276026T	FBN2	NM_001999.4(FBN2):c.7594+12G>A	noncoding	Benign/Likely_benign
5	128277966	T	C	T128277966C	FBN2	NM_001999.4(FBN2):c.7385A>G:p.Asn2462Ser	coding	Benign
5	128278799	A	G	A128278799G	FBN2	NM_001999.4(FBN2):c.7181T>C:p.Ile2394Thr	coding	Benign/Likely_benign
5	128278870	G	T	G128278870T	FBN2	NM_001999.4(FBN2):c.7139-29C>A	noncoding	Benign
5	128286740	C	T	C128286740T	FBN2	NM_001999.4(FBN2):c.6990G>A:p.Arg2330=	coding	Benign/Likely_benign
5	128287208	T	C	T128287208C	FBN2	NM_001999.4(FBN2):c.6880+100A>G	noncoding	Benign
5	128287423	G	A	G128287423A	FBN2	NM_001999.4(FBN2):c.6765C>T:p.Asn2255=	coding	Benign/Likely_benign
5	128287513	C	T	C128287513T	FBN2	NM_001999.4(FBN2):c.6758-83G>A	noncoding	Benign
5	128288936	T	G	T128288936G	FBN2	NM_001999.4(FBN2):c.6637+191A>C	noncoding	Benign
5	128289191	G	A	G128289191A	FBN2	NM_001999.4(FBN2):c.6573C>T:p.Asp2191=	coding	Benign/Likely_benign
5	128289342	G	C	G128289342C	FBN2	NM_001999.4(FBN2):c.6512-90C>G	noncoding	Benign
5	128289712	A	G	A128289712G	FBN2	NM_001999.4(FBN2):c.6511+170T>C	noncoding	Benign
5	128289725	T	C	T128289725C	FBN2	NM_001999.4(FBN2):c.6511+157A>G	noncoding	Benign
5	128291427	A	T	A128291427T	FBN2	NM_001999.4(FBN2):c.6292+102T>A	noncoding	Benign
5	128291568	G	C	G128291568C	FBN2	NM_001999.4(FBN2):c.6253C>G:p.Pro2085Ala	coding	Benign/Likely_benign
5	128291867	C	T	C128291867T	FBN2	NM_001999.4(FBN2):c.6167-213G>A	noncoding	Benign
5	128301520	A	G	A128301520G	FBN2	NM_001999.4(FBN2):c.5918-10T>C	noncoding	Benign/Likely_benign
5	128301670	A	G	A128301670G	FBN2	NM_001999.4(FBN2):c.5918-160T>C	noncoding	Benign
5	128301712	C	T	C128301712T	FBN2	NM_001999.4(FBN2):c.5918-202G>A	noncoding	Benign
5	128303160	T	C	T128303160C	FBN2	NM_001999.4(FBN2):c.5801-71A>G	noncoding	Benign
5	128304903	C	G	C128304903G	FBN2	NM_001999.4(FBN2):c.5800+54G>C	noncoding	Benign
5	128305234	C	T	C128305234T	FBN2	NM_001999.4(FBN2):c.5675-152G>A	noncoding	Benign
5	128305253	T	C	T128305253C	FBN2	NM_001999.4(FBN2):c.5675-171A>G	noncoding	Benign
5	128305884	G	A	G128305884A	FBN2	NM_001999.4(FBN2):c.5487C>T:p.Gly1829=	coding	Benign/Likely_benign
5	128305941	A	G	A128305941G	FBN2	NM_001999.4(FBN2):c.5430T>C:p.Asp1810=	coding	Benign/Likely_benign
5	128309637	T	G	T128309637G	FBN2	NM_001999.4(FBN2):c.5201-238A>C	noncoding	Benign
5	128309960	T	A	T128309960A	FBN2	NM_001999.4(FBN2):c.5200+23A>T	noncoding	Benign
5	128310365	C	T	C128310365T	FBN2	NM_001999.4(FBN2):c.5075-257G>A	noncoding	Benign
5	128311443	G	C	G128311443C	FBN2	NM_001999.4(FBN2):c.4949-18C>G	noncoding	Benign/Likely_benign
5	128318176	A	G	A128318176G	FBN2	NM_001999.4(FBN2):c.4690T>C:p.Leu1564=	coding	Benign/Likely_benign
5	128318626	T	C	T128318626C	FBN2	NM_001999.4(FBN2):c.4594+253A>G	noncoding	Benign
5	128318864	G	A	G128318864A	FBN2	NM_001999.4(FBN2):c.4594+15C>T	noncoding	Benign
5	128330622	G	T	G128330622T	FBN2	NM_001999.4(FBN2):c.4296C>A:p.Tyr1432Ter	coding	Pathogenic
5	128333016	A	G	A128333016G	FBN2	NM_001999.4(FBN2):c.4118T>C:p.Ile1373Thr	coding	Benign
5	128334870	A	C	A128334870C	FBN2	NM_001999.4(FBN2):c.3974-26T>G	noncoding	Pathogenic
5	128335118	G	C	G128335118C	FBN2	NM_001999.4(FBN2):c.3973+52C>G	noncoding	Benign
5	128335176	A	C	A128335176C	FBN2	NM_001999.4(FBN2):c.3967T>G:p.Cys1323Gly	coding	Pathogenic
5	128335533	A	C	A128335533C	FBN2	NM_001999.4(FBN2):c.3769T>G:p.Cys1257Gly	coding	Pathogenic
5	128335566	A	C	A128335566C	FBN2	NM_001999.4(FBN2):c.3736T>G:p.Cys1246Gly	coding	Pathogenic
5	128335566	A	G	A128335566G	FBN2	NM_001999.4(FBN2):c.3736T>C:p.Cys1246Arg	coding	Pathogenic/Likely_pathogenic
5	128338077	G	C	G128338077C	FBN2	NM_001999.4(FBN2):c.3518C>G:p.Thr1173Ser	coding	Benign/Likely_benign
5	128338111	A	G	A128338111G	FBN2	NM_001999.4(FBN2):c.3484T>C:p.Cys1162Arg	coding	Pathogenic
5	128338931	A	G	A128338931G	FBN2	NM_001999.4(FBN2):c.3472+2T>C	noncoding	Pathogenic
5	128338981	A	G	A128338981G	FBN2	NM_001999.4(FBN2):c.3424T>C:p.Cys1142Arg	coding	Pathogenic
5	128345345	G	T	G128345345T	FBN2	NM_001999.4(FBN2):c.3217+12C>A	noncoding	Benign/Likely_benign
5	128350783	T	G	T128350783G	FBN2	NM_001999.4(FBN2):c.2812+85A>C	noncoding	Benign
5	128350784	A	C	A128350784C	FBN2	NM_001999.4(FBN2):c.2812+84T>G	noncoding	Benign
5	128357130	A	G	A128357130G	FBN2	NM_001999.4(FBN2):c.2674+146T>C	noncoding	Benign
5	128366419	C	T	C128366419T	FBN2	NM_001999.4(FBN2):c.2260G>A:p.Gly754Ser	coding	Benign/Likely_benign
5	128366449	T	C	T128366449C	FBN2	NM_001999.4(FBN2):c.2249-19A>G	noncoding	Benign/Likely_benign
5	128369353	C	T	C128369353T	FBN2	NM_001999.4(FBN2):c.2096-19G>A	noncoding	Benign
5	128374681	C	T	C128374681T	FBN2	NM_001999.4(FBN2):c.2042G>A:p.Arg681His	coding	Benign/Likely_benign
5	128374770	A	G	A128374770G	FBN2	NM_001999.4(FBN2):c.1973-20T>C	noncoding	Benign/Likely_benign
5	128376867	T	C	T128376867C	FBN2	NM_001999.4(FBN2):c.1850-14A>G	noncoding	Benign
5	128378812	T	C	T128378812C	FBN2	NM_001999.4(FBN2):c.1682A>G:p.His561Arg	coding	Benign
5	128379011	G	A	G128379011A	FBN2	NM_001999.4(FBN2):c.1604-121C>T	noncoding	Benign
5	128379091	T	G	T128379091G	FBN2	NM_001999.4(FBN2):c.1604-201A>C	noncoding	Benign
5	128395517	T	G	T128395517G	FBN2	NM_001999.4(FBN2):c.1079-243A>C	noncoding	Benign
5	128408695	T	C	T128408695C	FBN2	NM_001999.4(FBN2):c.1057A>G:p.Thr353Ala	coding	Benign/Likely_benign
5	128446340	T	G	T128446340G	FBN2	NM_001999.4(FBN2):c.952+141A>C	noncoding	Benign
5	128464772	G	C	G128464772C	FBN2	NM_001999.4(FBN2):c.778C>G:p.Pro260Ala	coding	Benign/Likely_benign
5	128519627	T	C	T128519627C	FBN2	NM_001999.4(FBN2):c.533-259A>G	noncoding	Benign
5	128521800	A	G	A128521800G	FBN2	NM_001999.4(FBN2):c.533-2432T>C	noncoding	Benign
5	128536621	A	G	A128536621G	FBN2	NM_001999.4(FBN2):c.255-137T>C	noncoding	Benign
5	128537260	T	A	T128537260A	FBN2	NM_001999.4(FBN2):c.254+90A>T	noncoding	Benign
5	128537385	G	A	G128537385A	FBN2	NM_001999.4(FBN2):c.219C>T:p.Arg73=	coding	Benign
5	129028421	G	T	G129028421T	SLC27A6	NM_001017372.3(SLC27A6):c.1531G>T:p.Val511Phe	coding	Pathogenic
5	129647849	C	T	C129647849T	ADAMTS19	NM_133638.6(ADAMTS19):c.1957C>T:p.Arg653Ter	coding	Pathogenic
5	129647876	C	T	C129647876T	ADAMTS19	NM_133638.6(ADAMTS19):c.1984C>T:p.Arg662Ter	coding	Pathogenic
5	129647896	G	T	G129647896T	ADAMTS19	NM_133638.6(ADAMTS19):c.2003+1G>T	coding	Pathogenic
5	129737114	C	T	C129737114T	ADAMTS19	NM_133638.6(ADAMTS19):c.3538C>T:p.Arg1180Ter	coding	Pathogenic
5	131159460	C	T	C131159460T	HINT1	NM_005340.7(HINT1):c.368G>A:p.Trp123Ter	coding	Pathogenic
5	131159545	G	A	G131159545A	HINT1	NM_005340.7(HINT1):c.283C>T:p.Arg95Ter	coding	Pathogenic
5	131162629	C	T	C131162629T	HINT1	NM_005340.7(HINT1):c.159G>A:p.Leu53=	coding	Benign/Likely_benign
5	131164755	G	C	G131164755C	HINT1	NM_005340.7(HINT1):c.111+340C>G	noncoding	Benign
5	131164827	A	C	A131164827C	HINT1	NM_005340.7(HINT1):c.111+268T>G	noncoding	Benign
5	131164887	C	G	C131164887G	HINT1	NM_005340.7(HINT1):c.111+208G>C	noncoding	Benign
5	131165106	C	A	C131165106A	HINT1	NM_005340.7(HINT1):c.100G>T:p.Glu34Ter	coding	Pathogenic
5	131171022	T	C	T131171022C	LYRM7	NM_181705.4(LYRM7):c.2T>C:p.Met1Thr	coding	Pathogenic
5	131182049	C	A	C131182049A	LYRM7	NM_181705.4(LYRM7):c.92-180C>A	noncoding	Benign
5	131182077	A	G	A131182077G	LYRM7	NM_181705.4(LYRM7):c.92-152A>G	noncoding	Benign
5	131182159	T	C	T131182159C	LYRM7	NM_181705.4(LYRM7):c.92-70T>C	noncoding	Benign
5	131182237	A	C	A131182237C	LYRM7	NM_181705.4(LYRM7):c.100A>C:p.Ile34Leu	coding	Benign/Likely_benign
5	131182488	G	A	G131182488A	LYRM7	NM_181705.4(LYRM7):c.162+189G>A	noncoding	Benign
5	131186892	A	G	A131186892G	LYRM7	NM_181705.4(LYRM7):c.163-136A>G	noncoding	Benign
5	131187221	A	G	A131187221G	LYRM7	NM_181705.4(LYRM7):c.244+112A>G	noncoding	Benign
5	131647159	C	T	C131647159T	FNIP1	NM_133372.3(FNIP1):c.3353G>A:p.Ser1118Asn	coding	Pathogenic
5	131651801	C	T	C131651801T	FNIP1	NM_133372.3(FNIP1):c.3306+1G>A	noncoding	Pathogenic
5	131672501	T	C	T131672501C	FNIP1	NM_133372.3(FNIP1):c.1943A>G:p.Gln648Arg	coding	Benign
5	131706457	G	A	G131706457A	FNIP1	NM_133372.3(FNIP1):c.868C>T:p.Arg290Ter	coding	Pathogenic
5	132294369	C	G	C132294369G	SLC22A4	Single_allele	noncoding	Benign
5	132294955	C	T	C132294955T	SLC22A4	NM_003059.3(SLC22A4):c.339C>T:p.Cys113=	coding	Benign
5	132295159	A	C	A132295159C	SLC22A4	NM_003059.3(SLC22A4):c.393+150A>C	noncoding	Benign
5	132312208	C	A	C132312208A	SLC22A4	NM_003059.3(SLC22A4):c.441C>A:p.Ser147=	coding	Benign
5	132313493	A	G	A132313493G	SLC22A4	NM_003059.3(SLC22A4):c.498-121A>G	noncoding	Benign
5	132313529	G	A	G132313529A	SLC22A4	NM_003059.3(SLC22A4):c.498-85G>A	noncoding	Benign
5	132313594	T	C	T132313594C	SLC22A4	NM_003059.3(SLC22A4):c.498-20T>C	noncoding	Benign
5	132313607	T	C	T132313607C	SLC22A4	NM_003059.3(SLC22A4):c.498-7T>C	noncoding	Benign
5	132313722	C	T	C132313722T	SLC22A4	NM_003059.3(SLC22A4):c.606C>T:p.Ile202=	coding	Benign
5	132322091	G	C	G132322091C	SLC22A4	NM_003059.3(SLC22A4):c.653-93G>C	noncoding	Benign
5	132327369	T	C	T132327369C	SLC22A4	NM_003059.3(SLC22A4):c.917T>C:p.Ile306Thr	coding	Benign
5	132331660	A	G	A132331660G	SLC22A4	NM_003059.3(SLC22A4):c.952-96A>G	noncoding	Benign
5	132331855	G	A	G132331855A	SLC22A4	NM_003059.3(SLC22A4):c.1046+5G>A	noncoding	Benign
5	132334522	G	A	G132334522A	SLC22A4	NM_003059.3(SLC22A4):c.1047-196G>A	noncoding	Benign
5	132334853	C	G	C132334853G	SLC22A4	NM_003059.3(SLC22A4):c.1182C>G:p.Thr394=	coding	Benign
5	132334951	T	C	T132334951C	SLC22A4	NM_003059.3(SLC22A4):c.1261+19T>C	noncoding	Benign
5	132336076	T	C	T132336076C	SLC22A4	NM_003059.3(SLC22A4):c.1444+76T>C	noncoding	Benign
5	132369028	T	G	T132369028G	SLC22A5	NC_000005.9:g.131704720T>G	noncoding	Benign
5	132369527	C	T	C132369527T	SLC22A5	Single_allele	noncoding	Benign
5	132369574	G	C	G132369574C	SLC22A5	Single_allele	noncoding	Benign
5	132369605	T	G	T132369605G	SLC22A5	Single_allele	noncoding	Benign
5	132369974	T	C	T132369974C	SLC22A5	NM_003060.4(SLC22A5):c.2T>C:p.Met1Thr	coding	Pathogenic
5	132370009	G	T	G132370009T	SLC22A5	NM_003060.4(SLC22A5):c.37G>T:p.Glu13Ter	coding	Pathogenic
5	132370012	T	A	T132370012A	SLC22A5	NM_003060.4(SLC22A5):c.40T>A:p.Trp14Arg	coding	Pathogenic
5	132370064	C	T	C132370064T	SLC22A5	NM_003060.4(SLC22A5):c.92C>T:p.Pro31Leu	coding	Pathogenic
5	132370085	C	A	C132370085A	SLC22A5	NM_003060.4(SLC22A5):c.113C>A:p.Ser38Tyr	coding	Pathogenic
5	132370255	C	G	C132370255G	SLC22A5	NM_003060.4(SLC22A5):c.283C>G:p.Leu95Val	coding	Pathogenic
5	132370300	C	T	C132370300T	SLC22A5	NM_003060.4(SLC22A5):c.328C>T:p.Gln110Ter	coding	Pathogenic
5	132370597	G	A	G132370597A	SLC22A5	NM_003060.4(SLC22A5):c.393+232G>A	noncoding	Benign
5	132370679	C	T	C132370679T	SLC22A5	NM_003060.4(SLC22A5):c.393+314C>T	noncoding	Benign
5	132378002	C	G	C132378002G	SLC22A5	NM_003060.4(SLC22A5):c.394-376C>G	noncoding	Benign
5	132378403	G	A	G132378403A	SLC22A5	NM_003060.4(SLC22A5):c.419G>A:p.Trp140Ter	coding	Pathogenic
5	132378404	G	A	G132378404A	SLC22A5	NM_003060.4(SLC22A5):c.420G>A:p.Trp140Ter	coding	Pathogenic
5	132378439	G	A	G132378439A	SLC22A5	NM_003060.4(SLC22A5):c.455G>A:p.Gly152Asp	coding	Pathogenic/Likely_pathogenic
5	132378463	C	A	C132378463A	SLC22A5	NM_003060.4(SLC22A5):c.479C>A:p.Ser160Ter	coding	Pathogenic
5	132378806	G	A	G132378806A	SLC22A5	NM_003060.4(SLC22A5):c.497+325G>A	noncoding	Benign
5	132383997	G	T	G132383997T	SLC22A5	NM_003060.4(SLC22A5):c.498-150G>T	noncoding	Benign
5	132384280	T	C	T132384280C	SLC22A5	NM_003060.4(SLC22A5):c.631T>C:p.Tyr211His	coding	Pathogenic/Likely_pathogenic
5	132385326	A	C	A132385326C	SLC22A5	NM_003060.4(SLC22A5):c.653-2A>C	noncoding	Pathogenic/Likely_pathogenic
5	132385415	C	G	C132385415G	SLC22A5	NM_003060.4(SLC22A5):c.740C>G:p.Pro247Arg	coding	Pathogenic
5	132386639	C	T	C132386639T	SLC22A5	NM_003060.4(SLC22A5):c.825-386C>T	noncoding	Benign
5	132387035	G	T	G132387035T	SLC22A5	NM_003060.4(SLC22A5):c.835G>T:p.Glu279Ter	coding	Pathogenic
5	132387039	C	T	C132387039T	SLC22A5	NM_003060.4(SLC22A5):c.839C>T:p.Ser280Phe	coding	Pathogenic
5	132387047	T	C	T132387047C	SLC22A5	NM_003060.4(SLC22A5):c.847T>C:p.Trp283Arg	coding	Pathogenic
5	132387059	C	T	C132387059T	SLC22A5	NM_003060.4(SLC22A5):c.859C>T:p.Gln287Ter	coding	Pathogenic
5	132387102	C	A	C132387102A	SLC22A5	NM_003060.4(SLC22A5):c.902C>A:p.Ala301Asp	coding	Pathogenic
5	132387259	C	T	C132387259T	SLC22A5	NM_003060.4(SLC22A5):c.951+108C>T	noncoding	Benign
5	132388945	C	T	C132388945T	SLC22A5	NM_003060.4(SLC22A5):c.976C>T:p.Gln326Ter	coding	Pathogenic
5	132389122	A	G	A132389122G	SLC22A5	NM_003060.4(SLC22A5):c.1052+101A>G	noncoding	Benign/Likely_benign
5	132390546	C	T	C132390546T	SLC22A5	NM_003060.4(SLC22A5):c.1053-144C>T	noncoding	Benign
5	132390709	T	A	T132390709A	SLC22A5	NM_003060.4(SLC22A5):c.1072T>A:p.Tyr358Asn	coding	Pathogenic
5	132392216	G	C	G132392216C	SLC22A5	NM_003060.4(SLC22A5):c.1268-217G>C	noncoding	Benign
5	132392501	G	T	G132392501T	SLC22A5	NM_003060.4(SLC22A5):c.1336G>T:p.Val446Phe	coding	Pathogenic
5	132392512	C	A	C132392512A	SLC22A5	NM_003060.4(SLC22A5):c.1347C>A:p.Tyr449Ter	coding	Pathogenic
5	132392611	C	G	C132392611G	SLC22A5	NM_003060.4(SLC22A5):c.1446C>G:p.Tyr482Ter	coding	Pathogenic
5	132556665	C	T	C132556665T	RAD50	Single_allele	noncoding	Benign
5	132557637	T	C	T132557637C	RAD50	NM_005732.4(RAD50):c.129+184T>C	noncoding	Benign
5	132557689	C	A	C132557689A	RAD50	NM_005732.4(RAD50):c.129+236C>A	noncoding	Benign
5	132559293	G	T	G132559293T	RAD50	NM_005732.4(RAD50):c.139G>T:p.Glu47Ter	coding	Pathogenic
5	132559307	T	A	T132559307A	RAD50	NM_005732.4(RAD50):c.153T>A:p.Tyr51Ter	coding	Pathogenic
5	132575843	A	C	A132575843C	RAD50	NM_005732.4(RAD50):c.280A>C:p.Ile94Leu	coding	Benign/Likely_benign
5	132575852	C	T	C132575852T	RAD50	NM_005732.4(RAD50):c.289C>T:p.Gln97Ter	coding	Pathogenic
5	132576155	G	C	G132576155C	RAD50	NM_005732.4(RAD50):c.365+227G>C	noncoding	Benign
5	132579022	T	C	T132579022C	RAD50	NM_005732.4(RAD50):c.366-295T>C	noncoding	Benign
5	132579366	G	T	G132579366T	RAD50	NM_005732.4(RAD50):c.415G>T:p.Glu139Ter	coding	Pathogenic
5	132579383	T	G	T132579383G	RAD50	NM_005732.4(RAD50):c.432T>G:p.Leu144=	coding	Benign
5	132579442	G	A	G132579442A	RAD50	NM_005732.4(RAD50):c.491G>A:p.Trp164Ter	coding	Pathogenic
5	132579911	C	T	C132579911T	RAD50	NM_005732.4(RAD50):c.601C>T:p.Gln201Ter	coding	Pathogenic
5	132579920	A	T	A132579920T	RAD50	NM_005732.4(RAD50):c.610A>T:p.Lys204Ter	coding	Pathogenic
5	132588086	C	T	C132588086T	RAD50	NM_005732.4(RAD50):c.1048C>T:p.Gln350Ter	coding	Pathogenic
5	132588147	A	T	A132588147T	RAD50	NM_005732.4(RAD50):c.1051+58A>T	noncoding	Benign
5	132588686	G	T	G132588686T	RAD50	NM_005732.4(RAD50):c.1052-1G>T	noncoding	Pathogenic/Likely_pathogenic
5	132588874	A	G	A132588874G	RAD50	NM_005732.4(RAD50):c.1239A>G:p.Gln413=	coding	Benign/Likely_benign
5	132588903	T	C	T132588903C	RAD50	NM_005732.4(RAD50):c.1245+23T>C	noncoding	Benign
5	132589482	A	C	A132589482C	RAD50	NM_005732.4(RAD50):c.1246-149A>C	noncoding	Benign
5	132589589	T	A	T132589589A	RAD50	NM_005732.4(RAD50):c.1246-42T>A	noncoding	Benign
5	132589725	C	G	C132589725G	RAD50	NM_005732.4(RAD50):c.1340C>G:p.Ser447Ter	coding	Pathogenic
5	132589797	C	A	C132589797A	RAD50	NM_005732.4(RAD50):c.1412C>A:p.Ser471Ter	coding	Pathogenic
5	132590946	C	A	C132590946A	RAD50	NM_005732.4(RAD50):c.1453-278C>A	noncoding	Benign
5	132591021	C	G	C132591021G	RAD50	NM_005732.4(RAD50):c.1453-203C>G	noncoding	Benign
5	132591106	G	A	G132591106A	RAD50	NM_005732.4(RAD50):c.1453-118G>A	noncoding	Benign
5	132591278	G	T	G132591278T	RAD50	NM_005732.4(RAD50):c.1507G>T:p.Glu503Ter	coding	Pathogenic
5	132591347	G	T	G132591347T	RAD50	NM_005732.4(RAD50):c.1576G>T:p.Glu526Ter	coding	Pathogenic
5	132591350	C	T	C132591350T	RAD50	NM_005732.4(RAD50):c.1579C>T:p.Gln527Ter	coding	Pathogenic
5	132591399	A	G	A132591399G	RAD50	NM_005732.4(RAD50):c.1628A>G:p.Lys543Arg	coding	Benign
5	132591929	T	G	T132591929G	RAD50	NM_005732.4(RAD50):c.1688T>G:p.Leu563Ter	coding	Pathogenic
5	132591978	G	A	G132591978A	RAD50	NM_005732.4(RAD50):c.1737G>A:p.Trp579Ter	coding	Pathogenic
5	132592018	A	T	A132592018T	RAD50	NM_005732.4(RAD50):c.1777A>T:p.Arg593Ter	coding	Pathogenic
5	132592056	T	C	T132592056C	RAD50	NM_005732.4(RAD50):c.1793+22T>C	noncoding	Benign
5	132595074	A	C	A132595074C	RAD50	NM_005732.4(RAD50):c.1969+30A>C	noncoding	Benign
5	132595646	C	A	C132595646A	RAD50	NM_005732.4(RAD50):c.2043C>A:p.Cys681Ter	coding	Pathogenic
5	132595724	T	C	T132595724C	RAD50	NM_005732.4(RAD50):c.2121T>C:p.Leu707=	coding	Benign/Likely_benign
5	132603487	C	T	C132603487T	RAD50	NM_005732.4(RAD50):c.2395C>T:p.Gln799Ter	coding	Pathogenic
5	132603805	A	G	A132603805G	RAD50	NM_005732.4(RAD50):c.2398-115A>G	noncoding	Benign
5	132603929	A	T	A132603929T	RAD50	NM_005732.4(RAD50):c.2407A>T:p.Lys803Ter	coding	Pathogenic
5	132603971	C	T	C132603971T	RAD50	NM_005732.4(RAD50):c.2449C>T:p.Gln817Ter	coding	Pathogenic
5	132604046	G	A	G132604046A	RAD50	NM_005732.4(RAD50):c.2524G>A:p.Val842Ile	coding	Pathogenic
5	132604212	T	G	T132604212G	RAD50	NM_005732.4(RAD50):c.2524+166T>G	noncoding	Benign
5	132604649	G	A	G132604649A	RAD50	NM_005732.4(RAD50):c.2525-157G>A	noncoding	Benign
5	132604901	A	T	A132604901T	RAD50	NM_005732.4(RAD50):c.2620A>T:p.Lys874Ter	coding	Pathogenic
5	132604987	C	G	C132604987G	RAD50	NM_005732.4(RAD50):c.2706C>G:p.Tyr902Ter	coding	Pathogenic
5	132605012	A	G	A132605012G	RAD50	NM_005732.4(RAD50):c.2718+13A>G	noncoding	Benign
5	132608437	G	A	G132608437A	RAD50	NM_005732.4(RAD50):c.2719-178G>A	noncoding	Benign
5	132608663	C	T	C132608663T	RAD50	NM_005732.4(RAD50):c.2767C>T:p.Gln923Ter	coding	Pathogenic
5	132609429	C	T	C132609429T	RAD50	NM_005732.4(RAD50):c.3036+33C>T	noncoding	Benign
5	132616126	A	T	A132616126T	RAD50	NM_005732.4(RAD50):c.3160A>T:p.Lys1054Ter	coding	Pathogenic
5	132616270	A	G	A132616270G	RAD50	NM_005732.4(RAD50):c.3164+140A>G	noncoding	Benign
5	132616304	T	C	T132616304C	RAD50	NM_005732.4(RAD50):c.3164+174T>C	noncoding	Benign
5	132617735	C	T	C132617735T	RAD50	NM_005732.4(RAD50):c.3165-335C>T	noncoding	Benign
5	132617818	A	G	A132617818G	RAD50	NM_005732.4(RAD50):c.3165-252A>G	noncoding	Benign
5	132618176	G	T	G132618176T	RAD50	NM_005732.4(RAD50):c.3271G>T:p.Glu1091Ter	coding	Pathogenic
5	132637224	A	G	A132637224G	RAD50	NM_005732.4(RAD50):c.3475+24A>G	noncoding	Benign
5	132637262	A	G	A132637262G	RAD50	NM_005732.4(RAD50):c.3475+62A>G	noncoding	Benign
5	132637376	T	C	T132637376C	RAD50	NM_005732.4(RAD50):c.3475+176T>C	noncoding	Benign
5	132637485	A	G	A132637485G	RAD50	NM_005732.4(RAD50):c.3475+285A>G	noncoding	Benign
5	132637971	T	C	T132637971C	RAD50	NM_005732.4(RAD50):c.3476-110T>C	noncoding	Benign
5	132638371	T	A	T132638371A	RAD50	NM_005732.4(RAD50):c.3618+148T>A	noncoding	Benign
5	132641435	C	T	C132641435T	RAD50	NM_005732.4(RAD50):c.3752+630C>T	noncoding	Benign
5	132642648	C	G	C132642648G	RAD50	NM_005732.4(RAD50):c.*284C>G	noncoding	Benign
5	132862507	G	A	G132862507A	GDF9	NM_005260.7(GDF9):c.447C>T:p.Thr149=	coding	Benign
5	132862595	C	G	C132862595G	GDF9	NM_005260.7(GDF9):c.398-39G>C	noncoding	Benign
5	132864365	C	A	C132864365A	GDF9	NM_005260.7(GDF9):c.169G>T:p.Asp57Tyr	coding	Benign
5	132864636	G	T	G132864636T	GDF9	NM_005260.7(GDF9):c.-103C>A	noncoding	Benign
5	132866569	A	G	A132866569G	UQCRQ	NM_001288824.4(GDF9):c.-32+30T>C	noncoding	Benign
5	132866707	T	C	T132866707C	UQCRQ	NM_014402.5(UQCRQ):c.-14+20T>C	noncoding	Benign
5	132866719	C	G	C132866719G	UQCRQ	NM_014402.5(UQCRQ):c.-14+32C>G	noncoding	Benign
5	132867460	T	G	T132867460G	UQCRQ	NM_014402.5(UQCRQ):c.155-28T>G	noncoding	Benign
5	132867593	C	T	C132867593T	UQCRQ	NM_014402.5(UQCRQ):c.*11C>T	noncoding	Benign
5	132881375	C	A	C132881375A	AFF4	NM_014423.4(AFF4):c.3365-189G>T	noncoding	Benign
5	132883095	C	A	C132883095A	AFF4	NM_014423.4(AFF4):c.3364+245G>T	noncoding	Benign
5	132883258	A	G	A132883258G	AFF4	NM_014423.4(AFF4):c.3364+82T>C	noncoding	Benign
5	132883383	G	A	G132883383A	AFF4	NM_014423.4(AFF4):c.3321C>T:p.Thr1107=	coding	Benign
5	132883612	A	T	A132883612T	AFF4	NM_014423.4(AFF4):c.3144-52T>A	noncoding	Benign
5	132883692	G	A	G132883692A	AFF4	NM_014423.4(AFF4):c.3144-132C>T	noncoding	Benign
5	132885056	C	T	C132885056T	AFF4	NM_014423.4(AFF4):c.3143+20G>A	noncoding	Benign
5	132891985	A	G	A132891985G	AFF4	NM_014423.4(AFF4):c.2637+179T>C	noncoding	Benign
5	132892272	T	C	T132892272C	AFF4	NM_014423.4(AFF4):c.2529A>G:p.Ser843=	coding	Benign
5	132892316	C	G	C132892316G	AFF4	NM_014423.4(AFF4):c.2485G>C:p.Gly829Arg	coding	Benign
5	132892356	G	A	G132892356A	AFF4	NM_014423.4(AFF4):c.2445C>T:p.Pro815=	coding	Benign/Likely_benign
5	132892418	C	T	C132892418T	AFF4	NM_014423.4(AFF4):c.2397-14G>A	noncoding	Benign
5	132892441	A	G	A132892441G	AFF4	NM_014423.4(AFF4):c.2397-37T>C	noncoding	Benign
5	132893131	T	C	T132893131C	AFF4	NM_014423.4(AFF4):c.2308-13A>G	noncoding	Benign
5	132893291	G	A	G132893291A	AFF4	NM_014423.4(AFF4):c.2308-173C>T	noncoding	Benign
5	132896623	G	A	G132896623A	AFF4	NM_014423.4(AFF4):c.2007C>T:p.Pro669=	coding	Benign
5	132898218	C	A	C132898218A	AFF4	NM_014423.4(AFF4):c.1389+12G>T	noncoding	Benign
5	132898403	T	C	T132898403C	AFF4	NM_014423.4(AFF4):c.1227-11A>G	noncoding	Benign
5	132899010	A	G	A132899010G	AFF4	NM_014423.4(AFF4):c.1226+94T>C	noncoding	Benign
5	132904247	C	G	C132904247G	AFF4	NM_014423.4(AFF4):c.1087+121G>C	noncoding	Benign
5	132904417	A	T	A132904417T	AFF4	NM_014423.4(AFF4):c.1051-13T>A	noncoding	Benign
5	132904421	T	G	T132904421G	AFF4	NM_014423.4(AFF4):c.1051-17A>C	noncoding	Benign
5	132904459	T	C	T132904459C	AFF4	NM_014423.4(AFF4):c.1051-55A>G	noncoding	Benign
5	132904623	A	G	A132904623G	AFF4	NM_014423.4(AFF4):c.1051-219T>C	noncoding	Benign
5	132932167	A	T	A132932167T	AFF4	NM_014423.4(AFF4):c.963+11T>A	noncoding	Benign
5	132934235	C	G	C132934235G	AFF4	NM_014423.4(AFF4):c.830G>C:p.Ser277Thr	coding	Benign/Likely_benign
5	132934282	G	A	G132934282A	AFF4	NM_014423.4(AFF4):c.783C>T:p.Asp261=	coding	Benign
5	132934971	T	A	T132934971A	AFF4	NM_014423.4(AFF4):c.124-30A>T	noncoding	Benign
5	132935025	C	T	C132935025T	AFF4	NM_014423.4(AFF4):c.124-84G>A	noncoding	Benign
5	132937339	T	C	T132937339C	AFF4	NM_014423.4(AFF4):c.-4-146A>G	noncoding	Benign
5	134199106	G	A	G134199106A	PPP2CA	NM_002715.4(PPP2CA):c.837C>T:p.Asp279=	coding	Benign
5	134200501	A	G	A134200501G	PPP2CA	NM_002715.4(PPP2CA):c.577-5T>C	noncoding	Benign
5	134200968	T	C	T134200968C	PPP2CA	NM_002715.4(PPP2CA):c.576+17A>G	noncoding	Benign
5	134200984	C	T	C134200984T	PPP2CA	NM_002715.4(PPP2CA):c.576+1G>A	noncoding	Pathogenic
5	134201828	T	C	T134201828C	PPP2CA	NM_002715.4(PPP2CA):c.486+20A>G	noncoding	Benign
5	134201857	C	T	C134201857T	PPP2CA	NM_002715.4(PPP2CA):c.477G>A:p.Val159=	coding	Benign
5	134201981	T	C	T134201981C	PPP2CA	NM_002715.4(PPP2CA):c.353A>G:p.His118Arg	coding	Pathogenic
5	134225898	G	C	G134225898C	PPP2CA	NM_002715.4(PPP2CA):c.-37C>G	noncoding	Benign
5	134606802	T	C	T134606802C	SAR1B	NM_016103.4(SAR1B):c.*148A>G	noncoding	Benign
5	134607079	A	G	A134607079G	SAR1B	NM_016103.4(SAR1B):c.481-13T>C	noncoding	Benign/Likely_benign
5	134608167	C	G	C134608167G	SAR1B	NM_016103.4(SAR1B):c.480+205G>C	noncoding	Benign
5	134608247	G	T	G134608247T	SAR1B	NM_016103.4(SAR1B):c.480+125C>A	noncoding	Benign
5	134609662	C	T	C134609662T	SAR1B	NM_016103.4(SAR1B):c.257G>A:p.Trp86Ter	coding	Pathogenic
5	134612682	G	A	G134612682A	SAR1B	NM_016103.4(SAR1B):c.244+9C>T	noncoding	Benign/Likely_benign
5	134620978	G	A	G134620978A	SAR1B	NM_016103.4(SAR1B):c.133C>T:p.Leu45=	coding	Benign
5	134874531	G	A	G134874531A	TXNDC15	NM_024715.4(TXNDC15):c.103+1G>A	coding	Pathogenic/Likely_pathogenic
5	134887831	G	A	G134887831A	TXNDC15	NM_024715.4(TXNDC15):c.240G>A:p.Ala80=	coding	Benign
5	134887903	A	G	A134887903G	TXNDC15	NM_024715.4(TXNDC15):c.312A>G:p.Lys104=	coding	Benign
5	134887967	G	A	G134887967A	TXNDC15	NM_024715.4(TXNDC15):c.376G>A:p.Val126Ile	coding	Benign
5	134888114	G	C	G134888114C	TXNDC15	NM_024715.4(TXNDC15):c.523G>C:p.Val175Leu	coding	Benign
5	134893535	T	C	T134893535C	TXNDC15	NM_024715.4(TXNDC15):c.635T>C:p.Leu212Pro	coding	Pathogenic
5	135028725	G	A	G135028725A	PITX1	NM_002653.5(PITX1):c.*54C>T	noncoding	Benign
5	135028931	C	T	C135028931T	PITX1	NM_002653.5(PITX1):c.793G>A:p.Gly265Ser	coding	Benign
5	135029380	C	T	C135029380T	PITX1	NM_002653.5(PITX1):c.403-59G>A	noncoding	Benign
5	135029401	T	C	T135029401C	PITX1	NM_002653.5(PITX1):c.403-80A>G	noncoding	Benign
5	135031183	T	G	T135031183G	PITX1	NM_002653.5(PITX1):c.402+93A>C	noncoding	Benign
5	135031639	A	G	A135031639G	PITX1	NM_002653.5(PITX1):c.170-131T>C	noncoding	Benign
5	135033568	G	A	G135033568A	PITX1	NM_002653.5(PITX1):c.169+145C>T	noncoding	Benign
5	135034102	C	A	C135034102A	PITX1	NM_002653.5(PITX1):c.-221G>T	noncoding	Benign
5	135034491	C	T	C135034491T	PITX1	Single_allele	noncoding	Benign
5	136046403	G	C	G136046403C	TGFBI	NM_000358.3(TGFBI):c.367G>C:p.Asp123His	coding	Benign
5	137625482	G	A	G137625482A	KLHL3	NM_017415.3(KLHL3):c.1735+271C>T	noncoding	Benign
5	137625711	T	C	T137625711C	KLHL3	NM_017415.3(KLHL3):c.1735+42A>G	noncoding	Benign
5	137625724	G	A	G137625724A	KLHL3	NM_017415.3(KLHL3):c.1735+29C>T	noncoding	Benign
5	137628057	A	G	A137628057G	KLHL3	NM_017415.3(KLHL3):c.1591+240T>C	noncoding	Benign
5	137628068	C	G	C137628068G	KLHL3	NM_017415.3(KLHL3):c.1591+229G>C	noncoding	Benign
5	137628698	T	A	T137628698A	KLHL3	NM_017415.3(KLHL3):c.1451-261A>T	noncoding	Benign
5	137628700	T	A	T137628700A	KLHL3	NM_017415.3(KLHL3):c.1451-263A>T	noncoding	Benign
5	137628702	T	A	T137628702A	KLHL3	NM_017415.3(KLHL3):c.1451-265A>T	noncoding	Benign
5	137628732	G	T	G137628732T	KLHL3	NM_017415.3(KLHL3):c.1451-295C>A	noncoding	Benign
5	137634264	C	T	C137634264T	KLHL3	NM_017415.3(KLHL3):c.1322-99G>A	noncoding	Benign
5	137636971	A	C	A137636971C	KLHL3	NM_017415.3(KLHL3):c.1321+323T>G	noncoding	Benign
5	137637012	G	C	G137637012C	KLHL3	NM_017415.3(KLHL3):c.1321+282C>G	noncoding	Benign
5	137637071	C	A	C137637071A	KLHL3	NM_017415.3(KLHL3):c.1321+223G>T	noncoding	Benign
5	137639190	C	T	C137639190T	KLHL3	NM_017415.3(KLHL3):c.1022-40G>A	noncoding	Benign
5	137639374	A	T	A137639374T	KLHL3	NM_017415.3(KLHL3):c.1022-224T>A	noncoding	Benign
5	137639432	C	T	C137639432T	KLHL3	NM_017415.3(KLHL3):c.1022-282G>A	noncoding	Benign
5	137639998	G	A	G137639998A	KLHL3	NM_017415.3(KLHL3):c.904-21C>T	noncoding	Benign
5	137640130	A	G	A137640130G	KLHL3	NM_017415.3(KLHL3):c.904-153T>C	noncoding	Benign
5	137640275	C	T	C137640275T	KLHL3	NM_017415.3(KLHL3):c.904-298G>A	noncoding	Benign
5	137662338	A	G	A137662338G	KLHL3	NM_017415.3(KLHL3):c.637-307T>C	noncoding	Benign
5	137692073	T	C	T137692073C	KLHL3	NM_017415.3(KLHL3):c.526+212A>G	noncoding	Benign
5	137692264	A	T	A137692264T	KLHL3	NM_017415.3(KLHL3):c.526+21T>A	noncoding	Benign
5	137698480	C	T	C137698480T	KLHL3	NM_017415.3(KLHL3):c.242-72G>A	noncoding	Benign
5	137720215	A	G	A137720215G	KLHL3	NM_017415.3(KLHL3):c.134+250T>C	noncoding	Benign
5	137720338	T	C	T137720338C	KLHL3	NM_017415.3(KLHL3):c.134+127A>G	noncoding	Benign
5	137735355	C	T	C137735355T	KLHL3	NM_017415.3(KLHL3):c.14+278G>A	noncoding	Benign
5	137735376	C	A	C137735376A	KLHL3	NM_017415.3(KLHL3):c.14+257G>T	noncoding	Benign
5	137871235	C	T	C137871235T	MYOT	NM_006790.3(MYOT):c.356+228C>T	noncoding	Benign
5	137875546	C	T	C137875546T	MYOT	NM_006790.3(MYOT):c.357-283C>T	noncoding	Benign
5	137881947	T	C	T137881947C	MYOT	NM_006790.3(MYOT):c.684-26T>C	noncoding	Benign
5	137883548	T	C	T137883548C	MYOT	NM_006790.3(MYOT):c.981T>C:p.Asn327=	coding	Benign/Likely_benign
5	137886029	T	A	T137886029A	MYOT	NM_006790.3(MYOT):c.1025-19T>A	noncoding	Benign
5	138115748	C	T	C138115748T	NME5	NM_003551.3(NME5):c.572G>A:p.Trp191Ter	coding	Pathogenic
5	138179704	G	A	G138179704A	KIF20A	NM_005733.3(KIF20A):c.24G>A:p.Pro8=	coding	Benign
5	138179704	G	C	G138179704C	KIF20A	NM_005733.3(KIF20A):c.24G>C:p.Pro8=	coding	Benign
5	138181665	T	G	T138181665G	KIF20A	NM_005733.3(KIF20A):c.312T>G:p.Ser104=	coding	Benign
5	138182480	C	T	C138182480T	KIF20A	NM_005733.3(KIF20A):c.514+19C>T	noncoding	Benign
5	138182615	C	T	C138182615T	KIF20A	NM_005733.3(KIF20A):c.544C>T:p.Arg182Trp	coding	Pathogenic
5	138182776	A	G	A138182776G	KIF20A	NM_005733.3(KIF20A):c.702+3A>G	noncoding	Benign
5	138183218	G	A	G138183218A	KIF20A	NM_005733.3(KIF20A):c.882G>A:p.Pro294=	coding	Benign
5	138183332	C	T	C138183332T	KIF20A	NM_005733.3(KIF20A):c.996C>T:p.Cys332=	coding	Benign
5	138183684	C	T	C138183684T	KIF20A	NM_005733.3(KIF20A):c.1140-4C>T	noncoding	Benign
5	138185637	C	T	C138185637T	KIF20A	NM_005733.3(KIF20A):c.2052C>T:p.Ala684=	coding	Benign
5	138186063	C	T	C138186063T	KIF20A	NM_005733.3(KIF20A):c.2217+11C>T	noncoding	Benign
5	138187219	A	C	A138187219C	KIF20A	NM_005733.3(KIF20A):c.2479A>C:p.Lys827Gln	coding	Benign
5	138187256	C	T	C138187256T	KIF20A	NM_005733.3(KIF20A):c.2516C>T:p.Pro839Leu	coding	Benign
5	138372745	C	T	C138372745T	KDM3B	NM_016604.4(KDM3B):c.264C>T:p.Ile88=	coding	Benign
5	138372812	C	T	C138372812T	KDM3B	NM_016604.4(KDM3B):c.331C>T:p.Arg111Ter	coding	Pathogenic
5	138381524	G	A	G138381524A	KDM3B	NM_016604.4(KDM3B):c.714G>A:p.Glu238=	coding	Benign
5	138381576	G	A	G138381576A	KDM3B	NM_016604.4(KDM3B):c.766G>A:p.Ala256Thr	coding	Benign
5	138398392	C	T	C138398392T	KDM3B	NM_016604.4(KDM3B):c.3046C>T:p.Gln1016Ter	coding	Pathogenic
5	138417606	C	G	C138417606G	KDM3B	NM_016604.4(KDM3B):c.3431C>G:p.Ser1144Ter	coding	Pathogenic
5	138419006	T	C	T138419006C	KDM3B	NM_016604.4(KDM3B):c.3489T>C:p.Gly1163=	coding	Benign
5	138419119	G	A	G138419119A	KDM3B	NM_016604.4(KDM3B):c.3602G>A:p.Ser1201Asn	coding	Benign
5	138424308	G	A	G138424308A	KDM3B	NM_016604.4(KDM3B):c.4206G>A:p.Trp1402Ter	coding	Pathogenic
5	138439392	C	T	C138439392T	REEP2	NM_001271803.2(REEP2):c.32+152C>T	noncoding	Benign
5	138441242	C	T	C138441242T	REEP2	NM_001271803.2(REEP2):c.106-143C>T	noncoding	Benign
5	138441398	T	G	T138441398G	REEP2	NM_001271803.2(REEP2):c.119T>G:p.Met40Arg	coding	Pathogenic/Likely_pathogenic
5	138441580	A	G	A138441580G	REEP2	NM_001271803.2(REEP2):c.182+119A>G	noncoding	Benign
5	138444647	T	C	T138444647C	REEP2	NM_001271803.2(REEP2):c.304-107T>C	noncoding	Benign
5	138444679	C	A	C138444679A	REEP2	NM_001271803.2(REEP2):c.304-75C>A	noncoding	Benign
5	138444942	C	T	C138444942T	REEP2	NM_001271803.2(REEP2):c.417+75C>T	noncoding	Benign
5	138445390	C	T	C138445390T	REEP2	NM_001271803.2(REEP2):c.565+15C>T	noncoding	Benign
5	138445611	G	A	G138445611A	REEP2	NM_001271803.2(REEP2):c.696+13G>A	noncoding	Benign/Likely_benign
5	138556481	G	A	G138556481A	HSPA9	NM_004134.7(HSPA9):c.1933C>T:p.Leu645=	coding	Benign
5	138753397	G	A	G138753397A	CTNNA1	Single_allele	noncoding	Benign
5	138782249	A	G	A138782249G	CTNNA1	NM_001903.5(CTNNA1):c.105+220A>G	noncoding	Benign
5	138783299	G	A	G138783299A	CTNNA1	NM_001903.5(CTNNA1):c.228G>A:p.Gly76=	coding	Benign/Likely_benign
5	138783392	T	G	T138783392G	CTNNA1	NM_001903.5(CTNNA1):c.301+20T>G	noncoding	Benign
5	138809771	C	T	C138809771T	CTNNA1	NM_001903.5(CTNNA1):c.302-267C>T	noncoding	Benign
5	138810534	T	C	T138810534C	CTNNA1	NM_001903.5(CTNNA1):c.468+330T>C	noncoding	Benign
5	138812197	C	T	C138812197T	CTNNA1	NM_001903.5(CTNNA1):c.483C>T:p.Ile161=	coding	Benign/Likely_benign
5	138812250	C	T	C138812250T	CTNNA1	NM_001903.5(CTNNA1):c.536C>T:p.Ala179Val	coding	Benign/Likely_benign
5	138812375	T	C	T138812375C	CTNNA1	NM_001903.5(CTNNA1):c.588+73T>C	noncoding	Benign
5	138824367	A	G	A138824367G	CTNNA1	NM_001903.5(CTNNA1):c.589-163A>G	noncoding	Benign
5	138824711	A	G	A138824711G	CTNNA1	NM_001903.5(CTNNA1):c.770A>G:p.Asn257Ser	coding	Benign
5	138824815	G	A	G138824815A	CTNNA1	NM_001903.5(CTNNA1):c.858+16G>A	noncoding	Benign
5	138827553	G	A	G138827553A	CTNNA1	NM_001903.5(CTNNA1):c.897G>A:p.Glu299=	coding	Benign/Likely_benign
5	138827578	C	T	C138827578T	CTNNA1	NM_001903.5(CTNNA1):c.922C>T:p.Arg308Cys	coding	Benign/Likely_benign
5	138827887	T	C	T138827887C	CTNNA1	NM_001903.5(CTNNA1):c.1062+169T>C	noncoding	Benign
5	138886204	T	G	T138886204G	CTNNA1	NM_001903.5(CTNNA1):c.1063-8T>G	noncoding	Benign/Likely_benign
5	138886300	G	C	G138886300C	CTNNA1	NM_001903.5(CTNNA1):c.1143+8G>C	noncoding	Benign
5	138887305	C	G	C138887305G	CTNNA1	NM_001903.5(CTNNA1):c.1144-185C>G	noncoding	Benign
5	138887609	A	G	A138887609G	CTNNA1	NM_001903.5(CTNNA1):c.1263A>G:p.Gln421=	coding	Benign/Likely_benign
5	138887944	A	G	A138887944G	CTNNA1	NM_001903.5(CTNNA1):c.1296+302A>G	noncoding	Benign
5	138904362	C	T	C138904362T	CTNNA1	NM_001903.5(CTNNA1):c.1310C>T:p.Ala437Val	coding	Benign/Likely_benign
5	138904451	A	T	A138904451T	CTNNA1	NM_001903.5(CTNNA1):c.1389+10A>T	noncoding	Benign/Likely_benign
5	138917731	A	G	A138917731G	CTNNA1	NM_001903.5(CTNNA1):c.1390-11A>G	noncoding	Benign/Likely_benign
5	138924296	A	T	A138924296T	CTNNA1	NM_001903.5(CTNNA1):c.1547-214A>T	noncoding	Benign
5	138924301	C	A	C138924301A	CTNNA1	NM_001903.5(CTNNA1):c.1547-209C>A	noncoding	Benign
5	138924730	C	G	C138924730G	CTNNA1	NM_001903.5(CTNNA1):c.1747+20C>G	noncoding	Benign
5	138925240	G	C	G138925240C	CTNNA1	NM_001903.5(CTNNA1):c.1748-16G>C	noncoding	Benign
5	138925425	A	G	A138925425G	CTNNA1	NM_001903.5(CTNNA1):c.1899+18A>G	noncoding	Benign
5	138930377	A	G	A138930377G	CTNNA1	NM_001903.5(CTNNA1):c.2011-96A>G	noncoding	Benign
5	138932503	T	A	T138932503A	CTNNA1	NM_001903.5(CTNNA1):c.2299-75T>A	noncoding	Benign
5	138933774	C	A	C138933774A	CTNNA1	NM_001903.5(CTNNA1):c.2434-28C>A	noncoding	Benign
5	138933797	C	T	C138933797T	CTNNA1	NM_001903.5(CTNNA1):c.2434-5C>T	noncoding	Benign/Likely_benign
5	138933798	G	A	G138933798A	CTNNA1	NM_001903.5(CTNNA1):c.2434-4G>A	noncoding	Benign/Likely_benign
5	138934469	C	T	C138934469T	CTNNA1	NM_001903.5(CTNNA1):c.*380C>T	noncoding	Benign
5	138947182	C	A	C138947182A	SIL1	NM_022464.5(SIL1):c.1321G>T:p.Glu441Ter	coding	Pathogenic
5	138947342	C	T	C138947342T	SIL1	NM_022464.5(SIL1):c.1161G>A:p.Ala387=	coding	Benign/Likely_benign
5	138951374	G	T	G138951374T	SIL1	NM_022464.5(SIL1):c.865-39C>A	noncoding	Benign
5	139021170	C	T	C139021170T	SIL1	NM_022464.5(SIL1):c.767+1G>A	noncoding	Pathogenic
5	139021294	T	C	T139021294C	SIL1	NM_022464.5(SIL1):c.646-2A>G	noncoding	Pathogenic
5	139026558	G	C	G139026558C	SIL1	NM_022464.5(SIL1):c.645+243C>G	noncoding	Benign
5	139121227	A	G	A139121227G	SIL1	NM_022464.5(SIL1):c.106-54T>C	noncoding	Benign
5	139121305	G	A	G139121305A	SIL1	NM_022464.5(SIL1):c.106-132C>T	noncoding	Benign
5	139294274	T	G	T139294274G	MATR3	NM_018834.6(MATR3):c.-178+469T>G	noncoding	Benign
5	139314772	G	A	G139314772A	MATR3	NM_018834.6(MATR3):c.974+36G>A	noncoding	Benign
5	139317049	A	G	A139317049G	MATR3	NM_018834.6(MATR3):c.1130-4A>G	noncoding	Benign
5	139317215	G	A	G139317215A	MATR3	NM_018834.6(MATR3):c.1182+110G>A	noncoding	Benign
5	139317405	G	A	G139317405A	MATR3	NM_018834.6(MATR3):c.1183-191G>A	noncoding	Benign
5	139319314	G	A	G139319314A	MATR3	NM_018834.6(MATR3):c.1435-20G>A	noncoding	Benign
5	139321881	T	C	T139321881C	MATR3	NM_018834.6(MATR3):c.1603-17T>C	noncoding	Benign
5	139322061	A	C	A139322061C	MATR3	NM_018834.6(MATR3):c.1734+32A>C	noncoding	Benign
5	139322255	C	A	C139322255A	MATR3	NM_018834.6(MATR3):c.1735-208C>A	noncoding	Benign
5	139323157	T	G	T139323157G	MATR3	NM_018834.6(MATR3):c.2148+190T>G	noncoding	Benign
5	139325575	G	A	G139325575A	MATR3	NM_018834.6(MATR3):c.2284G>A:p.Ala762Thr	coding	Benign
5	139329372	C	T	C139329372T	MATR3	NM_018834.6(MATR3):c.2521C>T:p.Arg841Cys	coding	Benign/Likely_benign
5	139476472	G	C	G139476472C	STING1	NM_198282.4(STING1):c.947-18C>G	noncoding	Benign
5	139477397	C	T	C139477397T	STING1	NM_198282.4(STING1):c.878G>A:p.Arg293Gln	coding	Benign
5	139478340	C	G	C139478340G	STING1	NM_198282.4(STING1):c.689G>C:p.Gly230Ala	coding	Benign
5	139480776	A	T	A139480776T	STING1	NM_198282.4(STING1):c.520+14T>A	noncoding	Benign
5	139480853	A	T	A139480853T	STING1	NM_198282.4(STING1):c.457T>A:p.Phe153Ile	coding	Pathogenic
5	139481019	C	T	C139481019T	STING1	NM_198282.4(STING1):c.412-121G>A	noncoding	Benign
5	139481145	C	T	C139481145T	STING1	NM_198282.4(STING1):c.411+14G>A	noncoding	Benign
5	139481493	C	T	C139481493T	STING1	NM_198282.4(STING1):c.212G>A:p.Arg71His	coding	Benign
5	140114208	G	A	G140114208A	PURA	NM_005859.5(PURA):c.27G>A:p.Glu9=	coding	Benign
5	140114350	G	T	G140114350T	PURA	NM_005859.5(PURA):c.169G>T:p.Glu57Ter	coding	Pathogenic
5	140114405	T	G	T140114405G	PURA	NM_005859.5(PURA):c.224T>G:p.Leu75Arg	coding	Pathogenic
5	140114416	C	T	C140114416T	PURA	NM_005859.5(PURA):c.235C>T:p.Gln79Ter	coding	Pathogenic
5	140114468	A	G	A140114468G	PURA	NM_005859.5(PURA):c.287A>G:p.Asn96Ser	coding	Benign
5	140114587	C	T	C140114587T	PURA	NM_005859.5(PURA):c.406C>T:p.Gln136Ter	coding	Pathogenic
5	140114661	G	A	G140114661A	PURA	NM_005859.5(PURA):c.480G>A:p.Lys160=	coding	Benign/Likely_benign
5	140114693	G	C	G140114693C	PURA	NM_005859.5(PURA):c.512G>C:p.Arg171Pro	coding	Pathogenic
5	140114724	C	T	C140114724T	PURA	NM_005859.5(PURA):c.543C>T:p.Gly181=	coding	Benign/Likely_benign
5	140114744	T	C	T140114744C	PURA	NM_005859.5(PURA):c.563T>C:p.Ile188Thr	coding	Pathogenic/Likely_pathogenic
5	140114753	C	T	C140114753T	PURA	NM_005859.5(PURA):c.572C>T:p.Pro191Leu	coding	Pathogenic/Likely_pathogenic
5	140114777	G	C	G140114777C	PURA	NM_005859.5(PURA):c.596G>C:p.Arg199Pro	coding	Pathogenic/Likely_pathogenic
5	140114896	A	T	A140114896T	PURA	NM_005859.5(PURA):c.715A>T:p.Lys239Ter	coding	Pathogenic
5	140114983	G	T	G140114983T	PURA	NM_005859.5(PURA):c.802G>T:p.Gly268Ter	coding	Pathogenic
5	140507254	A	G	A140507254G	ANKHD1	NM_017747.3(ANKHD1):c.3551+277A>G	noncoding	Benign
5	140550889	G	A	G140550889A	SRA1	NM_001035235.4(SRA1):c.486C>T:p.Asp162=	coding	Benign
5	140552044	C	G	C140552044G	SRA1	NM_001035235.4(SRA1):c.292G>C:p.Val98Leu	coding	Benign
5	140552154	G	A	G140552154A	SRA1	NM_001035235.4(SRA1):c.182C>T:p.Pro61Leu	coding	Benign
5	140552194	T	A	T140552194A	SRA1	NM_001035235.4(SRA1):c.152-10A>T	noncoding	Benign
5	140552345	C	T	C140552345T	SRA1	NM_001035235.4(SRA1):c.152-161G>A	noncoding	Benign
5	140557175	G	T	G140557175T	SRA1	NM_001035235.4(SRA1):c.123C>A:p.Val41=	coding	Benign
5	140557395	A	G	A140557395G	SRA1	NM_001035235.4(SRA1):c.25+33T>C	coding	Benign
5	140647238	C	T	C140647238T	NDUFA2	NM_002488.5(NDUFA2):c.208+18G>A	noncoding	Benign
5	140648046	A	G	A140648046G	NDUFA2	NM_006083.4(IK):c.16+122A>G	noncoding	Benign
5	140674900	C	T	C140674900T	HARS1	NM_002109.6(HARS1):c.1312-75G>A	noncoding	Benign
5	140675383	C	T	C140675383T	HARS1	NM_002109.6(HARS1):c.1195-250G>A	noncoding	Benign
5	140676919	A	G	A140676919G	HARS1	NM_002109.6(HARS1):c.952-23T>C	noncoding	Benign
5	140676970	C	T	C140676970T	HARS1	NM_002109.6(HARS1):c.951+19G>A	noncoding	Benign
5	140677289	T	C	T140677289C	HARS1	NM_002109.6(HARS1):c.823+38A>G	noncoding	Benign
5	140677437	C	T	C140677437T	HARS1	NM_002109.6(HARS1):c.730-17G>A	noncoding	Benign/Likely_benign
5	140678253	C	T	C140678253T	HARS1	NM_002109.6(HARS1):c.523-238G>A	noncoding	Benign
5	140679308	C	T	C140679308T	HARS1	NM_002109.6(HARS1):c.397-181G>A	noncoding	Benign
5	140679768	G	A	G140679768A	HARS1	NM_002109.6(HARS1):c.396+20C>T	noncoding	Benign
5	140679923	A	G	A140679923G	HARS1	NM_002109.6(HARS1):c.301-40T>C	noncoding	Benign
5	140682962	C	T	C140682962T	HARS1	NM_002109.6(HARS1):c.300+138G>A	noncoding	Benign
5	140683234	C	G	C140683234G	HARS1	NM_002109.6(HARS1):c.181-15G>C	noncoding	Benign
5	140683506	A	G	A140683506G	HARS1	NM_002109.6(HARS1):c.181-287T>C	noncoding	Benign
5	140691134	T	C	T140691134C	HARS1	NM_002109.6(HARS1):c.90+81A>G	noncoding	Benign
5	140694088	C	T	C140694088T	HARS2	NM_012208.4(HARS2):c.303+34C>T	noncoding	Benign
5	140696216	A	G	A140696216G	HARS2	NM_012208.4(HARS2):c.732+15A>G	noncoding	Benign
5	140697048	C	A	C140697048A	HARS2	NM_012208.4(HARS2):c.932C>A:p.Thr311Asn	coding	Benign/Likely_benign
5	140697311	G	T	G140697311T	HARS2	NM_012208.4(HARS2):c.1102G>T:p.Val368Leu	coding	Pathogenic/Likely_pathogenic
5	140697314	G	C	G140697314C	HARS2	NM_012208.4(HARS2):c.1105G>C:p.Gly369Arg	coding	Benign/Likely_benign
5	140698056	G	A	G140698056A	HARS2	NM_012208.4(HARS2):c.1439G>A:p.Arg480His	coding	Pathogenic
5	140858470	T	C	T140858470C	PCDHA10	NM_018901.4(PCDHA10):c.2388+34T>C	coding	Benign
5	141122595	G	A	G141122595A	PCDHB4	NM_018938.4(PCDHB4):c.597G>A:p.Leu199=	coding	Benign
5	141122761	C	T	C141122761T	PCDHB4	NM_018938.4(PCDHB4):c.763C>T:p.Pro255Ser	coding	Benign
5	141122762	C	T	C141122762T	PCDHB4	NM_018938.4(PCDHB4):c.764C>T:p.Pro255Leu	coding	Benign
5	141179739	G	A	G141179739A	PCDHB8	NM_019120.5(PCDHB8):c.1705G>A:p.Gly569Ser	coding	Benign
5	141180098	C	G	C141180098G	PCDHB8	NM_019120.5(PCDHB8):c.2064C>G:p.Thr688=	coding	Benign
5	141344493	A	C	A141344493C	PCDHGA1	NM_018912.3(PCDHGA1):c.2421+11388A>C	coding	Benign
5	141355648	G	A	G141355648A	PCDHGA1	NM_018912.3(PCDHGA1):c.2421+22543G>A	coding	Benign
5	141362171	G	C	G141362171C	PCDHGB1	NM_018922.3(PCDHGB1):c.2409+9502G>C	coding	Benign
5	141362194	A	G	A141362194G	PCDHGA1	NM_018912.3(PCDHGA1):c.2421+29089A>G	coding	Benign
5	141485291	C	T	C141485291T	PCDHGC4	NM_018928.3(PCDHGC4):c.118C>T:p.Gln40Ter	coding	Pathogenic
5	141486416	C	T	C141486416T	PCDHGC4	NM_018928.3(PCDHGC4):c.1243C>T:p.Arg415Ter	coding	Pathogenic
5	141486622	C	G	C141486622G	PCDHGC4	NM_018928.3(PCDHGC4):c.1449C>G:p.Asp483Glu	coding	Pathogenic
5	141486636	C	T	C141486636T	PCDHGC4	NM_018928.3(PCDHGC4):c.1463C>T:p.Ala488Val	coding	Pathogenic
5	141517025	G	A	G141517025A	DIAPH1	NM_005219.5(DIAPH1):c.3662-17C>T	noncoding	Benign
5	141527680	G	A	G141527680A	DIAPH1	NM_005219.5(DIAPH1):c.3166C>T:p.Gln1056Ter	coding	Pathogenic
5	141528579	G	A	G141528579A	DIAPH1	NM_005219.5(DIAPH1):c.3022C>T:p.Arg1008Ter	coding	Pathogenic
5	141534095	T	A	T141534095A	DIAPH1	NM_005219.5(DIAPH1):c.2581+240A>T	noncoding	Benign
5	141573429	C	T	C141573429T	DIAPH1	NM_005219.5(DIAPH1):c.2358+63G>A	noncoding	Benign
5	141573434	C	A	C141573434A	DIAPH1	NM_005219.5(DIAPH1):c.2358+58G>T	noncoding	Benign
5	141574364	C	T	C141574364T	DIAPH1	NM_005219.5(DIAPH1):c.1642-156G>A	noncoding	Benign
5	141574459	A	G	A141574459G	DIAPH1	NM_005219.5(DIAPH1):c.1642-251T>C	noncoding	Benign
5	141577899	A	C	A141577899C	DIAPH1	NM_005219.5(DIAPH1):c.1164-308T>G	noncoding	Benign
5	141578363	A	T	A141578363T	DIAPH1	NM_005219.5(DIAPH1):c.1045-20T>A	noncoding	Benign/Likely_benign
5	141582394	A	G	A141582394G	DIAPH1	NM_005219.5(DIAPH1):c.621-19T>C	noncoding	Benign/Likely_benign
5	141588184	A	G	A141588184G	DIAPH1	NM_005219.5(DIAPH1):c.144+40T>C	noncoding	Benign
5	141618790	A	T	A141618790T	DIAPH1	NM_005219.5(DIAPH1):c.117+8T>A	noncoding	Benign/Likely_benign
5	141618850	C	T	C141618850T	DIAPH1	NM_005219.5(DIAPH1):c.65G>A:p.Ser22Asn	coding	Benign
5	141945526	C	T	C141945526T	PCDH12	NM_016580.4(PCDH12):c.3410G>A:p.Arg1137Gln	coding	Benign
5	141945582	C	G	C141945582G	PCDH12	NM_016580.4(PCDH12):c.3354G>C:p.Glu1118Asp	coding	Benign
5	141945684	T	C	T141945684C	PCDH12	NM_016580.4(PCDH12):c.3252A>G:p.Pro1084=	coding	Benign
5	141945902	G	A	G141945902A	PCDH12	NM_016580.4(PCDH12):c.3131-97C>T	noncoding	Benign
5	141951389	C	T	C141951389T	PCDH12	NM_016580.4(PCDH12):c.2978+104G>A	noncoding	Benign
5	141955289	G	A	G141955289A	PCDH12	NM_016580.4(PCDH12):c.2563C>T:p.Gln855Ter	coding	Pathogenic
5	141955344	C	T	C141955344T	PCDH12	NM_016580.4(PCDH12):c.2508G>A:p.Ala836=	coding	Benign
5	141955356	C	T	C141955356T	PCDH12	NM_016580.4(PCDH12):c.2496G>A:p.Gln832=	coding	Benign
5	141955419	G	T	G141955419T	PCDH12	NM_016580.4(PCDH12):c.2433C>A:p.Cys811Ter	coding	Pathogenic
5	141955428	C	T	C141955428T	PCDH12;RNF14	NM_016580.4(PCDH12):c.2424G>A:p.Trp808Ter	coding	Pathogenic
5	141955676	A	G	A141955676G	PCDH12	NM_016580.4(PCDH12):c.2176T>C:p.Leu726=	coding	Benign
5	141955719	G	A	G141955719A	PCDH12	NM_016580.4(PCDH12):c.2133C>T:p.Ala711=	coding	Benign
5	141955755	C	T	C141955755T	PCDH12	NM_016580.4(PCDH12):c.2097G>A:p.Val699=	coding	Benign
5	141955933	C	T	C141955933T	PCDH12	NM_016580.4(PCDH12):c.1919G>A:p.Ser640Asn	coding	Benign
5	141956029	A	G	A141956029G	PCDH12	NM_016580.4(PCDH12):c.1823T>C:p.Leu608Pro	coding	Benign
5	141956394	A	G	A141956394G	PCDH12	NM_016580.4(PCDH12):c.1458T>C:p.Asp486=	coding	Benign
5	141956536	G	T	G141956536T	PCDH12	NM_016580.4(PCDH12):c.1316C>A:p.Pro439His	coding	Benign
5	141956704	G	C	G141956704C	PCDH12	NM_016580.4(PCDH12):c.1148C>G:p.Ser383Ter	coding	Pathogenic
5	141957336	G	A	G141957336A	PCDH12	NM_016580.4(PCDH12):c.516C>T:p.Tyr172=	coding	Benign
5	141957400	C	T	C141957400T	PCDH12	NM_016580.4(PCDH12):c.452G>A:p.Arg151Gln	coding	Benign
5	141957401	G	A	G141957401A	PCDH12	NM_016580.4(PCDH12):c.451C>T:p.Arg151Ter	coding	Pathogenic
5	141957561	C	T	C141957561T	PCDH12	NM_016580.4(PCDH12):c.291G>A:p.Leu97=	coding	Benign
5	141957611	A	G	A141957611G	PCDH12	NM_016580.4(PCDH12):c.241T>C:p.Ser81Pro	coding	Benign
5	141957612	G	C	G141957612C	PCDH12	NM_016580.4(PCDH12):c.240C>G:p.Asp80Glu	coding	Benign
5	141957660	A	G	A141957660G	PCDH12	NM_016580.4(PCDH12):c.192T>C:p.Ala64=	coding	Benign
5	141957689	G	C	G141957689C	PCDH12	NM_016580.4(PCDH12):c.163C>G:p.Arg55Gly	coding	Benign
5	141959001	C	G	C141959001G	PCDH12	Single_allele	noncoding	Benign
5	141959206	A	G	A141959206G	PCDH12	Single_allele	noncoding	Benign
5	141959262	G	A	G141959262A	PCDH12	Single_allele	noncoding	Benign
5	142314028	C	T	C142314028T	SPRY4	NM_001127496.3(SPRY4):c.*181G>A	noncoding	Benign
5	142314111	C	G	C142314111G	SPRY4	NM_001127496.3(SPRY4):c.*98G>C	noncoding	Benign
5	142315133	G	A	G142315133A	SPRY4	NM_001127496.3(SPRY4):c.-25C>T	coding	Benign
5	142319827	G	A	G142319827A	SPRY4	NM_001127496.3(SPRY4):c.-47-4672C>T	noncoding	Benign
5	143226004	C	T	C143226004T	ARHGAP26	NM_001135608.3(ARHGAP26):c.*3558C>T	noncoding	Benign
5	143300779	C	A	C143300779A	NR3C1	NM_000176.3(NR3C1):c.1469-16G>T	noncoding	Benign
5	143310130	G	A	G143310130A	NR3C1	NM_000176.3(NR3C1):c.1435C>T:p.Arg479Ter	coding	Pathogenic
5	143399752	T	C	T143399752C	NR3C1	NM_000176.3(NR3C1):c.1088A>G:p.Asn363Ser	coding	Benign/Likely_benign
5	143400772	C	T	C143400772T	NR3C1	NM_000176.3(NR3C1):c.68G>A:p.Arg23Lys	coding	Benign/Likely_benign
5	144160519	A	T	A144160519T	YIPF5	NM_030799.9(YIPF5):c.652T>A:p.Trp218Arg	coding	Pathogenic
5	144162287	G	A	G144162287A	YIPF5	NM_030799.9(YIPF5):c.542C>T:p.Ala181Val	coding	Pathogenic
5	144164247	A	C	A144164247C	YIPF5	NM_030799.9(YIPF5):c.293T>G:p.Ile98Ser	coding	Pathogenic
5	144164250	C	A	C144164250A	YIPF5	NM_030799.9(YIPF5):c.290G>T:p.Gly97Val	coding	Pathogenic
5	145859441	A	G	A145859441G	GRXCR2	NM_001080516.2(GRXCR2):c.*292T>C	noncoding	Benign
5	145859556	G	C	G145859556C	GRXCR2	NM_001080516.2(GRXCR2):c.*177C>G	noncoding	Benign
5	145859720	C	G	C145859720G	GRXCR2	NM_001080516.2(GRXCR2):c.*13G>C	noncoding	Benign
5	145866186	A	T	A145866186T	GRXCR2	NM_001080516.2(GRXCR2):c.564+315T>A	noncoding	Benign
5	145866399	C	G	C145866399G	GRXCR2	NM_001080516.2(GRXCR2):c.564+102G>C	noncoding	Benign
5	145866522	T	G	T145866522G	GRXCR2	NM_001080516.2(GRXCR2):c.543A>C:p.Leu181Phe	coding	Benign
5	145867008	T	C	T145867008C	GRXCR2	NM_001080516.2(GRXCR2):c.337-280A>G	noncoding	Benign
5	145872645	C	T	C145872645T	GRXCR2	NM_001080516.2(GRXCR2):c.324G>A:p.Ala108=	coding	Benign
5	145872646	G	A	G145872646A	GRXCR2	NM_001080516.2(GRXCR2):c.323C>T:p.Ala108Val	coding	Pathogenic
5	145873011	C	T	C145873011T	GRXCR2	NM_001080516.2(GRXCR2):c.-43G>A	noncoding	Benign
5	146120214	C	G	C146120214G	LARS1	NM_020117.11(LARS1):c.3325+157G>C	noncoding	Benign
5	146120383	G	A	G146120383A	LARS1	NM_020117.11(LARS1):c.3313C>T:p.Arg1105Ter	coding	Pathogenic/Likely_pathogenic
5	146120538	G	C	G146120538C	LARS1	NM_020117.11(LARS1):c.3193-35C>G	noncoding	Benign
5	146120594	A	G	A146120594G	LARS1	NM_020117.11(LARS1):c.3193-91T>C	noncoding	Benign
5	146120831	T	C	T146120831C	LARS1	NM_020117.11(LARS1):c.3193-328A>G	noncoding	Benign
5	146122766	G	A	G146122766A	LARS1	NM_020117.11(LARS1):c.3097-179C>T	noncoding	Benign
5	146122783	G	C	G146122783C	LARS1	NM_020117.11(LARS1):c.3097-196C>G	noncoding	Benign
5	146123988	C	T	C146123988T	LARS1	NM_020117.11(LARS1):c.3090G>A:p.Ser1030=	coding	Benign
5	146126685	C	T	C146126685T	LARS1	NM_020117.11(LARS1):c.2881-140G>A	noncoding	Benign
5	146128894	T	C	T146128894C	LARS1	NM_020117.11(LARS1):c.2769+84A>G	noncoding	Benign
5	146128908	T	C	T146128908C	LARS1	NM_020117.11(LARS1):c.2769+70A>G	noncoding	Benign
5	146130142	T	C	T146130142C	LARS1	NM_020117.11(LARS1):c.2504A>G:p.Tyr835Cys	coding	Pathogenic
5	146131243	A	G	A146131243G	LARS1	NM_020117.11(LARS1):c.2397-134T>C	noncoding	Benign
5	146131299	G	A	G146131299A	LARS1	NM_020117.11(LARS1):c.2397-190C>T	noncoding	Benign
5	146132827	G	C	G146132827C	LARS1	NM_020117.11(LARS1):c.2396+71C>G	noncoding	Benign
5	146135783	C	T	C146135783T	LARS1	NM_020117.11(LARS1):c.2149-119G>A	noncoding	Benign
5	146140351	T	A	T146140351A	LARS1	NM_020117.11(LARS1):c.2091-90A>T	noncoding	Benign
5	146140385	C	T	C146140385T	LARS1	NM_020117.11(LARS1):c.2091-124G>A	noncoding	Benign
5	146143349	A	G	A146143349G	LARS1	NM_020117.11(LARS1):c.1877+63T>C	noncoding	Benign
5	146143363	A	C	A146143363C	LARS1	NM_020117.11(LARS1):c.1877+49T>G	noncoding	Benign
5	146144838	G	C	G146144838C	LARS1	NM_020117.11(LARS1):c.1504-129C>G	noncoding	Benign
5	146151668	T	C	T146151668C	LARS1	NM_020117.11(LARS1):c.1425+194A>G	noncoding	Benign
5	146153296	T	C	T146153296C	LARS1	NM_020117.11(LARS1):c.1231-69A>G	noncoding	Benign
5	146153313	A	G	A146153313G	LARS1	NM_020117.11(LARS1):c.1231-86T>C	noncoding	Benign
5	146153364	T	C	T146153364C	LARS1	NM_020117.11(LARS1):c.1231-137A>G	noncoding	Benign
5	146153855	T	A	T146153855A	LARS1	NM_020117.11(LARS1):c.1153+38A>T	noncoding	Benign
5	146157345	T	C	T146157345C	LARS1	NM_020117.11(LARS1):c.1065+58A>G	noncoding	Benign
5	146157709	A	T	A146157709T	LARS1	NM_020117.11(LARS1):c.839+19T>A	noncoding	Benign
5	146159265	C	T	C146159265T	LARS1	NM_020117.11(LARS1):c.771+142G>A	noncoding	Benign
5	146159361	T	A	T146159361A	LARS1	NM_020117.11(LARS1):c.771+46A>T	noncoding	Benign
5	146159560	T	A	T146159560A	LARS1	NM_020117.11(LARS1):c.708-90A>T	noncoding	Benign
5	146160656	C	A	C146160656A	LARS1	NM_020117.11(LARS1):c.595-170G>T	noncoding	Benign
5	146171852	G	C	G146171852C	LARS1	NM_020117.11(LARS1):c.294+58C>G	noncoding	Benign
5	146177181	A	G	A146177181G	LARS1	NM_020117.11(LARS1):c.125+366T>C	noncoding	Benign
5	146182580	G	A	G146182580A	LARS1	NM_020117.11(LARS1):c.-87C>T	noncoding	Benign
5	146182719	G	T	G146182719T	LARS1	Single_allele	noncoding	Benign
5	146182788	A	G	A146182788G	LARS1	Single_allele	noncoding	Benign
5	146182863	C	A	C146182863A	LARS1	Single_allele	noncoding	Benign
5	146183002	G	A	G146183002A	LARS1	Single_allele	noncoding	Benign
5	146340121	G	T	G146340121T	POU4F3	NM_002700.3(POU4F3):c.694G>T:p.Glu232Ter	coding	Pathogenic
5	146340313	C	T	C146340313T	POU4F3	NM_002700.3(POU4F3):c.886C>T:p.Gln296Ter	coding	Pathogenic
5	146340674	G	A	G146340674A	POU4F3	NM_002700.3(POU4F3):c.*230G>A	noncoding	Benign
5	146697963	C	T	C146697963T	PPP2R2B	NM_181675.4(PPP2R2B):c.334+16G>A	noncoding	Benign
5	147081126	T	A	T147081126A	PPP2R2B	NM_181677.2(PPP2R2B):c.-130A>T	coding	Benign
5	147827932	T	A	T147827932A	SPINK1	NM_001379610.1(SPINK1):c.194+90A>T	noncoding	Benign/Likely_benign
5	147828042	G	T	G147828042T	SPINK1	NM_001379610.1(SPINK1):c.174C>A:p.Cys58Ter	coding	Pathogenic
5	147828113	C	A	C147828113A	SPINK1	NM_001379610.1(SPINK1):c.103G>T:p.Glu35Ter	coding	Pathogenic
5	147831741	C	G	C147831741G	SPINK1	NM_003122.5(SPINK1):c.-164G>C	noncoding	Benign
5	147831792	C	A	C147831792A	SPINK1	NM_003122.5(SPINK1):c.-191-24G>T	noncoding	Pathogenic
5	147831792	C	T	C147831792T	SPINK1	NM_003122.5(SPINK1):c.-191-24G>A	noncoding	Pathogenic
5	148063797	G	A	G148063797A	SPINK5	NC_000005.9:g.147443360G>A	noncoding	Benign
5	148064092	C	T	C148064092T	SPINK5	NM_006846.4(SPINK5):c.48C>T:p.Leu16=	coding	Benign
5	148065222	A	G	A148065222G	SPINK5	NM_006846.4(SPINK5):c.56-125A>G	noncoding	Benign
5	148065426	G	A	G148065426A	SPINK5	NM_006846.4(SPINK5):c.81+54G>A	noncoding	Benign
5	148065449	T	C	T148065449C	SPINK5	NM_006846.4(SPINK5):c.81+77T>C	noncoding	Benign
5	148065561	A	G	A148065561G	SPINK5	NM_006846.4(SPINK5):c.81+189A>G	noncoding	Benign
5	148070292	A	G	A148070292G	SPINK5	NM_006846.4(SPINK5):c.82-31A>G	noncoding	Benign
5	148070522	C	A	C148070522A	SPINK5	NM_006846.4(SPINK5):c.209+72C>A	noncoding	Benign
5	148086533	G	A	G148086533A	SPINK5	NM_006846.4(SPINK5):c.410+1G>A	coding	Pathogenic
5	148086779	A	C	A148086779C	SPINK5	NM_006846.4(SPINK5):c.410+247A>C	noncoding	Benign
5	148088671	C	G	C148088671G	SPINK5	NM_006846.4(SPINK5):c.474+66C>G	noncoding	Benign
5	148089408	G	C	G148089408C	SPINK5	NM_006846.4(SPINK5):c.475-86G>C	noncoding	Benign
5	148091029	G	C	G148091029C	SPINK5	NM_006846.4(SPINK5):c.603-136G>C	noncoding	Benign
5	148094366	G	T	G148094366T	SPINK5	NM_006846.4(SPINK5):c.679G>T:p.Glu227Ter	coding	Pathogenic
5	148097621	A	G	A148097621G	SPINK5	NM_006846.4(SPINK5):c.883-246A>G	noncoding	Benign
5	148099022	G	A	G148099022A	SPINK5	NM_006846.4(SPINK5):c.1011-212G>A	noncoding	Benign
5	148099418	C	A	C148099418A	SPINK5	NM_006846.4(SPINK5):c.1092+103C>A	noncoding	Benign
5	148099475	T	A	T148099475A	SPINK5	NM_006846.4(SPINK5):c.1092+160T>A	noncoding	Benign
5	148100428	C	T	C148100428T	SPINK5	NM_006846.4(SPINK5):c.1093-26C>T	noncoding	Benign
5	148100472	C	T	C148100472T	SPINK5	NM_006846.4(SPINK5):c.1111C>T:p.Arg371Ter	coding	Pathogenic
5	148101305	G	A	G148101305A	SPINK5	NM_006846.4(SPINK5):c.1221-50G>A	noncoding	Benign
5	148101452	C	T	C148101452T	SPINK5	NM_006846.4(SPINK5):c.1302+16C>T	noncoding	Benign/Likely_benign
5	148101522	A	C	A148101522C	SPINK5	NM_006846.4(SPINK5):c.1302+86A>C	noncoding	Benign
5	148101909	G	T	G148101909T	SPINK5	NM_006846.4(SPINK5):c.1430+1G>T	coding	Pathogenic/Likely_pathogenic
5	148105039	T	G	T148105039G	SPINK5	NM_006846.4(SPINK5):c.1479+39T>G	noncoding	Benign
5	148105257	T	C	T148105257C	SPINK5	NM_006846.4(SPINK5):c.1479+257T>C	noncoding	Benign
5	148107211	C	T	C148107211T	SPINK5	NM_006846.4(SPINK5):c.1607+47C>T	noncoding	Benign
5	148109012	T	C	T148109012C	SPINK5	NM_006846.4(SPINK5):c.1692+175T>C	noncoding	Benign
5	148109037	G	T	G148109037T	SPINK5	NM_006846.4(SPINK5):c.1692+200G>T	noncoding	Benign
5	148109091	A	G	A148109091G	SPINK5	NM_006846.4(SPINK5):c.1692+254A>G	noncoding	Benign
5	148111464	A	G	A148111464G	SPINK5	NM_006846.4(SPINK5):c.1693-304A>G	noncoding	Benign
5	148111468	T	C	T148111468C	SPINK5	NM_006846.4(SPINK5):c.1693-300T>C	noncoding	Benign
5	148111630	A	G	A148111630G	SPINK5	NM_006846.4(SPINK5):c.1693-138A>G	noncoding	Benign
5	148111655	A	G	A148111655G	SPINK5	NM_006846.4(SPINK5):c.1693-113A>G	noncoding	Benign
5	148111736	C	T	C148111736T	SPINK5	NM_006846.4(SPINK5):c.1693-32C>T	noncoding	Benign
5	148111807	C	T	C148111807T	SPINK5	NM_006846.4(SPINK5):c.1732C>T:p.Arg578Ter	coding	Pathogenic
5	148111969	T	C	T148111969C	SPINK5	NM_006846.4(SPINK5):c.1820+74T>C	noncoding	Benign
5	148111989	A	G	A148111989G	SPINK5	NM_006846.4(SPINK5):c.1820+94A>G	noncoding	Benign
5	148112014	C	T	C148112014T	SPINK5	NM_006846.4(SPINK5):c.1820+119C>T	noncoding	Benign
5	148112049	T	C	T148112049C	SPINK5	NM_006846.4(SPINK5):c.1820+154T>C	noncoding	Benign
5	148112061	A	T	A148112061T	SPINK5	NM_006846.4(SPINK5):c.1820+166A>T	noncoding	Benign
5	148112163	T	C	T148112163C	SPINK5	NM_006846.4(SPINK5):c.1820+268T>C	noncoding	Benign
5	148112725	G	A	G148112725A	SPINK5	NM_006846.4(SPINK5):c.1821-143G>A	noncoding	Benign
5	148112726	A	G	A148112726G	SPINK5	NM_006846.4(SPINK5):c.1821-142A>G	noncoding	Benign
5	148112821	T	G	T148112821G	SPINK5	NM_006846.4(SPINK5):c.1821-47T>G	noncoding	Benign
5	148113099	C	A	C148113099A	SPINK5	NM_006846.4(SPINK5):c.1887+165C>A	noncoding	Benign
5	148113116	G	T	G148113116T	SPINK5	NM_006846.4(SPINK5):c.1887+182G>T	noncoding	Benign
5	148113137	C	A	C148113137A	SPINK5	NM_006846.4(SPINK5):c.1887+203C>A	noncoding	Benign
5	148113138	A	G	A148113138G	SPINK5	NM_006846.4(SPINK5):c.1887+204A>G	noncoding	Benign
5	148113155	G	C	G148113155C	SPINK5	NM_006846.4(SPINK5):c.1887+221G>C	noncoding	Benign
5	148113157	A	G	A148113157G	SPINK5	NM_006846.4(SPINK5):c.1887+223A>G	noncoding	Benign
5	148114037	A	T	A148114037T	SPINK5	NM_006846.4(SPINK5):c.1888-325A>T	noncoding	Benign
5	148114270	C	T	C148114270T	SPINK5	NM_006846.4(SPINK5):c.1888-92C>T	noncoding	Benign
5	148114309	T	C	T148114309C	SPINK5	NM_006846.4(SPINK5):c.1888-53T>C	noncoding	Benign
5	148114796	C	T	C148114796T	SPINK5	NM_006846.4(SPINK5):c.2015+307C>T	noncoding	Benign
5	148114805	T	C	T148114805C	SPINK5	NM_006846.4(SPINK5):c.2015+316T>C	noncoding	Benign
5	148118369	T	C	T148118369C	SPINK5	NM_006846.4(SPINK5):c.2113-68T>C	noncoding	Benign
5	148118419	G	A	G148118419A	SPINK5	NM_006846.4(SPINK5):c.2113-18G>A	noncoding	Benign
5	148118960	T	C	T148118960C	SPINK5	NM_006846.4(SPINK5):c.2241-26T>C	noncoding	Benign
5	148119005	A	T	A148119005T	SPINK5	NM_006846.4(SPINK5):c.2260A>T:p.Lys754Ter	coding	Pathogenic
5	148119089	C	G	C148119089G	SPINK5	NM_006846.4(SPINK5):c.2313+31C>G	noncoding	Benign
5	148119106	G	A	G148119106A	SPINK5	NM_006846.4(SPINK5):c.2313+48G>A	noncoding	Benign
5	148119109	G	A	G148119109A	SPINK5	NM_006846.4(SPINK5):c.2313+51G>A	noncoding	Benign
5	148119200	C	A	C148119200A	SPINK5	NM_006846.4(SPINK5):c.2313+142C>A	noncoding	Benign
5	148119688	C	A	C148119688A	SPINK5	NM_006846.4(SPINK5):c.2314-321C>A	noncoding	Benign
5	148119863	A	C	A148119863C	SPINK5	NM_006846.4(SPINK5):c.2314-146A>C	noncoding	Benign
5	148120279	A	G	A148120279G	SPINK5	NM_006846.4(SPINK5):c.2442-16A>G	noncoding	Benign/Likely_benign
5	148120409	C	T	C148120409T	SPINK5	NM_006846.4(SPINK5):c.2538+18C>T	noncoding	Benign
5	148123755	A	G	A148123755G	SPINK5	NM_006846.4(SPINK5):c.2539-78A>G	noncoding	Benign
5	148124976	G	C	G148124976C	SPINK5	NM_006846.4(SPINK5):c.2739+139G>C	noncoding	Benign
5	148124978	A	T	A148124978T	SPINK5	NM_006846.4(SPINK5):c.2739+141A>T	noncoding	Benign
5	148124994	T	G	T148124994G	SPINK5	NM_006846.4(SPINK5):c.2739+157T>G	noncoding	Benign
5	148125056	T	A	T148125056A	SPINK5	NM_006846.4(SPINK5):c.2739+219T>A	noncoding	Benign
5	148125328	C	T	C148125328T	SPINK5	NM_006846.4(SPINK5):c.2740-395C>T	noncoding	Benign
5	148125664	G	A	G148125664A	SPINK5	NM_006846.4(SPINK5):c.2740-59G>A	noncoding	Benign
5	148125741	C	T	C148125741T	SPINK5	NM_006846.4(SPINK5):c.2758C>T:p.Arg920Ter	coding	Pathogenic
5	148126834	C	T	C148126834T	SPINK5	NM_006846.4(SPINK5):c.2868-149C>T	noncoding	Benign
5	148131213	T	C	T148131213C	SPINK5	NM_006846.4(SPINK5):c.2965-46T>C	noncoding	Benign
5	148131283	C	T	C148131283T	SPINK5	NM_006846.4(SPINK5):c.2989C>T:p.Arg997Ter	coding	Pathogenic
5	148133615	C	T	C148133615T	SPINK5	NM_006846.4(SPINK5):c.3096-182C>T	noncoding	Benign
5	148136907	C	G	C148136907G	SPINK5	NM_006846.4(SPINK5):c.3187-76C>G	noncoding	Benign
5	148395099	T	G	T148395099G	FBXO38	NM_205836.3(FBXO38):c.128+195T>G	noncoding	Benign
5	148395143	T	G	T148395143G	FBXO38	NM_205836.3(FBXO38):c.128+239T>G	noncoding	Benign
5	148399355	G	A	G148399355A	FBXO38	NM_205836.3(FBXO38):c.262+223G>A	noncoding	Benign
5	148402169	T	G	T148402169G	FBXO38	NM_205836.3(FBXO38):c.426+24T>G	noncoding	Benign
5	148402425	T	C	T148402425C	FBXO38	NM_205836.3(FBXO38):c.504T>C:p.Phe168=	coding	Benign
5	148402431	T	C	T148402431C	FBXO38	NM_205836.3(FBXO38):c.510T>C:p.Asn170=	coding	Benign
5	148404672	A	T	A148404672T	FBXO38	NM_205836.3(FBXO38):c.593-13A>T	noncoding	Benign
5	148405076	C	G	C148405076G	FBXO38	NM_205836.3(FBXO38):c.730+254C>G	noncoding	Benign
5	148406200	G	A	G148406200A	FBXO38	NM_205836.3(FBXO38):c.731-57G>A	noncoding	Benign
5	148406436	A	G	A148406436G	FBXO38	NM_205836.3(FBXO38):c.868+42A>G	noncoding	Benign
5	148408875	T	C	T148408875C	FBXO38	NM_205836.3(FBXO38):c.869-249T>C	noncoding	Benign
5	148409235	A	G	A148409235G	FBXO38	NM_205836.3(FBXO38):c.962+18A>G	noncoding	Benign
5	148410785	A	C	A148410785C	FBXO38	NM_205836.3(FBXO38):c.1093+20A>C	noncoding	Benign
5	148413843	A	G	A148413843G	FBXO38	NM_205836.3(FBXO38):c.1094-293A>G	noncoding	Benign
5	148414408	G	A	G148414408A	FBXO38	NM_205836.3(FBXO38):c.1264+102G>A	noncoding	Benign
5	148416791	G	A	G148416791A	FBXO38	NM_205836.3(FBXO38):c.1408-203G>A	noncoding	Benign
5	148416970	G	C	G148416970C	FBXO38	NM_205836.3(FBXO38):c.1408-24G>C	noncoding	Benign
5	148417113	C	T	C148417113T	FBXO38	NM_205836.3(FBXO38):c.1527C>T:p.His509=	coding	Benign
5	148423994	G	T	G148423994T	FBXO38	NM_205836.3(FBXO38):c.1619-4G>T	noncoding	Benign
5	148425557	T	C	T148425557C	FBXO38	NM_205836.3(FBXO38):c.1774T>C:p.Ser592Pro	coding	Benign
5	148427635	C	T	C148427635T	FBXO38	NM_205836.3(FBXO38):c.2341C>T:p.Pro781Ser	coding	Benign/Likely_benign
5	148427863	G	A	G148427863A	FBXO38	NM_205836.3(FBXO38):c.2569G>A:p.Val857Met	noncoding	Benign
5	148433235	T	G	T148433235G	FBXO38	NM_205836.3(FBXO38):c.2654-189T>G	noncoding	Benign
5	148433338	T	G	T148433338G	FBXO38	NM_205836.3(FBXO38):c.2654-86T>G	noncoding	Benign
5	148433408	T	C	T148433408C	FBXO38	NM_205836.3(FBXO38):c.2654-16T>C	noncoding	Benign
5	148433521	G	A	G148433521A	FBXO38	NM_205836.3(FBXO38):c.2751G>A:p.Val917=	coding	Benign
5	148438314	A	G	A148438314G	FBXO38	NM_205836.3(FBXO38):c.2858-18A>G	noncoding	Benign
5	148439803	T	C	T148439803C	FBXO38	NM_205836.3(FBXO38):c.3170+11T>C	noncoding	Benign
5	148440140	G	T	G148440140T	FBXO38	NM_205836.3(FBXO38):c.3171-284G>T	noncoding	Benign
5	148440153	T	G	T148440153G	FBXO38	NM_205836.3(FBXO38):c.3171-271T>G	noncoding	Benign
5	148440745	A	G	A148440745G	FBXO38	NM_205836.3(FBXO38):c.3274+218A>G	noncoding	Benign
5	148440782	G	A	G148440782A	FBXO38	NM_205836.3(FBXO38):c.3274+255G>A	noncoding	Benign
5	148441906	C	T	C148441906T	FBXO38	NM_205836.3(FBXO38):c.3389-63C>T	noncoding	Benign
5	148442265	A	G	A148442265G	FBXO38	NM_205836.3(FBXO38):c.*118A>G	noncoding	Benign
5	148826178	G	A	G148826178A	ADRB2	Single_allele	noncoding	Benign
5	148826364	G	C	G148826364C	ADRB2	Single_allele	noncoding	Benign
5	148826426	C	T	C148826426T	ADRB2	Single_allele	noncoding	Benign
5	148826465	C	T	C148826465T	ADRB2	Single_allele	noncoding	Benign
5	148826785	C	T	C148826785T	ADRB2	NM_000024.6(ADRB2):c.-47C>T	noncoding	Benign
5	148826812	C	T	C148826812T	ADRB2	NM_000024.6(ADRB2):c.-20C>T	noncoding	Benign
5	148827083	G	A	G148827083A	ADRB2	NM_000024.6(ADRB2):c.252G>A:p.Leu84=	coding	Benign
5	148827354	C	A	C148827354A	ADRB2	NM_000024.6(ADRB2):c.523C>A:p.Arg175=	coding	Benign
5	148827884	G	C	G148827884C	ADRB2	NM_000024.6(ADRB2):c.1053G>C:p.Gly351=	coding	Benign
5	148828070	G	A	G148828070A	ADRB2	NM_000024.6(ADRB2):c.1239G>A:p.Leu413=	coding	Benign
5	148983239	T	C	T148983239C	SH3TC2	NM_024577.4(SH3TC2):c.*21472A>G	noncoding	Benign/Likely_benign
5	149004996	G	T	G149004996T	SH3TC2	NM_024577.4(SH3TC2):c.3676-94C>A	noncoding	Benign
5	149005000	G	C	G149005000C	SH3TC2	NM_024577.4(SH3TC2):c.3676-98C>G	noncoding	Benign
5	149005153	A	G	A149005153G	SH3TC2	NM_024577.4(SH3TC2):c.3676-251T>C	noncoding	Benign
5	149005171	C	G	C149005171G	SH3TC2	NM_024577.4(SH3TC2):c.3676-269G>C	noncoding	Benign
5	149006929	A	T	A149006929T	SH3TC2	NM_024577.4(SH3TC2):c.3627T>A:p.Tyr1209Ter	coding	Pathogenic
5	149007045	G	A	G149007045A	SH3TC2	NM_024577.4(SH3TC2):c.3511C>T:p.Arg1171Cys	coding	Pathogenic/Likely_pathogenic
5	149010269	C	T	C149010269T	SH3TC2	NM_024577.4(SH3TC2):c.3327+1G>A	noncoding	Pathogenic
5	149010276	G	T	G149010276T	SH3TC2	NM_024577.4(SH3TC2):c.3321C>A:p.Tyr1107Ter	coding	Pathogenic
5	149010732	T	C	T149010732C	SH3TC2	NM_024577.4(SH3TC2):c.3205-340A>G	noncoding	Benign
5	149012710	G	T	G149012710T	SH3TC2	NM_024577.4(SH3TC2):c.3078C>A:p.Cys1026Ter	coding	Pathogenic
5	149013002	T	C	T149013002C	SH3TC2	NM_024577.4(SH3TC2):c.3054-268A>G	noncoding	Benign
5	149026770	A	G	A149026770G	SH3TC2	NM_024577.4(SH3TC2):c.2873-18T>C	noncoding	Benign/Likely_benign
5	149026957	C	T	C149026957T	SH3TC2	NM_024577.4(SH3TC2):c.2775G>A:p.Trp925Ter	coding	Pathogenic
5	149027133	G	A	G149027133A	SH3TC2	NM_024577.4(SH3TC2):c.2599C>T:p.Gln867Ter	coding	Pathogenic
5	149027521	G	T	G149027521T	SH3TC2	NM_024577.4(SH3TC2):c.2211C>A:p.Cys737Ter	coding	Pathogenic
5	149027649	G	A	G149027649A	SH3TC2	NM_024577.4(SH3TC2):c.2083C>T:p.Gln695Ter	coding	Pathogenic
5	149027995	G	T	G149027995T	SH3TC2	NM_024577.4(SH3TC2):c.1737C>A:p.Tyr579Ter	coding	Pathogenic
5	149028186	T	A	T149028186A	SH3TC2	NM_024577.4(SH3TC2):c.1546A>T:p.Lys516Ter	coding	Pathogenic
5	149028555	C	T	C149028555T	SH3TC2	NM_024577.4(SH3TC2):c.1178-1G>A	coding	Pathogenic
5	149038367	C	T	C149038367T	SH3TC2	NM_024577.4(SH3TC2):c.929G>A:p.Gly310Glu	coding	Pathogenic
5	149038376	C	T	C149038376T	SH3TC2	NM_024577.4(SH3TC2):c.920G>A:p.Trp307Ter	coding	Pathogenic
5	149040611	A	C	A149040611C	SH3TC2	NM_024577.4(SH3TC2):c.798T>G:p.Tyr266Ter	coding	Pathogenic
5	149041414	A	C	A149041414C	SH3TC2	NM_024577.4(SH3TC2):c.731+2T>G	noncoding	Pathogenic
5	149041471	G	A	G149041471A	SH3TC2	NM_024577.4(SH3TC2):c.676C>T:p.Gln226Ter	coding	Pathogenic
5	149041527	G	C	G149041527C	SH3TC2	NM_024577.4(SH3TC2):c.620C>G:p.Ser207Ter	coding	Pathogenic
5	149042839	T	G	T149042839G	SH3TC2	NM_024577.4(SH3TC2):c.386-2A>C	noncoding	Pathogenic/Likely_pathogenic
5	149044535	A	C	A149044535C	SH3TC2	NM_024577.4(SH3TC2):c.383T>G:p.Leu128Ter	coding	Pathogenic
5	149044631	G	A	G149044631A	SH3TC2	NM_024577.4(SH3TC2):c.287C>T:p.Ser96Leu	coding	Pathogenic
5	149729916	C	T	C149729916T	PPARGC1B	Single_allele	noncoding	Benign
5	149771756	C	T	C149771756T	PPARGC1B	NM_133263.4(PPARGC1B):c.78+41336C>T	noncoding	Benign
5	149771885	A	T	A149771885T	PPARGC1B	NM_133263.4(PPARGC1B):c.78+41465A>T	noncoding	Benign
5	149772144	G	A	G149772144A	PPARGC1B	NM_133263.4(PPARGC1B):c.78+41724G>A	noncoding	Benign
5	149820326	G	A	G149820326A	PPARGC1B	NM_133263.4(PPARGC1B):c.79-107G>A	noncoding	Benign
5	149820480	T	C	T149820480C	PPARGC1B	NM_133263.4(PPARGC1B):c.126T>C:p.Leu42=	coding	Benign
5	149820839	A	G	A149820839G	PPARGC1B	NM_133263.4(PPARGC1B):c.252+233A>G	noncoding	Benign
5	149820890	G	C	G149820890C	PPARGC1B	NM_133263.4(PPARGC1B):c.252+284G>C	noncoding	Benign
5	149826377	G	A	G149826377A	PPARGC1B	NM_133263.4(PPARGC1B):c.253-296G>A	noncoding	Benign
5	149826429	G	A	G149826429A	PPARGC1B	NM_133263.4(PPARGC1B):c.253-244G>A	noncoding	Benign
5	149826541	G	A	G149826541A	PPARGC1B	NM_133263.4(PPARGC1B):c.253-132G>A	noncoding	Benign
5	149826968	G	A	G149826968A	PPARGC1B	NM_133263.4(PPARGC1B):c.465+83G>A	noncoding	Benign
5	149832867	G	A	G149832867A	PPARGC1B	NM_133263.4(PPARGC1B):c.794G>A:p.Arg265Gln	coding	Benign
5	149832908	G	A	G149832908A	PPARGC1B	NM_133263.4(PPARGC1B):c.835G>A:p.Val279Ile	coding	Benign
5	149832947	C	A	C149832947A	PPARGC1B	NM_133263.4(PPARGC1B):c.874C>A:p.Arg292Ser	coding	Benign
5	149833237	G	A	G149833237A	PPARGC1B	NM_133263.4(PPARGC1B):c.1164G>A:p.Pro388=	coding	Benign
5	149833893	A	G	A149833893G	PPARGC1B	NM_133263.4(PPARGC1B):c.1705+115A>G	noncoding	Benign
5	149834604	C	T	C149834604T	PPARGC1B	NM_133263.4(PPARGC1B):c.1706-70C>T	noncoding	Benign
5	149834814	C	T	C149834814T	PPARGC1B	NM_133263.4(PPARGC1B):c.1742+104C>T	noncoding	Benign
5	149835024	G	A	G149835024A	PPARGC1B	NM_133263.4(PPARGC1B):c.1743-277G>A	noncoding	Benign
5	149835650	C	G	C149835650G	PPARGC1B	NM_133263.4(PPARGC1B):c.1807+285C>G	noncoding	Benign
5	149836693	C	T	C149836693T	PPARGC1B	NM_133263.4(PPARGC1B):c.2238C>T:p.Gly746=	coding	Benign
5	149836741	C	T	C149836741T	PPARGC1B	NM_133263.4(PPARGC1B):c.2286C>T:p.Ala762=	coding	Benign
5	149842139	T	C	T149842139C	PPARGC1B	NM_133263.4(PPARGC1B):c.2695-117T>C	noncoding	Benign
5	149842225	G	C	G149842225C	PPARGC1B	NM_133263.4(PPARGC1B):c.2695-31G>C	noncoding	Benign
5	149842429	C	T	C149842429T	PPARGC1B	NM_133263.4(PPARGC1B):c.2816+52C>T	noncoding	Benign
5	149842592	C	T	C149842592T	PPARGC1B	NM_133263.4(PPARGC1B):c.2816+215C>T	noncoding	Benign
5	149861008	A	T	A149861008T	PDE6A	NM_000440.3(PDE6A):c.2507-37T>A	noncoding	Benign
5	149863107	C	T	C149863107T	PDE6A	NM_000440.3(PDE6A):c.2506+12G>A	noncoding	Benign
5	149863199	C	T	C149863199T	PDE6A	NM_000440.3(PDE6A):c.2426G>A:p.Trp809Ter	coding	Pathogenic
5	149863387	C	T	C149863387T	PDE6A	NM_000440.3(PDE6A):c.2359-121G>A	noncoding	Benign
5	149866211	G	A	G149866211A	PDE6A	NM_000440.3(PDE6A):c.2317C>T:p.Gln773Ter	coding	Pathogenic
5	149867736	G	A	G149867736A	PDE6A	NM_000440.3(PDE6A):c.2263C>T:p.Gln755Ter	coding	Pathogenic
5	149868175	C	A	C149868175A	PDE6A	NM_000440.3(PDE6A):c.2136-17G>T	noncoding	Benign
5	149883428	C	A	C149883428A	PDE6A	NM_000440.3(PDE6A):c.2135+1G>T	noncoding	Pathogenic
5	149886264	C	T	C149886264T	PDE6A	NM_000440.3(PDE6A):c.1838+1G>A	noncoding	Pathogenic
5	149895187	A	G	A149895187G	PDE6A	NM_000440.3(PDE6A):c.1724T>C:p.Leu575Pro	coding	Pathogenic
5	149895227	G	A	G149895227A	PDE6A	NM_000440.3(PDE6A):c.1684C>T:p.Arg562Trp	coding	Pathogenic/Likely_pathogenic
5	149896561	T	C	T149896561C	PDE6A	NM_000440.3(PDE6A):c.1474-59A>G	noncoding	Benign
5	149896697	C	T	C149896697T	PDE6A	NM_000440.3(PDE6A):c.1473+14G>A	noncoding	Benign/Likely_benign
5	149896810	T	C	T149896810C	PDE6A	NM_000440.3(PDE6A):c.1408-34A>G	noncoding	Benign
5	149898345	G	C	G149898345C	PDE6A	NM_000440.3(PDE6A):c.1407+18C>G	noncoding	Benign
5	149898484	C	T	C149898484T	PDE6A	NM_000440.3(PDE6A):c.1286G>A:p.Trp429Ter	coding	Pathogenic
5	149899374	C	A	C149899374A	PDE6A	NM_000440.3(PDE6A):c.1263+1G>T	noncoding	Pathogenic/Likely_pathogenic
5	149899374	C	T	C149899374T	PDE6A	NM_000440.3(PDE6A):c.1263+1G>A	noncoding	Pathogenic
5	149899521	C	A	C149899521A	PDE6A	NM_000440.3(PDE6A):c.1117G>T:p.Glu373Ter	coding	Pathogenic
5	149903449	T	C	T149903449C	PDE6A	NM_000440.3(PDE6A):c.1113+199A>G	noncoding	Benign
5	149903462	T	A	T149903462A	PDE6A	NM_000440.3(PDE6A):c.1113+186A>T	noncoding	Benign
5	149903757	C	T	C149903757T	PDE6A	NM_000440.3(PDE6A):c.1066-62G>A	noncoding	Benign
5	149903843	C	T	C149903843T	PDE6A	NM_000440.3(PDE6A):c.1066-148G>A	noncoding	Benign
5	149921772	T	C	T149921772C	PDE6A	NM_000440.3(PDE6A):c.859-63A>G	noncoding	Benign
5	149931127	C	G	C149931127G	PDE6A	NM_000440.3(PDE6A):c.759G>C:p.Thr253=	coding	Benign
5	149931186	C	T	C149931186T	PDE6A	NM_000440.3(PDE6A):c.718-18G>A	noncoding	Benign
5	149934000	T	C	T149934000C	PDE6A	NM_000440.3(PDE6A):c.647A>G:p.Asn216Ser	coding	Benign/Likely_benign
5	149944369	C	T	C149944369T	PDE6A	NM_000440.3(PDE6A):c.305G>A:p.Arg102His	coding	Pathogenic
5	149944469	G	A	G149944469A	PDE6A	NM_000440.3(PDE6A):c.205C>T:p.Gln69Ter	coding	Pathogenic
5	149944715	G	A	G149944715A	PDE6A	NM_000440.3(PDE6A):c.-42C>T	noncoding	Benign/Likely_benign
5	149944813	A	T	A149944813T	PDE6A	Single_allele	noncoding	Benign
5	149977707	G	T	G149977707T	SLC26A2	NM_000112.4(SLC26A2):c.55G>T:p.Gly19Ter	coding	Pathogenic/Likely_pathogenic
5	149980707	A	T	A149980707T	SLC26A2	NM_000112.4(SLC26A2):c.1114A>T:p.Lys372Ter	coding	Pathogenic
5	149980750	C	T	C149980750T	SLC26A2	NM_000112.4(SLC26A2):c.1157C>T:p.Ala386Val	coding	Pathogenic
5	149980839	C	T	C149980839T	SLC26A2	NM_000112.4(SLC26A2):c.1246C>T:p.Gln416Ter	coding	Pathogenic
5	149981232	C	T	C149981232T	SLC26A2	NM_000112.4(SLC26A2):c.1639C>T:p.Gln547Ter	coding	Pathogenic
5	149981248	C	A	C149981248A	SLC26A2	NM_000112.4(SLC26A2):c.1655C>A:p.Ser552Ter	coding	Pathogenic/Likely_pathogenic
5	149981357	C	A	C149981357A	SLC26A2	NM_000112.4(SLC26A2):c.1764C>A:p.Tyr588Ter	coding	Pathogenic/Likely_pathogenic
5	149981896	T	G	T149981896G	SLC26A2	NM_000112.4(SLC26A2):c.*83T>G	noncoding	Benign/Likely_benign
5	150054182	C	T	C150054182T	CSF1R	NM_001288705.3(CSF1R):c.2806G>A:p.Gly936Ser	coding	Benign
5	150054294	C	G	C150054294G	CSF1R	NM_001288705.3(CSF1R):c.2763+28G>C	noncoding	Benign
5	150055121	T	G	T150055121G	CSF1R	NM_001288705.3(CSF1R):c.2654+116A>C	noncoding	Benign
5	150056041	C	T	C150056041T	CSF1R	NM_001288705.3(CSF1R):c.2539G>A:p.Glu847Lys	coding	Pathogenic
5	150056082	G	T	G150056082T	CSF1R	NM_001288705.3(CSF1R):c.2498C>A:p.Thr833Lys	coding	Pathogenic
5	150056196	G	A	G150056196A	CSF1R	NM_001288705.3(CSF1R):c.2442+23C>T	noncoding	Benign
5	150056225	C	T	C150056225T	CSF1R	NM_001288705.3(CSF1R):c.2436G>A:p.Lys812=	coding	Benign
5	150057123	T	G	T150057123G	CSF1R	NM_001288705.3(CSF1R):c.2319+164A>C	noncoding	Benign
5	150057348	C	T	C150057348T	CSF1R	NM_001288705.3(CSF1R):c.2258G>A:p.Arg753Gln	coding	Benign/Likely_benign
5	150057402	G	A	G150057402A	CSF1R	NM_001288705.3(CSF1R):c.2222-18C>T	noncoding	Benign
5	150057504	C	T	C150057504T	CSF1R	NM_001288705.3(CSF1R):c.2221G>A:p.Asp741Asn	coding	Pathogenic
5	150057559	G	A	G150057559A	CSF1R	NM_001288705.3(CSF1R):c.2166C>T:p.Thr722=	coding	Benign/Likely_benign
5	150057627	C	G	C150057627G	CSF1R	NM_001288705.3(CSF1R):c.2133-35G>C	noncoding	Benign
5	150057752	C	T	C150057752T	CSF1R	NM_001288705.3(CSF1R):c.2133-160G>A	noncoding	Benign
5	150059806	G	A	G150059806A	CSF1R	NM_001288705.3(CSF1R):c.2026C>T:p.Arg676Ter	coding	Pathogenic
5	150059895	T	G	T150059895G	CSF1R	NM_001288705.3(CSF1R):c.1970-33A>C	noncoding	Benign
5	150059931	C	A	C150059931A	CSF1R	NM_001288705.3(CSF1R):c.1970-69G>T	noncoding	Benign
5	150060025	T	C	T150060025C	CSF1R	NM_001288705.3(CSF1R):c.1970-163A>G	noncoding	Benign
5	150060551	C	T	C150060551T	CSF1R	NM_001288705.3(CSF1R):c.1969+311G>A	noncoding	Benign
5	150060598	G	A	G150060598A	CSF1R	NM_001288705.3(CSF1R):c.1969+264C>T	noncoding	Benign
5	150060680	G	A	G150060680A	CSF1R	NM_001288705.3(CSF1R):c.1969+182C>T	noncoding	Benign
5	150060771	G	A	G150060771A	CSF1R	NM_001288705.3(CSF1R):c.1969+91C>T	noncoding	Benign
5	150060893	G	A	G150060893A	CSF1R	NM_001288705.3(CSF1R):c.1938C>T:p.Ile646=	coding	Benign
5	150060959	A	C	A150060959C	CSF1R	NM_001288705.3(CSF1R):c.1872T>G:p.Ala624=	coding	Benign
5	150061081	C	T	C150061081T	CSF1R	NM_001288705.3(CSF1R):c.1859-109G>A	noncoding	Benign
5	150061160	G	A	G150061160A	CSF1R	NM_001288705.3(CSF1R):c.1859-188C>T	noncoding	Benign
5	150061176	A	G	A150061176G	CSF1R	NM_001288705.3(CSF1R):c.1859-204T>C	noncoding	Benign
5	150061214	G	A	G150061214A	CSF1R	NM_001288705.3(CSF1R):c.1859-242C>T	noncoding	Benign
5	150061288	T	C	T150061288C	CSF1R	NM_001288705.3(CSF1R):c.1858+203A>G	noncoding	Benign
5	150061608	C	T	C150061608T	CSF1R	NM_001288705.3(CSF1R):c.1754-13G>A	noncoding	Benign
5	150068065	A	G	A150068065G	CSF1R	NM_001288705.3(CSF1R):c.1626+150T>C	noncoding	Benign
5	150068202	C	T	C150068202T	CSF1R	NM_001288705.3(CSF1R):c.1626+13G>A	noncoding	Benign
5	150068221	A	T	A150068221T	CSF1R	NM_001288705.3(CSF1R):c.1620T>A:p.Tyr540Ter	coding	Pathogenic
5	150068497	G	A	G150068497A	CSF1R	NM_001288705.3(CSF1R):c.1511-167C>T	noncoding	Benign
5	150069857	G	A	G150069857A	CSF1R	NM_001288705.3(CSF1R):c.1510+16C>T	noncoding	Benign
5	150070440	C	A	C150070440A	CSF1R	NM_001288705.3(CSF1R):c.1198+16G>T	noncoding	Benign
5	150070440	C	T	C150070440T	CSF1R	NM_001288705.3(CSF1R):c.1198+16G>A	noncoding	Benign
5	150070695	G	A	G150070695A	CSF1R	NM_001288705.3(CSF1R):c.1083-124C>T	noncoding	Benign
5	150073230	C	T	C150073230T	CSF1R	NM_001288705.3(CSF1R):c.1082+71G>A	noncoding	Benign
5	150073281	C	T	C150073281T	CSF1R	NM_001288705.3(CSF1R):c.1082+20G>A	noncoding	Benign
5	150073441	G	A	G150073441A	CSF1R	NM_001288705.3(CSF1R):c.942C>T:p.Thr314=	coding	Benign
5	150077208	C	A	C150077208A	CSF1R	NM_001288705.3(CSF1R):c.889+68G>T	noncoding	Benign
5	150077209	T	A	T150077209A	CSF1R	NM_001288705.3(CSF1R):c.889+67A>T	noncoding	Benign
5	150077248	G	A	G150077248A	CSF1R	NM_001288705.3(CSF1R):c.889+28C>T	noncoding	Benign
5	150077930	A	G	A150077930G	CSF1R	NM_001288705.3(CSF1R):c.729+182T>C	noncoding	Benign
5	150078267	C	T	C150078267T	CSF1R	NM_001288705.3(CSF1R):c.593-19G>A	noncoding	Benign
5	150079998	G	C	G150079998C	CSF1R	NM_001288705.3(CSF1R):c.592+54C>G	noncoding	Benign
5	150080011	C	T	C150080011T	CSF1R	NM_001288705.3(CSF1R):c.592+41G>A	noncoding	Benign
5	150080269	C	T	C150080269T	CSF1R	NM_001288705.3(CSF1R):c.375G>A:p.Leu125=	coding	Benign
5	150080613	G	A	G150080613A	CSF1R	NM_001288705.3(CSF1R):c.307+154C>T	noncoding	Benign
5	150080981	G	A	G150080981A	CSF1R	NM_001288705.3(CSF1R):c.93C>T:p.Val31=	coding	Benign
5	150081238	C	T	C150081238T	CSF1R	NM_001288705.3(CSF1R):c.50-214G>A	noncoding	Benign
5	150086328	T	C	T150086328C	CSF1R	NM_001288705.3(CSF1R):c.49+51A>G	noncoding	Benign
5	150086726	T	C	T150086726C	CSF1R	NM_005211.4(CSF1R):c.-180-119A>G	noncoding	Benign
5	150086752	C	G	C150086752G	CSF1R	NM_005211.4(CSF1R):c.-180-145G>C	noncoding	Benign
5	150115690	T	C	T150115690C	PDGFRB	NM_002609.4(PDGFRB):c.*73A>G	noncoding	Benign
5	150115724	G	C	G150115724C	PDGFRB	NM_002609.4(PDGFRB):c.*39C>G	noncoding	Benign
5	150115724	G	T	G150115724T	PDGFRB	NM_002609.4(PDGFRB):c.*39C>A	noncoding	Benign
5	150115808	C	T	C150115808T	PDGFRB	NM_002609.4(PDGFRB):c.3276G>A:p.Ser1092=	coding	Benign
5	150115974	G	A	G150115974A	PDGFRB	NM_002609.4(PDGFRB):c.3138-28C>T	noncoding	Benign
5	150116043	G	A	G150116043A	PDGFRB	NM_002609.4(PDGFRB):c.3138-97C>T	noncoding	Benign
5	150116207	G	A	G150116207A	PDGFRB	NM_002609.4(PDGFRB):c.3138-261C>T	noncoding	Benign
5	150117392	C	T	C150117392T	PDGFRB	NM_002609.4(PDGFRB):c.3137+226G>A	noncoding	Benign
5	150117531	C	T	C150117531T	PDGFRB	NM_002609.4(PDGFRB):c.3137+87G>A	noncoding	Benign
5	150117537	C	G	C150117537G	PDGFRB	NM_002609.4(PDGFRB):c.3137+81G>C	noncoding	Benign
5	150117544	G	A	G150117544A	PDGFRB	NM_002609.4(PDGFRB):c.3137+74C>T	noncoding	Benign
5	150117550	A	G	A150117550G	PDGFRB	NM_002609.4(PDGFRB):c.3137+68T>C	noncoding	Benign
5	150117570	A	G	A150117570G	PDGFRB	NM_002609.4(PDGFRB):c.3137+48T>C	noncoding	Benign
5	150117653	G	A	G150117653A	PDGFRB	NM_002609.4(PDGFRB):c.3102C>T:p.Asp1034=	coding	Benign
5	150117725	A	C	A150117725C	PDGFRB	NM_002609.4(PDGFRB):c.3030T>G:p.Thr1010=	coding	Benign
5	150117795	C	T	C150117795T	PDGFRB	NM_002609.4(PDGFRB):c.2960G>A:p.Arg987Gln	coding	Benign/Likely_benign
5	150118109	C	T	C150118109T	PDGFRB	NM_002609.4(PDGFRB):c.2905-259G>A	noncoding	Benign
5	150118501	C	G	C150118501G	PDGFRB	NM_002609.4(PDGFRB):c.2904+246G>C	noncoding	Benign
5	150118588	G	A	G150118588A	PDGFRB	NM_002609.4(PDGFRB):c.2904+159C>T	noncoding	Benign
5	150119196	A	T	A150119196T	PDGFRB	NM_002609.4(PDGFRB):c.2798+271T>A	noncoding	Benign
5	150119258	C	T	C150119258T	PDGFRB	NM_002609.4(PDGFRB):c.2798+209G>A	noncoding	Benign
5	150120128	A	G	A150120128G	PDGFRB	NM_002609.4(PDGFRB):c.2587-5T>C	noncoding	Benign
5	150120233	G	A	G150120233A	PDGFRB	NM_002609.4(PDGFRB):c.2587-110C>T	noncoding	Benign
5	150120673	C	T	C150120673T	PDGFRB	NM_002609.4(PDGFRB):c.2586+215G>A	noncoding	Benign
5	150121759	A	G	A150121759G	PDGFRB	NM_002609.4(PDGFRB):c.2344+121T>C	noncoding	Benign
5	150122188	A	C	A150122188C	PDGFRB	NM_002609.4(PDGFRB):c.2184-148T>G	noncoding	Benign
5	150122240	C	T	C150122240T	PDGFRB	NM_002609.4(PDGFRB):c.2184-200G>A	noncoding	Benign
5	150123172	G	A	G150123172A	PDGFRB	NM_002609.4(PDGFRB):c.2053C>T:p.Arg685Cys	coding	Benign
5	150123496	C	T	C150123496T	PDGFRB	NM_002609.4(PDGFRB):c.2024-295G>A	noncoding	Benign
5	150124107	G	A	G150124107A	PDGFRB	NM_002609.4(PDGFRB):c.2023+143C>T	noncoding	Benign
5	150124276	T	C	T150124276C	PDGFRB	NM_002609.4(PDGFRB):c.1997A>G:p.Asn666Ser	coding	Pathogenic
5	150124552	A	T	A150124552T	PDGFRB	NM_002609.4(PDGFRB):c.1912+175T>A	noncoding	Benign
5	150124595	T	C	T150124595C	PDGFRB	NM_002609.4(PDGFRB):c.1912+132A>G	noncoding	Benign
5	150125048	T	G	T150125048G	PDGFRB	NM_002609.4(PDGFRB):c.1808-217A>C	noncoding	Benign
5	150125259	T	C	T150125259C	PDGFRB	NM_002609.4(PDGFRB):c.1807+186A>G	noncoding	Benign
5	150125743	G	A	G150125743A	PDGFRB	NM_002609.4(PDGFRB):c.1675-166C>T	noncoding	Benign
5	150125764	A	G	A150125764G	PDGFRB	NM_002609.4(PDGFRB):c.1675-187T>C	noncoding	Benign
5	150129548	C	T	C150129548T	PDGFRB	NM_002609.4(PDGFRB):c.1579+209G>A	noncoding	Benign
5	150129707	A	G	A150129707G	PDGFRB	NM_002609.4(PDGFRB):c.1579+50T>C	noncoding	Benign
5	150129727	C	A	C150129727A	PDGFRB	NM_002609.4(PDGFRB):c.1579+30G>T	noncoding	Benign
5	150129816	C	T	C150129816T	PDGFRB	NM_002609.4(PDGFRB):c.1520G>A:p.Arg507His	coding	Benign
5	150129983	G	A	G150129983A	PDGFRB	NM_002609.4(PDGFRB):c.1368-15C>T	noncoding	Benign
5	150130157	T	C	T150130157C	PDGFRB	NM_002609.4(PDGFRB):c.1368-189A>G	noncoding	Benign
5	150130330	C	A	C150130330A	PDGFRB	NM_002609.4(PDGFRB):c.1367+209G>T	noncoding	Benign
5	150130627	G	A	G150130627A	PDGFRB	NM_002609.4(PDGFRB):c.1279C>T:p.Pro427Ser	coding	Benign/Likely_benign
5	150132229	G	A	G150132229A	PDGFRB	NM_002609.4(PDGFRB):c.1128-135C>T	noncoding	Benign
5	150132479	G	A	G150132479A	PDGFRB	NM_002609.4(PDGFRB):c.1127+271C>T	noncoding	Benign
5	150132794	G	A	G150132794A	PDGFRB	NM_002609.4(PDGFRB):c.1083C>T:p.Ser361=	coding	Benign
5	150133043	G	A	G150133043A	PDGFRB	NM_002609.4(PDGFRB):c.935-101C>T	noncoding	Benign
5	150133115	T	C	T150133115C	PDGFRB	NM_002609.4(PDGFRB):c.935-173A>G	noncoding	Benign
5	150133218	G	A	G150133218A	PDGFRB	NM_002609.4(PDGFRB):c.935-276C>T	noncoding	Benign
5	150133509	A	G	A150133509G	PDGFRB	NM_002609.4(PDGFRB):c.934+77T>C	noncoding	Benign
5	150133840	T	C	T150133840C	PDGFRB	NM_002609.4(PDGFRB):c.759+41A>G	noncoding	Benign
5	150134063	T	G	T150134063G	PDGFRB	NM_002609.4(PDGFRB):c.632-55A>C	noncoding	Benign
5	150134800	A	G	A150134800G	PDGFRB	NM_002609.4(PDGFRB):c.581T>C:p.Ile194Thr	coding	Benign/Likely_benign
5	150134895	C	T	C150134895T	PDGFRB	NM_002609.4(PDGFRB):c.486G>A:p.Glu162=	coding	Benign
5	150135395	T	G	T150135395G	PDGFRB	NM_002609.4(PDGFRB):c.364+160A>C	noncoding	Benign
5	150135511	G	A	G150135511A	PDGFRB	NM_002609.4(PDGFRB):c.364+44C>T	noncoding	Benign
5	150136794	G	A	G150136794A	PDGFRB	NM_002609.4(PDGFRB):c.40+214C>T	noncoding	Benign
5	150136917	C	T	C150136917T	PDGFRB	NM_002609.4(PDGFRB):c.40+91G>A	noncoding	Benign
5	150137160	C	A	C150137160A	PDGFRB	NM_002609.4(PDGFRB):c.-6-107G>T	noncoding	Benign
5	150137211	G	A	G150137211A	PDGFRB	NM_002609.4(PDGFRB):c.-6-158C>T	noncoding	Benign
5	150222717	T	C	T150222717C	CAMK2A	NM_015981.4(CAMK2A):c.1467-4A>G	noncoding	Benign
5	150222800	T	A	T150222800A	CAMK2A	NM_015981.4(CAMK2A):c.1467-87A>T	noncoding	Benign
5	150223045	A	G	A150223045G	CAMK2A	NM_015981.4(CAMK2A):c.1410T>C:p.Asp470=	coding	Benign
5	150223261	C	T	C150223261T	CAMK2A	NM_015981.4(CAMK2A):c.1238-44G>A	noncoding	Benign
5	150247814	C	T	C150247814T	CAMK2A	NM_015981.4(CAMK2A):c.901G>A:p.Gly301Arg	coding	Pathogenic
5	150251850	A	G	A150251850G	CAMK2A	NM_015981.4(CAMK2A):c.599-6T>C	noncoding	Benign
5	150265034	T	G	T150265034G	CAMK2A	NM_015981.4(CAMK2A):c.158-19A>C	noncoding	Benign
5	150298288	A	G	A150298288G	ARSI	NM_001012301.4(ARSI):c.636T>C:p.Tyr212=	coding	Benign
5	150357401	C	T	C150357401T	TCOF1	Single_allele	noncoding	Benign
5	150357658	T	G	T150357658G	TCOF1	NM_001135243.1(TCOF1):c.-89T>G	noncoding	Benign
5	150361143	T	C	T150361143C	TCOF1	NM_001371623.1(TCOF1):c.109-13T>C	noncoding	Benign
5	150361210	C	T	C150361210T	TCOF1	NM_001371623.1(TCOF1):c.163C>T:p.Gln55Ter	coding	Pathogenic
5	150364413	C	T	C150364413T	TCOF1	NM_001371623.1(TCOF1):c.304+161C>T	noncoding	Benign
5	150364454	C	T	C150364454T	TCOF1	NM_001371623.1(TCOF1):c.304+202C>T	noncoding	Benign
5	150367933	T	C	T150367933C	TCOF1	NM_001371623.1(TCOF1):c.378+16T>C	noncoding	Benign
5	150368860	G	T	G150368860T	TCOF1	NM_001371623.1(TCOF1):c.523G>T:p.Glu175Ter	coding	Pathogenic
5	150369634	C	T	C150369634T	TCOF1	NM_001371623.1(TCOF1):c.639+32C>T	noncoding	Benign
5	150369846	C	T	C150369846T	TCOF1	NM_001371623.1(TCOF1):c.639+244C>T	noncoding	Benign
5	150371783	G	A	G150371783A	TCOF1	NM_001371623.1(TCOF1):c.640-223G>A	noncoding	Benign
5	150372232	G	A	G150372232A	TCOF1	NM_001371623.1(TCOF1):c.866G>A:p.Ser289Asn	coding	Benign/Likely_benign
5	150374264	G	A	G150374264A	TCOF1	NM_001371623.1(TCOF1):c.961G>A:p.Gly321Arg	coding	Benign/Likely_benign
5	150374825	G	A	G150374825A	TCOF1	NM_001371623.1(TCOF1):c.1278+14G>A	noncoding	Benign
5	150374974	C	A	C150374974A	TCOF1	NM_001371623.1(TCOF1):c.1299C>A:p.Ala433=	coding	Benign
5	150375065	G	A	G150375065A	TCOF1	NM_001371623.1(TCOF1):c.1390G>A:p.Ala464Thr	coding	Benign/Likely_benign
5	150375179	G	A	G150375179A	TCOF1	NM_001371623.1(TCOF1):c.1488+16G>A	noncoding	Benign
5	150375257	G	A	G150375257A	TCOF1	NM_001371623.1(TCOF1):c.1489-82G>A	noncoding	Benign
5	150375352	G	A	G150375352A	TCOF1	NM_001371623.1(TCOF1):c.1502G>A:p.Gly501Glu	coding	Benign
5	150375385	T	C	T150375385C	TCOF1	NM_001371623.1(TCOF1):c.1535T>C:p.Met512Thr	coding	Benign/Likely_benign
5	150375397	C	T	C150375397T	TCOF1	NM_001371623.1(TCOF1):c.1547C>T:p.Pro516Leu	coding	Benign
5	150375472	G	A	G150375472A	TCOF1	NM_001371623.1(TCOF1):c.1622G>A:p.Trp541Ter	coding	Pathogenic
5	150375739	A	G	A150375739G	TCOF1	NM_001371623.1(TCOF1):c.1723A>G:p.Ile575Val	coding	Benign/Likely_benign
5	150375883	G	A	G150375883A	TCOF1	NM_001371623.1(TCOF1):c.1867G>A:p.Ala623Thr	coding	Benign
5	150376188	G	A	G150376188A	TCOF1	NM_001371623.1(TCOF1):c.2000G>A:p.Arg667Gln	coding	Benign/Likely_benign
5	150376537	C	T	C150376537T	TCOF1	NM_001371623.1(TCOF1):c.2257C>T:p.Gln753Ter	coding	Pathogenic
5	150376612	C	T	C150376612T	TCOF1	NM_001371623.1(TCOF1):c.2332C>T:p.Pro778Ser	coding	Benign/Likely_benign
5	150376914	G	C	G150376914C	TCOF1	NM_001371623.1(TCOF1):c.2340+294G>C	noncoding	Benign
5	150378959	G	T	G150378959T	TCOF1	NM_001371623.1(TCOF1):c.2395G>T:p.Ala799Ser	coding	Benign/Likely_benign
5	150379604	G	T	G150379604T	TCOF1	NM_001371623.1(TCOF1):c.2731G>T:p.Ala911Ser	coding	Benign
5	150379781	G	A	G150379781A	TCOF1	NM_001371623.1(TCOF1):c.2859+49G>A	noncoding	Benign
5	150383435	G	A	G150383435A	TCOF1	NM_001371623.1(TCOF1):c.2859+3703G>A	noncoding	Benign
5	150383699	G	T	G150383699T	TCOF1	NM_001371623.1(TCOF1):c.2859+3967G>T	noncoding	Benign
5	150383742	A	G	A150383742G	TCOF1	NM_001371623.1(TCOF1):c.2859+4010A>G	coding	Benign
5	150389867	C	T	C150389867T	TCOF1	NM_001371623.1(TCOF1):c.3047-20C>T	noncoding	Benign
5	150389886	G	A	G150389886A	TCOF1	NM_001371623.1(TCOF1):c.3047-1G>A	noncoding	Pathogenic
5	150390091	A	G	A150390091G	TCOF1	NM_001371623.1(TCOF1):c.3183+68A>G	noncoding	Benign
5	150390125	G	C	G150390125C	TCOF1	NM_001371623.1(TCOF1):c.3183+102G>C	noncoding	Benign
5	150391551	A	G	A150391551G	TCOF1	NM_001371623.1(TCOF1):c.3191A>G:p.Lys1064Arg	coding	Benign
5	150391601	G	A	G150391601A	TCOF1	NM_001371623.1(TCOF1):c.3241G>A:p.Ala1081Thr	coding	Benign/Likely_benign
5	150391723	C	T	C150391723T	TCOF1	NM_001371623.1(TCOF1):c.3297+66C>T	noncoding	Benign
5	150391994	C	T	C150391994T	TCOF1	NM_001371623.1(TCOF1):c.3335C>T:p.Pro1112Leu	coding	Benign
5	150392097	T	G	T150392097G	TCOF1	NM_001371623.1(TCOF1):c.3438T>G:p.Ser1146Arg	coding	Benign
5	150392152	G	C	G150392152C	TCOF1	NM_001371623.1(TCOF1):c.3493G>C:p.Gly1165Arg	coding	Benign/Likely_benign
5	150392674	G	A	G150392674A	TCOF1	NM_001371623.1(TCOF1):c.3518-31G>A	noncoding	Benign
5	150392702	C	T	C150392702T	TCOF1	NM_001371623.1(TCOF1):c.3518-3C>T	noncoding	Benign
5	150392724	G	A	G150392724A	TCOF1	NM_001371623.1(TCOF1):c.3537G>A:p.Arg1179=	coding	Benign
5	150392725	A	T	A150392725T	TCOF1	NM_001371623.1(TCOF1):c.3538A>T:p.Thr1180Ser	coding	Benign/Likely_benign
5	150393358	A	G	A150393358G	TCOF1	NM_001371623.1(TCOF1):c.3604-14A>G	noncoding	Benign/Likely_benign
5	150393396	C	T	C150393396T	TCOF1	NM_001371623.1(TCOF1):c.3628C>T:p.Pro1210Ser	coding	Benign
5	150396520	G	A	G150396520A	TCOF1	NM_001371623.1(TCOF1):c.4023G>A:p.Lys1341=	coding	Benign/Likely_benign
5	150396638	G	T	G150396638T	TCOF1	NM_001371623.1(TCOF1):c.4141G>T:p.Glu1381Ter	coding	Pathogenic
5	150396844	T	C	T150396844C	TCOF1	NM_001371623.1(TCOF1):c.4345+2T>C	noncoding	Pathogenic
5	150396853	G	A	G150396853A	TCOF1	NM_001371623.1(TCOF1):c.4345+11G>A	noncoding	Benign
5	150397065	A	C	A150397065C	TCOF1	NM_001371623.1(TCOF1):c.4345+223A>C	noncoding	Benign
5	150398215	C	T	C150398215T	TCOF1	NM_001371623.1(TCOF1):c.4346-139C>T	noncoding	Benign
5	150398337	T	A	T150398337A	TCOF1	NM_001371623.1(TCOF1):c.4346-17T>A	noncoding	Benign
5	150398396	A	G	A150398396G	TCOF1	NM_001371623.1(TCOF1):c.4388A>G:p.Lys1463Arg	coding	Benign/Likely_benign
5	150398801	G	C	G150398801C	TCOF1	NM_001371623.1(TCOF1):c.4444-221G>C	noncoding	Benign
5	150398890	C	A	C150398890A	TCOF1	NM_001371623.1(TCOF1):c.4444-132C>A	noncoding	Benign
5	150399049	C	T	C150399049T	TCOF1	NM_001371623.1(TCOF1):c.*1C>T	coding	Benign
5	150399096	A	G	A150399096G	TCOF1	NM_001371623.1(TCOF1):c.*22+26A>G	noncoding	Benign
5	150521240	G	T	G150521240T	NDST1	NM_001543.5(NDST1):c.-15G>T	noncoding	Benign
5	150527789	C	G	C150527789G	NDST1	NM_001543.5(NDST1):c.514-15C>G	noncoding	Benign
5	150527971	T	G	T150527971G	NDST1	NM_001543.5(NDST1):c.681T>G:p.Val227=	coding	Benign
5	150528040	A	G	A150528040G	NDST1	NM_001543.5(NDST1):c.750A>G:p.Pro250=	coding	Benign
5	150528079	C	T	C150528079T	NDST1	NM_001543.5(NDST1):c.789C>T:p.His263=	coding	Benign
5	150532965	C	T	C150532965T	NDST1	NM_001543.5(NDST1):c.1029C>T:p.Asn343=	coding	Benign
5	150533052	C	T	C150533052T	NDST1	NM_001543.5(NDST1):c.1096+20C>T	noncoding	Benign
5	150534839	T	C	T150534839C	NDST1	NM_001543.5(NDST1):c.1097-28T>C	noncoding	Benign
5	150540177	G	C	G150540177C	NDST1	NM_001543.5(NDST1):c.1662G>C:p.Thr554=	coding	Benign
5	150541651	G	A	G150541651A	NDST1	NM_001543.5(NDST1):c.1831G>A:p.Gly611Ser	coding	Pathogenic/Likely_pathogenic
5	150541689	G	C	G150541689C	NDST1	NM_001543.5(NDST1):c.1846+23G>C	noncoding	Benign
5	150549661	C	T	C150549661T	NDST1	NM_001543.5(NDST1):c.2317-17C>T	noncoding	Benign
5	150617912	G	A	G150617912A	SYNPO	NM_001166208.2(SYNPO):c.-265-191G>A	noncoding	Benign
5	150617974	T	C	T150617974C	SYNPO	NM_001166208.2(SYNPO):c.-265-129T>C	noncoding	Benign
5	150618097	C	A	C150618097A	SYNPO	NM_001166208.2(SYNPO):c.-265-6C>A	noncoding	Benign
5	150618349	G	A	G150618349A	SYNPO	NM_001166208.2(SYNPO):c.-19G>A	noncoding	Benign
5	150618566	G	A	G150618566A	SYNPO	NM_001166208.2(SYNPO):c.199G>A:p.Asp67Asn	coding	Benign
5	150650398	T	C	T150650398C	SYNPO	NM_007286.6(SYNPO):c.2028+95T>C	coding	Benign
5	150650496	C	T	C150650496T	SYNPO	NM_007286.6(SYNPO):c.2028+193C>T	coding	Benign
5	150656208	A	G	A150656208G	SYNPO	NM_007286.6(SYNPO):c.2029-196A>G	noncoding	Benign
5	150656557	A	G	A150656557G	SYNPO	NM_007286.6(SYNPO):c.2182A>G:p.Met728Val	coding	Benign
5	150656727	C	T	C150656727T	SYNPO	NM_007286.6(SYNPO):c.2352C>T:p.Ser784=	coding	Benign
5	150656742	A	C	A150656742C	SYNPO	NM_007286.6(SYNPO):c.2367A>C:p.Pro789=	coding	Benign/Likely_benign
5	150656835	C	T	C150656835T	SYNPO	NM_007286.6(SYNPO):c.2460C>T:p.Phe820=	coding	Benign
5	150848436	C	T	C150848436T	IRGM	NM_001145805.2(IRGM):c.313C>T:p.Leu105=	coding	Benign
5	151056942	G	C	G151056942C	TNIP1	NM_006058.5(TNIP1):c.451C>G:p.Pro151Ala	coding	Benign
5	151252773	C	T	C151252773T	GM2A	Single_allele	noncoding	Benign
5	151253547	C	A	C151253547A	GM2A	NM_000405.5(GM2A):c.81+250C>A	noncoding	Benign
5	151259601	C	G	C151259601G	GM2A	NM_000405.5(GM2A):c.82-154C>G	noncoding	Benign
5	151259663	T	A	T151259663A	GM2A	NM_000405.5(GM2A):c.82-92T>A	noncoding	Benign
5	151260060	C	G	C151260060G	GM2A	NM_000405.5(GM2A):c.243+144C>G	noncoding	Benign
5	151260217	G	A	G151260217A	GM2A	NM_000405.5(GM2A):c.243+301G>A	noncoding	Benign
5	151267086	T	C	T151267086C	GM2A	NM_000405.5(GM2A):c.426+173T>C	noncoding	Benign
5	151267175	C	T	C151267175T	GM2A	NM_000405.5(GM2A):c.427-121C>T	noncoding	Benign
5	151267219	A	C	A151267219C	GM2A	NM_000405.5(GM2A):c.427-77A>C	noncoding	Benign
5	151316610	T	C	T151316610C	SLC36A2	NM_181776.3(SLC36A2):c.*207A>G	noncoding	Benign
5	151316886	C	T	C151316886T	SLC36A2	NM_181776.3(SLC36A2):c.1383G>A:p.Gln461=	coding	Benign
5	151316935	G	A	G151316935A	SLC36A2	NM_181776.3(SLC36A2):c.1334C>T:p.Ala445Val	coding	Benign
5	151316937	G	A	G151316937A	SLC36A2	NM_181776.3(SLC36A2):c.1332C>T:p.Asp444=	coding	Benign
5	151316979	C	T	C151316979T	SLC36A2	NM_181776.3(SLC36A2):c.1290G>A:p.Thr430=	coding	Benign
5	151322010	G	A	G151322010A	SLC36A2	NM_181776.3(SLC36A2):c.1180+36C>T	noncoding	Benign
5	151322259	C	G	C151322259G	SLC36A2	NM_181776.3(SLC36A2):c.1011-44G>C	noncoding	Benign
5	151325163	T	C	T151325163C	SLC36A2	NM_181776.3(SLC36A2):c.1010+123A>G	noncoding	Benign
5	151325197	A	G	A151325197G	SLC36A2	NM_181776.3(SLC36A2):c.1010+89T>C	noncoding	Benign
5	151333349	C	T	C151333349T	SLC36A2	NM_181776.3(SLC36A2):c.745-27G>A	noncoding	Benign
5	151333514	G	A	G151333514A	SLC36A2	NM_181776.3(SLC36A2):c.745-192C>T	noncoding	Benign
5	151335542	C	T	C151335542T	SLC36A2	NM_181776.3(SLC36A2):c.531G>A:p.Val177=	coding	Benign
5	151335643	G	A	G151335643A	SLC36A2	NM_181776.3(SLC36A2):c.526-96C>T	noncoding	Benign
5	151338901	T	G	T151338901G	SLC36A2	NM_181776.3(SLC36A2):c.525+159A>C	noncoding	Benign
5	151339313	C	A	C151339313A	SLC36A2	NM_181776.3(SLC36A2):c.441-169G>T	noncoding	Benign
5	151343114	G	A	G151343114A	SLC36A2	NM_181776.3(SLC36A2):c.345-131C>T	noncoding	Benign
5	151343174	C	T	C151343174T	SLC36A2	NM_181776.3(SLC36A2):c.345-191G>A	noncoding	Benign
5	151343989	T	A	T151343989A	SLC36A2	NM_181776.3(SLC36A2):c.255+188A>T	noncoding	Benign
5	151344186	C	T	C151344186T	SLC36A2	NM_181776.3(SLC36A2):c.246G>A:p.Ala82=	coding	Benign
5	151344245	G	A	G151344245A	SLC36A2	NM_181776.3(SLC36A2):c.187C>T:p.Leu63=	coding	Benign
5	151347296	C	T	C151347296T	SLC36A2	NM_181776.3(SLC36A2):c.164+1G>A	noncoding	Pathogenic
5	151347308	G	A	G151347308A	SLC36A2	NM_181776.3(SLC36A2):c.153C>T:p.Thr51=	coding	Benign
5	151506227	G	T	G151506227T	FAT2	NM_001447.3(FAT2):c.12518-130C>A	noncoding	Benign
5	151507055	G	A	G151507055A	FAT2	NM_001447.3(FAT2):c.12517+99C>T	noncoding	Benign
5	151507164	G	A	G151507164A	FAT2	NM_001447.3(FAT2):c.12507C>T:p.Ser4169=	coding	Benign
5	151507321	G	A	G151507321A	FAT2	NM_001447.3(FAT2):c.12350C>T:p.Pro4117Leu	coding	Benign
5	151507639	A	G	A151507639G	FAT2	NM_001447.3(FAT2):c.12060-28T>C	noncoding	Benign
5	151507723	G	A	G151507723A	FAT2	NM_001447.3(FAT2):c.12060-112C>T	noncoding	Benign
5	151510244	A	T	A151510244T	FAT2	NM_001447.3(FAT2):c.11906-70T>A	noncoding	Benign
5	151511983	A	G	A151511983G	FAT2	NM_001447.3(FAT2):c.11905+182T>C	noncoding	Benign
5	151512102	T	C	T151512102C	FAT2	NM_001447.3(FAT2):c.11905+63A>G	noncoding	Benign
5	151512172	A	G	A151512172G	FAT2	NM_001447.3(FAT2):c.11898T>C:p.His3966=	coding	Benign
5	151521226	G	A	G151521226A	FAT2	NM_001447.3(FAT2):c.11317+50C>T	noncoding	Benign
5	151521550	A	G	A151521550G	FAT2	NM_001447.3(FAT2):c.11043T>C:p.Asp3681=	coding	Benign
5	151521700	C	T	C151521700T	FAT2	NM_001447.3(FAT2):c.10893G>A:p.Met3631Ile	coding	Benign
5	151521739	G	A	G151521739A	FAT2	NM_001447.3(FAT2):c.10854C>T:p.Tyr3618=	coding	Benign
5	151522036	G	C	G151522036C	FAT2	NM_001447.3(FAT2):c.10557C>G:p.Val3519=	coding	Benign
5	151522052	A	G	A151522052G	FAT2	NM_001447.3(FAT2):c.10541T>C:p.Leu3514Ser	coding	Benign
5	151522069	G	T	G151522069T	FAT2	NM_001447.3(FAT2):c.10524C>A:p.Ile3508=	coding	Benign
5	151522138	C	T	C151522138T	FAT2	NM_001447.3(FAT2):c.10507-52G>A	coding	Benign
5	151525716	A	C	A151525716C	FAT2	NM_001447.3(FAT2):c.10506+52T>G	noncoding	Benign
5	151525837	C	T	C151525837T	FAT2	NM_001447.3(FAT2):c.10437G>A:p.Pro3479=	coding	Benign
5	151525924	C	T	C151525924T	FAT2	NM_001447.3(FAT2):c.10350G>A:p.Leu3450=	coding	Benign
5	151527028	G	A	G151527028A	FAT2	NM_001447.3(FAT2):c.10308+206C>T	noncoding	Benign
5	151527160	A	G	A151527160G	FAT2	NM_001447.3(FAT2):c.10308+74T>C	noncoding	Benign
5	151527402	T	G	T151527402G	FAT2	NM_001447.3(FAT2):c.10165-25A>C	noncoding	Benign
5	151528180	C	T	C151528180T	FAT2	NM_001447.3(FAT2):c.10027-47G>A	noncoding	Benign
5	151528258	T	C	T151528258C	FAT2	NM_001447.3(FAT2):c.10027-125A>G	noncoding	Benign
5	151529098	T	C	T151529098C	FAT2	NM_001447.3(FAT2):c.10026+80A>G	noncoding	Benign
5	151529251	C	T	C151529251T	FAT2	NM_001447.3(FAT2):c.9953G>A:p.Arg3318Gln	coding	Benign
5	151529252	G	A	G151529252A	FAT2	NM_001447.3(FAT2):c.9952C>T:p.Arg3318Trp	coding	Benign
5	151531363	G	T	G151531363T	FAT2	NM_001447.3(FAT2):c.9811+224C>A	noncoding	Benign
5	151531381	T	C	T151531381C	FAT2	NM_001447.3(FAT2):c.9811+206A>G	noncoding	Benign
5	151534623	A	T	A151534623T	FAT2	NM_001447.3(FAT2):c.9213T>A:p.Thr3071=	coding	Benign
5	151534708	A	G	A151534708G	FAT2	NM_001447.3(FAT2):c.9194-66T>C	noncoding	Benign
5	151534883	T	C	T151534883C	FAT2	NM_001447.3(FAT2):c.9194-241A>G	noncoding	Benign
5	151537578	T	C	T151537578C	FAT2	NM_001447.3(FAT2):c.9193+215A>G	noncoding	Benign
5	151537984	G	A	G151537984A	FAT2	NM_001447.3(FAT2):c.9040-38C>T	noncoding	Benign
5	151540547	A	G	A151540547G	FAT2	NM_001447.3(FAT2):c.9039+20T>C	noncoding	Benign
5	151540630	C	G	C151540630G	SLC36A1;FAT2	NM_001447.3(FAT2):c.8976G>C:p.Gln2992His	coding	Benign
5	151542244	G	A	G151542244A	FAT2	NM_001447.3(FAT2):c.8842+41C>T	noncoding	Benign
5	151543844	A	G	A151543844G	FAT2	NM_001447.3(FAT2):c.7283T>C:p.Phe2428Ser	coding	Benign
5	151545208	G	A	G151545208A	FAT2	NM_001447.3(FAT2):c.5919C>T:p.Tyr1973=	coding	Benign
5	151545583	A	G	A151545583G	FAT2	NM_001447.3(FAT2):c.5544T>C:p.Pro1848=	coding	Benign
5	151549373	C	T	C151549373T	FAT2	NM_001447.3(FAT2):c.4711G>A:p.Gly1571Ser	coding	Benign
5	151550625	C	T	C151550625T	FAT2	NM_001447.3(FAT2):c.4543G>A:p.Gly1515Ser	coding	Benign
5	151550784	C	T	C151550784T	FAT2	NM_001447.3(FAT2):c.4384G>A:p.Val1462Met	coding	Benign
5	151551521	C	G	C151551521G	FAT2	NM_001447.3(FAT2):c.4242G>C:p.Ser1414=	coding	Benign
5	151553241	C	T	C151553241T	FAT2	NM_001447.3(FAT2):c.4092G>A:p.Val1364=	coding	Benign
5	151556417	A	T	A151556417T	FAT2	NM_001447.3(FAT2):c.3575-15T>A	noncoding	Benign
5	151563213	A	G	A151563213G	FAT2	NM_001447.3(FAT2):c.3574+112T>C	noncoding	Benign
5	151563358	A	G	A151563358G	FAT2	NM_001447.3(FAT2):c.3541T>C:p.Tyr1181His	coding	Benign
5	151563408	G	A	G151563408A	FAT2	NM_001447.3(FAT2):c.3491C>T:p.Pro1164Leu	coding	Benign
5	151563500	G	T	G151563500T	FAT2	NM_001447.3(FAT2):c.3399C>A:p.Asn1133Lys	coding	Benign/Likely_benign
5	151563524	G	A	G151563524A	FAT2	NM_001447.3(FAT2):c.3375C>T:p.Ile1125=	coding	Benign
5	151565458	C	A	C151565458A	FAT2	NM_001447.3(FAT2):c.3259+215G>T	noncoding	Benign
5	151565511	C	A	C151565511A	FAT2	NM_001447.3(FAT2):c.3259+162G>T	noncoding	Benign
5	151565531	C	G	C151565531G	FAT2	NM_001447.3(FAT2):c.3259+142G>C	noncoding	Benign
5	151565922	C	T	C151565922T	FAT2	NM_001447.3(FAT2):c.3010G>A:p.Gly1004Ser	coding	Benign
5	151566138	G	A	G151566138A	FAT2	NM_001447.3(FAT2):c.2794C>T:p.Leu932=	coding	Benign
5	151566301	A	G	A151566301G	FAT2	NM_001447.3(FAT2):c.2631T>C:p.Val877=	coding	Benign
5	151566370	C	T	C151566370T	FAT2	NM_001447.3(FAT2):c.2562G>A:p.Arg854=	coding	Benign
5	151566571	G	A	G151566571A	FAT2	NM_001447.3(FAT2):c.2361C>T:p.Ile787=	coding	Benign
5	151566875	A	G	A151566875G	FAT2	NM_001447.3(FAT2):c.2057T>C:p.Phe686Ser	coding	Benign
5	151567212	G	A	G151567212A	FAT2	NM_001447.3(FAT2):c.1720C>T:p.Arg574Cys	coding	Benign
5	151567219	C	A	C151567219A	FAT2	NM_001447.3(FAT2):c.1713G>T:p.Gly571=	coding	Benign
5	151567405	G	A	G151567405A	FAT2	NM_001447.3(FAT2):c.1527C>T:p.Pro509=	coding	Benign
5	151567567	G	A	G151567567A	FAT2	NM_001447.3(FAT2):c.1365C>T:p.Ala455=	coding	Benign
5	151568158	C	T	C151568158T	FAT2	NM_001447.3(FAT2):c.774G>A:p.Ser258=	coding	Benign
5	151568330	C	G	C151568330G	FAT2	NM_001447.3(FAT2):c.602G>C:p.Gly201Ala	coding	Benign
5	151568455	C	T	C151568455T	FAT2	NM_001447.3(FAT2):c.477G>A:p.Glu159=	coding	Benign
5	151568976	T	C	T151568976C	FAT2	NM_001447.3(FAT2):c.-20-25A>G	noncoding	Benign
5	151569092	A	G	A151569092G	FAT2	NM_001447.3(FAT2):c.-20-141T>C	noncoding	Benign
5	151662989	C	G	C151662989G	SPARC	NM_003118.4(SPARC):c.*582G>C	noncoding	Benign
5	151663542	G	C	G151663542C	SPARC	NM_003118.4(SPARC):c.*29C>G	coding	Benign
5	151663652	G	A	G151663652A	SPARC	NM_003118.4(SPARC):c.884-53C>T	noncoding	Benign
5	151667169	A	G	A151667169G	SPARC	NM_003118.4(SPARC):c.585+298T>C	noncoding	Benign
5	151667367	C	T	C151667367T	SPARC	NM_003118.4(SPARC):c.585+100G>A	noncoding	Benign
5	151667669	A	C	A151667669C	SPARC	NM_003118.4(SPARC):c.452-69T>G	noncoding	Benign
5	151667932	C	T	C151667932T	SPARC	NM_003118.4(SPARC):c.452-332G>A	noncoding	Benign
5	151669843	A	C	A151669843C	SPARC	NM_003118.4(SPARC):c.331-59T>G	noncoding	Benign
5	151671928	G	C	G151671928C	SPARC	NM_003118.4(SPARC):c.209-234C>G	noncoding	Benign
5	151672976	C	G	C151672976G	SPARC	NM_003118.4(SPARC):c.208+153G>C	noncoding	Benign
5	151673002	T	C	T151673002C	SPARC	NM_003118.4(SPARC):c.208+127A>G	noncoding	Benign
5	151673098	G	A	G151673098A	SPARC	NM_003118.4(SPARC):c.208+31C>T	noncoding	Benign
5	151673358	C	T	C151673358T	SPARC	NM_003118.4(SPARC):c.121-142G>A	noncoding	Benign
5	151674570	A	G	A151674570G	SPARC	NM_003118.4(SPARC):c.120+42T>C	noncoding	Benign
5	151674576	A	C	A151674576C	SPARC	NM_003118.4(SPARC):c.120+36T>G	noncoding	Benign
5	151674666	T	C	T151674666C	SPARC	NM_003118.4(SPARC):c.66A>G:p.Glu22=	coding	Benign
5	151676076	C	G	C151676076G	SPARC	NM_003118.4(SPARC):c.57+56G>C	noncoding	Benign
5	151676134	G	A	G151676134A	SPARC	NM_003118.4(SPARC):c.55C>T:p.Pro19Ser	coding	Benign
5	151676482	G	A	G151676482A	SPARC	NM_003118.4(SPARC):c.-13-281C>T	noncoding	Benign
5	151822809	C	T	C151822809T	GLRA1	NM_000171.4(GLRA1):c.1214G>A:p.Arg405Gln	coding	Benign/Likely_benign
5	151822922	A	T	A151822922T	GLRA1	NM_000171.4(GLRA1):c.1101T>A:p.Tyr367Ter	coding	Pathogenic
5	151828807	C	T	C151828807T	GLRA1	NM_000171.4(GLRA1):c.1059+114G>A	noncoding	Benign
5	151829038	C	T	C151829038T	GLRA1	NM_000171.4(GLRA1):c.942G>A:p.Trp314Ter	coding	Pathogenic
5	151829329	T	C	T151829329C	GLRA1	NM_000171.4(GLRA1):c.913-262A>G	noncoding	Benign
5	151851127	G	A	G151851127A	GLRA1	NM_000171.4(GLRA1):c.912+263C>T	noncoding	Benign
5	151851407	G	A	G151851407A	GLRA1	NM_000171.4(GLRA1):c.895C>T:p.Arg299Ter	coding	Pathogenic
5	151851570	C	T	C151851570T	GLRA1	NM_000171.4(GLRA1):c.732G>A:p.Leu244=	coding	Benign
5	151851899	A	G	A151851899G	GLRA1	NM_000171.4(GLRA1):c.698-295T>C	noncoding	Benign
5	151854975	T	C	T151854975C	GLRA1	NM_000171.4(GLRA1):c.697+65A>G	noncoding	Benign
5	151855016	G	A	G151855016A	GLRA1	NM_000171.4(GLRA1):c.697+24C>T	noncoding	Benign
5	151855062	G	T	G151855062T	GLRA1	NM_000171.4(GLRA1):c.675C>A:p.Tyr225Ter	coding	Pathogenic
5	151855361	G	A	G151855361A	GLRA1	NM_000171.4(GLRA1):c.560-184C>T	noncoding	Benign
5	151856478	A	G	A151856478G	GLRA1	NM_000171.4(GLRA1):c.477-95T>C	noncoding	Benign
5	151859624	C	T	C151859624T	GLRA1	NM_000171.4(GLRA1):c.476+161G>A	noncoding	Benign
5	151859729	G	A	G151859729A	GLRA1	NM_000171.4(GLRA1):c.476+56C>T	noncoding	Benign
5	151859745	T	C	T151859745C	GLRA1	NM_000171.4(GLRA1):c.476+40A>G	noncoding	Benign
5	151859812	C	T	C151859812T	GLRA1	NM_000171.4(GLRA1):c.449G>A:p.Arg150Gln	coding	Benign/Likely_benign
5	151886488	T	C	T151886488C	GLRA1	NM_000171.4(GLRA1):c.252+233A>G	noncoding	Benign
5	151886523	T	C	T151886523C	GLRA1	NM_000171.4(GLRA1):c.252+198A>G	noncoding	Benign
5	151886973	C	T	C151886973T	GLRA1	NM_000171.4(GLRA1):c.185-185G>A	noncoding	Benign
5	151892450	G	A	G151892450A	GLRA1	NM_000171.4(GLRA1):c.57-12C>T	noncoding	Benign/Likely_benign
5	151924982	G	C	G151924982C	GLRA1	Single_allele	noncoding	Benign
5	153686324	C	T	C153686324T	GRIA1	NM_000827.4(GRIA1):c.1129C>T:p.Arg377Ter	coding	Pathogenic
5	153764516	G	A	G153764516A	GRIA1	NM_000827.4(GRIA1):c.1906G>A:p.Ala636Thr	coding	Pathogenic/Likely_pathogenic
5	153770379	G	A	G153770379A	GRIA1	NM_000827.4(GRIA1):c.2234G>A:p.Gly745Asp	coding	Pathogenic/Likely_pathogenic
5	154033830	C	T	C154033830T	FAM114A2	NM_018691.4(FAM114A2):c.364G>A:p.Gly122Ser	coding	Benign
5	154477396	T	C	T154477396C	HAND1	NM_004821.3(HAND1):c.543+70A>G	noncoding	Benign
5	154477414	C	G	C154477414G	HAND1	NM_004821.3(HAND1):c.543+52G>C	noncoding	Benign
5	154477963	G	T	G154477963T	HAND1	NM_004821.3(HAND1):c.46C>A:p.Pro16Thr	coding	Benign
5	154478209	A	G	A154478209G	HAND1	NM_004821.3(HAND1):c.-201T>C	noncoding	Benign
5	154891647	A	T	A154891647T	GEMIN5	NM_015465.5(GEMIN5):c.3856T>A:p.Tyr1286Asn	coding	Pathogenic
5	154896333	A	G	A154896333G	GEMIN5	NM_015465.5(GEMIN5):c.3356T>C:p.Leu1119Ser	coding	Pathogenic
5	154898582	A	G	A154898582G	GEMIN5	NM_015465.5(GEMIN5):c.3203T>C:p.Leu1068Pro	coding	Pathogenic
5	154901355	A	G	A154901355G	GEMIN5	NM_015465.5(GEMIN5):c.2998T>C:p.Ser1000Pro	coding	Pathogenic
5	154902667	T	C	T154902667C	GEMIN5	NM_015465.5(GEMIN5):c.2738A>G:p.His913Arg	coding	Pathogenic
5	154918002	G	T	G154918002T	GEMIN5	NM_015465.5(GEMIN5):c.1602C>A:p.Tyr534Ter	coding	Pathogenic
5	154937070	C	T	C154937070T	GEMIN5	NM_015465.5(GEMIN5):c.282G>A:p.Trp94Ter	coding	Pathogenic
5	156117876	A	G	A156117876G	SGCD	Single_allele	noncoding	Benign
5	156326739	C	A	C156326739A	SGCD	Single_allele	noncoding	Benign
5	156326901	A	G	A156326901G	SGCD	Single_allele	noncoding	Benign
5	156327060	C	G	C156327060G	SGCD	Single_allele	noncoding	Benign
5	156329590	C	T	C156329590T	SGCD	NM_000337.6(SGCD):c.3+11C>T	noncoding	Benign/Likely_benign
5	156344495	C	T	C156344495T	SGCD	NM_000337.6(SGCD):c.10C>T:p.Gln4Ter	coding	Pathogenic
5	156344582	C	T	C156344582T	SGCD	NM_000337.6(SGCD):c.97C>T:p.Arg33Ter	coding	Pathogenic
5	156434430	C	A	C156434430A	SGCD	NM_000337.6(SGCD):c.193-74171C>A	noncoding	Benign
5	156508791	A	G	A156508791G	SGCD	NM_000337.6(SGCD):c.294+89A>G	noncoding	Benign
5	156508826	A	G	A156508826G	SGCD	NM_000337.6(SGCD):c.294+124A>G	noncoding	Benign
5	156589211	C	A	C156589211A	SGCD	NM_000337.6(SGCD):c.295-20C>A	noncoding	Benign/Likely_benign
5	156595015	G	T	G156595015T	SGCD	NM_000337.6(SGCD):c.466G>T:p.Glu156Ter	coding	Pathogenic
5	156647529	G	T	G156647529T	SGCD	NM_000337.6(SGCD):c.568G>T:p.Glu190Ter	coding	Pathogenic
5	156757497	G	T	G156757497T	SGCD	NM_000337.6(SGCD):c.576-84G>T	noncoding	Benign
5	156757635	C	T	C156757635T	SGCD	NM_000337.6(SGCD):c.630C>T:p.Ile210=	coding	Benign/Likely_benign
5	156759076	C	T	C156759076T	SGCD	NM_000337.6(SGCD):c.700-141C>T	noncoding	Benign
5	157104725	C	A	C157104725A	HAVCR2	NM_032782.5(HAVCR2):c.419G>T:p.Arg140Leu	coding	Benign
5	157106719	G	A	G157106719A	HAVCR2	NM_032782.5(HAVCR2):c.302C>T:p.Thr101Ile	coding	Benign
5	157180782	C	T	C157180782T	ITK	NC_000005.9:g.156607793C>T	noncoding	Benign
5	157181026	C	T	C157181026T	ITK	NM_005546.4(ITK):c.49C>T:p.Gln17Ter	coding	Pathogenic
5	157181273	T	A	T157181273A	ITK	NM_005546.4(ITK):c.138+158T>A	noncoding	Benign
5	157214034	G	A	G157214034A	ITK	NM_005546.4(ITK):c.326-157G>A	noncoding	Benign
5	157217613	C	T	C157217613T	ITK	NM_005546.4(ITK):c.455-254C>T	noncoding	Benign
5	157217638	G	A	G157217638A	ITK	NM_005546.4(ITK):c.455-229G>A	noncoding	Benign
5	157217929	G	A	G157217929A	ITK	NM_005546.4(ITK):c.495+22G>A	noncoding	Benign
5	157223042	C	T	C157223042T	ITK	NM_005546.4(ITK):c.647+28C>T	noncoding	Benign
5	157237812	T	C	T157237812C	ITK	NM_005546.4(ITK):c.769-297T>C	noncoding	Benign
5	157237889	G	T	G157237889T	ITK	NM_005546.4(ITK):c.769-220G>T	noncoding	Benign
5	157237945	C	T	C157237945T	ITK	NM_005546.4(ITK):c.769-164C>T	noncoding	Benign
5	157237968	C	T	C157237968T	ITK	NM_005546.4(ITK):c.769-141C>T	noncoding	Benign
5	157239789	T	G	T157239789G	ITK	NM_005546.4(ITK):c.852-273T>G	noncoding	Benign
5	157241458	T	C	T157241458C	ITK	NM_005546.4(ITK):c.986-188T>C	noncoding	Benign
5	157243813	G	A	G157243813A	ITK	NM_005546.4(ITK):c.1232+19G>A	noncoding	Benign
5	157243906	C	T	C157243906T	ITK	NM_005546.4(ITK):c.1232+112C>T	noncoding	Benign
5	157243990	C	T	C157243990T	ITK	NM_005546.4(ITK):c.1232+196C>T	noncoding	Benign
5	157245709	G	A	G157245709A	ITK	NM_005546.4(ITK):c.1450-17G>A	noncoding	Benign
5	157246215	T	C	T157246215C	ITK	NM_005546.4(ITK):c.1633+216T>C	noncoding	Benign
5	157248834	T	C	T157248834C	ITK	NM_005546.4(ITK):c.1634-16T>C	noncoding	Benign
5	157252413	G	A	G157252413A	ITK	NM_005546.4(ITK):c.1792-194G>A	noncoding	Benign
5	157252566	T	C	T157252566C	ITK	NM_005546.4(ITK):c.1792-41T>C	noncoding	Benign
5	157285442	A	G	A157285442G	CYFIP2	NM_001037333.3(CYFIP2):c.81A>G:p.Pro27=	coding	Benign
5	157287105	C	T	C157287105T	CYFIP2	NM_001037333.3(CYFIP2):c.204C>T:p.Ser68=	coding	Benign
5	157287128	G	A	G157287128A	CYFIP2	NM_001037333.3(CYFIP2):c.207+20G>A	noncoding	Benign
5	157294835	G	C	G157294835C	CYFIP2	NM_001037333.3(CYFIP2):c.260G>C:p.Arg87Pro	coding	Pathogenic/Likely_pathogenic
5	157296667	C	T	C157296667T	CYFIP2	NM_001037333.3(CYFIP2):c.286-6C>T	noncoding	Benign
5	157296684	C	T	C157296684T	CYFIP2	NM_001037333.3(CYFIP2):c.297C>T:p.Asn99=	coding	Benign
5	157300705	C	T	C157300705T	CYFIP2	NM_001037333.3(CYFIP2):c.388-10C>T	noncoding	Benign
5	157300726	C	T	C157300726T	CYFIP2	NM_001037333.3(CYFIP2):c.399C>T:p.Ile133=	coding	Benign
5	157300861	G	A	G157300861A	CYFIP2	NM_001037333.3(CYFIP2):c.534G>A:p.Lys178=	coding	Benign
5	157302845	G	A	G157302845A	CYFIP2	NM_001037333.3(CYFIP2):c.621G>A:p.Ser207=	coding	Benign
5	157302898	C	T	C157302898T	CYFIP2	NM_001037333.3(CYFIP2):c.666+8C>T	noncoding	Benign
5	157311648	A	G	A157311648G	CYFIP2	NM_001037333.3(CYFIP2):c.993-16A>G	noncoding	Benign
5	157311822	G	C	G157311822C	CYFIP2	NM_001037333.3(CYFIP2):c.1110+41G>C	noncoding	Benign
5	157314327	C	G	C157314327G	CYFIP2	NM_001037333.3(CYFIP2):c.1111-17C>G	noncoding	Benign
5	157314403	C	T	C157314403T	CYFIP2	NM_001037333.3(CYFIP2):c.1170C>T:p.Phe390=	coding	Benign
5	157314427	G	C	G157314427C	CYFIP2	NM_001037333.3(CYFIP2):c.1194G>C:p.Gln398His	coding	Benign
5	157315025	C	T	C157315025T	CYFIP2	NM_001037333.3(CYFIP2):c.1287C>T:p.Gly429=	coding	Benign
5	157315037	A	G	A157315037G	CYFIP2	NM_001037333.3(CYFIP2):c.1299A>G:p.Glu433=	coding	Benign
5	157319943	G	A	G157319943A	CYFIP2	NM_001037333.3(CYFIP2):c.1523+15G>A	noncoding	Benign
5	157320661	A	G	A157320661G	CYFIP2	NM_001037333.3(CYFIP2):c.1530A>G:p.Leu510=	coding	Benign
5	157323901	A	G	A157323901G	CYFIP2	NM_001037333.3(CYFIP2):c.1672-20A>G	noncoding	Benign
5	157324004	A	G	A157324004G	CYFIP2	NM_001037333.3(CYFIP2):c.1755A>G:p.Gly585=	coding	Benign
5	157326249	C	T	C157326249T	CYFIP2	NM_001037333.3(CYFIP2):c.2061C>T:p.Tyr687=	coding	Benign
5	157326276	T	C	T157326276C	CYFIP2	NM_001037333.3(CYFIP2):c.2079+9T>C	noncoding	Benign
5	157330731	A	G	A157330731G	CYFIP2	NM_001037333.3(CYFIP2):c.2157-11A>G	noncoding	Benign
5	157330808	G	A	G157330808A	CYFIP2	NM_001037333.3(CYFIP2):c.2223G>A:p.Pro741=	coding	Benign
5	157330826	A	G	A157330826G	CYFIP2	NM_001037333.3(CYFIP2):c.2241A>G:p.Thr747=	coding	Benign
5	157333408	A	G	A157333408G	CYFIP2	NM_001037333.3(CYFIP2):c.2347A>G:p.Ile783Val	coding	Benign
5	157333434	G	C	G157333434C	CYFIP2	NM_001037333.3(CYFIP2):c.2373G>C:p.Leu791=	coding	Benign
5	157333463	G	A	G157333463A	CYFIP2	NM_001037333.3(CYFIP2):c.2385+17G>A	noncoding	Benign
5	157339167	C	T	C157339167T	CYFIP2	NM_001037333.3(CYFIP2):c.2496C>T:p.Ser832=	coding	Benign
5	157339265	G	A	G157339265A	CYFIP2	NM_001037333.3(CYFIP2):c.2585+9G>A	noncoding	Benign
5	157341057	A	G	A157341057G	CYFIP2	NM_001037333.3(CYFIP2):c.2586-13A>G	noncoding	Benign
5	157341124	C	T	C157341124T	CYFIP2	NM_001037333.3(CYFIP2):c.2640C>T:p.Ala880=	coding	Benign
5	157359106	C	T	C157359106T	CYFIP2	NM_001037333.3(CYFIP2):c.2775C>T:p.Ile925=	coding	Benign
5	157359115	C	T	C157359115T	CYFIP2	NM_001037333.3(CYFIP2):c.2784C>T:p.Val928=	coding	Benign
5	157359160	C	A	C157359160A	CYFIP2	NM_001037333.3(CYFIP2):c.2817+12C>A	noncoding	Benign
5	157361502	C	T	C157361502T	CYFIP2	NM_001037333.3(CYFIP2):c.2943C>T:p.Asp981=	coding	Benign
5	157361565	C	T	C157361565T	CYFIP2	NM_001037333.3(CYFIP2):c.3006C>T:p.Ala1002=	coding	Benign
5	157383274	G	T	G157383274T	CYFIP2	NM_001037333.3(CYFIP2):c.3122G>T:p.Arg1041Leu	coding	Benign
5	157389206	C	T	C157389206T	CYFIP2	NM_001037333.3(CYFIP2):c.3225C>T:p.Arg1075=	coding	Benign
5	157389393	T	A	T157389393A	CYFIP2	NM_001037333.3(CYFIP2):c.3412T>A:p.Cys1138Ser	coding	Benign
5	157389442	G	C	G157389442C	CYFIP2	NM_001037333.3(CYFIP2):c.3446+15G>C	noncoding	Benign
5	157390514	C	G	C157390514G	CYFIP2	NM_001037333.3(CYFIP2):c.3447-7C>G	noncoding	Benign
5	157390557	C	T	C157390557T	CYFIP2	NM_001037333.3(CYFIP2):c.3483C>T:p.Cys1161=	coding	Benign
5	157392919	C	T	C157392919T	CYFIP2	NM_001037333.3(CYFIP2):c.3681C>T:p.Ser1227=	coding	Benign/Likely_benign
5	157392928	A	G	A157392928G	CYFIP2	NM_001037333.3(CYFIP2):c.3690A>G:p.Thr1230=	coding	Benign
5	157459690	C	T	C157459690T	NIPAL4	Single_allele	noncoding	Benign
5	157459811	G	C	G157459811C	NIPAL4	Single_allele	noncoding	Benign
5	157459842	A	G	A157459842G	NIPAL4	Single_allele	noncoding	Benign
5	157459885	C	T	C157459885T	NIPAL4	Single_allele	noncoding	Benign
5	157460262	C	T	C157460262T	NIPAL4	NM_001099287.2(NIPAL4):c.-59C>T	coding	Benign
5	157460381	C	G	C157460381G	NIPAL4	NM_001099287.2(NIPAL4):c.37+24C>G	noncoding	Benign
5	157460465	G	A	G157460465A	NIPAL4	NM_001099287.2(NIPAL4):c.37+108G>A	noncoding	Benign
5	157467089	G	A	G157467089A	NIPAL4	NM_001099287.2(NIPAL4):c.318G>A:p.Trp106Ter	coding	Pathogenic
5	157467335	C	G	C157467335G	NIPAL4	NM_001099287.2(NIPAL4):c.334+230C>G	noncoding	Benign
5	157469093	T	C	T157469093C	NIPAL4	NM_001099287.2(NIPAL4):c.425+281T>C	noncoding	Benign
5	157471684	G	A	G157471684A	NIPAL4	NM_001099287.2(NIPAL4):c.453G>A:p.Arg151_Glu152=	coding	Benign
5	157471866	C	A	C157471866A	NIPAL4	NM_001099287.2(NIPAL4):c.586+49C>A	noncoding	Benign
5	157471891	G	A	G157471891A	NIPAL4	NM_001099287.2(NIPAL4):c.586+74G>A	noncoding	Benign
5	157471959	G	A	G157471959A	NIPAL4	NM_001099287.2(NIPAL4):c.586+142G>A	noncoding	Benign
5	157472165	A	C	A157472165C	NIPAL4	NM_001099287.2(NIPAL4):c.587-167A>C	noncoding	Benign
5	157472282	T	C	T157472282C	NIPAL4	NM_001099287.2(NIPAL4):c.587-50T>C	noncoding	Benign
5	157734736	C	T	C157734736T	THG1L	NM_017872.5(THG1L):c.529C>T:p.Gln177Ter	coding	Pathogenic
5	157737881	T	C	T157737881C	THG1L	NM_017872.5(THG1L):c.628-6T>C	noncoding	Benign
5	157737954	T	C	T157737954C	THG1L	NM_017872.5(THG1L):c.695T>C:p.Leu232Pro	coding	Benign
5	157754046	G	A	G157754046A	LSM11	NM_173491.4(LSM11):c.631G>A:p.Gly211Ser	coding	Pathogenic
5	159320493	G	T	G159320493T	IL12B	NM_002187.3(IL12B):c.510C>A:p.Cys170Ter	coding	Pathogenic
5	161294190	G	A	G161294190A	GABRB2	NM_001371727.1(GABRB2):c.1430C>T:p.Thr477Ile	coding	Benign
5	161294271	C	T	C161294271T	GABRB2	NM_001371727.1(GABRB2):c.1349G>A:p.Ser450Asn	coding	Benign/Likely_benign
5	161294340	G	A	G161294340A	GABRB2	NM_001371727.1(GABRB2):c.1280C>T:p.Pro427Leu	coding	Benign
5	161326181	A	G	A161326181G	GABRB2	NM_001371727.1(GABRB2):c.1191+187T>C	noncoding	Benign
5	161326369	G	A	G161326369A	GABRB2	NM_001371727.1(GABRB2):c.1190C>T:p.Thr397Met	coding	Benign
5	161326381	A	G	A161326381G	GABRB2	NM_001371727.1(GABRB2):c.1178T>C:p.Phe393Ser	coding	Benign
5	161326415	G	A	G161326415A	GABRB2	NM_001371727.1(GABRB2):c.1144C>T:p.Leu382Phe	coding	Benign
5	161326465	A	C	A161326465C	GABRB2	NM_001371727.1(GABRB2):c.1094T>G:p.Ile365Ser	coding	Benign
5	161326490	C	T	C161326490T	GABRB2	NM_001371727.1(GABRB2):c.1078-9G>A	noncoding	Benign/Likely_benign
5	161330877	A	G	A161330877G	GABRB2	NM_001371727.1(GABRB2):c.1077+6T>C	noncoding	Benign/Likely_benign
5	161330920	C	T	C161330920T	GABRB2	NM_001371727.1(GABRB2):c.1040G>A:p.Ser347Asn	coding	Benign
5	161330979	G	C	G161330979C	GABRB2	NM_001371727.1(GABRB2):c.981C>G:p.Asn327Lys	coding	Pathogenic
5	161331014	C	T	C161331014T	GABRB2	NM_001371727.1(GABRB2):c.946G>A:p.Val316Ile	coding	Pathogenic
5	161331049	G	A	G161331049A	GABRB2	NM_001371727.1(GABRB2):c.911C>T:p.Ala304Val	coding	Pathogenic
5	161331051	C	A	C161331051A	GABRB2	NM_001371727.1(GABRB2):c.909G>T:p.Lys303Asn	coding	Pathogenic/Likely_pathogenic
5	161331058	T	A	T161331058A	GABRB2	NM_001371727.1(GABRB2):c.902A>T:p.Tyr301Phe	coding	Pathogenic
5	161331058	T	C	T161331058C	GABRB2	NM_001371727.1(GABRB2):c.902A>G:p.Tyr301Cys	coding	Pathogenic/Likely_pathogenic
5	161334695	G	A	G161334695A	GABRB2	NM_001371727.1(GABRB2):c.832+57C>T	noncoding	Benign
5	161334829	G	A	G161334829A	GABRB2	NM_001371727.1(GABRB2):c.755C>T:p.Pro252Leu	coding	Pathogenic
5	161334907	A	G	A161334907G	GABRB2	NM_001371727.1(GABRB2):c.680-3T>C	noncoding	Benign
5	161336589	C	T	C161336589T	GABRB2	NM_001371727.1(GABRB2):c.679+43G>A	noncoding	Benign
5	161336809	G	A	G161336809A	GABRB2	NM_001371727.1(GABRB2):c.542-40C>T	noncoding	Benign
5	161336814	C	A	C161336814A	GABRB2	NM_001371727.1(GABRB2):c.542-45G>T	noncoding	Benign
5	161336815	A	C	A161336815C	GABRB2	NM_001371727.1(GABRB2):c.542-46T>G	noncoding	Benign
5	161336818	A	C	A161336818C	GABRB2	NM_001371727.1(GABRB2):c.542-49T>G	noncoding	Benign
5	161336819	A	C	A161336819C	GABRB2	NM_001371727.1(GABRB2):c.542-50T>G	noncoding	Benign
5	161411057	T	C	T161411057C	GABRB2	NM_001371727.1(GABRB2):c.459A>G:p.Arg153=	coding	Benign
5	161459564	A	G	A161459564G	GABRB2	NM_001371727.1(GABRB2):c.458+60T>C	noncoding	Benign
5	161459621	G	A	G161459621A	GABRB2	NM_001371727.1(GABRB2):c.458+3C>T	noncoding	Benign
5	161546290	G	C	G161546290C	GABRB2	NM_001371727.1(GABRB2):c.169+32C>G	noncoding	Benign
5	161546446	A	G	A161546446G	GABRB2	NM_001371727.1(GABRB2):c.78-33T>C	noncoding	Benign
5	161546551	C	A	C161546551A	GABRB2	NM_001371727.1(GABRB2):c.77+16G>T	noncoding	Benign/Likely_benign
5	161546635	T	A	T161546635A	GABRB2	NM_001371727.1(GABRB2):c.9A>T:p.Arg3Ser	coding	Benign/Likely_benign
5	161685998	G	A	G161685998A	GABRA6	NM_000811.3(GABRA6):c.9G>A:p.Ser3=	coding	Benign
5	161692065	G	T	G161692065T	GABRA6	NM_000811.3(GABRA6):c.951G>T:p.Ala317=	coding	Benign
5	161692119	C	G	C161692119G	GABRA6	NM_000811.3(GABRA6):c.1005C>G:p.Ala335=	coding	Benign
5	161701621	C	T	C161701621T	GABRA6	NM_000811.3(GABRA6):c.1210C>T:p.Pro404Ser	coding	Benign
5	161701755	C	G	C161701755G	GABRA6	NM_000811.3(GABRA6):c.1344C>G:p.Val448=	coding	Benign
5	161701908	C	T	C161701908T	GABRA6	NM_000811.3(GABRA6):c.*135C>T	noncoding	Benign
5	161848172	G	T	G161848172T	GABRA1	NM_001127644.2(GABRA1):c.-266G>T	noncoding	Benign
5	161848385	C	A	C161848385A	GABRA1	NM_001127644.2(GABRA1):c.-53C>A	noncoding	Benign/Likely_benign
5	161849273	T	A	T161849273A	GABRA1	NM_001127644.2(GABRA1):c.-16+851T>A	noncoding	Benign
5	161850837	C	A	C161850837A	GABRA1	NM_001127644.2(GABRA1):c.27C>A:p.Asp9Glu	coding	Benign/Likely_benign
5	161850838	T	C	T161850838C	GABRA1	NM_001127644.2(GABRA1):c.28T>C:p.Cys10Arg	coding	Benign
5	161850903	A	G	A161850903G	GABRA1	NM_001127644.2(GABRA1):c.74+19A>G	noncoding	Benign/Likely_benign
5	161854456	A	T	A161854456T	GABRA1	NM_001127644.2(GABRA1):c.187+186A>T	noncoding	Benign
5	161865768	C	A	C161865768A	GABRA1	NM_001127644.2(GABRA1):c.235C>A:p.Pro79Thr	coding	Benign
5	161872914	A	G	A161872914G	GABRA1	NM_001127644.2(GABRA1):c.256-203A>G	noncoding	Benign
5	161872924	T	A	T161872924A	GABRA1	NM_001127644.2(GABRA1):c.256-193T>A	noncoding	Benign
5	161872983	C	T	C161872983T	GABRA1	NM_001127644.2(GABRA1):c.256-134C>T	noncoding	Benign
5	161873183	A	G	A161873183G	GABRA1	NM_001127644.2(GABRA1):c.322A>G:p.Met108Val	coding	Benign
5	161873283	T	G	T161873283G	GABRA1	NM_001127644.2(GABRA1):c.422T>G:p.Met141Arg	coding	Benign
5	161875642	T	G	T161875642G	GABRA1	NM_001127644.2(GABRA1):c.559T>G:p.Tyr187Asp	coding	Pathogenic
5	161890764	C	T	C161890764T	GABRA1	NM_001127644.2(GABRA1):c.704-134C>T	noncoding	Benign
5	161890919	C	T	C161890919T	GABRA1	NM_001127644.2(GABRA1):c.725C>T:p.Thr242Ile	coding	Benign
5	161891126	A	G	A161891126G	GABRA1	NM_001127644.2(GABRA1):c.856+76A>G	noncoding	Benign
5	161895663	C	T	C161895663T	GABRA1	NM_001127644.2(GABRA1):c.857-3C>T	noncoding	Benign
5	161895804	C	T	C161895804T	GABRA1	NM_001127644.2(GABRA1):c.995C>T:p.Ala332Val	coding	Pathogenic
5	161895824	A	G	A161895824G	GABRA1	NM_001127644.2(GABRA1):c.1015A>G:p.Lys339Glu	coding	Pathogenic
5	161897130	C	T	C161897130T	GABRA1	NM_001127644.2(GABRA1):c.1079C>T:p.Pro360Leu	coding	Benign
5	161897150	A	T	A161897150T	GABRA1	NM_001127644.2(GABRA1):c.1099A>T:p.Thr367Ser	coding	Benign
5	161897197	C	T	C161897197T	GABRA1	NM_001127644.2(GABRA1):c.1146C>T:p.Gly382=	coding	Benign/Likely_benign
5	162068016	T	C	T162068016C	GABRG2	NM_198904.4(GABRG2):c.17T>C:p.Ile6Thr	coding	Benign
5	162068051	G	C	G162068051C	GABRG2	NM_198904.4(GABRG2):c.52G>C:p.Val18Leu	coding	Benign/Likely_benign
5	162093939	G	A	G162093939A	GABRG2	NM_198904.4(GABRG2):c.219G>A:p.Leu73=	coding	Benign/Likely_benign
5	162095312	G	A	G162095312A	GABRG2	NM_198904.4(GABRG2):c.260-183G>A	noncoding	Benign
5	162098047	T	G	T162098047G	GABRG2	NM_198904.4(GABRG2):c.548+189T>G	noncoding	Benign
5	162103729	C	T	C162103729T	GABRG2	NM_198904.4(GABRG2):c.632-160C>T	noncoding	Benign
5	162103883	C	T	C162103883T	GABRG2	NM_198904.4(GABRG2):c.632-6C>T	noncoding	Benign/Likely_benign
5	162103927	C	T	C162103927T	GABRG2	NM_198904.4(GABRG2):c.670C>T:p.Arg224Ter	coding	Pathogenic/Likely_pathogenic
5	162142271	T	A	T162142271A	GABRG2	NM_198904.4(GABRG2):c.877T>A:p.Ser293Thr	coding	Pathogenic
5	162142311	C	T	C162142311T	GABRG2	NM_198904.4(GABRG2):c.917C>T:p.Ser306Phe	coding	Pathogenic
5	162149114	C	G	C162149114G	GABRG2	NM_198904.4(GABRG2):c.929C>G:p.Thr310Ser	coding	Pathogenic
5	162149307	A	G	A162149307G	GABRG2	NM_198904.4(GABRG2):c.1122A>G:p.Lys374=	coding	Benign/Likely_benign
5	162153086	G	A	G162153086A	GABRG2	NM_198904.4(GABRG2):c.1153-7G>A	noncoding	Benign/Likely_benign
5	162153237	C	T	C162153237T	GABRG2	NM_198904.4(GABRG2):c.1297C>T:p.Arg433Ter	coding	Pathogenic
5	168262399	C	T	C168262399T	TENM2	NM_001395460.1(TENM2):c.7914C>T:p.Ile2638=	coding	Benign
5	168408534	C	T	C168408534T	WWC1	NM_015238.3(WWC1):c.748C>T:p.Arg250Cys	coding	Benign
5	168486501	G	T	G168486501T	RARS1	NM_002887.4(RARS1):c.3G>T:p.Met1Ile	coding	Pathogenic
5	168486508	C	T	C168486508T	RARS1	NM_002887.4(RARS1):c.10C>T:p.Leu4=	coding	Benign
5	168486598	C	T	C168486598T	RARS1	NM_002887.4(RARS1):c.45+55C>T	noncoding	Benign
5	168486795	C	T	C168486795T	RARS1	NM_002887.4(RARS1):c.45+252C>T	noncoding	Benign
5	168488594	T	C	T168488594C	RARS1	NM_002887.4(RARS1):c.46-8T>C	noncoding	Benign
5	168488638	C	T	C168488638T	RARS1	NM_002887.4(RARS1):c.82C>T:p.Arg28Trp	coding	Benign/Likely_benign
5	168492543	G	A	G168492543A	RARS1	NM_002887.4(RARS1):c.181-116G>A	noncoding	Benign
5	168492618	T	A	T168492618A	RARS1	NM_002887.4(RARS1):c.181-41T>A	noncoding	Benign
5	168493969	G	T	G168493969T	RARS1	NM_002887.4(RARS1):c.445G>T:p.Glu149Ter	coding	Pathogenic
5	168494042	C	G	C168494042G	RARS1	NM_002887.4(RARS1):c.478+40C>G	noncoding	Benign
5	168495456	G	A	G168495456A	RARS1	NM_002887.4(RARS1):c.701+20G>A	noncoding	Benign/Likely_benign
5	168495458	A	G	A168495458G	RARS1	NM_002887.4(RARS1):c.701+22A>G	noncoding	Benign
5	168495573	C	T	C168495573T	RARS1	NM_002887.4(RARS1):c.701+137C>T	noncoding	Benign
5	168495628	T	G	T168495628G	RARS1	NM_002887.4(RARS1):c.701+192T>G	noncoding	Benign
5	168497118	T	C	T168497118C	RARS1	NM_002887.4(RARS1):c.702-110T>C	noncoding	Benign
5	168497169	T	G	T168497169G	RARS1	NM_002887.4(RARS1):c.702-59T>G	noncoding	Benign
5	168497302	A	G	A168497302G	RARS1	NM_002887.4(RARS1):c.776A>G:p.Tyr259Cys	coding	Benign
5	168497363	C	T	C168497363T	RARS1	NM_002887.4(RARS1):c.822+15C>T	noncoding	Benign/Likely_benign
5	168500536	A	T	A168500536T	RARS1	NM_002887.4(RARS1):c.823-55A>T	noncoding	Benign
5	168502382	A	T	A168502382T	RARS1	NM_002887.4(RARS1):c.1057+277A>T	noncoding	Benign
5	168502386	T	A	T168502386A	RARS1	NM_002887.4(RARS1):c.1057+281T>A	noncoding	Benign
5	168502397	A	T	A168502397T	RARS1	NM_002887.4(RARS1):c.1057+292A>T	noncoding	Benign
5	168505831	T	C	T168505831C	RARS1	NM_002887.4(RARS1):c.1058-190T>C	noncoding	Benign
5	168506216	G	A	G168506216A	RARS1	NM_002887.4(RARS1):c.1236+17G>A	noncoding	Benign/Likely_benign
5	168506219	T	C	T168506219C	RARS1	NM_002887.4(RARS1):c.1236+20T>C	noncoding	Benign
5	168506542	G	A	G168506542A	RARS1	NM_002887.4(RARS1):c.1237-180G>A	noncoding	Benign
5	168506845	A	G	A168506845G	RARS1	NM_002887.4(RARS1):c.1346+14A>G	noncoding	Benign/Likely_benign
5	168506948	A	G	A168506948G	RARS1	NM_002887.4(RARS1):c.1346+117A>G	noncoding	Benign
5	168516627	C	T	C168516627T	RARS1	NM_002887.4(RARS1):c.1453-151C>T	noncoding	Benign
5	168516761	T	G	T168516761G	RARS1	NM_002887.4(RARS1):c.1453-17T>G	noncoding	Benign/Likely_benign
5	168516763	T	G	T168516763G	RARS1	NM_002887.4(RARS1):c.1453-15T>G	noncoding	Benign
5	168517688	C	T	C168517688T	RARS1	NM_002887.4(RARS1):c.1626-127C>T	noncoding	Benign
5	168671230	A	G	A168671230G	SLIT3	NM_003062.4(SLIT3):c.4095T>C:p.Asp1365=	coding	Benign
5	168671458	A	G	A168671458G	SLIT3	NM_003062.4(SLIT3):c.3867T>C:p.Ser1289=	coding	Benign
5	168753076	C	T	C168753076T	SLIT3	NM_003062.4(SLIT3):c.1852G>A:p.Gly618Ser	coding	Benign
5	168806469	G	A	G168806469A	SLIT3	NM_003062.4(SLIT3):c.912C>T:p.Asn304=	coding	Benign
5	168823345	C	G	C168823345G	SLIT3	NM_003062.4(SLIT3):c.558-14G>C	noncoding	Benign
5	169601477	T	C	T169601477C	SPDL1	NM_017785.5(SPDL1):c.1522T>C:p.Tyr508His	coding	Benign
5	169681742	A	G	A169681742G	DOCK2	NM_004946.3(DOCK2):c.471-2A>G	noncoding	Pathogenic
5	169695799	C	A	C169695799A	DOCK2	NM_004946.3(DOCK2):c.844-4C>A	noncoding	Benign
5	169695949	C	T	C169695949T	DOCK2	NM_004946.3(DOCK2):c.979+11C>T	noncoding	Benign
5	169700093	C	A	C169700093A	DOCK2	NM_004946.3(DOCK2):c.1212C>A:p.Thr404=	coding	Benign
5	169702280	G	A	G169702280A	DOCK2	NM_004946.3(DOCK2):c.1259-23G>A	noncoding	Benign
5	169702418	A	G	A169702418G	DOCK2	NM_004946.3(DOCK2):c.1374A>G:p.Lys458=	coding	Benign
5	169702439	A	G	A169702439G	DOCK2	NM_004946.3(DOCK2):c.1383+12A>G	noncoding	Benign
5	169718644	A	T	A169718644T	DOCK2	NM_004946.3(DOCK2):c.2133-13A>T	noncoding	Benign
5	169761502	A	G	A169761502G	DOCK2	NM_004946.3(DOCK2):c.2448-17A>G	noncoding	Benign
5	169840780	G	A	G169840780A	DOCK2	NM_004946.3(DOCK2):c.2727G>A:p.Gln909=	coding	Benign
5	169983184	T	C	T169983184C	DOCK2	NM_004946.3(DOCK2):c.2898+18T>C	noncoding	Benign
5	170008709	A	C	A170008709C	DOCK2	NM_004946.3(DOCK2):c.3195A>C:p.Leu1065=	coding	Benign
5	170027937	C	G	C170027937G	DOCK2	NM_004946.3(DOCK2):c.3456C>G:p.Leu1152=	coding	Benign
5	170034395	G	A	G170034395A	DOCK2	NM_004946.3(DOCK2):c.3468-4G>A	noncoding	Benign
5	170034543	C	T	C170034543T	DOCK2	NM_004946.3(DOCK2):c.3612C>T:p.Thr1204=	coding	Benign
5	170034571	G	A	G170034571A	DOCK2	NM_004946.3(DOCK2):c.3624+16G>A	noncoding	Benign
5	170045918	C	T	C170045918T	DOCK2	NM_004946.3(DOCK2):c.3966+13C>T	noncoding	Benign
5	170069231	G	A	G170069231A	DOCK2	NM_004946.3(DOCK2):c.4728+11G>A	noncoding	Benign
5	170076004	C	T	C170076004T	DOCK2	NM_004946.3(DOCK2):c.4786C>T:p.Arg1596Ter	coding	Pathogenic
5	170076076	C	T	C170076076T	DOCK2	NM_004946.3(DOCK2):c.4858C>T:p.Arg1620Ter	coding	Pathogenic
5	170077739	T	C	T170077739C	DOCK2	NM_004946.3(DOCK2):c.4896T>C:p.Arg1632=	coding	Benign
5	170081889	A	T	A170081889T	DOCK2	NM_004946.3(DOCK2):c.5335A>T:p.Thr1779Ser	coding	Benign
5	170082841	C	T	C170082841T	DOCK2	NM_004946.3(DOCK2):c.5476C>T:p.Leu1826=	coding	Benign
5	170105629	A	C	A170105629C	FOXI1	Single_allele	noncoding	Benign
5	170105647	G	A	G170105647A	FOXI1	Single_allele	noncoding	Benign
5	170106602	T	C	T170106602C	FOXI1	NM_012188.5(FOXI1):c.574+71T>C	noncoding	Benign
5	170106785	C	G	C170106785G	FOXI1	NM_012188.5(FOXI1):c.574+254C>G	noncoding	Benign
5	170107990	G	A	G170107990A	FOXI1	NM_012188.5(FOXI1):c.575-59G>A	noncoding	Benign
5	170108754	A	T	A170108754T	FOXI1	NM_012188.5(FOXI1):c.*143A>T	noncoding	Benign/Likely_benign
5	170261106	C	T	C170261106T	LCP2	NM_005565.5(LCP2):c.957+1G>A	noncoding	Pathogenic
5	170722713	G	A	G170722713A	KCNIP1	NM_014592.4(KCNIP1):c.328G>A:p.Asp110Asn	coding	Pathogenic
5	171387358	A	T	A171387358T	NPM1	NM_001355006.2(NPM1):c.-17+124A>T	noncoding	Benign
5	171388121	G	T	G171388121T	NPM1	NM_002520.7(NPM1):c.58+115G>T	noncoding	Benign
5	171392603	T	A	T171392603A	NPM1	NM_002520.7(NPM1):c.353-107T>A	noncoding	Benign
5	171392883	G	A	G171392883A	NPM1	NM_002520.7(NPM1):c.460-31G>A	noncoding	Benign
5	171393020	G	A	G171393020A	NPM1	NM_002520.7(NPM1):c.524+42G>A	noncoding	Benign
5	171400111	C	A	C171400111A	NPM1	NM_002520.7(NPM1):c.525-42C>A	noncoding	Benign
5	171400114	A	G	A171400114G	NPM1	NM_002520.7(NPM1):c.525-39A>G	noncoding	Benign
5	171400171	T	C	T171400171C	NPM1	NM_002520.7(NPM1):c.543T>C:p.Phe181=	coding	Benign
5	171405183	G	A	G171405183A	NPM1	NM_002520.7(NPM1):c.670-119G>A	noncoding	Benign
5	171405239	A	G	A171405239G	NPM1	NM_002520.7(NPM1):c.670-63A>G	noncoding	Benign
5	171405633	C	T	C171405633T	NPM1	NM_002520.7(NPM1):c.771+230C>T	noncoding	Benign
5	171410565	A	G	A171410565G	NPM1	NM_002520.7(NPM1):c.885A>G:p.Ter295=	coding	Pathogenic
5	172338980	C	T	C172338980T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.2125G>A:p.Ala709Thr	coding	Benign
5	172339400	T	A	T172339400A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1705A>T:p.Ile569Phe	coding	Benign
5	172339433	C	T	C172339433T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1672G>A:p.Gly558Ser	coding	Benign/Likely_benign
5	172339860	C	T	C172339860T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1245G>A:p.Gly415=	coding	Benign
5	172345883	G	A	G172345883A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1188+253C>T	noncoding	Benign
5	172345885	T	C	T172345885C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1188+251A>G	noncoding	Benign
5	172345947	C	G	C172345947G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1188+189G>C	noncoding	Benign
5	172346341	G	C	G172346341C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1063-80C>G	noncoding	Benign
5	172346463	T	A	T172346463A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1063-202A>T	noncoding	Benign
5	172346506	T	C	T172346506C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1063-245A>G	noncoding	Benign
5	172347359	T	C	T172347359C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1013-27A>G	noncoding	Benign
5	172350561	C	T	C172350561T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.814G>A:p.Ala272Thr	coding	Benign
5	172350930	C	A	C172350930A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.786-341G>T	noncoding	Benign
5	172353624	C	T	C172353624T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.785+264G>A	noncoding	Benign
5	172358635	G	A	G172358635A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.667+138C>T	noncoding	Benign
5	172358698	A	G	A172358698G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.667+75T>C	noncoding	Benign
5	172358893	T	C	T172358893C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.563-16A>G	noncoding	Benign
5	172359045	A	G	A172359045G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.563-168T>C	noncoding	Benign
5	172363118	G	A	G172363118A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.428-249C>T	noncoding	Benign
5	172373893	A	G	A172373893G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.402-78T>C	noncoding	Benign
5	172381762	C	T	C172381762T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.401+274G>A	noncoding	Benign
5	172381871	G	A	G172381871A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.401+165C>T	noncoding	Benign
5	172381926	C	T	C172381926T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.401+110G>A	noncoding	Benign
5	172382248	G	A	G172382248A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.310-121C>T	noncoding	Benign
5	172394667	T	C	T172394667C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.233-28A>G	noncoding	Benign
5	172394924	C	T	C172394924T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.233-285G>A	noncoding	Benign
5	172394925	G	A	G172394925A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.233-286C>T	noncoding	Benign
5	172406366	G	A	G172406366A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.157-14C>T	noncoding	Benign
5	172406468	C	T	C172406468T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.157-116G>A	noncoding	Benign
5	172422285	A	G	A172422285G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.156+131T>C	noncoding	Benign
5	172422477	G	A	G172422477A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.95C>T:p.Thr32Met	coding	Benign
5	172422649	A	C	A172422649C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.76-153T>G	noncoding	Benign
5	172422658	C	T	C172422658T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.76-162G>A	noncoding	Benign
5	172422771	G	A	G172422771A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.76-275C>T	noncoding	Benign
5	172454002	A	G	A172454002G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.75+276T>C	noncoding	Benign
5	173232273	C	G	C173232273G	NKX2-5	NM_004387.4(NKX2-5):c.*296G>C	noncoding	Benign
5	173232800	G	T	G173232800T	NKX2-5	NM_004387.4(NKX2-5):c.744C>A:p.Tyr248Ter	coding	Pathogenic
5	173233107	G	T	G173233107T	NKX2-5	NM_004387.4(NKX2-5):c.437C>A:p.Ser146Ter	coding	Pathogenic
5	173233532	T	A	T173233532A	NKX2-5	NM_004387.4(NKX2-5):c.335-323A>T	noncoding	Benign
5	173233891	C	G	C173233891G	NKX2-5	NM_004387.4(NKX2-5):c.335-682G>C	noncoding	Benign
5	173234904	C	T	C173234904T	NKX2-5	NM_004387.4(NKX2-5):c.180G>A:p.Glu60=	coding	Benign/Likely_benign
5	173235189	T	C	T173235189C	NKX2-5	NM_004387.4(NKX2-5):c.-106A>G	noncoding	Benign
5	173235491	T	C	T173235491C	NKX2-5	NC_000005.9:g.172662494T>C	noncoding	Benign
5	173235574	C	A	C173235574A	NKX2-5	Single_allele	noncoding	Benign
5	173613159	G	A	G173613159A	BOD1	NM_138369.3(BOD1):c.334C>T:p.Arg112Ter	coding	Pathogenic
5	174724413	G	A	G174724413A	MSX2	Single_allele	noncoding	Benign
5	174724464	G	A	G174724464A	MSX2	Single_allele	noncoding	Benign
5	174724708	G	A	G174724708A	MSX2	NM_002449.5(MSX2):c.49G>A:p.Gly17Ser	coding	Benign
5	174724776	C	T	C174724776T	MSX2	NM_002449.5(MSX2):c.117C>T:p.Arg39=	coding	Benign
5	174725097	G	A	G174725097A	MSX2	NM_002449.5(MSX2):c.379+59G>A	noncoding	Benign
5	174725106	C	T	C174725106T	MSX2	NM_002449.5(MSX2):c.379+68C>T	noncoding	Benign
5	174725107	C	T	C174725107T	MSX2	NM_002449.5(MSX2):c.379+69C>T	noncoding	Benign
5	174729111	T	A	T174729111A	MSX2	NM_002449.5(MSX2):c.380-48T>A	noncoding	Benign
5	174729236	C	T	C174729236T	MSX2	NM_002449.5(MSX2):c.457C>T:p.Gln153Ter	coding	Pathogenic
5	174729535	G	A	G174729535A	MSX2	NM_002449.5(MSX2):c.756G>A:p.Val252=	coding	Benign
5	176620760	G	A	G176620760A	SNCB	NM_003085.5(SNCB):c.*51C>T	noncoding	Benign
5	176620954	C	T	C176620954T	SNCB	NM_003085.5(SNCB):c.373-111G>A	noncoding	Benign
5	176626621	G	A	G176626621A	SNCB	NM_003085.5(SNCB):c.163+99C>T	noncoding	Benign
5	176626644	C	G	C176626644G	SNCB	NM_003085.5(SNCB):c.163+76G>C	noncoding	Benign
5	176629528	A	G	A176629528G	SNCB	NM_003085.5(SNCB):c.121+6T>C	noncoding	Benign
5	176629805	C	T	C176629805T	SNCB	NM_003085.5(SNCB):c.-9-142G>A	noncoding	Benign
5	176951573	G	T	G176951573T	UIMC1	NM_001199298.2(UIMC1):c.1344C>A:p.Thr448_Gln449=	coding	Benign
5	176955994	G	A	G176955994A	UIMC1	NM_001199298.2(UIMC1):c.1304C>T:p.Pro435Leu	coding	Benign
5	176969683	G	A	G176969683A	UIMC1	NM_001199298.2(UIMC1):c.381C>T:p.Ser127_Ala128=	coding	Benign
5	176975400	G	A	G176975400A	UIMC1	NM_001199298.2(UIMC1):c.228C>T:p.Ile76_Ala77=	coding	Benign
5	177089630	G	A	G177089630A	FGFR4	NM_213647.3(FGFR4):c.28G>A:p.Val10Ile	coding	Benign
5	177134112	T	C	T177134112C	NSD1	NM_022455.5(NSD1):c.-18+160T>C	noncoding	Benign
5	177135811	G	C	G177135811C	NSD1	NM_022455.5(NSD1):c.708G>C:p.Gln236His	coding	Benign/Likely_benign
5	177136014	C	A	C177136014A	NSD1	NM_022455.5(NSD1):c.911C>A:p.Ser304Ter	coding	Pathogenic
5	177203926	T	C	T177203926C	NSD1	NM_022455.5(NSD1):c.1064-194T>C	noncoding	Benign
5	177204088	C	G	C177204088G	NSD1	NM_022455.5(NSD1):c.1064-32C>G	noncoding	Benign
5	177204118	A	G	A177204118G	NSD1	NM_022455.5(NSD1):c.1064-2A>G	noncoding	Pathogenic
5	177204219	G	T	G177204219T	NSD1	NM_022455.5(NSD1):c.1163G>T:p.Gly388Val	coding	Pathogenic
5	177209717	C	T	C177209717T	NSD1	NM_022455.5(NSD1):c.1318C>T:p.Arg440Ter	coding	Pathogenic
5	177209973	G	A	G177209973A	NSD1	NM_022455.5(NSD1):c.1574G>A:p.Arg525Gln	coding	Benign/Likely_benign
5	177210181	T	C	T177210181C	NSD1	NM_022455.5(NSD1):c.1782T>C:p.Pro594_Glu595=	coding	Benign
5	177210227	C	T	C177210227T	NSD1	NM_022455.5(NSD1):c.1828C>T:p.Gln610Ter	coding	Pathogenic
5	177210826	G	A	G177210826A	NSD1	NM_022455.5(NSD1):c.2427G>A:p.Glu809_Cys810=	coding	Benign/Likely_benign
5	177210849	C	T	C177210849T	NSD1	NM_022455.5(NSD1):c.2450C>T:p.Ser817Phe	coding	Benign/Likely_benign
5	177211044	C	G	C177211044G	NSD1	NM_022455.5(NSD1):c.2645C>G:p.Ser882Ter	coding	Pathogenic
5	177211207	C	A	C177211207A	NSD1	NM_022455.5(NSD1):c.2808C>A:p.Tyr936Ter	coding	Pathogenic
5	177211260	A	C	A177211260C	NSD1	NM_022455.5(NSD1):c.2861A>C:p.Lys954Thr	coding	Benign
5	177211367	G	A	G177211367A	NSD1	NM_022455.5(NSD1):c.2968G>A:p.Glu990Lys	coding	Benign/Likely_benign
5	177211392	T	A	T177211392A	NSD1	NM_022455.5(NSD1):c.2993T>A:p.Leu998Ter	coding	Pathogenic
5	177211400	G	A	G177211400A	NSD1	NM_022455.5(NSD1):c.3001G>A:p.Asp1001Asn	coding	Benign
5	177211420	T	C	T177211420C	NSD1	NM_022455.5(NSD1):c.3021T>C:p.Ala1007_Ser1008=	coding	Benign/Likely_benign
5	177211508	C	T	C177211508T	NSD1	NM_022455.5(NSD1):c.3109C>T:p.Gln1037Ter	coding	Pathogenic
5	177211685	C	T	C177211685T	NSD1	NM_022455.5(NSD1):c.3286C>T:p.His1096Tyr	coding	Benign/Likely_benign
5	177211939	A	G	A177211939G	NSD1	NM_022455.5(NSD1):c.3540A>G:p.Lys1180_Glu1181=	coding	Benign
5	177212100	T	G	T177212100G	NSD1	NM_022455.5(NSD1):c.3701T>G:p.Leu1234Ter	coding	Pathogenic
5	177235573	T	A	T177235573A	NSD1	NM_022455.5(NSD1):c.3797-248T>A	noncoding	Benign
5	177238197	A	G	A177238197G	NSD1	NM_022455.5(NSD1):c.3922-40A>G	noncoding	Benign
5	177238300	C	T	C177238300T	NSD1	NM_022455.5(NSD1):c.3985C>T:p.Gln1329Ter	coding	Pathogenic
5	177238508	G	A	G177238508A	NSD1	NM_022455.5(NSD1):c.4192+1G>A	coding	Pathogenic
5	177238555	A	T	A177238555T	NSD1	NM_022455.5(NSD1):c.4192+48A>T	noncoding	Benign
5	177244253	C	G	C177244253G	NSD1	NM_022455.5(NSD1):c.4361C>G:p.Ser1454Ter	coding	Pathogenic
5	177244296	C	T	C177244296T	NSD1	NM_022455.5(NSD1):c.4378+26C>T	noncoding	Benign/Likely_benign
5	177246663	A	G	A177246663G	NSD1	NM_022455.5(NSD1):c.4379-15A>G	noncoding	Benign
5	177246772	G	A	G177246772A	NSD1	NM_022455.5(NSD1):c.4473G>A:p.Ser1491_Ser1492=	coding	Benign/Likely_benign
5	177248192	G	A	G177248192A	NSD1	NM_022455.5(NSD1):c.4509G>A:p.Met1503Ile	coding	Benign/Likely_benign
5	177248422	A	G	A177248422G	NSD1	NM_022455.5(NSD1):c.4641+98A>G	noncoding	Benign
5	177248530	G	C	G177248530C	NSD1	NM_022455.5(NSD1):c.4641+206G>C	noncoding	Benign
5	177251739	A	T	A177251739T	NSD1	NM_022455.5(NSD1):c.4651A>T:p.Lys1551Ter	coding	Pathogenic
5	177251743	T	A	T177251743A	NSD1	NM_022455.5(NSD1):c.4655T>A:p.Leu1552Ter	coding	Pathogenic
5	177251943	G	A	G177251943A	NSD1	NM_022455.5(NSD1):c.4765+90G>A	noncoding	Benign
5	177256755	C	T	C177256755T	NSD1	NM_022455.5(NSD1):c.4766-196C>T	noncoding	Benign
5	177256793	A	G	A177256793G	NSD1	NM_022455.5(NSD1):c.4766-158A>G	noncoding	Benign
5	177257134	A	G	A177257134G	NSD1	NM_022455.5(NSD1):c.4949A>G:p.Asn1650Ser	coding	Benign/Likely_benign
5	177257181	T	C	T177257181C	NSD1	NM_022455.5(NSD1):c.4966+30T>C	noncoding	Benign
5	177259829	T	G	T177259829G	NSD1	NM_022455.5(NSD1):c.4967-160T>G	noncoding	Benign
5	177260016	C	T	C177260016T	NSD1	NM_022455.5(NSD1):c.4994C>T:p.Pro1665Leu	coding	Pathogenic
5	177260149	G	A	G177260149A	NSD1	NM_022455.5(NSD1):c.5127G>A:p.Trp1709Ter	coding	Pathogenic
5	177267268	T	C	T177267268C	NSD1	NM_022455.5(NSD1):c.5147-294T>C	noncoding	Benign
5	177267480	T	A	T177267480A	NSD1	NM_022455.5(NSD1):c.5147-82T>A	noncoding	Benign
5	177267517	C	G	C177267517G	NSD1	NM_022455.5(NSD1):c.5147-45C>G	noncoding	Benign
5	177267605	T	G	T177267605G	NSD1	NM_022455.5(NSD1):c.5190T>G:p.His1730Gln	coding	Pathogenic
5	177267672	A	T	A177267672T	NSD1	NM_022455.5(NSD1):c.5257A>T:p.Lys1753Ter	coding	Pathogenic
5	177267831	T	G	T177267831G	NSD1	NM_022455.5(NSD1):c.5303+113T>G	noncoding	Benign
5	177269419	A	G	A177269419G	NSD1	NM_022455.5(NSD1):c.5304-183A>G	noncoding	Benign
5	177269605	G	A	G177269605A	NSD1	NM_022455.5(NSD1):c.5307G>A:p.Trp1769Ter	coding	Pathogenic
5	177269619	T	A	T177269619A	NSD1	NM_022455.5(NSD1):c.5321T>A:p.Ile1774Asn	coding	Pathogenic
5	177269743	C	G	C177269743G	NSD1	NM_022455.5(NSD1):c.5445C>G:p.Tyr1815Ter	coding	Pathogenic
5	177269808	G	A	G177269808A	NSD1	NM_022455.5(NSD1):c.5509+1G>A	coding	Pathogenic
5	177273525	G	A	G177273525A	NSD1	NM_022455.5(NSD1):c.5510-147G>A	noncoding	Benign
5	177273884	G	A	G177273884A	NSD1	NM_022455.5(NSD1):c.5622+100G>A	noncoding	Benign
5	177273971	C	T	C177273971T	NSD1	NM_022455.5(NSD1):c.5622+187C>T	noncoding	Benign
5	177280543	G	A	G177280543A	NSD1	NM_022455.5(NSD1):c.5623-22G>A	noncoding	Benign/Likely_benign
5	177280626	G	A	G177280626A	NSD1	NM_022455.5(NSD1):c.5684G>A:p.Cys1895Tyr	coding	Pathogenic
5	177280680	A	G	A177280680G	NSD1	NM_022455.5(NSD1):c.5738A>G:p.Asn1913Ser	coding	Pathogenic
5	177280797	G	A	G177280797A	NSD1	NM_022455.5(NSD1):c.5855G>A:p.Arg1952Gln	coding	Pathogenic
5	177280800	G	C	G177280800C	NSD1	NM_022455.5(NSD1):c.5858G>C:p.Gly1953Ala	coding	Pathogenic
5	177280860	A	G	A177280860G	NSD1	NM_022455.5(NSD1):c.5892+26A>G	noncoding	Benign
5	177282332	G	A	G177282332A	NSD1	NM_022455.5(NSD1):c.5893-133G>A	noncoding	Benign
5	177282539	A	G	A177282539G	NSD1	NM_022455.5(NSD1):c.5967A>G:p.Gln1989_Glu1990=	coding	Benign/Likely_benign
5	177283625	T	G	T177283625G	NSD1	NM_022455.5(NSD1):c.6010-162T>G	noncoding	Benign
5	177283683	G	A	G177283683A	NSD1	NM_022455.5(NSD1):c.6010-104G>A	noncoding	Benign
5	177283822	T	C	T177283822C	NSD1	NM_022455.5(NSD1):c.6045T>C:p.Tyr2015_Ala2016=	coding	Benign/Likely_benign
5	177283902	T	G	T177283902G	NSD1	NM_022455.5(NSD1):c.6125T>G:p.Leu2042Arg	coding	Pathogenic
5	177288972	C	G	C177288972G	NSD1	NM_022455.5(NSD1):c.6258+47C>G	noncoding	Benign
5	177292036	C	G	C177292036G	NSD1	NM_022455.5(NSD1):c.6341C>G:p.Thr2114Arg	coding	Benign
5	177292354	G	A	G177292354A	NSD1	NM_022455.5(NSD1):c.6463+196G>A	noncoding	Benign
5	177293534	G	C	G177293534C	NSD1	NM_022455.5(NSD1):c.6464-298G>C	noncoding	Benign
5	177293765	A	G	A177293765G	NSD1	NM_022455.5(NSD1):c.6464-67A>G	noncoding	Benign
5	177293812	A	G	A177293812G	NSD1	NM_022455.5(NSD1):c.6464-20A>G	noncoding	Benign
5	177293843	T	A	T177293843A	NSD1	NM_022455.5(NSD1):c.6475T>A:p.Cys2159Ser	coding	Pathogenic
5	177293925	A	G	A177293925G	NSD1	NM_022455.5(NSD1):c.6557A>G:p.His2186Arg	coding	Pathogenic/Likely_pathogenic
5	177294425	C	T	C177294425T	NSD1	NM_022455.5(NSD1):c.7057C>T:p.Pro2353Ser	coding	Benign
5	177294513	C	T	C177294513T	NSD1	NM_022455.5(NSD1):c.7145C>T:p.Thr2382Ile	coding	Benign/Likely_benign
5	177295220	G	A	G177295220A	NSD1	NM_022455.5(NSD1):c.7852G>A:p.Val2618Ile	coding	Benign
5	177295356	G	A	G177295356A	NSD1	NM_022455.5(NSD1):c.7988G>A:p.Trp2663Ter	coding	Pathogenic
5	177357511	G	A	G177357511A	RGS14	Single_allele	noncoding	Benign
5	177385879	T	C	T177385879C	SLC34A1	NM_003052.5(SLC34A1):c.109+29T>C	noncoding	Benign
5	177385881	G	C	G177385881C	SLC34A1	NM_003052.5(SLC34A1):c.109+31G>C	noncoding	Benign
5	177385907	A	G	A177385907G	SLC34A1	NM_003052.5(SLC34A1):c.109+57A>G	noncoding	Benign
5	177386121	G	T	G177386121T	SLC34A1	NM_003052.5(SLC34A1):c.244G>T:p.Glu82Ter	coding	Pathogenic
5	177386403	C	T	C177386403T	SLC34A1	NM_003052.5(SLC34A1):c.389-20C>T	noncoding	Benign
5	177386768	A	G	A177386768G	SLC34A1	NM_003052.5(SLC34A1):c.532+202A>G	noncoding	Benign
5	177387655	G	A	G177387655A	SLC34A1	NM_003052.5(SLC34A1):c.533-107G>A	noncoding	Benign
5	177394236	G	T	G177394236T	SLC34A1	NM_003052.5(SLC34A1):c.1174+41G>T	noncoding	Benign
5	177394374	C	T	C177394374T	SLC34A1	NM_003052.5(SLC34A1):c.1174+179C>T	noncoding	Benign
5	177394448	A	C	A177394448C	SLC34A1	NM_003052.5(SLC34A1):c.1174+253A>C	noncoding	Benign
5	177397136	C	G	C177397136G	SLC34A1	NM_003052.5(SLC34A1):c.1416+62C>G	noncoding	Benign
5	177402460	C	G	C177402460G	F12	NM_000505.4(F12):c.1681-1G>C	coding	Pathogenic
5	177403432	G	A	G177403432A	F12	NM_000505.4(F12):c.1388-35C>T	noncoding	Benign
5	177404118	A	G	A177404118G	F12	NM_000505.4(F12):c.1019-28T>C	noncoding	Benign
5	177404979	T	C	T177404979C	F12	NM_000505.4(F12):c.530-65A>G	noncoding	Benign
5	177405031	C	T	C177405031T	F12	NM_000505.4(F12):c.529+23G>A	noncoding	Benign
5	177406255	A	G	A177406255G	F12	NM_000505.4(F12):c.116-194T>C	noncoding	Benign
5	177406302	T	C	T177406302C	F12	NM_000505.4(F12):c.116-241A>G	noncoding	Benign
5	177406316	C	A	C177406316A	F12	NM_000505.4(F12):c.116-255G>T	noncoding	Benign
5	177409283	G	C	G177409283C	F12	NM_000505.4(F12):c.58-180C>G	noncoding	Benign
5	177409301	A	G	A177409301G	F12	NM_000505.4(F12):c.57+170T>C	noncoding	Benign
5	177511788	G	A	G177511788A	DDX41	NM_016222.4(DDX41):c.*3C>T	noncoding	Benign/Likely_benign
5	177512050	T	C	T177512050C	DDX41	NM_016222.4(DDX41):c.1732+46A>G	noncoding	Benign
5	177512211	G	C	G177512211C	DDX41	NM_016222.4(DDX41):c.1622-5C>G	noncoding	Benign
5	177512226	G	C	G177512226C	DDX41	NM_016222.4(DDX41):c.1622-20C>G	noncoding	Benign
5	177512317	C	A	C177512317A	DDX41	NM_016222.4(DDX41):c.1621+5G>T	noncoding	Pathogenic
5	177512687	C	T	C177512687T	DDX41	NM_016222.4(DDX41):c.1400-42G>A	noncoding	Benign
5	177512734	A	G	A177512734G	DDX41	NM_016222.4(DDX41):c.1399+46T>C	noncoding	Benign
5	177512825	G	A	G177512825A	DDX41	NM_016222.4(DDX41):c.1354C>T:p.Leu452=	coding	Benign/Likely_benign
5	177513028	G	A	G177513028A	DDX41	NM_016222.4(DDX41):c.1285C>T:p.Gln429Ter	coding	Pathogenic
5	177513273	C	T	C177513273T	DDX41	NM_016222.4(DDX41):c.1230+80G>A	noncoding	Benign
5	177513383	G	A	G177513383A	DDX41	NM_016222.4(DDX41):c.1200C>T:p.Arg400=	coding	Benign
5	177513442	T	A	T177513442A	DDX41	NM_016222.4(DDX41):c.1141A>T:p.Lys381Ter	coding	Pathogenic
5	177513475	G	A	G177513475A	DDX41	NM_016222.4(DDX41):c.1108C>T:p.Gln370Ter	coding	Pathogenic
5	177514057	C	T	C177514057T	DDX41	NM_016222.4(DDX41):c.936-210G>A	noncoding	Benign
5	177514381	G	A	G177514381A	DDX41	NM_016222.4(DDX41):c.935+320C>T	noncoding	Benign
5	177514426	A	G	A177514426G	DDX41	NM_016222.4(DDX41):c.935+275T>C	noncoding	Benign
5	177514720	G	A	G177514720A	DDX41	NM_016222.4(DDX41):c.916C>T:p.Gln306Ter	coding	Pathogenic
5	177514973	C	T	C177514973T	DDX41	NM_016222.4(DDX41):c.741G>A:p.Glu247=	coding	Benign
5	177515781	G	A	G177515781A	DDX41	NM_016222.4(DDX41):c.475C>T:p.Arg159Ter	coding	Pathogenic
5	177516444	G	A	G177516444A	DDX41	NM_016222.4(DDX41):c.142C>T:p.Gln48Ter	coding	Pathogenic
5	177516672	C	T	C177516672T	DDX41	NM_016222.4(DDX41):c.138+53G>A	noncoding	Benign
5	177516742	G	A	G177516742A	DDX41	NM_016222.4(DDX41):c.121C>T:p.Gln41Ter	coding	Pathogenic
5	177516903	C	G	C177516903G	DDX41	NM_016222.4(DDX41):c.27+16G>C	noncoding	Benign
5	177516945	T	G	T177516945G	DDX41	NM_016222.4(DDX41):c.1A>C:p.Met1Leu	coding	Pathogenic
5	177600109	C	T	C177600109T	B4GALT7	Single_allele	noncoding	Benign
5	177600404	T	C	T177600404C	B4GALT7	NM_007255.3(B4GALT7):c.50+144T>C	noncoding	Benign
5	177604165	C	T	C177604165T	B4GALT7	NM_007255.3(B4GALT7):c.51-14C>T	noncoding	Benign
5	177607152	C	T	C177607152T	B4GALT7	NM_007255.3(B4GALT7):c.414-150C>T	noncoding	Benign
5	177607309	C	T	C177607309T	B4GALT7	NM_007255.3(B4GALT7):c.421C>T:p.Arg141Trp	coding	Pathogenic/Likely_pathogenic
5	177608310	C	T	C177608310T	B4GALT7	NM_007255.3(B4GALT7):c.640-229C>T	noncoding	Benign
5	177608351	C	T	C177608351T	B4GALT7	NM_007255.3(B4GALT7):c.640-188C>T	noncoding	Benign
5	177608448	T	C	T177608448C	B4GALT7	NM_007255.3(B4GALT7):c.640-91T>C	noncoding	Benign
5	177608641	C	T	C177608641T	B4GALT7	NM_007255.3(B4GALT7):c.723+19C>T	noncoding	Benign/Likely_benign
5	177608642	G	A	G177608642A	B4GALT7	NM_007255.3(B4GALT7):c.723+20G>A	noncoding	Benign/Likely_benign
5	177609230	T	C	T177609230C	B4GALT7	NM_007255.3(B4GALT7):c.828+216T>C	noncoding	Benign
5	177609253	C	G	C177609253G	B4GALT7	NM_007255.3(B4GALT7):c.828+239C>G	noncoding	Benign
5	177609255	G	A	G177609255A	B4GALT7	NM_007255.3(B4GALT7):c.828+241G>A	noncoding	Benign
5	177992919	G	C	G177992919C	PROP1	NM_006261.5(PROP1):c.471C>G:p.Tyr157Ter	coding	Pathogenic
5	177993032	G	A	G177993032A	PROP1	NM_006261.5(PROP1):c.358C>T:p.Arg120Cys	coding	Pathogenic/Likely_pathogenic
5	177993038	G	A	G177993038A	PROP1	NM_006261.5(PROP1):c.352C>T:p.Gln118Ter	coding	Pathogenic
5	177993964	A	G	A177993964G	PROP1	NM_006261.5(PROP1):c.342+142T>C	noncoding	Benign
5	177994108	G	A	G177994108A	PROP1	NM_006261.5(PROP1):c.340C>T:p.Gln114Ter	coding	Pathogenic/Likely_pathogenic
5	177994114	G	A	G177994114A	PROP1	NM_006261.5(PROP1):c.334C>T:p.Arg112Ter	coding	Pathogenic/Likely_pathogenic
5	177994396	C	G	C177994396G	PROP1	NM_006261.5(PROP1):c.110-58G>C	noncoding	Benign
5	177995390	C	T	C177995390T	PROP1	NM_006261.5(PROP1):c.109+435G>A	noncoding	Benign
5	177995535	G	C	G177995535C	PROP1	NM_006261.5(PROP1):c.109+290C>G	noncoding	Benign
5	177995602	A	G	A177995602G	PROP1	NM_006261.5(PROP1):c.109+223T>C	noncoding	Benign
5	177995814	C	T	C177995814T	PROP1	NM_006261.5(PROP1):c.109+11G>A	noncoding	Benign
5	177995824	C	G	C177995824G	PROP1	NM_006261.5(PROP1):c.109+1G>C	noncoding	Pathogenic
5	177995875	T	C	T177995875C	PROP1	NM_006261.5(PROP1):c.59A>G:p.Asn20Ser	coding	Benign
5	177995888	G	A	G177995888A	PROP1	NM_006261.5(PROP1):c.46C>T:p.Arg16Ter	coding	Pathogenic/Likely_pathogenic
5	177996280	C	A	C177996280A	PROP1	Single_allele	noncoding	Benign
5	178149702	A	T	A178149702T	NHP2	NM_017838.4(NHP2):c.*11T>A	noncoding	Benign/Likely_benign
5	178149852	A	G	A178149852G	NHP2	NM_017838.4(NHP2):c.337-14T>C	noncoding	Benign
5	178150137	T	C	T178150137C	NHP2	NM_017838.4(NHP2):c.337-299A>G	noncoding	Benign
5	178153647	G	A	G178153647A	NHP2	NM_017838.4(NHP2):c.160+11C>T	noncoding	Benign/Likely_benign
5	178981834	C	T	C178981834T	GRM6	NM_000843.4(GRM6):c.2457G>A:p.Thr819=	coding	Benign
5	178981860	C	T	C178981860T	GRM6	NM_000843.4(GRM6):c.2437-6G>A	noncoding	Benign
5	178982684	G	A	G178982684A	GRM6	NM_000843.4(GRM6):c.2436+226C>T	noncoding	Benign
5	178982826	C	T	C178982826T	GRM6	NM_000843.4(GRM6):c.2436+84G>A	noncoding	Benign
5	178982855	C	T	C178982855T	GRM6	NM_000843.4(GRM6):c.2436+55G>A	noncoding	Benign
5	178982864	T	G	T178982864G	GRM6	NM_000843.4(GRM6):c.2436+46A>C	noncoding	Benign
5	178982926	G	A	G178982926A	GRM6	NM_000843.4(GRM6):c.2420C>T:p.Ala807Val	coding	Benign
5	178982949	G	A	G178982949A	GRM6	NM_000843.4(GRM6):c.2397C>T:p.Phe799=	coding	Benign
5	178983150	C	T	C178983150T	GRM6	NM_000843.4(GRM6):c.2196G>A:p.Thr732=	coding	Benign
5	178983176	C	T	C178983176T	GRM6	NM_000843.4(GRM6):c.2170G>A:p.Val724Met	coding	Benign
5	178983212	T	C	T178983212C	GRM6	NM_000843.4(GRM6):c.2134A>G:p.Met712Val	coding	Benign
5	178983233	A	G	A178983233G	GRM6	NM_000843.4(GRM6):c.2125-12T>C	noncoding	Benign
5	178983436	G	A	G178983436A	GRM6	NM_000843.4(GRM6):c.2125-215C>T	noncoding	Benign
5	178983468	G	A	G178983468A	GRM6	NM_000843.4(GRM6):c.2125-247C>T	noncoding	Benign
5	178983518	T	G	T178983518G	GRM6	NM_000843.4(GRM6):c.2125-297A>C	noncoding	Benign
5	178985909	G	A	G178985909A	GRM6	NM_000843.4(GRM6):c.2124+221C>T	noncoding	Benign
5	178986121	C	T	C178986121T	GRM6	NM_000843.4(GRM6):c.2124+9G>A	noncoding	Benign
5	178986251	A	G	A178986251G	GRM6	NM_000843.4(GRM6):c.2003T>C:p.Leu668Pro	coding	Pathogenic
5	178986390	C	A	C178986390A	GRM6	NM_000843.4(GRM6):c.1864G>T:p.Glu622Ter	coding	Pathogenic
5	178986429	G	A	G178986429A	GRM6	NM_000843.4(GRM6):c.1825C>T:p.Arg609Trp	coding	Benign
5	178986451	G	A	G178986451A	GRM6	NM_000843.4(GRM6):c.1803C>T:p.Thr601=	coding	Benign
5	178986622	G	A	G178986622A	GRM6	NM_000843.4(GRM6):c.1632C>T:p.Asp544=	coding	Benign
5	178986705	G	A	G178986705A	GRM6	NM_000843.4(GRM6):c.1549C>T:p.Leu517=	coding	Benign
5	178986815	T	C	T178986815C	GRM6	NM_000843.4(GRM6):c.1500+23A>G	noncoding	Benign
5	178986940	C	T	C178986940T	GRM6	NM_000843.4(GRM6):c.1398G>A:p.Ala466=	coding	Benign
5	178986955	G	A	G178986955A	GRM6	NM_000843.4(GRM6):c.1383C>T:p.Asn461=	coding	Benign
5	178986979	G	A	G178986979A	GRM6	NM_000843.4(GRM6):c.1359C>T:p.Ser453=	coding	Benign
5	178986998	C	T	C178986998T	GRM6	NM_000843.4(GRM6):c.1355-15G>A	noncoding	Benign
5	178988875	C	T	C178988875T	GRM6	NM_000843.4(GRM6):c.1354+60G>A	noncoding	Benign
5	178988953	G	A	G178988953A	GRM6	NM_000843.4(GRM6):c.1336C>T:p.Arg446Ter	coding	Pathogenic
5	178989149	G	A	G178989149A	GRM6	NM_000843.4(GRM6):c.1154-14C>T	noncoding	Benign
5	178989347	G	A	G178989347A	GRM6	NM_000843.4(GRM6):c.1071C>T:p.Phe357=	coding	Benign
5	178989382	G	A	G178989382A	GRM6	NM_000843.4(GRM6):c.1036C>T:p.Arg346Ter	coding	Pathogenic
5	178989496	G	A	G178989496A	GRM6	NM_000843.4(GRM6):c.1013-91C>T	noncoding	Benign
5	178990287	A	G	A178990287G	GRM6	NM_000843.4(GRM6):c.1012+305T>C	noncoding	Benign
5	178991214	C	G	C178991214G	GRM6	NM_000843.4(GRM6):c.857+210G>C	noncoding	Benign
5	178991560	C	A	C178991560A	GRM6	NM_000843.4(GRM6):c.722-1G>T	coding	Pathogenic
5	178991563	G	A	G178991563A	GRM6	NM_000843.4(GRM6):c.722-4C>T	noncoding	Benign
5	178991847	C	T	C178991847T	GRM6	NM_000843.4(GRM6):c.721+20G>A	noncoding	Benign
5	178992287	C	T	C178992287T	GRM6	NM_000843.4(GRM6):c.505-204G>A	noncoding	Benign
5	178994156	A	T	A178994156T	GRM6	NM_000843.4(GRM6):c.504+285T>A	noncoding	Benign
5	178994268	G	T	G178994268T	GRM6	NM_000843.4(GRM6):c.504+173C>A	noncoding	Benign
5	178994350	T	C	T178994350C	GRM6	NM_000843.4(GRM6):c.504+91A>G	noncoding	Benign
5	178994431	C	A	C178994431A	GRM6	NM_000843.4(GRM6):c.504+10G>T	noncoding	Benign
5	178994723	G	C	G178994723C	GRM6	NM_000843.4(GRM6):c.222C>G:p.Tyr74Ter	coding	Pathogenic
5	178994723	G	T	G178994723T	GRM6	NM_000843.4(GRM6):c.222C>A:p.Tyr74Ter	coding	Pathogenic
5	178994737	C	A	C178994737A	GRM6	NM_000843.4(GRM6):c.208G>T:p.Glu70Ter	coding	Pathogenic
5	178994807	C	T	C178994807T	GRM6	NM_000843.4(GRM6):c.138G>A:p.Pro46=	coding	Benign
5	178994858	C	G	C178994858G	GRM6	NM_000843.4(GRM6):c.87G>C:p.Ala29=	coding	Benign
5	178994942	C	A	C178994942A	GRM6	NM_000843.4(GRM6):c.3G>T:p.Met1Ile	coding	Pathogenic
5	178995082	C	T	C178995082T	GRM6	NM_000843.4(GRM6):c.-16-122G>A	noncoding	Benign
5	178995454	C	T	C178995454T	GRM6	Single_allele	noncoding	Benign
5	179121513	G	C	G179121513C	ADAMTS2	NM_014244.5(ADAMTS2):c.3178+148C>G	noncoding	Benign
5	179124953	G	A	G179124953A	ADAMTS2	NM_014244.5(ADAMTS2):c.2958+20C>T	noncoding	Benign/Likely_benign
5	179124993	G	A	G179124993A	ADAMTS2	NM_014244.5(ADAMTS2):c.2938C>T:p.Arg980Ter	coding	Pathogenic
5	179125743	G	A	G179125743A	ADAMTS2	NM_014244.5(ADAMTS2):c.2750+255C>T	noncoding	Benign
5	179125898	C	T	C179125898T	ADAMTS2	NM_014244.5(ADAMTS2):c.2750+100G>A	noncoding	Benign
5	179125955	T	C	T179125955C	ADAMTS2	NM_014244.5(ADAMTS2):c.2750+43A>G	noncoding	Benign
5	179126032	T	A	T179126032A	ADAMTS2	NM_014244.5(ADAMTS2):c.2716A>T:p.Arg906Ter	coding	Pathogenic
5	179126184	G	A	G179126184A	ADAMTS2	NM_014244.5(ADAMTS2):c.2618-54C>T	noncoding	Benign
5	179126340	T	C	T179126340C	ADAMTS2	NM_014244.5(ADAMTS2):c.2618-210A>G	noncoding	Benign
5	179128392	T	G	T179128392G	ADAMTS2	NM_014244.5(ADAMTS2):c.2458-274A>C	noncoding	Benign
5	179130141	A	G	A179130141G	ADAMTS2	NM_014244.5(ADAMTS2):c.2291-43T>C	noncoding	Benign
5	179130291	C	T	C179130291T	ADAMTS2	NM_014244.5(ADAMTS2):c.2291-193G>A	noncoding	Benign
5	179132410	C	G	C179132410G	ADAMTS2	NM_014244.5(ADAMTS2):c.2210-100G>C	noncoding	Benign
5	179132564	C	G	C179132564G	ADAMTS2	NM_014244.5(ADAMTS2):c.2209+213G>C	noncoding	Benign
5	179133171	A	C	A179133171C	ADAMTS2	NM_014244.5(ADAMTS2):c.2086-271T>G	noncoding	Benign
5	179135833	C	T	C179135833T	ADAMTS2	NM_014244.5(ADAMTS2):c.2085+76G>A	noncoding	Benign
5	179136124	A	T	A179136124T	ADAMTS2	NM_014244.5(ADAMTS2):c.1952-82T>A	noncoding	Benign
5	179137970	C	T	C179137970T	ADAMTS2	NM_014244.5(ADAMTS2):c.1776-26G>A	noncoding	Benign
5	179138000	C	T	C179138000T	ADAMTS2	NM_014244.5(ADAMTS2):c.1776-56G>A	noncoding	Benign
5	179138051	C	T	C179138051T	ADAMTS2	NM_014244.5(ADAMTS2):c.1776-107G>A	noncoding	Benign
5	179138120	T	C	T179138120C	ADAMTS2	NM_014244.5(ADAMTS2):c.1776-176A>G	noncoding	Benign
5	179140081	C	T	C179140081T	ADAMTS2	NM_014244.5(ADAMTS2):c.1630-46G>A	noncoding	Benign
5	179152118	C	G	C179152118G	ADAMTS2	NM_014244.5(ADAMTS2):c.1629+24G>C	noncoding	Benign
5	179152375	C	T	C179152375T	ADAMTS2	NM_014244.5(ADAMTS2):c.1516-120G>A	noncoding	Benign
5	179153518	G	A	G179153518A	ADAMTS2	NM_014244.5(ADAMTS2):c.1488C>T:p.Phe496=	coding	Benign/Likely_benign
5	179153639	G	A	G179153639A	ADAMTS2	NM_014244.5(ADAMTS2):c.1383-16C>T	noncoding	Benign/Likely_benign
5	179154976	G	A	G179154976A	ADAMTS2	NM_014244.5(ADAMTS2):c.1133-57C>T	noncoding	Benign
5	179158588	C	T	C179158588T	ADAMTS2	NM_014244.5(ADAMTS2):c.1132+135G>A	noncoding	Benign
5	179180921	A	T	A179180921T	ADAMTS2	NM_014244.5(ADAMTS2):c.975+151T>A	noncoding	Benign
5	179180998	A	G	A179180998G	ADAMTS2	NM_014244.5(ADAMTS2):c.975+74T>C	noncoding	Benign
5	179181403	T	A	T179181403A	ADAMTS2	NM_014244.5(ADAMTS2):c.892-248A>T	noncoding	Benign
5	179207485	A	C	A179207485C	ADAMTS2	NM_014244.5(ADAMTS2):c.891+28T>G	noncoding	Benign
5	179207733	C	T	C179207733T	ADAMTS2	NM_014244.5(ADAMTS2):c.689-18G>A	noncoding	Benign/Likely_benign
5	179207734	G	A	G179207734A	ADAMTS2	NM_014244.5(ADAMTS2):c.689-19C>T	noncoding	Benign/Likely_benign
5	179207787	T	C	T179207787C	ADAMTS2	NM_014244.5(ADAMTS2):c.689-72A>G	noncoding	Benign
5	179273242	C	T	C179273242T	ADAMTS2	NM_014244.5(ADAMTS2):c.535-178G>A	noncoding	Benign
5	179273245	C	T	C179273245T	ADAMTS2	NM_014244.5(ADAMTS2):c.535-181G>A	noncoding	Benign
5	179343552	T	C	T179343552C	ADAMTS2	NM_014244.5(ADAMTS2):c.534+215A>G	noncoding	Benign
5	179344074	G	T	G179344074T	ADAMTS2	NM_014244.5(ADAMTS2):c.227C>A:p.Ser76Ter	coding	Pathogenic
5	179618141	G	A	G179618141A	HNRNPH1	NM_001257293.2(HNRNPH1):c.715+4C>T	noncoding	Benign
5	179618243	C	T	C179618243T	HNRNPH1	NM_001257293.2(HNRNPH1):c.617G>A:p.Arg206Gln	coding	Pathogenic
5	179618244	G	A	G179618244A	HNRNPH1	NM_001257293.2(HNRNPH1):c.616C>T:p.Arg206Trp	coding	Pathogenic/Likely_pathogenic
5	179820747	G	A	G179820747A	SQSTM1	NM_001142298.2(SQSTM1):c.-47-2211G>A	noncoding	Benign
5	179821257	G	A	G179821257A	SQSTM1	NM_003900.5(SQSTM1):c.205+116G>A	noncoding	Benign
5	179822827	T	C	T179822827C	SQSTM1	NM_003900.5(SQSTM1):c.206-131T>C	noncoding	Benign
5	179822974	G	A	G179822974A	SQSTM1	NM_003900.5(SQSTM1):c.222G>A:p.Leu74=	coding	Benign
5	179822996	G	T	G179822996T	SQSTM1	NM_003900.5(SQSTM1):c.244G>T:p.Glu82Ter	coding	Pathogenic
5	179823038	C	T	C179823038T	SQSTM1	NM_003900.5(SQSTM1):c.286C>T:p.Arg96Ter	coding	Pathogenic
5	179823054	G	T	G179823054T	SQSTM1	NM_003900.5(SQSTM1):c.301+1G>T	coding	Pathogenic
5	179823055	T	A	T179823055A	SQSTM1	NM_003900.5(SQSTM1):c.301+2T>A	noncoding	Pathogenic
5	179823065	C	G	C179823065G	SQSTM1	NM_003900.5(SQSTM1):c.301+12C>G	noncoding	Benign/Likely_benign
5	179823130	C	T	C179823130T	SQSTM1	NM_003900.5(SQSTM1):c.301+77C>T	noncoding	Benign
5	179823800	C	T	C179823800T	SQSTM1	NM_003900.5(SQSTM1):c.302-58C>T	noncoding	Benign
5	179824159	C	T	C179824159T	SQSTM1	NM_003900.5(SQSTM1):c.532-23C>T	noncoding	Benign
5	179824475	T	G	T179824475G	SQSTM1	NM_003900.5(SQSTM1):c.673+152T>G	noncoding	Benign
5	179824480	T	A	T179824480A	SQSTM1	NM_003900.5(SQSTM1):c.673+157T>A	noncoding	Benign
5	179824490	C	G	C179824490G	SQSTM1	NM_003900.5(SQSTM1):c.673+167C>G	noncoding	Benign
5	179824600	G	A	G179824600A	SQSTM1	NM_003900.5(SQSTM1):c.673+277G>A	noncoding	Benign
5	179825052	G	A	G179825052A	SQSTM1	NM_003900.5(SQSTM1):c.674-94G>A	noncoding	Benign
5	179825075	A	G	A179825075G	SQSTM1	NM_003900.5(SQSTM1):c.674-71A>G	noncoding	Benign
5	179832835	T	C	T179832835C	SQSTM1	NM_003900.5(SQSTM1):c.755-197T>C	noncoding	Benign
5	179832842	G	C	G179832842C	SQSTM1	NM_003900.5(SQSTM1):c.755-190G>C	noncoding	Benign
5	179833009	G	A	G179833009A	SQSTM1	NM_003900.5(SQSTM1):c.755-23G>A	noncoding	Benign
5	179833066	G	A	G179833066A	SQSTM1	NM_003900.5(SQSTM1):c.789G>A:p.Gly263=	coding	Benign
5	179833223	T	C	T179833223C	SQSTM1	NM_003900.5(SQSTM1):c.946T>C:p.Leu316=	coding	Benign
5	179833266	G	A	G179833266A	SQSTM1	NM_003900.5(SQSTM1):c.969+20G>A	noncoding	Benign
5	179833331	C	G	C179833331G	SQSTM1	NM_003900.5(SQSTM1):c.969+85C>G	noncoding	Benign
5	179833478	C	G	C179833478G	SQSTM1	NM_003900.5(SQSTM1):c.970-109C>G	noncoding	Benign
5	179833494	G	A	G179833494A	SQSTM1	NM_003900.5(SQSTM1):c.970-93G>A	noncoding	Benign
5	179833509	C	T	C179833509T	SQSTM1	NM_003900.5(SQSTM1):c.970-78C>T	noncoding	Benign
5	179833782	G	C	G179833782C	SQSTM1	NM_003900.5(SQSTM1):c.1165G>C:p.Glu389Gln	coding	Pathogenic
5	179833895	C	A	C179833895A	SQSTM1	NM_003900.5(SQSTM1):c.1165+113C>A	noncoding	Benign
5	179833959	G	A	G179833959A	SQSTM1	NM_003900.5(SQSTM1):c.1165+177G>A	noncoding	Benign
5	179834001	G	A	G179834001A	SQSTM1	NM_003900.5(SQSTM1):c.1165+219G>A	noncoding	Benign
5	179834027	A	G	A179834027G	SQSTM1	NM_003900.5(SQSTM1):c.1165+245A>G	noncoding	Benign
5	179834060	C	T	C179834060T	SQSTM1	NM_003900.5(SQSTM1):c.1165+278C>T	noncoding	Benign
5	179836480	A	G	A179836480G	SQSTM1	NM_003900.5(SQSTM1):c.1210A>G:p.Met404Val	coding	Pathogenic
5	179836501	G	A	G179836501A	SQSTM1	NM_003900.5(SQSTM1):c.1231G>A:p.Gly411Ser	coding	Pathogenic
5	180603132	C	T	C180603132T	FLT4	NM_182925.5(FLT4):c.*60G>A	noncoding	Benign
5	180603278	C	T	C180603278T	FLT4	NM_182925.5(FLT4):c.4006G>A:p.Glu1336Lys	coding	Benign/Likely_benign
5	180603322	C	T	C180603322T	FLT4	NM_182925.5(FLT4):c.3962G>A:p.Arg1321Gln	coding	Benign/Likely_benign
5	180608792	C	T	C180608792T	FLT4	NM_182925.5(FLT4):c.3893+176G>A	noncoding	Benign
5	180609239	G	A	G180609239A	FLT4	NM_182925.5(FLT4):c.3808-186C>T	noncoding	Benign
5	180609318	A	G	A180609318G	FLT4	NM_182925.5(FLT4):c.3808-265T>C	noncoding	Benign
5	180610317	C	T	C180610317T	FLT4	NM_182925.5(FLT4):c.3687-292G>A	noncoding	Benign
5	180611545	A	G	A180611545G	FLT4	NM_182925.5(FLT4):c.3538-66T>C	noncoding	Benign
5	180611696	C	T	C180611696T	FLT4	NM_182925.5(FLT4):c.3538-217G>A	noncoding	Benign
5	180611711	C	T	C180611711T	FLT4	NM_182925.5(FLT4):c.3538-232G>A	noncoding	Benign
5	180612187	A	G	A180612187G	FLT4	NM_182925.5(FLT4):c.3537+319T>C	noncoding	Benign
5	180613740	T	C	T180613740C	FLT4	NM_182925.5(FLT4):c.3331+328A>G	noncoding	Benign
5	180613918	G	A	G180613918A	FLT4	NM_182925.5(FLT4):c.3331+150C>T	noncoding	Benign
5	180614001	G	C	G180614001C	FLT4	NM_182925.5(FLT4):c.3331+67C>G	noncoding	Benign
5	180614008	T	C	T180614008C	FLT4	NM_182925.5(FLT4):c.3331+60A>G	noncoding	Benign
5	180614242	T	C	T180614242C	FLT4	NM_182925.5(FLT4):c.3220-63A>G	noncoding	Benign
5	180614274	T	C	T180614274C	FLT4	NM_182925.5(FLT4):c.3220-95A>G	noncoding	Benign
5	180614316	A	G	A180614316G	FLT4	NM_182925.5(FLT4):c.3220-137T>C	noncoding	Benign
5	180614491	C	T	C180614491T	FLT4	NM_182925.5(FLT4):c.3220-312G>A	noncoding	Benign
5	180616731	C	A	C180616731A	FLT4	NM_182925.5(FLT4):c.3096+169G>T	noncoding	Benign
5	180619636	G	C	G180619636C	FLT4	NM_182925.5(FLT4):c.2647+29C>G	noncoding	Benign
5	180619839	G	A	G180619839A	FLT4	NM_182925.5(FLT4):c.2543-70C>T	noncoding	Benign
5	180619885	G	A	G180619885A	FLT4	NM_182925.5(FLT4):c.2543-116C>T	noncoding	Benign
5	180619934	G	T	G180619934T	FLT4	NM_182925.5(FLT4):c.2543-165C>A	noncoding	Benign
5	180620412	T	C	T180620412C	FLT4	NM_182925.5(FLT4):c.2407-104A>G	noncoding	Benign
5	180620793	G	C	G180620793C	FLT4	NM_182925.5(FLT4):c.2300-78C>G	noncoding	Benign
5	180621316	C	G	C180621316G	FLT4	NM_182925.5(FLT4):c.2021-64G>C	noncoding	Benign
5	180621972	C	A	C180621972A	FLT4	NM_182925.5(FLT4):c.1658-68G>T	noncoding	Benign
5	180622152	C	T	C180622152T	FLT4	NM_182925.5(FLT4):c.1658-248G>A	noncoding	Benign
5	180622178	G	C	G180622178C	FLT4	NM_182925.5(FLT4):c.1658-274C>G	noncoding	Benign
5	180622181	C	T	C180622181T	FLT4	NM_182925.5(FLT4):c.1658-277G>A	noncoding	Benign
5	180622525	T	C	T180622525C	FLT4	NM_182925.5(FLT4):c.1657+206A>G	noncoding	Benign
5	180622618	A	G	A180622618G	FLT4	NM_182925.5(FLT4):c.1657+113T>C	noncoding	Benign
5	180622907	G	A	G180622907A	FLT4	NM_182925.5(FLT4):c.1549-68C>T	noncoding	Benign
5	180622928	A	C	A180622928C	FLT4	NM_182925.5(FLT4):c.1549-89T>G	noncoding	Benign
5	180623148	T	C	T180623148C	FLT4	NM_182925.5(FLT4):c.1549-309A>G	noncoding	Benign
5	180623163	C	T	C180623163T	FLT4	NM_182925.5(FLT4):c.1549-324G>A	noncoding	Benign
5	180624118	A	T	A180624118T	FLT4	NM_182925.5(FLT4):c.1422-57T>A	noncoding	Benign
5	180626387	C	T	C180626387T	FLT4	NM_182925.5(FLT4):c.1104-122G>A	noncoding	Benign
5	180628902	G	C	G180628902C	FLT4	NM_182925.5(FLT4):c.1083C>G:p.Tyr361Ter	coding	Pathogenic
5	180628947	C	T	C180628947T	FLT4	NM_182925.5(FLT4):c.1038G>A:p.Thr346=	coding	Benign/Likely_benign
5	180629192	T	C	T180629192C	FLT4	NM_182925.5(FLT4):c.985+67A>G	noncoding	Benign
5	180629620	G	A	G180629620A	FLT4	NM_182925.5(FLT4):c.816+76C>T	noncoding	Benign
5	180630504	G	A	G180630504A	FLT4	NM_182925.5(FLT4):c.400+51C>T	noncoding	Benign
5	180630711	G	A	G180630711A	FLT4	NM_182925.5(FLT4):c.244C>T:p.Arg82Ter	coding	Pathogenic
5	180630876	C	T	C180630876T	FLT4	NM_182925.5(FLT4):c.156-77G>A	noncoding	Benign
5	180631008	C	A	C180631008A	FLT4	NM_182925.5(FLT4):c.156-209G>T	noncoding	Benign
5	180631011	A	G	A180631011G	FLT4	NM_182925.5(FLT4):c.156-212T>C	noncoding	Benign
5	180631083	G	C	G180631083C	FLT4	NM_182925.5(FLT4):c.156-284C>G	noncoding	Benign
5	180631451	T	C	T180631451C	FLT4	NM_182925.5(FLT4):c.155+231A>G	noncoding	Benign
5	180631842	T	C	T180631842C	FLT4	NM_182925.5(FLT4):c.59-64A>G	noncoding	Benign
5	180631963	G	A	G180631963A	FLT4	NM_182925.5(FLT4):c.59-185C>T	noncoding	Benign
5	180632042	T	C	T180632042C	FLT4	NM_182925.5(FLT4):c.59-264A>G	noncoding	Benign
5	180649240	A	G	A180649240G	FLT4	NM_182925.5(FLT4):c.58+248T>C	noncoding	Benign
5	180649403	C	T	C180649403T	FLT4	NM_182925.5(FLT4):c.58+85G>A	noncoding	Benign
5	180649460	G	C	G180649460C	FLT4	NM_182925.5(FLT4):c.58+28C>G	noncoding	Benign/Likely_benign
5	180649824	A	G	A180649824G	FLT4	Single_allele	noncoding	Benign
6	392783	G	A	G392783A	IRF4	NM_002460.4(IRF4):c.-55-315G>A	noncoding	Benign
6	392866	A	G	A392866G	IRF4	NM_002460.4(IRF4):c.-55-232A>G	noncoding	Benign
6	393359	G	C	G393359C	IRF4	NM_002460.4(IRF4):c.207G>C:p.Ala69=	coding	Benign
6	395634	T	C	T395634C	IRF4	NM_002460.4(IRF4):c.404-213T>C	noncoding	Benign
6	396121	G	C	G396121C	IRF4	NM_002460.4(IRF4):c.492+186G>C	noncoding	Benign
6	397101	C	T	C397101T	IRF4	NM_002460.4(IRF4):c.493-7C>T	noncoding	Benign
6	397261	G	A	G397261A	IRF4	NM_002460.4(IRF4):c.637+9G>A	noncoding	Benign
6	397269	T	G	T397269G	IRF4	NM_002460.4(IRF4):c.637+17T>G	noncoding	Benign
6	397290	T	C	T397290C	IRF4	NM_002460.4(IRF4):c.637+38T>C	noncoding	Benign
6	397478	T	C	T397478C	IRF4	NM_002460.4(IRF4):c.637+226T>C	noncoding	Benign
6	397485	A	G	A397485G	IRF4	NM_002460.4(IRF4):c.637+233A>G	noncoding	Benign
6	398775	G	A	G398775A	IRF4	NM_002460.4(IRF4):c.638-53G>A	noncoding	Benign
6	399079	T	A	T399079A	IRF4	NM_002460.4(IRF4):c.745+144T>A	noncoding	Benign
6	399218	T	C	T399218C	IRF4	NM_002460.4(IRF4):c.745+283T>C	noncoding	Benign
6	401446	G	A	G401446A	IRF4	NM_002460.4(IRF4):c.768G>A:p.Leu256=	coding	Benign
6	401509	C	T	C401509T	IRF4	NM_002460.4(IRF4):c.831C>T:p.Ser277=	coding	Benign
6	401789	C	T	C401789T	IRF4	NM_002460.4(IRF4):c.1099+12C>T	noncoding	Benign
6	402087	T	C	T402087C	IRF4	NM_002460.4(IRF4):c.1099+310T>C	noncoding	Benign
6	405146	C	G	C405146G	IRF4	NM_002460.4(IRF4):c.1212+16C>G	noncoding	Benign
6	405452	T	A	T405452A	IRF4	NM_002460.4(IRF4):c.1212+322T>A	noncoding	Benign
6	405457	T	C	T405457C	IRF4	NM_002460.4(IRF4):c.1212+327T>C	noncoding	Benign
6	407882	T	C	T407882C	IRF4	NM_002460.4(IRF4):c.*284T>C	noncoding	Benign
6	564083	A	G	A564083G	EXOC2	NM_018303.6(EXOC2):c.1739T>C:p.Leu580Ser	coding	Pathogenic
6	576766	G	A	G576766A	EXOC2	NM_018303.6(EXOC2):c.1309C>T:p.Arg437Ter	coding	Pathogenic
6	629868	C	T	C629868T	EXOC2	NM_018303.6(EXOC2):c.389G>A:p.Arg130His	coding	Pathogenic
6	656555	G	T	G656555T	EXOC2	NM_018303.6(EXOC2):c.-43-18694C>A	coding	Benign
6	1610202	C	G	C1610202G	FOXC1	NM_001453.3(FOXC1):c.-244C>G	noncoding	Benign
6	1610588	C	A	C1610588A	FOXC1	NM_001453.3(FOXC1):c.143C>A:p.Ser48Ter	coding	Pathogenic
6	1610686	T	C	T1610686C	FOXC1	NM_001453.3(FOXC1):c.241T>C:p.Tyr81His	coding	Pathogenic
6	1610702	T	G	T1610702G	FOXC1	NM_001453.3(FOXC1):c.257T>G:p.Leu86Arg	coding	Pathogenic
6	1610719	C	T	C1610719T	FOXC1	NM_001453.3(FOXC1):c.274C>T:p.Gln92Ter	coding	Pathogenic
6	1610811	G	A	G1610811A	FOXC1	NM_001453.3(FOXC1):c.366G>A:p.Trp122Ter	coding	Pathogenic
6	1610953	C	T	C1610953T	FOXC1	NM_001453.3(FOXC1):c.508C>T:p.Arg170Trp	coding	Pathogenic
6	1611045	G	C	G1611045C	FOXC1	NM_001453.3(FOXC1):c.600G>C:p.Gln200His	coding	Benign
6	1611157	C	T	C1611157T	FOXC1	NM_001453.3(FOXC1):c.712C>T:p.Gln238Ter	coding	Pathogenic
6	1611504	C	G	C1611504G	FOXC1	NM_001453.3(FOXC1):c.1059C>G:p.Tyr353Ter	coding	Pathogenic
6	1611656	C	T	C1611656T	FOXC1	NM_001453.3(FOXC1):c.1211C>T:p.Ala404Val	coding	Benign
6	1611778	A	C	A1611778C	FOXC1	NM_001453.3(FOXC1):c.1333A>C:p.Ser445Arg	coding	Benign
6	1612159	G	A	G1612159A	FOXC1	NM_001453.3(FOXC1):c.*52G>A	noncoding	Benign
6	1612212	C	A	C1612212A	FOXC1	NM_001453.3(FOXC1):c.*105C>A	noncoding	Benign
6	2836032	T	A	T2836032A	SERPINB1	NM_030666.4(SERPINB1):c.568-9A>T	noncoding	Benign
6	2948433	G	A	G2948433A	SERPINB6	NM_004568.6(SERPINB6):c.996C>T:p.Ala332=	coding	Benign/Likely_benign
6	2948731	C	T	C2948731T	SERPINB6	NM_004568.6(SERPINB6):c.730-32G>A	noncoding	Benign
6	2948935	G	A	G2948935A	SERPINB6	NM_004568.6(SERPINB6):c.708C>T:p.Asp236=	coding	Benign/Likely_benign
6	2949153	G	A	G2949153A	SERPINB6	NM_004568.6(SERPINB6):c.574-84C>T	noncoding	Benign
6	2953018	T	C	T2953018C	SERPINB6	NM_004568.6(SERPINB6):c.573+26A>G	noncoding	Benign
6	2953211	A	G	A2953211G	SERPINB6	NM_004568.6(SERPINB6):c.431-25T>C	noncoding	Benign
6	2953326	C	T	C2953326T	SERPINB6	NM_004568.6(SERPINB6):c.431-140G>A	noncoding	Benign
6	2954323	C	T	C2954323T	SERPINB6	NM_004568.6(SERPINB6):c.430+269G>A	noncoding	Benign
6	2954368	C	T	C2954368T	SERPINB6	NM_004568.6(SERPINB6):c.430+224G>A	noncoding	Benign
6	2954385	C	T	C2954385T	SERPINB6	NM_004568.6(SERPINB6):c.430+207G>A	noncoding	Benign
6	2954736	C	T	C2954736T	SERPINB6	NM_004568.6(SERPINB6):c.313-27G>A	noncoding	Benign
6	2959555	C	T	C2959555T	SERPINB6	NM_004568.6(SERPINB6):c.-10-213G>A	noncoding	Benign
6	2959562	T	C	T2959562C	SERPINB6	NM_004568.6(SERPINB6):c.-10-220A>G	noncoding	Benign
6	2959594	G	A	G2959594A	SERPINB6	NM_004568.6(SERPINB6):c.-10-252C>T	noncoding	Benign
6	2968548	T	C	T2968548C	SERPINB6	NM_004568.6(SERPINB6):c.-11+2985A>G	noncoding	Benign
6	2969044	C	T	C2969044T	SERPINB6	NM_004568.6(SERPINB6):c.-11+2489G>A	noncoding	Benign
6	2970455	A	C	A2970455C	SERPINB6	NM_004568.6(SERPINB6):c.-11+1078T>G	noncoding	Benign
6	2970707	G	C	G2970707C	SERPINB6	NM_004568.6(SERPINB6):c.-11+826C>G	noncoding	Benign
6	2970974	G	T	G2970974T	SERPINB6	NM_004568.6(SERPINB6):c.-11+559C>A	coding	Benign
6	2971027	T	C	T2971027C	SERPINB6	NM_004568.6(SERPINB6):c.-11+506A>G	coding	Benign
6	2971332	G	T	G2971332T	SERPINB6	NM_004568.6(SERPINB6):c.-11+201C>A	noncoding	Benign
6	2971355	G	A	G2971355A	SERPINB6	NM_004568.6(SERPINB6):c.-11+178C>T	noncoding	Benign
6	3076907	T	C	T3076907C	RIPK1	NM_001354930.2(RIPK1):c.84T>C:p.Phe28=	coding	Benign
6	3077801	G	T	G3077801T	RIPK1	NM_001354930.2(RIPK1):c.187G>T:p.Glu63Ter	coding	Pathogenic
6	3085243	A	C	A3085243C	RIPK1	NM_001354930.2(RIPK1):c.689-16A>C	noncoding	Benign
6	3085270	G	A	G3085270A	RIPK1	NM_001354930.2(RIPK1):c.700G>A:p.Glu234Lys	coding	Benign
6	3085279	T	C	T3085279C	RIPK1	NM_001354930.2(RIPK1):c.709T>C:p.Leu237=	coding	Benign
6	3105504	G	A	G3105504A	RIPK1	NM_001354930.2(RIPK1):c.1029G>A:p.Leu343=	coding	Benign
6	3105558	T	C	T3105558C	RIPK1	NM_001354930.2(RIPK1):c.1083T>C:p.Pro361=	coding	Benign
6	3106066	G	A	G3106066A	RIPK1	NM_001354930.2(RIPK1):c.1576+15G>A	noncoding	Benign
6	3110858	C	G	C3110858G	RIPK1	NM_001354930.2(RIPK1):c.1632C>G:p.Tyr544Ter	coding	Pathogenic
6	3153540	A	C	A3153540C	TUBB2A	NM_004332.4(BPHL):c.*965A>C	noncoding	Benign
6	3153870	T	A	T3153870A	TUBB2A	NM_001069.3(TUBB2A):c.1331A>T:p.Glu444Val	coding	Benign
6	3154131	G	A	G3154131A	TUBB2A	NM_001069.3(TUBB2A):c.1070C>T:p.Pro357Leu	coding	Pathogenic
6	3154260	G	T	G3154260T	TUBB2A	NM_001069.3(TUBB2A):c.941C>A:p.Ala314Asp	coding	Pathogenic
6	3154421	G	A	G3154421A	TUBB2A	NM_001069.3(TUBB2A):c.780C>T:p.Phe260=	coding	Benign/Likely_benign
6	3154586	C	G	C3154586G	TUBB2A	NM_001069.3(TUBB2A):c.615G>C:p.Glu205Asp	coding	Pathogenic
6	3154807	C	T	C3154807T	TUBB2A	NM_001069.3(TUBB2A):c.394G>A:p.Gly132Ser	coding	Pathogenic/Likely_pathogenic
6	3154847	A	G	A3154847G	TUBB2A	NM_001069.3(TUBB2A):c.354T>C:p.Asp118=	coding	Benign
6	3154905	T	C	T3154905C	TUBB2A	NM_001069.3(TUBB2A):c.296A>G:p.Asn99Ser	coding	Pathogenic
6	3154907	C	G	C3154907G	TUBB2A	NM_001069.3(TUBB2A):c.294G>C:p.Gly98=	coding	Benign/Likely_benign
6	3155364	G	A	G3155364A	TUBB2A	NM_001069.3(TUBB2A):c.277+261C>T	noncoding	Benign
6	3155431	T	A	T3155431A	TUBB2A	NM_001069.3(TUBB2A):c.277+194A>T	noncoding	Benign
6	3155898	A	T	A3155898T	TUBB2A	NM_001069.3(TUBB2A):c.166+146T>A	noncoding	Benign
6	3156114	G	A	G3156114A	TUBB2A	NM_001069.3(TUBB2A):c.96C>T:p.Pro32=	coding	Benign
6	3156296	C	T	C3156296T	TUBB2A	NM_001069.3(TUBB2A):c.58-144G>A	noncoding	Benign
6	3157165	A	G	A3157165G	TUBB2A	NM_001069.3(TUBB2A):c.57+242T>C	noncoding	Benign
6	3157208	C	G	C3157208G	TUBB2A	NM_001069.3(TUBB2A):c.57+199G>C	noncoding	Benign
6	3157379	C	T	C3157379T	TUBB2A	NM_001069.3(TUBB2A):c.57+28G>A	noncoding	Benign
6	3157554	C	T	C3157554T	TUBB2A	Single_allele	noncoding	Benign
6	3157564	G	A	G3157564A	TUBB2A	Single_allele	noncoding	Benign
6	3157575	C	T	C3157575T	TUBB2A	Single_allele	noncoding	Benign
6	3157620	T	C	T3157620C	TUBB2A	Single_allele	noncoding	Benign
6	3157688	G	C	G3157688C	TUBB2A	Single_allele	noncoding	Benign
6	3157741	T	C	T3157741C	TUBB2A	Single_allele	noncoding	Benign
6	3224787	C	T	C3224787T	TUBB2B	NM_178012.5(TUBB2B):c.1302G>A:p.Gly434=	coding	Benign
6	3224951	G	A	G3224951A	TUBB2B	NM_178012.5(TUBB2B):c.1138C>T:p.Arg380Cys	coding	Pathogenic
6	3225117	C	G	C3225117G	TUBB2B	NM_178012.5(TUBB2B):c.972G>C:p.Lys324Asn	coding	Pathogenic
6	3225313	G	A	G3225313A	TUBB2B	NM_178012.5(TUBB2B):c.776C>T:p.Pro259Leu	coding	Pathogenic
6	3225359	C	T	C3225359T	TUBB2B	NM_178012.5(TUBB2B):c.730G>A:p.Gly244Ser	coding	Pathogenic
6	3226849	C	A	C3226849A	TUBB2B	NM_178012.5(TUBB2B):c.58-180G>T	noncoding	Benign
6	3226966	T	G	T3226966G	TUBB2B	NM_178012.5(TUBB2B):c.58-297A>C	noncoding	Benign
6	3227293	G	C	G3227293C	TUBB2B	NM_178012.5(TUBB2B):c.57+194C>G	noncoding	Benign
6	3232126	C	T	C3232126T	LOC100422781	NR_147505.1(LOC100422781):n.724C>T	noncoding	Benign
6	5109358	T	G	T5109358G	LYRM4	NM_020408.6(LYRM4):c.*65A>C	noncoding	Benign
6	5144108	C	G	C5144108G	LYRM4	NM_020408.6(LYRM4):c.208-34617G>C	noncoding	Benign
6	5186666	G	T	G5186666T	LYRM4	NM_020408.6(LYRM4):c.207+29952C>A	coding	Benign
6	5216417	C	T	C5216417T	LYRM4	NM_020408.6(LYRM4):c.207+201G>A	noncoding	Benign
6	5216835	T	C	T5216835C	LYRM4	NM_020408.6(LYRM4):c.87-97A>G	noncoding	Benign
6	5216849	C	T	C5216849T	LYRM4	NM_020408.6(LYRM4):c.87-111G>A	noncoding	Benign
6	5260461	C	T	C5260461T	LYRM4	NM_020408.6(LYRM4):c.86+187G>A	noncoding	Benign
6	5260518	C	G	C5260518G	LYRM4	NM_020408.6(LYRM4):c.86+130G>C	noncoding	Benign
6	5260579	C	G	C5260579G	LYRM4	NM_020408.6(LYRM4):c.86+69G>C	noncoding	Benign
6	5260583	A	G	A5260583G	LYRM4	NM_020408.6(LYRM4):c.86+65T>C	noncoding	Benign
6	5261075	T	G	T5261075G	LYRM4	NM_001318872.2(FARS2):c.-305T>G	noncoding	Benign
6	5261307	C	T	C5261307T	FARS2	NM_001318872.2(FARS2):c.-73C>T	noncoding	Benign
6	5261342	T	C	T5261342C	FARS2	NM_006567.4(FARS2):c.-340T>C	noncoding	Benign
6	5261368	T	C	T5261368C	FARS2	NM_006567.4(FARS2):c.-314T>C	noncoding	Benign
6	5261370	T	C	T5261370C	FARS2	NM_006567.4(FARS2):c.-312T>C	noncoding	Benign
6	5261375	T	C	T5261375C	FARS2	NM_006567.4(FARS2):c.-307T>C	noncoding	Benign
6	5261448	A	G	A5261448G	FARS2	NM_006567.4(FARS2):c.-234A>G	noncoding	Benign
6	5261612	A	G	A5261612G	FARS2	NM_006567.5(FARS2):c.-70A>G	noncoding	Benign
6	5261754	A	T	A5261754T	FARS2	NM_006567.5(FARS2):c.-22+94A>T	noncoding	Benign
6	5368868	C	T	C5368868T	FARS2	NM_006567.5(FARS2):c.298C>T:p.Gln100Ter	coding	Pathogenic
6	5369427	C	T	C5369427T	FARS2	NM_006567.5(FARS2):c.612+245C>T	noncoding	Benign
6	5404575	C	T	C5404575T	FARS2	NM_006567.5(FARS2):c.646C>T:p.Gln216Ter	coding	Pathogenic
6	5404725	C	T	C5404725T	FARS2	NM_006567.5(FARS2):c.772+24C>T	noncoding	Benign
6	5545194	C	T	C5545194T	FARS2	NM_006567.5(FARS2):c.919C>T:p.Arg307Ter	coding	Pathogenic
6	5545274	G	A	G5545274A	FARS2	NM_006567.5(FARS2):c.999G>A:p.Trp333Ter	coding	Pathogenic
6	5545421	C	T	C5545421T	FARS2	NM_006567.5(FARS2):c.1065+81C>T	noncoding	Benign
6	5612874	A	T	A5612874T	FARS2	NM_006567.5(FARS2):c.1066-295A>T	noncoding	Benign
6	5613259	C	T	C5613259T	FARS2	NM_006567.5(FARS2):c.1156C>T:p.Arg386Ter	coding	Pathogenic
6	5653478	C	T	C5653478T	FARS2	NM_006567.5(FARS2):c.1217+40158C>T	noncoding	Benign
6	6146088	T	C	T6146088C	F13A1	NM_000129.4(F13A1):c.2046-316A>G	noncoding	Benign
6	6151586	T	C	T6151586C	F13A1	NM_000129.4(F13A1):c.2045+227A>G	noncoding	Benign
6	6151719	C	T	C6151719T	F13A1	NM_000129.4(F13A1):c.2045+94G>A	noncoding	Benign
6	6151978	C	G	C6151978G	F13A1	NM_000129.4(F13A1):c.1909-29G>C	noncoding	Benign
6	6152175	C	A	C6152175A	F13A1	NM_000129.4(F13A1):c.1909-226G>T	noncoding	Benign
6	6152237	A	T	A6152237T	F13A1	NM_000129.4(F13A1):c.1909-288T>A	noncoding	Benign
6	6167388	G	A	G6167388A	F13A1	NM_000129.4(F13A1):c.1908+70C>T	noncoding	Benign
6	6174553	G	C	G6174553C	F13A1	NM_000129.4(F13A1):c.1747+27C>G	noncoding	Benign
6	6174824	G	T	G6174824T	F13A1	NM_000129.4(F13A1):c.1503C>A:p.Tyr501Ter	coding	Pathogenic
6	6174941	C	T	C6174941T	F13A1	NM_000129.4(F13A1):c.1460-74G>A	noncoding	Benign
6	6181849	C	T	C6181849T	F13A1	NM_000129.4(F13A1):c.1459+139G>A	noncoding	Benign
6	6182372	C	T	C6182372T	F13A1	NM_000129.4(F13A1):c.1306-231G>A	noncoding	Benign
6	6195693	C	T	C6195693T	F13A1	NM_000129.4(F13A1):c.1305+104G>A	noncoding	Benign
6	6195908	G	A	G6195908A	F13A1	NM_000129.4(F13A1):c.1217-23C>T	noncoding	Benign
6	6195909	G	A	G6195909A	F13A1	NM_000129.4(F13A1):c.1217-24C>T	noncoding	Benign
6	6221869	T	A	T6221869A	F13A1	NM_000129.4(F13A1):c.1112+164A>T	noncoding	Benign
6	6222504	C	T	C6222504T	F13A1	NM_000129.4(F13A1):c.974-333G>A	noncoding	Benign
6	6224381	A	G	A6224381G	F13A1	NM_000129.4(F13A1):c.973+305T>C	noncoding	Benign
6	6250679	T	A	T6250679A	F13A1	NM_000129.4(F13A1):c.690+132A>T	noncoding	Benign
6	6250734	G	A	G6250734A	F13A1	NM_000129.4(F13A1):c.690+77C>T	noncoding	Benign
6	6251271	G	A	G6251271A	F13A1	NM_000129.4(F13A1):c.572-342C>T	noncoding	Benign
6	6267071	G	T	G6267071T	F13A1	NM_000129.4(F13A1):c.320-262C>A	noncoding	Benign
6	6305225	G	C	G6305225C	F13A1	NM_000129.4(F13A1):c.319+126C>G	noncoding	Benign
6	6305244	C	A	C6305244A	F13A1	NM_000129.4(F13A1):c.319+107G>T	noncoding	Benign
6	6320895	T	C	T6320895C	F13A1	Single_allele	noncoding	Benign
6	7231610	G	A	G7231610A	RREB1	NM_001003699.4(RREB1):c.3511G>A:p.Asp1171Asn	coding	Benign
6	7541882	C	T	C7541882T	DSP	NM_004415.4(DSP):c.-34C>T	noncoding	Benign
6	7542000	G	T	G7542000T	DSP	NM_004415.4(DSP):c.85G>T:p.Glu29Ter	coding	Pathogenic
6	7542038	C	G	C7542038G	DSP	NM_004415.4(DSP):c.123C>G:p.Tyr41Ter	coding	Pathogenic/Likely_pathogenic
6	7555621	G	C	G7555621C	DSP	NM_004415.4(DSP):c.171-97G>C	noncoding	Benign
6	7558162	T	A	T7558162A	DSP	NM_004415.4(DSP):c.320T>A:p.Leu107Ter	coding	Pathogenic
6	7558205	C	T	C7558205T	DSP	NM_004415.4(DSP):c.363C>T:p.Leu121=	coding	Benign/Likely_benign
6	7558296	C	G	C7558296G	DSP	NM_004415.4(DSP):c.422+32C>G	noncoding	Benign
6	7558345	A	G	A7558345G	DSP	NM_004415.4(DSP):c.422+81A>G	noncoding	Benign
6	7558348	G	T	G7558348T	DSP	NM_004415.4(DSP):c.422+84G>T	noncoding	Benign
6	7558409	A	G	A7558409G	DSP	NM_004415.4(DSP):c.422+145A>G	noncoding	Benign
6	7558487	C	G	C7558487G	DSP	NM_004415.4(DSP):c.422+223C>G	noncoding	Benign
6	7559131	A	G	A7559131G	DSP	NM_004415.4(DSP):c.423-95A>G	noncoding	Benign
6	7559203	T	A	T7559203A	DSP	NM_004415.4(DSP):c.423-23T>A	noncoding	Benign
6	7559251	C	T	C7559251T	DSP	NM_004415.4(DSP):c.448C>T:p.Arg150Ter	coding	Pathogenic
6	7559325	T	A	T7559325A	DSP	NM_004415.4(DSP):c.522T>A:p.Cys174Ter	coding	Pathogenic
6	7562373	G	T	G7562373T	DSP	NM_004415.4(DSP):c.598-279G>T	noncoding	Benign
6	7563757	C	T	C7563757T	DSP	NM_004415.4(DSP):c.748C>T:p.Gln250Ter	coding	Pathogenic
6	7563880	C	G	C7563880G	DSP	NM_004415.4(DSP):c.777+94C>G	noncoding	Benign
6	7565392	C	T	C7565392T	DSP	NM_004415.4(DSP):c.811C>T:p.Gln271Ter	coding	Pathogenic
6	7565475	G	A	G7565475A	DSP	NM_004415.4(DSP):c.894G>A:p.Trp298Ter	coding	Pathogenic
6	7565537	C	T	C7565537T	DSP	NM_004415.4(DSP):c.939+17C>T	noncoding	Benign/Likely_benign
6	7566493	G	A	G7566493A	DSP	NM_004415.4(DSP):c.1044+12G>A	noncoding	Benign/Likely_benign
6	7567389	G	A	G7567389A	DSP	NM_004415.4(DSP):c.1080G>A:p.Trp360Ter	coding	Pathogenic
6	7567455	T	C	T7567455C	DSP	NM_004415.4(DSP):c.1140+6T>C	noncoding	Benign/Likely_benign
6	7567849	C	A	C7567849A	DSP	NM_004415.4(DSP):c.1209C>A:p.Tyr403Ter	coding	Pathogenic
6	7568073	C	T	C7568073T	DSP	NM_004415.4(DSP):c.1266+167C>T	noncoding	Benign
6	7568509	C	T	C7568509T	DSP	NM_004415.4(DSP):c.1339C>T:p.Gln447Ter	coding	Pathogenic
6	7568521	C	G	C7568521G	DSP	NM_004415.4(DSP):c.1351C>G:p.Arg451Gly	coding	Pathogenic/Likely_pathogenic
6	7568607	A	C	A7568607C	DSP	NM_004415.4(DSP):c.1419+18A>C	noncoding	Benign/Likely_benign
6	7570430	C	T	C7570430T	DSP	NM_004415.4(DSP):c.1575-7C>T	noncoding	Benign/Likely_benign
6	7570518	C	G	C7570518G	DSP	NM_004415.4(DSP):c.1656C>G:p.Tyr552Ter	coding	Pathogenic
6	7570539	G	A	G7570539A	DSP	NM_004415.4(DSP):c.1677G>A:p.Lys559=	coding	Benign/Likely_benign
6	7571459	A	G	A7571459G	DSP	NM_004415.4(DSP):c.1778A>G:p.Asn593Ser	coding	Benign/Likely_benign
6	7571506	C	T	C7571506T	DSP	NM_004415.4(DSP):c.1825C>T:p.Gln609Ter	coding	Pathogenic/Likely_pathogenic
6	7571541	G	A	G7571541A	DSP	NM_004415.4(DSP):c.1860G>A:p.Gln620=	coding	Benign/Likely_benign
6	7571876	C	A	C7571876A	DSP	NM_004415.4(DSP):c.1938C>A:p.Cys646Ter	coding	Pathogenic
6	7571949	G	T	G7571949T	DSP	NM_004415.4(DSP):c.2011G>T:p.Glu671Ter	coding	Pathogenic
6	7574178	T	G	T7574178G	DSP	NM_004415.4(DSP):c.2223T>G:p.Tyr741Ter	coding	Pathogenic
6	7574254	T	A	T7574254A	DSP	NM_004415.4(DSP):c.2297+2T>A	noncoding	Pathogenic
6	7574710	T	A	T7574710A	DSP	NM_004415.4(DSP):c.2351T>A:p.Leu784Ter	coding	Pathogenic
6	7575275	T	G	T7575275G	DSP	NM_004415.4(DSP):c.2437-20T>G	noncoding	Benign/Likely_benign
6	7575391	C	T	C7575391T	DSP	NM_004415.4(DSP):c.2533C>T:p.Gln845Ter	coding	Pathogenic
6	7576300	G	A	G7576300A	DSP	NM_004415.4(DSP):c.2637G>A:p.Trp879Ter	coding	Pathogenic
6	7576313	C	T	C7576313T	DSP	NM_004415.4(DSP):c.2650C>T:p.Gln884Ter	coding	Pathogenic
6	7576372	T	A	T7576372A	DSP	NM_004415.4(DSP):c.2709T>A:p.Tyr903Ter	coding	Pathogenic
6	7576961	C	T	C7576961T	DSP	NM_004415.4(DSP):c.2796C>T:p.Asn932=	coding	Benign/Likely_benign
6	7577791	C	T	C7577791T	DSP	NM_004415.4(DSP):c.2890C>T:p.Gln964Ter	coding	Pathogenic
6	7579179	A	G	A7579179G	DSP	NM_004415.4(DSP):c.3085-96A>G	noncoding	Benign
6	7579203	G	A	G7579203A	DSP	NM_004415.4(DSP):c.3085-72G>A	noncoding	Benign
6	7579629	C	T	C7579629T	DSP	NM_004415.4(DSP):c.3439C>T:p.Gln1147Ter	coding	Pathogenic
6	7579655	G	A	G7579655A	DSP	NM_004415.4(DSP):c.3465G>A:p.Trp1155Ter	coding	Pathogenic
6	7579656	C	T	C7579656T	DSP	NM_004415.4(DSP):c.3466C>T:p.Gln1156Ter	coding	Pathogenic/Likely_pathogenic
6	7579663	T	G	T7579663G	DSP	NM_004415.4(DSP):c.3473T>G:p.Leu1158Ter	coding	Pathogenic
6	7579725	C	T	C7579725T	DSP	NM_004415.4(DSP):c.3535C>T:p.Gln1179Ter	coding	Pathogenic
6	7579754	T	A	T7579754A	DSP	NM_004415.4(DSP):c.3564T>A:p.Tyr1188Ter	coding	Pathogenic
6	7579929	C	T	C7579929T	DSP	NM_004415.4(DSP):c.3739C>T:p.Arg1247Ter	coding	Pathogenic
6	7579974	C	T	C7579974T	DSP	NM_004415.4(DSP):c.3784C>T:p.Gln1262Ter	coding	Pathogenic
6	7579983	G	T	G7579983T	DSP	NM_004415.4(DSP):c.3793G>T:p.Glu1265Ter	coding	Pathogenic/Likely_pathogenic
6	7579989	C	T	C7579989T	DSP	NM_004415.4(DSP):c.3799C>T:p.Arg1267Ter	coding	Pathogenic
6	7580091	C	T	C7580091T	DSP	NM_004415.4(DSP):c.3901C>T:p.Gln1301Ter	coding	Pathogenic
6	7580391	G	T	G7580391T	DSP	NM_004415.4(DSP):c.4201G>T:p.Glu1401Ter	coding	Pathogenic
6	7580420	G	A	G7580420A	DSP	NM_004415.4(DSP):c.4230G>A:p.Lys1410=	coding	Benign
6	7580487	C	T	C7580487T	DSP	NM_004415.4(DSP):c.4297C>T:p.Gln1433Ter	coding	Pathogenic/Likely_pathogenic
6	7580792	A	G	A7580792G	DSP	NM_004415.4(DSP):c.4602A>G:p.Glu1534=	coding	Benign/Likely_benign
6	7580889	C	T	C7580889T	DSP	NM_004415.4(DSP):c.4699C>T:p.Gln1567Ter	coding	Pathogenic
6	7580979	G	T	G7580979T	DSP	NM_004415.4(DSP):c.4789G>T:p.Glu1597Ter	coding	Pathogenic
6	7581182	G	C	G7581182C	DSP	NM_004415.4(DSP):c.4992G>C:p.Leu1664=	coding	Benign
6	7581204	C	T	C7581204T	DSP	NM_004415.4(DSP):c.5014C>T:p.Gln1672Ter	coding	Pathogenic
6	7582407	A	G	A7582407G	DSP	NM_004415.4(DSP):c.5380-235A>G	noncoding	Benign
6	7582641	G	A	G7582641A	DSP	NM_004415.4(DSP):c.5380-1G>A	noncoding	Pathogenic
6	7582690	C	T	C7582690T	DSP	NM_004415.4(DSP):c.5428C>T:p.Gln1810Ter	coding	Pathogenic
6	7582693	G	T	G7582693T	DSP	NM_004415.4(DSP):c.5431G>T:p.Glu1811Ter	coding	Pathogenic
6	7582750	C	T	C7582750T	DSP	NM_004415.4(DSP):c.5488C>T:p.Gln1830Ter	coding	Pathogenic
6	7583068	C	T	C7583068T	DSP	NM_004415.4(DSP):c.5806C>T:p.Gln1936Ter	coding	Pathogenic
6	7583092	C	T	C7583092T	DSP	NM_004415.4(DSP):c.5830C>T:p.Gln1944Ter	coding	Pathogenic
6	7583515	C	T	C7583515T	DSP	NM_004415.4(DSP):c.6253C>T:p.Gln2085Ter	coding	Pathogenic
6	7583644	C	T	C7583644T	DSP	NM_004415.4(DSP):c.6382C>T:p.Gln2128Ter	coding	Pathogenic
6	7583893	C	T	C7583893T	DSP	NM_004415.4(DSP):c.6631C>T:p.Gln2211Ter	coding	Pathogenic
6	7584479	C	G	C7584479G	DSP	NM_004415.4(DSP):c.7217C>G:p.Ser2406Ter	coding	Pathogenic/Likely_pathogenic
6	10398749	A	T	A10398749T	TFAP2A	NM_001372066.1(TFAP2A):c.1032-44T>A	noncoding	Benign
6	10402840	G	A	G10402840A	TFAP2A	NM_001372066.1(TFAP2A):c.771-230C>T	noncoding	Benign
6	10402950	T	C	T10402950C	TFAP2A	NM_001372066.1(TFAP2A):c.771-340A>G	noncoding	Benign
6	10404233	G	A	G10404233A	TFAP2A	NM_001372066.1(TFAP2A):c.770+275C>T	noncoding	Benign
6	10404278	A	G	A10404278G	TFAP2A	NM_001372066.1(TFAP2A):c.770+230T>C	noncoding	Benign
6	10404565	C	G	C10404565G	TFAP2A;TFAP2A-AS2	NM_001372066.1(TFAP2A):c.713G>C:p.Arg238Pro	coding	Pathogenic
6	10410246	C	T	C10410246T	TFAP2A	NM_001372066.1(TFAP2A):c.141G>A:p.Leu47=	coding	Benign
6	10411381	G	A	G10411381A	TFAP2A	NM_001372066.1(TFAP2A):c.52-1046C>T	noncoding	Benign
6	10412555	G	A	G10412555A	TFAP2A	NM_001372066.1(TFAP2A):c.52-2220C>T	noncoding	Benign
6	10412596	G	A	G10412596A	TFAP2A	NM_001372066.1(TFAP2A):c.52-2261C>T	noncoding	Benign
6	10414768	T	C	T10414768C	TFAP2A	NM_001372066.1(TFAP2A):c.51+173A>G	coding	Benign
6	10414773	G	C	G10414773C	TFAP2A	NM_001372066.1(TFAP2A):c.51+168C>G	coding	Benign
6	10414817	G	T	G10414817T	TFAP2A	NM_001372066.1(TFAP2A):c.51+124C>A	coding	Benign
6	10415074	C	G	C10415074G	TFAP2A	NM_001372066.1(TFAP2A):c.-83G>C	coding	Benign
6	10419243	C	T	C10419243T	TFAP2A	NM_001042425.3(TFAP2A):c.33+175G>A	noncoding	Benign
6	10419731	C	A	C10419731A	TFAP2A	Single_allele	noncoding	Benign
6	10419865	C	T	C10419865T	TFAP2A	Single_allele	noncoding	Benign
6	10528561	T	C	T10528561C	GCNT2	NM_145649.5(GCNT2):c.-281-70T>C	noncoding	Benign
6	10528781	A	G	A10528781G	GCNT2	NM_145649.5(GCNT2):c.-131A>G	noncoding	Benign
6	10528854	T	C	T10528854C	GCNT2	NM_145649.5(GCNT2):c.-58T>C	noncoding	Benign
6	10528886	A	C	A10528886C	GCNT2	NM_145649.5(GCNT2):c.-26A>C	noncoding	Benign
6	10528925	G	A	G10528925A	GCNT2	NM_145649.5(GCNT2):c.14G>A:p.Trp5Ter	coding	Pathogenic
6	10555655	G	A	G10555655A	GCNT2	NM_145649.5(GCNT2):c.925+25819G>A	noncoding	Benign
6	10585747	A	G	A10585747G	GCNT2	NM_145649.5(GCNT2):c.926-35604A>G	noncoding	Benign
6	10585773	A	C	A10585773C	GCNT2	NM_145649.5(GCNT2):c.926-35578A>C	coding	Benign
6	10585880	G	A	G10585880A	GCNT2	NM_145649.5(GCNT2):c.926-35471G>A	coding	Benign
6	10586696	A	G	A10586696G	GCNT2	NM_145649.5(GCNT2):c.926-34655A>G	coding	Benign
6	10586805	C	G	C10586805G	GCNT2	NM_145649.5(GCNT2):c.926-34546C>G	coding	Benign
6	10586823	A	G	A10586823G	GCNT2	NM_145649.5(GCNT2):c.926-34528A>G	coding	Benign
6	10587188	G	A	G10587188A	GCNT2	NM_145649.5(GCNT2):c.926-34163G>A	noncoding	Benign
6	10621314	C	T	C10621314T	GCNT2	NM_145649.5(GCNT2):c.926-37C>T	noncoding	Benign
6	10621425	A	T	A10621425T	GCNT2	NM_145649.5(GCNT2):c.1000A>T:p.Arg334Ter	coding	Pathogenic
6	10621597	C	T	C10621597T	GCNT2	NM_145649.5(GCNT2):c.1018+154C>T	noncoding	Benign
6	10621634	T	C	T10621634C	GCNT2	NM_145649.5(GCNT2):c.1018+191T>C	noncoding	Benign
6	10621695	T	C	T10621695C	GCNT2	NM_145649.5(GCNT2):c.1018+252T>C	noncoding	Benign
6	10626179	C	T	C10626179T	GCNT2	NM_145649.5(GCNT2):c.1019-238C>T	noncoding	Benign
6	10626331	G	A	G10626331A	GCNT2	NM_145649.5(GCNT2):c.1019-86G>A	noncoding	Benign
6	10775367	G	A	G10775367A	MAK	NM_001242957.3(MAK):c.1558C>T:p.Pro520Ser	coding	Benign/Likely_benign
6	10784507	A	G	A10784507G	MAK	NM_001242957.3(MAK):c.1382T>C:p.Val461Ala	coding	Benign
6	10784529	C	A	C10784529A	MAK	NM_001242957.3(MAK):c.1360G>T:p.Glu454Ter	coding	Pathogenic
6	10791840	T	C	T10791840C	MAK	NM_001242957.3(MAK):c.1151A>G:p.Asn384Ser	coding	Benign
6	10803744	G	T	G10803744T	MAK	NM_001242957.3(MAK):c.639C>A:p.Cys213Ter	coding	Pathogenic
6	10803891	C	T	C10803891T	MAK	NM_001242957.3(MAK):c.492G>A:p.Trp164Ter	coding	Pathogenic
6	10813681	A	T	A10813681T	MAK	NM_001242957.3(MAK):c.321T>A:p.Tyr107Ter	coding	Pathogenic
6	10818861	G	A	G10818861A	MAK	NM_001242957.3(MAK):c.156+25C>T	noncoding	Benign
6	10830642	G	A	G10830642A	MAK	NM_001242957.3(MAK):c.7C>T:p.Arg3Ter	coding	Pathogenic
6	10874909	C	T	C10874909T	GCM2	NM_004752.4(GCM2):c.607G>A:p.Gly203Ser	coding	Benign/Likely_benign
6	10875005	T	A	T10875005A	GCM2	NM_004752.4(GCM2):c.583-72A>T	noncoding	Benign
6	10875029	C	T	C10875029T	GCM2	NM_004752.4(GCM2):c.583-96G>A	noncoding	Benign
6	10875670	T	G	T10875670G	GCM2	NM_004752.4(GCM2):c.582+221A>C	noncoding	Benign
6	10875803	C	T	C10875803T	GCM2	NM_004752.4(GCM2):c.582+88G>A	noncoding	Benign
6	10876639	A	C	A10876639C	GCM2	NM_004752.4(GCM2):c.344-82T>G	noncoding	Benign
6	10876746	A	T	A10876746T	GCM2	NM_004752.4(GCM2):c.344-189T>A	noncoding	Benign
6	10876847	T	C	T10876847C	GCM2	NM_004752.4(GCM2):c.344-290A>G	noncoding	Benign
6	10876977	C	T	C10876977T	GCM2	NM_004752.4(GCM2):c.343+163G>A	noncoding	Benign
6	10877315	C	G	C10877315G	GCM2	NM_004752.4(GCM2):c.168G>C:p.Lys56Asn	coding	Benign/Likely_benign
6	10877326	C	T	C10877326T	GCM2	NM_004752.4(GCM2):c.157G>A:p.Asp53Asn	coding	Benign/Likely_benign
6	10877368	G	A	G10877368A	GCM2	NM_004752.4(GCM2):c.115C>T:p.Arg39Ter	coding	Pathogenic
6	10877522	A	G	A10877522G	GCM2	NM_004752.4(GCM2):c.91-130T>C	noncoding	Benign
6	10877634	T	C	T10877634C	GCM2	NM_004752.4(GCM2):c.91-242A>G	noncoding	Benign
6	10877663	T	C	T10877663C	GCM2	NM_004752.4(GCM2):c.91-271A>G	noncoding	Benign
6	10881651	C	T	C10881651T	GCM2	NM_004752.4(GCM2):c.90+53G>A	noncoding	Benign
6	10881942	C	T	C10881942T	GCM2	NM_004752.4(GCM2):c.-149G>A	noncoding	Benign
6	10882041	C	G	C10882041G	GCM2	NM_004752.4(GCM2):c.-248G>C	noncoding	Benign
6	12290879	T	C	T12290879C	EDN1	NM_001955.5(EDN1):c.64+186T>C	noncoding	Benign
6	12292295	G	A	G12292295A	EDN1	NM_001955.5(EDN1):c.65-46G>A	noncoding	Benign
6	12292539	G	T	G12292539T	EDN1	NM_001955.5(EDN1):c.233+30G>T	noncoding	Benign
6	12293904	T	C	T12293904C	EDN1	NM_001955.5(EDN1):c.234-37T>C	noncoding	Benign
6	12294025	A	G	A12294025G	EDN1	NM_001955.5(EDN1):c.318A>G:p.Glu106=	coding	Benign
6	12295754	C	T	C12295754T	EDN1	NM_001955.5(EDN1):c.534-208C>T	noncoding	Benign
6	12295770	A	G	A12295770G	EDN1	NM_001955.5(EDN1):c.534-192A>G	noncoding	Benign
6	12903725	A	G	A12903725G	PHACTR1	NM_030948.6(PHACTR1):c.251-149640A>G	noncoding	Benign
6	13053411	C	T	C13053411T	PHACTR1	NM_030948.6(PHACTR1):c.297C>T:p.Val99=	coding	Benign
6	13272864	C	A	C13272864A	PHACTR1	NM_030948.6(PHACTR1):c.1396C>A:p.Leu466Met	coding	Pathogenic
6	13278319	T	C	T13278319C	PHACTR1	NM_030948.6(PHACTR1):c.1499T>C:p.Leu500Pro	coding	Pathogenic
6	13305429	T	C	T13305429C	TBC1D7	NM_016495.6(TBC1D7):c.796-242A>G	noncoding	Benign
6	13306099	G	A	G13306099A	TBC1D7	NM_016495.6(TBC1D7):c.795+299C>T	noncoding	Benign
6	13306122	C	T	C13306122T	TBC1D7	NM_016495.6(TBC1D7):c.795+276G>A	noncoding	Benign
6	13306296	A	T	A13306296T	TBC1D7	NM_016495.6(TBC1D7):c.795+102T>A	noncoding	Benign
6	13306725	T	C	T13306725C	TBC1D7	NM_016495.6(TBC1D7):c.666-198A>G	noncoding	Benign
6	13306814	C	T	C13306814T	TBC1D7	NM_016495.6(TBC1D7):c.666-287G>A	noncoding	Benign
6	13306845	G	A	G13306845A	TBC1D7	NM_016495.6(TBC1D7):c.666-318C>T	noncoding	Benign
6	13307288	C	T	C13307288T	TBC1D7	NM_016495.6(TBC1D7):c.665+312G>A	noncoding	Benign
6	13307304	G	A	G13307304A	TBC1D7	NM_016495.6(TBC1D7):c.665+296C>T	noncoding	Benign
6	13307592	C	T	C13307592T	TBC1D7	NM_016495.6(TBC1D7):c.665+8G>A	noncoding	Benign
6	13307851	T	C	T13307851C	TBC1D7	NM_016495.6(TBC1D7):c.520-106A>G	noncoding	Benign
6	13307950	T	C	T13307950C	TBC1D7	NM_016495.6(TBC1D7):c.520-205A>G	noncoding	Benign
6	13308057	A	G	A13308057G	TBC1D7	NM_016495.6(TBC1D7):c.520-312T>C	noncoding	Benign
6	13316387	G	A	G13316387A	TBC1D7	NM_016495.6(TBC1D7):c.519+184C>T	noncoding	Benign
6	13316405	G	C	G13316405C	TBC1D7	NM_016495.6(TBC1D7):c.519+166C>G	noncoding	Benign
6	13316426	T	C	T13316426C	TBC1D7	NM_016495.6(TBC1D7):c.519+145A>G	noncoding	Benign
6	13316573	A	G	A13316573G	TBC1D7	NM_016495.6(TBC1D7):c.517T>C:p.Leu173=	coding	Benign
6	13316852	C	A	C13316852A	TBC1D7	NM_016495.6(TBC1D7):c.382-144G>T	noncoding	Benign
6	13320865	G	A	G13320865A	TBC1D7	NM_016495.6(TBC1D7):c.381+43C>T	noncoding	Benign
6	13325047	C	T	C13325047T	TBC1D7	NM_016495.6(TBC1D7):c.193+47G>A	noncoding	Benign
6	13327234	G	A	G13327234A	TBC1D7	NM_016495.6(TBC1D7):c.-8-328C>T	noncoding	Benign
6	13574110	G	A	G13574110A	SIRT5	Single_allele	noncoding	Benign
6	15496431	C	T	C15496431T	JARID2	NM_004973.4(JARID2):c.1206C>T:p.Pro402=	coding	Benign
6	15522870	T	C	T15522870C	DTNBP1	NM_032122.5(DTNBP1):c.*105A>G	noncoding	Benign
6	15524157	G	T	G15524157T	DTNBP1	NM_032122.5(DTNBP1):c.811+369C>A	coding	Benign
6	15524249	G	A	G15524249A	DTNBP1	NM_032122.5(DTNBP1):c.811+277C>T	coding	Benign
6	15524250	T	C	T15524250C	DTNBP1	NM_032122.5(DTNBP1):c.811+276A>G	coding	Benign
6	15524368	A	G	A15524368G	DTNBP1	NM_032122.5(DTNBP1):c.811+158T>C	coding	Benign
6	15524926	C	T	C15524926T	DTNBP1	NM_032122.5(DTNBP1):c.668-257G>A	noncoding	Benign
6	15533502	C	T	C15533502T	DTNBP1	NM_032122.5(DTNBP1):c.512-107G>A	noncoding	Benign
6	15533720	C	T	C15533720T	DTNBP1	NM_032122.5(DTNBP1):c.512-325G>A	noncoding	Benign
6	15592995	G	A	G15592995A	DTNBP1	NM_032122.5(DTNBP1):c.511+64C>T	noncoding	Benign
6	15593043	A	T	A15593043T	DTNBP1	NM_032122.5(DTNBP1):c.511+16T>A	noncoding	Benign
6	15615317	T	C	T15615317C	DTNBP1	NM_032122.5(DTNBP1):c.438A>G:p.Arg146=	coding	Benign
6	15627322	C	G	C15627322G	DTNBP1	NM_032122.5(DTNBP1):c.355+21G>C	noncoding	Benign/Likely_benign
6	15627493	G	A	G15627493A	DTNBP1	NM_032122.5(DTNBP1):c.223-18C>T	noncoding	Benign
6	15627540	C	T	C15627540T	DTNBP1	NM_032122.5(DTNBP1):c.223-65G>A	noncoding	Benign
6	15637909	C	A	C15637909A	DTNBP1	NM_032122.5(DTNBP1):c.162-105G>T	noncoding	Benign
6	15662552	C	G	C15662552G	DTNBP1	NM_032122.5(DTNBP1):c.56+262G>C	noncoding	Benign
6	15662660	G	A	G15662660A	DTNBP1	NM_032122.5(DTNBP1):c.56+154C>T	noncoding	Benign
6	16143159	A	C	A16143159C	MYLIP	NM_013262.4(MYLIP):c.604A>C:p.Ile202Leu	coding	Benign
6	16143849	G	A	G16143849A	MYLIP	NM_013262.4(MYLIP):c.813G>A:p.Thr271=	coding	Benign
6	16145094	A	G	A16145094G	MYLIP	NM_013262.4(MYLIP):c.1025A>G:p.Asn342Ser	coding	Benign
6	16145242	C	T	C16145242T	MYLIP	NM_013262.4(MYLIP):c.1173C>T:p.Cys391=	coding	Benign
6	16326380	C	A	C16326380A	ATXN1	NM_001128164.2(ATXN1):c.1917+14G>T	noncoding	Benign
6	16327837	T	C	T16327837C	ATXN1	NM_001128164.2(ATXN1):c.474A>G:p.Ala158=	coding	Benign
6	17543071	A	G	A17543071G	CAP2	NM_006366.3(CAP2):c.1137A>G:p.Lys379=	coding	Benign
6	18121788	G	A	G18121788A	NHLRC1	NM_198586.3(NHLRC1):c.819C>T:p.Thr273=	coding	Benign/Likely_benign
6	18122103	C	A	C18122103A	NHLRC1	NM_198586.3(NHLRC1):c.504G>T:p.Gly168=	coding	Benign
6	18122239	C	T	C18122239T	NHLRC1	NM_198586.3(NHLRC1):c.368G>A:p.Trp123Ter	coding	Pathogenic
6	21593970	C	A	C21593970A	SOX4	NM_003107.3(SOX4):c.-565C>A	noncoding	Benign
6	21594823	T	G	T21594823G	SOX4	NM_003107.3(SOX4):c.289T>G:p.Trp97Gly	coding	Pathogenic
6	21595200	C	A	C21595200A	SOX4	NM_003107.3(SOX4):c.666C>A:p.Gly222_Gly223=	coding	Benign
6	21595481	C	T	C21595481T	SOX4	NM_003107.3(SOX4):c.947C>T:p.Ala316Val	coding	Benign
6	21595509	C	G	C21595509G	SOX4	NM_003107.3(SOX4):c.975C>G:p.Tyr325Ter	coding	Pathogenic
6	24174446	A	G	A24174446G	DCDC2	NM_016356.5(DCDC2):c.*284T>C	noncoding	Benign
6	24174575	A	C	A24174575C	DCDC2	NM_016356.5(DCDC2):c.*155T>G	noncoding	Benign
6	24174606	T	A	T24174606A	DCDC2	NM_016356.5(DCDC2):c.*124A>T	noncoding	Benign
6	24174727	G	C	G24174727C	DCDC2	NM_016356.5(DCDC2):c.*3C>G	noncoding	Benign
6	24175091	A	G	A24175091G	DCDC2	NM_016356.5(DCDC2):c.1327-257T>C	noncoding	Benign
6	24178078	G	A	G24178078A	DCDC2	NM_016356.5(DCDC2):c.1326+252C>T	noncoding	Benign
6	24178448	C	T	C24178448T	DCDC2	NM_016356.5(DCDC2):c.1208G>A:p.Arg403His	coding	Benign/Likely_benign
6	24178770	C	T	C24178770T	DCDC2	NM_016356.5(DCDC2):c.1024-138G>A	noncoding	Benign
6	24178771	G	A	G24178771A	DCDC2	NM_016356.5(DCDC2):c.1024-139C>T	noncoding	Benign
6	24178833	C	G	C24178833G	DCDC2	NM_016356.5(DCDC2):c.1024-201G>C	noncoding	Benign
6	24204757	A	G	A24204757G	DCDC2	NM_016356.5(DCDC2):c.1023+245T>C	noncoding	Benign
6	24205236	C	A	C24205236A	DCDC2	NM_016356.5(DCDC2):c.923-134G>T	noncoding	Benign
6	24277772	A	G	A24277772G	DCDC2	NM_016356.5(DCDC2):c.922+277T>C	noncoding	Benign
6	24278346	A	G	A24278346G	DCDC2	NM_016356.5(DCDC2):c.760-135T>C	noncoding	Benign
6	24288692	T	C	T24288692C	DCDC2	NM_016356.5(DCDC2):c.759+160A>G	noncoding	Benign
6	24289074	A	G	A24289074G	DCDC2	NM_016356.5(DCDC2):c.705-168T>C	noncoding	Benign
6	24301503	T	A	T24301503A	DCDC2	NM_016356.5(DCDC2):c.557+212A>T	noncoding	Benign
6	24301714	C	A	C24301714A	DCDC2	NM_016356.5(DCDC2):c.557+1G>T	noncoding	Pathogenic
6	24301859	G	A	G24301859A	DCDC2	NM_016356.5(DCDC2):c.426-13C>T	noncoding	Benign
6	24301881	A	G	A24301881G	DCDC2	NM_016356.5(DCDC2):c.426-35T>C	noncoding	Benign
6	24301954	G	T	G24301954T	DCDC2	NM_016356.5(DCDC2):c.425+14C>A	noncoding	Benign
6	24353379	T	C	T24353379C	DCDC2	NM_016356.5(DCDC2):c.348+190A>G	noncoding	Benign
6	24353514	A	G	A24353514G	DCDC2	NM_016356.5(DCDC2):c.348+55T>C	noncoding	Benign
6	24353571	C	A	C24353571A	DCDC2	NM_016356.5(DCDC2):c.346G>T:p.Glu116Ter	coding	Pathogenic
6	24353817	T	C	T24353817C	DCDC2	NM_016356.5(DCDC2):c.294-194A>G	noncoding	Benign
6	24357974	G	A	G24357974A	DCDC2	NM_016356.5(DCDC2):c.-224C>T	noncoding	Benign
6	24358035	G	A	G24358035A	DCDC2	NM_016356.5(DCDC2):c.-285C>T	noncoding	Benign
6	24358255	G	C	G24358255C	DCDC2	NM_001195610.2(DCDC2):c.-97-408C>G	noncoding	Benign
6	24494696	C	T	C24494696T	ALDH5A1	Single_allele	noncoding	Benign
6	24494747	C	G	C24494747G	ALDH5A1	Single_allele	noncoding	Benign
6	24494776	C	T	C24494776T	ALDH5A1	Single_allele	noncoding	Benign
6	24494822	C	G	C24494822G	ALDH5A1	Single_allele	noncoding	Benign
6	24495314	C	G	C24495314G	ALDH5A1	NM_001080.3(ALDH5A1):c.318C>G:p.Tyr106Ter	coding	Pathogenic
6	24495317	G	A	G24495317A	ALDH5A1	NM_001080.3(ALDH5A1):c.321G>A:p.Glu107=	coding	Pathogenic
6	24495348	A	T	A24495348T	ALDH5A1	NM_001080.3(ALDH5A1):c.352A>T:p.Lys118Ter	coding	Pathogenic
6	24495377	A	G	A24495377G	ALDH5A1	NM_001080.3(ALDH5A1):c.354+27A>G	noncoding	Benign
6	24495413	C	T	C24495413T	ALDH5A1	NM_001080.3(ALDH5A1):c.354+63C>T	noncoding	Benign
6	24495535	T	G	T24495535G	ALDH5A1	NM_001080.3(ALDH5A1):c.354+185T>G	noncoding	Benign
6	24502351	G	A	G24502351A	ALDH5A1	NM_001080.3(ALDH5A1):c.355-172G>A	noncoding	Benign
6	24502451	T	C	T24502451C	ALDH5A1	NM_001080.3(ALDH5A1):c.355-72T>C	noncoding	Benign
6	24503634	G	T	G24503634T	ALDH5A1	NM_001080.3(ALDH5A1):c.609+201G>T	noncoding	Benign
6	24503670	G	A	G24503670A	ALDH5A1	NM_001080.3(ALDH5A1):c.609+237G>A	noncoding	Benign
6	24504802	A	G	A24504802G	ALDH5A1	NM_001080.3(ALDH5A1):c.610-67A>G	noncoding	Benign
6	24505126	G	A	G24505126A	ALDH5A1	NM_001080.3(ALDH5A1):c.726+141G>A	noncoding	Benign
6	24515140	G	C	G24515140C	ALDH5A1	NM_001080.3(ALDH5A1):c.727-27G>C	noncoding	Benign
6	24515294	C	G	C24515294G	ALDH5A1	NM_001080.3(ALDH5A1):c.854C>G:p.Ser285Ter	coding	Pathogenic
6	24515324	G	A	G24515324A	ALDH5A1	NM_001080.3(ALDH5A1):c.870+14G>A	noncoding	Benign
6	24520344	C	T	C24520344T	ALDH5A1	NM_001080.3(ALDH5A1):c.871-57C>T	noncoding	Benign
6	24522532	G	A	G24522532A	ALDH5A1	NM_001080.3(ALDH5A1):c.1015-235G>A	noncoding	Benign
6	24522566	A	C	A24522566C	ALDH5A1	NM_001080.3(ALDH5A1):c.1015-201A>C	noncoding	Benign
6	24522766	G	C	G24522766C	ALDH5A1	NM_001080.3(ALDH5A1):c.1015-1G>C	noncoding	Pathogenic
6	24522946	G	A	G24522946A	ALDH5A1	NM_001080.3(ALDH5A1):c.1173+21G>A	noncoding	Benign
6	24527681	G	A	G24527681A	ALDH5A1	NM_001080.3(ALDH5A1):c.1174-316G>A	noncoding	Benign
6	24527854	A	G	A24527854G	ALDH5A1	NM_001080.3(ALDH5A1):c.1174-143A>G	noncoding	Benign
6	24527865	C	T	C24527865T	ALDH5A1	NM_001080.3(ALDH5A1):c.1174-132C>T	noncoding	Benign
6	24531967	G	C	G24531967C	ALDH5A1	NM_001080.3(ALDH5A1):c.1344-152G>C	noncoding	Benign
6	24532419	A	G	A24532419G	ALDH5A1	NM_001080.3(ALDH5A1):c.1402+242A>G	noncoding	Benign
6	24533228	C	T	C24533228T	ALDH5A1	NM_001080.3(ALDH5A1):c.1403-279C>T	noncoding	Benign
6	24533231	G	T	G24533231T	ALDH5A1	NM_001080.3(ALDH5A1):c.1403-276G>T	noncoding	Benign
6	24533277	G	C	G24533277C	ALDH5A1	NM_001080.3(ALDH5A1):c.1403-230G>C	noncoding	Benign
6	24533295	A	C	A24533295C	ALDH5A1	NM_001080.3(ALDH5A1):c.1403-212A>C	noncoding	Benign
6	24533327	A	T	A24533327T	ALDH5A1	NM_001080.3(ALDH5A1):c.1403-180A>T	noncoding	Benign
6	24533644	C	T	C24533644T	ALDH5A1	NM_001080.3(ALDH5A1):c.1540C>T:p.Arg514Ter	coding	Pathogenic
6	24780497	C	T	C24780497T	GMNN	NM_015895.5(GMNN):c.52-166C>T	noncoding	Benign
6	24780664	A	C	A24780664C	GMNN	NM_015895.5(GMNN):c.53A>C:p.Asn18Thr	coding	Benign
6	24780716	A	C	A24780716C	GMNN	NM_015895.5(GMNN):c.105A>C:p.Gly35=	coding	Benign
6	24780797	A	G	A24780797G	GMNN	NM_015895.5(GMNN):c.129+57A>G	noncoding	Benign
6	24781491	G	C	G24781491C	GMNN	NM_015895.5(GMNN):c.144G>C:p.Leu48Phe	coding	Benign
6	24781507	C	T	C24781507T	GMNN	NM_015895.5(GMNN):c.160C>T:p.Arg54Trp	coding	Benign
6	24781633	T	C	T24781633C	GMNN	NM_015895.5(GMNN):c.274+12T>C	noncoding	Benign
6	24783824	C	T	C24783824T	GMNN	NM_015895.5(GMNN):c.275-263C>T	noncoding	Benign
6	24784208	C	T	C24784208T	GMNN	NM_015895.5(GMNN):c.357+39C>T	noncoding	Benign
6	24784433	A	T	A24784433T	GMNN	NM_015895.5(GMNN):c.358-11A>T	noncoding	Benign
6	24784663	G	A	G24784663A	GMNN	NM_015895.5(GMNN):c.468+109G>A	noncoding	Benign
6	24784811	T	C	T24784811C	GMNN	NM_015895.5(GMNN):c.468+257T>C	noncoding	Benign
6	24785354	C	G	C24785354G	GMNN	NM_015895.5(GMNN):c.469-284C>G	noncoding	Benign
6	24785460	A	G	A24785460G	GMNN	NM_015895.5(GMNN):c.469-178A>G	noncoding	Benign
6	24786043	C	T	C24786043T	GMNN	NM_015895.5(GMNN):c.*244C>T	noncoding	Benign
6	24806524	A	C	A24806524C	RIPOR2	NM_001286445.3(RIPOR2):c.3044-51T>G	noncoding	Benign
6	24806549	T	A	T24806549A	RIPOR2	NM_001286445.3(RIPOR2):c.3044-76A>T	noncoding	Benign
6	24806695	A	C	A24806695C	RIPOR2	NM_001286445.3(RIPOR2):c.3044-222T>G	noncoding	Benign
6	24809543	A	G	A24809543G	RIPOR2	NM_001286445.3(RIPOR2):c.3043+174T>C	noncoding	Benign
6	24809625	C	T	C24809625T	RIPOR2	NM_001286445.3(RIPOR2):c.3043+92G>A	noncoding	Benign
6	24809646	A	C	A24809646C	RIPOR2	NM_001286445.3(RIPOR2):c.3043+71T>G	noncoding	Benign
6	24809653	T	A	T24809653A	RIPOR2	NM_001286445.3(RIPOR2):c.3043+64A>T	noncoding	Benign
6	24809854	G	A	G24809854A	RIPOR2	NM_001286445.3(RIPOR2):c.2953-47C>T	noncoding	Benign
6	24818531	C	A	C24818531A	RIPOR2	NM_001286445.3(RIPOR2):c.2952+11G>T	noncoding	Benign
6	24818791	G	A	G24818791A	RIPOR2	NM_001286445.3(RIPOR2):c.2869-166C>T	noncoding	Benign
6	24825292	G	A	G24825292A	RIPOR2	NM_001286445.3(RIPOR2):c.2802C>T:p.Asn934=	coding	Benign/Likely_benign
6	24827893	T	C	T24827893C	RIPOR2	NM_001286445.3(RIPOR2):c.2665+244A>G	noncoding	Benign
6	24828090	C	T	C24828090T	RIPOR2	NM_001286445.3(RIPOR2):c.2665+47G>A	noncoding	Benign
6	24828332	A	G	A24828332G	RIPOR2	NM_001286445.3(RIPOR2):c.2507-37T>C	noncoding	Benign
6	24830794	G	C	G24830794C	RIPOR2	NM_001286445.3(RIPOR2):c.2345-124C>G	noncoding	Benign
6	24832022	G	T	G24832022T	RIPOR2	NM_001286445.3(RIPOR2):c.2344+234C>A	noncoding	Benign
6	24832034	G	A	G24832034A	RIPOR2	NM_001286445.3(RIPOR2):c.2344+222C>T	noncoding	Benign
6	24832485	C	G	C24832485G	RIPOR2	NM_001286445.3(RIPOR2):c.2209-94G>C	noncoding	Benign
6	24832569	A	G	A24832569G	RIPOR2	NM_001286445.3(RIPOR2):c.2209-178T>C	noncoding	Benign
6	24832656	T	C	T24832656C	RIPOR2	NM_001286445.3(RIPOR2):c.2209-265A>G	noncoding	Benign
6	24835472	A	G	A24835472G	RIPOR2	NM_001286445.3(RIPOR2):c.2208+231T>C	noncoding	Benign
6	24835657	T	G	T24835657G	RIPOR2	NM_001286445.3(RIPOR2):c.2208+46A>C	noncoding	Benign
6	24835933	C	A	C24835933A	RIPOR2	NM_001286445.3(RIPOR2):c.2040-62G>T	noncoding	Benign
6	24838852	C	T	C24838852T	RIPOR2	NM_001286445.3(RIPOR2):c.2039+239G>A	noncoding	Benign
6	24838932	T	G	T24838932G	RIPOR2	NM_001286445.3(RIPOR2):c.2039+159A>C	noncoding	Benign
6	24838934	C	T	C24838934T	RIPOR2	NM_001286445.3(RIPOR2):c.2039+157G>A	noncoding	Benign
6	24839518	G	A	G24839518A	RIPOR2	NM_001286445.3(RIPOR2):c.1858-246C>T	coding	Benign
6	24839757	G	A	G24839757A	RIPOR2	NM_001286445.3(RIPOR2):c.1858-485C>T	coding	Benign
6	24840992	G	A	G24840992A	RIPOR2	NM_001286445.3(RIPOR2):c.1858-1720C>T	noncoding	Benign
6	24842962	G	A	G24842962A	RIPOR2	NM_001286445.3(RIPOR2):c.1757C>T:p.Ala586Val	coding	Benign/Likely_benign
6	24843027	A	C	A24843027C	RIPOR2	NM_001286445.3(RIPOR2):c.1692T>G:p.Ser564=	coding	Benign/Likely_benign
6	24847525	G	A	G24847525A	RIPOR2	NM_001286445.3(RIPOR2):c.1164+500C>T	noncoding	Benign/Likely_benign
6	24847655	G	A	G24847655A	RIPOR2	NM_001286445.3(RIPOR2):c.1164+370C>T	coding	Benign
6	24847657	C	T	C24847657T	RIPOR2	NM_001286445.3(RIPOR2):c.1164+368G>A	coding	Benign
6	24847858	A	G	A24847858G	RIPOR2	NM_001286445.3(RIPOR2):c.1164+167T>C	noncoding	Benign
6	24848037	G	C	G24848037C	RIPOR2	NM_001286445.3(RIPOR2):c.1152C>G:p.Asp384Glu	coding	Benign
6	24849719	C	T	C24849719T	RIPOR2	NM_001286445.3(RIPOR2):c.1034+83G>A	noncoding	Benign
6	24850487	A	G	A24850487G	RIPOR2	NM_001286445.3(RIPOR2):c.885+110T>C	noncoding	Benign
6	24852734	T	C	T24852734C	RIPOR2	NM_001286445.3(RIPOR2):c.716-116A>G	noncoding	Benign
6	24860965	A	G	A24860965G	RIPOR2	NM_001286445.3(RIPOR2):c.715+8T>C	noncoding	Benign
6	24861256	G	A	G24861256A	RIPOR2	NM_001286445.3(RIPOR2):c.652-220C>T	noncoding	Benign
6	24865095	A	G	A24865095G	RIPOR2	NM_001286445.3(RIPOR2):c.651+206T>C	noncoding	Benign
6	24865096	T	C	T24865096C	RIPOR2	NM_001286445.3(RIPOR2):c.651+205A>G	noncoding	Benign
6	24865100	G	A	G24865100A	RIPOR2	NM_001286445.3(RIPOR2):c.651+201C>T	noncoding	Benign
6	24865108	C	A	C24865108A	RIPOR2	NM_001286445.3(RIPOR2):c.651+193G>T	noncoding	Benign
6	24865466	C	G	C24865466G	RIPOR2	NM_001286445.3(RIPOR2):c.502-16G>C	noncoding	Benign
6	24869072	T	C	T24869072C	RIPOR2	NM_001286445.3(RIPOR2):c.501+22A>G	noncoding	Benign
6	24871129	T	C	T24871129C	RIPOR2	NM_001286445.3(RIPOR2):c.424-240A>G	noncoding	Benign
6	24872670	T	C	T24872670C	RIPOR2	NM_001286445.3(RIPOR2):c.423+211A>G	noncoding	Benign
6	24872711	G	A	G24872711A	RIPOR2	NM_001286445.3(RIPOR2):c.423+170C>T	noncoding	Benign
6	24873086	C	T	C24873086T	RIPOR2	NM_001286445.3(RIPOR2):c.345-127G>A	noncoding	Benign
6	24873223	G	T	G24873223T	RIPOR2	NM_001286445.3(RIPOR2):c.345-264C>A	noncoding	Benign
6	24873621	C	T	C24873621T	RIPOR2	NM_001286445.3(RIPOR2):c.344+23G>A	noncoding	Benign
6	24875398	C	A	C24875398A	RIPOR2	NM_001286445.3(RIPOR2):c.188+293G>T	noncoding	Benign
6	24875552	C	T	C24875552T	RIPOR2	NM_001286445.3(RIPOR2):c.188+139G>A	noncoding	Benign
6	24875586	C	G	C24875586G	RIPOR2	NM_001286445.3(RIPOR2):c.188+105G>C	noncoding	Benign
6	24875602	A	G	A24875602G	RIPOR2	NM_001286445.3(RIPOR2):c.188+89T>C	noncoding	Benign
6	24936164	G	A	G24936164A	RIPOR2	NM_001286446.3(RIPOR2):c.77-60347C>T	noncoding	Benign
6	25041763	A	G	A25041763G	RIPOR2	NM_001286446.3(RIPOR2):c.76+88T>C	noncoding	Benign
6	25042497	T	C	T25042497C	RIPOR2	Single_allele	noncoding	Benign
6	25776721	G	A	G25776721A	SLC17A4	NM_005495.3(SLC17A4):c.1114G>A:p.Ala372Thr	coding	Benign
6	26086974	G	C	G26086974C	HFE	NR_144383.1(HFE-AS1):n.1501C>G	noncoding	Benign
6	26087628	T	A	T26087628A	HFE	NM_000410.4(HFE):c.76+112T>A	noncoding	Benign
6	26090975	C	T	C26090975T	HFE	NM_000410.4(HFE):c.211C>T:p.Arg71Ter	coding	Pathogenic
6	26091387	C	G	C26091387G	HFE	NM_000410.4(HFE):c.414C>G:p.Tyr138Ter	coding	Pathogenic
6	26092389	A	C	A26092389C	HFE	NM_000410.4(HFE):c.617-296A>C	noncoding	Benign
6	26092637	C	G	C26092637G	HFE	NM_000410.4(HFE):c.617-48C>G	noncoding	Benign
6	26092976	G	C	G26092976C	HFE	NM_000410.4(HFE):c.892+16G>C	noncoding	Benign
6	26093075	T	C	T26093075C	HFE	NM_000410.4(HFE):c.893-44T>C	noncoding	Benign
6	26094139	G	A	G26094139A	HFE	NM_000410.4(HFE):c.1007-47G>A	noncoding	Benign
6	26104052	T	C	T26104052C	H4C3	NM_003542.4(H4C3):c.105T>C:p.Ile35=	coding	Benign
6	26104154	C	T	C26104154T	H4C3	NM_003542.4(H4C3):c.207C>T:p.Asp69=	coding	Benign
6	26104220	A	G	A26104220G	H4C3	NM_003542.4(H4C3):c.273A>G:p.Leu91=	coding	Benign
6	26104222	A	G	A26104222G	H4C3	NM_003542.4(H4C3):c.275A>G:p.Lys92Arg	coding	Pathogenic
6	26124624	G	T	G26124624T	H2AC6	NM_003512.4(H2AC6):c.392G>T:p.Ter131Leu	coding	Benign
6	26156852	C	T	C26156852T	H1-4	NM_005321.3(H1-4):c.462C>T:p.Thr154_Pro155=	coding	Benign
6	26370605	T	G	T26370605G	BTN3A2	NM_007047.5(BTN3A2):c.715+2T>G	noncoding	Benign
6	27824398	A	C	A27824398C	H4C11	NM_021968.4(H4C11):c.274A>C:p.Lys92Gln	coding	Pathogenic
6	27824398	A	G	A27824398G	H4C11	NM_021968.4(H4C11):c.274A>G:p.Lys92Glu	coding	Pathogenic
6	27824443	C	T	C27824443T	H4C11	NM_021968.4(H4C11):c.*7C>T	noncoding	Benign
6	27824450	T	C	T27824450C	H4C11	NM_021968.4(H4C11):c.*14T>C	noncoding	Benign
6	29673268	G	A	G29673268A	ZFP57	NM_001109809.5(ZFP57):c.843C>T:p.His281=	coding	Benign/Likely_benign
6	29673379	A	G	A29673379G	ZFP57	NM_001109809.5(ZFP57):c.732T>C:p.Ser244=	coding	Benign/Likely_benign
6	29675510	A	C	A29675510C	ZFP57	NM_001109809.5(ZFP57):c.251-23T>G	noncoding	Benign
6	29675713	A	G	A29675713G	ZFP57	NM_001109809.5(ZFP57):c.250+220T>C	noncoding	Benign
6	29676100	A	G	A29676100G	ZFP57	NM_001109809.5(ZFP57):c.124-41T>C	noncoding	Benign
6	29676725	C	T	C29676725T	ZFP57	NM_001109809.5(ZFP57):c.123+156G>A	noncoding	Benign
6	29676856	C	T	C29676856T	ZFP57	NM_001109809.5(ZFP57):c.123+25G>A	noncoding	Benign
6	29677193	T	C	T29677193C	ZFP57	NM_001109809.5(ZFP57):c.-190A>G	noncoding	Benign
6	29677261	C	A	C29677261A	ZFP57	NM_001109809.5(ZFP57):c.-258G>T	noncoding	Benign
6	29677341	G	C	G29677341C	ZFP57	NM_001109809.5(ZFP57):c.-338C>G	noncoding	Benign
6	30602597	G	A	G30602597A	PPP1R10	NM_002714.4(PPP1R10):c.2052C>T:p.Gly684=	coding	Benign
6	30700597	G	A	G30700597A	MDC1	NM_014641.3(MDC1):c.6138C>T:p.Phe2046=	coding	Benign
6	30719937	T	A	T30719937A	TUBB	Single_allele	noncoding	Benign
6	30720290	C	G	C30720290G	TUBB	Single_allele	noncoding	Benign
6	30720650	G	T	G30720650T	TUBB	NM_178014.4(TUBB):c.57+87G>T	noncoding	Benign
6	30720798	G	C	G30720798C	TUBB	NM_178014.4(TUBB):c.57+235G>C	noncoding	Benign
6	30722488	A	T	A30722488T	TUBB	NM_178014.4(TUBB):c.58-49A>T	noncoding	Benign
6	30722858	G	A	G30722858A	TUBB	NM_178014.4(TUBB):c.167-60G>A	noncoding	Benign
6	30723161	C	T	C30723161T	TUBB	NM_178014.4(TUBB):c.277+133C>T	noncoding	Benign
6	30723728	C	T	C30723728T	TUBB	NM_178014.4(TUBB):c.666C>T:p.Tyr222=	coding	Benign
6	30724023	A	G	A30724023G	TUBB	NM_178014.4(TUBB):c.961A>G:p.Met321Val	coding	Pathogenic
6	30724453	G	T	G30724453T	TUBB	NM_178014.4(TUBB):c.*56G>T	noncoding	Benign
6	30724454	C	T	C30724454T	TUBB	NM_178014.4(TUBB):c.*57C>T	noncoding	Benign
6	30914500	C	T	C30914500T	VARS2	NM_020442.6(VARS2):c.-28+156C>T	noncoding	Benign
6	30914736	A	G	A30914736G	VARS2	NM_020442.6(VARS2):c.-27-74A>G	noncoding	Benign
6	30915079	A	G	A30915079G	VARS2	NM_020442.6(VARS2):c.201+42A>G	noncoding	Benign
6	30916044	A	G	A30916044G	VARS2	NM_020442.6(VARS2):c.570A>G:p.Thr190=	coding	Benign
6	30916185	G	A	G30916185A	VARS2	NM_020442.6(VARS2):c.607G>A:p.Gly203Arg	coding	Benign
6	30916423	G	A	G30916423A	VARS2	NM_020442.6(VARS2):c.671+174G>A	noncoding	Benign
6	30916474	G	A	G30916474A	VARS2	NM_020442.6(VARS2):c.671+225G>A	noncoding	Benign
6	30916476	G	A	G30916476A	VARS2	NM_020442.6(VARS2):c.671+227G>A	noncoding	Benign
6	30916862	A	C	A30916862C	VARS2	NM_020442.6(VARS2):c.672-16A>C	noncoding	Benign/Likely_benign
6	30917029	A	C	A30917029C	VARS2	NM_020442.6(VARS2):c.753+70A>C	noncoding	Benign
6	30917688	C	T	C30917688T	VARS2	NM_020442.6(VARS2):c.874-7C>T	noncoding	Benign/Likely_benign
6	30917697	G	A	G30917697A	VARS2	NM_020442.6(VARS2):c.876G>A:p.Val292=	coding	Benign/Likely_benign
6	30917790	C	T	C30917790T	VARS2	NM_020442.6(VARS2):c.969C>T:p.Pro323=	coding	Benign/Likely_benign
6	30917862	A	G	A30917862G	VARS2	NM_020442.6(VARS2):c.985+56A>G	noncoding	Benign
6	30917909	T	A	T30917909A	VARS2	NM_020442.6(VARS2):c.985+103T>A	noncoding	Benign
6	30918906	G	A	G30918906A	VARS2	NM_020442.6(VARS2):c.1065G>A:p.Ser355=	coding	Benign/Likely_benign
6	30919465	G	A	G30919465A	VARS2	NM_020442.6(VARS2):c.1075-293G>A	noncoding	Benign
6	30920084	C	A	C30920084A	VARS2	NM_020442.6(VARS2):c.1166-5C>A	noncoding	Benign
6	30920840	G	A	G30920840A	VARS2	NM_020442.6(VARS2):c.1479+91G>A	noncoding	Benign
6	30921302	G	A	G30921302A	VARS2	NM_020442.6(VARS2):c.1629G>A:p.Ala543=	coding	Benign
6	30921343	A	G	A30921343G	VARS2	NM_020442.6(VARS2):c.1632+38A>G	noncoding	Benign
6	30921483	G	A	G30921483A	VARS2	NM_020442.6(VARS2):c.1633-106G>A	noncoding	Benign
6	30922278	T	C	T30922278C	VARS2	NM_020442.6(VARS2):c.1932+37T>C	noncoding	Benign
6	30922418	A	G	A30922418G	VARS2	NM_020442.6(VARS2):c.1933-32A>G	noncoding	Benign
6	30922429	T	C	T30922429C	VARS2	NM_020442.6(VARS2):c.1933-21T>C	noncoding	Benign
6	30922446	C	T	C30922446T	VARS2	NM_020442.6(VARS2):c.1933-4C>T	noncoding	Benign/Likely_benign
6	30922654	A	G	A30922654G	VARS2	NM_020442.6(VARS2):c.2038-52A>G	noncoding	Benign
6	30922705	G	A	G30922705A	VARS2	NM_020442.6(VARS2):c.2038-1G>A	noncoding	Pathogenic
6	30922758	T	C	T30922758C	VARS2	NM_020442.6(VARS2):c.2090T>C:p.Ile697Thr	coding	Benign/Likely_benign
6	30923012	G	A	G30923012A	VARS2	NM_020442.6(VARS2):c.2185+36G>A	noncoding	Benign
6	30923211	G	A	G30923211A	VARS2	NM_020442.6(VARS2):c.2293G>A:p.Val765Met	coding	Benign/Likely_benign
6	30923364	C	T	C30923364T	VARS2	NM_020442.6(VARS2):c.2325C>T:p.Ser775=	coding	Benign
6	30924277	A	G	A30924277G	VARS2	NM_020442.6(VARS2):c.2467-77A>G	noncoding	Benign
6	30924387	C	T	C30924387T	VARS2	NM_020442.6(VARS2):c.2500C>T:p.Arg834Cys	coding	Benign/Likely_benign
6	30924600	G	C	G30924600C	VARS2	NM_020442.6(VARS2):c.2673+40G>C	noncoding	Benign
6	30925304	C	T	C30925304T	VARS2	NM_020442.6(VARS2):c.2704C>T:p.Arg902Cys	coding	Benign
6	30925349	C	T	C30925349T	VARS2	NM_020442.6(VARS2):c.2749C>T:p.Arg917Ter	coding	Pathogenic
6	30925358	T	C	T30925358C	VARS2	NM_020442.6(VARS2):c.2758T>C:p.Tyr920His	coding	Pathogenic
6	30925449	C	G	C30925449G	VARS2	NM_020442.6(VARS2):c.2785+64C>G	noncoding	Benign
6	30925474	G	A	G30925474A	VARS2	NM_020442.6(VARS2):c.2786-70G>A	noncoding	Benign
6	30925922	C	T	C30925922T	VARS2	NM_020442.6(VARS2):c.3004C>T:p.Arg1002Ter	coding	Pathogenic
6	30926054	G	A	G30926054A	VARS2	NM_020442.6(VARS2):c.3090+46G>A	noncoding	Benign
6	30926093	T	C	T30926093C	VARS2	NM_020442.6(VARS2):c.3091-16T>C	noncoding	Benign/Likely_benign
6	30926099	C	T	C30926099T	VARS2	NM_020442.6(VARS2):c.3091-10C>T	noncoding	Benign/Likely_benign
6	31115879	G	A	G31115879A	CDSN	NM_001264.5(CDSN):c.*146C>T	noncoding	Benign
6	31115887	G	A	G31115887A	CDSN	NM_001264.5(CDSN):c.*138C>T	noncoding	Benign
6	31115952	A	C	A31115952C	CDSN	NM_001264.5(CDSN):c.*73T>G	noncoding	Benign
6	31116036	T	C	T31116036C	CDSN	NM_001264.5(CDSN):c.1579A>G:p.Asn527Asp	coding	Benign
6	31116271	A	G	A31116271G	CDSN	NM_001264.5(CDSN):c.1344T>C:p.Cys448=	coding	Benign
6	31116298	G	C	G31116298C	CDSN	NM_001264.5(CDSN):c.1317C>G:p.Ser439=	coding	Benign
6	31116298	G	T	G31116298T	CDSN	NM_001264.5(CDSN):c.1317C>A:p.Ser439=	coding	Benign
6	31116386	A	G	A31116386G	CDSN	NM_001264.5(CDSN):c.1229T>C:p.Leu410Ser	coding	Benign
6	31116389	C	A	C31116389A	CDSN	NM_001264.5(CDSN):c.1226G>T:p.Gly409Val	coding	Benign
6	31116393	A	C	A31116393C	CDSN	NM_001264.5(CDSN):c.1222T>G:p.Ser408Ala	coding	Benign
6	31116414	T	C	T31116414C	CDSN	NM_001264.5(CDSN):c.1201A>G:p.Ser401Gly	coding	Benign
6	31116511	T	C	T31116511C	CDSN	NM_001264.5(CDSN):c.1104A>G:p.Ala368=	coding	Benign
6	31116658	G	A	G31116658A	CDSN	NM_001264.5(CDSN):c.957C>T:p.Tyr319=	coding	Benign
6	31116862	C	T	C31116862T	CDSN	NM_001264.5(CDSN):c.753G>A:p.Arg251=	coding	Benign
6	31116907	G	A	G31116907A	CDSN	NM_001264.5(CDSN):c.708C>T:p.Ser236=	coding	Benign
6	31117010	A	G	A31117010G	CDSN	NM_001264.5(CDSN):c.605T>C:p.Phe202Ser	coding	Benign
6	31117015	C	T	C31117015T	CDSN	NM_001264.5(CDSN):c.600G>A:p.Gln200=	coding	Benign
6	31117187	T	C	T31117187C	CDSN	NM_001264.5(CDSN):c.428A>G:p.Asn143Ser	coding	Benign
6	31117423	A	G	A31117423G	CDSN	NM_001264.5(CDSN):c.192T>C:p.Gly64=	coding	Benign
6	31117449	G	A	G31117449A	CDSN	NM_001264.5(CDSN):c.166C>T:p.Leu56Phe	coding	Benign/Likely_benign
6	31117492	A	G	A31117492G	CDSN	NM_001264.5(CDSN):c.123T>C:p.Pro41=	coding	Benign
6	31117563	G	A	G31117563A	CDSN	NM_001264.5(CDSN):c.86-34C>T	noncoding	Benign
6	31117579	C	T	C31117579T	CDSN	NM_001264.5(CDSN):c.86-50G>A	noncoding	Benign
6	31117605	C	A	C31117605A	CDSN	NM_001264.5(CDSN):c.86-76G>T	noncoding	Benign
6	31117770	G	C	G31117770C	CDSN	NM_001264.5(CDSN):c.86-241C>G	noncoding	Benign
6	31117786	G	A	G31117786A	CDSN	NM_001264.5(CDSN):c.86-257C>T	noncoding	Benign
6	31120131	T	G	T31120131G	CDSN	NM_001264.5(CDSN):c.85+204A>C	noncoding	Benign
6	31120157	G	A	G31120157A	CDSN	NM_001264.5(CDSN):c.85+178C>T	noncoding	Benign
6	31120260	T	C	T31120260C	CDSN	NM_001264.5(CDSN):c.85+75A>G	noncoding	Benign
6	31120299	G	A	G31120299A	CDSN	NM_001264.5(CDSN):c.85+36C>T	noncoding	Benign
6	31120368	T	A	T31120368A	CDSN	NM_001264.5(CDSN):c.52A>T:p.Met18Leu	coding	Benign
6	31120425	A	G	A31120425G	CDSN	NM_001264.5(CDSN):c.-6T>C	noncoding	Benign
6	31120455	A	G	A31120455G	CDSN	NM_014068.3(PSORS1C1):c.-228-5221A>G	noncoding	Benign
6	31120464	C	T	C31120464T	CDSN	NM_014068.3(PSORS1C1):c.-228-5212C>T	noncoding	Benign
6	31120548	A	G	A31120548G	CDSN	NM_014068.3(PSORS1C1):c.-228-5128A>G	noncoding	Benign
6	31120802	A	G	A31120802G	CDSN	NM_014068.3(PSORS1C1):c.-228-4874A>G	noncoding	Benign
6	31144960	C	A	C31144960A	CCHCR1	NM_001105564.2(CCHCR1):c.1990G>T:p.Gly664Cys	coding	Benign
6	31154705	G	A	G31154705A	CCHCR1	NM_001105564.2(CCHCR1):c.592C>T:p.Arg198Trp	coding	Benign
6	31154723	G	A	G31154723A	CCHCR1	NM_001105564.2(CCHCR1):c.574C>T:p.Arg192Trp	coding	Benign
6	31161533	C	T	C31161533T	TCF19	NM_007109.3(TCF19):c.325C>T:p.Pro109Ser	coding	Benign
6	31161839	A	G	A31161839G	TCF19	NM_007109.3(TCF19):c.631A>G:p.Met211Val	coding	Benign
6	31271845	C	A	C31271845A	HLA-C	NM_002117.6(HLA-C):c.97G>T:p.Asp33Tyr	coding	Benign
6	31632527	G	C	G31632527C	PRRC2A	NM_004638.4(PRRC2A):c.3854G>C:p.Gly1285Ala	coding	Benign
6	31666793	A	C	A31666793C	CSNK2B	NM_001320.7(CSNK2B):c.-11-28A>C	noncoding	Benign
6	31666832	A	G	A31666832G	CSNK2B	NM_001320.7(CSNK2B):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
6	31666833	T	G	T31666833G	CSNK2B	NM_001320.7(CSNK2B):c.2T>G:p.Met1Arg	coding	Pathogenic
6	31666981	G	A	G31666981A	CSNK2B	NM_001320.7(CSNK2B):c.72+78G>A	noncoding	Benign
6	31667886	C	T	C31667886T	CSNK2B	NM_001320.7(CSNK2B):c.91C>T:p.Gln31Ter	coding	Pathogenic
6	31667889	G	T	G31667889T	CSNK2B	NM_001320.7(CSNK2B):c.94G>T:p.Asp32Tyr	coding	Pathogenic
6	31667934	C	T	C31667934T	CSNK2B	NM_001320.7(CSNK2B):c.139C>T:p.Arg47Ter	coding	Pathogenic
6	31668592	G	A	G31668592A	CSNK2B	NM_001320.7(CSNK2B):c.229G>A:p.Glu77Lys	coding	Pathogenic
6	31668649	C	T	C31668649T	CSNK2B	NM_001320.7(CSNK2B):c.286C>T:p.Gln96Ter	coding	Pathogenic
6	31668965	A	G	A31668965G	CSNK2B	NM_001320.7(CSNK2B):c.292-132A>G	noncoding	Benign
6	31669095	A	C	A31669095C	CSNK2B	NM_001320.7(CSNK2B):c.292-2A>C	noncoding	Pathogenic
6	31669095	A	G	A31669095G	CSNK2B	NM_001320.7(CSNK2B):c.292-2A>G	noncoding	Pathogenic/Likely_pathogenic
6	31669109	C	T	C31669109T	CSNK2B	NM_001320.7(CSNK2B):c.304C>T:p.Gln102Ter	coding	Pathogenic
6	31669137	G	C	G31669137C	CSNK2B	NM_001320.7(CSNK2B):c.332G>C:p.Arg111Pro	coding	Pathogenic
6	31669154	C	T	C31669154T	CSNK2B	NM_001320.7(CSNK2B):c.349C>T:p.Gln117Ter	coding	Pathogenic
6	31669173	G	A	G31669173A	CSNK2B	NM_001320.7(CSNK2B):c.367+1G>A	coding	Pathogenic
6	31669361	G	A	G31669361A	CSNK2B	NM_001320.7(CSNK2B):c.410G>A:p.Cys137Tyr	coding	Pathogenic
6	31669418	G	A	G31669418A	CSNK2B	NM_001320.7(CSNK2B):c.467G>A:p.Gly156Asp	coding	Pathogenic
6	31669425	C	G	C31669425G	CSNK2B	NM_001320.7(CSNK2B):c.474C>G:p.Tyr158Ter	coding	Pathogenic
6	31669445	A	G	A31669445G	CSNK2B	NM_001320.7(CSNK2B):c.494A>G:p.His165Arg	coding	Pathogenic/Likely_pathogenic
6	31669509	G	A	G31669509A	CSNK2B	NM_001320.7(CSNK2B):c.557+1G>A	coding	Pathogenic
6	31669957	A	T	A31669957T	CSNK2B	NM_001320.7(CSNK2B):c.*31A>T	noncoding	Benign
6	31670030	C	T	C31670030T	CSNK2B	NM_001320.7(CSNK2B):c.*104C>T	noncoding	Benign
6	31688041	C	T	C31688041T	ABHD16A	NM_021160.3(ABHD16A):c.1370G>A:p.Arg457Gln	coding	Pathogenic
6	31691587	G	A	G31691587A	ABHD16A	NM_021160.3(ABHD16A):c.835C>T:p.Gln279Ter	coding	Pathogenic
6	31700945	G	A	G31700945A	ABHD16A	NM_021160.3(ABHD16A):c.340C>T:p.Arg114Ter	coding	Pathogenic
6	31724609	C	G	C31724609G	MPIG6B	NM_138272.3(MPIG6B):c.523C>G:p.Arg175Gly	coding	Benign
6	31744026	G	A	G31744026A	MSH5	NM_172166.4(MSH5):c.537+1G>A	coding	Pathogenic
6	31758201	C	G	C31758201G	MSH5	NM_172166.4(MSH5):c.1051C>G:p.Arg351Gly	coding	Pathogenic
6	31781739	C	T	C31781739T	VARS1	NM_006295.3(VARS1):c.2370G>A:p.Trp790Ter	coding	Pathogenic
6	31810300	T	G	T31810300G	HSPA1L	NM_005527.4(HSPA1L):c.1673A>C:p.Glu558Ala	coding	Benign
6	31859858	T	C	T31859858C	NEU1	NM_000434.4(NEU1):c.1109A>G:p.Tyr370Cys	coding	Pathogenic
6	31859928	G	A	G31859928A	NEU1	NM_000434.4(NEU1):c.1039C>T:p.Arg347Ter	coding	Pathogenic
6	31860027	C	G	C31860027G	NEU1	NM_000434.4(NEU1):c.1021+15G>C	noncoding	Benign
6	31860042	G	A	G31860042A	NEU1	NM_000434.4(NEU1):c.1021C>T:p.Arg341Ter	coding	Pathogenic
6	31860081	C	T	C31860081T	NEU1	NM_000434.4(NEU1):c.982G>A:p.Gly328Ser	coding	Pathogenic
6	31864537	G	A	G31864537A	SLC44A4	NM_025257.3(SLC44A4):c.2011+115C>T	noncoding	Benign
6	31865296	G	C	G31865296C	SLC44A4	NM_025257.3(SLC44A4):c.1760+19C>G	noncoding	Benign
6	31865299	G	C	G31865299C	SLC44A4	NM_025257.3(SLC44A4):c.1760+16C>G	noncoding	Benign
6	31865676	G	A	G31865676A	SLC44A4	NM_025257.3(SLC44A4):c.1582+14C>T	noncoding	Benign
6	31865727	G	A	G31865727A	SLC44A4	NM_025257.3(SLC44A4):c.1545C>T:p.Ala515=	coding	Benign
6	31865883	G	A	G31865883A	SLC44A4	NM_025257.3(SLC44A4):c.1477C>T:p.Arg493Cys	coding	Benign
6	31869050	T	G	T31869050G	SLC44A4	NM_025257.3(SLC44A4):c.1233+105A>C	noncoding	Benign
6	31869199	G	A	G31869199A	SLC44A4	NM_025257.3(SLC44A4):c.1189C>T:p.Pro397Ser	coding	Benign
6	31869272	A	C	A31869272C	SLC44A4	NM_025257.3(SLC44A4):c.1131-15T>G	noncoding	Benign
6	31869289	C	T	C31869289T	SLC44A4	NM_025257.3(SLC44A4):c.1131-32G>A	noncoding	Benign
6	31869473	G	A	G31869473A	SLC44A4	NM_025257.3(SLC44A4):c.1130+72C>T	noncoding	Benign
6	31869500	C	A	C31869500A	SLC44A4	NM_025257.3(SLC44A4):c.1130+45G>T	noncoding	Benign
6	31869685	T	C	T31869685C	SLC44A4	NM_025257.3(SLC44A4):c.1038-48A>G	noncoding	Benign
6	31869714	A	G	A31869714G	SLC44A4	NM_025257.3(SLC44A4):c.1038-77T>C	noncoding	Benign
6	31869726	C	G	C31869726G	SLC44A4	NM_025257.3(SLC44A4):c.1038-89G>C	noncoding	Benign
6	31870664	T	C	T31870664C	SLC44A4	NM_025257.3(SLC44A4):c.976A>G:p.Met326Val	coding	Benign
6	31870713	C	T	C31870713T	SLC44A4	NM_025257.3(SLC44A4):c.938-11G>A	noncoding	Benign
6	31870768	G	A	G31870768A	SLC44A4	NM_025257.3(SLC44A4):c.937+44C>T	noncoding	Benign
6	31870803	G	A	G31870803A	SLC44A4	NM_025257.3(SLC44A4):c.937+9C>T	noncoding	Benign
6	31870850	C	G	C31870850G	SLC44A4	NM_025257.3(SLC44A4):c.899G>C:p.Ser300Thr	coding	Benign
6	31870936	G	A	G31870936A	SLC44A4	NM_025257.3(SLC44A4):c.813C>T:p.Tyr271=	coding	Benign
6	31870983	G	T	G31870983T	SLC44A4	NM_025257.3(SLC44A4):c.766C>A:p.Pro256Thr	coding	Benign
6	31871163	C	T	C31871163T	SLC44A4	NM_025257.3(SLC44A4):c.702-116G>A	noncoding	Benign
6	31871518	C	T	C31871518T	SLC44A4	NM_025257.3(SLC44A4):c.573G>A:p.Ala191=	coding	Benign
6	31871532	C	T	C31871532T	SLC44A4	NM_025257.3(SLC44A4):c.559G>A:p.Val187Ile	coding	Benign
6	31871554	C	T	C31871554T	SLC44A4	NM_025257.3(SLC44A4):c.537G>A:p.Gly179=	coding	Benign
6	31871717	C	T	C31871717T	SLC44A4	NM_025257.3(SLC44A4):c.530-156G>A	noncoding	Benign
6	31874821	T	A	T31874821A	SLC44A4	NM_025257.3(SLC44A4):c.368A>T:p.Asp123Val	coding	Benign
6	31875082	G	C	G31875082C	SLC44A4	NM_025257.3(SLC44A4):c.243-54C>G	noncoding	Benign
6	31875934	C	T	C31875934T	SLC44A4	NM_025257.3(SLC44A4):c.164-4G>A	noncoding	Benign
6	31876147	C	T	C31876147T	SLC44A4	NM_025257.3(SLC44A4):c.90-18G>A	noncoding	Benign
6	31876149	G	A	G31876149A	SLC44A4	NM_025257.3(SLC44A4):c.90-20C>T	noncoding	Benign
6	31876221	G	A	G31876221A	SLC44A4	NM_025257.3(SLC44A4):c.90-92C>T	noncoding	Benign
6	31876907	A	G	A31876907G	SLC44A4	NM_025257.3(SLC44A4):c.89+127T>C	noncoding	Benign
6	31877221	G	A	G31877221A	SLC44A4	NM_025257.3(SLC44A4):c.41-139C>T	noncoding	Benign
6	31878964	C	A	C31878964A	SLC44A4	NM_025257.3(SLC44A4):c.17G>T:p.Arg6Leu	coding	Benign
6	31879123	G	A	G31879123A	SLC44A4	Single_allele	noncoding	Benign
6	31879235	C	A	C31879235A	SLC44A4	Single_allele	noncoding	Benign
6	31888435	C	T	C31888435T	EHMT2	NM_006709.5(EHMT2):c.1437G>A:p.Val479=	coding	Benign
6	31896527	G	A	G31896527A	EHMT2	NM_006709.5(EHMT2):c.329-11C>T	noncoding	Benign
6	31927814	G	A	G31927814A	C2	NM_000063.6(C2):c.46+16G>A	noncoding	Benign
6	31928784	G	T	G31928784T	C2	NM_000063.6(C2):c.309G>T:p.Arg103=	coding	Benign
6	31933594	C	T	C31933594T	C2	NM_000063.6(C2):c.443-16C>T	noncoding	Benign
6	31933876	C	T	C31933876T	C2	NM_000063.6(C2):c.626C>T:p.Ser209Phe	coding	Pathogenic
6	31943254	G	A	G31943254A	C2	NM_000063.6(C2):c.1390G>A:p.Gly464Arg	coding	Pathogenic
6	31947731	G	T	G31947731T	CFB	NM_001710.6(CFB):c.659-11G>T	noncoding	Benign
6	31948021	C	G	C31948021G	CFB	NM_001710.6(CFB):c.837C>G:p.Asp279Glu	coding	Benign
6	31948042	C	T	C31948042T	C2;CFB	NM_001710.6(CFB):c.858C>T:p.Phe286=	coding	Benign/Likely_benign
6	31948285	A	G	A31948285G	CFB	NM_001710.6(CFB):c.898-89A>G	noncoding	Benign
6	31948454	A	C	A31948454C	CFB	NM_001710.6(CFB):c.978A>C:p.Glu326Asp	coding	Benign/Likely_benign
6	31948623	A	G	A31948623G	CFB	NM_001710.6(CFB):c.1036+111A>G	noncoding	Benign
6	31949139	A	G	A31949139G	CFB	NM_001710.6(CFB):c.1169-104A>G	noncoding	Benign
6	31949174	T	C	T31949174C	CFB	NM_001710.6(CFB):c.1169-69T>C	noncoding	Benign
6	31949564	A	C	A31949564C	CFB	NM_001710.6(CFB):c.1408+7A>C	noncoding	Benign
6	31949763	T	C	T31949763C	CFB	NM_001710.6(CFB):c.1408+206T>C	noncoding	Benign
6	31950032	A	G	A31950032G	CFB	NM_001710.6(CFB):c.1409-18A>G	noncoding	Benign
6	31950123	A	G	A31950123G	CFB	NM_001710.6(CFB):c.1482A>G:p.Pro494=	coding	Benign
6	31951083	A	G	A31951083G	CFB	NM_001710.6(CFB):c.1856-61A>G	noncoding	Benign
6	31951126	C	T	C31951126T	CFB	NM_001710.6(CFB):c.1856-18C>T	noncoding	Benign
6	31951542	C	G	C31951542G	CFB	NM_001710.6(CFB):c.2090-13C>G	noncoding	Benign
6	31951801	A	G	A31951801G	CFB	NM_001710.6(CFB):c.2140-74A>G	noncoding	Benign
6	31952140	T	C	T31952140C	CFB	NM_002904.6(NELFE):c.*161A>G	noncoding	Benign
6	31952179	T	C	T31952179C	CFB	NM_002904.6(NELFE):c.*122A>G	noncoding	Benign
6	31959565	A	G	A31959565G	SKIV2L	NM_006929.5(SKIV2L):c.126+165A>G	noncoding	Benign
6	31960054	A	G	A31960054G	SKIC2	NM_006929.5(SKIC2):c.171A>G:p.Glu57=	coding	Benign
6	31960062	A	G	A31960062G	SKIC2	NM_006929.5(SKIC2):c.179A>G:p.Gln60Arg	coding	Benign/Likely_benign
6	31960118	C	T	C31960118T	SKIV2L	NM_006929.5(SKIV2L):c.235C>T:p.Arg79Ter	coding	Pathogenic
6	31960504	C	T	C31960504T	SKIV2L	NM_006929.5(SKIV2L):c.427C>T:p.Gln143Ter	coding	Pathogenic
6	31960914	G	A	G31960914A	SKIV2L	NM_006929.5(SKIV2L):c.545-127G>A	noncoding	Benign
6	31961022	T	C	T31961022C	SKIC2	NM_006929.5(SKIC2):c.545-19T>C	noncoding	Benign
6	31961035	C	G	C31961035G	SKIC2	NM_006929.5(SKIC2):c.545-6C>G	noncoding	Benign
6	31961081	C	T	C31961081T	SKIC2	NM_006929.5(SKIC2):c.585C>T:p.Asp195=	coding	Benign/Likely_benign
6	31962547	G	A	G31962547A	SKIC2	NM_006929.5(SKIC2):c.1173G>A:p.Pro391=	coding	Benign/Likely_benign
6	31962664	G	T	G31962664T	SKIV2L	NM_006929.5(SKIV2L):c.1212-50G>T	noncoding	Benign
6	31963731	C	T	C31963731T	SKIV2L	NM_006929.5(SKIV2L):c.1645C>T:p.Gln549Ter	coding	Pathogenic
6	31963970	G	A	G31963970A	SKIC2	NM_006929.5(SKIC2):c.1705G>A:p.Val569Met	coding	Benign/Likely_benign
6	31964128	G	A	G31964128A	SKIC2	NM_006929.5(SKIC2):c.1860+3G>A	noncoding	Benign
6	31964262	G	A	G31964262A	SKIC2	NM_006929.5(SKIC2):c.1891G>A:p.Gly631Ser	coding	Pathogenic
6	31965741	T	C	T31965741C	SKIV2L	NM_006929.5(SKIV2L):c.1972-42T>C	noncoding	Benign
6	31966200	A	C	A31966200C	SKIV2L	NM_006929.5(SKIV2L):c.2202+187A>C	noncoding	Benign
6	31966697	A	G	A31966697G	SKIC2	NM_006929.5(SKIC2):c.2203-12A>G	noncoding	Benign/Likely_benign
6	31966988	C	T	C31966988T	SKIC2	NM_006929.5(SKIC2):c.2341-16C>T	noncoding	Benign
6	31967003	G	T	G31967003T	SKIV2L	NM_006929.5(SKIV2L):c.2341-1G>T	noncoding	Pathogenic
6	31967157	T	A	T31967157A	SKIC2	NM_006929.5(SKIC2):c.2478+16T>A	noncoding	Benign
6	31967976	G	A	G31967976A	SKIC2	NM_006929.5(SKIC2):c.2752G>A:p.Val918Ile	coding	Benign
6	31968349	C	T	C31968349T	SKIC2	NM_006929.5(SKIC2):c.2880C>T:p.Ala960=	coding	Benign
6	31968700	G	A	G31968700A	SKIC2	NM_006929.5(SKIC2):c.3084G>A:p.Arg1028=	coding	Benign
6	31968775	T	C	T31968775C	SKIC2	NM_006929.5(SKIC2):c.3159T>C:p.Pro1053=	coding	Benign/Likely_benign
6	31968853	C	T	C31968853T	SKIC2	NM_006929.5(SKIC2):c.3181-18C>T	noncoding	Benign
6	31968877	C	T	C31968877T	SKIC2	NM_006929.5(SKIC2):c.3187C>T:p.Arg1063Ter	coding	Pathogenic
6	31969018	G	C	G31969018C	SKIC2	NM_006929.5(SKIC2):c.3328G>C:p.Ala1110Pro	coding	Benign
6	31969260	C	T	C31969260T	SKIC2	NM_006929.5(SKIC2):c.3400-20C>T	noncoding	Benign
6	31984403	C	A	C31984403A	C4A	NM_007293.3(C4A):c.1040C>A:p.Ser347Tyr	coding	Benign
6	31997008	T	G	T31997008G	C4A	NM_007293.3(C4A):c.3856T>G:p.Ser1286Ala	coding	Benign
6	32017141	C	A	C32017141A	C4B	NM_001002029.4(C4B):c.1040C>A:p.Ser347Tyr	coding	Benign
6	32027362	A	G	A32027362G	C4B	NM_001002029.4(C4B):c.2719A>G:p.Thr907Ala	coding	Benign/Likely_benign
6	32038423	A	G	A32038423G	CYP21A2	NM_000500.9(CYP21A2):c.1A>G:p.Met1Val	coding	Pathogenic
6	32038538	A	T	A32038538T	CYP21A2	NM_000500.9(CYP21A2):c.116A>T:p.His39Leu	coding	Pathogenic
6	32038546	C	T	C32038546T	CYP21A2	NM_000500.9(CYP21A2):c.124C>T:p.Gln42Ter	coding	Pathogenic
6	32039178	C	G	C32039178G	CYP21A2	NM_000500.9(CYP21A2):c.377C>G:p.Ser126Ter	coding	Pathogenic
6	32039423	T	A	T32039423A	CYP21A2	NM_000500.9(CYP21A2):c.515T>A:p.Ile172Asn	coding	Pathogenic
6	32039649	T	G	T32039649G	CYP21A2	NM_000500.9(CYP21A2):c.651+2T>G	noncoding	Pathogenic
6	32039807	T	A	T32039807A	CYP21A2	NM_000500.9(CYP21A2):c.710T>A:p.Ile237Asn	coding	Pathogenic/Likely_pathogenic
6	32040206	G	C	G32040206C	CYP21A2	NM_000500.9(CYP21A2):c.939+1G>C	coding	Pathogenic
6	32040415	C	T	C32040415T	CYP21A2	NM_000500.9(CYP21A2):c.949C>T:p.Arg317Ter	coding	Pathogenic
6	32040418	C	T	C32040418T	CYP21A2	NM_000500.9(CYP21A2):c.952C>T:p.Leu318=	coding	Pathogenic
6	32040490	C	T	C32040490T	CYP21A2	NM_000500.9(CYP21A2):c.1024C>T:p.Arg342Trp	coding	Pathogenic
6	32040532	C	T	C32040532T	CYP21A2	NM_000500.9(CYP21A2):c.1066C>T:p.Leu356=	coding	Pathogenic
6	32040562	C	T	C32040562T	CYP21A2	NM_000500.9(CYP21A2):c.1096C>T:p.His366Tyr	coding	Pathogenic
6	32040584	G	A	G32040584A	CYP21A2	NM_000500.9(CYP21A2):c.1118G>A:p.Ser373Asn	coding	Pathogenic/Likely_pathogenic
6	32040586	T	C	T32040586C	CYP21A2	NM_000500.9(CYP21A2):c.1118+2T>C	noncoding	Pathogenic
6	32040692	G	C	G32040692C	CYP21A2	NM_000500.9(CYP21A2):c.1143G>C:p.Glu381Asp	coding	Pathogenic
6	32041003	C	T	C32041003T	CYP21A2	NM_000500.9(CYP21A2):c.1357C>T:p.Leu453=	coding	Pathogenic
6	32041096	C	T	C32041096T	CYP21A2	NM_000500.9(CYP21A2):c.1450C>T:p.Arg484Trp	coding	Pathogenic
6	32041186	C	T	C32041186T	TNXB	NM_001365276.2(TNXB):c.*163G>A	noncoding	Benign
6	32041502	T	C	T32041502C	TNXB	NM_001365276.2(TNXB):c.12634-52A>G	coding	Benign
6	32041507	G	A	G32041507A	TNXB	NM_001365276.2(TNXB):c.12634-57C>T	coding	Benign
6	32041524	A	G	A32041524G	TNXB	NM_000500.9(CYP21A2):c.*390A>G	coding	Benign
6	32041679	A	G	A32041679G	TNXB	NM_001365276.2(TNXB):c.12633+92T>C	noncoding	Benign
6	32042239	G	C	G32042239C	TNXB	NM_001365276.2(TNXB):c.12307+27C>G	noncoding	Benign
6	32042795	G	T	G32042795T	TNXB	NM_001365276.2(TNXB):c.11962C>A:p.Leu3988Ile	coding	Benign
6	32043539	G	T	G32043539T	TNXB	NM_001365276.2(TNXB):c.11548C>A:p.Gln3850Lys	coding	Benign
6	32043540	T	C	T32043540C	TNXB	NM_001365276.2(TNXB):c.11547A>G:p.Thr3849=	coding	Benign/Likely_benign
6	32043591	C	T	C32043591T	TNXB	NM_001365276.2(TNXB):c.11531-35G>A	noncoding	Benign
6	32043592	G	T	G32043592T	TNXB	NM_001365276.2(TNXB):c.11531-36C>A	noncoding	Benign/Likely_benign
6	32043862	T	C	T32043862C	TNXB	NM_001365276.2(TNXB):c.11417A>G:p.Gln3806Arg	coding	Benign/Likely_benign
6	32043867	A	G	A32043867G	TNXB	NM_001365276.2(TNXB):c.11412T>C:p.Asp3804=	coding	Benign/Likely_benign
6	32044177	T	C	T32044177C	TNXB	NM_001365276.2(TNXB):c.11264-48A>G	noncoding	Benign/Likely_benign
6	32044342	A	G	A32044342G	TNXB	NM_001365276.2(TNXB):c.11263+39T>C	noncoding	Benign
6	32044582	G	C	G32044582C	TNXB	NM_001365276.2(TNXB):c.11062C>G:p.Arg3688Gly	coding	Benign
6	32044684	A	C	A32044684C	TNXB	NM_001365276.2(TNXB):c.10960T>G:p.Ser3654Ala	coding	Benign
6	32044810	C	T	C32044810T	TNXB	NM_001365276.2(TNXB):c.10928-94G>A	noncoding	Benign
6	32044978	G	A	G32044978A	TNXB	NM_001365276.2(TNXB):c.10927+28C>T	noncoding	Benign
6	32045260	C	T	C32045260T	TNXB	NM_001365276.2(TNXB):c.10673G>A:p.Arg3558His	coding	Benign/Likely_benign
6	32046227	G	A	G32046227A	TNXB	NM_001365276.2(TNXB):c.10554C>T:p.Tyr3518=	coding	Benign
6	32046679	C	T	C32046679T	TNXB	NM_001365276.2(TNXB):c.10325-223G>A	noncoding	Benign
6	32047998	G	A	G32047998A	TNXB	NM_001365276.2(TNXB):c.10060C>T:p.Pro3354Ser	coding	Benign
6	32048019	A	G	A32048019G	TNXB	NM_001365276.2(TNXB):c.10046-7T>C	noncoding	Benign
6	32048390	C	T	C32048390T	TNXB	NM_001365276.2(TNXB):c.10018G>A:p.Gly3340Ser	coding	Benign/Likely_benign
6	32048559	C	T	C32048559T	TNXB	NM_001365276.2(TNXB):c.9849G>A:p.Thr3283=	coding	Benign/Likely_benign
6	32048646	G	A	G32048646A	TNXB	NM_001365276.2(TNXB):c.9762C>T:p.Pro3254=	coding	Benign/Likely_benign
6	32048891	G	C	G32048891C	TNXB	NM_001365276.2(TNXB):c.9758-241C>G	noncoding	Benign
6	32049364	C	T	C32049364T	TNXB	NM_001365276.2(TNXB):c.9663G>A:p.Val3221=	coding	Benign/Likely_benign
6	32049384	C	T	C32049384T	TNXB	NM_001365276.2(TNXB):c.9643G>A:p.Glu3215Lys	coding	Benign
6	32049415	G	A	G32049415A	TNXB	NM_001365276.2(TNXB):c.9612C>T:p.Asp3204=	coding	Benign/Likely_benign
6	32049456	C	T	C32049456T	TNXB	NM_001365276.2(TNXB):c.9571G>A:p.Gly3191Ser	coding	Benign
6	32049744	C	T	C32049744T	TNXB	NM_001365276.2(TNXB):c.9440-157G>A	noncoding	Benign
6	32049999	C	T	C32049999T	TNXB	NM_001365276.2(TNXB):c.9438G>A:p.Thr3146=	coding	Benign/Likely_benign
6	32052461	A	G	A32052461G	TNXB	NM_001365276.2(TNXB):c.9115+209T>C	noncoding	Benign
6	32052713	G	A	G32052713A	TNXB	NM_001365276.2(TNXB):c.9072C>T:p.His3024=	coding	Benign/Likely_benign
6	32052745	A	G	A32052745G	TNXB	NM_001365276.2(TNXB):c.9040T>C:p.Cys3014Arg	coding	Benign/Likely_benign
6	32053067	G	A	G32053067A	TNXB	NM_001365276.2(TNXB):c.8792-74C>T	noncoding	Benign
6	32053353	C	T	C32053353T	TNXB	NM_001365276.2(TNXB):c.8791+35G>A	noncoding	Benign/Likely_benign
6	32053499	C	T	C32053499T	TNXB	NM_001365276.2(TNXB):c.8680G>A:p.Glu2894Lys	coding	Benign/Likely_benign
6	32053581	G	A	G32053581A	TNXB	NM_001365276.2(TNXB):c.8598C>T:p.Val2866=	coding	Benign
6	32053585	A	G	A32053585G	TNXB	NM_001365276.2(TNXB):c.8594T>C:p.Met2865Thr	coding	Benign/Likely_benign
6	32053885	C	T	C32053885T	TNXB	NM_001365276.2(TNXB):c.8468-174G>A	noncoding	Benign
6	32055648	C	T	C32055648T	TNXB	NM_001365276.2(TNXB):c.8467+203G>A	noncoding	Benign
6	32056786	C	T	C32056786T	TNXB	NM_001365276.2(TNXB):c.7943G>A:p.Trp2648Ter	coding	Pathogenic
6	32056863	G	A	G32056863A	TNXB	NM_001365276.2(TNXB):c.7866C>T:p.Thr2622=	coding	Benign/Likely_benign
6	32056904	C	G	C32056904G	TNXB	NM_001365276.2(TNXB):c.7826-1G>C	coding	Pathogenic
6	32057055	T	C	T32057055C	TNXB	NM_001365276.2(TNXB):c.7826-152A>G	noncoding	Benign
6	32057778	C	A	C32057778A	TNXB	NM_001365276.2(TNXB):c.7825+280G>T	noncoding	Benign
6	32058163	T	C	T32058163C	TNXB	NM_001365276.2(TNXB):c.7720A>G:p.Lys2574Glu	coding	Benign/Likely_benign
6	32058172	G	C	G32058172C	TNXB	NM_001365276.2(TNXB):c.7711C>G:p.Gln2571Glu	coding	Benign/Likely_benign
6	32058179	A	G	A32058179G	TNXB	NM_001365276.2(TNXB):c.7704T>C:p.Val2568=	coding	Benign/Likely_benign
6	32058203	G	A	G32058203A	TNXB	NM_001365276.2(TNXB):c.7680C>T:p.Asp2560=	coding	Benign/Likely_benign
6	32058236	A	G	A32058236G	TNXB	NM_001365276.2(TNXB):c.7647T>C:p.Phe2549=	coding	Benign/Likely_benign
6	32058480	T	C	T32058480C	TNXB	NM_001365276.2(TNXB):c.7493-90A>G	noncoding	Benign
6	32061472	G	A	G32061472A	TNXB	NM_001365276.2(TNXB):c.7417C>T:p.Arg2473Cys	coding	Benign
6	32061476	A	G	A32061476G	TNXB	NM_001365276.2(TNXB):c.7413T>C:p.Pro2471=	coding	Benign/Likely_benign
6	32061537	C	T	C32061537T	TNXB	NM_001365276.2(TNXB):c.7352G>A:p.Arg2451Gln	coding	Benign/Likely_benign
6	32062072	G	A	G32062072A	TNXB	NM_001365276.2(TNXB):c.7168+85C>T	noncoding	Benign
6	32062274	C	T	C32062274T	TNXB	NM_001365276.2(TNXB):c.7051G>A:p.Gly2351Arg	coding	Benign/Likely_benign
6	32062354	G	T	G32062354T	TNXB	NM_001365276.2(TNXB):c.6971C>A:p.Thr2324Lys	coding	Benign
6	32062423	G	T	G32062423T	TNXB	NM_001365276.2(TNXB):c.6902C>A:p.Pro2301His	coding	Benign
6	32064529	C	T	C32064529T	TNXB	NM_001365276.2(TNXB):c.6841+292G>A	noncoding	Benign
6	32064644	C	T	C32064644T	TNXB	NM_001365276.2(TNXB):c.6841+177G>A	noncoding	Benign
6	32064979	A	T	A32064979T	TNXB	NM_001365276.2(TNXB):c.6683T>A:p.Phe2228Tyr	coding	Benign
6	32065054	C	T	C32065054T	TNXB	NM_001365276.2(TNXB):c.6608G>A:p.Arg2203Lys	coding	Benign/Likely_benign
6	32065230	G	A	G32065230A	TNXB	NM_001365276.2(TNXB):c.6545-113C>T	noncoding	Benign
6	32067692	G	A	G32067692A	TNXB	NM_001365276.2(TNXB):c.6513C>T:p.Arg2171=	coding	Benign
6	32067857	G	A	G32067857A	TNXB	NM_001365276.2(TNXB):c.6348C>T:p.Thr2116=	coding	Benign
6	32067929	G	A	G32067929A	TNXB	NM_001365276.2(TNXB):c.6276C>T:p.Pro2092=	coding	Benign/Likely_benign
6	32068586	T	C	T32068586C	TNXB	NM_001365276.2(TNXB):c.6024A>G:p.Thr2008=	coding	Benign/Likely_benign
6	32068673	G	A	G32068673A	TNXB	NM_001365276.2(TNXB):c.5937C>T:p.Thr1979=	coding	Benign
6	32068901	G	A	G32068901A	TNXB	NM_001365276.2(TNXB):c.5823C>T:p.Ser1941=	coding	Benign
6	32068978	T	C	T32068978C	TNXB	NM_001365276.2(TNXB):c.5746A>G:p.Thr1916Ala	coding	Benign/Likely_benign
6	32069698	G	C	G32069698C	TNXB	NM_001365276.2(TNXB):c.5442C>G:p.Asp1814Glu	coding	Benign/Likely_benign
6	32072095	C	T	C32072095T	TNXB	NM_001365276.2(TNXB):c.4885G>A:p.Glu1629Lys	coding	Benign
6	32073766	G	A	G32073766A	TNXB	NM_001365276.2(TNXB):c.4562C>T:p.Ala1521Val	coding	Benign/Likely_benign
6	32073844	G	A	G32073844A	TNXB	NM_001365276.2(TNXB):c.4484C>T:p.Thr1495Ile	coding	Benign
6	32079076	G	A	G32079076A	TNXB	NM_001365276.2(TNXB):c.4332C>T:p.His1444=	coding	Benign
6	32079659	C	G	C32079659G	TNXB	NM_001365276.2(TNXB):c.4043-294G>C	noncoding	Benign
6	32082118	G	T	G32082118T	TNXB	NM_001365276.2(TNXB):c.3654C>A:p.Asp1218Glu	coding	Benign
6	32084405	T	C	T32084405C	TNXB	NM_001365276.2(TNXB):c.3445+8A>G	noncoding	Benign/Likely_benign
6	32088974	G	A	G32088974A	TNXB	NM_001365276.2(TNXB):c.2590C>T:p.Gln864Ter	coding	Pathogenic
6	32094910	G	A	G32094910A	TNXB	NM_001365276.2(TNXB):c.2358+166C>T	noncoding	Benign
6	32096016	T	C	T32096016C	TNXB	NM_001365276.2(TNXB):c.1837A>G:p.Ser613Gly	coding	Benign/Likely_benign
6	32098086	C	T	C32098086T	TNXB	NM_001365276.2(TNXB):c.113G>A:p.Arg38Gln	coding	Benign/Likely_benign
6	32098113	C	T	C32098113T	TNXB	NM_001365276.2(TNXB):c.86G>A:p.Arg29Gln	coding	Benign/Likely_benign
6	32098400	T	C	T32098400C	TNXB	NM_001365276.2(TNXB):c.-8-194A>G	noncoding	Benign
6	32109603	C	T	C32109603T	TNXB	Single_allele	noncoding	Benign
6	32194075	G	A	G32194075A	GPSM3	NM_022107.3(GPSM3):c.-102+235C>T	noncoding	Benign
6	32195497	G	A	G32195497A	NOTCH4	NM_004557.4(NOTCH4):c.5952C>T:p.Asp1984_Cys1985=	coding	Benign
6	32195764	A	C	A32195764C	NOTCH4	NM_004557.4(NOTCH4):c.5685T>G:p.Ser1895=	coding	Benign
6	32195887	C	T	C32195887T	NOTCH4	NM_004557.4(NOTCH4):c.5562G>A:p.Gly1854=	coding	Benign
6	32196022	T	C	T32196022C	NOTCH4	NM_004557.4(NOTCH4):c.5427A>G:p.Gln1809=	coding	Benign
6	32197092	G	C	G32197092C	NOTCH4	NM_004557.4(NOTCH4):c.5053-20C>G	noncoding	Benign
6	32197097	C	A	C32197097A	NOTCH4	NM_004557.4(NOTCH4):c.5053-25G>T	noncoding	Benign
6	32197667	A	G	A32197667G	NOTCH4	NM_004557.4(NOTCH4):c.4757-73T>C	noncoding	Benign
6	32197806	G	A	G32197806A	NOTCH4	NM_004557.4(NOTCH4):c.4757-212C>T	noncoding	Benign
6	32198603	C	G	C32198603G	NOTCH4	NM_004557.4(NOTCH4):c.4618-44G>C	noncoding	Benign
6	32198607	C	G	C32198607G	NOTCH4	NM_004557.4(NOTCH4):c.4617+42G>C	noncoding	Benign
6	32199232	G	T	G32199232T	NOTCH4	NM_004557.4(NOTCH4):c.4316-87C>A	noncoding	Benign
6	32200994	G	T	G32200994T	NOTCH4	NM_004557.4(NOTCH4):c.4152C>A:p.Val1384=	coding	Benign
6	32202630	C	G	C32202630G	NOTCH4	NM_004557.4(NOTCH4):c.3232-31G>C	noncoding	Benign
6	32202656	C	T	C32202656T	NOTCH4	NM_004557.4(NOTCH4):c.3232-57G>A	noncoding	Benign
6	32203591	T	C	T32203591C	NOTCH4	NM_004557.4(NOTCH4):c.3231+179A>G	noncoding	Benign
6	32203906	T	C	T32203906C	NOTCH4	NM_004557.4(NOTCH4):c.3119-24A>G	noncoding	Benign
6	32204288	T	G	T32204288G	NOTCH4	NM_004557.4(NOTCH4):c.2967A>C:p.Gly989=	coding	Benign
6	32210793	C	T	C32210793T	NOTCH4	NM_004557.4(NOTCH4):c.2824G>A:p.Gly942Arg	coding	Benign
6	32212369	A	G	A32212369G	NOTCH4	NM_004557.4(NOTCH4):c.2680+105T>C	noncoding	Benign
6	32212464	C	T	C32212464T	NOTCH4	NM_004557.4(NOTCH4):c.2680+10G>A	noncoding	Benign
6	32212654	A	T	A32212654T	NOTCH4	NM_004557.4(NOTCH4):c.2527-27T>A	noncoding	Benign
6	32213405	G	A	G32213405A	NOTCH4	NM_004557.4(NOTCH4):c.2321-153C>T	noncoding	Benign
6	32214484	T	C	T32214484C	NOTCH4	NM_004557.4(NOTCH4):c.2022-229A>G	noncoding	Benign
6	32215098	T	C	T32215098C	NOTCH4	NM_004557.4(NOTCH4):c.2021+128A>G	noncoding	Benign
6	32215398	G	A	G32215398A	NOTCH4	NM_004557.4(NOTCH4):c.1862-13C>T	noncoding	Benign
6	32216797	G	A	G32216797A	NOTCH4	NM_004557.4(NOTCH4):c.1861+148C>T	noncoding	Benign
6	32216928	G	A	G32216928A	NOTCH4	NM_004557.4(NOTCH4):c.1861+17C>T	noncoding	Benign
6	32217469	T	G	T32217469G	NOTCH4	NM_004557.4(NOTCH4):c.1625-203A>C	noncoding	Benign
6	32217828	G	A	G32217828A	NOTCH4	NM_004557.4(NOTCH4):c.1624+167C>T	noncoding	Benign
6	32218019	C	T	C32218019T	NOTCH4	NM_004557.4(NOTCH4):c.1600G>A:p.Gly534Ser	coding	Benign
6	32218273	G	A	G32218273A	NOTCH4	NM_004557.4(NOTCH4):c.1511-165C>T	noncoding	Benign
6	32219425	T	C	T32219425C	NOTCH4	NM_004557.4(NOTCH4):c.1510+167A>G	noncoding	Benign
6	32219828	A	G	A32219828G	NOTCH4	NM_004557.4(NOTCH4):c.1316-42T>C	noncoding	Benign
6	32219860	G	T	G32219860T	NOTCH4	NM_004557.4(NOTCH4):c.1316-74C>A	noncoding	Benign
6	32219944	A	T	A32219944T	NOTCH4	NM_004557.4(NOTCH4):c.1316-158T>A	noncoding	Benign
6	32219945	C	T	C32219945T	NOTCH4	NM_004557.4(NOTCH4):c.1316-159G>A	noncoding	Benign
6	32220322	C	T	C32220322T	NOTCH4	NM_004557.4(NOTCH4):c.1160-38G>A	noncoding	Benign
6	32220520	G	C	G32220520C	NOTCH4	NM_004557.4(NOTCH4):c.1044C>G:p.Gly348=	coding	Benign
6	32220606	T	C	T32220606C	NOTCH4	NM_004557.4(NOTCH4):c.958A>G:p.Thr320Ala	coding	Benign
6	32220826	C	T	C32220826T	NOTCH4	NM_004557.4(NOTCH4):c.852G>A:p.Gln284=	coding	Benign
6	32220863	T	C	T32220863C	NOTCH4	NM_004557.4(NOTCH4):c.815A>G:p.Asp272Gly	coding	Benign
6	32220865	T	C	T32220865C	NOTCH4	NM_004557.4(NOTCH4):c.813A>G:p.Pro271=	coding	Benign
6	32221046	G	A	G32221046A	NOTCH4	NM_004557.4(NOTCH4):c.731C>T:p.Ser244Leu	coding	Benign
6	32221255	T	C	T32221255C	NOTCH4	NM_004557.4(NOTCH4):c.522A>G:p.Thr174=	coding	Benign
6	32222440	T	C	T32222440C	NOTCH4	NM_004557.4(NOTCH4):c.451+71A>G	noncoding	Benign
6	32222613	T	G	T32222613G	NOTCH4	NM_004557.4(NOTCH4):c.349A>C:p.Lys117Gln	coding	Benign
6	32222629	A	G	A32222629G	NOTCH4	NM_004557.4(NOTCH4):c.333T>C:p.Gly111=	coding	Benign
6	32222707	G	A	G32222707A	NOTCH4	NM_004557.4(NOTCH4):c.255C>T:p.Pro85=	coding	Benign
6	32222843	T	C	T32222843C	NOTCH4	NM_004557.4(NOTCH4):c.156-37A>G	noncoding	Benign
6	32223094	T	A	T32223094A	NOTCH4	NM_004557.4(NOTCH4):c.74-8A>T	noncoding	Benign
6	32223264	G	A	G32223264A	NOTCH4	NM_004557.4(NOTCH4):c.74-178C>T	noncoding	Benign
6	32223680	G	A	G32223680A	NOTCH4	NM_004557.4(NOTCH4):c.73+176C>T	noncoding	Benign
6	32223767	C	T	C32223767T	NOTCH4	NM_004557.4(NOTCH4):c.73+89G>A	noncoding	Benign
6	32223804	T	A	T32223804A	NOTCH4	NM_004557.4(NOTCH4):c.73+52A>T	noncoding	Benign
6	32223830	C	T	C32223830T	NOTCH4	NM_004557.4(NOTCH4):c.73+26G>A	noncoding	Benign
6	32223843	C	T	C32223843T	NOTCH4	NM_004557.4(NOTCH4):c.73+13G>A	noncoding	Benign
6	32224045	G	A	G32224045A	NOTCH4	NM_004557.4(NOTCH4):c.-117C>T	noncoding	Benign
6	32522079	C	T	C32522079T	HLA-DRB5	NM_002125.4(HLA-DRB5):c.196G>A:p.Asp66Asn	coding	Benign
6	32584282	G	A	G32584282A	HLA-DRB1	NM_002124.4(HLA-DRB1):c.197C>T:p.Ser66Phe	coding	Benign
6	32584282	G	T	G32584282T	HLA-DRB1	NM_002124.4(HLA-DRB1):c.197C>A:p.Ser66Tyr	coding	Benign
6	32641328	G	A	G32641328A	HLA-DQA1	NM_002122.5(HLA-DQA1):c.101G>A:p.Cys34Tyr	coding	Benign
6	32641349	T	C	T32641349C	HLA-DQA1	NM_002122.5(HLA-DQA1):c.122T>C:p.Phe41Ser	coding	Benign
6	32828188	G	A	G32828188A	TAP2	NM_001290043.2(TAP2):c.*718C>T	coding	Benign
6	32829016	G	A	G32829016A	TAP2	NM_001290043.2(TAP2):c.1951C>T:p.Arg651Cys	coding	Benign
6	32829390	C	T	C32829390T	TAP2	NM_001290043.2(TAP2):c.1932+10G>A	noncoding	Benign
6	32829996	T	C	T32829996C	TAP2	NM_001290043.2(TAP2):c.1729A>G:p.Met577Val	coding	Benign
6	32830032	C	T	C32830032T	TAP2	NM_001290043.2(TAP2):c.1693G>A:p.Ala565Thr	coding	Benign
6	32830249	T	C	T32830249C	TAP2	NM_001290043.2(TAP2):c.1635+18A>G	noncoding	Benign
6	32830734	G	A	G32830734A	TAP2	NM_001290043.2(TAP2):c.1345C>T:p.Arg449Ter	coding	Pathogenic
6	32830821	T	C	T32830821C	TAP2	NM_001290043.2(TAP2):c.1273-15A>G	noncoding	Benign
6	32832669	C	T	C32832669T	TAP2	NM_001290043.2(TAP2):c.1101G>A:p.Trp367Ter	coding	Pathogenic
6	32835161	C	T	C32835161T	TAP2	NM_001290043.2(TAP2):c.938G>A:p.Arg313His	coding	Benign
6	32837529	C	T	C32837529T	TAP2	NM_001290043.2(TAP2):c.608+8G>A	noncoding	Benign
6	32837530	C	T	C32837530T	TAP2	NM_001290043.2(TAP2):c.608+7G>A	noncoding	Benign
6	32837662	C	A	C32837662A	TAP2	NM_001290043.2(TAP2):c.494-11G>T	noncoding	Benign
6	32837693	C	G	C32837693G	TAP2	NM_001290043.2(TAP2):c.494-42G>C	noncoding	Benign
6	32841299	G	A	G32841299A	PSMB8	NM_148919.4(PSMB8):c.742+232C>T	noncoding	Benign
6	32841446	C	A	C32841446A	PSMB8	NM_148919.4(PSMB8):c.742+85G>T	noncoding	Benign
6	32841805	G	T	G32841805T	PSMB8	NM_148919.4(PSMB8):c.538-70C>A	noncoding	Benign
6	32842071	G	A	G32842071A	PSMB8	NM_148919.4(PSMB8):c.537+63C>T	noncoding	Benign
6	32842190	G	A	G32842190A	PSMB8	NM_148919.4(PSMB8):c.481C>T:p.Gln161Ter	coding	Pathogenic/Likely_pathogenic
6	32843107	G	A	G32843107A	PSMB8	NM_148919.4(PSMB8):c.148-18C>T	noncoding	Benign
6	32843606	A	G	A32843606G	PSMB8	NM_148919.4(PSMB8):c.147+244T>C	noncoding	Benign
6	32843753	A	C	A32843753C	PSMB8	NM_148919.4(PSMB8):c.147+97T>G	noncoding	Benign
6	32844751	C	T	C32844751T	PSMB8	NR_037173.1(PSMB8-AS1):n.296C>T	noncoding	Benign
6	32845024	G	A	G32845024A	PSMB8	Single_allele	noncoding	Benign
6	32845081	A	G	A32845081G	PSMB8	Single_allele	noncoding	Benign
6	32845139	T	C	T32845139C	PSMB8	Single_allele	noncoding	Benign
6	32845799	T	G	T32845799G	TAP1	NM_000593.6(TAP1):c.2041-14A>C	coding	Benign
6	32845800	C	T	C32845800T	TAP1	NM_000593.6(TAP1):c.2041-15G>A	coding	Benign
6	32852503	C	T	C32852503T	TAP1	NM_000593.6(TAP1):c.599-1G>A	coding	Pathogenic
6	32853022	C	A	C32853022A	TAP1	NM_000593.6(TAP1):c.598+17G>T	noncoding	Benign
6	32854082	C	A	C32854082A	TAP1	NC_000006.11:g.32821859C>A	noncoding	Benign
6	32857313	G	A	G32857313A	PSMB9	NM_002800.5(PSMB9):c.179G>A:p.Arg60His	coding	Benign
6	32858440	G	A	G32858440A	PSMB9	NM_002800.5(PSMB9):c.467G>A:p.Gly156Asp	coding	Pathogenic
6	32858490	C	T	C32858490T	PSMB9	NM_002800.5(PSMB9):c.517C>T:p.Arg173Cys	coding	Benign
6	33162653	G	A	G33162653A	COL11A2	Single_allele	noncoding	Benign
6	33163729	G	C	G33163729C	COL11A2	NM_080680.3(COL11A2):c.5160C>G:p.Ala1720=	coding	Benign/Likely_benign
6	33164116	C	T	C33164116T	COL11A2	NM_080680.3(COL11A2):c.5070+151G>A	noncoding	Benign
6	33164387	G	A	G33164387A	COL11A2	NM_080680.3(COL11A2):c.4950C>T:p.Asp1650=	coding	Benign/Likely_benign
6	33164588	T	C	T33164588C	COL11A2	NM_080680.3(COL11A2):c.4864-115A>G	noncoding	Benign
6	33164829	G	A	G33164829A	COL11A2	NM_080680.3(COL11A2):c.4863+23C>T	noncoding	Benign
6	33164855	C	T	C33164855T	COL11A2	NM_080680.3(COL11A2):c.4860G>A:p.Thr1620=	coding	Benign/Likely_benign
6	33164861	G	A	G33164861A	COL11A2	NM_080680.3(COL11A2):c.4854C>T:p.Asp1618=	coding	Benign/Likely_benign
6	33165154	C	T	C33165154T	COL11A2	NM_080680.3(COL11A2):c.4751-190G>A	noncoding	Benign
6	33165780	G	A	G33165780A	COL11A2	NM_080680.3(COL11A2):c.4519C>T:p.Gln1507Ter	coding	Pathogenic
6	33166325	T	C	T33166325C	COL11A2	NM_080680.3(COL11A2):c.4393-119A>G	noncoding	Benign
6	33167023	G	A	G33167023A	COL11A2	NM_080680.3(COL11A2):c.4230+47C>T	noncoding	Benign
6	33167051	G	A	G33167051A	COL11A2	NM_080680.3(COL11A2):c.4230+19C>T	noncoding	Benign
6	33167318	C	A	C33167318A	COL11A2	NM_080680.3(COL11A2):c.4123-1G>T	coding	Pathogenic
6	33167541	A	G	A33167541G	COL11A2	NM_080680.3(COL11A2):c.4015-8T>C	noncoding	Benign/Likely_benign
6	33167839	G	A	G33167839A	COL11A2	NM_080680.3(COL11A2):c.3974C>T:p.Ser1325Leu	coding	Benign/Likely_benign
6	33168299	G	A	G33168299A	COL11A2	NM_080680.3(COL11A2):c.3960+220C>T	noncoding	Benign
6	33168368	G	A	G33168368A	COL11A2	NM_080680.3(COL11A2):c.3960+151C>T	noncoding	Benign
6	33169626	C	T	C33169626T	COL11A2	NM_080680.3(COL11A2):c.3691-136G>A	noncoding	Benign
6	33169793	C	T	C33169793T	COL11A2	NM_080680.3(COL11A2):c.3690+38G>A	noncoding	Benign
6	33169912	C	T	C33169912T	COL11A2	NM_080680.3(COL11A2):c.3637-28G>A	noncoding	Benign
6	33170244	G	A	G33170244A	COL11A2	NM_080680.3(COL11A2):c.3582+82C>T	noncoding	Benign
6	33170589	C	A	C33170589A	COL11A2	NM_080680.3(COL11A2):c.3496G>T:p.Glu1166Ter	coding	Pathogenic
6	33171062	A	T	A33171062T	COL11A2	NM_080680.3(COL11A2):c.3366+52T>A	noncoding	Benign
6	33171730	C	A	C33171730A	COL11A2	NM_080680.3(COL11A2):c.3133G>T:p.Gly1045Ter	coding	Pathogenic
6	33171858	A	C	A33171858C	COL11A2	NM_080680.3(COL11A2):c.3043-38T>G	noncoding	Benign
6	33172236	G	T	G33172236T	COL11A2	NM_080680.3(COL11A2):c.2988+53C>A	noncoding	Benign
6	33173123	G	A	G33173123A	COL11A2	NM_080680.3(COL11A2):c.2737-10C>T	noncoding	Benign
6	33173902	G	A	G33173902A	COL11A2	NM_080680.3(COL11A2):c.2554C>T:p.Arg852Ter	coding	Pathogenic
6	33174385	C	A	C33174385A	COL11A2	NM_080680.3(COL11A2):c.2430+142G>T	noncoding	Benign
6	33174762	G	A	G33174762A	COL11A2	NM_080680.3(COL11A2):c.2377-182C>T	noncoding	Benign
6	33175359	G	A	G33175359A	COL11A2	NM_080680.3(COL11A2):c.2376+215C>T	noncoding	Benign
6	33176089	G	C	G33176089C	COL11A2	NM_080680.3(COL11A2):c.2215-20C>G	noncoding	Benign
6	33176596	G	A	G33176596A	COL11A2	NM_080680.3(COL11A2):c.2116-110C>T	noncoding	Benign
6	33177217	G	A	G33177217A	COL11A2	NM_080680.3(COL11A2):c.1980C>T:p.Pro660=	coding	Benign/Likely_benign
6	33177641	G	A	G33177641A	COL11A2	NM_080680.3(COL11A2):c.1917+21C>T	noncoding	Benign
6	33177720	T	C	T33177720C	COL11A2	NM_080680.3(COL11A2):c.1873-14A>G	noncoding	Benign/Likely_benign
6	33177933	A	G	A33177933G	COL11A2	NM_080680.3(COL11A2):c.1872+199T>C	noncoding	Benign
6	33178276	C	G	C33178276G	COL11A2	NM_080680.3(COL11A2):c.1818+32G>C	noncoding	Benign
6	33178344	G	A	G33178344A	COL11A2	NM_080680.3(COL11A2):c.1782C>T:p.Asp594=	coding	Benign/Likely_benign
6	33178361	G	A	G33178361A	COL11A2	NM_080680.3(COL11A2):c.1774-9C>T	noncoding	Benign/Likely_benign
6	33178874	G	A	G33178874A	COL11A2	NM_080680.3(COL11A2):c.1665+46C>T	noncoding	Benign
6	33178949	G	A	G33178949A	COL11A2	NM_080680.3(COL11A2):c.1636C>T:p.Arg546Ter	coding	Pathogenic
6	33179293	G	A	G33179293A	COL11A2	NM_080680.3(COL11A2):c.1504-9C>T	noncoding	Benign/Likely_benign
6	33179950	G	A	G33179950A	COL11A2	NM_080680.3(COL11A2):c.1360-145C>T	noncoding	Benign
6	33180775	G	A	G33180775A	COL11A2	NM_080680.3(COL11A2):c.1222-45C>T	noncoding	Benign
6	33181155	G	A	G33181155A	COL11A2	NM_080680.3(COL11A2):c.1135C>T:p.Arg379Ter	coding	Pathogenic
6	33181375	C	G	C33181375G	COL11A2	NM_080680.3(COL11A2):c.1120-205G>C	noncoding	Benign
6	33183895	T	A	T33183895A	COL11A2	NM_080680.3(COL11A2):c.1119+250A>T	noncoding	Benign
6	33184011	T	C	T33184011C	COL11A2	NM_080680.3(COL11A2):c.1119+134A>G	noncoding	Benign
6	33184571	G	T	G33184571T	COL11A2	NM_080680.3(COL11A2):c.940-247C>A	noncoding	Benign
6	33184610	A	G	A33184610G	COL11A2	NM_080680.3(COL11A2):c.940-286T>C	noncoding	Benign
6	33184966	G	A	G33184966A	COL11A2	NM_080680.3(COL11A2):c.939+26C>T	noncoding	Benign
6	33185189	A	C	A33185189C	COL11A2	NM_080680.3(COL11A2):c.877-135T>G	noncoding	Benign
6	33186272	G	A	G33186272A	COL11A2	NM_080680.3(COL11A2):c.798+355C>T	noncoding	Benign
6	33186879	G	A	G33186879A	COL11A2	NM_080680.3(COL11A2):c.607-61C>T	noncoding	Benign
6	33189093	G	A	G33189093A	COL11A2	NM_080680.3(COL11A2):c.328C>T:p.Arg110Ter	coding	Pathogenic
6	33195674	G	A	G33195674A	RXRB	NM_021976.5(RXRB):c.1152C>T:p.Phe384=	coding	Benign
6	33201504	G	A	G33201504A	SLC39A7	NM_006979.3(SLC39A7):c.259G>A:p.Asp87Asn	coding	Benign
6	33201615	G	C	G33201615C	SLC39A7	NM_006979.3(SLC39A7):c.370G>C:p.Gly124Arg	coding	Benign
6	33202062	C	A	C33202062A	SLC39A7	NM_006979.3(SLC39A7):c.581-10C>A	noncoding	Benign
6	33202118	C	G	C33202118G	SLC39A7	NM_006979.3(SLC39A7):c.627C>G:p.Ser209=	coding	Benign
6	33202278	T	C	T33202278C	SLC39A7	NM_006979.3(SLC39A7):c.650T>C:p.Leu217Pro	coding	Pathogenic
6	33202417	T	C	T33202417C	SLC39A7	NM_006979.3(SLC39A7):c.789T>C:p.His263=	coding	Benign
6	33202607	A	C	A33202607C	SLC39A7	NM_006979.3(SLC39A7):c.847A>C:p.Thr283Pro	coding	Benign
6	33203026	A	G	A33203026G	SLC39A7	NM_006979.3(SLC39A7):c.1057A>G:p.Met353Val	coding	Benign
6	33203056	G	A	G33203056A	SLC39A7	NM_006979.3(SLC39A7):c.1087G>A:p.Glu363Lys	coding	Pathogenic
6	33203083	C	T	C33203083T	SLC39A7	NM_006979.3(SLC39A7):c.1114C>T:p.Gln372Ter	coding	Pathogenic
6	33203587	C	T	C33203587T	SLC39A7	NM_006979.3(SLC39A7):c.1184C>T:p.Thr395Ile	coding	Pathogenic
6	33304003	T	C	T33304003C	TAPBP	NM_003190.5(TAPBP):c.1301-14A>G	noncoding	Benign
6	33304277	G	A	G33304277A	TAPBP	NM_003190.5(TAPBP):c.1210+20C>T	noncoding	Benign
6	33305176	C	T	C33305176T	TAPBP	NM_003190.5(TAPBP):c.681G>A:p.Gln227=	coding	Benign
6	33313992	G	C	G33313992C	TAPBP	NM_003190.5(TAPBP):c.37+13C>G	noncoding	Benign
6	33314065	G	T	G33314065T	TAPBP	NM_003190.5(TAPBP):c.-24C>A	noncoding	Benign
6	33314066	A	T	A33314066T	TAPBP	NM_003190.5(TAPBP):c.-25T>A	noncoding	Benign
6	33423398	T	G	T33423398G	SYNGAP1	NM_006772.3(SYNGAP1):c.68-79T>G	noncoding	Benign
6	33423401	C	T	C33423401T	SYNGAP1	NM_006772.3(SYNGAP1):c.68-76C>T	noncoding	Benign
6	33423500	C	T	C33423500T	SYNGAP1	NM_006772.3(SYNGAP1):c.91C>T:p.Arg31Ter	coding	Pathogenic
6	33423511	C	T	C33423511T	SYNGAP1	NM_006772.3(SYNGAP1):c.102C>T:p.Tyr34=	coding	Benign/Likely_benign
6	33423627	G	A	G33423627A	SYNGAP1	NM_006772.3(SYNGAP1):c.189+29G>A	noncoding	Benign
6	33425748	G	A	G33425748A	SYNGAP1	NM_006772.3(SYNGAP1):c.190-50G>A	noncoding	Benign
6	33425796	A	C	A33425796C	SYNGAP1	NM_006772.3(SYNGAP1):c.190-2A>C	noncoding	Pathogenic
6	33425796	A	G	A33425796G	SYNGAP1	NM_006772.3(SYNGAP1):c.190-2A>G	noncoding	Pathogenic
6	33425942	G	T	G33425942T	SYNGAP1	NM_006772.3(SYNGAP1):c.295+39G>T	noncoding	Benign
6	33432001	C	T	C33432001T	SYNGAP1	NM_006772.3(SYNGAP1):c.296-160C>T	noncoding	Benign
6	33432296	C	A	C33432296A	SYNGAP1	NM_006772.3(SYNGAP1):c.387+44C>A	noncoding	Benign
6	33432512	C	A	C33432512A	SYNGAP1	NM_006772.3(SYNGAP1):c.388-173C>A	noncoding	Benign
6	33432658	C	A	C33432658A	SYNGAP1	NM_006772.3(SYNGAP1):c.388-27C>A	noncoding	Benign
6	33432667	T	C	T33432667C	SYNGAP1	NM_006772.3(SYNGAP1):c.388-18T>C	noncoding	Benign
6	33432685	C	T	C33432685T	SYNGAP1	NM_006772.3(SYNGAP1):c.388C>T:p.Gln130Ter	coding	Pathogenic
6	33432744	A	G	A33432744G	SYNGAP1	NM_006772.3(SYNGAP1):c.447A>G:p.Lys149=	coding	Benign/Likely_benign
6	33432799	C	T	C33432799T	SYNGAP1	NM_006772.3(SYNGAP1):c.502C>T:p.His168Tyr	coding	Benign
6	33435102	A	G	A33435102G	SYNGAP1	NM_006772.3(SYNGAP1):c.510-50A>G	noncoding	Benign
6	33435107	T	G	T33435107G	SYNGAP1	NM_006772.3(SYNGAP1):c.510-45T>G	noncoding	Benign
6	33435151	G	A	G33435151A	SYNGAP1	NM_006772.3(SYNGAP1):c.510-1G>A	noncoding	Pathogenic
6	33435245	T	G	T33435245G	SYNGAP1	NM_006772.3(SYNGAP1):c.603T>G:p.Asp201Glu	coding	Benign
6	33435288	C	T	C33435288T	SYNGAP1	NM_006772.3(SYNGAP1):c.646C>T:p.Gln216Ter	coding	Pathogenic
6	33435518	A	T	A33435518T	SYNGAP1	NM_006772.3(SYNGAP1):c.667A>T:p.Thr223Ser	coding	Benign
6	33435545	G	A	G33435545A	SYNGAP1	NM_006772.3(SYNGAP1):c.694G>A:p.Ala232Thr	coding	Benign
6	33435559	G	A	G33435559A	SYNGAP1	NM_006772.3(SYNGAP1):c.708G>A:p.Ala236=	coding	Benign/Likely_benign
6	33435645	C	T	C33435645T	SYNGAP1	NM_006772.3(SYNGAP1):c.762+32C>T	noncoding	Benign
6	33437403	G	A	G33437403A	SYNGAP1	NM_006772.3(SYNGAP1):c.763-265G>A	noncoding	Benign
6	33437827	T	C	T33437827C	SYNGAP1	NM_006772.3(SYNGAP1):c.922T>C:p.Trp308Arg	coding	Pathogenic
6	33437833	G	A	G33437833A	SYNGAP1	NM_006772.3(SYNGAP1):c.928G>A:p.Glu310Lys	coding	Pathogenic/Likely_pathogenic
6	33437994	C	A	C33437994A	SYNGAP1	NM_006772.3(SYNGAP1):c.1089C>A:p.Tyr363Ter	coding	Pathogenic
6	33438071	C	A	C33438071A	SYNGAP1	NM_006772.3(SYNGAP1):c.1166C>A:p.Ser389Ter	coding	Pathogenic
6	33438103	G	C	G33438103C	SYNGAP1	NM_006772.3(SYNGAP1):c.1198G>C:p.Val400Leu	coding	Benign
6	33438189	T	A	T33438189A	SYNGAP1	NM_006772.3(SYNGAP1):c.1284T>A:p.Tyr428Ter	coding	Pathogenic
6	33438231	A	G	A33438231G	SYNGAP1	NM_006772.3(SYNGAP1):c.1326A>G:p.Lys442=	coding	Benign
6	33438351	T	C	T33438351C	SYNGAP1	NM_006772.3(SYNGAP1):c.1386+60T>C	coding	Benign
6	33438615	C	T	C33438615T	SYNGAP1	NM_006772.3(SYNGAP1):c.1531+52C>T	noncoding	Benign
6	33438777	G	T	G33438777T	SYNGAP1	NM_006772.3(SYNGAP1):c.1534G>T:p.Glu512Ter	coding	Pathogenic
6	33438818	G	A	G33438818A	SYNGAP1	NM_006772.3(SYNGAP1):c.1575G>A:p.Glu525=	coding	Benign/Likely_benign
6	33438824	C	T	C33438824T	SYNGAP1	NM_006772.3(SYNGAP1):c.1581C>T:p.Asp527=	coding	Benign/Likely_benign
6	33438837	A	C	A33438837C	SYNGAP1	NM_006772.3(SYNGAP1):c.1594A>C:p.Thr532Pro	coding	Benign
6	33438847	G	C	G33438847C	SYNGAP1	NM_006772.3(SYNGAP1):c.1604G>C:p.Ser535Thr	coding	Benign
6	33438883	G	A	G33438883A	SYNGAP1	NM_006772.3(SYNGAP1):c.1640G>A:p.Cys547Tyr	coding	Pathogenic
6	33438920	G	A	G33438920A	SYNGAP1	NM_006772.3(SYNGAP1):c.1676+1G>A	coding	Pathogenic/Likely_pathogenic
6	33440713	C	T	C33440713T	SYNGAP1	NM_006772.3(SYNGAP1):c.1677-16C>T	noncoding	Benign
6	33440720	T	C	T33440720C	SYNGAP1	NM_006772.3(SYNGAP1):c.1677-9T>C	noncoding	Benign/Likely_benign
6	33440764	C	A	C33440764A	SYNGAP1	NM_006772.3(SYNGAP1):c.1712C>A:p.Ser571Ter	coding	Pathogenic
6	33440767	G	C	G33440767C	SYNGAP1	NM_006772.3(SYNGAP1):c.1715G>C:p.Trp572Ser	coding	Pathogenic
6	33440769	C	T	C33440769T	SYNGAP1	NM_006772.3(SYNGAP1):c.1717C>T:p.Arg573Trp	coding	Pathogenic/Likely_pathogenic
6	33440936	G	A	G33440936A	SYNGAP1	NM_006772.3(SYNGAP1):c.1884G>A:p.Lys628=	coding	Benign/Likely_benign
6	33440940	A	G	A33440940G	SYNGAP1	NM_006772.3(SYNGAP1):c.1888A>G:p.Ile630Val	coding	Benign/Likely_benign
6	33440967	T	G	T33440967G	SYNGAP1	NM_006772.3(SYNGAP1):c.1913+2T>G	noncoding	Pathogenic
6	33441125	G	A	G33441125A	SYNGAP1	NM_006772.3(SYNGAP1):c.1914-48G>A	noncoding	Benign
6	33441141	A	G	A33441141G	SYNGAP1	NM_006772.3(SYNGAP1):c.1914-32A>G	noncoding	Benign
6	33441551	A	C	A33441551C	SYNGAP1	NM_006772.3(SYNGAP1):c.2116-30A>C	noncoding	Benign
6	33441612	G	A	G33441612A	SYNGAP1	NM_006772.3(SYNGAP1):c.2147G>A:p.Arg716Gln	coding	Pathogenic
6	33441662	C	T	C33441662T	SYNGAP1	NM_006772.3(SYNGAP1):c.2197C>T:p.Gln733Ter	coding	Pathogenic
6	33441679	T	G	T33441679G	SYNGAP1	NM_006772.3(SYNGAP1):c.2214T>G:p.Ser738Arg	coding	Benign
6	33441960	T	G	T33441960G	SYNGAP1	NM_006772.3(SYNGAP1):c.2294+201T>G	noncoding	Benign
6	33442285	C	T	C33442285T	SYNGAP1	NM_006772.3(SYNGAP1):c.2295-168C>T	noncoding	Benign
6	33442362	T	C	T33442362C	SYNGAP1	NM_006772.3(SYNGAP1):c.2295-91T>C	noncoding	Benign
6	33442428	C	T	C33442428T	SYNGAP1	NM_006772.3(SYNGAP1):c.2295-25C>T	noncoding	Benign
6	33442511	T	C	T33442511C	SYNGAP1	NM_006772.3(SYNGAP1):c.2336+17T>C	noncoding	Benign
6	33442517	G	C	G33442517C	SYNGAP1	NM_006772.3(SYNGAP1):c.2336+23G>C	noncoding	Benign
6	33442521	T	C	T33442521C	SYNGAP1	NM_006772.3(SYNGAP1):c.2336+27T>C	noncoding	Benign
6	33442902	G	A	G33442902A	SYNGAP1	NM_006772.3(SYNGAP1):c.2350G>A:p.Ala784Thr	coding	Benign
6	33442904	T	C	T33442904C	SYNGAP1	NM_006772.3(SYNGAP1):c.2352T>C:p.Ala784=	coding	Benign/Likely_benign
6	33442921	C	A	C33442921A	SYNGAP1	NM_006772.3(SYNGAP1):c.2369C>A:p.Thr790Asn	coding	Benign/Likely_benign
6	33442961	A	G	A33442961G	SYNGAP1	NM_006772.3(SYNGAP1):c.2409A>G:p.Lys803=	coding	Benign
6	33443002	C	G	C33443002G	SYNGAP1	NM_006772.3(SYNGAP1):c.2450C>G:p.Ser817Ter	coding	Pathogenic
6	33443255	G	A	G33443255A	SYNGAP1	NM_006772.3(SYNGAP1):c.2703G>A:p.Ala901=	coding	Benign
6	33443294	C	T	C33443294T	SYNGAP1	NM_006772.3(SYNGAP1):c.2742C>T:p.Asp914=	coding	Benign/Likely_benign
6	33443334	C	T	C33443334T	SYNGAP1	NM_006772.3(SYNGAP1):c.2782C>T:p.Gln928Ter	coding	Pathogenic
6	33443397	G	A	G33443397A	SYNGAP1	NM_006772.3(SYNGAP1):c.2845G>A:p.Gly949Ser	coding	Benign/Likely_benign
6	33443408	C	T	C33443408T	SYNGAP1	NM_006772.3(SYNGAP1):c.2856C>T:p.Gly952=	coding	Benign/Likely_benign
6	33443425	A	C	A33443425C	SYNGAP1	NM_006772.3(SYNGAP1):c.2873A>C:p.His958Pro	coding	Benign
6	33443498	T	A	T33443498A	SYNGAP1	NM_006772.3(SYNGAP1):c.2946T>A:p.Tyr982Ter	coding	Pathogenic
6	33443789	C	G	C33443789G	SYNGAP1	NM_006772.3(SYNGAP1):c.3237C>G:p.Ser1079Arg	coding	Benign
6	33443860	G	A	G33443860A	SYNGAP1	NM_006772.3(SYNGAP1):c.3308G>A:p.Arg1103His	coding	Benign/Likely_benign
6	33443871	C	T	C33443871T	SYNGAP1	NM_006772.3(SYNGAP1):c.3319C>T:p.Gln1107Ter	coding	Pathogenic
6	33443916	G	A	G33443916A	SYNGAP1	NM_006772.3(SYNGAP1):c.3364G>A:p.Gly1122Ser	coding	Benign/Likely_benign
6	33443949	A	G	A33443949G	SYNGAP1	NM_006772.3(SYNGAP1):c.3397A>G:p.Ile1133Val	coding	Benign
6	33443956	A	C	A33443956C	SYNGAP1	NM_006772.3(SYNGAP1):c.3404A>C:p.Lys1135Thr	coding	Benign
6	33444140	A	T	A33444140T	SYNGAP1	NM_006772.3(SYNGAP1):c.3408+180A>T	noncoding	Benign
6	33444420	C	T	C33444420T	SYNGAP1	NM_006772.3(SYNGAP1):c.3409-24C>T	noncoding	Benign
6	33446530	G	C	G33446530C	SYNGAP1	NM_006772.3(SYNGAP1):c.3583-45G>C	noncoding	Benign
6	33446558	G	A	G33446558A	SYNGAP1	NM_006772.3(SYNGAP1):c.3583-17G>A	noncoding	Benign
6	33446568	C	T	C33446568T	SYNGAP1	NM_006772.3(SYNGAP1):c.3583-7C>T	noncoding	Benign
6	33446677	C	T	C33446677T	SYNGAP1	NM_006772.3(SYNGAP1):c.3685C>T:p.Gln1229Ter	coding	Pathogenic
6	33446849	T	C	T33446849C	SYNGAP1	NM_006772.3(SYNGAP1):c.3794+63T>C	noncoding	Benign
6	33446860	G	T	G33446860T	SYNGAP1	NM_006772.3(SYNGAP1):c.3794+74G>T	noncoding	Benign
6	33447842	G	A	G33447842A	SYNGAP1;SYNGAP1-AS1	NM_006772.3(SYNGAP1):c.3795-1G>A	noncoding	Pathogenic
6	33451837	A	C	A33451837C	SYNGAP1	NM_006772.3(SYNGAP1):c.3963A>C:p.Pro1321=	coding	Benign/Likely_benign
6	33451838	G	C	G33451838C	SYNGAP1	NM_006772.3(SYNGAP1):c.3964G>C:p.Ala1322Pro	coding	Benign
6	33451857	G	C	G33451857C	SYNGAP1	NM_006772.3(SYNGAP1):c.3983G>C:p.Arg1328Pro	coding	Benign
6	33621208	C	A	C33621208A	ITPR3	Single_allele	noncoding	Benign
6	33621255	G	C	G33621255C	ITPR3	Single_allele	noncoding	Benign
6	33621555	C	T	C33621555T	ITPR3	NM_002224.4(ITPR3):c.-48C>T	noncoding	Benign
6	33640439	G	T	G33640439T	ITPR3	NM_002224.4(ITPR3):c.90-45G>T	noncoding	Benign
6	33640602	T	C	T33640602C	ITPR3	NM_002224.4(ITPR3):c.160+48T>C	noncoding	Benign
6	33655732	T	C	T33655732C	ITPR3	NM_002224.4(ITPR3):c.161-34T>C	noncoding	Benign
6	33656045	G	A	G33656045A	ITPR3	NM_002224.4(ITPR3):c.282+158G>A	noncoding	Benign
6	33657919	T	C	T33657919C	ITPR3	NM_002224.4(ITPR3):c.283-13T>C	noncoding	Benign
6	33658940	T	C	T33658940C	ITPR3	NM_002224.4(ITPR3):c.529-81T>C	noncoding	Benign
6	33659135	G	A	G33659135A	ITPR3	NM_002224.4(ITPR3):c.627+16G>A	noncoding	Benign
6	33659300	G	A	G33659300A	ITPR3	NM_002224.4(ITPR3):c.628-166G>A	noncoding	Benign
6	33659590	A	G	A33659590G	ITPR3	NM_002224.4(ITPR3):c.711+41A>G	noncoding	Benign
6	33662352	G	A	G33662352A	ITPR3	NM_002224.4(ITPR3):c.712-176G>A	noncoding	Benign
6	33662695	G	A	G33662695A	ITPR3	NM_002224.4(ITPR3):c.858+21G>A	noncoding	Benign
6	33662847	C	T	C33662847T	ITPR3	NM_002224.4(ITPR3):c.859-64C>T	noncoding	Benign
6	33663039	G	A	G33663039A	ITPR3	NM_002224.4(ITPR3):c.954+33G>A	noncoding	Benign
6	33663069	A	G	A33663069G	ITPR3	NM_002224.4(ITPR3):c.954+63A>G	noncoding	Benign
6	33663386	T	C	T33663386C	ITPR3	NM_002224.4(ITPR3):c.955-114T>C	noncoding	Benign
6	33663863	C	T	C33663863T	ITPR3	NM_002224.4(ITPR3):c.1131C>T:p.Thr377=	coding	Benign
6	33663919	G	A	G33663919A	ITPR3	NM_002224.4(ITPR3):c.1148+39G>A	noncoding	Benign
6	33663955	G	C	G33663955C	ITPR3	NM_002224.4(ITPR3):c.1148+75G>C	noncoding	Benign
6	33664841	C	T	C33664841T	ITPR3	NM_002224.4(ITPR3):c.1149-29C>T	noncoding	Benign
6	33664973	C	T	C33664973T	ITPR3	NM_002224.4(ITPR3):c.1248+4C>T	noncoding	Benign
6	33665750	A	G	A33665750G	ITPR3	NM_002224.4(ITPR3):c.1410-85A>G	noncoding	Benign
6	33666163	G	A	G33666163A	ITPR3	NM_002224.4(ITPR3):c.1551+187G>A	noncoding	Benign
6	33667630	T	A	T33667630A	ITPR3	NM_002224.4(ITPR3):c.1714-162T>A	noncoding	Benign
6	33667921	G	A	G33667921A	ITPR3	NM_002224.4(ITPR3):c.1843G>A:p.Val615Met	coding	Pathogenic
6	33668077	T	C	T33668077C	ITPR3	NM_002224.4(ITPR3):c.1886+113T>C	noncoding	Benign
6	33668455	T	C	T33668455C	ITPR3	NM_002224.4(ITPR3):c.1887-60T>C	noncoding	Benign
6	33668883	C	G	C33668883G	ITPR3	NM_002224.4(ITPR3):c.2007-91C>G	noncoding	Benign
6	33670120	A	C	A33670120C	ITPR3	NM_002224.4(ITPR3):c.2190-205A>C	noncoding	Benign
6	33670403	C	T	C33670403T	ITPR3	NM_002224.4(ITPR3):c.2268C>T:p.Gly756=	coding	Benign
6	33670523	G	A	G33670523A	ITPR3	NM_002224.4(ITPR3):c.2388G>A:p.Pro796=	coding	Benign
6	33670880	G	A	G33670880A	ITPR3	NM_002224.4(ITPR3):c.2586+65G>A	noncoding	Benign
6	33671983	G	C	G33671983C	ITPR3	NM_002224.4(ITPR3):c.2729-46G>C	noncoding	Benign
6	33673417	C	T	C33673417T	ITPR3	NM_002224.4(ITPR3):c.2929-174C>T	noncoding	Benign
6	33673602	T	C	T33673602C	ITPR3	NM_002224.4(ITPR3):c.2940T>C:p.Asn980=	coding	Benign
6	33673944	C	T	C33673944T	ITPR3	NM_002224.4(ITPR3):c.3058+224C>T	noncoding	Benign
6	33674120	G	A	G33674120A	ITPR3	NM_002224.4(ITPR3):c.3059-88G>A	noncoding	Benign
6	33674179	T	C	T33674179C	ITPR3	NM_002224.4(ITPR3):c.3059-29T>C	noncoding	Benign
6	33675781	G	A	G33675781A	ITPR3	NM_002224.4(ITPR3):c.3207G>A:p.Pro1069=	coding	Benign
6	33676991	T	C	T33676991C	ITPR3	NM_002224.4(ITPR3):c.3448-24T>C	noncoding	Benign
6	33676996	T	A	T33676996A	ITPR3	NM_002224.4(ITPR3):c.3448-19T>A	noncoding	Benign
6	33677338	G	T	G33677338T	ITPR3	NM_002224.4(ITPR3):c.3523-166G>T	noncoding	Benign
6	33677680	C	G	C33677680G	ITPR3	NM_002224.4(ITPR3):c.3648+51C>G	noncoding	Benign
6	33678598	C	T	C33678598T	ITPR3	NM_002224.4(ITPR3):c.3772-41C>T	noncoding	Benign
6	33679817	C	A	C33679817A	ITPR3	NM_002224.4(ITPR3):c.3973-65C>A	noncoding	Benign
6	33679874	A	G	A33679874G	ITPR3	NM_002224.4(ITPR3):c.3973-8A>G	noncoding	Benign
6	33680159	C	T	C33680159T	ITPR3	NM_002224.4(ITPR3):c.4224+26C>T	noncoding	Benign
6	33680320	A	G	A33680320G	ITPR3	NM_002224.4(ITPR3):c.4225-9A>G	noncoding	Benign
6	33680367	C	T	C33680367T	ITPR3	NM_002224.4(ITPR3):c.4263C>T:p.Tyr1421=	coding	Benign
6	33680375	C	T	C33680375T	ITPR3	NM_002224.4(ITPR3):c.4271C>T:p.Thr1424Met	coding	Pathogenic
6	33680699	A	C	A33680699C	ITPR3	NM_002224.4(ITPR3):c.4476+19A>C	noncoding	Benign
6	33682420	G	C	G33682420C	ITPR3	NM_002224.4(ITPR3):c.4477-104G>C	noncoding	Benign
6	33682425	T	C	T33682425C	ITPR3	NM_002224.4(ITPR3):c.4477-99T>C	noncoding	Benign
6	33682429	C	T	C33682429T	ITPR3	NM_002224.4(ITPR3):c.4477-95C>T	noncoding	Benign
6	33682690	C	T	C33682690T	ITPR3	NM_002224.4(ITPR3):c.4597+46C>T	noncoding	Benign
6	33682844	G	A	G33682844A	ITPR3	NM_002224.4(ITPR3):c.4597+200G>A	noncoding	Benign
6	33683035	G	A	G33683035A	ITPR3	NM_002224.4(ITPR3):c.4598-172G>A	noncoding	Benign
6	33683352	C	T	C33683352T	ITPR3	NM_002224.4(ITPR3):c.4743C>T:p.Pro1581=	coding	Benign
6	33683500	C	T	C33683500T	ITPR3	NM_002224.4(ITPR3):c.4788+103C>T	noncoding	Benign
6	33683545	T	C	T33683545C	ITPR3	NM_002224.4(ITPR3):c.4788+148T>C	noncoding	Benign
6	33683953	G	A	G33683953A	ITPR3	NM_002224.4(ITPR3):c.4789-67G>A	noncoding	Benign
6	33684198	C	G	C33684198G	ITPR3	NM_002224.4(ITPR3):c.4937+30C>G	noncoding	Benign
6	33685103	G	A	G33685103A	ITPR3	NM_002224.4(ITPR3):c.5307+160G>A	noncoding	Benign
6	33685166	C	A	C33685166A	ITPR3	NM_002224.4(ITPR3):c.5308-193C>A	noncoding	Benign
6	33685709	G	A	G33685709A	ITPR3	NM_002224.4(ITPR3):c.5549G>A:p.Arg1850Gln	coding	Benign
6	33685861	C	T	C33685861T	ITPR3	NM_002224.4(ITPR3):c.5667+34C>T	noncoding	Benign
6	33686601	A	G	A33686601G	ITPR3	NM_002224.4(ITPR3):c.5979+82A>G	noncoding	Benign
6	33686609	G	A	G33686609A	ITPR3	NM_002224.4(ITPR3):c.5979+90G>A	noncoding	Benign
6	33686814	G	C	G33686814C	ITPR3	NM_002224.4(ITPR3):c.5980-195G>C	noncoding	Benign
6	33687120	T	C	T33687120C	ITPR3	NM_002224.4(ITPR3):c.6075+16T>C	noncoding	Benign
6	33687396	T	C	T33687396C	ITPR3	NM_002224.4(ITPR3):c.6177+69T>C	noncoding	Benign
6	33687951	G	C	G33687951C	ITPR3	NM_002224.4(ITPR3):c.6265-106G>C	noncoding	Benign
6	33688473	T	C	T33688473C	ITPR3	NM_002224.4(ITPR3):c.6568+42T>C	noncoding	Benign
6	33688639	G	A	G33688639A	ITPR3	NM_002224.4(ITPR3):c.6569-17G>A	noncoding	Benign
6	33688877	C	G	C33688877G	ITPR3	NM_002224.4(ITPR3):c.6694+96C>G	noncoding	Benign
6	33689073	C	T	C33689073T	ITPR3	NM_002224.4(ITPR3):c.6695-165C>T	noncoding	Benign
6	33689192	G	A	G33689192A	ITPR3	NM_002224.4(ITPR3):c.6695-46G>A	noncoding	Benign
6	33689469	C	T	C33689469T	ITPR3	NM_002224.4(ITPR3):c.6867+59C>T	noncoding	Benign
6	33690289	G	C	G33690289C	ITPR3	NM_002224.4(ITPR3):c.7032+91G>C	noncoding	Benign
6	33690332	A	T	A33690332T	ITPR3	NM_002224.4(ITPR3):c.7032+134A>T	noncoding	Benign
6	33690757	G	A	G33690757A	ITPR3	NM_002224.4(ITPR3):c.7033-160G>A	noncoding	Benign
6	33690775	C	A	C33690775A	ITPR3	NM_002224.4(ITPR3):c.7033-142C>A	noncoding	Benign
6	33691003	C	T	C33691003T	ITPR3	NM_002224.4(ITPR3):c.7119C>T:p.Ala2373=	coding	Benign
6	33691269	G	A	G33691269A	ITPR3	NM_002224.4(ITPR3):c.7225+160G>A	noncoding	Benign
6	33691399	G	A	G33691399A	ITPR3	NM_002224.4(ITPR3):c.7226-216G>A	noncoding	Benign
6	33691695	C	G	C33691695G	ITPR3	NM_002224.4(ITPR3):c.7306C>G:p.Leu2436Val	coding	Benign
6	33691759	A	G	A33691759G	ITPR3	NM_002224.4(ITPR3):c.7330+40A>G	noncoding	Benign
6	33691780	C	T	C33691780T	ITPR3	NM_002224.4(ITPR3):c.7331-21C>T	noncoding	Benign
6	33692016	G	A	G33692016A	ITPR3	NM_002224.4(ITPR3):c.7458+88G>A	noncoding	Benign
6	33692594	G	A	G33692594A	ITPR3	NM_002224.4(ITPR3):c.7459-134G>A	noncoding	Benign
6	33692634	T	C	T33692634C	ITPR3	NM_002224.4(ITPR3):c.7459-94T>C	noncoding	Benign
6	33692839	C	T	C33692839T	ITPR3	NM_002224.4(ITPR3):c.7570C>T:p.Arg2524Cys	coding	Pathogenic
6	33692918	G	C	G33692918C	ITPR3	NM_002224.4(ITPR3):c.7624+25G>C	noncoding	Benign
6	33693002	A	G	A33693002G	ITPR3	NM_002224.4(ITPR3):c.7624+109A>G	noncoding	Benign
6	33693329	T	C	T33693329C	ITPR3	NM_002224.4(ITPR3):c.7625-216T>C	noncoding	Benign
6	33693445	C	G	C33693445G	ITPR3	NM_002224.4(ITPR3):c.7625-100C>G	noncoding	Benign
6	33694890	C	T	C33694890T	ITPR3	NM_002224.4(ITPR3):c.7786-34C>T	noncoding	Benign
6	33695278	G	A	G33695278A	ITPR3	NM_002224.4(ITPR3):c.7947+193G>A	noncoding	Benign
6	33695674	C	T	C33695674T	ITPR3	NM_002224.4(ITPR3):c.7948-38C>T	noncoding	Benign
6	33697541	G	A	G33697541A	UQCC2	NM_032340.4(UQCC2):c.*112C>T	noncoding	Benign
6	33700593	A	G	A33700593G	UQCC2	NM_032340.4(UQCC2):c.214-80T>C	noncoding	Benign
6	33700737	C	T	C33700737T	UQCC2	NM_032340.4(UQCC2):c.214-224G>A	noncoding	Benign
6	33711819	A	C	A33711819C	UQCC2	Single_allele	noncoding	Benign
6	33772548	G	C	G33772548C	LEMD2	NM_181336.4(LEMD2):c.*80C>G	noncoding	Benign
6	33772605	G	A	G33772605A	LEMD2	NM_181336.4(LEMD2):c.*23C>T	noncoding	Benign
6	33772815	C	T	C33772815T	LEMD2	NM_181336.4(LEMD2):c.1362-37G>A	noncoding	Benign
6	33776934	C	T	C33776934T	LEMD2	NM_181336.4(LEMD2):c.1361+20G>A	noncoding	Benign
6	33776945	G	A	G33776945A	LEMD2	NM_181336.4(LEMD2):c.1361+9C>T	noncoding	Benign
6	33777037	G	A	G33777037A	LEMD2	NM_181336.4(LEMD2):c.1278C>T:p.Tyr426=	coding	Benign
6	33777103	G	A	G33777103A	LEMD2	NM_181336.4(LEMD2):c.1258+35C>T	noncoding	Benign
6	33777105	C	G	C33777105G	LEMD2	NM_181336.4(LEMD2):c.1258+33G>C	noncoding	Benign
6	33781054	T	G	T33781054G	LEMD2	NM_181336.4(LEMD2):c.930+23A>C	noncoding	Benign
6	33784168	G	A	G33784168A	LEMD2	NM_181336.4(LEMD2):c.853+184C>T	noncoding	Benign
6	33784236	A	G	A33784236G	LEMD2	NM_181336.4(LEMD2):c.853+116T>C	noncoding	Benign
6	33786524	T	C	T33786524C	LEMD2	NM_181336.4(LEMD2):c.777+210A>G	noncoding	Benign
6	33786619	A	G	A33786619G	LEMD2	NM_181336.4(LEMD2):c.777+115T>C	noncoding	Benign
6	33786815	G	A	G33786815A	LEMD2	NM_181336.4(LEMD2):c.737-41C>T	coding	Benign
6	33788249	C	T	C33788249T	LEMD2	NM_181336.4(LEMD2):c.736+132G>A	noncoding	Benign
6	33788755	G	A	G33788755A	LEMD2	NM_181336.4(LEMD2):c.362C>T:p.Ala121Val	coding	Benign
6	33788782	G	A	G33788782A	LEMD2	NM_181336.4(LEMD2):c.335C>T:p.Ala112Val	coding	Benign
6	33789237	G	T	G33789237T	LEMD2	Single_allele	noncoding	Benign
6	33789270	G	C	G33789270C	LEMD2	Single_allele	noncoding	Benign
6	34417740	A	T	A34417740T	RPS10	NM_001014.5(RPS10):c.457-193T>A	noncoding	Benign
6	34418381	G	A	G34418381A	RPS10	NM_001014.5(RPS10):c.444C>T:p.Thr148=	coding	Benign/Likely_benign
6	34418626	A	T	A34418626T	RPS10	NM_001014.5(RPS10):c.401-202T>A	noncoding	Benign
6	34421583	T	C	T34421583C	RPS10	NM_001014.5(RPS10):c.400+147A>G	noncoding	Benign
6	34424787	G	A	G34424787A	RPS10	NM_001014.5(RPS10):c.204C>T:p.Tyr68=	coding	Benign/Likely_benign
6	34425221	T	C	T34425221C	RPS10	NM_001014.5(RPS10):c.1A>G:p.Met1Val	coding	Pathogenic
6	34425499	G	A	G34425499A	RPS10	NM_001014.5(RPS10):c.1-278C>T	noncoding	Benign
6	35228696	C	G	C35228696G	SCUBE3	NM_152753.4(SCUBE3):c.291C>G:p.Cys97Trp	coding	Pathogenic
6	35233200	G	A	G35233200A	SCUBE3	NM_152753.4(SCUBE3):c.611G>A:p.Gly204Asp	coding	Pathogenic
6	35242644	C	A	C35242644A	SCUBE3	NM_152753.4(SCUBE3):c.1557C>A:p.Cys519Ter	coding	Pathogenic
6	35243044	C	T	C35243044T	SCUBE3	NM_152753.4(SCUBE3):c.1717C>T:p.Arg573Ter	coding	Pathogenic
6	35244131	G	A	G35244131A	SCUBE3	NM_152753.4(SCUBE3):c.2239+1G>A	coding	Pathogenic
6	35245270	T	C	T35245270C	SCUBE3	NM_152753.4(SCUBE3):c.2444T>C:p.Ile815Thr	coding	Pathogenic/Likely_pathogenic
6	35245427	T	C	T35245427C	SCUBE3	NM_152753.4(SCUBE3):c.2599+2T>C	noncoding	Pathogenic
6	35246238	C	T	C35246238T	SCUBE3	NM_152753.4(SCUBE3):c.2785C>T:p.Arg929Ter	coding	Pathogenic
6	35297934	C	T	C35297934T	DEF6	NM_022047.4(DEF6):c.78C>T:p.Val26=	coding	Benign
6	35309789	C	T	C35309789T	DEF6	NM_022047.4(DEF6):c.216C>T:p.Leu72=	coding	Benign
6	35310578	C	T	C35310578T	DEF6	NM_022047.4(DEF6):c.357C>T:p.Phe119=	coding	Benign
6	35312506	T	G	T35312506G	DEF6	NM_022047.4(DEF6):c.628T>G:p.Tyr210Asp	coding	Pathogenic
6	35317942	A	C	A35317942C	DEF6	NM_022047.4(DEF6):c.859A>C:p.Asn287His	coding	Benign
6	35317943	A	C	A35317943C	DEF6	NM_022047.4(DEF6):c.860A>C:p.Asn287Thr	coding	Benign
6	35318003	A	G	A35318003G	DEF6	NM_022047.4(DEF6):c.916+4A>G	noncoding	Benign
6	35318196	C	T	C35318196T	DEF6	NM_022047.4(DEF6):c.940C>T:p.Gln314Ter	coding	Pathogenic
6	35318246	C	T	C35318246T	DEF6	NM_022047.4(DEF6):c.990C>T:p.Arg330=	coding	Benign
6	35318298	C	T	C35318298T	DEF6	NM_022047.4(DEF6):c.1042C>T:p.Leu348=	coding	Benign
6	35319978	G	A	G35319978A	DEF6	NM_022047.4(DEF6):c.1542G>A:p.Glu514=	coding	Benign
6	35320034	G	T	G35320034T	DEF6	NM_022047.4(DEF6):c.1581+17G>T	noncoding	Benign
6	35320878	C	T	C35320878T	DEF6	NM_022047.4(DEF6):c.1582-6C>T	noncoding	Benign
6	35320919	C	T	C35320919T	DEF6	NM_022047.4(DEF6):c.1617C>T:p.Asn539=	coding	Benign
6	35321398	A	C	A35321398C	DEF6	NM_022047.4(DEF6):c.1884A>C:p.Ala628=	coding	Benign
6	35452851	A	C	A35452851C	FANCE	NM_021922.3(FANCE):c.248+58A>C	noncoding	Benign
6	35455763	C	T	C35455763T	FANCE	NM_021922.3(FANCE):c.265C>T:p.Arg89Ter	coding	Pathogenic
6	35456411	A	G	A35456411G	FANCE	NM_021922.3(FANCE):c.855+58A>G	noncoding	Benign
6	35456491	A	G	A35456491G	FANCE	NM_021922.3(FANCE):c.855+138A>G	noncoding	Benign
6	35457486	G	A	G35457486A	FANCE	NM_021922.3(FANCE):c.856-70G>A	noncoding	Benign
6	35458213	T	C	T35458213C	FANCE	NM_021922.3(FANCE):c.970-84T>C	noncoding	Benign
6	35458281	C	T	C35458281T	FANCE	NM_021922.3(FANCE):c.970-16C>T	noncoding	Benign
6	35458438	C	T	C35458438T	FANCE	NM_021922.3(FANCE):c.1111C>T:p.Arg371Trp	coding	Pathogenic/Likely_pathogenic
6	35460613	C	G	C35460613G	FANCE	NM_021922.3(FANCE):c.1378C>G:p.Arg460Gly	coding	Benign
6	35460850	G	C	G35460850C	FANCE	NM_021922.3(FANCE):c.1383+232G>C	noncoding	Benign
6	35462914	C	T	C35462914T	FANCE	NM_021922.3(FANCE):c.1509C>T:p.Asn503=	coding	Benign/Likely_benign
6	35498466	G	T	G35498466T	TULP1	NM_003322.6(TULP1):c.1496-6C>A	noncoding	Pathogenic/Likely_pathogenic
6	35500010	T	C	T35500010C	TULP1	NM_003322.6(TULP1):c.1466A>G:p.Lys489Arg	coding	Pathogenic
6	35500031	C	T	C35500031T	TULP1	NM_003322.6(TULP1):c.1445G>A:p.Arg482Gln	coding	Pathogenic
6	35500114	C	T	C35500114T	TULP1	NM_003322.6(TULP1):c.1362G>A:p.Thr454=	coding	Benign/Likely_benign
6	35500125	G	A	G35500125A	TULP1	NM_003322.6(TULP1):c.1351C>T:p.Gln451Ter	coding	Pathogenic
6	35500262	G	C	G35500262C	TULP1	NM_003322.6(TULP1):c.1324-110C>G	noncoding	Benign
6	35503564	G	A	G35503564A	TULP1	NM_003322.6(TULP1):c.1318C>T:p.Arg440Ter	coding	Pathogenic/Likely_pathogenic
6	35503627	G	A	G35503627A	TULP1	NM_003322.6(TULP1):c.1255C>T:p.Arg419Trp	coding	Pathogenic
6	35503762	C	T	C35503762T	TULP1	NM_003322.6(TULP1):c.1199G>A:p.Arg400Gln	coding	Pathogenic
6	35503796	G	A	G35503796A	TULP1	NM_003322.6(TULP1):c.1165C>T:p.Gln389Ter	coding	Pathogenic
6	35505739	A	C	A35505739C	TULP1	NM_003322.6(TULP1):c.1112+2T>G	noncoding	Pathogenic
6	35505787	G	T	G35505787T	TULP1	NM_003322.6(TULP1):c.1066C>A:p.Pro356Thr	coding	Pathogenic
6	35505829	G	A	G35505829A	TULP1	NM_003322.6(TULP1):c.1024C>T:p.Arg342Ter	coding	Pathogenic/Likely_pathogenic
6	35506070	C	T	C35506070T	TULP1	NM_003322.6(TULP1):c.932G>A:p.Arg311Gln	coding	Pathogenic/Likely_pathogenic
6	35506102	G	C	G35506102C	TULP1	NM_003322.6(TULP1):c.900C>G:p.Pro300=	coding	Benign
6	35506146	C	T	C35506146T	TULP1	NM_003322.6(TULP1):c.856G>A:p.Val286Met	coding	Benign
6	35506296	C	G	C35506296G	TULP1	NM_003322.6(TULP1):c.823-17G>C	noncoding	Benign
6	35509241	G	A	G35509241A	TULP1	NM_003322.6(TULP1):c.790C>T:p.Gln264Ter	coding	Pathogenic
6	35509375	C	T	C35509375T	TULP1	NM_003322.6(TULP1):c.719-63G>A	noncoding	Benign
6	35510835	G	A	G35510835A	TULP1	NM_003322.6(TULP1):c.499+26C>T	noncoding	Benign
6	35510873	G	A	G35510873A	TULP1	NM_003322.6(TULP1):c.487C>T:p.Gln163Ter	coding	Pathogenic
6	35510924	G	T	G35510924T	TULP1	NM_003322.6(TULP1):c.436C>A:p.Pro146Thr	coding	Benign
6	35512183	C	A	C35512183A	TULP1	NM_003322.6(TULP1):c.187G>T:p.Gly63Ter	coding	Pathogenic
6	35512270	G	A	G35512270A	TULP1	NM_003322.6(TULP1):c.100C>T:p.Arg34Ter	coding	Pathogenic/Likely_pathogenic
6	35512485	T	C	T35512485C	TULP1	NM_003322.6(TULP1):c.99+154A>G	noncoding	Benign
6	35574699	C	A	C35574699A	FKBP5	NM_004117.4(FKBP5):c.*1136G>T	noncoding	Benign
6	35804978	G	A	G35804978A	LHFPL5	Single_allele	noncoding	Benign
6	35806065	G	A	G35806065A	LHFPL5	NM_182548.4(LHFPL5):c.395G>A:p.Trp132Ter	coding	Pathogenic
6	35819464	G	A	G35819464A	LHFPL5	NM_182548.4(LHFPL5):c.*16+1G>A	noncoding	Pathogenic
6	35819640	C	T	C35819640T	LHFPL5	NM_182548.4(LHFPL5):c.*16+177C>T	noncoding	Benign
6	35819722	A	G	A35819722G	LHFPL5	NM_182548.4(LHFPL5):c.*16+259A>G	noncoding	Benign
6	35944492	A	G	A35944492G	SLC26A8	NM_052961.4(SLC26A8):c.2473-152T>C	noncoding	Benign
6	35955469	T	C	T35955469C	SLC26A8	NM_052961.4(SLC26A8):c.1915A>G:p.Ile639Val	coding	Benign
6	35960001	C	T	C35960001T	SLC26A8	NM_052961.4(SLC26A8):c.1639-195G>A	noncoding	Benign
6	35977566	C	T	C35977566T	SLC26A8	NM_052961.4(SLC26A8):c.1026-215G>A	noncoding	Benign
6	35982298	G	C	G35982298C	SLC26A8	NM_052961.4(SLC26A8):c.943-95C>G	noncoding	Benign
6	35982433	T	C	T35982433C	SLC26A8	NM_052961.4(SLC26A8):c.943-230A>G	noncoding	Benign
6	35991441	T	G	T35991441G	SLC26A8	NM_052961.4(SLC26A8):c.942+218A>C	noncoding	Benign
6	35992613	C	T	C35992613T	SLC26A8	NM_052961.4(SLC26A8):c.689G>A:p.Ser230Asn	coding	Benign
6	35992837	C	T	C35992837T	SLC26A8	NM_052961.4(SLC26A8):c.628-163G>A	noncoding	Benign
6	35997588	C	T	C35997588T	SLC26A8	NM_052961.4(SLC26A8):c.627+150G>A	noncoding	Benign
6	35998033	C	T	C35998033T	SLC26A8	NM_052961.4(SLC26A8):c.446-114G>A	noncoding	Benign
6	35998092	T	A	T35998092A	SLC26A8	NM_052961.4(SLC26A8):c.446-173A>T	noncoding	Benign
6	35999995	T	C	T35999995C	SLC26A8	NM_052961.4(SLC26A8):c.442A>G:p.Ile148Val	coding	Benign
6	36000323	T	C	T36000323C	SLC26A8	NM_052961.4(SLC26A8):c.329-215A>G	noncoding	Benign
6	36012271	A	G	A36012271G	SLC26A8	NM_052961.4(SLC26A8):c.290T>C:p.Leu97Pro	coding	Pathogenic
6	36012344	C	T	C36012344T	SLC26A8	NM_052961.4(SLC26A8):c.217G>A:p.Val73Met	coding	Benign
6	36012349	C	A	C36012349A	SLC26A8	NM_052961.4(SLC26A8):c.212G>T:p.Arg71Leu	coding	Pathogenic
6	36019445	A	G	A36019445G	SLC26A8	NM_052961.4(SLC26A8):c.188+75T>C	noncoding	Benign
6	36019868	T	C	T36019868C	SLC26A8	NM_052961.4(SLC26A8):c.-2-159A>G	noncoding	Benign
6	36270874	G	A	G36270874A	PNPLA1	NM_001374623.1(PNPLA1):c.205+210G>A	noncoding	Benign
6	36291158	T	G	T36291158G	PNPLA1	NM_001374623.1(PNPLA1):c.206-162T>G	noncoding	Benign
6	36291586	A	G	A36291586G	PNPLA1	NM_001374623.1(PNPLA1):c.438+34A>G	noncoding	Benign
6	36291689	A	T	A36291689T	PNPLA1	NM_001374623.1(PNPLA1):c.438+137A>T	noncoding	Benign
6	36292752	A	G	A36292752G	PNPLA1	NM_001374623.1(PNPLA1):c.439-309A>G	noncoding	Benign
6	36292809	G	A	G36292809A	PNPLA1	NM_001374623.1(PNPLA1):c.439-252G>A	noncoding	Benign
6	36293118	C	T	C36293118T	PNPLA1	NM_001374623.1(PNPLA1):c.496C>T:p.Arg166Cys	coding	Pathogenic
6	36293231	A	G	A36293231G	PNPLA1	NM_001374623.1(PNPLA1):c.504+105A>G	noncoding	Benign
6	36293893	T	G	T36293893G	PNPLA1	NM_001374623.1(PNPLA1):c.505-297T>G	noncoding	Benign
6	36294108	A	G	A36294108G	PNPLA1	NM_001374623.1(PNPLA1):c.505-82A>G	noncoding	Benign
6	36294581	C	T	C36294581T	PNPLA1	NM_001374623.1(PNPLA1):c.714+182C>T	noncoding	Benign
6	36294605	C	T	C36294605T	PNPLA1	NM_001374623.1(PNPLA1):c.714+206C>T	noncoding	Benign
6	36294686	C	A	C36294686A	PNPLA1	NM_001374623.1(PNPLA1):c.714+287C>A	noncoding	Benign
6	36294706	G	A	G36294706A	PNPLA1	NM_001374623.1(PNPLA1):c.714+307G>A	noncoding	Benign
6	36295150	A	T	A36295150T	PNPLA1	NM_001374623.1(PNPLA1):c.715-214A>T	noncoding	Benign
6	36295163	G	A	G36295163A	PNPLA1	NM_001374623.1(PNPLA1):c.715-201G>A	noncoding	Benign
6	36295214	C	T	C36295214T	PNPLA1	NM_001374623.1(PNPLA1):c.715-150C>T	noncoding	Benign
6	36301727	G	A	G36301727A	PNPLA1	NM_001374623.1(PNPLA1):c.776-134G>A	noncoding	Benign
6	36301826	G	A	G36301826A	PNPLA1	NM_001374623.1(PNPLA1):c.776-35G>A	noncoding	Benign
6	36301977	C	T	C36301977T	PNPLA1	NM_001374623.1(PNPLA1):c.892C>T:p.Arg298Ter	coding	Pathogenic
6	36302169	A	G	A36302169G	PNPLA1	NM_001374623.1(PNPLA1):c.1084A>G:p.Thr362Ala	coding	Benign
6	36307447	A	T	A36307447T	PNPLA1	NM_001374623.1(PNPLA1):c.1470-140A>T	noncoding	Benign
6	36855995	T	C	T36855995C	PPIL1	NM_016059.5(PPIL1):c.319A>G:p.Thr107Ala	coding	Pathogenic/Likely_pathogenic
6	36856019	C	T	C36856019T	PPIL1	NM_016059.5(PPIL1):c.295G>A:p.Ala99Thr	coding	Pathogenic/Likely_pathogenic
6	38722581	G	T	G38722581T	DNAH8	NM_001206927.2(DNAH8):c.-34-195G>T	noncoding	Benign
6	38722583	G	T	G38722583T	DNAH8	NM_001206927.2(DNAH8):c.-34-193G>T	noncoding	Benign
6	38722585	T	G	T38722585G	DNAH8	NM_001206927.2(DNAH8):c.-34-191T>G	noncoding	Benign
6	38722587	T	G	T38722587G	DNAH8	NM_001206927.2(DNAH8):c.-34-189T>G	noncoding	Benign
6	38723576	C	T	C38723576T	DNAH8	NM_001206927.2(DNAH8):c.525+105C>T	noncoding	Benign
6	38723584	C	T	C38723584T	DNAH8	NM_001206927.2(DNAH8):c.525+113C>T	noncoding	Benign
6	38729610	A	T	A38729610T	DNAH8	NM_001206927.2(DNAH8):c.526-292A>T	noncoding	Benign
6	38730063	A	G	A38730063G	DNAH8	NM_001206927.2(DNAH8):c.610+77A>G	noncoding	Benign
6	38730068	T	G	T38730068G	DNAH8	NM_001206927.2(DNAH8):c.610+82T>G	noncoding	Benign
6	38730271	G	A	G38730271A	DNAH8	NM_001206927.2(DNAH8):c.610+285G>A	noncoding	Benign
6	38734393	C	G	C38734393G	DNAH8	NM_001206927.2(DNAH8):c.611-81C>G	noncoding	Benign
6	38734436	G	A	G38734436A	DNAH8	NM_001206927.2(DNAH8):c.611-38G>A	noncoding	Benign
6	38734763	A	T	A38734763T	DNAH8	NM_001206927.2(DNAH8):c.762+138A>T	noncoding	Benign
6	38734785	G	A	G38734785A	DNAH8	NM_001206927.2(DNAH8):c.762+160G>A	noncoding	Benign
6	38736792	T	G	T38736792G	DNAH8	NM_001206927.2(DNAH8):c.763-275T>G	noncoding	Benign
6	38737270	T	C	T38737270C	DNAH8	NM_001206927.2(DNAH8):c.952+14T>C	noncoding	Benign
6	38737610	A	G	A38737610G	DNAH8	NM_001206927.2(DNAH8):c.953-199A>G	noncoding	Benign
6	38738257	A	G	A38738257G	DNAH8	NM_001206927.2(DNAH8):c.1116+285A>G	noncoding	Benign
6	38742184	C	T	C38742184T	DNAH8	NM_001206927.2(DNAH8):c.1293+297C>T	noncoding	Benign
6	38750206	A	G	A38750206G	DNAH8	NM_001206927.2(DNAH8):c.1294-270A>G	noncoding	Benign
6	38750410	C	T	C38750410T	DNAH8	NM_001206927.2(DNAH8):c.1294-66C>T	noncoding	Benign
6	38750609	A	G	A38750609G	DNAH8	NM_001206927.2(DNAH8):c.1407+20A>G	noncoding	Benign
6	38750780	T	C	T38750780C	DNAH8	NM_001206927.2(DNAH8):c.1407+191T>C	noncoding	Benign
6	38750807	T	A	T38750807A	DNAH8	NM_001206927.2(DNAH8):c.1407+218T>A	noncoding	Benign
6	38750907	A	G	A38750907G	DNAH8	NM_001206927.2(DNAH8):c.1407+318A>G	noncoding	Benign
6	38750913	A	G	A38750913G	DNAH8	NM_001206927.2(DNAH8):c.1407+324A>G	noncoding	Benign
6	38755799	G	A	G38755799A	DNAH8	NM_001206927.2(DNAH8):c.1408-173G>A	noncoding	Benign
6	38755894	A	G	A38755894G	DNAH8	NM_001206927.2(DNAH8):c.1408-78A>G	noncoding	Benign
6	38756280	A	T	A38756280T	DNAH8	NM_001206927.2(DNAH8):c.1515+201A>T	noncoding	Benign
6	38756409	G	C	G38756409C	DNAH8	NM_001206927.2(DNAH8):c.1515+330G>C	noncoding	Benign
6	38761454	G	A	G38761454A	DNAH8	NM_001206927.2(DNAH8):c.1516-248G>A	noncoding	Benign
6	38761682	T	C	T38761682C	DNAH8	NM_001206927.2(DNAH8):c.1516-20T>C	noncoding	Benign
6	38770761	A	G	A38770761G	DNAH8	NM_001206927.2(DNAH8):c.1764+202A>G	noncoding	Benign
6	38775476	C	T	C38775476T	DNAH8	NM_001206927.2(DNAH8):c.1765-278C>T	noncoding	Benign
6	38775736	A	C	A38775736C	DNAH8	NM_001206927.2(DNAH8):c.1765-18A>C	noncoding	Benign
6	38778171	T	C	T38778171C	DNAH8	NM_001206927.2(DNAH8):c.1963-217T>C	noncoding	Benign
6	38778314	A	G	A38778314G	DNAH8	NM_001206927.2(DNAH8):c.1963-74A>G	noncoding	Benign
6	38778322	C	T	C38778322T	DNAH8	NM_001206927.2(DNAH8):c.1963-66C>T	noncoding	Benign
6	38778487	A	T	A38778487T	DNAH8	NM_001206927.2(DNAH8):c.2039+23A>T	noncoding	Benign
6	38778518	A	G	A38778518G	DNAH8	NM_001206927.2(DNAH8):c.2039+54A>G	noncoding	Benign
6	38778742	G	A	G38778742A	DNAH8	NM_001206927.2(DNAH8):c.2039+278G>A	noncoding	Benign
6	38779805	C	T	C38779805T	DNAH8	NM_001206927.2(DNAH8):c.2040-161C>T	noncoding	Benign
6	38779994	G	A	G38779994A	DNAH8	NM_001206927.2(DNAH8):c.2068G>A:p.Gly690Arg	coding	Benign
6	38780193	G	A	G38780193A	DNAH8	NM_001206927.2(DNAH8):c.2139+128G>A	noncoding	Benign
6	38780970	T	G	T38780970G	DNAH8	NM_001206927.2(DNAH8):c.2140-284T>G	noncoding	Benign
6	38781435	A	G	A38781435G	DNAH8	NM_001206927.2(DNAH8):c.2259+62A>G	noncoding	Benign
6	38781583	C	T	C38781583T	DNAH8	NM_001206927.2(DNAH8):c.2259+210C>T	noncoding	Benign
6	38781686	C	T	C38781686T	DNAH8	NM_001206927.2(DNAH8):c.2259+313C>T	noncoding	Benign
6	38782766	G	A	G38782766A	DNAH8	NM_001206927.2(DNAH8):c.2260-238G>A	noncoding	Benign
6	38782929	A	G	A38782929G	DNAH8	NM_001206927.2(DNAH8):c.2260-75A>G	noncoding	Benign
6	38782964	A	T	A38782964T	DNAH8	NM_001206927.2(DNAH8):c.2260-40A>T	noncoding	Benign
6	38783036	T	C	T38783036C	DNAH8	NM_001206927.2(DNAH8):c.2292T>C:p.Gly764=	coding	Benign
6	38783112	A	G	A38783112G	DNAH8	NM_001206927.2(DNAH8):c.2368A>G:p.Ile790Val	coding	Benign
6	38783384	T	G	T38783384G	DNAH8	NM_001206927.2(DNAH8):c.2395+245T>G	noncoding	Benign
6	38786726	A	G	A38786726G	DNAH8	NM_001206927.2(DNAH8):c.2396-39A>G	noncoding	Benign
6	38787008	T	A	T38787008A	DNAH8	NM_001206927.2(DNAH8):c.2583+56T>A	noncoding	Benign
6	38787062	A	C	A38787062C	DNAH8	NM_001206927.2(DNAH8):c.2583+110A>C	noncoding	Benign
6	38787199	C	A	C38787199A	DNAH8	NM_001206927.2(DNAH8):c.2583+247C>A	noncoding	Benign
6	38789499	T	C	T38789499C	DNAH8	NM_001206927.2(DNAH8):c.2584-304T>C	noncoding	Benign
6	38789602	C	T	C38789602T	DNAH8	NM_001206927.2(DNAH8):c.2584-201C>T	noncoding	Benign
6	38789735	A	G	A38789735G	DNAH8	NM_001206927.2(DNAH8):c.2584-68A>G	noncoding	Benign
6	38791603	G	A	G38791603A	DNAH8	NM_001206927.2(DNAH8):c.2830G>A:p.Ala944Thr	coding	Benign
6	38802849	G	T	G38802849T	DNAH8	NM_001206927.2(DNAH8):c.2902-330G>T	noncoding	Benign
6	38802918	A	G	A38802918G	DNAH8	NM_001206927.2(DNAH8):c.2902-261A>G	noncoding	Benign
6	38803196	G	A	G38803196A	DNAH8	NM_001206927.2(DNAH8):c.2919G>A:p.Trp973Ter	coding	Pathogenic
6	38803330	G	A	G38803330A	DNAH8	NM_001206927.2(DNAH8):c.3034+19G>A	noncoding	Benign
6	38803392	T	C	T38803392C	DNAH8	NM_001206927.2(DNAH8):c.3034+81T>C	noncoding	Benign
6	38803495	G	A	G38803495A	DNAH8	NM_001206927.2(DNAH8):c.3034+184G>A	noncoding	Benign
6	38803625	A	G	A38803625G	DNAH8	NM_001206927.2(DNAH8):c.3034+314A>G	noncoding	Benign
6	38805221	T	G	T38805221G	DNAH8	NM_001206927.2(DNAH8):c.3035-260T>G	noncoding	Benign
6	38805370	T	C	T38805370C	DNAH8	NM_001206927.2(DNAH8):c.3035-111T>C	noncoding	Benign
6	38805396	A	G	A38805396G	DNAH8	NM_001206927.2(DNAH8):c.3035-85A>G	noncoding	Benign
6	38805757	A	G	A38805757G	DNAH8	NM_001206927.2(DNAH8):c.3150+161A>G	noncoding	Benign
6	38805933	G	A	G38805933A	DNAH8	NM_001206927.2(DNAH8):c.3150+337G>A	noncoding	Benign
6	38807299	G	C	G38807299C	DNAH8	NM_001206927.2(DNAH8):c.3151-311G>C	noncoding	Benign
6	38807560	T	G	T38807560G	DNAH8	NM_001206927.2(DNAH8):c.3151-50T>G	noncoding	Benign
6	38807898	C	T	C38807898T	DNAH8	NM_001206927.2(DNAH8):c.3257+182C>T	noncoding	Benign
6	38813849	A	T	A38813849T	DNAH8	NM_001206927.2(DNAH8):c.3258-205A>T	noncoding	Benign
6	38813907	T	C	T38813907C	DNAH8	NM_001206927.2(DNAH8):c.3258-147T>C	noncoding	Benign
6	38813973	C	T	C38813973T	DNAH8	NM_001206927.2(DNAH8):c.3258-81C>T	noncoding	Benign
6	38814155	A	T	A38814155T	DNAH8	NM_001206927.2(DNAH8):c.3333+26A>T	noncoding	Benign
6	38814258	T	C	T38814258C	DNAH8	NM_001206927.2(DNAH8):c.3333+129T>C	noncoding	Benign
6	38815350	C	T	C38815350T	DNAH8	NM_001206927.2(DNAH8):c.3334-118C>T	noncoding	Benign
6	38815401	G	A	G38815401A	DNAH8	NM_001206927.2(DNAH8):c.3334-67G>A	noncoding	Benign
6	38815843	C	T	C38815843T	DNAH8	NM_001206927.2(DNAH8):c.3523+186C>T	noncoding	Benign
6	38823315	G	A	G38823315A	DNAH8	NM_001206927.2(DNAH8):c.3721-247G>A	noncoding	Benign
6	38823779	C	T	C38823779T	DNAH8	NM_001206927.2(DNAH8):c.3847+91C>T	noncoding	Benign
6	38823861	A	G	A38823861G	DNAH8	NM_001206927.2(DNAH8):c.3847+173A>G	noncoding	Benign
6	38825811	T	C	T38825811C	DNAH8	NM_001206927.2(DNAH8):c.3848-345T>C	noncoding	Benign
6	38825827	A	G	A38825827G	DNAH8	NM_001206927.2(DNAH8):c.3848-329A>G	noncoding	Benign
6	38826036	C	T	C38826036T	DNAH8	NM_001206927.2(DNAH8):c.3848-120C>T	noncoding	Benign
6	38826039	G	A	G38826039A	DNAH8	NM_001206927.2(DNAH8):c.3848-117G>A	noncoding	Benign
6	38832151	T	C	T38832151C	DNAH8	NM_001206927.2(DNAH8):c.4189-171T>C	noncoding	Benign
6	38832179	A	G	A38832179G	DNAH8	NM_001206927.2(DNAH8):c.4189-143A>G	noncoding	Benign
6	38832388	G	A	G38832388A	DNAH8	NM_001206927.2(DNAH8):c.4255G>A:p.Glu1419Lys	coding	Benign
6	38834565	A	G	A38834565G	DNAH8	NM_001206927.2(DNAH8):c.4303-14A>G	noncoding	Benign
6	38837783	T	C	T38837783C	DNAH8	NM_001206927.2(DNAH8):c.4366-159T>C	noncoding	Benign
6	38842267	G	A	G38842267A	DNAH8	NM_001206927.2(DNAH8):c.4467-101G>A	noncoding	Benign
6	38842537	G	A	G38842537A	DNAH8	NM_001206927.2(DNAH8):c.4604+32G>A	noncoding	Benign
6	38845305	A	G	A38845305G	DNAH8	NM_001206927.2(DNAH8):c.4846-269A>G	noncoding	Benign
6	38845919	G	A	G38845919A	DNAH8	NM_001206927.2(DNAH8):c.5045+146G>A	noncoding	Benign
6	38850302	C	T	C38850302T	DNAH8	NM_001206927.2(DNAH8):c.5251C>T:p.Arg1751Ter	coding	Pathogenic
6	38850582	T	C	T38850582C	DNAH8	NM_001206927.2(DNAH8):c.5363+168T>C	noncoding	Benign
6	38850584	G	A	G38850584A	DNAH8	NM_001206927.2(DNAH8):c.5363+170G>A	noncoding	Benign
6	38851253	A	T	A38851253T	DNAH8	NM_001206927.2(DNAH8):c.5364-319A>T	noncoding	Benign
6	38851320	G	A	G38851320A	DNAH8	NM_001206927.2(DNAH8):c.5364-252G>A	noncoding	Benign
6	38851714	C	T	C38851714T	DNAH8	NM_001206927.2(DNAH8):c.5466+40C>T	noncoding	Benign
6	38852675	G	A	G38852675A	DNAH8	NM_001206927.2(DNAH8):c.5467-19G>A	noncoding	Benign
6	38852823	T	G	T38852823G	DNAH8	NM_001206927.2(DNAH8):c.5571+25T>G	noncoding	Benign
6	38852982	G	A	G38852982A	DNAH8	NM_001206927.2(DNAH8):c.5571+184G>A	noncoding	Benign
6	38853137	A	C	A38853137C	DNAH8	NM_001206927.2(DNAH8):c.5572-49A>C	noncoding	Benign
6	38853167	C	T	C38853167T	DNAH8	NM_001206927.2(DNAH8):c.5572-19C>T	noncoding	Benign
6	38853249	C	T	C38853249T	DNAH8	NM_001206927.2(DNAH8):c.5635C>T:p.Gln1879Ter	coding	Pathogenic
6	38853358	A	G	A38853358G	DNAH8	NM_001206927.2(DNAH8):c.5733+11A>G	noncoding	Benign
6	38853595	A	G	A38853595G	DNAH8	NM_001206927.2(DNAH8):c.5733+248A>G	noncoding	Benign
6	38853642	T	C	T38853642C	DNAH8	NM_001206927.2(DNAH8):c.5733+295T>C	noncoding	Benign
6	38857546	G	A	G38857546A	DNAH8	NM_001206927.2(DNAH8):c.5762G>A:p.Trp1921Ter	coding	Pathogenic
6	38860648	G	A	G38860648A	DNAH8	NM_001206927.2(DNAH8):c.6131+19G>A	noncoding	Benign
6	38860677	A	T	A38860677T	DNAH8	NM_001206927.2(DNAH8):c.6131+48A>T	noncoding	Benign
6	38862099	G	A	G38862099A	DNAH8	NM_001206927.2(DNAH8):c.6132-181G>A	noncoding	Benign
6	38862634	A	G	A38862634G	DNAH8	NM_001206927.2(DNAH8):c.6310+176A>G	noncoding	Benign
6	38862683	G	A	G38862683A	DNAH8	NM_001206927.2(DNAH8):c.6310+225G>A	noncoding	Benign
6	38862753	A	G	A38862753G	DNAH8	NM_001206927.2(DNAH8):c.6310+295A>G	noncoding	Benign
6	38864166	A	G	A38864166G	DNAH8	NM_001206927.2(DNAH8):c.6498+106A>G	noncoding	Benign
6	38866340	T	C	T38866340C	DNAH8	NM_001206927.2(DNAH8):c.6499-251T>C	noncoding	Benign
6	38866399	A	G	A38866399G	DNAH8	NM_001206927.2(DNAH8):c.6499-192A>G	noncoding	Benign
6	38866862	C	T	C38866862T	DNAH8	NM_001206927.2(DNAH8):c.6679C>T:p.Gln2227Ter	coding	Pathogenic
6	38870781	A	C	A38870781C	DNAH8	NM_001206927.2(DNAH8):c.6990+219A>C	noncoding	Benign
6	38872238	C	G	C38872238G	DNAH8	NM_001206927.2(DNAH8):c.6991-298C>G	noncoding	Benign
6	38872377	A	G	A38872377G	DNAH8	NM_001206927.2(DNAH8):c.6991-159A>G	noncoding	Benign
6	38872825	G	A	G38872825A	DNAH8	NM_001206927.2(DNAH8):c.7237+43G>A	noncoding	Benign
6	38875413	T	C	T38875413C	DNAH8	NM_001206927.2(DNAH8):c.7621-178T>C	noncoding	Benign
6	38875503	C	T	C38875503T	DNAH8	NM_001206927.2(DNAH8):c.7621-88C>T	noncoding	Benign
6	38875504	C	T	C38875504T	DNAH8	NM_001206927.2(DNAH8):c.7621-87C>T	noncoding	Benign
6	38875507	C	T	C38875507T	DNAH8	NM_001206927.2(DNAH8):c.7621-84C>T	noncoding	Benign
6	38876092	A	T	A38876092T	DNAH8	NM_001206927.2(DNAH8):c.7858+264A>T	noncoding	Benign
6	38882800	G	A	G38882800A	DNAH8	NM_001206927.2(DNAH8):c.7859-110G>A	noncoding	Benign
6	38883529	C	T	C38883529T	DNAH8	NM_001206927.2(DNAH8):c.8136+73C>T	noncoding	Benign
6	38883532	A	G	A38883532G	DNAH8	NM_001206927.2(DNAH8):c.8136+76A>G	noncoding	Benign
6	38883809	T	A	T38883809A	DNAH8	NM_001206927.2(DNAH8):c.8137-67T>A	noncoding	Benign
6	38884010	A	T	A38884010T	DNAH8	NM_001206927.2(DNAH8):c.8259+12A>T	noncoding	Benign
6	38887022	G	A	G38887022A	DNAH8	NM_001206927.2(DNAH8):c.8473+18G>A	noncoding	Benign
6	38894671	A	T	A38894671T	DNAH8	NM_001206927.2(DNAH8):c.8584-30A>T	noncoding	Benign
6	38896285	C	G	C38896285G	DNAH8	NM_001206927.2(DNAH8):c.8940+60C>G	noncoding	Benign
6	38899984	C	A	C38899984A	DNAH8	NM_001206927.2(DNAH8):c.9194+78C>A	noncoding	Benign
6	38906412	G	T	G38906412T	DNAH8	NM_001206927.2(DNAH8):c.9348+5G>T	noncoding	Benign
6	38906612	T	C	T38906612C	DNAH8	NM_001206927.2(DNAH8):c.9348+205T>C	coding	Benign
6	38907645	A	G	A38907645G	DNAH8	NM_001206927.2(DNAH8):c.9349-311A>G	coding	Benign
6	38907750	G	A	G38907750A	DNAH8	NM_001206927.2(DNAH8):c.9349-206G>A	coding	Benign
6	38907976	A	G	A38907976G	DNAH8	NM_001206927.2(DNAH8):c.9369A>G:p.Arg3123=	coding	Benign
6	38908135	T	G	T38908135G	DNAH8	NM_001206927.2(DNAH8):c.9513+15T>G	noncoding	Benign
6	38909755	T	C	T38909755C	DNAH8	NM_001206927.2(DNAH8):c.9740+11T>C	noncoding	Benign
6	38909829	C	A	C38909829A	DNAH8	NM_001206927.2(DNAH8):c.9740+85C>A	noncoding	Benign
6	38913887	A	T	A38913887T	DNAH8	NM_001206927.2(DNAH8):c.9898A>T:p.Lys3300Ter	coding	Pathogenic
6	38914118	G	A	G38914118A	DNAH8	NM_001206927.2(DNAH8):c.9963+166G>A	noncoding	Benign
6	38915166	T	A	T38915166A	DNAH8	NM_001206927.2(DNAH8):c.9964-35T>A	noncoding	Benign
6	38916942	A	G	A38916942G	DNAH8	NM_001206927.2(DNAH8):c.10141-297A>G	noncoding	Benign
6	38918346	T	C	T38918346C	DNAH8	NM_001206927.2(DNAH8):c.10524+206T>C	noncoding	Benign
6	38923292	T	G	T38923292G	DNAH8	NM_001206927.2(DNAH8):c.10790+107T>G	coding	Benign
6	38923310	A	C	A38923310C	DNAH8	NM_001206927.2(DNAH8):c.10790+125A>C	coding	Benign
6	38923995	G	T	G38923995T	DNAH8	NM_001206927.2(DNAH8):c.10795G>T:p.Val3599Leu	coding	Benign
6	38925956	G	A	G38925956A	DNAH8	NM_001206927.2(DNAH8):c.10963-99G>A	noncoding	Benign
6	38929191	G	A	G38929191A	DNAH8	NM_001206927.2(DNAH8):c.11119-320G>A	noncoding	Benign
6	38929254	T	C	T38929254C	DNAH8	NM_001206927.2(DNAH8):c.11119-257T>C	noncoding	Benign
6	38929272	C	A	C38929272A	DNAH8	NM_001206927.2(DNAH8):c.11119-239C>A	noncoding	Benign
6	38929382	T	G	T38929382G	DNAH8	NM_001206927.2(DNAH8):c.11119-129T>G	noncoding	Benign
6	38929834	G	A	G38929834A	DNAH8	NM_001206927.2(DNAH8):c.11274+168G>A	noncoding	Benign
6	38931555	G	A	G38931555A	DNAH8	NM_001206927.2(DNAH8):c.11275-256G>A	noncoding	Benign
6	38931638	T	C	T38931638C	DNAH8	NM_001206927.2(DNAH8):c.11275-173T>C	noncoding	Benign
6	38931709	G	C	G38931709C	DNAH8	NM_001206927.2(DNAH8):c.11275-102G>C	noncoding	Benign
6	38932011	G	A	G38932011A	DNAH8	NM_001206927.2(DNAH8):c.11457+18G>A	noncoding	Benign
6	38932086	T	A	T38932086A	DNAH8	NM_001206927.2(DNAH8):c.11457+93T>A	noncoding	Benign
6	38935319	G	A	G38935319A	DNAH8	NM_001206927.2(DNAH8):c.11458-273G>A	noncoding	Benign
6	38937721	T	C	T38937721C	DNAH8	NM_001206927.2(DNAH8):c.11564-253T>C	noncoding	Benign
6	38938191	C	A	C38938191A	DNAH8	NM_001206927.2(DNAH8):c.11781C>A:p.Ala3927=	coding	Benign
6	38938296	A	G	A38938296G	DNAH8	NM_001206927.2(DNAH8):c.11816+70A>G	noncoding	Benign
6	38945401	A	G	A38945401G	DNAH8	NM_001206927.2(DNAH8):c.12008-66A>G	noncoding	Benign
6	38945447	T	C	T38945447C	DNAH8	NM_001206927.2(DNAH8):c.12008-20T>C	noncoding	Benign
6	38945874	C	G	C38945874G	DNAH8	NM_001206927.2(DNAH8):c.12129+286C>G	noncoding	Benign
6	38945888	G	A	G38945888A	DNAH8	NM_001206927.2(DNAH8):c.12129+300G>A	noncoding	Benign
6	38971636	C	T	C38971636T	DNAH8	NM_001206927.2(DNAH8):c.12496C>T:p.Arg4166Ter	coding	Pathogenic
6	38973826	A	G	A38973826G	DNAH8	NM_001206927.2(DNAH8):c.12678+13A>G	noncoding	Benign
6	38973835	C	G	C38973835G	DNAH8	NM_001206927.2(DNAH8):c.12678+22C>G	noncoding	Benign
6	38982609	G	A	G38982609A	DNAH8	NM_001206927.2(DNAH8):c.12951+147G>A	noncoding	Benign
6	38982684	G	A	G38982684A	DNAH8	NM_001206927.2(DNAH8):c.12951+222G>A	noncoding	Benign
6	38983999	A	G	A38983999G	DNAH8	NM_001206927.2(DNAH8):c.12952-207A>G	noncoding	Benign
6	38984222	C	T	C38984222T	DNAH8	NM_001206927.2(DNAH8):c.12968C>T:p.Thr4323Met	coding	Benign
6	38984511	G	T	G38984511T	DNAH8	NM_001206927.2(DNAH8):c.13053+204G>T	noncoding	Benign
6	38989946	T	C	T38989946C	DNAH8	NM_001206927.2(DNAH8):c.13054-66T>C	noncoding	Benign
6	38990349	C	T	C38990349T	DNAH8	NM_001206927.2(DNAH8):c.13214+177C>T	noncoding	Benign
6	39008593	T	A	T39008593A	DNAH8	NM_001206927.2(DNAH8):c.13215-221T>A	noncoding	Benign
6	39009073	G	A	G39009073A	DNAH8	NM_001206927.2(DNAH8):c.13371+103G>A	noncoding	Benign
6	39009256	G	A	G39009256A	DNAH8	NM_001206927.2(DNAH8):c.13371+286G>A	noncoding	Benign
6	39012170	T	A	T39012170A	DNAH8	NM_001206927.2(DNAH8):c.13372-45T>A	noncoding	Benign
6	39012200	T	A	T39012200A	DNAH8	NM_001206927.2(DNAH8):c.13372-15T>A	noncoding	Benign
6	39012337	G	T	G39012337T	DNAH8	NM_001206927.2(DNAH8):c.13494G>T:p.Leu4498Phe	coding	Benign
6	39012683	T	C	T39012683C	DNAH8	NM_001206927.2(DNAH8):c.13714+46T>C	noncoding	Benign
6	39012793	T	C	T39012793C	DNAH8	NM_001206927.2(DNAH8):c.13714+156T>C	noncoding	Benign
6	39012860	T	C	T39012860C	DNAH8	NM_001206927.2(DNAH8):c.13714+223T>C	noncoding	Benign
6	39026341	C	T	C39026341T	DNAH8	NM_001206927.2(DNAH8):c.13715-205C>T	noncoding	Benign
6	39026409	G	A	G39026409A	DNAH8	NM_001206927.2(DNAH8):c.13715-137G>A	noncoding	Benign
6	39026792	A	G	A39026792G	DNAH8	NM_001206927.2(DNAH8):c.13836+125A>G	noncoding	Benign
6	39030410	C	G	C39030410G	DNAH8	NM_001206927.2(DNAH8):c.*18C>G	noncoding	Benign
6	39190997	G	T	G39190997T	KCNK5	NM_003740.4(KCNK5):c.1393C>A:p.Pro465Thr	coding	Benign
6	39314260	T	C	T39314260C	KCNK16	NM_031460.4(KCNK17):c.61A>G:p.Ser21Gly	coding	Benign
6	39865007	G	C	G39865007C	DAAM2	NM_001201427.2(DAAM2):c.361G>C:p.Glu121Gln	coding	Pathogenic
6	39871532	G	A	G39871532A	DAAM2	NM_001201427.2(DAAM2):c.1004G>A:p.Arg335Gln	coding	Pathogenic
6	39878234	C	T	C39878234T	DAAM2	NM_001201427.2(DAAM2):c.1333C>T:p.Arg445Ter	coding	Pathogenic
6	39879377	C	A	C39879377A	DAAM2	NM_001201427.2(DAAM2):c.1745C>A:p.Pro582His	coding	Pathogenic
6	39901913	C	T	C39901913T	DAAM2	NM_001201427.2(DAAM2):c.3083C>T:p.Ser1028Leu	coding	Pathogenic
6	39906516	C	T	C39906516T	MOCS1	NM_001358530.2(MOCS1):c.1752G>A:p.Arg584=	noncoding	Benign/Likely_benign
6	39909600	C	T	C39909600T	MOCS1	NM_001358530.2(MOCS1):c.1102+235G>A	noncoding	Benign
6	39912087	C	G	C39912087G	MOCS1	NM_001358530.2(MOCS1):c.981+177G>C	noncoding	Benign
6	39912290	G	A	G39912290A	MOCS1	NM_001358530.2(MOCS1):c.955C>T:p.Arg319Ter	coding	Pathogenic
6	39912873	C	T	C39912873T	MOCS1	NM_001358530.2(MOCS1):c.870+19G>A	noncoding	Benign
6	39913256	A	C	A39913256C	MOCS1	NM_001358530.2(MOCS1):c.757+61T>G	noncoding	Benign
6	39913656	C	T	C39913656T	MOCS1	NM_001358530.2(MOCS1):c.645+118G>A	noncoding	Benign
6	39915917	A	C	A39915917C	MOCS1	NM_001358530.2(MOCS1):c.583+151T>G	noncoding	Benign
6	39916022	T	C	T39916022C	MOCS1	NM_001358530.2(MOCS1):c.583+46A>G	noncoding	Benign
6	39916374	T	C	T39916374C	MOCS1	NM_001358530.2(MOCS1):c.419-142A>G	noncoding	Benign
6	39925466	G	A	G39925466A	MOCS1	NM_001358530.2(MOCS1):c.418+212C>T	noncoding	Benign
6	39925828	C	A	C39925828A	MOCS1	NM_001358530.2(MOCS1):c.268G>T:p.Glu90Ter	coding	Pathogenic
6	39934281	C	T	C39934281T	MOCS1	NM_001358530.2(MOCS1):c.123+14G>A	noncoding	Benign
6	39934322	G	A	G39934322A	MOCS1	NM_001358530.2(MOCS1):c.96C>T:p.Pro32=	coding	Benign/Likely_benign
6	39934444	C	A	C39934444A	MOCS1	NM_001358530.2(MOCS1):c.-27G>T	noncoding	Benign
6	39934712	G	C	G39934712C	MOCS1	Single_allele	noncoding	Benign
6	39934750	G	A	G39934750A	MOCS1	Single_allele	noncoding	Benign
6	41158716	T	A	T41158716A	TREM2	NM_018965.4(TREM2):c.*48A>T	coding	Benign/Likely_benign
6	41158955	C	T	C41158955T	TREM2	NM_018965.4(TREM2):c.594G>A:p.Trp198Ter	coding	Pathogenic
6	41159790	A	G	A41159790G	TREM2	NM_018965.4(TREM2):c.482+2T>C	noncoding	Pathogenic/Likely_pathogenic
6	41161656	G	A	G41161656A	TREM2	NM_018965.4(TREM2):c.41-43C>T	noncoding	Benign
6	41162955	A	G	A41162955G	TREM2	NM_018965.4(TREM2):c.40+88T>C	noncoding	Benign
6	41565835	G	A	G41565835A	FOXP4	NM_001012426.2(FOXP4):c.75G>A:p.Gly25=	coding	Benign
6	41565841	C	A	C41565841A	FOXP4	NM_001012426.2(FOXP4):c.81C>A:p.Ala27=	coding	Benign
6	41594873	G	A	G41594873A	FOXP4	NM_001012426.2(FOXP4):c.1540G>A:p.Ala514Thr	coding	Pathogenic/Likely_pathogenic
6	41957421	G	A	G41957421A	CCND3	NM_001136017.3(CCND3):c.-45-16836C>T	noncoding	Benign
6	42050590	A	G	A42050590G	TAF8	NM_138572.3(TAF8):c.45+4A>G	noncoding	Pathogenic
6	42057513	G	A	G42057513A	TAF8	NM_138572.3(TAF8):c.489G>A:p.Pro163_Thr164=	coding	Pathogenic
6	42173661	C	T	C42173661T	GUCA1A	NM_001384910.1(GUCA1A):c.48C>T:p.Thr16=	coding	Benign
6	42178264	C	T	C42178264T	GUCA1A	NM_001384910.1(GUCA1A):c.202-16C>T	noncoding	Benign
6	42178265	G	C	G42178265C	GUCA1A	NM_001384910.1(GUCA1A):c.202-15G>C	noncoding	Benign
6	42178276	C	A	C42178276A	GUCA1A	NM_001384910.1(GUCA1A):c.202-4C>A	noncoding	Benign
6	42178328	C	T	C42178328T	GUCA1A;LOC118142757	NM_001384910.1(GUCA1A):c.250C>T:p.Leu84Phe	coding	Pathogenic/Likely_pathogenic
6	42178390	C	G	C42178390G	GUCA1A	NM_001384910.1(GUCA1A):c.312C>G:p.Asn104Lys	coding	Pathogenic
6	42178410	A	T	A42178410T	GUCA1A;LOC118142757	NM_001384910.1(GUCA1A):c.332A>T:p.Glu111Val	coding	Pathogenic/Likely_pathogenic
6	42178846	A	C	A42178846C	GUCA1A	NM_001384910.1(GUCA1A):c.396A>C:p.Ala132=	coding	Benign
6	42178914	G	C	G42178914C	GUCA1A	NM_001384910.1(GUCA1A):c.445+19G>C	noncoding	Benign
6	42179147	G	A	G42179147A	GUCA1A	NM_001384910.1(GUCA1A):c.446-96G>A	noncoding	Benign
6	42179225	C	A	C42179225A	GUCA1A	NM_001384910.1(GUCA1A):c.446-18C>A	noncoding	Benign
6	42179397	C	T	C42179397T	GUCA1A	NM_001384910.1(GUCA1A):c.600C>T:p.Ala200=	coding	Benign/Likely_benign
6	42617284	G	A	G42617284A	UBR2	NM_001363705.2(UBR2):c.1183-125G>A	coding	Benign
6	42696925	T	A	T42696925A	PRPH2	NM_000322.5(PRPH2):c.*1370A>T	noncoding	Benign
6	42698481	G	T	G42698481T	PRPH2	NM_000322.5(PRPH2):c.855C>A:p.Tyr285Ter	coding	Pathogenic
6	42698627	G	C	G42698627C	PRPH2	NM_000322.5(PRPH2):c.829-120C>G	noncoding	Benign
6	42698737	T	C	T42698737C	PRPH2	NM_000322.5(PRPH2):c.829-230A>G	noncoding	Benign
6	42698768	C	A	C42698768A	PRPH2	NM_000322.5(PRPH2):c.829-261G>T	noncoding	Benign
6	42704121	A	T	A42704121T	PRPH2	NM_000322.5(PRPH2):c.828+244T>A	noncoding	Benign
6	42704363	A	G	A42704363G	PRPH2	NM_000322.5(PRPH2):c.828+2T>C	noncoding	Pathogenic/Likely_pathogenic
6	42704391	C	T	C42704391T	PRPH2	NM_000322.5(PRPH2):c.802G>A:p.Val268Ile	coding	Pathogenic
6	42704432	A	T	A42704432T	PRPH2	NM_000322.5(PRPH2):c.761T>A:p.Leu254Gln	coding	Pathogenic/Likely_pathogenic
6	42704443	G	T	G42704443T	PRPH2	NM_000322.5(PRPH2):c.750C>A:p.Cys250Ter	coding	Pathogenic
6	42704463	T	G	T42704463G	PRPH2	NM_000322.5(PRPH2):c.730A>C:p.Asn244His	coding	Pathogenic
6	42704472	C	A	C42704472A	PRPH2	NM_000322.5(PRPH2):c.721G>T:p.Glu241Ter	coding	Pathogenic
6	42704491	G	T	G42704491T	PRPH2	NM_000322.5(PRPH2):c.702C>A:p.Tyr234Ter	coding	Pathogenic
6	42704501	G	C	G42704501C	PRPH2	NM_000322.5(PRPH2):c.692C>G:p.Ser231Ter	coding	Pathogenic/Likely_pathogenic
6	42704517	G	A	G42704517A	PRPH2	NM_000322.5(PRPH2):c.676C>T:p.Gln226Ter	coding	Pathogenic/Likely_pathogenic
6	42704528	C	G	C42704528G	PRPH2	NM_000322.5(PRPH2):c.665G>C:p.Cys222Ser	coding	Pathogenic/Likely_pathogenic
6	42704531	G	A	G42704531A	PRPH2	NM_000322.5(PRPH2):c.662C>T:p.Pro221Leu	coding	Pathogenic
6	42704534	C	G	C42704534G	PRPH2	NM_000322.5(PRPH2):c.659G>C:p.Arg220Pro	coding	Pathogenic/Likely_pathogenic
6	42704534	C	T	C42704534T	PRPH2	NM_000322.5(PRPH2):c.659G>A:p.Arg220Gln	coding	Pathogenic/Likely_pathogenic
6	42704550	T	G	T42704550G	PRPH2	NM_000322.5(PRPH2):c.643A>C:p.Asn215His	coding	Pathogenic
6	42704551	G	T	G42704551T	PRPH2	NM_000322.5(PRPH2):c.642C>A:p.Cys214Ter	coding	Pathogenic/Likely_pathogenic
6	42704552	C	G	C42704552G	PRPH2	NM_000322.5(PRPH2):c.641G>C:p.Cys214Ser	coding	Pathogenic
6	42704554	G	C	G42704554C	PRPH2	NM_000322.5(PRPH2):c.639C>G:p.Cys213Trp	coding	Pathogenic
6	42704560	G	C	G42704560C	PRPH2	NM_000322.5(PRPH2):c.633C>G:p.Phe211Leu	coding	Pathogenic
6	42704560	G	T	G42704560T	PRPH2	NM_000322.5(PRPH2):c.633C>A:p.Phe211Leu	coding	Pathogenic
6	42704565	G	A	G42704565A	PRPH2	NM_000322.5(PRPH2):c.628C>T:p.Pro210Ser	coding	Pathogenic/Likely_pathogenic
6	42704568	C	A	C42704568A	PRPH2	NM_000322.5(PRPH2):c.625G>T:p.Val209Phe	coding	Pathogenic/Likely_pathogenic
6	42704588	C	T	C42704588T	PRPH2	NM_000322.5(PRPH2):c.605G>A:p.Gly202Glu	coding	Pathogenic/Likely_pathogenic
6	42704594	A	C	A42704594C	PRPH2	NM_000322.5(PRPH2):c.599T>G:p.Val200Gly	coding	Pathogenic
6	42704599	G	C	G42704599C	PRPH2	NM_000322.5(PRPH2):c.594C>G:p.Ser198Arg	coding	Pathogenic/Likely_pathogenic
6	42704601	T	G	T42704601G	PRPH2	NM_000322.5(PRPH2):c.592A>C:p.Ser198Arg	coding	Pathogenic
6	42704610	G	A	G42704610A	PRPH2	NM_000322.5(PRPH2):c.583C>T:p.Arg195Ter	coding	Pathogenic/Likely_pathogenic
6	42704613	T	A	T42704613A	PRPH2	NM_000322.5(PRPH2):c.582-2A>T	noncoding	Pathogenic
6	42704669	T	C	T42704669C	PRPH2	NM_000322.5(PRPH2):c.582-58A>G	noncoding	Benign
6	42704678	A	T	A42704678T	PRPH2	NM_000322.5(PRPH2):c.582-67T>A	noncoding	Benign
6	42704696	C	T	C42704696T	PRPH2	NM_000322.5(PRPH2):c.582-85G>A	noncoding	Benign
6	42704836	G	A	G42704836A	PRPH2	NM_000322.5(PRPH2):c.582-225C>T	noncoding	Benign
6	42721673	G	A	G42721673A	PRPH2	NM_000322.5(PRPH2):c.581+81C>T	noncoding	Benign
6	42721753	C	G	C42721753G	PRPH2	NM_000322.5(PRPH2):c.581+1G>C	noncoding	Pathogenic
6	42721753	C	T	C42721753T	PRPH2	NM_000322.5(PRPH2):c.581+1G>A	noncoding	Pathogenic/Likely_pathogenic
6	42721764	C	A	C42721764A	PRPH2	NM_000322.5(PRPH2):c.571G>T:p.Glu191Ter	coding	Pathogenic
6	42721779	C	T	C42721779T	PRPH2	NM_000322.5(PRPH2):c.556G>A:p.Asp186Asn	coding	Pathogenic
6	42721798	C	A	C42721798A	PRPH2	NM_000322.5(PRPH2):c.537G>T:p.Trp179Cys	coding	Pathogenic/Likely_pathogenic
6	42721798	C	T	C42721798T	PRPH2	NM_000322.5(PRPH2):c.537G>A:p.Trp179Ter	coding	Pathogenic
6	42721813	C	T	C42721813T	PRPH2	NM_000322.5(PRPH2):c.522G>A:p.Trp174Ter	coding	Pathogenic
6	42721819	C	A	C42721819A	PRPH2	NM_000322.5(PRPH2):c.516G>T:p.Arg172=	coding	Pathogenic
6	42721841	C	T	C42721841T	PRPH2	NM_000322.5(PRPH2):c.494G>A:p.Cys165Tyr	coding	Pathogenic
6	42721842	A	G	A42721842G	PRPH2	NM_000322.5(PRPH2):c.493T>C:p.Cys165Arg	coding	Pathogenic
6	42721871	G	C	G42721871C	PRPH2	NM_000322.5(PRPH2):c.464C>G:p.Thr155Ser	coding	Benign
6	42721877	T	C	T42721877C	PRPH2	NM_000322.5(PRPH2):c.458A>G:p.Lys153Arg	coding	Pathogenic
6	42721912	G	T	G42721912T	PRPH2	NM_000322.5(PRPH2):c.423C>A:p.Tyr141Ter	coding	Pathogenic
6	42721914	A	G	A42721914G	PRPH2	NM_000322.5(PRPH2):c.421T>C:p.Tyr141His	coding	Pathogenic
6	42721925	C	T	C42721925T	PRPH2	NM_000322.5(PRPH2):c.410G>A:p.Gly137Asp	coding	Pathogenic/Likely_pathogenic
6	42721958	A	G	A42721958G	PRPH2	NM_000322.5(PRPH2):c.377T>C:p.Leu126Pro	coding	Pathogenic
6	42722054	C	T	C42722054T	PRPH2	NM_000322.5(PRPH2):c.281G>A:p.Trp94Ter	coding	Pathogenic
6	42722089	G	T	G42722089T	PRPH2	NM_000322.5(PRPH2):c.246C>A:p.Cys82Ter	coding	Pathogenic/Likely_pathogenic
6	42722133	C	T	C42722133T	PRPH2	NM_000322.5(PRPH2):c.202G>A:p.Gly68Arg	coding	Pathogenic
6	42722272	C	T	C42722272T	PRPH2	NM_000322.5(PRPH2):c.63G>A:p.Trp21Ter	coding	Pathogenic
6	42722273	C	T	C42722273T	PRPH2	NM_000322.5(PRPH2):c.62G>A:p.Trp21Ter	coding	Pathogenic
6	42722334	T	A	T42722334A	PRPH2	NM_000322.5(PRPH2):c.1A>T:p.Met1Leu	coding	Pathogenic
6	42722776	G	A	G42722776A	PRPH2	Single_allele	noncoding	Benign
6	42722950	A	C	A42722950C	PRPH2	Single_allele	noncoding	Benign
6	42960723	C	T	C42960723T	GNMT	NM_001318856.2(CNPY3-GNMT):c.9-1489C>T	noncoding	Benign
6	42960779	C	T	C42960779T	GNMT	NM_018960.6(GNMT):c.12C>T:p.Ser4=	coding	Benign
6	42961014	G	A	G42961014A	GNMT	NM_018960.6(GNMT):c.206+41G>A	noncoding	Benign
6	42961020	T	G	T42961020G	GNMT	NM_018960.6(GNMT):c.206+47T>G	noncoding	Benign
6	42962101	G	A	G42962101A	GNMT	NM_018960.6(GNMT):c.207-111G>A	noncoding	Benign
6	42962324	G	A	G42962324A	GNMT	NM_018960.6(GNMT):c.319G>A:p.Ala107Thr	coding	Benign
6	42962571	A	G	A42962571G	GNMT	NM_018960.6(GNMT):c.335-191A>G	noncoding	Benign
6	42962721	A	G	A42962721G	GNMT	NM_018960.6(GNMT):c.335-41A>G	noncoding	Benign
6	42963308	G	A	G42963308A	GNMT	NM_018960.6(GNMT):c.595-20G>A	noncoding	Benign
6	42963477	C	T	C42963477T	GNMT	NM_018960.6(GNMT):c.716+28C>T	noncoding	Benign
6	42963486	G	A	G42963486A	GNMT	NM_018960.6(GNMT):c.716+37G>A	noncoding	Benign
6	42963523	C	G	C42963523G	GNMT	NM_018960.6(GNMT):c.717-12C>G	noncoding	Benign
6	42964776	G	A	G42964776A	PEX6	NM_000287.4(PEX6):c.2806+14C>T	noncoding	Benign
6	42964861	G	A	G42964861A	PEX6	NM_000287.4(PEX6):c.2735C>T:p.Ala912Val	coding	Pathogenic/Likely_pathogenic
6	42964874	G	A	G42964874A	PEX6	NM_000287.4(PEX6):c.2722C>T:p.Gln908Ter	coding	Pathogenic
6	42964977	C	T	C42964977T	PEX6	NM_000287.4(PEX6):c.2667-48G>A	noncoding	Benign
6	42966525	C	T	C42966525T	PEX6	NM_000287.4(PEX6):c.2094G>A:p.Lys698_Ile699=	coding	Pathogenic
6	42967258	G	A	G42967258A	PEX6	NM_000287.4(PEX6):c.1884+110C>T	noncoding	Benign
6	42967454	G	A	G42967454A	PEX6	NM_000287.4(PEX6):c.1798C>T:p.Gln600Ter	coding	Pathogenic
6	42967478	C	A	C42967478A	PEX6	NM_000287.4(PEX6):c.1774G>T:p.Glu592Ter	coding	Pathogenic
6	42968621	G	C	G42968621C	PEX6	NM_000287.4(PEX6):c.1480-123C>G	noncoding	Benign
6	42968764	G	A	G42968764A	PEX6	NM_000287.4(PEX6):c.1479+110C>T	noncoding	Benign
6	42968863	G	A	G42968863A	PEX6	NM_000287.4(PEX6):c.1479+11C>T	noncoding	Benign
6	42969162	C	T	C42969162T	PEX6	NM_000287.4(PEX6):c.1368-177G>A	noncoding	Benign
6	42969388	C	T	C42969388T	PEX6	NM_000287.4(PEX6):c.1367+280G>A	noncoding	Benign
6	42969962	T	A	T42969962A	PEX6	NM_000287.4(PEX6):c.1156A>T:p.Lys386Ter	coding	Pathogenic
6	42973895	A	G	A42973895G	PEX6	NM_000287.4(PEX6):c.1130+108T>C	noncoding	Benign
6	42973897	G	A	G42973897A	PEX6	NM_000287.4(PEX6):c.1130+106C>T	noncoding	Benign
6	42974043	G	A	G42974043A	PEX6	NM_000287.4(PEX6):c.1090C>T:p.Gln364Ter	coding	Pathogenic
6	42975268	G	A	G42975268A	PEX6	NM_000287.4(PEX6):c.883-230C>T	noncoding	Benign
6	42978404	C	T	C42978404T	PEX6	NM_000287.4(PEX6):c.747G>A:p.Trp249Ter	coding	Pathogenic
6	42978424	G	A	G42978424A	PEX6	NM_000287.4(PEX6):c.727C>T:p.Gln243Ter	coding	Pathogenic
6	42978445	G	A	G42978445A	PEX6	NM_000287.4(PEX6):c.706C>T:p.Gln236Ter	coding	Pathogenic
6	42979149	A	G	A42979149G	PEX6	NM_000287.4(PEX6):c.2T>C:p.Met1Thr	coding	Pathogenic
6	42979275	G	C	G42979275C	PEX6	Single_allele	noncoding	Benign
6	42979453	A	G	A42979453G	PEX6	Single_allele	noncoding	Benign
6	42984260	G	C	G42984260C	PPP2R5D	Single_allele	noncoding	Benign
6	42984641	G	T	G42984641T	PPP2R5D	NM_006245.4(PPP2R5D):c.-37G>T	noncoding	Benign
6	42984646	G	T	G42984646T	PPP2R5D	NM_006245.4(PPP2R5D):c.-32G>T	noncoding	Benign
6	42984721	T	C	T42984721C	PPP2R5D	NM_006245.4(PPP2R5D):c.27+17T>C	noncoding	Benign
6	42989576	C	T	C42989576T	PPP2R5D	NM_006245.4(PPP2R5D):c.28-35C>T	noncoding	Benign
6	43006729	C	T	C43006729T	PPP2R5D	NM_006245.4(PPP2R5D):c.322+50C>T	noncoding	Benign
6	43006730	G	A	G43006730A	PPP2R5D	NM_006245.4(PPP2R5D):c.322+51G>A	noncoding	Benign
6	43006771	A	G	A43006771G	PPP2R5D	NM_006245.4(PPP2R5D):c.322+92A>G	noncoding	Benign
6	43006907	A	G	A43006907G	PPP2R5D	NM_006245.4(PPP2R5D):c.323-4A>G	noncoding	Benign/Likely_benign
6	43007022	A	T	A43007022T	PPP2R5D	NM_006245.4(PPP2R5D):c.434A>T:p.Lys145Met	coding	Pathogenic
6	43007098	G	A	G43007098A	PPP2R5D	NM_006245.4(PPP2R5D):c.510G>A:p.Glu170=	coding	Benign
6	43007104	C	T	C43007104T	PPP2R5D	NM_006245.4(PPP2R5D):c.516C>T:p.Val172=	coding	Benign/Likely_benign
6	43007132	A	G	A43007132G	PPP2R5D	NM_006245.4(PPP2R5D):c.522+22A>G	noncoding	Benign
6	43007161	G	C	G43007161C	PPP2R5D	NM_006245.4(PPP2R5D):c.523-35G>C	noncoding	Benign
6	43007293	G	C	G43007293C	PPP2R5D	NM_006245.4(PPP2R5D):c.620G>C:p.Trp207Ser	coding	Pathogenic
6	43007333	C	T	C43007333T	PPP2R5D	NM_006245.4(PPP2R5D):c.633+27C>T	noncoding	Benign
6	43007724	C	T	C43007724T	PPP2R5D	NM_006245.4(PPP2R5D):c.727-211C>T	noncoding	Benign
6	43007906	T	C	T43007906C	PPP2R5D	NM_006245.4(PPP2R5D):c.727-29T>C	noncoding	Benign
6	43007956	G	A	G43007956A	PPP2R5D	NM_006245.4(PPP2R5D):c.748G>A:p.Glu250Lys	coding	Pathogenic/Likely_pathogenic
6	43007959	G	T	G43007959T	PPP2R5D	NM_006245.4(PPP2R5D):c.751G>T:p.Asp251Tyr	coding	Pathogenic/Likely_pathogenic
6	43007965	C	G	C43007965G	PPP2R5D	NM_006245.4(PPP2R5D):c.757C>G:p.Arg253Gly	coding	Pathogenic
6	43008075	G	A	G43008075A	PPP2R5D	NM_006245.4(PPP2R5D):c.857+10G>A	noncoding	Benign
6	43008161	A	C	A43008161C	PPP2R5D	NM_006245.4(PPP2R5D):c.858-40A>C	noncoding	Benign
6	43008448	C	G	C43008448G	PPP2R5D	NM_006245.4(PPP2R5D):c.999C>G:p.Val333=	coding	Benign
6	43008494	T	G	T43008494G	PPP2R5D	NM_006245.4(PPP2R5D):c.1026+19T>G	noncoding	Benign
6	43008814	T	C	T43008814C	PPP2R5D	NM_006245.4(PPP2R5D):c.1080+68T>C	noncoding	Benign
6	43009535	A	C	A43009535C	PPP2R5D	NM_006245.4(PPP2R5D):c.1379+86A>C	noncoding	Benign
6	43010588	G	A	G43010588A	PPP2R5D	NM_006245.4(PPP2R5D):c.1481+19G>A	noncoding	Benign
6	43010884	C	T	C43010884T	PPP2R5D	NM_006245.4(PPP2R5D):c.1558C>T:p.Pro520Ser	coding	Benign/Likely_benign
6	43010940	C	T	C43010940T	PPP2R5D	NM_006245.4(PPP2R5D):c.1614C>T:p.Thr538=	coding	Benign
6	43011126	A	G	A43011126G	PPP2R5D	NM_006245.4(PPP2R5D):c.1672-23A>G	noncoding	Benign
6	43011250	G	A	G43011250A	PPP2R5D	NM_006245.4(PPP2R5D):c.1773G>A:p.Ala591=	coding	Benign/Likely_benign
6	43011307	G	C	G43011307C	PPP2R5D	NM_006245.4(PPP2R5D):c.*21G>C	noncoding	Benign
6	43038266	C	T	C43038266T	CUL7	NM_014780.5(CUL7):c.4773+1G>A	noncoding	Pathogenic
6	43038281	G	A	G43038281A	CUL7	NM_014780.5(CUL7):c.4759C>T:p.Gln1587Ter	coding	Pathogenic
6	43038309	G	A	G43038309A	CUL7	NM_014780.5(CUL7):c.4731C>T:p.Ala1577=	coding	Benign
6	43038458	G	A	G43038458A	CUL7	NM_014780.5(CUL7):c.4582C>T:p.Arg1528Ter	coding	Pathogenic
6	43038985	G	A	G43038985A	CUL7	NM_014780.5(CUL7):c.4297C>T:p.Gln1433Ter	coding	Pathogenic
6	43039161	G	T	G43039161T	CUL7	NM_014780.5(CUL7):c.4295-174C>A	noncoding	Benign
6	43039244	T	C	T43039244C	CUL7	NM_014780.5(CUL7):c.4295-257A>G	noncoding	Benign
6	43039899	C	T	C43039899T	CUL7	NM_014780.5(CUL7):c.4294+257G>A	noncoding	Benign
6	43040616	C	A	C43040616A	CUL7	NM_014780.5(CUL7):c.3937G>T:p.Glu1313Ter	coding	Pathogenic
6	43040646	G	A	G43040646A	CUL7	NM_014780.5(CUL7):c.3907C>T:p.Gln1303Ter	coding	Pathogenic
6	43040649	G	A	G43040649A	CUL7	NM_014780.5(CUL7):c.3904C>T:p.Gln1302Ter	coding	Pathogenic
6	43041138	A	G	A43041138G	CUL7	NM_014780.5(CUL7):c.3646-63T>C	noncoding	Benign
6	43043156	C	T	C43043156T	CUL7	NM_014780.5(CUL7):c.3380G>A:p.Trp1127Ter	coding	Pathogenic
6	43044541	G	C	G43044541C	CUL7	NM_014780.5(CUL7):c.3172+211C>G	noncoding	Benign
6	43044795	C	T	C43044795T	CUL7	NM_014780.5(CUL7):c.3129G>A:p.Trp1043Ter	coding	Pathogenic
6	43045118	C	T	C43045118T	CUL7	NM_014780.5(CUL7):c.3038+109G>A	noncoding	Benign
6	43045924	T	C	T43045924C	CUL7	NM_014780.5(CUL7):c.2766+62A>G	noncoding	Benign
6	43046439	G	A	G43046439A	CUL7	NM_014780.5(CUL7):c.2489-32C>T	noncoding	Benign
6	43046495	G	A	G43046495A	CUL7	NM_014780.5(CUL7):c.2488+16C>T	noncoding	Benign
6	43046571	G	A	G43046571A	CUL7	NM_014780.5(CUL7):c.2428C>T:p.Arg810Ter	coding	Pathogenic
6	43046970	A	G	A43046970G	CUL7	NM_014780.5(CUL7):c.2307T>C:p.Ala769=	coding	Benign
6	43047968	G	A	G43047968A	CUL7	NM_014780.5(CUL7):c.2169+180C>T	noncoding	Benign
6	43048243	G	A	G43048243A	CUL7	NM_014780.5(CUL7):c.2074C>T:p.Gln692Ter	coding	Pathogenic
6	43048254	C	T	C43048254T	CUL7	NM_014780.5(CUL7):c.2064-1G>A	coding	Pathogenic
6	43050004	G	A	G43050004A	CUL7	NM_014780.5(CUL7):c.1528C>T:p.Gln510Ter	coding	Pathogenic
6	43050048	C	T	C43050048T	CUL7	NM_014780.5(CUL7):c.1484G>A:p.Trp495Ter	coding	Pathogenic
6	43051057	G	A	G43051057A	CUL7	NM_014780.5(CUL7):c.1144C>T:p.Arg382Ter	coding	Pathogenic
6	43051416	G	T	G43051416T	CUL7	NM_014780.5(CUL7):c.785C>A:p.Ser262Ter	coding	Pathogenic
6	43051665	G	A	G43051665A	CUL7	NM_014780.5(CUL7):c.679C>T:p.Gln227Ter	coding	Pathogenic
6	43051928	C	T	C43051928T	CUL7	NM_014780.5(CUL7):c.581-165G>A	noncoding	Benign
6	43263232	G	C	G43263232C	TTBK1	NM_032538.3(TTBK1):c.1868G>C:p.Gly623Ala	coding	Benign
6	43284174	A	G	A43284174G	TTBK1	NM_032538.3(TTBK1):c.3434A>G:p.Lys1145Arg	coding	Benign
6	43284291	T	C	T43284291C	TTBK1	NM_032538.3(TTBK1):c.3551T>C:p.Leu1184Ser	coding	Benign
6	43517545	C	T	C43517545T	POLR1C	NM_203290.4(POLR1C):c.141+168C>T	noncoding	Benign
6	43519423	C	T	C43519423T	POLR1C	NM_203290.4(POLR1C):c.232C>T:p.Arg78Ter	coding	Pathogenic
6	43519625	A	C	A43519625C	POLR1C	NM_203290.4(POLR1C):c.250-81A>C	noncoding	Benign
6	43520083	G	T	G43520083T	POLR1C	NM_203290.4(POLR1C):c.400G>T:p.Glu134Ter	coding	Pathogenic
6	43521064	T	C	T43521064C	POLR1C	NM_203290.4(POLR1C):c.922+16T>C	noncoding	Benign
6	43523597	T	C	T43523597C	XPO5	NM_020750.3(XPO5):c.*271A>G	noncoding	Benign
6	43523703	C	T	C43523703T	XPO5	NM_020750.3(XPO5):c.*165G>A	noncoding	Benign
6	43524840	G	A	G43524840A	XPO5	NM_020750.3(XPO5):c.3303C>T:p.Tyr1101_Glu1102=	coding	Benign
6	43526412	C	T	C43526412T	XPO5	NM_020750.3(XPO5):c.2983+273G>A	noncoding	Benign
6	43526478	A	G	A43526478G	XPO5	NM_020750.3(XPO5):c.2983+207T>C	noncoding	Benign
6	43527906	C	G	C43527906G	XPO5	NM_020750.3(XPO5):c.2823-175G>C	noncoding	Benign
6	43528666	T	C	T43528666C	XPO5	NM_020750.3(XPO5):c.2775+162A>G	noncoding	Benign
6	43528924	A	C	A43528924C	XPO5	NM_020750.3(XPO5):c.2679T>G:p.Arg893_Val894=	coding	Benign
6	43530643	A	G	A43530643G	XPO5	NM_020750.3(XPO5):c.2677+45T>C	noncoding	Benign
6	43530935	G	A	G43530935A	XPO5	NM_020750.3(XPO5):c.2541-111C>T	noncoding	Benign
6	43531277	T	C	T43531277C	XPO5	NM_020750.3(XPO5):c.2540+202A>G	noncoding	Benign
6	43531525	C	T	C43531525T	XPO5	NM_020750.3(XPO5):c.2494G>A:p.Val832Ile	coding	Benign
6	43531807	T	C	T43531807C	XPO5	NM_020750.3(XPO5):c.2444-232A>G	noncoding	Benign
6	43534096	T	C	T43534096C	XPO5	NM_020750.3(XPO5):c.2343-89A>G	noncoding	Benign
6	43534114	C	T	C43534114T	XPO5	NM_020750.3(XPO5):c.2343-107G>A	noncoding	Benign
6	43546309	T	C	T43546309C	XPO5	NM_020750.3(XPO5):c.2342+262A>G	noncoding	Benign
6	43548020	T	C	T43548020C	XPO5	NM_020750.3(XPO5):c.2060+241A>G	noncoding	Benign
6	43548235	G	A	G43548235A	XPO5	NM_020750.3(XPO5):c.2060+26C>T	noncoding	Benign
6	43548491	T	C	T43548491C	XPO5	NM_020750.3(XPO5):c.1861-31A>G	noncoding	Benign
6	43549789	C	T	C43549789T	XPO5	NM_020750.3(XPO5):c.1770+104G>A	noncoding	Benign
6	43551120	G	C	G43551120C	XPO5	NM_020750.3(XPO5):c.1728+178C>G	noncoding	Benign
6	43551437	T	C	T43551437C	XPO5	NM_020750.3(XPO5):c.1589A>G:p.Asp530Gly	coding	Benign/Likely_benign
6	43555852	A	G	A43555852G	XPO5	NM_020750.3(XPO5):c.1425T>C:p.Asp475_Ala476=	coding	Benign
6	43558292	G	A	G43558292A	XPO5	NM_020750.3(XPO5):c.1312+209C>T	noncoding	Benign
6	43558430	T	C	T43558430C	XPO5	NM_020750.3(XPO5):c.1312+71A>G	noncoding	Benign
6	43558616	T	G	T43558616G	XPO5	NM_020750.3(XPO5):c.1222-25A>C	noncoding	Benign
6	43558856	A	C	A43558856C	XPO5	NM_020750.3(XPO5):c.1222-265T>G	noncoding	Benign
6	43560452	C	T	C43560452T	XPO5	NM_020750.3(XPO5):c.1096-149G>A	noncoding	Benign
6	43560704	C	T	C43560704T	XPO5	NM_020750.3(XPO5):c.1095+220G>A	noncoding	Benign
6	43560910	T	G	T43560910G	XPO5	NM_020750.3(XPO5):c.1095+14A>C	noncoding	Benign
6	43565668	G	A	G43565668A	XPO5	NM_020750.3(XPO5):c.903C>T:p.Ser301_Ala302=	coding	Benign
6	43567132	G	A	G43567132A	XPO5	NM_020750.3(XPO5):c.834+37C>T	noncoding	Benign
6	43567281	C	T	C43567281T	XPO5	NM_020750.3(XPO5):c.722G>A:p.Ser241Asn	coding	Benign
6	43567536	A	G	A43567536G	XPO5	NM_020750.3(XPO5):c.649-182T>C	noncoding	Benign
6	43568664	C	T	C43568664T	XPO5	NM_020750.3(XPO5):c.648+47G>A	noncoding	Benign
6	43568885	C	T	C43568885T	XPO5	NM_020750.3(XPO5):c.622-148G>A	noncoding	Benign
6	43569002	C	T	C43569002T	XPO5	NM_020750.3(XPO5):c.622-265G>A	noncoding	Benign
6	43570471	T	C	T43570471C	XPO5	NM_020750.3(XPO5):c.621+31A>G	noncoding	Benign
6	43570841	T	C	T43570841C	XPO5	NM_020750.3(XPO5):c.438+16A>G	noncoding	Benign
6	43572789	A	G	A43572789G	XPO5	NM_020750.3(XPO5):c.228-211T>C	noncoding	Benign
6	43572793	G	A	G43572793A	XPO5	NM_020750.3(XPO5):c.228-215C>T	noncoding	Benign
6	43572840	G	T	G43572840T	XPO5	NM_020750.3(XPO5):c.228-262C>A	noncoding	Benign
6	43573189	G	A	G43573189A	XPO5	NM_020750.3(XPO5):c.227+291C>T	noncoding	Benign
6	43575541	G	A	G43575541A	XPO5	NM_020750.3(XPO5):c.105+219C>T	noncoding	Benign
6	43575935	C	T	C43575935T	XPO5	NM_020750.3(XPO5):c.-71G>A	noncoding	Benign
6	43582821	G	A	G43582821A	POLH	NM_006502.3(POLH):c.138-186G>A	noncoding	Benign
6	43587097	T	C	T43587097C	POLH	NM_006502.3(POLH):c.273-175T>C	noncoding	Benign
6	43587240	T	C	T43587240C	POLH	NM_006502.3(POLH):c.273-32T>C	noncoding	Benign
6	43597518	G	A	G43597518A	POLH	NM_006502.3(POLH):c.491-178G>A	noncoding	Benign
6	43597843	C	G	C43597843G	POLH	NM_006502.3(POLH):c.638C>G:p.Ser213Ter	coding	Pathogenic/Likely_pathogenic
6	43600652	T	C	T43600652C	POLH	NM_006502.3(POLH):c.661-336T>C	noncoding	Benign
6	43601243	C	T	C43601243T	POLH	NM_006502.3(POLH):c.764+152C>T	noncoding	Benign
6	43603644	C	T	C43603644T	POLH	NM_006502.3(POLH):c.765-248C>T	noncoding	Benign
6	43603668	T	C	T43603668C	POLH	NM_006502.3(POLH):c.765-224T>C	noncoding	Benign
6	43603818	A	G	A43603818G	POLH	NM_006502.3(POLH):c.765-74A>G	noncoding	Benign
6	43603854	G	A	G43603854A	POLH	NM_006502.3(POLH):c.765-38G>A	noncoding	Benign
6	43604032	A	T	A43604032T	POLH	NM_006502.3(POLH):c.884+21A>T	noncoding	Benign
6	43604408	A	G	A43604408G	POLH	NM_006502.3(POLH):c.885-207A>G	noncoding	Benign
6	43604620	G	A	G43604620A	POLH	NM_006502.3(POLH):c.890G>A:p.Trp297Ter	coding	Pathogenic
6	43605311	C	T	C43605311T	POLH	NM_006502.3(POLH):c.1066C>T:p.Arg356Ter	coding	Pathogenic
6	43613388	G	A	G43613388A	POLH	NM_006502.3(POLH):c.1245-272G>A	noncoding	Benign
6	43622077	G	A	G43622077A	GTPBP2	NM_019096.5(GTPBP2):c.1558C>T:p.Arg520Ter	coding	Pathogenic
6	43622181	G	A	G43622181A	GTPBP2	NM_019096.5(GTPBP2):c.1468-14C>T	noncoding	Benign
6	43622671	G	A	G43622671A	GTPBP2	NM_019096.5(GTPBP2):c.1429C>T:p.Leu477=	coding	Benign
6	43622696	C	T	C43622696T	GTPBP2	NM_019096.5(GTPBP2):c.1404G>A:p.Val468_Leu469=	coding	Benign
6	43623714	G	A	G43623714A	GTPBP2	NM_019096.5(GTPBP2):c.1295+23C>T	noncoding	Benign
6	43625413	G	A	G43625413A	GTPBP2	NM_019096.5(GTPBP2):c.655C>T:p.Arg219Ter	coding	Pathogenic
6	43625552	G	A	G43625552A	GTPBP2	NM_019096.5(GTPBP2):c.516C>T:p.Asp172_Leu173=	coding	Benign
6	43626020	T	C	T43626020C	GTPBP2	NM_019096.5(GTPBP2):c.399-156A>G	noncoding	Benign
6	43626163	C	A	C43626163A	GTPBP2	NM_019096.5(GTPBP2):c.398+63G>T	noncoding	Benign
6	43626722	A	G	A43626722G	GTPBP2	NM_019096.5(GTPBP2):c.213+200T>C	noncoding	Benign
6	43629077	C	G	C43629077G	GTPBP2	NM_019096.5(GTPBP2):c.86G>C:p.Gly29Ala	coding	Benign
6	43629167	C	T	C43629167T	GTPBP2	NM_019096.5(GTPBP2):c.-5G>A	noncoding	Benign
6	43645099	A	G	A43645099G	RSPH9	NM_152732.5(RSPH9):c.1A>G:p.Met1Val	coding	Pathogenic
6	43645100	T	C	T43645100C	RSPH9	NM_152732.5(RSPH9):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
6	43645367	C	T	C43645367T	RSPH9	NM_152732.5(RSPH9):c.227+42C>T	noncoding	Benign
6	43645443	G	A	G43645443A	RSPH9	NM_152732.5(RSPH9):c.227+118G>A	noncoding	Benign
6	43650258	A	G	A43650258G	RSPH9	NM_152732.5(RSPH9):c.228-117A>G	noncoding	Benign
6	43650273	C	T	C43650273T	RSPH9	NM_152732.5(RSPH9):c.228-102C>T	noncoding	Benign
6	43650289	C	T	C43650289T	RSPH9	NM_152732.5(RSPH9):c.228-86C>T	noncoding	Benign
6	43650520	G	C	G43650520C	RSPH9	NM_152732.5(RSPH9):c.373G>C:p.Val125Leu	coding	Benign/Likely_benign
6	43655365	C	T	C43655365T	RSPH9	NM_152732.5(RSPH9):c.394-197C>T	noncoding	Benign
6	43655377	C	T	C43655377T	RSPH9	NM_152732.5(RSPH9):c.394-185C>T	noncoding	Benign
6	43655405	A	C	A43655405C	RSPH9	NM_152732.5(RSPH9):c.394-157A>C	noncoding	Benign
6	43655992	C	G	C43655992G	RSPH9	NM_152732.5(RSPH9):c.523+301C>G	noncoding	Benign
6	43666637	C	T	C43666637T	RSPH9	NM_152732.5(RSPH9):c.671-4152C>T	noncoding	Benign
6	43670748	C	A	C43670748A	RSPH9	NM_152732.5(RSPH9):c.671-41C>A	noncoding	Benign
6	43770057	A	G	A43770057G	VEGFA	NM_001318876.2(POLR1C):c.945+240786A>G	noncoding	Benign
6	43770093	A	G	A43770093G	VEGFA	NM_001318876.2(POLR1C):c.945+240822A>G	noncoding	Benign
6	43770613	C	G	C43770613G	VEGFA	NM_003376.6(VEGFA):c.-94C>G	noncoding	Benign
6	43774682	G	C	G43774682C	VEGFA	NM_003376.6(VEGFA):c.658+290G>C	noncoding	Benign
6	43777370	G	A	G43777370A	VEGFA	NM_003376.6(VEGFA):c.659-99G>A	noncoding	Benign
6	43777840	C	T	C43777840T	VEGFA	NM_003376.6(VEGFA):c.855+175C>T	noncoding	Benign
6	43778432	C	T	C43778432T	VEGFA	NM_003376.6(VEGFA):c.856-28C>T	noncoding	Benign
6	43780906	T	C	T43780906C	VEGFA	NM_003376.6(VEGFA):c.1034+103T>C	noncoding	Benign
6	44151939	A	G	A44151939G	TMEM63B	NM_018426.3(TMEM63B):c.1767A>G:p.Pro589_Gly590=	coding	Benign
6	44217607	C	T	C44217607T	MYMX	NM_001315494.2(MYMX):c.136C>T:p.Arg46Ter	coding	Pathogenic
6	44300398	C	T	C44300398T	AARS2	NM_020745.4(AARS2):c.*149G>A	noncoding	Benign
6	44300553	C	G	C44300553G	AARS2	NM_020745.4(AARS2):c.2952G>C:p.Gln984His	coding	Benign/Likely_benign
6	44301286	T	C	T44301286C	AARS2	NM_020745.4(AARS2):c.2683-20A>G	noncoding	Benign
6	44301943	C	G	C44301943G	AARS2	NM_020745.4(AARS2):c.2598+117G>C	noncoding	Benign
6	44302390	C	G	C44302390G	AARS2	NM_020745.4(AARS2):c.2487+1G>C	noncoding	Pathogenic
6	44302462	G	A	G44302462A	AARS2	NM_020745.4(AARS2):c.2416C>T:p.Arg806Trp	coding	Benign
6	44302628	C	G	C44302628G	AARS2	NM_020745.4(AARS2):c.2365-115G>C	noncoding	Benign
6	44303031	G	T	G44303031T	AARS2	NM_020745.4(AARS2):c.2255+35C>A	noncoding	Benign
6	44303065	C	T	C44303065T	AARS2	NM_020745.4(AARS2):c.2255+1G>A	noncoding	Pathogenic
6	44303199	C	T	C44303199T	AARS2	NM_020745.4(AARS2):c.2146-24G>A	noncoding	Benign
6	44304180	C	G	C44304180G	AARS2;POLR1C	NM_020745.4(AARS2):c.2007+1G>C	noncoding	Pathogenic
6	44304587	C	A	C44304587A	AARS2	NM_020745.4(AARS2):c.1753-54G>T	noncoding	Benign
6	44304788	G	A	G44304788A	AARS2	NM_020745.4(AARS2):c.1609C>T:p.Gln537Ter	coding	Pathogenic
6	44305046	G	T	G44305046T	AARS2	NM_020745.4(AARS2):c.1579+8C>A	noncoding	Benign
6	44305809	A	C	A44305809C	AARS2	NM_020745.4(AARS2):c.1301-23T>G	noncoding	Benign
6	44306990	G	A	G44306990A	AARS2	NM_020745.4(AARS2):c.1082C>T:p.Ser361Phe	coding	Pathogenic
6	44307032	C	T	C44307032T	AARS2	NM_020745.4(AARS2):c.1041-1G>A	coding	Pathogenic
6	44307060	T	C	T44307060C	AARS2	NM_020745.4(AARS2):c.1041-29A>G	noncoding	Benign
6	44307274	T	C	T44307274C	AARS2	NM_020745.4(AARS2):c.1015A>G:p.Ile339Val	coding	Benign
6	44307325	G	A	G44307325A	AARS2	NM_020745.4(AARS2):c.964C>T:p.Arg322Cys	coding	Pathogenic
6	44307326	G	T	G44307326T	AARS2	NM_020745.4(AARS2):c.963C>A:p.Tyr321Ter	coding	Pathogenic
6	44307458	G	T	G44307458T	AARS2	NM_020745.4(AARS2):c.895-64C>A	noncoding	Benign
6	44310348	G	C	G44310348C	AARS2	NM_020745.4(AARS2):c.845C>G:p.Ser282Cys	coding	Pathogenic
6	44310855	A	G	A44310855G	AARS2	NM_020745.4(AARS2):c.749+139T>C	noncoding	Benign
6	44311374	A	G	A44311374G	AARS2	NM_020745.4(AARS2):c.581+16T>C	noncoding	Benign
6	44311393	A	C	A44311393C	AARS2	NM_020745.4(AARS2):c.578T>G:p.Leu193Ter	coding	Pathogenic
6	44311572	C	T	C44311572T	AARS2	NM_020745.4(AARS2):c.436-37G>A	noncoding	Benign
6	44312230	G	A	G44312230A	AARS2	NM_020745.4(AARS2):c.277C>T:p.Arg93Ter	coding	Pathogenic
6	44387491	A	C	A44387491C	CDC5L	NM_001318876.2(POLR1C):c.946-54399A>C	noncoding	Benign
6	44387662	G	T	G44387662T	CDC5L	NM_001253.3(CDC5L):c.-162G>T	noncoding	Benign
6	44387686	C	T	C44387686T	CDC5L	NM_001253.3(CDC5L):c.-138C>T	noncoding	Benign
6	44387945	G	A	G44387945A	CDC5L	NM_001253.4(CDC5L):c.45+77G>A	noncoding	Benign
6	44387962	T	C	T44387962C	CDC5L	NM_001253.4(CDC5L):c.45+94T>C	noncoding	Benign
6	44390147	T	G	T44390147G	CDC5L	NM_001253.4(CDC5L):c.46-121T>G	noncoding	Benign
6	44390707	T	G	T44390707G	CDC5L	NM_001253.4(CDC5L):c.149+336T>G	noncoding	Benign
6	44392418	T	A	T44392418A	CDC5L	NM_001253.4(CDC5L):c.150-249T>A	noncoding	Benign
6	44392796	G	A	G44392796A	CDC5L	NM_001253.4(CDC5L):c.279G>A:p.Ala93_Ala94=	coding	Benign
6	44392943	A	G	A44392943G	CDC5L	NM_001253.4(CDC5L):c.311+115A>G	noncoding	Benign
6	44403977	C	T	C44403977T	CDC5L	NM_001253.4(CDC5L):c.708C>T:p.Asp236_Ala237=	coding	Benign
6	44408182	T	C	T44408182C	CDC5L	NM_001253.4(CDC5L):c.904-262T>C	noncoding	Benign
6	44419780	C	G	C44419780G	CDC5L	NM_001253.4(CDC5L):c.1241+183C>G	noncoding	Benign
6	44423027	G	T	G44423027T	CDC5L	NM_001253.4(CDC5L):c.1404+218G>T	noncoding	Benign
6	44424777	G	A	G44424777A	CDC5L	NM_001253.4(CDC5L):c.1569+194G>A	noncoding	Benign
6	44425898	G	A	G44425898A	CDC5L	NM_001253.4(CDC5L):c.1570-205G>A	noncoding	Benign
6	44429544	G	C	G44429544C	CDC5L	NM_001253.4(CDC5L):c.1894-169G>C	noncoding	Benign
6	44430145	T	C	T44430145C	CDC5L	NM_001253.4(CDC5L):c.2091+235T>C	noncoding	Benign
6	44445726	T	A	T44445726A	CDC5L	NM_001253.4(CDC5L):c.2163T>A:p.Leu721_Gly722=	coding	Benign
6	44445999	A	G	A44445999G	CDC5L	NM_001253.4(CDC5L):c.2304+132A>G	noncoding	Benign
6	45328881	T	C	T45328881C	RUNX2	NM_001024630.4(RUNX2):c.58+97T>C	noncoding	Benign
6	45421552	T	C	T45421552C	RUNX2	NM_001024630.4(RUNX2):c.59-1041T>C	noncoding	Benign
6	45421921	T	A	T45421921A	RUNX2	NM_001024630.4(RUNX2):c.59-672T>A	noncoding	Benign
6	45422718	C	T	C45422718T	RUNX2	NM_001024630.4(RUNX2):c.184C>T:p.Gln62Ter	coding	Pathogenic
6	45422870	A	G	A45422870G	RUNX2	NM_001024630.4(RUNX2):c.336A>G:p.Glu112=	coding	Benign
6	45422894	C	A	C45422894A	RUNX2	NM_001024630.4(RUNX2):c.360C>A:p.Asn120Lys	coding	Pathogenic
6	45422941	T	C	T45422941C	RUNX2	NM_001024630.4(RUNX2):c.407T>C:p.Leu136Pro	coding	Pathogenic
6	45422959	T	G	T45422959G	RUNX2	NM_001024630.4(RUNX2):c.423+2T>G	noncoding	Pathogenic
6	45422974	C	T	C45422974T	RUNX2	NM_001024630.4(RUNX2):c.423+17C>T	noncoding	Benign
6	45423212	G	C	G45423212C	RUNX2	NM_001024630.4(RUNX2):c.423+255G>C	noncoding	Benign
6	45423225	C	T	C45423225T	RUNX2	NM_001024630.4(RUNX2):c.423+268C>T	noncoding	Benign
6	45431862	G	C	G45431862C	RUNX2	NM_001024630.4(RUNX2):c.424-1G>C	noncoding	Pathogenic
6	45431978	C	A	C45431978A	RUNX2	NM_001024630.4(RUNX2):c.539C>A:p.Ala180Glu	coding	Pathogenic
6	45432007	C	T	C45432007T	RUNX2	NM_001024630.4(RUNX2):c.568C>T:p.Arg190Trp	coding	Pathogenic
6	45432031	A	G	A45432031G	RUNX2	NM_001024630.4(RUNX2):c.580+12A>G	noncoding	Benign
6	45437853	A	T	A45437853T	RUNX2	NM_001024630.4(RUNX2):c.581-94A>T	noncoding	Benign
6	45437946	G	A	G45437946A	RUNX2	NM_001024630.4(RUNX2):c.581-1G>A	noncoding	Pathogenic
6	45438018	A	G	A45438018G	RUNX2	NM_001024630.4(RUNX2):c.652A>G:p.Lys218Glu	coding	Pathogenic
6	45438025	C	T	C45438025T	RUNX2	NM_001024630.4(RUNX2):c.659C>T:p.Thr220Ile	coding	Pathogenic
6	45491677	C	T	C45491677T	RUNX2	NM_001024630.4(RUNX2):c.686-264C>T	noncoding	Benign
6	45512020	T	G	T45512020G	RUNX2	NM_001024630.4(RUNX2):c.860-226T>G	noncoding	Benign
6	45512254	C	T	C45512254T	RUNX2	NM_001024630.4(RUNX2):c.868C>T:p.Gln290Ter	coding	Pathogenic
6	45512287	C	T	C45512287T	RUNX2	NM_001024630.4(RUNX2):c.901C>T:p.Gln301Ter	coding	Pathogenic
6	45512420	C	A	C45512420A	RUNX2	NM_001024630.4(RUNX2):c.1021+13C>A	noncoding	Benign
6	45512453	G	A	G45512453A	RUNX2	NM_001024630.4(RUNX2):c.1021+46G>A	noncoding	Benign
6	45544918	G	C	G45544918C	RUNX2	NM_001024630.4(RUNX2):c.1022-299G>C	noncoding	Benign
6	45545276	C	T	C45545276T	RUNX2	NM_001024630.4(RUNX2):c.1081C>T:p.Gln361Ter	coding	Pathogenic
6	45545299	T	C	T45545299C	RUNX2	NM_001024630.4(RUNX2):c.1087+17T>C	noncoding	Benign/Likely_benign
6	45546905	A	G	A45546905G	RUNX2	NM_001024630.4(RUNX2):c.1166A>G:p.Asn389Ser	coding	Benign
6	45547123	G	T	G45547123T	RUNX2	NM_001024630.4(RUNX2):c.1384G>T:p.Gly462Ter	coding	Pathogenic
6	45912574	T	C	T45912574C	CLIC5	NM_016929.5(CLIC5):c.588+1654A>G	coding	Benign
6	45914308	C	G	C45914308G	CLIC5	NM_016929.5(CLIC5):c.508G>C:p.Gly170Arg	coding	Benign/Likely_benign
6	45914325	G	C	G45914325C	CLIC5	NM_016929.5(CLIC5):c.491C>G:p.Thr164Ser	coding	Benign/Likely_benign
6	45914339	C	A	C45914339A	CLIC5	NM_016929.5(CLIC5):c.477G>T:p.Glu159Asp	coding	Benign/Likely_benign
6	45914391	G	A	G45914391A	CLIC5	NM_016929.5(CLIC5):c.425C>T:p.Thr142Ile	coding	Benign/Likely_benign
6	45941673	G	A	G45941673A	CLIC5	NM_016929.5(CLIC5):c.300-20C>T	noncoding	Benign
6	45955059	G	A	G45955059A	CLIC5	NM_016929.5(CLIC5):c.173+76C>T	noncoding	Benign
6	45955112	C	T	C45955112T	CLIC5	NM_016929.5(CLIC5):c.173+23G>A	noncoding	Benign
6	45955235	C	T	C45955235T	CLIC5	NM_016929.5(CLIC5):c.73G>A:p.Asp25Asn	coding	Benign
6	45955389	A	C	A45955389C	CLIC5	NM_016929.5(CLIC5):c.64-145T>G	noncoding	Benign
6	46015239	A	G	A46015239G	CLIC5	NM_016929.5(CLIC5):c.63+241T>C	noncoding	Benign
6	46015339	G	C	G46015339C	CLIC5	NM_016929.5(CLIC5):c.63+141C>G	noncoding	Benign
6	46015829	C	A	C46015829A	CLIC5	NM_016929.5(CLIC5):c.-287G>T	coding	Benign
6	46015946	C	G	C46015946G	CLIC5	NM_001114086.2(CLIC5):c.541-60702G>C	noncoding	Benign
6	46079397	C	T	C46079397T	CLIC5	NM_001114086.2(CLIC5):c.540+306G>A	noncoding	Benign
6	46079403	T	C	T46079403C	CLIC5	NM_001114086.2(CLIC5):c.540+300A>G	noncoding	Benign
6	46079412	T	C	T46079412C	CLIC5	NM_001114086.2(CLIC5):c.540+291A>G	noncoding	Benign
6	46079532	T	C	T46079532C	CLIC5	NM_001114086.2(CLIC5):c.540+171A>G	noncoding	Benign
6	46079880	T	C	T46079880C	CLIC5	NM_001114086.2(CLIC5):c.363A>G:p.Ala121_Ala122=	coding	Benign/Likely_benign
6	46080006	T	A	T46080006A	CLIC5	NM_001114086.2(CLIC5):c.237A>T:p.Arg79Ser	coding	Benign/Likely_benign
6	46080126	G	A	G46080126A	CLIC5	NM_001114086.2(CLIC5):c.117C>T:p.Tyr39_Leu40=	coding	Benign
6	46080383	G	T	G46080383T	CLIC5	NM_001370649.1(CLIC5):c.-55+49121C>A	noncoding	Benign
6	46080504	G	T	G46080504T	CLIC5	NM_001370649.1(CLIC5):c.-55+49000C>A	noncoding	Benign
6	46705206	A	G	A46705206G	PLA2G7	NM_005084.4(PLA2G7):c.1136T>C:p.Val379Ala	coding	Benign
6	46709361	C	A	C46709361A	PLA2G7	NM_005084.4(PLA2G7):c.835G>T:p.Val279Phe	coding	Benign
6	47478264	G	A	G47478264A	CD2AP	NM_012120.3(CD2AP):c.4+16G>A	noncoding	Benign/Likely_benign
6	47478510	T	G	T47478510G	CD2AP	NM_012120.3(CD2AP):c.4+262T>G	noncoding	Benign
6	47533686	C	T	C47533686T	CD2AP	NM_012120.3(CD2AP):c.250C>T:p.Arg84Ter	coding	Pathogenic
6	47544493	C	T	C47544493T	CD2AP	NM_012120.3(CD2AP):c.320-113C>T	noncoding	Benign
6	47544854	C	T	C47544854T	CD2AP	NM_012120.3(CD2AP):c.420+148C>T	noncoding	Benign
6	47554621	G	A	G47554621A	CD2AP	NM_012120.3(CD2AP):c.421-25G>A	noncoding	Benign
6	47554672	C	T	C47554672T	CD2AP	NM_012120.3(CD2AP):c.447C>T:p.Thr149=	coding	Benign
6	47574158	A	T	A47574158T	CD2AP	NM_012120.3(CD2AP):c.636A>T:p.Arg212=	coding	Benign
6	47577322	C	T	C47577322T	CD2AP	NM_012120.3(CD2AP):c.903+219C>T	noncoding	Benign
6	47580587	T	C	T47580587C	CD2AP	NM_012120.3(CD2AP):c.1009-277T>C	noncoding	Benign
6	47580936	C	A	C47580936A	CD2AP	NM_012120.3(CD2AP):c.1045+36C>A	noncoding	Benign
6	47581209	G	T	G47581209T	CD2AP	NM_012120.3(CD2AP):c.1045+309G>T	noncoding	Benign
6	47581759	C	T	C47581759T	CD2AP	NM_012120.3(CD2AP):c.1046-244C>T	noncoding	Benign
6	47581850	A	T	A47581850T	CD2AP	NM_012120.3(CD2AP):c.1046-153A>T	noncoding	Benign
6	47581893	A	G	A47581893G	CD2AP	NM_012120.3(CD2AP):c.1046-110A>G	noncoding	Benign
6	47582147	T	C	T47582147C	CD2AP	NM_012120.3(CD2AP):c.1108+82T>C	noncoding	Benign
6	47599462	C	T	C47599462T	CD2AP	NM_012120.3(CD2AP):c.1417+19C>T	noncoding	Benign/Likely_benign
6	47599702	C	G	C47599702G	CD2AP	NM_012120.3(CD2AP):c.1417+259C>G	noncoding	Benign
6	47605943	C	T	C47605943T	CD2AP	NM_012120.3(CD2AP):c.1418-222C>T	noncoding	Benign
6	47606297	G	A	G47606297A	CD2AP	NM_012120.3(CD2AP):c.1530+20G>A	noncoding	Benign/Likely_benign
6	47606496	T	A	T47606496A	CD2AP	NM_012120.3(CD2AP):c.1530+219T>A	noncoding	Benign
6	47607596	T	C	T47607596C	CD2AP	NM_012120.3(CD2AP):c.1531-331T>C	noncoding	Benign
6	47607661	G	A	G47607661A	CD2AP	NM_012120.3(CD2AP):c.1531-266G>A	noncoding	Benign
6	47607894	A	G	A47607894G	CD2AP	NM_012120.3(CD2AP):c.1531-33A>G	noncoding	Benign
6	47609163	C	T	C47609163T	CD2AP	NM_012120.3(CD2AP):c.1673C>T:p.Ala558Val	coding	Benign/Likely_benign
6	47609328	G	A	G47609328A	CD2AP	NM_012120.3(CD2AP):c.1814+24G>A	noncoding	Benign
6	47609535	A	G	A47609535G	CD2AP	NM_012120.3(CD2AP):c.1814+231A>G	noncoding	Benign
6	47624120	T	C	T47624120C	CD2AP	NM_012120.3(CD2AP):c.1879-66T>C	noncoding	Benign
6	49435458	G	A	G49435458A	MMUT	NM_000255.4(MMUT):c.2122C>T:p.Gln708Ter	coding	Pathogenic
6	49440189	C	G	C49440189G	MMUT	NM_000255.4(MMUT):c.1956+17G>C	noncoding	Benign
6	49440238	C	G	C49440238G	MMUT	NM_000255.4(MMUT):c.1924G>C:p.Gly642Arg	coding	Pathogenic/Likely_pathogenic
6	49440291	T	C	T49440291C	MMUT	NM_000255.4(MMUT):c.1871A>G:p.Gln624Arg	coding	Pathogenic
6	49440316	G	A	G49440316A	MMUT	NM_000255.4(MMUT):c.1846C>T:p.Arg616Cys	coding	Pathogenic/Likely_pathogenic
6	49440318	G	A	G49440318A	MMUT	NM_000255.4(MMUT):c.1844C>T:p.Pro615Leu	coding	Pathogenic
6	49440319	G	T	G49440319T	MMUT	NM_000255.4(MMUT):c.1843C>A:p.Pro615Thr	coding	Pathogenic
6	49441774	G	C	G49441774C	MMUT	NM_000255.4(MMUT):c.1808+66C>G	noncoding	Benign
6	49441840	C	T	C49441840T	MMUT	NM_000255.4(MMUT):c.1808G>A:p.Arg603Lys	coding	Pathogenic
6	49441958	C	A	C49441958A	MMUT	NM_000255.4(MMUT):c.1690G>T:p.Glu564Ter	coding	Pathogenic
6	49442024	T	C	T49442024C	MMUT	NM_000255.4(MMUT):c.1677-53A>G	noncoding	Benign
6	49444721	G	C	G49444721C	MMUT	NM_000255.4(MMUT):c.1594C>G:p.Arg532Gly	coding	Benign
6	49448803	C	T	C49448803T	MMUT	NM_000255.4(MMUT):c.1444+13G>A	noncoding	Benign
6	49448918	C	A	C49448918A	MMUT	NM_000255.4(MMUT):c.1342G>T:p.Glu448Ter	coding	Pathogenic
6	49448945	A	C	A49448945C	MMUT	NM_000255.4(MMUT):c.1333-18T>G	noncoding	Benign/Likely_benign
6	49449205	T	C	T49449205C	MMUT	NM_000255.4(MMUT):c.1333-278A>G	noncoding	Benign
6	49451503	T	G	T49451503G	MMUT	NM_000255.4(MMUT):c.1295A>C:p.Glu432Ala	coding	Pathogenic
6	49451522	C	T	C49451522T	MMUT	NM_000255.4(MMUT):c.1276G>A:p.Gly426Arg	coding	Pathogenic/Likely_pathogenic
6	49451524	C	T	C49451524T	MMUT	NM_000255.4(MMUT):c.1274G>A:p.Trp425Ter	coding	Pathogenic
6	49451555	C	A	C49451555A	MMUT	NM_000255.4(MMUT):c.1243G>T:p.Glu415Ter	coding	Pathogenic
6	49451558	C	A	C49451558A	MMUT	NM_000255.4(MMUT):c.1240G>T:p.Glu414Ter	coding	Pathogenic
6	49451639	T	G	T49451639G	MMUT	NM_000255.4(MMUT):c.1159A>C:p.Thr387Pro	coding	Pathogenic
6	49451724	T	C	T49451724C	MMUT	NM_000255.4(MMUT):c.1084-10A>G	noncoding	Pathogenic
6	49451909	T	C	T49451909C	MMUT	NM_000255.4(MMUT):c.1084-195A>G	noncoding	Benign
6	49453528	G	A	G49453528A	MMUT	NM_000255.4(MMUT):c.1083+57C>T	noncoding	Benign
6	49453565	A	G	A49453565G	MMUT	NM_000255.4(MMUT):c.1083+20T>C	noncoding	Benign
6	49453598	G	C	G49453598C	MMUT	NM_000255.4(MMUT):c.1070C>G:p.Ser357Ter	coding	Pathogenic
6	49453685	A	G	A49453685G	MMUT	NM_000255.4(MMUT):c.983T>C:p.Leu328Pro	coding	Pathogenic/Likely_pathogenic
6	49453692	T	A	T49453692A	MMUT	NM_000255.4(MMUT):c.976A>T:p.Arg326Ter	coding	Pathogenic
6	49453692	T	C	T49453692C	MMUT	NM_000255.4(MMUT):c.976A>G:p.Arg326Gly	coding	Pathogenic/Likely_pathogenic
6	49453754	A	G	A49453754G	MMUT	NM_000255.4(MMUT):c.914T>C:p.Leu305Ser	coding	Pathogenic/Likely_pathogenic
6	49453866	G	A	G49453866A	MMUT	NM_000255.4(MMUT):c.912-110C>T	noncoding	Benign
6	49453894	G	A	G49453894A	MMUT	NM_000255.4(MMUT):c.912-138C>T	noncoding	Benign
6	49456129	A	G	A49456129G	MMUT	NM_000255.4(MMUT):c.862T>C:p.Ser288Pro	coding	Pathogenic
6	49456238	C	G	C49456238G	MMUT	NM_000255.4(MMUT):c.754-1G>C	coding	Pathogenic
6	49456239	T	C	T49456239C	MMUT	NM_000255.4(MMUT):c.754-2A>G	noncoding	Pathogenic/Likely_pathogenic
6	49457690	C	T	C49457690T	MMUT	NM_000255.4(MMUT):c.753+1G>A	noncoding	Pathogenic/Likely_pathogenic
6	49457693	T	A	T49457693A	MMUT	NM_000255.4(MMUT):c.751A>T:p.Lys251Ter	coding	Pathogenic/Likely_pathogenic
6	49457863	G	A	G49457863A	MMUT	NM_000255.4(MMUT):c.581C>T:p.Pro194Leu	coding	Pathogenic
6	49457963	C	T	C49457963T	MMUT	NM_000255.4(MMUT):c.481G>A:p.Gly161Arg	coding	Pathogenic
6	49458006	A	T	A49458006T	MMUT	NM_000255.4(MMUT):c.438T>A:p.Tyr146Ter	coding	Pathogenic
6	49458038	C	A	C49458038A	MMUT	NM_000255.4(MMUT):c.406G>T:p.Val136Phe	coding	Pathogenic
6	49459077	C	T	C49459077T	MMUT	NM_000255.4(MMUT):c.385+5G>A	noncoding	Pathogenic/Likely_pathogenic
6	49459080	A	G	A49459080G	MMUT	NM_000255.4(MMUT):c.385+2T>C	noncoding	Pathogenic/Likely_pathogenic
6	49606928	C	T	C49606928T	RHAG	NM_000324.3(RHAG):c.1139-7G>A	noncoding	Benign
6	49611163	A	G	A49611163G	RHAG	NM_000324.3(RHAG):c.946-18T>C	noncoding	Benign
6	49611245	A	G	A49611245G	RHAG	NM_000324.3(RHAG):c.946-100T>C	noncoding	Benign
6	49611316	G	A	G49611316A	RHAG	NM_000324.3(RHAG):c.946-171C>T	noncoding	Benign
6	49612481	C	T	C49612481T	RHAG	NM_000324.3(RHAG):c.861G>A:p.Ala287=	coding	Benign
6	49612770	T	C	T49612770C	RHAG	NM_000324.3(RHAG):c.808-236A>G	noncoding	Benign
6	49612834	T	C	T49612834C	RHAG	NM_000324.3(RHAG):c.808-300A>G	noncoding	Benign
6	49612845	A	G	A49612845G	RHAG	NM_000324.3(RHAG):c.808-311T>C	noncoding	Benign
6	49614575	C	T	C49614575T	RHAG	NM_000324.3(RHAG):c.807+112G>A	noncoding	Benign
6	49614904	C	T	C49614904T	RHAG	NM_000324.3(RHAG):c.641-51G>A	noncoding	Benign
6	49618052	A	G	A49618052G	RHAG	NM_000324.3(RHAG):c.492+16T>C	noncoding	Benign
6	49618089	G	T	G49618089T	RHAG	NM_000324.3(RHAG):c.471C>A:p.Tyr157Ter	coding	Pathogenic
6	49618919	C	G	C49618919G	RHAG	NM_000324.3(RHAG):c.341+260G>C	noncoding	Benign
6	49619514	T	C	T49619514C	RHAG	NM_000324.3(RHAG):c.158-152A>G	noncoding	Benign
6	49619629	A	G	A49619629G	RHAG	NM_000324.3(RHAG):c.158-267T>C	noncoding	Benign
6	49619660	A	C	A49619660C	RHAG	NM_000324.3(RHAG):c.158-298T>G	noncoding	Benign
6	50818858	G	A	G50818858A	TFAP2B	NM_003221.3(TFAP2B):c.-34G>A	noncoding	Benign
6	50823879	A	G	A50823879G	TFAP2B	NM_003221.4(TFAP2B):c.540+14A>G	noncoding	Benign
6	50823927	G	C	G50823927C	TFAP2B	NM_003221.4(TFAP2B):c.540+62G>C	noncoding	Benign
6	50828921	A	G	A50828921G	TFAP2B	NM_003221.4(TFAP2B):c.601+242A>G	noncoding	Benign
6	50838229	T	G	T50838229G	TFAP2B	NM_003221.4(TFAP2B):c.940+136T>G	noncoding	Benign
6	50842784	T	C	T50842784C	TFAP2B	NM_003221.4(TFAP2B):c.1083-308T>C	noncoding	Benign
6	50843528	T	A	T50843528A	TFAP2B	NM_003221.4(TFAP2B):c.*136T>A	noncoding	Benign
6	50843570	C	T	C50843570T	TFAP2B	NM_003221.4(TFAP2B):c.*178C>T	noncoding	Benign
6	50844302	A	C	A50844302C	TFAP2B	NM_003221.4(TFAP2B):c.*910A>C	noncoding	Benign
6	51619707	C	T	C51619707T	PKHD1	NM_138694.4(PKHD1):c.11786-187G>A	noncoding	Benign
6	51626758	C	G	C51626758G	PKHD1	NM_138694.4(PKHD1):c.11785+239G>C	noncoding	Benign
6	51627248	T	G	T51627248G	PKHD1	NM_138694.4(PKHD1):c.11666-132A>C	noncoding	Benign
6	51627335	A	G	A51627335G	PKHD1	NM_138694.4(PKHD1):c.11666-219T>C	noncoding	Benign
6	51627366	T	A	T51627366A	PKHD1	NM_138694.4(PKHD1):c.11666-250A>T	noncoding	Benign
6	51627371	A	G	A51627371G	PKHD1	NM_138694.4(PKHD1):c.11666-255T>C	noncoding	Benign
6	51627435	A	C	A51627435C	PKHD1	NM_138694.4(PKHD1):c.11666-319T>G	noncoding	Benign
6	51632287	T	C	T51632287C	PKHD1	NM_138694.4(PKHD1):c.11665+278A>G	noncoding	Benign
6	51632348	T	A	T51632348A	PKHD1	NM_138694.4(PKHD1):c.11665+217A>T	noncoding	Benign
6	51632619	A	G	A51632619G	PKHD1	NM_138694.4(PKHD1):c.11611T>C:p.Trp3871Arg	coding	Pathogenic/Likely_pathogenic
6	51632664	T	A	T51632664A	PKHD1	NM_138694.4(PKHD1):c.11566A>T:p.Lys3856Ter	coding	Pathogenic
6	51632706	G	A	G51632706A	PKHD1	NM_138694.4(PKHD1):c.11524C>T:p.Arg3842Ter	coding	Pathogenic/Likely_pathogenic
6	51638590	T	C	T51638590C	PKHD1	NM_138694.4(PKHD1):c.11506+259A>G	noncoding	Benign
6	51638624	G	A	G51638624A	PKHD1	NM_138694.4(PKHD1):c.11506+225C>T	noncoding	Benign
6	51638745	C	T	C51638745T	PKHD1	NM_138694.4(PKHD1):c.11506+104G>A	noncoding	Benign
6	51638773	C	T	C51638773T	PKHD1	NM_138694.4(PKHD1):c.11506+76G>A	noncoding	Benign
6	51638887	G	C	G51638887C	PKHD1	NM_138694.4(PKHD1):c.11468C>G:p.Ser3823Ter	coding	Pathogenic
6	51638952	G	T	G51638952T	PKHD1	NM_138694.4(PKHD1):c.11403C>A:p.Cys3801Ter	coding	Pathogenic
6	51639027	C	T	C51639027T	PKHD1	NM_138694.4(PKHD1):c.11399-71G>A	noncoding	Benign
6	51639160	T	C	T51639160C	PKHD1	NM_138694.4(PKHD1):c.11399-204A>G	noncoding	Benign
6	51647909	T	C	T51647909C	PKHD1	NM_138694.4(PKHD1):c.11398+122A>G	noncoding	Benign
6	51647965	C	G	C51647965G	PKHD1	NM_138694.4(PKHD1):c.11398+66G>C	noncoding	Benign
6	51649389	T	C	T51649389C	PKHD1	NM_138694.4(PKHD1):c.11175-169A>G	noncoding	Benign
6	51649407	T	C	T51649407C	PKHD1	NM_138694.4(PKHD1):c.11175-187A>G	noncoding	Benign
6	51659150	G	C	G51659150C	PKHD1	NM_138694.4(PKHD1):c.10976C>G:p.Ser3659Ter	coding	Pathogenic
6	51659399	C	T	C51659399T	PKHD1	NM_138694.4(PKHD1):c.10727G>A:p.Trp3576Ter	coding	Pathogenic
6	51659417	G	C	G51659417C	PKHD1	NM_138694.4(PKHD1):c.10709C>G:p.Ser3570Ter	coding	Pathogenic/Likely_pathogenic
6	51659565	G	A	G51659565A	PKHD1	NM_138694.4(PKHD1):c.10561C>T:p.Gln3521Ter	coding	Pathogenic
6	51660001	T	C	T51660001C	PKHD1	NM_138694.4(PKHD1):c.10157-32A>G	noncoding	Benign
6	51721747	A	C	A51721747C	PKHD1	NM_138694.4(PKHD1):c.10156+22638T>G	coding	Benign
6	51721973	G	A	G51721973A	PKHD1	NM_138694.4(PKHD1):c.10156+22412C>T	coding	Benign
6	51721974	C	T	C51721974T	PKHD1	NM_138694.4(PKHD1):c.10156+22411G>A	coding	Benign
6	51722341	G	A	G51722341A	PKHD1	NM_138694.4(PKHD1):c.10156+22044C>T	noncoding	Benign
6	51744183	G	A	G51744183A	PKHD1	NM_138694.4(PKHD1):c.10156+202C>T	noncoding	Benign
6	51744407	C	T	C51744407T	PKHD1	NM_138694.4(PKHD1):c.10134G>A:p.Trp3378Ter	coding	Pathogenic
6	51746546	A	G	A51746546G	PKHD1	NM_138694.4(PKHD1):c.9998+175T>C	noncoding	Benign
6	51747560	T	C	T51747560C	PKHD1	NM_138694.4(PKHD1):c.9829+227A>G	noncoding	Benign
6	51747933	G	T	G51747933T	PKHD1	NM_138694.4(PKHD1):c.9683C>A:p.Ser3228Ter	coding	Pathogenic/Likely_pathogenic
6	51747997	C	T	C51747997T	PKHD1	NM_138694.4(PKHD1):c.9619G>A:p.Ala3207Thr	coding	Pathogenic/Likely_pathogenic
6	51748027	G	A	G51748027A	PKHD1	NM_138694.4(PKHD1):c.9589C>T:p.Gln3197Ter	coding	Pathogenic
6	51748155	T	C	T51748155C	PKHD1	NM_138694.4(PKHD1):c.9461A>G:p.Asp3154Gly	coding	Pathogenic
6	51748397	C	T	C51748397T	PKHD1	NM_138694.4(PKHD1):c.9219G>A:p.Trp3073Ter	coding	Pathogenic
6	51748636	G	A	G51748636A	PKHD1	NM_138694.4(PKHD1):c.8980C>T:p.Gln2994Ter	coding	Pathogenic
6	51753002	A	G	A51753002G	PKHD1	NM_138694.4(PKHD1):c.8950+199T>C	noncoding	Benign
6	51753157	T	C	T51753157C	PKHD1	NM_138694.4(PKHD1):c.8950+44A>G	noncoding	Benign/Likely_benign
6	51753288	G	A	G51753288A	PKHD1	NM_138694.4(PKHD1):c.8863C>T:p.Arg2955Ter	coding	Pathogenic
6	51754646	G	A	G51754646A	PKHD1	NM_138694.4(PKHD1):c.8797+138C>T	noncoding	Benign
6	51754799	T	A	T51754799A	PKHD1	NM_138694.4(PKHD1):c.8782A>T:p.Lys2928Ter	coding	Pathogenic
6	51754838	C	A	C51754838A	PKHD1	NM_138694.4(PKHD1):c.8743G>T:p.Glu2915Ter	coding	Pathogenic
6	51755010	G	A	G51755010A	PKHD1	NM_138694.4(PKHD1):c.8643-72C>T	noncoding	Benign
6	51755092	G	A	G51755092A	PKHD1	NM_138694.4(PKHD1):c.8643-154C>T	noncoding	Benign
6	51755123	T	C	T51755123C	PKHD1	NM_138694.4(PKHD1):c.8643-185A>G	noncoding	Benign
6	51755174	A	G	A51755174G	PKHD1	NM_138694.4(PKHD1):c.8643-236T>C	noncoding	Benign
6	51772442	G	C	G51772442C	PKHD1	NM_138694.4(PKHD1):c.8642+260C>G	noncoding	Benign
6	51772913	C	T	C51772913T	PKHD1	NM_138694.4(PKHD1):c.8555-124G>A	noncoding	Benign
6	51775807	C	T	C51775807T	PKHD1	NM_138694.4(PKHD1):c.8554+1G>A	noncoding	Pathogenic
6	51775989	A	G	A51775989G	PKHD1	NM_138694.4(PKHD1):c.8441-68T>C	noncoding	Benign
6	51790998	T	C	T51790998C	PKHD1	NM_138694.4(PKHD1):c.8440+238A>G	noncoding	Benign
6	51791005	C	T	C51791005T	PKHD1	NM_138694.4(PKHD1):c.8440+231G>A	noncoding	Benign
6	51791359	C	A	C51791359A	PKHD1	NM_138694.4(PKHD1):c.8317G>T:p.Val2773Leu	coding	Pathogenic/Likely_pathogenic
6	51791438	G	T	G51791438T	PKHD1	NM_138694.4(PKHD1):c.8303-65C>A	noncoding	Benign
6	51791590	A	G	A51791590G	PKHD1	NM_138694.4(PKHD1):c.8303-217T>C	noncoding	Benign
6	51791663	G	A	G51791663A	PKHD1	NM_138694.4(PKHD1):c.8303-290C>T	noncoding	Benign
6	51791701	T	C	T51791701C	PKHD1	NM_138694.4(PKHD1):c.8303-328A>G	noncoding	Benign
6	51830772	T	A	T51830772A	PKHD1	NM_138694.4(PKHD1):c.8302+89A>T	noncoding	Benign
6	51830859	A	G	A51830859G	PKHD1	NM_138694.4(PKHD1):c.8302+2T>C	noncoding	Pathogenic/Likely_pathogenic
6	51830955	C	T	C51830955T	PKHD1	NM_138694.4(PKHD1):c.8208G>A:p.Trp2736Ter	coding	Pathogenic
6	51830968	G	C	G51830968C	PKHD1	NM_138694.4(PKHD1):c.8195C>G:p.Ser2732Ter	coding	Pathogenic
6	51831161	C	G	C51831161G	PKHD1	NM_138694.4(PKHD1):c.8174-172G>C	noncoding	Benign
6	51831258	A	G	A51831258G	PKHD1	NM_138694.4(PKHD1):c.8174-269T>C	noncoding	Benign
6	51831276	G	A	G51831276A	PKHD1	NM_138694.4(PKHD1):c.8174-287C>T	noncoding	Benign
6	51831313	C	G	C51831313G	PKHD1	NM_138694.4(PKHD1):c.8174-324G>C	noncoding	Benign
6	51831324	T	A	T51831324A	PKHD1	NM_138694.4(PKHD1):c.8174-335A>T	noncoding	Benign
6	51836260	C	T	C51836260T	PKHD1	NM_138694.4(PKHD1):c.8173+144G>A	noncoding	Benign
6	51836292	T	C	T51836292C	PKHD1	NM_138694.4(PKHD1):c.8173+112A>G	noncoding	Benign
6	51836303	T	A	T51836303A	PKHD1	NM_138694.4(PKHD1):c.8173+101A>T	noncoding	Benign/Likely_benign
6	51836449	G	A	G51836449A	PKHD1	NM_138694.4(PKHD1):c.8128C>T:p.Gln2710Ter	coding	Pathogenic
6	51836470	C	G	C51836470G	PKHD1	NM_138694.4(PKHD1):c.8108-1G>C	coding	Pathogenic
6	51836533	C	T	C51836533T	PKHD1	NM_138694.4(PKHD1):c.8108-64G>A	noncoding	Benign/Likely_benign
6	51836635	T	C	T51836635C	PKHD1	NM_138694.4(PKHD1):c.8108-166A>G	noncoding	Benign
6	51836664	T	C	T51836664C	PKHD1	NM_138694.4(PKHD1):c.8108-195A>G	noncoding	Benign
6	51836686	G	A	G51836686A	PKHD1	NM_138694.4(PKHD1):c.8108-217C>T	noncoding	Benign
6	51847694	A	T	A51847694T	PKHD1	NM_138694.4(PKHD1):c.8107+81T>A	noncoding	Benign
6	51847813	C	T	C51847813T	PKHD1	NM_138694.4(PKHD1):c.8069G>A:p.Trp2690Ter	coding	Pathogenic
6	51847814	A	G	A51847814G	PKHD1	NM_138694.4(PKHD1):c.8068T>C:p.Trp2690Arg	coding	Pathogenic/Likely_pathogenic
6	51847971	C	G	C51847971G	PKHD1	NM_138694.4(PKHD1):c.7912-1G>C	coding	Pathogenic
6	51848214	G	C	G51848214C	PKHD1	NM_138694.4(PKHD1):c.7912-244C>G	noncoding	Benign
6	51867800	G	A	G51867800A	PKHD1	NM_138694.4(PKHD1):c.7733+63C>T	noncoding	Benign
6	51868082	A	T	A51868082T	PKHD1	NM_138694.4(PKHD1):c.7514T>A:p.Leu2505Ter	coding	Pathogenic
6	51870517	A	T	A51870517T	PKHD1	NM_138694.4(PKHD1):c.7473T>A:p.Cys2491Ter	coding	Pathogenic
6	51870595	C	T	C51870595T	PKHD1	NM_138694.4(PKHD1):c.7395G>A:p.Trp2465Ter	coding	Pathogenic
6	51870815	T	C	T51870815C	PKHD1	NM_138694.4(PKHD1):c.7351-176A>G	noncoding	Benign
6	51882440	T	C	T51882440C	PKHD1	NM_138694.4(PKHD1):c.7350+653A>G	noncoding	Pathogenic/Likely_pathogenic
6	51882725	T	C	T51882725C	PKHD1	NM_138694.4(PKHD1):c.7350+368A>G	noncoding	Benign
6	51882791	T	C	T51882791C	PKHD1	NM_138694.4(PKHD1):c.7350+302A>G	noncoding	Benign
6	51885765	A	T	A51885765T	PKHD1	NM_138694.4(PKHD1):c.7215+102T>A	noncoding	Benign
6	51885933	C	T	C51885933T	PKHD1	NM_138694.4(PKHD1):c.7149G>A:p.Trp2383Ter	coding	Pathogenic
6	51886163	G	A	G51886163A	PKHD1	NM_138694.4(PKHD1):c.7110-191C>T	noncoding	Benign
6	51904012	C	T	C51904012T	PKHD1	NM_138694.4(PKHD1):c.6839G>A:p.Trp2280Ter	coding	Pathogenic
6	51906214	C	A	C51906214A	PKHD1	NM_138694.4(PKHD1):c.6808+1G>T	noncoding	Pathogenic
6	51909580	T	A	T51909580A	PKHD1	NM_138694.4(PKHD1):c.6491-106A>T	noncoding	Benign
6	51911737	T	C	T51911737C	PKHD1	NM_138694.4(PKHD1):c.6490+62A>G	noncoding	Benign/Likely_benign
6	51911847	C	A	C51911847A	PKHD1	NM_138694.4(PKHD1):c.6442G>T:p.Glu2148Ter	coding	Pathogenic
6	51911953	A	C	A51911953C	PKHD1	NM_138694.4(PKHD1):c.6336T>G:p.Tyr2112Ter	coding	Pathogenic
6	51933955	G	A	G51933955A	PKHD1	NM_138694.4(PKHD1):c.6121+155C>T	noncoding	Benign
6	51933962	T	A	T51933962A	PKHD1	NM_138694.4(PKHD1):c.6121+148A>T	noncoding	Benign
6	51934236	C	A	C51934236A	PKHD1	NM_138694.4(PKHD1):c.5995G>T:p.Gly1999Ter	coding	Pathogenic
6	51934296	C	T	C51934296T	PKHD1	NM_138694.4(PKHD1):c.5935G>A:p.Gly1979Arg	coding	Pathogenic
6	51960028	T	C	T51960028C	PKHD1	NM_138694.4(PKHD1):c.5752-2A>G	noncoding	Pathogenic/Likely_pathogenic
6	52010365	G	A	G52010365A	PKHD1	NM_138694.4(PKHD1):c.5695C>T:p.Gln1899Ter	coding	Pathogenic
6	52017277	C	G	C52017277G	PKHD1	NM_138694.4(PKHD1):c.5600+133G>C	noncoding	Benign
6	52017497	T	C	T52017497C	PKHD1	NM_138694.4(PKHD1):c.5513A>G:p.Tyr1838Cys	coding	Pathogenic/Likely_pathogenic
6	52017508	C	T	C52017508T	PKHD1	NM_138694.4(PKHD1):c.5502G>A:p.Trp1834Ter	coding	Pathogenic
6	52017882	A	G	A52017882G	PKHD1	NM_138694.4(PKHD1):c.5381-253T>C	noncoding	Benign
6	52022621	T	G	T52022621G	PKHD1	NM_138694.4(PKHD1):c.5380+180A>C	noncoding	Benign
6	52022859	G	T	G52022859T	PKHD1	NM_138694.4(PKHD1):c.5322C>A:p.Cys1774Ter	coding	Pathogenic
6	52024817	G	A	G52024817A	PKHD1	NM_138694.4(PKHD1):c.4993C>T:p.Gln1665Ter	coding	Pathogenic
6	52024972	C	T	C52024972T	PKHD1	NM_138694.4(PKHD1):c.4838G>A:p.Cys1613Tyr	coding	Pathogenic
6	52025590	A	C	A52025590C	PKHD1	NM_138694.4(PKHD1):c.4220T>G:p.Leu1407Arg	coding	Pathogenic/Likely_pathogenic
6	52028249	G	A	G52028249A	PKHD1	NM_138694.4(PKHD1):c.3467C>T:p.Ser1156Leu	coding	Pathogenic/Likely_pathogenic
6	52032767	C	T	C52032767T	PKHD1	NM_138694.4(PKHD1):c.3364+263G>A	noncoding	Benign
6	52033346	C	G	C52033346G	PKHD1	NM_138694.4(PKHD1):c.3229-181G>C	noncoding	Benign
6	52033357	C	T	C52033357T	PKHD1	NM_138694.4(PKHD1):c.3229-192G>A	noncoding	Benign
6	52033466	T	A	T52033466A	PKHD1	NM_138694.4(PKHD1):c.3229-301A>T	noncoding	Benign
6	52035590	C	A	C52035590A	PKHD1	NM_138694.4(PKHD1):c.3228+1G>T	noncoding	Pathogenic/Likely_pathogenic
6	52042844	C	A	C52042844A	PKHD1	NM_138694.4(PKHD1):c.3097+15G>T	noncoding	Benign
6	52042966	A	T	A52042966T	PKHD1	NM_138694.4(PKHD1):c.2990T>A:p.Met997Lys	coding	Pathogenic
6	52044727	T	C	T52044727C	PKHD1	NM_138694.4(PKHD1):c.2715+239A>G	noncoding	Benign
6	52044979	T	G	T52044979G	PKHD1	NM_138694.4(PKHD1):c.2702A>C:p.Asn901Thr	coding	Pathogenic/Likely_pathogenic
6	52048555	G	A	G52048555A	PKHD1	NM_138694.4(PKHD1):c.2344C>T:p.Gln782Ter	coding	Pathogenic
6	52050100	T	C	T52050100C	PKHD1	NM_138694.4(PKHD1):c.2279+57A>G	noncoding	Benign
6	52050616	A	G	A52050616G	PKHD1	NM_138694.4(PKHD1):c.2141-321T>C	noncoding	Benign
6	52053109	C	T	C52053109T	PKHD1	NM_138694.4(PKHD1):c.2107G>A:p.Asp703Asn	coding	Pathogenic
6	52053157	G	A	G52053157A	PKHD1	NM_138694.4(PKHD1):c.2059C>T:p.Gln687Ter	coding	Pathogenic
6	52053224	C	T	C52053224T	PKHD1	NM_138694.4(PKHD1):c.1992G>A:p.Trp664Ter	coding	Pathogenic
6	52053248	C	A	C52053248A	PKHD1	NM_138694.4(PKHD1):c.1968G>T:p.Trp656Cys	coding	Pathogenic
6	52053249	C	T	C52053249T	PKHD1	NM_138694.4(PKHD1):c.1967G>A:p.Trp656Ter	coding	Pathogenic
6	52054037	C	A	C52054037A	PKHD1	NM_138694.4(PKHD1):c.1964+1G>T	noncoding	Pathogenic/Likely_pathogenic
6	52054455	G	A	G52054455A	PKHD1	NM_138694.4(PKHD1):c.1837-290C>T	noncoding	Benign
6	52055649	G	A	G52055649A	PKHD1	NM_138694.4(PKHD1):c.1774C>T:p.Arg592Ter	coding	Pathogenic
6	52058438	C	T	C52058438T	PKHD1	NM_138694.4(PKHD1):c.1397G>A:p.Gly466Glu	coding	Pathogenic/Likely_pathogenic
6	52059888	C	G	C52059888G	PKHD1	NM_138694.4(PKHD1):c.1233+40G>C	noncoding	Benign
6	52062868	T	C	T52062868C	PKHD1	NM_138694.4(PKHD1):c.977-208A>G	noncoding	Benign
6	52062885	T	C	T52062885C	PKHD1	NM_138694.4(PKHD1):c.977-225A>G	noncoding	Benign
6	52064678	T	G	T52064678G	PKHD1	NM_138694.4(PKHD1):c.976+277A>C	noncoding	Benign
6	52065158	T	G	T52065158G	PKHD1	NM_138694.4(PKHD1):c.881-108A>C	noncoding	Benign
6	52065160	T	G	T52065160G	PKHD1	NM_138694.4(PKHD1):c.881-110A>C	noncoding	Benign
6	52065162	T	G	T52065162G	PKHD1	NM_138694.4(PKHD1):c.881-112A>C	noncoding	Benign
6	52065164	T	G	T52065164G	PKHD1	NM_138694.4(PKHD1):c.881-114A>C	noncoding	Benign
6	52065166	T	G	T52065166G	PKHD1	NM_138694.4(PKHD1):c.881-116A>C	noncoding	Benign
6	52065298	G	A	G52065298A	PKHD1	NM_138694.4(PKHD1):c.881-248C>T	noncoding	Benign
6	52065639	T	G	T52065639G	PKHD1	NM_138694.4(PKHD1):c.880+337A>C	noncoding	Benign
6	52065991	G	A	G52065991A	PKHD1	NM_138694.4(PKHD1):c.865C>T:p.Gln289Ter	coding	Pathogenic
6	52069244	T	C	T52069244C	PKHD1	NM_138694.4(PKHD1):c.778+213A>G	noncoding	Benign
6	52070178	C	T	C52070178T	PKHD1	NM_138694.4(PKHD1):c.707+228G>A	noncoding	Benign
6	52070180	A	C	A52070180C	PKHD1	NM_138694.4(PKHD1):c.707+226T>G	noncoding	Benign
6	52070263	T	G	T52070263G	PKHD1	NM_138694.4(PKHD1):c.707+143A>C	noncoding	Benign
6	52070949	C	T	C52070949T	PKHD1	NM_138694.4(PKHD1):c.667+57G>A	noncoding	Benign
6	52071919	C	T	C52071919T	PKHD1	NM_138694.4(PKHD1):c.602+196G>A	noncoding	Benign
6	52072048	T	C	T52072048C	PKHD1	NM_138694.4(PKHD1):c.602+67A>G	noncoding	Benign
6	52072170	G	A	G52072170A	PKHD1	NM_138694.4(PKHD1):c.547C>T:p.Gln183Ter	coding	Pathogenic
6	52073276	T	C	T52073276C	PKHD1	NM_138694.4(PKHD1):c.527+187A>G	noncoding	Benign
6	52073412	C	A	C52073412A	PKHD1	NM_138694.4(PKHD1):c.527+51G>T	noncoding	Benign/Likely_benign
6	52073506	C	A	C52073506A	PKHD1	NM_138694.4(PKHD1):c.484G>T:p.Gly162Ter	coding	Pathogenic
6	52076018	T	C	T52076018C	PKHD1	NM_138694.4(PKHD1):c.448+258A>G	noncoding	Benign
6	52079953	C	A	C52079953A	PKHD1	NM_138694.4(PKHD1):c.337G>T:p.Gly113Ter	coding	Pathogenic
6	52080049	T	C	T52080049C	PKHD1	NM_138694.4(PKHD1):c.282-41A>G	noncoding	Benign
6	52080158	C	T	C52080158T	PKHD1	NM_138694.4(PKHD1):c.282-150G>A	noncoding	Benign
6	52082095	T	C	T52082095C	PKHD1	NM_138694.4(PKHD1):c.281+297A>G	noncoding	Benign
6	52084932	A	G	A52084932G	PKHD1	NM_138694.4(PKHD1):c.2T>C:p.Met1Thr	coding	Pathogenic
6	52085064	A	G	A52085064G	PKHD1	NM_138694.4(PKHD1):c.-84-47T>C	noncoding	Benign
6	52186235	G	A	G52186235A	IL17A	Single_allele	noncoding	Benign
6	52186476	G	A	G52186476A	IL17A	NM_002190.3(IL17A):c.27+18G>A	noncoding	Benign
6	52188798	T	C	T52188798C	IL17A	NM_002190.3(IL17A):c.231-257T>C	noncoding	Benign
6	52189451	G	A	G52189451A	IL17A	NM_002190.3(IL17A):c.*159G>A	noncoding	Benign
6	52190541	C	T	C52190541T	IL17A	NM_002190.3(IL17A):c.*1249C>T	noncoding	Benign
6	52239066	T	C	T52239066C	IL17F	NM_052872.4(IL17F):c.34-116A>G	noncoding	Benign
6	52244207	T	G	T52244207G	IL17F	NM_052872.4(IL17F):c.33+190A>C	noncoding	Benign
6	52244588	G	A	G52244588A	IL17F	Single_allele	noncoding	Benign
6	52244823	T	C	T52244823C	IL17F	Single_allele	noncoding	Benign
6	52419923	G	C	G52419923C	EFHC1	Single_allele	noncoding	Benign
6	52420216	A	G	A52420216G	EFHC1	NM_018100.3(EFHC1):c.-195A>G	noncoding	Benign/Likely_benign
6	52420596	G	C	G52420596C	EFHC1	NM_018100.4(EFHC1):c.63+123G>C	noncoding	Benign
6	52423788	G	C	G52423788C	EFHC1	NM_018100.4(EFHC1):c.64-158G>C	coding	Benign
6	52424111	C	A	C52424111A	EFHC1	NM_018100.4(EFHC1):c.229C>A:p.Pro77Thr	coding	Benign/Likely_benign
6	52438124	T	A	T52438124A	EFHC1	NM_018100.4(EFHC1):c.286-180T>A	noncoding	Benign
6	52438250	G	T	G52438250T	EFHC1	NM_018100.4(EFHC1):c.286-54G>T	noncoding	Benign
6	52452776	G	A	G52452776A	EFHC1	NM_018100.4(EFHC1):c.662G>A:p.Arg221His	coding	Benign/Likely_benign
6	52452943	C	T	C52452943T	EFHC1	NM_018100.4(EFHC1):c.723+106C>T	coding	Benign
6	52454453	C	T	C52454453T	EFHC1	NM_018100.4(EFHC1):c.916+166C>T	noncoding	Benign
6	52464712	G	A	G52464712A	EFHC1	NM_018100.4(EFHC1):c.917-183G>A	noncoding	Benign
6	52464777	G	T	G52464777T	EFHC1	NM_018100.4(EFHC1):c.917-118G>T	noncoding	Benign
6	52469573	T	C	T52469573C	EFHC1	NM_018100.4(EFHC1):c.1278+100T>C	noncoding	Benign
6	52479864	A	C	A52479864C	EFHC1	NM_018100.4(EFHC1):c.1640+77A>C	noncoding	Benign
6	52490408	T	C	T52490408C	EFHC1	NM_018100.4(EFHC1):c.1851+58T>C	noncoding	Benign
6	52490576	A	G	A52490576G	EFHC1	NM_018100.4(EFHC1):c.1851+226A>G	noncoding	Benign
6	52490629	C	T	C52490629T	EFHC1	NM_018100.4(EFHC1):c.1851+279C>T	noncoding	Benign
6	52493212	C	G	C52493212G	EFHC1	NM_018100.4(EFHC1):c.*871C>G	noncoding	Benign/Likely_benign
6	52493222	A	T	A52493222T	EFHC1	NM_018100.4(EFHC1):c.*881A>T	noncoding	Benign/Likely_benign
6	52493364	A	C	A52493364C	EFHC1	NM_018100.4(EFHC1):c.*1023A>C	noncoding	Benign
6	52493366	A	C	A52493366C	EFHC1	NM_018100.4(EFHC1):c.*1025A>C	noncoding	Benign
6	52493368	A	C	A52493368C	EFHC1	NM_018100.4(EFHC1):c.*1027A>C	noncoding	Benign
6	53005376	G	C	G53005376C	CILK1	NM_014920.5(CILK1):c.1745-73C>G	noncoding	Benign
6	53005522	A	C	A53005522C	CILK1	NM_014920.5(CILK1):c.1745-219T>G	noncoding	Benign
6	53009535	G	A	G53009535A	CILK1	NM_014920.5(CILK1):c.1525C>T:p.Pro509Ser	coding	Benign
6	53011579	G	A	G53011579A	CILK1	NM_014920.5(CILK1):c.1492+190C>T	noncoding	Benign
6	53011842	A	G	A53011842G	CILK1	NM_014920.5(CILK1):c.1419T>C:p.Tyr473=	coding	Benign/Likely_benign
6	53012383	A	G	A53012383G	CILK1	NM_014920.5(CILK1):c.1153-156T>C	noncoding	Benign
6	53013839	T	C	T53013839C	CILK1	NM_014920.5(CILK1):c.975A>G:p.Pro325=	coding	Benign
6	53013856	C	T	C53013856T	CILK1	NM_014920.5(CILK1):c.958G>A:p.Val320Ile	coding	Benign
6	53018521	C	T	C53018521T	CILK1	NM_014920.5(CILK1):c.492-20G>A	noncoding	Benign
6	53031054	G	A	G53031054A	CILK1	NM_014920.5(CILK1):c.358+11C>T	noncoding	Benign
6	53031200	T	C	T53031200C	CILK1	NM_014920.5(CILK1):c.279-56A>G	noncoding	Benign
6	53032328	A	T	A53032328T	CILK1	NM_014920.5(CILK1):c.278+205T>A	noncoding	Benign
6	53037889	A	G	A53037889G	CILK1	NM_014920.5(CILK1):c.156+50T>C	noncoding	Benign
6	53037893	C	T	C53037893T	CILK1	NM_014920.5(CILK1):c.156+46G>A	noncoding	Benign
6	53038054	T	C	T53038054C	CILK1	NM_014920.5(CILK1):c.102-61A>G	noncoding	Benign
6	53040983	G	T	G53040983T	CILK1	NM_014920.5(CILK1):c.101+153C>A	noncoding	Benign
6	53269503	A	G	A53269503G	ELOVL5	NM_021814.5(ELOVL5):c.757-233T>C	noncoding	Benign
6	53273462	G	A	G53273462A	ELOVL5	NM_021814.5(ELOVL5):c.497-118C>T	noncoding	Benign
6	53275363	G	A	G53275363A	ELOVL5	NM_021814.5(ELOVL5):c.325-102C>T	noncoding	Benign
6	53275962	G	A	G53275962A	ELOVL5	NM_021814.5(ELOVL5):c.324+217C>T	noncoding	Benign
6	53276130	T	A	T53276130A	ELOVL5	NM_021814.5(ELOVL5):c.324+49A>T	noncoding	Benign
6	53276406	A	C	A53276406C	ELOVL5	NM_021814.5(ELOVL5):c.247-150T>G	noncoding	Benign
6	53287844	G	A	G53287844A	ELOVL5	NM_021814.5(ELOVL5):c.246+3932C>T	noncoding	Benign
6	53287960	A	G	A53287960G	ELOVL5	NM_021814.5(ELOVL5):c.246+3816T>C	noncoding	Benign
6	53288047	T	G	T53288047G	ELOVL5	NM_021814.5(ELOVL5):c.246+3729A>C	noncoding	Benign
6	53291666	A	C	A53291666C	ELOVL5	NM_021814.5(ELOVL5):c.246+110T>G	noncoding	Benign
6	53294292	G	T	G53294292T	ELOVL5	NM_021814.5(ELOVL5):c.58+1350C>A	coding	Benign
6	53294435	G	A	G53294435A	ELOVL5	NM_021814.5(ELOVL5):c.58+1207C>T	coding	Benign
6	53294601	T	C	T53294601C	ELOVL5	NM_021814.5(ELOVL5):c.58+1041A>G	noncoding	Benign
6	53294749	C	T	C53294749T	ELOVL5	NM_021814.5(ELOVL5):c.58+893G>A	noncoding	Benign
6	53294778	T	C	T53294778C	ELOVL5	NM_021814.5(ELOVL5):c.58+864A>G	noncoding	Benign
6	53295435	T	A	T53295435A	ELOVL5	NM_021814.5(ELOVL5):c.58+207A>T	noncoding	Benign
6	53295546	C	T	C53295546T	ELOVL5	NM_021814.5(ELOVL5):c.58+96G>A	noncoding	Benign
6	53295585	G	T	G53295585T	ELOVL5	NM_021814.5(ELOVL5):c.58+57C>A	noncoding	Benign
6	53498986	C	T	C53498986T	GCLC	NM_001498.4(GCLC):c.1703-19G>A	noncoding	Benign
6	53499150	G	C	G53499150C	GCLC	NM_001498.4(GCLC):c.1703-183C>G	noncoding	Benign
6	53500115	G	A	G53500115A	GCLC	NM_001498.4(GCLC):c.1632C>T:p.Asn544=	coding	Benign/Likely_benign
6	53500221	G	C	G53500221C	GCLC	NM_001498.4(GCLC):c.1581+26C>G	noncoding	Benign
6	53500366	G	T	G53500366T	GCLC	NM_001498.4(GCLC):c.1478-16C>A	noncoding	Benign/Likely_benign
6	53500576	C	T	C53500576T	GCLC	NM_001498.4(GCLC):c.1396-63G>A	noncoding	Benign
6	53505216	G	A	G53505216A	GCLC	NM_001498.4(GCLC):c.1395+176C>T	noncoding	Benign
6	53505309	T	C	T53505309C	GCLC	NM_001498.4(GCLC):c.1395+83A>G	noncoding	Benign
6	53505597	C	T	C53505597T	GCLC	NM_001498.4(GCLC):c.1291-101G>A	noncoding	Benign
6	53505954	A	T	A53505954T	GCLC	NM_001498.4(GCLC):c.1198-59T>A	noncoding	Benign
6	53506662	A	G	A53506662G	GCLC	NM_001498.4(GCLC):c.1197+251T>C	noncoding	Benign
6	53507347	T	C	T53507347C	GCLC	NM_001498.4(GCLC):c.1084+133A>G	noncoding	Benign
6	53508307	A	G	A53508307G	GCLC	NM_001498.4(GCLC):c.945+288T>C	noncoding	Benign
6	53508399	G	C	G53508399C	GCLC	NM_001498.4(GCLC):c.945+196C>G	noncoding	Benign
6	53508973	C	T	C53508973T	GCLC	NM_001498.4(GCLC):c.828+203G>A	noncoding	Benign
6	53514607	A	C	A53514607C	GCLC	NM_001498.4(GCLC):c.561-110T>G	noncoding	Benign
6	53514719	C	A	C53514719A	GCLC	NM_001498.4(GCLC):c.561-222G>T	noncoding	Benign
6	53515915	C	T	C53515915T	GCLC	NM_001498.4(GCLC):c.560+194G>A	noncoding	Benign
6	53520545	C	T	C53520545T	GCLC	NM_001498.4(GCLC):c.446+233G>A	noncoding	Benign
6	53520677	C	T	C53520677T	GCLC	NM_001498.4(GCLC):c.446+101G>A	noncoding	Benign
6	53522444	C	A	C53522444A	GCLC	NM_001498.4(GCLC):c.234G>T:p.Leu78=	coding	Benign
6	54189888	T	A	T54189888A	MLIP	NM_001281747.2(MLIP):c.2563T>A:p.Ser855Thr	coding	Benign
6	56459381	A	G	A56459381G	DST	NM_001374736.1(DST):c.23195-114T>C	noncoding	Benign
6	56460138	C	T	C56460138T	DST	NM_001374736.1(DST):c.23187G>A:p.Gln7729=	coding	Benign
6	56463051	C	T	C56463051T	DST	NM_001374736.1(DST):c.23065G>A:p.Ala7689Thr	coding	Benign
6	56463058	C	T	C56463058T	DST	NM_001374736.1(DST):c.23058G>A:p.Val7686=	coding	Benign/Likely_benign
6	56463971	C	T	C56463971T	DST	NM_001374736.1(DST):c.22760-207G>A	noncoding	Benign
6	56464724	C	A	C56464724A	DST	NM_001374736.1(DST):c.22720G>T:p.Glu7574Ter	noncoding	Pathogenic
6	56465884	A	G	A56465884G	DST	NM_001374736.1(DST):c.22687+194T>C	noncoding	Benign
6	56465935	T	C	T56465935C	DST	NM_001374736.1(DST):c.22687+143A>G	noncoding	Benign
6	56466063	T	G	T56466063G	DST	NM_001374736.1(DST):c.22687+15A>C	noncoding	Benign
6	56466212	G	C	G56466212C	DST	NM_001374736.1(DST):c.22570-17C>G	noncoding	Benign
6	56469796	A	T	A56469796T	DST	NM_001374736.1(DST):c.22551+87T>A	noncoding	Benign
6	56470506	T	C	T56470506C	DST	NM_001374736.1(DST):c.22322-224A>G	noncoding	Benign
6	56471093	T	C	T56471093C	DST	NM_001374736.1(DST):c.22321+13A>G	noncoding	Benign
6	56472240	C	G	C56472240G	DST	NM_001374736.1(DST):c.21995-18G>C	noncoding	Benign/Likely_benign
6	56472240	C	T	C56472240T	DST	NM_001374736.1(DST):c.21995-18G>A	noncoding	Benign
6	56473766	G	T	G56473766T	DST	NM_001374736.1(DST):c.21994+107C>A	noncoding	Benign
6	56473882	G	A	G56473882A	DST	NM_001374736.1(DST):c.21985C>T:p.Arg7329Ter	coding	Pathogenic
6	56475917	G	A	G56475917A	DST	NM_001374736.1(DST):c.21864+232C>T	noncoding	Benign
6	56476005	G	A	G56476005A	DST	NM_001374736.1(DST):c.21864+144C>T	noncoding	Benign
6	56476151	G	A	G56476151A	DST	NM_001374736.1(DST):c.21862C>T:p.Gln7288Ter	coding	Pathogenic
6	56477183	G	T	G56477183T	DST	NM_001374736.1(DST):c.21675+162C>A	noncoding	Benign
6	56477338	C	T	C56477338T	DST	NM_001374736.1(DST):c.21675+7G>A	noncoding	Benign/Likely_benign
6	56482902	T	C	T56482902C	DST	NM_001374736.1(DST):c.21208-25A>G	noncoding	Benign
6	56485162	C	T	C56485162T	DST	NM_001374736.1(DST):c.21207+150G>A	noncoding	Benign
6	56485541	T	A	T56485541A	DST	NM_001374736.1(DST):c.21048-70A>T	noncoding	Benign
6	56487174	G	C	G56487174C	DST	NM_001374736.1(DST):c.20977C>G:p.Leu6993Val	coding	Benign
6	56489869	A	C	A56489869C	DST	NM_001374736.1(DST):c.20758-260T>G	noncoding	Benign
6	56492943	G	A	G56492943A	DST	NM_001374736.1(DST):c.20541C>T:p.Asp6847=	coding	Benign
6	56493323	T	C	T56493323C	DST	NM_001374736.1(DST):c.20395-234A>G	noncoding	Benign
6	56494150	C	A	C56494150A	DST	NM_001374736.1(DST):c.20254G>T:p.Glu6752Ter	coding	Pathogenic
6	56494236	C	A	C56494236A	DST	NM_001374736.1(DST):c.20224-56G>T	noncoding	Benign
6	56497449	C	T	C56497449T	DST	NM_001374736.1(DST):c.20153G>A:p.Arg6718His	coding	Benign
6	56497505	G	A	G56497505A	DST	NM_001374736.1(DST):c.20097C>T:p.Ala6699=	coding	Benign
6	56498036	T	C	T56498036C	DST	NM_001374736.1(DST):c.19914A>G:p.Val6638=	coding	Benign
6	56501016	A	G	A56501016G	DST	NM_001374736.1(DST):c.19896+64T>C	noncoding	Benign
6	56501379	G	A	G56501379A	DST	NM_001374736.1(DST):c.19740+141C>T	noncoding	Benign
6	56501487	T	G	T56501487G	DST	NM_001374736.1(DST):c.19740+33A>C	noncoding	Benign
6	56504204	A	G	A56504204G	DST	NM_001374736.1(DST):c.19465-106T>C	noncoding	Benign
6	56506684	T	A	T56506684A	DST	NM_001374736.1(DST):c.19345A>T:p.Lys6449Ter	coding	Pathogenic/Likely_pathogenic
6	56506900	A	G	A56506900G	DST	NM_001374736.1(DST):c.19240-111T>C	noncoding	Benign
6	56508738	C	T	C56508738T	DST	NM_001374736.1(DST):c.19030G>A:p.Asp6344Asn	coding	Benign
6	56509956	C	A	C56509956A	DST	NM_001374736.1(DST):c.18781-83G>T	noncoding	Benign
6	56510212	T	C	T56510212C	DST	NM_001374736.1(DST):c.18781-339A>G	noncoding	Benign
6	56511293	C	T	C56511293T	DST	NM_001374736.1(DST):c.18684G>A:p.Glu6228=	coding	Benign
6	56515165	A	G	A56515165G	DST	NM_001374736.1(DST):c.18576+285T>C	noncoding	Benign
6	56515587	G	A	G56515587A	DST	NM_001374736.1(DST):c.18439C>T:p.Gln6147Ter	coding	Pathogenic
6	56515684	A	G	A56515684G	DST	NM_001374736.1(DST):c.18358-16T>C	noncoding	Benign
6	56517114	G	A	G56517114A	DST	NM_001374736.1(DST):c.18357+84C>T	noncoding	Benign
6	56526429	G	A	G56526429A	DST	NM_001374736.1(DST):c.18061C>T:p.Arg6021Ter	coding	Pathogenic
6	56526687	C	G	C56526687G	DST	NM_001374736.1(DST):c.17923-120G>C	noncoding	Benign
6	56529375	T	C	T56529375C	DST	NM_001374736.1(DST):c.17595+73A>G	noncoding	Benign
6	56529871	A	T	A56529871T	DST	NM_001374736.1(DST):c.17269-97T>A	noncoding	Benign
6	56530253	C	A	C56530253A	DST	NM_001374736.1(DST):c.17109-120G>T	noncoding	Benign
6	56532593	G	A	G56532593A	DST	NM_001374736.1(DST):c.16942-83C>T	noncoding	Benign
6	56534839	C	A	C56534839A	DST	NM_001374736.1(DST):c.16941+283G>T	noncoding	Benign
6	56534933	A	T	A56534933T	DST	NM_001374736.1(DST):c.16941+189T>A	noncoding	Benign
6	56535017	C	T	C56535017T	DST	NM_001374736.1(DST):c.16941+105G>A	noncoding	Benign
6	56535283	G	A	G56535283A	DST	NM_001374736.1(DST):c.16780C>T:p.Arg5594Ter	coding	Pathogenic
6	56537091	A	G	A56537091G	DST	NM_001374736.1(DST):c.16609-151T>C	noncoding	Benign
6	56537201	G	A	G56537201A	DST	NM_001374736.1(DST):c.16609-261C>T	noncoding	Benign
6	56552171	A	G	A56552171G	DST	NM_001374736.1(DST):c.16608+13T>C	noncoding	Benign
6	56552357	G	A	G56552357A	DST	NM_001374736.1(DST):c.16435C>T:p.Arg5479Ter	coding	Pathogenic
6	56552394	C	T	C56552394T	DST	NM_001374736.1(DST):c.16398G>A:p.Leu5466=	coding	Benign
6	56552469	A	G	A56552469G	DST	NM_001374736.1(DST):c.16323T>C:p.Asn5441=	coding	Benign
6	56552618	G	A	G56552618A	DST	NM_001374736.1(DST):c.16174C>T:p.Arg5392Ter	coding	Pathogenic
6	56553618	G	A	G56553618A	DST	NM_001374736.1(DST):c.15174C>T:p.Ser5058=	coding	Benign
6	56555360	C	T	C56555360T	DST	NM_001374736.1(DST):c.15121G>A:p.Val5041Ile	coding	Benign
6	56555740	C	T	C56555740T	DST	NM_001374736.1(DST):c.14741G>A:p.Arg4914His	coding	Benign
6	56557418	T	C	T56557418C	DST	NM_001374736.1(DST):c.14541A>G:p.Gln4847=	coding	Benign
6	56560052	T	G	T56560052G	DST	NM_001374736.1(DST):c.14440+242A>C	noncoding	Benign
6	56560442	T	C	T56560442C	DST	NM_001374736.1(DST):c.14311-19A>G	noncoding	Benign
6	56560486	A	G	A56560486G	DST	NM_001374736.1(DST):c.14311-63T>C	noncoding	Benign
6	56561102	G	A	G56561102A	DST	NM_001374736.1(DST):c.14310+206C>T	noncoding	Benign
6	56561123	T	A	T56561123A	DST	NM_001374736.1(DST):c.14310+185A>T	noncoding	Benign
6	56561173	A	G	A56561173G	DST	NM_001374736.1(DST):c.14310+135T>C	noncoding	Benign
6	56561565	A	C	A56561565C	DST	NM_001374736.1(DST):c.14069-16T>G	noncoding	Benign
6	56561764	G	A	G56561764A	DST	NM_001374736.1(DST):c.14069-215C>T	noncoding	Benign
6	56562206	A	G	A56562206G	DST	NM_001374736.1(DST):c.14006-6T>C	noncoding	Benign
6	56568924	G	C	G56568924C	DST	NM_001374736.1(DST):c.13879-329C>G	noncoding	Benign
6	56570016	C	T	C56570016T	DST	NM_001374736.1(DST):c.13722-4G>A	noncoding	Benign
6	56570159	A	T	A56570159T	DST	NM_001374736.1(DST):c.13722-147T>A	noncoding	Benign
6	56571847	G	A	G56571847A	DST	NM_001374736.1(DST):c.13721+253C>T	noncoding	Benign
6	56571975	T	C	T56571975C	DST	NM_001374736.1(DST):c.13721+125A>G	noncoding	Benign
6	56572223	A	G	A56572223G	DST	NM_001374736.1(DST):c.13598T>C:p.Val4533Ala	coding	Benign/Likely_benign
6	56572283	T	C	T56572283C	DST	NM_001374736.1(DST):c.13555-17A>G	noncoding	Benign/Likely_benign
6	56572438	A	C	A56572438C	DST	NM_001374736.1(DST):c.13555-172T>G	noncoding	Benign
6	56572667	T	C	T56572667C	DST	NM_001374736.1(DST):c.13554+80A>G	noncoding	Benign
6	56573104	C	T	C56573104T	DST	NM_001374736.1(DST):c.13237-40G>A	noncoding	Benign
6	56573277	C	G	C56573277G	DST	NM_001374736.1(DST):c.13237-213G>C	noncoding	Benign
6	56573903	C	T	C56573903T	DST	NM_001374736.1(DST):c.13028-16G>A	noncoding	Benign/Likely_benign
6	56578569	T	C	T56578569C	DST	NM_001374736.1(DST):c.13027+245A>G	noncoding	Benign
6	56594094	C	A	C56594094A	DST	NM_001374736.1(DST):c.12295G>T:p.Glu4099Ter	coding	Pathogenic
6	56594255	T	C	T56594255C	DST	NM_001374736.1(DST):c.12196-62A>G	noncoding	Benign
6	56597868	G	A	G56597868A	DST	NM_001374736.1(DST):c.12067C>T:p.Gln4023Ter	coding	Pathogenic
6	56598042	G	A	G56598042A	DST	NM_001374736.1(DST):c.11929-36C>T	noncoding	Benign
6	56600053	G	C	G56600053C	DST	NM_001374736.1(DST):c.11694+16C>G	noncoding	Benign
6	56600058	C	A	C56600058A	DST	NM_001374736.1(DST):c.11694+11G>T	noncoding	Benign
6	56600538	C	T	C56600538T	DST	NM_001374736.1(DST):c.11542-317G>A	noncoding	Benign
6	56610467	T	G	T56610467G	DST	NM_001374736.1(DST):c.5243A>C:p.Gln1748Pro	coding	Benign
6	56611225	G	A	G56611225A	DST	NM_001374736.1(DST):c.5147+283C>T	noncoding	Benign
6	56611464	T	C	T56611464C	DST	NM_001374736.1(DST):c.5147+44A>G	noncoding	Benign
6	56611613	G	C	G56611613C	DST	NM_001374736.1(DST):c.5059-17C>G	noncoding	Benign
6	56611658	T	A	T56611658A	DST	NM_001374736.1(DST):c.5059-62A>T	noncoding	Benign
6	56611834	A	G	A56611834G	DST	NM_001374736.1(DST):c.5059-238T>C	noncoding	Benign
6	56614105	C	T	C56614105T	DST	NM_001374736.1(DST):c.5058+251G>A	noncoding	Benign
6	56616414	G	A	G56616414A	DST	NM_001723.7(DST):c.7053C>T:p.Thr2351=	coding	Benign
6	56616494	C	A	C56616494A	DST	NM_001723.7(DST):c.6973G>T:p.Glu2325Ter	coding	Pathogenic
6	56617655	G	A	G56617655A	DST	NM_001374736.1(DST):c.4930-3171C>T	noncoding	Benign
6	56617838	G	C	G56617838C	DST	NM_001374736.1(DST):c.4930-3354C>G	noncoding	Benign
6	56617906	A	C	A56617906C	DST	NM_001374736.1(DST):c.4930-3422T>G	noncoding	Benign
6	56618180	G	A	G56618180A	DST	NM_001723.7(DST):c.5854C>T:p.Gln1952Ter	coding	Pathogenic
6	56618948	G	A	G56618948A	DST	NM_001723.7(DST):c.5086C>T:p.Arg1696Ter	coding	Pathogenic
6	56619500	G	A	G56619500A	DST	NM_001723.7(DST):c.4534C>T:p.Arg1512Ter	coding	Pathogenic
6	56620286	G	A	G56620286A	DST	NM_001723.7(DST):c.3748C>T:p.Arg1250Ter	coding	Pathogenic
6	56624246	G	A	G56624246A	DST	NM_001374736.1(DST):c.4929+284C>T	noncoding	Benign
6	56624836	C	T	C56624836T	DST	NM_001374736.1(DST):c.4831-208G>A	noncoding	Benign
6	56625195	G	A	G56625195A	DST	NM_001374736.1(DST):c.4792C>T:p.Arg1598Ter	coding	Pathogenic
6	56625313	A	G	A56625313G	DST	NM_001374736.1(DST):c.4723-49T>C	noncoding	Benign
6	56627025	G	A	G56627025A	DST	NM_001374736.1(DST):c.4722+179C>T	noncoding	Benign
6	56627042	G	A	G56627042A	DST	NM_001374736.1(DST):c.4722+162C>T	noncoding	Benign
6	56627094	A	T	A56627094T	DST	NM_001374736.1(DST):c.4722+110T>A	noncoding	Benign
6	56627153	G	C	G56627153C	DST	NM_001374736.1(DST):c.4722+51C>G	noncoding	Benign
6	56627983	A	T	A56627983T	DST	NM_001374736.1(DST):c.4638+16T>A	noncoding	Benign/Likely_benign
6	56628275	C	G	C56628275G	DST	NM_001374736.1(DST):c.4476-114G>C	noncoding	Benign
6	56629235	A	T	A56629235T	DST	NM_001374736.1(DST):c.4475+15T>A	noncoding	Benign/Likely_benign
6	56630072	C	G	C56630072G	DST	NM_001374736.1(DST):c.4281+173G>C	noncoding	Benign
6	56631404	A	C	A56631404C	DST	NM_001374736.1(DST):c.3964-15T>G	noncoding	Benign
6	56631459	G	T	G56631459T	DST	NM_001374736.1(DST):c.3964-70C>A	noncoding	Benign
6	56631536	T	C	T56631536C	DST	NM_001374736.1(DST):c.3964-147A>G	noncoding	Benign
6	56631851	A	C	A56631851C	DST	NM_001374736.1(DST):c.3963+32T>G	noncoding	Benign
6	56632291	C	T	C56632291T	DST	NM_001374736.1(DST):c.3806-251G>A	noncoding	Benign
6	56634274	G	A	G56634274A	DST	NM_001374736.1(DST):c.3495-16C>T	noncoding	Benign
6	56634275	A	G	A56634275G	DST	NM_001374736.1(DST):c.3495-17T>C	noncoding	Benign/Likely_benign
6	56634391	T	C	T56634391C	DST	NM_001374736.1(DST):c.3494+71A>G	noncoding	Benign
6	56634707	C	G	C56634707G	DST	NM_001374736.1(DST):c.3340-91G>C	noncoding	Benign
6	56635346	C	T	C56635346T	DST	NM_001374736.1(DST):c.3186+243G>A	noncoding	Benign
6	56636373	T	C	T56636373C	DST	NM_001374736.1(DST):c.3060+184A>G	noncoding	Benign
6	56636602	G	T	G56636602T	DST	NM_001374736.1(DST):c.3015C>A:p.Cys1005Ter	coding	Pathogenic
6	56641736	C	T	C56641736T	DST	NM_001374736.1(DST):c.2027+211G>A	noncoding	Benign
6	56642337	T	C	T56642337C	DST	NM_001374736.1(DST):c.1872+73A>G	noncoding	Benign
6	56645728	G	A	G56645728A	DST	NM_001374736.1(DST):c.1778+138C>T	noncoding	Benign
6	56648533	T	C	T56648533C	DST	NM_001374736.1(DST):c.1554+37A>G	noncoding	Benign
6	56650687	G	A	G56650687A	DST	NM_001374736.1(DST):c.1434+239C>T	noncoding	Benign
6	56650989	G	A	G56650989A	DST	NM_001374736.1(DST):c.1371C>T:p.Tyr457=	coding	Benign
6	56699768	A	G	A56699768G	DST	NM_001374736.1(DST):c.955-23T>C	noncoding	Benign
6	56701823	T	C	T56701823C	DST	NM_001374736.1(DST):c.954+65A>G	noncoding	Benign
6	56701832	G	A	G56701832A	DST	NM_001374736.1(DST):c.954+56C>T	noncoding	Benign
6	56702073	T	A	T56702073A	DST	NM_001374736.1(DST):c.877-108A>T	noncoding	Benign
6	56702138	T	C	T56702138C	DST	NM_001374736.1(DST):c.877-173A>G	noncoding	Benign
6	56704306	A	G	A56704306G	DST	NM_001374736.1(DST):c.751T>C:p.Leu251=	coding	Benign
6	56734969	T	C	T56734969C	DST	NM_001374736.1(DST):c.687+259A>G	noncoding	Benign
6	56735227	C	T	C56735227T	DST	NM_001374736.1(DST):c.687+1G>A	noncoding	Pathogenic
6	56735323	G	A	G56735323A	DST	NM_001374736.1(DST):c.626-34C>T	noncoding	Benign
6	56735489	G	A	G56735489A	DST	NM_001374736.1(DST):c.626-200C>T	noncoding	Benign
6	56842921	C	A	C56842921A	DST	NM_001374736.1(DST):c.625+8476G>T	noncoding	Benign
6	56843567	T	C	T56843567C	DST	NM_001374736.1(DST):c.625+7830A>G	coding	Benign
6	56843712	T	A	T56843712A	DST	NM_001374736.1(DST):c.625+7685A>T	noncoding	Benign
6	56843731	A	G	A56843731G	DST	NM_001374736.1(DST):c.625+7666T>C	noncoding	Benign
6	56843825	G	C	G56843825C	DST	NM_001374736.1(DST):c.625+7572C>G	noncoding	Benign
6	56843895	T	G	T56843895G	DST	NM_001374736.1(DST):c.625+7502A>C	noncoding	Benign
6	56851277	C	A	C56851277A	DST	NM_001374736.1(DST):c.625+120G>T	noncoding	Benign
6	56851406	G	A	G56851406A	DST	NM_001374736.1(DST):c.616C>T:p.Arg206Trp	coding	Pathogenic
6	56851414	G	T	G56851414T	DST	NM_001374736.1(DST):c.608C>A:p.Ala203Glu	coding	Pathogenic/Likely_pathogenic
6	56900474	G	A	G56900474A	DST	NM_001374736.1(DST):c.364C>T:p.Arg122Ter	coding	Pathogenic
6	56900543	C	T	C56900543T	DST	NM_001374736.1(DST):c.295G>A:p.Val99Met	coding	Benign
6	56900544	G	A	G56900544A	DST	NM_001374736.1(DST):c.294C>T:p.Pro98=	coding	Benign
6	56953737	G	A	G56953737A	DST	NM_001374736.1(DST):c.216+48C>T	noncoding	Benign
6	56953908	T	C	T56953908C	DST	NM_001374736.1(DST):c.182-89A>G	noncoding	Benign
6	56954048	G	C	G56954048C	DST	NM_001374736.1(DST):c.182-229C>G	noncoding	Benign
6	57190556	C	T	C57190556T	RAB23	NM_016277.5(RAB23):c.619G>A:p.Gly207Ser	coding	Benign/Likely_benign
6	57193890	G	A	G57193890A	RAB23	NM_016277.5(RAB23):c.526C>T:p.Gln176Ter	coding	Pathogenic
6	57194830	T	A	T57194830A	RAB23	NM_016277.5(RAB23):c.421A>T:p.Lys141Ter	coding	Pathogenic
6	57195022	T	G	T57195022G	RAB23	NM_016277.5(RAB23):c.399-170A>C	noncoding	Benign
6	57196449	C	T	C57196449T	RAB23	NM_016277.5(RAB23):c.398+1G>A	noncoding	Pathogenic
6	57210113	G	A	G57210113A	RAB23	NM_016277.5(RAB23):c.155+113C>T	noncoding	Benign
6	57210236	G	A	G57210236A	RAB23	NM_016277.5(RAB23):c.145C>T:p.Arg49Ter	coding	Pathogenic/Likely_pathogenic
6	63720854	G	C	G63720854C	EYS	NM_001142800.2(EYS):c.9177C>G:p.Tyr3059Ter	coding	Pathogenic
6	63721012	C	A	C63721012A	EYS	NM_001142800.2(EYS):c.9019G>T:p.Asp3007Tyr	coding	Pathogenic/Likely_pathogenic
6	63721115	A	C	A63721115C	EYS	NM_001142800.2(EYS):c.8916T>G:p.Tyr2972Ter	coding	Pathogenic
6	63721203	C	T	C63721203T	EYS	NM_001142800.2(EYS):c.8828G>A:p.Trp2943Ter	coding	Pathogenic
6	63721252	A	G	A63721252G	EYS	NM_001142800.2(EYS):c.8779T>C:p.Cys2927Arg	coding	Pathogenic/Likely_pathogenic
6	63721361	A	T	A63721361T	EYS	NM_001142800.2(EYS):c.8670T>A:p.Cys2890Ter	coding	Pathogenic
6	63721425	G	C	G63721425C	EYS	NM_001142800.2(EYS):c.8606C>G:p.Ser2869Ter	coding	Pathogenic/Likely_pathogenic
6	63721435	T	A	T63721435A	EYS	NM_001142800.2(EYS):c.8596A>T:p.Lys2866Ter	coding	Pathogenic
6	63721452	A	T	A63721452T	EYS	NM_001142800.2(EYS):c.8579T>A:p.Leu2860Ter	coding	Pathogenic
6	63721683	C	T	C63721683T	EYS	NM_001142800.2(EYS):c.8348G>A:p.Trp2783Ter	coding	Pathogenic
6	63721795	C	A	C63721795A	EYS	NM_001142800.2(EYS):c.8236G>T:p.Asp2746Tyr	coding	Pathogenic
6	63762377	A	C	A63762377C	EYS	NM_001142800.2(EYS):c.8071+84T>G	noncoding	Benign
6	63762633	G	T	G63762633T	EYS	NM_001142800.2(EYS):c.7899C>A:p.Tyr2633Ter	coding	Pathogenic/Likely_pathogenic
6	63778062	G	T	G63778062T	EYS	NM_001142800.2(EYS):c.7842C>A:p.Cys2614Ter	coding	Pathogenic
6	63778082	G	A	G63778082A	EYS	NM_001142800.2(EYS):c.7822C>T:p.Gln2608Ter	coding	Pathogenic
6	63788041	A	T	A63788041T	EYS	NM_001142800.2(EYS):c.7723+64T>A	noncoding	Benign/Likely_benign
6	63788103	A	C	A63788103C	EYS	NM_001142800.2(EYS):c.7723+2T>G	noncoding	Pathogenic
6	63788104	C	T	C63788104T	EYS	NM_001142800.2(EYS):c.7723+1G>A	noncoding	Pathogenic/Likely_pathogenic
6	63788231	T	A	T63788231A	EYS	NM_001142800.2(EYS):c.7597A>T:p.Lys2533Ter	coding	Pathogenic
6	63789040	G	A	G63789040A	EYS	NM_001142800.2(EYS):c.7578+18C>T	noncoding	Benign/Likely_benign
6	63789065	C	T	C63789065T	EYS	NM_001142800.2(EYS):c.7571G>A:p.Trp2524Ter	coding	Pathogenic
6	63789144	C	G	C63789144G	EYS	NM_001142800.2(EYS):c.7492G>C:p.Ala2498Pro	coding	Pathogenic
6	63806274	C	A	C63806274A	EYS	NM_001142800.2(EYS):c.7327G>T:p.Glu2443Ter	coding	Pathogenic
6	63806275	A	C	A63806275C	EYS	NM_001142800.2(EYS):c.7326T>G:p.Tyr2442Ter	coding	Pathogenic
6	63806318	G	C	G63806318C	EYS	NM_001142800.2(EYS):c.7283C>G:p.Ser2428Ter	coding	Pathogenic
6	63806318	G	T	G63806318T	EYS	NM_001142800.2(EYS):c.7283C>A:p.Ser2428Ter	coding	Pathogenic
6	63864220	G	T	G63864220T	EYS	NM_001142800.2(EYS):c.7194C>A:p.Cys2398Ter	coding	Pathogenic
6	63864360	T	G	T63864360G	EYS	NM_001142800.2(EYS):c.7056-2A>C	noncoding	Pathogenic/Likely_pathogenic
6	63984352	G	A	G63984352A	EYS	NM_001142800.2(EYS):c.7055+31C>T	noncoding	Benign
6	63984363	A	G	A63984363G	EYS	NM_001142800.2(EYS):c.7055+20T>C	noncoding	Benign
6	63984382	C	T	C63984382T	EYS	NM_001142800.2(EYS):c.7055+1G>A	noncoding	Pathogenic/Likely_pathogenic
6	63984425	C	T	C63984425T	EYS	NM_001142800.2(EYS):c.7013G>A:p.Trp2338Ter	coding	Pathogenic
6	63984667	G	A	G63984667A	EYS	NM_001142800.2(EYS):c.6835-64C>T	noncoding	Benign
6	63984727	T	C	T63984727C	EYS	NM_001142800.2(EYS):c.6835-124A>G	noncoding	Benign
6	63999014	A	C	A63999014C	EYS	NM_001142800.2(EYS):c.6834+61T>G	noncoding	Benign
6	63999140	C	A	C63999140A	EYS	NM_001142800.2(EYS):c.6769G>T:p.Glu2257Ter	coding	Pathogenic
6	63999195	A	G	A63999195G	EYS	NM_001142800.2(EYS):c.6726-12T>C	noncoding	Benign/Likely_benign
6	64230622	G	A	G64230622A	EYS	NM_001142800.2(EYS):c.6394C>T:p.Leu2132=	coding	Benign
6	64230692	G	T	G64230692T	EYS	NM_001142800.2(EYS):c.6324C>A:p.Cys2108Ter	coding	Pathogenic
6	64230743	A	G	A64230743G	EYS	NM_001142800.2(EYS):c.6273T>C:p.Thr2091=	coding	Benign
6	64306760	T	A	T64306760A	EYS	NM_001142800.2(EYS):c.6191+210A>T	noncoding	Benign
6	64306838	C	T	C64306838T	EYS	NM_001142800.2(EYS):c.6191+132G>A	noncoding	Benign
6	64306969	C	T	C64306969T	EYS	NM_001142800.2(EYS):c.6191+1G>A	noncoding	Pathogenic/Likely_pathogenic
6	64307022	T	A	T64307022A	EYS	NM_001142800.2(EYS):c.6139A>T:p.Arg2047Ter	coding	Pathogenic
6	64307105	G	T	G64307105T	EYS	NM_001142800.2(EYS):c.6079-23C>A	noncoding	Benign
6	64307164	G	T	G64307164T	EYS	NM_001142800.2(EYS):c.6079-82C>A	noncoding	Benign
6	64388622	T	C	T64388622C	EYS	NM_001142800.2(EYS):c.6078+68A>G	noncoding	Benign
6	64388718	C	A	C64388718A	EYS	NM_001142800.2(EYS):c.6050G>T:p.Gly2017Val	coding	Pathogenic
6	64388875	A	G	A64388875G	EYS	NM_001142800.2(EYS):c.5928-35T>C	noncoding	Benign
6	64436130	T	C	T64436130C	EYS	NM_001142800.2(EYS):c.5927+44A>G	noncoding	Benign
6	64436306	C	T	C64436306T	EYS	NM_001142800.2(EYS):c.5836-41G>A	noncoding	Benign
6	64439007	A	G	A64439007G	EYS	NM_001142800.2(EYS):c.5835+155T>C	noncoding	Benign
6	64590092	A	C	A64590092C	EYS	NM_001142800.2(EYS):c.5644+131T>G	noncoding	Benign
6	64590221	A	G	A64590221G	EYS	NM_001142800.2(EYS):c.5644+2T>C	noncoding	Pathogenic
6	64590340	G	A	G64590340A	EYS	NM_001142800.2(EYS):c.5527C>T:p.Gln1843Ter	coding	Pathogenic
6	64590347	C	T	C64590347T	EYS	NM_001142800.2(EYS):c.5520G>A:p.Trp1840Ter	coding	Pathogenic
6	64590356	C	T	C64590356T	EYS	NM_001142800.2(EYS):c.5511G>A:p.Trp1837Ter	coding	Pathogenic
6	64590362	T	G	T64590362G	EYS	NM_001142800.2(EYS):c.5505A>C:p.Ser1835=	coding	Benign/Likely_benign
6	64590584	A	T	A64590584T	EYS	NM_001142800.2(EYS):c.5283T>A:p.Tyr1761Ter	coding	Pathogenic
6	64590618	A	T	A64590618T	EYS	NM_001142800.2(EYS):c.5249T>A:p.Leu1750Ter	coding	Pathogenic
6	64590813	G	C	G64590813C	EYS	NM_001142800.2(EYS):c.5054C>G:p.Ser1685Ter	coding	Pathogenic
6	64591107	C	T	C64591107T	EYS	NM_001142800.2(EYS):c.4760G>A:p.Trp1587Ter	coding	Pathogenic
6	64591212	A	C	A64591212C	EYS	NM_001142800.2(EYS):c.4655T>G:p.Leu1552Ter	coding	Pathogenic
6	64591288	G	A	G64591288A	EYS	NM_001142800.2(EYS):c.4579C>T:p.Gln1527Ter	coding	Pathogenic
6	64591344	A	T	A64591344T	EYS	NM_001142800.2(EYS):c.4523T>A:p.Leu1508Ter	coding	Pathogenic
6	64591415	C	T	C64591415T	EYS	NM_001142800.2(EYS):c.4452G>A:p.Trp1484Ter	coding	Pathogenic
6	64591416	C	T	C64591416T	EYS	NM_001142800.2(EYS):c.4451G>A:p.Trp1484Ter	coding	Pathogenic
6	64591648	G	A	G64591648A	EYS	NM_001142800.2(EYS):c.4219C>T:p.Gln1407Ter	coding	Pathogenic
6	64592081	G	C	G64592081C	EYS	NM_001142800.2(EYS):c.3878-92C>G	noncoding	Benign
6	64592984	A	T	A64592984T	EYS	NM_001142800.2(EYS):c.3877+133T>A	noncoding	Benign
6	64593005	A	G	A64593005G	EYS	NM_001142800.2(EYS):c.3877+112T>C	noncoding	Benign
6	64593100	T	C	T64593100C	EYS	NM_001142800.2(EYS):c.3877+17A>G	noncoding	Benign
6	64593151	T	G	T64593151G	EYS	NM_001142800.2(EYS):c.3843A>C:p.Ile1281_Pro1282=	coding	Benign
6	64593195	C	A	C64593195A	EYS	NM_001142800.2(EYS):c.3799G>T:p.Glu1267Ter	coding	Pathogenic
6	64593488	T	C	T64593488C	EYS	NM_001142800.2(EYS):c.3685-179A>G	noncoding	Benign
6	64617426	C	A	C64617426A	EYS	NM_001142800.2(EYS):c.3676G>T:p.Gly1226Ter	coding	Pathogenic
6	64617529	C	T	C64617529T	EYS	NM_001142800.2(EYS):c.3573G>A:p.Trp1191Ter	coding	Pathogenic
6	64617539	C	A	C64617539A	EYS	NM_001142800.2(EYS):c.3569-6G>T	noncoding	Benign/Likely_benign
6	64626022	G	T	G64626022T	EYS	NM_001142800.2(EYS):c.3568+99C>A	noncoding	Benign/Likely_benign
6	64626127	G	A	G64626127A	EYS	NM_001142800.2(EYS):c.3562C>T:p.Gln1188Ter	coding	Pathogenic
6	64626186	G	T	G64626186T	EYS	NM_001142800.2(EYS):c.3503C>A:p.Ser1168Ter	coding	Pathogenic
6	64626199	C	A	C64626199A	EYS	NM_001142800.2(EYS):c.3490G>T:p.Glu1164Ter	coding	Pathogenic
6	64626331	C	T	C64626331T	EYS	NM_001142800.2(EYS):c.3444-86G>A	noncoding	Benign
6	64813218	A	C	A64813218C	EYS	NM_001142800.2(EYS):c.3443+160T>G	noncoding	Benign
6	64813380	G	T	G64813380T	EYS	NM_001142800.2(EYS):c.3441C>A:p.Cys1147Ter	coding	Pathogenic
6	64813737	C	T	C64813737T	EYS	NM_001142800.2(EYS):c.3244-160G>A	noncoding	Benign
6	64821687	A	T	A64821687T	EYS	NM_001142800.2(EYS):c.3201T>A:p.Cys1067Ter	coding	Pathogenic
6	64821716	C	A	C64821716A	EYS	NM_001142800.2(EYS):c.3172G>T:p.Glu1058Ter	coding	Pathogenic
6	64886725	G	C	G64886725C	EYS	NM_001142800.2(EYS):c.2964C>G:p.Tyr988Ter	coding	Pathogenic/Likely_pathogenic
6	64886866	G	A	G64886866A	EYS	NM_001142800.2(EYS):c.2847-24C>T	noncoding	Benign
6	64886999	T	C	T64886999C	EYS	NM_001142800.2(EYS):c.2847-157A>G	noncoding	Benign
6	64887063	G	A	G64887063A	EYS	NM_001142800.2(EYS):c.2847-221C>T	noncoding	Benign
6	64901884	C	T	C64901884T	EYS	NM_001142800.2(EYS):c.2846+229G>A	noncoding	Benign
6	64901921	T	C	T64901921C	EYS	NM_001142800.2(EYS):c.2846+192A>G	noncoding	Benign
6	64902636	C	T	C64902636T	EYS	NM_001142800.2(EYS):c.2642-136G>A	noncoding	Benign
6	64912286	T	G	T64912286G	EYS	NM_001142800.2(EYS):c.2641+198A>C	noncoding	Benign
6	64912449	T	C	T64912449C	EYS	NM_001142800.2(EYS):c.2641+35A>G	noncoding	Benign
6	64912482	A	G	A64912482G	EYS	NM_001142800.2(EYS):c.2641+2T>C	noncoding	Pathogenic
6	64912483	C	T	C64912483T	EYS	NM_001142800.2(EYS):c.2641+1G>A	noncoding	Pathogenic
6	64912487	C	A	C64912487A	EYS	NM_001142800.2(EYS):c.2638G>T:p.Glu880Ter	coding	Pathogenic
6	64912664	C	A	C64912664A	EYS	NM_001142800.2(EYS):c.2461G>T:p.Gly821Ter	coding	Pathogenic
6	64912686	G	T	G64912686T	EYS	NM_001142800.2(EYS):c.2439C>A:p.Cys813Ter	coding	Pathogenic
6	64912700	C	A	C64912700A	EYS	NM_001142800.2(EYS):c.2425G>T:p.Glu809Ter	coding	Pathogenic
6	64912769	G	C	G64912769C	EYS	NM_001142800.2(EYS):c.2382-26C>G	noncoding	Benign
6	64912876	A	G	A64912876G	EYS	NM_001142800.2(EYS):c.2382-133T>C	noncoding	Benign
6	64912943	C	A	C64912943A	EYS	NM_001142800.2(EYS):c.2382-200G>T	noncoding	Benign
6	64945804	G	C	G64945804C	EYS	NM_001142800.2(EYS):c.2370C>G:p.Tyr790Ter	coding	Pathogenic
6	64945866	G	A	G64945866A	EYS	NM_001142800.2(EYS):c.2308C>T:p.Gln770Ter	coding	Pathogenic
6	64945990	C	T	C64945990T	EYS	NM_001142800.2(EYS):c.2260-76G>A	noncoding	Benign
6	64946148	G	C	G64946148C	EYS	NM_001142800.2(EYS):c.2260-234C>G	noncoding	Benign
6	64997562	A	G	A64997562G	EYS	NM_001142800.2(EYS):c.2259+20T>C	noncoding	Benign/Likely_benign
6	64997839	C	T	C64997839T	EYS	NM_001142800.2(EYS):c.2138-136G>A	noncoding	Benign
6	65057375	T	C	T65057375C	EYS	NM_001142800.2(EYS):c.2137+239A>G	noncoding	Benign
6	65057500	G	A	G65057500A	EYS	NM_001142800.2(EYS):c.2137+114C>T	noncoding	Benign
6	65295862	C	T	C65295862T	EYS	NM_001142800.2(EYS):c.2023+1G>A	noncoding	Pathogenic
6	65295904	A	T	A65295904T	EYS	NM_001142800.2(EYS):c.1982T>A:p.Leu661Ter	coding	Pathogenic/Likely_pathogenic
6	65296193	C	T	C65296193T	EYS	NM_001142800.2(EYS):c.1767-74G>A	noncoding	Benign
6	65296255	A	C	A65296255C	EYS	NM_001142800.2(EYS):c.1767-136T>G	noncoding	Benign
6	65330627	A	T	A65330627T	EYS	NM_001142800.2(EYS):c.1766+4353T>A	coding	Benign
6	65331502	C	A	C65331502A	EYS	NM_001142800.2(EYS):c.1766+3478G>T	coding	Benign
6	65332153	A	G	A65332153G	EYS	NM_001142800.2(EYS):c.1766+2827T>C	coding	Benign
6	65332197	T	C	T65332197C	EYS	NM_001142800.2(EYS):c.1766+2783A>G	coding	Benign
6	65332202	A	C	A65332202C	EYS	NM_001142800.2(EYS):c.1766+2778T>G	coding	Benign
6	65332203	A	G	A65332203G	EYS	NM_001142800.2(EYS):c.1766+2777T>C	coding	Benign
6	65332338	T	G	T65332338G	EYS	NM_001142800.2(EYS):c.1766+2642A>C	coding	Benign
6	65332394	G	A	G65332394A	EYS	NM_001142800.2(EYS):c.1766+2586C>T	coding	Benign
6	65332665	G	A	G65332665A	EYS	NM_001142800.2(EYS):c.1766+2315C>T	noncoding	Benign
6	65332720	T	C	T65332720C	EYS	NM_001142800.2(EYS):c.1766+2260A>G	noncoding	Benign
6	65332810	C	T	C65332810T	EYS	NM_001142800.2(EYS):c.1766+2170G>A	noncoding	Benign
6	65332840	C	T	C65332840T	EYS	NM_001142800.2(EYS):c.1766+2140G>A	noncoding	Benign
6	65332903	T	G	T65332903G	EYS	NM_001142800.2(EYS):c.1766+2077A>C	noncoding	Benign
6	65332959	T	C	T65332959C	EYS	NM_001142800.2(EYS):c.1766+2021A>G	noncoding	Benign
6	65334824	T	A	T65334824A	EYS	NM_001142800.2(EYS):c.1766+156A>T	noncoding	Benign
6	65334874	A	G	A65334874G	EYS	NM_001142800.2(EYS):c.1766+106T>C	noncoding	Benign
6	65334919	T	C	T65334919C	EYS	NM_001142800.2(EYS):c.1766+61A>G	coding	Benign
6	65334996	C	A	C65334996A	EYS	NM_001142800.2(EYS):c.1750G>T:p.Glu584Ter	coding	Pathogenic
6	65335184	C	T	C65335184T	EYS	NM_001142800.2(EYS):c.1600-38G>A	noncoding	Benign
6	65343858	G	A	G65343858A	EYS	NM_001142800.2(EYS):c.1599+180C>T	noncoding	Benign
6	65343942	T	G	T65343942G	EYS	NM_001142800.2(EYS):c.1599+96A>C	noncoding	Benign
6	65344116	G	T	G65344116T	EYS	NM_001142800.2(EYS):c.1521C>A:p.Cys507Ter	coding	Pathogenic
6	65344157	G	A	G65344157A	EYS	NM_001142800.2(EYS):c.1480C>T:p.Gln494Ter	coding	Pathogenic
6	65344197	A	C	A65344197C	EYS	NM_001142800.2(EYS):c.1460-20T>G	noncoding	Benign
6	65353355	G	A	G65353355A	EYS	NM_001142800.2(EYS):c.1459+103C>T	noncoding	Benign
6	65353438	A	T	A65353438T	EYS	NM_001142800.2(EYS):c.1459+20T>A	noncoding	Benign
6	65402594	G	T	G65402594T	EYS	NM_001142800.2(EYS):c.1068C>A:p.Cys356Ter	coding	Pathogenic/Likely_pathogenic
6	65405263	C	A	C65405263A	EYS	NM_001142800.2(EYS):c.967G>T:p.Gly323Ter	coding	Pathogenic/Likely_pathogenic
6	65490507	A	G	A65490507G	EYS	NM_001142800.2(EYS):c.862+87T>C	noncoding	Benign
6	65490646	G	T	G65490646T	EYS	NM_001142800.2(EYS):c.810C>A:p.Cys270Ter	coding	Pathogenic
6	65494438	C	T	C65494438T	EYS	NM_001142800.2(EYS):c.748+225G>A	noncoding	Benign
6	65494611	A	G	A65494611G	EYS	NM_001142800.2(EYS):c.748+52T>C	noncoding	Benign
6	65494699	G	A	G65494699A	EYS	NM_001142800.2(EYS):c.712C>T:p.Gln238Ter	coding	Pathogenic
6	65494714	C	A	C65494714A	EYS	NM_001142800.2(EYS):c.697G>T:p.Glu233Ter	coding	Pathogenic
6	65494727	G	T	G65494727T	EYS	NM_001142800.2(EYS):c.684C>A:p.Cys228Ter	coding	Pathogenic
6	65494781	G	C	G65494781C	EYS	NM_001142800.2(EYS):c.630C>G:p.Tyr210Ter	coding	Pathogenic
6	65494781	G	T	G65494781T	EYS	NM_001142800.2(EYS):c.630C>A:p.Tyr210Ter	coding	Pathogenic
6	65494804	G	A	G65494804A	EYS	NM_001142800.2(EYS):c.607C>T:p.Gln203Ter	coding	Pathogenic
6	65494885	C	A	C65494885A	EYS	NM_001142800.2(EYS):c.526G>T:p.Glu176Ter	coding	Pathogenic
6	65494897	G	A	G65494897A	EYS	NM_001142800.2(EYS):c.514C>T:p.Gln172Ter	coding	Pathogenic
6	65494900	G	A	G65494900A	EYS	NM_001142800.2(EYS):c.511C>T:p.Gln171Ter	coding	Pathogenic
6	65495069	A	T	A65495069T	EYS	NM_001142800.2(EYS):c.342T>A:p.Cys114Ter	coding	Pathogenic
6	65495122	G	A	G65495122A	EYS	NM_001142800.2(EYS):c.289C>T:p.Gln97Ter	coding	Pathogenic
6	65495237	C	T	C65495237T	EYS	NM_001142800.2(EYS):c.174G>A:p.Trp58Ter	coding	Pathogenic
6	65495238	C	T	C65495238T	EYS	NM_001142800.2(EYS):c.173G>A:p.Trp58Ter	coding	Pathogenic
6	65495320	C	A	C65495320A	EYS	NM_001142800.2(EYS):c.91G>T:p.Glu31Ter	coding	Pathogenic
6	65495397	G	T	G65495397T	EYS	NM_001142800.2(EYS):c.14C>A:p.Ser5Ter	coding	Pathogenic
6	65495488	A	T	A65495488T	EYS	NM_001142800.2(EYS):c.-78T>A	noncoding	Benign
6	65495693	A	G	A65495693G	EYS	NM_001142800.2(EYS):c.-197-86T>C	noncoding	Benign
6	65495776	A	T	A65495776T	EYS	NM_001142800.2(EYS):c.-198+83T>A	noncoding	Benign
6	65640015	T	G	T65640015G	EYS	NM_001142800.2(EYS):c.-447-123A>C	noncoding	Benign
6	65707002	T	G	T65707002G	EYS	NM_001142800.2(EYS):c.-448+133A>C	noncoding	Benign
6	69676288	G	A	G69676288A	LMBRD1	NM_018368.4(LMBRD1):c.1510-17C>T	noncoding	Benign/Likely_benign
6	69676355	A	G	A69676355G	LMBRD1	NM_018368.4(LMBRD1):c.1510-84T>C	noncoding	Benign
6	69676430	C	G	C69676430G	LMBRD1	NM_018368.4(LMBRD1):c.1509+20G>C	noncoding	Benign
6	69676431	G	A	G69676431A	LMBRD1	NM_018368.4(LMBRD1):c.1509+19C>T	noncoding	Benign/Likely_benign
6	69676761	A	G	A69676761G	LMBRD1	NM_018368.4(LMBRD1):c.1418-220T>C	noncoding	Benign
6	69697424	A	T	A69697424T	LMBRD1	NM_018368.4(LMBRD1):c.1417+139T>A	noncoding	Benign
6	69697642	C	A	C69697642A	LMBRD1	NM_018368.4(LMBRD1):c.1339-1G>T	coding	Pathogenic
6	69697865	T	C	T69697865C	LMBRD1	NM_018368.4(LMBRD1):c.1339-224A>G	noncoding	Benign
6	69699267	G	C	G69699267C	LMBRD1	NM_018368.4(LMBRD1):c.1189-75C>G	noncoding	Benign
6	69700424	A	G	A69700424G	LMBRD1	NM_018368.4(LMBRD1):c.1188+341T>C	noncoding	Benign
6	69700551	G	T	G69700551T	LMBRD1	NM_018368.4(LMBRD1):c.1188+214C>A	noncoding	Benign
6	69701265	G	A	G69701265A	LMBRD1	NM_018368.4(LMBRD1):c.1083+178C>T	noncoding	Benign
6	69713847	A	G	A69713847G	LMBRD1	NM_018368.4(LMBRD1):c.763-50T>C	noncoding	Benign/Likely_benign
6	69718968	C	T	C69718968T	LMBRD1	NM_018368.4(LMBRD1):c.750G>A:p.Thr250=	coding	Benign
6	69719361	C	T	C69719361T	LMBRD1	NM_018368.4(LMBRD1):c.637-280G>A	noncoding	Benign
6	69737653	G	A	G69737653A	LMBRD1	NM_018368.4(LMBRD1):c.636+289C>T	noncoding	Benign
6	69737928	C	A	C69737928A	LMBRD1	NM_018368.4(LMBRD1):c.636+14G>T	noncoding	Benign/Likely_benign
6	69738101	G	T	G69738101T	LMBRD1	NM_018368.4(LMBRD1):c.563-86C>A	noncoding	Benign
6	69738141	C	T	C69738141T	LMBRD1	NM_018368.4(LMBRD1):c.563-126G>A	noncoding	Benign
6	69738206	T	C	T69738206C	LMBRD1	NM_018368.4(LMBRD1):c.563-191A>G	noncoding	Benign
6	69741771	A	T	A69741771T	LMBRD1	NM_018368.4(LMBRD1):c.562+18T>A	noncoding	Benign/Likely_benign
6	69749278	A	T	A69749278T	LMBRD1	NM_018368.4(LMBRD1):c.473+63T>A	noncoding	Benign
6	69749544	C	T	C69749544T	LMBRD1	NM_018368.4(LMBRD1):c.406-136G>A	noncoding	Benign
6	69780619	A	G	A69780619G	LMBRD1	NM_018368.4(LMBRD1):c.247-65T>C	noncoding	Benign
6	69780636	A	G	A69780636G	LMBRD1	NM_018368.4(LMBRD1):c.247-82T>C	noncoding	Benign
6	69790098	G	C	G69790098C	LMBRD1	NM_018368.4(LMBRD1):c.246+198C>G	noncoding	Benign
6	69790226	A	G	A69790226G	LMBRD1	NM_018368.4(LMBRD1):c.246+70T>C	noncoding	Benign
6	69790228	G	A	G69790228A	LMBRD1	NM_018368.4(LMBRD1):c.246+68C>T	noncoding	Benign
6	69790559	C	A	C69790559A	LMBRD1	NM_018368.4(LMBRD1):c.70-87G>T	noncoding	Benign
6	69790571	T	G	T69790571G	LMBRD1	NM_018368.4(LMBRD1):c.70-99A>C	noncoding	Benign
6	69790626	A	G	A69790626G	LMBRD1	NM_018368.4(LMBRD1):c.70-154T>C	noncoding	Benign
6	69790665	C	T	C69790665T	LMBRD1	NM_018368.4(LMBRD1):c.70-193G>A	noncoding	Benign
6	69796603	T	C	T69796603C	LMBRD1	NM_018368.4(LMBRD1):c.69+210A>G	noncoding	Benign
6	69797131	C	G	C69797131G	LMBRD1	NM_018368.3(LMBRD1):c.-250G>C	noncoding	Benign/Likely_benign
6	69797227	T	C	T69797227C	LMBRD1	Single_allele	noncoding	Benign
6	69797241	C	G	C69797241G	LMBRD1	Single_allele	noncoding	Benign
6	69879738	G	C	G69879738C	COL19A1	NM_001858.6(COL19A1):c.91+80G>C	noncoding	Benign
6	69879819	T	A	T69879819A	COL19A1	NM_001858.6(COL19A1):c.91+161T>A	noncoding	Benign
6	69879831	A	G	A69879831G	COL19A1	NM_001858.6(COL19A1):c.91+173A>G	noncoding	Benign
6	69900391	C	T	C69900391T	COL19A1	NM_001858.6(COL19A1):c.266+53C>T	noncoding	Benign
6	69930005	A	T	A69930005T	COL19A1	NM_001858.6(COL19A1):c.666+305A>T	noncoding	Benign
6	69932730	T	C	T69932730C	COL19A1	NM_001858.6(COL19A1):c.667-53T>C	noncoding	Benign
6	69932768	C	T	C69932768T	COL19A1	NM_001858.6(COL19A1):c.667-15C>T	noncoding	Benign
6	69933126	A	G	A69933126G	COL19A1	NM_001858.6(COL19A1):c.747+263A>G	noncoding	Benign
6	69937762	C	T	C69937762T	COL19A1	NM_001858.6(COL19A1):c.874-276C>T	noncoding	Benign
6	69938219	A	G	A69938219G	COL19A1	NM_001858.6(COL19A1):c.936+119A>G	noncoding	Benign
6	69962649	T	C	T69962649C	COL19A1	NM_001858.6(COL19A1):c.982-177T>C	noncoding	Benign
6	69962935	A	G	A69962935G	COL19A1	NM_001858.6(COL19A1):c.1026+65A>G	noncoding	Benign
6	69963010	C	T	C69963010T	COL19A1	NM_001858.6(COL19A1):c.1026+140C>T	noncoding	Benign
6	70023655	C	G	C70023655G	COL19A1	NM_001858.6(COL19A1):c.1055C>G:p.Ala352Gly	coding	Benign
6	70023824	G	A	G70023824A	COL19A1	NM_001858.6(COL19A1):c.1080+144G>A	noncoding	Benign
6	70033950	G	C	G70033950C	COL19A1	NM_001858.6(COL19A1):c.1081-295G>C	noncoding	Benign
6	70034372	G	C	G70034372C	COL19A1	NM_001858.6(COL19A1):c.1134+74G>C	noncoding	Benign
6	70034509	G	T	G70034509T	COL19A1	NM_001858.6(COL19A1):c.1134+211G>T	noncoding	Benign
6	70035804	A	G	A70035804G	COL19A1	NM_001858.6(COL19A1):c.1135-100A>G	noncoding	Benign
6	70036086	A	G	A70036086G	COL19A1	NM_001858.6(COL19A1):c.1170+147A>G	noncoding	Benign
6	70036206	A	G	A70036206G	COL19A1	NM_001858.6(COL19A1):c.1170+267A>G	noncoding	Benign
6	70068405	G	A	G70068405A	COL19A1	NM_001858.6(COL19A1):c.1171-18G>A	noncoding	Benign
6	70068486	G	C	G70068486C	COL19A1	NM_001858.6(COL19A1):c.1224+10G>C	noncoding	Benign
6	70068487	C	T	C70068487T	COL19A1	NM_001858.6(COL19A1):c.1224+11C>T	noncoding	Benign
6	70068589	T	C	T70068589C	COL19A1	NM_001858.6(COL19A1):c.1224+113T>C	noncoding	Benign
6	70102231	A	G	A70102231G	COL19A1	NM_001858.6(COL19A1):c.1278+9A>G	noncoding	Benign
6	70102381	A	G	A70102381G	COL19A1	NM_001858.6(COL19A1):c.1278+159A>G	noncoding	Benign
6	70130232	A	T	A70130232T	COL19A1	NM_001858.6(COL19A1):c.1383+9A>T	noncoding	Benign
6	70130450	T	C	T70130450C	COL19A1	NM_001858.6(COL19A1):c.1383+227T>C	noncoding	Benign
6	70137493	C	T	C70137493T	COL19A1	NM_001858.6(COL19A1):c.1384-192C>T	noncoding	Benign
6	70142181	C	T	C70142181T	COL19A1	NM_001858.6(COL19A1):c.1572+105C>T	noncoding	Benign
6	70142601	A	G	A70142601G	COL19A1	NM_001858.6(COL19A1):c.1573-166A>G	noncoding	Benign
6	70142949	A	T	A70142949T	COL19A1	NM_001858.6(COL19A1):c.1626+129A>T	noncoding	Benign
6	70144291	A	G	A70144291G	COL19A1	NM_001858.6(COL19A1):c.1680+28A>G	noncoding	Benign
6	70144844	T	C	T70144844C	COL19A1	NM_001858.6(COL19A1):c.1681-74T>C	noncoding	Benign
6	70144926	G	A	G70144926A	COL19A1	NM_001858.6(COL19A1):c.1689G>A:p.Pro563=	coding	Benign
6	70146644	C	T	C70146644T	COL19A1	NM_001858.6(COL19A1):c.1771-15C>T	noncoding	Benign
6	70146765	T	C	T70146765C	COL19A1	NM_001858.6(COL19A1):c.1816-47T>C	noncoding	Benign
6	70146766	G	A	G70146766A	COL19A1	NM_001858.6(COL19A1):c.1816-46G>A	noncoding	Benign
6	70147116	G	T	G70147116T	COL19A1	NM_001858.6(COL19A1):c.1893+227G>T	noncoding	Benign
6	70149595	A	T	A70149595T	COL19A1	NM_001858.6(COL19A1):c.1894-109A>T	noncoding	Benign
6	70151243	T	G	T70151243G	COL19A1	NM_001858.6(COL19A1):c.2038-154T>G	noncoding	Benign
6	70151595	A	G	A70151595G	COL19A1	NM_001858.6(COL19A1):c.2079+157A>G	noncoding	Benign
6	70151752	C	T	C70151752T	COL19A1	NM_001858.6(COL19A1):c.2079+314C>T	noncoding	Benign
6	70156529	T	C	T70156529C	COL19A1	NM_001858.6(COL19A1):c.2239-141T>C	noncoding	Benign
6	70156717	C	T	C70156717T	COL19A1	NM_001858.6(COL19A1):c.2286C>T:p.Gly762=	coding	Benign
6	70161791	C	T	C70161791T	COL19A1	NM_001858.6(COL19A1):c.2293-109C>T	noncoding	Benign
6	70163439	G	A	G70163439A	COL19A1	NM_001858.6(COL19A1):c.2400+43G>A	noncoding	Benign
6	70166084	T	G	T70166084G	COL19A1	NM_001858.6(COL19A1):c.2445+99T>G	noncoding	Benign
6	70166154	T	C	T70166154C	COL19A1	NM_001858.6(COL19A1):c.2445+169T>C	noncoding	Benign
6	70168088	G	A	G70168088A	COL19A1	NM_001858.6(COL19A1):c.2496+13G>A	noncoding	Benign
6	70168264	A	G	A70168264G	COL19A1	NM_001858.6(COL19A1):c.2541+49A>G	noncoding	Benign
6	70168306	C	T	C70168306T	COL19A1	NM_001858.6(COL19A1):c.2541+91C>T	noncoding	Benign
6	70168974	T	C	T70168974C	COL19A1	NM_001858.6(COL19A1):c.2568+293T>C	noncoding	Benign
6	70168977	T	C	T70168977C	COL19A1	NM_001858.6(COL19A1):c.2568+296T>C	noncoding	Benign
6	70171891	C	G	C70171891G	COL19A1	NM_001858.6(COL19A1):c.2569-73C>G	noncoding	Benign
6	70176851	T	A	T70176851A	COL19A1	NM_001858.6(COL19A1):c.2667+287T>A	noncoding	Benign
6	70180088	G	A	G70180088A	COL19A1	NM_001858.6(COL19A1):c.2668-224G>A	noncoding	Benign
6	70180221	C	T	C70180221T	COL19A1	NM_001858.6(COL19A1):c.2668-91C>T	noncoding	Benign
6	70180332	G	A	G70180332A	COL19A1	NM_001858.6(COL19A1):c.2688G>A:p.Gly896=	coding	Benign
6	70184431	G	A	G70184431A	COL19A1	NM_001858.6(COL19A1):c.2776-272G>A	noncoding	Benign
6	70185002	C	A	C70185002A	COL19A1	NM_001858.6(COL19A1):c.2856+87C>A	noncoding	Benign
6	70185017	A	T	A70185017T	COL19A1	NM_001858.6(COL19A1):c.2856+102A>T	noncoding	Benign
6	70185022	A	G	A70185022G	COL19A1	NM_001858.6(COL19A1):c.2856+107A>G	noncoding	Benign
6	70185146	G	A	G70185146A	COL19A1	NM_001858.6(COL19A1):c.2856+231G>A	noncoding	Benign
6	70185182	T	C	T70185182C	COL19A1	NM_001858.6(COL19A1):c.2856+267T>C	noncoding	Benign
6	70187813	A	T	A70187813T	COL19A1	NM_001858.6(COL19A1):c.2857-262A>T	noncoding	Benign
6	70187994	A	G	A70187994G	COL19A1	NM_001858.6(COL19A1):c.2857-81A>G	noncoding	Benign
6	70188263	G	A	G70188263A	COL19A1	NM_001858.6(COL19A1):c.3027+18G>A	noncoding	Benign
6	70199369	G	A	G70199369A	COL19A1	NM_001858.6(COL19A1):c.3095-239G>A	noncoding	Benign
6	70199831	T	A	T70199831A	COL19A1	NM_001858.6(COL19A1):c.3223+95T>A	noncoding	Benign
6	70199882	T	C	T70199882C	COL19A1	NM_001858.6(COL19A1):c.3223+146T>C	noncoding	Benign
6	70200059	T	C	T70200059C	COL19A1	NM_001858.6(COL19A1):c.3223+323T>C	noncoding	Benign
6	70206697	T	A	T70206697A	COL19A1	NM_001858.6(COL19A1):c.3224-204T>A	noncoding	Benign
6	70206871	G	A	G70206871A	COL19A1	NM_001858.6(COL19A1):c.3224-30G>A	noncoding	Benign
6	70207184	A	C	A70207184C	COL19A1	NM_001858.6(COL19A1):c.3339A>C:p.Pro1113=	coding	Benign
6	70207294	G	A	G70207294A	COL19A1	NM_001858.6(COL19A1):c.*20G>A	noncoding	Benign
6	70216631	A	G	A70216631G	COL9A1	NM_001851.6(COL9A1):c.*266T>C	noncoding	Benign
6	70216668	A	G	A70216668G	COL9A1	NM_001851.6(COL9A1):c.*229T>C	noncoding	Benign
6	70217195	G	A	G70217195A	COL9A1	NM_001851.6(COL9A1):c.2582-114C>T	noncoding	Benign
6	70217230	G	C	G70217230C	COL9A1	NM_001851.6(COL9A1):c.2582-149C>G	noncoding	Benign
6	70226056	T	C	T70226056C	COL9A1	NM_001851.6(COL9A1):c.2504-47A>G	noncoding	Benign
6	70232514	G	A	G70232514A	COL9A1	NM_001851.6(COL9A1):c.2503+69C>T	noncoding	Benign
6	70232957	T	G	T70232957G	COL9A1	NM_001851.6(COL9A1):c.2315-186A>C	noncoding	Benign
6	70234304	C	A	C70234304A	COL9A1	NM_001851.6(COL9A1):c.2314+235G>T	noncoding	Benign
6	70234420	G	C	G70234420C	COL9A1	NM_001851.6(COL9A1):c.2314+119C>G	noncoding	Benign
6	70234739	G	C	G70234739C	COL9A1	NM_001851.6(COL9A1):c.2259+55C>G	noncoding	Benign
6	70234805	G	A	G70234805A	COL9A1	NM_001851.6(COL9A1):c.2248C>T:p.Gln750Ter	coding	Pathogenic
6	70234959	C	T	C70234959T	COL9A1	NM_001851.6(COL9A1):c.2113-19G>A	noncoding	Benign/Likely_benign
6	70235030	G	A	G70235030A	COL9A1	NM_001851.6(COL9A1):c.2113-90C>T	noncoding	Benign
6	70235122	C	T	C70235122T	COL9A1	NM_001851.6(COL9A1):c.2113-182G>A	noncoding	Benign
6	70239185	A	G	A70239185G	COL9A1	NM_001851.6(COL9A1):c.2112+69T>C	noncoding	Benign
6	70239316	A	G	A70239316G	COL9A1	NM_001851.6(COL9A1):c.2080-30T>C	noncoding	Benign
6	70239376	A	G	A70239376G	COL9A1	NM_001851.6(COL9A1):c.2080-90T>C	noncoding	Benign
6	70239404	C	T	C70239404T	COL9A1	NM_001851.6(COL9A1):c.2080-118G>A	noncoding	Benign
6	70240652	T	C	T70240652C	COL9A1	NM_001851.6(COL9A1):c.2079+37A>G	noncoding	Benign
6	70240895	T	C	T70240895C	COL9A1	NM_001851.6(COL9A1):c.2035-162A>G	noncoding	Benign
6	70241176	G	C	G70241176C	COL9A1	NM_001851.6(COL9A1):c.2034+243C>G	noncoding	Benign
6	70241242	T	C	T70241242C	COL9A1	NM_001851.6(COL9A1):c.2034+177A>G	noncoding	Benign
6	70241537	A	G	A70241537G	COL9A1	NM_001851.6(COL9A1):c.1999-83T>C	noncoding	Benign
6	70241740	C	A	C70241740A	COL9A1	NM_001851.6(COL9A1):c.1998+224G>T	noncoding	Benign
6	70241744	C	A	C70241744A	COL9A1	NM_001851.6(COL9A1):c.1998+220G>T	noncoding	Benign
6	70252140	G	A	G70252140A	COL9A1	NM_001851.6(COL9A1):c.1852C>T:p.Arg618Ter	coding	Pathogenic
6	70252461	T	C	T70252461C	COL9A1	NM_001851.6(COL9A1):c.1765-146A>G	noncoding	Benign
6	70252478	C	T	C70252478T	COL9A1	NM_001851.6(COL9A1):c.1765-163G>A	noncoding	Benign
6	70253440	A	G	A70253440G	COL9A1	NM_001851.6(COL9A1):c.1720-11T>C	noncoding	Benign/Likely_benign
6	70253529	A	G	A70253529G	COL9A1	NM_001851.6(COL9A1):c.1720-100T>C	noncoding	Benign
6	70253544	T	C	T70253544C	COL9A1	NM_001851.6(COL9A1):c.1720-115A>G	noncoding	Benign
6	70253576	T	C	T70253576C	COL9A1	NM_001851.6(COL9A1):c.1720-147A>G	noncoding	Benign
6	70254238	A	T	A70254238T	COL9A1	NM_001851.6(COL9A1):c.1719+238T>A	noncoding	Benign
6	70254354	T	C	T70254354C	COL9A1	NM_001851.6(COL9A1):c.1719+122A>G	noncoding	Benign
6	70254594	G	A	G70254594A	COL9A1	NM_001851.6(COL9A1):c.1666-65C>T	noncoding	Benign
6	70254909	T	C	T70254909C	COL9A1	NM_001851.6(COL9A1):c.1665+54A>G	noncoding	Benign
6	70254950	T	A	T70254950A	COL9A1	NM_001851.6(COL9A1):c.1665+13A>T	noncoding	Benign/Likely_benign
6	70255409	T	G	T70255409G	COL9A1	NM_001851.6(COL9A1):c.1504-19A>C	noncoding	Benign/Likely_benign
6	70257027	A	G	A70257027G	COL9A1	NM_001851.6(COL9A1):c.1450-206T>C	noncoding	Benign
6	70260596	C	T	C70260596T	COL9A1	NM_001851.6(COL9A1):c.1449+61G>A	noncoding	Benign
6	70263111	G	A	G70263111A	COL9A1	NM_001851.6(COL9A1):c.1395+133C>T	noncoding	Benign
6	70263230	A	T	A70263230T	COL9A1	NM_001851.6(COL9A1):c.1395+14T>A	noncoding	Benign/Likely_benign
6	70263324	G	A	G70263324A	COL9A1	NM_001851.6(COL9A1):c.1342-27C>T	noncoding	Benign
6	70266728	G	A	G70266728A	COL9A1	NM_001851.6(COL9A1):c.1330C>T:p.Gln444Ter	coding	Pathogenic
6	70266835	A	G	A70266835G	COL9A1	NM_001851.6(COL9A1):c.1288-65T>C	noncoding	Benign
6	70268939	C	A	C70268939A	COL9A1	NM_001851.6(COL9A1):c.1231-79G>T	noncoding	Benign
6	70269001	C	T	C70269001T	COL9A1	NM_001851.6(COL9A1):c.1231-141G>A	noncoding	Benign
6	70269341	G	A	G70269341A	COL9A1	NM_001851.6(COL9A1):c.1230+292C>T	noncoding	Benign
6	70269422	A	G	A70269422G	COL9A1	NM_001851.6(COL9A1):c.1230+211T>C	noncoding	Benign
6	70269490	C	T	C70269490T	COL9A1	NM_001851.6(COL9A1):c.1230+143G>A	noncoding	Benign
6	70269888	C	T	C70269888T	COL9A1	NM_001851.6(COL9A1):c.1198-223G>A	noncoding	Benign
6	70269897	A	G	A70269897G	COL9A1	NM_001851.6(COL9A1):c.1198-232T>C	noncoding	Benign
6	70270387	C	T	C70270387T	COL9A1	NM_001851.6(COL9A1):c.1144-20G>A	noncoding	Benign/Likely_benign
6	70270544	A	G	A70270544G	COL9A1	NM_001851.6(COL9A1):c.1144-177T>C	noncoding	Benign
6	70271678	C	A	C70271678A	COL9A1	NM_001851.6(COL9A1):c.1120G>T:p.Glu374Ter	coding	Pathogenic/Likely_pathogenic
6	70272056	G	C	G70272056C	COL9A1	NM_001851.6(COL9A1):c.1089+9C>G	noncoding	Benign/Likely_benign
6	70272108	A	G	A70272108G	COL9A1	NM_001851.6(COL9A1):c.1066-20T>C	noncoding	Benign
6	70273972	T	A	T70273972A	COL9A1	NM_001851.6(COL9A1):c.1065+75A>T	noncoding	Benign
6	70274859	T	C	T70274859C	COL9A1	NM_001851.6(COL9A1):c.976-87A>G	noncoding	Benign
6	70274860	G	A	G70274860A	COL9A1	NM_001851.6(COL9A1):c.976-88C>T	noncoding	Benign
6	70280680	A	T	A70280680T	COL9A1	NM_001851.6(COL9A1):c.975+132T>A	noncoding	Benign
6	70282887	C	G	C70282887G	COL9A1	NM_001851.6(COL9A1):c.801+11G>C	noncoding	Benign/Likely_benign
6	70282900	C	A	C70282900A	COL9A1	NM_001851.6(COL9A1):c.799G>T:p.Glu267Ter	coding	Pathogenic
6	70294189	T	A	T70294189A	COL9A1	NM_001851.6(COL9A1):c.674A>T:p.Asp225Val	coding	Benign/Likely_benign
6	70300029	T	G	T70300029G	COL9A1	NM_001851.6(COL9A1):c.299+14A>C	noncoding	Benign/Likely_benign
6	70302030	C	T	C70302030T	COL9A1	NM_001851.6(COL9A1):c.59G>A:p.Trp20Ter	coding	Pathogenic
6	70302128	C	T	C70302128T	COL9A1	NM_001851.6(COL9A1):c.15-54G>A	noncoding	Benign
6	70302208	T	C	T70302208C	COL9A1	NM_001851.6(COL9A1):c.15-134A>G	noncoding	Benign
6	70302911	C	T	C70302911T	COL9A1	NM_001851.6(COL9A1):c.14G>A:p.Trp5Ter	coding	Pathogenic
6	70303031	T	C	T70303031C	COL9A1	NM_001851.6(COL9A1):c.-107A>G	noncoding	Benign
6	70836999	C	T	C70836999T	SMAP1	NM_001044305.3(SMAP1):c.635C>T:p.Ala212Val	coding	Benign
6	71887062	C	G	C71887062G	RIMS1	NM_014989.7(RIMS1):c.39C>G:p.Pro13=	coding	Benign/Likely_benign
6	72097138	C	A	C72097138A	RIMS1	NM_014989.7(RIMS1):c.435C>A:p.Gly145=	coding	Benign
6	72099938	C	T	C72099938T	RIMS1	NM_014989.7(RIMS1):c.460-37C>T	noncoding	Benign
6	72179928	T	A	T72179928A	RIMS1	NM_014989.7(RIMS1):c.812+13T>A	noncoding	Benign
6	72180008	G	A	G72180008A	RIMS1	NM_014989.7(RIMS1):c.812+93G>A	noncoding	Benign
6	72182833	T	C	T72182833C	RIMS1	NM_014989.7(RIMS1):c.1362T>C:p.His454=	coding	Benign
6	72213208	G	A	G72213208A	RIMS1	NM_014989.7(RIMS1):c.1679-20565G>A	coding	Benign
6	72259185	A	T	A72259185T	RIMS1	NM_014989.7(RIMS1):c.3053+74A>T	noncoding	Benign
6	72264968	G	A	G72264968A	RIMS1	NM_014989.7(RIMS1):c.3117-7G>A	noncoding	Benign
6	72274511	A	T	A72274511T	RIMS1	NM_014989.7(RIMS1):c.3482+79A>T	noncoding	Benign
6	72290588	G	A	G72290588A	RIMS1	NM_014989.7(RIMS1):c.3555-91G>A	noncoding	Benign
6	72392791	C	T	C72392791T	RIMS1	NM_014989.7(RIMS1):c.4599C>T:p.Thr1533=	coding	Benign/Likely_benign
6	72622211	G	A	G72622211A	KCNQ5	NM_019842.4(KCNQ5):c.22G>A:p.Gly8Arg	coding	Benign
6	72622312	C	G	C72622312G	KCNQ5	NM_019842.4(KCNQ5):c.123C>G:p.Ser41=	coding	Benign
6	72622353	G	T	G72622353T	KCNQ5	NM_019842.4(KCNQ5):c.164G>T:p.Gly55Val	coding	Benign
6	72622393	C	G	C72622393G	KCNQ5	NM_019842.4(KCNQ5):c.204C>G:p.Leu68=	coding	Benign
6	72622393	C	T	C72622393T	KCNQ5	NM_019842.4(KCNQ5):c.204C>T:p.Leu68=	coding	Benign
6	72622413	T	C	T72622413C	KCNQ5	NM_019842.4(KCNQ5):c.224T>C:p.Leu75Pro	coding	Benign
6	72622422	G	C	G72622422C	KCNQ5	NM_019842.4(KCNQ5):c.233G>C:p.Ser78Thr	coding	Benign
6	72622425	G	T	G72622425T	KCNQ5	NM_019842.4(KCNQ5):c.236G>T:p.Arg79Leu	coding	Benign
6	73041992	G	A	G73041992A	KCNQ5	NM_019842.4(KCNQ5):c.546G>A:p.Ala182=	coding	Benign/Likely_benign
6	73042006	G	A	G73042006A	KCNQ5	NM_019842.4(KCNQ5):c.560G>A:p.Arg187Gln	coding	Pathogenic
6	73042076	T	C	T73042076C	KCNQ5	NM_019842.4(KCNQ5):c.616+14T>C	noncoding	Benign
6	73043156	G	A	G73043156A	KCNQ5	NM_019842.4(KCNQ5):c.616+1094G>A	noncoding	Benign
6	73077435	C	T	C73077435T	KCNQ5	NM_019842.4(KCNQ5):c.730C>T:p.Arg244Cys	coding	Pathogenic
6	73105254	T	C	T73105254C	KCNQ5	NM_019842.4(KCNQ5):c.919-3T>C	noncoding	Benign
6	73111290	T	A	T73111290A	KCNQ5	NM_019842.4(KCNQ5):c.1030-18T>A	noncoding	Benign
6	73111383	C	T	C73111383T	KCNQ5	NM_019842.4(KCNQ5):c.1105C>T:p.Pro369Ser	coding	Pathogenic
6	73124528	C	T	C73124528T	KCNQ5	NM_019842.4(KCNQ5):c.1247+16C>T	noncoding	Benign
6	73133477	T	A	T73133477A	KCNQ5	NM_019842.4(KCNQ5):c.1304T>A:p.Ile435Asn	coding	Benign
6	73133484	C	T	C73133484T	KCNQ5	NM_019842.4(KCNQ5):c.1311C>T:p.Ser437=	coding	Benign
6	73133485	C	G	C73133485G	KCNQ5	NM_019842.4(KCNQ5):c.1312C>G:p.Arg438Gly	coding	Benign
6	73133524	G	A	G73133524A	KCNQ5	NM_019842.4(KCNQ5):c.1351G>A:p.Asp451Asn	coding	Benign
6	73133531	C	T	C73133531T	KCNQ5	NM_019842.4(KCNQ5):c.1358C>T:p.Thr453Ile	coding	Benign
6	73190615	A	G	A73190615G	KCNQ5	NM_019842.4(KCNQ5):c.1620A>G:p.Thr540=	coding	Benign
6	73190648	A	G	A73190648G	KCNQ5	NM_019842.4(KCNQ5):c.1653A>G:p.Glu551=	coding	Benign
6	73190684	A	G	A73190684G	KCNQ5	NM_019842.4(KCNQ5):c.1689A>G:p.Arg563=	coding	Benign
6	73192597	C	T	C73192597T	KCNQ5	NM_019842.4(KCNQ5):c.1742C>T:p.Thr581Ile	coding	Benign
6	73192664	C	T	C73192664T	KCNQ5	NM_019842.4(KCNQ5):c.1809C>T:p.Leu603=	coding	Benign
6	73192679	G	A	G73192679A	KCNQ5	NM_019842.4(KCNQ5):c.1824G>A:p.Lys608=	coding	Benign
6	73194466	A	G	A73194466G	KCNQ5	NM_019842.4(KCNQ5):c.1851A>G:p.Glu617=	coding	Benign
6	73194502	G	A	G73194502A	KCNQ5	NM_019842.4(KCNQ5):c.1887G>A:p.Gln629=	coding	Benign
6	73194505	C	T	C73194505T	KCNQ5	NM_019842.4(KCNQ5):c.1890C>T:p.Val630=	coding	Benign
6	73194533	G	A	G73194533A	KCNQ5	NM_019842.4(KCNQ5):c.1918G>A:p.Ala640Thr	coding	Benign
6	73194534	C	A	C73194534A	KCNQ5	NM_019842.4(KCNQ5):c.1919C>A:p.Ala640Asp	coding	Benign
6	73194622	C	T	C73194622T	KCNQ5	NM_019842.4(KCNQ5):c.2007C>T:p.Ser669=	coding	Benign
6	73194623	G	A	G73194623A	KCNQ5	NM_019842.4(KCNQ5):c.2008G>A:p.Ala670Thr	coding	Benign
6	73194631	C	G	C73194631G	KCNQ5	NM_019842.4(KCNQ5):c.2016C>G:p.Asn672Lys	coding	Benign
6	73194667	C	T	C73194667T	KCNQ5	NM_019842.4(KCNQ5):c.2052C>T:p.Ile684=	coding	Benign
6	73194682	G	A	G73194682A	KCNQ5	NM_019842.4(KCNQ5):c.2067G>A:p.Gln689=	coding	Benign/Likely_benign
6	73194693	C	T	C73194693T	KCNQ5	NM_019842.4(KCNQ5):c.2078C>T:p.Thr693Met	coding	Benign
6	73194700	T	C	T73194700C	KCNQ5	NM_019842.4(KCNQ5):c.2085T>C:p.Asn695=	coding	Benign
6	73194725	G	A	G73194725A	KCNQ5	NM_019842.4(KCNQ5):c.2110G>A:p.Ala704Thr	coding	Benign
6	73194753	C	A	C73194753A	KCNQ5	NM_019842.4(KCNQ5):c.2138C>A:p.Ala713Glu	coding	Benign
6	73194778	C	T	C73194778T	KCNQ5	NM_019842.4(KCNQ5):c.2163C>T:p.Ser721=	coding	Benign
6	73194834	C	T	C73194834T	KCNQ5	NM_019842.4(KCNQ5):c.2219C>T:p.Pro740Leu	coding	Benign
6	73194889	G	A	G73194889A	KCNQ5	NM_019842.4(KCNQ5):c.2274G>A:p.Lys758=	coding	Benign
6	73194948	C	G	C73194948G	KCNQ5	NM_019842.4(KCNQ5):c.2333C>G:p.Ser778Cys	coding	Benign
6	73194980	G	A	G73194980A	KCNQ5	NM_019842.4(KCNQ5):c.2365G>A:p.Glu789Lys	coding	Benign
6	73195080	T	C	T73195080C	KCNQ5	NM_019842.4(KCNQ5):c.2465T>C:p.Val822Ala	coding	Benign
6	73195084	G	A	G73195084A	KCNQ5	NM_019842.4(KCNQ5):c.2469G>A:p.Pro823=	coding	Benign
6	73195132	C	T	C73195132T	KCNQ5	NM_019842.4(KCNQ5):c.2517C>T:p.Thr839=	coding	Benign
6	73195133	G	A	G73195133A	KCNQ5	NM_019842.4(KCNQ5):c.2518G>A:p.Glu840Lys	coding	Benign
6	73195311	C	T	C73195311T	KCNQ5	NM_019842.4(KCNQ5):c.2696C>T:p.Ala899Val	coding	Benign
6	73363808	C	G	C73363808G	KHDC3L	NM_001017361.3(KHDC3L):c.602C>G:p.Ala201Gly	coding	Benign
6	73461661	C	A	C73461661A	MTO1	Single_allele	noncoding	Benign
6	73461744	C	G	C73461744G	MTO1	NM_012123.4(MTO1):c.-111C>G	noncoding	Benign
6	73462345	C	A	C73462345A	MTO1	NM_012123.4(MTO1):c.217+274C>A	noncoding	Benign
6	73462346	T	G	T73462346G	MTO1	NM_012123.4(MTO1):c.217+275T>G	noncoding	Benign
6	73462352	C	A	C73462352A	MTO1	NM_012123.4(MTO1):c.217+281C>A	noncoding	Benign
6	73473496	C	T	C73473496T	MTO1	NM_012123.4(MTO1):c.667C>T:p.Gln223Ter	coding	Pathogenic
6	73479828	A	G	A73479828G	MTO1	NM_012123.4(MTO1):c.922A>G:p.Thr308Ala	coding	Benign/Likely_benign
6	73479958	A	T	A73479958T	MTO1	NM_012123.4(MTO1):c.961A>T:p.Lys321Ter	coding	Pathogenic
6	73482184	C	T	C73482184T	MTO1	NM_012123.4(MTO1):c.1405C>T:p.Arg469Ter	coding	Pathogenic
6	73482229	C	T	C73482229T	MTO1	NM_012123.4(MTO1):c.1450C>T:p.Arg484Trp	coding	Pathogenic/Likely_pathogenic
6	73482481	C	T	C73482481T	MTO1	NM_012123.4(MTO1):c.1498C>T:p.Arg500Ter	coding	Pathogenic
6	73482636	A	G	A73482636G	MTO1	NM_012123.4(MTO1):c.1637+16A>G	noncoding	Benign/Likely_benign
6	73482679	C	A	C73482679A	MTO1	NM_012123.4(MTO1):c.1637+59C>A	noncoding	Benign
6	73492090	C	T	C73492090T	MTO1	NM_012123.4(MTO1):c.1638-144C>T	noncoding	Benign
6	73492655	T	C	T73492655C	MTO1	NM_012123.4(MTO1):c.1756+303T>C	noncoding	Benign
6	73497768	C	T	C73497768T	MTO1	NM_012123.4(MTO1):c.1789C>T:p.Gln597Ter	coding	Pathogenic
6	73497827	T	G	T73497827G	MTO1	NM_012123.4(MTO1):c.1848T>G:p.Tyr616Ter	coding	Pathogenic
6	73500897	C	T	C73500897T	MTO1	NM_012123.4(MTO1):c.*162C>T	noncoding	Benign
6	73610399	C	T	C73610399T	SLC17A5	NM_012434.5(SLC17A5):c.1259+1G>A	noncoding	Pathogenic/Likely_pathogenic
6	73610565	T	C	T73610565C	SLC17A5	NM_012434.5(SLC17A5):c.1112-18A>G	noncoding	Benign
6	73610583	C	T	C73610583T	SLC17A5	NM_012434.5(SLC17A5):c.1112-36G>A	noncoding	Benign
6	73615314	C	T	C73615314T	SLC17A5	NM_012434.5(SLC17A5):c.1111+1G>A	noncoding	Pathogenic
6	73615371	A	T	A73615371T	SLC17A5	NM_012434.5(SLC17A5):c.1055T>A:p.Leu352Ter	coding	Pathogenic
6	73615410	C	T	C73615410T	SLC17A5	NM_012434.5(SLC17A5):c.1016G>A:p.Trp339Ter	coding	Pathogenic/Likely_pathogenic
6	73615480	C	T	C73615480T	SLC17A5	NM_012434.5(SLC17A5):c.979-33G>A	noncoding	Benign
6	73615689	T	G	T73615689G	SLC17A5	NM_012434.5(SLC17A5):c.979-242A>C	noncoding	Benign
6	73621806	C	A	C73621806A	SLC17A5	NM_012434.5(SLC17A5):c.976G>T:p.Glu326Ter	coding	Pathogenic
6	73621953	G	A	G73621953A	SLC17A5	NM_012434.5(SLC17A5):c.829C>T:p.Gln277Ter	coding	Pathogenic
6	73635463	C	T	C73635463T	SLC17A5	NM_012434.5(SLC17A5):c.738G>A:p.Trp246Ter	coding	Pathogenic/Likely_pathogenic
6	73638605	C	A	C73638605A	SLC17A5	NM_012434.5(SLC17A5):c.526-106G>T	noncoding	Benign
6	73641655	C	G	C73641655G	SLC17A5	NM_012434.5(SLC17A5):c.525+36G>C	noncoding	Benign
6	73642063	G	A	G73642063A	SLC17A5	NM_012434.5(SLC17A5):c.292-139C>T	noncoding	Benign
6	73642253	G	A	G73642253A	SLC17A5	NM_012434.5(SLC17A5):c.292-329C>T	noncoding	Benign
6	73644582	C	T	C73644582T	SLC17A5	NM_012434.5(SLC17A5):c.116G>A:p.Arg39His	coding	Pathogenic/Likely_pathogenic
6	73644645	T	A	T73644645A	SLC17A5	NM_012434.5(SLC17A5):c.95-42A>T	noncoding	Benign
6	73644765	C	G	C73644765G	SLC17A5	NM_012434.5(SLC17A5):c.95-162G>C	noncoding	Benign
6	73653886	T	A	T73653886A	SLC17A5	NM_012434.5(SLC17A5):c.1A>T:p.Met1Leu	coding	Pathogenic
6	73654114	C	T	C73654114T	SLC17A5	Single_allele	noncoding	Benign
6	73654159	T	C	T73654159C	SLC17A5	Single_allele	noncoding	Benign
6	75086337	A	C	A75086337C	COL12A1	NM_004370.6(COL12A1):c.*210T>G	noncoding	Benign
6	75086758	G	T	G75086758T	COL12A1	NM_004370.6(COL12A1):c.9182-201C>A	noncoding	Benign
6	75089926	A	G	A75089926G	COL12A1	NM_004370.6(COL12A1):c.8941+184T>C	noncoding	Benign
6	75090092	G	A	G75090092A	COL12A1	NM_004370.6(COL12A1):c.8941+18C>T	noncoding	Benign
6	75090317	C	T	C75090317T	COL12A1	NM_004370.6(COL12A1):c.8753-19G>A	noncoding	Benign
6	75091077	G	A	G75091077A	COL12A1	NM_004370.6(COL12A1):c.8752+246C>T	noncoding	Benign
6	75091215	T	C	T75091215C	COL12A1	NM_004370.6(COL12A1):c.8752+108A>G	noncoding	Benign
6	75094862	C	T	C75094862T	COL12A1	NM_004370.6(COL12A1):c.8649+246G>A	noncoding	Benign
6	75094947	T	A	T75094947A	COL12A1	NM_004370.6(COL12A1):c.8649+161A>T	noncoding	Benign
6	75095067	G	A	G75095067A	COL12A1	NM_004370.6(COL12A1):c.8649+41C>T	noncoding	Benign
6	75097526	A	T	A75097526T	COL12A1	NM_004370.6(COL12A1):c.8524-220T>A	noncoding	Benign
6	75101575	T	C	T75101575C	COL12A1	NM_004370.6(COL12A1):c.8523+25A>G	noncoding	Benign
6	75102066	T	C	T75102066C	COL12A1	NM_004370.6(COL12A1):c.8416-14A>G	noncoding	Benign
6	75102141	C	T	C75102141T	COL12A1	NM_004370.6(COL12A1):c.8416-89G>A	noncoding	Benign
6	75102164	G	A	G75102164A	COL12A1	NM_004370.6(COL12A1):c.8416-112C>T	noncoding	Benign
6	75102711	A	G	A75102711G	COL12A1	NM_004370.6(COL12A1):c.8320-19T>C	noncoding	Benign
6	75104019	T	G	T75104019G	COL12A1	NM_004370.6(COL12A1):c.8266-209A>C	noncoding	Benign
6	75106124	C	T	C75106124T	COL12A1	NM_004370.6(COL12A1):c.8178+295G>A	noncoding	Benign
6	75106159	T	G	T75106159G	COL12A1	NM_004370.6(COL12A1):c.8178+260A>C	noncoding	Benign
6	75109401	T	A	T75109401A	COL12A1	NM_004370.6(COL12A1):c.7951-234A>T	noncoding	Benign
6	75113110	T	C	T75113110C	COL12A1	NM_004370.6(COL12A1):c.7950+94A>G	noncoding	Benign
6	75115465	A	G	A75115465G	COL12A1	NM_004370.6(COL12A1):c.7697+319T>C	noncoding	Benign
6	75116319	A	T	A75116319T	COL12A1	NM_004370.6(COL12A1):c.7520-262T>A	noncoding	Benign
6	75117108	C	T	C75117108T	COL12A1	NM_004370.6(COL12A1):c.7519+274G>A	noncoding	Benign
6	75117312	T	C	T75117312C	COL12A1	NM_004370.6(COL12A1):c.7519+70A>G	noncoding	Benign
6	75119631	T	C	T75119631C	COL12A1	NM_004370.6(COL12A1):c.7087-158A>G	noncoding	Benign
6	75119657	G	T	G75119657T	COL12A1	NM_004370.6(COL12A1):c.7087-184C>A	noncoding	Benign
6	75119751	G	T	G75119751T	COL12A1	NM_004370.6(COL12A1):c.7087-278C>A	noncoding	Benign
6	75121001	C	G	C75121001G	COL12A1	NM_004370.6(COL12A1):c.7086+301G>C	noncoding	Benign
6	75121131	G	T	G75121131T	COL12A1	NM_004370.6(COL12A1):c.7086+171C>A	noncoding	Benign
6	75121258	G	C	G75121258C	COL12A1	NM_004370.6(COL12A1):c.7086+44C>G	noncoding	Benign
6	75121267	C	T	C75121267T	COL12A1	NM_004370.6(COL12A1):c.7086+35G>A	noncoding	Benign
6	75124160	C	A	C75124160A	COL12A1	NM_004370.6(COL12A1):c.6725-66G>T	noncoding	Benign
6	75124532	T	C	T75124532C	COL12A1	NM_004370.6(COL12A1):c.6608-161A>G	noncoding	Benign
6	75125589	A	G	A75125589G	COL12A1	NM_004370.6(COL12A1):c.6461-316T>C	noncoding	Benign
6	75126277	G	A	G75126277A	COL12A1	NM_004370.6(COL12A1):c.6460+74C>T	noncoding	Benign
6	75128454	T	G	T75128454G	COL12A1	NM_004370.6(COL12A1):c.6211-29A>C	noncoding	Benign
6	75128583	T	C	T75128583C	COL12A1	NM_004370.6(COL12A1):c.6211-158A>G	noncoding	Benign
6	75128663	G	A	G75128663A	COL12A1	NM_004370.6(COL12A1):c.6211-238C>T	noncoding	Benign
6	75128666	A	T	A75128666T	COL12A1	NM_004370.6(COL12A1):c.6211-241T>A	noncoding	Benign
6	75129988	C	G	C75129988G	COL12A1	NM_004370.6(COL12A1):c.6210+103G>C	noncoding	Benign
6	75130078	G	A	G75130078A	COL12A1	NM_004370.6(COL12A1):c.6210+13C>T	noncoding	Benign/Likely_benign
6	75130247	A	T	A75130247T	COL12A1	NM_004370.6(COL12A1):c.6068-14T>A	noncoding	Benign
6	75130250	C	A	C75130250A	COL12A1	NM_004370.6(COL12A1):c.6068-17G>T	noncoding	Benign
6	75130404	G	A	G75130404A	COL12A1	NM_004370.6(COL12A1):c.6068-171C>T	noncoding	Benign
6	75133258	T	C	T75133258C	COL12A1	NM_004370.6(COL12A1):c.5794+35A>G	noncoding	Benign
6	75133291	A	T	A75133291T	COL12A1	NM_004370.6(COL12A1):c.5794+2T>A	noncoding	Pathogenic
6	75133644	G	A	G75133644A	COL12A1	NM_004370.6(COL12A1):c.5664+214C>T	noncoding	Benign
6	75134129	T	C	T75134129C	COL12A1	NM_004370.6(COL12A1):c.5525-132A>G	noncoding	Benign
6	75134263	C	G	C75134263G	COL12A1	NM_004370.6(COL12A1):c.5525-266G>C	noncoding	Benign
6	75134303	A	C	A75134303C	COL12A1	NM_004370.6(COL12A1):c.5525-306T>G	noncoding	Benign
6	75134884	C	T	C75134884T	COL12A1	NM_004370.6(COL12A1):c.5395-29G>A	noncoding	Benign
6	75137320	G	A	G75137320A	COL12A1	NM_004370.6(COL12A1):c.5394+117C>T	noncoding	Benign
6	75138660	C	T	C75138660T	COL12A1	NM_004370.6(COL12A1):c.5098-80G>A	noncoding	Benign
6	75141982	G	T	G75141982T	COL12A1	NM_004370.6(COL12A1):c.4957+50C>A	noncoding	Benign
6	75143061	C	T	C75143061T	COL12A1	NM_004370.6(COL12A1):c.4827+191G>A	noncoding	Benign
6	75145535	T	C	T75145535C	COL12A1	NM_004370.6(COL12A1):c.4561-80A>G	noncoding	Benign
6	75145718	A	G	A75145718G	COL12A1	NM_004370.6(COL12A1):c.4561-263T>C	noncoding	Benign
6	75145820	C	T	C75145820T	COL12A1	NM_004370.6(COL12A1):c.4560+282G>A	noncoding	Benign
6	75145999	C	T	C75145999T	COL12A1	NM_004370.6(COL12A1):c.4560+103G>A	noncoding	Benign
6	75148191	C	T	C75148191T	COL12A1	NM_004370.6(COL12A1):c.4287+167G>A	noncoding	Benign
6	75148670	G	A	G75148670A	COL12A1	NM_004370.6(COL12A1):c.4148-173C>T	noncoding	Benign
6	75151714	G	A	G75151714A	COL12A1	NM_004370.6(COL12A1):c.4000+153C>T	noncoding	Benign
6	75151771	A	T	A75151771T	COL12A1	NM_004370.6(COL12A1):c.4000+96T>A	noncoding	Benign
6	75152300	T	A	T75152300A	COL12A1	NM_004370.6(COL12A1):c.3715+33A>T	noncoding	Benign
6	75152757	C	T	C75152757T	COL12A1	NM_004370.6(COL12A1):c.3566-275G>A	noncoding	Benign
6	75154087	G	A	G75154087A	COL12A1	NM_004370.6(COL12A1):c.3565+329C>T	noncoding	Benign
6	75154381	T	C	T75154381C	COL12A1	NM_004370.6(COL12A1):c.3565+35A>G	noncoding	Benign
6	75154560	T	G	T75154560G	COL12A1	NM_004370.6(COL12A1):c.3444-23A>C	noncoding	Benign
6	75154649	A	C	A75154649C	COL12A1	NM_004370.6(COL12A1):c.3444-112T>G	noncoding	Benign
6	75155614	G	T	G75155614T	COL12A1	NM_004370.6(COL12A1):c.3443+48C>A	noncoding	Benign
6	75156808	T	A	T75156808A	COL12A1	NM_004370.6(COL12A1):c.2984-285A>T	noncoding	Benign
6	75165794	A	G	A75165794G	COL12A1	NM_004370.6(COL12A1):c.2711-15T>C	noncoding	Benign/Likely_benign
6	75165800	G	A	G75165800A	COL12A1	NM_004370.6(COL12A1):c.2711-21C>T	noncoding	Benign
6	75175589	A	G	A75175589G	COL12A1	NM_004370.6(COL12A1):c.2438-279T>C	noncoding	Benign
6	75177555	C	T	C75177555T	COL12A1	NM_004370.6(COL12A1):c.2437+108G>A	noncoding	Benign
6	75177650	A	G	A75177650G	COL12A1	NM_004370.6(COL12A1):c.2437+13T>C	noncoding	Benign/Likely_benign
6	75177921	G	A	G75177921A	COL12A1	NM_004370.6(COL12A1):c.2179C>T:p.Arg727Ter	coding	Pathogenic
6	75177967	C	A	C75177967A	COL12A1	NM_004370.6(COL12A1):c.2165-32G>T	noncoding	Benign
6	75180720	C	T	C75180720T	COL12A1	NM_004370.6(COL12A1):c.2164+219G>A	noncoding	Benign
6	75180921	G	T	G75180921T	COL12A1	NM_004370.6(COL12A1):c.2164+18C>A	noncoding	Benign/Likely_benign
6	75181514	C	T	C75181514T	COL12A1	NM_004370.6(COL12A1):c.1892-303G>A	noncoding	Benign
6	75182817	C	T	C75182817T	COL12A1	NM_004370.6(COL12A1):c.1891+233G>A	noncoding	Benign
6	75183926	C	T	C75183926T	COL12A1	NM_004370.6(COL12A1):c.1216G>A:p.Ala406Thr	coding	Benign
6	75184124	A	G	A75184124G	COL12A1	NM_004370.6(COL12A1):c.1018T>C:p.Leu340=	coding	Benign/Likely_benign
6	75188348	C	T	C75188348T	COL12A1	NM_004370.6(COL12A1):c.997+14G>A	noncoding	Benign
6	75191576	C	T	C75191576T	COL12A1	NM_004370.6(COL12A1):c.394+125G>A	noncoding	Benign
6	75192666	T	C	T75192666C	COL12A1	NM_004370.6(COL12A1):c.191-311A>G	noncoding	Benign
6	75194739	A	T	A75194739T	COL12A1	NM_004370.6(COL12A1):c.190+92T>A	noncoding	Benign
6	75194817	G	C	G75194817C	COL12A1	NM_004370.6(COL12A1):c.190+14C>G	noncoding	Benign
6	75195128	G	C	G75195128C	COL12A1	NM_004370.6(COL12A1):c.74-181C>G	noncoding	Benign
6	75202695	G	A	G75202695A	COL12A1	NM_004370.6(COL12A1):c.73+25C>T	noncoding	Benign
6	75749465	G	T	G75749465T	MYO6	NM_004999.4(MYO6):c.-48+42G>T	noncoding	Benign
6	75817319	A	G	A75817319G	MYO6	NM_004999.4(MYO6):c.-47-182A>G	noncoding	Benign
6	75822918	T	C	T75822918C	MYO6	NM_004999.4(MYO6):c.187+67T>C	noncoding	Benign
6	75823002	G	A	G75823002A	MYO6	NM_004999.4(MYO6):c.187+151G>A	noncoding	Benign
6	75828644	G	A	G75828644A	MYO6	NM_004999.4(MYO6):c.261+31G>A	noncoding	Benign
6	75828686	G	A	G75828686A	MYO6	NM_004999.4(MYO6):c.261+73G>A	noncoding	Benign
6	75830395	G	A	G75830395A	MYO6	NM_004999.4(MYO6):c.262-21G>A	noncoding	Benign
6	75836141	A	G	A75836141G	MYO6	NM_004999.4(MYO6):c.553+185A>G	noncoding	Benign
6	75840520	A	G	A75840520G	MYO6	NM_004999.4(MYO6):c.554-65A>G	noncoding	Benign
6	75841013	G	A	G75841013A	MYO6	NM_004999.4(MYO6):c.652-201G>A	noncoding	Benign
6	75844679	T	C	T75844679C	MYO6	NM_004999.4(MYO6):c.817-218T>C	noncoding	Benign
6	75844876	G	A	G75844876A	MYO6	NM_004999.4(MYO6):c.817-21G>A	noncoding	Benign
6	75848112	A	G	A75848112G	MYO6	NM_004999.4(MYO6):c.898-239A>G	noncoding	Benign
6	75848641	A	G	A75848641G	MYO6	NM_004999.4(MYO6):c.1078+110A>G	noncoding	Benign
6	75848663	A	C	A75848663C	MYO6	NM_004999.4(MYO6):c.1078+132A>C	noncoding	Benign
6	75848768	T	G	T75848768G	MYO6	NM_004999.4(MYO6):c.1078+237T>G	noncoding	Benign
6	75856979	A	G	A75856979G	MYO6	NM_004999.4(MYO6):c.1224-118A>G	noncoding	Benign
6	75857017	T	G	T75857017G	MYO6	NM_004999.4(MYO6):c.1224-80T>G	noncoding	Benign
6	75857327	T	C	T75857327C	MYO6	NM_004999.4(MYO6):c.1381+73T>C	noncoding	Benign
6	75858679	A	G	A75858679G	MYO6	NM_004999.4(MYO6):c.1382-223A>G	noncoding	Benign
6	75858854	A	G	A75858854G	MYO6	NM_004999.4(MYO6):c.1382-48A>G	noncoding	Benign
6	75859132	A	T	A75859132T	MYO6	NM_004999.4(MYO6):c.1473+139A>T	noncoding	Benign
6	75859143	C	T	C75859143T	MYO6	NM_004999.4(MYO6):c.1473+150C>T	noncoding	Benign
6	75862282	C	T	C75862282T	MYO6	NM_004999.4(MYO6):c.1547-314C>T	noncoding	Benign
6	75862344	A	G	A75862344G	MYO6	NM_004999.4(MYO6):c.1547-252A>G	noncoding	Benign
6	75862951	A	G	A75862951G	MYO6	NM_004999.4(MYO6):c.1674+228A>G	noncoding	Benign
6	75866810	G	T	G75866810T	MYO6	NM_004999.4(MYO6):c.1771-122G>T	noncoding	Benign
6	75866884	T	C	T75866884C	MYO6	NM_004999.4(MYO6):c.1771-48T>C	noncoding	Benign
6	75867020	T	A	T75867020A	MYO6	NM_004999.4(MYO6):c.1859T>A:p.Leu620Ter	coding	Pathogenic
6	75867300	A	T	A75867300T	MYO6	NM_004999.4(MYO6):c.1944+195A>T	noncoding	Benign
6	75870526	T	C	T75870526C	MYO6	NM_004999.4(MYO6):c.1945-121T>C	noncoding	Benign
6	75870878	T	C	T75870878C	MYO6	NM_004999.4(MYO6):c.1983+193T>C	noncoding	Benign
6	75873093	T	C	T75873093C	MYO6	NM_004999.4(MYO6):c.1984-114T>C	noncoding	Benign
6	75873396	T	A	T75873396A	MYO6	NM_004999.4(MYO6):c.2077+96T>A	noncoding	Benign
6	75873587	A	G	A75873587G	MYO6	NM_004999.4(MYO6):c.2077+287A>G	noncoding	Benign
6	75879595	A	G	A75879595G	MYO6	NM_004999.4(MYO6):c.2078-225A>G	noncoding	Benign
6	75879801	T	C	T75879801C	MYO6	NM_004999.4(MYO6):c.2078-19T>C	noncoding	Benign/Likely_benign
6	75879917	A	G	A75879917G	MYO6	NM_004999.4(MYO6):c.2175A>G:p.Lys725=	coding	Benign/Likely_benign
6	75881397	G	A	G75881397A	MYO6	NM_004999.4(MYO6):c.2287-292G>A	noncoding	Benign
6	75881687	A	G	A75881687G	MYO6	NM_004999.4(MYO6):c.2287-2A>G	noncoding	Pathogenic
6	75882082	C	T	C75882082T	MYO6	NM_004999.4(MYO6):c.2416+264C>T	noncoding	Benign
6	75882087	C	A	C75882087A	MYO6	NM_004999.4(MYO6):c.2416+269C>A	noncoding	Benign
6	75886572	G	A	G75886572A	MYO6	NM_004999.4(MYO6):c.2508-272G>A	noncoding	Benign
6	75886639	A	G	A75886639G	MYO6	NM_004999.4(MYO6):c.2508-205A>G	noncoding	Benign
6	75886640	A	C	A75886640C	MYO6	NM_004999.4(MYO6):c.2508-204A>C	noncoding	Benign
6	75886650	C	G	C75886650G	MYO6	NM_004999.4(MYO6):c.2508-194C>G	noncoding	Benign
6	75889865	C	T	C75889865T	MYO6	NM_004999.4(MYO6):c.2659-192C>T	noncoding	Benign
6	75890159	G	T	G75890159T	MYO6	NM_004999.4(MYO6):c.2761G>T:p.Glu921Ter	coding	Pathogenic
6	75890266	G	A	G75890266A	MYO6	NM_004999.4(MYO6):c.2867+1G>A	coding	Pathogenic
6	75890533	C	T	C75890533T	MYO6	NM_004999.4(MYO6):c.2867+268C>T	noncoding	Benign
6	75892275	G	A	G75892275A	MYO6	NM_004999.4(MYO6):c.2947-255G>A	noncoding	Benign
6	75892557	C	T	C75892557T	MYO6	NM_004999.4(MYO6):c.2974C>T:p.Gln992Ter	coding	Pathogenic
6	75895080	A	G	A75895080G	MYO6	NM_004999.4(MYO6):c.3108-151A>G	noncoding	Benign
6	75895428	A	C	A75895428C	MYO6	NM_004999.4(MYO6):c.3137+168A>C	noncoding	Benign
6	75898266	T	A	T75898266A	MYO6	NM_004999.4(MYO6):c.3138-107T>A	noncoding	Benign
6	75907369	A	G	A75907369G	MYO6	NM_004999.4(MYO6):c.3177-236A>G	noncoding	Benign
6	75907940	G	A	G75907940A	MYO6	NM_004999.4(MYO6):c.3280+232G>A	noncoding	Benign
6	75907974	A	G	A75907974G	MYO6	NM_004999.4(MYO6):c.3280+266A>G	noncoding	Benign
6	75908865	T	C	T75908865C	MYO6	NM_004999.4(MYO6):c.3412+238T>C	noncoding	Benign
6	75922106	C	T	C75922106T	IMPG1	NM_001563.4(IMPG1):c.2377G>A:p.Asp793Asn	coding	Benign
6	75923668	C	T	C75923668T	IMPG1	NM_001563.4(IMPG1):c.2282G>A:p.Ser761Asn	coding	Benign
6	75931064	C	T	C75931064T	IMPG1	NM_001563.4(IMPG1):c.2132G>A:p.Arg711His	coding	Benign
6	75931086	G	A	G75931086A	IMPG1	NM_001563.4(IMPG1):c.2110C>T:p.Arg704Trp	coding	Benign
6	75950554	C	T	C75950554T	IMPG1	NM_001563.4(IMPG1):c.1824+8G>A	noncoding	Benign
6	75950680	T	C	T75950680C	IMPG1	NM_001563.4(IMPG1):c.1706A>G:p.Lys569Arg	coding	Benign
6	75950834	G	C	G75950834C	IMPG1	NM_001563.4(IMPG1):c.1552C>G:p.His518Asp	coding	Benign
6	75950998	C	A	C75950998A	IMPG1	NM_001563.4(IMPG1):c.1388G>T:p.Gly463Val	coding	Benign
6	75951069	C	T	C75951069T	IMPG1	NM_001563.4(IMPG1):c.1317G>A:p.Met439Ile	coding	Benign
6	76002938	C	T	C76002938T	IMPG1	NM_001563.4(IMPG1):c.1271G>A:p.Gly424Glu	coding	Benign
6	76005462	A	T	A76005462T	IMPG1	NM_001563.4(IMPG1):c.960T>A:p.Ser320Arg	coding	Pathogenic
6	76005546	A	C	A76005546C	IMPG1	NM_001563.4(IMPG1):c.888-12T>G	noncoding	Benign
6	76018713	C	T	C76018713T	IMPG1	NM_001563.4(IMPG1):c.807+5G>A	noncoding	Pathogenic
6	76018807	C	T	C76018807T	IMPG1	NM_001563.4(IMPG1):c.718G>A:p.Val240Ile	coding	Benign
6	76022132	G	A	G76022132A	IMPG1	NM_001563.4(IMPG1):c.650C>T:p.Thr217Ile	coding	Benign
6	76022137	G	A	G76022137A	IMPG1	NM_001563.4(IMPG1):c.645C>T:p.Asn215=	coding	Benign
6	78945760	G	A	G78945760A	PHIP	NM_017934.7(PHIP):c.4630+241C>T	noncoding	Benign
6	78946710	C	T	C78946710T	PHIP	NM_017934.7(PHIP):c.4370+1G>A	noncoding	Pathogenic
6	78946845	A	T	A78946845T	PHIP	NM_017934.7(PHIP):c.4236T>A:p.Ala1412=	coding	Benign
6	78946853	G	A	G78946853A	PHIP	NM_017934.7(PHIP):c.4228C>T:p.Leu1410=	coding	Benign
6	78947325	C	T	C78947325T	PHIP	NM_017934.7(PHIP):c.4206+298G>A	noncoding	Benign
6	78947674	G	A	G78947674A	PHIP	NM_017934.7(PHIP):c.4155C>T:p.Val1385=	coding	Benign
6	78954723	T	C	T78954723C	PHIP	NM_017934.7(PHIP):c.4053+91A>G	noncoding	Benign
6	78954945	T	A	T78954945A	PHIP	NM_017934.7(PHIP):c.3922A>T:p.Arg1308Ter	coding	Pathogenic
6	78955031	T	C	T78955031C	PHIP	NM_017934.7(PHIP):c.3904-68A>G	noncoding	Benign
6	78955493	T	A	T78955493A	PHIP	NM_017934.7(PHIP):c.3852+120A>T	noncoding	Benign
6	78962016	T	C	T78962016C	PHIP	NM_017934.7(PHIP):c.3536-206A>G	noncoding	Benign
6	78962805	A	G	A78962805G	PHIP	NM_017934.7(PHIP):c.3535+292T>C	noncoding	Benign
6	78965984	A	G	A78965984G	PHIP	NM_017934.7(PHIP):c.3278T>C:p.Leu1093Pro	coding	Benign
6	78966345	G	A	G78966345A	PHIP	NM_017934.7(PHIP):c.3206-289C>T	noncoding	Benign
6	78969847	G	A	G78969847A	PHIP	NM_017934.7(PHIP):c.3193C>T:p.Arg1065Ter	coding	Pathogenic/Likely_pathogenic
6	78969860	A	G	A78969860G	PHIP	NM_017934.7(PHIP):c.3180T>C:p.Asp1060=	coding	Benign
6	78970061	G	T	G78970061T	PHIP	NM_017934.7(PHIP):c.3110C>A:p.Ser1037Ter	coding	Pathogenic
6	78970346	T	C	T78970346C	PHIP	NM_017934.7(PHIP):c.2998-173A>G	noncoding	Benign
6	78978649	T	C	T78978649C	PHIP	NM_017934.7(PHIP):c.2832A>G:p.Thr944=	coding	Benign
6	78982682	A	C	A78982682C	PHIP	NM_017934.7(PHIP):c.2769+204T>G	noncoding	Benign
6	78982987	G	A	G78982987A	PHIP	NM_017934.7(PHIP):c.2668C>T:p.Gln890Ter	coding	Pathogenic
6	78982999	C	A	C78982999A	PHIP	NM_017934.7(PHIP):c.2656G>T:p.Glu886Ter	coding	Pathogenic
6	78983034	G	A	G78983034A	PHIP	NM_017934.7(PHIP):c.2621C>T:p.Thr874Ile	coding	Benign
6	78985312	C	T	C78985312T	PHIP	NM_017934.7(PHIP):c.2537+40G>A	noncoding	Benign
6	78988138	G	A	G78988138A	PHIP	NM_017934.7(PHIP):c.2460+71C>T	noncoding	Benign
6	78988663	C	T	C78988663T	PHIP	NM_017934.7(PHIP):c.2320-314G>A	noncoding	Benign
6	78988665	T	C	T78988665C	PHIP	NM_017934.7(PHIP):c.2320-316A>G	noncoding	Benign
6	78990608	G	C	G78990608C	PHIP	NM_017934.7(PHIP):c.2319+260C>G	noncoding	Benign
6	78991263	T	C	T78991263C	PHIP	NM_017934.7(PHIP):c.2202-278A>G	noncoding	Benign
6	78997868	T	C	T78997868C	PHIP	NM_017934.7(PHIP):c.2018-271A>G	noncoding	Benign
6	78998023	T	C	T78998023C	PHIP	NM_017934.7(PHIP):c.2017+231A>G	noncoding	Benign
6	78998206	C	T	C78998206T	PHIP	NM_017934.7(PHIP):c.2017+48G>A	noncoding	Benign
6	78998283	A	C	A78998283C	PHIP	NM_017934.7(PHIP):c.1988T>G:p.Val663Gly	coding	Benign
6	79002255	A	G	A79002255G	PHIP	NM_017934.7(PHIP):c.1654-131T>C	noncoding	Benign
6	79003820	T	C	T79003820C	PHIP	NM_017934.7(PHIP):c.1563A>G:p.Lys521=	coding	Benign
6	79015023	C	A	C79015023A	PHIP	NM_017934.7(PHIP):c.1524+59G>T	noncoding	Benign
6	79015512	C	T	C79015512T	PHIP	NM_017934.7(PHIP):c.1389+118G>A	noncoding	Benign
6	79016535	A	T	A79016535T	PHIP	NM_017934.7(PHIP):c.1235+9T>A	noncoding	Benign
6	79016593	G	A	G79016593A	PHIP	NM_017934.7(PHIP):c.1186C>T:p.Arg396Ter	coding	Pathogenic/Likely_pathogenic
6	79017033	T	A	T79017033A	PHIP	NM_017934.7(PHIP):c.1136+313A>T	noncoding	Benign
6	79026002	G	A	G79026002A	PHIP	NM_017934.7(PHIP):c.763C>T:p.Arg255Ter	coding	Pathogenic/Likely_pathogenic
6	79026017	G	A	G79026017A	PHIP	NM_017934.7(PHIP):c.748C>T:p.Arg250Ter	coding	Pathogenic
6	79026042	T	C	T79026042C	PHIP	NM_017934.7(PHIP):c.723A>G:p.Ala241=	coding	Benign
6	79026168	A	G	A79026168G	PHIP	NM_017934.7(PHIP):c.601-4T>C	noncoding	Benign
6	79026369	C	G	C79026369G	PHIP	NM_017934.7(PHIP):c.601-205G>C	noncoding	Benign
6	79042911	G	A	G79042911A	PHIP	NM_017934.7(PHIP):c.532C>T:p.Arg178Ter	coding	Pathogenic
6	79043075	T	C	T79043075C	PHIP	NM_017934.7(PHIP):c.440-72A>G	noncoding	Benign
6	79043269	A	G	A79043269G	PHIP	NM_017934.7(PHIP):c.440-266T>C	noncoding	Benign
6	79060767	G	A	G79060767A	PHIP	NM_017934.7(PHIP):c.241C>T:p.Arg81Ter	coding	Pathogenic
6	79077938	G	A	G79077938A	PHIP	NM_017934.7(PHIP):c.41-25C>T	noncoding	Benign
6	79078019	C	T	C79078019T	PHIP	NM_017934.7(PHIP):c.40+10G>A	noncoding	Benign
6	79487591	C	A	C79487591A	LCA5	NM_001122769.3(LCA5):c.1507G>T:p.Glu503Ter	coding	Pathogenic
6	79487654	G	A	G79487654A	LCA5	NM_001122769.3(LCA5):c.1444C>T:p.Arg482Ter	coding	Pathogenic/Likely_pathogenic
6	79487720	C	A	C79487720A	LCA5	NM_001122769.3(LCA5):c.1378G>T:p.Glu460Ter	coding	Pathogenic
6	79487723	C	A	C79487723A	LCA5	NM_001122769.3(LCA5):c.1375G>T:p.Glu459Ter	coding	Pathogenic
6	79487774	G	A	G79487774A	LCA5	NM_001122769.3(LCA5):c.1324C>T:p.Gln442Ter	coding	Pathogenic
6	79489150	C	A	C79489150A	LCA5	NM_001122769.3(LCA5):c.1165G>T:p.Glu389Ter	coding	Pathogenic
6	79489228	T	C	T79489228C	LCA5	NM_001122769.3(LCA5):c.1099-12A>G	noncoding	Benign/Likely_benign
6	79491603	T	C	T79491603C	LCA5	NM_001122769.3(LCA5):c.1083A>G:p.Pro361=	coding	Benign
6	79492659	C	G	C79492659G	LCA5	NM_001122769.3(LCA5):c.859-12G>C	noncoding	Benign/Likely_benign
6	79493703	C	T	C79493703T	LCA5	NM_001122769.3(LCA5):c.768G>A:p.Gln256=	coding	Benign
6	79513280	G	A	G79513280A	LCA5	NM_001122769.3(LCA5):c.652C>T:p.Arg218Ter	coding	Pathogenic
6	79513565	G	A	G79513565A	LCA5	NM_001122769.3(LCA5):c.367C>T:p.Gln123Ter	coding	Pathogenic
6	79513588	A	T	A79513588T	LCA5	NM_001122769.3(LCA5):c.344T>A:p.Leu115Ter	coding	Pathogenic
6	79513661	C	A	C79513661A	LCA5	NM_001122769.3(LCA5):c.271G>T:p.Glu91Ter	coding	Pathogenic
6	79518826	G	C	G79518826C	LCA5	NM_001122769.3(LCA5):c.69C>G:p.Tyr23Ter	coding	Pathogenic
6	79916817	A	C	A79916817C	ELOVL4	NM_022726.4(ELOVL4):c.736T>G:p.Trp246Gly	coding	Pathogenic
6	79916900	A	T	A79916900T	ELOVL4	NM_022726.4(ELOVL4):c.670-17T>A	noncoding	Benign
6	79921654	A	G	A79921654G	ELOVL4	NM_022726.4(ELOVL4):c.512T>C:p.Ile171Thr	coding	Pathogenic/Likely_pathogenic
6	79921779	C	T	C79921779T	ELOVL4	NM_022726.4(ELOVL4):c.387G>A:p.Trp129Ter	coding	Pathogenic
6	79921814	G	A	G79921814A	ELOVL4	NM_022726.4(ELOVL4):c.370-18C>T	noncoding	Benign
6	79921913	G	T	G79921913T	ELOVL4	NM_022726.4(ELOVL4):c.370-117C>A	noncoding	Benign
6	79921914	G	C	G79921914C	ELOVL4	NM_022726.4(ELOVL4):c.370-118C>G	noncoding	Benign
6	79925131	A	G	A79925131G	ELOVL4	NM_022726.4(ELOVL4):c.289-99T>C	noncoding	Benign
6	79925917	C	T	C79925917T	ELOVL4	NM_022726.4(ELOVL4):c.288+277G>A	noncoding	Benign
6	79926684	A	T	A79926684T	ELOVL4	NM_022726.4(ELOVL4):c.101-303T>A	noncoding	Benign
6	80106428	G	A	G80106428A	BCKDHB	Single_allele	noncoding	Benign
6	80106579	T	C	T80106579C	BCKDHB	Single_allele	noncoding	Benign
6	80106694	A	T	A80106694T	BCKDHB	NM_183050.4(BCKDHB):c.1A>T:p.Met1Leu	coding	Pathogenic/Likely_pathogenic
6	80106889	G	A	G80106889A	BCKDHB	NM_183050.4(BCKDHB):c.196G>A:p.Gly66Arg	coding	Pathogenic
6	80106889	G	C	G80106889C	BCKDHB	NM_183050.4(BCKDHB):c.196G>C:p.Gly66Arg	coding	Pathogenic
6	80106889	G	T	G80106889T	BCKDHB	NM_183050.4(BCKDHB):c.196G>T:p.Gly66Trp	coding	Pathogenic
6	80107031	T	C	T80107031C	BCKDHB	NM_183050.4(BCKDHB):c.196+142T>C	noncoding	Benign
6	80129330	G	A	G80129330A	BCKDHB	NM_183050.4(BCKDHB):c.343+101G>A	noncoding	Benign
6	80129425	A	G	A80129425G	BCKDHB	NM_183050.4(BCKDHB):c.343+196A>G	noncoding	Benign
6	80167590	C	T	C80167590T	BCKDHB	NM_183050.4(BCKDHB):c.344-88C>T	noncoding	Benign/Likely_benign
6	80167812	G	A	G80167812A	BCKDHB	NM_183050.4(BCKDHB):c.477+1G>A	coding	Pathogenic
6	80167825	C	T	C80167825T	BCKDHB	NM_183050.4(BCKDHB):c.477+14C>T	noncoding	Benign/Likely_benign
6	80167881	C	T	C80167881T	BCKDHB	NM_183050.4(BCKDHB):c.477+70C>T	noncoding	Benign
6	80168905	C	T	C80168905T	BCKDHB	NM_183050.4(BCKDHB):c.508C>T:p.Arg170Cys	coding	Pathogenic/Likely_pathogenic
6	80169087	T	C	T80169087C	BCKDHB	NM_183050.4(BCKDHB):c.633+57T>C	noncoding	Benign
6	80171315	G	T	G80171315T	BCKDHB	NM_183050.4(BCKDHB):c.667G>T:p.Gly223Ter	coding	Pathogenic
6	80171352	G	A	G80171352A	BCKDHB	NM_183050.4(BCKDHB):c.704G>A:p.Cys235Tyr	coding	Pathogenic
6	80200854	G	A	G80200854A	BCKDHB	NM_183050.4(BCKDHB):c.743-80G>A	noncoding	Benign
6	80202796	C	T	C80202796T	BCKDHB	NM_183050.4(BCKDHB):c.841-306C>T	noncoding	Benign
6	80202868	G	A	G80202868A	BCKDHB	NM_183050.4(BCKDHB):c.841-234G>A	noncoding	Benign
6	80272984	G	A	G80272984A	BCKDHB	NM_183050.4(BCKDHB):c.952-151G>A	noncoding	Benign
6	80273495	T	A	T80273495A	BCKDHB	NM_183050.4(BCKDHB):c.1038+274T>A	noncoding	Benign
6	80343400	G	A	G80343400A	BCKDHB	NM_183050.4(BCKDHB):c.1039-264G>A	noncoding	Benign
6	80343662	A	G	A80343662G	BCKDHB	NM_183050.4(BCKDHB):c.1039-2A>G	noncoding	Pathogenic
6	81749740	G	A	G81749740A	TENT5A	NM_017633.3(TENT5A):c.1284C>T:p.Phe428=	coding	Benign
6	81749887	G	A	G81749887A	TENT5A	NM_017633.3(TENT5A):c.1137C>T:p.Asn379=	coding	Benign
6	81750328	A	C	A81750328C	TENT5A	NM_017633.3(TENT5A):c.696T>G:p.Ser232=	coding	Benign
6	81751579	G	A	G81751579A	TENT5A	NM_017633.3(TENT5A):c.552+11C>T	noncoding	Benign
6	81751803	A	G	A81751803G	TENT5A	NM_017633.3(TENT5A):c.339T>C:p.Ile113=	coding	Benign
6	81752010	A	G	A81752010G	TENT5A	NM_017633.3(TENT5A):c.132T>C:p.Gly44=	coding	Benign
6	81752074	A	C	A81752074C	TENT5A	NM_017633.3(TENT5A):c.68T>G:p.Leu23Arg	coding	Benign
6	81752157	C	A	C81752157A	TENT5A	NM_017633.3(TENT5A):c.-16G>T	noncoding	Benign
6	81752219	G	A	G81752219A	TENT5A	NM_017633.3(TENT5A):c.-37-41C>T	noncoding	Benign
6	83170286	T	C	T83170286C	PGM3	NM_015599.3(PGM3):c.1539+19A>G	noncoding	Benign
6	83170555	C	T	C83170555T	PGM3	NM_015599.3(PGM3):c.1366-77G>A	noncoding	Benign
6	83171987	G	A	G83171987A	PGM3	NM_015599.3(PGM3):c.1315C>T:p.Gln439Ter	coding	Pathogenic
6	83174547	C	A	C83174547A	PGM3	NM_015599.3(PGM3):c.1129-60G>T	noncoding	Benign
6	83181739	G	A	G83181739A	PGM3	NM_015599.3(PGM3):c.784C>T:p.Gln262Ter	coding	Pathogenic
6	83186914	T	A	T83186914A	PGM3	NM_015599.3(PGM3):c.457+94A>T	noncoding	Benign
6	83188602	T	A	T83188602A	PGM3	NM_015599.3(PGM3):c.389+12A>T	noncoding	Benign
6	83189086	C	T	C83189086T	PGM3	NM_015599.3(PGM3):c.205-288G>A	noncoding	Benign
6	83191208	G	A	G83191208A	PGM3	NM_015599.3(PGM3):c.-2-194C>T	coding	Pathogenic/Likely_pathogenic
6	83191662	T	C	T83191662C	PGM3	NM_015599.3(PGM3):c.-2-648A>G	noncoding	Benign
6	83193907	G	C	G83193907C	PGM3	NM_033411.5(RWDD2A):c.-140-405G>C	noncoding	Benign
6	83853428	G	A	G83853428A	RIPPLY2	NM_001009994.3(RIPPLY2):c.12G>A:p.Ala4=	coding	Benign
6	83853562	T	G	T83853562G	RIPPLY2	NM_001009994.3(RIPPLY2):c.95+51T>G	coding	Benign
6	83853691	G	A	G83853691A	RIPPLY2	NM_001009994.3(RIPPLY2):c.96-4G>A	coding	Benign
6	83854180	C	T	C83854180T	RIPPLY2	NM_001009994.3(RIPPLY2):c.239+19C>T	noncoding	Benign
6	83854356	G	A	G83854356A	RIPPLY2	NM_001009994.3(RIPPLY2):c.239+195G>A	noncoding	Benign
6	83854424	G	A	G83854424A	RIPPLY2	NM_001009994.3(RIPPLY2):c.239+263G>A	noncoding	Benign
6	84055452	T	G	T84055452G	MRAP2	NM_138409.4(MRAP2):c.127+7T>G	noncoding	Benign
6	84089072	A	C	A84089072C	MRAP2	NM_138409.4(MRAP2):c.228-19A>C	noncoding	Benign
6	84089340	C	T	C84089340T	MRAP2	NM_138409.4(MRAP2):c.477C>T:p.Asn159=	coding	Benign
6	84089466	C	T	C84089466T	MRAP2	NM_138409.4(MRAP2):c.603C>T:p.His201=	coding	Benign
6	84738385	C	T	C84738385T	TBX18	NM_001080508.3(TBX18):c.1099+112G>A	noncoding	Benign
6	84738847	A	G	A84738847G	TBX18	NM_001080508.3(TBX18):c.1005-256T>C	noncoding	Benign
6	84744047	G	C	G84744047C	TBX18	NM_001080508.3(TBX18):c.1004+214C>G	noncoding	Benign
6	84744064	C	T	C84744064T	TBX18	NM_001080508.3(TBX18):c.1004+197G>A	noncoding	Benign
6	84744553	C	G	C84744553G	TBX18	NM_001080508.3(TBX18):c.940-228G>C	noncoding	Benign
6	84756568	A	C	A84756568C	TBX18	NM_001080508.3(TBX18):c.771+130T>G	noncoding	Benign
6	84756889	C	G	C84756889G	TBX18	NM_001080508.3(TBX18):c.600-20G>C	noncoding	Benign
6	84760083	C	T	C84760083T	TBX18	NM_001080508.3(TBX18):c.599+172G>A	noncoding	Benign
6	84760382	G	C	G84760382C	TBX18	NM_001080508.3(TBX18):c.498-26C>G	noncoding	Benign
6	84760406	T	A	T84760406A	TBX18	NM_001080508.3(TBX18):c.498-50A>T	noncoding	Benign
6	85489515	A	G	A85489515G	NT5E	NM_002526.4(NT5E):c.1126A>G:p.Thr376Ala	coding	Benign
6	85489611	G	C	G85489611C	NT5E	NM_002526.4(NT5E):c.1210+12G>C	noncoding	Benign
6	85506179	C	T	C85506179T	SNX14	NM_153816.6(SNX14):c.2803-174G>A	noncoding	Benign
6	85507361	A	G	A85507361G	SNX14	NM_153816.6(SNX14):c.2746-72T>C	noncoding	Benign
6	85507372	T	C	T85507372C	SNX14	NM_153816.6(SNX14):c.2746-83A>G	noncoding	Benign
6	85507730	G	T	G85507730T	SNX14	NM_153816.6(SNX14):c.2745+238C>A	noncoding	Benign
6	85513595	G	A	G85513595A	SNX14	NM_153816.6(SNX14):c.2653+205C>T	noncoding	Benign
6	85513598	T	C	T85513598C	SNX14	NM_153816.6(SNX14):c.2653+202A>G	noncoding	Benign
6	85513753	C	T	C85513753T	SNX14	NM_153816.6(SNX14):c.2653+47G>A	noncoding	Benign
6	85514335	T	G	T85514335G	SNX14	NM_153816.6(SNX14):c.2393-101A>C	noncoding	Benign
6	85518161	A	G	A85518161G	SNX14	NM_153816.6(SNX14):c.2108-113T>C	noncoding	Benign
6	85526470	C	A	C85526470A	SNX14	NM_153816.6(SNX14):c.1996-233G>T	noncoding	Benign
6	85528079	A	G	A85528079G	SNX14	NM_153816.6(SNX14):c.1995+183T>C	noncoding	Benign
6	85528081	G	A	G85528081A	SNX14	NM_153816.6(SNX14):c.1995+181C>T	noncoding	Benign
6	85528384	G	T	G85528384T	SNX14	NM_153816.6(SNX14):c.1895-22C>A	noncoding	Benign
6	85530290	C	T	C85530290T	SNX14	NM_153816.6(SNX14):c.1811-15G>A	noncoding	Benign
6	85536991	C	A	C85536991A	SNX14	NM_153816.6(SNX14):c.1476-67G>T	noncoding	Benign
6	85538742	T	C	T85538742C	SNX14	NM_153816.6(SNX14):c.1475+96A>G	noncoding	Benign
6	85543883	T	C	T85543883C	SNX14	NM_153816.6(SNX14):c.1109-123A>G	noncoding	Benign
6	85547511	T	G	T85547511G	SNX14	NM_153816.6(SNX14):c.907A>C:p.Ser303Arg	coding	Benign
6	85547817	C	A	C85547817A	SNX14	NM_153816.6(SNX14):c.868-267G>T	noncoding	Benign
6	85548156	A	C	A85548156C	SNX14	NM_153816.6(SNX14):c.867+145T>G	noncoding	Benign
6	85549487	A	G	A85549487G	SNX14	NM_153816.6(SNX14):c.791+236T>C	noncoding	Benign
6	85549595	A	T	A85549595T	SNX14	NM_153816.6(SNX14):c.791+128T>A	noncoding	Benign
6	85574437	C	T	C85574437T	SNX14	NM_153816.6(SNX14):c.141-59G>A	noncoding	Benign
6	85593373	G	A	G85593373A	SNX14	NM_153816.6(SNX14):c.140+206C>T	noncoding	Benign
6	85593426	C	G	C85593426G	SNX14	NM_153816.6(SNX14):c.140+153G>C	noncoding	Benign
6	87243604	T	G	T87243604G	ZNF292	NM_015021.3(ZNF292):c.871T>G:p.Cys291Gly	coding	Benign
6	87254989	C	T	C87254989T	ZNF292	NM_015021.3(ZNF292):c.1360C>T:p.Arg454Ter	coding	Pathogenic
6	87255810	T	C	T87255810C	ZNF292	NM_015021.3(ZNF292):c.2181T>C:p.Cys727=	coding	Benign
6	87256806	T	C	T87256806C	ZNF292	NM_015021.3(ZNF292):c.3177T>C:p.Asn1059_Leu1060=	coding	Benign
6	87258036	A	G	A87258036G	ZNF292	NM_015021.3(ZNF292):c.4407A>G:p.Thr1469_Phe1470=	coding	Benign
6	87258521	G	A	G87258521A	ZNF292	NM_015021.3(ZNF292):c.4892G>A:p.Arg1631Lys	coding	Benign
6	87258847	A	G	A87258847G	ZNF292	NM_015021.3(ZNF292):c.5218A>G:p.Ile1740Val	coding	Benign
6	87259762	G	A	G87259762A	ZNF292	NM_015021.3(ZNF292):c.6133G>A:p.Val2045Ile	coding	Benign
6	87259909	C	T	C87259909T	ZNF292	NM_015021.3(ZNF292):c.6280C>T:p.Arg2094Ter	coding	Pathogenic
6	87260019	C	T	C87260019T	ZNF292	NM_015021.3(ZNF292):c.6390C>T:p.Asn2130=	coding	Benign
6	87260452	C	T	C87260452T	ZNF292	NM_015021.3(ZNF292):c.6823C>T:p.Arg2275Ter	coding	Pathogenic
6	87260972	T	G	T87260972G	ZNF292	NM_015021.3(ZNF292):c.7343T>G:p.Val2448Gly	coding	Benign
6	87261127	G	A	G87261127A	ZNF292	NM_015021.3(ZNF292):c.7498G>A:p.Val2500Ile	coding	Benign
6	87472721	T	C	T87472721C	SLC35A1	Single_allele	noncoding	Benign
6	87473038	G	A	G87473038A	SLC35A1	NM_006416.5(SLC35A1):c.16+19G>A	noncoding	Benign
6	87473040	G	T	G87473040T	SLC35A1	NM_006416.5(SLC35A1):c.16+21G>T	noncoding	Benign
6	87473325	G	C	G87473325C	SLC35A1	NM_006416.5(SLC35A1):c.16+306G>C	noncoding	Benign
6	87477213	C	T	C87477213T	SLC35A1	NM_006416.5(SLC35A1):c.17-149C>T	noncoding	Benign
6	87477214	A	G	A87477214G	SLC35A1	NM_006416.5(SLC35A1):c.17-148A>G	noncoding	Benign
6	87477792	C	T	C87477792T	SLC35A1	NM_006416.5(SLC35A1):c.194+253C>T	noncoding	Benign
6	87501242	T	C	T87501242C	SLC35A1	NM_006416.5(SLC35A1):c.439T>C:p.Ser147Pro	coding	Pathogenic
6	87508299	A	C	A87508299C	SLC35A1	NM_006416.5(SLC35A1):c.575-121A>C	noncoding	Benign
6	87514298	C	T	C87514298T	RARS2	NM_020320.5(RARS2):c.*115G>A	noncoding	Benign
6	87514749	G	A	G87514749A	RARS2	NM_020320.5(RARS2):c.1650+208C>T	noncoding	Benign
6	87514777	T	C	T87514777C	RARS2	NM_020320.5(RARS2):c.1650+180A>G	noncoding	Benign
6	87518248	C	A	C87518248A	RARS2	NM_020320.5(RARS2):c.1432G>T:p.Gly478Ter	coding	Pathogenic
6	87518655	G	A	G87518655A	RARS2	NM_020320.5(RARS2):c.1390C>T:p.Gln464Ter	coding	Pathogenic
6	87518883	C	A	C87518883A	RARS2	NM_020320.5(RARS2):c.1246G>T:p.Glu416Ter	coding	Pathogenic
6	87519184	A	G	A87519184G	RARS2	NM_020320.5(RARS2):c.1238-293T>C	noncoding	Benign
6	87519414	A	G	A87519414G	RARS2	NM_020320.5(RARS2):c.1237+169T>C	noncoding	Benign
6	87521502	G	A	G87521502A	RARS2	NM_020320.5(RARS2):c.997C>T:p.Arg333Ter	coding	Pathogenic
6	87521725	A	G	A87521725G	RARS2	NM_020320.5(RARS2):c.975-201T>C	noncoding	Benign
6	87524825	C	T	C87524825T	RARS2	NM_020320.5(RARS2):c.879-173G>A	noncoding	Benign
6	87529572	A	T	A87529572T	RARS2	NM_020320.5(RARS2):c.848T>A:p.Leu283Gln	coding	Pathogenic/Likely_pathogenic
6	87530484	A	C	A87530484C	RARS2	NM_020320.5(RARS2):c.771+300T>G	noncoding	Benign
6	87530833	C	T	C87530833T	RARS2	NM_020320.5(RARS2):c.722G>A:p.Trp241Ter	coding	Pathogenic
6	87530839	G	C	G87530839C	RARS2	NM_020320.5(RARS2):c.716C>G:p.Ser239Ter	coding	Pathogenic
6	87530885	G	A	G87530885A	RARS2	NM_020320.5(RARS2):c.670C>T:p.Gln224Ter	coding	Pathogenic
6	87530933	G	A	G87530933A	RARS2	NM_020320.5(RARS2):c.622C>T:p.Gln208Ter	coding	Pathogenic
6	87534869	G	A	G87534869A	RARS2	NM_020320.5(RARS2):c.613-3927C>T	noncoding	Pathogenic
6	87535079	G	A	G87535079A	RARS2	NM_020320.5(RARS2):c.613-4137C>T	noncoding	Benign
6	87542151	T	A	T87542151A	RARS2	NM_020320.5(RARS2):c.536-157A>T	noncoding	Benign
6	87545487	A	G	A87545487G	RARS2	NM_020320.5(RARS2):c.535+129T>C	noncoding	Benign
6	87548451	C	T	C87548451T	RARS2	NM_020320.5(RARS2):c.451+140G>A	noncoding	Benign
6	87548620	T	C	T87548620C	RARS2	NM_020320.5(RARS2):c.422A>G:p.His141Arg	coding	Pathogenic
6	87548934	C	A	C87548934A	RARS2	NM_020320.5(RARS2):c.396-288G>T	noncoding	Benign
6	87562700	A	C	A87562700C	RARS2	NM_020320.5(RARS2):c.297+2T>G	noncoding	Pathogenic
6	87562701	C	T	C87562701T	RARS2	NM_020320.5(RARS2):c.297+1G>A	noncoding	Pathogenic
6	87564159	G	A	G87564159A	RARS2	NM_020320.5(RARS2):c.184C>T:p.Gln62Ter	coding	Pathogenic
6	87564253	G	A	G87564253A	RARS2	NM_020320.5(RARS2):c.111-21C>T	noncoding	Benign
6	87569926	T	C	T87569926C	RARS2	NM_020320.5(RARS2):c.37-336A>G	noncoding	Benign
6	87589945	A	G	A87589945G	RARS2	NM_020320.5(RARS2):c.13T>C:p.Phe5Leu	coding	Benign
6	87589949	G	T	G87589949T	RARS2	NM_020320.5(RARS2):c.9C>A:p.Cys3Ter	coding	Pathogenic
6	87589955	C	A	C87589955A	RARS2	NM_020320.5(RARS2):c.3G>T:p.Met1Ile	coding	Pathogenic
6	87589955	C	T	C87589955T	RARS2	NM_020320.5(RARS2):c.3G>A:p.Met1Ile	coding	Pathogenic
6	87590087	T	C	T87590087C	RARS2	Single_allele	noncoding	Benign
6	87590295	A	G	A87590295G	RARS2	NM_012381.4(ORC3):c.24+103A>G	noncoding	Benign
6	89257779	G	A	G89257779A	GABRR2	NM_002043.5(GABRR2):c.1289C>T:p.Thr430Met	coding	Benign
6	89387383	G	C	G89387383C	RRAGD	NM_021244.5(RRAGD):c.356C>G:p.Pro119Arg	coding	Pathogenic
6	89745365	A	G	A89745365G	MDN1	NM_014611.3(MDN1):c.4086T>C:p.His1362=	coding	Benign
6	89787870	A	C	A89787870C	MDN1	NM_014611.3(MDN1):c.1318T>G:p.Phe440Val	coding	Benign
6	89932639	G	A	G89932639A	BACH2	NM_021813.4(BACH2):c.2295C>T:p.Asn765=	coding	Benign
6	89932774	G	A	G89932774A	BACH2	NM_021813.4(BACH2):c.2160C>T:p.Pro720=	coding	Benign
6	89950546	G	C	G89950546C	BACH2	NM_021813.4(BACH2):c.1560C>G:p.Ser520=	coding	Benign
6	89950592	T	C	T89950592C	BACH2	NM_021813.4(BACH2):c.1514A>G:p.Lys505Arg	coding	Benign
6	89950600	T	C	T89950600C	BACH2	NM_021813.4(BACH2):c.1506A>G:p.Val502=	coding	Benign
6	89950603	C	T	C89950603T	BACH2	NM_021813.4(BACH2):c.1503G>A:p.Pro501=	coding	Benign
6	89950879	C	G	C89950879G	BACH2	NM_021813.4(BACH2):c.1227G>C:p.Ser409=	coding	Benign
6	89951035	G	A	G89951035A	BACH2	NM_021813.4(BACH2):c.1071C>T:p.Pro357=	coding	Benign
6	89951235	G	C	G89951235C	BACH2	NM_021813.4(BACH2):c.871C>G:p.Leu291Val	coding	Benign
6	89951254	A	G	A89951254G	BACH2	NM_021813.4(BACH2):c.852T>C:p.Asn284=	coding	Benign
6	89951776	G	A	G89951776A	BACH2	NM_021813.4(BACH2):c.330C>T:p.Ile110=	coding	Benign
6	89951857	T	C	T89951857C	BACH2	NM_021813.4(BACH2):c.249A>G:p.Thr83=	coding	Benign
6	90008677	G	A	G90008677A	BACH2	NM_021813.4(BACH2):c.168C>T:p.Ala56=	coding	Benign
6	90518704	A	G	A90518704G	MAP3K7	NM_145331.3(MAP3K7):c.1525-142T>C	noncoding	Benign
6	90519244	A	C	A90519244C	MAP3K7	NM_145331.3(MAP3K7):c.1524+14T>G	noncoding	Benign
6	90519336	T	A	T90519336A	MAP3K7	NM_145331.3(MAP3K7):c.1463-17A>T	noncoding	Benign
6	90523410	C	T	C90523410T	MAP3K7	NM_145331.3(MAP3K7):c.1462+268G>A	noncoding	Benign
6	90523732	G	T	G90523732T	MAP3K7	NM_145331.3(MAP3K7):c.1408C>A:p.Pro470Thr	coding	Benign
6	90536288	T	A	T90536288A	MAP3K7	NM_145331.3(MAP3K7):c.1356+49A>T	noncoding	Benign
6	90536383	C	T	C90536383T	MAP3K7	NM_145331.3(MAP3K7):c.1310G>A:p.Arg437His	coding	Benign
6	90544564	T	C	T90544564C	MAP3K7	NM_145331.3(MAP3K7):c.1279A>G:p.Ile427Val	coding	Benign
6	90547209	A	T	A90547209T	MAP3K7	NM_145331.3(MAP3K7):c.1210+49T>A	noncoding	Benign
6	90548027	C	G	C90548027G	MAP3K7	NM_145331.3(MAP3K7):c.1080+20G>C	noncoding	Benign
6	90548485	T	C	T90548485C	MAP3K7	NM_145331.3(MAP3K7):c.950-308A>G	noncoding	Benign
6	90550397	T	C	T90550397C	MAP3K7	NM_145331.3(MAP3K7):c.949+71A>G	noncoding	Benign
6	90550622	T	C	T90550622C	MAP3K7	NM_145331.3(MAP3K7):c.868-73A>G	noncoding	Benign
6	90552141	T	C	T90552141C	MAP3K7	NM_145331.3(MAP3K7):c.775A>G:p.Ile259Val	coding	Benign
6	90553196	C	T	C90553196T	MAP3K7	NM_145331.3(MAP3K7):c.736+262G>A	noncoding	Benign
6	90553578	A	C	A90553578C	MAP3K7	NM_145331.3(MAP3K7):c.616T>G:p.Tyr206Asp	coding	Pathogenic
6	90553895	T	C	T90553895C	MAP3K7	NM_145331.3(MAP3K7):c.608-309A>G	noncoding	Benign
6	90556631	A	T	A90556631T	MAP3K7	NM_145331.3(MAP3K7):c.483-7T>A	noncoding	Benign
6	90559791	C	A	C90559791A	MAP3K7	NM_145331.3(MAP3K7):c.482+285G>T	noncoding	Benign
6	90561682	T	C	T90561682C	MAP3K7	NM_145331.3(MAP3K7):c.298-15A>G	noncoding	Benign
6	90561828	G	A	G90561828A	MAP3K7	NM_145331.3(MAP3K7):c.298-161C>T	noncoding	Benign
6	90568701	T	C	T90568701C	MAP3K7	NM_145331.3(MAP3K7):c.232-78A>G	noncoding	Benign
6	90568763	C	T	C90568763T	MAP3K7	NM_145331.3(MAP3K7):c.232-140G>A	noncoding	Benign
6	90568832	C	G	C90568832G	MAP3K7	NM_145331.3(MAP3K7):c.232-209G>C	noncoding	Benign
6	90571758	G	C	G90571758C	MAP3K7	NM_145331.3(MAP3K7):c.170C>G:p.Ala57Gly	coding	Benign
6	90571983	A	G	A90571983G	MAP3K7	NM_145331.3(MAP3K7):c.121-176T>C	noncoding	Benign
6	90586701	C	G	C90586701G	MAP3K7	NM_145331.3(MAP3K7):c.120+63G>C	noncoding	Benign
6	90586858	G	A	G90586858A	MAP3K7	NM_145331.3(MAP3K7):c.26C>T:p.Ser9Phe	coding	Benign
6	90587361	C	T	C90587361T	MAP3K7	Single_allele	noncoding	Benign
6	90587410	C	G	C90587410G	MAP3K7	Single_allele	noncoding	Benign
6	93258133	C	T	C93258133T	EPHA7	NM_004440.4(EPHA7):c.2076G>A:p.Pro692=	coding	Benign
6	93410474	G	A	G93410474A	EPHA7	NM_004440.4(EPHA7):c.832+27C>T	coding	Benign
6	93410501	G	A	G93410501A	EPHA7	NM_004440.4(EPHA7):c.832C>T:p.Pro278Ser	coding	Benign
6	96897902	C	G	C96897902G	NDUFAF4	Single_allele	noncoding	Benign
6	96898025	A	G	A96898025G	NDUFAF4	Single_allele	noncoding	Benign
6	98874478	C	T	C98874478T	FBXL4	NM_001278716.2(FBXL4):c.1703-37G>A	noncoding	Benign
6	98875419	T	C	T98875419C	FBXL4	NM_001278716.2(FBXL4):c.1698A>G:p.Ile566Met	coding	Pathogenic/Likely_pathogenic
6	98899059	G	C	G98899059C	FBXL4	NM_001278716.2(FBXL4):c.1317+209C>G	coding	Benign
6	98899353	C	T	C98899353T	FBXL4	NM_001278716.2(FBXL4):c.1232G>A:p.Cys411Tyr	coding	Pathogenic/Likely_pathogenic
6	98917705	C	T	C98917705T	FBXL4	NM_001278716.2(FBXL4):c.527G>A:p.Trp176Ter	coding	Pathogenic
6	98926183	C	T	C98926183T	FBXL4	NM_001278716.2(FBXL4):c.512+294G>A	noncoding	Benign
6	98926689	A	C	A98926689C	FBXL4	NM_001278716.2(FBXL4):c.300T>G:p.Tyr100Ter	coding	Pathogenic
6	98926944	A	C	A98926944C	FBXL4	NM_001278716.2(FBXL4):c.45T>G:p.Tyr15Ter	coding	Pathogenic
6	98927762	G	T	G98927762T	FBXL4	NM_001278716.2(FBXL4):c.-130C>A	noncoding	Benign
6	99435828	T	C	T99435828C	USP45	NM_001346022.3(USP45):c.2333A>G:p.Asn778Ser	coding	Benign
6	99446062	T	C	T99446062C	USP45	NM_001346022.3(USP45):c.1710A>G:p.Gly570=	coding	Benign
6	99446210	C	G	C99446210G	USP45	NM_001346022.3(USP45):c.1562G>C:p.Arg521Thr	coding	Benign
6	99464659	A	G	A99464659G	USP45	NM_001346022.3(USP45):c.1253T>C:p.Ile418Thr	coding	Benign
6	99503874	G	A	G99503874A	USP45	NM_001346022.3(USP45):c.378-9C>T	noncoding	Benign
6	99508684	T	C	T99508684C	USP45	NM_001346022.3(USP45):c.199A>G:p.Lys67Glu	coding	Benign
6	99593098	A	C	A99593098C	LOC111365204;PRDM13	NC_000006.12:g.99593098A>C	noncoding	Pathogenic/Likely_pathogenic
6	99607040	C	T	C99607040T	PRDM13	NM_021620.4(PRDM13):c.6C>T:p.His2=	coding	Benign
6	99613123	G	C	G99613123C	PRDM13	NM_021620.4(PRDM13):c.488G>C:p.Ser163Thr	coding	Benign
6	99613244	C	T	C99613244T	PRDM13	NM_021620.4(PRDM13):c.609C>T:p.Ser203=	coding	Benign
6	99613274	G	A	G99613274A	PRDM13	NM_021620.4(PRDM13):c.639G>A:p.Leu213=	coding	Benign
6	99613277	C	A	C99613277A	PRDM13	NM_021620.4(PRDM13):c.642C>A:p.Gly214=	coding	Benign
6	99613345	C	T	C99613345T	PRDM13	NM_021620.4(PRDM13):c.710C>T:p.Ala237Val	coding	Benign
6	99613475	G	T	G99613475T	PRDM13	NM_021620.4(PRDM13):c.840G>T:p.Ala280=	coding	Benign
6	99613499	C	T	C99613499T	PRDM13	NM_021620.4(PRDM13):c.864C>T:p.Tyr288=	coding	Benign
6	99613521	A	C	A99613521C	PRDM13	NM_021620.4(PRDM13):c.886A>C:p.Lys296Gln	coding	Benign
6	99613553	C	G	C99613553G	PRDM13	NM_021620.4(PRDM13):c.918C>G:p.Ala306=	coding	Benign
6	99613629	G	A	G99613629A	PRDM13	NM_021620.4(PRDM13):c.994G>A:p.Gly332Arg	coding	Benign
6	99613896	G	A	G99613896A	PRDM13	NM_021620.4(PRDM13):c.1261G>A:p.Ala421Thr	coding	Benign
6	99613967	C	G	C99613967G	PRDM13	NM_021620.4(PRDM13):c.1332C>G:p.Leu444=	coding	Benign
6	99614607	C	G	C99614607G	PRDM13	NM_021620.4(PRDM13):c.1972C>G:p.Leu658Val	coding	Benign
6	100391287	T	C	T100391287C	SIM1	NM_005068.3(SIM1):c.1571-196A>G	noncoding	Benign
6	100391418	T	C	T100391418C	SIM1	NM_005068.3(SIM1):c.1571-327A>G	noncoding	Benign
6	100393353	G	T	G100393353T	SIM1	NM_005068.3(SIM1):c.1570+134C>A	noncoding	Benign
6	100420616	A	T	A100420616T	SIM1	NM_005068.3(SIM1):c.1167+174T>A	noncoding	Benign
6	100447468	C	T	C100447468T	SIM1	NM_005068.3(SIM1):c.851-53G>A	noncoding	Benign
6	100447586	G	T	G100447586T	SIM1	NM_005068.3(SIM1):c.851-171C>A	noncoding	Benign
6	100448367	A	G	A100448367G	SIM1	NM_005068.3(SIM1):c.743+112T>C	noncoding	Benign
6	100448413	T	G	T100448413G	SIM1	NM_005068.3(SIM1):c.743+66A>C	noncoding	Benign
6	100652907	T	C	T100652907C	ASCC3	NM_006828.4(ASCC3):c.2824-18A>G	noncoding	Benign
6	101928516	G	A	G101928516A	GRIK2	NM_021956.5(GRIK2):c.1969G>A:p.Ala657Thr	coding	Pathogenic/Likely_pathogenic
6	101928642	G	A	G101928642A	GRIK2	NM_021956.5(GRIK2):c.2085+10G>A	noncoding	Benign
6	102055321	C	T	C102055321T	GRIK2	NM_021956.5(GRIK2):c.2312-9C>T	noncoding	Benign
6	102055442	G	A	G102055442A	GRIK2	NM_021956.5(GRIK2):c.2424G>A:p.Glu808=	coding	Benign
6	104744140	A	T	A104744140T	HACE1	NM_020771.4(HACE1):c.2513+20T>A	noncoding	Benign
6	104750392	A	G	A104750392G	HACE1	NM_020771.4(HACE1):c.2292T>C:p.Phe764=	coding	Benign
6	104771898	T	C	T104771898C	HACE1	NM_020771.4(HACE1):c.2014+27A>G	noncoding	Benign
6	104777337	T	C	T104777337C	HACE1	NM_020771.4(HACE1):c.1567-20A>G	noncoding	Benign
6	104796651	A	T	A104796651T	HACE1	NM_020771.4(HACE1):c.816+4T>A	noncoding	Benign
6	104843270	C	A	C104843270A	HACE1	NM_020771.4(HACE1):c.355G>T:p.Glu119Ter	coding	Pathogenic
6	104849229	C	T	C104849229T	HACE1	NM_020771.4(HACE1):c.239G>A:p.Cys80Tyr	coding	Pathogenic
6	104850976	G	C	G104850976C	HACE1	NM_020771.4(HACE1):c.152C>G:p.Ser51Ter	coding	Pathogenic
6	104852375	A	G	A104852375G	HACE1	NM_020771.4(HACE1):c.77-4T>C	noncoding	Benign
6	104859560	G	A	G104859560A	HACE1	NM_020771.4(HACE1):c.76+7C>T	noncoding	Benign
6	105100975	C	T	C105100975T	BVES	NM_001199563.2(BVES):c.*114G>A	noncoding	Benign
6	105115802	A	G	A105115802G	BVES	NM_001199563.2(BVES):c.842T>C:p.Leu281Pro	coding	Benign/Likely_benign
6	105116015	C	A	C105116015A	BVES	NM_001199563.2(BVES):c.817-188G>T	noncoding	Benign
6	105124224	T	C	T105124224C	BVES	NM_001199563.2(BVES):c.648+323A>G	noncoding	Benign
6	105124617	A	C	A105124617C	BVES	NM_001199563.2(BVES):c.578T>G:p.Ile193Ser	coding	Pathogenic
6	105124933	A	G	A105124933G	BVES	NM_001199563.2(BVES):c.540-278T>C	noncoding	Benign
6	105125229	T	C	T105125229C	BVES	NM_001199563.2(BVES):c.539+162A>G	noncoding	Benign
6	105129079	C	G	C105129079G	BVES	NM_001199563.2(BVES):c.351+300G>C	noncoding	Benign
6	105129297	A	G	A105129297G	BVES	NM_001199563.2(BVES):c.351+82T>C	noncoding	Benign
6	105129324	C	T	C105129324T	BVES	NM_001199563.2(BVES):c.351+55G>A	noncoding	Benign
6	105129349	A	C	A105129349C	BVES	NM_001199563.2(BVES):c.351+30T>G	noncoding	Benign
6	105129526	C	T	C105129526T	BVES	NM_001199563.2(BVES):c.227-23G>A	noncoding	Benign
6	105133598	C	G	C105133598G	BVES	NM_001199563.2(BVES):c.-11-10G>C	noncoding	Benign
6	105133896	A	T	A105133896T	BVES	NM_001199563.2(BVES):c.-11-308T>A	noncoding	Benign
6	105158927	G	A	G105158927A	POPDC3	NM_022361.5(POPDC3):c.595-176C>T	noncoding	Benign
6	105161261	T	C	T105161261C	POPDC3	NM_022361.5(POPDC3):c.485+164A>G	noncoding	Benign
6	105161325	C	T	C105161325T	POPDC3	NM_022361.5(POPDC3):c.485+100G>A	noncoding	Benign
6	105161593	C	T	C105161593T	POPDC3	NM_022361.5(POPDC3):c.317G>A:p.Arg106Gln	coding	Benign
6	106099497	C	G	C106099497G	PRDM1	NM_001198.4(PRDM1):c.609C>G:p.Asp203Glu	coding	Benign
6	106571760	A	G	A106571760G	RTN4IP1	NM_032730.5(RTN4IP1):c.*236T>C	noncoding	Benign
6	106571786	T	C	T106571786C	RTN4IP1	NM_032730.5(RTN4IP1):c.*210A>G	noncoding	Benign
6	106571791	A	G	A106571791G	RTN4IP1	NM_032730.5(RTN4IP1):c.*205T>C	noncoding	Benign
6	106572005	A	G	A106572005G	RTN4IP1	NM_032730.5(RTN4IP1):c.1182T>C:p.Asn394=	coding	Benign
6	106572025	G	A	G106572025A	RTN4IP1	NM_032730.5(RTN4IP1):c.1162C>T:p.Arg388Ter	coding	Pathogenic
6	106572119	G	T	G106572119T	RTN4IP1	NM_032730.5(RTN4IP1):c.1084-16C>A	noncoding	Benign
6	106572213	A	G	A106572213G	RTN4IP1	NM_032730.5(RTN4IP1):c.1084-110T>C	noncoding	Benign
6	106572217	G	A	G106572217A	RTN4IP1	NM_032730.5(RTN4IP1):c.1084-114C>T	noncoding	Benign
6	106572314	C	T	C106572314T	RTN4IP1	NM_032730.5(RTN4IP1):c.1084-211G>A	noncoding	Benign
6	106583361	T	C	T106583361C	RTN4IP1	NM_032730.5(RTN4IP1):c.1050A>G:p.Leu350=	coding	Benign
6	106583436	C	T	C106583436T	RTN4IP1	NM_032730.5(RTN4IP1):c.991-16G>A	noncoding	Benign
6	106587576	C	T	C106587576T	RTN4IP1	NM_032730.5(RTN4IP1):c.990+103G>A	noncoding	Benign
6	106587707	C	T	C106587707T	RTN4IP1	NM_032730.5(RTN4IP1):c.962G>A:p.Gly321Glu	coding	Pathogenic
6	106587791	G	C	G106587791C	RTN4IP1	NM_032730.5(RTN4IP1):c.878C>G:p.Ser293Ter	coding	Pathogenic
6	106588055	T	C	T106588055C	RTN4IP1	NM_032730.5(RTN4IP1):c.807-193A>G	noncoding	Benign
6	106592163	C	T	C106592163T	RTN4IP1	NM_032730.5(RTN4IP1):c.806+1G>A	noncoding	Pathogenic
6	106592196	T	G	T106592196G	RTN4IP1	NM_032730.5(RTN4IP1):c.774A>C:p.Gly258=	coding	Benign
6	106602942	A	G	A106602942G	RTN4IP1	NM_032730.5(RTN4IP1):c.621-20T>C	noncoding	Benign
6	106602992	A	T	A106602992T	RTN4IP1	NM_032730.5(RTN4IP1):c.621-70T>A	noncoding	Benign
6	106619006	G	A	G106619006A	RTN4IP1	NM_032730.5(RTN4IP1):c.620+196C>T	noncoding	Benign
6	106619098	C	T	C106619098T	RTN4IP1	NM_032730.5(RTN4IP1):c.620+104G>A	noncoding	Benign
6	106619322	G	A	G106619322A	RTN4IP1	NM_032730.5(RTN4IP1):c.500C>T:p.Ser167Phe	coding	Pathogenic
6	106621357	G	A	G106621357A	RTN4IP1	NM_032730.5(RTN4IP1):c.495+68C>T	noncoding	Benign
6	106621398	T	C	T106621398C	RTN4IP1	NM_032730.5(RTN4IP1):c.495+27A>G	noncoding	Benign
6	106621488	C	T	C106621488T	RTN4IP1	NM_032730.5(RTN4IP1):c.432G>A:p.Trp144Ter	coding	Pathogenic
6	106621535	T	C	T106621535C	RTN4IP1	NM_032730.5(RTN4IP1):c.427-42A>G	noncoding	Benign
6	106621547	G	A	G106621547A	RTN4IP1	NM_032730.5(RTN4IP1):c.427-54C>T	noncoding	Benign
6	106621576	T	G	T106621576G	RTN4IP1	NM_032730.5(RTN4IP1):c.427-83A>C	noncoding	Benign
6	106622802	G	A	G106622802A	RTN4IP1	NM_032730.5(RTN4IP1):c.426+16C>T	noncoding	Benign
6	106622904	C	A	C106622904A	RTN4IP1	NM_032730.5(RTN4IP1):c.340G>T:p.Glu114Ter	coding	Pathogenic
6	106623051	A	G	A106623051G	RTN4IP1	NM_032730.5(RTN4IP1):c.275-82T>C	noncoding	Benign
6	106628812	A	G	A106628812G	RTN4IP1	NM_032730.5(RTN4IP1):c.210T>C:p.Tyr70=	coding	Benign
6	106628821	G	A	G106628821A	RTN4IP1	NM_032730.5(RTN4IP1):c.201C>T:p.Ile67=	coding	Benign
6	106628908	A	T	A106628908T	RTN4IP1	NM_032730.5(RTN4IP1):c.114T>A:p.Pro38=	coding	Benign
6	106628956	G	C	G106628956C	RTN4IP1	NM_032730.5(RTN4IP1):c.66C>G:p.Ser22Arg	coding	Benign
6	106628963	C	T	C106628963T	RTN4IP1	NM_032730.5(RTN4IP1):c.59G>A:p.Trp20Ter	coding	Pathogenic
6	106629020	A	G	A106629020G	RTN4IP1	NM_032730.5(RTN4IP1):c.2T>C:p.Met1Thr	coding	Pathogenic
6	106629533	C	T	C106629533T	QRSL1	NM_001318746.1(RTN4IP1):c.-27+794G>A	noncoding	Benign
6	106629627	G	A	G106629627A	QRSL1	NM_018292.5(QRSL1):c.-55G>A	noncoding	Benign
6	106629675	G	A	G106629675A	QRSL1	NM_018292.5(QRSL1):c.-7G>A	noncoding	Benign
6	106629722	C	T	C106629722T	QRSL1	NM_018292.5(QRSL1):c.24+17C>T	noncoding	Benign
6	106640356	C	T	C106640356T	QRSL1	NM_018292.5(QRSL1):c.32C>T:p.Ala11Val	coding	Benign
6	106640710	T	A	T106640710A	QRSL1	NM_018292.5(QRSL1):c.185-113T>A	noncoding	Benign
6	106648978	A	C	A106648978C	QRSL1	NM_018292.5(QRSL1):c.381-47A>C	noncoding	Benign
6	106649017	G	A	G106649017A	QRSL1	NM_018292.5(QRSL1):c.381-8G>A	noncoding	Benign
6	106649184	G	A	G106649184A	QRSL1	NM_018292.5(QRSL1):c.540G>A:p.Ser180=	coding	Benign
6	106652521	A	G	A106652521G	QRSL1	NM_018292.5(QRSL1):c.788A>G:p.Asn263Ser	coding	Benign
6	106652608	C	T	C106652608T	QRSL1	NM_018292.5(QRSL1):c.849+26C>T	noncoding	Benign
6	106655604	C	T	C106655604T	QRSL1	NM_018292.5(QRSL1):c.1043-11C>T	noncoding	Benign
6	106655635	G	T	G106655635T	QRSL1	NM_018292.5(QRSL1):c.1063G>T:p.Val355Leu	coding	Benign
6	106655746	T	G	T106655746G	QRSL1	NM_018292.5(QRSL1):c.1160+14T>G	noncoding	Benign
6	106663209	T	G	T106663209G	QRSL1	NM_018292.5(QRSL1):c.1366+24T>G	noncoding	Benign
6	106665528	T	G	T106665528G	QRSL1	NM_018292.5(QRSL1):c.1367-254T>G	noncoding	Benign
6	106665634	A	G	A106665634G	QRSL1	NM_018292.5(QRSL1):c.1367-148A>G	noncoding	Benign
6	106665743	G	A	G106665743A	QRSL1	NM_018292.5(QRSL1):c.1367-39G>A	noncoding	Benign
6	106665840	G	A	G106665840A	QRSL1	NM_018292.5(QRSL1):c.1425G>A:p.Leu475=	coding	Benign
6	106666078	C	G	C106666078G	QRSL1	NM_018292.5(QRSL1):c.*76C>G	noncoding	Benign
6	106666088	C	T	C106666088T	QRSL1	NM_018292.5(QRSL1):c.*86C>T	noncoding	Benign
6	106666092	T	A	T106666092A	QRSL1	NM_018292.5(QRSL1):c.*90T>A	noncoding	Benign
6	107154308	C	T	C107154308T	PDSS2	NM_020381.4(PDSS2):c.*311G>A	noncoding	Benign
6	107154685	G	A	G107154685A	PDSS2	NM_020381.4(PDSS2):c.1134C>T:p.Ser378=	coding	Benign/Likely_benign
6	107193868	G	C	G107193868C	PDSS2	NM_020381.4(PDSS2):c.1009-14C>G	noncoding	Benign/Likely_benign
6	107210610	T	C	T107210610C	PDSS2	NM_020381.4(PDSS2):c.877-40A>G	noncoding	Benign
6	107245742	A	G	A107245742G	PDSS2	NM_020381.4(PDSS2):c.631-123T>C	noncoding	Benign
6	107334154	A	C	A107334154C	PDSS2	NM_020381.4(PDSS2):c.431+44T>G	noncoding	Benign
6	107459619	T	C	T107459619C	PDSS2	Single_allele	noncoding	Benign
6	107871944	C	T	C107871944T	SEC63	NM_007214.5(SEC63):c.2140-97G>A	noncoding	Benign
6	107872521	T	C	T107872521C	SEC63	NM_007214.5(SEC63):c.2139+287A>G	noncoding	Benign
6	107873037	T	C	T107873037C	SEC63	NM_007214.5(SEC63):c.2035-125A>G	noncoding	Benign
6	107876794	A	G	A107876794G	SEC63	NM_007214.5(SEC63):c.1936-132T>C	noncoding	Benign
6	107876848	T	C	T107876848C	SEC63	NM_007214.5(SEC63):c.1936-186A>G	noncoding	Benign
6	107881189	G	T	G107881189T	SEC63	NM_007214.5(SEC63):c.1895C>A:p.Ser632Ter	coding	Pathogenic
6	107881220	G	A	G107881220A	SEC63	NM_007214.5(SEC63):c.1864C>T:p.Arg622Ter	coding	Pathogenic
6	107882736	C	A	C107882736A	SEC63	NM_007214.5(SEC63):c.1833+252G>T	noncoding	Benign
6	107883011	T	A	T107883011A	SEC63	NM_007214.5(SEC63):c.1810A>T:p.Lys604Ter	coding	Pathogenic
6	107893579	G	T	G107893579T	SEC63	NM_007214.5(SEC63):c.1577C>A:p.Ser526Ter	coding	Pathogenic
6	107894157	A	G	A107894157G	SEC63	NM_007214.5(SEC63):c.1441-260T>C	noncoding	Benign
6	107897859	T	C	T107897859C	SEC63	NM_007214.5(SEC63):c.1358-128A>G	noncoding	Benign
6	107901478	C	A	C107901478A	SEC63	NM_007214.5(SEC63):c.1249G>T:p.Glu417Ter	coding	Pathogenic
6	107903218	A	C	A107903218C	SEC63	NM_007214.5(SEC63):c.1055-220T>G	noncoding	Benign
6	107904660	G	T	G107904660T	SEC63	NM_007214.5(SEC63):c.1023C>A:p.Cys341Ter	coding	Pathogenic
6	107906434	G	A	G107906434A	SEC63	NM_007214.5(SEC63):c.961+14C>T	noncoding	Benign
6	107906451	C	A	C107906451A	SEC63	NM_007214.5(SEC63):c.958G>T:p.Glu320Ter	coding	Pathogenic
6	107908945	G	A	G107908945A	SEC63	NM_007214.5(SEC63):c.715C>T:p.Arg239Ter	coding	Pathogenic
6	107909024	C	T	C107909024T	SEC63	NM_007214.5(SEC63):c.636G>A:p.Trp212Ter	coding	Pathogenic
6	107911038	G	A	G107911038A	SEC63	NM_007214.5(SEC63):c.624+308C>T	noncoding	Benign
6	107911455	T	A	T107911455A	SEC63	NM_007214.5(SEC63):c.574-59A>T	noncoding	Benign
6	107912781	T	C	T107912781C	SEC63	NM_007214.5(SEC63):c.515-7A>G	noncoding	Benign
6	107912792	T	C	T107912792C	SEC63	NM_007214.5(SEC63):c.515-18A>G	noncoding	Benign
6	107921886	T	C	T107921886C	SEC63	NM_007214.5(SEC63):c.363A>G:p.Lys121=	coding	Benign
6	107921916	A	G	A107921916G	SEC63	NM_007214.5(SEC63):c.340-7T>C	noncoding	Benign/Likely_benign
6	107921917	A	G	A107921917G	SEC63	NM_007214.5(SEC63):c.340-8T>C	noncoding	Benign/Likely_benign
6	107921919	A	G	A107921919G	SEC63	NM_007214.5(SEC63):c.340-10T>C	noncoding	Benign/Likely_benign
6	107921920	A	G	A107921920G	SEC63	NM_007214.5(SEC63):c.340-11T>C	noncoding	Benign/Likely_benign
6	107922053	A	C	A107922053C	SEC63	NM_007214.5(SEC63):c.340-144T>G	noncoding	Benign
6	107924865	G	A	G107924865A	SEC63	NM_007214.5(SEC63):c.292C>T:p.Arg98Ter	coding	Pathogenic
6	107925094	G	A	G107925094A	SEC63	NM_007214.5(SEC63):c.225-162C>T	noncoding	Benign
6	107929310	T	C	T107929310C	SEC63	NM_007214.5(SEC63):c.224+105A>G	noncoding	Benign
6	107929465	C	T	C107929465T	SEC63	NM_007214.5(SEC63):c.174G>A:p.Trp58Ter	coding	Pathogenic
6	107929506	G	A	G107929506A	SEC63	NM_007214.5(SEC63):c.133C>T:p.Arg45Ter	coding	Pathogenic
6	107957792	G	A	G107957792A	SEC63	NM_007214.5(SEC63):c.124+94C>T	noncoding	Benign
6	107957866	C	T	C107957866T	SEC63	NM_007214.5(SEC63):c.124+20G>A	noncoding	Benign/Likely_benign
6	107957902	G	A	G107957902A	SEC63	NM_007214.5(SEC63):c.108C>T:p.Pro36=	coding	Benign
6	107957905	C	T	C107957905T	SEC63	NM_007214.5(SEC63):c.105G>A:p.Trp35Ter	coding	Pathogenic
6	107958342	T	G	T107958342G	SEC63	Single_allele	noncoding	Benign
6	108045006	C	G	C108045006G	OSTM1	NM_014028.4(OSTM1):c.950-166G>C	noncoding	Benign
6	108051004	G	C	G108051004C	OSTM1	NM_014028.4(OSTM1):c.783+27C>G	noncoding	Benign
6	108054264	T	G	T108054264G	OSTM1	NM_014028.4(OSTM1):c.615+226A>C	noncoding	Benign
6	108054377	T	C	T108054377C	OSTM1	NM_014028.4(OSTM1):c.615+113A>G	noncoding	Benign
6	108054469	T	C	T108054469C	OSTM1	NM_014028.4(OSTM1):c.615+21A>G	noncoding	Benign
6	108054842	C	T	C108054842T	OSTM1	NM_014028.4(OSTM1):c.518-255G>A	noncoding	Benign
6	108064292	G	C	G108064292C	OSTM1	NM_014028.4(OSTM1):c.410C>G:p.Ser137Ter	coding	Pathogenic
6	108073983	C	G	C108073983G	OSTM1	NM_014028.4(OSTM1):c.402+267G>C	noncoding	Benign
6	108074352	C	A	C108074352A	OSTM1	NM_014028.4(OSTM1):c.300G>T:p.Gly100=	coding	Benign/Likely_benign
6	108074475	G	A	G108074475A	OSTM1	NM_014028.4(OSTM1):c.177C>T:p.Ser59=	coding	Benign
6	108074962	C	T	C108074962T	OSTM1	Single_allele	noncoding	Benign
6	108075062	G	T	G108075062T	OSTM1	Single_allele	noncoding	Benign
6	108587315	G	T	G108587315T	FOXO3	NM_001455.4(FOXO3):c.621+25486G>T	noncoding	Benign
6	108679539	A	G	A108679539G	FOXO3	NM_001455.4(FOXO3):c.*35-288A>G	noncoding	Benign
6	108682118	T	C	T108682118C	FOXO3	NM_001455.4(FOXO3):c.*2326T>C	noncoding	Benign
6	109368228	A	G	A109368228G	CD164	NM_006016.6(CD164):c.*623T>C	noncoding	Benign
6	109368478	T	C	T109368478C	CD164	NM_006016.6(CD164):c.*373A>G	coding	Benign
6	109368699	C	T	C109368699T	CD164	NM_006016.6(CD164):c.*152G>A	coding	Benign
6	109368704	G	T	G109368704T	CD164	NM_006016.6(CD164):c.*147C>A	coding	Benign
6	109370125	T	C	T109370125C	CD164	NM_006016.6(CD164):c.427+286A>G	noncoding	Benign
6	109370563	T	C	T109370563C	CD164	NM_006016.6(CD164):c.371-96A>G	noncoding	Benign
6	109370741	G	A	G109370741A	CD164	NM_006016.6(CD164):c.371-274C>T	noncoding	Benign
6	109375848	C	A	C109375848A	CD164	NM_006016.6(CD164):c.370+226G>T	noncoding	Benign
6	109376396	A	C	A109376396C	CD164	NM_006016.6(CD164):c.332-284T>G	noncoding	Benign
6	109378156	C	T	C109378156T	CD164	NM_006016.6(CD164):c.260-185G>A	noncoding	Benign
6	109378243	A	T	A109378243T	CD164	NM_006016.6(CD164):c.260-272T>A	noncoding	Benign
6	109379429	C	A	C109379429A	CD164	NM_006016.6(CD164):c.259+150G>T	noncoding	Benign
6	109379559	G	C	G109379559C	CD164	NM_006016.6(CD164):c.259+20C>G	noncoding	Benign
6	109379853	T	G	T109379853G	CD164	NM_006016.6(CD164):c.176-191A>C	noncoding	Benign
6	109381967	C	G	C109381967G	CD164	NM_006016.6(CD164):c.175+237G>C	noncoding	Benign
6	109382038	G	C	G109382038C	CD164	NM_006016.6(CD164):c.175+166C>G	noncoding	Benign
6	109382104	C	T	C109382104T	CD164	NM_006016.6(CD164):c.175+100G>A	noncoding	Benign
6	109382188	C	T	C109382188T	CD164	NM_006016.6(CD164):c.175+16G>A	noncoding	Benign
6	109382248	G	A	G109382248A	CD164	NM_006016.6(CD164):c.131C>T:p.Ser44Leu	coding	Benign/Likely_benign
6	109382480	G	C	G109382480C	CD164	Single_allele	noncoding	Benign
6	109382524	C	A	C109382524A	CD164	Single_allele	noncoding	Benign
6	109382859	A	G	A109382859G	CD164	Single_allele	noncoding	Benign
6	109382888	G	A	G109382888A	CD164	Single_allele	noncoding	Benign
6	109444275	C	A	C109444275A	MICAL1	NM_022765.4(MICAL1):c.3120G>T:p.Leu1040Phe	coding	Benign
6	109445236	C	T	C109445236T	MICAL1	NM_022765.4(MICAL1):c.2842G>A:p.Glu948Lys	coding	Benign
6	109445301	C	T	C109445301T	MICAL1	NM_022765.4(MICAL1):c.2788-11G>A	noncoding	Benign
6	109445751	C	T	C109445751T	MICAL1	NM_022765.4(MICAL1):c.2673+20G>A	noncoding	Benign
6	109445856	A	G	A109445856G	MICAL1	NM_022765.4(MICAL1):c.2588T>C:p.Val863Ala	coding	Benign
6	109446683	C	T	C109446683T	MICAL1	NM_022765.4(MICAL1):c.2304+13G>A	noncoding	Benign
6	109446727	G	T	G109446727T	MICAL1	NM_022765.4(MICAL1):c.2273C>A:p.Ala758Glu	coding	Benign
6	109446728	C	T	C109446728T	MICAL1	NM_022765.4(MICAL1):c.2272G>A:p.Ala758Thr	coding	Benign
6	109447092	G	A	G109447092A	MICAL1	NM_022765.4(MICAL1):c.2208C>T:p.Tyr736=	coding	Benign
6	109448256	A	C	A109448256C	MICAL1	NM_022765.4(MICAL1):c.1802T>G:p.Ile601Ser	coding	Benign
6	109448276	C	G	C109448276G	MICAL1	NM_022765.4(MICAL1):c.1782G>C:p.Gly594=	coding	Benign
6	109448797	C	T	C109448797T	MICAL1	NM_022765.4(MICAL1):c.1599G>A:p.Leu533=	coding	Benign
6	109449494	C	T	C109449494T	MICAL1	NM_022765.4(MICAL1):c.1435-13G>A	noncoding	Benign
6	109449666	G	A	G109449666A	MICAL1	NM_022765.4(MICAL1):c.1425C>T:p.Thr475=	coding	Benign
6	109449796	G	C	G109449796C	MICAL1	NM_022765.4(MICAL1):c.1308-13C>G	noncoding	Benign
6	109450103	T	C	T109450103C	MICAL1	NM_022765.4(MICAL1):c.1192-18A>G	noncoding	Benign
6	109450488	G	A	G109450488A	MICAL1	NM_022765.4(MICAL1):c.1003C>T:p.Arg335Trp	coding	Benign
6	109453387	A	G	A109453387G	MICAL1	NM_022765.4(MICAL1):c.467-20T>C	noncoding	Benign
6	109453816	C	A	C109453816A	MICAL1	NM_022765.4(MICAL1):c.288G>T:p.Gly96=	coding	Benign
6	109453946	C	A	C109453946A	MICAL1	NM_022765.4(MICAL1):c.251G>T:p.Ser84Ile	coding	Benign
6	109454074	G	A	G109454074A	MICAL1	NM_022765.4(MICAL1):c.123C>T:p.Pro41=	coding	Benign
6	109454163	C	T	C109454163T	MICAL1	NM_022765.4(MICAL1):c.34G>A:p.Ala12Thr	coding	Benign
6	109454233	T	C	T109454233C	MICAL1	NM_022765.4(MICAL1):c.-37A>G	coding	Benign
6	109454240	C	T	C109454240T	MICAL1	NM_022765.4(MICAL1):c.-43-1G>A	coding	Pathogenic
6	109466199	T	C	T109466199C	ZBTB24	NM_014797.3(ZBTB24):c.1746A>G:p.Gln582=	coding	Benign
6	109467638	T	A	T109467638A	ZBTB24	NM_014797.3(ZBTB24):c.1370+15A>T	noncoding	Benign
6	109476765	G	C	G109476765C	ZBTB24	NM_014797.3(ZBTB24):c.1118C>G:p.Ser373Ter	coding	Pathogenic
6	109476950	A	T	A109476950T	ZBTB24	NM_014797.3(ZBTB24):c.953-20T>A	noncoding	Benign
6	109481759	G	A	G109481759A	ZBTB24	NM_014797.3(ZBTB24):c.268C>T:p.Leu90=	coding	Benign
6	109564272	G	A	G109564272A	AK9	NM_001145128.3(AK9):c.2443C>T:p.Pro815Ser	coding	Benign
6	109564802	T	C	T109564802C	AK9	NM_001145128.3(AK9):c.2388A>G:p.Pro796=	coding	Benign
6	109691436	A	C	A109691436C	FIG4	NM_014845.6(FIG4):c.1A>C:p.Met1Leu	coding	Pathogenic
6	109714913	T	C	T109714913C	FIG4	NM_014845.6(FIG4):c.67-165T>C	noncoding	Benign
6	109716719	A	G	A109716719G	FIG4	NM_014845.6(FIG4):c.289+151A>G	noncoding	Benign
6	109732073	T	C	T109732073C	FIG4	NM_014845.6(FIG4):c.447-564T>C	noncoding	Benign
6	109732694	G	A	G109732694A	FIG4	NM_014845.6(FIG4):c.497+7G>A	noncoding	Benign
6	109732914	T	A	T109732914A	FIG4	NM_014845.6(FIG4):c.497+227T>A	noncoding	Benign
6	109732933	T	C	T109732933C	FIG4	NM_014845.6(FIG4):c.497+246T>C	noncoding	Benign
6	109735183	T	G	T109735183G	FIG4	NM_014845.6(FIG4):c.531T>G:p.Tyr177Ter	coding	Pathogenic
6	109735244	C	T	C109735244T	FIG4	NM_014845.6(FIG4):c.592C>T:p.Gln198Ter	coding	Pathogenic
6	109741348	G	T	G109741348T	FIG4	NM_014845.6(FIG4):c.776-96G>T	noncoding	Benign
6	109743108	A	C	A109743108C	FIG4	NM_014845.6(FIG4):c.877-2A>C	noncoding	Pathogenic/Likely_pathogenic
6	109743577	T	G	T109743577G	FIG4	NM_014845.6(FIG4):c.1040-98T>G	noncoding	Benign
6	109743731	C	T	C109743731T	FIG4	NM_014845.6(FIG4):c.1096C>T:p.Gln366Ter	coding	Pathogenic
6	109743883	G	A	G109743883A	FIG4	NM_014845.6(FIG4):c.1137+111G>A	noncoding	Benign
6	109762146	A	T	A109762146T	FIG4	NM_014845.6(FIG4):c.1327A>T:p.Lys443Ter	coding	Pathogenic
6	109762208	G	T	G109762208T	FIG4	NM_014845.6(FIG4):c.1388+1G>T	coding	Pathogenic
6	109764054	A	G	A109764054G	FIG4	NM_014845.6(FIG4):c.1434+72A>G	noncoding	Benign
6	109764757	T	C	T109764757C	FIG4	NM_014845.6(FIG4):c.1435-256T>C	noncoding	Benign
6	109766414	G	A	G109766414A	FIG4	NM_014845.6(FIG4):c.1584-315G>A	noncoding	Benign
6	109766645	T	A	T109766645A	FIG4	NM_014845.6(FIG4):c.1584-84T>A	noncoding	Benign
6	109766833	G	A	G109766833A	FIG4	NM_014845.6(FIG4):c.1688G>A:p.Trp563Ter	coding	Pathogenic
6	109776588	T	A	T109776588A	FIG4	NM_014845.6(FIG4):c.1751-334T>A	noncoding	Benign
6	109776933	C	T	C109776933T	FIG4	NM_014845.6(FIG4):c.1762C>T:p.Gln588Ter	coding	Pathogenic
6	109784869	G	T	G109784869T	FIG4	NM_014845.6(FIG4):c.1890-101G>T	noncoding	Benign
6	109785084	T	C	T109785084C	FIG4	NM_014845.6(FIG4):c.1948+56T>C	noncoding	Benign
6	109786181	G	A	G109786181A	FIG4	NM_014845.6(FIG4):c.1949-121G>A	noncoding	Benign
6	109791497	G	T	G109791497T	FIG4	NM_014845.6(FIG4):c.2302G>T:p.Glu768Ter	coding	Pathogenic
6	109792686	A	G	A109792686G	FIG4	NM_014845.6(FIG4):c.2459+22A>G	noncoding	Benign
6	109796638	C	T	C109796638T	FIG4	NM_014845.6(FIG4):c.2460-127C>T	noncoding	Benign
6	109796727	C	T	C109796727T	FIG4	NM_014845.6(FIG4):c.2460-38C>T	noncoding	Benign
6	110215286	C	G	C110215286G	CDC40	NM_015891.3(CDC40):c.943C>G:p.Leu315Val	coding	Benign
6	110228919	T	G	T110228919G	CDC40	NM_015891.3(CDC40):c.1505T>G:p.Phe502Cys	coding	Pathogenic/Likely_pathogenic
6	110815045	G	T	G110815045T	CDK19	NM_015076.5(CDK19):c.92C>A:p.Thr31Asn	coding	Pathogenic/Likely_pathogenic
6	111307394	C	G	C111307394G	REV3L	NM_001372078.1(REV3L):c.9219G>C:p.Arg3073=	coding	Benign
6	111307423	C	T	C111307423T	REV3L	NM_001372078.1(REV3L):c.9190G>A:p.Val3064Ile	coding	Benign
6	111482854	T	C	T111482854C	REV3L	NM_001372078.1(REV3L):c.35A>G:p.Tyr12Cys	coding	Benign
6	112054358	A	G	A112054358G	CCN6	NM_198239.2(CCN6):c.1A>G:p.Met1Val	coding	Pathogenic
6	112054441	G	A	G112054441A	CCN6	NM_198239.2(CCN6):c.48+36G>A	noncoding	Benign
6	112061022	T	A	T112061022A	CCN6	NM_198239.2(CCN6):c.80T>A:p.Leu27Ter	coding	Pathogenic
6	112061091	G	A	G112061091A	CCN6	NM_198239.2(CCN6):c.149G>A:p.Trp50Ter	coding	Pathogenic
6	112061284	T	G	T112061284G	CCN6	NM_198239.2(CCN6):c.342T>G:p.Cys114Trp	coding	Pathogenic
6	112061308	C	T	C112061308T	CCN6	NM_198239.2(CCN6):c.346+20C>T	noncoding	Benign
6	112061348	C	T	C112061348T	CCN6	NM_198239.2(CCN6):c.346+60C>T	noncoding	Benign
6	112064941	A	T	A112064941T	CCN6	NM_198239.2(CCN6):c.533A>T:p.Asn178Ile	coding	Benign/Likely_benign
6	112064997	G	C	G112064997C	CCN6	NM_198239.2(CCN6):c.589G>C:p.Ala197Pro	coding	Pathogenic/Likely_pathogenic
6	112068074	G	A	G112068074A	CCN6	NM_198239.2(CCN6):c.590-131G>A	noncoding	Benign
6	112068237	A	T	A112068237T	CCN6	NM_198239.2(CCN6):c.622A>T:p.Lys208Ter	coding	Pathogenic
6	112069252	C	T	C112069252T	CCN6	NM_198239.2(CCN6):c.784-87C>T	noncoding	Benign
6	112120265	T	C	T112120265C	LAMA4	NM_001105206.3(LAMA4):c.4665+18A>G	noncoding	Benign
6	112120269	T	C	T112120269C	LAMA4	NM_001105206.3(LAMA4):c.4665+14A>G	noncoding	Benign
6	112128906	C	T	C112128906T	LAMA4	NM_001105206.3(LAMA4):c.4287+16G>A	noncoding	Benign/Likely_benign
6	112130165	G	T	G112130165T	LAMA4	NM_001105206.3(LAMA4):c.3969-125C>A	noncoding	Benign
6	112132983	A	G	A112132983G	LAMA4	NM_001105206.3(LAMA4):c.3697-93T>C	noncoding	Benign
6	112133043	T	C	T112133043C	LAMA4	NM_001105206.3(LAMA4):c.3697-153A>G	noncoding	Benign
6	112134941	T	C	T112134941C	LAMA4	NM_001105206.3(LAMA4):c.3415-332A>G	noncoding	Benign
6	112135800	C	T	C112135800T	LAMA4	NM_001105206.3(LAMA4):c.3414+323G>A	noncoding	Benign
6	112136162	C	T	C112136162T	LAMA4	NM_001105206.3(LAMA4):c.3375G>A:p.Thr1125=	coding	Benign/Likely_benign
6	112139309	C	T	C112139309T	LAMA4	NM_001105206.3(LAMA4):c.3111-18G>A	noncoding	Benign/Likely_benign
6	112139735	T	C	T112139735C	LAMA4	NM_001105206.3(LAMA4):c.3110+17A>G	noncoding	Benign
6	112144951	T	A	T112144951A	LAMA4	NM_001105206.3(LAMA4):c.2354-18A>T	noncoding	Benign/Likely_benign
6	112150236	G	C	G112150236C	LAMA4	NM_001105206.3(LAMA4):c.2173+275C>G	noncoding	Benign
6	112150930	C	A	C112150930A	LAMA4	NM_001105206.3(LAMA4):c.2057-303G>T	noncoding	Benign
6	112154908	C	A	C112154908A	LAMA4	NM_001105206.3(LAMA4):c.1999G>T:p.Asp667Tyr	coding	Benign/Likely_benign
6	112154919	A	G	A112154919G	LAMA4	NM_001105206.3(LAMA4):c.1988T>C:p.Ile663Thr	coding	Benign/Likely_benign
6	112165148	G	A	G112165148A	LAMA4	NM_001105206.3(LAMA4):c.1668+12C>T	noncoding	Benign
6	112165195	G	A	G112165195A	LAMA4	NM_001105206.3(LAMA4):c.1633C>T:p.Arg545Cys	coding	Benign/Likely_benign
6	112181787	T	C	T112181787C	LAMA4	NM_001105206.3(LAMA4):c.1077+3450A>G	noncoding	Benign
6	112187614	C	T	C112187614T	LAMA4	NM_001105206.3(LAMA4):c.815-13G>A	noncoding	Benign/Likely_benign
6	112187754	T	G	T112187754G	LAMA4	NM_001105206.3(LAMA4):c.815-153A>C	noncoding	Benign
6	112191957	C	T	C112191957T	LAMA4	NM_001105206.3(LAMA4):c.504-107G>A	noncoding	Benign
6	112216266	G	A	G112216266A	LAMA4	NM_001105206.3(LAMA4):c.297+102C>T	noncoding	Benign
6	112216766	G	A	G112216766A	LAMA4	NM_001105206.3(LAMA4):c.196-297C>T	noncoding	Benign
6	116120105	A	G	A116120105G	COL10A1	NM_000493.4(COL10A1):c.2011T>C:p.Ser671Pro	coding	Pathogenic/Likely_pathogenic
6	116120127	G	C	G116120127C	COL10A1	NM_000493.4(COL10A1):c.1989C>G:p.Tyr663Ter	coding	Pathogenic
6	116120263	C	A	C116120263A	COL10A1	NM_000493.4(COL10A1):c.1853G>T:p.Gly618Val	coding	Pathogenic
6	116120283	C	T	C116120283T	COL10A1	NM_000493.4(COL10A1):c.1833G>A:p.Trp611Ter	coding	Pathogenic
6	116120344	C	A	C116120344A	COL10A1	NM_000493.4(COL10A1):c.1772G>T:p.Cys591Phe	coding	Pathogenic
6	116120752	C	A	C116120752A	COL10A1	NM_000493.4(COL10A1):c.1364G>T:p.Gly455Val	coding	Benign
6	116121018	T	G	T116121018G	COL10A1	NM_000493.4(COL10A1):c.1098A>C:p.Pro366=	coding	Benign
6	116121905	G	A	G116121905A	COL10A1	NM_000493.4(COL10A1):c.211C>T:p.Arg71Ter	coding	Pathogenic
6	116121958	A	C	A116121958C	COL10A1	NM_000493.4(COL10A1):c.158T>G:p.Ile53Arg	coding	Benign
6	116125235	G	A	G116125235A	COL10A1	NM_000493.4(COL10A1):c.154+104C>T	noncoding	Benign
6	116125333	A	G	A116125333G	COL10A1	NM_000493.4(COL10A1):c.154+6T>C	noncoding	Benign
6	116279290	C	T	C116279290T	TSPYL1	NM_003309.4(TSPYL1):c.541G>A:p.Ala181Thr	coding	Benign
6	116279453	C	A	C116279453A	TSPYL1	NM_003309.4(TSPYL1):c.378G>T:p.Gln126His	coding	Benign
6	116279611	C	G	C116279611G	TSPYL1	NM_003309.4(TSPYL1):c.220G>C:p.Ala74Pro	coding	Benign
6	116279647	G	A	G116279647A	TSPYL1	NM_003309.4(TSPYL1):c.184C>T:p.Pro62Ser	coding	Benign
6	116280122	G	C	G116280122C	DSE	NM_001080976.3(DSE):c.-192G>C	noncoding	Benign
6	116280369	A	G	A116280369G	DSE	NM_001080976.3(DSE):c.-54+109A>G	noncoding	Benign
6	116280394	A	G	A116280394G	DSE	NM_001080976.3(DSE):c.-54+134A>G	noncoding	Benign
6	116280444	A	T	A116280444T	DSE	NM_001080976.3(DSE):c.-54+184A>T	noncoding	Benign
6	116435504	G	A	G116435504A	DSE	NM_013352.4(DSE):c.1119-83G>A	noncoding	Benign
6	116436394	T	C	T116436394C	DSE	NM_013352.4(DSE):c.1926T>C:p.Asn642=	coding	Benign
6	116436802	G	T	G116436802T	DSE	NM_013352.4(DSE):c.2334G>T:p.Leu778=	coding	Benign/Likely_benign
6	116437494	C	T	C116437494T	DSE	NM_013352.4(DSE):c.*149C>T	noncoding	Benign
6	116437632	A	G	A116437632G	DSE	NM_013352.4(DSE):c.*287A>G	noncoding	Benign
6	116616179	C	T	C116616179T	RSPH4A	Single_allele	noncoding	Benign
6	116616231	G	T	G116616231T	RSPH4A	Single_allele	noncoding	Benign
6	116617140	C	T	C116617140T	RSPH4A	NM_001010892.3(RSPH4A):c.517C>T:p.Gln173Ter	coding	Pathogenic
6	116627787	G	C	G116627787C	RSPH4A	NM_001010892.3(RSPH4A):c.1080G>C:p.Leu360Phe	coding	Benign/Likely_benign
6	116627789	G	T	G116627789T	RSPH4A	NM_001010892.3(RSPH4A):c.1082G>T:p.Gly361Val	coding	Pathogenic
6	116628265	C	T	C116628265T	RSPH4A	NM_001010892.3(RSPH4A):c.1558C>T:p.Arg520Ter	coding	Pathogenic
6	116628338	G	A	G116628338A	RSPH4A	NM_001010892.3(RSPH4A):c.1631G>A:p.Trp544Ter	coding	Pathogenic
6	116629455	A	G	A116629455G	RSPH4A	NM_001010892.3(RSPH4A):c.1663-112A>G	noncoding	Benign
6	116629881	A	G	A116629881G	RSPH4A	NM_001010892.3(RSPH4A):c.1798+179A>G	noncoding	Benign
6	116631930	G	T	G116631930T	RSPH4A	NM_001010892.3(RSPH4A):c.1917-277G>T	noncoding	Benign
6	116877128	G	C	G116877128C	RFX6	Single_allele	noncoding	Benign
6	116877184	G	C	G116877184C	RFX6	Single_allele	noncoding	Benign
6	116877185	G	A	G116877185A	RFX6	Single_allele	noncoding	Benign
6	116877440	C	T	C116877440T	RFX6	NM_173560.4(RFX6):c.165C>T:p.Gly55=	coding	Benign
6	116877485	G	A	G116877485A	RFX6	NM_173560.4(RFX6):c.210G>A:p.Gly70=	coding	Benign
6	116878228	C	T	C116878228T	RFX6	NM_173560.4(RFX6):c.380+276C>T	noncoding	Benign
6	116880822	A	C	A116880822C	RFX6	NM_173560.4(RFX6):c.504+155A>C	noncoding	Benign
6	116882358	T	C	T116882358C	RFX6	NM_173560.4(RFX6):c.505-9T>C	noncoding	Benign
6	116882648	C	A	C116882648A	RFX6	NM_173560.4(RFX6):c.566+220C>A	noncoding	Benign
6	116893703	A	C	A116893703C	RFX6	NM_173560.4(RFX6):c.567-284A>C	noncoding	Benign
6	116893951	T	C	T116893951C	RFX6	NM_173560.4(RFX6):c.567-36T>C	noncoding	Benign
6	116894137	G	A	G116894137A	RFX6	NM_173560.4(RFX6):c.644+73G>A	noncoding	Benign
6	116894217	T	C	T116894217C	RFX6	NM_173560.4(RFX6):c.644+153T>C	noncoding	Benign
6	116894962	G	A	G116894962A	RFX6	NM_173560.4(RFX6):c.645-218G>A	noncoding	Benign
6	116895503	C	T	C116895503T	RFX6	NM_173560.4(RFX6):c.672+296C>T	noncoding	Benign
6	116916361	G	A	G116916361A	RFX6	NM_173560.4(RFX6):c.972+47G>A	noncoding	Benign
6	116916421	T	G	T116916421G	RFX6	NM_173560.4(RFX6):c.972+107T>G	noncoding	Benign
6	116917923	A	C	A116917923C	RFX6	NM_173560.4(RFX6):c.973-114A>C	noncoding	Benign
6	116917978	T	C	T116917978C	RFX6	NM_173560.4(RFX6):c.973-59T>C	noncoding	Benign
6	116918336	T	C	T116918336C	RFX6	NM_173560.4(RFX6):c.1022+250T>C	noncoding	Benign
6	116919430	G	A	G116919430A	RFX6	NM_173560.4(RFX6):c.1182+134G>A	noncoding	Benign
6	116920041	T	A	T116920041A	RFX6	NM_173560.4(RFX6):c.1183-269T>A	noncoding	Benign
6	116920587	A	T	A116920587T	RFX6	NM_173560.4(RFX6):c.1327+133A>T	noncoding	Benign
6	116922097	T	C	T116922097C	RFX6	NM_173560.4(RFX6):c.1383T>C:p.Thr461=	coding	Benign
6	116923211	T	C	T116923211C	RFX6	NM_173560.4(RFX6):c.1542T>C:p.Asn514=	coding	Benign
6	116923513	T	C	T116923513C	RFX6	NM_173560.4(RFX6):c.1555+289T>C	noncoding	Benign
6	116925266	A	C	A116925266C	RFX6	NM_173560.4(RFX6):c.1679-187A>C	noncoding	Benign
6	116925556	C	T	C116925556T	RFX6	NM_173560.4(RFX6):c.1782C>T:p.His594=	coding	Benign
6	116925936	A	G	A116925936G	RFX6	NM_173560.4(RFX6):c.1885+277A>G	noncoding	Benign
6	116926744	A	C	A116926744C	RFX6	NM_173560.4(RFX6):c.1886-283A>C	noncoding	Benign
6	116927055	T	C	T116927055C	RFX6	NM_173560.4(RFX6):c.1914T>C:p.Gly638=	coding	Benign
6	116927238	C	G	C116927238G	RFX6	NM_173560.4(RFX6):c.2097C>G:p.Thr699=	coding	Benign
6	116927547	T	C	T116927547C	RFX6	NM_173560.4(RFX6):c.2398+8T>C	noncoding	Benign
6	116927556	G	T	G116927556T	RFX6	NM_173560.4(RFX6):c.2398+17G>T	noncoding	Benign/Likely_benign
6	116927583	A	G	A116927583G	RFX6	NM_173560.4(RFX6):c.2398+44A>G	noncoding	Benign
6	116928462	T	C	T116928462C	RFX6	NM_173560.4(RFX6):c.2399-297T>C	noncoding	Benign
6	116928684	A	G	A116928684G	RFX6	NM_173560.4(RFX6):c.2399-75A>G	noncoding	Benign
6	116928759	G	C	G116928759C	RFX6	NM_173560.4(RFX6):c.2399G>C:p.Gly800Ala	coding	Benign/Likely_benign
6	116929019	C	T	C116929019T	RFX6	NM_173560.4(RFX6):c.2611+48C>T	noncoding	Benign
6	116929139	G	A	G116929139A	RFX6	NM_173560.4(RFX6):c.2611+168G>A	noncoding	Benign
6	116929223	G	A	G116929223A	RFX6	NM_173560.4(RFX6):c.2611+252G>A	noncoding	Benign
6	116929224	G	A	G116929224A	RFX6	NM_173560.4(RFX6):c.2611+253G>A	noncoding	Benign
6	116931034	C	T	C116931034T	RFX6	NM_173560.4(RFX6):c.2612-297C>T	noncoding	Benign
6	116931084	C	T	C116931084T	RFX6	NM_173560.4(RFX6):c.2612-247C>T	noncoding	Benign
6	116931178	A	G	A116931178G	RFX6	NM_173560.4(RFX6):c.2612-153A>G	noncoding	Benign
6	116931509	C	A	C116931509A	RFX6	NM_173560.4(RFX6):c.*3C>A	noncoding	Benign
6	116931596	T	G	T116931596G	RFX6	NM_173560.4(RFX6):c.*90T>G	noncoding	Benign
6	117675468	T	C	T117675468C	NUS1	Single_allele	noncoding	Benign
6	117675655	T	C	T117675655C	NUS1	NM_138459.5(NUS1):c.-16T>C	noncoding	Benign
6	117675685	C	A	C117675685A	NUS1	NM_138459.5(NUS1):c.15C>A:p.Tyr5Ter	coding	Pathogenic
6	117675769	G	A	G117675769A	NUS1	NM_138459.5(NUS1):c.99G>A:p.Trp33Ter	coding	Pathogenic
6	117676293	C	T	C117676293T	NUS1	NM_138459.5(NUS1):c.415+208C>T	noncoding	Benign
6	117692708	A	C	A117692708C	NUS1	NM_138459.5(NUS1):c.416-334A>C	noncoding	Benign
6	117692831	C	T	C117692831T	NUS1	NM_138459.5(NUS1):c.416-211C>T	noncoding	Benign
6	117693177	A	C	A117693177C	NUS1	NM_138459.5(NUS1):c.541+10A>C	noncoding	Benign/Likely_benign
6	117693826	A	G	A117693826G	NUS1	NM_138459.5(NUS1):c.542-205A>G	noncoding	Benign
6	117703632	T	G	T117703632G	NUS1	NM_138459.5(NUS1):c.719T>G:p.Leu240Ter	coding	Pathogenic
6	117706982	A	G	A117706982G	NUS1	NM_138459.5(NUS1):c.849A>G:p.Gln283=	coding	Benign
6	118548340	G	A	G118548340A	PLN	NM_002667.5(PLN):c.-150G>A	coding	Benign/Likely_benign
6	118558619	G	T	G118558619T	PLN	NM_002667.5(PLN):c.-97-206G>T	noncoding	Benign
6	118558656	C	G	C118558656G	PLN	NM_002667.5(PLN):c.-97-169C>G	noncoding	Benign
6	118558658	C	G	C118558658G	PLN	NM_002667.5(PLN):c.-97-167C>G	noncoding	Benign
6	118558662	G	C	G118558662C	PLN	NM_002667.5(PLN):c.-97-163G>C	noncoding	Benign
6	118558664	G	C	G118558664C	PLN	NM_002667.5(PLN):c.-97-161G>C	noncoding	Benign
6	118558666	G	C	G118558666C	PLN	NM_002667.5(PLN):c.-97-159G>C	noncoding	Benign
6	118565798	G	T	G118565798T	CEP85L	NM_001042475.3(CEP85L):c.751C>A:p.Pro251Thr	coding	Benign
6	118566140	T	C	T118566140C	CEP85L	NM_001042475.3(CEP85L):c.409A>G:p.Ser137Gly	coding	Benign
6	118632451	A	T	A118632451T	CEP85L	NM_001042475.3(CEP85L):c.232+2T>A	noncoding	Pathogenic
6	118632452	C	A	C118632452A	CEP85L	NM_001042475.3(CEP85L):c.232+1G>T	noncoding	Pathogenic
6	118632512	C	T	C118632512T	CEP85L	NM_001042475.3(CEP85L):c.173G>A:p.Ser58Asn	coding	Pathogenic
6	118651267	C	A	C118651267A	CEP85L	NM_001042475.3(CEP85L):c.3G>T:p.Met1Ile	coding	Pathogenic
6	118651278	A	G	A118651278G	CEP85L	NM_001042475.3(CEP85L):c.-9T>C	coding	Benign
6	118815563	G	A	G118815563A	MCM9	NM_017696.3(MCM9):c.2693C>T:p.Ser898Phe	coding	Benign
6	118827986	C	G	C118827986G	MCM9	NM_017696.3(MCM9):c.1673G>C:p.Cys558Ser	coding	Benign
6	118917739	C	T	C118917739T	MCM9	NM_017696.3(MCM9):c.726G>A:p.Gly242=	coding	Benign
6	121080850	T	G	T121080850G	TBC1D32	NM_152730.6(TBC1D32):c.3695A>C:p.Glu1232Ala	coding	Benign
6	121106137	T	C	T121106137C	TBC1D32	NM_152730.6(TBC1D32):c.3351A>G:p.Glu1117=	coding	Benign
6	121115152	G	A	G121115152A	TBC1D32	NM_152730.6(TBC1D32):c.3053+20C>T	noncoding	Benign
6	121131751	G	A	G121131751A	TBC1D32	NM_152730.6(TBC1D32):c.2775C>T:p.Asp925=	coding	Benign
6	121241449	A	C	A121241449C	TBC1D32	NM_152730.6(TBC1D32):c.2245+16T>G	noncoding	Benign
6	121241571	A	T	A121241571T	TBC1D32	NM_152730.6(TBC1D32):c.2158-19T>A	noncoding	Benign
6	121256224	T	C	T121256224C	TBC1D32	NM_152730.6(TBC1D32):c.1795A>G:p.Ile599Val	coding	Benign
6	121256299	C	T	C121256299T	TBC1D32	NM_152730.6(TBC1D32):c.1734-14G>A	noncoding	Benign
6	121279101	G	A	G121279101A	TBC1D32	NM_152730.6(TBC1D32):c.1733+20C>T	noncoding	Benign
6	121281639	T	A	T121281639A	TBC1D32	NM_152730.6(TBC1D32):c.1513A>T:p.Ser505Cys	coding	Benign
6	121281649	C	T	C121281649T	TBC1D32	NM_152730.6(TBC1D32):c.1503G>A:p.Leu501=	coding	Benign
6	121294680	T	C	T121294680C	TBC1D32	NM_152730.6(TBC1D32):c.1141-20A>G	noncoding	Benign
6	121299462	G	T	G121299462T	TBC1D32	NM_152730.6(TBC1D32):c.1124C>A:p.Thr375Lys	coding	Benign
6	121304799	A	G	A121304799G	TBC1D32	NM_152730.6(TBC1D32):c.725T>C:p.Leu242Ser	coding	Benign
6	121308021	G	A	G121308021A	TBC1D32	NM_152730.6(TBC1D32):c.645C>T:p.Cys215=	coding	Benign
6	121310862	T	A	T121310862A	TBC1D32	NM_152730.6(TBC1D32):c.496-15A>T	noncoding	Benign
6	121317520	G	A	G121317520A	TBC1D32	NM_152730.6(TBC1D32):c.470C>T:p.Ser157Phe	coding	Benign
6	121317536	G	A	G121317536A	TBC1D32	NM_152730.6(TBC1D32):c.454C>T:p.Arg152Cys	coding	Benign
6	121321644	T	C	T121321644C	TBC1D32	NM_152730.6(TBC1D32):c.306A>G:p.Gln102=	coding	Benign
6	121321705	C	T	C121321705T	TBC1D32	NM_152730.6(TBC1D32):c.245G>A:p.Arg82Gln	coding	Benign
6	121321770	C	T	C121321770T	TBC1D32	NM_152730.6(TBC1D32):c.180G>A:p.Arg60=	coding	Benign
6	121435882	C	T	C121435882T	GJA1	NM_000165.5(GJA1):c.-17+50C>T	noncoding	Benign
6	121435925	T	G	T121435925G	GJA1	NM_000165.5(GJA1):c.-17+93T>G	noncoding	Benign
6	121446940	T	G	T121446940G	GJA1	NM_000165.5(GJA1):c.93T>G:p.Ile31Met	coding	Pathogenic
6	121446989	G	A	G121446989A	GJA1	NM_000165.5(GJA1):c.142G>A:p.Glu48Lys	coding	Pathogenic/Likely_pathogenic
6	121447156	A	G	A121447156G	GJA1	NM_000165.5(GJA1):c.309A>G:p.Glu103=	coding	Benign
6	123218381	G	A	G123218381A	TRDN	NM_006073.4(TRDN):c.*220C>T	noncoding	Benign
6	123218464	C	T	C123218464T	TRDN	NM_006073.4(TRDN):c.*137G>A	noncoding	Benign
6	123218539	C	T	C123218539T	TRDN	NM_006073.4(TRDN):c.*62G>A	noncoding	Benign
6	123218540	T	C	T123218540C	TRDN	NM_006073.4(TRDN):c.*61A>G	noncoding	Benign
6	123221471	C	T	C123221471T	TRDN	NM_006073.4(TRDN):c.2050+16G>A	noncoding	Benign
6	123224227	C	T	C123224227T	TRDN	NM_006073.4(TRDN):c.1976-96G>A	noncoding	Benign
6	123224356	G	C	G123224356C	TRDN	NM_006073.4(TRDN):c.1976-225C>G	noncoding	Benign
6	123255745	A	G	A123255745G	TRDN	NM_006073.4(TRDN):c.1906+122T>C	noncoding	Benign
6	123256121	G	A	G123256121A	TRDN	NM_006073.4(TRDN):c.1871-219C>T	noncoding	Benign
6	123259530	C	T	C123259530T	TRDN	NM_006073.4(TRDN):c.1870+94G>A	noncoding	Benign
6	123260644	G	A	G123260644A	TRDN	NM_006073.4(TRDN):c.1805-6C>T	noncoding	Benign/Likely_benign
6	123265155	C	A	C123265155A	TRDN	NM_006073.4(TRDN):c.1804+163G>T	noncoding	Benign
6	123269890	A	G	A123269890G	TRDN	NM_006073.4(TRDN):c.1721-24T>C	noncoding	Benign
6	123269993	T	A	T123269993A	TRDN	NM_006073.4(TRDN):c.1721-127A>T	noncoding	Benign
6	123271137	A	G	A123271137G	TRDN	NM_006073.4(TRDN):c.1720+2T>C	noncoding	Pathogenic
6	123273399	C	T	C123273399T	TRDN	NM_006073.4(TRDN):c.1598-36G>A	noncoding	Benign
6	123274724	A	C	A123274724C	TRDN	NM_006073.4(TRDN):c.1568-54T>G	noncoding	Benign
6	123278299	A	G	A123278299G	TRDN	NM_006073.4(TRDN):c.1567+19T>C	noncoding	Benign/Likely_benign
6	123278921	C	A	C123278921A	TRDN	NM_006073.4(TRDN):c.1537+135G>T	noncoding	Benign
6	123337713	G	A	G123337713A	TRDN	NM_006073.4(TRDN):c.1370-44C>T	noncoding	Benign
6	123366096	C	G	C123366096G	TRDN	NM_006073.4(TRDN):c.1321+39G>C	noncoding	Benign
6	123377517	G	A	G123377517A	TRDN	NM_006073.4(TRDN):c.1246+199C>T	noncoding	Benign
6	123381497	T	G	T123381497G	TRDN	NM_006073.4(TRDN):c.1166-107A>C	noncoding	Benign
6	123382023	C	T	C123382023T	TRDN	NM_006073.4(TRDN):c.1165+95G>A	noncoding	Benign
6	123388688	T	C	T123388688C	TRDN	NM_006073.4(TRDN):c.1106-137A>G	noncoding	Benign
6	123393511	G	T	G123393511T	TRDN	NM_006073.4(TRDN):c.1105+113C>A	noncoding	Benign
6	123393512	C	T	C123393512T	TRDN	NM_006073.4(TRDN):c.1105+112G>A	noncoding	Benign
6	123438325	C	T	C123438325T	TRDN	NM_006073.4(TRDN):c.992-203G>A	noncoding	Benign
6	123512302	C	A	C123512302A	TRDN	NM_006073.4(TRDN):c.610+1G>T	noncoding	Pathogenic
6	123516150	C	A	C123516150A	TRDN	NM_006073.4(TRDN):c.541G>T:p.Glu181Ter	coding	Pathogenic/Likely_pathogenic
6	123516183	C	A	C123516183A	TRDN	NM_006073.4(TRDN):c.508G>T:p.Gly170Ter	coding	Pathogenic
6	123548478	C	T	C123548478T	TRDN	NM_006073.4(TRDN):c.367G>A:p.Asp123Asn	coding	Benign/Likely_benign
6	123548540	C	T	C123548540T	TRDN	NM_006073.4(TRDN):c.305G>A:p.Trp102Ter	coding	Pathogenic
6	123570899	A	G	A123570899G	TRDN	NM_006073.4(TRDN):c.232+24T>C	noncoding	Benign
6	123636725	T	C	T123636725C	TRDN	NM_006073.4(TRDN):c.22+29A>G	noncoding	Pathogenic
6	123636774	A	G	A123636774G	TRDN	NM_006073.4(TRDN):c.2T>C:p.Met1Thr	coding	Pathogenic
6	123636910	T	C	T123636910C	TRDN	NM_006073.4(TRDN):c.-135A>G	noncoding	Benign
6	123637427	A	G	A123637427G	TRDN	Single_allele	noncoding	Benign
6	125751994	T	C	T125751994C	HEY2	NM_012259.3(HEY2):c.163-13T>C	noncoding	Benign
6	127476034	G	A	G127476034A	SOGA3	NM_001012279.3(SOGA3):c.1992C>T:p.Ala664=	coding	Benign
6	128883530	G	A	G128883530A	LAMA2	NM_000426.4(LAMA2):c.112+173G>A	noncoding	Benign
6	128883590	T	A	T128883590A	LAMA2	NM_000426.4(LAMA2):c.112+233T>A	noncoding	Benign
6	128916728	C	T	C128916728T	LAMA2	NM_000426.4(LAMA2):c.112+33371C>T	noncoding	Benign
6	129049830	A	G	A129049830G	LAMA2	NM_000426.4(LAMA2):c.113-88A>G	noncoding	Benign
6	129050055	C	T	C129050055T	LAMA2	NM_000426.4(LAMA2):c.250C>T:p.Arg84Ter	coding	Pathogenic
6	129098158	G	A	G129098158A	LAMA2	NM_000426.4(LAMA2):c.397-15G>A	noncoding	Benign/Likely_benign
6	129098190	T	G	T129098190G	LAMA2	NM_000426.4(LAMA2):c.414T>G:p.Tyr138Ter	coding	Pathogenic
6	129098275	C	T	C129098275T	LAMA2	NM_000426.4(LAMA2):c.499C>T:p.Gln167Ter	coding	Pathogenic
6	129098280	T	A	T129098280A	LAMA2	NM_000426.4(LAMA2):c.504T>A:p.Tyr168Ter	coding	Pathogenic/Likely_pathogenic
6	129098417	T	A	T129098417A	LAMA2	NM_000426.4(LAMA2):c.639+2T>A	noncoding	Pathogenic
6	129143900	G	A	G129143900A	LAMA2	NM_000426.4(LAMA2):c.640-1G>A	noncoding	Pathogenic/Likely_pathogenic
6	129143927	A	C	A129143927C	LAMA2	NM_000426.4(LAMA2):c.666A>C:p.Arg222Ser	coding	Pathogenic
6	129144285	C	T	C129144285T	LAMA2	NM_000426.4(LAMA2):c.819+205C>T	noncoding	Benign
6	129148978	G	A	G129148978A	LAMA2	NM_000426.4(LAMA2):c.910-1G>A	noncoding	Pathogenic
6	129148978	G	T	G129148978T	LAMA2	NM_000426.4(LAMA2):c.910-1G>T	noncoding	Pathogenic
6	129149011	T	A	T129149011A	LAMA2	NM_000426.4(LAMA2):c.942T>A:p.Cys314Ter	coding	Pathogenic
6	129149060	A	T	A129149060T	LAMA2	NM_000426.4(LAMA2):c.991A>T:p.Arg331Ter	coding	Pathogenic
6	129154654	T	G	T129154654G	LAMA2	NM_000426.4(LAMA2):c.1177T>G:p.Cys393Gly	coding	Pathogenic
6	129154760	T	G	T129154760G	LAMA2	NM_000426.4(LAMA2):c.1206+77T>G	noncoding	Benign
6	129154790	C	G	C129154790G	LAMA2	NM_000426.4(LAMA2):c.1206+107C>G	noncoding	Benign
6	129165676	G	T	G129165676T	LAMA2	NM_000426.4(LAMA2):c.1306+1G>T	coding	Pathogenic
6	129177904	C	T	C129177904T	LAMA2	NM_000426.4(LAMA2):c.1467+38C>T	noncoding	Benign/Likely_benign
6	129190083	G	A	G129190083A	LAMA2	NM_000426.4(LAMA2):c.1468-122G>A	noncoding	Benign
6	129190186	T	C	T129190186C	LAMA2	NM_000426.4(LAMA2):c.1468-19T>C	noncoding	Benign/Likely_benign
6	129190556	G	A	G129190556A	LAMA2	NM_000426.4(LAMA2):c.1608+211G>A	noncoding	Benign
6	129250127	G	T	G129250127T	LAMA2	NM_000426.4(LAMA2):c.1798G>T:p.Gly600Ter	coding	Pathogenic
6	129250153	T	G	T129250153G	LAMA2	NM_000426.4(LAMA2):c.1824T>G:p.Tyr608Ter	coding	Pathogenic
6	129250172	G	T	G129250172T	LAMA2	NM_000426.4(LAMA2):c.1843G>T:p.Glu615Ter	coding	Pathogenic
6	129250181	G	T	G129250181T	LAMA2	NM_000426.4(LAMA2):c.1852G>T:p.Glu618Ter	coding	Pathogenic
6	129252241	T	A	T129252241A	LAMA2	NM_000426.4(LAMA2):c.2042T>A:p.Leu681Ter	coding	Pathogenic
6	129267114	G	A	G129267114A	LAMA2	NM_000426.4(LAMA2):c.2217G>A:p.Trp739Ter	coding	Pathogenic
6	129270423	T	C	T129270423C	LAMA2	NM_000426.4(LAMA2):c.2323-201T>C	noncoding	Benign
6	129270605	A	T	A129270605T	LAMA2	NM_000426.4(LAMA2):c.2323-19A>T	noncoding	Benign/Likely_benign
6	129280043	G	T	G129280043T	LAMA2	NM_000426.4(LAMA2):c.2451-18G>T	noncoding	Benign
6	129280110	G	T	G129280110T	LAMA2	NM_000426.4(LAMA2):c.2500G>T:p.Gly834Ter	coding	Pathogenic
6	129283911	A	G	A129283911G	LAMA2	NM_000426.4(LAMA2):c.2537+3764A>G	noncoding	Benign
6	129287850	T	A	T129287850A	LAMA2	NM_000426.4(LAMA2):c.2541T>A:p.Cys847Ter	coding	Pathogenic
6	129287904	C	A	C129287904A	LAMA2	NM_000426.4(LAMA2):c.2595C>A:p.Cys865Ter	coding	Pathogenic
6	129287967	T	A	T129287967A	LAMA2	NM_000426.4(LAMA2):c.2658T>A:p.Cys886Ter	coding	Pathogenic/Likely_pathogenic
6	129297671	T	A	T129297671A	LAMA2	NM_000426.4(LAMA2):c.2857-14T>A	noncoding	Benign/Likely_benign
6	129300729	G	A	G129300729A	LAMA2	NM_000426.4(LAMA2):c.3038-7G>A	noncoding	Pathogenic
6	129312872	C	A	C129312872A	LAMA2	NM_000426.4(LAMA2):c.3186C>A:p.Cys1062Ter	coding	Pathogenic
6	129312918	C	T	C129312918T	LAMA2	NM_000426.4(LAMA2):c.3232C>T:p.Gln1078Ter	coding	Pathogenic
6	129312986	C	A	C129312986A	LAMA2	NM_000426.4(LAMA2):c.3300C>A:p.Tyr1100Ter	coding	Pathogenic
6	129314394	G	C	G129314394C	LAMA2	NM_000426.4(LAMA2):c.3412-261G>C	noncoding	Benign
6	129315585	A	G	A129315585G	LAMA2	NM_000426.4(LAMA2):c.3665A>G:p.Asp1222Gly	coding	Benign/Likely_benign
6	129315760	A	T	A129315760T	LAMA2	NM_000426.4(LAMA2):c.3736-2A>T	noncoding	Pathogenic/Likely_pathogenic
6	129315843	C	T	C129315843T	LAMA2	NM_000426.4(LAMA2):c.3817C>T:p.Gln1273Ter	coding	Pathogenic
6	129316045	G	A	G129316045A	LAMA2	NM_000426.4(LAMA2):c.3932G>A:p.Trp1311Ter	coding	Pathogenic
6	129316172	G	A	G129316172A	LAMA2	NM_000426.4(LAMA2):c.4058+1G>A	coding	Pathogenic
6	129328311	C	T	C129328311T	LAMA2	NM_000426.4(LAMA2):c.4210C>T:p.Gln1404Ter	coding	Pathogenic
6	129342327	C	T	C129342327T	LAMA2	NM_000426.4(LAMA2):c.4312-16C>T	noncoding	Benign
6	129342341	A	G	A129342341G	LAMA2	NM_000426.4(LAMA2):c.4312-2A>G	noncoding	Pathogenic
6	129342349	C	T	C129342349T	LAMA2	NM_000426.4(LAMA2):c.4318C>T:p.Gln1440Ter	coding	Pathogenic
6	129342380	G	A	G129342380A	LAMA2	NM_000426.4(LAMA2):c.4349G>A:p.Arg1450Gln	coding	Benign/Likely_benign
6	129342399	T	A	T129342399A	LAMA2	NM_000426.4(LAMA2):c.4368T>A:p.Tyr1456Ter	coding	Pathogenic
6	129342485	A	G	A129342485G	LAMA2	NM_000426.4(LAMA2):c.4436+18A>G	noncoding	Benign
6	129349359	G	T	G129349359T	LAMA2	NM_000426.4(LAMA2):c.4498G>T:p.Gly1500Ter	coding	Pathogenic
6	129349384	G	A	G129349384A	LAMA2	NM_000426.4(LAMA2):c.4523G>A:p.Arg1508Lys	coding	Pathogenic/Likely_pathogenic
6	129349384	G	C	G129349384C	LAMA2	NM_000426.4(LAMA2):c.4523G>C:p.Arg1508Thr	coding	Pathogenic
6	129353328	G	A	G129353328A	LAMA2	NM_000426.4(LAMA2):c.4688G>A:p.Trp1563Ter	coding	Pathogenic
6	129353348	G	T	G129353348T	LAMA2	NM_000426.4(LAMA2):c.4708G>T:p.Glu1570Ter	coding	Pathogenic
6	129353612	G	T	G129353612T	LAMA2	NM_000426.4(LAMA2):c.4717+255G>T	noncoding	Benign
6	129366258	T	A	T129366258A	LAMA2	NM_000426.4(LAMA2):c.4757T>A:p.Leu1586Ter	coding	Pathogenic
6	129383106	G	A	G129383106A	LAMA2	NM_000426.4(LAMA2):c.4960-16G>A	noncoding	Benign/Likely_benign
6	129383200	G	T	G129383200T	LAMA2	NM_000426.4(LAMA2):c.5038G>T:p.Glu1680Ter	coding	Pathogenic/Likely_pathogenic
6	129383234	G	A	G129383234A	LAMA2	NM_000426.4(LAMA2):c.5071+1G>A	coding	Pathogenic
6	129392975	T	C	T129392975C	LAMA2	NM_000426.4(LAMA2):c.5235-70T>C	noncoding	Benign
6	129393076	A	T	A129393076T	LAMA2	NM_000426.4(LAMA2):c.5266A>T:p.Lys1756Ter	coding	Pathogenic
6	129402363	G	T	G129402363T	LAMA2	NM_000426.4(LAMA2):c.5602G>T:p.Glu1868Ter	coding	Pathogenic
6	129402751	A	G	A129402751G	LAMA2	NM_000426.4(LAMA2):c.5726+264A>G	noncoding	Benign
6	129403924	G	T	G129403924T	LAMA2	NM_000426.4(LAMA2):c.5830G>T:p.Glu1944Ter	coding	Pathogenic
6	129427732	A	G	A129427732G	LAMA2	NM_000426.4(LAMA2):c.5866-20A>G	noncoding	Benign
6	129440800	C	T	C129440800T	LAMA2	NM_000426.4(LAMA2):c.6086-16C>T	noncoding	Benign/Likely_benign
6	129445702	C	T	C129445702T	LAMA2	NM_000426.4(LAMA2):c.6310C>T:p.Gln2104Ter	coding	Pathogenic
6	129445822	G	T	G129445822T	LAMA2	NM_000426.4(LAMA2):c.6429+1G>T	coding	Pathogenic/Likely_pathogenic
6	129453024	C	T	C129453024T	LAMA2	NM_000426.4(LAMA2):c.6466C>T:p.Arg2156Ter	coding	Pathogenic
6	129453059	C	A	C129453059A	LAMA2	NM_000426.4(LAMA2):c.6501C>A:p.Tyr2167Ter	coding	Pathogenic
6	129453311	G	T	G129453311T	LAMA2	NM_000426.4(LAMA2):c.6573+180G>T	noncoding	Benign
6	129453905	T	A	T129453905A	LAMA2	NM_000426.4(LAMA2):c.6574-250T>A	noncoding	Benign
6	129453939	T	A	T129453939A	LAMA2	NM_000426.4(LAMA2):c.6574-216T>A	noncoding	Benign
6	129454247	G	A	G129454247A	LAMA2	NM_000426.4(LAMA2):c.6666G>A:p.Leu2222=	coding	Benign/Likely_benign
6	129459952	G	A	G129459952A	LAMA2	NM_000426.4(LAMA2):c.6868-248G>A	noncoding	Benign
6	129460047	C	A	C129460047A	LAMA2	NM_000426.4(LAMA2):c.6868-153C>A	noncoding	Benign
6	129464367	G	A	G129464367A	LAMA2	NM_000426.4(LAMA2):c.7070G>A:p.Trp2357Ter	coding	Pathogenic
6	129464368	G	A	G129464368A	LAMA2	NM_000426.4(LAMA2):c.7071G>A:p.Trp2357Ter	coding	Pathogenic
6	129478689	A	C	A129478689C	LAMA2	NM_000426.4(LAMA2):c.7452-4A>C	noncoding	Benign
6	129478759	C	A	C129478759A	LAMA2	NM_000426.4(LAMA2):c.7518C>A:p.Tyr2506Ter	coding	Pathogenic
6	129486623	G	A	G129486623A	LAMA2	NM_000426.4(LAMA2):c.7898+1G>A	coding	Pathogenic
6	129491929	A	T	A129491929T	LAMA2	NM_000426.4(LAMA2):c.7927A>T:p.Arg2643Ter	coding	Pathogenic
6	129491968	G	T	G129491968T	LAMA2	NM_000426.4(LAMA2):c.7966G>T:p.Glu2656Ter	coding	Pathogenic
6	129492093	C	T	C129492093T	LAMA2	NM_000426.4(LAMA2):c.8075+16C>T	noncoding	Benign/Likely_benign
6	129492097	A	G	A129492097G	LAMA2	NM_000426.4(LAMA2):c.8075+20A>G	noncoding	Benign
6	129492610	T	A	T129492610A	LAMA2	NM_000426.4(LAMA2):c.8244+127T>A	noncoding	Benign
6	129492655	A	T	A129492655T	LAMA2	NM_000426.4(LAMA2):c.8244+172A>T	noncoding	Benign
6	129502658	G	C	G129502658C	LAMA2	NM_000426.4(LAMA2):c.8245-1G>C	noncoding	Pathogenic
6	129502772	G	A	G129502772A	LAMA2	NM_000426.4(LAMA2):c.8357+1G>A	coding	Pathogenic
6	129503282	T	C	T129503282C	LAMA2	NM_000426.4(LAMA2):c.8547+2T>C	noncoding	Pathogenic
6	129505299	G	T	G129505299T	LAMA2	NM_000426.4(LAMA2):c.8647G>T:p.Gly2883Ter	coding	Pathogenic
6	129505334	C	G	C129505334G	LAMA2	NM_000426.4(LAMA2):c.8682C>G:p.Tyr2894Ter	coding	Pathogenic
6	129507555	C	T	C129507555T	LAMA2	NM_000426.4(LAMA2):c.8770C>T:p.Gln2924Ter	coding	Pathogenic/Likely_pathogenic
6	129512491	A	T	A129512491T	LAMA2	NM_000426.4(LAMA2):c.8986A>T:p.Lys2996Ter	coding	Pathogenic
6	130052957	C	A	C130052957A	L3MBTL3	NM_032438.4(L3MBTL3):c.548C>A:p.Thr183Asn	coding	Benign
6	131573284	T	C	T131573284C	ARG1	NM_000045.4(ARG1):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
6	131573285	G	A	G131573285A	ARG1	NM_000045.4(ARG1):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
6	131576729	G	T	G131576729T	ARG1	NM_000045.4(ARG1):c.124G>T:p.Glu42Ter	coding	Pathogenic
6	131576736	G	A	G131576736A	ARG1	NM_000045.4(ARG1):c.130+1G>A	coding	Pathogenic
6	131578846	C	T	C131578846T	ARG1	NM_000045.4(ARG1):c.131-265C>T	noncoding	Benign
6	131579004	G	A	G131579004A	ARG1	NM_000045.4(ARG1):c.131-107G>A	noncoding	Benign
6	131579005	C	T	C131579005T	ARG1	NM_000045.4(ARG1):c.131-106C>T	noncoding	Benign
6	131579286	G	A	G131579286A	ARG1	NM_000045.4(ARG1):c.305+1G>A	coding	Pathogenic
6	131579379	G	T	G131579379T	ARG1	NM_000045.4(ARG1):c.305+94G>T	noncoding	Benign
6	131581189	G	A	G131581189A	ARG1	NM_000045.4(ARG1):c.306-30G>A	noncoding	Benign
6	131581279	G	A	G131581279A	ARG1	NM_000045.4(ARG1):c.366G>A:p.Trp122Ter	coding	Pathogenic
6	131582647	G	A	G131582647A	ARG1	NM_000045.4(ARG1):c.492G>A:p.Trp164Ter	coding	Pathogenic
6	131583455	G	T	G131583455T	ARG1	NM_000045.4(ARG1):c.766G>T:p.Glu256Ter	coding	Pathogenic
6	131583579	C	T	C131583579T	ARG1	NM_000045.4(ARG1):c.802+88C>T	noncoding	Benign
6	131593051	G	C	G131593051C	MED23	NM_004830.4(MED23):c.3353C>G:p.Ser1118Ter	coding	Pathogenic/Likely_pathogenic
6	131603042	T	C	T131603042C	MED23	NM_004830.4(MED23):c.1919A>G:p.Gln640Arg	coding	Pathogenic
6	131620627	C	A	C131620627A	MED23	NM_004830.4(MED23):c.597+1G>T	noncoding	Pathogenic
6	131620686	G	T	G131620686T	MED23	NM_004830.4(MED23):c.539C>A:p.Ala180Asp	coding	Pathogenic
6	131620719	T	C	T131620719C	MED23	NM_004830.4(MED23):c.506A>G:p.Tyr169Cys	coding	Pathogenic
6	131623365	C	T	C131623365T	MED23	NM_004830.4(MED23):c.382G>A:p.Gly128Arg	coding	Pathogenic
6	131807700	C	T	C131807700T	ENPP1	Single_allele	noncoding	Benign
6	131808243	A	T	A131808243T	ENPP1	NM_006208.3(ENPP1):c.208A>T:p.Lys70Ter	coding	Pathogenic
6	131847638	C	T	C131847638T	ENPP1	NM_006208.3(ENPP1):c.241-138C>T	noncoding	Benign
6	131849644	C	T	C131849644T	ENPP1	NM_006208.3(ENPP1):c.314-346C>T	noncoding	Benign
6	131849926	G	A	G131849926A	ENPP1	NM_006208.3(ENPP1):c.314-64G>A	noncoding	Benign
6	131851047	T	C	T131851047C	ENPP1	NM_006208.3(ENPP1):c.431-95T>C	noncoding	Benign
6	131851222	A	T	A131851222T	ENPP1	NM_006208.3(ENPP1):c.511A>T:p.Lys171Ter	coding	Pathogenic
6	131851267	G	C	G131851267C	ENPP1	NM_006208.3(ENPP1):c.556G>C:p.Gly186Arg	coding	Pathogenic
6	131851464	T	C	T131851464C	ENPP1	NM_006208.3(ENPP1):c.556+197T>C	noncoding	Benign
6	131851498	G	A	G131851498A	ENPP1	NM_006208.3(ENPP1):c.556+231G>A	noncoding	Benign
6	131851503	C	T	C131851503T	ENPP1	NM_006208.3(ENPP1):c.556+236C>T	noncoding	Benign
6	131854906	T	G	T131854906G	ENPP1	NM_006208.3(ENPP1):c.618-20T>G	noncoding	Benign/Likely_benign
6	131855169	G	A	G131855169A	ENPP1	NM_006208.3(ENPP1):c.715+146G>A	noncoding	Benign
6	131858701	C	T	C131858701T	ENPP1	NM_006208.3(ENPP1):c.749C>T:p.Pro250Leu	coding	Pathogenic
6	131858888	T	C	T131858888C	ENPP1	NM_006208.3(ENPP1):c.795+141T>C	noncoding	Benign
6	131860168	A	T	A131860168T	ENPP1	NM_006208.3(ENPP1):c.796-219A>T	noncoding	Benign
6	131860507	G	A	G131860507A	ENPP1	NM_006208.3(ENPP1):c.915+1G>A	coding	Pathogenic
6	131860533	T	G	T131860533G	ENPP1	NM_006208.3(ENPP1):c.915+27T>G	noncoding	Benign
6	131861444	A	G	A131861444G	ENPP1	NM_006208.3(ENPP1):c.916-151A>G	noncoding	Benign
6	131861775	T	C	T131861775C	ENPP1	NM_006208.3(ENPP1):c.1025+71T>C	noncoding	Benign
6	131864508	C	A	C131864508A	ENPP1	NM_006208.3(ENPP1):c.1028C>A:p.Ser343Ter	coding	Pathogenic
6	131864606	C	T	C131864606T	ENPP1	NM_006208.3(ENPP1):c.1091+35C>T	noncoding	Benign
6	131864702	G	A	G131864702A	ENPP1	NM_006208.3(ENPP1):c.1091+131G>A	noncoding	Benign
6	131865160	C	G	C131865160G	ENPP1	NM_006208.3(ENPP1):c.1164+222C>G	noncoding	Benign
6	131865172	A	G	A131865172G	ENPP1	NM_006208.3(ENPP1):c.1164+234A>G	noncoding	Benign
6	131867808	T	C	T131867808C	ENPP1	NM_006208.3(ENPP1):c.1165-210T>C	noncoding	Benign
6	131868127	G	A	G131868127A	ENPP1	NM_006208.3(ENPP1):c.1273+1G>A	coding	Pathogenic
6	131868128	T	C	T131868128C	ENPP1	NM_006208.3(ENPP1):c.1273+2T>C	noncoding	Pathogenic
6	131869264	C	T	C131869264T	ENPP1	NM_006208.3(ENPP1):c.1274-94C>T	noncoding	Benign
6	131869450	C	T	C131869450T	ENPP1	NM_006208.3(ENPP1):c.1366C>T:p.Arg456Ter	coding	Pathogenic
6	131871854	A	T	A131871854T	ENPP1	NM_006208.3(ENPP1):c.1406-216A>T	noncoding	Benign
6	131872255	A	C	A131872255C	ENPP1	NM_006208.3(ENPP1):c.1437+154A>C	noncoding	Benign
6	131872813	A	G	A131872813G	ENPP1	NM_006208.3(ENPP1):c.1438-110A>G	noncoding	Benign
6	131873286	C	G	C131873286G	ENPP1	NM_006208.3(ENPP1):c.1565+236C>G	noncoding	Benign
6	131873340	G	A	G131873340A	ENPP1	NM_006208.3(ENPP1):c.1565+290G>A	noncoding	Benign
6	131875574	A	C	A131875574C	ENPP1	NM_006208.3(ENPP1):c.1636-202A>C	noncoding	Benign
6	131875718	G	T	G131875718T	ENPP1	NM_006208.3(ENPP1):c.1636-58G>T	noncoding	Benign
6	131877218	T	C	T131877218C	ENPP1	NM_006208.3(ENPP1):c.1893+57T>C	noncoding	Benign
6	131877288	T	A	T131877288A	ENPP1	NM_006208.3(ENPP1):c.1893+127T>A	noncoding	Benign
6	131877302	G	A	G131877302A	ENPP1	NM_006208.3(ENPP1):c.1893+141G>A	noncoding	Benign
6	131877371	C	T	C131877371T	ENPP1	NM_006208.3(ENPP1):c.1893+210C>T	noncoding	Benign
6	131877432	C	T	C131877432T	ENPP1	NM_006208.3(ENPP1):c.1893+271C>T	noncoding	Benign
6	131877433	G	A	G131877433A	ENPP1	NM_006208.3(ENPP1):c.1893+272G>A	noncoding	Benign
6	131878475	G	A	G131878475A	ENPP1	NM_006208.3(ENPP1):c.1894-67G>A	noncoding	Benign
6	131878839	C	T	C131878839T	ENPP1	NM_006208.3(ENPP1):c.1945+246C>T	noncoding	Benign
6	131878903	G	C	G131878903C	ENPP1	NM_006208.3(ENPP1):c.1945+310G>C	noncoding	Benign
6	131879555	C	A	C131879555A	ENPP1	NM_006208.3(ENPP1):c.1946-325C>A	noncoding	Benign
6	131879786	A	G	A131879786G	ENPP1	NM_006208.3(ENPP1):c.1946-94A>G	noncoding	Benign
6	131882292	A	G	A131882292G	ENPP1	NM_006208.3(ENPP1):c.2101-53A>G	noncoding	Benign
6	131882474	C	T	C131882474T	ENPP1	NM_006208.3(ENPP1):c.2230C>T:p.Gln744Ter	coding	Pathogenic
6	131883485	C	G	C131883485G	ENPP1	NM_006208.3(ENPP1):c.2231-209C>G	noncoding	Benign
6	131884963	C	T	C131884963T	ENPP1	NM_006208.3(ENPP1):c.2344C>T:p.Arg782Ter	coding	Pathogenic
6	131890050	T	C	T131890050C	ENPP1	NM_006208.3(ENPP1):c.2608-291T>C	noncoding	Benign
6	131890225	C	T	C131890225T	ENPP1	NM_006208.3(ENPP1):c.2608-116C>T	noncoding	Benign
6	131890278	A	G	A131890278G	ENPP1	NM_006208.3(ENPP1):c.2608-63A>G	noncoding	Benign
6	131890474	T	A	T131890474A	ENPP1	NM_006208.3(ENPP1):c.2741T>A:p.Leu914Ter	coding	Pathogenic
6	133274433	G	A	G133274433A	EYA4	NM_004100.5(EYA4):c.-65-283G>A	noncoding	Benign
6	133274546	C	A	C133274546A	EYA4	NM_004100.5(EYA4):c.-65-170C>A	noncoding	Benign
6	133275079	T	C	T133275079C	EYA4	NM_004100.5(EYA4):c.33+266T>C	noncoding	Benign
6	133275089	A	G	A133275089G	EYA4	NM_004100.5(EYA4):c.33+276A>G	noncoding	Benign
6	133382187	A	G	A133382187G	EYA4	NM_004100.5(EYA4):c.34-205A>G	noncoding	Benign
6	133382425	C	T	C133382425T	EYA4	NM_004100.5(EYA4):c.67C>T:p.Gln23Ter	coding	Pathogenic
6	133382560	T	C	T133382560C	EYA4	NM_004100.5(EYA4):c.83+119T>C	noncoding	Benign
6	133446394	G	C	G133446394C	EYA4	NM_004100.5(EYA4):c.84-236G>C	noncoding	Benign
6	133446628	A	G	A133446628G	EYA4	NM_004100.5(EYA4):c.84-2A>G	noncoding	Pathogenic
6	133447982	A	G	A133447982G	EYA4	NM_004100.5(EYA4):c.209-129A>G	noncoding	Benign
6	133456664	C	T	C133456664T	EYA4	NM_004100.5(EYA4):c.370+16C>T	noncoding	Benign/Likely_benign
6	133456701	C	G	C133456701G	EYA4	NM_004100.5(EYA4):c.370+53C>G	noncoding	Benign
6	133460815	C	T	C133460815T	EYA4	NM_004100.5(EYA4):c.371-299C>T	noncoding	Benign
6	133461050	T	C	T133461050C	EYA4	NM_004100.5(EYA4):c.371-64T>C	noncoding	Benign
6	133461237	T	A	T133461237A	EYA4	NM_004100.5(EYA4):c.437+57T>A	noncoding	Benign
6	133461268	T	C	T133461268C	EYA4	NM_004100.5(EYA4):c.437+88T>C	noncoding	Benign
6	133462005	T	G	T133462005G	EYA4	NM_004100.5(EYA4):c.438-330T>G	noncoding	Benign
6	133462117	A	G	A133462117G	EYA4	NM_004100.5(EYA4):c.438-218A>G	noncoding	Benign
6	133462479	T	C	T133462479C	EYA4	NM_004100.5(EYA4):c.580+2T>C	noncoding	Pathogenic
6	133462916	C	T	C133462916T	EYA4	NM_004100.5(EYA4):c.724+152C>T	noncoding	Benign
6	133462925	G	A	G133462925A	EYA4	NM_004100.5(EYA4):c.724+161G>A	noncoding	Benign
6	133464486	T	C	T133464486C	EYA4	NM_004100.5(EYA4):c.725-293T>C	noncoding	Benign
6	133464860	T	A	T133464860A	EYA4	NM_004100.5(EYA4):c.804+2T>A	noncoding	Pathogenic
6	133468593	C	T	C133468593T	EYA4	NM_004100.5(EYA4):c.832C>T:p.Gln278Ter	coding	Pathogenic
6	133468624	C	A	C133468624A	EYA4	NM_004100.5(EYA4):c.863C>A:p.Ser288Ter	coding	Pathogenic
6	133468628	G	A	G133468628A	EYA4	NM_004100.5(EYA4):c.867G>A:p.Thr289=	coding	Benign
6	133468634	A	T	A133468634T	EYA4	NM_004100.5(EYA4):c.873A>T:p.Gly291=	coding	Benign
6	133468725	C	T	C133468725T	EYA4	NM_004100.5(EYA4):c.964C>T:p.Gln322Ter	coding	Pathogenic
6	133481873	C	G	C133481873G	EYA4	NM_004100.5(EYA4):c.1107+274C>G	noncoding	Benign
6	133481873	C	T	C133481873T	EYA4	NM_004100.5(EYA4):c.1107+274C>T	noncoding	Benign
6	133482876	A	C	A133482876C	EYA4	NM_004100.5(EYA4):c.1108-156A>C	noncoding	Benign
6	133483078	C	A	C133483078A	EYA4	NM_004100.5(EYA4):c.1154C>A:p.Ser385Ter	coding	Pathogenic
6	133483101	C	T	C133483101T	EYA4	NM_004100.5(EYA4):c.1177C>T:p.Gln393Ter	coding	Pathogenic
6	133483354	A	T	A133483354T	EYA4	NM_004100.5(EYA4):c.1191+239A>T	noncoding	Benign
6	133483388	G	A	G133483388A	EYA4	NM_004100.5(EYA4):c.1191+273G>A	noncoding	Benign
6	133506010	T	C	T133506010C	EYA4	NM_004100.5(EYA4):c.1192-96T>C	noncoding	Benign
6	133506215	C	T	C133506215T	EYA4	NM_004100.5(EYA4):c.1281+20C>T	coding	Benign
6	133506216	A	G	A133506216G	EYA4	NM_004100.5(EYA4):c.1281+21A>G	coding	Benign
6	133506370	G	T	G133506370T	EYA4	NM_004100.5(EYA4):c.1281+175G>T	noncoding	Benign
6	133506457	A	G	A133506457G	EYA4	NM_004100.5(EYA4):c.1281+262A>G	noncoding	Benign
6	133512709	T	A	T133512709A	EYA4	NM_004100.5(EYA4):c.1282-12T>A	noncoding	Pathogenic
6	133513057	A	G	A133513057G	EYA4	NM_004100.5(EYA4):c.1501+19A>G	noncoding	Benign
6	133513353	G	A	G133513353A	EYA4	NM_004100.5(EYA4):c.1501+315G>A	noncoding	Benign
6	133515050	C	T	C133515050T	EYA4	NM_004100.5(EYA4):c.1502-271C>T	noncoding	Benign
6	133515053	T	C	T133515053C	EYA4	NM_004100.5(EYA4):c.1502-268T>C	noncoding	Benign
6	133515192	C	T	C133515192T	EYA4	NM_004100.5(EYA4):c.1502-129C>T	noncoding	Benign
6	133515726	T	A	T133515726A	EYA4	NM_004100.5(EYA4):c.1616+291T>A	noncoding	Benign
6	133522999	C	A	C133522999A	EYA4	NM_004100.5(EYA4):c.1617-57C>A	noncoding	Benign
6	133523043	C	G	C133523043G	EYA4	NM_004100.5(EYA4):c.1617-13C>G	noncoding	Benign
6	133523201	G	C	G133523201C	EYA4	NM_004100.5(EYA4):c.1738+24G>C	noncoding	Benign
6	133525403	T	G	T133525403G	EYA4	NM_004100.5(EYA4):c.1839+149T>G	noncoding	Benign
6	133528651	A	G	A133528651G	EYA4	NM_004100.5(EYA4):c.1840-74A>G	noncoding	Benign
6	133528821	G	A	G133528821A	EYA4	NM_004100.5(EYA4):c.*16G>A	noncoding	Benign
6	133888899	C	T	C133888899T	TCF21	NR_109982.1(TARID):n.108G>A	noncoding	Benign
6	133891457	A	G	A133891457G	TCF21	NM_003206.4(TCF21):c.451-256A>G	noncoding	Benign
6	135290213	C	T	C135290213T	AHI1	NM_001134831.2(AHI1):c.3588+210G>A	noncoding	Benign
6	135300341	G	A	G135300341A	AHI1	NM_001134831.2(AHI1):c.3485+159C>T	noncoding	Benign
6	135318845	A	G	A135318845G	AHI1	NM_001134831.2(AHI1):c.3329-229T>C	noncoding	Benign
6	135322868	T	C	T135322868C	AHI1	NM_001134831.2(AHI1):c.3328+294A>G	noncoding	Benign
6	135323290	G	C	G135323290C	AHI1	NM_001134831.2(AHI1):c.3200C>G:p.Ser1067Ter	coding	Pathogenic
6	135411056	G	A	G135411056A	AHI1	NM_001134831.2(AHI1):c.2961+292C>T	noncoding	Benign
6	135427062	A	G	A135427062G	AHI1	NM_001134831.2(AHI1):c.2764+105T>C	noncoding	Benign
6	135427244	T	C	T135427244C	AHI1	NM_001134831.2(AHI1):c.2687A>G:p.His896Arg	coding	Pathogenic
6	135428627	A	T	A135428627T	AHI1	NM_001134831.2(AHI1):c.2623+2T>A	noncoding	Pathogenic
6	135428747	C	T	C135428747T	AHI1	NM_001134831.2(AHI1):c.2505G>A:p.Arg835=	coding	Benign/Likely_benign
6	135428882	A	T	A135428882T	AHI1	NM_001134831.2(AHI1):c.2493-123T>A	noncoding	Benign
6	135429002	T	C	T135429002C	AHI1	NM_001134831.2(AHI1):c.2493-243A>G	noncoding	Benign
6	135429868	T	C	T135429868C	AHI1	NM_001134831.2(AHI1):c.2492+14A>G	noncoding	Benign
6	135430186	C	T	C135430186T	AHI1	NM_001134831.2(AHI1):c.2374-186G>A	noncoding	Benign
6	135431470	T	C	T135431470C	AHI1	NM_001134831.2(AHI1):c.2267-156A>G	noncoding	Benign
6	135432792	C	T	C135432792T	AHI1	NM_001134831.2(AHI1):c.2266+235G>A	noncoding	Benign
6	135433047	G	C	G135433047C	AHI1	NM_001134831.2(AHI1):c.2246C>G:p.Ser749Ter	coding	Pathogenic
6	135433333	C	T	C135433333T	AHI1	NM_001134831.2(AHI1):c.2037-77G>A	noncoding	Benign
6	135438279	C	T	C135438279T	AHI1	NM_001134831.2(AHI1):c.2036+96G>A	noncoding	Benign
6	135438414	T	A	T135438414A	AHI1	NM_001134831.2(AHI1):c.1997A>T:p.Asp666Val	coding	Pathogenic/Likely_pathogenic
6	135438430	A	G	A135438430G	AHI1	NM_001134831.2(AHI1):c.1981T>C:p.Ser661Pro	coding	Pathogenic
6	135442447	T	C	T135442447C	AHI1	NM_001134831.2(AHI1):c.1912+135A>G	noncoding	Benign
6	135442683	G	C	G135442683C	AHI1	NM_001134831.2(AHI1):c.1811C>G:p.Ser604Ter	coding	Pathogenic/Likely_pathogenic
6	135448333	G	T	G135448333T	AHI1	NM_001134831.2(AHI1):c.1583C>A:p.Ser528Ter	coding	Pathogenic
6	135448551	A	G	A135448551G	AHI1	NM_001134831.2(AHI1):c.1441-76T>C	noncoding	Benign
6	135455808	T	C	T135455808C	AHI1	NM_001134831.2(AHI1):c.1270A>G:p.Ile424Val	coding	Benign
6	135455912	G	C	G135455912C	AHI1	NM_001134831.2(AHI1):c.1166C>G:p.Ser389Ter	coding	Pathogenic
6	135457601	G	T	G135457601T	AHI1	NM_001134831.2(AHI1):c.1044C>A:p.Tyr348Ter	coding	Pathogenic
6	135465599	T	C	T135465599C	AHI1	NM_001134831.2(AHI1):c.749+215A>G	noncoding	Benign
6	135466085	T	A	T135466085A	AHI1	NM_001134831.2(AHI1):c.478A>T:p.Lys160Ter	coding	Pathogenic
6	135466250	G	A	G135466250A	AHI1	NM_001134831.2(AHI1):c.313C>T:p.Gln105Ter	coding	Pathogenic
6	135490676	G	A	G135490676A	AHI1	NM_001134831.2(AHI1):c.82C>T:p.Arg28Cys	coding	Benign/Likely_benign
6	135496012	T	C	T135496012C	AHI1	NM_001134831.2(AHI1):c.-139-114A>G	noncoding	Benign
6	135496997	C	T	C135496997T	AHI1	NM_001134831.2(AHI1):c.-140+191G>A	noncoding	Benign
6	135497542	G	A	G135497542A	AHI1	NM_001134831.2(AHI1):c.-202+41C>T	noncoding	Benign
6	136372607	A	T	A136372607T	MAP7	NM_003980.6(MAP7):c.770T>A:p.Ile257Asn	coding	Benign
6	136822473	A	T	A136822473T	PEX7	Single_allele	noncoding	Benign
6	136822777	C	T	C136822777T	PEX7	NM_000288.4(PEX7):c.112C>T:p.Gln38Ter	coding	Pathogenic
6	136822797	T	G	T136822797G	PEX7	NM_000288.4(PEX7):c.130+2T>G	noncoding	Pathogenic
6	136822889	T	C	T136822889C	PEX7	NM_000288.4(PEX7):c.130+94T>C	noncoding	Benign
6	136823080	G	C	G136823080C	PEX7	NM_000288.4(PEX7):c.130+285G>C	noncoding	Benign
6	136826407	C	T	C136826407T	PEX7	NM_000288.4(PEX7):c.277C>T:p.Gln93Ter	coding	Pathogenic/Likely_pathogenic
6	136826471	T	C	T136826471C	PEX7	NM_000288.4(PEX7):c.339+2T>C	noncoding	Pathogenic/Likely_pathogenic
6	136826635	G	A	G136826635A	PEX7	NM_000288.4(PEX7):c.339+166G>A	noncoding	Benign
6	136845333	G	A	G136845333A	PEX7	NM_000288.4(PEX7):c.340-282G>A	noncoding	Benign
6	136845512	A	G	A136845512G	PEX7	NM_000288.4(PEX7):c.340-103A>G	noncoding	Benign/Likely_benign
6	136845651	C	T	C136845651T	PEX7	NM_000288.4(PEX7):c.376C>T:p.Gln126Ter	coding	Pathogenic/Likely_pathogenic
6	136845652	A	C	A136845652C	PEX7	NM_000288.4(PEX7):c.377A>C:p.Gln126Pro	coding	Benign/Likely_benign
6	136845839	G	A	G136845839A	PEX7	NM_000288.4(PEX7):c.417+147G>A	noncoding	Benign
6	136846143	G	A	G136846143A	PEX7	NM_000288.4(PEX7):c.488G>A:p.Trp163Ter	coding	Pathogenic
6	136846195	T	C	T136846195C	PEX7	NM_000288.4(PEX7):c.526+14T>C	noncoding	Benign/Likely_benign
6	136866438	G	A	G136866438A	PEX7	NM_000288.4(PEX7):c.527-189G>A	noncoding	Benign
6	136869738	C	T	C136869738T	PEX7	NM_000288.4(PEX7):c.634-152C>T	noncoding	Benign
6	136870262	A	T	A136870262T	PEX7	NM_000288.4(PEX7):c.747+259A>T	noncoding	Benign
6	136872182	C	T	C136872182T	PEX7	NM_000288.4(PEX7):c.748-16C>T	noncoding	Benign/Likely_benign
6	136872416	C	T	C136872416T	PEX7	NM_000288.4(PEX7):c.803+163C>T	noncoding	Benign
6	136914034	G	A	G136914034A	PEX7	Single_allele	noncoding	Benign
6	136924186	C	G	C136924186G	SLC35D3	NM_001008783.3(SLC35D3):c.741C>G:p.Thr247=	coding	Benign
6	137206135	C	A	C137206135A	IFNGR1	NM_000416.3(IFNGR1):c.373+1G>T	noncoding	Pathogenic
6	137871360	C	T	C137871360T	TNFAIP3	NM_001270508.2(TNFAIP3):c.133C>T:p.Arg45Ter	coding	Pathogenic
6	137871509	G	A	G137871509A	TNFAIP3	NM_001270508.2(TNFAIP3):c.282G>A:p.Ala94=	coding	Benign
6	137871533	T	C	T137871533C	TNFAIP3	NM_001270508.2(TNFAIP3):c.295+11T>C	noncoding	Benign
6	137871608	G	A	G137871608A	TNFAIP3	NM_001270508.2(TNFAIP3):c.295+86G>A	noncoding	Benign
6	137871624	A	G	A137871624G	TNFAIP3	NM_001270508.2(TNFAIP3):c.295+102A>G	noncoding	Benign
6	137874929	T	G	T137874929G	TNFAIP3	NM_001270508.2(TNFAIP3):c.380T>G:p.Phe127Cys	coding	Benign/Likely_benign
6	137875050	C	T	C137875050T	TNFAIP3	NM_001270508.2(TNFAIP3):c.486+15C>T	noncoding	Benign
6	137875748	C	T	C137875748T	TNFAIP3	NM_001270508.2(TNFAIP3):c.547C>T:p.Arg183Ter	coding	Pathogenic
6	137876120	C	T	C137876120T	TNFAIP3	NM_001270508.2(TNFAIP3):c.759C>T:p.Asp253=	coding	Benign
6	137876192	C	T	C137876192T	TNFAIP3	NM_001270508.2(TNFAIP3):c.805+26C>T	noncoding	Benign
6	137876194	A	C	A137876194C	TNFAIP3	NM_001270508.2(TNFAIP3):c.805+28A>C	noncoding	Benign
6	137876369	A	G	A137876369G	TNFAIP3	NM_001270508.2(TNFAIP3):c.805+203A>G	noncoding	Benign
6	137878280	G	T	G137878280T	TNFAIP3	NM_001270508.2(TNFAIP3):c.987-152G>T	noncoding	Benign
6	137878449	T	A	T137878449A	TNFAIP3	NM_001270508.2(TNFAIP3):c.1004T>A:p.Leu335Ter	coding	Pathogenic
6	137878534	G	A	G137878534A	TNFAIP3	NM_001270508.2(TNFAIP3):c.1089G>A:p.Gly363=	coding	Benign
6	137878746	C	T	C137878746T	TNFAIP3	NM_001270508.2(TNFAIP3):c.1301C>T:p.Ala434Val	coding	Benign
6	137878843	C	G	C137878843G	TNFAIP3	NM_001270508.2(TNFAIP3):c.1398C>G:p.Ser466Arg	coding	Benign
6	137878855	C	G	C137878855G	TNFAIP3	NM_001270508.2(TNFAIP3):c.1410C>G:p.Phe470Leu	coding	Benign
6	137878873	G	A	G137878873A	TNFAIP3	NM_001270508.2(TNFAIP3):c.1428G>A:p.Met476Ile	coding	Pathogenic
6	137878982	A	G	A137878982G	TNFAIP3	NM_001270508.2(TNFAIP3):c.1537A>G:p.Thr513Ala	coding	Benign
6	137879139	C	G	C137879139G	TNFAIP3	NM_001270508.2(TNFAIP3):c.1694C>G:p.Ser565Ter	coding	Pathogenic
6	137879155	C	T	C137879155T	TNFAIP3	NM_001270508.2(TNFAIP3):c.1710C>T:p.Leu570=	coding	Benign/Likely_benign
6	137879173	G	A	G137879173A	TNFAIP3	NM_001270508.2(TNFAIP3):c.1728G>A:p.Pro576=	coding	Benign
6	138092158	C	T	C138092158T	PERP	NM_022121.5(PERP):c.466G>A:p.Gly156Arg	coding	Pathogenic
6	138092165	G	C	G138092165C	PERP	NM_022121.5(PERP):c.459C>G:p.Tyr153Ter	coding	Pathogenic
6	138092165	G	T	G138092165T	PERP	NM_022121.5(PERP):c.459C>A:p.Tyr153Ter	coding	Pathogenic
6	138092171	C	T	C138092171T	PERP	NM_022121.5(PERP):c.453G>A:p.Trp151Ter	coding	Pathogenic
6	138092172	C	T	C138092172T	PERP	NM_022121.5(PERP):c.452G>A:p.Trp151Ter	coding	Pathogenic
6	138907487	T	C	T138907487C	REPS1	NM_001286611.2(REPS1):c.2322+8A>G	noncoding	Benign
6	138908735	C	T	C138908735T	REPS1	NM_001286611.2(REPS1):c.2149G>A:p.Val717Ile	coding	Benign
6	138908823	G	A	G138908823A	REPS1	NM_001286611.2(REPS1):c.2068-7C>T	noncoding	Benign
6	138911287	G	A	G138911287A	REPS1	NM_001286611.2(REPS1):c.2056C>T:p.Pro686Ser	coding	Benign/Likely_benign
6	138911306	T	G	T138911306G	REPS1	NM_001286611.2(REPS1):c.2037A>C:p.Glu679Asp	coding	Benign
6	138912789	G	A	G138912789A	REPS1	NM_001286611.2(REPS1):c.1947C>T:p.Ala649=	coding	Benign
6	138912947	G	A	G138912947A	REPS1	NM_001286611.2(REPS1):c.1789C>T:p.Pro597Ser	coding	Benign
6	138920195	A	G	A138920195G	REPS1	NM_001286611.2(REPS1):c.1528+20T>C	noncoding	Benign
6	138920234	G	A	G138920234A	REPS1	NM_001286611.2(REPS1):c.1509C>T:p.Phe503=	coding	Benign
6	138945265	G	A	G138945265A	REPS1	NM_001286611.2(REPS1):c.582C>T:p.Leu194=	coding	Benign
6	138947782	A	G	A138947782G	REPS1	NM_001286611.2(REPS1):c.277+8T>C	noncoding	Benign
6	139373924	G	T	G139373924T	CITED2	NM_006079.5(CITED2):c.21C>A:p.Ala7=	coding	Benign
6	139374049	G	A	G139374049A	CITED2	NM_006079.5(CITED2):c.-8-97C>T	noncoding	Benign
6	139374428	T	A	T139374428A	CITED2	NM_006079.5(CITED2):c.-24A>T	noncoding	Benign
6	142075653	G	T	G142075653T	NMBR	NM_002511.4(NMBR):c.1168C>A:p.Leu390Met	coding	Benign
6	142301686	A	G	A142301686G	ADGRG6	Single_allele	noncoding	Benign
6	142301818	A	G	A142301818G	ADGRG6	Single_allele	noncoding	Benign
6	142301821	C	T	C142301821T	ADGRG6	Single_allele	noncoding	Benign
6	142301906	T	C	T142301906C	ADGRG6	Single_allele	noncoding	Benign
6	142302016	T	G	T142302016G	ADGRG6	NM_198569.3(ADGRG6):c.-314T>G	noncoding	Benign
6	142302064	C	T	C142302064T	ADGRG6	NM_198569.3(ADGRG6):c.-266C>T	noncoding	Benign
6	142302089	G	A	G142302089A	ADGRG6	NM_198569.3(ADGRG6):c.-241G>A	noncoding	Benign
6	142302091	C	T	C142302091T	ADGRG6	NM_198569.3(ADGRG6):c.-239C>T	noncoding	Benign
6	142302510	A	G	A142302510G	ADGRG6	NM_198569.3(ADGRG6):c.2+179A>G	noncoding	Benign
6	142309521	A	G	A142309521G	ADGRG6	NM_198569.3(ADGRG6):c.3-23A>G	noncoding	Benign
6	142367690	C	T	C142367690T	ADGRG6	NM_198569.3(ADGRG6):c.225C>T:p.Thr75=	coding	Benign
6	142367832	A	G	A142367832G	ADGRG6	NM_198569.3(ADGRG6):c.367A>G:p.Ser123Gly	coding	Benign
6	142370941	C	A	C142370941A	ADGRG6	NM_198569.3(ADGRG6):c.1069+148C>A	noncoding	Benign
6	142382000	C	T	C142382000T	ADGRG6	NM_198569.3(ADGRG6):c.1119C>T:p.Asp373=	coding	Benign
6	142383933	G	A	G142383933A	ADGRG6	NM_198569.3(ADGRG6):c.1222+90G>A	noncoding	Benign
6	142394058	T	C	T142394058C	ADGRG6	NM_198569.3(ADGRG6):c.1424+100T>C	noncoding	Benign
6	142397488	T	C	T142397488C	ADGRG6	NM_198569.3(ADGRG6):c.1425-125T>C	noncoding	Benign
6	142400268	A	G	A142400268G	ADGRG6	NM_198569.3(ADGRG6):c.1568-217A>G	noncoding	Benign
6	142401865	G	A	G142401865A	ADGRG6	NM_198569.3(ADGRG6):c.1680-129G>A	noncoding	Benign
6	142402578	T	G	T142402578G	ADGRG6	NM_198569.3(ADGRG6):c.1745-42T>G	noncoding	Benign
6	142403674	C	T	C142403674T	ADGRG6	NM_198569.3(ADGRG6):c.1956-128C>T	noncoding	Benign
6	142403781	C	T	C142403781T	ADGRG6	NM_198569.3(ADGRG6):c.1956-21C>T	noncoding	Benign
6	142404045	G	C	G142404045C	ADGRG6	NM_198569.3(ADGRG6):c.2127+72G>C	noncoding	Benign
6	142405779	T	A	T142405779A	ADGRG6	NM_198569.3(ADGRG6):c.2219T>A:p.Leu740Ter	coding	Pathogenic
6	142414733	G	T	G142414733T	ADGRG6	NM_198569.3(ADGRG6):c.2542-236G>T	noncoding	Benign
6	142417156	T	G	T142417156G	ADGRG6	NM_198569.3(ADGRG6):c.2939-117T>G	noncoding	Benign
6	142417230	C	T	C142417230T	ADGRG6	NM_198569.3(ADGRG6):c.2939-43C>T	noncoding	Benign
6	142437247	C	T	C142437247T	ADGRG6	NM_198569.3(ADGRG6):c.3320-187C>T	noncoding	Benign
6	142438494	G	A	G142438494A	ADGRG6	NM_198569.3(ADGRG6):c.3574+130G>A	noncoding	Benign
6	142759778	C	G	C142759778G	HIVEP2	NM_006734.4(HIVEP2):c.6510G>C:p.Gly2170=	coding	Benign
6	142759898	A	G	A142759898G	HIVEP2	NM_006734.4(HIVEP2):c.6390T>C:p.Ser2130=	coding	Benign
6	142760398	C	A	C142760398A	HIVEP2	NM_006734.4(HIVEP2):c.5890G>T:p.Gly1964Ter	coding	Pathogenic
6	142769597	T	C	T142769597C	HIVEP2	NM_006734.4(HIVEP2):c.5142A>G:p.Gly1714=	coding	Benign
6	142769666	C	T	C142769666T	HIVEP2	NM_006734.4(HIVEP2):c.5073G>A:p.Leu1691=	coding	Benign
6	142770098	G	T	G142770098T	HIVEP2	NM_006734.4(HIVEP2):c.4641C>A:p.Ser1547=	coding	Benign
6	142770126	A	G	A142770126G	HIVEP2	NM_006734.4(HIVEP2):c.4613T>C:p.Leu1538Pro	coding	Benign
6	142770632	G	A	G142770632A	HIVEP2	NM_006734.4(HIVEP2):c.4107C>T:p.Val1369=	coding	Benign
6	142771014	T	C	T142771014C	HIVEP2	NM_006734.4(HIVEP2):c.3725A>G:p.Tyr1242Cys	coding	Benign
6	142771334	T	C	T142771334C	HIVEP2	NM_006734.4(HIVEP2):c.3405A>G:p.Pro1135=	coding	Benign
6	142771617	G	A	G142771617A	HIVEP2	NM_006734.4(HIVEP2):c.3122C>T:p.Ala1041Val	coding	Benign
6	142773017	G	A	G142773017A	HIVEP2	NM_006734.4(HIVEP2):c.1722C>T:p.Asp574=	coding	Benign
6	142774496	C	G	C142774496G	HIVEP2	NM_006734.4(HIVEP2):c.243G>C:p.Glu81Asp	coding	Benign
6	143451059	G	A	G143451059A	PEX3	NM_003630.3(PEX3):c.17G>A:p.Trp6Ter	coding	Pathogenic
6	143451174	C	T	C143451174T	PEX3	NM_003630.3(PEX3):c.73+59C>T	noncoding	Benign
6	143458833	A	G	A143458833G	PEX3	NM_003630.3(PEX3):c.74-252A>G	noncoding	Benign
6	143459168	C	T	C143459168T	PEX3	NM_003630.3(PEX3):c.157C>T:p.Arg53Ter	coding	Pathogenic
6	143459171	C	T	C143459171T	PEX3	NM_003630.3(PEX3):c.160C>T:p.Arg54Ter	coding	Pathogenic
6	143459518	A	G	A143459518G	PEX3	NM_003630.3(PEX3):c.205+302A>G	noncoding	Benign
6	143462815	T	C	T143462815C	PEX3	NM_003630.3(PEX3):c.206-101T>C	noncoding	Benign
6	143467903	G	A	G143467903A	PEX3	NM_003630.3(PEX3):c.288-219G>A	noncoding	Benign
6	143468044	A	T	A143468044T	PEX3	NM_003630.3(PEX3):c.288-78A>T	noncoding	Benign
6	143468443	A	T	A143468443T	PEX3	NM_003630.3(PEX3):c.331+278A>T	noncoding	Benign
6	143471282	A	G	A143471282G	PEX3	NM_003630.3(PEX3):c.457-101A>G	noncoding	Benign
6	143472018	G	A	G143472018A	PEX3	NM_003630.3(PEX3):c.579-142G>A	noncoding	Benign
6	143472511	C	T	C143472511T	PEX3	NM_003630.3(PEX3):c.747+183C>T	noncoding	Benign
6	143474523	A	G	A143474523G	PEX3	NM_003630.3(PEX3):c.748-263A>G	noncoding	Benign
6	143475062	A	G	A143475062G	PEX3	NM_003630.3(PEX3):c.818+206A>G	noncoding	Benign
6	143475124	G	C	G143475124C	PEX3	NM_003630.3(PEX3):c.818+268G>C	noncoding	Benign
6	143479390	G	A	G143479390A	PEX3	NM_003630.3(PEX3):c.941+192G>A	noncoding	Benign
6	143485414	G	A	G143485414A	PEX3	NM_003630.3(PEX3):c.1038+166G>A	noncoding	Benign
6	143488856	C	G	C143488856G	PEX3	NM_003630.3(PEX3):c.1039-287C>G	noncoding	Benign
6	144186710	C	A	C144186710A	STX11	NM_003764.4(STX11):c.83C>A:p.Ser28Ter	coding	Pathogenic
6	144186800	T	C	T144186800C	STX11	NM_003764.4(STX11):c.173T>C:p.Leu58Pro	coding	Pathogenic
6	144187075	G	T	G144187075T	STX11	NM_003764.4(STX11):c.448G>T:p.Glu150Ter	coding	Pathogenic
6	144291533	T	G	T144291533G	UTRN	NM_007124.3(UTRN):c.-92-204T>G	noncoding	Benign
6	144291828	G	A	G144291828A	UTRN	NM_007124.3(UTRN):c.-1G>A	noncoding	Benign
6	144292201	C	T	C144292201T	UTRN	NM_007124.3(UTRN):c.79+294C>T	noncoding	Benign
6	144429934	G	A	G144429934A	UTRN	NM_007124.3(UTRN):c.855+193G>A	noncoding	Benign
6	144435730	A	C	A144435730C	UTRN	NM_007124.3(UTRN):c.856-205A>C	noncoding	Benign
6	144437663	A	G	A144437663G	UTRN	NM_007124.3(UTRN):c.1158A>G:p.Glu386=	coding	Benign
6	144440247	A	G	A144440247G	UTRN	NM_007124.3(UTRN):c.1393-105A>G	noncoding	Benign
6	144440293	G	A	G144440293A	UTRN	NM_007124.3(UTRN):c.1393-59G>A	noncoding	Benign
6	144444270	C	T	C144444270T	UTRN	NM_007124.3(UTRN):c.1513-11C>T	noncoding	Benign
6	144447967	A	G	A144447967G	UTRN	NM_007124.3(UTRN):c.1902+186A>G	noncoding	Benign
6	144451689	T	G	T144451689G	UTRN	NM_007124.3(UTRN):c.2196+196T>G	noncoding	Benign
6	144473649	C	T	C144473649T	UTRN	NM_007124.3(UTRN):c.3067-71C>T	noncoding	Benign
6	144474909	A	G	A144474909G	UTRN	NM_007124.3(UTRN):c.3336+150A>G	noncoding	Benign
6	144479560	G	T	G144479560T	UTRN	NM_007124.3(UTRN):c.3337-252G>T	noncoding	Benign
6	144482411	G	A	G144482411A	UTRN	NM_007124.3(UTRN):c.3687+23G>A	noncoding	Benign
6	144485555	C	T	C144485555T	UTRN	NM_007124.3(UTRN):c.3822+36C>T	noncoding	Benign
6	144513904	T	C	T144513904C	UTRN	NM_007124.3(UTRN):c.4945-5T>C	noncoding	Benign
6	144521955	A	T	A144521955T	UTRN	NM_007124.3(UTRN):c.5542-25A>T	noncoding	Benign
6	144522722	A	G	A144522722G	UTRN	NM_007124.3(UTRN):c.5734-294A>G	noncoding	Benign
6	144530854	T	G	T144530854G	UTRN	NM_007124.3(UTRN):c.5907-198T>G	noncoding	Benign
6	144533401	G	A	G144533401A	UTRN	NM_007124.3(UTRN):c.6233+141G>A	noncoding	Benign
6	144533465	T	C	T144533465C	UTRN	NM_007124.3(UTRN):c.6233+205T>C	noncoding	Benign
6	144548649	A	G	A144548649G	UTRN	NM_007124.3(UTRN):c.6605A>G:p.Asn2202Ser	coding	Benign
6	144548904	T	C	T144548904C	UTRN	NM_007124.3(UTRN):c.6810+50T>C	noncoding	Benign
6	144550915	C	A	C144550915A	UTRN	NM_007124.3(UTRN):c.6811-50C>A	noncoding	Benign
6	144551175	A	G	A144551175G	UTRN	NM_007124.3(UTRN):c.6928+93A>G	noncoding	Benign
6	144678662	G	C	G144678662C	UTRN	NM_007124.3(UTRN):c.7652+84G>C	noncoding	Benign
6	144730458	G	A	G144730458A	UTRN	NM_007124.3(UTRN):c.7911G>A:p.Glu2637=	coding	Benign
6	144730672	A	C	A144730672C	UTRN	NM_007124.3(UTRN):c.7939+186A>C	noncoding	Benign
6	144748151	C	T	C144748151T	UTRN	NM_007124.3(UTRN):c.7940-95C>T	noncoding	Benign
6	144751765	T	C	T144751765C	UTRN	NM_007124.3(UTRN):c.8209-41T>C	noncoding	Benign
6	144754588	C	T	C144754588T	UTRN	NM_007124.3(UTRN):c.8356-132C>T	noncoding	Benign
6	144754910	C	G	C144754910G	UTRN	NM_007124.3(UTRN):c.8434+112C>G	noncoding	Benign
6	144781711	A	G	A144781711G	UTRN	NM_007124.3(UTRN):c.8633-211A>G	noncoding	Benign
6	144782341	G	T	G144782341T	UTRN	NM_007124.3(UTRN):c.8834+218G>T	noncoding	Benign
6	144793544	A	G	A144793544G	UTRN	NM_007124.3(UTRN):c.8921-290A>G	noncoding	Benign
6	144793793	T	C	T144793793C	UTRN	NM_007124.3(UTRN):c.8921-41T>C	noncoding	Benign
6	144793799	A	G	A144793799G	UTRN	NM_007124.3(UTRN):c.8921-35A>G	noncoding	Benign
6	144794283	C	T	C144794283T	UTRN	NM_007124.3(UTRN):c.9078+292C>T	noncoding	Benign
6	144797805	A	G	A144797805G	UTRN	NM_007124.3(UTRN):c.9079-19A>G	noncoding	Benign
6	144803015	A	G	A144803015G	UTRN	NM_007124.3(UTRN):c.9246-21A>G	noncoding	Benign
6	144803159	C	A	C144803159A	UTRN	NM_007124.3(UTRN):c.9357+12C>A	noncoding	Benign
6	144820735	C	T	C144820735T	UTRN	NM_007124.3(UTRN):c.9358-147C>T	noncoding	Benign
6	144821345	A	G	A144821345G	UTRN	NM_007124.3(UTRN):c.9494+327A>G	noncoding	Benign
6	144827554	A	C	A144827554C	UTRN	NM_007124.3(UTRN):c.9534-57A>C	noncoding	Benign
6	144828574	A	G	A144828574G	UTRN	NM_007124.3(UTRN):c.9600-216A>G	noncoding	Benign
6	144828582	G	A	G144828582A	UTRN	NM_007124.3(UTRN):c.9600-208G>A	noncoding	Benign
6	144836570	C	T	C144836570T	UTRN	NM_007124.3(UTRN):c.10065+29C>T	noncoding	Benign
6	144836614	G	C	G144836614C	UTRN	NM_007124.3(UTRN):c.10065+73G>C	noncoding	Benign
6	144840865	A	G	A144840865G	UTRN	NM_007124.3(UTRN):c.10270+33A>G	noncoding	Benign
6	144841089	A	G	A144841089G	UTRN	NM_007124.3(UTRN):c.10270+257A>G	noncoding	Benign
6	144846842	C	G	C144846842G	UTRN	NM_007124.3(UTRN):c.10293+15C>G	noncoding	Benign
6	144846877	G	A	G144846877A	UTRN	NM_007124.3(UTRN):c.10293+50G>A	noncoding	Benign
6	144846922	A	G	A144846922G	UTRN	NM_007124.3(UTRN):c.10293+95A>G	noncoding	Benign
6	144850749	T	A	T144850749A	UTRN	NM_007124.3(UTRN):c.10294-240T>A	noncoding	Benign
6	145625777	G	A	G145625777A	EPM2A	NM_005670.4(EPM2A):c.*1639C>T	coding	Benign
6	145625944	C	T	C145625944T	EPM2A	NM_005670.4(EPM2A):c.*1472G>A	coding	Benign
6	145627253	A	C	A145627253C	EPM2A	NM_005670.4(EPM2A):c.*163T>G	coding	Benign
6	145635657	G	C	G145635657C	EPM2A	NM_005670.4(EPM2A):c.477-171C>G	noncoding	Benign
6	145686087	T	A	T145686087A	EPM2A	NM_005670.4(EPM2A):c.476+35A>T	noncoding	Benign
6	145686297	C	G	C145686297G	EPM2A	NM_005670.4(EPM2A):c.302-1G>C	coding	Pathogenic/Likely_pathogenic
6	145686298	T	C	T145686298C	EPM2A	NM_005670.4(EPM2A):c.302-2A>G	noncoding	Pathogenic
6	145735241	G	C	G145735241C	EPM2A	NM_005670.4(EPM2A):c.258C>G:p.Tyr86Ter	coding	Pathogenic
6	145735336	G	T	G145735336T	EPM2A	NM_005670.4(EPM2A):c.163C>A:p.Gln55Lys	coding	Benign
6	145735481	C	T	C145735481T	EPM2A	NM_005670.4(EPM2A):c.18G>A:p.Gly6=	coding	Benign/Likely_benign
6	145735545	C	T	C145735545T	EPM2A	NM_005670.3(EPM2A):c.-47G>A	noncoding	Benign
6	146029012	A	G	A146029012G	GRM1	NM_001278065.2(GRM1):c.-320-186A>G	noncoding	Benign
6	146029128	T	C	T146029128C	GRM1	NM_001278064.2(GRM1):c.-390T>C	noncoding	Benign
6	146159633	T	A	T146159633A	GRM1	NM_001278064.2(GRM1):c.950+36T>A	noncoding	Benign
6	146159635	T	A	T146159635A	GRM1	NM_001278064.2(GRM1):c.950+38T>A	noncoding	Benign
6	146159637	T	A	T146159637A	GRM1	NM_001278064.2(GRM1):c.950+40T>A	noncoding	Benign
6	146159639	T	A	T146159639A	GRM1	NM_001278064.2(GRM1):c.950+42T>A	noncoding	Benign
6	146159888	T	C	T146159888C	GRM1	NM_001278064.2(GRM1):c.950+291T>C	noncoding	Benign
6	146159916	T	A	T146159916A	GRM1	NM_001278064.2(GRM1):c.950+319T>A	noncoding	Benign
6	146352506	T	C	T146352506C	GRM1	NM_001278064.2(GRM1):c.1433+10T>C	noncoding	Benign/Likely_benign
6	146352600	G	A	G146352600A	GRM1	NM_001278064.2(GRM1):c.1433+104G>A	noncoding	Benign
6	146357496	T	C	T146357496C	GRM1	NM_001278064.2(GRM1):c.1434-30T>C	noncoding	Benign
6	146357703	C	G	C146357703G	GRM1	NM_001278064.2(GRM1):c.1602+9C>G	noncoding	Benign
6	146357793	T	C	T146357793C	GRM1	NM_001278064.2(GRM1):c.1602+99T>C	noncoding	Benign
6	146357816	A	G	A146357816G	GRM1	NM_001278064.2(GRM1):c.1602+122A>G	noncoding	Benign
6	146398578	T	C	T146398578C	GRM1	NM_001278064.2(GRM1):c.1730-191T>C	noncoding	Benign
6	146398696	G	C	G146398696C	GRM1	NM_001278064.2(GRM1):c.1730-73G>C	noncoding	Benign
6	146398734	T	C	T146398734C	GRM1	NM_001278064.2(GRM1):c.1730-35T>C	noncoding	Benign
6	146398747	C	A	C146398747A	GRM1	NM_001278064.2(GRM1):c.1730-22C>A	noncoding	Benign
6	146399224	C	A	C146399224A	GRM1	NM_001278064.2(GRM1):c.2185C>A:p.Pro729Thr	coding	Benign/Likely_benign
6	146399690	G	A	G146399690A	GRM1	NM_001278064.2(GRM1):c.2651G>A:p.Gly884Glu	coding	Benign/Likely_benign
6	146399830	C	A	C146399830A	GRM1	NM_001278064.2(GRM1):c.2660+131C>A	noncoding	Benign
6	146426373	G	T	G146426373T	GRM1	NM_001278064.2(GRM1):c.2661-7499G>T	noncoding	Benign
6	146433828	G	A	G146433828A	GRM1	NM_001278064.2(GRM1):c.2661-44G>A	noncoding	Benign
6	146433996	G	A	G146433996A	GRM1	NM_001278064.2(GRM1):c.2785G>A:p.Val929Ile	coding	Benign/Likely_benign
6	146434372	G	A	G146434372A	GRM1	NM_001278064.2(GRM1):c.3161G>A:p.Gly1054Asp	coding	Benign/Likely_benign
6	146435017	T	C	T146435017C	GRM1	NM_001278064.2(GRM1):c.*221T>C	noncoding	Benign
6	148343268	G	A	G148343268A	SASH1	NM_015278.5(SASH1):c.156+45G>A	noncoding	Benign
6	148439903	G	A	G148439903A	SASH1	NM_015278.5(SASH1):c.286-281G>A	noncoding	Benign
6	148439903	G	T	G148439903T	SASH1	NM_015278.5(SASH1):c.286-281G>T	noncoding	Benign
6	148440320	G	C	G148440320C	SASH1	NM_015278.5(SASH1):c.337-38G>C	noncoding	Benign
6	148440467	C	A	C148440467A	SASH1	NM_015278.5(SASH1):c.386+60C>A	noncoding	Benign
6	148468234	G	A	G148468234A	SASH1	NM_015278.5(SASH1):c.387-311G>A	noncoding	Benign
6	148468280	T	C	T148468280C	SASH1	NM_015278.5(SASH1):c.387-265T>C	noncoding	Benign
6	148468342	T	C	T148468342C	SASH1	NM_015278.5(SASH1):c.387-203T>C	noncoding	Benign
6	148468797	C	G	C148468797G	SASH1	NM_015278.5(SASH1):c.427+212C>G	noncoding	Benign
6	148471481	A	G	A148471481G	SASH1	NM_015278.5(SASH1):c.492A>G:p.Gly164=	coding	Benign
6	148471716	T	G	T148471716G	SASH1	NM_015278.5(SASH1):c.514+213T>G	noncoding	Benign
6	148473997	A	G	A148473997G	SASH1	NM_015278.5(SASH1):c.515-113A>G	noncoding	Benign
6	148474336	T	C	T148474336C	SASH1	NM_015278.5(SASH1):c.627+114T>C	noncoding	Benign
6	148487276	G	A	G148487276A	SASH1	NM_015278.5(SASH1):c.628-338G>A	noncoding	Benign
6	148487488	G	C	G148487488C	SASH1	NM_015278.5(SASH1):c.628-126G>C	noncoding	Benign
6	148487495	G	T	G148487495T	SASH1	NM_015278.5(SASH1):c.628-119G>T	noncoding	Benign
6	148487918	G	T	G148487918T	SASH1	NM_015278.5(SASH1):c.729+203G>T	noncoding	Benign
6	148514280	C	T	C148514280T	SASH1	NM_015278.5(SASH1):c.730-44C>T	noncoding	Benign
6	148514506	A	G	A148514506G	SASH1	NM_015278.5(SASH1):c.862+50A>G	noncoding	Benign
6	148519875	C	T	C148519875T	SASH1	NM_015278.5(SASH1):c.1191C>T:p.Leu397=	coding	Benign
6	148524999	T	C	T148524999C	SASH1	NM_015278.5(SASH1):c.1210-292T>C	noncoding	Benign
6	148527783	C	T	C148527783T	SASH1	NM_015278.5(SASH1):c.1428+187C>T	noncoding	Benign
6	148527860	A	G	A148527860G	SASH1	NM_015278.5(SASH1):c.1428+264A>G	noncoding	Benign
6	148531255	T	C	T148531255C	SASH1	NM_015278.5(SASH1):c.1429-271T>C	noncoding	Benign
6	148532731	T	C	T148532731C	SASH1	NM_015278.5(SASH1):c.1565-66T>C	noncoding	Benign
6	148533226	G	A	G148533226A	SASH1	NM_015278.5(SASH1):c.1734+260G>A	noncoding	Benign
6	148533647	T	C	T148533647C	SASH1	NM_015278.5(SASH1):c.1735-124T>C	noncoding	Benign
6	148533734	G	C	G148533734C	SASH1	NM_015278.5(SASH1):c.1735-37G>C	noncoding	Benign
6	148533848	G	A	G148533848A	SASH1	NM_015278.5(SASH1):c.1812G>A:p.Thr604=	coding	Benign
6	148540580	G	A	G148540580A	SASH1	NM_015278.5(SASH1):c.2209+24G>A	noncoding	Benign
6	148543929	G	A	G148543929A	SASH1	NM_015278.5(SASH1):c.2459G>A:p.Arg820Gln	coding	Benign/Likely_benign
6	148544121	A	G	A148544121G	SASH1	NM_015278.5(SASH1):c.2651A>G:p.Gln884Arg	coding	Benign
6	148544955	A	G	A148544955G	SASH1	NM_015278.5(SASH1):c.3348+137A>G	noncoding	Benign
6	148548234	G	A	G148548234A	SASH1	NM_015278.5(SASH1):c.3481-61G>A	noncoding	Benign
6	148548774	C	T	C148548774T	SASH1	NM_015278.5(SASH1):c.*216C>T	noncoding	Benign
6	149369589	A	C	A149369589C	TAB2	NM_001292034.3(TAB2):c.-89-320A>C	noncoding	Benign
6	149369601	A	G	A149369601G	TAB2	NM_001292034.3(TAB2):c.-89-308A>G	noncoding	Benign
6	149370018	A	G	A149370018G	TAB2	NM_001292034.3(TAB2):c.21A>G:p.Gln7=	coding	Benign
6	149370219	T	G	T149370219G	TAB2	NM_001292034.3(TAB2):c.102+120T>G	noncoding	Benign
6	149377766	G	T	G149377766T	TAB2	NM_001292034.3(TAB2):c.103-252G>T	noncoding	Benign
6	149377880	A	T	A149377880T	TAB2	NM_001292034.3(TAB2):c.103-138A>T	noncoding	Benign
6	149378197	A	G	A149378197G	TAB2	NM_001292034.3(TAB2):c.282A>G:p.Gly94=	coding	Benign/Likely_benign
6	149378290	G	A	G149378290A	TAB2	NM_001292034.3(TAB2):c.375G>A:p.Glu125=	coding	Benign
6	149378361	C	G	C149378361G	TAB2	NM_001292034.3(TAB2):c.446C>G:p.Ser149Ter	coding	Pathogenic
6	149378814	C	A	C149378814A	TAB2	NM_001292034.3(TAB2):c.899C>A:p.Ser300Ter	coding	Pathogenic/Likely_pathogenic
6	149378879	C	T	C149378879T	TAB2	NM_001292034.3(TAB2):c.964C>T:p.Arg322Ter	coding	Pathogenic
6	149378954	C	T	C149378954T	TAB2	NM_001292034.3(TAB2):c.1039C>T:p.Arg347Ter	coding	Pathogenic/Likely_pathogenic
6	149378992	C	T	C149378992T	TAB2	NM_001292034.3(TAB2):c.1077C>T:p.Thr359=	coding	Benign
6	149379269	C	T	C149379269T	TAB2	NM_001292034.3(TAB2):c.1354C>T:p.Arg452Ter	coding	Pathogenic
6	149379295	G	A	G149379295A	TAB2	NM_001292034.3(TAB2):c.1380G>A:p.Thr460=	coding	Benign/Likely_benign
6	149379355	G	A	G149379355A	TAB2	NM_001292034.3(TAB2):c.1440G>A:p.Val480=	coding	Benign
6	149379669	G	A	G149379669A	TAB2	NM_001292034.3(TAB2):c.1603+151G>A	noncoding	Benign
6	149379737	A	T	A149379737T	TAB2	NM_001292034.3(TAB2):c.1603+219A>T	noncoding	Benign
6	149379806	C	G	C149379806G	TAB2	NM_001292034.3(TAB2):c.1603+288C>G	noncoding	Benign
6	149397514	C	T	C149397514T	TAB2	NM_001292034.3(TAB2):c.1604-90C>T	noncoding	Benign
6	149397765	G	A	G149397765A	TAB2	NM_001292034.3(TAB2):c.1764+1G>A	coding	Pathogenic/Likely_pathogenic
6	149398264	G	A	G149398264A	TAB2	NM_001292034.3(TAB2):c.1858+202G>A	noncoding	Benign
6	149398831	A	T	A149398831T	TAB2	NM_001292034.3(TAB2):c.1859-273A>T	noncoding	Benign
6	149399056	T	A	T149399056A	TAB2	NM_001292034.3(TAB2):c.1859-48T>A	noncoding	Benign
6	149400554	G	A	G149400554A	SUMO4;TAB2	NM_001002255.2(SUMO4):c.163G>A:p.Val55Met	coding	Benign
6	149409710	G	A	G149409710A	TAB2	NM_001292034.3(TAB2):c.2073G>A:p.Arg691=	coding	Benign
6	150389311	G	A	G150389311A	IYD	NM_203395.3(IYD):c.179-41G>A	noncoding	Benign
6	150392633	C	T	C150392633T	IYD	NM_203395.3(IYD):c.530+129C>T	noncoding	Benign
6	150392646	C	T	C150392646T	IYD	NM_203395.3(IYD):c.530+142C>T	noncoding	Benign
6	150394332	G	A	G150394332A	IYD	NM_203395.3(IYD):c.687+77G>A	noncoding	Benign
6	150394481	T	C	T150394481C	IYD	NM_203395.3(IYD):c.687+226T>C	noncoding	Benign
6	150394530	C	A	C150394530A	IYD	NM_203395.3(IYD):c.687+275C>A	noncoding	Benign
6	150395138	G	A	G150395138A	IYD	NM_203395.3(IYD):c.687+883G>A	noncoding	Benign
6	150395303	A	C	A150395303C	IYD	NM_203395.3(IYD):c.687+1048A>C	noncoding	Benign
6	150395313	G	A	G150395313A	IYD	NM_203395.3(IYD):c.687+1058G>A	noncoding	Benign
6	150395397	T	A	T150395397A	IYD	NM_203395.3(IYD):c.687+1142T>A	coding	Benign
6	150395561	G	A	G150395561A	IYD	NM_203395.3(IYD):c.687+1306G>A	coding	Benign
6	150395752	G	T	G150395752T	IYD	NM_203395.3(IYD):c.687+1497G>T	noncoding	Benign
6	150397801	A	G	A150397801G	IYD	NM_203395.3(IYD):c.688-254A>G	noncoding	Benign
6	150398178	G	A	G150398178A	IYD	NM_203395.3(IYD):c.811G>A:p.Glu271Lys	coding	Benign
6	150398244	C	T	C150398244T	IYD	NM_203395.3(IYD):c.*7C>T	noncoding	Benign
6	150398268	T	C	T150398268C	IYD	NM_203395.3(IYD):c.*31T>C	noncoding	Benign
6	150398278	G	A	G150398278A	IYD	NM_203395.3(IYD):c.*41G>A	noncoding	Benign
6	150398477	G	T	G150398477T	IYD	NM_203395.3(IYD):c.*240G>T	noncoding	Benign
6	151365770	C	T	C151365770T	ZBTB2	NM_020861.3(ZBTB2):c.1296G>A:p.Glu432=	coding	Benign
6	151405165	G	C	G151405165C	RMND1	NM_017909.4(RMND1):c.*70C>G	noncoding	Benign
6	151405264	T	G	T151405264G	RMND1	NM_017909.4(RMND1):c.1321A>C:p.Met441Leu	coding	Benign/Likely_benign
6	151405621	T	C	T151405621C	RMND1	NM_017909.4(RMND1):c.1317+99A>G	noncoding	Benign
6	151405694	C	T	C151405694T	RMND1	NM_017909.4(RMND1):c.1317+26G>A	noncoding	Benign
6	151405828	A	G	A151405828G	RMND1	NM_017909.4(RMND1):c.1209T>C:p.Asn403=	coding	Benign/Likely_benign
6	151417719	A	G	A151417719G	RMND1	NM_017909.4(RMND1):c.1080-320T>C	noncoding	Benign
6	151421406	T	C	T151421406C	RMND1	NM_017909.4(RMND1):c.1003-85A>G	noncoding	Benign
6	151422494	A	C	A151422494C	RMND1	NM_017909.4(RMND1):c.1002+47T>G	noncoding	Benign
6	151422813	A	G	A151422813G	RMND1	NM_017909.4(RMND1):c.938-208T>C	noncoding	Benign
6	151423676	C	A	C151423676A	RMND1	NM_017909.4(RMND1):c.831-45G>T	noncoding	Benign
6	151432923	G	A	G151432923A	RMND1	NM_017909.4(RMND1):c.689+232C>T	noncoding	Benign
6	151436197	T	C	T151436197C	RMND1	NM_017909.4(RMND1):c.613+249A>G	noncoding	Benign
6	151436825	G	A	G151436825A	RMND1	NM_017909.4(RMND1):c.505-271C>T	noncoding	Benign
6	151445745	G	A	G151445745A	RMND1	NM_017909.4(RMND1):c.67C>T:p.Arg23Ter	coding	Pathogenic
6	151452071	C	G	C151452071G	RMND1	NM_017909.4(RMND1):c.-70G>C	noncoding	Benign
6	151452185	T	A	T151452185A	RMND1	Single_allele	noncoding	Benign
6	151452218	G	C	G151452218C	RMND1	Single_allele	noncoding	Benign
6	151615542	G	A	G151615542A	CCDC170	NM_025059.4(CCDC170):c.1810G>A:p.Val604Ile	coding	Benign
6	151618713	C	T	C151618713T	CCDC170	NM_025059.4(CCDC170):c.*566C>T	noncoding	Benign
6	151627231	G	A	G151627231A	CCDC170	NC_000006.12:g.151627231G>A	noncoding	Benign
6	151807496	C	G	C151807496G	ESR1	NM_001122740.2(ESR1):c.-84C>G	noncoding	Benign
6	151807507	A	G	A151807507G	ESR1	NM_001122740.2(ESR1):c.-73A>G	noncoding	Benign
6	151807942	T	C	T151807942C	ESR1	NM_000125.4(ESR1):c.30T>C:p.Ser10=	coding	Benign
6	151808173	G	C	G151808173C	ESR1	NM_000125.4(ESR1):c.261G>C:p.Ala87=	coding	Benign
6	151808453	C	T	C151808453T	ESR1	NM_000125.4(ESR1):c.452+89C>T	noncoding	Benign
6	151808611	G	T	G151808611T	ESR1	NM_000125.4(ESR1):c.452+247G>T	noncoding	Benign
6	151880872	T	C	T151880872C	ESR1	NM_000125.4(ESR1):c.760+101T>C	noncoding	Benign
6	151944524	G	A	G151944524A	ESR1	NM_000125.4(ESR1):c.1096+16G>A	noncoding	Benign
6	152011383	A	G	A152011383G	ESR1	NM_000125.4(ESR1):c.1097-273A>G	noncoding	Benign
6	152011849	T	C	T152011849C	ESR1	NM_000125.4(ESR1):c.1235+55T>C	noncoding	Benign
6	152011969	G	A	G152011969A	ESR1	NM_000125.4(ESR1):c.1235+175G>A	noncoding	Benign
6	152060863	T	C	T152060863C	ESR1	NM_000125.4(ESR1):c.1236-128T>C	noncoding	Benign
6	152060879	A	G	A152060879G	ESR1	NM_000125.4(ESR1):c.1236-112A>G	noncoding	Benign
6	152061176	G	T	G152061176T	ESR1	NM_000125.4(ESR1):c.1369+52G>T	noncoding	Benign
6	152061190	A	G	A152061190G	ESR1	NM_000125.4(ESR1):c.1369+66A>G	noncoding	Benign
6	152061247	G	A	G152061247A	ESR1	NM_000125.4(ESR1):c.1369+123G>A	noncoding	Benign
6	152061285	A	G	A152061285G	ESR1	NM_000125.4(ESR1):c.1369+161A>G	noncoding	Benign
6	152098391	G	A	G152098391A	ESR1	NM_000125.4(ESR1):c.1554-341G>A	noncoding	Benign
6	152098960	G	A	G152098960A	ESR1	NM_000125.4(ESR1):c.1782G>A:p.Thr594=	coding	Benign
6	152130511	C	T	C152130511T	SYNE1	NM_182961.4(SYNE1):c.26153+209G>A	noncoding	Benign
6	152134963	G	A	G152134963A	SYNE1	NM_182961.4(SYNE1):c.25788+141C>T	noncoding	Benign
6	152136958	G	A	G152136958A	SYNE1	NM_182961.4(SYNE1):c.25459-140C>T	noncoding	Benign
6	152137039	G	A	G152137039A	SYNE1	NM_182961.4(SYNE1):c.25459-221C>T	noncoding	Benign
6	152140082	C	T	C152140082T	SYNE1	NM_182961.4(SYNE1):c.25326G>A:p.Trp8442Ter	coding	Pathogenic
6	152140908	G	A	G152140908A	SYNE1	NM_182961.4(SYNE1):c.25246+295C>T	noncoding	Benign
6	152145443	A	C	A152145443C	SYNE1	NM_182961.4(SYNE1):c.24977-1678T>G	noncoding	Benign/Likely_benign
6	152145467	C	T	C152145467T	SYNE1	NM_182961.4(SYNE1):c.24977-1702G>A	noncoding	Benign
6	152148069	G	A	G152148069A	SYNE1	NM_182961.4(SYNE1):c.24952C>T:p.Leu8318Phe	coding	Benign/Likely_benign
6	152148207	G	A	G152148207A	SYNE1	NM_182961.4(SYNE1):c.24814C>T:p.Arg8272Ter	coding	Pathogenic
6	152149474	T	C	T152149474C	SYNE1	NM_182961.4(SYNE1):c.24642+3A>G	noncoding	Benign/Likely_benign
6	152151634	C	T	C152151634T	SYNE1	NM_182961.4(SYNE1):c.24369G>A:p.Trp8123Ter	coding	Pathogenic
6	152154610	C	G	C152154610G	SYNE1	NM_182961.4(SYNE1):c.24129+282G>C	noncoding	Benign
6	152155209	T	G	T152155209G	SYNE1	NM_182961.4(SYNE1):c.23979-167A>C	noncoding	Benign
6	152155649	T	C	T152155649C	SYNE1	NM_182961.4(SYNE1):c.23978+261A>G	noncoding	Benign
6	152176541	G	C	G152176541C	SYNE1	NM_182961.4(SYNE1):c.23480C>G:p.Ala7827Gly	coding	Benign/Likely_benign
6	152176829	A	C	A152176829C	SYNE1	NM_182961.4(SYNE1):c.23461-269T>G	noncoding	Benign
6	152180281	C	T	C152180281T	SYNE1	NM_182961.4(SYNE1):c.23315G>A:p.Arg7772Gln	coding	Benign/Likely_benign
6	152180321	G	A	G152180321A	SYNE1	NM_182961.4(SYNE1):c.23302-27C>T	noncoding	Benign
6	152189270	C	T	C152189270T	SYNE1	NM_182961.4(SYNE1):c.23283G>A:p.Trp7761Ter	coding	Pathogenic
6	152206120	C	T	C152206120T	SYNE1	NM_182961.4(SYNE1):c.23019+48G>A	noncoding	Benign/Likely_benign
6	152208062	C	T	C152208062T	SYNE1	NM_182961.4(SYNE1):c.22734G>A:p.Trp7578Ter	coding	Pathogenic
6	152215162	T	C	T152215162C	SYNE1	NM_182961.4(SYNE1):c.22192-102A>G	noncoding	Benign
6	152218585	T	C	T152218585C	SYNE1	NM_182961.4(SYNE1):c.22045-182A>G	noncoding	Benign
6	152218838	T	C	T152218838C	SYNE1	NM_182961.4(SYNE1):c.22044+165A>G	noncoding	Benign
6	152218896	T	C	T152218896C	SYNE1	NM_182961.4(SYNE1):c.22044+107A>G	noncoding	Benign
6	152220922	G	A	G152220922A	SYNE1	NM_182961.4(SYNE1):c.21781C>T:p.Arg7261Ter	coding	Pathogenic
6	152221082	C	T	C152221082T	SYNE1	NM_182961.4(SYNE1):c.21657-36G>A	noncoding	Benign
6	152224553	G	A	G152224553A	SYNE1	NM_182961.4(SYNE1):c.21463C>T:p.Arg7155Ter	coding	Pathogenic
6	152224730	T	C	T152224730C	SYNE1	NM_182961.4(SYNE1):c.21352-66A>G	noncoding	Benign
6	152230594	G	A	G152230594A	SYNE1	NM_182961.4(SYNE1):c.21148C>T:p.Arg7050Ter	coding	Pathogenic/Likely_pathogenic
6	152233574	C	T	C152233574T	SYNE1	NM_182961.4(SYNE1):c.20712+207G>A	noncoding	Benign
6	152233602	G	A	G152233602A	SYNE1	NM_182961.4(SYNE1):c.20712+179C>T	noncoding	Benign
6	152236634	A	C	A152236634C	SYNE1	NM_182961.4(SYNE1):c.20199+183T>G	noncoding	Benign
6	152236801	G	A	G152236801A	SYNE1	NM_182961.4(SYNE1):c.20199+16C>T	noncoding	Benign/Likely_benign
6	152237062	G	A	G152237062A	SYNE1	NM_182961.4(SYNE1):c.20068-114C>T	noncoding	Benign
6	152239416	C	T	C152239416T	SYNE1	NM_182961.4(SYNE1):c.20067+117G>A	noncoding	Benign
6	152239436	T	C	T152239436C	SYNE1	NM_182961.4(SYNE1):c.20067+97A>G	noncoding	Benign
6	152239723	A	T	A152239723T	SYNE1	NM_182961.4(SYNE1):c.19894-17T>A	noncoding	Benign
6	152242239	C	A	C152242239A	SYNE1	NM_182961.4(SYNE1):c.19893+1G>T	noncoding	Pathogenic
6	152244517	C	G	C152244517G	SYNE1	NM_182961.4(SYNE1):c.19692+20G>C	noncoding	Benign
6	152249169	G	A	G152249169A	SYNE1	NM_182961.4(SYNE1):c.19564C>T:p.Gln6522Ter	coding	Pathogenic
6	152254927	G	A	G152254927A	SYNE1	NM_182961.4(SYNE1):c.19423C>T:p.Arg6475Ter	coding	Pathogenic
6	152255672	C	T	C152255672T	SYNE1	NM_182961.4(SYNE1):c.19179G>A:p.Trp6393Ter	coding	Pathogenic
6	152262049	G	A	G152262049A	SYNE1	NM_182961.4(SYNE1):c.18955C>T:p.Gln6319Ter	coding	Pathogenic
6	152278073	C	T	C152278073T	SYNE1	NM_182961.4(SYNE1):c.18573+16G>A	noncoding	Benign
6	152278231	G	C	G152278231C	SYNE1	NM_182961.4(SYNE1):c.18431C>G:p.Ser6144Ter	coding	Pathogenic
6	152278458	T	G	T152278458G	SYNE1	NM_182961.4(SYNE1):c.18382-178A>C	noncoding	Benign
6	152278462	T	A	T152278462A	SYNE1	NM_182961.4(SYNE1):c.18382-182A>T	noncoding	Benign
6	152282074	C	T	C152282074T	SYNE1	NM_182961.4(SYNE1):c.18208-94G>A	noncoding	Benign
6	152293733	C	T	C152293733T	SYNE1	NM_182961.4(SYNE1):c.17867G>A:p.Arg5956His	coding	Benign/Likely_benign
6	152300903	C	A	C152300903A	SYNE1	NM_182961.4(SYNE1):c.17542-122G>T	noncoding	Benign
6	152300992	A	G	A152300992G	SYNE1	NM_182961.4(SYNE1):c.17542-211T>C	noncoding	Benign
6	152308378	A	G	A152308378G	SYNE1	NM_182961.4(SYNE1):c.17346+111T>C	noncoding	Benign
6	152310130	A	G	A152310130G	SYNE1	NM_182961.4(SYNE1):c.17020-113T>C	noncoding	Benign
6	152310744	C	A	C152310744A	SYNE1	NM_182961.4(SYNE1):c.16840G>T:p.Glu5614Ter	coding	Pathogenic
6	152320961	C	T	C152320961T	SYNE1	NM_182961.4(SYNE1):c.16236+277G>A	noncoding	Benign
6	152321246	G	A	G152321246A	SYNE1	NM_182961.4(SYNE1):c.16228C>T:p.Arg5410Ter	coding	Pathogenic
6	152321319	G	C	G152321319C	SYNE1	NM_182961.4(SYNE1):c.16155C>G:p.Tyr5385Ter	coding	Pathogenic
6	152321363	G	A	G152321363A	SYNE1	NM_182961.4(SYNE1):c.16111C>T:p.Arg5371Ter	coding	Pathogenic
6	152322043	C	G	C152322043G	SYNE1	NM_182961.4(SYNE1):c.15918-157G>C	noncoding	Benign
6	152323860	A	G	A152323860G	SYNE1	NM_182961.4(SYNE1):c.15658-123T>C	noncoding	Benign
6	152323878	C	T	C152323878T	SYNE1	NM_182961.4(SYNE1):c.15658-141G>A	noncoding	Benign
6	152323999	A	G	A152323999G	SYNE1	NM_182961.4(SYNE1):c.15658-262T>C	noncoding	Benign
6	152325290	C	T	C152325290T	SYNE1	NM_182961.4(SYNE1):c.15451G>A:p.Val5151Met	coding	Benign/Likely_benign
6	152326092	G	A	G152326092A	SYNE1	NM_182961.4(SYNE1):c.15304C>T:p.Gln5102Ter	coding	Pathogenic
6	152326540	G	A	G152326540A	SYNE1	NM_182961.4(SYNE1):c.15049C>T:p.Gln5017Ter	coding	Pathogenic
6	152329872	A	T	A152329872T	SYNE1	NM_182961.4(SYNE1):c.14813T>A:p.Leu4938Ter	coding	Pathogenic
6	152330185	G	A	G152330185A	SYNE1	NM_182961.4(SYNE1):c.14500C>T:p.Arg4834Ter	coding	Pathogenic
6	152330404	T	C	T152330404C	SYNE1	NM_182961.4(SYNE1):c.14281A>G:p.Arg4761Gly	coding	Benign/Likely_benign
6	152332002	C	T	C152332002T	SYNE1	NM_182961.4(SYNE1):c.12795-112G>A	noncoding	Benign
6	152334285	C	T	C152334285T	SYNE1	NM_182961.4(SYNE1):c.12529-12G>A	noncoding	Benign/Likely_benign
6	152337207	T	A	T152337207A	SYNE1	NM_182961.4(SYNE1):c.12352-190A>T	noncoding	Benign
6	152337239	A	G	A152337239G	SYNE1	NM_182961.4(SYNE1):c.12352-222T>C	noncoding	Benign
6	152338947	G	A	G152338947A	SYNE1	NM_182961.4(SYNE1):c.12351+294C>T	noncoding	Benign
6	152343981	A	G	A152343981G	SYNE1	NM_182961.4(SYNE1):c.12225+100T>C	noncoding	Benign
6	152344154	C	T	C152344154T	SYNE1	NM_182961.4(SYNE1):c.12152G>A:p.Trp4051Ter	coding	Pathogenic
6	152346907	A	G	A152346907G	SYNE1	NM_182961.4(SYNE1):c.12078+152T>C	noncoding	Benign
6	152350313	G	A	G152350313A	SYNE1	NM_182961.4(SYNE1):c.11756C>T:p.Ala3919Val	coding	Benign/Likely_benign
6	152353329	C	A	C152353329A	SYNE1	NM_182961.4(SYNE1):c.11187G>T:p.Lys3729Asn	coding	Benign/Likely_benign
6	152353850	T	C	T152353850C	SYNE1	NM_182961.4(SYNE1):c.10927-106A>G	noncoding	Benign
6	152359344	G	A	G152359344A	SYNE1	NM_182961.4(SYNE1):c.10414C>T:p.Arg3472Ter	coding	Pathogenic
6	152359631	T	G	T152359631G	SYNE1	NM_182961.4(SYNE1):c.10300-173A>C	noncoding	Benign
6	152359709	T	C	T152359709C	SYNE1	NM_182961.4(SYNE1):c.10300-251A>G	noncoding	Benign
6	152362459	G	A	G152362459A	SYNE1	NM_182961.4(SYNE1):c.10146-136C>T	noncoding	Benign
6	152364831	C	T	C152364831T	SYNE1	NM_182961.4(SYNE1):c.10145+16G>A	noncoding	Benign
6	152367300	G	A	G152367300A	SYNE1	NM_182961.4(SYNE1):c.9890C>T:p.Thr3297Met	coding	Benign
6	152368928	C	T	C152368928T	SYNE1	NM_182961.4(SYNE1):c.9807+44G>A	noncoding	Benign
6	152369451	C	T	C152369451T	SYNE1	NM_182961.4(SYNE1):c.9651+20G>A	noncoding	Benign/Likely_benign
6	152373018	T	C	T152373018C	SYNE1	NM_182961.4(SYNE1):c.9507+19A>G	noncoding	Benign/Likely_benign
6	152376840	G	A	G152376840A	SYNE1	NM_182961.4(SYNE1):c.9082C>T:p.Arg3028Ter	coding	Pathogenic
6	152380861	C	T	C152380861T	SYNE1	NM_182961.4(SYNE1):c.9009+145G>A	noncoding	Benign
6	152381226	C	T	C152381226T	SYNE1	NM_182961.4(SYNE1):c.8789G>A:p.Trp2930Ter	coding	Pathogenic
6	152385708	G	C	G152385708C	SYNE1	NM_182961.4(SYNE1):c.8618C>G:p.Ser2873Ter	coding	Pathogenic
6	152390610	C	T	C152390610T	SYNE1	NM_182961.4(SYNE1):c.8005-158G>A	noncoding	Benign
6	152391167	C	T	C152391167T	SYNE1	NM_182961.4(SYNE1):c.8004+110G>A	noncoding	Benign
6	152391370	C	T	C152391370T	SYNE1	NM_182961.4(SYNE1):c.7911G>A:p.Trp2637Ter	coding	Pathogenic
6	152391595	G	A	G152391595A	SYNE1	NM_182961.4(SYNE1):c.7713-27C>T	noncoding	Benign
6	152399839	A	G	A152399839G	SYNE1	NM_182961.4(SYNE1):c.7030-16T>C	noncoding	Benign/Likely_benign
6	152401299	C	A	C152401299A	SYNE1	NM_182961.4(SYNE1):c.6868G>T:p.Glu2290Ter	coding	Pathogenic
6	152404086	C	T	C152404086T	SYNE1	NM_182961.4(SYNE1):c.6825+127G>A	noncoding	Benign
6	152404116	T	C	T152404116C	SYNE1	NM_182961.4(SYNE1):c.6825+97A>G	noncoding	Benign
6	152404118	C	T	C152404118T	SYNE1	NM_182961.4(SYNE1):c.6825+95G>A	noncoding	Benign
6	152404315	C	T	C152404315T	SYNE1	NM_182961.4(SYNE1):c.6724-1G>A	coding	Pathogenic
6	152407109	C	A	C152407109A	SYNE1	NM_182961.4(SYNE1):c.6628G>T:p.Glu2210Ter	coding	Pathogenic
6	152413049	A	C	A152413049C	SYNE1	NM_182961.4(SYNE1):c.6230+303T>G	noncoding	Benign
6	152413522	C	T	C152413522T	SYNE1	NM_182961.4(SYNE1):c.6060G>A:p.Val2020=	coding	Benign
6	152425547	C	A	C152425547A	SYNE1	NM_182961.4(SYNE1):c.5101G>T:p.Ala1701Ser	coding	Benign/Likely_benign
6	152430562	G	A	G152430562A	SYNE1	NM_182961.4(SYNE1):c.4609C>T:p.Arg1537Ter	coding	Pathogenic
6	152430610	G	A	G152430610A	SYNE1	NM_182961.4(SYNE1):c.4561C>T:p.Arg1521Ter	coding	Pathogenic
6	152430637	G	A	G152430637A	SYNE1	NM_182961.4(SYNE1):c.4534C>T:p.Gln1512Ter	coding	Pathogenic
6	152430953	T	A	T152430953A	SYNE1	NM_182961.4(SYNE1):c.4462-244A>T	noncoding	Benign
6	152440999	T	C	T152440999C	SYNE1	NM_182961.4(SYNE1):c.4149+131A>G	noncoding	Benign
6	152442056	C	T	C152442056T	SYNE1	NM_182961.4(SYNE1):c.4008+19G>A	noncoding	Benign/Likely_benign
6	152449539	G	A	G152449539A	SYNE1	NM_182961.4(SYNE1):c.3498C>T:p.Ala1166=	coding	Benign/Likely_benign
6	152449658	A	T	A152449658T	SYNE1	NM_182961.4(SYNE1):c.3396-17T>A	noncoding	Benign/Likely_benign
6	152450832	A	G	A152450832G	SYNE1	NM_182961.4(SYNE1):c.3188T>C:p.Val1063Ala	coding	Benign/Likely_benign
6	152451103	G	A	G152451103A	SYNE1	NM_182961.4(SYNE1):c.3130C>T:p.Arg1044Ter	coding	Pathogenic
6	152451359	T	C	T152451359C	SYNE1	NM_182961.4(SYNE1):c.3028-154A>G	noncoding	Benign
6	152453569	G	A	G152453569A	SYNE1	NM_182961.4(SYNE1):c.3027+17C>T	noncoding	Benign/Likely_benign
6	152453621	G	A	G152453621A	SYNE1	NM_182961.4(SYNE1):c.2992C>T:p.Gln998Ter	coding	Pathogenic
6	152465766	T	C	T152465766C	SYNE1	NM_182961.4(SYNE1):c.1729+216A>G	noncoding	Benign
6	152465792	C	G	C152465792G	SYNE1	NM_182961.4(SYNE1):c.1729+190G>C	noncoding	Benign
6	152465828	C	T	C152465828T	SYNE1	NM_182961.4(SYNE1):c.1729+154G>A	noncoding	Benign
6	152482924	A	G	A152482924G	SYNE1	NM_182961.4(SYNE1):c.1350+161T>C	noncoding	Benign
6	152505273	G	A	G152505273A	SYNE1	NM_182961.4(SYNE1):c.706C>T:p.Arg236Ter	coding	Pathogenic
6	152505318	G	A	G152505318A	SYNE1	NM_182961.4(SYNE1):c.661C>T:p.Arg221Ter	coding	Pathogenic
6	152510175	C	T	C152510175T	SYNE1	NM_182961.4(SYNE1):c.581+18G>A	noncoding	Benign/Likely_benign
6	152511061	G	A	G152511061A	SYNE1	NM_182961.4(SYNE1):c.352C>T:p.Arg118Ter	coding	Pathogenic
6	152511379	A	G	A152511379G	SYNE1	NM_182961.4(SYNE1):c.310-276T>C	noncoding	Benign
6	152540178	G	A	G152540178A	SYNE1	NM_182961.4(SYNE1):c.68-157C>T	noncoding	Benign
6	152628264	C	A	C152628264A	SYNE1	NM_182961.4(SYNE1):c.67+1G>T	noncoding	Pathogenic
6	152628264	C	T	C152628264T	SYNE1	NM_182961.4(SYNE1):c.67+1G>A	noncoding	Pathogenic
6	152637326	G	A	G152637326A	SYNE1	NM_182961.4(SYNE1):c.-529C>T	noncoding	Benign
6	154166286	C	T	C154166286T	OPRM1	NM_001130700.2(IPCEF1):c.1104+1634G>A	noncoding	Benign
6	156777879	G	A	G156777879A	ARID1B	NM_001374828.1(ARID1B):c.199G>A:p.Gly67Ser	noncoding	Benign
6	156777890	T	G	T156777890G	ARID1B	NM_001374828.1(ARID1B):c.210T>G:p.Ser70Arg	noncoding	Benign
6	156777954	G	A	G156777954A	ARID1B	NM_001374828.1(ARID1B):c.274G>A:p.Ala92Thr	coding	Benign
6	156778194	C	T	C156778194T	ARID1B	NM_001374828.1(ARID1B):c.514C>T:p.His172Tyr	coding	Benign
6	156778215	C	A	C156778215A	ARID1B	NM_001374828.1(ARID1B):c.535C>A:p.His179Asn	coding	Benign
6	156778394	G	A	G156778394A	ARID1B	NM_001374828.1(ARID1B):c.714G>A:p.Glu238=	coding	Benign
6	156778532	G	A	G156778532A	ARID1B	NM_001374828.1(ARID1B):c.852G>A:p.Glu284=	coding	Benign/Likely_benign
6	156778634	C	T	C156778634T	ARID1B	NM_001374828.1(ARID1B):c.954C>T:p.Gly318=	coding	Benign/Likely_benign
6	156778643	C	T	C156778643T	ARID1B	NM_001374828.1(ARID1B):c.963C>T:p.Ala321=	coding	Benign/Likely_benign
6	156778660	C	G	C156778660G	ARID1B	NM_001374828.1(ARID1B):c.980C>G:p.Pro327Arg	coding	Benign
6	156778874	A	C	A156778874C	ARID1B	NM_001374828.1(ARID1B):c.1194A>C:p.Gly398=	coding	Benign/Likely_benign
6	156778964	G	A	G156778964A	ARID1B	NM_001374828.1(ARID1B):c.1284G>A:p.Ala428=	coding	Benign/Likely_benign
6	156778999	G	C	G156778999C	ARID1B	NM_001374828.1(ARID1B):c.1319G>C:p.Gly440Ala	coding	Benign
6	156779198	C	T	C156779198T	ARID1B	NM_001374828.1(ARID1B):c.1518C>T:p.Leu506=	coding	Benign/Likely_benign
6	156779240	C	G	C156779240G	ARID1B	NM_001374828.1(ARID1B):c.1560C>G:p.Tyr520Ter	coding	Pathogenic
6	156779451	C	T	C156779451T	ARID1B	NM_001374828.1(ARID1B):c.1771C>T:p.Pro591Ser	coding	Benign/Likely_benign
6	156779477	C	T	C156779477T	ARID1B	NM_001374828.1(ARID1B):c.1791+6C>T	noncoding	Benign
6	156779490	G	C	G156779490C	ARID1B	NM_001374828.1(ARID1B):c.1791+19G>C	noncoding	Benign/Likely_benign
6	156779515	G	A	G156779515A	ARID1B	NM_001374828.1(ARID1B):c.1791+44G>A	noncoding	Benign
6	156829011	G	A	G156829011A	ARID1B	NM_001374828.1(ARID1B):c.1792-216G>A	noncoding	Benign
6	156829096	A	G	A156829096G	ARID1B	NM_001374828.1(ARID1B):c.1792-131A>G	noncoding	Benign
6	156829316	G	A	G156829316A	ARID1B	NM_001374828.1(ARID1B):c.1881G>A:p.Pro627=	coding	Benign/Likely_benign
6	156829377	C	A	C156829377A	ARID1B	NM_001374828.1(ARID1B):c.1942C>A:p.Arg648=	coding	Benign
6	156829386	G	A	G156829386A	ARID1B	NM_001374828.1(ARID1B):c.1951G>A:p.Gly651Arg	coding	Benign
6	156829449	T	C	T156829449C	ARID1B	NM_001374828.1(ARID1B):c.1986+28T>C	noncoding	Benign
6	156871329	G	A	G156871329A	ARID1B	NM_001374828.1(ARID1B):c.1987-30047G>A	noncoding	Benign
6	156871870	G	A	G156871870A	ARID1B	NM_001374828.1(ARID1B):c.1987-29506G>A	noncoding	Benign
6	156871871	C	T	C156871871T	ARID1B	NM_001374828.1(ARID1B):c.1987-29505C>T	noncoding	Benign
6	156901135	A	T	A156901135T	ARID1B	NM_001374828.1(ARID1B):c.1987-241A>T	noncoding	Benign
6	156901391	G	T	G156901391T	ARID1B	NM_001374828.1(ARID1B):c.2002G>T:p.Gly668Ter	coding	Pathogenic
6	156901475	C	T	C156901475T	ARID1B	NM_001374828.1(ARID1B):c.2086C>T:p.Gln696Ter	coding	Pathogenic
6	156901481	C	T	C156901481T	ARID1B	NM_001374828.1(ARID1B):c.2092C>T:p.Gln698Ter	coding	Pathogenic
6	156901579	C	T	C156901579T	ARID1B	NM_001374828.1(ARID1B):c.2136+54C>T	noncoding	Benign
6	156901671	T	G	T156901671G	ARID1B	NM_001374828.1(ARID1B):c.2136+146T>G	noncoding	Benign
6	156971028	T	C	T156971028C	ARID1B	NM_001374828.1(ARID1B):c.2247+35452T>C	noncoding	Benign
6	156971112	G	C	G156971112C	ARID1B	NM_001374828.1(ARID1B):c.2247+35536G>C	noncoding	Benign
6	157084361	G	T	G157084361T	ARID1B	NM_001374828.1(ARID1B):c.2248-301G>T	noncoding	Benign
6	157084362	C	T	C157084362T	ARID1B	NM_001374828.1(ARID1B):c.2248-300C>T	noncoding	Benign
6	157084379	A	T	A157084379T	ARID1B	NM_001374828.1(ARID1B):c.2248-283A>T	noncoding	Benign
6	157084627	G	A	G157084627A	ARID1B	NM_001374828.1(ARID1B):c.2248-35G>A	noncoding	Benign
6	157084660	A	G	A157084660G	ARID1B	NM_001374828.1(ARID1B):c.2248-2A>G	noncoding	Pathogenic
6	157084700	G	A	G157084700A	ARID1B	NM_001374828.1(ARID1B):c.2286G>A:p.Thr762=	coding	Benign/Likely_benign
6	157110742	T	G	T157110742G	ARID1B	NM_001374828.1(ARID1B):c.2581+181T>G	noncoding	Benign
6	157132912	T	C	T157132912C	ARID1B	NM_001374828.1(ARID1B):c.2582-116T>C	noncoding	Benign
6	157132978	G	A	G157132978A	ARID1B	NM_001374828.1(ARID1B):c.2582-50G>A	noncoding	Benign
6	157133054	C	G	C157133054G	ARID1B	NM_001374828.1(ARID1B):c.2608C>G:p.Pro870Ala	coding	Benign/Likely_benign
6	157133100	C	T	C157133100T	ARID1B	NM_001374828.1(ARID1B):c.2654C>T:p.Ser885Leu	coding	Benign/Likely_benign
6	157148624	G	T	G157148624T	ARID1B	NM_001374828.1(ARID1B):c.2762G>T:p.Gly921Val	coding	Pathogenic
6	157148635	A	T	A157148635T	ARID1B	NM_001374828.1(ARID1B):c.2773A>T:p.Arg925Ter	coding	Pathogenic
6	157148677	G	A	G157148677A	ARID1B	NM_001374828.1(ARID1B):c.2815G>A:p.Gly939Ser	coding	Benign/Likely_benign
6	157148713	C	T	C157148713T	ARID1B	NM_001374828.1(ARID1B):c.2851C>T:p.Gln951Ter	coding	Pathogenic
6	157148737	C	T	C157148737T	ARID1B	NM_001374828.1(ARID1B):c.2875C>T:p.Gln959Ter	coding	Pathogenic
6	157148934	G	C	G157148934C	ARID1B	NM_001374828.1(ARID1B):c.3072G>C:p.Ala1024=	coding	Benign/Likely_benign
6	157148976	G	A	G157148976A	ARID1B	NM_001374828.1(ARID1B):c.3089+25G>A	noncoding	Benign
6	157166818	A	G	A157166818G	ARID1B	NM_001374828.1(ARID1B):c.3090-222A>G	noncoding	Benign
6	157167164	G	A	G157167164A	ARID1B	NM_001374828.1(ARID1B):c.3214G>A:p.Ala1072Thr	coding	Benign/Likely_benign
6	157167223	C	T	C157167223T	ARID1B	NM_001374828.1(ARID1B):c.3235+38C>T	noncoding	Benign
6	157174100	C	T	C157174100T	ARID1B	NM_001374828.1(ARID1B):c.3328C>T:p.Pro1110Ser	coding	Benign
6	157174102	C	T	C157174102T	ARID1B	NM_001374828.1(ARID1B):c.3330C>T:p.Pro1110=	coding	Benign/Likely_benign
6	157174129	G	A	G157174129A	ARID1B	NM_001374828.1(ARID1B):c.3345+12G>A	noncoding	Benign/Likely_benign
6	157174138	C	T	C157174138T	ARID1B	NM_001374828.1(ARID1B):c.3345+21C>T	noncoding	Benign
6	157180967	A	G	A157180967G	ARID1B	NM_001374828.1(ARID1B):c.3505-2A>G	noncoding	Pathogenic
6	157180971	G	A	G157180971A	ARID1B	NM_001374828.1(ARID1B):c.3507G>A:p.Lys1169=	coding	Benign/Likely_benign
6	157181049	G	A	G157181049A	ARID1B	NM_001374828.1(ARID1B):c.3585G>A:p.Trp1195Ter	coding	Pathogenic
6	157181145	C	T	C157181145T	ARID1B	NM_001374828.1(ARID1B):c.3681C>T:p.Tyr1227=	coding	Benign/Likely_benign
6	157181179	G	A	G157181179A	ARID1B	NM_001374828.1(ARID1B):c.3714+1G>A	coding	Pathogenic
6	157181189	G	A	G157181189A	ARID1B	NM_001374828.1(ARID1B):c.3714+11G>A	noncoding	Benign/Likely_benign
6	157184219	G	A	G157184219A	ARID1B	NM_001374828.1(ARID1B):c.3715-12G>A	noncoding	Benign/Likely_benign
6	157184700	G	A	G157184700A	ARID1B	NM_001374828.1(ARID1B):c.3919+265G>A	noncoding	Benign
6	157189677	C	T	C157189677T	ARID1B	NM_001374828.1(ARID1B):c.3955C>T:p.Gln1319Ter	coding	Pathogenic
6	157189685	T	C	T157189685C	ARID1B	NM_001374828.1(ARID1B):c.3963T>C:p.Thr1321=	coding	Benign
6	157190129	C	T	C157190129T	ARID1B	NM_001374828.1(ARID1B):c.4150C>T:p.Gln1384Ter	coding	Pathogenic
6	157196187	T	C	T157196187C	ARID1B	NM_001374828.1(ARID1B):c.4254T>C:p.Phe1418=	coding	Benign/Likely_benign
6	157196192	C	T	C157196192T	ARID1B	NM_001374828.1(ARID1B):c.4259C>T:p.Thr1420Met	coding	Benign
6	157196203	A	G	A157196203G	ARID1B	NM_001374828.1(ARID1B):c.4270A>G:p.Met1424Val	coding	Benign
6	157196303	G	A	G157196303A	ARID1B	NM_001374828.1(ARID1B):c.4370G>A:p.Ser1457Asn	coding	Benign/Likely_benign
6	157196324	T	A	T157196324A	ARID1B	NM_001374828.1(ARID1B):c.4382+9T>A	noncoding	Benign
6	157196593	C	T	C157196593T	ARID1B	NM_001374828.1(ARID1B):c.4382+278C>T	noncoding	Benign
6	157198698	A	G	A157198698G	ARID1B	NM_001374828.1(ARID1B):c.4383-113A>G	noncoding	Benign
6	157198793	T	A	T157198793A	ARID1B	NM_001374828.1(ARID1B):c.4383-18T>A	noncoding	Benign
6	157198860	C	T	C157198860T	ARID1B	NM_001374828.1(ARID1B):c.4432C>T:p.Gln1478Ter	coding	Pathogenic
6	157198881	C	T	C157198881T	ARID1B	NM_001374828.1(ARID1B):c.4453C>T:p.Gln1485Ter	coding	Pathogenic
6	157198926	G	A	G157198926A	ARID1B	NM_001374828.1(ARID1B):c.4479+19G>A	noncoding	Benign/Likely_benign
6	157200417	C	T	C157200417T	ARID1B	NM_001374828.1(ARID1B):c.4480-288C>T	noncoding	Benign
6	157200747	A	T	A157200747T	ARID1B	NM_001374828.1(ARID1B):c.4522A>T:p.Lys1508Ter	coding	Pathogenic
6	157200777	C	T	C157200777T	ARID1B	NM_001374828.1(ARID1B):c.4552C>T:p.Gln1518Ter	coding	Pathogenic
6	157200899	G	A	G157200899A	ARID1B	NM_001374828.1(ARID1B):c.4674G>A:p.Pro1558=	coding	Benign/Likely_benign
6	157200939	G	A	G157200939A	ARID1B	NM_001374828.1(ARID1B):c.4714G>A:p.Gly1572Ser	coding	Benign/Likely_benign
6	157200941	C	T	C157200941T	ARID1B	NM_001374828.1(ARID1B):c.4716C>T:p.Gly1572=	coding	Benign/Likely_benign
6	157200946	C	T	C157200946T	ARID1B	NM_001374828.1(ARID1B):c.4721C>T:p.Pro1574Leu	coding	Benign/Likely_benign
6	157200956	G	A	G157200956A	ARID1B	NM_001374828.1(ARID1B):c.4731G>A:p.Ser1577=	coding	Benign/Likely_benign
6	157201034	C	T	C157201034T	ARID1B	NM_001374828.1(ARID1B):c.4809C>T:p.Gly1603=	coding	Benign/Likely_benign
6	157201056	C	T	C157201056T	ARID1B	NM_001374828.1(ARID1B):c.4831C>T:p.Pro1611Ser	coding	Benign/Likely_benign
6	157201100	C	T	C157201100T	ARID1B	NM_001374828.1(ARID1B):c.4875C>T:p.Pro1625_Asp1626=	coding	Benign
6	157201146	C	T	C157201146T	ARID1B	NM_001374828.1(ARID1B):c.4921C>T:p.Gln1641Ter	coding	Pathogenic
6	157201214	C	T	C157201214T	ARID1B	NM_001374828.1(ARID1B):c.4989C>T:p.Tyr1663=	coding	Benign
6	157201443	C	T	C157201443T	ARID1B	NM_001374828.1(ARID1B):c.5218C>T:p.Gln1740Ter	coding	Pathogenic
6	157201487	C	T	C157201487T	ARID1B	NM_001374828.1(ARID1B):c.5262C>T:p.Ile1754_Val1755=	coding	Benign
6	157201489	G	T	G157201489T	ARID1B	NM_001374828.1(ARID1B):c.5263+1G>T	coding	Pathogenic
6	157201623	T	G	T157201623G	ARID1B	NM_001374828.1(ARID1B):c.5263+135T>G	noncoding	Benign
6	157203986	A	G	A157203986G	ARID1B	NM_001374828.1(ARID1B):c.5384A>G:p.Asn1795Ser	coding	Benign/Likely_benign
6	157204043	A	G	A157204043G	ARID1B	NM_001374828.1(ARID1B):c.5394+47A>G	noncoding	Benign
6	157206152	C	T	C157206152T	ARID1B	NM_001374828.1(ARID1B):c.5395-15C>T	noncoding	Benign
6	157206240	A	G	A157206240G	ARID1B	NM_001374828.1(ARID1B):c.5468A>G:p.Glu1823Gly	coding	Benign/Likely_benign
6	157206412	C	T	C157206412T	ARID1B	NM_001374828.1(ARID1B):c.5640C>T:p.Ser1880=	coding	Benign
6	157206424	C	G	C157206424G	ARID1B	NM_001374828.1(ARID1B):c.5652C>G:p.Ser1884Arg	coding	Benign
6	157206599	C	T	C157206599T	ARID1B	NM_001374828.1(ARID1B):c.5827C>T:p.Gln1943Ter	coding	Pathogenic
6	157207008	C	G	C157207008G	ARID1B	NM_001374828.1(ARID1B):c.6236C>G:p.Ser2079Ter	coding	Pathogenic
6	157207144	G	A	G157207144A	ARID1B	NM_001374828.1(ARID1B):c.6372G>A:p.Glu2124_Asp2125=	coding	Benign
6	157207182	G	A	G157207182A	ARID1B	NM_001374828.1(ARID1B):c.6410G>A:p.Trp2137Ter	coding	Pathogenic
6	157207485	T	G	T157207485G	ARID1B	NM_001374828.1(ARID1B):c.6713T>G:p.Leu2238Ter	coding	Pathogenic
6	157207549	G	A	G157207549A	ARID1B	NM_001374828.1(ARID1B):c.6777G>A:p.Ser2259=	coding	Benign
6	157207769	G	T	G157207769T	ARID1B	NM_001374828.1(ARID1B):c.6997G>T:p.Glu2333Ter	coding	Pathogenic
6	157207824	C	G	C157207824G	ARID1B	NM_001374828.1(ARID1B):c.7052C>G:p.Ser2351Ter	coding	Pathogenic
6	158111155	A	G	A158111155G	SERAC1	NM_032861.4(SERAC1):c.*211T>C	noncoding	Benign
6	158111398	G	A	G158111398A	SERAC1	NM_032861.4(SERAC1):c.1933C>T:p.Arg645Cys	coding	Benign/Likely_benign
6	158119012	G	T	G158119012T	SERAC1	NM_032861.4(SERAC1):c.1308+17C>A	noncoding	Benign
6	158120432	G	A	G158120432A	SERAC1	NM_032861.4(SERAC1):c.1159C>T:p.Arg387Ter	coding	Pathogenic/Likely_pathogenic
6	158128124	A	G	A158128124G	SERAC1	NM_032861.4(SERAC1):c.999T>C:p.Ser333=	coding	Benign/Likely_benign
6	158143169	C	A	C158143169A	SERAC1	NM_032861.4(SERAC1):c.625G>T:p.Glu209Ter	coding	Pathogenic
6	158143372	T	C	T158143372C	SERAC1	NM_032861.4(SERAC1):c.610-188A>G	noncoding	Benign
6	158143386	T	C	T158143386C	SERAC1	NM_032861.4(SERAC1):c.610-202A>G	noncoding	Benign
6	158146763	G	A	G158146763A	SERAC1	NM_032861.4(SERAC1):c.487+19C>T	noncoding	Benign
6	158146997	C	T	C158146997T	SERAC1	NM_032861.4(SERAC1):c.356-84G>A	noncoding	Benign
6	158147104	C	T	C158147104T	SERAC1	NM_032861.4(SERAC1):c.356-191G>A	noncoding	Benign
6	158148965	T	C	T158148965C	SERAC1	NM_032861.4(SERAC1):c.266-11A>G	noncoding	Benign/Likely_benign
6	158150306	T	C	T158150306C	SERAC1	NM_032861.4(SERAC1):c.265+147A>G	noncoding	Benign
6	158150746	T	C	T158150746C	SERAC1	NM_032861.4(SERAC1):c.129-157A>G	noncoding	Benign
6	158155157	A	G	A158155157G	SERAC1	NM_032861.4(SERAC1):c.128+158T>C	noncoding	Benign
6	158158374	T	C	T158158374C	SERAC1	NM_032861.4(SERAC1):c.-1-10A>G	noncoding	Benign
6	158168007	G	T	G158168007T	SERAC1	NM_032861.4(SERAC1):c.-2+133C>A	noncoding	Benign
6	158168190	G	T	G158168190T	SERAC1	NM_032861.4(SERAC1):c.-52C>A	noncoding	Benign
6	158168341	G	A	G158168341A	SERAC1	Single_allele	noncoding	Benign
6	158170256	C	G	C158170256G	GTF2H5	NM_207118.3(GTF2H5):c.-34-214C>G	noncoding	Benign
6	158170446	A	G	A158170446G	GTF2H5	NM_207118.3(GTF2H5):c.-34-24A>G	noncoding	Benign
6	158170587	T	G	T158170587G	GTF2H5	NM_207118.3(GTF2H5):c.35+49T>G	noncoding	Benign
6	158977601	T	C	T158977601C	RSPH3	NM_031924.8(RSPH3):c.1194A>G:p.Glu398=	coding	Benign
6	158977668	C	T	C158977668T	RSPH3	NM_031924.8(RSPH3):c.1127G>A:p.Gly376Asp	coding	Benign
6	158977732	G	A	G158977732A	RSPH3	NM_031924.8(RSPH3):c.1063C>T:p.Leu355=	coding	Benign
6	158977955	A	G	A158977955G	RSPH3	NM_031924.8(RSPH3):c.947-107T>C	noncoding	Benign
6	158978165	A	G	A158978165G	RSPH3	NM_031924.8(RSPH3):c.946+95T>C	noncoding	Benign
6	158978316	A	G	A158978316G	RSPH3	NM_031924.8(RSPH3):c.890T>C:p.Met297Thr	coding	Benign
6	158980473	G	A	G158980473A	RSPH3	NM_031924.8(RSPH3):c.859+301C>T	noncoding	Benign
6	158982906	C	T	C158982906T	RSPH3	NM_031924.8(RSPH3):c.493-218G>A	noncoding	Benign
6	158983830	C	T	C158983830T	RSPH3	NM_031924.8(RSPH3):c.347-23G>A	noncoding	Benign
6	158983885	G	C	G158983885C	RSPH3	NM_031924.8(RSPH3):c.347-78C>G	noncoding	Benign
6	158984127	C	T	C158984127T	RSPH3	NM_031924.8(RSPH3):c.347-320G>A	noncoding	Benign
6	158986176	G	T	G158986176T	RSPH3	NM_031924.8(RSPH3):c.346+104C>A	noncoding	Benign
6	158986414	C	T	C158986414T	RSPH3	NM_031924.8(RSPH3):c.212G>A:p.Arg71Gln	coding	Benign
6	158986434	G	A	G158986434A	RSPH3	NM_031924.8(RSPH3):c.205-13C>T	noncoding	Benign
6	158993576	C	T	C158993576T	RSPH3	NM_031924.8(RSPH3):c.204+263G>A	noncoding	Benign
6	158993655	G	C	G158993655C	RSPH3	NM_031924.8(RSPH3):c.204+184C>G	noncoding	Benign
6	158993779	C	T	C158993779T	RSPH3	NM_031924.8(RSPH3):c.204+60G>A	noncoding	Benign
6	158993811	G	A	G158993811A	RSPH3	NM_031924.8(RSPH3):c.204+28C>T	noncoding	Benign
6	158993867	T	C	T158993867C	RSPH3	NM_031924.8(RSPH3):c.176A>G:p.Asn59Ser	coding	Benign
6	158999421	G	A	G158999421A	RSPH3	NM_031924.8(RSPH3):c.116+14C>T	noncoding	Benign
6	158999542	T	C	T158999542C	RSPH3	NM_031924.8(RSPH3):c.9A>G:p.Ser3=	coding	Benign
6	158999645	C	T	C158999645T	RSPH3	NM_031924.8(RSPH3):c.-95G>A	coding	Pathogenic
6	158999967	T	A	T158999967A	RSPH3	NM_031924.8(RSPH3):c.-417A>T	coding	Pathogenic
6	159801150	C	G	C159801150G	PNLDC1	NM_001271862.2(PNLDC1):c.172C>G:p.Arg58Gly	coding	Pathogenic
6	159803999	C	T	C159803999T	PNLDC1	NM_001271862.2(PNLDC1):c.283C>T:p.Pro95Ser	coding	Pathogenic
6	159809013	A	T	A159809013T	PNLDC1	NM_001271862.2(PNLDC1):c.640-2A>T	noncoding	Pathogenic
6	159810051	T	C	T159810051C	PNLDC1	NM_001271862.2(PNLDC1):c.809T>C:p.Met270Thr	coding	Pathogenic
6	159819075	C	T	C159819075T	PNLDC1	NM_001271862.2(PNLDC1):c.1387C>T:p.Arg463Ter	coding	Pathogenic
6	160009133	T	A	T160009133A	IGF2R	NM_000876.4(IGF2R):c.413T>A:p.Leu138Gln	coding	Pathogenic
6	160045882	G	T	G160045882T	IGF2R	NM_000876.4(IGF2R):c.1903G>T:p.Gly635Trp	coding	Pathogenic
6	160061920	C	T	C160061920T	IGF2R	NM_000876.4(IGF2R):c.3574C>T:p.Gln1192Ter	coding	Pathogenic
6	160139813	A	G	A160139813G	SLC22A1	NM_003057.3(SLC22A1):c.1222A>G:p.Met408Val	coding	Benign
6	160348391	G	A	G160348391A	SLC22A3	NM_021977.4(SLC22A3):c.-29G>A	noncoding	Benign
6	160437156	G	A	G160437156A	SLC22A3	NM_021977.4(SLC22A3):c.1233G>A:p.Ala411=	coding	Benign
6	160531806	G	A	G160531806A	LPA	NM_005577.4(LPA):c.6046C>T:p.Arg2016Cys	coding	Benign
6	160547936	G	A	G160547936A	LPA	NM_005577.4(LPA):c.5157C>T:p.Asp1719=	coding	Benign/Likely_benign
6	160548597	A	G	A160548597G	LPA	NM_005577.4(LPA):c.5036T>C:p.Met1679Thr	coding	Benign
6	160589086	A	G	A160589086G	LPA	NM_005577.4(LPA):c.3947+467T>C	noncoding	Benign
6	160701899	G	A	G160701899A	PLG	Single_allele	noncoding	Benign
6	160702126	G	T	G160702126T	PLG	Single_allele	noncoding	Benign
6	160702153	T	C	T160702153C	PLG	Single_allele	noncoding	Benign
6	160702270	G	A	G160702270A	PLG	NM_000301.5(PLG):c.-35G>A	noncoding	Benign
6	160702381	G	T	G160702381T	PLG	NM_000301.5(PLG):c.49+28G>T	noncoding	Benign
6	160702419	T	C	T160702419C	PLG	NM_000301.5(PLG):c.49+66T>C	noncoding	Benign
6	160707585	G	A	G160707585A	PLG	NM_000301.5(PLG):c.186-115G>A	noncoding	Benign
6	160707855	A	G	A160707855G	PLG	NM_000301.5(PLG):c.292+49A>G	noncoding	Benign
6	160707890	A	G	A160707890G	PLG	NM_000301.5(PLG):c.292+84A>G	noncoding	Benign
6	160707913	T	C	T160707913C	PLG	NM_000301.5(PLG):c.292+107T>C	noncoding	Benign
6	160707915	G	A	G160707915A	PLG	NM_000301.5(PLG):c.292+109G>A	noncoding	Benign
6	160707935	G	A	G160707935A	PLG	NM_000301.5(PLG):c.292+129G>A	noncoding	Benign
6	160707981	G	A	G160707981A	PLG	NM_000301.5(PLG):c.292+175G>A	noncoding	Benign
6	160711114	C	T	C160711114T	PLG	NM_000301.5(PLG):c.330C>T:p.Asn110=	coding	Benign
6	160712653	A	G	A160712653G	PLG	NM_000301.5(PLG):c.408-333A>G	noncoding	Benign
6	160713241	C	G	C160713241G	PLG	NM_000301.5(PLG):c.547+116C>G	noncoding	Benign
6	160714676	A	G	A160714676G	PLG	NM_000301.5(PLG):c.548-118A>G	noncoding	Benign
6	160715026	T	A	T160715026A	PLG	NM_000301.5(PLG):c.668+112T>A	noncoding	Benign
6	160716486	T	C	T160716486C	PLG	NM_000301.5(PLG):c.669-159T>C	noncoding	Benign
6	160716491	T	A	T160716491A	PLG	NM_000301.5(PLG):c.669-154T>A	noncoding	Benign
6	160716631	T	G	T160716631G	PLG	NM_000301.5(PLG):c.669-14T>G	noncoding	Benign
6	160716747	T	C	T160716747C	PLG	NM_000301.5(PLG):c.771T>C:p.Cys257=	coding	Benign
6	160716958	G	A	G160716958A	PLG	NM_000301.5(PLG):c.787+195G>A	noncoding	Benign
6	160718448	C	T	C160718448T	PLG	NM_000301.5(PLG):c.942C>T:p.Phe314=	coding	Benign
6	160718470	G	A	G160718470A	PLG	NM_000301.5(PLG):c.950+14G>A	noncoding	Benign
6	160718825	A	G	A160718825G	PLG	NM_000301.5(PLG):c.1083A>G:p.Gln361=	coding	Benign
6	160722158	T	C	T160722158C	PLG	NM_000301.5(PLG):c.1097-250T>C	noncoding	Benign
6	160722201	A	C	A160722201C	PLG	NM_000301.5(PLG):c.1097-207A>C	noncoding	Benign
6	160722344	A	G	A160722344G	PLG	NM_000301.5(PLG):c.1097-64A>G	noncoding	Benign
6	160722576	T	C	T160722576C	PLG	NM_000301.5(PLG):c.1256+9T>C	noncoding	Benign
6	160722602	A	G	A160722602G	PLG	NM_000301.5(PLG):c.1256+35A>G	noncoding	Benign
6	160730936	T	C	T160730936C	PLG	NM_000301.5(PLG):c.1257-115T>C	noncoding	Benign
6	160731262	A	G	A160731262G	PLG	NM_000301.5(PLG):c.1438+30A>G	noncoding	Benign
6	160731417	G	A	G160731417A	PLG	NM_000301.5(PLG):c.1438+185G>A	noncoding	Benign
6	160732048	A	C	A160732048C	PLG	NM_000301.5(PLG):c.1587+155A>C	noncoding	Benign
6	160733846	G	A	G160733846A	PLG	NM_000301.5(PLG):c.1588-149G>A	noncoding	Benign
6	160738334	T	G	T160738334G	PLG	NM_000301.5(PLG):c.1803-204T>G	noncoding	Benign
6	160738521	C	A	C160738521A	PLG	NM_000301.5(PLG):c.1803-17C>A	noncoding	Benign
6	160738627	C	A	C160738627A	PLG	NM_000301.5(PLG):c.1877+15C>A	noncoding	Benign
6	160739051	G	A	G160739051A	PLG	NM_000301.5(PLG):c.1878-17G>A	noncoding	Benign
6	160739473	T	C	T160739473C	PLG	NM_000301.5(PLG):c.2018+265T>C	noncoding	Benign
6	160739509	G	A	G160739509A	PLG	NM_000301.5(PLG):c.2018+301G>A	noncoding	Benign
6	160741374	T	C	T160741374C	PLG	NM_000301.5(PLG):c.2082T>C:p.Ala694=	coding	Benign
6	160751910	C	G	C160751910G	PLG	NM_000301.5(PLG):c.2126-205C>G	noncoding	Benign
6	160752060	C	G	C160752060G	PLG	NM_000301.5(PLG):c.2126-55C>G	noncoding	Benign
6	160752172	T	A	T160752172A	PLG	NM_000301.5(PLG):c.2183T>A:p.Val728Glu	coding	Pathogenic
6	160752914	T	G	T160752914G	PLG	NM_000301.5(PLG):c.2286T>G:p.Gly762=	coding	Benign
6	160753106	A	G	A160753106G	PLG	NM_000301.5(PLG):c.*45A>G	noncoding	Benign
6	161350005	T	C	T161350005C	PRKN	NM_004562.3(PRKN):c.*94A>G	noncoding	Benign/Likely_benign
6	161350163	C	T	C161350163T	PRKN	NM_004562.3(PRKN):c.1334G>A:p.Trp445Ter	coding	Pathogenic
6	161350329	T	C	T161350329C	PRKN	NM_004562.3(PRKN):c.1286-118A>G	noncoding	Benign
6	161350380	T	C	T161350380C	PRKN	NM_004562.3(PRKN):c.1286-169A>G	noncoding	Benign
6	161360370	G	A	G161360370A	PRKN	NM_004562.3(PRKN):c.1168-165C>T	noncoding	Benign
6	161386620	C	A	C161386620A	PRKN	NM_004562.3(PRKN):c.1167+174G>T	noncoding	Benign
6	161386632	G	C	G161386632C	PRKN	NM_004562.3(PRKN):c.1167+162C>G	noncoding	Benign
6	161387079	T	C	T161387079C	PRKN	NM_004562.3(PRKN):c.1084-202A>G	noncoding	Benign
6	161548681	T	G	T161548681G	PRKN	NM_004562.3(PRKN):c.1083+173A>C	noncoding	Benign
6	161548729	T	C	T161548729C	PRKN	NM_004562.3(PRKN):c.1083+125A>G	noncoding	Benign
6	161548836	G	A	G161548836A	PRKN	NM_004562.3(PRKN):c.1083+18C>T	noncoding	Benign
6	161549199	T	A	T161549199A	PRKN	NM_004562.3(PRKN):c.934-196A>T	noncoding	Benign
6	161569307	G	A	G161569307A	PRKN	NM_004562.3(PRKN):c.933+48C>T	noncoding	Benign
6	161569417	C	G	C161569417G	PRKN	NM_004562.3(PRKN):c.872-1G>C	coding	Pathogenic
6	161569451	C	T	C161569451T	PRKN	NM_004562.3(PRKN):c.872-35G>A	noncoding	Benign
6	161569484	G	C	G161569484C	PRKN	NM_004562.3(PRKN):c.872-68C>G	noncoding	Benign
6	161569597	C	T	C161569597T	PRKN	NM_004562.3(PRKN):c.872-181G>A	noncoding	Benign
6	161569646	C	T	C161569646T	PRKN	NM_004562.3(PRKN):c.872-230G>A	noncoding	Benign
6	161694890	T	A	T161694890A	PRKN	NM_004562.3(PRKN):c.871+90882A>T	noncoding	Benign
6	161716115	C	T	C161716115T	PRKN	NM_004562.3(PRKN):c.871+69657G>A	noncoding	Benign
6	161785966	G	A	G161785966A	PRKN	NM_004562.3(PRKN):c.735-58C>T	noncoding	Benign
6	161964357	A	C	A161964357C	PRKN	NM_004562.3(PRKN):c.734+8945T>G	noncoding	Benign
6	162053861	A	G	A162053861G	PRKN	NM_004562.3(PRKN):c.618+230T>C	noncoding	Benign
6	162054251	G	A	G162054251A	PRKN	NM_004562.3(PRKN):c.535-77C>T	noncoding	Benign
6	162054402	A	C	A162054402C	PRKN	NM_004562.3(PRKN):c.535-228T>G	noncoding	Benign
6	162201334	G	T	G162201334T	PRKN	NM_004562.3(PRKN):c.413-82C>A	noncoding	Benign
6	162201518	C	T	C162201518T	PRKN	NM_004562.3(PRKN):c.413-266G>A	noncoding	Benign
6	162262208	C	G	C162262208G	PRKN	NM_004562.3(PRKN):c.412+317G>C	noncoding	Benign
6	162262783	A	T	A162262783T	PRKN	NM_004562.3(PRKN):c.172-18T>A	noncoding	Benign/Likely_benign
6	162262784	A	T	A162262784T	PRKN	NM_004562.3(PRKN):c.172-19T>A	noncoding	Benign
6	162262844	C	T	C162262844T	PRKN	NM_004562.3(PRKN):c.172-79G>A	noncoding	Benign
6	162262976	A	C	A162262976C	PRKN	NM_004562.3(PRKN):c.172-211T>G	noncoding	Benign
6	162443062	G	A	G162443062A	PRKN	NM_004562.3(PRKN):c.171+248C>T	noncoding	Benign
6	162443285	A	G	A162443285G	PRKN	NM_004562.3(PRKN):c.171+25T>C	noncoding	Benign
6	162443408	G	A	G162443408A	PRKN	NM_004562.3(PRKN):c.73C>T:p.Gln25Ter	coding	Pathogenic
6	162447327	G	C	G162447327C	PRKN	NM_004562.3(PRKN):c.8-3854C>G	noncoding	Benign
6	162727992	T	C	T162727992C	PRKN	NM_001080379.2(PACRG):c.-244T>C	noncoding	Benign
6	162728023	A	C	A162728023C	PRKN	NM_001080379.2(PACRG):c.-213A>C	noncoding	Benign
6	163415344	C	T	C163415344T	QKI	NM_006775.3(QKI):c.142+9C>T	noncoding	Benign
6	165379381	C	A	C165379381A	PDE10A	NM_001385079.1(PDE10A):c.2611-15G>T	noncoding	Benign
6	165379383	A	T	A165379383T	PDE10A	NM_001385079.1(PDE10A):c.2611-17T>A	noncoding	Benign
6	165388284	G	A	G165388284A	PDE10A	NM_001385079.1(PDE10A):c.2610+14C>T	noncoding	Benign
6	165388301	G	A	G165388301A	PDE10A	NM_001385079.1(PDE10A):c.2607C>T:p.Leu869=	coding	Benign
6	165392633	A	G	A165392633G	PDE10A	NM_001385079.1(PDE10A):c.2454+13T>C	noncoding	Benign
6	165396433	C	T	C165396433T	PDE10A	NM_001385079.1(PDE10A):c.2103G>A:p.Glu701=	coding	Benign
6	165413706	A	G	A165413706G	PDE10A	NM_001385079.1(PDE10A):c.1890-19T>C	noncoding	Benign
6	165418626	T	A	T165418626A	PDE10A	NM_001385079.1(PDE10A):c.1796+9A>T	noncoding	Benign
6	165418739	C	T	C165418739T	PDE10A	NM_001385079.1(PDE10A):c.1692G>A:p.Ala564=	coding	Benign
6	165430365	G	C	G165430365C	PDE10A	NM_001385079.1(PDE10A):c.1543-20C>G	noncoding	Benign
6	165482336	T	C	T165482336C	PDE10A	NM_001385079.1(PDE10A):c.1002A>G:p.Ser334=	coding	Benign
6	165660734	G	A	G165660734A	PDE10A	NM_001385079.1(PDE10A):c.865+1213C>T	noncoding	Benign
6	166158447	C	T	C166158447T	TBXT	NM_001366285.2(TBXT):c.1179G>A:p.Ala393=	coding	Benign
6	166165782	C	T	C166165782T	TBXT	NM_001366285.2(TBXT):c.530G>A:p.Gly177Asp	coding	Benign
6	166166700	G	A	G166166700A	TBXT	NM_001366285.2(TBXT):c.363C>T:p.Ser121=	coding	Benign
6	166365191	T	G	T166365191G	MPC1	NM_016098.4(MPC1):c.*238A>C	noncoding	Benign
6	166365546	T	A	T166365546A	MPC1	NM_016098.4(MPC1):c.306-93A>T	noncoding	Benign
6	166366190	T	C	T166366190C	MPC1	NM_016098.4(MPC1):c.173-84A>G	noncoding	Benign
6	166366993	G	A	G166366993A	MPC1	NM_016098.4(MPC1):c.76-102C>T	coding	Benign
6	166367233	C	T	C166367233T	MPC1	NM_016098.4(MPC1):c.76-342G>A	noncoding	Benign
6	166370148	C	A	C166370148A	MPC1	NM_016098.4(MPC1):c.75+70G>T	noncoding	Benign
6	166382738	G	A	G166382738A	MPC1	NM_016098.4(MPC1):c.71+68C>T	noncoding	Benign
6	166382789	C	T	C166382789T	MPC1	NM_016098.4(MPC1):c.71+17G>A	noncoding	Benign
6	166382945	C	A	C166382945A	MPC1	Single_allele	noncoding	Benign
6	166383195	C	T	C166383195T	MPC1	Single_allele	noncoding	Benign
6	166929808	A	G	A166929808G	RNASET2	NM_003730.6(RNASET2):c.568-17T>C	noncoding	Benign
6	166929811	G	T	G166929811T	RNASET2	NM_003730.6(RNASET2):c.568-20C>A	noncoding	Benign
6	166938878	G	T	G166938878T	RNASET2	NM_003730.6(RNASET2):c.446+17C>A	noncoding	Benign
6	166943091	T	C	T166943091C	RNASET2	NM_003730.6(RNASET2):c.262-2A>G	noncoding	Pathogenic
6	166946665	T	C	T166946665C	RNASET2	NM_003730.6(RNASET2):c.261+17A>G	noncoding	Benign/Likely_benign
6	166946710	G	T	G166946710T	RNASET2	NM_003730.6(RNASET2):c.233C>A:p.Ser78Ter	coding	Pathogenic
6	166948645	A	T	A166948645T	RNASET2	NM_003730.6(RNASET2):c.148-20T>A	noncoding	Benign
6	166952468	G	A	G166952468A	RNASET2	NM_003730.6(RNASET2):c.147+20C>T	noncoding	Benign
6	166952476	A	G	A166952476G	RNASET2	NM_003730.6(RNASET2):c.147+12T>C	noncoding	Benign
6	168441267	C	T	C168441267T	SMOC2	NM_001166412.2(SMOC2):c.-104C>T	noncoding	Benign
6	168441334	A	G	A168441334G	SMOC2	NM_001166412.2(SMOC2):c.-37A>G	noncoding	Benign
6	168441433	T	G	T168441433G	SMOC2	NM_001166412.2(SMOC2):c.63T>G:p.Ala21=	coding	Benign
6	168509763	C	G	C168509763G	SMOC2	NM_001166412.2(SMOC2):c.85-152C>G	noncoding	Benign
6	168510340	T	A	T168510340A	SMOC2	NM_001166412.2(SMOC2):c.256+254T>A	noncoding	Benign
6	168526105	G	A	G168526105A	SMOC2	NM_001166412.2(SMOC2):c.257-241G>A	noncoding	Benign
6	168526533	G	A	G168526533A	SMOC2	NM_001166412.2(SMOC2):c.363+81G>A	noncoding	Benign
6	168526769	T	C	T168526769C	SMOC2	NM_001166412.2(SMOC2):c.363+317T>C	noncoding	Benign
6	168527545	G	A	G168527545A	SMOC2	NM_001166412.2(SMOC2):c.364-83G>A	noncoding	Benign
6	168527571	C	T	C168527571T	SMOC2	NM_001166412.2(SMOC2):c.364-57C>T	noncoding	Benign
6	168527839	C	T	C168527839T	SMOC2	NM_001166412.2(SMOC2):c.463+112C>T	noncoding	Benign
6	168546858	T	C	T168546858C	SMOC2	NM_001166412.2(SMOC2):c.512-261T>C	noncoding	Benign
6	168547276	G	C	G168547276C	SMOC2	NM_001166412.2(SMOC2):c.562+107G>C	noncoding	Benign
6	168547375	G	A	G168547375A	SMOC2	NM_001166412.2(SMOC2):c.562+206G>A	noncoding	Benign
6	168547406	C	G	C168547406G	SMOC2	NM_001166412.2(SMOC2):c.562+237C>G	noncoding	Benign
6	168547407	G	C	G168547407C	SMOC2	NM_001166412.2(SMOC2):c.562+238G>C	noncoding	Benign
6	168650471	G	A	G168650471A	SMOC2	NM_001166412.2(SMOC2):c.908-210G>A	noncoding	Benign
6	168650486	A	G	A168650486G	SMOC2	NM_001166412.2(SMOC2):c.908-195A>G	noncoding	Benign
6	168653367	C	T	C168653367T	SMOC2	NM_001166412.2(SMOC2):c.1285+139C>T	noncoding	Benign
6	168664253	T	C	T168664253C	SMOC2	NM_001166412.2(SMOC2):c.1323+142T>C	noncoding	Benign
6	169755235	A	T	A169755235T	ERMARD	NM_018341.3(ERMARD):c.176-48A>T	noncoding	Benign
6	169755538	G	A	G169755538A	ERMARD	NM_018341.3(ERMARD):c.315+116G>A	noncoding	Benign
6	169756587	T	C	T169756587C	ERMARD	NM_018341.3(ERMARD):c.418-132T>C	noncoding	Benign
6	169758772	A	G	A169758772G	ERMARD	NM_018341.3(ERMARD):c.508-196A>G	noncoding	Benign
6	169758927	G	A	G169758927A	ERMARD	NM_018341.3(ERMARD):c.508-41G>A	noncoding	Benign
6	169759163	A	G	A169759163G	ERMARD	NM_018341.3(ERMARD):c.605+98A>G	noncoding	Benign
6	169760337	A	G	A169760337G	ERMARD	NM_018341.3(ERMARD):c.743-305A>G	noncoding	Benign
6	169760494	A	G	A169760494G	ERMARD	NM_018341.3(ERMARD):c.743-148A>G	noncoding	Benign
6	169762207	T	G	T169762207G	ERMARD	NM_018341.3(ERMARD):c.858-222T>G	noncoding	Benign
6	169766336	G	A	G169766336A	ERMARD	NM_018341.3(ERMARD):c.961-302G>A	noncoding	Benign
6	169768346	C	G	C169768346G	ERMARD	NM_018341.3(ERMARD):c.1059+175C>G	noncoding	Benign
6	169768440	G	A	G169768440A	ERMARD	NM_018341.3(ERMARD):c.1059+269G>A	noncoding	Benign
6	169773181	G	A	G169773181A	ERMARD	NM_018341.3(ERMARD):c.1234-138G>A	noncoding	Benign
6	169776025	C	G	C169776025G	ERMARD	NM_018341.3(ERMARD):c.1480C>G:p.Arg494Gly	coding	Benign/Likely_benign
6	169776311	G	A	G169776311A	ERMARD	NM_018341.3(ERMARD):c.1521-144G>A	noncoding	Benign
6	169776349	G	A	G169776349A	ERMARD	NM_018341.3(ERMARD):c.1521-106G>A	coding	Benign
6	169776371	A	G	A169776371G	ERMARD	NM_018341.3(ERMARD):c.1521-84A>G	coding	Benign
6	169776751	C	T	C169776751T	ERMARD	NM_018341.3(ERMARD):c.1739+78C>T	noncoding	Benign
6	169778932	G	A	G169778932A	ERMARD	NM_018341.3(ERMARD):c.1740-250G>A	noncoding	Benign
6	169779334	G	A	G169779334A	ERMARD	NM_018341.3(ERMARD):c.1853+39G>A	noncoding	Benign
6	169779411	C	T	C169779411T	ERMARD	NM_018341.3(ERMARD):c.1853+116C>T	noncoding	Benign
6	169781084	C	T	C169781084T	ERMARD	NM_018341.3(ERMARD):c.1854-246C>T	noncoding	Benign
6	169781612	G	C	G169781612C	ERMARD	Single_allele	noncoding	Benign
6	170282680	G	A	G170282680A	DLL1	NM_005618.4(DLL1):c.*194C>T	noncoding	Benign
6	170282835	T	G	T170282835G	DLL1	NM_005618.4(DLL1):c.*39A>C	noncoding	Benign
6	170282921	A	G	A170282921G	DLL1	NM_005618.4(DLL1):c.2167-42T>C	noncoding	Benign
6	170282932	C	G	C170282932G	DLL1	NM_005618.4(DLL1):c.2167-53G>C	noncoding	Benign
6	170282969	G	A	G170282969A	DLL1	NM_005618.4(DLL1):c.2166+19C>T	noncoding	Benign
6	170283205	C	G	C170283205G	DLL1	NM_005618.4(DLL1):c.2048+26G>C	noncoding	Benign
6	170283220	G	A	G170283220A	DLL1	NM_005618.4(DLL1):c.2048+11C>T	noncoding	Benign
6	170283539	G	A	G170283539A	DLL1	NM_005618.4(DLL1):c.1740C>T:p.Ala580=	coding	Benign
6	170283632	G	T	G170283632T	DLL1	NM_005618.4(DLL1):c.1647C>A:p.Cys549Ter	coding	Pathogenic
6	170283857	C	T	C170283857T	DLL1	NM_005618.4(DLL1):c.1422G>A:p.Thr474=	coding	Benign
6	170283980	G	A	G170283980A	DLL1	NM_005618.4(DLL1):c.1299C>T:p.Ala433=	coding	Benign
6	170284030	C	T	C170284030T	DLL1	NM_005618.4(DLL1):c.1250-1G>A	coding	Pathogenic
6	170284642	T	C	T170284642C	DLL1	NM_005618.4(DLL1):c.1249+277A>G	noncoding	Benign
6	170284744	C	T	C170284744T	DLL1	NM_005618.4(DLL1):c.1249+175G>A	noncoding	Benign
6	170285731	T	C	T170285731C	DLL1	NM_005618.4(DLL1):c.732-32A>G	noncoding	Benign
6	170286342	G	C	G170286342C	DLL1	NM_005618.4(DLL1):c.671-44C>G	noncoding	Benign
6	170288188	C	T	C170288188T	DLL1	NM_005618.4(DLL1):c.670+51G>A	noncoding	Benign
6	170288217	C	T	C170288217T	DLL1	NM_005618.4(DLL1):c.670+22G>A	noncoding	Benign
6	170288270	G	A	G170288270A	DLL1	NM_005618.4(DLL1):c.639C>T:p.Asn213=	coding	Benign
6	170288296	C	T	C170288296T	DLL1	NM_005618.4(DLL1):c.613G>A:p.Gly205Arg	coding	Benign
6	170289264	C	T	C170289264T	DLL1	NM_005618.4(DLL1):c.351+248G>A	noncoding	Benign
6	170289695	G	T	G170289695T	DLL1	NM_005618.4(DLL1):c.168C>A:p.Cys56Ter	coding	Pathogenic
6	170289711	G	A	G170289711A	DLL1	NM_005618.4(DLL1):c.152C>T:p.Pro51Leu	coding	Benign
6	170289936	G	C	G170289936C	DLL1	NM_005618.4(DLL1):c.55-128C>G	noncoding	Benign
6	170290075	T	A	T170290075A	DLL1	NM_005618.4(DLL1):c.54+11A>T	noncoding	Benign
6	170290297	C	T	C170290297T	DLL1	NM_005618.4(DLL1):c.-158G>A	noncoding	Benign
6	170543727	A	G	A170543727G	PSMB1	NM_002793.4(PSMB1):c.307T>C:p.Tyr103His	coding	Pathogenic
6	170561952	A	G	A170561952G	TBP	NM_003194.5(TBP):c.216A>G:p.Gln72=	coding	Benign/Likely_benign
6	170562505	A	G	A170562505G	TBP	NM_003194.5(TBP):c.497+272A>G	noncoding	Benign
6	170569337	C	T	C170569337T	TBP	NM_003194.5(TBP):c.678-275C>T	noncoding	Benign
6	170569705	T	C	T170569705C	TBP	NM_003194.5(TBP):c.771T>C:p.Asn257=	coding	Benign
6	170572042	T	C	T170572042C	TBP	NM_003194.5(TBP):c.941-144T>C	noncoding	Benign
7	192800	G	A	G192800A	FAM20C	NM_020223.4(FAM20C):c.-400G>A	noncoding	Benign
7	193091	C	T	C193091T	FAM20C	NM_020223.4(FAM20C):c.-109C>T	noncoding	Benign
7	194081	C	T	C194081T	FAM20C	NM_020223.4(FAM20C):c.605+277C>T	noncoding	Benign
7	195501	A	G	A195501G	FAM20C	NM_020223.4(FAM20C):c.606-53A>G	noncoding	Benign
7	195656	C	A	C195656A	FAM20C	NM_020223.4(FAM20C):c.708C>A:p.Tyr236Ter	coding	Pathogenic
7	195751	A	T	A195751T	FAM20C	NM_020223.4(FAM20C):c.784+19A>T	noncoding	Benign
7	209235	A	G	A209235G	FAM20C	NM_020223.4(FAM20C):c.863+259A>G	noncoding	Benign
7	246132	T	C	T246132C	FAM20C	NM_020223.4(FAM20C):c.864-283T>C	noncoding	Benign
7	246148	A	C	A246148C	FAM20C	NM_020223.4(FAM20C):c.864-267A>C	noncoding	Benign
7	246228	T	G	T246228G	FAM20C	NM_020223.4(FAM20C):c.864-187T>G	noncoding	Benign
7	246566	T	C	T246566C	FAM20C	NM_020223.4(FAM20C):c.956+59T>C	noncoding	Benign
7	246568	A	G	A246568G	FAM20C	NM_020223.4(FAM20C):c.956+61A>G	noncoding	Benign
7	246668	G	C	G246668C	FAM20C	NM_020223.4(FAM20C):c.956+161G>C	noncoding	Benign
7	246772	C	T	C246772T	FAM20C	NM_020223.4(FAM20C):c.956+265C>T	noncoding	Benign
7	248136	T	C	T248136C	FAM20C	NM_020223.4(FAM20C):c.957-179T>C	noncoding	Benign
7	248203	G	C	G248203C	FAM20C	NM_020223.4(FAM20C):c.957-112G>C	noncoding	Benign
7	248208	G	C	G248208C	FAM20C	NM_020223.4(FAM20C):c.957-107G>C	noncoding	Benign
7	248442	C	T	C248442T	FAM20C	NM_020223.4(FAM20C):c.1072+12C>T	noncoding	Benign
7	248453	A	G	A248453G	FAM20C	NM_020223.4(FAM20C):c.1072+23A>G	noncoding	Benign
7	255562	A	C	A255562C	FAM20C	NM_020223.4(FAM20C):c.1073-287A>C	noncoding	Benign
7	255564	A	C	A255564C	FAM20C	NM_020223.4(FAM20C):c.1073-285A>C	noncoding	Benign
7	255658	C	A	C255658A	FAM20C	NM_020223.4(FAM20C):c.1073-191C>A	noncoding	Benign
7	255803	C	T	C255803T	FAM20C	NM_020223.4(FAM20C):c.1073-46C>T	noncoding	Benign
7	255870	G	A	G255870A	FAM20C	NM_020223.4(FAM20C):c.1094G>A:p.Gly365Asp	coding	Pathogenic
7	255901	C	T	C255901T	FAM20C	NM_020223.4(FAM20C):c.1125C>T:p.His375=	coding	Benign
7	256012	C	T	C256012T	FAM20C	NM_020223.4(FAM20C):c.1236C>T:p.His412=	coding	Benign/Likely_benign
7	256048	G	A	G256048A	FAM20C	NM_020223.4(FAM20C):c.1253+19G>A	noncoding	Benign
7	256049	G	A	G256049A	FAM20C	NM_020223.4(FAM20C):c.1253+20G>A	noncoding	Benign
7	256185	T	C	T256185C	FAM20C	NM_020223.4(FAM20C):c.1253+156T>C	noncoding	Benign
7	256306	C	T	C256306T	FAM20C	NM_020223.4(FAM20C):c.1253+277C>T	noncoding	Benign
7	256335	C	T	C256335T	FAM20C	NM_020223.4(FAM20C):c.1253+306C>T	noncoding	Benign
7	256377	T	G	T256377G	FAM20C	NM_020223.4(FAM20C):c.1254-277T>G	noncoding	Benign
7	256461	A	G	A256461G	FAM20C	NM_020223.4(FAM20C):c.1254-193A>G	noncoding	Benign
7	256509	A	C	A256509C	FAM20C	NM_020223.4(FAM20C):c.1254-145A>C	noncoding	Benign
7	256522	G	A	G256522A	FAM20C	NM_020223.4(FAM20C):c.1254-132G>A	noncoding	Benign
7	256527	A	G	A256527G	FAM20C	NM_020223.4(FAM20C):c.1254-127A>G	noncoding	Benign
7	256535	C	T	C256535T	FAM20C	NM_020223.4(FAM20C):c.1254-119C>T	noncoding	Benign
7	256536	G	A	G256536A	FAM20C	NM_020223.4(FAM20C):c.1254-118G>A	noncoding	Benign
7	256591	T	C	T256591C	FAM20C	NM_020223.4(FAM20C):c.1254-63T>C	noncoding	Benign
7	256705	C	T	C256705T	FAM20C	NM_020223.4(FAM20C):c.1305C>T:p.Tyr435=	coding	Benign/Likely_benign
7	256751	G	A	G256751A	FAM20C	NM_020223.4(FAM20C):c.1351G>A:p.Asp451Asn	coding	Pathogenic
7	256773	G	A	G256773A	FAM20C	NM_020223.4(FAM20C):c.1363+10G>A	noncoding	Benign
7	257057	G	A	G257057A	FAM20C	NM_020223.4(FAM20C):c.1416G>A:p.Thr472=	coding	Benign
7	257101	G	A	G257101A	FAM20C	NM_020223.4(FAM20C):c.1445+15G>A	noncoding	Benign
7	257139	C	A	C257139A	FAM20C	NM_020223.4(FAM20C):c.1445+53C>A	noncoding	Benign
7	257272	G	A	G257272A	FAM20C	NM_020223.4(FAM20C):c.1445+186G>A	noncoding	Benign
7	258547	C	T	C258547T	FAM20C	NM_020223.4(FAM20C):c.1446-99C>T	noncoding	Benign
7	258661	G	A	G258661A	FAM20C	NM_020223.4(FAM20C):c.1461G>A:p.Ser487=	coding	Benign
7	258664	C	T	C258664T	FAM20C	NM_020223.4(FAM20C):c.1464C>T:p.His488=	coding	Benign
7	258718	C	A	C258718A	FAM20C	NM_020223.4(FAM20C):c.1505+13C>A	noncoding	Benign/Likely_benign
7	258725	C	T	C258725T	FAM20C	NM_020223.4(FAM20C):c.1505+20C>T	noncoding	Benign
7	258841	T	C	T258841C	FAM20C	NM_020223.4(FAM20C):c.1505+136T>C	noncoding	Benign
7	258878	C	A	C258878A	FAM20C	NM_020223.4(FAM20C):c.1505+173C>A	noncoding	Benign
7	258906	G	C	G258906C	FAM20C	NM_020223.4(FAM20C):c.1505+201G>C	noncoding	Benign
7	258928	C	T	C258928T	FAM20C	NM_020223.4(FAM20C):c.1505+223C>T	noncoding	Benign
7	258945	T	C	T258945C	FAM20C	NM_020223.4(FAM20C):c.1505+240T>C	noncoding	Benign
7	259484	T	C	T259484C	FAM20C	NM_020223.4(FAM20C):c.1506-247T>C	noncoding	Benign
7	259676	G	A	G259676A	FAM20C	NM_020223.4(FAM20C):c.1506-55G>A	noncoding	Benign
7	259686	A	G	A259686G	FAM20C	NM_020223.4(FAM20C):c.1506-45A>G	noncoding	Benign
7	259905	C	T	C259905T	FAM20C	NM_020223.4(FAM20C):c.1680C>T:p.Cys560=	coding	Benign
7	259942	G	A	G259942A	FAM20C	NM_020223.4(FAM20C):c.1717G>A:p.Asp573Asn	coding	Benign
7	259965	C	T	C259965T	FAM20C	NM_020223.4(FAM20C):c.1740C>T:p.Ala580=	coding	Benign
7	259973	C	T	C259973T	FAM20C	NM_020223.4(FAM20C):c.1748C>T:p.Ala583Val	coding	Benign
7	259974	G	A	G259974A	FAM20C	NM_020223.4(FAM20C):c.1749G>A:p.Ala583=	coding	Benign
7	260010	G	A	G260010A	FAM20C	NM_020223.4(FAM20C):c.*30G>A	noncoding	Benign
7	260021	C	G	C260021G	FAM20C	NM_020223.4(FAM20C):c.*41C>G	noncoding	Benign
7	260186	G	A	G260186A	FAM20C	NM_020223.4(FAM20C):c.*206G>A	noncoding	Benign
7	260211	G	A	G260211A	FAM20C	NM_020223.4(FAM20C):c.*231G>A	noncoding	Benign
7	260215	G	A	G260215A	FAM20C	NM_020223.4(FAM20C):c.*235G>A	noncoding	Benign
7	550511	G	A	G550511A	PRKAR1B	NM_001164760.2(PRKAR1B):c.1065C>T:p.Phe355=	coding	Benign
7	550562	A	G	A550562G	PRKAR1B	NM_001164760.2(PRKAR1B):c.1014T>C:p.Thr338=	coding	Benign
7	550573	G	A	G550573A	PRKAR1B	NM_001164760.2(PRKAR1B):c.1003C>T:p.Arg335Trp	coding	Pathogenic/Likely_pathogenic
7	550592	T	C	T550592C	PRKAR1B	NM_001164760.2(PRKAR1B):c.984A>G:p.Ala328=	coding	Benign
7	550610	T	G	T550610G	PRKAR1B	NM_001164760.2(PRKAR1B):c.974-8A>C	noncoding	Benign
7	551488	C	G	C551488G	PRKAR1B	NM_001164760.2(PRKAR1B):c.892-18G>C	noncoding	Benign
7	579301	A	G	A579301G	PRKAR1B	NM_001164760.2(PRKAR1B):c.846T>C:p.Ile282=	coding	Benign
7	584584	T	G	T584584G	PRKAR1B	NM_001164760.2(PRKAR1B):c.709-16A>C	noncoding	Benign
7	726379	T	C	T726379C	DNAAF5	NM_001164760.2(PRKAR1B):c.-23+831A>G	noncoding	Benign
7	726531	A	C	A726531C	DNAAF5	NM_001164760.2(PRKAR1B):c.-23+679T>G	noncoding	Benign
7	726583	A	G	A726583G	DNAAF5	NM_001164760.2(PRKAR1B):c.-23+627T>C	noncoding	Benign
7	727345	C	A	C727345A	DNAAF5	NM_017802.4(DNAAF5):c.595+30C>A	noncoding	Benign
7	729547	A	G	A729547G	DNAAF5	NM_017802.4(DNAAF5):c.596-116A>G	noncoding	Benign
7	729555	A	G	A729555G	DNAAF5	NM_017802.4(DNAAF5):c.596-108A>G	noncoding	Benign
7	729559	G	T	G729559T	DNAAF5	NM_017802.4(DNAAF5):c.596-104G>T	noncoding	Benign
7	729707	C	G	C729707G	DNAAF5	NM_017802.4(DNAAF5):c.640C>G:p.Gln214Glu	coding	Benign/Likely_benign
7	729774	A	T	A729774T	DNAAF5	NM_017802.4(DNAAF5):c.707A>T:p.His236Leu	coding	Benign/Likely_benign
7	740483	C	T	C740483T	DNAAF5	NM_017802.4(DNAAF5):c.781-336C>T	noncoding	Benign
7	740731	G	A	G740731A	DNAAF5	NM_017802.4(DNAAF5):c.781-88G>A	noncoding	Benign
7	740786	A	T	A740786T	DNAAF5	NM_017802.4(DNAAF5):c.781-33A>T	noncoding	Benign
7	740958	G	A	G740958A	DNAAF5	NM_017802.4(DNAAF5):c.905+15G>A	noncoding	Benign
7	741050	T	C	T741050C	DNAAF5	NM_017802.4(DNAAF5):c.905+107T>C	noncoding	Benign
7	741222	T	G	T741222G	DNAAF5	NM_017802.4(DNAAF5):c.906-125T>G	noncoding	Benign
7	741384	C	T	C741384T	DNAAF5	NM_017802.4(DNAAF5):c.943C>T:p.Gln315Ter	coding	Pathogenic
7	741775	G	C	G741775C	DNAAF5	NM_017802.4(DNAAF5):c.1024+310G>C	noncoding	Benign
7	754455	C	T	C754455T	DNAAF5	NM_017802.4(DNAAF5):c.1025-134C>T	noncoding	Benign
7	754939	C	T	C754939T	DNAAF5	NM_017802.4(DNAAF5):c.1257+118C>T	noncoding	Benign
7	754991	C	T	C754991T	DNAAF5	NM_017802.4(DNAAF5):c.1257+170C>T	noncoding	Benign
7	756622	C	T	C756622T	DNAAF5	NM_017802.4(DNAAF5):c.1258-160C>T	noncoding	Benign
7	756956	G	A	G756956A	DNAAF5	NM_017802.4(DNAAF5):c.1432G>A:p.Glu478Lys	coding	Benign/Likely_benign
7	756970	C	G	C756970G	DNAAF5	NM_017802.4(DNAAF5):c.1446C>G:p.Ala482=	coding	Benign
7	757242	G	A	G757242A	DNAAF5	NM_017802.4(DNAAF5):c.1470+248G>A	noncoding	Benign
7	757246	C	T	C757246T	DNAAF5	NM_017802.4(DNAAF5):c.1470+252C>T	noncoding	Benign
7	757268	C	T	C757268T	DNAAF5	NM_017802.4(DNAAF5):c.1470+274C>T	noncoding	Benign
7	761821	C	T	C761821T	DNAAF5	NM_017802.4(DNAAF5):c.1539C>T:p.Gly513=	coding	Benign
7	762155	C	G	C762155G	DNAAF5	NM_017802.4(DNAAF5):c.1614+259C>G	noncoding	Benign
7	763607	C	T	C763607T	DNAAF5	NM_017802.4(DNAAF5):c.1615-199C>T	noncoding	Benign
7	763705	G	A	G763705A	DNAAF5	NM_017802.4(DNAAF5):c.1615-101G>A	noncoding	Benign
7	769173	C	G	C769173G	DNAAF5	NM_017802.4(DNAAF5):c.1784-1298C>G	noncoding	Benign
7	770283	T	C	T770283C	DNAAF5	NM_017802.4(DNAAF5):c.1784-188T>C	noncoding	Benign
7	770417	G	T	G770417T	DNAAF5	NM_017802.4(DNAAF5):c.1784-54G>T	noncoding	Benign
7	770418	C	T	C770418T	DNAAF5	NM_017802.4(DNAAF5):c.1784-53C>T	noncoding	Benign
7	770427	G	A	G770427A	DNAAF5	NM_017802.4(DNAAF5):c.1784-44G>A	noncoding	Benign
7	770832	C	T	C770832T	DNAAF5	NM_017802.4(DNAAF5):c.1931+214C>T	noncoding	Benign
7	770869	T	C	T770869C	DNAAF5	NM_017802.4(DNAAF5):c.1931+251T>C	noncoding	Benign
7	773981	T	C	T773981C	DNAAF5	NM_017802.4(DNAAF5):c.1932-67T>C	noncoding	Benign
7	774013	G	A	G774013A	DNAAF5	NM_017802.4(DNAAF5):c.1932-35G>A	noncoding	Benign
7	774230	C	G	C774230G	DNAAF5	NM_017802.4(DNAAF5):c.2082+32C>G	noncoding	Benign
7	774792	G	A	G774792A	DNAAF5	NM_017802.4(DNAAF5):c.2083-214G>A	noncoding	Benign
7	774975	G	A	G774975A	DNAAF5	NM_017802.4(DNAAF5):c.2083-31G>A	noncoding	Benign
7	775075	C	T	C775075T	DNAAF5	NM_017802.4(DNAAF5):c.2152C>T:p.Arg718Ter	coding	Pathogenic
7	779840	T	C	T779840C	DNAAF5	NM_017802.4(DNAAF5):c.2240-113T>C	noncoding	Benign
7	780087	C	T	C780087T	DNAAF5	NM_017802.4(DNAAF5):c.2374C>T:p.Arg792Ter	coding	Pathogenic
7	785362	G	A	G785362A	DNAAF5	NM_017802.4(DNAAF5):c.2432-155G>A	noncoding	Benign
7	785368	T	C	T785368C	DNAAF5	NM_017802.4(DNAAF5):c.2432-149T>C	noncoding	Benign
7	785477	T	C	T785477C	DNAAF5	NM_017802.4(DNAAF5):c.2432-40T>C	noncoding	Benign
7	785792	A	G	A785792G	DNAAF5	NM_017802.4(DNAAF5):c.*139A>G	noncoding	Benign
7	785857	G	A	G785857A	DNAAF5	NM_017802.4(DNAAF5):c.*204G>A	noncoding	Benign
7	832463	T	C	T832463C	SUN1	NM_025154.6(SUN1):c.-73-6335T>C	noncoding	Benign
7	832618	A	T	A832618T	SUN1	NM_001130965.3(SUN1):c.77+17A>T	noncoding	Benign
7	838923	G	A	G838923A	SUN1	NM_001130965.3(SUN1):c.203G>A:p.Gly68Asp	coding	Benign
7	839130	T	C	T839130C	SUN1	NM_001130965.3(SUN1):c.266+144T>C	noncoding	Benign
7	841752	G	A	G841752A	SUN1	NM_001130965.3(SUN1):c.267-194G>A	noncoding	Benign
7	842031	C	T	C842031T	SUN1	NM_001130965.3(SUN1):c.352C>T:p.His118Tyr	coding	Benign
7	842221	C	T	C842221T	SUN1	NM_001130965.3(SUN1):c.451+91C>T	noncoding	Benign
7	843194	T	G	T843194G	SUN1	NM_001130965.3(SUN1):c.452-12T>G	noncoding	Benign
7	843258	C	G	C843258G	SUN1	NM_001130965.3(SUN1):c.478+26C>G	noncoding	Benign
7	843641	A	G	A843641G	SUN1	NM_001130965.3(SUN1):c.658+121A>G	coding	Benign
7	851341	T	C	T851341C	SUN1	NM_001130965.3(SUN1):c.659-43T>C	noncoding	Benign
7	851999	G	A	G851999A	SUN1	NM_001130965.3(SUN1):c.807G>A:p.Gln269=	coding	Benign
7	852779	C	A	C852779A	SUN1	NM_001130965.3(SUN1):c.911-31C>A	noncoding	Benign
7	852795	G	A	G852795A	SUN1	NM_001130965.3(SUN1):c.911-15G>A	noncoding	Benign
7	852798	C	G	C852798G	SUN1	NM_001130965.3(SUN1):c.911-12C>G	noncoding	Benign
7	853144	A	G	A853144G	SUN1	NM_001130965.3(SUN1):c.1053+192A>G	noncoding	Benign
7	853252	A	G	A853252G	SUN1	NM_001130965.3(SUN1):c.1054-157A>G	noncoding	Benign
7	853265	C	T	C853265T	SUN1	NM_001130965.3(SUN1):c.1054-144C>T	noncoding	Benign
7	853660	G	C	G853660C	SUN1	NM_001130965.3(SUN1):c.1263+42G>C	noncoding	Benign
7	853770	G	A	G853770A	SUN1	NM_001130965.3(SUN1):c.1263+152G>A	noncoding	Benign
7	854785	T	C	T854785C	SUN1	NM_001130965.3(SUN1):c.1264-135T>C	noncoding	Benign
7	854914	C	A	C854914A	SUN1	NM_001130965.3(SUN1):c.1264-6C>A	noncoding	Benign
7	855021	C	G	C855021G	SUN1	NM_001130965.3(SUN1):c.1350+15C>G	noncoding	Benign
7	855021	C	T	C855021T	SUN1	NM_001130965.3(SUN1):c.1350+15C>T	noncoding	Benign
7	855193	T	C	T855193C	SUN1	NM_001130965.3(SUN1):c.1350+187T>C	noncoding	Benign
7	856291	A	G	A856291G	SUN1	NM_001130965.3(SUN1):c.1351-67A>G	noncoding	Benign
7	856505	C	T	C856505T	SUN1	NM_001130965.3(SUN1):c.1394+104C>T	noncoding	Benign
7	856606	G	A	G856606A	SUN1	NM_001130965.3(SUN1):c.1394+205G>A	noncoding	Benign
7	857855	A	G	A857855G	SUN1	NM_001130965.3(SUN1):c.1422A>G:p.Thr474=	coding	Benign
7	857859	G	A	G857859A	SUN1	NM_001130965.3(SUN1):c.1426G>A:p.Glu476Lys	coding	Benign
7	859950	A	G	A859950G	SUN1	NM_001130965.3(SUN1):c.1525-178A>G	noncoding	Benign
7	860073	A	C	A860073C	SUN1	NM_001130965.3(SUN1):c.1525-55A>C	noncoding	Benign
7	860111	G	A	G860111A	SUN1	NM_001130965.3(SUN1):c.1525-17G>A	noncoding	Benign
7	860398	G	A	G860398A	SUN1	NM_001130965.3(SUN1):c.1779+16G>A	noncoding	Benign
7	860528	G	A	G860528A	SUN1	NM_001130965.3(SUN1):c.1779+146G>A	noncoding	Benign
7	861268	C	G	C861268G	SUN1	NM_001130965.3(SUN1):c.1780-112C>G	noncoding	Benign
7	861322	C	T	C861322T	SUN1	NM_001130965.3(SUN1):c.1780-58C>T	noncoding	Benign
7	861478	C	T	C861478T	SUN1	NM_001130965.3(SUN1):c.1864+14C>T	noncoding	Benign
7	866078	G	A	G866078A	SUN1	NM_001130965.3(SUN1):c.1980+11G>A	noncoding	Benign
7	866081	G	A	G866081A	SUN1	NM_001130965.3(SUN1):c.1980+14G>A	noncoding	Benign
7	866149	A	G	A866149G	SUN1	NM_001130965.3(SUN1):c.1980+82A>G	noncoding	Benign
7	866185	G	C	G866185C	SUN1	NM_001130965.3(SUN1):c.1980+118G>C	noncoding	Benign
7	866227	G	C	G866227C	SUN1	NM_001130965.3(SUN1):c.1980+160G>C	noncoding	Benign
7	869529	G	A	G869529A	SUN1	NM_001130965.3(SUN1):c.2148+13G>A	noncoding	Benign
7	869533	G	A	G869533A	SUN1	NM_001130965.3(SUN1):c.2148+17G>A	noncoding	Benign
7	869615	G	A	G869615A	SUN1	NM_001130965.3(SUN1):c.2148+99G>A	noncoding	Benign
7	869713	T	C	T869713C	SUN1	NM_001130965.3(SUN1):c.2148+197T>C	noncoding	Benign
7	872451	T	C	T872451C	SUN1	NM_001130965.3(SUN1):c.2149-19T>C	noncoding	Benign
7	873118	C	T	C873118T	SUN1	NM_001130965.3(SUN1):c.2242-97C>T	noncoding	Benign
7	1091775	C	T	C1091775T	GPER1	NM_001098201.3(GPER1):c.47C>T:p.Pro16Leu	coding	Benign
7	1474769	G	A	G1474769A	INTS1	NM_001080453.3(INTS1):c.5572C>T:p.Arg1858Ter	coding	Pathogenic
7	1478700	G	A	G1478700A	INTS1	NM_001080453.3(INTS1):c.4489+26C>T	noncoding	Benign
7	1480256	C	G	C1480256G	INTS1	NM_001080453.3(INTS1):c.4074+61G>C	noncoding	Benign
7	1480310	A	T	A1480310T	INTS1	NM_001080453.3(INTS1):c.4074+7T>A	noncoding	Benign
7	1482521	T	C	T1482521C	INTS1	NM_001080453.3(INTS1):c.3703+25A>G	noncoding	Benign
7	1482539	A	G	A1482539G	INTS1	NM_001080453.3(INTS1):c.3703+7T>C	noncoding	Benign
7	1483923	T	C	T1483923C	INTS1	NM_001080453.3(INTS1):c.3430-70A>G	noncoding	Benign
7	1488051	C	T	C1488051T	INTS1	NM_001080453.3(INTS1):c.2319-94G>A	noncoding	Benign
7	1492995	G	A	G1492995A	INTS1	NM_001080453.3(INTS1):c.2165+15C>T	noncoding	Benign
7	1493877	A	G	A1493877G	INTS1	NM_001080453.3(INTS1):c.1945T>C:p.Leu649=	coding	Benign
7	1493920	T	C	T1493920C	INTS1	NM_001080453.3(INTS1):c.1911-9A>G	noncoding	Benign
7	1493930	A	G	A1493930G	INTS1	NM_001080453.3(INTS1):c.1911-19T>C	noncoding	Benign
7	1494789	A	G	A1494789G	INTS1	NM_001080453.3(INTS1):c.1910+27T>C	noncoding	Benign
7	1494957	C	A	C1494957A	INTS1	NM_001080453.3(INTS1):c.1833-64G>T	noncoding	Benign
7	1495415	A	G	A1495415G	INTS1	NM_001080453.3(INTS1):c.1832+18T>C	noncoding	Benign
7	1497081	T	C	T1497081C	INTS1	NM_001080453.3(INTS1):c.1602+57A>G	noncoding	Benign
7	1498863	G	C	G1498863C	INTS1	NM_001080453.3(INTS1):c.1138-11C>G	noncoding	Benign
7	1498903	A	G	A1498903G	INTS1	NM_001080453.3(INTS1):c.1138-51T>C	noncoding	Benign
7	1498978	G	A	G1498978A	INTS1	NM_001080453.3(INTS1):c.1134C>T:p.Pro378=	coding	Benign
7	1499241	A	G	A1499241G	INTS1	NM_001080453.3(INTS1):c.950+14T>C	noncoding	Benign
7	1500163	C	T	C1500163T	INTS1	NM_001080453.3(INTS1):c.546+7G>A	noncoding	Benign
7	1500413	A	G	A1500413G	INTS1	NM_001080453.3(INTS1):c.350-47T>C	noncoding	Benign
7	1503061	G	A	G1503061A	INTS1	NM_001080453.3(INTS1):c.189C>T:p.Ala63=	coding	Benign
7	1503178	T	C	T1503178C	INTS1	NM_001080453.3(INTS1):c.72A>G:p.Pro24=	coding	Benign
7	2256858	A	G	A2256858G	SNX8	NM_013321.4(SNX8):c.1284+16T>C	noncoding	Benign
7	2354661	C	T	C2354661T	EIF3B	NM_001362792.2(EIF3B):c.-505+466C>T	noncoding	Benign
7	2354681	C	G	C2354681G	EIF3B	NM_001362792.2(EIF3B):c.-505+486C>G	noncoding	Benign
7	2355111	T	C	T2355111C	EIF3B	NM_001037283.2(EIF3B):c.190T>C:p.Ser64Pro	coding	Benign
7	2355356	C	T	C2355356T	EIF3B	NM_001037283.2(EIF3B):c.435C>T:p.Asn145=	coding	Benign
7	2355408	G	C	G2355408C	EIF3B	NM_001037283.2(EIF3B):c.487G>C:p.Val163Leu	coding	Benign
7	2360671	T	C	T2360671C	EIF3B	NM_001037283.2(EIF3B):c.500-39T>C	noncoding	Benign
7	2366250	C	A	C2366250A	EIF3B	NM_001037283.2(EIF3B):c.1158-67C>A	noncoding	Benign
7	2366871	C	T	C2366871T	EIF3B	NM_001037283.2(EIF3B):c.1357-128C>T	noncoding	Benign
7	2367114	A	C	A2367114C	EIF3B	NM_001037283.2(EIF3B):c.1403+69A>C	noncoding	Benign
7	2369400	C	T	C2369400T	EIF3B	NM_001037283.2(EIF3B):c.1404-72C>T	noncoding	Benign
7	2372858	C	T	C2372858T	EIF3B	NM_001037283.2(EIF3B):c.1810+63C>T	noncoding	Benign
7	2372931	C	G	C2372931G	EIF3B	NM_001037283.2(EIF3B):c.1810+136C>G	noncoding	Benign
7	2373003	A	G	A2373003G	EIF3B	NM_001037283.2(EIF3B):c.1810+208A>G	noncoding	Benign
7	2374507	A	G	A2374507G	EIF3B	NM_001037283.2(EIF3B):c.1811-21A>G	noncoding	Benign
7	2374730	A	G	A2374730G	EIF3B	NM_001037283.2(EIF3B):c.1889+124A>G	noncoding	Benign
7	2375190	A	G	A2375190G	EIF3B	NM_001037283.2(EIF3B):c.1890-199A>G	noncoding	Benign
7	2377176	A	T	A2377176T	EIF3B	NM_001037283.2(EIF3B):c.2154+101A>T	noncoding	Benign
7	2377187	A	G	A2377187G	EIF3B	NM_001037283.2(EIF3B):c.2154+112A>G	noncoding	Benign
7	2379010	A	G	A2379010G	EIF3B	NM_001037283.2(EIF3B):c.2233-124A>G	noncoding	Benign
7	2512229	G	A	G2512229A	LFNG	Single_allele	noncoding	Benign
7	2512747	G	A	G2512747A	LFNG	NM_001166355.2(LFNG):c.47+46G>A	noncoding	Benign
7	2513172	G	C	G2513172C	LFNG	NM_001166355.2(LFNG):c.63G>C:p.Trp21Cys	coding	Benign
7	2513352	A	C	A2513352C	LFNG	NM_001166355.2(LFNG):c.219+24A>C	noncoding	Benign
7	2513549	G	A	G2513549A	LFNG	NM_001166355.2(LFNG):c.219+221G>A	noncoding	Benign
7	2513589	A	G	A2513589G	LFNG	NM_001166355.2(LFNG):c.219+261A>G	noncoding	Benign
7	2519936	C	T	C2519936T	LFNG	NM_001040167.2(LFNG):c.75C>T:p.Thr25=	coding	Benign
7	2520574	C	G	C2520574G	LFNG	NM_001040167.2(LFNG):c.432+281C>G	noncoding	Benign
7	2524404	G	A	G2524404A	LFNG	NM_001040167.2(LFNG):c.433-291G>A	noncoding	Benign
7	2525332	C	T	C2525332T	LFNG	NM_001040167.2(LFNG):c.581+14C>T	noncoding	Benign
7	2525634	C	A	C2525634A	LFNG	NM_001040167.2(LFNG):c.736-51C>A	noncoding	Benign
7	2526235	C	G	C2526235G	LFNG	NM_001040167.2(LFNG):c.822-9C>G	noncoding	Benign
7	2526820	C	T	C2526820T	LFNG	NM_001040167.2(LFNG):c.988-16C>T	noncoding	Benign
7	2526824	C	T	C2526824T	LFNG	NM_001040167.2(LFNG):c.988-12C>T	noncoding	Benign
7	2527130	T	C	T2527130C	LFNG	NM_001040167.2(LFNG):c.1074-16T>C	coding	Benign
7	2529035	G	A	G2529035A	LFNG	NM_001040168.2(LFNG):c.*149G>A	noncoding	Benign
7	2529136	T	C	T2529136C	LFNG	NM_001040168.2(LFNG):c.*250T>C	noncoding	Benign
7	2538057	C	G	C2538057G	BRAT1	NM_152743.4(BRAT1):c.*12G>C	noncoding	Benign
7	2538251	G	A	G2538251A	BRAT1	NM_152743.4(BRAT1):c.2284C>T:p.Gln762Ter	coding	Pathogenic
7	2538547	C	T	C2538547T	BRAT1	NM_152743.4(BRAT1):c.1988G>A:p.Gly663Asp	coding	Benign
7	2538604	C	T	C2538604T	BRAT1	NM_152743.4(BRAT1):c.1931G>A:p.Arg644Gln	coding	Benign
7	2538800	G	T	G2538800T	BRAT1	NM_152743.4(BRAT1):c.1771-36C>A	noncoding	Benign
7	2538821	G	A	G2538821A	BRAT1	NM_152743.4(BRAT1):c.1771-57C>T	noncoding	Benign
7	2539100	C	T	C2539100T	BRAT1	NM_152743.4(BRAT1):c.1770+79G>A	noncoding	Benign
7	2539166	T	C	T2539166C	BRAT1	NM_152743.4(BRAT1):c.1770+13A>G	noncoding	Benign
7	2539181	G	A	G2539181A	BRAT1	NM_152743.4(BRAT1):c.1768C>T:p.Gln590Ter	coding	Pathogenic
7	2539238	G	A	G2539238A	BRAT1	NM_152743.4(BRAT1):c.1711C>T:p.Gln571Ter	coding	Pathogenic
7	2539295	G	A	G2539295A	BRAT1	NM_152743.4(BRAT1):c.1654C>T:p.Gln552Ter	coding	Pathogenic
7	2539371	C	T	C2539371T	BRAT1	NM_152743.4(BRAT1):c.1598-20G>A	noncoding	Benign
7	2539407	C	T	C2539407T	BRAT1	NM_152743.4(BRAT1):c.1598-56G>A	noncoding	Benign
7	2539643	C	A	C2539643A	BRAT1	NM_152743.4(BRAT1):c.1499-1G>T	coding	Pathogenic
7	2540057	C	G	C2540057G	BRAT1	NM_152743.4(BRAT1):c.1396-169G>C	noncoding	Benign
7	2540059	A	G	A2540059G	BRAT1	NM_152743.4(BRAT1):c.1396-171T>C	noncoding	Benign
7	2540123	G	A	G2540123A	BRAT1	NM_152743.4(BRAT1):c.1396-235C>T	noncoding	Benign
7	2540935	C	T	C2540935T	BRAT1	NM_152743.4(BRAT1):c.1395+44G>A	noncoding	Benign
7	2541064	G	A	G2541064A	BRAT1	NM_152743.4(BRAT1):c.1322-12C>T	noncoding	Benign/Likely_benign
7	2541280	C	T	C2541280T	BRAT1	NM_152743.4(BRAT1):c.1321+18G>A	noncoding	Benign
7	2541386	C	T	C2541386T	BRAT1	NM_152743.4(BRAT1):c.1233G>A:p.Val411=	coding	Benign
7	2541556	C	T	C2541556T	BRAT1	NM_152743.4(BRAT1):c.1135-72G>A	noncoding	Benign
7	2541704	C	T	C2541704T	BRAT1	NM_152743.4(BRAT1):c.1134+14G>A	noncoding	Benign
7	2541960	G	A	G2541960A	BRAT1	NM_152743.4(BRAT1):c.1016-124C>T	noncoding	Benign
7	2542224	G	A	G2542224A	BRAT1	NM_152743.4(BRAT1):c.924-13C>T	noncoding	Benign
7	2542225	C	T	C2542225T	BRAT1	NM_152743.4(BRAT1):c.924-14G>A	noncoding	Benign
7	2542360	T	C	T2542360C	BRAT1	NM_152743.4(BRAT1):c.924-149A>G	noncoding	Benign
7	2542950	G	A	G2542950A	BRAT1	NM_152743.4(BRAT1):c.923+254C>T	noncoding	Benign
7	2543531	G	A	G2543531A	BRAT1	NM_152743.4(BRAT1):c.803+59C>T	noncoding	Benign
7	2543562	C	T	C2543562T	BRAT1	NM_152743.4(BRAT1):c.803+28G>A	noncoding	Benign
7	2543579	G	A	G2543579A	BRAT1	NM_152743.4(BRAT1):c.803+11C>T	noncoding	Benign/Likely_benign
7	2543747	G	A	G2543747A	BRAT1	NM_152743.4(BRAT1):c.646C>T:p.Gln216Ter	coding	Pathogenic
7	2543776	A	T	A2543776T	BRAT1	NM_152743.4(BRAT1):c.617T>A:p.Leu206Ter	coding	Pathogenic
7	2543833	G	C	G2543833C	BRAT1	NM_152743.4(BRAT1):c.560C>G:p.Pro187Arg	coding	Benign
7	2544889	T	C	T2544889C	BRAT1	NM_152743.4(BRAT1):c.430+20A>G	noncoding	Benign
7	2547139	C	T	C2547139T	BRAT1	NM_152743.4(BRAT1):c.282+185G>A	noncoding	Benign
7	2547488	T	C	T2547488C	BRAT1	NM_152743.4(BRAT1):c.128-10A>G	noncoding	Benign
7	2547516	C	T	C2547516T	BRAT1	NM_152743.4(BRAT1):c.128-38G>A	noncoding	Benign
7	2547698	C	T	C2547698T	BRAT1	NM_152743.4(BRAT1):c.128-220G>A	noncoding	Benign
7	2554079	C	T	C2554079T	BRAT1	NM_152743.4(BRAT1):c.127+226G>A	noncoding	Benign
7	2554290	G	C	G2554290C	BRAT1	NM_152743.4(BRAT1):c.127+15C>G	noncoding	Benign
7	2554547	C	T	C2554547T	BRAT1	NM_152743.4(BRAT1):c.-16-100G>A	noncoding	Benign
7	2554704	C	T	C2554704T	BRAT1	NM_152743.4(BRAT1):c.-16-257G>A	noncoding	Benign
7	2571607	G	A	G2571607A	IQCE	NM_152558.5(IQCE):c.212G>A:p.Arg71Gln	coding	Benign
7	2572244	T	C	T2572244C	IQCE	NM_152558.5(IQCE):c.312T>C:p.Thr104=	coding	Benign
7	2573408	G	C	G2573408C	IQCE	NM_152558.5(IQCE):c.395-10G>C	noncoding	Benign
7	2573428	T	C	T2573428C	IQCE	NM_152558.5(IQCE):c.405T>C:p.Pro135=	coding	Benign
7	2573499	G	A	G2573499A	IQCE	NM_152558.5(IQCE):c.465+11G>A	noncoding	Benign
7	2583717	G	A	G2583717A	IQCE	NM_152558.5(IQCE):c.774+8G>A	noncoding	Benign
7	2586204	C	T	C2586204T	IQCE	NM_152558.5(IQCE):c.825-4C>T	noncoding	Benign
7	2604885	C	T	C2604885T	IQCE	NM_152558.5(IQCE):c.1637C>T:p.Ala546Val	coding	Benign
7	2604973	G	T	G2604973T	IQCE	NM_152558.5(IQCE):c.1725G>T:p.Val575=	coding	Benign
7	2605892	G	A	G2605892A	IQCE	NM_152558.5(IQCE):c.1760G>A:p.Arg587His	coding	Benign
7	2605918	A	G	A2605918G	IQCE	NM_152558.5(IQCE):c.1786A>G:p.Thr596Ala	coding	Benign
7	2607162	G	A	G2607162A	IQCE	NM_152558.5(IQCE):c.1904G>A:p.Arg635Lys	coding	Benign
7	2607316	T	G	T2607316G	IQCE	NM_152558.5(IQCE):c.1969+89T>G	coding	Benign
7	2610039	T	C	T2610039C	IQCE	NM_152558.5(IQCE):c.1970-5T>C	noncoding	Benign
7	2610070	T	G	T2610070G	IQCE	NM_152558.5(IQCE):c.1996T>G:p.Leu666Val	coding	Benign
7	2610143	C	T	C2610143T	IQCE	NM_152558.5(IQCE):c.2069C>T:p.Thr690Met	coding	Benign
7	2610185	C	T	C2610185T	IQCE	NM_152558.5(IQCE):c.*23C>T	noncoding	Benign
7	2912190	A	G	A2912190G	CARD11	NM_032415.7(CARD11):c.3126T>C:p.Ile1042=	coding	Benign
7	2913270	C	T	C2913270T	CARD11	NM_032415.7(CARD11):c.3019+17G>A	noncoding	Benign
7	2915167	T	C	T2915167C	CARD11	NM_032415.7(CARD11):c.2839+70A>G	noncoding	Benign
7	2917284	C	A	C2917284A	CARD11	NM_032415.7(CARD11):c.2703+6G>T	noncoding	Benign
7	2917371	T	C	T2917371C	CARD11	NM_032415.7(CARD11):c.2622A>G:p.Pro874=	coding	Benign
7	2919445	C	A	C2919445A	CARD11	NM_032415.7(CARD11):c.2437G>T:p.Glu813Ter	coding	Pathogenic
7	2919515	G	A	G2919515A	CARD11	NM_032415.7(CARD11):c.2367C>T:p.Asp789=	coding	Benign
7	2919538	G	A	G2919538A	CARD11	NM_032415.7(CARD11):c.2344C>T:p.Leu782=	coding	Benign
7	2922659	C	G	C2922659G	CARD11	NM_032415.7(CARD11):c.2244G>C:p.Thr748=	coding	Benign
7	2922661	T	C	T2922661C	CARD11	NM_032415.7(CARD11):c.2242A>G:p.Thr748Ala	coding	Benign
7	2923118	C	T	C2923118T	CARD11	NM_032415.7(CARD11):c.2142+14G>A	noncoding	Benign
7	2923212	G	A	G2923212A	CARD11	NM_032415.7(CARD11):c.2062C>T:p.Arg688Ter	coding	Pathogenic
7	2924377	C	T	C2924377T	CARD11	NM_032415.7(CARD11):c.1808-12G>A	noncoding	Benign
7	2926811	T	G	T2926811G	CARD11	NM_032415.7(CARD11):c.1755-20A>C	noncoding	Benign
7	2928727	G	A	G2928727A	CARD11	NM_032415.7(CARD11):c.1654-29C>T	noncoding	Benign
7	2937895	T	G	T2937895G	CARD11	NM_032415.7(CARD11):c.1143+12A>C	noncoding	Benign
7	2938659	C	T	C2938659T	CARD11	NM_032415.7(CARD11):c.1017+20G>A	noncoding	Benign
7	2938751	G	A	G2938751A	CARD11	NM_032415.7(CARD11):c.945C>T:p.Asp315=	coding	Benign/Likely_benign
7	2939808	G	A	G2939808A	CARD11	NM_032415.7(CARD11):c.805C>T:p.Leu269=	coding	Benign
7	2939820	G	A	G2939820A	CARD11	NM_032415.7(CARD11):c.793C>T:p.Gln265Ter	coding	Pathogenic
7	2944220	G	A	G2944220A	CARD11	NM_032415.7(CARD11):c.676C>T:p.Gln226Ter	coding	Pathogenic
7	2944519	C	T	C2944519T	CARD11	NM_032415.7(CARD11):c.377G>A:p.Gly126Asp	coding	Pathogenic
7	2945802	A	G	A2945802G	CARD11	NM_032415.7(CARD11):c.358+17T>C	noncoding	Benign
7	2945828	T	G	T2945828G	CARD11	NM_032415.7(CARD11):c.349A>C:p.Thr117Pro	coding	Pathogenic
7	2947655	C	T	C2947655T	CARD11	NM_032415.7(CARD11):c.140G>A:p.Arg47His	coding	Pathogenic
7	2947707	G	A	G2947707A	CARD11	NM_032415.7(CARD11):c.88C>T:p.Arg30Trp	coding	Pathogenic/Likely_pathogenic
7	4775417	G	A	G4775417A	AP5Z1	Single_allele	noncoding	Benign
7	4775501	G	A	G4775501A	AP5Z1	Single_allele	noncoding	Benign
7	4775504	C	A	C4775504A	AP5Z1	Single_allele	noncoding	Benign
7	4775532	T	G	T4775532G	AP5Z1	Single_allele	noncoding	Benign
7	4775713	G	A	G4775713A	AP5Z1	NM_014855.3(AP5Z1):c.-3G>A	noncoding	Benign/Likely_benign
7	4775772	G	A	G4775772A	AP5Z1	NM_014855.3(AP5Z1):c.41+16G>A	noncoding	Benign
7	4775897	T	G	T4775897G	AP5Z1	NM_014855.3(AP5Z1):c.41+141T>G	noncoding	Benign
7	4775972	T	C	T4775972C	AP5Z1	NM_014855.3(AP5Z1):c.41+216T>C	noncoding	Benign
7	4776041	C	G	C4776041G	AP5Z1	NM_014855.3(AP5Z1):c.41+285C>G	noncoding	Benign
7	4780950	T	C	T4780950C	AP5Z1	NM_014855.3(AP5Z1):c.42-225T>C	noncoding	Benign
7	4781182	C	T	C4781182T	AP5Z1	NM_014855.3(AP5Z1):c.49C>T:p.Gln17Ter	coding	Pathogenic
7	4781291	C	A	C4781291A	AP5Z1	NM_014855.3(AP5Z1):c.158C>A:p.Ser53Ter	coding	Pathogenic
7	4783006	C	G	C4783006G	AP5Z1	NM_014855.3(AP5Z1):c.367-310C>G	noncoding	Benign
7	4783011	C	T	C4783011T	AP5Z1	NM_014855.3(AP5Z1):c.367-305C>T	noncoding	Benign
7	4783147	G	C	G4783147C	AP5Z1	NM_014855.3(AP5Z1):c.367-169G>C	noncoding	Benign
7	4783256	T	C	T4783256C	AP5Z1	NM_014855.3(AP5Z1):c.367-60T>C	noncoding	Benign
7	4783547	G	T	G4783547T	AP5Z1	NM_014855.3(AP5Z1):c.511+87G>T	noncoding	Benign
7	4783555	G	T	G4783555T	AP5Z1	NM_014855.3(AP5Z1):c.511+95G>T	noncoding	Benign
7	4783966	G	A	G4783966A	AP5Z1	NM_014855.3(AP5Z1):c.621+168G>A	noncoding	Benign
7	4784092	G	A	G4784092A	AP5Z1	NM_014855.3(AP5Z1):c.622-111G>A	noncoding	Benign
7	4784389	A	T	A4784389T	AP5Z1	NM_014855.3(AP5Z1):c.790+18A>T	noncoding	Benign
7	4784500	A	G	A4784500G	AP5Z1	NM_014855.3(AP5Z1):c.790+129A>G	noncoding	Benign
7	4784680	C	T	C4784680T	AP5Z1	NM_014855.3(AP5Z1):c.791-228C>T	noncoding	Benign
7	4784798	C	T	C4784798T	AP5Z1	NM_014855.3(AP5Z1):c.791-110C>T	noncoding	Benign
7	4785045	C	T	C4785045T	AP5Z1	NM_014855.3(AP5Z1):c.928C>T:p.Arg310Ter	coding	Pathogenic/Likely_pathogenic
7	4785256	A	G	A4785256G	AP5Z1	NM_014855.3(AP5Z1):c.932-159A>G	noncoding	Benign
7	4785372	T	C	T4785372C	AP5Z1	NM_014855.3(AP5Z1):c.932-43T>C	noncoding	Benign
7	4785698	G	T	G4785698T	AP5Z1	NM_014855.3(AP5Z1):c.1132+14G>T	noncoding	Benign/Likely_benign
7	4785943	G	A	G4785943A	AP5Z1	NM_014855.3(AP5Z1):c.1132+259G>A	noncoding	Benign
7	4785995	C	T	C4785995T	AP5Z1	NM_014855.3(AP5Z1):c.1133-255C>T	noncoding	Benign
7	4786055	G	T	G4786055T	AP5Z1	NM_014855.3(AP5Z1):c.1133-195G>T	noncoding	Benign
7	4786220	C	T	C4786220T	AP5Z1	NM_014855.3(AP5Z1):c.1133-30C>T	noncoding	Benign
7	4786231	G	C	G4786231C	AP5Z1	NM_014855.3(AP5Z1):c.1133-19G>C	noncoding	Benign/Likely_benign
7	4786560	G	A	G4786560A	AP5Z1	NM_014855.3(AP5Z1):c.1311+132G>A	noncoding	Benign
7	4786708	T	C	T4786708C	AP5Z1	NM_014855.3(AP5Z1):c.1311+280T>C	noncoding	Benign
7	4787529	G	C	G4787529C	AP5Z1	NM_014855.3(AP5Z1):c.1312-105G>C	noncoding	Benign
7	4787614	C	T	C4787614T	AP5Z1	NM_014855.3(AP5Z1):c.1312-20C>T	noncoding	Benign/Likely_benign
7	4787645	G	A	G4787645A	AP5Z1	NM_014855.3(AP5Z1):c.1323G>A:p.Trp441Ter	coding	Pathogenic
7	4787789	C	T	C4787789T	AP5Z1	NM_014855.3(AP5Z1):c.1454+13C>T	noncoding	Benign
7	4787849	T	C	T4787849C	AP5Z1	NM_014855.3(AP5Z1):c.1454+73T>C	noncoding	Benign
7	4788065	A	C	A4788065C	AP5Z1	NM_014855.3(AP5Z1):c.1455-89A>C	noncoding	Benign
7	4788265	G	T	G4788265T	AP5Z1	NM_014855.3(AP5Z1):c.1566G>T:p.Leu522=	coding	Benign
7	4788341	G	A	G4788341A	AP5Z1	NM_014855.3(AP5Z1):c.1595+47G>A	noncoding	Benign
7	4788397	T	G	T4788397G	AP5Z1	NM_014855.3(AP5Z1):c.1595+103T>G	noncoding	Benign
7	4788446	C	T	C4788446T	AP5Z1	NM_014855.3(AP5Z1):c.1595+152C>T	noncoding	Benign
7	4788528	A	G	A4788528G	AP5Z1	NM_014855.3(AP5Z1):c.1595+234A>G	noncoding	Benign
7	4788532	T	C	T4788532C	AP5Z1	NM_014855.3(AP5Z1):c.1595+238T>C	noncoding	Benign
7	4788535	C	T	C4788535T	AP5Z1	NM_014855.3(AP5Z1):c.1595+241C>T	noncoding	Benign
7	4788774	G	A	G4788774A	AP5Z1	NM_014855.3(AP5Z1):c.1596-66G>A	noncoding	Benign
7	4788837	C	G	C4788837G	AP5Z1	NM_014855.3(AP5Z1):c.1596-3C>G	noncoding	Pathogenic
7	4788997	T	C	T4788997C	AP5Z1	NM_014855.3(AP5Z1):c.1707+46T>C	noncoding	Benign
7	4789161	G	A	G4789161A	AP5Z1	NM_014855.3(AP5Z1):c.1707+210G>A	noncoding	Benign
7	4789661	G	A	G4789661A	AP5Z1	NM_014855.3(AP5Z1):c.1708-171G>A	noncoding	Benign
7	4789740	C	G	C4789740G	AP5Z1	NM_014855.3(AP5Z1):c.1708-92C>G	noncoding	Benign
7	4789912	C	T	C4789912T	AP5Z1	NM_014855.3(AP5Z1):c.1788C>T:p.Tyr596=	coding	Benign
7	4790054	A	C	A4790054C	AP5Z1	NM_014855.3(AP5Z1):c.1805+125A>C	noncoding	Benign
7	4790110	T	C	T4790110C	AP5Z1	NM_014855.3(AP5Z1):c.1805+181T>C	noncoding	Benign
7	4790324	C	T	C4790324T	AP5Z1	NM_014855.3(AP5Z1):c.1806-135C>T	noncoding	Benign
7	4790338	C	T	C4790338T	AP5Z1	NM_014855.3(AP5Z1):c.1806-121C>T	noncoding	Benign
7	4790417	T	G	T4790417G	AP5Z1	NM_014855.3(AP5Z1):c.1806-42T>G	noncoding	Benign
7	4790672	G	A	G4790672A	AP5Z1	NM_014855.3(AP5Z1):c.1939-1G>A	noncoding	Pathogenic
7	4790699	G	C	G4790699C	AP5Z1	NM_014855.3(AP5Z1):c.1965G>C:p.Ser655=	coding	Benign
7	4791453	G	A	G4791453A	AP5Z1	NM_014855.3(AP5Z1):c.*68G>A	noncoding	Benign/Likely_benign
7	4791590	G	A	G4791590A	AP5Z1	NM_014855.3(AP5Z1):c.*205G>A	noncoding	Benign/Likely_benign
7	4791635	T	G	T4791635G	AP5Z1	NM_014855.3(AP5Z1):c.*250T>G	noncoding	Benign/Likely_benign
7	4791661	T	C	T4791661C	AP5Z1	NM_014855.3(AP5Z1):c.*276T>C	noncoding	Benign/Likely_benign
7	5217162	T	G	T5217162G	WIPI2	NM_015610.4(WIPI2):c.551T>G:p.Val184Gly	coding	Pathogenic
7	5308115	C	T	C5308115T	TNRC18	NM_001080495.3(TNRC18):c.8898G>A:p.Val2966=	coding	Benign
7	5308118	G	A	G5308118A	TNRC18	NM_001080495.3(TNRC18):c.8895C>T:p.Pro2965=	coding	Benign
7	5308283	G	A	G5308283A	TNRC18	NM_001080495.3(TNRC18):c.8730C>T:p.Asp2910=	coding	Benign
7	5308851	A	C	A5308851C	TNRC18	NM_001080495.3(TNRC18):c.8700+24T>G	noncoding	Benign
7	5309094	G	A	G5309094A	TNRC18	NM_001080495.3(TNRC18):c.8625+38C>T	noncoding	Benign
7	5313004	T	G	T5313004G	TNRC18	NM_001080495.3(TNRC18):c.7887A>C:p.Ser2629=	coding	Benign/Likely_benign
7	5313028	G	T	G5313028T	TNRC18	NM_001080495.3(TNRC18):c.7863C>A:p.Ser2621=	coding	Benign
7	5313034	T	G	T5313034G	TNRC18	NM_001080495.3(TNRC18):c.7857A>C:p.Ser2619=	coding	Benign/Likely_benign
7	5313100	G	A	G5313100A	TNRC18	NM_001080495.3(TNRC18):c.7791C>T:p.Thr2597=	coding	Benign
7	5313318	G	C	G5313318C	TNRC18	NM_001080495.3(TNRC18):c.7573C>G:p.Leu2525Val	coding	Benign
7	5313430	C	T	C5313430T	TNRC18	NM_001080495.3(TNRC18):c.7461G>A:p.Pro2487=	coding	Benign
7	5313621	G	C	G5313621C	TNRC18	NM_001080495.3(TNRC18):c.7270C>G:p.Pro2424Ala	coding	Benign
7	5313622	G	T	G5313622T	TNRC18	NM_001080495.3(TNRC18):c.7269C>A:p.Ala2423=	coding	Benign
7	5313713	G	A	G5313713A	TNRC18	NM_001080495.3(TNRC18):c.7178C>T:p.Pro2393Leu	coding	Benign
7	5314045	C	T	C5314045T	TNRC18	NM_001080495.3(TNRC18):c.7028-182G>A	noncoding	Benign
7	5314074	T	G	T5314074G	TNRC18	NM_001080495.3(TNRC18):c.7028-211A>C	noncoding	Benign
7	5314869	G	A	G5314869A	TNRC18	NM_001080495.3(TNRC18):c.7027+115C>T	noncoding	Benign
7	5315243	C	T	C5315243T	TNRC18	NM_001080495.3(TNRC18):c.6863-95G>A	noncoding	Benign
7	5316217	C	T	C5316217T	TNRC18	NM_001080495.3(TNRC18):c.6746-145G>A	noncoding	Benign
7	5316310	G	A	G5316310A	TNRC18	NM_001080495.3(TNRC18):c.6746-238C>T	noncoding	Benign
7	5320285	C	T	C5320285T	TNRC18	NM_001080495.3(TNRC18):c.6745+33G>A	noncoding	Benign
7	5320811	C	A	C5320811A	TNRC18	NM_001080495.3(TNRC18):c.6561-204G>T	noncoding	Benign
7	5321335	C	T	C5321335T	TNRC18	NM_001080495.3(TNRC18):c.6443-145G>A	noncoding	Benign
7	5324350	G	A	G5324350A	TNRC18	NM_001080495.3(TNRC18):c.6306C>T:p.Arg2102=	coding	Benign
7	5324410	G	A	G5324410A	TNRC18	NM_001080495.3(TNRC18):c.6301-55C>T	noncoding	Benign
7	5325014	G	C	G5325014C	TNRC18	NM_001080495.3(TNRC18):c.6300+82C>G	noncoding	Benign
7	5325350	C	T	C5325350T	TNRC18	NM_001080495.3(TNRC18):c.6148-102G>A	noncoding	Benign
7	5325404	G	A	G5325404A	TNRC18	NM_001080495.3(TNRC18):c.6148-156C>T	noncoding	Benign
7	5332495	G	A	G5332495A	TNRC18	NM_001080495.3(TNRC18):c.6147+127C>T	noncoding	Benign
7	5332775	G	T	G5332775T	TNRC18	NM_001080495.3(TNRC18):c.5994C>A:p.Arg1998=	coding	Benign
7	5346013	C	T	C5346013T	TNRC18	NM_001080495.3(TNRC18):c.5471-203G>A	noncoding	Benign
7	5351616	A	T	A5351616T	TNRC18	NM_001080495.3(TNRC18):c.5470+203T>A	noncoding	Benign
7	5351617	A	T	A5351617T	TNRC18	NM_001080495.3(TNRC18):c.5470+202T>A	noncoding	Benign
7	5352071	C	G	C5352071G	TNRC18	NM_001080495.3(TNRC18):c.5218G>C:p.Glu1740Gln	coding	Benign
7	5356830	C	G	C5356830G	TNRC18	NM_001080495.3(TNRC18):c.5194+86G>C	noncoding	Benign
7	5356848	G	A	G5356848A	TNRC18	NM_001080495.3(TNRC18):c.5194+68C>T	noncoding	Benign
7	5357084	T	C	T5357084C	TNRC18	NM_001080495.3(TNRC18):c.5026A>G:p.Asn1676Asp	coding	Benign
7	5357324	A	G	A5357324G	TNRC18	NM_001080495.3(TNRC18):c.4834-48T>C	noncoding	Benign
7	5359271	T	C	T5359271C	TNRC18	NM_001080495.3(TNRC18):c.4833+127A>G	noncoding	Benign
7	5359413	C	G	C5359413G	TNRC18	NM_001080495.3(TNRC18):c.4818G>C:p.Ser1606=	coding	Benign
7	5361781	G	A	G5361781A	TNRC18	NM_001080495.3(TNRC18):c.4533-59C>T	noncoding	Benign
7	5361788	C	G	C5361788G	TNRC18	NM_001080495.3(TNRC18):c.4533-66G>C	noncoding	Benign
7	5362975	G	A	G5362975A	TNRC18	NM_001080495.3(TNRC18):c.4220-150C>T	noncoding	Benign
7	5370794	G	C	G5370794C	TNRC18	NM_001080495.3(TNRC18):c.3800C>G:p.Ala1267Gly	coding	Benign
7	5371273	C	G	C5371273G	TNRC18	NM_001080495.3(TNRC18):c.3321G>C:p.Ala1107=	coding	Benign
7	5371285	G	C	G5371285C	TNRC18	NM_001080495.3(TNRC18):c.3309C>G:p.Ala1103=	coding	Benign
7	5376243	T	C	T5376243C	TNRC18	NM_001080495.3(TNRC18):c.2609-19A>G	noncoding	Benign
7	5376246	G	A	G5376246A	TNRC18	NM_001080495.3(TNRC18):c.2609-22C>T	noncoding	Benign
7	5377462	G	T	G5377462T	TNRC18	NM_001080495.3(TNRC18):c.2370C>A:p.Arg790=	coding	Benign
7	5377790	A	G	A5377790G	TNRC18	NM_001080495.3(TNRC18):c.2255+132T>C	noncoding	Benign
7	5377978	G	A	G5377978A	TNRC18	NM_001080495.3(TNRC18):c.2199C>T:p.His733=	coding	Benign
7	5387497	G	A	G5387497A	TNRC18	NM_001080495.3(TNRC18):c.2152+175C>T	noncoding	Benign
7	5387886	G	A	G5387886A	TNRC18	NM_001080495.3(TNRC18):c.1938C>T:p.Gly646=	coding	Benign
7	5388021	G	A	G5388021A	TNRC18	NM_001080495.3(TNRC18):c.1803C>T:p.Ala601=	coding	Benign
7	5388319	G	A	G5388319A	TNRC18	NM_001080495.3(TNRC18):c.1505C>T:p.Pro502Leu	coding	Benign
7	5389011	G	A	G5389011A	TNRC18	NM_001080495.3(TNRC18):c.813C>T:p.Thr271=	coding	Benign
7	5390380	G	A	G5390380A	TNRC18	NM_001080495.3(TNRC18):c.487+105C>T	noncoding	Benign
7	5390652	G	A	G5390652A	TNRC18	NM_001080495.3(TNRC18):c.344-24C>T	noncoding	Benign
7	5390744	T	C	T5390744C	TNRC18	NM_001080495.3(TNRC18):c.344-116A>G	noncoding	Benign
7	5390757	C	T	C5390757T	TNRC18	NM_001080495.3(TNRC18):c.344-129G>A	noncoding	Benign
7	5390838	G	A	G5390838A	TNRC18	NM_001080495.3(TNRC18):c.344-210C>T	noncoding	Benign
7	5390840	T	A	T5390840A	TNRC18	NM_001080495.3(TNRC18):c.344-212A>T	noncoding	Benign
7	5390842	T	C	T5390842C	TNRC18	NM_001080495.3(TNRC18):c.344-214A>G	noncoding	Benign
7	5394504	A	G	A5394504G	TNRC18	NM_001080495.3(TNRC18):c.279T>C:p.Ser93=	coding	Benign
7	5420919	C	T	C5420919T	TNRC18	NM_001080495.3(TNRC18):c.187+141G>A	noncoding	Benign
7	5527481	C	T	C5527481T	ACTB	NM_001101.5(ACTB):c.*267G>A	noncoding	Benign
7	5527623	C	A	C5527623A	ACTB	NM_001101.5(ACTB):c.*125G>T	noncoding	Benign
7	5527769	G	A	G5527769A	ACTB	NM_001101.5(ACTB):c.1107C>T:p.Ile369=	coding	Benign/Likely_benign
7	5527835	G	A	G5527835A	ACTB	NM_001101.5(ACTB):c.1041C>T:p.Ala347=	coding	Benign
7	5527900	G	A	G5527900A	ACTB	NM_001101.5(ACTB):c.985-9C>T	noncoding	Benign
7	5527929	T	C	T5527929C	ACTB	NM_001101.5(ACTB):c.985-38A>G	noncoding	Benign
7	5527989	A	G	A5527989G	ACTB	NM_001101.5(ACTB):c.984+15T>C	noncoding	Benign
7	5528162	C	T	C5528162T	ACTB	NM_001101.5(ACTB):c.826G>A:p.Glu276Lys	coding	Pathogenic/Likely_pathogenic
7	5528211	T	G	T5528211G	ACTB	NM_001101.5(ACTB):c.803-26A>C	noncoding	Benign
7	5528222	G	A	G5528222A	ACTB	NM_001101.5(ACTB):c.803-37C>T	noncoding	Benign
7	5528223	C	T	C5528223T	ACTB	NM_001101.5(ACTB):c.803-38G>A	noncoding	Benign
7	5528381	G	A	G5528381A	ACTB	NM_001101.5(ACTB):c.702C>T:p.Ser234=	coding	Benign
7	5528441	C	T	C5528441T	ACTB	NM_001101.5(ACTB):c.642G>A:p.Glu214=	coding	Benign
7	5528599	T	C	T5528599C	ACTB	NM_001101.5(ACTB):c.484A>G:p.Thr162Ala	coding	Pathogenic
7	5528644	G	A	G5528644A	ACTB	NM_001101.5(ACTB):c.439C>T:p.Arg147Cys	coding	Pathogenic
7	5528750	G	A	G5528750A	ACTB	NM_001101.5(ACTB):c.364-31C>T	noncoding	Benign
7	5528757	C	A	C5528757A	ACTB	NM_001101.5(ACTB):c.364-38G>T	noncoding	Benign
7	5528862	A	G	A5528862G	ACTB	NM_001101.5(ACTB):c.364-143T>C	noncoding	Benign
7	5529082	G	A	G5529082A	ACTB	NM_001101.5(ACTB):c.363+79C>T	noncoding	Benign
7	5529082	G	C	G5529082C	ACTB	NM_001101.5(ACTB):c.363+79C>G	noncoding	Benign
7	5529099	C	A	C5529099A	ACTB	NM_001101.5(ACTB):c.363+62G>T	noncoding	Benign
7	5529118	G	A	G5529118A	ACTB	NM_001101.5(ACTB):c.363+43C>T	noncoding	Benign
7	5529131	G	C	G5529131C	ACTB	NM_001101.5(ACTB):c.363+30C>G	noncoding	Benign
7	5529209	C	G	C5529209G	ACTB	NM_001101.5(ACTB):c.315G>C:p.Leu105=	coding	Benign
7	5529307	G	A	G5529307A	ACTB	NM_001101.5(ACTB):c.217C>T:p.His73Tyr	coding	Pathogenic/Likely_pathogenic
7	5529315	G	A	G5529315A	ACTB	NM_001101.5(ACTB):c.209C>T:p.Pro70Leu	coding	Pathogenic/Likely_pathogenic
7	5529383	C	T	C5529383T	ACTB	NM_001101.5(ACTB):c.141G>A:p.Met47Ile	coding	Pathogenic
7	5529562	G	A	G5529562A	ACTB	NM_001101.5(ACTB):c.96C>T:p.Pro32=	coding	Benign/Likely_benign
7	5529792	G	C	G5529792C	ACTB	NM_001101.5(ACTB):c.-6-129C>G	noncoding	Benign
7	5623040	G	A	G5623040A	RNF216	NM_207111.4(RNF216):c.2592C>T:p.Phe864=	coding	Benign
7	5652423	G	A	G5652423A	RNF216	NM_207111.4(RNF216):c.2149C>T:p.Arg717Cys	coding	Pathogenic
7	5712876	G	A	G5712876A	RNF216	NM_207111.4(RNF216):c.1834-13C>T	noncoding	Benign
7	5716730	C	A	C5716730A	RNF216	NM_207111.4(RNF216):c.1681G>T:p.Glu561Ter	coding	Pathogenic
7	5721185	C	T	C5721185T	RNF216	NM_207111.4(RNF216):c.1505-13G>A	noncoding	Benign
7	5729519	G	A	G5729519A	RNF216	NM_207111.4(RNF216):c.1302C>T:p.Leu434=	coding	Benign
7	5741379	C	G	C5741379G	RNF216	NM_207111.4(RNF216):c.638G>C:p.Gly213Ala	coding	Benign
7	5973429	G	A	G5973429A	PMS2	NM_000535.7(PMS2):c.2559C>T:p.Ile853=	coding	Benign/Likely_benign
7	5973450	T	C	T5973450C	PMS2	NM_000535.7(PMS2):c.2538A>G:p.Gly846=	coding	Benign/Likely_benign
7	5973512	C	A	C5973512A	PMS2	NM_000535.7(PMS2):c.2476G>T:p.Glu826Ter	coding	Pathogenic
7	5977577	T	G	T5977577G	PMS2	NM_000535.7(PMS2):c.2445+11A>C	noncoding	Benign/Likely_benign
7	5977675	C	G	C5977675G	PMS2	NM_000535.7(PMS2):c.2358G>C:p.Leu786=	coding	Benign/Likely_benign
7	5977692	G	A	G5977692A	PMS2	NM_000535.7(PMS2):c.2341C>T:p.Gln781Ter	coding	Pathogenic
7	5978554	A	G	A5978554G	PMS2	NM_000535.7(PMS2):c.2275+42T>C	noncoding	Benign
7	5978571	G	A	G5978571A	PMS2	NM_000535.7(PMS2):c.2275+25C>T	noncoding	Benign
7	5978594	A	G	A5978594G	PMS2	NM_000535.7(PMS2):c.2275+2T>C	noncoding	Pathogenic/Likely_pathogenic
7	5978650	C	A	C5978650A	PMS2	NM_000535.7(PMS2):c.2221G>T:p.Glu741Ter	coding	Pathogenic
7	5978665	C	A	C5978665A	PMS2	NM_000535.7(PMS2):c.2206G>T:p.Glu736Ter	coding	Pathogenic
7	5978692	G	A	G5978692A	PMS2	NM_000535.7(PMS2):c.2179C>T:p.Gln727Ter	coding	Pathogenic
7	5978813	A	G	A5978813G	PMS2	NM_000535.7(PMS2):c.2175-117T>C	noncoding	Benign
7	5981719	G	A	G5981719A	PMS2	NM_000535.7(PMS2):c.2174+1105C>T	noncoding	Benign
7	5982822	A	C	A5982822C	PMS2	NM_000535.7(PMS2):c.2174+2T>G	noncoding	Pathogenic
7	5982870	C	A	C5982870A	PMS2	NM_000535.7(PMS2):c.2128G>T:p.Glu710Ter	coding	Pathogenic
7	5982877	A	C	A5982877C	PMS2	NM_000535.7(PMS2):c.2121T>G:p.Tyr707Ter	coding	Pathogenic
7	5982913	G	A	G5982913A	PMS2	NM_000535.7(PMS2):c.2085C>T:p.Ile695=	coding	Benign/Likely_benign
7	5982930	T	A	T5982930A	PMS2	NM_000535.7(PMS2):c.2068A>T:p.Lys690Ter	coding	Pathogenic
7	5982969	C	A	C5982969A	PMS2	NM_000535.7(PMS2):c.2029G>T:p.Glu677Ter	coding	Pathogenic
7	5986766	C	A	C5986766A	PMS2	NM_000535.7(PMS2):c.1999G>T:p.Glu667Ter	coding	Pathogenic
7	5986793	G	A	G5986793A	PMS2	NM_000535.7(PMS2):c.1972C>T:p.Gln658Ter	coding	Pathogenic
7	5986821	A	G	A5986821G	PMS2	NM_000535.7(PMS2):c.1944T>C:p.Phe648=	coding	Benign/Likely_benign
7	5986847	C	A	C5986847A	PMS2	NM_000535.7(PMS2):c.1918G>T:p.Glu640Ter	coding	Pathogenic
7	5986870	A	C	A5986870C	PMS2	NM_000535.7(PMS2):c.1895T>G:p.Leu632Ter	coding	Pathogenic
7	5986984	A	T	A5986984T	PMS2	NM_000535.7(PMS2):c.1781T>A:p.Leu594Ter	coding	Pathogenic
7	5986988	T	A	T5986988A	PMS2	NM_000535.7(PMS2):c.1777A>T:p.Lys593Ter	coding	Pathogenic
7	5987090	C	A	C5987090A	PMS2	NM_000535.7(PMS2):c.1675G>T:p.Gly559Ter	coding	Pathogenic
7	5987091	G	A	G5987091A	PMS2	NM_000535.7(PMS2):c.1674C>T:p.Thr558=	coding	Benign/Likely_benign
7	5987102	G	A	G5987102A	PMS2	NM_000535.7(PMS2):c.1663C>T:p.Gln555Ter	coding	Pathogenic
7	5987107	G	C	G5987107C	PMS2	NM_000535.7(PMS2):c.1658C>G:p.Ser553Ter	coding	Pathogenic
7	5987125	G	C	G5987125C	PMS2	NM_000535.7(PMS2):c.1640C>G:p.Ser547Ter	coding	Pathogenic
7	5987156	C	A	C5987156A	PMS2	NM_000535.7(PMS2):c.1609G>T:p.Glu537Ter	coding	Pathogenic
7	5987177	G	A	G5987177A	PMS2	NM_000535.7(PMS2):c.1588C>T:p.Gln530Ter	coding	Pathogenic
7	5987208	A	C	A5987208C	PMS2	NM_000535.7(PMS2):c.1557T>G:p.Tyr519Ter	coding	Pathogenic
7	5987213	C	A	C5987213A	PMS2	NM_000535.7(PMS2):c.1552G>T:p.Glu518Ter	coding	Pathogenic
7	5987397	A	G	A5987397G	PMS2	NM_000535.7(PMS2):c.1368T>C:p.Ser456=	coding	Benign/Likely_benign
7	5987444	C	A	C5987444A	PMS2	NM_000535.7(PMS2):c.1321G>T:p.Glu441Ter	coding	Pathogenic
7	5987534	C	A	C5987534A	PMS2	NM_000535.7(PMS2):c.1231G>T:p.Glu411Ter	coding	Pathogenic
7	5987561	G	A	G5987561A	PMS2	NM_000535.7(PMS2):c.1204C>T:p.Gln402Ter	coding	Pathogenic
7	5987568	C	T	C5987568T	PMS2	NM_000535.7(PMS2):c.1197G>A:p.Lys399=	coding	Benign/Likely_benign
7	5987573	C	A	C5987573A	PMS2	NM_000535.7(PMS2):c.1192G>T:p.Glu398Ter	coding	Pathogenic
7	5987598	T	C	T5987598C	PMS2	NM_000535.7(PMS2):c.1167A>G:p.Ala389=	coding	Benign/Likely_benign
7	5987609	T	A	T5987609A	PMS2	NM_000535.7(PMS2):c.1156A>T:p.Lys386Ter	coding	Pathogenic
7	5987631	G	A	G5987631A	PMS2	NM_000535.7(PMS2):c.1145-11C>T	noncoding	Benign/Likely_benign
7	5989920	G	A	G5989920A	PMS2	NM_000535.7(PMS2):c.1024C>T:p.Gln342Ter	coding	Pathogenic
7	5989951	G	T	G5989951T	PMS2	NM_000535.7(PMS2):c.993C>A:p.Cys331Ter	coding	Pathogenic
7	5991972	C	G	C5991972G	PMS2	NM_000535.7(PMS2):c.988+1G>C	noncoding	Pathogenic/Likely_pathogenic
7	5992007	A	T	A5992007T	PMS2	NM_000535.7(PMS2):c.954T>A:p.Tyr318Ter	coding	Pathogenic
7	5992031	G	T	G5992031T	PMS2	NM_000535.7(PMS2):c.930C>A:p.Tyr310Ter	coding	Pathogenic
7	5992074	G	T	G5992074T	PMS2	NM_000535.7(PMS2):c.904-17C>A	noncoding	Benign/Likely_benign
7	5995533	C	G	C5995533G	PMS2	NM_000535.7(PMS2):c.903+1G>C	noncoding	Pathogenic/Likely_pathogenic
7	5995534	C	T	C5995534T	PMS2	NM_000535.7(PMS2):c.903G>A:p.Lys301=	coding	Pathogenic/Likely_pathogenic
7	5995578	T	A	T5995578A	PMS2	NM_000535.7(PMS2):c.859A>T:p.Arg287Ter	coding	Pathogenic
7	5995612	T	C	T5995612C	PMS2	NM_000535.7(PMS2):c.825A>G:p.Gln275=	coding	Pathogenic/Likely_pathogenic
7	5995616	G	C	G5995616C	PMS2	NM_000535.7(PMS2):c.821C>G:p.Ser274Ter	coding	Pathogenic
7	5995634	C	A	C5995634A	PMS2	NM_000535.7(PMS2):c.804-1G>T	coding	Pathogenic
7	5997307	T	C	T5997307C	PMS2	NM_000535.7(PMS2):c.803+19A>G	noncoding	Benign/Likely_benign
7	5997324	A	C	A5997324C	PMS2	NM_000535.7(PMS2):c.803+2T>G	noncoding	Pathogenic
7	5997324	A	T	A5997324T	PMS2	NM_000535.7(PMS2):c.803+2T>A	noncoding	Pathogenic
7	5997369	C	A	C5997369A	PMS2	NM_000535.7(PMS2):c.760G>T:p.Glu254Ter	coding	Pathogenic
7	5999106	A	G	A5999106G	PMS2	NM_000535.7(PMS2):c.705+2T>C	noncoding	Pathogenic/Likely_pathogenic
7	5999107	C	T	C5999107T	PMS2	NM_000535.7(PMS2):c.705+1G>A	noncoding	Pathogenic/Likely_pathogenic
7	5999113	T	A	T5999113A	PMS2	NM_000535.7(PMS2):c.700A>T:p.Lys234Ter	coding	Pathogenic
7	5999132	G	A	G5999132A	PMS2	NM_000535.7(PMS2):c.681C>T:p.Ile227=	coding	Benign/Likely_benign
7	5999132	G	T	G5999132T	PMS2	NM_000535.7(PMS2):c.681C>A:p.Ile227=	coding	Benign/Likely_benign
7	5999140	C	A	C5999140A	PMS2	NM_000535.7(PMS2):c.673G>T:p.Glu225Ter	coding	Pathogenic
7	5999183	T	C	T5999183C	PMS2	NM_000535.7(PMS2):c.630A>G:p.Lys210=	coding	Benign/Likely_benign
7	5999188	C	A	C5999188A	PMS2	NM_000535.7(PMS2):c.625G>T:p.Gly209Ter	coding	Pathogenic
7	5999257	G	A	G5999257A	PMS2	NM_000535.7(PMS2):c.556C>T:p.Gln186Ter	coding	Pathogenic
7	5999270	A	C	A5999270C	PMS2	NM_000535.7(PMS2):c.543T>G:p.Tyr181Ter	coding	Pathogenic
7	5999275	C	A	C5999275A	PMS2	NM_000535.7(PMS2):c.538G>T:p.Glu180Ter	coding	Pathogenic
7	6002266	T	C	T6002266C	PMS2	NM_000535.7(PMS2):c.537+187A>G	noncoding	Benign
7	6002476	C	A	C6002476A	PMS2	NM_000535.7(PMS2):c.514G>T:p.Glu172Ter	coding	Pathogenic
7	6002516	G	A	G6002516A	PMS2	NM_000535.7(PMS2):c.474C>T:p.Ser158=	coding	Benign/Likely_benign
7	6002557	G	A	G6002557A	PMS2	NM_000535.7(PMS2):c.433C>T:p.Gln145Ter	coding	Pathogenic
7	6003689	C	T	C6003689T	PMS2	NM_000535.7(PMS2):c.353+1G>A	noncoding	Pathogenic/Likely_pathogenic
7	6003705	G	C	G6003705C	PMS2	NM_000535.7(PMS2):c.338C>G:p.Ser113Ter	coding	Pathogenic
7	6003718	C	A	C6003718A	PMS2	NM_000535.7(PMS2):c.325G>T:p.Glu109Ter	coding	Pathogenic
7	6003739	C	A	C6003739A	PMS2	NM_000535.7(PMS2):c.304G>T:p.Glu102Ter	coding	Pathogenic
7	6003793	C	A	C6003793A	PMS2	NM_000535.7(PMS2):c.251-1G>T	coding	Pathogenic/Likely_pathogenic
7	6003793	C	T	C6003793T	PMS2	NM_000535.7(PMS2):c.251-1G>A	coding	Pathogenic
7	6003805	G	A	G6003805A	PMS2	NM_000535.7(PMS2):c.251-13C>T	noncoding	Benign/Likely_benign
7	6003990	C	A	C6003990A	PMS2	NM_000535.7(PMS2):c.232G>T:p.Glu78Ter	coding	Pathogenic
7	6004002	C	G	C6004002G	PMS2	NM_000535.7(PMS2):c.220G>C:p.Gly74Arg	coding	Pathogenic/Likely_pathogenic
7	6004059	C	G	C6004059G	PMS2	NM_000535.7(PMS2):c.164-1G>C	coding	Pathogenic/Likely_pathogenic
7	6005891	C	T	C6005891T	PMS2	NM_000535.7(PMS2):c.163+1G>A	noncoding	Pathogenic/Likely_pathogenic
7	6005925	C	A	C6005925A	PMS2	NM_000535.7(PMS2):c.130G>T:p.Glu44Ter	coding	Pathogenic
7	6005930	A	C	A6005930C	PMS2	NM_000535.7(PMS2):c.125T>G:p.Leu42Ter	coding	Pathogenic
7	6005958	G	A	G6005958A	PMS2	NM_000535.7(PMS2):c.97C>T:p.Leu33=	coding	Benign/Likely_benign
7	6005974	G	T	G6005974T	PMS2	NM_000535.7(PMS2):c.81C>A:p.Cys27Ter	coding	Pathogenic
7	6006027	C	A	C6006027A	PMS2	NM_000535.7(PMS2):c.28G>T:p.Glu10Ter	coding	Pathogenic
7	6006032	C	T	C6006032T	PMS2	NM_000535.7(PMS2):c.24-1G>A	coding	Pathogenic/Likely_pathogenic
7	6008925	G	A	G6008925A	PMS2	NM_000535.7(PMS2):c.23+72C>T	noncoding	Benign
7	6009008	A	C	A6009008C	PMS2	NM_000535.7(PMS2):c.12T>G:p.Ala4=	coding	Benign/Likely_benign
7	6009016	C	A	C6009016A	PMS2	NM_000535.7(PMS2):c.4G>T:p.Glu2Ter	coding	Pathogenic
7	6009394	G	C	G6009394C	AIMP2	NM_006303.4(AIMP2):c.31G>C:p.Gly11Arg	coding	Benign
7	6009420	G	A	G6009420A	AIMP2	NM_006303.4(AIMP2):c.57G>A:p.Glu19=	coding	Benign
7	6009472	C	G	C6009472G	AIMP2	NM_006303.4(AIMP2):c.109C>G:p.Pro37Ala	coding	Benign
7	6015136	G	C	G6015136C	AIMP2	NM_006303.4(AIMP2):c.136-10G>C	noncoding	Benign
7	6015356	G	A	G6015356A	AIMP2	NM_006303.4(AIMP2):c.342+4G>A	noncoding	Benign
7	6023652	C	T	C6023652T	AIMP2	NM_006303.4(AIMP2):c.924C>T:p.Asn308=	coding	Benign
7	6387310	C	T	C6387310T	RAC1	NM_006908.5(RAC1):c.107+27C>T	noncoding	Benign
7	6392034	C	T	C6392034T	RAC1	NM_006908.5(RAC1):c.218C>T:p.Pro73Leu	coding	Pathogenic/Likely_pathogenic
7	6392059	C	T	C6392059T	RAC1	NM_006908.5(RAC1):c.225+18C>T	noncoding	Benign
7	6466190	T	C	T6466190C	KDELR2	NM_006854.4(KDELR2):c.485A>G:p.Tyr162Cys	coding	Pathogenic
7	6466270	T	C	T6466270C	KDELR2	NM_006854.4(KDELR2):c.405A>G:p.Leu135=	coding	Benign
7	6466277	G	A	G6466277A	KDELR2	NM_006854.4(KDELR2):c.398C>T:p.Pro133Leu	coding	Pathogenic
7	6466315	C	T	C6466315T	KDELR2	NM_006854.4(KDELR2):c.360G>A:p.Trp120Ter	coding	Pathogenic
7	6474148	T	C	T6474148C	KDELR2	NM_006854.4(KDELR2):c.192+36A>G	noncoding	Benign
7	6484045	G	A	G6484045A	KDELR2	NM_006854.4(KDELR2):c.13C>T:p.Arg5Trp	coding	Pathogenic
7	6484193	C	T	C6484193T	KDELR2	Single_allele	noncoding	Benign
7	6484383	T	C	T6484383C	KDELR2	Single_allele	noncoding	Benign
7	10933735	C	T	C10933735T	NDUFA4	NM_002489.4(NDUFA4):c.190-43G>A	noncoding	Benign
7	10938003	G	A	G10938003A	NDUFA4	NM_002489.4(NDUFA4):c.189+87C>T	noncoding	Benign
7	10939809	C	T	C10939809T	NDUFA4	NM_002489.4(NDUFA4):c.42+207G>A	noncoding	Benign
7	10940291	C	A	C10940291A	NDUFA4	Single_allele	noncoding	Benign
7	12224345	G	A	G12224345A	TMEM106B	NM_001134232.2(TMEM106B):c.401G>A:p.Ser134Asn	coding	Benign
7	12229791	C	G	C12229791G	TMEM106B	NM_001134232.2(TMEM106B):c.554C>G:p.Thr185Ser	coding	Benign
7	12231144	T	A	T12231144A	TMEM106B	NM_001134232.2(TMEM106B):c.686+29T>A	noncoding	Benign
7	12231826	A	G	A12231826G	TMEM106B	NM_001134232.2(TMEM106B):c.687-11A>G	noncoding	Benign
7	12231904	G	A	G12231904A	TMEM106B	NM_001134232.2(TMEM106B):c.754G>A:p.Asp252Asn	coding	Pathogenic/Likely_pathogenic
7	12231927	T	C	T12231927C	TMEM106B	NM_001134232.2(TMEM106B):c.777T>C:p.Tyr259=	coding	Benign
7	15385509	T	C	T15385509C	AGMO	NM_001004320.2(AGMO):c.1011A>G:p.Ile337Met	coding	Benign
7	15418561	T	C	T15418561C	AGMO	NM_001004320.2(AGMO):c.606A>G:p.Thr202=	coding	Benign
7	15418569	T	A	T15418569A	AGMO	NM_001004320.2(AGMO):c.598A>T:p.Ile200Phe	coding	Benign
7	16216050	T	A	T16216050A	CRPPA	NM_001101426.4(CRPPA):c.1251+16A>T	noncoding	Benign/Likely_benign
7	16301194	T	C	T16301194C	CRPPA	NM_001101426.4(CRPPA):c.835+227A>G	noncoding	Benign
7	16301419	A	G	A16301419G	CRPPA	NM_001101426.4(CRPPA):c.835+2T>C	noncoding	Pathogenic/Likely_pathogenic
7	16301467	C	G	C16301467G	CRPPA	NM_001101426.4(CRPPA):c.790-1G>C	coding	Pathogenic
7	16301480	A	G	A16301480G	CRPPA	NM_001101426.4(CRPPA):c.790-14T>C	noncoding	Benign/Likely_benign
7	16308406	A	T	A16308406T	CRPPA	NM_001101426.4(CRPPA):c.789+117T>A	noncoding	Benign
7	16376226	G	A	G16376226A	CRPPA	NM_001101426.4(CRPPA):c.550C>T:p.Arg184Ter	coding	Pathogenic
7	16420910	T	C	T16420910C	CRPPA	NM_001101426.4(CRPPA):c.257+156A>G	noncoding	Benign
7	16421101	C	T	C16421101T	CRPPA	NM_001101426.4(CRPPA):c.222G>A:p.Arg74=	coding	Benign/Likely_benign
7	17310002	T	C	T17310002C	AHR	NM_001621.5(AHR):c.132T>C:p.Asn44=	coding	Benign
7	17334929	G	A	G17334929A	AHR	NM_001621.5(AHR):c.951G>A:p.Thr317=	coding	Benign
7	17339293	A	G	A17339293G	AHR	NM_001621.5(AHR):c.1468A>G:p.Met490Val	coding	Benign
7	17339474	T	C	T17339474C	AHR	NM_001621.5(AHR):c.1649T>C:p.Phe550Ser	coding	Benign
7	17339486	G	A	G17339486A	AHR	NM_001621.5(AHR):c.1661G>A:p.Arg554Lys	coding	Benign
7	18975715	A	C	A18975715C	HDAC9	NM_178425.4(HDAC9):c.3023-91A>C	noncoding	Benign
7	19116526	C	A	C19116526A	TWIST1	NM_000474.4(TWIST1):c.*42+145G>T	noncoding	Benign
7	19116735	C	T	C19116735T	TWIST1	NM_000474.4(TWIST1):c.587G>A:p.Trp196Ter	coding	Pathogenic
7	19116855	A	C	A19116855C	TWIST1	NM_000474.4(TWIST1):c.467T>G:p.Ile156Ser	coding	Pathogenic
7	19116876	A	C	A19116876C	TWIST1	NM_000474.4(TWIST1):c.446T>G:p.Leu149Arg	coding	Pathogenic
7	19116973	C	A	C19116973A	TWIST1	NM_000474.4(TWIST1):c.349G>T:p.Glu117Ter	coding	Pathogenic
7	19116992	C	T	C19116992T	TWIST1	NM_000474.4(TWIST1):c.330G>A:p.Arg110=	coding	Benign
7	19117012	C	A	C19117012A	TWIST1	NM_000474.4(TWIST1):c.310G>T:p.Glu104Ter	coding	Pathogenic
7	21542898	C	T	C21542898T	DNAH11	Single_allele	noncoding	Benign
7	21543110	T	G	T21543110G	DNAH11	NM_001277115.2(DNAH11):c.-136T>G	noncoding	Benign
7	21543428	C	T	C21543428T	DNAH11	NM_001277115.2(DNAH11):c.183C>T:p.Phe61=	coding	Benign
7	21543591	C	T	C21543591T	DNAH11	NM_001277115.2(DNAH11):c.346C>T:p.Gln116Ter	coding	Pathogenic
7	21543664	T	G	T21543664G	DNAH11	NM_001277115.2(DNAH11):c.351+68T>G	noncoding	Benign
7	21543711	T	C	T21543711C	DNAH11	NM_001277115.2(DNAH11):c.351+115T>C	noncoding	Benign
7	21543901	C	A	C21543901A	DNAH11	NM_001277115.2(DNAH11):c.351+305C>A	noncoding	Benign
7	21544764	C	T	C21544764T	DNAH11	NM_001277115.2(DNAH11):c.352-242C>T	noncoding	Benign
7	21544814	A	G	A21544814G	DNAH11	NM_001277115.2(DNAH11):c.352-192A>G	noncoding	Benign
7	21545202	A	G	A21545202G	DNAH11	NM_001277115.2(DNAH11):c.495+53A>G	noncoding	Benign
7	21545473	T	C	T21545473C	DNAH11	NM_001277115.2(DNAH11):c.495+324T>C	noncoding	Benign
7	21558636	T	C	T21558636C	DNAH11	NM_001277115.2(DNAH11):c.496-166T>C	noncoding	Benign
7	21559135	G	C	G21559135C	DNAH11	NM_001277115.2(DNAH11):c.692+137G>C	noncoding	Benign
7	21561284	A	G	A21561284G	DNAH11	NM_001277115.2(DNAH11):c.982+114A>G	noncoding	Benign
7	21563916	T	C	T21563916C	DNAH11	NM_001277115.2(DNAH11):c.983-270T>C	noncoding	Benign
7	21563983	G	A	G21563983A	DNAH11	NM_001277115.2(DNAH11):c.983-203G>A	noncoding	Benign
7	21564060	A	G	A21564060G	DNAH11	NM_001277115.2(DNAH11):c.983-126A>G	noncoding	Benign
7	21569802	A	G	A21569802G	DNAH11	NM_001277115.2(DNAH11):c.1195-267A>G	noncoding	Benign
7	21570005	G	A	G21570005A	DNAH11	NM_001277115.2(DNAH11):c.1195-64G>A	noncoding	Benign
7	21570007	C	T	C21570007T	DNAH11	NM_001277115.2(DNAH11):c.1195-62C>T	noncoding	Benign
7	21570121	C	A	C21570121A	DNAH11	NM_001277115.2(DNAH11):c.1247C>A:p.Ser416Ter	coding	Pathogenic
7	21571781	G	C	G21571781C	DNAH11	NM_001277115.2(DNAH11):c.1426-25G>C	noncoding	Benign
7	21572001	G	T	G21572001T	DNAH11	NM_001277115.2(DNAH11):c.1593+28G>T	noncoding	Benign
7	21572008	A	G	A21572008G	DNAH11	NM_001277115.2(DNAH11):c.1593+35A>G	noncoding	Benign
7	21572188	T	G	T21572188G	DNAH11	NM_001277115.2(DNAH11):c.1593+215T>G	noncoding	Benign
7	21581768	T	A	T21581768A	DNAH11	NM_001277115.2(DNAH11):c.1594-137T>A	noncoding	Benign
7	21582347	A	G	A21582347G	DNAH11	NM_001277115.2(DNAH11):c.1710+326A>G	noncoding	Benign
7	21588291	A	G	A21588291G	DNAH11	NM_001277115.2(DNAH11):c.1848+90A>G	noncoding	Benign
7	21589067	C	G	C21589067G	DNAH11	NM_001277115.2(DNAH11):c.1974-141C>G	noncoding	Benign
7	21590665	A	G	A21590665G	DNAH11	NM_001277115.2(DNAH11):c.2170-253A>G	noncoding	Benign
7	21590906	G	A	G21590906A	DNAH11	NM_001277115.2(DNAH11):c.2170-12G>A	noncoding	Benign
7	21591316	G	A	G21591316A	DNAH11	NM_001277115.2(DNAH11):c.2406G>A:p.Trp802Ter	coding	Pathogenic
7	21600042	G	T	G21600042T	DNAH11	NM_001277115.2(DNAH11):c.2923G>T:p.Glu975Ter	coding	Pathogenic
7	21600084	C	T	C21600084T	DNAH11	NM_001277115.2(DNAH11):c.2965C>T:p.Arg989Ter	coding	Pathogenic
7	21600695	T	G	T21600695G	DNAH11	NM_001277115.2(DNAH11):c.3020T>G:p.Leu1007Ter	coding	Pathogenic
7	21600898	C	T	C21600898T	DNAH11	NM_001277115.2(DNAH11):c.3223C>T:p.Gln1075Ter	coding	Pathogenic
7	21600952	T	C	T21600952C	DNAH11	NM_001277115.2(DNAH11):c.3255+22T>C	noncoding	Benign
7	21601197	T	G	T21601197G	DNAH11	NM_001277115.2(DNAH11):c.3425+18T>G	noncoding	Benign
7	21601651	A	G	A21601651G	DNAH11	NM_001277115.2(DNAH11):c.3648+33A>G	noncoding	Benign
7	21606162	C	A	C21606162A	DNAH11	NM_001277115.2(DNAH11):c.3649-264C>A	noncoding	Benign
7	21606177	T	C	T21606177C	DNAH11	NM_001277115.2(DNAH11):c.3649-249T>C	noncoding	Benign
7	21614877	G	A	G21614877A	DNAH11	NM_001277115.2(DNAH11):c.3853-237G>A	noncoding	Benign
7	21614984	C	T	C21614984T	DNAH11	NM_001277115.2(DNAH11):c.3853-130C>T	noncoding	Benign
7	21615098	T	A	T21615098A	DNAH11	NM_001277115.2(DNAH11):c.3853-16T>A	noncoding	Benign/Likely_benign
7	21615098	T	C	T21615098C	DNAH11	NM_001277115.2(DNAH11):c.3853-16T>C	noncoding	Benign
7	21615131	G	C	G21615131C	DNAH11	NM_001277115.2(DNAH11):c.3870G>C:p.Glu1290Asp	coding	Benign/Likely_benign
7	21615162	G	T	G21615162T	DNAH11	NM_001277115.2(DNAH11):c.3901G>T:p.Glu1301Ter	coding	Pathogenic
7	21615352	A	G	A21615352G	DNAH11	NM_001277115.2(DNAH11):c.4011+80A>G	noncoding	Benign
7	21615563	A	G	A21615563G	DNAH11	NM_001277115.2(DNAH11):c.4011+291A>G	noncoding	Benign
7	21616049	T	C	T21616049C	DNAH11	NM_001277115.2(DNAH11):c.4012-160T>C	noncoding	Benign
7	21617365	C	A	C21617365A	DNAH11	NM_001277115.2(DNAH11):c.4096-254C>A	noncoding	Benign
7	21617453	G	A	G21617453A	DNAH11	NM_001277115.2(DNAH11):c.4096-166G>A	noncoding	Benign
7	21617493	A	G	A21617493G	DNAH11	NM_001277115.2(DNAH11):c.4096-126A>G	noncoding	Benign
7	21617512	C	G	C21617512G	DNAH11	NM_001277115.2(DNAH11):c.4096-107C>G	noncoding	Benign
7	21617567	A	G	A21617567G	DNAH11	NM_001277115.2(DNAH11):c.4096-52A>G	noncoding	Benign
7	21617782	G	C	G21617782C	DNAH11	NM_001277115.2(DNAH11):c.4254+5G>C	noncoding	Pathogenic
7	21617954	T	G	T21617954G	DNAH11	NM_001277115.2(DNAH11):c.4254+177T>G	noncoding	Benign
7	21618088	T	G	T21618088G	DNAH11	NM_001277115.2(DNAH11):c.4254+311T>G	noncoding	Benign
7	21618772	A	T	A21618772T	DNAH11	NM_001277115.2(DNAH11):c.4255-328A>T	noncoding	Benign
7	21618919	C	T	C21618919T	DNAH11	NM_001277115.2(DNAH11):c.4255-181C>T	noncoding	Benign
7	21619215	C	T	C21619215T	DNAH11	NM_001277115.2(DNAH11):c.4370C>T:p.Thr1457Ile	coding	Benign/Likely_benign
7	21619256	G	T	G21619256T	DNAH11	NM_001277115.2(DNAH11):c.4377+34G>T	noncoding	Benign
7	21619346	C	T	C21619346T	DNAH11	NM_001277115.2(DNAH11):c.4377+124C>T	noncoding	Benign
7	21619476	A	G	A21619476G	DNAH11	NM_001277115.2(DNAH11):c.4377+254A>G	noncoding	Benign
7	21620003	C	A	C21620003A	DNAH11	NM_001277115.2(DNAH11):c.4425C>A:p.Tyr1475Ter	coding	Pathogenic
7	21620012	C	T	C21620012T	DNAH11	NM_001277115.2(DNAH11):c.4434C>T:p.His1478=	coding	Benign/Likely_benign
7	21620193	A	G	A21620193G	DNAH11	NM_001277115.2(DNAH11):c.4500+115A>G	noncoding	Benign
7	21620313	C	A	C21620313A	DNAH11	NM_001277115.2(DNAH11):c.4500+235C>A	noncoding	Benign
7	21635606	G	C	G21635606C	DNAH11	NM_001277115.2(DNAH11):c.4501-265G>C	noncoding	Benign
7	21635806	T	C	T21635806C	DNAH11	NM_001277115.2(DNAH11):c.4501-65T>C	noncoding	Benign
7	21635874	C	T	C21635874T	DNAH11	NM_001277115.2(DNAH11):c.4504C>T:p.Gln1502Ter	coding	Pathogenic
7	21637340	A	T	A21637340T	DNAH11	NM_001277115.2(DNAH11):c.4726-271A>T	noncoding	Benign
7	21637360	G	T	G21637360T	DNAH11	NM_001277115.2(DNAH11):c.4726-251G>T	noncoding	Benign
7	21637447	A	T	A21637447T	DNAH11	NM_001277115.2(DNAH11):c.4726-164A>T	noncoding	Benign
7	21637849	C	T	C21637849T	DNAH11	NM_001277115.2(DNAH11):c.4817+147C>T	noncoding	Benign
7	21637941	T	G	T21637941G	DNAH11	NM_001277115.2(DNAH11):c.4817+239T>G	noncoding	Benign
7	21638989	T	C	T21638989C	DNAH11	NM_001277115.2(DNAH11):c.4868T>C:p.Ile1623Thr	coding	Benign/Likely_benign
7	21639347	A	G	A21639347G	DNAH11	NM_001277115.2(DNAH11):c.4944+282A>G	noncoding	Benign
7	21655798	A	G	A21655798G	DNAH11	NM_001277115.2(DNAH11):c.4945-34A>G	noncoding	Benign
7	21656031	G	A	G21656031A	DNAH11	NM_001277115.2(DNAH11):c.5094+50G>A	noncoding	Benign
7	21658460	G	T	G21658460T	DNAH11	NM_001277115.2(DNAH11):c.5095-338G>T	noncoding	Benign
7	21658482	C	T	C21658482T	DNAH11	NM_001277115.2(DNAH11):c.5095-316C>T	noncoding	Benign
7	21658523	C	G	C21658523G	DNAH11	NM_001277115.2(DNAH11):c.5095-275C>G	noncoding	Benign
7	21658611	G	C	G21658611C	DNAH11	NM_001277115.2(DNAH11):c.5095-187G>C	noncoding	Benign
7	21658717	G	A	G21658717A	DNAH11	NM_001277115.2(DNAH11):c.5095-81G>A	noncoding	Benign
7	21658921	C	T	C21658921T	DNAH11	NM_001277115.2(DNAH11):c.5218C>T:p.Gln1740Ter	coding	Pathogenic
7	21659162	A	C	A21659162C	DNAH11	NM_001277115.2(DNAH11):c.5328+131A>C	noncoding	Benign
7	21681235	T	G	T21681235G	DNAH11	NM_001277115.2(DNAH11):c.5329-311T>G	noncoding	Benign
7	21681244	T	A	T21681244A	DNAH11	NM_001277115.2(DNAH11):c.5329-302T>A	noncoding	Benign
7	21681264	G	C	G21681264C	DNAH11	NM_001277115.2(DNAH11):c.5329-282G>C	noncoding	Benign
7	21681512	C	G	C21681512G	DNAH11	NM_001277115.2(DNAH11):c.5329-34C>G	noncoding	Benign
7	21681982	G	A	G21681982A	DNAH11	NM_001277115.2(DNAH11):c.5460+305G>A	noncoding	Benign
7	21683514	C	T	C21683514T	DNAH11	NM_001277115.2(DNAH11):c.5461-270C>T	noncoding	Benign
7	21684061	T	C	T21684061C	DNAH11	NM_001277115.2(DNAH11):c.5621+117T>C	noncoding	Benign
7	21686801	A	G	A21686801G	DNAH11	NM_001277115.2(DNAH11):c.5622-298A>G	noncoding	Benign
7	21687098	G	T	G21687098T	DNAH11	NM_001277115.2(DNAH11):c.5622-1G>T	noncoding	Pathogenic
7	21687448	C	T	C21687448T	DNAH11	NM_001277115.2(DNAH11):c.5845C>T:p.Arg1949Ter	coding	Pathogenic
7	21687529	T	A	T21687529A	DNAH11	NM_001277115.2(DNAH11):c.5924+2T>A	noncoding	Pathogenic
7	21687568	A	G	A21687568G	DNAH11	NM_001277115.2(DNAH11):c.5924+41A>G	noncoding	Benign
7	21687653	C	T	C21687653T	DNAH11	NM_001277115.2(DNAH11):c.5924+126C>T	noncoding	Benign
7	21690490	C	G	C21690490G	DNAH11	NM_001277115.2(DNAH11):c.5925-275C>G	noncoding	Benign
7	21690586	T	G	T21690586G	DNAH11	NM_001277115.2(DNAH11):c.5925-179T>G	noncoding	Benign
7	21690591	A	G	A21690591G	DNAH11	NM_001277115.2(DNAH11):c.5925-174A>G	noncoding	Benign
7	21690605	A	G	A21690605G	DNAH11	NM_001277115.2(DNAH11):c.5925-160A>G	noncoding	Benign
7	21690850	G	A	G21690850A	DNAH11	NM_001277115.2(DNAH11):c.6010G>A:p.Glu2004Lys	coding	Benign
7	21690899	T	C	T21690899C	DNAH11	NM_001277115.2(DNAH11):c.6041+18T>C	noncoding	Benign/Likely_benign
7	21690957	G	A	G21690957A	DNAH11	NM_001277115.2(DNAH11):c.6041+76G>A	noncoding	Benign
7	21691029	T	G	T21691029G	DNAH11	NM_001277115.2(DNAH11):c.6041+148T>G	noncoding	Benign
7	21697876	T	C	T21697876C	DNAH11	NM_001277115.2(DNAH11):c.6042-199T>C	noncoding	Benign
7	21698028	T	C	T21698028C	DNAH11	NM_001277115.2(DNAH11):c.6042-47T>C	noncoding	Benign
7	21702533	C	T	C21702533T	DNAH11	NM_001277115.2(DNAH11):c.6181-177C>T	noncoding	Benign
7	21702698	T	C	T21702698C	DNAH11	NM_001277115.2(DNAH11):c.6181-12T>C	noncoding	Benign/Likely_benign
7	21702866	A	G	A21702866G	DNAH11	NM_001277115.2(DNAH11):c.6273+64A>G	noncoding	Benign
7	21704170	A	G	A21704170G	DNAH11	NM_001277115.2(DNAH11):c.6274-264A>G	noncoding	Benign
7	21704566	C	T	C21704566T	DNAH11	NM_001277115.2(DNAH11):c.6406C>T:p.Gln2136Ter	coding	Pathogenic
7	21704766	A	G	A21704766G	DNAH11	NM_001277115.2(DNAH11):c.6468+138A>G	noncoding	Benign
7	21704775	G	T	G21704775T	DNAH11	NM_001277115.2(DNAH11):c.6468+147G>T	noncoding	Benign
7	21704820	G	A	G21704820A	DNAH11	NM_001277115.2(DNAH11):c.6468+192G>A	noncoding	Benign
7	21705337	A	G	A21705337G	DNAH11	NM_001277115.2(DNAH11):c.6469-123A>G	noncoding	Benign
7	21705729	G	C	G21705729C	DNAH11	NM_001277115.2(DNAH11):c.6546+192G>C	noncoding	Benign
7	21707398	A	T	A21707398T	DNAH11	NM_001277115.2(DNAH11):c.6547-301A>T	noncoding	Benign
7	21707482	A	C	A21707482C	DNAH11	NM_001277115.2(DNAH11):c.6547-217A>C	noncoding	Benign
7	21707911	A	C	A21707911C	DNAH11	NM_001277115.2(DNAH11):c.6683+76A>C	noncoding	Benign
7	21708012	A	G	A21708012G	DNAH11	NM_001277115.2(DNAH11):c.6683+177A>G	noncoding	Benign
7	21708048	C	G	C21708048G	DNAH11	NM_001277115.2(DNAH11):c.6683+213C>G	noncoding	Benign
7	21708066	C	T	C21708066T	DNAH11	NM_001277115.2(DNAH11):c.6683+231C>T	noncoding	Benign
7	21710833	T	A	T21710833A	DNAH11	NM_001277115.2(DNAH11):c.6834+130T>A	noncoding	Benign
7	21711017	A	G	A21711017G	DNAH11	NM_001277115.2(DNAH11):c.6834+314A>G	noncoding	Benign
7	21717669	T	C	T21717669C	DNAH11	NM_001277115.2(DNAH11):c.6984-106T>C	noncoding	Benign
7	21717942	G	A	G21717942A	DNAH11	NM_001277115.2(DNAH11):c.7134+17G>A	noncoding	Benign
7	21717960	T	C	T21717960C	DNAH11	NM_001277115.2(DNAH11):c.7134+35T>C	noncoding	Benign
7	21717998	A	T	A21717998T	DNAH11	NM_001277115.2(DNAH11):c.7134+73A>T	noncoding	Benign
7	21718018	G	A	G21718018A	DNAH11	NM_001277115.2(DNAH11):c.7134+93G>A	noncoding	Benign
7	21718072	G	A	G21718072A	DNAH11	NM_001277115.2(DNAH11):c.7134+147G>A	noncoding	Benign
7	21718111	A	C	A21718111C	DNAH11	NM_001277115.2(DNAH11):c.7134+186A>C	noncoding	Benign
7	21718189	A	T	A21718189T	DNAH11	NM_001277115.2(DNAH11):c.7134+264A>T	noncoding	Benign
7	21718200	G	A	G21718200A	DNAH11	NM_001277115.2(DNAH11):c.7134+275G>A	noncoding	Benign
7	21720936	T	C	T21720936C	DNAH11	NM_001277115.2(DNAH11):c.7266+80T>C	noncoding	Benign
7	21725494	G	T	G21725494T	DNAH11	NM_001277115.2(DNAH11):c.7267-317G>T	noncoding	Benign
7	21725776	G	C	G21725776C	DNAH11	NM_001277115.2(DNAH11):c.7267-35G>C	noncoding	Benign
7	21725777	A	G	A21725777G	DNAH11	NM_001277115.2(DNAH11):c.7267-34A>G	noncoding	Benign
7	21725785	A	G	A21725785G	DNAH11	NM_001277115.2(DNAH11):c.7267-26A>G	noncoding	Benign
7	21735349	C	T	C21735349T	DNAH11	NM_001277115.2(DNAH11):c.7441-291C>T	noncoding	Benign
7	21735445	G	A	G21735445A	DNAH11	NM_001277115.2(DNAH11):c.7441-195G>A	noncoding	Benign
7	21735458	C	G	C21735458G	DNAH11	NM_001277115.2(DNAH11):c.7441-182C>G	noncoding	Benign
7	21735535	A	C	A21735535C	DNAH11	NM_001277115.2(DNAH11):c.7441-105A>C	noncoding	Benign
7	21735592	A	G	A21735592G	DNAH11	NM_001277115.2(DNAH11):c.7441-48A>G	noncoding	Benign
7	21735639	G	C	G21735639C	DNAH11	NM_001277115.2(DNAH11):c.7441-1G>C	noncoding	Pathogenic
7	21738555	T	G	T21738555G	DNAH11	NM_001277115.2(DNAH11):c.7646-146T>G	noncoding	Benign
7	21738557	C	T	C21738557T	DNAH11	NM_001277115.2(DNAH11):c.7646-144C>T	noncoding	Benign
7	21738579	G	A	G21738579A	DNAH11	NM_001277115.2(DNAH11):c.7646-122G>A	noncoding	Benign
7	21738582	C	T	C21738582T	DNAH11	NM_001277115.2(DNAH11):c.7646-119C>T	noncoding	Benign
7	21738645	C	G	C21738645G	DNAH11	NM_001277115.2(DNAH11):c.7646-56C>G	noncoding	Benign
7	21738911	T	G	T21738911G	DNAH11	NM_001277115.2(DNAH11):c.7811+45T>G	noncoding	Benign
7	21739060	G	A	G21739060A	DNAH11	NM_001277115.2(DNAH11):c.7811+194G>A	noncoding	Benign
7	21739128	C	G	C21739128G	DNAH11	NM_001277115.2(DNAH11):c.7811+262C>G	noncoding	Benign
7	21739144	C	T	C21739144T	DNAH11	NM_001277115.2(DNAH11):c.7811+278C>T	noncoding	Benign
7	21739227	G	T	G21739227T	DNAH11	NM_001277115.2(DNAH11):c.7812-344G>T	noncoding	Benign
7	21739269	C	A	C21739269A	DNAH11	NM_001277115.2(DNAH11):c.7812-302C>A	noncoding	Benign
7	21739348	C	A	C21739348A	DNAH11	NM_001277115.2(DNAH11):c.7812-223C>A	noncoding	Benign
7	21739466	G	A	G21739466A	DNAH11	NM_001277115.2(DNAH11):c.7812-105G>A	noncoding	Benign
7	21739486	C	T	C21739486T	DNAH11	NM_001277115.2(DNAH11):c.7812-85C>T	noncoding	Benign
7	21739713	T	C	T21739713C	DNAH11	NM_001277115.2(DNAH11):c.7914+40T>C	noncoding	Benign
7	21739888	A	G	A21739888G	DNAH11	NM_001277115.2(DNAH11):c.7914+215A>G	noncoding	Benign
7	21741586	T	C	T21741586C	DNAH11	NM_001277115.2(DNAH11):c.7915-341T>C	noncoding	Benign
7	21741715	A	G	A21741715G	DNAH11	NM_001277115.2(DNAH11):c.7915-212A>G	noncoding	Benign
7	21741793	A	G	A21741793G	DNAH11	NM_001277115.2(DNAH11):c.7915-134A>G	noncoding	Benign
7	21742001	C	T	C21742001T	DNAH11	NM_001277115.2(DNAH11):c.7989C>T:p.Ser2663=	coding	Benign
7	21742189	T	C	T21742189C	DNAH11	NM_001277115.2(DNAH11):c.8154+23T>C	noncoding	Benign
7	21744430	C	T	C21744430T	DNAH11	NM_001277115.2(DNAH11):c.8155-8C>T	noncoding	Benign
7	21744814	A	C	A21744814C	DNAH11	NM_001277115.2(DNAH11):c.8317-56A>C	noncoding	Benign
7	21744854	C	G	C21744854G	DNAH11	NM_001277115.2(DNAH11):c.8317-16C>G	noncoding	Benign/Likely_benign
7	21744997	T	G	T21744997G	DNAH11	NM_001277115.2(DNAH11):c.8444T>G:p.Leu2815Ter	coding	Pathogenic
7	21748989	T	C	T21748989C	DNAH11	NM_001277115.2(DNAH11):c.8673+247T>C	noncoding	Benign
7	21749408	A	G	A21749408G	DNAH11	NM_001277115.2(DNAH11):c.8674-270A>G	noncoding	Benign
7	21749824	T	C	T21749824C	DNAH11	NM_001277115.2(DNAH11):c.8797+23T>C	noncoding	Benign
7	21750550	A	G	A21750550G	DNAH11	NM_001277115.2(DNAH11):c.8940+186A>G	noncoding	Benign
7	21765234	G	A	G21765234A	DNAH11	NM_001277115.2(DNAH11):c.8941-194G>A	noncoding	Benign
7	21765612	A	T	A21765612T	DNAH11	NM_001277115.2(DNAH11):c.9102+23A>T	noncoding	Benign
7	21765613	C	G	C21765613G	DNAH11	NM_001277115.2(DNAH11):c.9102+24C>G	noncoding	Benign
7	21765622	A	T	A21765622T	DNAH11	NM_001277115.2(DNAH11):c.9102+33A>T	noncoding	Benign
7	21765726	G	A	G21765726A	DNAH11	NM_001277115.2(DNAH11):c.9102+137G>A	noncoding	Benign
7	21765770	A	G	A21765770G	DNAH11	NM_001277115.2(DNAH11):c.9102+181A>G	noncoding	Benign
7	21765801	C	G	C21765801G	DNAH11	NM_001277115.2(DNAH11):c.9102+212C>G	noncoding	Benign
7	21778705	T	C	T21778705C	DNAH11	NM_001277115.2(DNAH11):c.9337-253T>C	noncoding	Benign
7	21778868	A	G	A21778868G	DNAH11	NM_001277115.2(DNAH11):c.9337-90A>G	noncoding	Benign
7	21779051	C	T	C21779051T	DNAH11	NM_001277115.2(DNAH11):c.9430C>T:p.Gln3144Ter	coding	Pathogenic
7	21779072	G	T	G21779072T	DNAH11	NM_001277115.2(DNAH11):c.9451G>T:p.Glu3151Ter	coding	Pathogenic
7	21779075	A	T	A21779075T	DNAH11	NM_001277115.2(DNAH11):c.9454A>T:p.Lys3152Ter	coding	Pathogenic
7	21779099	C	T	C21779099T	DNAH11	NM_001277115.2(DNAH11):c.9478C>T:p.Arg3160Ter	coding	Pathogenic
7	21779232	A	G	A21779232G	DNAH11	NM_001277115.2(DNAH11):c.9483+128A>G	noncoding	Benign
7	21779382	T	C	T21779382C	DNAH11	NM_001277115.2(DNAH11):c.9483+278T>C	noncoding	Benign
7	21784244	G	T	G21784244T	DNAH11	NM_001277115.2(DNAH11):c.9484-183G>T	noncoding	Benign
7	21784440	A	G	A21784440G	DNAH11	NM_001277115.2(DNAH11):c.9497A>G:p.Gln3166Arg	coding	Benign
7	21784509	C	T	C21784509T	DNAH11	NM_001277115.2(DNAH11):c.9566C>T:p.Ala3189Val	coding	Benign
7	21784619	A	G	A21784619G	DNAH11	NM_001277115.2(DNAH11):c.9597+79A>G	noncoding	Benign
7	21784688	C	T	C21784688T	DNAH11	NM_001277115.2(DNAH11):c.9597+148C>T	noncoding	Benign
7	21786302	A	G	A21786302G	DNAH11	NM_001277115.2(DNAH11):c.9598-322A>G	noncoding	Benign
7	21786417	C	T	C21786417T	DNAH11	NM_001277115.2(DNAH11):c.9598-207C>T	noncoding	Benign
7	21786455	C	G	C21786455G	DNAH11	NM_001277115.2(DNAH11):c.9598-169C>G	noncoding	Benign
7	21786581	G	C	G21786581C	DNAH11	NM_001277115.2(DNAH11):c.9598-43G>C	noncoding	Benign
7	21786608	G	A	G21786608A	DNAH11	NM_001277115.2(DNAH11):c.9598-16G>A	noncoding	Benign/Likely_benign
7	21786961	G	A	G21786961A	DNAH11	NM_001277115.2(DNAH11):c.9741+194G>A	noncoding	Benign
7	21787555	G	C	G21787555C	DNAH11	NM_001277115.2(DNAH11):c.9896G>C:p.Trp3299Ser	coding	Pathogenic
7	21787740	A	G	A21787740G	DNAH11	NM_001277115.2(DNAH11):c.9924+157A>G	noncoding	Benign
7	21800813	A	G	A21800813G	DNAH11	NM_001277115.2(DNAH11):c.10027-324A>G	noncoding	Benign
7	21800840	G	T	G21800840T	DNAH11	NM_001277115.2(DNAH11):c.10027-297G>T	noncoding	Benign
7	21800878	G	T	G21800878T	DNAH11	NM_001277115.2(DNAH11):c.10027-259G>T	noncoding	Benign
7	21800942	C	T	C21800942T	DNAH11	NM_001277115.2(DNAH11):c.10027-195C>T	noncoding	Benign
7	21801263	G	T	G21801263T	DNAH11	NM_001277115.2(DNAH11):c.10153G>T:p.Glu3385Ter	coding	Pathogenic
7	21801329	G	A	G21801329A	DNAH11	NM_001277115.2(DNAH11):c.10165+54G>A	noncoding	Benign
7	21801359	A	G	A21801359G	DNAH11	NM_001277115.2(DNAH11):c.10165+84A>G	noncoding	Benign
7	21801362	T	A	T21801362A	DNAH11	NM_001277115.2(DNAH11):c.10165+87T>A	noncoding	Benign
7	21801462	T	A	T21801462A	DNAH11	NM_001277115.2(DNAH11):c.10165+187T>A	noncoding	Benign
7	21801600	T	C	T21801600C	DNAH11	NM_001277115.2(DNAH11):c.10165+325T>C	noncoding	Benign
7	21807839	A	G	A21807839G	DNAH11	NM_001277115.2(DNAH11):c.10166-44A>G	noncoding	Benign
7	21816139	T	C	T21816139C	DNAH11	NM_001277115.2(DNAH11):c.10333-328T>C	noncoding	Benign
7	21816305	A	C	A21816305C	DNAH11	NM_001277115.2(DNAH11):c.10333-162A>C	noncoding	Benign
7	21816772	G	A	G21816772A	DNAH11	NM_001277115.2(DNAH11):c.10568+70G>A	noncoding	Benign
7	21816863	C	T	C21816863T	DNAH11	NM_001277115.2(DNAH11):c.10568+161C>T	noncoding	Benign
7	21818158	A	T	A21818158T	DNAH11	NM_001277115.2(DNAH11):c.10569-59A>T	noncoding	Benign
7	21818425	A	G	A21818425G	DNAH11	NM_001277115.2(DNAH11):c.10691+86A>G	noncoding	Benign
7	21818562	G	A	G21818562A	DNAH11	NM_001277115.2(DNAH11):c.10691+223G>A	noncoding	Benign
7	21818597	G	A	G21818597A	DNAH11	NM_001277115.2(DNAH11):c.10691+258G>A	noncoding	Benign
7	21818600	G	T	G21818600T	DNAH11	NM_001277115.2(DNAH11):c.10691+261G>T	noncoding	Benign
7	21842592	C	G	C21842592G	DNAH11	NM_001277115.2(DNAH11):c.10740C>G:p.Arg3580=	coding	Benign/Likely_benign
7	21842806	A	G	A21842806G	DNAH11	NM_001277115.2(DNAH11):c.10896+58A>G	noncoding	Benign
7	21842943	C	T	C21842943T	DNAH11	NM_001277115.2(DNAH11):c.10896+195C>T	noncoding	Benign
7	21842973	C	G	C21842973G	DNAH11	NM_001277115.2(DNAH11):c.10896+225C>G	noncoding	Benign
7	21852703	G	A	G21852703A	DNAH11	NM_001277115.2(DNAH11):c.11061+72G>A	noncoding	Benign
7	21852798	G	A	G21852798A	DNAH11	NM_001277115.2(DNAH11):c.11061+167G>A	noncoding	Benign
7	21852817	C	T	C21852817T	DNAH11	NM_001277115.2(DNAH11):c.11061+186C>T	noncoding	Benign
7	21852877	T	C	T21852877C	DNAH11	NM_001277115.2(DNAH11):c.11061+246T>C	noncoding	Benign
7	21854093	G	A	G21854093A	DNAH11	NM_001277115.2(DNAH11):c.11062-222G>A	noncoding	Benign
7	21854441	C	T	C21854441T	DNAH11	NM_001277115.2(DNAH11):c.11188C>T:p.Gln3730Ter	coding	Pathogenic
7	21854501	A	C	A21854501C	DNAH11	NM_001277115.2(DNAH11):c.11202+46A>C	noncoding	Benign
7	21854515	C	A	C21854515A	DNAH11	NM_001277115.2(DNAH11):c.11202+60C>A	noncoding	Benign
7	21862040	C	T	C21862040T	DNAH11	NM_001277115.2(DNAH11):c.11373+17C>T	noncoding	Benign/Likely_benign
7	21864210	T	A	T21864210A	DNAH11	NM_001277115.2(DNAH11):c.11374-325T>A	noncoding	Benign
7	21864739	A	G	A21864739G	DNAH11	NM_001277115.2(DNAH11):c.11496+82A>G	noncoding	Benign
7	21866213	C	A	C21866213A	DNAH11	NM_001277115.2(DNAH11):c.11497-257C>A	noncoding	Benign
7	21866359	T	C	T21866359C	DNAH11	NM_001277115.2(DNAH11):c.11497-111T>C	noncoding	Benign
7	21866494	C	T	C21866494T	DNAH11	NM_001277115.2(DNAH11):c.11521C>T:p.Arg3841Ter	coding	Pathogenic
7	21867757	G	C	G21867757C	DNAH11	NM_001277115.2(DNAH11):c.11691-102G>C	noncoding	Benign
7	21867809	T	C	T21867809C	DNAH11	NM_001277115.2(DNAH11):c.11691-50T>C	noncoding	Benign
7	21867840	A	G	A21867840G	DNAH11	NM_001277115.2(DNAH11):c.11691-19A>G	noncoding	Benign
7	21868019	G	C	G21868019C	DNAH11	NM_001277115.2(DNAH11):c.11839+12G>C	noncoding	Benign
7	21868034	C	T	C21868034T	DNAH11	NM_001277115.2(DNAH11):c.11839+27C>T	noncoding	Benign
7	21868078	T	C	T21868078C	DNAH11	NM_001277115.2(DNAH11):c.11839+71T>C	noncoding	Benign
7	21868661	T	G	T21868661G	DNAH11	NM_001277115.2(DNAH11):c.11840-203T>G	noncoding	Benign
7	21868827	T	C	T21868827C	DNAH11	NM_001277115.2(DNAH11):c.11840-37T>C	noncoding	Benign
7	21868844	C	T	C21868844T	DNAH11	NM_001277115.2(DNAH11):c.11840-20C>T	noncoding	Benign/Likely_benign
7	21868953	G	T	G21868953T	DNAH11	NM_001277115.2(DNAH11):c.11929G>T:p.Glu3977Ter	coding	Pathogenic
7	21869005	T	G	T21869005G	DNAH11	NM_001277115.2(DNAH11):c.11967+14T>G	noncoding	Benign
7	21869072	C	G	C21869072G	DNAH11	NM_001277115.2(DNAH11):c.11967+81C>G	noncoding	Benign
7	21869313	A	G	A21869313G	DNAH11	NM_001277115.2(DNAH11):c.11967+322A>G	noncoding	Benign
7	21880428	G	A	G21880428A	DNAH11	NM_001277115.2(DNAH11):c.12196-274G>A	noncoding	Benign
7	21880547	C	T	C21880547T	DNAH11	NM_001277115.2(DNAH11):c.12196-155C>T	noncoding	Benign
7	21880690	C	G	C21880690G	DNAH11	NM_001277115.2(DNAH11):c.12196-12C>G	noncoding	Benign/Likely_benign
7	21880850	T	G	T21880850G	DNAH11	NM_001277115.2(DNAH11):c.12344T>G:p.Ile4115Ser	coding	Benign/Likely_benign
7	21880876	T	G	T21880876G	DNAH11	NM_001277115.2(DNAH11):c.12370T>G:p.Leu4124Val	coding	Benign/Likely_benign
7	21880938	G	A	G21880938A	DNAH11	NM_001277115.2(DNAH11):c.12387+45G>A	noncoding	Benign
7	21884249	C	G	C21884249G	DNAH11	NM_001277115.2(DNAH11):c.12388-42C>G	noncoding	Benign
7	21884514	G	C	G21884514C	DNAH11	NM_001277115.2(DNAH11):c.12507+104G>C	noncoding	Benign
7	21884621	C	G	C21884621G	DNAH11	NM_001277115.2(DNAH11):c.12507+211C>G	noncoding	Benign
7	21892484	A	G	A21892484G	DNAH11	NM_001277115.2(DNAH11):c.12567A>G:p.Ala4189=	coding	Benign
7	21892574	A	G	A21892574G	DNAH11	NM_001277115.2(DNAH11):c.12657A>G:p.Thr4219=	coding	Benign
7	21892641	G	T	G21892641T	DNAH11	NM_001277115.2(DNAH11):c.12724G>T:p.Glu4242Ter	coding	Pathogenic
7	21892699	T	C	T21892699C	DNAH11	NM_001277115.2(DNAH11):c.12750+32T>C	noncoding	Benign
7	21892930	G	A	G21892930A	DNAH11	NM_001277115.2(DNAH11):c.12750+263G>A	noncoding	Benign
7	21894327	C	G	C21894327G	DNAH11	NM_001277115.2(DNAH11):c.12751-296C>G	noncoding	Benign
7	21894883	G	T	G21894883T	DNAH11	NM_001277115.2(DNAH11):c.12934-1G>T	noncoding	Pathogenic
7	21899325	C	A	C21899325A	DNAH11	NM_001277115.2(DNAH11):c.13050-11C>A	noncoding	Benign/Likely_benign
7	21899382	C	T	C21899382T	DNAH11	NM_001277115.2(DNAH11):c.13096C>T:p.Gln4366Ter	coding	Pathogenic
7	21899471	C	A	C21899471A	DNAH11	NM_001277115.2(DNAH11):c.13162+23C>A	noncoding	Benign
7	21899531	G	A	G21899531A	DNAH11	NM_001277115.2(DNAH11):c.13162+83G>A	noncoding	Benign
7	21899724	T	A	T21899724A	DNAH11	NM_001277115.2(DNAH11):c.13163-256T>A	noncoding	Benign
7	21899726	T	G	T21899726G	DNAH11	NM_001277115.2(DNAH11):c.13163-254T>G	noncoding	Benign
7	21899764	A	G	A21899764G	DNAH11	NM_001277115.2(DNAH11):c.13163-216A>G	noncoding	Benign
7	21899867	C	T	C21899867T	DNAH11	NM_001277115.2(DNAH11):c.13163-113C>T	noncoding	Benign
7	21899961	T	A	T21899961A	DNAH11	NM_001277115.2(DNAH11):c.13163-19T>A	noncoding	Benign/Likely_benign
7	21900824	C	T	C21900824T	DNAH11	NM_001277115.2(DNAH11):c.13304-183C>T	noncoding	Benign
7	21900847	T	C	T21900847C	DNAH11	NM_001277115.2(DNAH11):c.13304-160T>C	noncoding	Benign
7	21900862	C	T	C21900862T	DNAH11	NM_001277115.2(DNAH11):c.13304-145C>T	noncoding	Benign
7	21901009	G	A	G21901009A	DNAH11	NM_001277115.2(DNAH11):c.13306G>A:p.Ala4436Thr	coding	Pathogenic
7	21901076	C	T	C21901076T	DNAH11	NM_018719.5(CDCA7L):c.*1246G>A	coding	Pathogenic/Likely_pathogenic
7	21901077	G	A	G21901077A	DNAH11	NM_001277115.2(DNAH11):c.13374G>A:p.Pro4458=	coding	Benign/Likely_benign
7	21901342	A	G	A21901342G	DNAH11	NM_001277115.2(DNAH11):c.*88A>G	noncoding	Benign/Likely_benign
7	21901443	C	G	C21901443G	DNAH11	NM_001277115.2(DNAH11):c.*189C>G	noncoding	Benign/Likely_benign
7	22726602	A	G	A22726602G	IL6	NR_131935.1(IL6-AS1):n.157T>C	noncoding	Benign
7	22945954	A	G	A22945954G	HYCC1	NM_032581.4(HYCC1):c.1201T>C:p.Cys401Arg	coding	Benign/Likely_benign
7	22945984	C	G	C22945984G	HYCC1	NM_032581.4(HYCC1):c.1171G>C:p.Gly391Arg	coding	Benign/Likely_benign
7	22946249	T	C	T22946249C	FAM126A	NM_032581.4(FAM126A):c.992-86A>G	noncoding	Benign
7	22946342	C	G	C22946342G	FAM126A	NM_032581.4(FAM126A):c.992-179G>C	noncoding	Benign
7	22960245	G	A	G22960245A	HYCC1	NM_032581.4(HYCC1):c.991+11C>T	noncoding	Benign/Likely_benign
7	22964395	G	A	G22964395A	HYCC1	NM_032581.4(HYCC1):c.743+20C>T	noncoding	Benign/Likely_benign
7	22964436	A	C	A22964436C	FAM126A	NM_032581.4(FAM126A):c.722T>G:p.Leu241Ter	coding	Pathogenic
7	22964509	G	A	G22964509A	HYCC1	NM_032581.4(HYCC1):c.649C>T:p.Arg217Ter	coding	Pathogenic
7	22964754	A	G	A22964754G	FAM126A	NM_032581.4(FAM126A):c.627-223T>C	noncoding	Benign
7	22964783	G	A	G22964783A	FAM126A	NM_032581.4(FAM126A):c.627-252C>T	noncoding	Benign
7	22976681	C	T	C22976681T	HYCC1	NM_032581.4(HYCC1):c.530+12G>A	noncoding	Benign/Likely_benign
7	22976791	G	C	G22976791C	HYCC1	NM_032581.4(HYCC1):c.432C>G:p.Ser144=	coding	Benign
7	22976911	A	G	A22976911G	FAM126A	NM_032581.4(FAM126A):c.415-103T>C	noncoding	Benign
7	22977028	T	C	T22977028C	FAM126A	NM_032581.4(FAM126A):c.415-220A>G	noncoding	Benign
7	22977322	G	A	G22977322A	HYCC1	NM_032581.4(HYCC1):c.414+19C>T	noncoding	Benign
7	22978699	G	A	G22978699A	FAM126A	NM_032581.4(FAM126A):c.154-251C>T	noncoding	Benign
7	22984335	A	C	A22984335C	FAM126A	NM_032581.4(FAM126A):c.52-290T>G	noncoding	Benign
7	23143874	G	C	G23143874C	KLHL7	NM_001031710.3(KLHL7):c.642G>C:p.Trp214Cys	coding	Pathogenic
7	23152080	C	A	C23152080A	KLHL7	NM_001031710.3(KLHL7):c.807C>A:p.Tyr269Ter	coding	Pathogenic
7	23152105	G	T	G23152105T	KLHL7	NM_001031710.3(KLHL7):c.832G>T:p.Glu278Ter	coding	Pathogenic
7	23165875	C	T	C23165875T	KLHL7	NM_001031710.3(KLHL7):c.1114C>T:p.Arg372Ter	coding	Pathogenic
7	23167887	G	A	G23167887A	KLHL7	NM_001031710.3(KLHL7):c.1229G>A:p.Trp410Ter	coding	Pathogenic
7	23167926	A	G	A23167926G	KLHL7	NM_001031710.3(KLHL7):c.1268A>G:p.His423Arg	coding	Pathogenic
7	23174175	C	T	C23174175T	KLHL7	NM_001031710.3(KLHL7):c.1638C>T:p.Leu546=	coding	Benign
7	24285390	G	A	G24285390A	NPY	NM_000905.4(NPY):c.150G>A:p.Ser50=	coding	Benign
7	24289514	C	T	C24289514T	NPY	NM_000905.4(NPY):c.204C>T:p.Ser68=	coding	Benign
7	24702509	G	A	G24702509A	GSDME	NM_001127453.2(GSDME):c.1257+251C>T	noncoding	Benign
7	24702809	A	G	A24702809G	GSDME	NM_001127453.2(GSDME):c.1208T>C:p.Leu403Pro	coding	Benign/Likely_benign
7	24702895	C	T	C24702895T	GSDME	NM_001127453.2(GSDME):c.1184-62G>A	noncoding	Benign
7	24702934	G	A	G24702934A	GSDME	NM_001127453.2(GSDME):c.1184-101C>T	noncoding	Benign
7	24702957	C	T	C24702957T	GSDME	NM_001127453.2(GSDME):c.1184-124G>A	noncoding	Benign
7	24702966	C	T	C24702966T	GSDME	NM_001127453.2(GSDME):c.1184-133G>A	noncoding	Benign
7	24705996	A	C	A24705996C	GSDME	NM_001127453.2(GSDME):c.1183+188T>G	noncoding	Benign
7	24705998	A	G	A24705998G	GSDME	NM_001127453.2(GSDME):c.1183+186T>C	noncoding	Benign
7	24706000	A	T	A24706000T	GSDME	NM_001127453.2(GSDME):c.1183+184T>A	noncoding	Benign
7	24706007	A	T	A24706007T	GSDME	NM_001127453.2(GSDME):c.1183+177T>A	noncoding	Benign
7	24706014	G	T	G24706014T	GSDME	NM_001127453.2(GSDME):c.1183+170C>A	noncoding	Benign
7	24706016	G	T	G24706016T	GSDME	NM_001127453.2(GSDME):c.1183+168C>A	noncoding	Benign
7	24706167	T	C	T24706167C	GSDME	NM_001127453.2(GSDME):c.1183+17A>G	noncoding	Benign/Likely_benign
7	24706265	G	C	G24706265C	GSDME	NM_001127453.2(GSDME):c.1102C>G:p.Gln368Glu	coding	Pathogenic
7	24706403	A	G	A24706403G	GSDME	NM_001127453.2(GSDME):c.991-27T>C	noncoding	Benign
7	24706628	G	A	G24706628A	GSDME	NM_001127453.2(GSDME):c.991-252C>T	noncoding	Benign
7	24706649	C	T	C24706649T	GSDME	NM_001127453.2(GSDME):c.991-273G>A	noncoding	Benign
7	24707892	C	T	C24707892T	GSDME	NM_001127453.2(GSDME):c.990+235G>A	noncoding	Benign
7	24708111	A	T	A24708111T	GSDME	NM_001127453.2(GSDME):c.990+16T>A	noncoding	Benign
7	24708291	G	A	G24708291A	GSDME	NM_001127453.2(GSDME):c.863-37C>T	noncoding	Benign
7	24709975	G	A	G24709975A	GSDME	NM_001127453.2(GSDME):c.862+249C>T	noncoding	Benign
7	24717024	A	G	A24717024G	GSDME	NM_001127453.2(GSDME):c.697+230T>C	noncoding	Benign
7	24717128	T	C	T24717128C	GSDME	NM_001127453.2(GSDME):c.697+126A>G	noncoding	Benign
7	24717237	T	C	T24717237C	GSDME	NM_001127453.2(GSDME):c.697+17A>G	noncoding	Benign/Likely_benign
7	24717576	C	T	C24717576T	GSDME	NM_001127453.2(GSDME):c.577-202G>A	noncoding	Benign
7	24717583	C	A	C24717583A	GSDME	NM_001127453.2(GSDME):c.577-209G>T	noncoding	Benign
7	24717611	G	A	G24717611A	GSDME	NM_001127453.2(GSDME):c.577-237C>T	noncoding	Benign
7	24717622	A	C	A24717622C	GSDME	NM_001127453.2(GSDME):c.577-248T>G	noncoding	Benign
7	24718946	G	A	G24718946A	GSDME	NM_001127453.2(GSDME):c.576+101C>T	noncoding	Benign
7	24719026	G	T	G24719026T	GSDME	NM_001127453.2(GSDME):c.576+21C>A	noncoding	Benign
7	24719034	C	T	C24719034T	GSDME	NM_001127453.2(GSDME):c.576+13G>A	noncoding	Benign/Likely_benign
7	24719095	G	A	G24719095A	GSDME	NM_001127453.2(GSDME):c.528C>T:p.Val176=	coding	Benign/Likely_benign
7	24719444	G	A	G24719444A	GSDME	NM_001127453.2(GSDME):c.405-226C>T	noncoding	Benign
7	24719519	G	A	G24719519A	GSDME	NM_001127453.2(GSDME):c.405-301C>T	noncoding	Benign
7	24744368	C	A	C24744368A	GSDME	NM_001127453.2(GSDME):c.404+194G>T	noncoding	Benign
7	24744438	G	A	G24744438A	GSDME	NM_001127453.2(GSDME):c.404+124C>T	noncoding	Benign
7	24744784	C	T	C24744784T	GSDME	NM_001127453.2(GSDME):c.212-30G>A	noncoding	Benign
7	24744866	A	G	A24744866G	GSDME	NM_001127453.2(GSDME):c.212-112T>C	noncoding	Benign
7	24749463	C	T	C24749463T	GSDME	NM_001127453.2(GSDME):c.211+101G>A	noncoding	Benign
7	24749830	G	A	G24749830A	GSDME	NM_001127453.2(GSDME):c.-19-37C>T	noncoding	Benign
7	26192512	A	C	A26192512C	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.*4T>G	noncoding	Benign
7	26192747	T	C	T26192747C	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.965-170A>G	noncoding	Benign
7	26193309	A	T	A26193309T	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.906T>A:p.Gly302=	coding	Benign
7	26193660	T	G	T26193660G	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.756A>C:p.Gly252=	coding	Benign/Likely_benign
7	26194030	A	C	A26194030C	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.722-336T>G	noncoding	Benign
7	26195724	C	A	C26195724A	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.721+123G>T	noncoding	Benign
7	26195793	G	A	G26195793A	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.721+54C>T	noncoding	Benign
7	26195828	A	G	A26195828G	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.721+19T>C	noncoding	Benign
7	26195928	A	G	A26195928G	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.659-19T>C	noncoding	Benign
7	26196383	G	A	G26196383A	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.658+18C>T	noncoding	Benign
7	26196674	C	T	C26196674T	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.476-16G>A	noncoding	Benign
7	26196798	G	A	G26196798A	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.475+9C>T	noncoding	Benign
7	26197136	T	A	T26197136A	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.265-119A>T	noncoding	Benign
7	26197609	G	A	G26197609A	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.117+13C>T	noncoding	Benign
7	26198072	G	A	G26198072A	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.7-340C>T	noncoding	Benign
7	26346087	C	T	C26346087T	SNX10	NM_013322.3(SNX10):c.-23-333C>T	noncoding	Benign
7	26346089	T	C	T26346089C	SNX10	NM_013322.3(SNX10):c.-23-331T>C	noncoding	Benign
7	26346206	T	G	T26346206G	SNX10	NM_013322.3(SNX10):c.-23-214T>G	noncoding	Benign
7	26346451	G	A	G26346451A	SNX10	NM_013322.3(SNX10):c.9G>A:p.Pro3=	coding	Benign
7	26346458	C	T	C26346458T	SNX10	NM_013322.3(SNX10):c.16C>T:p.Gln6Ter	coding	Pathogenic
7	26346502	T	A	T26346502A	SNX10	NM_013322.3(SNX10):c.24+36T>A	noncoding	Benign
7	26346534	T	C	T26346534C	SNX10	NM_013322.3(SNX10):c.24+68T>C	noncoding	Benign
7	26361037	C	A	C26361037A	SNX10	NM_013322.3(SNX10):c.87C>A:p.Tyr29Ter	coding	Pathogenic
7	26364181	A	G	A26364181G	SNX10	NM_013322.3(SNX10):c.112-354A>G	noncoding	Benign
7	26364451	G	A	G26364451A	SNX10	NM_013322.3(SNX10):c.112-84G>A	coding	Benign
7	26372503	G	A	G26372503A	SNX10	NM_013322.3(SNX10):c.537G>A:p.Gly179=	coding	Benign
7	27094384	G	T	G27094384T	HOXA1	NM_005522.5(HOXA1):c.*56C>A	noncoding	Benign/Likely_benign
7	27095019	C	T	C27095019T	HOXA1	NM_005522.5(HOXA1):c.653-224G>A	noncoding	Benign
7	27102038	C	G	C27102038G	HOXA2	NM_006735.4(HOXA2):c.391+72G>C	noncoding	Benign
7	27119517	G	C	G27119517C	HOXA3	NM_153631.3(HOXA3):c.-121+3042C>G	noncoding	Benign
7	27128893	C	G	C27128893G	HOXA4	NM_002141.5(HOXA4):c.*332G>C	noncoding	Benign
7	27128971	A	G	A27128971G	HOXA4	NM_002141.5(HOXA4):c.*254T>C	noncoding	Benign
7	27129100	C	T	C27129100T	HOXA4	NM_002141.5(HOXA4):c.*125G>A	noncoding	Benign
7	27129474	T	G	T27129474G	HOXA4	NM_002141.5(HOXA4):c.714A>C:p.Arg238=	coding	Benign
7	27129750	T	C	T27129750C	HOXA4	NM_002141.5(HOXA4):c.617-179A>G	noncoding	Benign
7	27129769	A	C	A27129769C	HOXA4	NM_002141.5(HOXA4):c.617-198T>G	noncoding	Benign
7	27129998	T	C	T27129998C	HOXA4	NM_002141.5(HOXA4):c.616+120A>G	noncoding	Benign
7	27130315	A	G	A27130315G	HOXA4	NM_002141.5(HOXA4):c.419T>C:p.Leu140Pro	coding	Benign
7	27130526	T	G	T27130526G	HOXA4	NM_002141.5(HOXA4):c.208A>C:p.Thr70Pro	coding	Benign
7	27130540	C	T	C27130540T	HOXA4	NM_002141.5(HOXA4):c.194G>A:p.Gly65Asp	coding	Benign
7	27130964	C	T	C27130964T	HOXA4	NM_153631.3(HOXA3):c.-389-3894G>A	noncoding	Benign
7	27131087	G	A	G27131087A	HOXA4	NM_153631.3(HOXA3):c.-389-4017C>T	noncoding	Benign
7	27182790	G	A	G27182790A	HOXA11	NM_005523.6(HOXA11):c.*6C>T	noncoding	Benign
7	27184152	C	T	C27184152T	HOXA11	NM_005523.6(HOXA11):c.709+284G>A	noncoding	Benign
7	27184656	C	G	C27184656G	HOXA11	NM_005523.6(HOXA11):c.489G>C:p.Lys163Asn	coding	Benign
7	27185344	T	C	T27185344C	HOXA11	Single_allele	noncoding	Benign
7	27199072	C	G	C27199072G	HOXA13	NM_000522.5(HOXA13):c.922+84G>C	noncoding	Benign
7	27199181	G	A	G27199181A	HOXA13	NM_000522.5(HOXA13):c.897C>T:p.Pro299=	coding	Benign
7	27199574	C	T	C27199574T	HOXA13	NM_000522.5(HOXA13):c.504G>A:p.Ala168=	coding	Benign
7	27199582	G	T	G27199582T	HOXA13	NM_000522.5(HOXA13):c.496C>A:p.Pro166Thr	coding	Benign
7	27199931	C	T	C27199931T	HOXA13	NM_000522.5(HOXA13):c.147G>A:p.Ala49=	coding	Benign
7	28149792	T	C	T28149792C	JAZF1	NM_175061.4(JAZF1):c.115+30671A>G	noncoding	Benign
7	29923318	C	T	C29923318T	SCRN1	NM_014766.5(SCRN1):c.*639G>A	noncoding	Benign
7	30015008	C	A	C30015008A	FKBP14	NM_017946.4(FKBP14):c.478-115G>T	noncoding	Benign
7	30022586	A	G	A30022586G	FKBP14	NM_017946.4(FKBP14):c.349+79T>C	noncoding	Benign
7	30022649	A	C	A30022649C	FKBP14	NM_017946.4(FKBP14):c.349+16T>G	noncoding	Benign/Likely_benign
7	30022650	C	T	C30022650T	FKBP14	NM_017946.4(FKBP14):c.349+15G>A	noncoding	Benign/Likely_benign
7	30026289	A	G	A30026289G	FKBP14	NM_017946.4(FKBP14):c.197+23T>C	noncoding	Benign
7	30451695	C	T	C30451695T	NOD1	NM_006092.4(NOD1):c.1722G>A:p.Ala574=	coding	Benign
7	30452621	C	T	C30452621T	NOD1	NM_006092.4(NOD1):c.796G>A:p.Glu266Lys	coding	Benign
7	30601179	T	C	T30601179C	GARS1	NM_002047.4(GARS1):c.548T>C:p.Leu183Pro	coding	Pathogenic
7	30602883	C	A	C30602883A	GARS1	NM_002047.4(GARS1):c.570-151C>A	noncoding	Benign
7	30603111	A	G	A30603111G	GARS1	NM_002047.4(GARS1):c.647A>G:p.His216Arg	coding	Pathogenic/Likely_pathogenic
7	30603537	G	A	G30603537A	GARS1	NM_002047.4(GARS1):c.700G>A:p.Glu234Lys	coding	Benign/Likely_benign
7	30612221	C	A	C30612221A	GARS1	NM_002047.4(GARS1):c.1007C>A:p.Pro336His	coding	Pathogenic
7	30612229	G	A	G30612229A	GARS1	NM_002047.4(GARS1):c.1015G>A:p.Gly339Arg	coding	Pathogenic
7	30612322	G	A	G30612322A	GARS1	NM_002047.4(GARS1):c.1031+77G>A	noncoding	Benign
7	30616270	C	G	C30616270G	GARS1	NM_002047.4(GARS1):c.1194+212C>G	noncoding	Benign
7	30617034	G	A	G30617034A	GARS1	NM_002047.4(GARS1):c.1195-80G>A	noncoding	Benign
7	30621322	A	C	A30621322C	GARS1	NM_002047.4(GARS1):c.1360-71A>C	noncoding	Benign
7	30628515	T	C	T30628515C	GARS1	NM_002047.4(GARS1):c.1700-45T>C	noncoding	Benign/Likely_benign
7	30628598	G	C	G30628598C	GARS1	NM_002047.4(GARS1):c.1738G>C:p.Gly580Arg	coding	Pathogenic
7	30632566	G	A	G30632566A	GARS1	NM_002047.4(GARS1):c.2094+129G>A	noncoding	Benign
7	30634164	A	G	A30634164G	GARS1	Single_allele	noncoding	Benign
7	30912228	G	A	G30912228A	AQP1	NM_198098.4(AQP1):c.319G>A:p.Val107Ile	coding	Benign
7	30912229	T	G	T30912229G	AQP1	NM_198098.4(AQP1):c.320T>G:p.Val107Gly	coding	Benign
7	30921380	G	A	G30921380A	AQP1	NM_198098.4(AQP1):c.385-686G>A	noncoding	Benign
7	30922175	G	A	G30922175A	AQP1	NM_198098.4(AQP1):c.494G>A:p.Gly165Asp	coding	Benign
7	30922242	G	A	G30922242A	AQP1	NM_198098.4(AQP1):c.549+12G>A	noncoding	Benign
7	30922379	G	C	G30922379C	AQP1	NM_198098.4(AQP1):c.549+149G>C	noncoding	Benign
7	30923432	C	T	C30923432T	AQP1	NM_198098.4(AQP1):c.631-18C>T	noncoding	Benign
7	30923439	T	A	T30923439A	AQP1	NM_198098.4(AQP1):c.631-11T>A	noncoding	Benign
7	30963808	C	T	C30963808T	GHRHR	Single_allele	noncoding	Benign
7	30963834	C	T	C30963834T	GHRHR	Single_allele	noncoding	Benign
7	30963945	A	C	A30963945C	GHRHR	NG_021416.1:g.4925A>C	noncoding	Pathogenic
7	30964204	C	T	C30964204T	GHRHR	NM_000823.4(GHRHR):c.57+79C>T	noncoding	Benign
7	30964346	A	G	A30964346G	GHRHR	NM_000823.4(GHRHR):c.57+221A>G	noncoding	Benign
7	30964423	G	A	G30964423A	GHRHR	NM_000823.4(GHRHR):c.57+298G>A	noncoding	Benign
7	30968992	C	T	C30968992T	GHRHR	NM_000823.4(GHRHR):c.160+56C>T	noncoding	Benign
7	30969073	G	A	G30969073A	GHRHR	NM_000823.4(GHRHR):c.171G>A:p.Ala57=	coding	Benign
7	30969282	C	T	C30969282T	GHRHR	NM_000823.4(GHRHR):c.268+112C>T	noncoding	Benign
7	30969437	C	G	C30969437G	GHRHR	NM_000823.4(GHRHR):c.268+267C>G	noncoding	Benign
7	30969870	C	T	C30969870T	GHRHR	NM_000823.4(GHRHR):c.272C>T:p.Ala91Val	coding	Benign/Likely_benign
7	30970117	T	C	T30970117C	GHRHR	NM_000823.4(GHRHR):c.366+153T>C	noncoding	Benign
7	30971734	G	T	G30971734T	GHRHR	NM_000823.4(GHRHR):c.465-229G>T	noncoding	Benign
7	30971870	A	G	A30971870G	GHRHR	NM_000823.4(GHRHR):c.465-93A>G	noncoding	Benign
7	30972388	C	T	C30972388T	GHRHR	NM_000823.4(GHRHR):c.597+293C>T	noncoding	Benign
7	30974154	G	T	G30974154T	GHRHR	NM_000823.4(GHRHR):c.751+16G>T	noncoding	Benign
7	30974156	G	T	G30974156T	GHRHR	NM_000823.4(GHRHR):c.751+18G>T	noncoding	Benign
7	30974242	G	T	G30974242T	GHRHR	NM_000823.4(GHRHR):c.751+104G>T	noncoding	Benign
7	30974497	G	A	G30974497A	GHRHR	NM_000823.4(GHRHR):c.812+8G>A	noncoding	Benign
7	30974834	T	C	T30974834C	GHRHR	NM_000823.4(GHRHR):c.813-137T>C	noncoding	Benign
7	30974953	T	C	T30974953C	GHRHR	NM_000823.4(GHRHR):c.813-18T>C	noncoding	Benign
7	30975058	T	A	T30975058A	GHRHR	NM_000823.4(GHRHR):c.882+18T>A	noncoding	Benign
7	30975861	C	T	C30975861T	GHRHR	NM_000823.4(GHRHR):c.967C>T:p.Gln323Ter	coding	Pathogenic
7	30975950	T	G	T30975950G	GHRHR	NM_000823.4(GHRHR):c.974+82T>G	noncoding	Benign
7	30976082	C	G	C30976082G	GHRHR	NM_000823.4(GHRHR):c.974+214C>G	noncoding	Benign
7	30976225	G	T	G30976225T	GHRHR	NM_000823.4(GHRHR):c.975-204G>T	noncoding	Benign
7	30976264	G	A	G30976264A	GHRHR	NM_000823.4(GHRHR):c.975-165G>A	noncoding	Benign
7	30976403	G	A	G30976403A	GHRHR	NM_000823.4(GHRHR):c.975-26G>A	noncoding	Benign
7	30976411	G	A	G30976411A	GHRHR	NM_000823.4(GHRHR):c.975-18G>A	noncoding	Benign
7	30976468	T	C	T30976468C	GHRHR	NM_000823.4(GHRHR):c.1014T>C:p.Phe338=	coding	Benign
7	30976523	C	T	C30976523T	GHRHR	NM_000823.4(GHRHR):c.1069C>T:p.Arg357Cys	coding	Pathogenic
7	30976578	C	T	C30976578T	GHRHR	NM_000823.4(GHRHR):c.1104+20C>T	noncoding	Benign
7	30977488	G	C	G30977488C	GHRHR	NM_000823.4(GHRHR):c.1146+166G>C	noncoding	Benign
7	31753676	T	G	T31753676G	PDE1C	NM_001191057.4(PDE1C):c.1961-123A>C	noncoding	Benign
7	31790481	A	G	A31790481G	PDE1C	NM_001191057.4(PDE1C):c.1892-14749T>C	noncoding	Benign
7	31809092	A	G	A31809092G	PDE1C	NM_001191057.4(PDE1C):c.1830T>C:p.Gly610=	coding	Benign
7	31809149	T	C	T31809149C	PDE1C	NM_001191057.4(PDE1C):c.1814-41A>G	noncoding	Benign
7	31815781	A	G	A31815781G	PDE1C	NM_001191057.4(PDE1C):c.1813+143T>C	noncoding	Benign
7	31815806	A	G	A31815806G	PDE1C	NM_001191057.4(PDE1C):c.1813+118T>C	noncoding	Benign
7	31815955	G	A	G31815955A	PDE1C	NM_001191057.4(PDE1C):c.1782C>T:p.Ala594=	coding	Benign
7	31815964	G	A	G31815964A	PDE1C	NM_001191057.4(PDE1C):c.1773C>T:p.Asn591=	coding	Benign
7	31816011	C	G	C31816011G	PDE1C	NM_001191057.4(PDE1C):c.1726G>C:p.Val576Leu	coding	Benign/Likely_benign
7	31822960	G	A	G31822960A	PDE1C	NM_001191057.4(PDE1C):c.1582+113C>T	noncoding	Benign
7	31823142	T	C	T31823142C	PDE1C	NM_001191057.4(PDE1C):c.1513A>G:p.Ser505Gly	coding	Benign
7	31823287	T	C	T31823287C	PDE1C	NM_001191057.4(PDE1C):c.1407-39A>G	noncoding	Benign
7	31823409	G	A	G31823409A	PDE1C	NM_001191057.4(PDE1C):c.1407-161C>T	noncoding	Benign
7	31828450	G	A	G31828450A	PDE1C	NM_001191057.4(PDE1C):c.1204-77C>T	noncoding	Benign
7	31836948	T	C	T31836948C	PDE1C	NM_001191057.4(PDE1C):c.1203+232A>G	noncoding	Benign
7	31837152	T	C	T31837152C	PDE1C	NM_001191057.4(PDE1C):c.1203+28A>G	noncoding	Benign
7	31837647	G	A	G31837647A	PDE1C	NM_001191057.4(PDE1C):c.1082+223C>T	noncoding	Benign
7	31850490	G	A	G31850490A	PDE1C	NM_001191057.4(PDE1C):c.851+151C>T	noncoding	Benign
7	31850492	T	C	T31850492C	PDE1C	NM_001191057.4(PDE1C):c.851+149A>G	noncoding	Benign
7	31864729	G	A	G31864729A	PDE1C	NM_001191057.4(PDE1C):c.750+213C>T	noncoding	Benign
7	31873180	C	T	C31873180T	PDE1C	NM_001191057.4(PDE1C):c.609+112G>A	noncoding	Benign
7	31878839	T	C	T31878839C	PDE1C	NM_001191057.4(PDE1C):c.425+157A>G	noncoding	Benign
7	31879266	C	T	C31879266T	PDE1C	NM_001191057.4(PDE1C):c.243-88G>A	noncoding	Benign
7	31879304	A	C	A31879304C	PDE1C	NM_001191057.4(PDE1C):c.243-126T>G	noncoding	Benign
7	31880782	G	A	G31880782A	PDE1C	NM_001191057.4(PDE1C):c.207C>T:p.Ala69=	coding	Benign
7	31880961	A	G	A31880961G	PDE1C	NM_001191057.4(PDE1C):c.129-101T>C	noncoding	Benign
7	32051603	A	T	A32051603T	PDE1C	NM_001191057.4(PDE1C):c.102-23T>A	noncoding	Benign
7	32070503	C	G	C32070503G	PDE1C	NM_001191057.3(PDE1C):c.-110G>C	coding	Benign
7	32070890	G	T	G32070890T	PDE1C	NM_005020.5(PDE1C):c.-3+316C>A	noncoding	Benign
7	32070902	G	C	G32070902C	PDE1C	NM_005020.5(PDE1C):c.-3+304C>G	noncoding	Benign
7	32169581	A	G	A32169581G	PDE1C	NM_001191058.4(PDE1C):c.308+204T>C	noncoding	Benign
7	32169615	A	C	A32169615C	PDE1C	NM_001191058.4(PDE1C):c.308+170T>G	noncoding	Benign
7	32169671	T	C	T32169671C	PDE1C	NM_001191058.4(PDE1C):c.308+114A>G	noncoding	Benign
7	32169747	A	G	A32169747G	PDE1C	NM_001191058.4(PDE1C):c.308+38T>C	noncoding	Benign
7	32169764	T	C	T32169764C	PDE1C	NM_001191058.4(PDE1C):c.308+21A>G	noncoding	Benign
7	32169847	C	T	C32169847T	PDE1C	NM_001322059.2(PDE1C):c.471G>A:p.Glu157_Ile158=	coding	Benign
7	32209298	G	T	G32209298T	PDE1C	NM_001191058.4(PDE1C):c.136+191C>A	noncoding	Benign
7	32209372	G	A	G32209372A	PDE1C	NM_001191058.4(PDE1C):c.136+117C>T	noncoding	Benign
7	32209604	A	G	A32209604G	PDE1C	NM_001191058.4(PDE1C):c.86-65T>C	noncoding	Benign
7	32209740	A	G	A32209740G	PDE1C	NM_001191058.4(PDE1C):c.86-201T>C	noncoding	Benign
7	32298725	G	A	G32298725A	PDE1C	NM_001322059.2(PDE1C):c.311-89186C>T	coding	Benign
7	32299236	A	T	A32299236T	PDE1C	NM_001191058.4(PDE1C):c.-501T>A	noncoding	Benign
7	32299490	T	C	T32299490C	PDE1C	NM_001322059.2(PDE1C):c.311-89951A>G	noncoding	Benign
7	32299545	T	C	T32299545C	PDE1C	NM_001322059.2(PDE1C):c.311-90006A>G	noncoding	Benign
7	33014500	A	G	A33014500G	NT5C3A	NM_001002010.5(NT5C3A):c.*230T>C	noncoding	Benign
7	33015098	C	T	C33015098T	NT5C3A	NM_001002010.5(NT5C3A):c.895-267G>A	noncoding	Benign
7	33015182	T	C	T33015182C	NT5C3A	NM_001002010.5(NT5C3A):c.895-351A>G	noncoding	Benign
7	33015846	C	A	C33015846A	NT5C3A	NM_001002010.5(NT5C3A):c.718G>T:p.Glu240Ter	coding	Pathogenic
7	33017308	G	A	G33017308A	NT5C3A	NM_001002010.5(NT5C3A):c.693+131C>T	noncoding	Benign
7	33017896	A	G	A33017896G	NT5C3A	NM_001002010.5(NT5C3A):c.531-295T>C	noncoding	Benign
7	33019795	A	G	A33019795G	NT5C3A	NM_001002010.5(NT5C3A):c.441-71T>C	noncoding	Benign
7	33021143	A	C	A33021143C	NT5C3A	NM_001002010.5(NT5C3A):c.440+129T>G	noncoding	Benign
7	33021623	T	C	T33021623C	NT5C3A	NM_001002010.5(NT5C3A):c.355-266A>G	noncoding	Benign
7	33021787	T	C	T33021787C	NT5C3A	NM_001002010.5(NT5C3A):c.354+266A>G	noncoding	Benign
7	33023880	A	G	A33023880G	NT5C3A	NM_001002010.5(NT5C3A):c.307+159T>C	noncoding	Benign
7	33026888	G	A	G33026888A	NT5C3A	NM_001002010.5(NT5C3A):c.166C>T:p.Arg56Ter	coding	Pathogenic
7	33026919	A	C	A33026919C	NT5C3A	NM_001002010.5(NT5C3A):c.139-4T>G	noncoding	Benign
7	33035636	A	G	A33035636G	NT5C3A	NM_001002010.5(NT5C3A):c.139-8721T>C	noncoding	Benign
7	33035961	A	G	A33035961G	NT5C3A	NM_001002010.5(NT5C3A):c.139-9046T>C	coding	Benign
7	33036183	C	T	C33036183T	NT5C3A	NM_001002010.5(NT5C3A):c.139-9268G>A	noncoding	Benign
7	33062355	C	T	C33062355T	NT5C3A	NM_001002010.5(NT5C3A):c.138+213G>A	noncoding	Benign
7	33062850	C	T	C33062850T	NT5C3A	Single_allele	noncoding	Benign
7	33062888	A	C	A33062888C	NT5C3A	Single_allele	noncoding	Benign
7	33062902	G	A	G33062902A	NT5C3A	Single_allele	noncoding	Benign
7	33063100	G	C	G33063100C	NT5C3A	Single_allele	noncoding	Benign
7	33099263	A	T	A33099263T	RP9	NM_203288.2(RP9):c.313+44T>A	noncoding	Benign
7	33109203	C	T	C33109203T	RP9	NM_203288.2(RP9):c.152+18G>A	noncoding	Benign
7	33145997	T	C	T33145997C	BBS9	NM_198428.3(BBS9):c.-11-245T>C	noncoding	Benign
7	33152554	T	C	T33152554C	BBS9	NM_198428.3(BBS9):c.113-147T>C	noncoding	Benign
7	33152979	G	T	G33152979T	BBS9	NM_198428.3(BBS9):c.263+128G>T	noncoding	Benign
7	33152988	C	T	C33152988T	BBS9	NM_198428.3(BBS9):c.263+137C>T	noncoding	Benign
7	33155507	G	A	G33155507A	BBS9	NM_198428.3(BBS9):c.264-131G>A	noncoding	Benign
7	33155914	T	C	T33155914C	BBS9	NM_198428.3(BBS9):c.328+212T>C	noncoding	Benign
7	33155948	G	C	G33155948C	BBS9	NM_198428.3(BBS9):c.328+246G>C	noncoding	Benign
7	33257335	C	G	C33257335G	BBS9	NM_198428.3(BBS9):c.542C>G:p.Pro181Arg	coding	Pathogenic
7	33264236	T	G	T33264236G	BBS9	NM_198428.3(BBS9):c.618-54T>G	noncoding	Benign
7	33264375	G	A	G33264375A	BBS9	NM_198428.3(BBS9):c.702+1G>A	coding	Pathogenic
7	33264495	A	G	A33264495G	BBS9	NM_198428.3(BBS9):c.702+121A>G	noncoding	Benign
7	33264606	T	C	T33264606C	BBS9	NM_198428.3(BBS9):c.702+232T>C	noncoding	Benign
7	33273414	A	C	A33273414C	BBS9	NM_198428.3(BBS9):c.886+219A>C	noncoding	Benign
7	33336544	C	T	C33336544T	BBS9	NM_198428.3(BBS9):c.1120C>T:p.Arg374Ter	coding	Pathogenic
7	33341061	T	C	T33341061C	BBS9	NM_198428.3(BBS9):c.1275+88T>C	noncoding	Benign
7	33344564	C	T	C33344564T	BBS9	NM_198428.3(BBS9):c.1276-17C>T	noncoding	Benign
7	33349006	C	T	C33349006T	BBS9	NM_198428.3(BBS9):c.1330-62C>T	noncoding	Benign
7	33349498	C	T	C33349498T	BBS9	NM_198428.3(BBS9):c.1432+328C>T	noncoding	Benign
7	33351260	A	T	A33351260T	BBS9	NM_198428.3(BBS9):c.1474A>T:p.Lys492Ter	coding	Pathogenic
7	33351477	G	A	G33351477A	BBS9	NM_198428.3(BBS9):c.1537+154G>A	noncoding	Benign
7	33351482	A	T	A33351482T	BBS9	NM_198428.3(BBS9):c.1537+159A>T	noncoding	Benign
7	33351527	T	A	T33351527A	BBS9	NM_198428.3(BBS9):c.1537+204T>A	noncoding	Benign
7	33352768	A	G	A33352768G	BBS9	NM_198428.3(BBS9):c.1538-91A>G	noncoding	Benign
7	33357753	G	A	G33357753A	BBS9	NM_198428.3(BBS9):c.1553-102G>A	noncoding	Benign
7	33357863	C	T	C33357863T	BBS9	NM_198428.3(BBS9):c.1561C>T:p.Arg521Ter	coding	Pathogenic
7	33367862	C	T	C33367862T	BBS9	NM_198428.3(BBS9):c.1789C>T:p.Gln597Ter	coding	Pathogenic
7	33368112	G	C	G33368112C	BBS9	NM_198428.3(BBS9):c.1789+250G>C	noncoding	Benign
7	33505443	G	A	G33505443A	BBS9	NM_198428.3(BBS9):c.2116-20G>A	noncoding	Benign
7	33533604	A	G	A33533604G	BBS9	NM_198428.3(BBS9):c.2299-350A>G	noncoding	Benign
7	33905968	C	T	C33905968T	BMPER	NM_001365308.1(BMPER):c.133+222C>T	noncoding	Benign
7	33906852	C	T	C33906852T	BMPER	NM_001365308.1(BMPER):c.168C>T:p.Val56=	coding	Benign
7	33906921	G	C	G33906921C	BMPER	NM_001365308.1(BMPER):c.219+18G>C	noncoding	Benign
7	33937021	C	T	C33937021T	BMPER	NM_001365308.1(BMPER):c.220-268C>T	noncoding	Benign
7	33937315	G	A	G33937315A	BMPER	NM_001365308.1(BMPER):c.246G>A:p.Glu82=	coding	Benign
7	33937406	C	T	C33937406T	BMPER	NM_001365308.1(BMPER):c.319+18C>T	noncoding	Benign
7	33937489	C	T	C33937489T	BMPER	NM_001365308.1(BMPER):c.319+101C>T	noncoding	Benign
7	33937538	A	G	A33937538G	BMPER	NM_001365308.1(BMPER):c.319+150A>G	noncoding	Benign
7	33966750	G	A	G33966750A	BMPER	NM_001365308.1(BMPER):c.402+189G>A	noncoding	Benign
7	33966783	A	T	A33966783T	BMPER	NM_001365308.1(BMPER):c.402+222A>T	noncoding	Benign
7	33974902	G	A	G33974902A	BMPER	NM_001365308.1(BMPER):c.576+118G>A	noncoding	Benign
7	34046020	C	T	C34046020T	BMPER	NM_001365308.1(BMPER):c.577-286C>T	noncoding	Benign
7	34051988	G	T	G34051988T	BMPER	NM_001365308.1(BMPER):c.786+18G>T	noncoding	Benign
7	34054928	C	G	C34054928G	BMPER	NM_001365308.1(BMPER):c.787-235C>G	noncoding	Benign
7	34055075	A	C	A34055075C	BMPER	NM_001365308.1(BMPER):c.787-88A>C	noncoding	Benign
7	34058073	G	A	G34058073A	BMPER	NM_001365308.1(BMPER):c.942G>A:p.Trp314Ter	coding	Pathogenic
7	34058244	G	A	G34058244A	BMPER	NM_001365308.1(BMPER):c.1032+81G>A	noncoding	Benign
7	34058279	T	G	T34058279G	BMPER	NM_001365308.1(BMPER):c.1032+116T>G	noncoding	Benign
7	34062052	G	A	G34062052A	BMPER	NM_001365308.1(BMPER):c.1078+5G>A	noncoding	Pathogenic
7	34078865	G	A	G34078865A	BMPER	NM_001365308.1(BMPER):c.1087G>A:p.Val363Ile	coding	Benign
7	34079037	C	A	C34079037A	BMPER	NM_001365308.1(BMPER):c.1259C>A:p.Ser420Ter	coding	Pathogenic
7	34085976	T	C	T34085976C	BMPER	NM_001365308.1(BMPER):c.1629T>C:p.Pro543=	coding	Benign
7	34086111	G	T	G34086111T	BMPER	NM_001365308.1(BMPER):c.1745+19G>T	noncoding	Benign
7	34086312	G	A	G34086312A	BMPER	NM_001365308.1(BMPER):c.1745+220G>A	noncoding	Benign
7	34143063	C	T	C34143063T	BMPER	NM_001365308.1(BMPER):c.1746-167C>T	noncoding	Benign
7	34143522	G	A	G34143522A	BMPER	NM_001365308.1(BMPER):c.1876+162G>A	noncoding	Benign
7	34152900	A	T	A34152900T	BMPER	NM_001365308.1(BMPER):c.1877-192A>T	noncoding	Benign
7	35202718	A	T	A35202718T	TBX20	NM_001077653.2(TBX20):c.1056T>A:p.Ser352=	coding	Benign/Likely_benign
7	35202742	C	T	C35202742T	TBX20	NM_001077653.2(TBX20):c.1032G>A:p.Leu344=	coding	Benign/Likely_benign
7	35231376	G	A	G35231376A	TBX20	NM_001077653.2(TBX20):c.890+128C>T	noncoding	Benign
7	35231642	T	C	T35231642C	TBX20	NM_001077653.2(TBX20):c.814-62A>G	noncoding	Benign
7	35240792	C	T	C35240792T	TBX20	NM_001077653.2(TBX20):c.813+87G>A	noncoding	Benign
7	35240862	G	A	G35240862A	TBX20	NM_001077653.2(TBX20):c.813+17C>T	noncoding	Benign
7	35241081	C	T	C35241081T	TBX20	NM_001077653.2(TBX20):c.655-44G>A	noncoding	Benign
7	35241335	C	T	C35241335T	TBX20	NM_001077653.2(TBX20):c.655-298G>A	noncoding	Benign
7	35248456	G	A	G35248456A	TBX20	NM_001077653.2(TBX20):c.545+221C>T	noncoding	Benign
7	35248521	G	A	G35248521A	TBX20	NM_001077653.2(TBX20):c.545+156C>T	noncoding	Benign
7	35248601	T	C	T35248601C	TBX20	NM_001077653.2(TBX20):c.545+76A>G	noncoding	Benign
7	35248664	T	C	T35248664C	TBX20	NM_001077653.2(TBX20):c.545+13A>G	noncoding	Benign
7	35248691	C	T	C35248691T	TBX20	NM_001077653.2(TBX20):c.531G>A:p.Pro177=	coding	Benign/Likely_benign
7	35250034	T	C	T35250034C	TBX20	NM_001077653.2(TBX20):c.297A>G:p.Lys99=	coding	Benign/Likely_benign
7	35250106	C	T	C35250106T	TBX20	NM_001077653.2(TBX20):c.225G>A:p.Pro75=	coding	Benign/Likely_benign
7	35250144	C	T	C35250144T	TBX20	NM_001077653.2(TBX20):c.187G>A:p.Ala63Thr	coding	Benign/Likely_benign
7	35253476	C	T	C35253476T	TBX20	NM_001077653.2(TBX20):c.127+18G>A	noncoding	Benign
7	35253805	C	T	C35253805T	TBX20	NM_001077653.2(TBX20):c.-185G>A	noncoding	Benign
7	35253806	A	G	A35253806G	TBX20	NM_001077653.2(TBX20):c.-186T>C	noncoding	Benign
7	35254361	A	G	A35254361G	TBX20	Single_allele	noncoding	Benign
7	36396136	C	G	C36396136G	ANLN	NM_018685.5(ANLN):c.19-130C>G	noncoding	Benign
7	36396347	A	G	A36396347G	ANLN	NM_018685.5(ANLN):c.100A>G:p.Met34Val	coding	Benign/Likely_benign
7	36396612	C	T	C36396612T	ANLN	NM_018685.5(ANLN):c.172+193C>T	noncoding	Benign
7	36398865	A	G	A36398865G	ANLN	NM_018685.5(ANLN):c.173-214A>G	noncoding	Benign
7	36399063	A	G	A36399063G	ANLN	NM_018685.5(ANLN):c.173-16A>G	noncoding	Benign/Likely_benign
7	36399066	G	A	G36399066A	ANLN	NM_018685.5(ANLN):c.173-13G>A	noncoding	Benign
7	36399100	C	G	C36399100G	ANLN	NM_018685.5(ANLN):c.194C>G:p.Ser65Trp	coding	Benign
7	36399173	G	A	G36399173A	ANLN	NM_018685.5(ANLN):c.267G>A:p.Glu89=	coding	Benign
7	36399340	G	A	G36399340A	ANLN	NM_018685.5(ANLN):c.434G>A:p.Arg145His	coding	Benign
7	36405980	T	A	T36405980A	ANLN	NM_018685.5(ANLN):c.488-201T>A	noncoding	Benign
7	36406010	A	G	A36406010G	ANLN	NM_018685.5(ANLN):c.488-171A>G	noncoding	Benign
7	36406291	G	A	G36406291A	ANLN	NM_018685.5(ANLN):c.598G>A:p.Gly200Ser	coding	Benign
7	36406512	A	G	A36406512G	ANLN	NM_018685.5(ANLN):c.819A>G:p.Leu273=	coding	Benign
7	36407678	A	G	A36407678G	ANLN	NM_018685.5(ANLN):c.874-56A>G	noncoding	Benign
7	36407850	G	A	G36407850A	ANLN	NM_018685.5(ANLN):c.990G>A:p.Ser330=	coding	Benign
7	36407991	T	C	T36407991C	ANLN	NM_018685.5(ANLN):c.1096+35T>C	noncoding	Benign
7	36410279	A	T	A36410279T	ANLN	NM_018685.5(ANLN):c.1097-235A>T	noncoding	Benign
7	36410280	T	A	T36410280A	ANLN	NM_018685.5(ANLN):c.1097-234T>A	noncoding	Benign
7	36410281	T	A	T36410281A	ANLN	NM_018685.5(ANLN):c.1097-233T>A	noncoding	Benign
7	36410566	A	G	A36410566G	ANLN	NM_018685.5(ANLN):c.1149A>G:p.Glu383=	coding	Benign
7	36410662	C	T	C36410662T	ANLN	NM_018685.5(ANLN):c.1245C>T:p.Asp415=	coding	Benign
7	36411022	C	T	C36411022T	ANLN	NM_018685.5(ANLN):c.1288-37C>T	noncoding	Benign
7	36411148	A	G	A36411148G	ANLN	NM_018685.5(ANLN):c.1377A>G:p.Lys459=	coding	Benign
7	36415868	T	C	T36415868C	ANLN	NM_018685.5(ANLN):c.1506T>C:p.Ser502=	coding	Benign
7	36417005	C	A	C36417005A	ANLN	NM_018685.5(ANLN):c.1523-75C>A	noncoding	Benign
7	36417093	C	T	C36417093T	ANLN	NM_018685.5(ANLN):c.1536C>T:p.Cys512=	coding	Benign
7	36417261	A	G	A36417261G	ANLN	NM_018685.5(ANLN):c.1633+71A>G	noncoding	Benign
7	36419219	G	A	G36419219A	ANLN	NM_018685.5(ANLN):c.1634-25G>A	noncoding	Benign
7	36419296	G	A	G36419296A	ANLN	NM_018685.5(ANLN):c.1686G>A:p.Ser562=	coding	Benign/Likely_benign
7	36419467	G	A	G36419467A	ANLN	NM_018685.5(ANLN):c.1857G>A:p.Val619=	coding	Benign
7	36420731	A	G	A36420731G	ANLN	NM_018685.5(ANLN):c.2150A>G:p.Lys717Arg	coding	Benign
7	36420858	T	A	T36420858A	ANLN	NM_018685.5(ANLN):c.2163+114T>A	noncoding	Benign
7	36421731	C	G	C36421731G	ANLN	NM_018685.5(ANLN):c.2164-126C>G	noncoding	Benign
7	36421833	T	C	T36421833C	ANLN	NM_018685.5(ANLN):c.2164-24T>C	noncoding	Benign
7	36422005	C	T	C36422005T	ANLN	NM_018685.5(ANLN):c.2299+13C>T	noncoding	Benign
7	36422596	G	A	G36422596A	ANLN	NM_018685.5(ANLN):c.2300-37G>A	noncoding	Benign
7	36422760	C	A	C36422760A	ANLN	NM_018685.5(ANLN):c.2427C>A:p.Ile809=	coding	Benign
7	36422761	C	T	C36422761T	ANLN	NM_018685.5(ANLN):c.2428C>T:p.Arg810Cys	coding	Benign
7	36422905	G	A	G36422905A	ANLN	NM_018685.5(ANLN):c.2476+96G>A	noncoding	Benign
7	36423033	A	G	A36423033G	ANLN	NM_018685.5(ANLN):c.2476+224A>G	noncoding	Benign
7	36423726	A	G	A36423726G	ANLN	NM_018685.5(ANLN):c.2477-91A>G	noncoding	Benign
7	36423861	G	A	G36423861A	ANLN	NM_018685.5(ANLN):c.2521G>A:p.Glu841Lys	coding	Benign
7	36424681	C	T	C36424681T	ANLN	NM_018685.5(ANLN):c.2653-5C>T	noncoding	Benign
7	36424688	G	T	G36424688T	ANLN	NM_018685.5(ANLN):c.2655G>T:p.Val885=	coding	Benign
7	36424927	G	C	G36424927C	ANLN	NM_018685.5(ANLN):c.2709+185G>C	noncoding	Benign
7	36425961	T	C	T36425961C	ANLN	NM_018685.5(ANLN):c.2749-54T>C	noncoding	Benign
7	36426023	C	T	C36426023T	ANLN	NM_018685.5(ANLN):c.2757C>T:p.Asn919=	coding	Benign
7	36426105	A	G	A36426105G	ANLN	NM_018685.5(ANLN):c.2770+69A>G	noncoding	Benign/Likely_benign
7	36427060	T	G	T36427060G	ANLN	NM_018685.5(ANLN):c.2883+32T>G	noncoding	Benign
7	36439068	G	A	G36439068A	ANLN	NM_018685.5(ANLN):c.2884-136G>A	noncoding	Benign
7	36439210	T	C	T36439210C	ANLN	NM_018685.5(ANLN):c.2890T>C:p.Phe964Leu	coding	Benign
7	36443604	T	C	T36443604C	ANLN	NM_018685.5(ANLN):c.2971-151T>C	noncoding	Benign
7	36443743	T	G	T36443743G	ANLN	NM_018685.5(ANLN):c.2971-12T>G	noncoding	Benign
7	36443841	T	C	T36443841C	ANLN	NM_018685.5(ANLN):c.3057T>C:p.Tyr1019=	coding	Benign
7	36449720	C	T	C36449720T	ANLN	NM_018685.5(ANLN):c.3134C>T:p.Ala1045Val	coding	Benign
7	36449844	A	G	A36449844G	ANLN	NM_018685.5(ANLN):c.3251+7A>G	noncoding	Benign
7	36449849	C	G	C36449849G	ANLN	NM_018685.5(ANLN):c.3251+12C>G	noncoding	Benign
7	36449854	A	G	A36449854G	ANLN	NM_018685.5(ANLN):c.3251+17A>G	noncoding	Benign
7	36449868	A	G	A36449868G	ANLN	NM_018685.5(ANLN):c.3251+31A>G	noncoding	Benign
7	36452202	G	A	G36452202A	ANLN	NM_018685.5(ANLN):c.3252-275G>A	noncoding	Benign
7	36452436	G	A	G36452436A	ANLN	NM_018685.5(ANLN):c.3252-41G>A	noncoding	Benign
7	36452550	A	G	A36452550G	ANLN	NM_018685.5(ANLN):c.3325A>G:p.Ile1109Val	coding	Benign/Likely_benign
7	36452591	A	C	A36452591C	ANLN	NM_018685.5(ANLN):c.3366A>C:p.Gly1122=	coding	Benign
7	36452603	C	T	C36452603T	ANLN	NM_018685.5(ANLN):c.*3C>T	noncoding	Benign
7	37850184	A	G	A37850184G	NME8	NM_016616.5(NME8):c.-7-76A>G	noncoding	Benign
7	37850264	T	C	T37850264C	NME8	NM_016616.5(NME8):c.-3T>C	noncoding	Benign/Likely_benign
7	37850979	A	G	A37850979G	NME8	NM_016616.5(NME8):c.198+244A>G	noncoding	Benign
7	37850987	A	G	A37850987G	NME8	NM_016616.5(NME8):c.198+252A>G	noncoding	Benign
7	37851005	T	C	T37851005C	NME8	NM_016616.5(NME8):c.198+270T>C	noncoding	Benign
7	37856997	A	C	A37856997C	NME8	NM_016616.5(NME8):c.199-277A>C	noncoding	Benign
7	37857099	G	A	G37857099A	NME8	NM_016616.5(NME8):c.199-175G>A	noncoding	Benign
7	37857581	C	T	C37857581T	NME8	NM_016616.5(NME8):c.270+236C>T	noncoding	Benign
7	37857594	T	C	T37857594C	NME8	NM_016616.5(NME8):c.270+249T>C	noncoding	Benign
7	37857596	A	C	A37857596C	NME8	NM_016616.5(NME8):c.270+251A>C	noncoding	Benign
7	37857607	G	A	G37857607A	NME8	NM_016616.5(NME8):c.270+262G>A	noncoding	Benign
7	37861783	T	C	T37861783C	NME8	NM_016616.5(NME8):c.271-245T>C	noncoding	Benign
7	37861888	C	T	C37861888T	NME8	NM_016616.5(NME8):c.271-140C>T	noncoding	Benign
7	37862430	G	A	G37862430A	NME8	NM_016616.5(NME8):c.387+286G>A	noncoding	Benign
7	37863218	T	G	T37863218G	NME8	NM_016616.5(NME8):c.388-178T>G	noncoding	Benign
7	37864244	T	C	T37864244C	NME8	NM_016616.5(NME8):c.455-104T>C	noncoding	Benign
7	37864251	A	T	A37864251T	NME8	NM_016616.5(NME8):c.455-97A>T	noncoding	Benign
7	37864497	G	A	G37864497A	NME8	NM_016616.5(NME8):c.528+76G>A	noncoding	Benign
7	37864665	C	A	C37864665A	NME8	NM_016616.5(NME8):c.528+244C>A	noncoding	Benign
7	37865818	G	A	G37865818A	NME8	NM_016616.5(NME8):c.621+201G>A	noncoding	Benign
7	37876709	A	T	A37876709T	NME8	NM_016616.5(NME8):c.819-123A>T	noncoding	Benign
7	37883987	C	A	C37883987A	NME8	NM_016616.5(NME8):c.995-316C>A	noncoding	Benign
7	37884247	G	A	G37884247A	NME8	NM_016616.5(NME8):c.995-56G>A	noncoding	Benign
7	37888100	G	A	G37888100A	NME8	NM_016616.5(NME8):c.1248-177G>A	noncoding	Benign
7	37888177	T	G	T37888177G	NME8	NM_016616.5(NME8):c.1248-100T>G	noncoding	Benign
7	37894381	C	G	C37894381G	NME8	NM_016616.5(NME8):c.1400-85C>G	noncoding	Benign
7	37894718	A	C	A37894718C	NME8	NM_016616.5(NME8):c.1544+108A>C	noncoding	Benign
7	37894800	A	C	A37894800C	NME8	NM_016616.5(NME8):c.1544+190A>C	noncoding	Benign
7	37894863	T	C	T37894863C	NME8	NM_016616.5(NME8):c.1544+253T>C	noncoding	Benign
7	37896684	C	T	C37896684T	NME8	NM_016616.5(NME8):c.1545-186C>T	noncoding	Benign
7	37896687	C	T	C37896687T	NME8	NM_016616.5(NME8):c.1545-183C>T	noncoding	Benign
7	37896782	T	C	T37896782C	NME8	NM_016616.5(NME8):c.1545-88T>C	noncoding	Benign
7	37896859	G	A	G37896859A	NME8	NM_016616.5(NME8):c.1545-11G>A	noncoding	Benign
7	37897431	T	C	T37897431C	NME8	NM_016616.5(NME8):c.*15+324T>C	noncoding	Benign
7	37907501	C	T	C37907501T	SFRP4	NM_003014.4(SFRP4):c.1019G>A:p.Arg340Lys	coding	Benign
7	37907562	G	T	G37907562T	SFRP4	NM_003014.4(SFRP4):c.958C>A:p.Pro320Thr	coding	Benign
7	37907605	G	A	G37907605A	SFRP4	NM_003014.4(SFRP4):c.915C>T:p.Ala305=	coding	Benign
7	37912124	G	A	G37912124A	SFRP4	NM_003014.4(SFRP4):c.786C>T:p.Arg262=	coding	Benign
7	37912133	G	A	G37912133A	SFRP4	NM_003014.4(SFRP4):c.777C>T:p.Tyr259=	coding	Benign
7	37914238	C	T	C37914238T	SFRP4	NM_003014.4(SFRP4):c.567G>A:p.Thr189=	coding	Benign
7	37916465	C	A	C37916465A	SFRP4	NM_003014.4(SFRP4):c.73G>T:p.Glu25Ter	coding	Pathogenic
7	38726125	T	C	T38726125C	VPS41	NM_014396.4(VPS41):c.*121A>G	noncoding	Benign
7	38726185	T	C	T38726185C	VPS41	NM_014396.4(VPS41):c.*61A>G	noncoding	Benign
7	38726749	C	T	C38726749T	VPS41	NM_014396.4(VPS41):c.2484+160G>A	noncoding	Benign
7	38727164	A	C	A38727164C	VPS41	NM_014396.4(VPS41):c.2405-176T>G	noncoding	Benign
7	38728574	C	A	C38728574A	VPS41	NM_014396.4(VPS41):c.2372G>T:p.Cys791Phe	coding	Pathogenic
7	38742222	C	T	C38742222T	VPS41	NM_014396.4(VPS41):c.2123-101G>A	noncoding	Benign
7	38742250	T	C	T38742250C	VPS41	NM_014396.4(VPS41):c.2123-129A>G	noncoding	Benign
7	38742254	T	C	T38742254C	VPS41	NM_014396.4(VPS41):c.2123-133A>G	noncoding	Benign
7	38742317	G	A	G38742317A	VPS41	NM_014396.4(VPS41):c.2123-196C>T	noncoding	Benign
7	38743297	A	G	A38743297G	VPS41	NM_014396.4(VPS41):c.2122+105T>C	noncoding	Benign
7	38743305	C	T	C38743305T	VPS41	NM_014396.4(VPS41):c.2122+97G>A	noncoding	Benign
7	38743344	A	G	A38743344G	VPS41	NM_014396.4(VPS41):c.2122+58T>C	noncoding	Benign
7	38743351	G	A	G38743351A	VPS41	NM_014396.4(VPS41):c.2122+51C>T	noncoding	Benign
7	38743540	G	A	G38743540A	VPS41	NM_014396.4(VPS41):c.1984C>T:p.Arg662Ter	coding	Pathogenic
7	38745462	G	A	G38745462A	VPS41	NM_014396.4(VPS41):c.1981+97C>T	noncoding	Benign
7	38752204	C	G	C38752204G	VPS41	NM_014396.4(VPS41):c.1898G>C:p.Arg633Pro	coding	Pathogenic
7	38756970	G	A	G38756970A	VPS41	NM_014396.4(VPS41):c.1563C>T:p.Asp521=	coding	Benign
7	38757148	C	T	C38757148T	VPS41	NM_014396.4(VPS41):c.1551-166G>A	noncoding	Benign
7	38758221	G	A	G38758221A	VPS41	NM_014396.4(VPS41):c.1550+133C>T	noncoding	Benign
7	38758483	T	C	T38758483C	VPS41	NM_014396.4(VPS41):c.1423-2A>G	noncoding	Pathogenic
7	38765615	C	T	C38765615T	VPS41	NM_014396.4(VPS41):c.1294G>A:p.Glu432Lys	coding	Benign
7	38773990	A	G	A38773990G	VPS41	NM_014396.4(VPS41):c.1012+125T>C	noncoding	Benign
7	38773997	G	C	G38773997C	VPS41	NM_014396.4(VPS41):c.1012+118C>G	noncoding	Benign
7	38774077	T	A	T38774077A	VPS41	NM_014396.4(VPS41):c.1012+38A>T	noncoding	Benign
7	38774111	C	T	C38774111T	VPS41	NM_014396.4(VPS41):c.1012+4G>A	noncoding	Benign
7	38776512	G	A	G38776512A	VPS41	NM_014396.4(VPS41):c.882+167C>T	noncoding	Benign
7	38776708	A	G	A38776708G	VPS41	NM_014396.4(VPS41):c.853T>C:p.Ser285Pro	coding	Pathogenic
7	38776841	A	G	A38776841G	VPS41	NM_014396.4(VPS41):c.785-65T>C	noncoding	Benign
7	38776887	G	A	G38776887A	VPS41	NM_014396.4(VPS41):c.785-111C>T	noncoding	Benign
7	38789747	C	T	C38789747T	VPS41	NM_014396.4(VPS41):c.784+54G>A	noncoding	Benign
7	38789865	C	T	C38789865T	VPS41	NM_014396.4(VPS41):c.720G>A:p.Val240=	coding	Benign
7	38795268	C	T	C38795268T	VPS41	NM_014396.4(VPS41):c.717+197G>A	noncoding	Benign
7	38795435	C	T	C38795435T	VPS41	NM_014396.4(VPS41):c.717+30G>A	noncoding	Benign
7	38817764	G	A	G38817764A	VPS41	NM_014396.4(VPS41):c.450+53C>T	noncoding	Benign
7	38817816	C	A	C38817816A	VPS41	NM_014396.4(VPS41):c.450+1G>T	noncoding	Pathogenic
7	38821037	T	G	T38821037G	VPS41	NM_014396.4(VPS41):c.384+166A>C	noncoding	Benign
7	38821333	A	G	A38821333G	VPS41	NM_014396.4(VPS41):c.322-68T>C	noncoding	Benign
7	38821383	G	A	G38821383A	VPS41	NM_014396.4(VPS41):c.322-118C>T	noncoding	Benign
7	38830108	C	T	C38830108T	VPS41	NM_014396.4(VPS41):c.321+146G>A	noncoding	Benign
7	38830502	G	A	G38830502A	VPS41	NM_014396.4(VPS41):c.247-174C>T	noncoding	Benign
7	38869022	G	C	G38869022C	VPS41	NM_014396.4(VPS41):c.168+124C>G	noncoding	Benign
7	38869276	T	C	T38869276C	VPS41	NM_014396.4(VPS41):c.61-23A>G	noncoding	Benign
7	38908995	C	T	C38908995T	VPS41	NM_014396.4(VPS41):c.21+159G>A	noncoding	Benign
7	38978015	C	G	C38978015G	POU6F2	NM_001370959.1(POU6F2):c.62C>G:p.Ser21Ter	noncoding	Pathogenic
7	39686671	G	A	G39686671A	RALA	NM_005402.4(RALA):c.4G>A:p.Ala2Thr	coding	Benign
7	39696750	A	G	A39696750G	RALA	NM_005402.4(RALA):c.389A>G:p.Asp130Gly	coding	Pathogenic
7	39696830	T	G	T39696830G	RALA	NM_005402.4(RALA):c.469T>G:p.Ser157Ala	coding	Pathogenic
7	39696831	C	T	C39696831T	RALA	NM_005402.4(RALA):c.470C>T:p.Ser157Phe	coding	Pathogenic
7	39696876	T	A	T39696876A	RALA	NM_005402.4(RALA):c.498+17T>A	noncoding	Benign
7	39706155	G	A	G39706155A	RALA	NM_005402.4(RALA):c.531G>A:p.Ala177=	coding	Benign
7	39951095	C	T	C39951095T	CDK13	NM_003718.5(CDK13):c.454C>T:p.Gln152Ter	coding	Pathogenic
7	39952074	G	A	G39952074A	CDK13	NM_003718.5(CDK13):c.1211+222G>A	noncoding	Benign
7	39987885	A	G	A39987885G	CDK13	NM_003718.5(CDK13):c.1498A>G:p.Thr500Ala	coding	Benign
7	39988473	G	A	G39988473A	CDK13	NM_003718.5(CDK13):c.1871+215G>A	noncoding	Benign
7	39999108	T	C	T39999108C	CDK13	NM_003718.5(CDK13):c.2043-253T>C	noncoding	Benign
7	39999151	A	C	A39999151C	CDK13	NM_003718.5(CDK13):c.2043-210A>C	noncoding	Benign
7	39999646	A	G	A39999646G	CDK13	NM_003718.5(CDK13):c.2182+146A>G	noncoding	Benign
7	40001572	T	G	T40001572G	CDK13	NM_003718.5(CDK13):c.2183-289T>G	noncoding	Benign
7	40001905	G	T	G40001905T	CDK13	NM_003718.5(CDK13):c.2227G>T:p.Glu743Ter	coding	Pathogenic
7	40002203	G	A	G40002203A	CDK13	NM_003718.5(CDK13):c.2353+172G>A	noncoding	Benign
7	40045601	A	T	A40045601T	CDK13	NM_003718.5(CDK13):c.2354-235A>T	noncoding	Benign
7	40046006	A	G	A40046006G	CDK13	NM_003718.5(CDK13):c.2524A>G:p.Asn842Asp	coding	Pathogenic/Likely_pathogenic
7	40047856	G	A	G40047856A	CDK13	NM_003718.5(CDK13):c.2579G>A:p.Arg860Gln	coding	Pathogenic
7	40048153	A	G	A40048153G	CDK13	NM_003718.5(CDK13):c.2600+276A>G	noncoding	Benign
7	40062836	A	G	A40062836G	CDK13	NM_003718.5(CDK13):c.2611A>G:p.Thr871Ala	coding	Pathogenic/Likely_pathogenic
7	40062845	G	T	G40062845T	CDK13	NM_003718.5(CDK13):c.2620G>T:p.Val874Leu	coding	Pathogenic
7	40062863	C	T	C40062863T	CDK13	NM_003718.5(CDK13):c.2638C>T:p.Arg880Cys	coding	Pathogenic/Likely_pathogenic
7	40078466	A	G	A40078466G	CDK13	NM_003718.5(CDK13):c.2898-254A>G	noncoding	Benign
7	40088168	G	A	G40088168A	CDK13	NM_003718.5(CDK13):c.3072G>A:p.Lys1024=	coding	Benign
7	40088169	C	T	C40088169T	CDK13	NM_003718.5(CDK13):c.3073C>T:p.Arg1025Ter	coding	Pathogenic/Likely_pathogenic
7	40092568	A	G	A40092568G	CDK13	NM_003718.5(CDK13):c.3236-217A>G	noncoding	Benign
7	40093445	G	A	G40093445A	CDK13	NM_003718.5(CDK13):c.3688+208G>A	noncoding	Benign
7	40093964	A	G	A40093964G	CDK13	NM_003718.5(CDK13):c.3689-166A>G	noncoding	Benign
7	40094380	T	C	T40094380C	CDK13	NM_003718.5(CDK13):c.3939T>C:p.Asp1313=	coding	Benign
7	40095079	A	G	A40095079G	CDK13	NM_003718.5(CDK13):c.*99A>G	noncoding	Benign
7	40132906	T	G	T40132906G	MPLKIP	NM_138701.4(MPLKIP):c.*153A>C	noncoding	Benign
7	40133147	C	G	C40133147G	MPLKIP	NM_138701.4(MPLKIP):c.452G>C:p.Gly151Ala	coding	Benign
7	40133382	T	C	T40133382C	MPLKIP	NM_138701.4(MPLKIP):c.340-123A>G	noncoding	Benign
7	40133398	T	C	T40133398C	MPLKIP	NM_138701.4(MPLKIP):c.340-139A>G	noncoding	Benign
7	40134081	T	C	T40134081C	MPLKIP	NM_138701.4(MPLKIP):c.339+148A>G	noncoding	Benign
7	40134519	C	G	C40134519G	MPLKIP	NM_138701.4(MPLKIP):c.49G>C:p.Gly17Arg	coding	Benign
7	40180813	T	C	T40180813C	SUGCT	NM_001193313.2(SUGCT):c.101-134T>C	noncoding	Benign
7	40180876	A	G	A40180876G	SUGCT	NM_001193313.2(SUGCT):c.101-71A>G	noncoding	Benign
7	40180908	C	G	C40180908G	SUGCT	NM_001193313.2(SUGCT):c.101-39C>G	noncoding	Benign
7	40181126	G	A	G40181126A	SUGCT	NM_001193313.2(SUGCT):c.152+128G>A	noncoding	Benign
7	40188636	A	T	A40188636T	SUGCT	NM_001193313.2(SUGCT):c.312+56A>T	noncoding	Benign
7	40189530	T	A	T40189530A	SUGCT	NM_001193313.2(SUGCT):c.313-14T>A	noncoding	Benign
7	40194816	G	T	G40194816T	SUGCT	NM_001193313.2(SUGCT):c.364-124G>T	noncoding	Benign
7	40274456	A	C	A40274456C	SUGCT	NM_001193313.2(SUGCT):c.577-57A>C	noncoding	Benign
7	40274754	A	G	A40274754G	SUGCT	NM_001193313.2(SUGCT):c.720+98A>G	noncoding	Benign
7	40316555	T	C	T40316555C	SUGCT	NM_001193313.2(SUGCT):c.721-205T>C	noncoding	Benign
7	40316706	G	A	G40316706A	SUGCT	NM_001193313.2(SUGCT):c.721-54G>A	noncoding	Benign
7	40316716	A	T	A40316716T	SUGCT	NM_001193313.2(SUGCT):c.721-44A>T	noncoding	Benign
7	40317118	G	A	G40317118A	SUGCT	NM_001193313.2(SUGCT):c.816+263G>A	noncoding	Benign
7	40317125	G	A	G40317125A	SUGCT	NM_001193313.2(SUGCT):c.816+270G>A	noncoding	Benign
7	40449253	A	C	A40449253C	SUGCT	NM_001193313.2(SUGCT):c.817-34A>C	noncoding	Benign
7	40449484	C	T	C40449484T	SUGCT	NM_001193313.2(SUGCT):c.888+126C>T	noncoding	Benign
7	40459230	G	T	G40459230T	SUGCT	NM_001193313.2(SUGCT):c.986+32G>T	noncoding	Benign
7	40683767	C	T	C40683767T	SUGCT	NM_001193313.2(SUGCT):c.1090-65667C>T	noncoding	Benign
7	40860047	T	C	T40860047C	SUGCT	NM_001193313.2(SUGCT):c.1154-269T>C	noncoding	Benign
7	40860053	C	T	C40860053T	SUGCT	NM_001193313.2(SUGCT):c.1154-263C>T	noncoding	Benign
7	40860576	A	G	A40860576G	SUGCT	NM_001193313.2(SUGCT):c.*97A>G	noncoding	Benign
7	40860741	T	A	T40860741A	SUGCT	NM_001193313.2(SUGCT):c.*262T>A	noncoding	Benign
7	41960903	C	T	C41960903T	GLI3	Single_allele	noncoding	Benign
7	41964321	T	C	T41964321C	GLI3	NM_000168.6(GLI3):c.*9A>G	noncoding	Benign
7	41964566	G	A	G41964566A	GLI3	NM_000168.6(GLI3):c.4507C>T:p.Gln1503Ter	coding	Pathogenic
7	41964893	G	A	G41964893A	GLI3	NM_000168.6(GLI3):c.4180C>T:p.Arg1394Cys	coding	Benign
7	41965180	G	A	G41965180A	GLI3	NM_000168.6(GLI3):c.3893C>T:p.Pro1298Leu	coding	Benign
7	41965311	A	C	A41965311C	GLI3	NM_000168.6(GLI3):c.3762T>G:p.Tyr1254Ter	coding	Pathogenic
7	41965748	C	A	C41965748A	GLI3	NM_000168.6(GLI3):c.3325G>T:p.Glu1109Ter	coding	Pathogenic
7	41966479	G	C	G41966479C	GLI3	NM_000168.6(GLI3):c.2594C>G:p.Ser865Ter	coding	Pathogenic
7	41966642	C	T	C41966642T	GLI3	NM_000168.6(GLI3):c.2432-1G>A	coding	Pathogenic
7	41966657	G	A	G41966657A	GLI3	NM_000168.6(GLI3):c.2432-16C>T	noncoding	Benign
7	41967719	C	A	C41967719A	GLI3	NM_000168.6(GLI3):c.2308G>T:p.Ala770Ser	coding	Benign
7	41968132	A	C	A41968132C	GLI3	NM_000168.6(GLI3):c.2104-209T>G	noncoding	Benign
7	41972335	A	T	A41972335T	GLI3	NM_000168.6(GLI3):c.2103+2T>A	noncoding	Pathogenic
7	41972441	G	A	G41972441A	GLI3	NM_000168.6(GLI3):c.1999C>T:p.Arg667Ter	coding	Pathogenic
7	41972642	A	G	A41972642G	GLI3	NM_000168.6(GLI3):c.1813-15T>C	noncoding	Benign
7	41977697	G	T	G41977697T	GLI3	NM_000168.6(GLI3):c.1673C>A:p.Ser558Ter	coding	Pathogenic
7	42023501	C	T	C42023501T	GLI3	NM_000168.6(GLI3):c.1464G>A:p.Ala488=	coding	Benign
7	42025036	C	T	C42025036T	GLI3	NM_000168.6(GLI3):c.1356+228G>A	noncoding	Benign
7	42026191	C	T	C42026191T	GLI3	NM_000168.6(GLI3):c.1242+8G>A	noncoding	Benign
7	42040037	C	T	C42040037T	GLI3	NM_000168.6(GLI3):c.1028+1G>A	noncoding	Pathogenic/Likely_pathogenic
7	42040443	G	A	G42040443A	GLI3	NM_000168.6(GLI3):c.827-204C>T	noncoding	Benign
7	42045230	A	G	A42045230G	GLI3	NM_000168.6(GLI3):c.826+154T>C	noncoding	Benign
7	42048367	A	G	A42048367G	GLI3	NM_000168.6(GLI3):c.679+124T>C	noncoding	Benign
7	42048520	G	C	G42048520C	GLI3	NM_000168.6(GLI3):c.650C>G:p.Ser217Ter	coding	Pathogenic
7	42048871	A	C	A42048871C	GLI3	NM_000168.6(GLI3):c.474-175T>G	noncoding	Benign
7	42076751	C	T	C42076751T	GLI3	NM_000168.6(GLI3):c.473+1G>A	noncoding	Pathogenic
7	42076787	G	C	G42076787C	GLI3	NM_000168.6(GLI3):c.438C>G:p.Tyr146Ter	coding	Pathogenic
7	42148227	G	T	G42148227T	GLI3	NM_000168.6(GLI3):c.366C>A:p.Tyr122Ter	coding	Pathogenic
7	42148801	C	A	C42148801A	GLI3	NM_000168.6(GLI3):c.125-333G>T	noncoding	Benign
7	42223069	G	T	G42223069T	GLI3	NM_000168.6(GLI3):c.124+61C>A	noncoding	Benign
7	42236747	C	G	C42236747G	GLI3	NM_000168.6(GLI3):c.-43+224G>C	noncoding	Benign
7	43552233	G	A	G43552233A	HECW1	NM_015052.5(HECW1):c.4407G>A:p.Ser1469=	coding	Benign
7	43552356	A	G	A43552356G	HECW1	NM_015052.5(HECW1):c.4510+20A>G	noncoding	Benign
7	44062706	C	T	C44062706T	PGAM2	NM_001014436.3(DBNL):c.*1790C>T	noncoding	Benign
7	44062933	A	G	A44062933G	PGAM2	NM_001014436.3(DBNL):c.*2017A>G	noncoding	Benign/Likely_benign
7	44064620	A	G	A44064620G	PGAM2	NM_000290.4(PGAM2):c.595+212T>C	noncoding	Benign
7	44065199	G	A	G44065199A	PGAM2	NM_000290.4(PGAM2):c.331C>T:p.Gln111Ter	coding	Pathogenic
7	44065740	G	A	G44065740A	PGAM2	NM_001014436.3(DBNL):c.*4824G>A	noncoding	Benign
7	44104602	C	G	C44104602G	AEBP1	NM_001129.5(AEBP1):c.-64C>G	noncoding	Benign
7	44104685	C	A	C44104685A	AEBP1	NM_001129.5(AEBP1):c.20C>A:p.Ala7Glu	coding	Benign/Likely_benign
7	44104686	G	A	G44104686A	AEBP1	NM_001129.5(AEBP1):c.21G>A:p.Ala7=	coding	Benign/Likely_benign
7	44105180	C	T	C44105180T	AEBP1	NM_001129.5(AEBP1):c.253+262C>T	noncoding	Benign
7	44106311	C	T	C44106311T	AEBP1	NM_001129.5(AEBP1):c.254-235C>T	noncoding	Benign
7	44106640	G	A	G44106640A	AEBP1	NM_001129.5(AEBP1):c.348G>A:p.Pro116=	coding	Benign
7	44106676	C	G	C44106676G	AEBP1	NM_001129.5(AEBP1):c.384C>G:p.Thr128=	coding	Benign
7	44106757	G	A	G44106757A	AEBP1	NM_001129.5(AEBP1):c.465G>A:p.Glu155=	coding	Benign
7	44107184	G	T	G44107184T	AEBP1	NM_001129.5(AEBP1):c.596-255G>T	noncoding	Benign
7	44107566	G	A	G44107566A	AEBP1	NM_001129.5(AEBP1):c.667+56G>A	noncoding	Benign
7	44107594	G	A	G44107594A	AEBP1	NM_001129.5(AEBP1):c.668-35G>A	noncoding	Benign
7	44107616	G	T	G44107616T	AEBP1	NM_001129.5(AEBP1):c.668-13G>T	noncoding	Benign
7	44107886	C	A	C44107886A	AEBP1	NM_001129.5(AEBP1):c.817C>A:p.Pro273Thr	coding	Benign
7	44107914	C	T	C44107914T	AEBP1	NM_001129.5(AEBP1):c.845C>T:p.Ala282Val	coding	Benign
7	44107988	A	G	A44107988G	AEBP1	NM_001129.5(AEBP1):c.863-19A>G	noncoding	Benign
7	44108789	C	T	C44108789T	AEBP1	NM_001129.5(AEBP1):c.941-110C>T	noncoding	Benign
7	44108808	G	A	G44108808A	AEBP1	NM_001129.5(AEBP1):c.941-91G>A	noncoding	Benign
7	44108954	A	G	A44108954G	AEBP1	NM_001129.5(AEBP1):c.996A>G:p.Thr332=	coding	Benign
7	44109097	C	T	C44109097T	AEBP1	NM_001129.5(AEBP1):c.1019-10C>T	noncoding	Benign/Likely_benign
7	44109155	G	A	G44109155A	AEBP1	NM_001129.5(AEBP1):c.1067G>A:p.Trp356Ter	coding	Pathogenic
7	44109506	G	A	G44109506A	AEBP1	NM_001129.5(AEBP1):c.1150+165G>A	noncoding	Benign
7	44109775	T	A	T44109775A	AEBP1	NM_001129.5(AEBP1):c.1151-240T>A	noncoding	Benign
7	44109858	G	C	G44109858C	AEBP1	NM_001129.5(AEBP1):c.1151-157G>C	noncoding	Benign
7	44110004	C	T	C44110004T	AEBP1	NM_001129.5(AEBP1):c.1151-11C>T	noncoding	Benign/Likely_benign
7	44110006	C	T	C44110006T	AEBP1	NM_001129.5(AEBP1):c.1151-9C>T	noncoding	Benign
7	44110007	G	A	G44110007A	AEBP1	NM_001129.5(AEBP1):c.1151-8G>A	noncoding	Benign
7	44110520	C	T	C44110520T	AEBP1	NM_001129.5(AEBP1):c.1400+174C>T	noncoding	Benign
7	44111002	C	G	C44111002G	AEBP1	NM_001129.5(AEBP1):c.1575C>G:p.Leu525=	coding	Benign
7	44111410	C	T	C44111410T	AEBP1	NM_001129.5(AEBP1):c.1717-97C>T	noncoding	Benign
7	44111509	C	T	C44111509T	AEBP1	NM_001129.5(AEBP1):c.1719C>T:p.Leu573=	coding	Benign/Likely_benign
7	44111573	C	T	C44111573T	AEBP1	NM_001129.5(AEBP1):c.1783C>T:p.Arg595Ter	coding	Pathogenic
7	44111938	T	C	T44111938C	AEBP1	NM_001129.5(AEBP1):c.1925T>C:p.Leu642Pro	coding	Pathogenic
7	44112067	G	A	G44112067A	AEBP1	NM_001129.5(AEBP1):c.2037+17G>A	noncoding	Benign
7	44112629	C	T	C44112629T	AEBP1	NM_001129.5(AEBP1):c.2289C>T:p.Asn763=	coding	Benign
7	44112950	G	A	G44112950A	AEBP1	NM_001129.5(AEBP1):c.2569+41G>A	noncoding	Benign
7	44113025	C	T	C44113025T	AEBP1	NM_001129.5(AEBP1):c.2604C>T:p.Cys868=	coding	Benign
7	44113378	A	G	A44113378G	AEBP1	NM_001129.5(AEBP1):c.2809+27A>G	noncoding	Benign
7	44113637	C	A	C44113637A	AEBP1	NM_001129.5(AEBP1):c.2853C>A:p.Tyr951Ter	coding	Pathogenic
7	44114015	C	G	C44114015G	AEBP1	NM_001129.5(AEBP1):c.3231C>G:p.Gly1077=	coding	Benign
7	44114181	A	G	A44114181G	AEBP1	NM_001129.5(AEBP1):c.3397A>G:p.Lys1133Glu	coding	Benign
7	44114226	G	A	G44114226A	AEBP1	NM_001129.5(AEBP1):c.3442G>A:p.Val1148Ile	coding	Benign
7	44145176	G	A	G44145176A	GCK	NM_000162.5(GCK):c.1358C>T:p.Ser453Leu	coding	Pathogenic/Likely_pathogenic
7	44145194	C	T	C44145194T	GCK	NM_000162.5(GCK):c.1340G>A:p.Arg447Gln	coding	Pathogenic/Likely_pathogenic
7	44145195	G	C	G44145195C	GCK	NM_000162.5(GCK):c.1339C>G:p.Arg447Gly	coding	Pathogenic/Likely_pathogenic
7	44145210	C	A	C44145210A	GCK	NM_000162.5(GCK):c.1324G>T:p.Glu442Ter	coding	Pathogenic
7	44145212	G	C	G44145212C	GCK	NM_000162.5(GCK):c.1322C>G:p.Ser441Trp	coding	Pathogenic
7	44145496	C	G	C44145496G	GCK	NM_000162.5(GCK):c.1253+1G>C	noncoding	Pathogenic
7	44145503	T	C	T44145503C	GCK	NM_000162.5(GCK):c.1247A>G:p.His416Arg	coding	Pathogenic
7	44145510	T	C	T44145510C	GCK	NM_000162.5(GCK):c.1240A>G:p.Lys414Glu	coding	Pathogenic/Likely_pathogenic
7	44145614	G	A	G44145614A	GCK	NM_000162.5(GCK):c.1136C>T:p.Ala379Val	coding	Pathogenic/Likely_pathogenic
7	44145614	G	T	G44145614T	GCK	NM_000162.5(GCK):c.1136C>A:p.Ala379Glu	coding	Pathogenic/Likely_pathogenic
7	44146159	C	G	C44146159G	GCK	NM_000162.5(GCK):c.1019+304G>C	noncoding	Benign
7	44146289	C	A	C44146289A	GCK	NM_000162.5(GCK):c.1019+174G>T	noncoding	Benign
7	44146356	A	G	A44146356G	GCK	NM_000162.5(GCK):c.1019+107T>C	noncoding	Benign
7	44146475	G	T	G44146475T	GCK	NM_000162.5(GCK):c.1007C>A:p.Ser336Ter	coding	Pathogenic
7	44146500	C	A	C44146500A	GCK	NM_000162.5(GCK):c.982G>T:p.Gly328Ter	coding	Pathogenic
7	44146556	A	G	A44146556G	GCK	NM_000162.5(GCK):c.926T>C:p.Leu309Pro	coding	Pathogenic
7	44146615	A	T	A44146615T	GCK	NM_000162.5(GCK):c.867T>A:p.Tyr289Ter	coding	Pathogenic
7	44147762	T	C	T44147762C	GCK	NM_000162.5(GCK):c.751A>G:p.Met251Val	coding	Pathogenic
7	44147785	A	G	A44147785G	GCK	NM_000162.5(GCK):c.728T>C:p.Leu243Pro	coding	Pathogenic
7	44147810	T	C	T44147810C	GCK	NM_000162.5(GCK):c.703A>G:p.Met235Val	coding	Pathogenic/Likely_pathogenic
7	44147818	G	T	G44147818T	GCK	NM_000162.5(GCK):c.695C>A:p.Ala232Asp	coding	Pathogenic
7	44149675	T	C	T44149675C	GCK	NM_000162.5(GCK):c.679+85A>G	noncoding	Benign
7	44149759	C	T	C44149759T	GCK	NM_000162.5(GCK):c.679+1G>A	noncoding	Pathogenic
7	44149779	G	T	G44149779T	GCK	NM_000162.5(GCK):c.660C>A:p.Cys220Ter	coding	Pathogenic
7	44149822	G	A	G44149822A	GCK	NM_000162.5(GCK):c.617C>T:p.Thr206Met	coding	Pathogenic/Likely_pathogenic
7	44149968	C	T	C44149968T	GCK	NM_000162.5(GCK):c.579+1G>A	noncoding	Pathogenic
7	44149969	C	A	C44149969A	GCK	NM_000162.5(GCK):c.579G>T:p.Gly193=	coding	Pathogenic
7	44149980	T	A	T44149980A	GCK	NM_000162.5(GCK):c.568A>T:p.Lys190Ter	coding	Pathogenic
7	44150047	C	G	C44150047G	GCK	NM_000162.5(GCK):c.501G>C:p.Trp167Cys	coding	Pathogenic
7	44150047	C	T	C44150047T	GCK	NM_000162.5(GCK):c.501G>A:p.Trp167Ter	coding	Pathogenic
7	44150066	T	C	T44150066C	GCK	NM_000162.5(GCK):c.484-2A>G	noncoding	Pathogenic
7	44150093	C	G	C44150093G	GCK	NM_000162.5(GCK):c.484-29G>C	noncoding	Benign
7	44150898	T	A	T44150898A	GCK	NM_000162.5(GCK):c.483+58A>T	noncoding	Benign
7	44150955	C	T	C44150955T	GCK	NM_000162.5(GCK):c.483+1G>A	noncoding	Pathogenic
7	44150970	C	A	C44150970A	GCK	NM_000162.5(GCK):c.469G>T:p.Glu157Ter	coding	Pathogenic
7	44150970	C	T	C44150970T	GCK	NM_000162.5(GCK):c.469G>A:p.Glu157Lys	coding	Pathogenic/Likely_pathogenic
7	44151953	C	T	C44151953T	GCK	NM_000162.5(GCK):c.363+318G>A	noncoding	Benign
7	44152318	G	A	G44152318A	GCK	NM_000162.5(GCK):c.316C>T:p.Gln106Ter	coding	Pathogenic/Likely_pathogenic
7	44152338	C	T	C44152338T	GCK	NM_000162.5(GCK):c.296G>A:p.Trp99Ter	coding	Pathogenic
7	44152348	C	A	C44152348A	GCK	NM_000162.5(GCK):c.286G>T:p.Glu96Ter	coding	Pathogenic
7	44152426	C	T	C44152426T	GCK	NM_000162.5(GCK):c.209-1G>A	coding	Pathogenic
7	44152604	A	G	A44152604G	GCK	NM_000162.5(GCK):c.209-179T>C	noncoding	Benign
7	44153299	A	G	A44153299G	GCK	NM_000162.5(GCK):c.208+2T>C	noncoding	Pathogenic/Likely_pathogenic
7	44153324	A	G	A44153324G	GCK	NM_000162.5(GCK):c.185T>C:p.Val62Ala	coding	Pathogenic/Likely_pathogenic
7	44153358	C	A	C44153358A	GCK	NM_000162.5(GCK):c.151G>T:p.Glu51Ter	coding	Pathogenic
7	44153371	C	T	C44153371T	GCK	NM_000162.5(GCK):c.138G>A:p.Arg46=	coding	Benign/Likely_benign
7	44153381	C	T	C44153381T	GCK	NM_000162.5(GCK):c.128G>A:p.Arg43His	coding	Pathogenic/Likely_pathogenic
7	44157854	A	G	A44157854G	GCK	NM_000162.5(GCK):c.46-4391T>C	noncoding	Benign
7	44158176	C	T	C44158176T	GCK	NM_000162.5(GCK):c.46-4713G>A	coding	Benign
7	44189469	C	T	C44189469T	GCK	Single_allele	noncoding	Benign
7	44189633	T	C	T44189633C	GCK	Single_allele	noncoding	Benign
7	44189721	G	A	G44189721A	GCK	Single_allele	noncoding	Benign
7	44220107	G	A	G44220107A	CAMK2B	NM_001220.5(CAMK2B):c.1956C>T:p.Asn652=	coding	Benign
7	44220130	G	A	G44220130A	CAMK2B	NM_001220.5(CAMK2B):c.1933C>T:p.Arg645Cys	coding	Benign
7	44220140	G	A	G44220140A	CAMK2B	NM_001220.5(CAMK2B):c.1923C>T:p.Arg641=	coding	Benign
7	44220164	G	A	G44220164A	CAMK2B	NM_001220.5(CAMK2B):c.1899C>T:p.Arg633=	coding	Benign
7	44220165	C	T	C44220165T	CAMK2B	NM_001220.5(CAMK2B):c.1898G>A:p.Arg633His	coding	Benign
7	44220194	C	T	C44220194T	CAMK2B	NM_001220.5(CAMK2B):c.1869G>A:p.Thr623=	coding	Benign
7	44220272	C	G	C44220272G	CAMK2B	NM_001220.5(CAMK2B):c.1791G>C:p.Pro597=	coding	Benign
7	44220272	C	T	C44220272T	CAMK2B	NM_001220.5(CAMK2B):c.1791G>A:p.Pro597=	coding	Benign
7	44226478	G	A	G44226478A	CAMK2B	NM_001220.5(CAMK2B):c.1597+38C>T	noncoding	Benign
7	44226536	G	A	G44226536A	CAMK2B	NM_001220.5(CAMK2B):c.1577C>T:p.Pro526Leu	coding	Benign
7	44226560	G	A	G44226560A	CAMK2B	NM_001220.5(CAMK2B):c.1553C>T:p.Pro518Leu	coding	Benign
7	44226585	C	T	C44226585T	CAMK2B	NM_001220.5(CAMK2B):c.1528G>A:p.Glu510Lys	coding	Benign
7	44228782	G	A	G44228782A	CAMK2B	NM_001220.5(CAMK2B):c.1468+14C>T	noncoding	Benign
7	44228818	G	A	G44228818A	CAMK2B	NM_001220.5(CAMK2B):c.1446C>T:p.Leu482=	coding	Benign/Likely_benign
7	44228845	C	T	C44228845T	CAMK2B	NM_001220.5(CAMK2B):c.1419G>A:p.Gly473=	coding	Benign
7	44228866	G	A	G44228866A	CAMK2B	NM_001220.5(CAMK2B):c.1398C>T:p.Ala466=	coding	Benign
7	44228940	T	C	T44228940C	CAMK2B	NM_001220.5(CAMK2B):c.1340-16A>G	noncoding	Benign
7	44229416	C	T	C44229416T	CAMK2B	NM_001220.5(CAMK2B):c.1311G>A:p.Pro437=	coding	Benign
7	44229417	G	A	G44229417A	CAMK2B	NM_001220.5(CAMK2B):c.1310C>T:p.Pro437Leu	coding	Benign
7	44229459	G	A	G44229459A	CAMK2B	NM_001220.5(CAMK2B):c.1268C>T:p.Ser423Leu	coding	Benign
7	44229467	C	T	C44229467T	CAMK2B	NM_001220.5(CAMK2B):c.1260G>A:p.Arg420=	coding	Benign
7	44229509	G	A	G44229509A	CAMK2B	NM_001220.5(CAMK2B):c.1226-8C>T	noncoding	Benign
7	44231066	C	T	C44231066T	CAMK2B	NM_001220.5(CAMK2B):c.1177-12G>A	noncoding	Benign
7	44232814	G	A	G44232814A	CAMK2B	NM_001220.5(CAMK2B):c.1176+8C>T	noncoding	Benign
7	44232831	G	A	G44232831A	CAMK2B	NM_001220.5(CAMK2B):c.1167C>T:p.Asp389=	coding	Benign
7	44234429	G	A	G44234429A	CAMK2B	NM_001220.5(CAMK2B):c.1092C>T:p.Ala364=	coding	Benign
7	44234461	G	A	G44234461A	CAMK2B	NM_001220.5(CAMK2B):c.1060C>T:p.Pro354Ser	coding	Benign
7	44234624	C	T	C44234624T	CAMK2B	NM_001220.5(CAMK2B):c.1059+15G>A	noncoding	Benign
7	44234625	G	A	G44234625A	CAMK2B	NM_001220.5(CAMK2B):c.1059+14C>T	noncoding	Benign
7	44239672	A	G	A44239672G	CAMK2B	NM_001220.5(CAMK2B):c.947-9T>C	noncoding	Benign
7	44241876	T	A	T44241876A	CAMK2B	NM_001220.5(CAMK2B):c.820-93A>T	noncoding	Benign
7	44242103	A	G	A44242103G	CAMK2B	NM_001220.5(CAMK2B):c.819+115T>C	noncoding	Benign
7	44242358	G	A	G44242358A	CAMK2B	NM_001220.5(CAMK2B):c.697-18C>T	noncoding	Benign
7	44242605	C	T	C44242605T	CAMK2B	NM_001220.5(CAMK2B):c.651G>A:p.Glu217=	coding	Benign
7	44242658	C	T	C44242658T	CAMK2B	NM_001220.5(CAMK2B):c.602-4G>A	noncoding	Benign
7	44242667	C	A	C44242667A	CAMK2B	NM_001220.5(CAMK2B):c.602-13G>T	noncoding	Benign
7	44243269	A	G	A44243269G	CAMK2B	NM_001220.5(CAMK2B):c.582T>C:p.Pro194=	coding	Benign
7	44243278	A	G	A44243278G	CAMK2B	NM_001220.5(CAMK2B):c.573T>C:p.Tyr191=	coding	Benign
7	44243329	G	A	G44243329A	CAMK2B	NM_001220.5(CAMK2B):c.522C>T:p.Phe174=	coding	Benign
7	44254539	C	T	C44254539T	CAMK2B	NM_001220.5(CAMK2B):c.341+3G>A	noncoding	Benign
7	44254604	G	A	G44254604A	CAMK2B	NM_001220.5(CAMK2B):c.279C>T:p.Val93=	coding	Benign
7	44284174	C	T	C44284174T	CAMK2B	NM_001220.5(CAMK2B):c.117G>A:p.Glu39=	coding	Benign
7	44325339	G	A	G44325339A	CAMK2B	NM_001220.5(CAMK2B):c.65+18C>T	noncoding	Benign
7	44325371	G	A	G44325371A	CAMK2B	NM_001220.5(CAMK2B):c.51C>T:p.Tyr17=	coding	Benign
7	44674572	G	A	G44674572A	OGDH	NM_002541.4(OGDH):c.935+15G>A	noncoding	Benign
7	44675201	A	G	A44675201G	OGDH	NM_002541.4(OGDH):c.959A>G:p.Asn320Ser	coding	Pathogenic
7	44675975	C	T	C44675975T	OGDH	NM_002541.4(OGDH):c.1032C>T:p.Ser344=	coding	Benign
7	44676168	C	A	C44676168A	OGDH	NM_002541.4(OGDH):c.1206+19C>A	coding	Benign
7	45000297	G	C	G45000297C	CCM2	NM_031443.4(CCM2):c.-37G>C	noncoding	Benign
7	45000464	G	T	G45000464T	CCM2	NM_031443.4(CCM2):c.30+101G>T	noncoding	Benign
7	45027418	A	G	A45027418G	CCM2	NM_031443.4(CCM2):c.31-10835A>G	noncoding	Benign
7	45038373	G	T	G45038373T	CCM2	NM_031443.4(CCM2):c.151G>T:p.Glu51Ter	coding	Pathogenic
7	45063688	T	G	T45063688G	CCM2	NM_031443.4(CCM2):c.205-230T>G	noncoding	Benign
7	45064172	C	T	C45064172T	CCM2	NM_031443.4(CCM2):c.288+171C>T	noncoding	Benign
7	45064472	C	T	C45064472T	CCM2	NM_031443.4(CCM2):c.298C>T:p.Gln100Ter	coding	Pathogenic
7	45064647	G	C	G45064647C	CCM2	NM_031443.4(CCM2):c.472+1G>C	coding	Pathogenic/Likely_pathogenic
7	45064773	C	T	C45064773T	CCM2	NM_031443.4(CCM2):c.472+127C>T	noncoding	Benign
7	45068269	A	G	A45068269G	CCM2	NM_031443.4(CCM2):c.473-174A>G	noncoding	Benign
7	45068441	A	G	A45068441G	CCM2	NM_031443.4(CCM2):c.473-2A>G	noncoding	Pathogenic
7	45069859	C	T	C45069859T	CCM2	NM_031443.4(CCM2):c.643C>T:p.Gln215Ter	coding	Pathogenic
7	45072471	T	G	T45072471G	CCM2	NM_031443.4(CCM2):c.746-255T>G	noncoding	Benign
7	45072800	C	G	C45072800G	CCM2	NM_031443.4(CCM2):c.803+17C>G	noncoding	Benign
7	45072872	C	A	C45072872A	CCM2	NM_031443.4(CCM2):c.803+89C>A	noncoding	Benign
7	45073113	A	G	A45073113G	CCM2	NM_031443.4(CCM2):c.803+330A>G	noncoding	Benign
7	45073174	T	C	T45073174C	CCM2	NM_031443.4(CCM2):c.804-286T>C	noncoding	Benign
7	45073303	T	C	T45073303C	CCM2	NM_031443.4(CCM2):c.804-157T>C	noncoding	Benign
7	45073582	G	A	G45073582A	CCM2	NM_031443.4(CCM2):c.915+11G>A	noncoding	Benign
7	45073690	C	T	C45073690T	CCM2	NM_031443.4(CCM2):c.915+119C>T	noncoding	Benign
7	45073744	C	T	C45073744T	CCM2	NM_031443.4(CCM2):c.915+173C>T	noncoding	Benign
7	45074420	C	T	C45074420T	CCM2	NM_031443.4(CCM2):c.1054+12C>T	noncoding	Benign/Likely_benign
7	45074490	C	T	C45074490T	CCM2	NM_031443.4(CCM2):c.1054+82C>T	noncoding	Benign
7	45074625	A	G	A45074625G	CCM2	NM_031443.4(CCM2):c.1054+217A>G	noncoding	Benign
7	45074627	C	T	C45074627T	CCM2	NM_031443.4(CCM2):c.1054+219C>T	noncoding	Benign
7	45076071	G	T	G45076071T	CCM2	NM_031443.4(CCM2):c.*14G>T	noncoding	Benign/Likely_benign
7	45076174	T	C	T45076174C	CCM2	NM_031443.4(CCM2):c.*117T>C	noncoding	Benign
7	45574777	C	G	C45574777G	ADCY1	NM_021116.4(ADCY1):c.234C>G:p.Ala78=	coding	Benign
7	45574791	C	T	C45574791T	ADCY1	NM_021116.4(ADCY1):c.248C>T:p.Ala83Val	coding	Benign/Likely_benign
7	45574801	C	G	C45574801G	ADCY1	NM_021116.4(ADCY1):c.258C>G:p.Pro86=	coding	Benign/Likely_benign
7	45592492	G	A	G45592492A	ADCY1	NM_021116.4(ADCY1):c.640-267G>A	noncoding	Benign
7	45593023	T	G	T45593023G	ADCY1	NM_021116.4(ADCY1):c.789+115T>G	noncoding	Benign
7	45610773	G	A	G45610773A	ADCY1	NM_021116.4(ADCY1):c.908+276G>A	noncoding	Benign
7	45610790	G	A	G45610790A	ADCY1	NM_021116.4(ADCY1):c.908+293G>A	noncoding	Benign
7	45610797	T	G	T45610797G	ADCY1	NM_021116.4(ADCY1):c.908+300T>G	noncoding	Benign
7	45610799	G	T	G45610799T	ADCY1	NM_021116.4(ADCY1):c.908+302G>T	noncoding	Benign
7	45622754	C	T	C45622754T	ADCY1	NM_021116.4(ADCY1):c.1020+11C>T	noncoding	Benign
7	45648474	A	G	A45648474G	ADCY1	NM_021116.4(ADCY1):c.1021-196A>G	noncoding	Benign
7	45648634	G	A	G45648634A	ADCY1	NM_021116.4(ADCY1):c.1021-36G>A	noncoding	Benign
7	45648976	A	G	A45648976G	ADCY1	NM_021116.4(ADCY1):c.1148+179A>G	noncoding	Benign
7	45657696	C	G	C45657696G	ADCY1	NM_021116.4(ADCY1):c.1149-31C>G	noncoding	Benign
7	45657698	T	C	T45657698C	ADCY1	NM_021116.4(ADCY1):c.1149-29T>C	noncoding	Benign
7	45659834	T	C	T45659834C	ADCY1	NM_021116.4(ADCY1):c.1308-208T>C	noncoding	Benign
7	45659835	G	T	G45659835T	ADCY1	NM_021116.4(ADCY1):c.1308-207G>T	noncoding	Benign
7	45660191	C	T	C45660191T	ADCY1	NM_021116.4(ADCY1):c.1449+8C>T	noncoding	Benign
7	45662014	G	T	G45662014T	ADCY1	NM_021116.4(ADCY1):c.1450-45G>T	noncoding	Benign
7	45664372	G	A	G45664372A	ADCY1	NM_021116.4(ADCY1):c.1605+2158G>A	coding	Benign
7	45678052	C	T	C45678052T	ADCY1	NM_021116.4(ADCY1):c.1789C>T:p.Arg597Trp	coding	Benign
7	45678112	T	C	T45678112C	ADCY1	NM_021116.4(ADCY1):c.1800+49T>C	noncoding	Benign
7	45678344	G	A	G45678344A	ADCY1	NM_021116.4(ADCY1):c.1898+81G>A	noncoding	Benign
7	45685097	T	C	T45685097C	ADCY1	NM_021116.4(ADCY1):c.2073+29T>C	noncoding	Benign
7	45685886	G	T	G45685886T	ADCY1	NM_021116.4(ADCY1):c.2074-76G>T	noncoding	Benign
7	45686853	G	C	G45686853C	ADCY1	NM_021116.4(ADCY1):c.2454+180G>C	noncoding	Benign
7	45686904	G	A	G45686904A	ADCY1	NM_021116.4(ADCY1):c.2454+231G>A	noncoding	Benign
7	45703529	T	G	T45703529G	ADCY1	NM_021116.4(ADCY1):c.2571+37T>G	noncoding	Benign
7	45703804	G	A	G45703804A	ADCY1	NM_021116.4(ADCY1):c.2718+58G>A	noncoding	Benign
7	45703939	C	G	C45703939G	ADCY1	NM_021116.4(ADCY1):c.2718+193C>G	noncoding	Benign
7	45704268	G	C	G45704268C	ADCY1	NM_021116.4(ADCY1):c.2719-250G>C	noncoding	Benign
7	45704456	C	T	C45704456T	ADCY1	NM_021116.4(ADCY1):c.2719-62C>T	noncoding	Benign
7	45704632	C	T	C45704632T	ADCY1	NM_021116.4(ADCY1):c.2817+16C>T	noncoding	Benign
7	45704833	C	T	C45704833T	ADCY1	NM_021116.4(ADCY1):c.2817+217C>T	noncoding	Benign
7	45708334	A	G	A45708334G	ADCY1	NM_021116.4(ADCY1):c.2818-16A>G	noncoding	Benign
7	45710969	G	A	G45710969A	ADCY1	NM_021116.4(ADCY1):c.3057+317G>A	noncoding	Benign
7	45713640	A	G	A45713640G	ADCY1	NM_021116.4(ADCY1):c.3058-53A>G	noncoding	Benign
7	45888732	C	T	C45888732T	IGFBP1	NM_000596.4(IGFBP1):c.80C>T:p.Pro27Leu	coding	Pathogenic
7	45888884	T	G	T45888884G	IGFBP1	NM_000596.4(IGFBP1):c.232T>G:p.Cys78Gly	coding	Pathogenic
7	47774931	G	A	G47774931A	PKD1L1	NM_138295.5(PKD1L1):c.*212C>T	noncoding	Benign
7	47796216	G	A	G47796216A	PKD1L1	NM_138295.5(PKD1L1):c.8194-66C>T	noncoding	Benign
7	47800486	C	T	C47800486T	PKD1L1	NM_138295.5(PKD1L1):c.8193+163G>A	noncoding	Benign
7	47800503	G	A	G47800503A	PKD1L1	NM_138295.5(PKD1L1):c.8193+146C>T	noncoding	Benign
7	47800789	C	T	C47800789T	PKD1L1	NM_138295.5(PKD1L1):c.8053G>A:p.Ala2685Thr	coding	Benign
7	47800837	G	A	G47800837A	PKD1L1	NM_138295.5(PKD1L1):c.8005C>T:p.Arg2669Ter	coding	Pathogenic
7	47800912	T	C	T47800912C	PKD1L1	NM_138295.5(PKD1L1):c.7963-33A>G	noncoding	Benign
7	47801091	C	A	C47801091A	PKD1L1	NM_138295.5(PKD1L1):c.7963-212G>T	noncoding	Benign
7	47808081	G	A	G47808081A	PKD1L1	NM_138295.5(PKD1L1):c.7827+166C>T	noncoding	Benign
7	47808153	G	A	G47808153A	PKD1L1	NM_138295.5(PKD1L1):c.7827+94C>T	noncoding	Benign
7	47812025	C	T	C47812025T	PKD1L1	NM_138295.5(PKD1L1):c.7373G>A:p.Arg2458Gln	coding	Benign
7	47812056	A	G	A47812056G	PKD1L1	NM_138295.5(PKD1L1):c.7347-5T>C	noncoding	Benign
7	47812314	G	A	G47812314A	PKD1L1	NM_138295.5(PKD1L1):c.7347-263C>T	noncoding	Benign
7	47813239	C	T	C47813239T	PKD1L1	NM_138295.5(PKD1L1):c.7228G>A:p.Glu2410Lys	coding	Benign
7	47813799	G	A	G47813799A	PKD1L1	NM_138295.5(PKD1L1):c.7173+132C>T	noncoding	Benign
7	47813815	A	G	A47813815G	PKD1L1	NM_138295.5(PKD1L1):c.7173+116T>C	noncoding	Benign
7	47813900	C	T	C47813900T	PKD1L1	NM_138295.5(PKD1L1):c.7173+31G>A	noncoding	Benign
7	47815069	C	G	C47815069G	PKD1L1	NM_138295.5(PKD1L1):c.7089+265G>C	noncoding	Benign
7	47815358	C	T	C47815358T	PKD1L1	NM_138295.5(PKD1L1):c.7065G>A:p.Pro2355=	coding	Benign
7	47815639	G	C	G47815639C	PKD1L1	NM_138295.5(PKD1L1):c.6966-182C>G	noncoding	Benign
7	47820912	C	T	C47820912T	PKD1L1	NM_138295.5(PKD1L1):c.6965+164G>A	noncoding	Benign
7	47827038	T	G	T47827038G	PKD1L1	NM_138295.5(PKD1L1):c.6854+312A>C	noncoding	Benign
7	47827752	A	G	A47827752G	PKD1L1	NM_138295.5(PKD1L1):c.6736-284T>C	noncoding	Benign
7	47829440	T	C	T47829440C	PKD1L1	NM_138295.5(PKD1L1):c.6720A>G:p.Ala2240=	coding	Benign
7	47830153	C	T	C47830153T	PKD1L1	NM_138295.5(PKD1L1):c.6474-29G>A	noncoding	Benign
7	47832885	C	T	C47832885T	PKD1L1	NM_138295.5(PKD1L1):c.6337+205G>A	noncoding	Benign
7	47832970	T	C	T47832970C	PKD1L1	NM_138295.5(PKD1L1):c.6337+120A>G	noncoding	Benign
7	47833003	T	C	T47833003C	PKD1L1	NM_138295.5(PKD1L1):c.6337+87A>G	noncoding	Benign
7	47833247	A	G	A47833247G	PKD1L1	NM_138295.5(PKD1L1):c.6180T>C:p.Pro2060=	coding	Benign
7	47834099	T	C	T47834099C	PKD1L1	NM_138295.5(PKD1L1):c.6174+240A>G	noncoding	Benign
7	47834213	G	A	G47834213A	PKD1L1	NM_138295.5(PKD1L1):c.6174+126C>T	noncoding	Benign
7	47834464	G	A	G47834464A	PKD1L1	NM_138295.5(PKD1L1):c.6128-79C>T	noncoding	Benign
7	47834467	G	A	G47834467A	PKD1L1	NM_138295.5(PKD1L1):c.6128-82C>T	noncoding	Benign
7	47835032	G	A	G47835032A	PKD1L1	NM_138295.5(PKD1L1):c.6062C>T:p.Pro2021Leu	coding	Benign
7	47836969	G	A	G47836969A	PKD1L1	NM_138295.5(PKD1L1):c.5895C>T:p.Cys1965=	coding	Benign
7	47837189	A	G	A47837189G	PKD1L1	NM_138295.5(PKD1L1):c.5770-95T>C	noncoding	Benign
7	47839309	G	T	G47839309T	PKD1L1	NM_138295.5(PKD1L1):c.5769+137C>A	noncoding	Benign
7	47839395	C	T	C47839395T	PKD1L1	NM_138295.5(PKD1L1):c.5769+51G>A	noncoding	Benign
7	47839451	G	A	G47839451A	PKD1L1	NM_138295.5(PKD1L1):c.5764C>T:p.Arg1922Trp	coding	Benign
7	47840805	C	T	C47840805T	PKD1L1	NM_138295.5(PKD1L1):c.5446-238G>A	noncoding	Benign
7	47842708	G	A	G47842708A	PKD1L1	NM_138295.5(PKD1L1):c.5445+254C>T	noncoding	Benign
7	47844878	T	C	T47844878C	PKD1L1	NM_138295.5(PKD1L1):c.5237+117A>G	noncoding	Benign
7	47844941	G	A	G47844941A	PKD1L1	NM_138295.5(PKD1L1):c.5237+54C>T	noncoding	Benign
7	47844941	G	T	G47844941T	PKD1L1	NM_138295.5(PKD1L1):c.5237+54C>A	noncoding	Benign
7	47844957	A	G	A47844957G	PKD1L1	NM_138295.5(PKD1L1):c.5237+38T>C	noncoding	Benign
7	47845231	C	A	C47845231A	PKD1L1	NM_138295.5(PKD1L1):c.5154-153G>T	noncoding	Benign
7	47847109	G	A	G47847109A	PKD1L1	NM_138295.5(PKD1L1):c.4961-38C>T	noncoding	Benign
7	47852845	A	C	A47852845C	PKD1L1	NM_138295.5(PKD1L1):c.4960+282T>G	noncoding	Benign
7	47853377	T	A	T47853377A	PKD1L1	NM_138295.5(PKD1L1):c.4860-150A>T	noncoding	Benign
7	47854728	A	G	A47854728G	PKD1L1	NM_138295.5(PKD1L1):c.4859+154T>C	noncoding	Benign
7	47854872	A	G	A47854872G	PKD1L1	NM_138295.5(PKD1L1):c.4859+10T>C	noncoding	Benign
7	47855357	T	A	T47855357A	PKD1L1	NM_138295.5(PKD1L1):c.4591-92A>T	noncoding	Benign
7	47857286	G	A	G47857286A	PKD1L1	NM_138295.5(PKD1L1):c.4590+319C>T	noncoding	Benign
7	47858963	C	T	C47858963T	PKD1L1	NM_138295.5(PKD1L1):c.4150-78G>A	noncoding	Benign
7	47858999	T	C	T47858999C	PKD1L1	NM_138295.5(PKD1L1):c.4150-114A>G	noncoding	Benign
7	47859136	G	A	G47859136A	PKD1L1	NM_138295.5(PKD1L1):c.4150-251C>T	noncoding	Benign
7	47859153	C	T	C47859153T	PKD1L1	NM_138295.5(PKD1L1):c.4150-268G>A	noncoding	Benign
7	47865139	G	A	G47865139A	PKD1L1	NM_138295.5(PKD1L1):c.4149+77C>T	noncoding	Benign
7	47865446	T	C	T47865446C	PKD1L1	NM_138295.5(PKD1L1):c.4093-174A>G	noncoding	Benign
7	47865523	G	A	G47865523A	PKD1L1	NM_138295.5(PKD1L1):c.4093-251C>T	noncoding	Benign
7	47865526	G	C	G47865526C	PKD1L1	NM_138295.5(PKD1L1):c.4093-254C>G	noncoding	Benign
7	47866251	A	C	A47866251C	PKD1L1	NM_138295.5(PKD1L1):c.4092+168T>G	noncoding	Benign
7	47866737	A	G	A47866737G	PKD1L1	NM_138295.5(PKD1L1):c.3897-123T>C	noncoding	Benign
7	47866769	C	T	C47866769T	PKD1L1	NM_138295.5(PKD1L1):c.3897-155G>A	noncoding	Benign
7	47873814	C	T	C47873814T	PKD1L1	NM_138295.5(PKD1L1):c.3896+85G>A	noncoding	Benign
7	47873861	T	C	T47873861C	PKD1L1	NM_138295.5(PKD1L1):c.3896+38A>G	noncoding	Benign
7	47873962	G	T	G47873962T	PKD1L1	NM_138295.5(PKD1L1):c.3833C>A:p.Pro1278Gln	coding	Benign
7	47873981	T	C	T47873981C	PKD1L1	NM_138295.5(PKD1L1):c.3814A>G:p.Lys1272Glu	coding	Benign
7	47873982	G	A	G47873982A	PKD1L1	NM_138295.5(PKD1L1):c.3813C>T:p.Gly1271=	coding	Benign
7	47874017	G	A	G47874017A	PKD1L1	NM_138295.5(PKD1L1):c.3785-7C>T	noncoding	Benign
7	47874078	C	T	C47874078T	PKD1L1	NM_138295.5(PKD1L1):c.3785-68G>A	noncoding	Benign
7	47874139	A	G	A47874139G	PKD1L1	NM_138295.5(PKD1L1):c.3785-129T>C	noncoding	Benign
7	47874246	T	C	T47874246C	PKD1L1	NM_138295.5(PKD1L1):c.3785-236A>G	noncoding	Benign
7	47875800	G	A	G47875800A	PKD1L1	NM_138295.5(PKD1L1):c.3784+297C>T	noncoding	Benign
7	47875832	T	A	T47875832A	PKD1L1	NM_138295.5(PKD1L1):c.3784+265A>T	noncoding	Benign
7	47875945	T	G	T47875945G	PKD1L1	NM_138295.5(PKD1L1):c.3784+152A>C	noncoding	Benign
7	47876053	G	C	G47876053C	PKD1L1	NM_138295.5(PKD1L1):c.3784+44C>G	noncoding	Benign
7	47876079	A	G	A47876079G	PKD1L1	NM_138295.5(PKD1L1):c.3784+18T>C	noncoding	Benign
7	47876319	A	G	A47876319G	PKD1L1	NM_138295.5(PKD1L1):c.3664-102T>C	noncoding	Benign
7	47876551	A	C	A47876551C	PKD1L1	NM_138295.5(PKD1L1):c.3664-334T>G	noncoding	Benign
7	47877172	C	T	C47877172T	PKD1L1	NM_138295.5(PKD1L1):c.3663+317G>A	noncoding	Benign
7	47877197	G	A	G47877197A	PKD1L1	NM_138295.5(PKD1L1):c.3663+292C>T	noncoding	Benign
7	47877352	A	T	A47877352T	PKD1L1	NM_138295.5(PKD1L1):c.3663+137T>A	noncoding	Benign
7	47877362	G	T	G47877362T	PKD1L1	NM_138295.5(PKD1L1):c.3663+127C>A	noncoding	Benign
7	47877397	T	C	T47877397C	PKD1L1	NM_138295.5(PKD1L1):c.3663+92A>G	noncoding	Benign
7	47877489	C	T	C47877489T	PKD1L1	NM_138295.5(PKD1L1):c.3663G>A:p.Pro1221=	coding	Benign
7	47877551	G	A	G47877551A	PKD1L1	NM_138295.5(PKD1L1):c.3601C>T:p.Gln1201Ter	coding	Pathogenic
7	47877854	C	T	C47877854T	PKD1L1	NM_138295.5(PKD1L1):c.3521-223G>A	noncoding	Benign
7	47877897	T	C	T47877897C	PKD1L1	NM_138295.5(PKD1L1):c.3521-266A>G	noncoding	Benign
7	47880484	G	A	G47880484A	PKD1L1	NM_138295.5(PKD1L1):c.3520+244C>T	noncoding	Benign
7	47880571	T	C	T47880571C	PKD1L1	NM_138295.5(PKD1L1):c.3520+157A>G	noncoding	Benign
7	47880573	T	C	T47880573C	PKD1L1	NM_138295.5(PKD1L1):c.3520+155A>G	noncoding	Benign
7	47880580	C	A	C47880580A	PKD1L1	NM_138295.5(PKD1L1):c.3520+148G>T	noncoding	Benign
7	47880627	G	C	G47880627C	PKD1L1	NM_138295.5(PKD1L1):c.3520+101C>G	noncoding	Benign
7	47880700	G	C	G47880700C	PKD1L1	NM_138295.5(PKD1L1):c.3520+28C>G	noncoding	Benign
7	47880747	G	A	G47880747A	PKD1L1	NM_138295.5(PKD1L1):c.3501C>T:p.Tyr1167=	coding	Benign
7	47880852	A	G	A47880852G	PKD1L1	NM_138295.5(PKD1L1):c.3443-47T>C	noncoding	Benign
7	47880884	A	G	A47880884G	PKD1L1	NM_138295.5(PKD1L1):c.3443-79T>C	noncoding	Benign
7	47880885	G	T	G47880885T	PKD1L1	NM_138295.5(PKD1L1):c.3443-80C>A	noncoding	Benign
7	47880901	A	G	A47880901G	PKD1L1	NM_138295.5(PKD1L1):c.3443-96T>C	noncoding	Benign
7	47880985	G	C	G47880985C	PKD1L1	NM_138295.5(PKD1L1):c.3443-180C>G	noncoding	Benign
7	47881684	G	C	G47881684C	PKD1L1	NM_138295.5(PKD1L1):c.3442+225C>G	noncoding	Benign
7	47882084	A	T	A47882084T	PKD1L1	NM_138295.5(PKD1L1):c.3267T>A:p.Ala1089=	coding	Benign
7	47882200	C	A	C47882200A	PKD1L1	NM_138295.5(PKD1L1):c.3266-115G>T	noncoding	Benign
7	47882226	C	T	C47882226T	PKD1L1	NM_138295.5(PKD1L1):c.3266-141G>A	noncoding	Benign
7	47882241	C	G	C47882241G	PKD1L1	NM_138295.5(PKD1L1):c.3266-156G>C	noncoding	Benign
7	47884856	G	A	G47884856A	PKD1L1	NM_138295.5(PKD1L1):c.3206-199C>T	noncoding	Benign
7	47885733	C	G	C47885733G	PKD1L1	NM_138295.5(PKD1L1):c.3158G>C:p.Arg1053Pro	coding	Benign
7	47887805	G	C	G47887805C	PKD1L1	NM_138295.5(PKD1L1):c.2836+185C>G	noncoding	Benign
7	47888146	C	T	C47888146T	PKD1L1	NM_138295.5(PKD1L1):c.2680G>A:p.Val894Ile	coding	Benign
7	47890937	C	A	C47890937A	PKD1L1	NM_138295.5(PKD1L1):c.2454-174G>T	noncoding	Benign
7	47893635	C	T	C47893635T	PKD1L1	NM_138295.5(PKD1L1):c.2453+243G>A	noncoding	Benign
7	47893850	C	T	C47893850T	PKD1L1	NM_138295.5(PKD1L1):c.2453+28G>A	noncoding	Benign
7	47894254	C	G	C47894254G	PKD1L1	NM_138295.5(PKD1L1):c.2272-195G>C	noncoding	Benign
7	47897769	C	T	C47897769T	PKD1L1	NM_138295.5(PKD1L1):c.2271+219G>A	noncoding	Benign
7	47897890	C	A	C47897890A	PKD1L1	NM_138295.5(PKD1L1):c.2271+98G>T	noncoding	Benign
7	47898400	A	C	A47898400C	PKD1L1	NM_138295.5(PKD1L1):c.2065-206T>G	noncoding	Benign
7	47902117	C	T	C47902117T	PKD1L1	NM_138295.5(PKD1L1):c.2064+262G>A	noncoding	Benign
7	47902309	A	C	A47902309C	PKD1L1	NM_138295.5(PKD1L1):c.2064+70T>G	noncoding	Benign
7	47902319	C	T	C47902319T	PKD1L1	NM_138295.5(PKD1L1):c.2064+60G>A	noncoding	Benign
7	47904272	G	A	G47904272A	PKD1L1	NM_138295.5(PKD1L1):c.1931+106C>T	noncoding	Benign
7	47904356	C	T	C47904356T	PKD1L1	NM_138295.5(PKD1L1):c.1931+22G>A	noncoding	Benign
7	47906213	C	T	C47906213T	PKD1L1	NM_138295.5(PKD1L1):c.1403-251G>A	noncoding	Benign
7	47907829	A	T	A47907829T	PKD1L1	NM_138295.5(PKD1L1):c.1402+248T>A	noncoding	Benign
7	47908266	T	C	T47908266C	PKD1L1	NM_138295.5(PKD1L1):c.1229-16A>G	noncoding	Benign
7	47929330	C	A	C47929330A	PKD1L1	NM_138295.5(PKD1L1):c.934G>T:p.Val312Phe	coding	Benign
7	47930897	T	C	T47930897C	PKD1L1	NM_138295.5(PKD1L1):c.737+207A>G	noncoding	Benign
7	47931729	A	C	A47931729C	PKD1L1	NM_138295.5(PKD1L1):c.519+207T>G	noncoding	Benign
7	47931751	T	C	T47931751C	PKD1L1	NM_138295.5(PKD1L1):c.519+185A>G	noncoding	Benign
7	47931978	A	G	A47931978G	PKD1L1	NM_138295.5(PKD1L1):c.477T>C:p.Cys159=	coding	Benign
7	47932029	G	A	G47932029A	PKD1L1	NM_138295.5(PKD1L1):c.426C>T:p.Ile142=	coding	Benign
7	47932251	G	A	G47932251A	PKD1L1	NM_138295.5(PKD1L1):c.399-195C>T	noncoding	Benign
7	47932269	C	T	C47932269T	PKD1L1	NM_138295.5(PKD1L1):c.399-213G>A	noncoding	Benign
7	47932390	T	C	T47932390C	PKD1L1	NM_138295.5(PKD1L1):c.399-334A>G	noncoding	Benign
7	47936690	A	G	A47936690G	PKD1L1	NM_138295.5(PKD1L1):c.398+156T>C	noncoding	Benign
7	47937085	G	C	G47937085C	PKD1L1	NM_138295.5(PKD1L1):c.286-127C>G	noncoding	Benign
7	47937234	G	A	G47937234A	PKD1L1	NM_138295.5(PKD1L1):c.286-276C>T	noncoding	Benign
7	47939955	G	A	G47939955A	PKD1L1	NM_138295.5(PKD1L1):c.285+238C>T	noncoding	Benign
7	47940119	A	C	A47940119C	PKD1L1	NM_138295.5(PKD1L1):c.285+74T>G	noncoding	Benign
7	47940325	A	G	A47940325G	PKD1L1	NM_138295.5(PKD1L1):c.161-8T>C	noncoding	Benign
7	47943504	G	A	G47943504A	PKD1L1	NM_138295.5(PKD1L1):c.52C>T:p.Gln18Ter	coding	Pathogenic
7	48273077	G	A	G48273077A	ABCA13	NM_152701.5(ABCA13):c.3411G>A:p.Val1137=	coding	Benign
7	48274682	G	A	G48274682A	ABCA13	NM_152701.5(ABCA13):c.5016G>A:p.Lys1672=	coding	Benign
7	48275201	G	T	G48275201T	ABCA13	NM_152701.5(ABCA13):c.5535G>T:p.Gly1845=	coding	Benign
7	48276199	C	A	C48276199A	ABCA13	NM_152701.5(ABCA13):c.6533C>A:p.Ala2178Glu	coding	Benign
7	49983372	G	A	G49983372A	ZPBP	NM_007009.3(ZPBP):c.931C>T:p.Gln311Ter	coding	Pathogenic
7	50304536	G	C	G50304536C	IKZF1	NM_001291839.2(IKZF1):c.-15+422G>C	noncoding	Benign
7	50327696	C	A	C50327696A	IKZF1	NM_006060.6(IKZF1):c.99C>A:p.Ile33=	coding	Benign
7	50368079	T	G	T50368079G	IKZF1	NM_006060.6(IKZF1):c.161-8454T>G	coding	Benign
7	50368335	A	G	A50368335G	IKZF1	NM_006060.6(IKZF1):c.161-8198A>G	coding	Benign
7	50376327	C	T	C50376327T	IKZF1	NM_006060.6(IKZF1):c.161-206C>T	noncoding	Benign
7	50376342	G	A	G50376342A	IKZF1	NM_006060.6(IKZF1):c.161-191G>A	noncoding	Benign
7	50376619	C	T	C50376619T	IKZF1	NM_006060.6(IKZF1):c.247C>T:p.Arg83Ter	coding	Pathogenic
7	50382722	T	C	T50382722C	IKZF1	NM_006060.6(IKZF1):c.589+15T>C	noncoding	Benign
7	50382748	C	T	C50382748T	IKZF1	NM_006060.6(IKZF1):c.589+41C>T	noncoding	Benign
7	50382779	C	G	C50382779G	IKZF1	NM_006060.6(IKZF1):c.589+72C>G	noncoding	Benign
7	50387107	A	G	A50387107G	IKZF1	NM_006060.6(IKZF1):c.590-238A>G	noncoding	Benign
7	50387282	A	T	A50387282T	IKZF1	NM_006060.6(IKZF1):c.590-63A>T	noncoding	Benign
7	50387648	C	T	C50387648T	IKZF1	NM_006060.6(IKZF1):c.715+178C>T	noncoding	Benign
7	50391622	G	A	G50391622A	IKZF1	NM_006060.6(IKZF1):c.716-107G>A	noncoding	Benign
7	50391707	G	A	G50391707A	IKZF1	NM_006060.6(IKZF1):c.716-22G>A	noncoding	Benign
7	50400069	C	A	C50400069A	IKZF1	NM_006060.6(IKZF1):c.1002C>A:p.Pro334=	coding	Benign
7	50400243	C	T	C50400243T	IKZF1	NM_006060.6(IKZF1):c.1176C>T:p.Asn392=	coding	Benign
7	50400334	C	T	C50400334T	IKZF1	NM_006060.6(IKZF1):c.1267C>T:p.Arg423Cys	coding	Pathogenic
7	50400636	C	T	C50400636T	IKZF1	NM_006060.6(IKZF1):c.*9C>T	noncoding	Benign
7	50463064	G	A	G50463064A	DDC	NM_001082971.2(DDC):c.*18+149C>T	noncoding	Benign
7	50463171	G	A	G50463171A	DDC	NM_001082971.2(DDC):c.*18+42C>T	noncoding	Benign
7	50467056	T	C	T50467056C	DDC	NM_001082971.2(DDC):c.1242+158A>G	noncoding	Benign
7	50467222	G	A	G50467222A	DDC	NM_001082971.2(DDC):c.1234C>T:p.Arg412Trp	coding	Pathogenic
7	50470285	A	C	A50470285C	DDC	NM_001082971.2(DDC):c.1042-114T>G	noncoding	Benign
7	50470354	G	A	G50470354A	DDC	NM_001082971.2(DDC):c.1042-183C>T	noncoding	Benign
7	50476365	A	C	A50476365C	DDC	NM_001082971.2(DDC):c.1041+259T>G	noncoding	Benign
7	50476440	A	G	A50476440G	DDC	NM_001082971.2(DDC):c.1041+184T>C	noncoding	Benign
7	50479813	T	C	T50479813C	DDC	NM_001082971.2(DDC):c.995A>G:p.Tyr332Cys	coding	Pathogenic
7	50479886	A	C	A50479886C	DDC	NM_001082971.2(DDC):c.945-23T>G	noncoding	Benign
7	50480167	C	T	C50480167T	DDC	NM_001082971.2(DDC):c.945-304G>A	noncoding	Benign
7	50492696	G	C	G50492696C	DDC	NM_001082971.2(DDC):c.944+2654C>G	coding	Benign
7	50492779	A	C	A50492779C	DDC	NM_001082971.2(DDC):c.944+2571T>G	coding	Benign
7	50493134	G	T	G50493134T	DDC	NM_001082971.2(DDC):c.944+2216C>A	noncoding	Benign
7	50493227	C	A	C50493227A	DDC	NM_001082971.2(DDC):c.944+2123G>T	noncoding	Benign
7	50495123	C	A	C50495123A	DDC	NM_001082971.2(DDC):c.944+227G>T	noncoding	Benign
7	50498973	G	A	G50498973A	DDC	NM_001082971.2(DDC):c.876+175C>T	noncoding	Benign
7	50499064	C	T	C50499064T	DDC	NM_001082971.2(DDC):c.876+84G>A	noncoding	Benign
7	50503867	G	A	G50503867A	DDC	NM_001082971.2(DDC):c.781+126C>T	noncoding	Benign
7	50504081	G	A	G50504081A	DDC	NM_001082971.2(DDC):c.715-22C>T	noncoding	Benign
7	50504240	A	C	A50504240C	DDC	NM_001082971.2(DDC):c.715-181T>G	noncoding	Benign
7	50504298	C	T	C50504298T	DDC	NM_001082971.2(DDC):c.715-239G>A	noncoding	Benign
7	50528925	G	A	G50528925A	DDC	NM_001082971.2(DDC):c.570+283C>T	noncoding	Benign
7	50528932	G	A	G50528932A	DDC	NM_001082971.2(DDC):c.570+276C>T	noncoding	Benign
7	50529166	C	T	C50529166T	DDC	NM_001082971.2(DDC):c.570+42G>A	noncoding	Benign
7	50529210	G	A	G50529210A	DDC	NM_001082971.2(DDC):c.568C>T:p.Gln190Ter	coding	Pathogenic
7	50529228	C	G	C50529228G	DDC	NM_001082971.2(DDC):c.550G>C:p.Val184Leu	coding	Benign/Likely_benign
7	50529252	G	A	G50529252A	DDC	NM_001082971.2(DDC):c.526C>T:p.Gln176Ter	coding	Pathogenic
7	50529354	A	G	A50529354G	DDC	NM_001082971.2(DDC):c.436-12T>C	noncoding	Benign/Likely_benign
7	50529603	G	A	G50529603A	DDC	NM_001082971.2(DDC):c.436-261C>T	noncoding	Benign
7	50537600	C	T	C50537600T	DDC	NM_001082971.2(DDC):c.435+260G>A	noncoding	Benign
7	50539690	G	C	G50539690C	DDC	NM_001082971.2(DDC):c.315+225C>G	noncoding	Benign
7	50544004	G	A	G50544004A	DDC	NM_001082971.2(DDC):c.82C>T:p.Gln28Ter	coding	Pathogenic
7	50544037	T	C	T50544037C	DDC	NM_001082971.2(DDC):c.49A>G:p.Met17Val	coding	Benign
7	50544067	G	A	G50544067A	DDC	NM_001082971.2(DDC):c.19C>T:p.Arg7Ter	coding	Pathogenic
7	50544190	G	C	G50544190C	DDC	NM_001082971.2(DDC):c.-28-77C>G	noncoding	Benign
7	50544387	G	A	G50544387A	DDC	NM_001082971.2(DDC):c.-28-274C>T	noncoding	Benign
7	51029133	C	G	C51029133G	COBL	NM_015198.5(COBL):c.1963G>C:p.Ala655Pro	coding	Benign
7	55019062	G	T	G55019062T	EGFR	NM_005228.5(EGFR):c.-216G>T	noncoding	Benign
7	55019087	A	C	A55019087C	EGFR	NM_005228.5(EGFR):c.-191A>C	noncoding	Benign
7	55019446	G	T	G55019446T	EGFR	NM_005228.5(EGFR):c.88+81G>T	noncoding	Benign
7	55124563	A	C	A55124563C	EGFR	NM_005228.5(EGFR):c.89-17723A>C	noncoding	Benign
7	55142019	T	C	T55142019C	EGFR	NM_005228.5(EGFR):c.89-267T>C	noncoding	Benign
7	55142351	C	T	C55142351T	EGFR	NM_005228.5(EGFR):c.154C>T:p.Gln52Ter	coding	Pathogenic
7	55142419	T	C	T55142419C	EGFR	NM_005228.5(EGFR):c.222T>C:p.Tyr74=	coding	Benign
7	55142495	G	A	G55142495A	EGFR	NM_005228.5(EGFR):c.240+58G>A	noncoding	Benign
7	55143040	G	C	G55143040C	EGFR	NM_005228.5(EGFR):c.241-265G>C	noncoding	Benign
7	55143297	C	G	C55143297G	EGFR	NM_005228.5(EGFR):c.241-8C>G	noncoding	Benign/Likely_benign
7	55143623	G	A	G55143623A	EGFR	NM_005228.5(EGFR):c.424+135G>A	noncoding	Benign
7	55146694	C	T	C55146694T	EGFR	NM_005228.5(EGFR):c.513C>T:p.Asp171=	coding	Benign/Likely_benign
7	55146842	A	T	A55146842T	EGFR	NM_005228.5(EGFR):c.559+102A>T	noncoding	Benign
7	55146954	G	T	G55146954T	EGFR	NM_005228.5(EGFR):c.559+214G>T	noncoding	Benign
7	55151056	G	A	G55151056A	EGFR	NM_005228.5(EGFR):c.560-238G>A	noncoding	Benign
7	55151210	T	C	T55151210C	EGFR	NM_005228.5(EGFR):c.560-84T>C	noncoding	Benign
7	55151466	C	T	C55151466T	EGFR	NM_005228.5(EGFR):c.628+104C>T	noncoding	Benign
7	55151614	C	G	C55151614G	EGFR	NM_005228.5(EGFR):c.628+252C>G	noncoding	Benign
7	55152484	A	G	A55152484G	EGFR	NM_005228.5(EGFR):c.629-62A>G	noncoding	Benign
7	55152550	C	T	C55152550T	EGFR	NM_005228.5(EGFR):c.633C>T:p.Thr211=	coding	Benign/Likely_benign
7	55153754	C	G	C55153754G	EGFR	NM_005228.5(EGFR):c.748-257C>G	noncoding	Benign
7	55153776	C	T	C55153776T	EGFR	NM_005228.5(EGFR):c.748-235C>T	noncoding	Benign
7	55153962	G	A	G55153962A	EGFR	NM_005228.5(EGFR):c.748-49G>A	noncoding	Benign
7	55154026	C	T	C55154026T	EGFR	NM_005228.5(EGFR):c.763C>T:p.Arg255Ter	coding	Pathogenic
7	55154107	G	A	G55154107A	EGFR	NM_005228.5(EGFR):c.844G>A:p.Glu282Lys	coding	Benign/Likely_benign
7	55154140	A	T	A55154140T	EGFR	NM_005228.5(EGFR):c.877A>T:p.Lys293Ter	coding	Pathogenic
7	55155852	C	T	C55155852T	EGFR	NM_005228.5(EGFR):c.912C>T:p.His304=	coding	Benign
7	55155855	C	A	C55155855A	EGFR	NM_005228.5(EGFR):c.915C>A:p.Gly305=	coding	Benign
7	55156097	T	C	T55156097C	EGFR	NM_005228.5(EGFR):c.1006+151T>C	noncoding	Benign
7	55156555	T	C	T55156555C	EGFR	NM_005228.5(EGFR):c.1029T>C:p.Gly343=	coding	Benign
7	55156573	C	G	C55156573G	EGFR	NM_005228.5(EGFR):c.1047C>G:p.Leu349=	coding	Benign
7	55157447	G	C	G55157447C	EGFR	NM_005228.5(EGFR):c.1208-216G>C	noncoding	Benign
7	55157477	G	C	G55157477C	EGFR	NM_005228.5(EGFR):c.1208-186G>C	noncoding	Benign
7	55160278	C	T	C55160278T	EGFR	NM_005228.5(EGFR):c.1438C>T:p.Leu480=	coding	Benign
7	55160360	A	T	A55160360T	EGFR	NM_005228.5(EGFR):c.1498+22A>T	noncoding	Benign
7	55160480	C	T	C55160480T	EGFR	NM_005228.5(EGFR):c.1498+142C>T	noncoding	Benign
7	55161322	A	G	A55161322G	EGFR	NM_005228.5(EGFR):c.1499-177A>G	noncoding	Benign
7	55161484	A	G	A55161484G	EGFR	NM_005228.5(EGFR):c.1499-15A>G	noncoding	Benign
7	55161537	G	T	G55161537T	EGFR	NM_005228.5(EGFR):c.1537G>T:p.Glu513Ter	coding	Pathogenic
7	55161591	C	T	C55161591T	EGFR	NM_005228.5(EGFR):c.1591C>T:p.Arg531Ter	coding	Pathogenic
7	55161605	C	A	C55161605A	EGFR	NM_005228.5(EGFR):c.1605C>A:p.Cys535Ter	coding	Pathogenic
7	55161850	T	C	T55161850C	EGFR	NM_005228.5(EGFR):c.1631+219T>C	noncoding	Benign
7	55165033	G	T	G55165033T	EGFR	NM_005228.5(EGFR):c.1723-247G>T	noncoding	Benign
7	55165306	C	T	C55165306T	EGFR	NM_005228.5(EGFR):c.1749C>T:p.Ala583=	coding	Benign/Likely_benign
7	55165492	C	T	C55165492T	EGFR	NM_005228.5(EGFR):c.1880+55C>T	noncoding	Benign
7	55170394	C	T	C55170394T	EGFR	NM_005228.5(EGFR):c.1881-781C>T	coding	Benign
7	55170534	C	T	C55170534T	EGFR	NM_005228.5(EGFR):c.1881-641C>T	coding	Benign
7	55170575	G	A	G55170575A	EGFR	NM_005228.5(EGFR):c.1881-600G>A	coding	Benign
7	55170687	A	G	A55170687G	EGFR	NM_005228.5(EGFR):c.1881-488A>G	coding	Benign
7	55170771	T	G	T55170771G	EGFR	NM_005228.5(EGFR):c.1881-404T>G	coding	Benign
7	55171471	G	A	G55171471A	EGFR	NM_005228.5(EGFR):c.1919+258G>A	noncoding	Benign
7	55172735	A	G	A55172735G	EGFR	NM_005228.5(EGFR):c.1920-248A>G	noncoding	Benign
7	55172768	G	C	G55172768C	EGFR	NM_005228.5(EGFR):c.1920-215G>C	noncoding	Benign
7	55173141	G	A	G55173141A	EGFR	NM_005228.5(EGFR):c.2061+17G>A	noncoding	Benign
7	55173220	G	A	G55173220A	EGFR	NM_005228.5(EGFR):c.2061+96G>A	noncoding	Benign
7	55173314	A	G	A55173314G	EGFR	NM_005228.5(EGFR):c.2061+190A>G	noncoding	Benign
7	55173415	G	C	G55173415C	EGFR	NM_005228.5(EGFR):c.2061+291G>C	noncoding	Benign
7	55173817	C	A	C55173817A	EGFR	NM_005228.5(EGFR):c.2062-104C>A	noncoding	Benign
7	55174034	G	A	G55174034A	EGFR	NM_005228.5(EGFR):c.2175G>A:p.Thr725=	coding	Benign
7	55174062	G	A	G55174062A	EGFR	NM_005228.5(EGFR):c.2184+19G>A	noncoding	Benign
7	55174143	C	T	C55174143T	EGFR	NM_005228.5(EGFR):c.2184+100C>T	noncoding	Benign
7	55174340	G	A	G55174340A	EGFR	NM_005228.5(EGFR):c.2184+297G>A	noncoding	Benign
7	55174470	G	A	G55174470A	EGFR	NM_005228.5(EGFR):c.2185-252G>A	noncoding	Benign
7	55174916	A	G	A55174916G	EGFR	NM_005228.5(EGFR):c.2283+96A>G	noncoding	Benign
7	55174945	T	C	T55174945C	EGFR	NM_005228.5(EGFR):c.2283+125T>C	noncoding	Benign
7	55175089	T	C	T55175089C	EGFR	NM_005228.5(EGFR):c.2283+269T>C	noncoding	Benign
7	55181094	T	C	T55181094C	EGFR	NM_005228.5(EGFR):c.2284-199T>C	coding	Benign
7	55181233	T	C	T55181233C	EGFR	NM_005228.5(EGFR):c.2284-60T>C	coding	Benign
7	55181436	T	C	T55181436C	EGFR	NM_005228.5(EGFR):c.2427T>C:p.Ile809=	coding	Benign
7	55181466	G	A	G55181466A	EGFR	NM_005228.5(EGFR):c.2457G>A:p.Val819=	coding	Benign
7	55181497	T	C	T55181497C	EGFR	NM_005228.5(EGFR):c.2469+19T>C	coding	Benign
7	55191604	A	G	A55191604G	EGFR	NM_005228.5(EGFR):c.2470-115A>G	noncoding	Benign
7	55191794	C	T	C55191794T	EGFR	NM_005228.5(EGFR):c.2545C>T:p.Gln849Ter	coding	Pathogenic
7	55192070	A	G	A55192070G	EGFR	NM_005228.5(EGFR):c.2625+196A>G	noncoding	Benign
7	55192593	G	A	G55192593A	EGFR	NM_005228.5(EGFR):c.2626-173G>A	noncoding	Benign
7	55192648	C	G	C55192648G	EGFR	NM_005228.5(EGFR):c.2626-118C>G	noncoding	Benign
7	55192665	G	C	G55192665C	EGFR	NM_005228.5(EGFR):c.2626-101G>C	noncoding	Benign
7	55192747	C	T	C55192747T	EGFR	NM_005228.5(EGFR):c.2626-19C>T	noncoding	Benign
7	55192790	G	T	G55192790T	EGFR	NM_005228.5(EGFR):c.2650G>T:p.Glu884Ter	coding	Pathogenic
7	55198534	C	T	C55198534T	EGFR	NM_005228.5(EGFR):c.2702-183C>T	noncoding	Benign
7	55198724	T	C	T55198724C	EGFR	NM_005228.5(EGFR):c.2709T>C:p.Thr903=	coding	Benign
7	55198725	G	A	G55198725A	EGFR	NM_005228.5(EGFR):c.2710G>A:p.Val904Ile	coding	Benign/Likely_benign
7	55198730	G	A	G55198730A	EGFR	NM_005228.5(EGFR):c.2715G>A:p.Trp905Ter	coding	Pathogenic
7	55198760	T	A	T55198760A	EGFR	NM_005228.5(EGFR):c.2745T>A:p.Tyr915Ter	coding	Pathogenic
7	55199064	C	T	C55199064T	EGFR	NM_005228.5(EGFR):c.2848+201C>T	noncoding	Benign
7	55200055	A	T	A55200055T	EGFR	NM_005228.5(EGFR):c.2849-261A>T	noncoding	Benign
7	55200384	C	T	C55200384T	EGFR	NM_005228.5(EGFR):c.2917C>T:p.Arg973Ter	coding	Pathogenic
7	55200604	C	T	C55200604T	EGFR	NM_005228.5(EGFR):c.2946+191C>T	noncoding	Benign
7	55200607	A	C	A55200607C	EGFR	NM_005228.5(EGFR):c.2946+194A>C	noncoding	Benign
7	55201302	C	T	C55201302T	EGFR	NM_005228.5(EGFR):c.3061C>T:p.Gln1021Ter	coding	Pathogenic
7	55201367	C	T	C55201367T	EGFR	NM_005228.5(EGFR):c.3114+12C>T	noncoding	Benign
7	55201571	T	G	T55201571G	EGFR	NM_005228.5(EGFR):c.3115-164T>G	noncoding	Benign
7	55201767	C	A	C55201767A	EGFR	NM_005228.5(EGFR):c.3147C>A:p.Cys1049Ter	coding	Pathogenic
7	55201818	C	T	C55201818T	EGFR	NM_005228.5(EGFR):c.3162+36C>T	noncoding	Benign
7	55202183	G	A	G55202183A	EGFR	NM_005228.5(EGFR):c.3163-334G>A	noncoding	Benign
7	55202427	A	G	A55202427G	EGFR	NM_005228.5(EGFR):c.3163-90A>G	noncoding	Benign
7	55205133	G	A	G55205133A	EGFR	NM_005228.5(EGFR):c.3272-123G>A	noncoding	Benign
7	55206391	T	C	T55206391C	EGFR	NM_005228.5(EGFR):c.*774T>C	noncoding	Benign
7	56061818	A	G	A56061818G	CCT6A	NM_001762.4(CCT6A):c.1419A>G:p.Ser473=	coding	Benign
7	56101726	C	T	C56101726T	CHCHD2	NM_016139.4(CHCHD2):c.*125G>A	noncoding	Benign
7	56102754	A	G	A56102754G	CHCHD2	NM_016139.4(CHCHD2):c.445+113T>C	noncoding	Benign
7	56102853	G	A	G56102853A	CHCHD2	NM_016139.4(CHCHD2):c.445+14C>T	noncoding	Benign
7	56104067	A	C	A56104067C	CHCHD2	NM_016139.4(CHCHD2):c.300+159T>G	noncoding	Benign
7	56106123	A	G	A56106123G	CHCHD2	NM_016139.4(CHCHD2):c.50+241T>C	noncoding	Benign
7	56106277	A	G	A56106277G	CHCHD2	NM_016139.4(CHCHD2):c.50+87T>C	noncoding	Benign
7	56106422	A	C	A56106422C	CHCHD2	NM_016139.4(CHCHD2):c.-9T>G	noncoding	Benign
7	56106447	G	T	G56106447T	CHCHD2	NM_016139.4(CHCHD2):c.-34C>A	noncoding	Benign
7	56106658	C	G	C56106658G	CHCHD2	Single_allele	noncoding	Benign
7	56106932	C	T	C56106932T	CHCHD2	Single_allele	noncoding	Benign
7	65964365	C	T	C65964365T	GUSB	NM_000181.4(GUSB):c.1747G>A:p.Gly583Arg	coding	Pathogenic
7	65967733	G	A	G65967733A	GUSB	NM_000181.4(GUSB):c.1651C>T:p.Gln551Ter	coding	Pathogenic
7	65974456	G	A	G65974456A	GUSB	NM_000181.4(GUSB):c.1245-15C>T	noncoding	Benign/Likely_benign
7	65976218	G	A	G65976218A	GUSB	NM_000181.4(GUSB):c.725-16C>T	noncoding	Benign
7	65979490	G	A	G65979490A	GUSB	NM_000181.4(GUSB):c.633C>T:p.Tyr211=	coding	Benign
7	65982021	G	A	G65982021A	GUSB	NM_000181.4(GUSB):c.163C>T:p.Arg55Ter	coding	Pathogenic
7	66076198	C	T	C66076198T	ASL	NM_000048.4(ASL):c.12+105C>T	noncoding	Benign
7	66081852	T	C	T66081852C	ASL	NM_000048.4(ASL):c.62T>C:p.Met21Thr	coding	Pathogenic
7	66082381	G	A	G66082381A	ASL	NM_000048.4(ASL):c.221G>A:p.Trp74Ter	coding	Pathogenic
7	66082440	C	T	C66082440T	ASL	NM_000048.4(ASL):c.280C>T:p.Arg94Cys	coding	Pathogenic/Likely_pathogenic
7	66082926	G	A	G66082926A	ASL	NM_000048.4(ASL):c.338G>A:p.Arg113Gln	coding	Pathogenic/Likely_pathogenic
7	66083164	C	T	C66083164T	ASL	NM_000048.4(ASL):c.436C>T:p.Arg146Trp	coding	Pathogenic
7	66083176	T	C	T66083176C	ASL	NM_000048.4(ASL):c.446+2T>C	noncoding	Pathogenic/Likely_pathogenic
7	66086397	G	A	G66086397A	ASL	NM_000048.4(ASL):c.447-188G>A	noncoding	Benign
7	66086647	G	A	G66086647A	ASL	NM_000048.4(ASL):c.509G>A:p.Ser170Asn	coding	Pathogenic
7	66086775	C	T	C66086775T	ASL	NM_000048.4(ASL):c.556C>T:p.Arg186Trp	coding	Pathogenic/Likely_pathogenic
7	66086785	A	G	A66086785G	ASL	NM_000048.4(ASL):c.566A>G:p.Glu189Gly	coding	Pathogenic/Likely_pathogenic
7	66087090	G	A	G66087090A	ASL	NM_000048.4(ASL):c.603-244G>A	noncoding	Benign
7	66087510	A	G	A66087510G	ASL	NM_000048.4(ASL):c.655+124A>G	noncoding	Benign
7	66087780	G	A	G66087780A	ASL	NM_000048.4(ASL):c.707G>A:p.Arg236Gln	coding	Pathogenic/Likely_pathogenic
7	66088806	G	A	G66088806A	ASL	NM_000048.4(ASL):c.719-1G>A	noncoding	Pathogenic
7	66088806	G	C	G66088806C	ASL	NM_000048.4(ASL):c.719-1G>C	noncoding	Pathogenic
7	66089335	G	C	G66089335C	ASL	NM_000048.4(ASL):c.978G>C:p.Gln326His	coding	Pathogenic/Likely_pathogenic
7	66089352	G	A	G66089352A	ASL	NM_000048.4(ASL):c.978+17G>A	noncoding	Benign
7	66089365	C	T	C66089365T	ASL	NM_000048.4(ASL):c.978+30C>T	noncoding	Benign
7	66089398	C	T	C66089398T	ASL	NM_000048.4(ASL):c.978+63C>T	noncoding	Benign
7	66091949	G	C	G66091949C	ASL	NM_000048.4(ASL):c.1063-57G>C	noncoding	Benign
7	66091985	C	T	C66091985T	ASL	NM_000048.4(ASL):c.1063-21C>T	noncoding	Benign
7	66092071	C	A	C66092071A	ASL	NM_000048.4(ASL):c.1128C>A:p.Tyr376Ter	coding	Pathogenic
7	66092606	C	A	C66092606A	ASL	NM_000048.4(ASL):c.1193C>A:p.Ala398Asp	coding	Pathogenic
7	66092632	C	T	C66092632T	ASL	NM_000048.4(ASL):c.1219C>T:p.Gln407Ter	coding	Pathogenic
7	66092721	G	A	G66092721A	ASL	NM_000048.4(ASL):c.1251-47G>A	noncoding	Benign
7	66092807	C	A	C66092807A	ASL	NM_000048.4(ASL):c.1290C>A:p.Tyr430Ter	coding	Pathogenic
7	66629203	C	T	C66629203T	KCTD7	NM_153033.5(KCTD7):c.139C>T:p.Gln47Ter	coding	Pathogenic
7	66629477	C	T	C66629477T	KCTD7	NM_153033.5(KCTD7):c.144+269C>T	noncoding	Benign
7	66633335	C	G	C66633335G	KCTD7	NM_153033.5(KCTD7):c.205C>G:p.Leu69Val	coding	Pathogenic
7	66633411	G	A	G66633411A	KCTD7	NM_153033.5(KCTD7):c.281G>A:p.Arg94Gln	coding	Pathogenic
7	66638229	C	T	C66638229T	KCTD7	NM_153033.5(KCTD7):c.315-24C>T	noncoding	Benign
7	66638326	C	T	C66638326T	KCTD7	NM_153033.5(KCTD7):c.388C>T:p.Gln130Ter	coding	Pathogenic
7	66639189	A	G	A66639189G	KCTD7	NM_153033.5(KCTD7):c.827A>G:p.Tyr276Cys	coding	Pathogenic
7	66988302	C	T	C66988302T	SBDS	NM_016038.4(SBDS):c.*69G>A	noncoding	Benign
7	66991148	G	A	G66991148A	SBDS	NM_016038.4(SBDS):c.613C>T:p.Gln205Ter	coding	Pathogenic
7	66993319	A	G	A66993319G	SBDS	NM_016038.4(SBDS):c.357T>C:p.Cys119=	coding	Benign/Likely_benign
7	66994158	A	C	A66994158C	SBDS	NM_016038.4(SBDS):c.258+54T>G	noncoding	Benign
7	66994287	A	G	A66994287G	SBDS	NM_016038.4(SBDS):c.183T>C:p.Ser61=	coding	Benign/Likely_benign
7	66994417	T	C	T66994417C	SBDS	NM_016038.4(SBDS):c.129-76A>G	noncoding	Benign
7	66994421	A	G	A66994421G	SBDS	NM_016038.4(SBDS):c.129-80T>C	noncoding	Benign
7	66994428	T	C	T66994428C	SBDS	NM_016038.4(SBDS):c.129-87A>G	noncoding	Benign
7	66995024	C	T	C66995024T	SBDS	NM_016038.4(SBDS):c.128+266G>A	noncoding	Benign
7	66995210	A	G	A66995210G	SBDS	NM_016038.4(SBDS):c.128+80T>C	noncoding	Benign
7	66995433	A	T	A66995433T	SBDS	NM_016038.4(SBDS):c.-16T>A	noncoding	Benign
7	69598914	T	G	T69598914G	AUTS2	NM_015570.4(AUTS2):c.-740T>G	noncoding	Benign
7	69599651	A	G	A69599651G	AUTS2	NM_015570.4(AUTS2):c.-3A>G	noncoding	Benign
7	69599654	A	T	A69599654T	AUTS2	NM_015570.4(AUTS2):c.1A>T:p.Met1Leu	coding	Pathogenic
7	69599655	T	C	T69599655C	AUTS2	NM_015570.4(AUTS2):c.2T>C:p.Met1Thr	coding	Pathogenic
7	69599664	C	T	C69599664T	AUTS2	NM_015570.4(AUTS2):c.11C>T:p.Pro4Leu	coding	Benign
7	69899325	C	T	C69899325T	AUTS2	NM_015570.4(AUTS2):c.349C>T:p.Arg117Cys	coding	Benign/Likely_benign
7	70118220	A	G	A70118220G	AUTS2	NM_015570.4(AUTS2):c.611A>G:p.Glu204Gly	coding	Benign/Likely_benign
7	70118235	T	C	T70118235C	AUTS2	NM_015570.4(AUTS2):c.624+2T>C	noncoding	Pathogenic
7	70290325	A	T	A70290325T	AUTS2	NM_015570.4(AUTS2):c.661-145427A>T	noncoding	Benign
7	70290755	G	A	G70290755A	AUTS2	NM_015570.4(AUTS2):c.661-144997G>A	coding	Benign
7	70435482	C	T	C70435482T	AUTS2	NM_015570.4(AUTS2):c.661-270C>T	noncoding	Benign
7	70435705	A	G	A70435705G	AUTS2	NM_015570.4(AUTS2):c.661-47A>G	noncoding	Benign
7	70698601	C	T	C70698601T	AUTS2	NM_015570.4(AUTS2):c.723C>T:p.Asn241=	coding	Benign
7	70762816	T	C	T70762816C	AUTS2	NM_015570.4(AUTS2):c.743-54T>C	noncoding	Benign
7	70762992	A	G	A70762992G	AUTS2	NM_015570.4(AUTS2):c.865A>G:p.Ile289Val	coding	Benign/Likely_benign
7	70763034	G	T	G70763034T	AUTS2	NM_015570.4(AUTS2):c.907G>T:p.Ala303Ser	coding	Benign
7	70763048	C	T	C70763048T	AUTS2	NM_015570.4(AUTS2):c.921C>T:p.Pro307=	coding	Benign
7	70763074	G	A	G70763074A	AUTS2	NM_015570.4(AUTS2):c.947G>A:p.Arg316Gln	coding	Benign
7	70763145	C	T	C70763145T	AUTS2	NM_015570.4(AUTS2):c.1018C>T:p.Gln340Ter	coding	Pathogenic
7	70763153	A	G	A70763153G	AUTS2	NM_015570.4(AUTS2):c.1026A>G:p.Pro342=	coding	Benign
7	70763582	C	T	C70763582T	AUTS2	NM_015570.4(AUTS2):c.1214+241C>T	noncoding	Benign
7	70764609	T	G	T70764609G	AUTS2	NM_015570.4(AUTS2):c.1215-143T>G	noncoding	Benign
7	70764699	C	T	C70764699T	AUTS2	NM_015570.4(AUTS2):c.1215-53C>T	noncoding	Benign
7	70764729	T	C	T70764729C	AUTS2	NM_015570.4(AUTS2):c.1215-23T>C	noncoding	Benign
7	70765028	C	A	C70765028A	AUTS2	NM_015570.4(AUTS2):c.1468+23C>A	noncoding	Benign
7	70765307	C	T	C70765307T	AUTS2	NM_015570.4(AUTS2):c.1468+302C>T	noncoding	Benign
7	70765808	C	T	C70765808T	AUTS2	NM_015570.4(AUTS2):c.1469-306C>T	noncoding	Benign
7	70765877	G	A	G70765877A	AUTS2	NM_015570.4(AUTS2):c.1469-237G>A	noncoding	Benign
7	70765919	G	C	G70765919C	AUTS2	NM_015570.4(AUTS2):c.1469-195G>C	noncoding	Benign
7	70766084	C	T	C70766084T	AUTS2	NM_015570.4(AUTS2):c.1469-30C>T	noncoding	Benign
7	70766489	C	T	C70766489T	AUTS2	NM_015570.4(AUTS2):c.1689+155C>T	noncoding	Benign
7	70766501	T	G	T70766501G	AUTS2	NM_015570.4(AUTS2):c.1689+167T>G	noncoding	Benign
7	70766561	G	A	G70766561A	AUTS2	NM_015570.4(AUTS2):c.1689+227G>A	noncoding	Benign
7	70766663	A	G	A70766663G	AUTS2	NM_015570.4(AUTS2):c.1689+329A>G	noncoding	Benign
7	70767761	A	G	A70767761G	AUTS2	NM_015570.4(AUTS2):c.1690-263A>G	noncoding	Benign
7	70768153	G	A	G70768153A	AUTS2	NM_015570.4(AUTS2):c.1734+85G>A	noncoding	Benign
7	70768283	G	A	G70768283A	AUTS2	NM_015570.4(AUTS2):c.1734+215G>A	noncoding	Benign
7	70771460	T	A	T70771460A	AUTS2	NM_015570.4(AUTS2):c.1735-89T>A	noncoding	Benign
7	70771801	T	C	T70771801C	AUTS2	NM_015570.4(AUTS2):c.1830+157T>C	noncoding	Benign
7	70771903	T	C	T70771903C	AUTS2	NM_015570.4(AUTS2):c.1830+259T>C	noncoding	Benign
7	70773872	G	C	G70773872C	AUTS2	NM_015570.4(AUTS2):c.1831-156G>C	noncoding	Benign
7	70775258	A	G	A70775258G	AUTS2	NM_015570.4(AUTS2):c.1903-99A>G	noncoding	Benign
7	70781385	C	A	C70781385A	AUTS2	NM_015570.4(AUTS2):c.2005-230C>A	noncoding	Benign
7	70781618	C	T	C70781618T	AUTS2	NM_015570.4(AUTS2):c.2008C>T:p.Gln670Ter	coding	Pathogenic
7	70781840	G	A	G70781840A	AUTS2	NM_015570.4(AUTS2):c.2146+84G>A	noncoding	Benign
7	70781912	G	T	G70781912T	AUTS2	NM_015570.4(AUTS2):c.2146+156G>T	noncoding	Benign
7	70781926	T	G	T70781926G	AUTS2	NM_015570.4(AUTS2):c.2146+170T>G	noncoding	Benign
7	70784721	G	C	G70784721C	AUTS2	NM_015570.4(AUTS2):c.2147-221G>C	noncoding	Benign
7	70784774	C	A	C70784774A	AUTS2	NM_015570.4(AUTS2):c.2147-168C>A	noncoding	Benign
7	70784882	G	A	G70784882A	AUTS2	NM_015570.4(AUTS2):c.2147-60G>A	noncoding	Benign
7	70784922	C	T	C70784922T	AUTS2	NM_015570.4(AUTS2):c.2147-20C>T	noncoding	Benign
7	70785139	T	C	T70785139C	AUTS2	NM_015570.4(AUTS2):c.2224+120T>C	noncoding	Benign
7	70785727	A	G	A70785727G	AUTS2	NM_015570.4(AUTS2):c.2225-228A>G	noncoding	Benign
7	70785888	A	G	A70785888G	AUTS2	NM_015570.4(AUTS2):c.2225-67A>G	noncoding	Benign
7	70786282	A	G	A70786282G	AUTS2	NM_015570.4(AUTS2):c.2308+244A>G	noncoding	Benign
7	70786937	G	A	G70786937A	AUTS2	NM_015570.4(AUTS2):c.2309-272G>A	noncoding	Benign
7	70787161	T	C	T70787161C	AUTS2	NM_015570.4(AUTS2):c.2309-48T>C	noncoding	Benign
7	70787199	A	G	A70787199G	AUTS2	NM_015570.4(AUTS2):c.2309-10A>G	noncoding	Benign
7	70787292	C	T	C70787292T	AUTS2	NM_015570.4(AUTS2):c.2392C>T:p.Arg798Ter	coding	Pathogenic
7	70787447	G	T	G70787447T	AUTS2	NM_015570.4(AUTS2):c.2531+16G>T	noncoding	Benign
7	70787602	A	G	A70787602G	AUTS2	NM_015570.4(AUTS2):c.2531+171A>G	noncoding	Benign
7	70787610	T	C	T70787610C	AUTS2	NM_015570.4(AUTS2):c.2531+179T>C	noncoding	Benign
7	70787659	G	A	G70787659A	AUTS2	NM_015570.4(AUTS2):c.2531+228G>A	noncoding	Benign
7	70789560	A	G	A70789560G	AUTS2	NM_015570.4(AUTS2):c.2532-188A>G	noncoding	Benign
7	70789591	G	C	G70789591C	AUTS2	NM_015570.4(AUTS2):c.2532-157G>C	noncoding	Benign
7	70789688	G	T	G70789688T	AUTS2	NM_015570.4(AUTS2):c.2532-60G>T	noncoding	Benign
7	70789769	C	G	C70789769G	AUTS2	NM_015570.4(AUTS2):c.2553C>G:p.His851Gln	coding	Benign/Likely_benign
7	70789918	G	A	G70789918A	AUTS2	NM_015570.4(AUTS2):c.2702G>A:p.Arg901His	coding	Benign
7	70790129	C	T	C70790129T	AUTS2	NM_015570.4(AUTS2):c.2913C>T:p.Tyr971=	coding	Benign
7	70790546	C	T	C70790546T	AUTS2	NM_015570.4(AUTS2):c.3330C>T:p.Tyr1110=	coding	Benign
7	70790653	G	T	G70790653T	AUTS2	NM_015570.4(AUTS2):c.3437G>T:p.Gly1146Val	coding	Benign/Likely_benign
7	70790939	C	T	C70790939T	AUTS2	NM_015570.4(AUTS2):c.3723C>T:p.Ser1241=	coding	Benign
7	70791209	C	T	C70791209T	AUTS2	NM_015570.4(AUTS2):c.*213C>T	noncoding	Benign
7	73340636	A	G	A73340636G	FKBP6	NM_003602.5(FKBP6):c.589-2A>G	noncoding	Pathogenic
7	73477424	C	T	C73477424T	BAZ1B	NM_032408.4(BAZ1B):c.2037G>A:p.Ser679=	coding	Benign
7	73593276	T	C	T73593276C	MLXIPL	NM_032951.3(MLXIPL):c.*589A>G	noncoding	Benign
7	73683122	A	T	A73683122T	DNAJC30	NM_032317.3(DNAJC30):c.302T>A:p.Leu101Gln	coding	Pathogenic
7	73683192	G	A	G73683192A	DNAJC30	NM_032317.3(DNAJC30):c.232C>T:p.Pro78Ser	coding	Pathogenic
7	73683324	C	T	C73683324T	DNAJC30	NM_032317.3(DNAJC30):c.100G>A:p.Gly34Arg	coding	Benign
7	73704424	C	T	C73704424T	STX1A	NM_004603.4(STX1A):c.284-1G>A	coding	Pathogenic
7	74028270	G	C	G74028270C	ELN	NM_000501.4(ELN):c.82+1G>C	coding	Pathogenic
7	74035425	T	C	T74035425C	ELN	NM_000501.4(ELN):c.133+11T>C	noncoding	Benign
7	74035430	C	A	C74035430A	ELN	NM_000501.4(ELN):c.133+16C>A	noncoding	Benign/Likely_benign
7	74035516	G	A	G74035516A	ELN	NM_000501.4(ELN):c.133+102G>A	noncoding	Benign
7	74036536	T	C	T74036536C	ELN	NM_000501.4(ELN):c.134-19T>C	noncoding	Benign/Likely_benign
7	74036550	C	A	C74036550A	ELN	NM_000501.4(ELN):c.134-5C>A	noncoding	Benign
7	74037810	G	A	G74037810A	ELN	NM_000501.4(ELN):c.196+71G>A	noncoding	Benign
7	74042964	C	T	C74042964T	ELN	NM_000501.4(ELN):c.326-20C>T	noncoding	Benign/Likely_benign
7	74043177	G	A	G74043177A	ELN	NM_000501.4(ELN):c.427+9G>A	noncoding	Benign/Likely_benign
7	74043260	G	C	G74043260C	ELN	NM_000501.4(ELN):c.427+92G>C	noncoding	Benign
7	74043934	G	A	G74043934A	ELN	NM_000501.4(ELN):c.469+14G>A	noncoding	Benign
7	74045197	C	T	C74045197T	ELN	NM_000501.4(ELN):c.470-25C>T	noncoding	Benign
7	74046742	T	A	T74046742A	ELN	NM_000501.4(ELN):c.618T>A:p.Tyr206Ter	coding	Pathogenic
7	74046783	G	A	G74046783A	ELN	NM_000501.4(ELN):c.643+16G>A	noncoding	Benign/Likely_benign
7	74047667	C	T	C74047667T	ELN	NM_000501.4(ELN):c.644-8C>T	noncoding	Benign/Likely_benign
7	74051749	G	A	G74051749A	ELN	NM_000501.4(ELN):c.800-1G>A	noncoding	Pathogenic
7	74051923	G	A	G74051923A	ELN	NM_000501.4(ELN):c.890-1G>A	noncoding	Pathogenic
7	74051982	T	A	T74051982A	ELN	NM_000501.4(ELN):c.948T>A:p.Tyr316Ter	coding	Pathogenic
7	74054839	C	T	C74054839T	ELN	NM_000501.4(ELN):c.1150+70C>T	noncoding	Benign
7	74056288	G	T	G74056288T	ELN	NM_000501.4(ELN):c.1168G>T:p.Gly390Ter	coding	Pathogenic
7	74056707	A	T	A74056707T	ELN	NM_000501.4(ELN):c.1351A>T:p.Lys451Ter	coding	Pathogenic
7	74057404	G	A	G74057404A	ELN	NM_000501.4(ELN):c.1358-236G>A	coding	Benign
7	74057686	C	T	C74057686T	ELN	NM_000501.4(ELN):c.1404C>T:p.Ala468=	coding	Benign
7	74057720	C	T	C74057720T	ELN	NM_000501.4(ELN):c.1414+24C>T	noncoding	Benign
7	74060196	G	A	G74060196A	ELN	NM_000501.4(ELN):c.1621+12G>A	noncoding	Benign
7	74060363	C	T	C74060363T	ELN	NM_000501.4(ELN):c.1622-13C>T	noncoding	Benign/Likely_benign
7	74060581	C	T	C74060581T	ELN	NM_000501.4(ELN):c.1747+80C>T	coding	Benign
7	74063244	G	A	G74063244A	ELN	NM_000501.4(ELN):c.1858+20G>A	noncoding	Benign/Likely_benign
7	74063388	T	G	T74063388G	ELN	NM_000501.4(ELN):c.1918+19T>G	noncoding	Benign
7	74066239	G	A	G74066239A	ELN	NM_000501.4(ELN):c.2086+242G>A	noncoding	Benign
7	74066698	C	T	C74066698T	ELN	NM_000501.4(ELN):c.2087-34C>T	noncoding	Benign
7	74529765	C	T	C74529765T	GTF2IRD1	NM_005685.4(GTF2IRD1):c.1122C>T:p.Pro374=	coding	Benign
7	74529855	T	C	T74529855C	GTF2IRD1	NM_005685.4(GTF2IRD1):c.1212T>C:p.Tyr404=	coding	Benign
7	74777361	T	C	T74777361C	NCF1	NM_000265.7(NCF1):c.153+14T>C	noncoding	Benign
7	74777383	C	T	C74777383T	NCF1	NM_000265.7(NCF1):c.153+36C>T	noncoding	Benign
7	74777420	G	C	G74777420C	NCF1	NM_000265.7(NCF1):c.153+73G>C	noncoding	Benign
7	74777454	C	T	C74777454T	NCF1	NM_000265.7(NCF1):c.153+107C>T	noncoding	Benign
7	74779372	C	T	C74779372T	NCF1	NM_000265.7(NCF1):c.345C>T:p.Leu115=	coding	Benign/Likely_benign
7	74782983	A	G	A74782983G	NCF1	NM_000265.7(NCF1):c.496A>G:p.Asn166Asp	coding	Benign/Likely_benign
7	74783532	G	A	G74783532A	NCF1	NM_000265.7(NCF1):c.582G>A:p.Trp194Ter	coding	Pathogenic
7	75954373	C	G	C75954373G	POR	NM_001395413.1(POR):c.179+193C>G	noncoding	Benign
7	75954453	G	A	G75954453A	POR	NM_001395413.1(POR):c.179+273G>A	noncoding	Benign
7	75972549	G	A	G75972549A	POR	NM_001395413.1(POR):c.228+88G>A	noncoding	Benign
7	75979356	G	T	G75979356T	POR	NM_001395413.1(POR):c.229-95G>T	noncoding	Benign
7	75979668	C	T	C75979668T	POR	NM_001395413.1(POR):c.357+89C>T	noncoding	Benign
7	75981445	G	A	G75981445A	POR	NM_001395413.1(POR):c.633-72G>A	noncoding	Benign
7	75981490	G	A	G75981490A	POR	NM_001395413.1(POR):c.633-27G>A	noncoding	Benign
7	75981644	C	T	C75981644T	POR	NM_001395413.1(POR):c.722+38C>T	noncoding	Benign
7	75981831	G	A	G75981831A	POR	NM_001395413.1(POR):c.722+225G>A	noncoding	Benign
7	75982037	C	T	C75982037T	POR	NM_001395413.1(POR):c.723-187C>T	noncoding	Benign
7	75982222	A	T	A75982222T	POR	NM_001395413.1(POR):c.723-2A>T	noncoding	Pathogenic
7	75982438	C	T	C75982438T	POR	NM_001395413.1(POR):c.821+116C>T	noncoding	Benign
7	75983452	C	G	C75983452G	POR	NM_001395413.1(POR):c.822-68C>G	noncoding	Benign
7	75983465	G	A	G75983465A	POR	NM_001395413.1(POR):c.822-55G>A	noncoding	Benign
7	75983485	C	T	C75983485T	POR	NM_001395413.1(POR):c.822-35C>T	noncoding	Benign/Likely_benign
7	75984680	C	T	C75984680T	POR	NM_001395413.1(POR):c.1058-97C>T	noncoding	Benign
7	75984710	C	T	C75984710T	POR	NM_001395413.1(POR):c.1058-67C>T	noncoding	Benign
7	75984711	T	C	T75984711C	POR	NM_001395413.1(POR):c.1058-66T>C	noncoding	Benign
7	75985406	G	A	G75985406A	POR	NM_001395413.1(POR):c.1390-173G>A	noncoding	Benign
7	75985459	G	A	G75985459A	POR	NM_001395413.1(POR):c.1390-120G>A	noncoding	Benign
7	75985545	T	C	T75985545C	POR	NM_001395413.1(POR):c.1390-34T>C	noncoding	Benign
7	75985546	G	T	G75985546T	POR	NM_001395413.1(POR):c.1390-33G>T	noncoding	Benign
7	75985828	C	A	C75985828A	POR	NM_001395413.1(POR):c.1639C>A:p.Arg547=	coding	Benign
7	75985906	C	T	C75985906T	POR	NM_001395413.1(POR):c.1661-17C>T	noncoding	Benign/Likely_benign
7	75986189	C	T	C75986189T	POR	NM_001395413.1(POR):c.1837C>T:p.Arg613Ter	coding	Pathogenic
7	76047898	C	T	C76047898T	MDH2	NM_001317785.2(STYXL1):c.-241G>A	noncoding	Benign
7	76048205	C	T	C76048205T	MDH2	NM_005918.4(MDH2):c.45C>T:p.Arg15=	coding	Benign/Likely_benign
7	76048243	G	A	G76048243A	MDH2	NM_005918.4(MDH2):c.66+17G>A	noncoding	Benign/Likely_benign
7	76048260	G	T	G76048260T	MDH2	NM_005918.4(MDH2):c.66+34G>T	noncoding	Benign
7	76048421	G	A	G76048421A	MDH2	NM_005918.4(MDH2):c.66+195G>A	noncoding	Benign
7	76054940	G	A	G76054940A	MDH2	NM_005918.4(MDH2):c.177G>A:p.Ala59=	coding	Benign/Likely_benign
7	76055008	G	A	G76055008A	MDH2	NM_005918.4(MDH2):c.235+10G>A	noncoding	Benign
7	76058078	G	A	G76058078A	MDH2	NM_005918.4(MDH2):c.429G>A:p.Pro143=	coding	Benign
7	76063494	G	T	G76063494T	MDH2	NM_005918.4(MDH2):c.556-21G>T	noncoding	Benign
7	76063609	C	T	C76063609T	MDH2	NM_005918.4(MDH2):c.633+17C>T	noncoding	Benign
7	76063647	C	G	C76063647G	MDH2	NM_005918.4(MDH2):c.633+55C>G	noncoding	Benign
7	76063691	C	T	C76063691T	MDH2	NM_005918.4(MDH2):c.633+99C>T	noncoding	Benign
7	76064645	T	C	T76064645C	MDH2	NM_005918.4(MDH2):c.734-157T>C	noncoding	Benign
7	76064761	T	G	T76064761G	MDH2	NM_005918.4(MDH2):c.734-41T>G	noncoding	Benign
7	76066295	A	G	A76066295G	MDH2	NM_005918.4(MDH2):c.902A>G:p.Lys301Arg	coding	Benign
7	76066359	G	A	G76066359A	MDH2	NM_005918.4(MDH2):c.966G>A:p.Glu322=	coding	Benign/Likely_benign
7	76066590	A	G	A76066590G	MDH2	NM_005918.4(MDH2):c.*180A>G	noncoding	Benign
7	76303030	G	C	G76303030C	HSPB1	NM_001540.5(HSPB1):c.318G>C:p.Pro106=	coding	Benign/Likely_benign
7	76303853	C	T	C76303853T	HSPB1	NM_001540.5(HSPB1):c.416C>T:p.Thr139Met	coding	Pathogenic/Likely_pathogenic
7	76303925	G	A	G76303925A	HSPB1	NM_001540.5(HSPB1):c.429-59G>A	noncoding	Benign
7	76303993	C	T	C76303993T	HSPB1	NM_001540.5(HSPB1):c.438C>T:p.Pro146=	coding	Benign/Likely_benign
7	76304395	T	G	T76304395G	HSPB1	Single_allele	noncoding	Benign
7	76329625	G	A	G76329625A	YWHAG	NM_012479.4(YWHAG):c.696C>T:p.Leu232=	coding	Benign
7	76329628	C	T	C76329628T	YWHAG	NM_012479.4(YWHAG):c.693G>A:p.Thr231=	coding	Benign
7	76329676	G	A	G76329676A	YWHAG	NM_012479.4(YWHAG):c.645C>T:p.Ser215=	coding	Benign
7	76329742	C	T	C76329742T	YWHAG	NM_012479.4(YWHAG):c.579G>A:p.Ala193=	coding	Benign
7	76329836	T	C	T76329836C	YWHAG	NM_012479.4(YWHAG):c.485A>G:p.Lys162Arg	coding	Benign
7	76329866	T	C	T76329866C	YWHAG	NM_012479.4(YWHAG):c.455A>G:p.Lys152Arg	coding	Benign
7	76329871	G	A	G76329871A	YWHAG	NM_012479.4(YWHAG):c.450C>T:p.Ser150=	coding	Benign
7	76329923	T	C	T76329923C	YWHAG	NM_012479.4(YWHAG):c.398A>G:p.Tyr133Cys	coding	Pathogenic
7	76330151	C	T	C76330151T	YWHAG	NM_012479.4(YWHAG):c.170G>A:p.Arg57His	coding	Pathogenic/Likely_pathogenic
7	76330152	G	A	G76330152A	YWHAG	NM_012479.4(YWHAG):c.169C>T:p.Arg57Cys	coding	Pathogenic
7	76330243	G	A	G76330243A	YWHAG	NM_012479.4(YWHAG):c.88-10C>T	noncoding	Benign
7	76358788	C	G	C76358788G	YWHAG	NM_012479.4(YWHAG):c.21G>C:p.Leu7=	coding	Benign
7	76434156	G	C	G76434156C	ZP3	NM_001110354.2(ZP3):c.831+1G>C	coding	Pathogenic
7	77627396	A	G	A77627396G	PTPN12	NM_002835.4(PTPN12):c.1717A>G:p.Thr573Ala	coding	Benign
7	78020197	C	T	C78020197T	MAGI2	NM_012301.4(MAGI2):c.3707-221G>A	noncoding	Benign
7	78078814	A	G	A78078814G	MAGI2	NM_012301.4(MAGI2):c.3706+133T>C	noncoding	Benign
7	78079414	A	G	A78079414G	MAGI2	NM_012301.4(MAGI2):c.3568-329T>C	noncoding	Benign
7	78125880	A	G	A78125880G	MAGI2	NM_012301.4(MAGI2):c.3424-43T>C	noncoding	Benign
7	78126028	G	C	G78126028C	MAGI2	NM_012301.4(MAGI2):c.3424-191C>G	noncoding	Benign
7	78126958	C	T	C78126958T	MAGI2	NM_012301.4(MAGI2):c.3423+239G>A	noncoding	Benign
7	78126960	C	T	C78126960T	MAGI2	NM_012301.4(MAGI2):c.3423+237G>A	noncoding	Benign
7	78127498	G	T	G78127498T	MAGI2	NM_012301.4(MAGI2):c.3204-82C>A	noncoding	Benign
7	78127532	C	T	C78127532T	MAGI2	NM_012301.4(MAGI2):c.3204-116G>A	noncoding	Benign
7	78127548	T	C	T78127548C	MAGI2	NM_012301.4(MAGI2):c.3204-132A>G	noncoding	Benign
7	78132696	C	T	C78132696T	MAGI2	NM_012301.4(MAGI2):c.3203+193G>A	noncoding	Benign
7	78132733	A	G	A78132733G	MAGI2	NM_012301.4(MAGI2):c.3203+156T>C	noncoding	Benign
7	78133140	T	C	T78133140C	MAGI2	NM_012301.4(MAGI2):c.3032-80A>G	noncoding	Benign
7	78134728	T	C	T78134728C	MAGI2	NM_012301.4(MAGI2):c.3031+293A>G	noncoding	Benign
7	78134762	G	A	G78134762A	MAGI2	NM_012301.4(MAGI2):c.3031+259C>T	noncoding	Benign
7	78134936	G	A	G78134936A	MAGI2	NM_012301.4(MAGI2):c.3031+85C>T	noncoding	Benign
7	78135274	C	A	C78135274A	MAGI2	NM_012301.4(MAGI2):c.2846-68G>T	noncoding	Benign
7	78135365	C	A	C78135365A	MAGI2	NM_012301.4(MAGI2):c.2846-159G>T	noncoding	Benign
7	78160254	G	A	G78160254A	MAGI2	NM_012301.4(MAGI2):c.2616C>T:p.Asn872=	coding	Benign/Likely_benign
7	78185852	A	G	A78185852G	MAGI2	NM_012301.4(MAGI2):c.2270-182T>C	noncoding	Benign
7	78194874	G	A	G78194874A	MAGI2	NM_012301.4(MAGI2):c.2269C>T:p.Gln757Ter	coding	Pathogenic
7	78200906	G	C	G78200906C	MAGI2	NM_012301.4(MAGI2):c.2079+256C>G	noncoding	Benign
7	78201093	C	A	C78201093A	MAGI2	NM_012301.4(MAGI2):c.2079+69G>T	noncoding	Benign
7	78201434	A	C	A78201434C	MAGI2	NM_012301.4(MAGI2):c.2048-241T>G	noncoding	Benign
7	78343604	A	C	A78343604C	MAGI2	NM_012301.4(MAGI2):c.1408+174T>G	noncoding	Benign
7	78343649	A	G	A78343649G	MAGI2	NM_012301.4(MAGI2):c.1408+129T>C	noncoding	Benign
7	78344139	C	T	C78344139T	MAGI2	NM_012301.4(MAGI2):c.1226-179G>A	noncoding	Benign
7	78345474	G	T	G78345474T	MAGI2	NM_012301.4(MAGI2):c.1225+448C>A	noncoding	Benign
7	78346307	C	T	C78346307T	MAGI2	NM_012301.4(MAGI2):c.1104-264G>A	noncoding	Benign
7	78368875	A	G	A78368875G	MAGI2	NM_012301.4(MAGI2):c.1103+281T>C	noncoding	Benign
7	78368951	T	C	T78368951C	MAGI2	NM_012301.4(MAGI2):c.1103+205A>G	noncoding	Benign
7	78369521	G	A	G78369521A	MAGI2	NM_012301.4(MAGI2):c.1046-308C>T	noncoding	Benign
7	78489529	A	G	A78489529G	MAGI2	NM_012301.4(MAGI2):c.1045+232T>C	noncoding	Benign
7	78489665	G	A	G78489665A	MAGI2	NM_012301.4(MAGI2):c.1045+96C>T	noncoding	Benign
7	78489882	A	C	A78489882C	MAGI2	NM_012301.4(MAGI2):c.966-42T>G	noncoding	Benign
7	78501318	T	G	T78501318G	MAGI2	NM_012301.4(MAGI2):c.965+259A>C	noncoding	Benign
7	78501359	G	A	G78501359A	MAGI2	NM_012301.4(MAGI2):c.965+218C>T	noncoding	Benign
7	78501407	G	T	G78501407T	MAGI2	NM_012301.4(MAGI2):c.965+170C>A	noncoding	Benign
7	78501423	G	A	G78501423A	MAGI2	NM_012301.4(MAGI2):c.965+154C>T	noncoding	Benign
7	78521237	T	A	T78521237A	MAGI2	NM_012301.4(MAGI2):c.754+193A>T	noncoding	Benign
7	78521252	T	A	T78521252A	MAGI2	NM_012301.4(MAGI2):c.754+178A>T	noncoding	Benign
7	78521320	T	C	T78521320C	MAGI2	NM_012301.4(MAGI2):c.754+110A>G	noncoding	Benign
7	78521808	A	C	A78521808C	MAGI2	NM_012301.4(MAGI2):c.539-163T>G	noncoding	Benign
7	78521824	A	G	A78521824G	MAGI2	NM_012301.4(MAGI2):c.539-179T>C	noncoding	Benign
7	78626963	T	C	T78626963C	MAGI2	NM_012301.4(MAGI2):c.538+157A>G	noncoding	Benign
7	78627026	C	T	C78627026T	MAGI2	NM_012301.4(MAGI2):c.538+94G>A	noncoding	Benign
7	78627327	G	T	G78627327T	MAGI2	NM_012301.4(MAGI2):c.419-88C>A	noncoding	Benign
7	79006868	A	G	A79006868G	MAGI2	NM_012301.4(MAGI2):c.418+222T>C	noncoding	Benign
7	79006886	T	C	T79006886C	MAGI2	NM_012301.4(MAGI2):c.418+204A>G	noncoding	Benign
7	79452940	T	A	T79452940A	MAGI2	NM_012301.4(MAGI2):c.301+80A>T	noncoding	Benign
7	79453421	A	C	A79453421C	MAGI2	NM_012301.4(MAGI2):c.-101T>G	noncoding	Benign
7	79453831	C	G	C79453831G	MAGI2	Single_allele	noncoding	Benign
7	80203760	A	T	A80203760T	GNAI1	NM_002069.6(GNAI1):c.518A>T:p.Asp173Val	coding	Pathogenic
7	80211049	G	A	G80211049A	GNAI1	NM_002069.6(GNAI1):c.671G>A:p.Cys224Tyr	coding	Pathogenic
7	80212804	A	G	A80212804G	GNAI1	NM_002069.6(GNAI1):c.809A>G:p.Lys270Arg	coding	Pathogenic
7	80212810	A	G	A80212810G	GNAI1	NM_002069.6(GNAI1):c.815A>G:p.Asp272Gly	coding	Pathogenic
7	80212841	T	C	T80212841C	GNAI1	NM_002069.6(GNAI1):c.846T>C:p.Pro282=	coding	Benign
7	80217423	T	A	T80217423A	GNAI1	NM_002069.6(GNAI1):c.995T>A:p.Val332Glu	coding	Pathogenic
7	80615623	G	A	G80615623A	CD36	NM_001001547.3(CD36):c.-184+13244G>A	noncoding	Benign
7	80646861	G	A	G80646861A	CD36	NM_001001548.3(CD36):c.120+1G>A	coding	Pathogenic
7	80647015	C	T	C80647015T	CD36	NM_001001548.3(CD36):c.120+155C>T	noncoding	Benign
7	80647178	G	A	G80647178A	CD36	NM_001001548.3(CD36):c.120+318G>A	noncoding	Benign
7	80657624	C	A	C80657624A	CD36	NM_001001548.3(CD36):c.281+924C>A	noncoding	Benign
7	80661212	T	C	T80661212C	CD36	NM_001001548.3(CD36):c.429+2T>C	noncoding	Benign
7	80664600	C	T	C80664600T	CD36	NM_001001548.3(CD36):c.701+103C>T	noncoding	Benign
7	80664664	G	A	G80664664A	CD36	NM_001001548.3(CD36):c.701+167G>A	noncoding	Benign
7	80666470	C	A	C80666470A	CD36	NM_001001548.3(CD36):c.729C>A:p.Cys243Ter	coding	Pathogenic
7	80666752	T	G	T80666752G	CD36	NM_001001548.3(CD36):c.748+263T>G	noncoding	Benign
7	80669797	G	A	G80669797A	CD36	NM_001001548.3(CD36):c.749-156G>A	noncoding	Benign
7	80671688	T	C	T80671688C	CD36	NM_001001548.3(CD36):c.1007-234T>C	noncoding	Benign
7	80672053	C	A	C80672053A	CD36	NM_001001548.3(CD36):c.1125+13C>A	noncoding	Benign/Likely_benign
7	80672184	G	A	G80672184A	CD36	NM_001001548.3(CD36):c.1125+144G>A	noncoding	Benign
7	80672620	C	A	C80672620A	CD36	NM_001001548.3(CD36):c.1126-150C>A	noncoding	Benign
7	80672880	G	A	G80672880A	CD36	NM_001001548.3(CD36):c.1199+37G>A	noncoding	Benign
7	80673074	C	T	C80673074T	CD36	NM_001001548.3(CD36):c.1199+231C>T	noncoding	Benign
7	80674446	T	G	T80674446G	CD36	NM_001001548.3(CD36):c.*1419+299T>G	noncoding	Benign
7	80798214	C	T	C80798214T	SEMA3C	NM_006379.5(SEMA3C):c.1009G>A:p.Val337Met	coding	Benign
7	81702835	G	T	G81702835T	HGF	NM_000601.6(HGF):c.2011-78C>A	noncoding	Benign
7	81706144	C	T	C81706144T	HGF	NM_000601.6(HGF):c.1757+143G>A	noncoding	Benign
7	81707123	T	C	T81707123C	HGF	NM_000601.6(HGF):c.1616+167A>G	noncoding	Benign
7	81709891	C	T	C81709891T	HGF	NM_000601.6(HGF):c.1541+256G>A	noncoding	Benign
7	81709988	A	C	A81709988C	HGF	NM_000601.6(HGF):c.1541+159T>G	noncoding	Benign
7	81716976	A	G	A81716976G	HGF	NM_000601.6(HGF):c.1405+256T>C	noncoding	Benign
7	81717104	G	A	G81717104A	HGF	NM_000601.6(HGF):c.1405+128C>T	noncoding	Benign
7	81717609	G	A	G81717609A	HGF	NM_000601.6(HGF):c.1272-244C>T	noncoding	Benign
7	81720892	A	G	A81720892G	HGF	NM_000601.6(HGF):c.1169-45T>C	noncoding	Benign
7	81720907	G	A	G81720907A	HGF	NM_000601.6(HGF):c.1169-60C>T	noncoding	Benign
7	81725750	G	A	G81725750A	HGF	NM_000601.6(HGF):c.1168+140C>T	noncoding	Benign
7	81726133	T	A	T81726133A	HGF	NM_000601.6(HGF):c.1041-116A>T	noncoding	Benign
7	81726186	T	A	T81726186A	HGF	NM_000601.6(HGF):c.1041-169A>T	noncoding	Benign
7	81729396	G	A	G81729396A	HGF	NM_000601.6(HGF):c.1040+209C>T	noncoding	Benign
7	81742731	A	G	A81742731G	HGF	NM_000601.6(HGF):c.865+622T>C	coding	Benign
7	81742763	A	G	A81742763G	HGF	NM_000601.6(HGF):c.865+590T>C	coding	Benign
7	81742840	A	G	A81742840G	HGF	NM_000601.6(HGF):c.865+513T>C	coding	Benign
7	81743136	A	G	A81743136G	HGF	NM_000601.6(HGF):c.865+217T>C	noncoding	Benign
7	81745184	G	C	G81745184C	HGF	NM_000601.6(HGF):c.626-64C>G	noncoding	Benign
7	81752010	C	T	C81752010T	HGF	NM_000601.6(HGF):c.625+110G>A	coding	Benign
7	81752415	T	C	T81752415C	HGF	NM_000601.6(HGF):c.483-153A>G	noncoding	Benign
7	81762519	C	T	C81762519T	HGF	NM_000601.6(HGF):c.254+188G>A	noncoding	Benign
7	81950272	A	T	A81950272T	CACNA2D1	NM_000722.4(CACNA2D1):c.*120T>A	noncoding	Benign
7	81950831	A	C	A81950831C	CACNA2D1	NM_000722.4(CACNA2D1):c.3160-323T>G	noncoding	Benign
7	81959998	A	C	A81959998C	CACNA2D1	NM_000722.4(CACNA2D1):c.2967-169T>G	noncoding	Benign
7	81961711	T	C	T81961711C	CACNA2D1	NM_000722.4(CACNA2D1):c.2966+183A>G	noncoding	Benign
7	81962037	G	C	G81962037C	CACNA2D1	NM_000722.4(CACNA2D1):c.2837-14C>G	noncoding	Benign/Likely_benign
7	81962400	T	G	T81962400G	CACNA2D1	NM_000722.4(CACNA2D1):c.2836+40A>C	noncoding	Benign
7	81963904	T	C	T81963904C	CACNA2D1	NM_000722.4(CACNA2D1):c.2780+152A>G	noncoding	Benign
7	81964138	G	A	G81964138A	CACNA2D1	NM_000722.4(CACNA2D1):c.2728-30C>T	noncoding	Benign
7	81964213	T	A	T81964213A	CACNA2D1	NM_000722.4(CACNA2D1):c.2721A>T:p.Ala907=	coding	Benign/Likely_benign
7	81964453	A	G	A81964453G	CACNA2D1	NM_000722.4(CACNA2D1):c.2575-94T>C	noncoding	Benign
7	81967211	A	C	A81967211C	CACNA2D1	NM_000722.4(CACNA2D1):c.2464-4T>G	noncoding	Benign/Likely_benign
7	81967497	T	C	T81967497C	CACNA2D1	NM_000722.4(CACNA2D1):c.2463+99A>G	noncoding	Benign
7	81969167	T	A	T81969167A	CACNA2D1	NM_000722.4(CACNA2D1):c.2309-194A>T	noncoding	Benign
7	81971860	G	A	G81971860A	CACNA2D1	NM_000722.4(CACNA2D1):c.2058C>T:p.Asn686=	coding	Benign/Likely_benign
7	81974319	C	T	C81974319T	CACNA2D1	NM_000722.4(CACNA2D1):c.2053+136G>A	noncoding	Benign
7	81974822	T	C	T81974822C	CACNA2D1	NM_000722.4(CACNA2D1):c.1956-270A>G	noncoding	Benign
7	81994626	T	A	T81994626A	CACNA2D1	NM_000722.4(CACNA2D1):c.1734+242A>T	noncoding	Benign
7	81994830	T	A	T81994830A	CACNA2D1	NM_000722.4(CACNA2D1):c.1734+38A>T	noncoding	Benign
7	81995243	G	C	G81995243C	CACNA2D1	NM_000722.4(CACNA2D1):c.1663-304C>G	noncoding	Benign
7	81997040	G	A	G81997040A	CACNA2D1	NM_000722.4(CACNA2D1):c.1662+139C>T	noncoding	Benign
7	81997049	C	T	C81997049T	CACNA2D1	NM_000722.4(CACNA2D1):c.1662+130G>A	noncoding	Benign
7	81997321	C	T	C81997321T	CACNA2D1	NM_000722.4(CACNA2D1):c.1591-71G>A	noncoding	Benign
7	81997478	G	C	G81997478C	CACNA2D1	NM_000722.4(CACNA2D1):c.1591-228C>G	noncoding	Benign
7	81997507	A	G	A81997507G	CACNA2D1	NM_000722.4(CACNA2D1):c.1591-257T>C	noncoding	Benign
7	81997539	T	C	T81997539C	CACNA2D1	NM_000722.4(CACNA2D1):c.1591-289A>G	noncoding	Benign
7	82005662	T	C	T82005662C	CACNA2D1	NM_000722.4(CACNA2D1):c.1515+103A>G	noncoding	Benign
7	82005845	A	G	A82005845G	CACNA2D1	NM_000722.4(CACNA2D1):c.1441-6T>C	noncoding	Benign
7	82005864	C	G	C82005864G	CACNA2D1	NM_000722.4(CACNA2D1):c.1441-25G>C	noncoding	Benign
7	82005972	C	A	C82005972A	CACNA2D1	NM_000722.4(CACNA2D1):c.1441-133G>T	noncoding	Benign
7	82005978	C	T	C82005978T	CACNA2D1	NM_000722.4(CACNA2D1):c.1441-139G>A	noncoding	Benign
7	82006093	A	G	A82006093G	CACNA2D1	NM_000722.4(CACNA2D1):c.1441-254T>C	noncoding	Benign
7	82007534	G	A	G82007534A	CACNA2D1	NM_000722.4(CACNA2D1):c.1440+145C>T	noncoding	Benign
7	82007840	T	C	T82007840C	CACNA2D1	NM_000722.4(CACNA2D1):c.1363-84A>G	noncoding	Benign
7	82008029	A	T	A82008029T	CACNA2D1	NM_000722.4(CACNA2D1):c.1363-273T>A	noncoding	Benign
7	82012362	C	G	C82012362G	CACNA2D1	NM_000722.4(CACNA2D1):c.1273-119G>C	noncoding	Benign
7	82013318	A	C	A82013318C	CACNA2D1	NM_000722.4(CACNA2D1):c.1272+143T>G	noncoding	Benign
7	82013633	C	T	C82013633T	CACNA2D1	NM_000722.4(CACNA2D1):c.1223-123G>A	noncoding	Benign
7	82014671	A	G	A82014671G	CACNA2D1	NM_000722.4(CACNA2D1):c.1144-192T>C	noncoding	Benign
7	82038065	C	T	C82038065T	CACNA2D1	NM_000722.4(CACNA2D1):c.1038+12G>A	noncoding	Benign
7	82066442	T	G	T82066442G	CACNA2D1	NM_000722.4(CACNA2D1):c.728+13A>C	noncoding	Benign/Likely_benign
7	82066541	A	G	A82066541G	CACNA2D1	NM_000722.4(CACNA2D1):c.659-17T>C	noncoding	Benign/Likely_benign
7	82066780	T	C	T82066780C	CACNA2D1	NM_000722.4(CACNA2D1):c.659-256A>G	noncoding	Benign
7	82084643	G	A	G82084643A	CACNA2D1	NM_000722.4(CACNA2D1):c.658+126C>T	noncoding	Benign
7	82117304	C	A	C82117304A	CACNA2D1	NM_000722.4(CACNA2D1):c.397-131G>T	noncoding	Benign
7	82117379	T	C	T82117379C	CACNA2D1	NM_000722.4(CACNA2D1):c.397-206A>G	noncoding	Benign
7	82170333	G	T	G82170333T	CACNA2D1	NM_000722.4(CACNA2D1):c.354+217C>A	noncoding	Benign
7	82170334	T	G	T82170334G	CACNA2D1	NM_000722.4(CACNA2D1):c.354+216A>C	noncoding	Benign
7	82334918	C	T	C82334918T	CACNA2D1	NM_000722.4(CACNA2D1):c.294+217G>A	noncoding	Benign
7	82443125	G	C	G82443125C	CACNA2D1	NM_000722.4(CACNA2D1):c.95+240C>G	noncoding	Benign
7	82758644	G	A	G82758644A	PCLO	NM_033026.6(PCLO):c.15360C>T:p.Asp5120=	coding	Benign
7	82760632	G	T	G82760632T	PCLO	NM_033026.6(PCLO):c.15288+7C>A	noncoding	Benign
7	82805717	C	T	C82805717T	PCLO	NM_033026.6(PCLO):c.14904G>A:p.Gly4968=	coding	Benign
7	82824384	G	A	G82824384A	PCLO	NM_033026.6(PCLO):c.14448C>T:p.Leu4816=	coding	Benign
7	82824392	A	C	A82824392C	PCLO	NM_033026.6(PCLO):c.14440T>G:p.Ser4814Ala	coding	Benign
7	82826579	A	G	A82826579G	PCLO	NM_033026.6(PCLO):c.14415+10T>C	noncoding	Benign
7	82826607	G	C	G82826607C	PCLO	NM_033026.6(PCLO):c.14397C>G:p.Ser4799=	coding	Benign/Likely_benign
7	82827986	A	G	A82827986G	PCLO	NM_033026.6(PCLO):c.14250-20T>C	noncoding	Benign
7	82838276	G	A	G82838276A	PCLO	NM_033026.6(PCLO):c.14164C>T:p.Arg4722Ter	coding	Pathogenic
7	82902643	T	C	T82902643C	PCLO	NM_033026.6(PCLO):c.13528+8A>G	noncoding	Benign
7	82908922	C	T	C82908922T	PCLO	NM_033026.6(PCLO):c.13392G>A:p.Pro4464=	coding	Benign
7	82908933	G	A	G82908933A	PCLO	NM_033026.6(PCLO):c.13381C>T:p.Arg4461Ter	coding	Pathogenic
7	82908939	G	A	G82908939A	PCLO	NM_033026.6(PCLO):c.13375C>T:p.Leu4459=	coding	Benign
7	82909032	C	T	C82909032T	PCLO	NM_033026.6(PCLO):c.13301-19G>A	noncoding	Benign
7	82914670	T	C	T82914670C	PCLO	NM_033026.6(PCLO):c.13300+16A>G	noncoding	Benign
7	82915186	A	G	A82915186G	PCLO	NM_033026.6(PCLO):c.12800T>C:p.Leu4267Ser	coding	Benign
7	82915194	C	T	C82915194T	PCLO	NM_033026.6(PCLO):c.12792G>A:p.Leu4264=	coding	Benign
7	82915671	A	G	A82915671G	PCLO	NM_033026.6(PCLO):c.12315T>C:p.His4105=	coding	Benign
7	82915806	C	T	C82915806T	PCLO	NM_033026.6(PCLO):c.12180G>A:p.Ala4060=	coding	Benign
7	82916059	G	C	G82916059C	PCLO	NM_033026.6(PCLO):c.11927C>G:p.Ser3976Ter	coding	Pathogenic
7	82916751	T	A	T82916751A	PCLO	NM_033026.6(PCLO):c.11235A>T:p.Thr3745=	coding	Benign
7	82916814	C	T	C82916814T	PCLO	NM_033026.6(PCLO):c.11172G>A:p.Leu3724=	coding	Benign
7	82949821	G	C	G82949821C	PCLO	NM_033026.6(PCLO):c.10767C>G:p.Asp3589Glu	coding	Benign
7	82949920	A	T	A82949920T	PCLO	NM_033026.6(PCLO):c.10668T>A:p.Pro3556=	coding	Benign/Likely_benign
7	82950241	G	A	G82950241A	PCLO	NM_033026.6(PCLO):c.10347C>T:p.Asp3449=	coding	Benign
7	82950285	G	A	G82950285A	PCLO	NM_033026.6(PCLO):c.10303C>T:p.Arg3435Ter	coding	Pathogenic
7	82950442	A	C	A82950442C	PCLO	NM_033026.6(PCLO):c.10146T>G:p.Thr3382=	coding	Benign
7	82951069	A	G	A82951069G	PCLO	NM_033026.6(PCLO):c.9519T>C:p.Leu3173=	coding	Benign/Likely_benign
7	82951440	G	A	G82951440A	PCLO	NM_033026.6(PCLO):c.9148C>T:p.Arg3050Ter	coding	Pathogenic
7	82952219	T	C	T82952219C	PCLO	NM_033026.6(PCLO):c.8734A>G:p.Met2912Val	coding	Benign
7	82952291	C	T	C82952291T	PCLO	NM_033026.6(PCLO):c.8662G>A:p.Val2888Ile	coding	Benign
7	82952452	G	A	G82952452A	PCLO	NM_033026.6(PCLO):c.8501C>T:p.Pro2834Leu	coding	Benign
7	82952543	C	T	C82952543T	PCLO	NM_033026.6(PCLO):c.8410G>A:p.Ala2804Thr	coding	Benign
7	82952942	T	G	T82952942G	PCLO	NM_033026.6(PCLO):c.8011A>C:p.Thr2671Pro	coding	Benign
7	82953348	G	A	G82953348A	PCLO	NM_033026.6(PCLO):c.7605C>T:p.Gly2535=	coding	Benign
7	82953447	C	T	C82953447T	PCLO	NM_033026.6(PCLO):c.7506G>A:p.Arg2502=	coding	Benign
7	82953530	C	T	C82953530T	PCLO	NM_033026.6(PCLO):c.7423G>A:p.Val2475Ile	coding	Benign
7	82953631	T	C	T82953631C	PCLO	NM_033026.6(PCLO):c.7322A>G:p.Lys2441Arg	coding	Benign
7	82953783	A	T	A82953783T	PCLO	NM_033026.6(PCLO):c.7170T>A:p.Pro2390=	coding	Benign
7	82953964	C	T	C82953964T	PCLO	NM_033026.6(PCLO):c.6989G>A:p.Arg2330Gln	coding	Benign
7	82954072	A	G	A82954072G	PCLO	NM_033026.6(PCLO):c.6881T>C:p.Leu2294Pro	coding	Benign
7	82954293	A	C	A82954293C	PCLO	NM_033026.6(PCLO):c.6660T>G:p.Phe2220Leu	coding	Benign
7	82954437	A	G	A82954437G	PCLO	NM_033026.6(PCLO):c.6516T>C:p.Ser2172=	coding	Benign
7	82954466	T	A	T82954466A	PCLO	NM_033026.6(PCLO):c.6487A>T:p.Ile2163Phe	coding	Benign
7	82955388	A	G	A82955388G	PCLO	NM_033026.6(PCLO):c.5565T>C:p.Ser1855=	coding	Benign
7	82956167	C	A	C82956167A	PCLO	NM_033026.6(PCLO):c.4786G>T:p.Glu1596Ter	coding	Pathogenic
7	82956201	C	T	C82956201T	PCLO	NM_033026.6(PCLO):c.4752G>A:p.Glu1584=	coding	Benign
7	82956907	G	C	G82956907C	PCLO	NM_033026.6(PCLO):c.4046C>G:p.Ser1349Ter	coding	Pathogenic
7	82966008	C	T	C82966008T	PCLO	NM_033026.6(PCLO):c.3780G>A:p.Gln1260=	coding	Benign
7	82966290	C	T	C82966290T	PCLO	NM_033026.6(PCLO):c.3498G>A:p.Thr1166=	coding	Benign/Likely_benign
7	82966426	T	C	T82966426C	PCLO	NM_033026.6(PCLO):c.3362A>G:p.Asp1121Gly	coding	Benign
7	83134242	T	A	T83134242A	PCLO	NM_033026.6(PCLO):c.3300+8A>T	noncoding	Benign
7	83134527	A	T	A83134527T	PCLO	NM_033026.6(PCLO):c.3023T>A:p.Leu1008Ter	coding	Pathogenic
7	83134595	T	C	T83134595C	PCLO	NM_033026.6(PCLO):c.2955A>G:p.Gln985=	coding	Benign
7	83135109	C	G	C83135109G	PCLO	NM_033026.6(PCLO):c.2441G>C:p.Ser814Thr	coding	Benign
7	83135338	G	T	G83135338T	PCLO	NM_033026.6(PCLO):c.2212C>A:p.Pro738Thr	coding	Benign
7	83154701	G	T	G83154701T	PCLO	NM_033026.6(PCLO):c.1893+47C>A	noncoding	Benign
7	83154790	G	A	G83154790A	PCLO	NM_033026.6(PCLO):c.1851C>T:p.Val617=	coding	Benign
7	83155140	A	G	A83155140G	PCLO	NM_033026.6(PCLO):c.1501T>C:p.Ser501Pro	coding	Benign
7	83155317	G	A	G83155317A	PCLO	NM_033026.6(PCLO):c.1324C>T:p.Gln442Ter	coding	Pathogenic
7	83155516	C	G	C83155516G	PCLO	NM_033026.6(PCLO):c.1125G>C:p.Gln375His	coding	Benign
7	83155570	C	A	C83155570A	PCLO	NM_033026.6(PCLO):c.1071G>T:p.Gly357=	coding	Benign
7	83155582	G	A	G83155582A	PCLO	NM_033026.6(PCLO):c.1059C>T:p.Val353=	coding	Benign
7	83155781	T	C	T83155781C	PCLO	NM_033026.6(PCLO):c.860A>G:p.Asp287Gly	coding	Benign
7	83155783	T	G	T83155783G	PCLO	NM_033026.6(PCLO):c.858A>C:p.Ala286=	coding	Benign
7	83155816	T	C	T83155816C	PCLO	NM_033026.6(PCLO):c.825A>G:p.Gln275=	coding	Benign
7	83156055	C	A	C83156055A	PCLO	NM_033026.6(PCLO):c.586G>T:p.Val196Phe	coding	Benign
7	83156153	A	T	A83156153T	PCLO	NM_033026.6(PCLO):c.488T>A:p.Leu163Ter	coding	Pathogenic
7	83156181	G	T	G83156181T	PCLO	NM_033026.6(PCLO):c.460C>A:p.Pro154Thr	coding	Benign
7	83156408	A	G	A83156408G	PCLO	NM_033026.6(PCLO):c.249-16T>C	noncoding	Benign
7	83367330	A	G	A83367330G	SEMA3E	NM_012431.3(SEMA3E):c.*256T>C	noncoding	Benign
7	83367390	A	T	A83367390T	SEMA3E	NM_012431.3(SEMA3E):c.*196T>A	noncoding	Benign
7	83367515	A	T	A83367515T	SEMA3E	NM_012431.3(SEMA3E):c.*71T>A	noncoding	Benign
7	83367540	T	G	T83367540G	SEMA3E	NM_012431.3(SEMA3E):c.*46A>C	noncoding	Benign
7	83368209	C	G	C83368209G	SEMA3E	NM_012431.3(SEMA3E):c.1876-171G>C	noncoding	Benign
7	83368273	A	G	A83368273G	SEMA3E	NM_012431.3(SEMA3E):c.1876-235T>C	noncoding	Benign
7	83385234	A	G	A83385234G	SEMA3E	NM_012431.3(SEMA3E):c.1875+60T>C	noncoding	Benign
7	83385622	C	G	C83385622G	SEMA3E	NM_012431.3(SEMA3E):c.1736-189G>C	noncoding	Benign
7	83385680	A	G	A83385680G	SEMA3E	NM_012431.3(SEMA3E):c.1736-247T>C	noncoding	Benign
7	83385697	A	T	A83385697T	SEMA3E	NM_012431.3(SEMA3E):c.1736-264T>A	noncoding	Benign
7	83387098	G	A	G83387098A	SEMA3E	NM_012431.3(SEMA3E):c.1668-48C>T	noncoding	Benign
7	83387169	A	G	A83387169G	SEMA3E	NM_012431.3(SEMA3E):c.1668-119T>C	noncoding	Benign
7	83387222	T	C	T83387222C	SEMA3E	NM_012431.3(SEMA3E):c.1668-172A>G	noncoding	Benign
7	83392267	G	T	G83392267T	SEMA3E	NM_012431.3(SEMA3E):c.1667+288C>A	noncoding	Benign
7	83394050	T	C	T83394050C	SEMA3E	NM_012431.3(SEMA3E):c.1500+247A>G	noncoding	Benign
7	83399943	C	T	C83399943T	SEMA3E	NM_012431.3(SEMA3E):c.1366+85G>A	noncoding	Benign
7	83399964	T	G	T83399964G	SEMA3E	NM_012431.3(SEMA3E):c.1366+64A>C	noncoding	Benign
7	83399987	G	A	G83399987A	SEMA3E	NM_012431.3(SEMA3E):c.1366+41C>T	noncoding	Benign
7	83400323	A	C	A83400323C	SEMA3E	NM_012431.3(SEMA3E):c.1144-73T>G	noncoding	Benign
7	83400323	A	T	A83400323T	SEMA3E	NM_012431.3(SEMA3E):c.1144-73T>A	noncoding	Benign
7	83402479	A	G	A83402479G	SEMA3E	NM_012431.3(SEMA3E):c.1143+153T>C	noncoding	Benign
7	83402591	T	C	T83402591C	SEMA3E	NM_012431.3(SEMA3E):c.1143+41A>G	noncoding	Benign
7	83402871	T	C	T83402871C	SEMA3E	NM_012431.3(SEMA3E):c.999-95A>G	noncoding	Benign
7	83405583	T	G	T83405583G	SEMA3E	NM_012431.3(SEMA3E):c.929-64A>C	noncoding	Benign
7	83405756	C	A	C83405756A	SEMA3E	NM_012431.3(SEMA3E):c.928+189G>T	noncoding	Benign
7	83405861	G	A	G83405861A	SEMA3E	NM_012431.3(SEMA3E):c.928+84C>T	noncoding	Benign
7	83406882	G	C	G83406882C	SEMA3E	NM_012431.3(SEMA3E):c.813+215C>G	noncoding	Benign
7	83406905	G	A	G83406905A	SEMA3E	NM_012431.3(SEMA3E):c.813+192C>T	noncoding	Benign
7	83407051	C	G	C83407051G	SEMA3E	NM_012431.3(SEMA3E):c.813+46G>C	noncoding	Benign
7	83407286	T	A	T83407286A	SEMA3E	NM_012431.3(SEMA3E):c.671-47A>T	noncoding	Benign
7	83407545	G	A	G83407545A	SEMA3E	NM_012431.3(SEMA3E):c.671-306C>T	noncoding	Benign
7	83408493	C	T	C83408493T	SEMA3E	NM_012431.3(SEMA3E):c.551-6G>A	noncoding	Benign
7	83408641	G	A	G83408641A	SEMA3E	NM_012431.3(SEMA3E):c.551-154C>T	noncoding	Benign
7	83408791	A	G	A83408791G	SEMA3E	NM_012431.3(SEMA3E):c.551-304T>C	noncoding	Benign
7	83408792	T	C	T83408792C	SEMA3E	NM_012431.3(SEMA3E):c.551-305A>G	noncoding	Benign
7	83418125	C	A	C83418125A	SEMA3E	NM_012431.3(SEMA3E):c.550+265G>T	noncoding	Benign
7	83418267	T	C	T83418267C	SEMA3E	NM_012431.3(SEMA3E):c.550+123A>G	noncoding	Benign
7	83418269	A	C	A83418269C	SEMA3E	NM_012431.3(SEMA3E):c.550+121T>G	noncoding	Benign
7	83418350	C	T	C83418350T	SEMA3E	NM_012431.3(SEMA3E):c.550+40G>A	noncoding	Benign
7	83418567	G	A	G83418567A	SEMA3E	NM_012431.3(SEMA3E):c.457-84C>T	noncoding	Benign
7	83466277	G	A	G83466277A	SEMA3E	NM_012431.3(SEMA3E):c.456+205C>T	noncoding	Benign
7	83466377	G	A	G83466377A	SEMA3E	NM_012431.3(SEMA3E):c.456+105C>T	noncoding	Benign
7	83466639	A	G	A83466639G	SEMA3E	NM_012431.3(SEMA3E):c.337-38T>C	noncoding	Benign
7	83466652	C	A	C83466652A	SEMA3E	NM_012431.3(SEMA3E):c.337-51G>T	noncoding	Benign
7	83466902	A	T	A83466902T	SEMA3E	NM_012431.3(SEMA3E):c.337-301T>A	noncoding	Benign
7	83469011	A	G	A83469011G	SEMA3E	NM_012431.3(SEMA3E):c.336+232T>C	noncoding	Benign
7	83469380	T	A	T83469380A	SEMA3E	NM_012431.3(SEMA3E):c.277-78A>T	noncoding	Benign
7	83469433	G	A	G83469433A	SEMA3E	NM_012431.3(SEMA3E):c.277-131C>T	noncoding	Benign
7	83469478	C	T	C83469478T	SEMA3E	NM_012431.3(SEMA3E):c.277-176G>A	noncoding	Benign
7	83469542	T	C	T83469542C	SEMA3E	NM_012431.3(SEMA3E):c.277-240A>G	noncoding	Benign
7	83469583	G	A	G83469583A	SEMA3E	NM_012431.3(SEMA3E):c.277-281C>T	noncoding	Benign
7	83486148	G	C	G83486148C	SEMA3E	NM_012431.3(SEMA3E):c.276+3966C>G	noncoding	Benign
7	83490360	C	T	C83490360T	SEMA3E	NM_012431.3(SEMA3E):c.116-86G>A	noncoding	Benign
7	83490588	T	C	T83490588C	SEMA3E	NM_012431.3(SEMA3E):c.116-314A>G	noncoding	Benign
7	83648270	A	T	A83648270T	SEMA3E	NM_012431.3(SEMA3E):c.115+158T>A	noncoding	Benign
7	83648911	C	A	C83648911A	SEMA3E	NM_012431.3(SEMA3E):c.-369G>T	noncoding	Benign
7	83649098	C	T	C83649098T	SEMA3E	NM_012431.3(SEMA3E):c.-556G>A	noncoding	Benign
7	83649204	C	T	C83649204T	SEMA3E	Single_allele	noncoding	Benign
7	83649284	G	A	G83649284A	SEMA3E	Single_allele	noncoding	Benign
7	83963041	G	A	G83963041A	SEMA3A	NM_006080.3(SEMA3A):c.1860+164C>T	noncoding	Benign
7	83963175	T	C	T83963175C	SEMA3A	NM_006080.3(SEMA3A):c.1860+30A>G	noncoding	Benign
7	83963577	C	G	C83963577G	SEMA3A	NM_006080.3(SEMA3A):c.1718-230G>C	noncoding	Benign
7	83977186	G	A	G83977186A	SEMA3A	NM_006080.3(SEMA3A):c.1663C>T:p.Arg555Ter	coding	Pathogenic
7	83977202	G	A	G83977202A	SEMA3A	NM_006080.3(SEMA3A):c.1653-6C>T	noncoding	Benign
7	83977281	T	A	T83977281A	SEMA3A	NM_006080.3(SEMA3A):c.1653-85A>T	noncoding	Benign
7	83981181	C	A	C83981181A	SEMA3A	NM_006080.3(SEMA3A):c.1652+140G>T	noncoding	Benign
7	83981224	A	G	A83981224G	SEMA3A	NM_006080.3(SEMA3A):c.1652+97T>C	noncoding	Benign
7	83981410	C	G	C83981410G	SEMA3A	NM_006080.3(SEMA3A):c.1563G>C:p.Gly521=	coding	Benign
7	83985304	T	G	T83985304G	SEMA3A	NM_006080.3(SEMA3A):c.1494+132A>C	noncoding	Benign
7	83985404	G	A	G83985404A	SEMA3A	NM_006080.3(SEMA3A):c.1494+32C>T	noncoding	Benign
7	84001712	A	G	A84001712G	SEMA3A	NM_006080.3(SEMA3A):c.1452+243T>C	noncoding	Benign
7	84002060	T	C	T84002060C	SEMA3A	NM_006080.3(SEMA3A):c.1361-14A>G	noncoding	Benign
7	84002074	C	G	C84002074G	SEMA3A	NM_006080.3(SEMA3A):c.1361-28G>C	noncoding	Benign
7	84002201	T	C	T84002201C	SEMA3A	NM_006080.3(SEMA3A):c.1361-155A>G	noncoding	Benign
7	84002231	G	A	G84002231A	SEMA3A	NM_006080.3(SEMA3A):c.1361-185C>T	noncoding	Benign
7	84002272	T	C	T84002272C	SEMA3A	NM_006080.3(SEMA3A):c.1361-226A>G	noncoding	Benign
7	84002292	T	C	T84002292C	SEMA3A	NM_006080.3(SEMA3A):c.1361-246A>G	noncoding	Benign
7	84002335	T	A	T84002335A	SEMA3A	NM_006080.3(SEMA3A):c.1361-289A>T	noncoding	Benign
7	84005397	A	G	A84005397G	SEMA3A	NM_006080.3(SEMA3A):c.1302T>C:p.Ile434=	coding	Benign
7	84007307	G	C	G84007307C	SEMA3A	NM_006080.3(SEMA3A):c.1140+46C>G	noncoding	Benign
7	84010746	A	C	A84010746C	SEMA3A	NM_006080.3(SEMA3A):c.995+276T>G	noncoding	Benign
7	84010844	G	C	G84010844C	SEMA3A	NM_006080.3(SEMA3A):c.995+178C>G	noncoding	Benign
7	84013926	A	G	A84013926G	SEMA3A	NM_006080.3(SEMA3A):c.810+283T>C	noncoding	Benign
7	84014365	A	T	A84014365T	SEMA3A	NM_006080.3(SEMA3A):c.668-14T>A	noncoding	Benign
7	84014371	G	A	G84014371A	SEMA3A	NM_006080.3(SEMA3A):c.668-20C>T	noncoding	Benign
7	84014662	G	A	G84014662A	SEMA3A	NM_006080.3(SEMA3A):c.668-311C>T	noncoding	Benign
7	84060298	C	T	C84060298T	SEMA3A	NM_006080.3(SEMA3A):c.547+167G>A	noncoding	Benign
7	84110266	C	G	C84110266G	SEMA3A	NM_006080.3(SEMA3A):c.453+204G>C	noncoding	Benign
7	84110322	A	T	A84110322T	SEMA3A	NM_006080.3(SEMA3A):c.453+148T>A	noncoding	Benign
7	84110446	T	C	T84110446C	SEMA3A	NM_006080.3(SEMA3A):c.453+24A>G	noncoding	Benign
7	84110699	T	C	T84110699C	SEMA3A	NM_006080.3(SEMA3A):c.334-110A>G	noncoding	Benign
7	84110714	C	T	C84110714T	SEMA3A	NM_006080.3(SEMA3A):c.334-125G>A	noncoding	Benign
7	84110776	T	G	T84110776G	SEMA3A	NM_006080.3(SEMA3A):c.334-187A>C	noncoding	Benign
7	84129375	C	T	C84129375T	SEMA3A	NM_006080.3(SEMA3A):c.271-190G>A	noncoding	Benign
7	84134797	T	C	T84134797C	SEMA3A	NM_006080.3(SEMA3A):c.267A>G:p.Gln89=	coding	Benign
7	84134993	C	G	C84134993G	SEMA3A	NM_006080.3(SEMA3A):c.113-42G>C	noncoding	Benign
7	84194412	A	G	A84194412G	SEMA3A	NM_006080.3(SEMA3A):c.112+63T>C	noncoding	Benign
7	84194423	G	C	G84194423C	SEMA3A	NM_006080.3(SEMA3A):c.112+52C>G	noncoding	Benign
7	84194892	A	C	A84194892C	SEMA3A	Single_allele	noncoding	Benign
7	84195126	C	T	C84195126T	SEMA3A	Single_allele	noncoding	Benign
7	84195208	C	T	C84195208T	SEMA3A	Single_allele	noncoding	Benign
7	84195246	C	A	C84195246A	SEMA3A	Single_allele	noncoding	Benign
7	85097924	A	G	A85097924G	SEMA3D	NM_001384900.1(SEMA3D):c.193T>C:p.Ser65Pro	coding	Benign
7	87402374	A	G	A87402374G	ABCB4	NM_000443.4(ABCB4):c.3634-72T>C	noncoding	Benign
7	87402493	A	G	A87402493G	ABCB4	NM_000443.4(ABCB4):c.3634-191T>C	noncoding	Benign
7	87402530	T	G	T87402530G	ABCB4	NM_000443.4(ABCB4):c.3634-228A>C	noncoding	Benign
7	87402935	G	T	G87402935T	ABCB4	NM_000443.4(ABCB4):c.3633+200C>A	noncoding	Benign
7	87406789	G	A	G87406789A	ABCB4	NM_000443.4(ABCB4):c.3280-295C>T	noncoding	Benign
7	87407842	G	C	G87407842C	ABCB4	NM_000443.4(ABCB4):c.3279+195C>G	noncoding	Benign
7	87408353	G	A	G87408353A	ABCB4	NM_000443.4(ABCB4):c.3082-119C>T	noncoding	Benign
7	87409546	C	A	C87409546A	ABCB4	NM_000443.4(ABCB4):c.2925-154G>T	noncoding	Benign
7	87411828	A	T	A87411828T	ABCB4	NM_000443.4(ABCB4):c.2924+65T>A	noncoding	Benign
7	87411959	G	T	G87411959T	ABCB4	NM_000443.4(ABCB4):c.2858C>A:p.Ala953Asp	coding	Pathogenic
7	87412045	A	G	A87412045G	ABCB4	NM_000443.4(ABCB4):c.2784-12T>C	noncoding	Pathogenic/Likely_pathogenic
7	87412241	A	G	A87412241G	ABCB4	NM_000443.4(ABCB4):c.2784-208T>C	noncoding	Benign
7	87413914	A	G	A87413914G	ABCB4	NM_000443.4(ABCB4):c.2683-197T>C	noncoding	Benign
7	87417154	A	G	A87417154G	ABCB4	NM_000443.4(ABCB4):c.2682+158T>C	noncoding	Benign
7	87417311	C	T	C87417311T	ABCB4	NM_000443.4(ABCB4):c.2682+1G>A	noncoding	Pathogenic
7	87417723	C	T	C87417723T	ABCB4	NM_000443.4(ABCB4):c.2479-208G>A	noncoding	Benign
7	87418272	T	C	T87418272C	ABCB4	NM_000443.4(ABCB4):c.2478+265A>G	noncoding	Benign
7	87418497	T	C	T87418497C	ABCB4	NM_000443.4(ABCB4):c.2478+40A>G	noncoding	Benign
7	87419797	C	A	C87419797A	ABCB4	NM_000443.4(ABCB4):c.2394+201G>T	noncoding	Benign
7	87419803	C	A	C87419803A	ABCB4	NM_000443.4(ABCB4):c.2394+195G>T	noncoding	Benign
7	87423834	A	G	A87423834G	ABCB4	NM_000443.4(ABCB4):c.2211+72T>C	noncoding	Benign
7	87424295	G	C	G87424295C	ABCB4	NM_000443.4(ABCB4):c.2065-243C>G	noncoding	Benign
7	87426610	T	C	T87426610C	ABCB4	NM_000443.4(ABCB4):c.2064+140A>G	noncoding	Benign
7	87426619	T	C	T87426619C	ABCB4	NM_000443.4(ABCB4):c.2064+131A>G	noncoding	Benign
7	87426695	T	C	T87426695C	ABCB4	NM_000443.4(ABCB4):c.2064+55A>G	noncoding	Benign
7	87431126	C	T	C87431126T	ABCB4	NM_000443.4(ABCB4):c.1893+278G>A	noncoding	Benign
7	87431404	C	G	C87431404G	ABCB4	NM_000443.4(ABCB4):c.1893G>C:p.Gln631His	coding	Pathogenic/Likely_pathogenic
7	87431553	G	A	G87431553A	ABCB4	NM_000443.4(ABCB4):c.1744C>T:p.Arg582Trp	coding	Pathogenic
7	87440035	T	G	T87440035G	ABCB4	NM_000443.4(ABCB4):c.1560+164A>C	noncoding	Benign
7	87440442	T	C	T87440442C	ABCB4	NM_000443.4(ABCB4):c.1357-40A>G	noncoding	Benign
7	87440564	T	C	T87440564C	ABCB4	NM_000443.4(ABCB4):c.1357-162A>G	noncoding	Benign
7	87443189	C	A	C87443189A	ABCB4	NM_000443.4(ABCB4):c.1356+130G>T	noncoding	Benign
7	87443514	T	C	T87443514C	ABCB4	NM_000443.4(ABCB4):c.1231-70A>G	noncoding	Benign
7	87445103	T	C	T87445103C	ABCB4	NM_000443.4(ABCB4):c.1006-128A>G	noncoding	Benign
7	87446828	C	T	C87446828T	ABCB4	NM_000443.4(ABCB4):c.1005+206G>A	noncoding	Benign
7	87447055	A	C	A87447055C	ABCB4	NM_000443.4(ABCB4):c.984T>G:p.Tyr328Ter	coding	Pathogenic
7	87447201	G	A	G87447201A	ABCB4	NM_000443.4(ABCB4):c.838C>T:p.Gln280Ter	coding	Pathogenic
7	87447271	C	A	C87447271A	ABCB4	NM_000443.4(ABCB4):c.834-66G>T	noncoding	Benign
7	87449753	T	C	T87449753C	ABCB4	NM_000443.4(ABCB4):c.833+215A>G	noncoding	Benign
7	87449787	T	A	T87449787A	ABCB4	NM_000443.4(ABCB4):c.833+181A>T	noncoding	Benign
7	87450286	G	C	G87450286C	ABCB4	NM_000443.4(ABCB4):c.709-194C>G	noncoding	Benign
7	87451382	T	C	T87451382C	ABCB4	NM_000443.4(ABCB4):c.708+241A>G	noncoding	Benign
7	87451954	C	T	C87451954T	ABCB4	NM_000443.4(ABCB4):c.537-160G>A	noncoding	Benign
7	87452033	A	G	A87452033G	ABCB4	NM_000443.4(ABCB4):c.537-239T>C	noncoding	Benign
7	87452726	A	G	A87452726G	ABCB4	NM_000443.4(ABCB4):c.536+218T>C	noncoding	Benign
7	87452933	A	G	A87452933G	ABCB4	NM_000443.4(ABCB4):c.536+11T>C	noncoding	Benign/Likely_benign
7	87452954	G	A	G87452954A	ABCB4	NM_000443.4(ABCB4):c.526C>T:p.Arg176Trp	coding	Pathogenic/Likely_pathogenic
7	87454261	T	G	T87454261G	ABCB4	NM_000443.4(ABCB4):c.344+274A>C	noncoding	Benign
7	87454422	T	C	T87454422C	ABCB4	NM_000443.4(ABCB4):c.344+113A>G	noncoding	Benign
7	87454653	G	A	G87454653A	ABCB4	NM_000443.4(ABCB4):c.287-61C>T	noncoding	Benign
7	87462510	T	C	T87462510C	ABCB4	NM_000443.4(ABCB4):c.286+248A>G	noncoding	Benign
7	87462628	A	G	A87462628G	ABCB4	NM_000443.4(ABCB4):c.286+130T>C	noncoding	Benign
7	87463060	A	G	A87463060G	ABCB4	NM_000443.4(ABCB4):c.136-152T>C	noncoding	Benign
7	87463222	G	A	G87463222A	ABCB4	NM_000443.4(ABCB4):c.136-314C>T	noncoding	Benign
7	87472935	C	T	C87472935T	ABCB4	NM_000443.4(ABCB4):c.81-260G>A	noncoding	Benign
7	87475843	A	G	A87475843G	ABCB4	Single_allele	noncoding	Benign
7	87509329	A	G	A87509329G	ABCB1	NM_001348946.2(ABCB1):c.3435T>C:p.Ile1145=	coding	Benign
7	87935182	C	G	C87935182G	ADAM22	NM_001324418.2(ADAM22):c.242C>G:p.Pro81Arg	coding	Benign
7	88145412	T	C	T88145412C	ADAM22	NM_001324418.2(ADAM22):c.1393-3T>C	noncoding	Benign
7	88181640	T	C	T88181640C	ADAM22	NM_001324418.2(ADAM22):c.2596+35T>C	noncoding	Benign
7	88193225	C	T	C88193225T	ADAM22	NM_001324418.2(ADAM22):c.2860C>T:p.Arg954Ter	coding	Pathogenic
7	88206370	A	G	A88206370G	SRI	NM_003130.4(SRI):c.*108T>C	noncoding	Benign
7	88206698	G	A	G88206698A	SRI	NM_003130.4(SRI):c.571-194C>T	noncoding	Benign
7	88210213	A	G	A88210213G	SRI	NM_003130.4(SRI):c.250-83T>C	noncoding	Benign
7	88210375	T	C	T88210375C	SRI	NM_003130.4(SRI):c.250-245A>G	noncoding	Benign
7	88210948	T	C	T88210948C	SRI	NM_003130.4(SRI):c.206-23A>G	noncoding	Benign
7	88217196	T	C	T88217196C	SRI	NM_003130.4(SRI):c.136-5A>G	noncoding	Benign
7	88217341	T	G	T88217341G	SRI	NM_003130.4(SRI):c.136-150A>C	noncoding	Benign
7	88220257	C	G	C88220257G	SRI	NM_198901.2(SRI):c.7-1315G>C	noncoding	Benign
7	88220264	C	T	C88220264T	SRI	NM_198901.2(SRI):c.7-1322G>A	noncoding	Benign
7	88220388	A	G	A88220388G	SRI	NM_198901.2(SRI):c.7-1446T>C	noncoding	Benign
7	88227200	A	G	A88227200G	SRI	Single_allele	noncoding	Benign
7	90271725	A	C	A90271725C	CFAP69	NM_001039706.3(CFAP69):c.682+50A>C	noncoding	Benign
7	90282987	G	A	G90282987A	CFAP69	NM_001039706.3(CFAP69):c.1468G>A:p.Val490Met	coding	Benign
7	90297877	T	A	T90297877A	CFAP69	NM_001039706.3(CFAP69):c.1857+47T>A	noncoding	Benign
7	90309274	C	G	C90309274G	CFAP69	NM_001039706.3(CFAP69):c.2562C>G:p.Ser854Arg	coding	Benign
7	90309366	C	T	C90309366T	CFAP69	NM_001039706.3(CFAP69):c.2654C>T:p.Thr885Met	coding	Benign
7	91940870	G	T	G91940870T	AKAP9	NM_005751.5(AKAP9):c.-230G>T	noncoding	Benign
7	91940971	G	A	G91940971A	AKAP9	NM_005751.5(AKAP9):c.-129G>A	noncoding	Benign
7	91940976	G	C	G91940976C	AKAP9	NM_005751.5(AKAP9):c.-124G>C	noncoding	Benign/Likely_benign
7	91992003	A	G	A91992003G	AKAP9	NM_005751.5(AKAP9):c.352-155A>G	noncoding	Benign
7	91992971	G	A	G91992971A	AKAP9	NM_005751.5(AKAP9):c.492G>A:p.Leu164=	coding	Benign/Likely_benign
7	91994761	G	A	G91994761A	AKAP9	NM_005751.5(AKAP9):c.717G>A:p.Gln239=	coding	Benign/Likely_benign
7	91995683	C	T	C91995683T	AKAP9	NM_005751.5(AKAP9):c.813C>T:p.Leu271=	coding	Benign/Likely_benign
7	92014101	T	C	T92014101C	AKAP9	NM_005751.5(AKAP9):c.3533-148T>C	noncoding	Benign
7	92016188	A	G	A92016188G	AKAP9	NM_005751.5(AKAP9):c.3672A>G:p.Ala1224=	coding	Benign
7	92016479	G	T	G92016479T	AKAP9	NM_005751.5(AKAP9):c.3751+212G>T	noncoding	Benign
7	92022069	T	A	T92022069A	AKAP9	NM_005751.5(AKAP9):c.3838-169T>A	noncoding	Benign
7	92022366	A	G	A92022366G	AKAP9	NM_005751.5(AKAP9):c.3952+14A>G	noncoding	Benign/Likely_benign
7	92023004	G	A	G92023004A	AKAP9	NM_005751.5(AKAP9):c.4143G>A:p.Pro1381=	coding	Benign/Likely_benign
7	92023027	G	C	G92023027C	AKAP9	NM_005751.5(AKAP9):c.4148+18G>C	noncoding	Benign/Likely_benign
7	92030207	T	C	T92030207C	AKAP9	NM_005751.5(AKAP9):c.4245+216T>C	noncoding	Benign
7	92031506	A	T	A92031506T	AKAP9	NM_005751.5(AKAP9):c.4246-6A>T	noncoding	Benign/Likely_benign
7	92042831	T	C	T92042831C	AKAP9	NM_005751.5(AKAP9):c.5162+60T>C	noncoding	Benign
7	92045220	G	C	G92045220C	AKAP9	NM_005751.5(AKAP9):c.5368+7G>C	noncoding	Benign
7	92052720	T	G	T92052720G	AKAP9	NM_005751.5(AKAP9):c.5369-6T>G	noncoding	Benign
7	92060988	T	C	T92060988C	AKAP9	NM_005751.5(AKAP9):c.5602-272T>C	noncoding	Benign
7	92066403	A	G	A92066403G	AKAP9	NM_005751.5(AKAP9):c.6211-24A>G	noncoding	Benign
7	92066565	T	C	T92066565C	AKAP9	NM_005751.5(AKAP9):c.6330+19T>C	noncoding	Benign/Likely_benign
7	92070885	A	T	A92070885T	AKAP9	NM_005751.5(AKAP9):c.6508-20A>T	noncoding	Benign
7	92071244	A	G	A92071244G	AKAP9	NM_005751.5(AKAP9):c.6612+235A>G	noncoding	Benign
7	92077096	C	T	C92077096T	AKAP9	NM_005751.5(AKAP9):c.6765+89C>T	noncoding	Benign
7	92077175	A	T	A92077175T	AKAP9	NM_005751.5(AKAP9):c.6765+168A>T	noncoding	Benign
7	92077250	G	A	G92077250A	AKAP9	NM_005751.5(AKAP9):c.6765+243G>A	noncoding	Benign
7	92077848	G	A	G92077848A	AKAP9	NM_005751.5(AKAP9):c.6918G>A:p.Gln2306=	coding	Benign
7	92079156	G	A	G92079156A	AKAP9	NM_005751.5(AKAP9):c.7023G>A:p.Val2341=	coding	Benign/Likely_benign
7	92079341	A	G	A92079341G	AKAP9	NM_005751.5(AKAP9):c.7208A>G:p.Glu2403Gly	coding	Benign/Likely_benign
7	92079816	T	C	T92079816C	AKAP9	NM_005751.5(AKAP9):c.7683T>C:p.Leu2561=	coding	Benign/Likely_benign
7	92082510	G	A	G92082510A	AKAP9	NM_005751.5(AKAP9):c.8020-12G>A	noncoding	Benign
7	92084566	C	G	C92084566G	AKAP9	NM_005751.5(AKAP9):c.8647-74C>G	noncoding	Benign
7	92086208	C	T	C92086208T	AKAP9	NM_005751.5(AKAP9):c.9025-20C>T	noncoding	Benign
7	92086327	C	T	C92086327T	AKAP9	NM_005751.5(AKAP9):c.9124C>T:p.Leu3042=	coding	Benign/Likely_benign
7	92089528	A	G	A92089528G	AKAP9	NM_005751.5(AKAP9):c.9357A>G:p.Gln3119=	coding	Benign
7	92089540	T	C	T92089540C	AKAP9	NM_005751.5(AKAP9):c.9358+11T>C	noncoding	Benign
7	92089560	A	G	A92089560G	AKAP9	NM_005751.5(AKAP9):c.9358+31A>G	noncoding	Benign
7	92095190	C	T	C92095190T	AKAP9	NM_005751.5(AKAP9):c.9729+17C>T	noncoding	Benign/Likely_benign
7	92099609	C	T	C92099609T	AKAP9	NM_005751.5(AKAP9):c.10714-78C>T	noncoding	Benign
7	92099860	T	C	T92099860C	AKAP9	NM_005751.5(AKAP9):c.10887T>C:p.Gly3629=	coding	Benign/Likely_benign
7	92102581	T	G	T92102581G	AKAP9	NM_005751.5(AKAP9):c.11098-13T>G	noncoding	Benign
7	92102794	G	A	G92102794A	AKAP9	NM_005751.5(AKAP9):c.11298G>A:p.Arg3766=	coding	Benign/Likely_benign
7	92102803	C	T	C92102803T	AKAP9	NM_005751.5(AKAP9):c.11307C>T:p.Val3769=	coding	Benign
7	92105667	A	T	A92105667T	AKAP9	NM_005751.5(AKAP9):c.11331-11A>T	noncoding	Benign/Likely_benign
7	92105793	T	A	T92105793A	AKAP9	NM_005751.5(AKAP9):c.11416+30T>A	noncoding	Benign
7	92113414	C	G	C92113414G	CYP51A1	NM_000786.4(CYP51A1):c.*251G>C	noncoding	Benign
7	92113704	A	T	A92113704T	CYP51A1	NM_000786.4(CYP51A1):c.1491T>A:p.Pro497=	coding	Benign
7	92117086	G	A	G92117086A	CYP51A1	NM_000786.4(CYP51A1):c.1309C>T:p.Pro437Ser	coding	Benign
7	92117413	T	C	T92117413C	CYP51A1	NM_000786.4(CYP51A1):c.1183-201A>G	noncoding	Benign
7	92118555	T	C	T92118555C	CYP51A1	NM_000786.4(CYP51A1):c.1147A>G:p.Ile383Val	coding	Benign
7	92123376	C	A	C92123376A	CYP51A1	NM_000786.4(CYP51A1):c.891-61G>T	noncoding	Benign
7	92126444	G	C	G92126444C	CYP51A1	NM_000786.4(CYP51A1):c.596-17C>G	noncoding	Benign
7	92127439	T	C	T92127439C	CYP51A1	NM_000786.4(CYP51A1):c.595+66A>G	noncoding	Benign
7	92128797	A	G	A92128797G	CYP51A1	NM_000786.4(CYP51A1):c.468+83T>C	noncoding	Benign
7	92129071	G	A	G92129071A	CYP51A1	NM_000786.4(CYP51A1):c.292-15C>T	noncoding	Benign
7	92129108	C	A	C92129108A	CYP51A1	NM_000786.4(CYP51A1):c.292-52G>T	noncoding	Benign
7	92131568	G	A	G92131568A	CYP51A1	NM_000786.4(CYP51A1):c.291+206C>T	noncoding	Benign
7	92131650	C	T	C92131650T	CYP51A1	NM_000786.4(CYP51A1):c.291+124G>A	noncoding	Benign
7	92131919	A	G	A92131919G	CYP51A1	NM_000786.4(CYP51A1):c.193-47T>C	noncoding	Benign
7	92134788	C	T	C92134788T	CYP51A1	NM_001146152.2(CYP51A1):c.-246G>A	noncoding	Benign
7	92134814	C	A	C92134814A	CYP51A1	NR_122109.1(CYP51A1-AS1):n.252C>A	noncoding	Benign
7	92201336	T	A	T92201336A	KRIT1	NM_194454.3(KRIT1):c.2113A>T:p.Lys705Ter	coding	Pathogenic
7	92201364	A	T	A92201364T	KRIT1	NM_194454.3(KRIT1):c.2085T>A:p.Thr695=	coding	Benign
7	92201385	C	T	C92201385T	KRIT1	NM_194454.3(KRIT1):c.2064G>A:p.Trp688Ter	coding	Pathogenic
7	92201400	A	C	A92201400C	KRIT1	NM_194454.3(KRIT1):c.2049T>G:p.Tyr683Ter	coding	Pathogenic
7	92213315	A	T	A92213315T	KRIT1	NM_194454.3(KRIT1):c.1905T>A:p.Tyr635Ter	coding	Pathogenic
7	92213341	G	A	G92213341A	KRIT1	NM_194454.3(KRIT1):c.1879C>T:p.Gln627Ter	coding	Pathogenic
7	92213413	C	G	C92213413G	KRIT1	NM_194454.3(KRIT1):c.1819-12G>C	noncoding	Benign/Likely_benign
7	92213746	T	C	T92213746C	KRIT1	NM_194454.3(KRIT1):c.1818+146A>G	noncoding	Benign
7	92213919	C	T	C92213919T	KRIT1	NM_194454.3(KRIT1):c.1791G>A:p.Trp597Ter	coding	Pathogenic
7	92213928	T	C	T92213928C	KRIT1	NM_194454.3(KRIT1):c.1782A>G:p.Ala594=	coding	Benign/Likely_benign
7	92214636	T	A	T92214636A	KRIT1	NM_194454.3(KRIT1):c.1705A>T:p.Lys569Ter	coding	Pathogenic
7	92214677	G	A	G92214677A	KRIT1	NM_194454.3(KRIT1):c.1664C>T:p.Ala555Val	coding	Pathogenic
7	92214725	A	C	A92214725C	KRIT1	NM_194454.3(KRIT1):c.1616T>G:p.Leu539Ter	coding	Pathogenic
7	92214778	C	T	C92214778T	KRIT1	NM_194454.3(KRIT1):c.1564-1G>A	coding	Pathogenic
7	92215093	T	A	T92215093A	KRIT1	NM_194454.3(KRIT1):c.1564-316A>T	noncoding	Benign
7	92222021	G	A	G92222021A	KRIT1	NM_194454.3(KRIT1):c.1444C>T:p.Gln482Ter	coding	Pathogenic
7	92222641	C	T	C92222641T	KRIT1	NM_194454.3(KRIT1):c.1411+181G>A	noncoding	Benign
7	92222861	G	A	G92222861A	KRIT1	NM_194454.3(KRIT1):c.1372C>T:p.Gln458Ter	coding	Pathogenic/Likely_pathogenic
7	92222897	G	A	G92222897A	KRIT1	NM_194454.3(KRIT1):c.1336C>T:p.Gln446Ter	coding	Pathogenic
7	92222900	G	A	G92222900A	KRIT1	NM_194454.3(KRIT1):c.1333C>T:p.Gln445Ter	coding	Pathogenic
7	92225762	C	T	C92225762T	KRIT1	NM_194454.3(KRIT1):c.1212G>A:p.Trp404Ter	coding	Pathogenic
7	92225763	C	T	C92225763T	KRIT1	NM_194454.3(KRIT1):c.1211G>A:p.Trp404Ter	coding	Pathogenic
7	92225812	G	A	G92225812A	KRIT1	NM_194454.3(KRIT1):c.1162C>T:p.Gln388Ter	coding	Pathogenic
7	92225815	G	A	G92225815A	KRIT1	NM_194454.3(KRIT1):c.1159C>T:p.Gln387Ter	coding	Pathogenic
7	92226645	T	A	T92226645A	KRIT1	NM_194454.3(KRIT1):c.1027A>T:p.Lys343Ter	coding	Pathogenic
7	92226680	T	C	T92226680C	KRIT1	NM_194454.3(KRIT1):c.992A>G:p.Tyr331Cys	coding	Pathogenic
7	92234386	G	C	G92234386C	KRIT1	NM_194454.3(KRIT1):c.989+63C>G	noncoding	Benign
7	92234588	G	A	G92234588A	KRIT1	NM_194454.3(KRIT1):c.850C>T:p.Arg284Ter	coding	Pathogenic/Likely_pathogenic
7	92235016	T	C	T92235016C	KRIT1	NM_194454.3(KRIT1):c.730-93A>G	noncoding	Benign
7	92235425	G	T	G92235425T	KRIT1	NM_194454.3(KRIT1):c.707C>A:p.Ser236Ter	coding	Pathogenic
7	92235536	G	C	G92235536C	KRIT1	NM_194454.3(KRIT1):c.596C>G:p.Ser199Ter	coding	Pathogenic
7	92235839	A	G	A92235839G	KRIT1	NM_194454.3(KRIT1):c.486-193T>C	noncoding	Benign
7	92236348	C	G	C92236348G	KRIT1	NM_194454.3(KRIT1):c.485+65G>C	noncoding	Benign
7	92236454	A	G	A92236454G	KRIT1	NM_194454.3(KRIT1):c.444T>C:p.His148=	coding	Benign/Likely_benign
7	92236516	C	A	C92236516A	KRIT1	NM_194454.3(KRIT1):c.382G>T:p.Gly128Ter	coding	Pathogenic
7	92241005	G	A	G92241005A	KRIT1	NM_194454.3(KRIT1):c.250C>T:p.Gln84Ter	coding	Pathogenic
7	92241049	A	T	A92241049T	KRIT1	NM_194454.3(KRIT1):c.206T>A:p.Leu69Ter	coding	Pathogenic
7	92242033	C	T	C92242033T	KRIT1	NM_194454.3(KRIT1):c.102+1G>A	noncoding	Pathogenic
7	92447335	C	A	C92447335A	GATAD1	Single_allele	noncoding	Benign
7	92448160	G	A	G92448160A	GATAD1	NM_021167.5(GATAD1):c.249+182G>A	noncoding	Benign
7	92448177	A	G	A92448177G	GATAD1	NM_021167.5(GATAD1):c.249+199A>G	noncoding	Benign
7	92449079	T	G	T92449079G	GATAD1	NM_021167.5(GATAD1):c.375+202T>G	noncoding	Benign
7	92489180	G	C	G92489180C	PEX1	NM_000466.3(PEX1):c.3767+113C>G	noncoding	Benign
7	92489782	G	A	G92489782A	GATAD1;PEX1	NM_000466.3(PEX1):c.3568C>T:p.Gln1190Ter	coding	Pathogenic
7	92489824	C	A	C92489824A	PEX1	NM_000466.3(PEX1):c.3526G>T:p.Val1176Leu	coding	Benign
7	92489900	A	T	A92489900T	PEX1	NM_000466.3(PEX1):c.3450T>A:p.Cys1150Ter	coding	Pathogenic
7	92489927	T	C	T92489927C	PEX1	NM_000466.3(PEX1):c.3439-16A>G	noncoding	Benign
7	92491409	C	A	C92491409A	PEX1	NM_000466.3(PEX1):c.3301G>T:p.Glu1101Ter	coding	Pathogenic
7	92491545	T	A	T92491545A	PEX1	NM_000466.3(PEX1):c.3208-43A>T	noncoding	Benign
7	92492952	C	T	C92492952T	PEX1	NM_000466.3(PEX1):c.3207+1G>A	noncoding	Pathogenic
7	92493123	G	A	G92493123A	PEX1	NM_000466.3(PEX1):c.3037C>T:p.Arg1013Cys	coding	Pathogenic
7	92493277	A	G	A92493277G	PEX1	NM_000466.3(PEX1):c.3031-148T>C	noncoding	Benign
7	92497021	C	T	C92497021T	PEX1	NM_000466.3(PEX1):c.2719-244G>A	noncoding	Benign
7	92499521	G	T	G92499521T	PEX1	NM_000466.3(PEX1):c.2718+183C>A	noncoding	Benign
7	92499848	A	G	A92499848G	PEX1	NM_000466.3(PEX1):c.2584-10T>C	noncoding	Benign/Likely_benign
7	92500083	T	A	T92500083A	PEX1	NM_000466.3(PEX1):c.2584-245A>T	noncoding	Benign
7	92501574	C	T	C92501574T	PEX1	NM_000466.3(PEX1):c.2516G>A:p.Trp839Ter	coding	Pathogenic
7	92501715	A	G	A92501715G	PEX1	NM_000466.3(PEX1):c.2417-42T>C	noncoding	Benign
7	92502902	T	C	T92502902C	PEX1	NM_000466.3(PEX1):c.2226+139A>G	noncoding	Benign
7	92503105	A	T	A92503105T	PEX1	NM_000466.3(PEX1):c.2162T>A:p.Leu721Ter	coding	Pathogenic
7	92504840	G	A	G92504840A	PEX1	NM_000466.3(PEX1):c.1963C>T:p.Gln655Ter	coding	Pathogenic
7	92506246	A	G	A92506246G	PEX1	NM_000466.3(PEX1):c.1900+2T>C	noncoding	Pathogenic/Likely_pathogenic
7	92506251	G	A	G92506251A	PEX1	NM_000466.3(PEX1):c.1897C>T:p.Arg633Ter	coding	Pathogenic/Likely_pathogenic
7	92506356	T	A	T92506356A	PEX1	NM_000466.3(PEX1):c.1804-12A>T	noncoding	Benign
7	92506488	T	A	T92506488A	PEX1	NM_000466.3(PEX1):c.1804-144A>T	noncoding	Benign
7	92506759	T	C	T92506759C	PEX1	NM_000466.3(PEX1):c.1803+235A>G	noncoding	Benign
7	92507002	C	A	C92507002A	PEX1	NM_000466.3(PEX1):c.1795G>T:p.Gly599Ter	coding	Pathogenic
7	92507125	C	A	C92507125A	PEX1	NM_000466.3(PEX1):c.1672G>T:p.Gly558Ter	coding	Pathogenic
7	92509110	A	G	A92509110G	PEX1	NM_000466.3(PEX1):c.1670+219T>C	noncoding	Benign
7	92509431	T	C	T92509431C	PEX1	NM_000466.3(PEX1):c.1588-20A>G	noncoding	Benign
7	92511083	C	T	C92511083T	PEX1	NM_000466.3(PEX1):c.1484-36G>A	noncoding	Benign
7	92511607	C	A	C92511607A	PEX1	NM_000466.3(PEX1):c.1456G>T:p.Glu486Ter	coding	Pathogenic
7	92511652	G	A	G92511652A	PEX1	NM_000466.3(PEX1):c.1411C>T:p.Gln471Ter	coding	Pathogenic
7	92512039	T	G	T92512039G	PEX1	NM_000466.3(PEX1):c.1360-336A>C	noncoding	Benign
7	92513693	G	T	G92513693T	PEX1	NM_000466.3(PEX1):c.1359+155C>A	noncoding	Benign
7	92513865	G	A	G92513865A	PEX1	NM_000466.3(PEX1):c.1342C>T:p.Gln448Ter	coding	Pathogenic
7	92514246	C	T	C92514246T	PEX1	NM_000466.3(PEX1):c.1240-279G>A	noncoding	Benign
7	92515518	T	C	T92515518C	PEX1	NM_000466.3(PEX1):c.1240-1551A>G	noncoding	Pathogenic
7	92517560	G	A	G92517560A	PEX1	NM_000466.3(PEX1):c.955C>T:p.Gln319Ter	coding	Pathogenic
7	92517908	C	A	C92517908A	PEX1	NM_000466.3(PEX1):c.607G>T:p.Gly203Ter	coding	Pathogenic
7	92528402	C	A	C92528402A	PEX1	NM_000466.3(PEX1):c.34G>T:p.Gly12Ter	coding	Pathogenic
7	92528840	G	A	G92528840A	RBM48;PEX1	NM_032120.4(RBM48):c.27G>A:p.Gly9=	coding	Benign/Likely_benign
7	92529026	C	G	C92529026G	RBM48	NM_032120.4(RBM48):c.111+102C>G	noncoding	Benign
7	92529684	A	C	A92529684C	RBM48	NM_032120.4(RBM48):c.302+18A>C	noncoding	Benign
7	92532521	A	C	A92532521C	RBM48	NM_032120.4(RBM48):c.420A>C:p.Ala140=	coding	Benign
7	92532728	T	C	T92532728C	RBM48	NM_032120.4(RBM48):c.448+179T>C	noncoding	Benign
7	92534541	G	A	G92534541A	RBM48	NM_032120.4(RBM48):c.588G>A:p.Pro196=	coding	Benign
7	92535004	C	T	C92535004T	RBM48	NM_032120.4(RBM48):c.1017+34C>T	noncoding	Benign
7	92536726	G	C	G92536726C	RBM48	NM_032120.4(RBM48):c.1018-125G>C	noncoding	Benign
7	92536880	G	A	G92536880A	RBM48	NM_032120.4(RBM48):c.1047G>A:p.Glu349=	coding	Benign
7	92615108	C	T	C92615108T	CDK6	NM_001145306.2(CDK6):c.*32G>A	noncoding	Benign
7	92617798	C	T	C92617798T	CDK6	NM_001145306.2(CDK6):c.834+274G>A	noncoding	Benign
7	92618019	A	G	A92618019G	CDK6	NM_001145306.2(CDK6):c.834+53T>C	noncoding	Benign
7	92618225	A	G	A92618225G	CDK6	NM_001145306.2(CDK6):c.699-18T>C	noncoding	Benign
7	92622889	C	G	C92622889G	CDK6	NM_001145306.2(CDK6):c.698+147G>C	noncoding	Benign
7	92671273	G	A	G92671273A	CDK6	NM_001145306.2(CDK6):c.647+153C>T	noncoding	Benign
7	92671549	C	T	C92671549T	CDK6	NM_001145306.2(CDK6):c.538-14G>A	noncoding	Benign
7	92671726	C	T	C92671726T	CDK6	NM_001145306.2(CDK6):c.538-191G>A	noncoding	Benign
7	92725369	T	A	T92725369A	CDK6	NM_001145306.2(CDK6):c.537+257A>T	noncoding	Benign
7	92725911	C	T	C92725911T	CDK6	NM_001145306.2(CDK6):c.370-118G>A	noncoding	Benign
7	92774545	C	T	C92774545T	CDK6	NM_001145306.2(CDK6):c.369+151G>A	noncoding	Benign
7	93101996	C	T	C93101996T	SAMD9	NM_017654.4(SAMD9):c.4102G>A:p.Glu1368Lys	coding	Benign/Likely_benign
7	93102273	A	G	A93102273G	SAMD9	NM_017654.4(SAMD9):c.3825T>C:p.Phe1275=	coding	Benign
7	93102692	C	G	C93102692G	SAMD9	NM_017654.4(SAMD9):c.3406G>C:p.Glu1136Gln	coding	Pathogenic
7	93102903	T	C	T93102903C	SAMD9	NM_017654.4(SAMD9):c.3195A>G:p.Glu1065=	coding	Benign
7	93102927	T	C	T93102927C	SAMD9	NM_017654.4(SAMD9):c.3171A>G:p.Ala1057=	coding	Benign
7	93103456	T	C	T93103456C	SAMD9	NM_017654.4(SAMD9):c.2642A>G:p.Asp881Gly	coding	Benign
7	93103627	C	T	C93103627T	SAMD9	NM_017654.4(SAMD9):c.2471G>A:p.Arg824Gln	coding	Pathogenic
7	93104044	C	T	C93104044T	SAMD9	NM_017654.4(SAMD9):c.2054G>A:p.Arg685Gln	coding	Pathogenic
7	93104072	T	C	T93104072C	SAMD9	NM_017654.4(SAMD9):c.2026A>G:p.Lys676Glu	coding	Pathogenic
7	93104286	T	C	T93104286C	SAMD9	NM_017654.4(SAMD9):c.1812A>G:p.Gln604=	coding	Benign
7	93104453	C	A	C93104453A	SAMD9	NM_017654.4(SAMD9):c.1645G>T:p.Val549Leu	coding	Benign
7	93104662	G	A	G93104662A	SAMD9	NM_017654.4(SAMD9):c.1436C>T:p.Thr479Met	coding	Benign
7	93104738	C	T	C93104738T	SAMD9	NM_017654.4(SAMD9):c.1360G>A:p.Ala454Thr	coding	Benign/Likely_benign
7	93104752	T	C	T93104752C	SAMD9	NM_017654.4(SAMD9):c.1346A>G:p.Asn449Ser	coding	Benign
7	93105138	A	G	A93105138G	SAMD9	NM_017654.4(SAMD9):c.960T>C:p.Tyr320=	coding	Benign
7	93105670	A	G	A93105670G	SAMD9	NM_017654.4(SAMD9):c.428T>C:p.Ile143Thr	coding	Benign
7	93105875	G	A	G93105875A	SAMD9	NM_017654.4(SAMD9):c.223C>T:p.Arg75Trp	coding	Benign
7	93131425	T	G	T93131425G	SAMD9L	NM_152703.5(SAMD9L):c.4547A>C:p.Asn1516Thr	coding	Benign
7	93131437	A	G	A93131437G	SAMD9L	NM_152703.5(SAMD9L):c.4535T>C:p.Val1512Ala	coding	Pathogenic
7	93131438	C	T	C93131438T	SAMD9L	NM_152703.5(SAMD9L):c.4534G>A:p.Val1512Met	coding	Pathogenic
7	93131589	T	G	T93131589G	SAMD9L	NM_152703.5(SAMD9L):c.4383A>C:p.Gly1461=	coding	Benign/Likely_benign
7	93132130	C	T	C93132130T	SAMD9L	NM_152703.5(SAMD9L):c.3842G>A:p.Arg1281Lys	coding	Pathogenic
7	93132448	T	C	T93132448C	SAMD9L	NM_152703.5(SAMD9L):c.3524A>G:p.Tyr1175Cys	coding	Benign
7	93132562	C	G	C93132562G	SAMD9L	NM_152703.5(SAMD9L):c.3410G>C:p.Gly1137Ala	coding	Benign
7	93133248	G	T	G93133248T	SAMD9L	NM_152703.5(SAMD9L):c.2724C>A:p.Ile908=	coding	Benign
7	93133368	A	G	A93133368G	SAMD9L	NM_152703.5(SAMD9L):c.2604T>C:p.Ala868=	coding	Benign
7	93133473	C	T	C93133473T	SAMD9L	NM_152703.5(SAMD9L):c.2499G>A:p.Leu833=	coding	Benign/Likely_benign
7	93133656	A	C	A93133656C	SAMD9L	NM_152703.5(SAMD9L):c.2316T>G:p.Thr772=	coding	Benign
7	93134388	T	C	T93134388C	SAMD9L	NM_152703.5(SAMD9L):c.1584A>G:p.Leu528=	coding	Benign/Likely_benign
7	93134407	G	A	G93134407A	SAMD9L	NM_152703.5(SAMD9L):c.1565C>T:p.Ala522Val	coding	Benign
7	93134600	C	A	C93134600A	SAMD9L	NM_152703.5(SAMD9L):c.1372G>T:p.Ala458Ser	coding	Benign/Likely_benign
7	93135106	A	G	A93135106G	SAMD9L	NM_152703.5(SAMD9L):c.866T>C:p.Phe289Ser	coding	Benign
7	93135176	C	T	C93135176T	SAMD9L	NM_152703.5(SAMD9L):c.796G>A:p.Val266Ile	coding	Benign
7	93135463	T	C	T93135463C	SAMD9L	NM_152703.5(SAMD9L):c.509A>G:p.Gln170Arg	coding	Benign
7	93135604	G	A	G93135604A	SAMD9L	NM_152703.5(SAMD9L):c.368C>T:p.Pro123Leu	coding	Benign/Likely_benign
7	93135669	C	T	C93135669T	SAMD9L	NM_152703.5(SAMD9L):c.303G>A:p.Gln101=	coding	Benign
7	93146872	C	A	C93146872A	SAMD9L	NM_152703.5(SAMD9L):c.-779+11G>T	noncoding	Benign
7	93334116	G	T	G93334116T	VPS50	NM_017667.4(VPS50):c.1978-1G>T	noncoding	Pathogenic
7	93426338	G	A	G93426338A	CALCR	NM_001742.4(CALCR):c.*18C>T	noncoding	Benign
7	93426441	A	G	A93426441G	CALCR	NM_001742.4(CALCR):c.1340T>C:p.Leu447Pro	coding	Benign
7	93426915	A	G	A93426915G	CALCR	NM_001742.4(CALCR):c.1192-326T>C	noncoding	Benign
7	93434086	G	T	G93434086T	CALCR	NM_001742.4(CALCR):c.1191+167C>A	noncoding	Benign
7	93434510	G	A	G93434510A	CALCR	NM_001742.4(CALCR):c.1150-216C>T	noncoding	Benign
7	93434532	A	T	A93434532T	CALCR	NM_001742.4(CALCR):c.1150-238T>A	noncoding	Benign
7	93435803	G	C	G93435803C	CALCR	NM_001742.4(CALCR):c.1149+149C>G	noncoding	Benign
7	93435814	T	A	T93435814A	CALCR	NM_001742.4(CALCR):c.1149+138A>T	noncoding	Benign
7	93435827	T	A	T93435827A	CALCR	NM_001742.4(CALCR):c.1149+125A>T	noncoding	Benign
7	93435880	T	C	T93435880C	CALCR	NM_001742.4(CALCR):c.1149+72A>G	noncoding	Benign
7	93436441	C	A	C93436441A	CALCR	NM_001742.4(CALCR):c.931-271G>T	noncoding	Benign
7	93443359	G	T	G93443359T	CALCR	NM_001742.4(CALCR):c.802+245C>A	noncoding	Benign
7	93443835	C	G	C93443835G	CALCR	NM_001742.4(CALCR):c.649-78G>C	noncoding	Benign
7	93444060	T	G	T93444060G	CALCR	NM_001742.4(CALCR):c.649-303A>C	noncoding	Benign
7	93460697	G	T	G93460697T	CALCR	NM_001742.4(CALCR):c.648+124C>A	noncoding	Benign
7	93460821	C	T	C93460821T	CALCR	NM_001742.4(CALCR):c.648G>A:p.Pro216=	coding	Benign
7	93461274	T	C	T93461274C	CALCR	NM_001742.4(CALCR):c.522-327A>G	noncoding	Benign
7	93461926	G	A	G93461926A	CALCR	NM_001742.4(CALCR):c.522-979C>T	noncoding	Benign
7	93462173	T	C	T93462173C	CALCR	NM_001742.4(CALCR):c.522-1226A>G	noncoding	Benign
7	93462176	C	T	C93462176T	CALCR	NM_001742.4(CALCR):c.522-1229G>A	noncoding	Benign
7	93462275	T	G	T93462275G	CALCR	NM_001742.4(CALCR):c.522-1328A>C	noncoding	Benign
7	93462276	C	T	C93462276T	CALCR	NM_001742.4(CALCR):c.522-1329G>A	noncoding	Benign
7	93462302	G	A	G93462302A	CALCR	NM_001742.4(CALCR):c.522-1355C>T	noncoding	Benign
7	93462419	G	C	G93462419C	CALCR	NM_001742.4(CALCR):c.522-1472C>G	noncoding	Benign
7	93468662	G	A	G93468662A	CALCR	NM_001742.4(CALCR):c.521+53C>T	noncoding	Benign
7	93468883	A	C	A93468883C	CALCR	NM_001742.4(CALCR):c.430-77T>G	noncoding	Benign
7	93468926	A	G	A93468926G	CALCR	NM_001742.4(CALCR):c.430-120T>C	noncoding	Benign
7	93472109	G	A	G93472109A	CALCR	NM_001742.4(CALCR):c.429+266C>T	noncoding	Benign
7	93472338	A	G	A93472338G	CALCR	NM_001742.4(CALCR):c.429+37T>C	noncoding	Benign
7	93472679	T	C	T93472679C	CALCR	NM_001742.4(CALCR):c.317-192A>G	noncoding	Benign
7	93477232	T	C	T93477232C	CALCR	NM_001742.4(CALCR):c.316+326A>G	noncoding	Benign
7	93477781	A	C	A93477781C	CALCR	NM_001742.4(CALCR):c.206-113T>G	noncoding	Benign
7	93479172	G	A	G93479172A	CALCR	NM_001742.4(CALCR):c.205+182C>T	noncoding	Benign
7	93479771	T	A	T93479771A	CALCR	NM_001742.4(CALCR):c.52-264A>T	noncoding	Benign
7	93486826	G	A	G93486826A	CALCR	NM_001742.4(CALCR):c.51+105C>T	noncoding	Benign
7	93486987	A	G	A93486987G	CALCR	NM_001742.4(CALCR):c.-6T>C	coding	Benign
7	93495798	T	C	T93495798C	CALCR	NM_001742.4(CALCR):c.-26-8791A>G	noncoding	Benign
7	93496252	C	A	C93496252A	CALCR	NM_001742.4(CALCR):c.-26-9245G>T	noncoding	Benign
7	94395619	A	G	A94395619G	COL1A2	NM_000089.4(COL1A2):c.70+518A>G	noncoding	Benign
7	94398219	T	C	T94398219C	COL1A2	NM_000089.4(COL1A2):c.82-163T>C	noncoding	Benign
7	94399115	G	A	G94399115A	COL1A2	NM_000089.4(COL1A2):c.132+31G>A	noncoding	Benign
7	94400497	C	T	C94400497T	COL1A2	NM_000089.4(COL1A2):c.225+209C>T	noncoding	Benign
7	94401345	A	G	A94401345G	COL1A2	NM_000089.4(COL1A2):c.226-222A>G	noncoding	Benign
7	94401612	G	T	G94401612T	COL1A2	NM_000089.4(COL1A2):c.271G>T:p.Gly91Ter	coding	Pathogenic
7	94404360	A	T	A94404360T	COL1A2	NM_000089.4(COL1A2):c.280-196A>T	noncoding	Benign
7	94404730	G	A	G94404730A	COL1A2	NM_000089.4(COL1A2):c.362G>A:p.Gly121Asp	coding	Pathogenic
7	94404897	G	A	G94404897A	COL1A2	NM_000089.4(COL1A2):c.432+5G>A	noncoding	Pathogenic
7	94405220	C	T	C94405220T	COL1A2	NM_000089.4(COL1A2):c.454C>T:p.Arg152Ter	coding	Pathogenic
7	94405536	A	G	A94405536G	COL1A2	NM_000089.4(COL1A2):c.487-137A>G	noncoding	Benign
7	94406121	C	T	C94406121T	COL1A2	NM_000089.4(COL1A2):c.541-129C>T	noncoding	Benign
7	94406304	G	T	G94406304T	COL1A2	NM_000089.4(COL1A2):c.594+1G>T	coding	Pathogenic
7	94407722	A	G	A94407722G	COL1A2	NM_000089.4(COL1A2):c.595-125A>G	noncoding	Benign
7	94407827	C	T	C94407827T	COL1A2	NM_000089.4(COL1A2):c.595-20C>T	noncoding	Benign/Likely_benign
7	94407845	A	G	A94407845G	COL1A2	NM_000089.4(COL1A2):c.595-2A>G	noncoding	Pathogenic/Likely_pathogenic
7	94407857	G	A	G94407857A	COL1A2	NM_000089.4(COL1A2):c.605G>A:p.Gly202Asp	coding	Pathogenic
7	94407884	G	A	G94407884A	COL1A2	NM_000089.4(COL1A2):c.632G>A:p.Gly211Asp	coding	Pathogenic
7	94408237	G	C	G94408237C	COL1A2	NM_000089.4(COL1A2):c.693+1G>C	coding	Pathogenic
7	94408238	T	C	T94408238C	COL1A2	NM_000089.4(COL1A2):c.693+2T>C	noncoding	Pathogenic
7	94408321	T	C	T94408321C	COL1A2	NM_000089.4(COL1A2):c.694-15T>C	noncoding	Benign
7	94408466	T	A	T94408466A	COL1A2	NM_000089.4(COL1A2):c.738+86T>A	noncoding	Benign
7	94408478	C	A	C94408478A	COL1A2	NM_000089.4(COL1A2):c.738+98C>A	noncoding	Benign
7	94408768	A	T	A94408768T	COL1A2	NM_000089.4(COL1A2):c.739-2A>T	noncoding	Pathogenic
7	94408789	G	T	G94408789T	COL1A2	NM_000089.4(COL1A2):c.758G>T:p.Gly253Val	coding	Pathogenic
7	94408823	G	A	G94408823A	COL1A2	NM_000089.4(COL1A2):c.792G>A:p.Lys264=	coding	Pathogenic
7	94409350	G	A	G94409350A	COL1A2	NM_000089.4(COL1A2):c.821G>A:p.Gly274Asp	coding	Pathogenic
7	94409359	G	T	G94409359T	COL1A2	NM_000089.4(COL1A2):c.830G>T:p.Gly277Val	coding	Pathogenic
7	94409386	G	C	G94409386C	COL1A2	NM_000089.4(COL1A2):c.857G>C:p.Gly286Ala	coding	Pathogenic/Likely_pathogenic
7	94409573	G	A	G94409573A	COL1A2	NM_000089.4(COL1A2):c.901G>A:p.Gly301Arg	coding	Pathogenic
7	94409582	G	A	G94409582A	COL1A2	NM_000089.4(COL1A2):c.910G>A:p.Gly304Ser	coding	Pathogenic/Likely_pathogenic
7	94409796	G	C	G94409796C	COL1A2	NM_000089.4(COL1A2):c.1010G>C:p.Gly337Ala	coding	Pathogenic
7	94409804	G	C	G94409804C	COL1A2	NM_000089.4(COL1A2):c.1018G>C:p.Gly340Arg	coding	Pathogenic
7	94410098	C	G	C94410098G	COL1A2	NM_000089.4(COL1A2):c.1036-144C>G	noncoding	Benign
7	94410251	G	A	G94410251A	COL1A2	NM_000089.4(COL1A2):c.1045G>A:p.Gly349Ser	coding	Pathogenic
7	94410251	G	C	G94410251C	COL1A2	NM_000089.4(COL1A2):c.1045G>C:p.Gly349Arg	coding	Pathogenic
7	94410251	G	T	G94410251T	COL1A2	NM_000089.4(COL1A2):c.1045G>T:p.Gly349Cys	coding	Pathogenic
7	94410474	G	A	G94410474A	COL1A2	NM_000089.4(COL1A2):c.1144G>A:p.Gly382Ser	coding	Pathogenic
7	94410493	G	T	G94410493T	COL1A2	NM_000089.4(COL1A2):c.1163G>T:p.Gly388Val	coding	Pathogenic
7	94410738	T	C	T94410738C	COL1A2	NM_000089.4(COL1A2):c.1198-151T>C	noncoding	Benign
7	94410898	G	C	G94410898C	COL1A2	NM_000089.4(COL1A2):c.1207G>C:p.Gly403Arg	coding	Pathogenic
7	94412068	G	A	G94412068A	COL1A2	NM_000089.4(COL1A2):c.1351G>A:p.Gly451Ser	coding	Pathogenic
7	94412069	G	A	G94412069A	COL1A2	NM_000089.4(COL1A2):c.1352G>A:p.Gly451Asp	coding	Pathogenic
7	94412078	G	T	G94412078T	COL1A2	NM_000089.4(COL1A2):c.1361G>T:p.Gly454Val	coding	Pathogenic
7	94412105	G	C	G94412105C	COL1A2	NM_000089.4(COL1A2):c.1388G>C:p.Gly463Ala	coding	Pathogenic
7	94412568	A	G	A94412568G	COL1A2	NM_000089.4(COL1A2):c.1405-16A>G	noncoding	Benign/Likely_benign
7	94412620	G	C	G94412620C	COL1A2	NM_000089.4(COL1A2):c.1441G>C:p.Gly481Arg	coding	Pathogenic
7	94412683	G	C	G94412683C	COL1A2	NM_000089.4(COL1A2):c.1503+1G>C	coding	Pathogenic/Likely_pathogenic
7	94413110	G	A	G94413110A	COL1A2	NM_000089.4(COL1A2):c.1531G>A:p.Gly511Ser	coding	Pathogenic
7	94413111	G	A	G94413111A	COL1A2	NM_000089.4(COL1A2):c.1532G>A:p.Gly511Asp	coding	Pathogenic
7	94413502	T	C	T94413502C	COL1A2	NM_000089.4(COL1A2):c.1558-188T>C	noncoding	Benign
7	94413708	G	A	G94413708A	COL1A2	NM_000089.4(COL1A2):c.1576G>A:p.Gly526Arg	coding	Pathogenic/Likely_pathogenic
7	94413892	A	G	A94413892G	COL1A2	NM_000089.4(COL1A2):c.1612-2A>G	noncoding	Pathogenic
7	94415238	G	T	G94415238T	COL1A2	NM_000089.4(COL1A2):c.1732G>T:p.Glu578Ter	coding	Pathogenic
7	94415491	C	A	C94415491A	COL1A2	NM_000089.4(COL1A2):c.1764+221C>A	noncoding	Benign
7	94416264	G	A	G94416264A	COL1A2	NM_000089.4(COL1A2):c.1765-141G>A	noncoding	Benign
7	94416414	G	A	G94416414A	COL1A2	NM_000089.4(COL1A2):c.1774G>A:p.Gly592Ser	coding	Pathogenic
7	94417726	T	C	T94417726C	COL1A2	NM_000089.4(COL1A2):c.1866T>C:p.Gly622=	coding	Benign/Likely_benign
7	94417760	G	A	G94417760A	COL1A2	NM_000089.4(COL1A2):c.1900G>A:p.Gly634Ser	coding	Pathogenic
7	94417823	G	A	G94417823A	COL1A2	NM_000089.4(COL1A2):c.1963G>A:p.Gly655Arg	coding	Pathogenic
7	94417824	G	A	G94417824A	COL1A2	NM_000089.4(COL1A2):c.1964G>A:p.Gly655Glu	coding	Pathogenic
7	94417849	T	C	T94417849C	COL1A2	NM_000089.4(COL1A2):c.1971+18T>C	noncoding	Benign/Likely_benign
7	94418365	C	T	C94418365T	COL1A2	NM_000089.4(COL1A2):c.1972-134C>T	noncoding	Benign
7	94418499	G	T	G94418499T	COL1A2	NM_000089.4(COL1A2):c.1972G>T:p.Gly658Cys	coding	Pathogenic
7	94418545	G	A	G94418545A	COL1A2	NM_000089.4(COL1A2):c.2018G>A:p.Gly673Asp	coding	Pathogenic
7	94419499	G	A	G94419499A	COL1A2	NM_000089.4(COL1A2):c.2027G>A:p.Gly676Asp	coding	Pathogenic
7	94420044	T	C	T94420044C	COL1A2	NM_000089.4(COL1A2):c.2080-189T>C	noncoding	Benign
7	94420401	G	A	G94420401A	COL1A2	NM_000089.4(COL1A2):c.2144G>A:p.Gly715Asp	coding	Pathogenic
7	94420409	G	A	G94420409A	COL1A2	NM_000089.4(COL1A2):c.2152G>A:p.Gly718Ser	coding	Pathogenic
7	94420559	G	T	G94420559T	COL1A2	NM_000089.4(COL1A2):c.2206G>T:p.Gly736Cys	coding	Pathogenic
7	94420578	G	A	G94420578A	COL1A2	NM_000089.4(COL1A2):c.2225G>A:p.Gly742Glu	coding	Pathogenic/Likely_pathogenic
7	94420631	G	A	G94420631A	COL1A2	NM_000089.4(COL1A2):c.2278G>A:p.Gly760Arg	coding	Pathogenic
7	94420641	G	A	G94420641A	COL1A2	NM_000089.4(COL1A2):c.2288G>A:p.Gly763Asp	coding	Pathogenic/Likely_pathogenic
7	94421007	A	G	A94421007G	COL1A2	NM_000089.4(COL1A2):c.2296-2A>G	noncoding	Pathogenic
7	94421036	G	C	G94421036C	COL1A2	NM_000089.4(COL1A2):c.2323G>C:p.Gly775Arg	coding	Pathogenic
7	94421296	T	G	T94421296G	COL1A2	NM_000089.4(COL1A2):c.2349+234T>G	noncoding	Benign
7	94421945	G	A	G94421945A	COL1A2	NM_000089.4(COL1A2):c.2396G>A:p.Gly799Glu	coding	Pathogenic
7	94422966	G	T	G94422966T	COL1A2	NM_000089.4(COL1A2):c.2413G>T:p.Gly805Cys	coding	Pathogenic
7	94422975	G	A	G94422975A	COL1A2	NM_000089.4(COL1A2):c.2422G>A:p.Gly808Ser	coding	Pathogenic
7	94422984	G	A	G94422984A	COL1A2	NM_000089.4(COL1A2):c.2431G>A:p.Gly811Ser	coding	Pathogenic
7	94423120	T	A	T94423120A	COL1A2	NM_000089.4(COL1A2):c.2565+2T>A	noncoding	Pathogenic
7	94423291	A	G	A94423291G	COL1A2	NM_000089.4(COL1A2):c.2565+173A>G	noncoding	Benign
7	94423351	G	A	G94423351A	COL1A2	NM_000089.4(COL1A2):c.2565+233G>A	noncoding	Benign
7	94424373	G	C	G94424373C	COL1A2	NM_000089.4(COL1A2):c.2603G>C:p.Gly868Ala	coding	Pathogenic
7	94424688	T	C	T94424688C	COL1A2	NM_000089.4(COL1A2):c.2673+245T>C	noncoding	Benign
7	94424882	C	T	C94424882T	COL1A2	NM_000089.4(COL1A2):c.2674-235C>T	noncoding	Benign
7	94425118	G	A	G94425118A	COL1A2	NM_000089.4(COL1A2):c.2675G>A:p.Gly892Asp	coding	Pathogenic
7	94425144	G	A	G94425144A	COL1A2	NM_000089.4(COL1A2):c.2701G>A:p.Gly901Ser	coding	Pathogenic/Likely_pathogenic
7	94425162	G	A	G94425162A	COL1A2	NM_000089.4(COL1A2):c.2719G>A:p.Gly907Ser	coding	Pathogenic
7	94425198	G	T	G94425198T	COL1A2	NM_000089.4(COL1A2):c.2755G>T:p.Gly919Cys	coding	Pathogenic
7	94425637	G	T	G94425637T	COL1A2	NM_000089.4(COL1A2):c.2809G>T:p.Gly937Cys	coding	Pathogenic
7	94425647	G	T	G94425647T	COL1A2	NM_000089.4(COL1A2):c.2819G>T:p.Gly940Val	coding	Pathogenic
7	94426043	G	A	G94426043A	COL1A2	NM_000089.4(COL1A2):c.2989G>A:p.Gly997Ser	coding	Pathogenic/Likely_pathogenic
7	94426158	T	A	T94426158A	COL1A2	NM_000089.4(COL1A2):c.2997+107T>A	noncoding	Benign
7	94426694	A	G	A94426694G	COL1A2	NM_000089.4(COL1A2):c.3105+164A>G	noncoding	Benign
7	94426732	G	T	G94426732T	COL1A2	NM_000089.4(COL1A2):c.3105+202G>T	noncoding	Benign
7	94426787	A	G	A94426787G	COL1A2	NM_000089.4(COL1A2):c.3106-221A>G	noncoding	Benign
7	94426833	A	G	A94426833G	COL1A2	NM_000089.4(COL1A2):c.3106-175A>G	noncoding	Benign
7	94427198	G	A	G94427198A	COL1A2	NM_000089.4(COL1A2):c.3170G>A:p.Gly1057Asp	coding	Pathogenic
7	94427261	G	A	G94427261A	COL1A2	NM_000089.4(COL1A2):c.3233G>A:p.Gly1078Asp	coding	Pathogenic
7	94427266	C	T	C94427266T	COL1A2	NM_000089.4(COL1A2):c.3238C>T:p.Arg1080Ter	coding	Pathogenic
7	94427288	G	A	G94427288A	COL1A2	NM_000089.4(COL1A2):c.3260G>A:p.Gly1087Asp	coding	Pathogenic
7	94427636	G	C	G94427636C	COL1A2	NM_000089.4(COL1A2):c.3277G>C:p.Gly1093Arg	coding	Pathogenic
7	94427637	G	C	G94427637C	COL1A2	NM_000089.4(COL1A2):c.3278G>C:p.Gly1093Ala	coding	Pathogenic
7	94427646	G	C	G94427646C	COL1A2	NM_000089.4(COL1A2):c.3287G>C:p.Gly1096Ala	coding	Pathogenic
7	94427714	G	A	G94427714A	COL1A2	NM_000089.4(COL1A2):c.3355G>A:p.Ala1119Thr	coding	Pathogenic/Likely_pathogenic
7	94427717	G	A	G94427717A	COL1A2	NM_000089.4(COL1A2):c.3358G>A:p.Asp1120Asn	coding	Pathogenic
7	94428106	A	C	A94428106C	COL1A2	NM_000089.4(COL1A2):c.3527-187A>C	noncoding	Benign
7	94428292	G	T	G94428292T	COL1A2	NM_000089.4(COL1A2):c.3527-1G>T	noncoding	Pathogenic
7	94429086	T	C	T94429086C	COL1A2	NM_000089.4(COL1A2):c.3712-102T>C	noncoding	Benign
7	94429291	G	T	G94429291T	COL1A2	NM_000089.4(COL1A2):c.3815G>T:p.Cys1272Phe	coding	Pathogenic
7	94429924	G	A	G94429924A	COL1A2	NM_000089.4(COL1A2):c.3955-323G>A	noncoding	Benign
7	94430005	G	A	G94430005A	COL1A2	NM_000089.4(COL1A2):c.3955-242G>A	noncoding	Benign
7	94430032	T	G	T94430032G	COL1A2	NM_000089.4(COL1A2):c.3955-215T>G	noncoding	Benign
7	94587878	A	T	A94587878T	SGCE	NM_003919.3(SGCE):c.1297+811T>A	noncoding	Benign
7	94598503	T	C	T94598503C	SGCE	NM_003919.3(SGCE):c.1253+272A>G	noncoding	Benign
7	94599005	A	G	A94599005G	SGCE	NM_003919.3(SGCE):c.1065-42T>C	noncoding	Benign
7	94599959	G	A	G94599959A	SGCE	NM_003919.3(SGCE):c.1038-236C>T	noncoding	Benign
7	94599968	G	A	G94599968A	SGCE	NM_003919.3(SGCE):c.1038-245C>T	noncoding	Benign
7	94600741	G	C	G94600741C	SGCE	NM_003919.3(SGCE):c.942C>G:p.Tyr314Ter	coding	Pathogenic
7	94600741	G	T	G94600741T	SGCE	NM_003919.3(SGCE):c.942C>A:p.Tyr314Ter	coding	Pathogenic
7	94600780	G	T	G94600780T	SGCE	NM_003919.3(SGCE):c.903C>A:p.Tyr301Ter	coding	Pathogenic
7	94600788	C	A	C94600788A	SGCE	NM_003919.3(SGCE):c.895G>T:p.Gly299Ter	coding	Pathogenic
7	94603289	C	T	C94603289T	SGCE	NM_003919.3(SGCE):c.825+1G>A	noncoding	Pathogenic
7	94603302	G	T	G94603302T	SGCE	NM_003919.3(SGCE):c.813C>A:p.Cys271Ter	coding	Pathogenic
7	94603364	C	A	C94603364A	SGCE	NM_003919.3(SGCE):c.751G>T:p.Glu251Ter	coding	Pathogenic
7	94603454	T	A	T94603454A	SGCE	NM_003919.3(SGCE):c.663-2A>T	noncoding	Pathogenic
7	94603772	A	T	A94603772T	SGCE	NM_003919.3(SGCE):c.663-320T>A	noncoding	Benign
7	94618659	C	A	C94618659A	SGCE	NM_003919.3(SGCE):c.662+99G>T	noncoding	Benign
7	94618758	C	A	C94618758A	SGCE	NM_003919.3(SGCE):c.662G>T:p.Gly221Val	coding	Pathogenic
7	94618869	A	G	A94618869G	SGCE	NM_003919.3(SGCE):c.551T>C:p.Leu184Pro	coding	Pathogenic/Likely_pathogenic
7	94623059	A	G	A94623059G	SGCE	NM_003919.3(SGCE):c.463+266T>C	noncoding	Benign
7	94623306	A	C	A94623306C	SGCE	NM_003919.3(SGCE):c.463+19T>G	noncoding	Benign
7	94623323	A	T	A94623323T	SGCE	NM_003919.3(SGCE):c.463+2T>A	noncoding	Pathogenic
7	94623398	C	T	C94623398T	SGCE	NM_003919.3(SGCE):c.391-1G>A	coding	Pathogenic/Likely_pathogenic
7	94627959	G	A	G94627959A	SGCE	NM_003919.3(SGCE):c.390+243C>T	noncoding	Benign
7	94628248	T	C	T94628248C	SGCE	NM_003919.3(SGCE):c.344A>G:p.Tyr115Cys	coding	Pathogenic
7	94628684	A	G	A94628684G	SGCE	NM_003919.3(SGCE):c.233-325T>C	noncoding	Benign
7	94629585	C	T	C94629585T	SGCE	NM_003919.3(SGCE):c.232+134G>A	noncoding	Benign
7	94629798	G	C	G94629798C	SGCE	NM_003919.3(SGCE):c.153C>G:p.Tyr51Ter	coding	Pathogenic
7	94655989	C	T	C94655989T	SGCE	NM_003919.3(SGCE):c.109+1G>A	noncoding	Pathogenic
7	94656254	A	C	A94656254C	SGCE	Single_allele	noncoding	Benign
7	94911104	A	G	A94911104G	PPP1R9A	NM_001166160.2(PPP1R9A):c.991A>G:p.Met331Val	coding	Benign
7	95306593	A	G	A95306593G	PON1	NM_000446.7(PON1):c.699-227T>C	noncoding	Benign
7	95308134	T	C	T95308134C	PON1	NM_000446.7(PON1):c.575A>G:p.Gln192Arg	coding	Benign
7	95308312	G	A	G95308312A	PON1	NM_000446.7(PON1):c.498-101C>T	noncoding	Benign
7	95311275	G	A	G95311275A	PON1	NM_000446.7(PON1):c.497+176C>T	noncoding	Benign
7	95311470	T	C	T95311470C	PON1	NM_000446.7(PON1):c.478A>G:p.Arg160Gly	coding	Benign
7	95311726	G	T	G95311726T	PON1	NM_000446.7(PON1):c.371-149C>A	noncoding	Benign
7	95315611	C	T	C95315611T	PON1	NM_000446.7(PON1):c.202-121G>A	noncoding	Benign
7	95316432	C	T	C95316432T	PON1	NM_000446.7(PON1):c.201+302G>A	noncoding	Benign
7	95316560	G	A	G95316560A	PON1	NM_000446.7(PON1):c.201+174C>T	noncoding	Benign
7	95316772	A	T	A95316772T	PON1	NM_000446.7(PON1):c.163T>A:p.Leu55Met	coding	Benign
7	95316943	G	T	G95316943T	PON1	NM_000446.7(PON1):c.146-154C>A	noncoding	Benign
7	95318487	G	A	G95318487A	PON1	NM_000446.7(PON1):c.75-94C>T	noncoding	Benign
7	95318657	C	T	C95318657T	PON1	NM_000446.7(PON1):c.75-264G>A	noncoding	Benign
7	95318697	G	A	G95318697A	PON1	NM_000446.7(PON1):c.75-304C>T	noncoding	Benign
7	95324583	G	A	G95324583A	PON1	NM_000446.6(PON1):c.-108C>T	noncoding	Benign
7	95324601	G	C	G95324601C	PON1	Single_allele	noncoding	Benign
7	95324637	T	C	T95324637C	PON1	Single_allele	noncoding	Benign
7	95360361	C	T	C95360361T	PON3	NM_000940.3(PON3):c.907-230G>A	noncoding	Benign
7	95362320	T	C	T95362320C	PON3	NM_000940.3(PON3):c.906+42A>G	noncoding	Benign
7	95362932	T	C	T95362932C	PON3	NM_000940.3(PON3):c.696-91A>G	noncoding	Benign
7	95363596	G	A	G95363596A	PON3	NM_000940.3(PON3):c.695+267C>T	noncoding	Benign
7	95367601	T	G	T95367601G	PON3	NM_000940.3(PON3):c.368-113A>C	noncoding	Benign
7	95372046	A	T	A95372046T	PON3	NM_000940.3(PON3):c.367+127T>A	noncoding	Benign
7	95372243	C	T	C95372243T	PON3	NM_000940.3(PON3):c.297G>A:p.Ala99=	coding	Benign
7	95390043	G	A	G95390043A	PON3	NM_000940.3(PON3):c.201+111C>T	noncoding	Benign
7	95394734	A	G	A95394734G	PON3	NM_000940.3(PON3):c.75-20T>C	noncoding	Benign
7	95396141	G	A	G95396141A	PON3	NM_000940.3(PON3):c.74+136C>T	noncoding	Benign
7	95396288	G	A	G95396288A	PON3	NM_000940.3(PON3):c.63C>T:p.Phe21=	coding	Benign
7	95405509	A	T	A95405509T	PON2	NM_000305.3(PON2):c.907-21T>A	noncoding	Benign
7	95406270	A	T	A95406270T	PON2	NM_000305.3(PON2):c.778-23T>A	noncoding	Benign
7	95406821	A	T	A95406821T	PON2	NM_000305.3(PON2):c.777+166T>A	noncoding	Benign
7	95410133	C	T	C95410133T	PON2	NM_000305.3(PON2):c.495-32G>A	noncoding	Benign
7	95411959	C	T	C95411959T	PON2	NM_000305.3(PON2):c.368-180G>A	noncoding	Benign
7	95412230	G	T	G95412230T	PON2	NM_000305.3(PON2):c.367+82C>A	noncoding	Benign
7	95415946	C	G	C95415946G	PON2	NM_000305.3(PON2):c.201+296G>C	noncoding	Benign
7	95415995	C	A	C95415995A	PON2	NM_000305.3(PON2):c.201+247G>T	noncoding	Benign
7	95416248	A	G	A95416248G	PON2	NM_000305.3(PON2):c.195T>C:p.Phe65_Ser66=	coding	Benign
7	95424695	T	G	T95424695G	PON2	NM_000305.3(PON2):c.75-110A>C	noncoding	Benign
7	95810423	A	C	A95810423C	DYNC1I1	NM_001135556.2(DYNC1I1):c.140A>C:p.Gln47Pro	coding	Benign
7	95810499	G	A	G95810499A	DYNC1I1	NM_001135556.2(DYNC1I1):c.216G>A:p.Pro72=	coding	Benign
7	95827848	C	T	C95827848T	DYNC1I1	NM_001135556.2(DYNC1I1):c.315-209C>T	noncoding	Benign
7	95827886	C	T	C95827886T	DYNC1I1	NM_001135556.2(DYNC1I1):c.315-171C>T	noncoding	Benign
7	95827912	G	C	G95827912C	DYNC1I1	NM_001135556.2(DYNC1I1):c.315-145G>C	noncoding	Benign
7	95827944	G	A	G95827944A	DYNC1I1	NM_001135556.2(DYNC1I1):c.315-113G>A	noncoding	Benign
7	95869754	C	A	C95869754A	DYNC1I1	NM_001135556.2(DYNC1I1):c.375-129C>A	noncoding	Benign
7	95869871	T	C	T95869871C	DYNC1I1	NM_001135556.2(DYNC1I1):c.375-12T>C	noncoding	Benign
7	95869922	A	G	A95869922G	DYNC1I1	NM_001135556.2(DYNC1I1):c.414A>G:p.Gln138=	coding	Benign
7	95977312	A	C	A95977312C	DYNC1I1	NM_001135556.2(DYNC1I1):c.491-200A>C	noncoding	Benign
7	95984710	G	C	G95984710C	DYNC1I1	NM_001135556.2(DYNC1I1):c.581-105G>C	noncoding	Benign
7	95984766	A	C	A95984766C	DYNC1I1	NM_001135556.2(DYNC1I1):c.581-49A>C	noncoding	Benign
7	95985084	G	A	G95985084A	DYNC1I1	NM_001135556.2(DYNC1I1):c.743+107G>A	noncoding	Benign
7	95985155	G	T	G95985155T	DYNC1I1	NM_001135556.2(DYNC1I1):c.743+178G>T	noncoding	Benign
7	95985171	T	A	T95985171A	DYNC1I1	NM_001135556.2(DYNC1I1):c.743+194T>A	noncoding	Benign
7	95986997	T	C	T95986997C	DYNC1I1	NM_001135556.2(DYNC1I1):c.744-59T>C	noncoding	Benign
7	95987018	G	A	G95987018A	DYNC1I1	NM_001135556.2(DYNC1I1):c.744-38G>A	noncoding	Benign
7	95995799	T	C	T95995799C	DYNC1I1	NM_001135556.2(DYNC1I1):c.844-149T>C	noncoding	Benign
7	95995877	T	C	T95995877C	DYNC1I1	NM_001135556.2(DYNC1I1):c.844-71T>C	noncoding	Benign
7	95996148	C	T	C95996148T	DYNC1I1	NM_001135556.2(DYNC1I1):c.969+75C>T	noncoding	Benign
7	96080290	C	T	C96080290T	DYNC1I1	NM_001135556.2(DYNC1I1):c.1651-73C>T	noncoding	Benign
7	96097702	T	C	T96097702C	DYNC1I1	NM_001135556.2(DYNC1I1):c.*109T>C	coding	Benign
7	96121912	G	C	G96121912C	SLC25A13	NM_014251.3(SLC25A13):c.1677C>G:p.Tyr559Ter	coding	Pathogenic
7	96131860	G	A	G96131860A	SLC25A13	NM_014251.3(SLC25A13):c.1474C>T:p.Arg492Trp	coding	Pathogenic
7	96131882	C	T	C96131882T	SLC25A13	NM_014251.3(SLC25A13):c.1453-1G>A	coding	Pathogenic/Likely_pathogenic
7	96131883	T	A	T96131883A	SLC25A13	NM_014251.3(SLC25A13):c.1453-2A>T	noncoding	Pathogenic
7	96146396	C	T	C96146396T	SLC25A13	NM_014251.3(SLC25A13):c.1452+160G>A	noncoding	Benign
7	96146458	G	C	G96146458C	SLC25A13	NM_014251.3(SLC25A13):c.1452+98C>G	noncoding	Benign
7	96146684	G	A	G96146684A	SLC25A13	NM_014251.3(SLC25A13):c.1324C>T:p.Gln442Ter	coding	Pathogenic
7	96146763	A	T	A96146763T	SLC25A13	NM_014251.3(SLC25A13):c.1312-67T>A	noncoding	Benign
7	96146837	C	T	C96146837T	SLC25A13	NM_014251.3(SLC25A13):c.1312-141G>A	noncoding	Benign
7	96170045	G	T	G96170045T	SLC25A13	NM_014251.3(SLC25A13):c.1311C>A:p.Cys437Ter	coding	Pathogenic
7	96170231	T	C	T96170231C	SLC25A13	NM_014251.3(SLC25A13):c.1231-106A>G	noncoding	Benign
7	96171697	C	T	C96171697T	SLC25A13	NM_014251.3(SLC25A13):c.1178-173G>A	noncoding	Benign
7	96184281	A	C	A96184281C	SLC25A13	NM_014251.3(SLC25A13):c.1173T>G:p.Tyr391Ter	coding	Pathogenic
7	96184379	G	A	G96184379A	SLC25A13	NM_014251.3(SLC25A13):c.1075C>T:p.Gln359Ter	coding	Pathogenic
7	96184391	G	C	G96184391C	SLC25A13	NM_014251.3(SLC25A13):c.1063C>G:p.Arg355Gly	coding	Pathogenic
7	96184519	C	T	C96184519T	SLC25A13	NM_014251.3(SLC25A13):c.1019-84G>A	noncoding	Benign
7	96184975	G	A	G96184975A	SLC25A13	NM_014251.3(SLC25A13):c.970C>T:p.Gln324Ter	coding	Pathogenic
7	96189163	G	T	G96189163T	SLC25A13	NM_014251.3(SLC25A13):c.933+131C>A	noncoding	Benign
7	96189573	C	A	C96189573A	SLC25A13	NM_014251.3(SLC25A13):c.848+8G>T	noncoding	Benign/Likely_benign
7	96191109	C	T	C96191109T	SLC25A13	NM_014251.3(SLC25A13):c.754G>A:p.Glu252Lys	coding	Pathogenic
7	96191223	G	A	G96191223A	SLC25A13	NM_014251.3(SLC25A13):c.640C>T:p.Gln214Ter	coding	Pathogenic
7	96193001	A	G	A96193001G	SLC25A13	NM_014251.3(SLC25A13):c.615+36T>C	noncoding	Benign/Likely_benign
7	96193076	G	C	G96193076C	SLC25A13	NM_014251.3(SLC25A13):c.576C>G:p.Pro192=	coding	Benign
7	96193177	G	A	G96193177A	SLC25A13	NM_014251.3(SLC25A13):c.475C>T:p.Gln159Ter	coding	Pathogenic
7	96208553	C	T	C96208553T	SLC25A13	NM_014251.3(SLC25A13):c.468+285G>A	noncoding	Benign
7	96208849	G	A	G96208849A	SLC25A13	NM_014251.3(SLC25A13):c.457C>T:p.Gln153Ter	coding	Pathogenic
7	96208994	C	G	C96208994G	SLC25A13	NM_014251.3(SLC25A13):c.329-17G>C	noncoding	Benign
7	96209019	A	C	A96209019C	SLC25A13	NM_014251.3(SLC25A13):c.329-42T>G	noncoding	Benign
7	96234661	T	C	T96234661C	SLC25A13	NM_014251.3(SLC25A13):c.328+141A>G	noncoding	Benign
7	96234901	C	A	C96234901A	SLC25A13	NM_014251.3(SLC25A13):c.229G>T:p.Glu77Ter	coding	Pathogenic
7	96277276	G	C	G96277276C	SLC25A13	NM_014251.3(SLC25A13):c.132C>G:p.Tyr44Ter	coding	Pathogenic
7	96277281	G	A	G96277281A	SLC25A13	NM_014251.3(SLC25A13):c.127C>T:p.Arg43Ter	coding	Pathogenic
7	96277314	C	A	C96277314A	SLC25A13	NM_014251.3(SLC25A13):c.94G>T:p.Glu32Ter	coding	Pathogenic
7	96296853	G	C	G96296853C	SLC25A13	NM_014251.3(SLC25A13):c.69+45C>G	noncoding	Benign
7	96296893	C	T	C96296893T	SLC25A13	NM_014251.3(SLC25A13):c.69+5G>A	noncoding	Pathogenic
7	96296953	T	C	T96296953C	SLC25A13	NM_014251.3(SLC25A13):c.16-2A>G	noncoding	Pathogenic
7	96297233	T	C	T96297233C	SLC25A13	NM_014251.3(SLC25A13):c.16-282A>G	noncoding	Benign
7	97006028	C	T	C97006028T	DLX6	NM_005222.4(DLX6):c.51C>T:p.Ser17=	coding	Benign
7	97006316	C	T	C97006316T	DLX6	NM_005222.4(DLX6):c.339C>T:p.Leu113=	coding	Benign
7	97006429	G	A	G97006429A	DLX6	NM_005222.4(DLX6):c.436+16G>A	noncoding	Benign
7	97007553	A	C	A97007553C	DLX6	NM_005222.4(DLX6):c.437-85A>C	noncoding	Benign
7	97010056	A	G	A97010056G	DLX6	NM_005222.4(DLX6):c.*9A>G	noncoding	Benign
7	97022094	A	G	A97022094G	DLX5	NM_005221.6(DLX5):c.540+91T>C	noncoding	Benign
7	97022673	G	A	G97022673A	DLX5	NM_005221.6(DLX5):c.356-304C>T	noncoding	Benign
7	97024926	A	G	A97024926G	DLX5	Single_allele	noncoding	Benign
7	97025037	G	A	G97025037A	DLX5	Single_allele	noncoding	Benign
7	97852179	T	G	T97852179G	ASNS	NM_001673.5(ASNS):c.*80A>C	noncoding	Benign
7	97852296	C	T	C97852296T	ASNS	NM_001673.5(ASNS):c.1649G>A:p.Arg550His	coding	Pathogenic/Likely_pathogenic
7	97852335	C	T	C97852335T	ASNS	NM_001673.5(ASNS):c.1610G>A:p.Trp537Ter	coding	Pathogenic
7	97852500	C	T	C97852500T	ASNS	NM_001673.5(ASNS):c.1477-32G>A	noncoding	Benign
7	97852614	A	G	A97852614G	ASNS	NM_001673.5(ASNS):c.1477-146T>C	noncoding	Benign
7	97852895	G	A	G97852895A	ASNS	NM_001673.5(ASNS):c.1476+165C>T	noncoding	Benign
7	97854291	T	C	T97854291C	ASNS	NM_001673.5(ASNS):c.1238+289A>G	noncoding	Benign
7	97854438	C	G	C97854438G	ASNS	NM_001673.5(ASNS):c.1238+142G>C	noncoding	Benign/Likely_benign
7	97854528	T	C	T97854528C	ASNS	NM_001673.5(ASNS):c.1238+52A>G	noncoding	Benign
7	97854609	G	C	G97854609C	ASNS	NM_001673.5(ASNS):c.1209C>G:p.Leu403=	coding	Benign
7	97854625	T	C	T97854625C	ASNS	NM_001673.5(ASNS):c.1193A>G:p.Tyr398Cys	coding	Pathogenic
7	97854625	T	G	T97854625G	ASNS	NM_001673.5(ASNS):c.1193A>C:p.Tyr398Ser	coding	Pathogenic
7	97855166	A	T	A97855166T	ASNS	NM_001673.5(ASNS):c.1137+187T>A	noncoding	Benign
7	97855352	C	T	C97855352T	ASNS	NM_001673.5(ASNS):c.1137+1G>A	noncoding	Pathogenic
7	97856901	T	C	T97856901C	ASNS	NM_001673.5(ASNS):c.904-85A>G	noncoding	Benign
7	97858034	A	G	A97858034G	ASNS	NM_001673.5(ASNS):c.903+244T>C	noncoding	Benign
7	97858410	A	C	A97858410C	ASNS	NM_001673.5(ASNS):c.776-5T>G	noncoding	Pathogenic
7	97858418	G	A	G97858418A	ASNS	NM_001673.5(ASNS):c.776-13C>T	noncoding	Benign
7	97858659	T	C	T97858659C	ASNS	NM_001673.5(ASNS):c.775+195A>G	noncoding	Benign
7	97858944	C	A	C97858944A	ASNS	NM_001673.5(ASNS):c.685G>T:p.Glu229Ter	coding	Pathogenic
7	97859038	A	G	A97859038G	ASNS	NM_001673.5(ASNS):c.674-83T>C	noncoding	Benign
7	97859421	T	C	T97859421C	ASNS	NM_001673.5(ASNS):c.488-23A>G	noncoding	Benign
7	97859478	A	G	A97859478G	ASNS	NM_001673.5(ASNS):c.488-80T>C	noncoding	Benign
7	97864028	A	G	A97864028G	ASNS	NM_001673.5(ASNS):c.487+231T>C	noncoding	Benign
7	97864125	A	T	A97864125T	ASNS	NM_001673.5(ASNS):c.487+134T>A	noncoding	Benign
7	97864458	C	T	C97864458T	ASNS	NM_001673.5(ASNS):c.288G>A:p.Val96=	coding	Benign/Likely_benign
7	97868944	C	T	C97868944T	ASNS	NM_001673.5(ASNS):c.213G>A:p.Trp71Ter	coding	Pathogenic
7	97868948	A	T	A97868948T	ASNS	NM_001673.5(ASNS):c.209T>A:p.Leu70Ter	coding	Pathogenic
7	97868970	G	A	G97868970A	ASNS	NM_001673.5(ASNS):c.187C>T:p.Arg63Ter	coding	Pathogenic/Likely_pathogenic
7	97868975	G	A	G97868975A	ASNS	NM_001673.5(ASNS):c.182C>T:p.Pro61Leu	coding	Pathogenic
7	97869060	G	A	G97869060A	ASNS	NM_001673.5(ASNS):c.97C>T:p.Arg33Cys	coding	Pathogenic/Likely_pathogenic
7	97869155	A	G	A97869155G	ASNS	NM_001673.5(ASNS):c.2T>C:p.Met1Thr	coding	Pathogenic
7	97869223	A	G	A97869223G	ASNS	NM_001673.5(ASNS):c.-23-44T>C	noncoding	Benign
7	97869328	C	T	C97869328T	ASNS	NM_001673.5(ASNS):c.-23-149G>A	noncoding	Benign
7	98881057	A	G	A98881057G	TRRAP	NM_001375524.1(TRRAP):c.-61-33A>G	noncoding	Benign
7	98882084	G	A	G98882084A	TRRAP	NM_001375524.1(TRRAP):c.150+60G>A	noncoding	Benign
7	98893638	T	C	T98893638C	TRRAP	NM_001375524.1(TRRAP):c.367-160T>C	noncoding	Benign
7	98897681	G	T	G98897681T	TRRAP	NM_001375524.1(TRRAP):c.508-60G>T	noncoding	Benign
7	98897744	C	T	C98897744T	TRRAP	NM_001375524.1(TRRAP):c.511C>T:p.Arg171Cys	coding	Benign
7	98897785	G	C	G98897785C	TRRAP	NM_001375524.1(TRRAP):c.552G>C:p.Val184=	coding	Benign
7	98899583	C	G	C98899583G	TRRAP	NM_001375524.1(TRRAP):c.711+84C>G	noncoding	Benign
7	98900883	T	C	T98900883C	TRRAP	NM_001375524.1(TRRAP):c.897+163T>C	noncoding	Benign
7	98903219	A	G	A98903219G	TRRAP	NM_001375524.1(TRRAP):c.898-160A>G	noncoding	Benign
7	98903333	C	T	C98903333T	TRRAP	NM_001375524.1(TRRAP):c.898-46C>T	noncoding	Benign
7	98906226	C	T	C98906226T	TRRAP	NM_001375524.1(TRRAP):c.1086C>T:p.Gly362=	coding	Benign
7	98906261	A	C	A98906261C	TRRAP	NM_001375524.1(TRRAP):c.1115+6A>C	noncoding	Benign
7	98908818	C	T	C98908818T	TRRAP	NM_001375524.1(TRRAP):c.1206C>T:p.Phe402=	coding	Benign
7	98910268	G	A	G98910268A	TRRAP	NM_001375524.1(TRRAP):c.1563G>A:p.Pro521=	coding	Benign
7	98910328	C	G	C98910328G	TRRAP	NM_001375524.1(TRRAP):c.1623C>G:p.Phe541Leu	coding	Benign
7	98910951	G	A	G98910951A	TRRAP	NM_001375524.1(TRRAP):c.1813-126G>A	noncoding	Benign
7	98911226	G	A	G98911226A	TRRAP	NM_001375524.1(TRRAP):c.1962G>A:p.Thr654=	coding	Benign
7	98911927	G	C	G98911927C	TRRAP	NM_001375524.1(TRRAP):c.2008-95G>C	noncoding	Benign
7	98915677	C	T	C98915677T	TRRAP	NM_001375524.1(TRRAP):c.2200-46C>T	noncoding	Benign
7	98915712	C	G	C98915712G	TRRAP	NM_001375524.1(TRRAP):c.2200-11C>G	noncoding	Benign
7	98917410	C	T	C98917410T	TRRAP	NM_001375524.1(TRRAP):c.2366-13C>T	noncoding	Benign
7	98917496	C	G	C98917496G	TRRAP	NM_001375524.1(TRRAP):c.2439C>G:p.Val813=	coding	Benign
7	98925270	C	T	C98925270T	TRRAP	NM_001375524.1(TRRAP):c.2975+7C>T	noncoding	Benign
7	98925299	A	T	A98925299T	TRRAP	NM_001375524.1(TRRAP):c.2975+36A>T	noncoding	Benign
7	98925340	T	G	T98925340G	TRRAP	NM_001375524.1(TRRAP):c.2975+77T>G	noncoding	Benign
7	98927295	G	A	G98927295A	TRRAP	NM_001375524.1(TRRAP):c.3104G>A:p.Arg1035Gln	coding	Pathogenic
7	98930065	G	A	G98930065A	TRRAP	NM_001375524.1(TRRAP):c.3252G>A:p.Ser1084=	coding	Benign
7	98930124	A	G	A98930124G	TRRAP	NM_001375524.1(TRRAP):c.3311A>G:p.Glu1104Gly	coding	Pathogenic
7	98930295	G	A	G98930295A	TRRAP	NM_001375524.1(TRRAP):c.3393+89G>A	noncoding	Benign
7	98930714	G	A	G98930714A	TRRAP	NM_001375524.1(TRRAP):c.3475G>A:p.Gly1159Arg	coding	Pathogenic
7	98935564	T	G	T98935564G	TRRAP	NM_001375524.1(TRRAP):c.4015-15T>G	noncoding	Benign
7	98937297	T	A	T98937297A	TRRAP	NM_001375524.1(TRRAP):c.4233+20T>A	noncoding	Benign
7	98945989	C	T	C98945989T	TRRAP	NM_001375524.1(TRRAP):c.4548+39C>T	noncoding	Benign
7	98948268	G	A	G98948268A	TRRAP	NM_001375524.1(TRRAP):c.4596G>A:p.Pro1532=	coding	Benign
7	98948532	G	A	G98948532A	TRRAP	NM_001375524.1(TRRAP):c.4669-34G>A	noncoding	Benign
7	98948730	T	G	T98948730G	TRRAP	NM_001375524.1(TRRAP):c.4788+45T>G	noncoding	Benign
7	98949276	G	C	G98949276C	TRRAP	NM_001375524.1(TRRAP):c.4789-141G>C	noncoding	Benign
7	98951219	C	G	C98951219G	TRRAP	NM_001375524.1(TRRAP):c.5463+215C>G	noncoding	Benign
7	98953529	C	T	C98953529T	TRRAP	NM_001375524.1(TRRAP):c.5730+96C>T	noncoding	Benign
7	98955087	C	T	C98955087T	TRRAP	NM_001375524.1(TRRAP):c.5731-11C>T	noncoding	Benign
7	98955127	A	G	A98955127G	TRRAP	NM_001375524.1(TRRAP):c.5760A>G:p.Ala1920=	coding	Benign
7	98956515	C	G	C98956515G	TRRAP	NM_001375524.1(TRRAP):c.6213C>G:p.Ala2071=	coding	Benign
7	98959339	C	T	C98959339T	TRRAP	NM_001375524.1(TRRAP):c.6343-5C>T	noncoding	Benign
7	98959382	G	A	G98959382A	TRRAP	NM_001375524.1(TRRAP):c.6381G>A:p.Glu2127=	coding	Benign
7	98961257	G	C	G98961257C	TRRAP	NM_001375524.1(TRRAP):c.6490-4G>C	noncoding	Benign
7	98962590	T	C	T98962590C	TRRAP	NM_001375524.1(TRRAP):c.6829+163T>C	noncoding	Benign
7	98962604	T	C	T98962604C	TRRAP	NM_001375524.1(TRRAP):c.6829+177T>C	noncoding	Benign
7	98962620	C	T	C98962620T	TRRAP	NM_001375524.1(TRRAP):c.6829+193C>T	noncoding	Benign
7	98964771	C	T	C98964771T	TRRAP	NM_001375524.1(TRRAP):c.6972C>T:p.Thr2324=	coding	Benign/Likely_benign
7	98965521	T	C	T98965521C	TRRAP	NM_001375524.1(TRRAP):c.6977-175T>C	noncoding	Benign
7	98966003	A	G	A98966003G	TRRAP	NM_001375524.1(TRRAP):c.7176+108A>G	noncoding	Benign
7	98970394	C	T	C98970394T	TRRAP	NM_001375524.1(TRRAP):c.7692+103C>T	noncoding	Benign
7	98976008	G	T	G98976008T	TRRAP	NM_001375524.1(TRRAP):c.7840-141G>T	noncoding	Benign
7	98976220	C	T	C98976220T	TRRAP	NM_001375524.1(TRRAP):c.7911C>T:p.Val2637=	coding	Benign
7	98977087	G	A	G98977087A	TRRAP	NM_001375524.1(TRRAP):c.8385+11G>A	noncoding	Benign
7	98978923	A	T	A98978923T	TRRAP	NM_001375524.1(TRRAP):c.8634+19A>T	noncoding	Benign
7	98983038	A	G	A98983038G	TRRAP	NM_001375524.1(TRRAP):c.8827-226A>G	noncoding	Benign
7	98983572	G	T	G98983572T	TRRAP	NM_001375524.1(TRRAP):c.9022+113G>T	noncoding	Benign
7	98983889	C	A	C98983889A	TRRAP	NM_001375524.1(TRRAP):c.9023-204C>A	noncoding	Benign
7	98990367	A	G	A98990367G	TRRAP	NM_001375524.1(TRRAP):c.9592-88A>G	noncoding	Benign
7	98990633	G	T	G98990633T	TRRAP	NM_001375524.1(TRRAP):c.9756+14G>T	noncoding	Benign
7	98990779	A	G	A98990779G	TRRAP	NM_001375524.1(TRRAP):c.9756+160A>G	noncoding	Benign
7	99005016	G	A	G99005016A	TRRAP	NM_001375524.1(TRRAP):c.10536-115G>A	noncoding	Benign
7	99005091	G	T	G99005091T	TRRAP	NM_001375524.1(TRRAP):c.10536-40G>T	noncoding	Benign
7	99005367	G	C	G99005367C	TRRAP	NM_001375524.1(TRRAP):c.10753+19G>C	noncoding	Benign
7	99005487	G	A	G99005487A	TRRAP	NM_001375524.1(TRRAP):c.10753+139G>A	noncoding	Benign
7	99008483	C	T	C99008483T	TRRAP	NM_001375524.1(TRRAP):c.10860C>T:p.Ile3620=	coding	Benign
7	99010983	T	A	T99010983A	TRRAP	NM_001375524.1(TRRAP):c.10939-69T>A	noncoding	Benign
7	99052428	G	C	G99052428C	SMURF1	NM_181349.3(SMURF1):c.498C>G:p.Ser166=	coding	Benign
7	99173726	T	C	T99173726C	KPNA7	NM_001145715.3(KPNA7):c.1533A>G:p.Glu511=	coding	Benign
7	99173813	A	T	A99173813T	KPNA7	NM_001145715.3(KPNA7):c.1465-19T>A	noncoding	Benign
7	99177902	C	T	C99177902T	KPNA7	NM_001145715.3(KPNA7):c.1464+18G>A	noncoding	Benign
7	99181866	T	G	T99181866G	KPNA7	NM_001145715.3(KPNA7):c.1317+17A>C	noncoding	Benign
7	99185127	C	T	C99185127T	KPNA7	NM_001145715.3(KPNA7):c.936G>A:p.Thr312=	coding	Benign
7	99193046	G	C	G99193046C	KPNA7	NM_001145715.3(KPNA7):c.609C>G:p.Leu203=	coding	Benign
7	99193076	G	A	G99193076A	KPNA7	NM_001145715.3(KPNA7):c.579C>T:p.Asn193=	coding	Benign
7	99195212	G	A	G99195212A	KPNA7	NM_001145715.3(KPNA7):c.411C>T:p.Ala137=	coding	Benign
7	99203211	A	G	A99203211G	KPNA7	NM_001145715.3(KPNA7):c.96T>C:p.Ser32=	coding	Benign
7	99385798	C	T	C99385798T	ARPC1B	NM_005720.4(ARPC1B):c.64+20C>T	noncoding	Benign
7	99386731	G	C	G99386731C	ARPC1B	NM_005720.4(ARPC1B):c.111G>C:p.Lys37Asn	coding	Benign
7	99386776	C	T	C99386776T	ARPC1B	NM_005720.4(ARPC1B):c.156C>T:p.Asn52=	coding	Benign
7	99386799	G	A	G99386799A	ARPC1B	NM_005720.4(ARPC1B):c.169+10G>A	noncoding	Benign
7	99388043	C	T	C99388043T	ARPC1B	NM_005720.4(ARPC1B):c.174C>T:p.Ile58=	coding	Benign
7	99388100	C	A	C99388100A	ARPC1B	NM_005720.4(ARPC1B):c.231C>A:p.Tyr77Ter	coding	Pathogenic
7	99388100	C	T	C99388100T	ARPC1B	NM_005720.4(ARPC1B):c.231C>T:p.Tyr77=	coding	Benign
7	99388208	G	A	G99388208A	ARPC1B	NM_005720.4(ARPC1B):c.339G>A:p.Val113=	coding	Benign
7	99388273	G	C	G99388273C	ARPC1B	NM_005720.4(ARPC1B):c.392+12G>C	noncoding	Benign
7	99390888	G	T	G99390888T	ARPC1B	NM_005720.4(ARPC1B):c.501-5G>T	noncoding	Benign/Likely_benign
7	99391040	C	T	C99391040T	ARPC1B	NM_005720.4(ARPC1B):c.648C>T:p.Arg216=	coding	Benign
7	99391209	C	T	C99391209T	ARPC1B	NM_005720.4(ARPC1B):c.739C>T:p.Leu247=	coding	Benign
7	99392712	C	T	C99392712T	ARPC1B	NM_005720.4(ARPC1B):c.825C>T:p.Ala275=	coding	Benign
7	99392796	G	A	G99392796A	ARPC1B	NM_005720.4(ARPC1B):c.909G>A:p.Gln303=	coding	Benign
7	99392799	C	T	C99392799T	ARPC1B	NM_005720.4(ARPC1B):c.912C>T:p.Asn304=	coding	Benign
7	99394448	C	T	C99394448T	ARPC1B	NM_005720.4(ARPC1B):c.1081-3C>T	noncoding	Benign
7	99784473	C	T	C99784473T	CYP3A4	NM_017460.5(CYP3A4):c.-392G>A	noncoding	Benign
7	100095450	T	C	T100095450C	MCM7	NM_005916.5(MCM7):c.1616A>G:p.Tyr539Cys	coding	Pathogenic
7	100095790	G	A	G100095790A	MCM7	NM_005916.5(MCM7):c.1579C>T:p.Arg527Ter	coding	Pathogenic
7	100098235	C	G	C100098235G	MCM7	NM_005916.5(MCM7):c.776G>C:p.Gly259Ala	coding	Pathogenic
7	100099190	G	A	G100099190A	MCM7	NM_005916.5(MCM7):c.415C>T:p.Gln139Ter	coding	Pathogenic
7	100101167	C	G	C100101167G	AP4M1	NM_005916.5(MCM7):c.31+97G>C	noncoding	Benign
7	100101813	G	A	G100101813A	AP4M1	NM_004722.4(AP4M1):c.58+41G>A	coding	Benign
7	100101889	A	G	A100101889G	AP4M1	NM_004722.4(AP4M1):c.68A>G:p.Asp23Gly	coding	Benign
7	100102003	T	C	T100102003C	AP4M1	NM_004722.4(AP4M1):c.147+35T>C	noncoding	Benign
7	100102651	C	G	C100102651G	AP4M1	NM_004722.4(AP4M1):c.148-24C>G	noncoding	Benign
7	100104017	T	C	T100104017C	AP4M1	NM_004722.4(AP4M1):c.544-75T>C	noncoding	Benign
7	100105471	C	T	C100105471T	AP4M1	NM_004722.4(AP4M1):c.861C>T:p.Ser287=	coding	Benign
7	100106046	G	C	G100106046C	AP4M1	NM_004722.4(AP4M1):c.974+43G>C	noncoding	Benign
7	100106225	C	G	C100106225G	AP4M1	NM_004722.4(AP4M1):c.975-16C>G	noncoding	Benign
7	100106427	A	G	A100106427G	AP4M1	NM_004722.4(AP4M1):c.1050A>G:p.Pro350=	coding	Benign
7	100106515	G	T	G100106515T	AP4M1	NM_004722.4(AP4M1):c.1137+1G>T	coding	Pathogenic/Likely_pathogenic
7	100106841	C	T	C100106841T	AP4M1	NM_004722.4(AP4M1):c.1321C>T:p.Arg441Ter	coding	Pathogenic/Likely_pathogenic
7	100107173	A	T	A100107173T	AP4M1	NM_004722.4(AP4M1):c.*291A>T	noncoding	Benign
7	100107204	A	G	A100107204G	AP4M1;TAF6	NM_004722.4(AP4M1):c.*322A>G	noncoding	Benign
7	100108680	A	G	A100108680G	TAF6	NM_139315.3(TAF6):c.1285-140T>C	noncoding	Benign
7	100110059	C	T	C100110059T	TAF6	NM_139315.3(TAF6):c.1173G>A:p.Leu391=	coding	Benign
7	100110089	A	G	A100110089G	TAF6	NM_139315.3(TAF6):c.1159-16T>C	noncoding	Benign
7	100110105	G	A	G100110105A	TAF6	NM_139315.3(TAF6):c.1159-32C>T	noncoding	Benign
7	100110327	C	T	C100110327T	TAF6	NM_139315.3(TAF6):c.1084-53G>A	noncoding	Benign
7	100111122	A	C	A100111122C	TAF6	NM_139315.3(TAF6):c.1083+17T>G	noncoding	Benign
7	100111445	C	T	C100111445T	TAF6	NM_139315.3(TAF6):c.901-124G>A	noncoding	Benign
7	100113365	G	A	G100113365A	TAF6	NM_139315.3(TAF6):c.438C>T:p.Pro146=	coding	Benign
7	100113417	G	A	G100113417A	TAF6	NM_139315.3(TAF6):c.398-12C>T	noncoding	Benign
7	100113991	C	T	C100113991T	TAF6	NM_139315.3(TAF6):c.157-37G>A	noncoding	Benign
7	100119278	C	G	C100119278G	TAF6	NM_139315.3(TAF6):c.-134G>C	coding	Benign
7	100155498	A	G	A100155498G	TRAPPC14	NM_018275.5(TRAPPC14):c.1396-43T>C	noncoding	Benign
7	100180396	G	C	G100180396C	STAG3	NM_001282717.2(STAG3):c.-64-97G>C	noncoding	Benign
7	100180604	G	T	G100180604T	STAG3	NM_001282717.2(STAG3):c.48G>T:p.Leu16Phe	coding	Benign
7	100180662	A	C	A100180662C	STAG3	NM_001282717.2(STAG3):c.106A>C:p.Thr36Pro	coding	Benign
7	100180694	T	C	T100180694C	STAG3	NM_001282717.2(STAG3):c.116+22T>C	noncoding	Benign
7	100182659	C	G	C100182659G	STAG3	NM_001282717.2(STAG3):c.220-64C>G	noncoding	Benign
7	100182660	G	A	G100182660A	STAG3	NM_001282717.2(STAG3):c.220-63G>A	noncoding	Benign
7	100186091	G	T	G100186091T	STAG3	NM_001282717.2(STAG3):c.337-109G>T	noncoding	Benign
7	100189196	C	T	C100189196T	STAG3	NM_001282717.2(STAG3):c.715+180C>T	noncoding	Benign
7	100189341	G	T	G100189341T	STAG3	NM_001282717.2(STAG3):c.716-104G>T	noncoding	Benign
7	100189749	A	G	A100189749G	STAG3	NM_001282717.2(STAG3):c.867+153A>G	noncoding	Benign
7	100197176	G	A	G100197176A	STAG3	NM_001282717.2(STAG3):c.962G>A:p.Arg321His	coding	Pathogenic/Likely_pathogenic
7	100197592	C	G	C100197592G	STAG3	NM_001282717.2(STAG3):c.1066-186C>G	noncoding	Benign
7	100197781	C	T	C100197781T	STAG3	NM_001282717.2(STAG3):c.1069C>T:p.Arg357Ter	coding	Pathogenic
7	100198434	A	G	A100198434G	STAG3	NM_001282717.2(STAG3):c.1245-41A>G	noncoding	Benign
7	100198449	T	C	T100198449C	STAG3	NM_001282717.2(STAG3):c.1245-26T>C	noncoding	Benign
7	100198523	A	C	A100198523C	STAG3	NM_001282717.2(STAG3):c.1293A>C:p.Pro431=	coding	Benign
7	100199408	C	G	C100199408G	STAG3	NM_001282717.2(STAG3):c.1573+41C>G	noncoding	Benign
7	100200169	A	G	A100200169G	STAG3	NM_001282717.2(STAG3):c.1678-67A>G	noncoding	Benign
7	100200858	C	A	C100200858A	STAG3	NM_001282717.2(STAG3):c.1950C>A:p.Tyr650Ter	coding	Pathogenic
7	100202042	G	A	G100202042A	STAG3	NM_001282717.2(STAG3):c.2394+1G>A	coding	Pathogenic
7	100202222	T	A	T100202222A	STAG3	NM_001282717.2(STAG3):c.2445T>A:p.Ile815=	coding	Benign
7	100202616	A	T	A100202616T	STAG3	NM_001282717.2(STAG3):c.2700+26A>T	noncoding	Benign
7	100205189	G	C	G100205189C	STAG3	NM_001282717.2(STAG3):c.3081-38G>C	noncoding	Benign
7	100213581	G	C	G100213581C	STAG3	NM_001282717.2(STAG3):c.3601-154G>C	noncoding	Benign
7	100213690	G	A	G100213690A	STAG3	NM_001282717.2(STAG3):c.3601-45G>A	noncoding	Benign
7	100213841	C	G	C100213841G	STAG3	NM_001282717.2(STAG3):c.3672+35C>G	noncoding	Benign
7	100214213	A	T	A100214213T	STAG3	NM_001282717.2(STAG3):c.*198A>T	noncoding	Benign
7	100374211	A	G	A100374211G	PILRA	NM_013439.3(PILRA):c.232A>G:p.Arg78Gly	coding	Benign
7	100626762	C	T	C100626762T	TFR2	NM_003227.4(TFR2):c.2136+1G>A	noncoding	Pathogenic
7	100626807	T	A	T100626807A	TFR2	NM_003227.4(TFR2):c.2092A>T:p.Arg698Ter	coding	Pathogenic
7	100626815	G	T	G100626815T	TFR2	NM_003227.4(TFR2):c.2084C>A:p.Ser695Ter	coding	Pathogenic
7	100626881	C	T	C100626881T	TFR2	NM_003227.4(TFR2):c.2018G>A:p.Trp673Ter	coding	Pathogenic
7	100627321	G	T	G100627321T	TFR2	NM_003227.4(TFR2):c.1938C>A:p.Tyr646Ter	coding	Pathogenic
7	100627492	C	T	C100627492T	TFR2	NM_003227.4(TFR2):c.1768-1G>A	coding	Pathogenic
7	100627570	G	A	G100627570A	TFR2	NM_003227.4(TFR2):c.1767+7C>T	noncoding	Benign
7	100627822	T	C	T100627822C	TFR2	NM_003227.4(TFR2):c.1606-2A>G	noncoding	Pathogenic
7	100629042	C	T	C100629042T	TFR2	NM_003227.4(TFR2):c.1390+211G>A	noncoding	Benign
7	100629565	A	C	A100629565C	TFR2	NM_003227.4(TFR2):c.1271-193T>G	noncoding	Benign
7	100630873	T	C	T100630873C	TFR2	NM_003227.4(TFR2):c.1270+16A>G	noncoding	Benign
7	100632088	A	C	A100632088C	TFR2	NM_003227.4(TFR2):c.960T>G:p.Tyr320Ter	coding	Pathogenic
7	100632186	G	A	G100632186A	TFR2	NM_003227.4(TFR2):c.862C>T:p.Gln288Ter	coding	Pathogenic
7	100633083	A	C	A100633083C	TFR2	NM_003227.4(TFR2):c.767T>G:p.Leu256Arg	coding	Benign
7	100633294	C	A	C100633294A	TFR2	NM_003227.4(TFR2):c.661G>T:p.Gly221Ter	coding	Pathogenic
7	100640674	G	A	G100640674A	TFR2	NM_003227.4(TFR2):c.473+12C>T	noncoding	Benign
7	100641228	G	A	G100641228A	TFR2	NM_003227.4(TFR2):c.34C>T:p.Gln12Ter	coding	Pathogenic
7	100643148	A	T	A100643148T	ACTL6B	NM_016188.5(ACTL6B):c.*98T>A	noncoding	Benign
7	100643278	C	A	C100643278A	ACTL6B	NM_016188.5(ACTL6B):c.1249G>T:p.Gly417Trp	coding	Pathogenic
7	100646272	C	T	C100646272T	ACTL6B	NM_016188.5(ACTL6B):c.1177G>A:p.Gly393Arg	coding	Pathogenic
7	100647015	G	A	G100647015A	ACTL6B	NM_016188.5(ACTL6B):c.892C>T:p.Arg298Ter	coding	Pathogenic
7	100647055	G	A	G100647055A	ACTL6B	NM_016188.5(ACTL6B):c.852C>T:p.Tyr284_Glu285=	coding	Benign
7	100648768	T	G	T100648768G	ACTL6B	NM_016188.5(ACTL6B):c.523A>C:p.Thr175Pro	coding	Pathogenic
7	100650045	G	A	G100650045A	ACTL6B	NM_016188.5(ACTL6B):c.460C>T:p.Leu154Phe	coding	Pathogenic
7	100676751	G	T	G100676751T	GNB2	NM_005273.4(GNB2):c.155G>T:p.Arg52Leu	coding	Pathogenic
7	100677365	G	A	G100677365A	GNB2	NM_005273.4(GNB2):c.217G>A:p.Ala73Thr	coding	Pathogenic/Likely_pathogenic
7	100677413	A	G	A100677413G	GNB2	NM_005273.4(GNB2):c.265A>G:p.Lys89Glu	coding	Pathogenic
7	100677414	A	C	A100677414C	GNB2	NM_005273.4(GNB2):c.266A>C:p.Lys89Thr	coding	Pathogenic
7	100684145	T	C	T100684145C	GIGYF1	NM_001375765.1(GIGYF1):c.1743A>G:p.Pro581=	coding	Benign
7	100687290	C	G	C100687290G	GIGYF1	NM_001375765.1(GIGYF1):c.482+8G>C	noncoding	Benign
7	100687373	C	T	C100687373T	GIGYF1	NM_001375765.1(GIGYF1):c.407G>A:p.Arg136Lys	coding	Benign
7	100722528	C	T	C100722528T	EPO	NM_000799.4(EPO):c.247-136C>T	noncoding	Benign
7	100722598	G	A	G100722598A	EPO	NM_000799.4(EPO):c.247-66G>A	noncoding	Benign
7	100752296	T	C	T100752296C	ZAN	NM_003386.3(ZAN):c.2191T>C:p.Ser731Pro	coding	Benign
7	100752423	T	C	T100752423C	ZAN	NM_003386.3(ZAN):c.2318T>C:p.Leu773Pro	coding	Benign
7	100773794	G	A	G100773794A	ZAN	NM_003386.3(ZAN):c.5708G>A:p.Cys1903Tyr	coding	Benign
7	100791968	C	T	C100791968T	ZAN	NM_003386.3(ZAN):c.7532C>T:p.Ala2511Val	coding	Benign
7	100803470	C	T	C100803470T	EPHB4	NM_004444.5(EPHB4):c.2955G>A:p.Pro985=	coding	Benign/Likely_benign
7	100803494	C	T	C100803494T	EPHB4	NM_004444.5(EPHB4):c.2931G>A:p.Pro977_Gly978=	coding	Benign
7	100803648	T	G	T100803648G	EPHB4	NM_004444.5(EPHB4):c.2835-58A>C	noncoding	Benign
7	100803786	G	C	G100803786C	EPHB4	NM_004444.5(EPHB4):c.2835-196C>G	noncoding	Benign
7	100803811	A	G	A100803811G	EPHB4	NM_004444.5(EPHB4):c.2835-221T>C	noncoding	Benign
7	100803827	G	A	G100803827A	EPHB4	NM_004444.5(EPHB4):c.2835-237C>T	noncoding	Benign
7	100805302	C	G	C100805302G	EPHB4	NM_004444.5(EPHB4):c.2698G>C:p.Asp900His	coding	Benign
7	100805339	G	A	G100805339A	EPHB4	NM_004444.5(EPHB4):c.2679-18C>T	noncoding	Benign
7	100805579	A	G	A100805579G	EPHB4	NM_004444.5(EPHB4):c.2600T>C:p.Phe867Ser	coding	Pathogenic
7	100805807	A	G	A100805807G	EPHB4	NM_004444.5(EPHB4):c.2485-113T>C	noncoding	Benign
7	100806409	G	A	G100806409A	EPHB4	NM_004444.5(EPHB4):c.2484+11C>T	noncoding	Benign
7	100807412	G	A	G100807412A	EPHB4	NM_004444.5(EPHB4):c.2287C>T:p.Arg763Ter	coding	Pathogenic
7	100807466	T	C	T100807466C	EPHB4	NM_004444.5(EPHB4):c.2233A>G:p.Asn745Asp	coding	Pathogenic/Likely_pathogenic
7	100807484	G	A	G100807484A	EPHB4	NM_004444.5(EPHB4):c.2215C>T:p.Arg739Ter	coding	Pathogenic
7	100812854	A	G	A100812854G	EPHB4	NM_004444.5(EPHB4):c.2011T>C:p.Phe671Leu	coding	Pathogenic
7	100813035	A	G	A100813035G	EPHB4	NM_004444.5(EPHB4):c.1871-41T>C	noncoding	Benign
7	100813750	T	C	T100813750C	EPHB4	NM_004444.5(EPHB4):c.1692-34A>G	noncoding	Benign
7	100814001	G	A	G100814001A	EPHB4	NM_004444.5(EPHB4):c.1609C>T:p.Gln537Ter	coding	Pathogenic
7	100814017	G	A	G100814017A	EPHB4	NM_004444.5(EPHB4):c.1593C>T:p.Ser531=	coding	Benign
7	100814066	T	C	T100814066C	EPHB4	NM_004444.5(EPHB4):c.1589-45A>G	noncoding	Benign
7	100814253	G	A	G100814253A	EPHB4	NM_004444.5(EPHB4):c.1589-232C>T	noncoding	Benign
7	100817126	T	G	T100817126G	EPHB4	NM_004444.5(EPHB4):c.1588+66A>C	noncoding	Benign
7	100817165	C	T	C100817165T	EPHB4	NM_004444.5(EPHB4):c.1588+27G>A	noncoding	Benign
7	100817363	C	T	C100817363T	EPHB4	NM_004444.5(EPHB4):c.1423-6G>A	noncoding	Pathogenic/Likely_pathogenic
7	100817372	T	C	T100817372C	EPHB4	NM_004444.5(EPHB4):c.1423-15A>G	noncoding	Benign
7	100817530	T	A	T100817530A	EPHB4	NM_004444.5(EPHB4):c.1423-173A>T	noncoding	Benign
7	100818430	A	G	A100818430G	EPHB4	NM_004444.5(EPHB4):c.1422+90T>C	noncoding	Benign
7	100819389	C	A	C100819389A	EPHB4	NM_004444.5(EPHB4):c.1297+168G>T	noncoding	Benign
7	100819563	G	A	G100819563A	EPHB4	NM_004444.5(EPHB4):c.1291C>T:p.Arg431Ter	coding	Pathogenic
7	100819711	G	A	G100819711A	EPHB4	NM_004444.5(EPHB4):c.1143C>T:p.Pro381=	coding	Benign
7	100819761	G	A	G100819761A	EPHB4	NM_004444.5(EPHB4):c.1093C>T:p.Arg365Ter	coding	Pathogenic
7	100819837	C	A	C100819837A	EPHB4	NM_004444.5(EPHB4):c.1017G>T:p.Leu339=	coding	Benign/Likely_benign
7	100820187	G	A	G100820187A	EPHB4	NM_004444.5(EPHB4):c.918C>T:p.Val306=	coding	Benign/Likely_benign
7	100820266	G	C	G100820266C	EPHB4	NM_004444.5(EPHB4):c.839C>G:p.Ser280Ter	coding	Pathogenic
7	100822274	G	A	G100822274A	EPHB4	NM_004444.5(EPHB4):c.805C>T:p.Arg269Ter	coding	Pathogenic
7	100822463	G	A	G100822463A	EPHB4	NM_004444.5(EPHB4):c.616C>T:p.Arg206Ter	coding	Pathogenic
7	100822497	G	T	G100822497T	EPHB4	NM_004444.5(EPHB4):c.582C>A:p.Tyr194Ter	coding	Pathogenic
7	100823479	G	A	G100823479A	EPHB4	NM_004444.5(EPHB4):c.411+165C>T	noncoding	Benign
7	100823689	C	T	C100823689T	EPHB4	NM_004444.5(EPHB4):c.366G>A:p.Thr122=	coding	Benign/Likely_benign
7	100823865	G	A	G100823865A	EPHB4	NM_004444.5(EPHB4):c.190C>T:p.Gln64Ter	coding	Pathogenic
7	100823881	G	T	G100823881T	EPHB4	NM_004444.5(EPHB4):c.174C>A:p.Tyr58Ter	coding	Pathogenic
7	100824043	C	T	C100824043T	EPHB4	NM_004444.5(EPHB4):c.124-112G>A	noncoding	Benign
7	100824159	C	T	C100824159T	EPHB4	NM_004444.5(EPHB4):c.123+44G>A	noncoding	Benign
7	100824205	G	A	G100824205A	EPHB4	NM_004444.5(EPHB4):c.121C>T:p.Gln41Ter	coding	Pathogenic
7	100827030	T	C	T100827030C	EPHB4	NM_004444.5(EPHB4):c.1A>G:p.Met1Val	coding	Pathogenic
7	100827154	C	G	C100827154G	EPHB4	NM_004444.5(EPHB4):c.-124G>C	noncoding	Benign
7	100884405	T	C	T100884405C	SRRT	NM_015908.6(SRRT):c.795T>C:p.Leu265=	coding	Benign
7	100884905	C	G	C100884905G	SRRT	NM_015908.6(SRRT):c.1042-18C>G	noncoding	Benign
7	101035246	G	T	G101035246T	MUC17	NM_001040105.2(MUC17):c.3830G>T:p.Ser1277Ile	coding	Benign
7	101130178	T	C	T101130178C	SERPINE1	NM_000602.5(SERPINE1):c.272-243T>C	noncoding	Benign
7	101133650	G	A	G101133650A	SERPINE1	NM_000602.5(SERPINE1):c.701-45G>A	noncoding	Benign
7	101133986	T	C	T101133986C	SERPINE1	NM_000602.5(SERPINE1):c.899+93T>C	noncoding	Benign
7	101136895	A	G	A101136895G	SERPINE1	NM_000602.5(SERPINE1):c.1088-106A>G	noncoding	Benign
7	101154351	G	A	G101154351A	AP1S1	Single_allele	noncoding	Benign
7	101156292	A	G	A101156292G	AP1S1	NM_001283.5(AP1S1):c.4-302A>G	noncoding	Benign
7	101156583	A	G	A101156583G	AP1S1	NM_001283.5(AP1S1):c.4-11A>G	noncoding	Benign
7	101156743	G	A	G101156743A	AP1S1	NM_001283.5(AP1S1):c.153G>A:p.Glu51=	coding	Benign
7	101156850	T	C	T101156850C	AP1S1	NM_001283.5(AP1S1):c.182+78T>C	noncoding	Benign
7	101157024	C	T	C101157024T	AP1S1	NM_001283.5(AP1S1):c.182+252C>T	noncoding	Benign
7	101157354	G	A	G101157354A	AP1S1	NM_001283.5(AP1S1):c.183-23G>A	noncoding	Benign
7	101158859	T	C	T101158859C	AP1S1	NM_001283.5(AP1S1):c.292-200T>C	noncoding	Benign
7	101159035	C	T	C101159035T	AP1S1	NM_001283.5(AP1S1):c.292-24C>T	noncoding	Benign
7	101159505	A	G	A101159505G	AP1S1	NM_001283.5(AP1S1):c.429+309A>G	coding	Benign
7	101160209	C	A	C101160209A	AP1S1	NM_001283.5(AP1S1):c.430-310C>A	noncoding	Benign
7	101160333	C	T	C101160333T	AP1S1	NM_001283.5(AP1S1):c.430-186C>T	noncoding	Benign
7	101160408	C	T	C101160408T	AP1S1	NM_001283.5(AP1S1):c.430-111C>T	noncoding	Benign
7	101160429	C	T	C101160429T	AP1S1	NM_001283.5(AP1S1):c.430-90C>T	noncoding	Benign
7	101160448	A	G	A101160448G	AP1S1	NM_001283.5(AP1S1):c.430-71A>G	noncoding	Benign
7	101160859	C	T	C101160859T	AP1S1	NM_001283.5(AP1S1):c.*293C>T	noncoding	Benign
7	101206523	G	A	G101206523A	PLOD3	NM_001084.5(PLOD3):c.2062-87C>T	noncoding	Benign
7	101206729	C	A	C101206729A	PLOD3	NM_001084.5(PLOD3):c.2061+50G>T	noncoding	Benign
7	101206767	A	G	A101206767G	PLOD3	NM_001084.5(PLOD3):c.2061+12T>C	noncoding	Benign
7	101206772	G	T	G101206772T	PLOD3	NM_001084.5(PLOD3):c.2061+7C>A	noncoding	Benign
7	101206778	C	T	C101206778T	PLOD3	NM_001084.5(PLOD3):c.2061+1G>A	noncoding	Pathogenic
7	101207378	A	G	A101207378G	PLOD3	NM_001084.5(PLOD3):c.1935+200T>C	noncoding	Benign
7	101207527	C	T	C101207527T	PLOD3	NM_001084.5(PLOD3):c.1935+51G>A	noncoding	Benign
7	101207627	G	A	G101207627A	PLOD3	NM_001084.5(PLOD3):c.1886C>T:p.Thr629Met	coding	Benign
7	101207963	G	A	G101207963A	PLOD3	NM_001084.5(PLOD3):c.1789-239C>T	noncoding	Benign
7	101208803	T	C	T101208803C	PLOD3	NM_001084.5(PLOD3):c.1788+50A>G	noncoding	Benign
7	101208804	G	A	G101208804A	PLOD3	NM_001084.5(PLOD3):c.1788+49C>T	noncoding	Benign
7	101208865	G	A	G101208865A	PLOD3	NM_001084.5(PLOD3):c.1776C>T:p.Gly592=	coding	Benign
7	101208970	C	T	C101208970T	PLOD3	NM_001084.5(PLOD3):c.1684-13G>A	noncoding	Benign
7	101209892	T	C	T101209892C	PLOD3	NM_001084.5(PLOD3):c.1683+201A>G	noncoding	Benign
7	101209950	C	T	C101209950T	PLOD3	NM_001084.5(PLOD3):c.1683+143G>A	noncoding	Benign
7	101210433	G	A	G101210433A	PLOD3	NM_001084.5(PLOD3):c.1512C>T:p.Leu504=	coding	Benign
7	101210515	C	T	C101210515T	PLOD3	NM_001084.5(PLOD3):c.1500+17G>A	noncoding	Benign
7	101210526	G	A	G101210526A	PLOD3	NM_001084.5(PLOD3):c.1500+6C>T	noncoding	Benign
7	101211750	G	C	G101211750C	PLOD3	NM_001084.5(PLOD3):c.1233-34C>G	noncoding	Benign
7	101211826	G	A	G101211826A	PLOD3	NM_001084.5(PLOD3):c.1232+20C>T	noncoding	Benign
7	101212082	G	C	G101212082C	PLOD3	NM_001084.5(PLOD3):c.1128-132C>G	noncoding	Benign
7	101212542	G	A	G101212542A	PLOD3	NM_001084.5(PLOD3):c.993C>T:p.Phe331=	coding	Benign
7	101212596	G	A	G101212596A	PLOD3	NM_001084.5(PLOD3):c.939C>T:p.Arg313=	coding	Benign
7	101212671	C	T	C101212671T	PLOD3	NM_001084.5(PLOD3):c.880-16G>A	noncoding	Benign
7	101212909	T	C	T101212909C	PLOD3	NM_001084.5(PLOD3):c.812A>G:p.Asn271Ser	coding	Benign
7	101215012	C	T	C101215012T	PLOD3	NM_001084.5(PLOD3):c.679+77G>A	noncoding	Benign
7	101215070	C	T	C101215070T	PLOD3	NM_001084.5(PLOD3):c.679+19G>A	noncoding	Benign
7	101215169	G	A	G101215169A	PLOD3	NM_001084.5(PLOD3):c.616-17C>T	noncoding	Benign
7	101216031	G	A	G101216031A	PLOD3	NM_001084.5(PLOD3):c.503-11C>T	noncoding	Benign
7	101216675	G	A	G101216675A	PLOD3	NM_001084.5(PLOD3):c.201+20C>T	noncoding	Benign
7	101217120	C	T	C101217120T	PLOD3	NM_001084.5(PLOD3):c.109+46G>A	noncoding	Benign
7	101217355	T	C	T101217355C	PLOD3	NM_001084.5(PLOD3):c.-81A>G	noncoding	Benign
7	101217932	T	C	T101217932C	PLOD3	Single_allele	noncoding	Benign
7	101218171	T	C	T101218171C	ZNHIT1	NM_006349.3(ZNHIT1):c.-25T>C	noncoding	Benign
7	102070310	T	C	T102070310C	CUX1	NM_181552.4(CUX1):c.190-29T>C	noncoding	Benign
7	102097326	T	G	T102097326G	CUX1	NM_181552.4(CUX1):c.269-38T>G	noncoding	Benign
7	102097330	C	A	C102097330A	CUX1	NM_181552.4(CUX1):c.269-34C>A	noncoding	Benign
7	102111780	A	G	A102111780G	CUX1	NM_181552.4(CUX1):c.607+6A>G	noncoding	Benign
7	102115284	C	T	C102115284T	CUX1	NM_181552.4(CUX1):c.674+11C>T	noncoding	Benign
7	102115304	G	A	G102115304A	CUX1	NM_181552.4(CUX1):c.674+31G>A	noncoding	Benign
7	102193869	G	A	G102193869A	CUX1	NM_181552.4(CUX1):c.1104G>A:p.Pro368=	coding	Benign
7	102197098	C	T	C102197098T	CUX1	NM_181552.4(CUX1):c.1687C>T:p.Gln563Ter	coding	Pathogenic
7	102197245	C	T	C102197245T	CUX1	NM_181552.4(CUX1):c.1834C>T:p.Gln612Ter	coding	Pathogenic
7	102201571	A	G	A102201571G	CUX1	NM_181552.4(CUX1):c.2274A>G:p.Pro758=	coding	Benign
7	102204469	C	T	C102204469T	CUX1	NM_181552.4(CUX1):c.2986C>T:p.Arg996Ter	coding	Pathogenic
7	102248627	G	A	G102248627A	CUX1	NM_181552.4(CUX1):c.4103G>A:p.Arg1368Gln	coding	Benign
7	102248841	G	A	G102248841A	CUX1	NM_181552.4(CUX1):c.4317G>A:p.Pro1439=	coding	Benign
7	102248949	C	A	C102248949A	CUX1	NM_181552.4(CUX1):c.4425C>A:p.Pro1475_Leu1476=	coding	Benign
7	102274250	G	A	G102274250A	CUX1	NM_001913.5(CUX1):c.1390G>A:p.Ala464Thr	coding	Benign
7	102278021	A	C	A102278021C	CUX1	NM_001913.5(CUX1):c.1636A>C:p.Lys546Gln	coding	Benign
7	102605864	T	C	T102605864C	RASA4	NM_006989.6(RASA4):c.422A>G:p.Glu141Gly	coding	Benign
7	102605947	A	G	A102605947G	RASA4	NM_006989.6(RASA4):c.339T>C:p.Asp113=	coding	Benign
7	103297313	A	G	A103297313G	PMPCB	Single_allele	noncoding	Benign
7	103297437	C	T	C103297437T	PMPCB	NM_004279.3(PMPCB):c.-23C>T	noncoding	Benign
7	103297467	C	T	C103297467T	PMPCB	NM_004279.3(PMPCB):c.8C>T:p.Ala3Val	coding	Benign/Likely_benign
7	103297673	C	T	C103297673T	PMPCB	NM_004279.3(PMPCB):c.99+115C>T	noncoding	Benign
7	103298572	T	C	T103298572C	PMPCB	NM_004279.3(PMPCB):c.104T>C:p.Leu35Ser	coding	Benign
7	103299440	A	G	A103299440G	PMPCB	NM_004279.3(PMPCB):c.241-3A>G	noncoding	Benign
7	103300135	T	C	T103300135C	PMPCB	NM_004279.3(PMPCB):c.328-43T>C	noncoding	Benign
7	103307593	T	C	T103307593C	PMPCB	NM_004279.3(PMPCB):c.737-3T>C	noncoding	Benign
7	103309037	G	A	G103309037A	PMPCB	NM_004279.3(PMPCB):c.935G>A:p.Cys312Tyr	coding	Benign
7	103310270	G	A	G103310270A	PMPCB	NM_004279.3(PMPCB):c.994-45G>A	noncoding	Benign
7	103310486	T	C	T103310486C	PMPCB	NM_004279.3(PMPCB):c.1154+11T>C	noncoding	Benign
7	103311472	T	C	T103311472C	PMPCB	NM_004279.3(PMPCB):c.1155-171T>C	noncoding	Benign
7	103311676	G	T	G103311676T	PMPCB	NM_004279.3(PMPCB):c.1188G>T:p.Glu396Asp	coding	Benign
7	103311900	A	G	A103311900G	PMPCB	NM_004279.3(PMPCB):c.1329+4A>G	noncoding	Benign
7	103374133	A	G	A103374133G	SLC26A5	NM_206883.3(SLC26A5):c.2041+2675T>C	noncoding	Benign
7	103374450	A	C	A103374450C	SLC26A5	NM_198999.3(SLC26A5):c.2184T>G:p.Pro728=	coding	Benign
7	103374597	T	C	T103374597C	SLC26A5	NM_198999.3(SLC26A5):c.2042-5A>G	noncoding	Benign/Likely_benign
7	103376576	C	T	C103376576T	SLC26A5	NM_198999.3(SLC26A5):c.2041+232G>A	noncoding	Benign
7	103376701	A	G	A103376701G	SLC26A5	NM_198999.3(SLC26A5):c.2041+107T>C	noncoding	Benign
7	103377569	A	G	A103377569G	SLC26A5	NM_198999.3(SLC26A5):c.1986+30T>C	noncoding	Benign
7	103378876	C	G	C103378876G	SLC26A5	NM_198999.3(SLC26A5):c.1678-323G>C	noncoding	Benign
7	103379166	A	G	A103379166G	SLC26A5	NM_198999.3(SLC26A5):c.1677+77T>C	noncoding	Benign
7	103388821	T	C	T103388821C	SLC26A5	NM_198999.3(SLC26A5):c.1514+187A>G	noncoding	Benign
7	103389468	A	G	A103389468G	SLC26A5	NM_198999.3(SLC26A5):c.1312-44T>C	noncoding	Benign
7	103389473	G	A	G103389473A	SLC26A5	NM_198999.3(SLC26A5):c.1312-49C>T	noncoding	Benign
7	103389500	C	T	C103389500T	SLC26A5	NM_198999.3(SLC26A5):c.1312-76G>A	noncoding	Benign
7	103390134	C	T	C103390134T	SLC26A5	NM_198999.3(SLC26A5):c.1311+295G>A	noncoding	Benign
7	103390217	C	G	C103390217G	SLC26A5	NM_198999.3(SLC26A5):c.1311+212G>C	noncoding	Benign
7	103390724	T	C	T103390724C	SLC26A5	NM_198999.3(SLC26A5):c.1234-218A>G	noncoding	Benign
7	103391330	T	C	T103391330C	SLC26A5	NM_198999.3(SLC26A5):c.1233+292A>G	noncoding	Benign
7	103391479	C	T	C103391479T	SLC26A5	NM_198999.3(SLC26A5):c.1233+143G>A	noncoding	Benign
7	103391608	T	C	T103391608C	SLC26A5	NM_198999.3(SLC26A5):c.1233+14A>G	noncoding	Benign/Likely_benign
7	103391992	C	T	C103391992T	SLC26A5	NM_198999.3(SLC26A5):c.1120-257G>A	noncoding	Benign
7	103393126	T	C	T103393126C	SLC26A5	NM_198999.3(SLC26A5):c.972-60A>G	noncoding	Benign
7	103393310	G	A	G103393310A	SLC26A5	NM_198999.3(SLC26A5):c.972-244C>T	noncoding	Benign
7	103398099	G	C	G103398099C	SLC26A5	NM_198999.3(SLC26A5):c.889-85C>G	noncoding	Benign
7	103408276	C	G	C103408276G	SLC26A5	NM_198999.3(SLC26A5):c.736-273G>C	noncoding	Benign
7	103410082	T	C	T103410082C	SLC26A5	NM_198999.3(SLC26A5):c.735+303A>G	noncoding	Benign
7	103411334	G	A	G103411334A	SLC26A5	NM_198999.3(SLC26A5):c.570+86C>T	noncoding	Benign
7	103412851	G	A	G103412851A	SLC26A5	NM_198999.3(SLC26A5):c.403+151C>T	noncoding	Benign
7	103413430	C	T	C103413430T	SLC26A5	NM_198999.3(SLC26A5):c.293-318G>A	noncoding	Benign
7	103421437	C	T	C103421437T	SLC26A5	NM_198999.3(SLC26A5):c.78G>A:p.Pro26=	coding	Benign/Likely_benign
7	103421527	T	G	T103421527G	SLC26A5	NM_198999.3(SLC26A5):c.-13A>C	noncoding	Benign/Likely_benign
7	103478106	C	T	C103478106T	RELN	NM_005045.4(RELN):c.10286+283G>A	noncoding	Benign
7	103483153	C	G	C103483153G	RELN	NM_005045.4(RELN):c.10182-182G>C	noncoding	Benign
7	103483544	T	C	T103483544C	RELN	NM_005045.4(RELN):c.10181+109A>G	noncoding	Benign
7	103486011	T	C	T103486011C	RELN	NM_005045.4(RELN):c.9983+186A>G	noncoding	Benign
7	103486451	G	C	G103486451C	RELN	NM_005045.4(RELN):c.9764-35C>G	noncoding	Benign
7	103489956	A	G	A103489956G	RELN	NM_005045.4(RELN):c.9606-57T>C	noncoding	Benign
7	103490839	C	A	C103490839A	RELN	NM_005045.4(RELN):c.9444-10G>T	noncoding	Benign
7	103492333	A	G	A103492333G	RELN	NM_005045.4(RELN):c.9370-307T>C	noncoding	Benign
7	103495655	C	A	C103495655A	RELN	NM_005045.4(RELN):c.9369+68G>T	noncoding	Benign
7	103496074	T	A	T103496074A	RELN	NM_005045.4(RELN):c.9194-176A>T	noncoding	Benign
7	103496667	G	A	G103496667A	RELN	NM_005045.4(RELN):c.9052C>T:p.Arg3018Ter	coding	Pathogenic
7	103496812	C	G	C103496812G	RELN	NM_005045.4(RELN):c.8951-44G>C	noncoding	Benign
7	103496897	C	T	C103496897T	RELN	NM_005045.4(RELN):c.8951-129G>A	noncoding	Benign
7	103497630	C	G	C103497630G	RELN	NM_005045.4(RELN):c.8950+190G>C	noncoding	Benign
7	103497946	A	G	A103497946G	RELN	NM_005045.4(RELN):c.8844-20T>C	noncoding	Benign
7	103500720	G	T	G103500720T	RELN	NM_005045.4(RELN):c.8667+25C>A	noncoding	Benign
7	103500990	A	G	A103500990G	RELN	NM_005045.4(RELN):c.8490-68T>C	noncoding	Benign
7	103501096	C	T	C103501096T	RELN	NM_005045.4(RELN):c.8490-174G>A	noncoding	Benign
7	103502797	A	G	A103502797G	RELN	NM_005045.4(RELN):c.8489+219T>C	noncoding	Benign
7	103503249	A	G	A103503249G	RELN	NM_005045.4(RELN):c.8275-19T>C	noncoding	Benign
7	103503284	C	T	C103503284T	RELN	NM_005045.4(RELN):c.8275-54G>A	noncoding	Benign
7	103503476	C	T	C103503476T	RELN	NM_005045.4(RELN):c.8275-246G>A	noncoding	Benign
7	103511026	T	G	T103511026G	RELN	NM_005045.4(RELN):c.8120-21A>C	noncoding	Benign/Likely_benign
7	103511164	A	G	A103511164G	RELN	NM_005045.4(RELN):c.8120-159T>C	noncoding	Benign
7	103515068	C	T	C103515068T	RELN	NM_005045.4(RELN):c.8119+117G>A	noncoding	Benign
7	103515257	C	A	C103515257A	RELN	NM_005045.4(RELN):c.8047G>T:p.Glu2683Ter	coding	Pathogenic
7	103515485	C	T	C103515485T	RELN	NM_005045.4(RELN):c.7863-44G>A	noncoding	Benign
7	103515497	C	G	C103515497G	RELN	NM_005045.4(RELN):c.7863-56G>C	noncoding	Benign
7	103515530	A	C	A103515530C	RELN	NM_005045.4(RELN):c.7863-89T>G	noncoding	Benign
7	103515582	A	G	A103515582G	RELN	NM_005045.4(RELN):c.7863-141T>C	noncoding	Benign
7	103519124	G	C	G103519124C	RELN	NM_005045.4(RELN):c.7862+199C>G	noncoding	Benign
7	103519186	A	G	A103519186G	RELN	NM_005045.4(RELN):c.7862+137T>C	noncoding	Benign
7	103521777	C	T	C103521777T	RELN	NM_005045.4(RELN):c.7668+245G>A	noncoding	Benign
7	103522275	A	G	A103522275G	RELN	NM_005045.4(RELN):c.7491-76T>C	noncoding	Benign
7	103523546	A	G	A103523546G	RELN	NM_005045.4(RELN):c.7350-15T>C	noncoding	Benign
7	103535106	C	T	C103535106T	RELN	NM_005045.4(RELN):c.7349+210G>A	noncoding	Benign
7	103535666	C	T	C103535666T	RELN	NM_005045.4(RELN):c.7181-182G>A	noncoding	Benign
7	103539591	C	T	C103539591T	RELN	NM_005045.4(RELN):c.6931-264G>A	noncoding	Benign
7	103540471	G	A	G103540471A	RELN	NM_005045.4(RELN):c.6672-16C>T	noncoding	Benign
7	103540569	C	T	C103540569T	RELN	NM_005045.4(RELN):c.6672-114G>A	noncoding	Benign
7	103544834	T	C	T103544834C	RELN	NM_005045.4(RELN):c.6523+290A>G	noncoding	Benign
7	103545552	G	A	G103545552A	RELN	NM_005045.4(RELN):c.6303-208C>T	noncoding	Benign
7	103550992	T	A	T103550992A	RELN	NM_005045.4(RELN):c.6302+75A>T	noncoding	Benign
7	103551003	C	T	C103551003T	RELN	NM_005045.4(RELN):c.6302+64G>A	noncoding	Benign
7	103557171	A	G	A103557171G	RELN	NM_005045.4(RELN):c.5615-12T>C	noncoding	Benign
7	103558050	C	T	C103558050T	RELN	NM_005045.4(RELN):c.5530-1G>A	coding	Pathogenic
7	103562149	T	C	T103562149C	RELN	NM_005045.4(RELN):c.5211-196A>G	noncoding	Benign
7	103562235	C	T	C103562235T	RELN	NM_005045.4(RELN):c.5211-282G>A	noncoding	Benign
7	103566709	G	A	G103566709A	RELN	NM_005045.4(RELN):c.4639C>T:p.Arg1547Ter	coding	Pathogenic
7	103567064	T	G	T103567064G	RELN	NM_005045.4(RELN):c.4589-305A>C	noncoding	Benign
7	103574093	T	A	T103574093A	RELN	NM_005045.4(RELN):c.4510A>T:p.Arg1504Ter	coding	Pathogenic
7	103589577	T	C	T103589577C	RELN	NM_005045.4(RELN):c.4145+19A>G	noncoding	Benign/Likely_benign
7	103590150	C	G	C103590150G	RELN	NM_005045.4(RELN):c.3913-322G>C	noncoding	Benign
7	103593723	G	A	G103593723A	RELN	NM_005045.4(RELN):c.3871C>T:p.Arg1291Ter	coding	Pathogenic
7	103594201	A	G	A103594201G	RELN	NM_005045.4(RELN):c.3711+120T>C	noncoding	Benign
7	103594750	T	C	T103594750C	RELN	NM_005045.4(RELN):c.3540-258A>G	noncoding	Benign
7	103596305	T	C	T103596305C	RELN	NM_005045.4(RELN):c.3539+151A>G	noncoding	Benign
7	103596500	C	T	C103596500T	RELN	NM_005045.4(RELN):c.3495G>A:p.Trp1165Ter	coding	Pathogenic
7	103596518	G	T	G103596518T	RELN	NM_005045.4(RELN):c.3477C>A:p.Asn1159Lys	coding	Benign/Likely_benign
7	103596617	C	T	C103596617T	RELN	NM_005045.4(RELN):c.3378G>A:p.Trp1126Ter	coding	Pathogenic
7	103604680	C	A	C103604680A	RELN	NM_005045.4(RELN):c.3009-197G>T	noncoding	Benign
7	103610684	T	C	T103610684C	RELN	NM_005045.4(RELN):c.3008+11A>G	noncoding	Benign/Likely_benign
7	103611416	A	C	A103611416C	RELN	NM_005045.4(RELN):c.2895+195T>G	noncoding	Benign
7	103611638	G	A	G103611638A	RELN	NM_005045.4(RELN):c.2868C>T:p.His956=	coding	Benign/Likely_benign
7	103611995	A	T	A103611995T	RELN	NM_005045.4(RELN):c.2703-192T>A	noncoding	Benign
7	103635880	A	G	A103635880G	RELN	NM_005045.4(RELN):c.2304-294T>C	noncoding	Benign
7	103636219	C	A	C103636219A	RELN	NM_005045.4(RELN):c.2303+16G>T	noncoding	Benign/Likely_benign
7	103651474	C	A	C103651474A	RELN	NM_005045.4(RELN):c.1892+187G>T	noncoding	Benign
7	103651997	C	T	C103651997T	RELN	NM_005045.4(RELN):c.1764-208G>A	noncoding	Benign
7	103652264	T	C	T103652264C	RELN	NM_005045.4(RELN):c.1763+287A>G	noncoding	Benign
7	103652478	C	A	C103652478A	RELN	NM_005045.4(RELN):c.1763+73G>T	noncoding	Benign
7	103653970	G	A	G103653970A	RELN	NM_005045.4(RELN):c.1554+123C>T	noncoding	Benign
7	103654030	T	C	T103654030C	RELN	NM_005045.4(RELN):c.1554+63A>G	noncoding	Benign
7	103661670	C	T	C103661670T	RELN	NM_005045.4(RELN):c.1290-143G>A	noncoding	Benign
7	103682011	T	C	T103682011C	RELN	NM_005045.4(RELN):c.1289+105A>G	noncoding	Benign
7	103697594	G	T	G103697594T	RELN	NM_005045.4(RELN):c.1143+259C>A	noncoding	Benign
7	103697608	G	A	G103697608A	RELN	NM_005045.4(RELN):c.1143+245C>T	noncoding	Benign
7	103697613	G	T	G103697613T	RELN	NM_005045.4(RELN):c.1143+240C>A	noncoding	Benign
7	103697678	A	G	A103697678G	RELN	NM_005045.4(RELN):c.1143+175T>C	noncoding	Benign
7	103698229	A	G	A103698229G	RELN	NM_005045.4(RELN):c.903-136T>C	noncoding	Benign
7	103701244	G	A	G103701244A	RELN	NM_005045.4(RELN):c.806-238C>T	noncoding	Benign
7	103701290	T	C	T103701290C	RELN	NM_005045.4(RELN):c.806-284A>G	noncoding	Benign
7	103722955	G	A	G103722955A	RELN	NM_005045.4(RELN):c.805+185C>T	noncoding	Benign
7	103727905	T	C	T103727905C	RELN	NM_005045.4(RELN):c.753+206A>G	noncoding	Benign
7	103727998	T	C	T103727998C	RELN	NM_005045.4(RELN):c.753+113A>G	noncoding	Benign
7	103728035	A	G	A103728035G	RELN	NM_005045.4(RELN):c.753+76T>C	noncoding	Benign
7	103749266	T	C	T103749266C	RELN	NM_005045.4(RELN):c.656+160A>G	noncoding	Benign
7	103753326	T	C	T103753326C	RELN	NM_005045.4(RELN):c.545-112A>G	noncoding	Benign
7	103776687	G	T	G103776687T	RELN	NM_005045.4(RELN):c.474-60C>A	noncoding	Benign
7	103776692	A	C	A103776692C	RELN	NM_005045.4(RELN):c.474-65T>G	noncoding	Benign
7	103917371	T	G	T103917371G	RELN	NM_005045.4(RELN):c.227-186A>C	noncoding	Benign
7	105062147	C	G	C105062147G	KMT2E	NM_182931.3(KMT2E):c.72-17C>G	noncoding	Benign
7	105073612	A	G	A105073612G	KMT2E	NM_182931.3(KMT2E):c.498-7A>G	noncoding	Benign
7	105073650	C	T	C105073650T	KMT2E	NM_182931.3(KMT2E):c.529C>T:p.Gln177Ter	coding	Pathogenic
7	105077070	C	T	C105077070T	KMT2E	NM_182931.3(KMT2E):c.876C>T:p.Tyr292=	coding	Benign
7	105101607	C	T	C105101607T	KMT2E	NM_182931.3(KMT2E):c.1887+18C>T	noncoding	Benign
7	105106647	C	T	C105106647T	KMT2E	NM_182931.3(KMT2E):c.2722C>T:p.Pro908Ser	coding	Benign
7	105107452	G	T	G105107452T	KMT2E	NM_182931.3(KMT2E):c.2995G>T:p.Gly999Cys	coding	Benign
7	105107491	C	T	C105107491T	KMT2E	NM_182931.3(KMT2E):c.3034C>T:p.Gln1012Ter	coding	Pathogenic
7	105107796	A	C	A105107796C	KMT2E	NM_182931.3(KMT2E):c.3339A>C:p.Arg1113Ser	coding	Benign
7	105107944	T	C	T105107944C	KMT2E	NM_182931.3(KMT2E):c.3468+19T>C	noncoding	Benign
7	105109235	C	T	C105109235T	KMT2E	NM_182931.3(KMT2E):c.3755+7C>T	noncoding	Benign
7	105110540	C	G	C105110540G	KMT2E	NM_182931.3(KMT2E):c.3908C>G:p.Ser1303Ter	coding	Pathogenic
7	105112351	G	A	G105112351A	KMT2E	NM_182931.3(KMT2E):c.4595G>A:p.Ser1532Asn	coding	Benign
7	105495098	T	C	T105495098C	PUS7	NM_019042.5(PUS7):c.842+44A>G	noncoding	Benign
7	105505912	C	G	C105505912G	PUS7	NM_019042.5(PUS7):c.585+43G>C	noncoding	Benign
7	105563931	T	C	T105563931C	RINT1	NM_021930.6(RINT1):c.1870T>C:p.Leu624=	coding	Benign/Likely_benign
7	105565508	T	C	T105565508C	RINT1	NM_021930.6(RINT1):c.2068-22T>C	noncoding	Benign
7	105567208	C	T	C105567208T	RINT1	NM_021930.6(RINT1):c.2276C>T:p.Pro759Leu	coding	Benign
7	106018075	G	A	G106018075A	CDHR3	NM_152750.5(CDHR3):c.1653+3G>A	noncoding	Pathogenic
7	106867706	C	A	C106867706A	PIK3CG	NM_001282426.2(PIK3CG):c.145C>A:p.Arg49Ser	coding	Pathogenic
7	106868886	C	A	C106868886A	PIK3CG	NM_001282426.2(PIK3CG):c.1325C>A:p.Ser442Tyr	coding	Benign
7	106869126	A	G	A106869126G	PIK3CG	NM_001282426.2(PIK3CG):c.1565A>G:p.Asn522Ser	coding	Benign
7	106905140	G	C	G106905140C	PIK3CG	NM_001282426.2(PIK3CG):c.3062G>C:p.Arg1021Pro	coding	Pathogenic
7	106905332	A	G	A106905332G	PIK3CG	NM_001282426.2(PIK3CG):c.3254A>G:p.Asn1085Ser	coding	Pathogenic
7	107169848	G	C	G107169848C	HBP1	NM_012257.4(HBP1):c.-16+663G>C	noncoding	Benign
7	107203836	T	C	T107203836C	COG5	NM_006348.5(COG5):c.2376-206A>G	noncoding	Benign
7	107210310	T	G	T107210310G	COG5	NM_006348.5(COG5):c.2375+216A>C	coding	Benign
7	107210493	C	A	C107210493A	COG5	NM_006348.5(COG5):c.2375+33G>T	coding	Benign
7	107211131	T	A	T107211131A	COG5	NM_006348.5(COG5):c.2263A>T:p.Arg755Ter	coding	Pathogenic
7	107211309	T	C	T107211309C	COG5	NM_006348.5(COG5):c.2169-84A>G	noncoding	Benign
7	107211494	A	T	A107211494T	COG5	NM_006348.5(COG5):c.2169-269T>A	noncoding	Benign
7	107230661	G	A	G107230661A	COG5	NM_006348.5(COG5):c.2122C>T:p.Arg708Ter	coding	Pathogenic
7	107236199	T	G	T107236199G	COG5	NM_006348.5(COG5):c.2091+251A>C	noncoding	Benign
7	107236398	G	C	G107236398C	COG5	NM_006348.5(COG5):c.2091+52C>G	noncoding	Benign
7	107236769	C	A	C107236769A	COG5	NM_006348.5(COG5):c.1854-82G>T	noncoding	Benign
7	107236771	G	A	G107236771A	COG5	NM_006348.5(COG5):c.1854-84C>T	noncoding	Benign
7	107237023	A	G	A107237023G	COG5	NM_006348.5(COG5):c.1854-336T>C	noncoding	Benign
7	107248149	C	T	C107248149T	COG5	NM_006348.5(COG5):c.1853+247G>A	noncoding	Benign
7	107256592	C	T	C107256592T	COG5	NM_006348.5(COG5):c.1749+140G>A	noncoding	Benign
7	107257055	T	C	T107257055C	COG5	NM_006348.5(COG5):c.1687-261A>G	noncoding	Benign
7	107258013	T	C	T107258013C	COG5	NM_006348.5(COG5):c.1686+260A>G	noncoding	Benign
7	107258332	G	A	G107258332A	COG5	NM_006348.5(COG5):c.1627C>T:p.Gln543Ter	coding	Pathogenic
7	107258580	A	C	A107258580C	COG5	NM_006348.5(COG5):c.1576-197T>G	noncoding	Benign
7	107281559	T	A	T107281559A	COG5	NM_006348.5(COG5):c.1476-160A>T	noncoding	Benign
7	107281661	A	G	A107281661G	COG5	NM_006348.5(COG5):c.1476-262T>C	noncoding	Benign
7	107283555	T	C	T107283555C	COG5	NM_006348.5(COG5):c.1475+16A>G	noncoding	Benign
7	107297975	A	C	A107297975C	COG5	NM_006348.5(COG5):c.1313+167T>G	noncoding	Benign
7	107298276	C	T	C107298276T	COG5	NM_006348.5(COG5):c.1179G>A:p.Trp393Ter	coding	Pathogenic
7	107298458	C	T	C107298458T	COG5	NM_006348.5(COG5):c.1109-112G>A	noncoding	Benign
7	107324564	A	G	A107324564G	COG5	NM_006348.5(COG5):c.1027-43T>C	noncoding	Benign
7	107324594	C	T	C107324594T	COG5	NM_006348.5(COG5):c.1027-73G>A	noncoding	Benign
7	107324646	C	T	C107324646T	COG5	NM_006348.5(COG5):c.1027-125G>A	noncoding	Benign
7	107362098	G	A	G107362098A	COG5	NM_006348.5(COG5):c.961C>T:p.Gln321Ter	coding	Pathogenic
7	107362178	G	A	G107362178A	COG5	NM_006348.5(COG5):c.949-68C>T	noncoding	Benign
7	107362409	G	A	G107362409A	COG5	NM_006348.5(COG5):c.847C>T:p.Arg283Ter	coding	Pathogenic
7	107362732	T	C	T107362732C	COG5	NM_006348.5(COG5):c.836-312A>G	noncoding	Benign
7	107372836	T	G	T107372836G	COG5	NM_006348.5(COG5):c.670-76A>C	noncoding	Benign
7	107412475	A	G	A107412475G	COG5	NM_006348.5(COG5):c.669+27T>C	noncoding	Benign
7	107412558	G	A	G107412558A	COG5	NM_006348.5(COG5):c.613C>T:p.Arg205Ter	coding	Pathogenic
7	107527674	G	T	G107527674T	COG5	NM_006348.5(COG5):c.418-317C>A	noncoding	Benign
7	107547907	C	T	C107547907T	COG5	NM_006348.5(COG5):c.417+204G>A	noncoding	Benign
7	107554135	C	T	C107554135T	COG5	NM_006348.5(COG5):c.292+150G>A	noncoding	Benign
7	107554466	C	A	C107554466A	COG5	NM_006348.5(COG5):c.235-124G>T	noncoding	Benign
7	107554504	C	T	C107554504T	COG5	NM_006348.5(COG5):c.235-162G>A	noncoding	Benign
7	107563544	T	G	T107563544G	COG5	NM_006348.5(COG5):c.94+259A>C	noncoding	Benign
7	107660945	T	G	T107660945G	SLC26A4	NM_000441.2(SLC26A4):c.-4+90T>G	noncoding	Benign
7	107661666	G	T	G107661666T	SLC26A4	NM_000441.2(SLC26A4):c.25G>T:p.Glu9Ter	coding	Pathogenic
7	107661720	T	C	T107661720C	SLC26A4	NM_000441.2(SLC26A4):c.79T>C:p.Tyr27His	coding	Pathogenic
7	107661803	C	A	C107661803A	SLC26A4	NM_000441.2(SLC26A4):c.162C>A:p.Cys54Ter	coding	Pathogenic
7	107661806	G	C	G107661806C	SLC26A4	NM_000441.2(SLC26A4):c.164+1G>C	coding	Pathogenic
7	107661955	T	A	T107661955A	SLC26A4	NM_000441.2(SLC26A4):c.164+150T>A	noncoding	Benign
7	107663177	A	T	A107663177T	SLC26A4	NM_000441.2(SLC26A4):c.165-119A>T	noncoding	Benign
7	107663183	C	T	C107663183T	SLC26A4	NM_000441.2(SLC26A4):c.165-113C>T	noncoding	Benign
7	107663301	C	A	C107663301A	SLC26A4	NM_000441.2(SLC26A4):c.170C>A:p.Ser57Ter	coding	Pathogenic
7	107663330	A	C	A107663330C	SLC26A4	NM_000441.2(SLC26A4):c.199A>C:p.Thr67Pro	coding	Benign
7	107663415	G	A	G107663415A	SLC26A4	NM_000441.2(SLC26A4):c.284G>A:p.Gly95Glu	coding	Pathogenic
7	107663435	G	A	G107663435A	SLC26A4	NM_000441.2(SLC26A4):c.304G>A:p.Gly102Arg	coding	Pathogenic/Likely_pathogenic
7	107672137	G	A	G107672137A	SLC26A4	NM_000441.2(SLC26A4):c.305-1G>A	noncoding	Pathogenic
7	107672167	C	T	C107672167T	SLC26A4	NM_000441.2(SLC26A4):c.334C>T:p.Pro112Ser	coding	Pathogenic/Likely_pathogenic
7	107672230	T	A	T107672230A	SLC26A4	NM_000441.2(SLC26A4):c.397T>A:p.Ser133Thr	coding	Pathogenic/Likely_pathogenic
7	107672250	T	C	T107672250C	SLC26A4	NM_000441.2(SLC26A4):c.415+2T>C	noncoding	Pathogenic
7	107674169	T	C	T107674169C	SLC26A4	NM_000441.2(SLC26A4):c.421T>C:p.Phe141Leu	coding	Pathogenic
7	107674187	A	G	A107674187G	SLC26A4	NM_000441.2(SLC26A4):c.439A>G:p.Met147Val	coding	Pathogenic
7	107674311	T	C	T107674311C	SLC26A4	NM_000441.2(SLC26A4):c.563T>C:p.Ile188Thr	coding	Pathogenic/Likely_pathogenic
7	107674679	T	G	T107674679G	SLC26A4	NM_000441.2(SLC26A4):c.601-266T>G	noncoding	Benign
7	107674928	C	T	C107674928T	SLC26A4	NM_000441.2(SLC26A4):c.601-17C>T	noncoding	Benign
7	107675032	C	T	C107675032T	SLC26A4	NM_000441.2(SLC26A4):c.688C>T:p.Gln230Ter	coding	Pathogenic
7	107675047	C	T	C107675047T	SLC26A4	NM_000441.2(SLC26A4):c.703C>T:p.Gln235Ter	coding	Pathogenic
7	107675048	A	G	A107675048G	SLC26A4	NM_000441.2(SLC26A4):c.704A>G:p.Gln235Arg	coding	Pathogenic
7	107675098	T	C	T107675098C	SLC26A4	NM_000441.2(SLC26A4):c.754T>C:p.Ser252Pro	coding	Pathogenic
7	107675112	A	T	A107675112T	SLC26A4	NM_000441.2(SLC26A4):c.765+3A>T	noncoding	Pathogenic
7	107683248	A	G	A107683248G	SLC26A4	NM_000441.2(SLC26A4):c.812A>G:p.Asp271Gly	coding	Pathogenic
7	107683294	G	A	G107683294A	SLC26A4	NM_000441.2(SLC26A4):c.858G>A:p.Lys286=	coding	Benign
7	107683355	G	C	G107683355C	SLC26A4	NM_000441.2(SLC26A4):c.918+1G>C	coding	Pathogenic
7	107683355	G	T	G107683355T	SLC26A4	NM_000441.2(SLC26A4):c.918+1G>T	coding	Pathogenic/Likely_pathogenic
7	107683537	G	A	G107683537A	SLC26A4	NM_000441.2(SLC26A4):c.1001G>A:p.Gly334Glu	coding	Pathogenic
7	107683537	G	T	G107683537T	SLC26A4	NM_000441.2(SLC26A4):c.1001G>T:p.Gly334Val	coding	Pathogenic/Likely_pathogenic
7	107683539	T	A	T107683539A	SLC26A4	NM_000441.2(SLC26A4):c.1001+2T>A	noncoding	Pathogenic
7	107683567	A	G	A107683567G	SLC26A4	NM_000441.2(SLC26A4):c.1001+30A>G	noncoding	Benign/Likely_benign
7	107683668	G	T	G107683668T	SLC26A4	NM_000441.2(SLC26A4):c.1001+131G>T	noncoding	Benign
7	107683705	A	G	A107683705G	SLC26A4	NM_000441.2(SLC26A4):c.1001+168A>G	noncoding	Benign
7	107689049	C	G	C107689049G	SLC26A4	NM_000441.2(SLC26A4):c.1002-4C>G	noncoding	Pathogenic
7	107689182	C	A	C107689182A	SLC26A4	NM_000441.2(SLC26A4):c.1131C>A:p.Tyr377Ter	coding	Pathogenic
7	107689989	C	T	C107689989T	SLC26A4	NM_000441.2(SLC26A4):c.1150-135C>T	noncoding	Benign
7	107690123	G	A	G107690123A	SLC26A4	NM_000441.2(SLC26A4):c.1150-1G>A	noncoding	Pathogenic
7	107690123	G	T	G107690123T	SLC26A4	NM_000441.2(SLC26A4):c.1150-1G>T	noncoding	Pathogenic
7	107690134	C	T	C107690134T	SLC26A4	NM_000441.2(SLC26A4):c.1160C>T:p.Ala387Val	coding	Pathogenic/Likely_pathogenic
7	107690205	G	C	G107690205C	SLC26A4	NM_000441.2(SLC26A4):c.1231G>C:p.Ala411Pro	coding	Pathogenic/Likely_pathogenic
7	107690236	A	C	A107690236C	SLC26A4	NM_000441.2(SLC26A4):c.1262A>C:p.Gln421Pro	coding	Pathogenic/Likely_pathogenic
7	107690236	A	T	A107690236T	SLC26A4	NM_000441.2(SLC26A4):c.1262A>T:p.Gln421Leu	coding	Pathogenic
7	107690238	G	A	G107690238A	SLC26A4	NM_000441.2(SLC26A4):c.1263+1G>A	coding	Pathogenic/Likely_pathogenic
7	107690556	T	C	T107690556C	SLC26A4	NM_000441.2(SLC26A4):c.1263+319T>C	noncoding	Benign
7	107694068	T	A	T107694068A	SLC26A4	NM_000441.2(SLC26A4):c.1264-335T>A	noncoding	Benign
7	107694216	C	T	C107694216T	SLC26A4	NM_000441.2(SLC26A4):c.1264-187C>T	noncoding	Benign
7	107694391	T	A	T107694391A	SLC26A4	NM_000441.2(SLC26A4):c.1264-12T>A	noncoding	Pathogenic
7	107694466	G	C	G107694466C	SLC26A4	NM_000441.2(SLC26A4):c.1327G>C:p.Glu443Gln	coding	Pathogenic
7	107694476	A	G	A107694476G	SLC26A4	NM_000441.2(SLC26A4):c.1337A>G:p.Gln446Arg	coding	Pathogenic/Likely_pathogenic
7	107694527	T	C	T107694527C	SLC26A4	NM_000441.2(SLC26A4):c.1341+47T>C	noncoding	Benign
7	107694622	C	A	C107694622A	SLC26A4	NM_000441.2(SLC26A4):c.1343C>A:p.Ser448Ter	coding	Pathogenic
7	107694622	C	T	C107694622T	SLC26A4	NM_000441.2(SLC26A4):c.1343C>T:p.Ser448Leu	coding	Pathogenic/Likely_pathogenic
7	107694648	A	G	A107694648G	SLC26A4	NM_000441.2(SLC26A4):c.1369A>G:p.Asn457Asp	coding	Pathogenic
7	107694650	C	A	C107694650A	SLC26A4	NM_000441.2(SLC26A4):c.1371C>A:p.Asn457Lys	coding	Pathogenic/Likely_pathogenic
7	107694903	T	G	T107694903G	SLC26A4	NM_000441.2(SLC26A4):c.1437+187T>G	noncoding	Benign
7	107695919	A	G	A107695919G	SLC26A4	NM_000441.2(SLC26A4):c.1438-14A>G	noncoding	Benign/Likely_benign
7	107698091	A	C	A107698091C	SLC26A4	NM_000441.2(SLC26A4):c.1594A>C:p.Ser532Arg	coding	Pathogenic
7	107698092	G	T	G107698092T	SLC26A4	NM_000441.2(SLC26A4):c.1595G>T:p.Ser532Ile	coding	Pathogenic/Likely_pathogenic
7	107700081	A	G	A107700081G	SLC26A4	NM_000441.2(SLC26A4):c.1615-2A>G	noncoding	Pathogenic/Likely_pathogenic
7	107700113	A	T	A107700113T	SLC26A4	NM_000441.2(SLC26A4):c.1645A>T:p.Arg549Ter	coding	Pathogenic
7	107700386	T	C	T107700386C	SLC26A4	NM_000441.2(SLC26A4):c.1707+211T>C	noncoding	Benign
7	107701109	T	A	T107701109A	SLC26A4	NM_000441.2(SLC26A4):c.1716T>A:p.Phe572Leu	coding	Pathogenic
7	107701133	G	A	G107701133A	SLC26A4	NM_000441.2(SLC26A4):c.1740G>A:p.Lys580=	coding	Benign/Likely_benign
7	107701179	C	T	C107701179T	SLC26A4	NM_000441.2(SLC26A4):c.1786C>T:p.Gln596Ter	coding	Pathogenic
7	107701197	G	C	G107701197C	SLC26A4	NM_000441.2(SLC26A4):c.1803+1G>C	coding	Pathogenic
7	107701852	C	A	C107701852A	SLC26A4	NM_000441.2(SLC26A4):c.1829C>A:p.Ser610Ter	coding	Pathogenic
7	107702008	G	A	G107702008A	SLC26A4	NM_000441.2(SLC26A4):c.1985G>A:p.Cys662Tyr	coding	Pathogenic
7	107702014	C	T	C107702014T	SLC26A4	NM_000441.2(SLC26A4):c.1991C>T:p.Ala664Val	coding	Pathogenic/Likely_pathogenic
7	107704121	C	T	C107704121T	SLC26A4	NM_000441.2(SLC26A4):c.2035-210C>T	noncoding	Benign
7	107704344	T	C	T107704344C	SLC26A4	NM_000441.2(SLC26A4):c.2048T>C:p.Phe683Ser	coding	Pathogenic
7	107710071	C	G	C107710071G	SLC26A4	NM_000441.2(SLC26A4):c.2107C>G:p.Leu703Val	coding	Pathogenic
7	107712388	G	T	G107712388T	SLC26A4	NM_000441.2(SLC26A4):c.2236-151G>T	noncoding	Benign
7	107712514	T	A	T107712514A	SLC26A4	NM_000441.2(SLC26A4):c.2236-25T>A	noncoding	Benign/Likely_benign
7	107767909	C	A	C107767909A	SLC26A3	NM_000111.3(SLC26A3):c.2063-1G>T	coding	Pathogenic
7	107771880	T	A	T107771880A	SLC26A3	NM_000111.3(SLC26A3):c.2062+174A>T	noncoding	Benign
7	107772054	C	G	C107772054G	SLC26A3	NM_000111.3(SLC26A3):c.2062G>C:p.Asp688His	coding	Benign
7	107773869	T	G	T107773869G	SLC26A3	NM_000111.3(SLC26A3):c.2007+51A>C	noncoding	Benign
7	107775019	T	C	T107775019C	SLC26A3	NM_000111.3(SLC26A3):c.1678-147A>G	noncoding	Benign
7	107779764	C	A	C107779764A	SLC26A3	NM_000111.3(SLC26A3):c.1312-1G>T	coding	Pathogenic/Likely_pathogenic
7	107779909	C	T	C107779909T	SLC26A3	NM_000111.3(SLC26A3):c.1312-146G>A	noncoding	Benign
7	107782802	G	A	G107782802A	SLC26A3	NM_000111.3(SLC26A3):c.1306C>T:p.Gln436Ter	coding	Pathogenic
7	107783303	C	A	C107783303A	SLC26A3	NM_000111.3(SLC26A3):c.1021G>T:p.Gly341Ter	coding	Pathogenic
7	107783366	T	G	T107783366G	SLC26A3	NM_000111.3(SLC26A3):c.972-14A>C	noncoding	Benign/Likely_benign
7	107783462	T	C	T107783462C	SLC26A3	NM_000111.3(SLC26A3):c.972-110A>G	noncoding	Benign
7	107786651	T	G	T107786651G	SLC26A3	NM_000111.3(SLC26A3):c.971+176A>C	noncoding	Benign
7	107789487	T	A	T107789487A	SLC26A3	NM_000111.3(SLC26A3):c.735+37A>T	noncoding	Benign
7	107789669	C	T	C107789669T	SLC26A3	NM_000111.3(SLC26A3):c.590G>A:p.Arg197Gln	coding	Benign/Likely_benign
7	107789689	C	A	C107789689A	SLC26A3	NM_000111.3(SLC26A3):c.571-1G>T	coding	Pathogenic
7	107789943	G	T	G107789943T	SLC26A3	NM_000111.3(SLC26A3):c.571-255C>A	noncoding	Benign
7	107790842	A	G	A107790842G	SLC26A3	NM_000111.3(SLC26A3):c.570+206T>C	noncoding	Benign
7	107790968	G	T	G107790968T	SLC26A3	NM_000111.3(SLC26A3):c.570+80C>A	noncoding	Benign
7	107790969	G	C	G107790969C	SLC26A3	NM_000111.3(SLC26A3):c.570+79C>G	noncoding	Benign
7	107791087	C	T	C107791087T	SLC26A3	NM_000111.3(SLC26A3):c.531G>A:p.Ala177=	coding	Benign
7	107791267	T	C	T107791267C	SLC26A3	NM_000111.3(SLC26A3):c.383-32A>G	noncoding	Benign
7	107792024	T	C	T107792024C	SLC26A3	NM_000111.3(SLC26A3):c.272-84A>G	noncoding	Benign
7	107793470	G	A	G107793470A	SLC26A3	NM_000111.3(SLC26A3):c.271+272C>T	noncoding	Benign
7	107793507	T	C	T107793507C	SLC26A3	NM_000111.3(SLC26A3):c.271+235A>G	noncoding	Benign
7	107793946	T	C	T107793946C	SLC26A3	NM_000111.3(SLC26A3):c.132-65A>G	noncoding	Benign
7	107794742	C	T	C107794742T	SLC26A3	NM_000111.3(SLC26A3):c.-88-145G>A	noncoding	Benign
7	107891274	C	G	C107891274G	DLD	NM_000108.5(DLD):c.24C>G:p.Tyr8Ter	coding	Pathogenic
7	107891488	G	A	G107891488A	DLD	NM_000108.5(DLD):c.39+199G>A	noncoding	Benign
7	107901653	G	A	G107901653A	DLD	NM_000108.5(DLD):c.119-85G>A	noncoding	Benign
7	107902217	T	C	T107902217C	DLD	NM_000108.5(DLD):c.199-108T>C	noncoding	Benign
7	107905141	G	A	G107905141A	DLD	NM_000108.5(DLD):c.438+83G>A	noncoding	Benign
7	107905381	T	G	T107905381G	DLD	NM_000108.5(DLD):c.459T>G:p.Tyr153Ter	coding	Pathogenic
7	107905471	G	A	G107905471A	DLD	NM_000108.5(DLD):c.549G>A:p.Thr183=	coding	Benign/Likely_benign
7	107905771	G	T	G107905771T	DLD	NM_000108.5(DLD):c.582+267G>T	noncoding	Benign
7	107906196	A	G	A107906196G	DLD	NM_000108.5(DLD):c.583-71A>G	noncoding	Benign
7	107915697	G	A	G107915697A	DLD	NM_000108.5(DLD):c.875+1G>A	coding	Pathogenic/Likely_pathogenic
7	107915977	T	C	T107915977C	DLD	NM_000108.5(DLD):c.875+281T>C	noncoding	Benign
7	107917408	C	G	C107917408G	DLD	NM_000108.5(DLD):c.1182C>G:p.Tyr394Ter	coding	Pathogenic
7	107919031	G	T	G107919031T	DLD	NM_000108.5(DLD):c.1396G>T:p.Glu466Ter	coding	Pathogenic
7	107919110	A	G	A107919110G	DLD	NM_000108.5(DLD):c.1464+11A>G	noncoding	Benign
7	107923921	T	G	T107923921G	LAMB1	NM_002291.3(LAMB1):c.*30A>C	noncoding	Benign
7	107924538	A	G	A107924538G	LAMB1	NM_002291.3(LAMB1):c.5065-149T>C	noncoding	Benign
7	107924580	T	G	T107924580G	LAMB1	NM_002291.3(LAMB1):c.5065-191A>C	noncoding	Benign
7	107929253	A	T	A107929253T	LAMB1	NM_002291.3(LAMB1):c.4746-48T>A	noncoding	Benign
7	107931703	A	G	A107931703G	LAMB1	NM_002291.3(LAMB1):c.4393-203T>C	noncoding	Benign
7	107935113	G	A	G107935113A	LAMB1	NM_002291.3(LAMB1):c.4188+302C>T	noncoding	Benign
7	107935148	G	A	G107935148A	LAMB1	NM_002291.3(LAMB1):c.4188+267C>T	noncoding	Benign
7	107935354	T	G	T107935354G	LAMB1	NM_002291.3(LAMB1):c.4188+61A>C	noncoding	Benign
7	107935357	T	G	T107935357G	LAMB1	NM_002291.3(LAMB1):c.4188+58A>C	noncoding	Benign
7	107935374	G	T	G107935374T	LAMB1	NM_002291.3(LAMB1):c.4188+41C>A	noncoding	Benign
7	107935375	C	T	C107935375T	LAMB1	NM_002291.3(LAMB1):c.4188+40G>A	noncoding	Benign
7	107937011	T	C	T107937011C	LAMB1	NM_002291.3(LAMB1):c.3946+82A>G	noncoding	Benign
7	107939658	C	T	C107939658T	LAMB1	NM_002291.3(LAMB1):c.3761+331G>A	noncoding	Benign
7	107951471	C	T	C107951471T	LAMB1	NM_002291.3(LAMB1):c.3295-149G>A	noncoding	Benign
7	107951753	A	G	A107951753G	LAMB1	NM_002291.3(LAMB1):c.3294+256T>C	noncoding	Benign
7	107951958	G	A	G107951958A	LAMB1	NM_002291.3(LAMB1):c.3294+51C>T	noncoding	Benign
7	107961538	G	C	G107961538C	LAMB1	NM_002291.3(LAMB1):c.1985+11C>G	noncoding	Benign/Likely_benign
7	107961869	C	G	C107961869G	LAMB1	NM_002291.3(LAMB1):c.1858-193G>C	noncoding	Benign
7	107962700	C	G	C107962700G	LAMB1	NM_002291.3(LAMB1):c.1857+205G>C	noncoding	Benign
7	107963033	G	A	G107963033A	LAMB1	NM_002291.3(LAMB1):c.1729C>T:p.Gln577Ter	coding	Pathogenic
7	107964837	G	A	G107964837A	LAMB1	NM_002291.3(LAMB1):c.1563-150C>T	noncoding	Benign
7	107964859	A	T	A107964859T	LAMB1	NM_002291.3(LAMB1):c.1563-172T>A	noncoding	Benign
7	107972719	A	G	A107972719G	LAMB1	NM_002291.3(LAMB1):c.1562+273T>C	noncoding	Benign
7	107973085	C	T	C107973085T	LAMB1	NM_002291.3(LAMB1):c.1483-14G>A	noncoding	Benign/Likely_benign
7	107975111	A	C	A107975111C	LAMB1	NM_002291.3(LAMB1):c.1370-13T>G	noncoding	Benign/Likely_benign
7	107975116	G	A	G107975116A	LAMB1	NM_002291.3(LAMB1):c.1370-18C>T	noncoding	Benign/Likely_benign
7	107975678	T	C	T107975678C	LAMB1	NM_002291.3(LAMB1):c.1189+11A>G	noncoding	Benign/Likely_benign
7	107975689	G	A	G107975689A	LAMB1	NM_002291.3(LAMB1):c.1189C>T:p.Arg397Ter	coding	Pathogenic
7	107978156	G	A	G107978156A	LAMB1	NM_002291.3(LAMB1):c.891C>T:p.His297=	coding	Benign/Likely_benign
7	107978413	G	A	G107978413A	LAMB1	NM_002291.3(LAMB1):c.880-246C>T	noncoding	Benign
7	107995027	G	C	G107995027C	LAMB1	NM_002291.3(LAMB1):c.350-67C>G	noncoding	Benign
7	107998729	G	C	G107998729C	LAMB1	NM_002291.3(LAMB1):c.214-237C>G	noncoding	Benign
7	108001287	G	A	G108001287A	LAMB1	NM_002291.3(LAMB1):c.213+271C>T	noncoding	Benign
7	108001772	G	A	G108001772A	LAMB1	NM_002291.3(LAMB1):c.38-39C>T	noncoding	Benign
7	108001814	G	C	G108001814C	LAMB1	NM_002291.3(LAMB1):c.38-81C>G	noncoding	Benign
7	108002661	C	T	C108002661T	LAMB1	NM_002291.3(LAMB1):c.37+188G>A	noncoding	Benign
7	108003321	A	G	A108003321G	LAMB1	Single_allele	noncoding	Benign
7	108109223	C	G	C108109223G	LAMB4	NM_007356.3(LAMB4):c.350G>C:p.Arg117Thr	coding	Benign/Likely_benign
7	108180289	G	A	G108180289A	NRCAM	NM_001037132.4(NRCAM):c.2785C>T:p.Arg929Ter	coding	Pathogenic
7	108180336	C	T	C108180336T	NRCAM	NM_001037132.4(NRCAM):c.2738G>A:p.Gly913Asp	coding	Pathogenic
7	108180369	T	G	T108180369G	NRCAM	NM_001037132.4(NRCAM):c.2705A>C:p.Lys902Thr	coding	Pathogenic
7	108180429	T	C	T108180429C	NRCAM	NM_001037132.4(NRCAM):c.2647-2A>G	noncoding	Pathogenic
7	108181911	G	A	G108181911A	NRCAM	NM_001037132.4(NRCAM):c.2557C>T:p.Arg853Cys	coding	Pathogenic
7	108181952	G	A	G108181952A	NRCAM	NM_001037132.4(NRCAM):c.2531-15C>T	noncoding	Benign
7	108194169	G	C	G108194169C	NRCAM	NM_001037132.4(NRCAM):c.1633C>G:p.Pro545Ala	coding	Benign
7	108194180	T	C	T108194180C	NRCAM	NM_001037132.4(NRCAM):c.1631-9A>G	noncoding	Benign
7	108194290	C	T	C108194290T	NRCAM	NM_001037132.4(NRCAM):c.1602G>A:p.Ala534=	coding	Benign
7	108195818	T	C	T108195818C	NRCAM	NM_001037132.4(NRCAM):c.1406A>G:p.Asn469Ser	coding	Pathogenic
7	108226339	C	T	C108226339T	NRCAM	NM_001037132.4(NRCAM):c.590G>A:p.Gly197Asp	coding	Pathogenic
7	108232422	C	A	C108232422A	NRCAM	NM_001037132.4(NRCAM):c.331G>T:p.Glu111Ter	coding	Pathogenic
7	108234649	T	C	T108234649C	NRCAM	NM_001037132.4(NRCAM):c.164A>G:p.Asp55Gly	coding	Pathogenic
7	108491394	G	A	G108491394A	PNPLA8	NM_001256007.3(PNPLA8):c.1683+16C>T	noncoding	Benign
7	108497595	G	C	G108497595C	PNPLA8	NM_001256007.3(PNPLA8):c.1359-18C>G	noncoding	Benign
7	108502475	A	G	A108502475G	PNPLA8	NM_001256007.3(PNPLA8):c.1358+16T>C	noncoding	Benign
7	108514502	A	G	A108514502G	PNPLA8	NM_001256007.3(PNPLA8):c.990T>C:p.Thr330=	coding	Benign
7	108514607	C	T	C108514607T	PNPLA8	NM_001256007.3(PNPLA8):c.885G>A:p.Thr295=	coding	Benign
7	108514975	C	A	C108514975A	PNPLA8	NM_001256007.3(PNPLA8):c.517G>T:p.Glu173Ter	coding	Pathogenic
7	112455988	A	C	A112455988C	IFRD1	NM_001550.4(IFRD1):c.200-14A>C	noncoding	Benign
7	112456018	T	C	T112456018C	IFRD1	NM_001550.4(IFRD1):c.216T>C:p.Asp72=	coding	Benign
7	112461854	T	A	T112461854A	IFRD1	NM_001550.4(IFRD1):c.568-12T>A	noncoding	Benign
7	112461856	T	A	T112461856A	IFRD1	NM_001550.4(IFRD1):c.568-10T>A	noncoding	Benign/Likely_benign
7	112462300	T	G	T112462300G	IFRD1	NM_001550.4(IFRD1):c.828T>G:p.Ser276=	coding	Benign
7	112472224	G	A	G112472224A	IFRD1	NM_001550.4(IFRD1):c.1047G>A:p.Arg349=	coding	Benign
7	112472837	G	A	G112472837A	IFRD1	NM_001550.4(IFRD1):c.1242G>A:p.Thr414=	coding	Benign
7	113878447	A	T	A113878447T	PPP1R3A	NM_002711.4(PPP1R3A):c.2645T>A:p.Leu882His	coding	Benign
7	113879664	A	T	A113879664T	PPP1R3A	NM_002711.4(PPP1R3A):c.1428T>A:p.Asn476Lys	coding	Benign
7	113879741	C	T	C113879741T	PPP1R3A	NM_002711.4(PPP1R3A):c.1351G>A:p.Val451Met	coding	Benign
7	113880201	T	C	T113880201C	PPP1R3A	NM_002711.4(PPP1R3A):c.967-76A>G	noncoding	Benign
7	113880207	C	T	C113880207T	PPP1R3A	NM_002711.4(PPP1R3A):c.967-82G>A	noncoding	Benign
7	113882460	G	T	G113882460T	PPP1R3A	NM_002711.4(PPP1R3A):c.783-140C>A	noncoding	Benign
7	113882607	T	C	T113882607C	PPP1R3A	NM_002711.4(PPP1R3A):c.783-287A>G	noncoding	Benign
7	113919134	G	A	G113919134A	PPP1R3A	Single_allele	noncoding	Benign
7	114570759	T	C	T114570759C	FOXP2	NM_014491.4(FOXP2):c.258+36053T>C	noncoding	Benign
7	114629868	C	T	C114629868T	FOXP2	NM_014491.4(FOXP2):c.460C>T:p.Gln154Ter	coding	Pathogenic
7	114629946	C	T	C114629946T	FOXP2	NM_014491.4(FOXP2):c.538C>T:p.Gln180Ter	coding	Pathogenic
7	114629967	C	T	C114629967T	FOXP2	NM_014491.4(FOXP2):c.559C>T:p.Gln187Ter	coding	Pathogenic
7	114629994	C	T	C114629994T	FOXP2	NM_014491.4(FOXP2):c.586C>T:p.Gln196Ter	coding	Pathogenic
7	114642806	A	T	A114642806T	FOXP2	NM_014491.4(FOXP2):c.989+183A>T	noncoding	Benign
7	114642808	A	T	A114642808T	FOXP2	NM_014491.4(FOXP2):c.989+185A>T	noncoding	Benign
7	114642810	A	T	A114642810T	FOXP2	NM_014491.4(FOXP2):c.989+187A>T	noncoding	Benign
7	114653804	G	T	G114653804T	FOXP2	NM_014491.4(FOXP2):c.1183-122G>T	noncoding	Benign
7	114654010	G	C	G114654010C	FOXP2	NM_014491.4(FOXP2):c.1266+1G>C	coding	Pathogenic
7	114654350	G	C	G114654350C	FOXP2	NM_014491.4(FOXP2):c.1266+341G>C	noncoding	Benign
7	114657765	G	A	G114657765A	FOXP2	NM_014491.4(FOXP2):c.1267-301G>A	noncoding	Benign
7	114658231	C	T	C114658231T	FOXP2	NM_014491.4(FOXP2):c.1432C>T:p.Arg478Ter	coding	Pathogenic
7	114659719	A	G	A114659719G	FOXP2	NM_014491.4(FOXP2):c.1647+46A>G	noncoding	Benign
7	114662107	C	T	C114662107T	FOXP2	NM_014491.4(FOXP2):c.1690C>T:p.Arg564Ter	coding	Pathogenic
7	114662514	C	T	C114662514T	FOXP2	NM_014491.4(FOXP2):c.1769+328C>T	noncoding	Benign
7	114663778	G	A	G114663778A	FOXP2	NM_014491.4(FOXP2):c.1839+259G>A	noncoding	Benign
7	114664126	G	T	G114664126T	FOXP2	NM_014491.4(FOXP2):c.1840-147G>T	noncoding	Benign
7	114664508	C	T	C114664508T	FOXP2	NM_014491.4(FOXP2):c.2003+72C>T	noncoding	Benign
7	114664575	A	T	A114664575T	FOXP2	NM_014491.4(FOXP2):c.2003+139A>T	noncoding	Benign
7	114664599	G	A	G114664599A	FOXP2	NM_014491.4(FOXP2):c.2003+163G>A	noncoding	Benign
7	114942367	G	T	G114942367T	MDFIC	NM_001166345.3(MDFIC):c.187G>T:p.Gly63Ter	coding	Pathogenic
7	115015926	T	G	T115015926G	MDFIC	NM_001166345.3(MDFIC):c.732T>G:p.Phe244Leu	coding	Pathogenic
7	116525108	G	A	G116525108A	CAV1	NM_001753.5(CAV1):c.30+16G>A	coding	Benign/Likely_benign
7	116525112	C	T	C116525112T	CAV1	NM_001753.5(CAV1):c.30+20C>T	coding	Benign
7	116525179	C	T	C116525179T	CAV1	NM_001753.5(CAV1):c.30+87C>T	coding	Benign
7	116526020	G	A	G116526020A	CAV1	NM_001753.5(CAV1):c.31-505G>A	noncoding	Benign
7	116526346	C	T	C116526346T	CAV1	NM_001753.5(CAV1):c.31-179C>T	coding	Benign
7	116672385	C	G	C116672385G	MET	NM_000245.4(MET):c.-207C>G	noncoding	Benign
7	116700528	A	C	A116700528C	MET	NM_000245.4(MET):c.1200+244A>C	noncoding	Benign
7	116731421	T	C	T116731421C	MET	NM_000245.4(MET):c.1201-247T>C	noncoding	Benign
7	116732135	G	C	G116732135C	MET	NM_000245.4(MET):c.1392+276G>C	noncoding	Benign
7	116755203	C	T	C116755203T	MET	NM_000245.4(MET):c.1702-152C>T	noncoding	Benign
7	116757621	T	C	T116757621C	MET	NM_000245.4(MET):c.1966-17T>C	noncoding	Benign
7	116759077	G	A	G116759077A	MET	NM_000245.4(MET):c.2265-314G>A	noncoding	Benign
7	116771724	G	A	G116771724A	MET	NM_000245.4(MET):c.2887+70G>A	noncoding	Benign
7	116771813	G	A	G116771813A	MET	NM_000245.4(MET):c.2888-36G>A	noncoding	Benign
7	116772000	G	T	G116772000T	MET	NM_000245.4(MET):c.3028+11G>T	noncoding	Benign
7	116774906	C	T	C116774906T	MET	NM_000245.4(MET):c.3054C>T:p.Asn1018=	coding	Benign/Likely_benign
7	116774917	G	A	G116774917A	MET	NM_000245.4(MET):c.3065G>A:p.Arg1022Gln	coding	Benign/Likely_benign
7	116777156	T	C	T116777156C	MET	NM_000245.4(MET):c.3260-233T>C	noncoding	Benign
7	116779208	T	C	T116779208C	MET	NM_000245.4(MET):c.3522+251T>C	noncoding	Benign
7	116781913	T	C	T116781913C	MET	NM_000245.4(MET):c.3523-75T>C	noncoding	Benign
7	116782160	C	T	C116782160T	MET	NM_000245.4(MET):c.3632+63C>T	noncoding	Benign
7	116783107	G	A	G116783107A	MET	NM_000245.4(MET):c.3633-197G>A	noncoding	Benign
7	116783266	A	G	A116783266G	MET	NM_000245.4(MET):c.3633-38A>G	noncoding	Benign
7	116795362	G	A	G116795362A	MET	NM_000245.4(MET):c.3799-293G>A	noncoding	Benign
7	117479208	C	T	C117479208T	CFTR	NM_000492.4(CFTR):c.-887C>T	noncoding	Benign
7	117479807	G	C	G117479807C	CFTR	NM_000492.3(CFTR):c.-288G>C	noncoding	Benign/Likely_benign
7	117509228	T	C	T117509228C	CFTR	NM_000492.4(CFTR):c.273+86T>C	noncoding	Benign
7	117509228	T	G	T117509228G	CFTR	NM_000492.4(CFTR):c.273+86T>G	noncoding	Benign
7	117530720	G	A	G117530720A	CFTR	NM_000492.4(CFTR):c.274-179G>A	noncoding	Benign/Likely_benign
7	117530927	T	G	T117530927G	CFTR	NM_000492.4(CFTR):c.302T>G:p.Leu101Ter	coding	Pathogenic
7	117530932	G	T	G117530932T	CFTR	NM_000492.4(CFTR):c.307G>T:p.Gly103Ter	coding	Pathogenic
7	117530939	T	A	T117530939A	CFTR	NM_000492.4(CFTR):c.314T>A:p.Ile105Asn	coding	Pathogenic
7	117530971	G	A	G117530971A	CFTR	NM_000492.4(CFTR):c.346G>A:p.Glu116Lys	coding	Pathogenic
7	117531058	C	G	C117531058G	CFTR	NM_000492.4(CFTR):c.433C>G:p.Leu145Val	coding	Pathogenic
7	117531076	C	T	C117531076T	CFTR	NM_000492.4(CFTR):c.451C>T:p.Gln151Ter	coding	Pathogenic
7	117534274	A	G	A117534274G	CFTR	NM_000492.4(CFTR):c.490-2A>G	noncoding	Pathogenic
7	117534289	C	G	C117534289G	CFTR	NM_000492.4(CFTR):c.503C>G:p.Ser168Ter	coding	Pathogenic
7	117534318	G	C	G117534318C	CFTR	NM_000492.4(CFTR):c.532G>C:p.Gly178Arg	coding	Pathogenic
7	117534321	C	T	C117534321T	CFTR	NM_000492.4(CFTR):c.535C>T:p.Gln179Ter	coding	Pathogenic
7	117534357	T	G	T117534357G	CFTR	NM_000492.4(CFTR):c.571T>G:p.Phe191Val	coding	Pathogenic
7	117534361	A	G	A117534361G	CFTR	NM_000492.4(CFTR):c.575A>G:p.Asp192Gly	coding	Pathogenic
7	117534478	C	T	C117534478T	CFTR	NM_000492.4(CFTR):c.579+113C>T	noncoding	Benign
7	117535046	G	C	G117535046C	CFTR	NM_000492.4(CFTR):c.580-202G>C	noncoding	Benign
7	117535089	G	A	G117535089A	CFTR	NM_000492.4(CFTR):c.580-159G>A	noncoding	Benign
7	117535248	G	A	G117535248A	CFTR	NM_000492.4(CFTR):c.580G>A:p.Gly194Arg	coding	Pathogenic
7	117535248	G	T	G117535248T	CFTR	NM_000492.4(CFTR):c.580G>T:p.Gly194Ter	coding	Pathogenic
7	117535274	G	A	G117535274A	CFTR	NM_000492.4(CFTR):c.606G>A:p.Trp202Ter	coding	Pathogenic
7	117535287	C	T	C117535287T	CFTR	NM_000492.4(CFTR):c.619C>T:p.Gln207Ter	coding	Pathogenic
7	117536546	A	G	A117536546G	CFTR	NM_000492.4(CFTR):c.744-2A>G	noncoding	Pathogenic
7	117536573	G	T	G117536573T	CFTR	NM_000492.4(CFTR):c.769G>T:p.Glu257Ter	coding	Pathogenic
7	117536635	G	A	G117536635A	CFTR	NM_000492.4(CFTR):c.831G>A:p.Trp277Ter	coding	Pathogenic
7	117536648	G	T	G117536648T	CFTR	NM_000492.4(CFTR):c.844G>T:p.Glu282Ter	coding	Pathogenic
7	117536676	A	T	A117536676T	CFTR	NM_000492.4(CFTR):c.869+3A>T	noncoding	Pathogenic/Likely_pathogenic
7	117536906	C	A	C117536906A	CFTR	NM_000492.4(CFTR):c.869+233C>A	noncoding	Benign
7	117539932	A	G	A117539932G	CFTR	NM_000492.4(CFTR):c.870-168A>G	noncoding	Benign
7	117540088	T	A	T117540088A	CFTR	NM_000492.4(CFTR):c.870-12T>A	noncoding	Pathogenic
7	117540098	A	G	A117540098G	CFTR	NM_000492.4(CFTR):c.870-2A>G	noncoding	Pathogenic/Likely_pathogenic
7	117540298	G	A	G117540298A	CFTR	NM_000492.4(CFTR):c.1068G>A:p.Trp356Ter	coding	Pathogenic
7	117540348	T	A	T117540348A	CFTR	NM_000492.4(CFTR):c.1116+2T>A	noncoding	Pathogenic
7	117542031	C	T	C117542031T	CFTR	NM_000492.4(CFTR):c.1132C>T:p.Gln378Ter	coding	Pathogenic/Likely_pathogenic
7	117542034	G	T	G117542034T	CFTR	NM_000492.4(CFTR):c.1135G>T:p.Glu379Ter	coding	Pathogenic
7	117542040	A	T	A117542040T	CFTR	NM_000492.4(CFTR):c.1141A>T:p.Lys381Ter	coding	Pathogenic/Likely_pathogenic
7	117548650	G	T	G117548650T	CFTR	NM_000492.4(CFTR):c.1219G>T:p.Glu407Ter	coding	Pathogenic/Likely_pathogenic
7	117559506	G	T	G117559506T	CFTR	NM_000492.4(CFTR):c.1435G>T:p.Glu479Ter	coding	Pathogenic
7	117559587	A	C	A117559587C	CFTR	NM_000492.4(CFTR):c.1516A>C:p.Ile506Leu	coding	Pathogenic/Likely_pathogenic
7	117559588	T	G	T117559588G	CFTR	NM_000492.4(CFTR):c.1517T>G:p.Ile506Ser	coding	Pathogenic
7	117559590	A	G	A117559590G	CFTR	NM_000492.4(CFTR):c.1519A>G:p.Ile507Val	coding	Benign/Likely_benign
7	117559611	G	T	G117559611T	CFTR	NM_000492.4(CFTR):c.1540G>T:p.Glu514Ter	coding	Pathogenic/Likely_pathogenic
7	117559622	C	G	C117559622G	CFTR	NM_000492.4(CFTR):c.1551C>G:p.Tyr517Ter	coding	Pathogenic
7	117589636	A	G	A117589636G	CFTR	NM_000492.4(CFTR):c.1680-717A>G	noncoding	Benign
7	117590229	T	C	T117590229C	CFTR	NM_000492.4(CFTR):c.1680-124T>C	noncoding	Benign
7	117590376	T	A	T117590376A	CFTR	NM_000492.4(CFTR):c.1703T>A:p.Leu568Ter	coding	Pathogenic/Likely_pathogenic
7	117590385	T	C	T117590385C	CFTR	NM_000492.4(CFTR):c.1712T>C:p.Leu571Ser	coding	Pathogenic/Likely_pathogenic
7	117590393	C	T	C117590393T	CFTR	NM_000492.4(CFTR):c.1720C>T:p.Pro574Ser	coding	Pathogenic
7	117590435	G	T	G117590435T	CFTR	NM_000492.4(CFTR):c.1762G>T:p.Glu588Ter	coding	Pathogenic
7	117591798	T	C	T117591798C	CFTR	NM_000492.4(CFTR):c.1767-136T>C	noncoding	Benign/Likely_benign
7	117591959	A	T	A117591959T	CFTR	NM_000492.4(CFTR):c.1792A>T:p.Lys598Ter	coding	Pathogenic
7	117592136	A	T	A117592136T	CFTR	NM_000492.4(CFTR):c.1969A>T:p.Arg657Ter	coding	Pathogenic/Likely_pathogenic
7	117592146	C	G	C117592146G	CFTR	NM_000492.4(CFTR):c.1979C>G:p.Ser660Ter	coding	Pathogenic/Likely_pathogenic
7	117592179	T	A	T117592179A	CFTR	NM_000492.4(CFTR):c.2012T>A:p.Leu671Ter	coding	Pathogenic
7	117592502	C	T	C117592502T	CFTR	NM_000492.4(CFTR):c.2335C>T:p.Gln779Ter	coding	Pathogenic
7	117592508	C	T	C117592508T	CFTR	NM_000492.4(CFTR):c.2341C>T:p.Gln781Ter	coding	Pathogenic
7	117592607	C	T	C117592607T	CFTR	NM_000492.4(CFTR):c.2440C>T:p.Gln814Ter	coding	Pathogenic
7	117595060	T	C	T117595060C	CFTR	NM_000492.4(CFTR):c.2619+2T>C	noncoding	Pathogenic
7	117595164	T	A	T117595164A	CFTR	NM_000492.4(CFTR):c.2619+106T>A	noncoding	Benign
7	117603612	A	G	A117603612G	CFTR	NM_000492.4(CFTR):c.2738A>G:p.Tyr913Cys	coding	Pathogenic/Likely_pathogenic
7	117603746	C	T	C117603746T	CFTR	NM_000492.4(CFTR):c.2872C>T:p.Gln958Ter	coding	Pathogenic
7	117603759	C	A	C117603759A	CFTR	NM_000492.4(CFTR):c.2885C>A:p.Ser962Ter	coding	Pathogenic
7	117606682	C	T	C117606682T	CFTR	NM_000492.4(CFTR):c.2917C>T:p.Leu973Phe	coding	Pathogenic
7	117610544	T	G	T117610544G	CFTR	NM_000492.4(CFTR):c.3014T>G:p.Ile1005Arg	coding	Pathogenic/Likely_pathogenic
7	117610633	C	T	C117610633T	CFTR	NM_000492.4(CFTR):c.3103C>T:p.Gln1035Ter	coding	Pathogenic
7	117611565	T	A	T117611565A	CFTR	NM_000492.4(CFTR):c.3140-16T>A	noncoding	Pathogenic
7	117611708	G	A	G117611708A	CFTR	NM_000492.4(CFTR):c.3267G>A:p.Trp1089Ter	coding	Pathogenic/Likely_pathogenic
7	117612004	C	T	C117612004T	CFTR	NM_000492.4(CFTR):c.3367+196C>T	noncoding	Benign
7	117614627	A	T	A117614627T	CFTR	NM_000492.4(CFTR):c.3382A>T:p.Arg1128Ter	coding	Pathogenic
7	117614655	T	G	T117614655G	CFTR	NM_000492.4(CFTR):c.3410T>G:p.Met1137Arg	coding	Pathogenic/Likely_pathogenic
7	117614675	C	T	C117614675T	CFTR	NM_000492.4(CFTR):c.3430C>T:p.Gln1144Ter	coding	Pathogenic
7	117614679	G	A	G117614679A	CFTR	NM_000492.4(CFTR):c.3434G>A:p.Trp1145Ter	coding	Pathogenic
7	117627599	C	G	C117627599G	CFTR	NM_000492.4(CFTR):c.3546C>G:p.Tyr1182Ter	coding	Pathogenic/Likely_pathogenic
7	117627609	C	T	C117627609T	CFTR	NM_000492.4(CFTR):c.3556C>T:p.Gln1186Ter	coding	Pathogenic
7	117642450	G	A	G117642450A	CFTR	NM_000492.4(CFTR):c.3730G>A:p.Gly1244Arg	coding	Pathogenic
7	117642509	T	C	T117642509C	CFTR	NM_000492.4(CFTR):c.3789T>C:p.Thr1263=	coding	Benign/Likely_benign
7	117642591	C	T	C117642591T	CFTR	NM_000492.4(CFTR):c.3871C>T:p.Gln1291Ter	coding	Pathogenic
7	117642710	T	G	T117642710G	CFTR	NM_000492.4(CFTR):c.3873+117T>G	noncoding	Benign
7	117652897	G	A	G117652897A	CFTR	NM_000492.4(CFTR):c.3929G>A:p.Trp1310Ter	coding	Pathogenic
7	117652898	G	A	G117652898A	CFTR	NM_000492.4(CFTR):c.3930G>A:p.Trp1310Ter	coding	Pathogenic
7	117664778	C	T	C117664778T	CFTR	NM_000492.4(CFTR):c.4054C>T:p.Gln1352Ter	coding	Pathogenic/Likely_pathogenic
7	117664821	T	A	T117664821A	CFTR	NM_000492.4(CFTR):c.4097T>A:p.Ile1366Asn	coding	Pathogenic
7	117665097	C	T	C117665097T	CFTR	NM_000492.4(CFTR):c.4136+237C>T	noncoding	Benign
7	117665523	G	T	G117665523T	CFTR	NM_000492.4(CFTR):c.4201G>T:p.Glu1401Ter	coding	Pathogenic
7	117665762	T	C	T117665762C	CFTR	NM_000492.4(CFTR):c.4242+198T>C	noncoding	Benign
7	120273428	C	T	C120273428T	KCND2	NM_012281.3(KCND2):c.-1205C>T	noncoding	Benign
7	120273436	A	C	A120273436C	KCND2	NM_012281.3(KCND2):c.-1197A>C	noncoding	Benign
7	120275545	C	T	C120275545T	KCND2	NM_012281.3(KCND2):c.913C>T:p.Arg305Cys	coding	Pathogenic
7	120732769	A	G	A120732769G	KCND2	NM_012281.3(KCND2):c.1116-134A>G	noncoding	Benign
7	120732885	A	T	A120732885T	KCND2	NM_012281.3(KCND2):c.1116-18A>T	noncoding	Benign
7	120732887	T	A	T120732887A	KCND2	NM_012281.3(KCND2):c.1116-16T>A	noncoding	Benign
7	120732892	C	A	C120732892A	KCND2	NM_012281.3(KCND2):c.1116-11C>A	noncoding	Benign
7	120732995	C	T	C120732995T	KCND2	NM_012281.3(KCND2):c.1208C>T:p.Pro403Leu	coding	Pathogenic/Likely_pathogenic
7	120732997	G	A	G120732997A	KCND2	NM_012281.3(KCND2):c.1210G>A:p.Val404Met	coding	Pathogenic
7	120733084	G	A	G120733084A	KCND2	NM_012281.3(KCND2):c.1278+19G>A	noncoding	Benign
7	120741530	A	G	A120741530G	KCND2	NM_012281.3(KCND2):c.1279-4A>G	noncoding	Benign
7	120741697	T	C	T120741697C	KCND2	NM_012281.3(KCND2):c.1374+68T>C	noncoding	Benign
7	120742314	C	T	C120742314T	KCND2	NM_012281.3(KCND2):c.1375-196C>T	noncoding	Benign
7	120745598	G	T	G120745598T	KCND2	NM_012281.3(KCND2):c.1468-182G>T	noncoding	Benign
7	120788896	C	T	C120788896T	TSPAN12	NM_012338.4(TSPAN12):c.614G>A:p.Gly205Asp	coding	Pathogenic
7	120806538	T	C	T120806538C	TSPAN12	NM_012338.4(TSPAN12):c.612+11A>G	noncoding	Benign
7	120806618	G	T	G120806618T	TSPAN12	NM_012338.4(TSPAN12):c.543C>A:p.Cys181Ter	coding	Pathogenic
7	120806871	G	A	G120806871A	TSPAN12	NM_012338.4(TSPAN12):c.469-179C>T	noncoding	Benign
7	120810497	C	T	C120810497T	TSPAN12	NM_012338.4(TSPAN12):c.434G>A:p.Trp145Ter	coding	Pathogenic
7	120810604	G	A	G120810604A	TSPAN12	NM_012338.4(TSPAN12):c.361-34C>T	noncoding	Benign
7	120810672	G	A	G120810672A	TSPAN12	NM_012338.4(TSPAN12):c.361-102C>T	noncoding	Benign
7	120810682	C	A	C120810682A	TSPAN12	NM_012338.4(TSPAN12):c.361-112G>T	noncoding	Benign
7	120810715	G	A	G120810715A	TSPAN12	NM_012338.4(TSPAN12):c.361-145C>T	noncoding	Benign
7	120815738	C	T	C120815738T	TSPAN12	NM_012338.4(TSPAN12):c.351G>A:p.Gln117=	coding	Benign
7	120815744	A	C	A120815744C	TSPAN12	NM_012338.4(TSPAN12):c.345T>G:p.Tyr115Ter	coding	Pathogenic
7	120840132	C	T	C120840132T	TSPAN12	NM_012338.4(TSPAN12):c.67-23G>A	noncoding	Benign
7	120856762	A	T	A120856762T	TSPAN12	NM_012338.4(TSPAN12):c.2T>A:p.Met1Lys	coding	Pathogenic
7	122079532	C	T	C122079532T	AASS	NM_005763.4(AASS):c.2396+65G>A	noncoding	Benign
7	122079769	G	A	G122079769A	AASS	NM_005763.4(AASS):c.2281-57C>T	noncoding	Benign
7	122081605	G	T	G122081605T	AASS	NM_005763.4(AASS):c.2185-10C>A	noncoding	Benign
7	122085907	A	G	A122085907G	AASS	NM_005763.4(AASS):c.2184+105T>C	noncoding	Benign
7	122086096	A	C	A122086096C	AASS	NM_005763.4(AASS):c.2100T>G:p.Tyr700Ter	coding	Pathogenic
7	122092043	A	T	A122092043T	AASS	NM_005763.4(AASS):c.1876-200T>A	noncoding	Benign
7	122093079	T	A	T122093079A	AASS	NM_005763.4(AASS):c.1735A>T:p.Ile579Phe	coding	Benign
7	122098596	T	C	T122098596C	AASS	NM_005763.4(AASS):c.1529-20A>G	noncoding	Benign
7	122101169	G	C	G122101169C	AASS	NM_005763.4(AASS):c.1406+202C>G	noncoding	Benign
7	122101608	G	T	G122101608T	AASS	NM_005763.4(AASS):c.1338+13C>A	noncoding	Benign
7	122101803	A	C	A122101803C	AASS	NM_005763.4(AASS):c.1279-123T>G	noncoding	Benign
7	122113462	C	A	C122113462A	AASS	NM_005763.4(AASS):c.1166+136G>T	noncoding	Benign
7	122115125	G	A	G122115125A	AASS	NM_005763.4(AASS):c.992C>T:p.Pro331Leu	coding	Benign
7	122116616	G	A	G122116616A	AASS	NM_005763.4(AASS):c.894+17C>T	noncoding	Benign
7	122116972	T	C	T122116972C	AASS	NM_005763.4(AASS):c.688-15A>G	noncoding	Benign
7	122118236	G	C	G122118236C	AASS	NM_005763.4(AASS):c.687+71C>G	noncoding	Benign
7	122126584	A	T	A122126584T	AASS	NM_005763.4(AASS):c.388-125T>A	noncoding	Benign
7	122133937	G	A	G122133937A	AASS	NM_005763.4(AASS):c.-15-196C>T	noncoding	Benign
7	122144387	G	A	G122144387A	AASS	Single_allele	noncoding	Benign
7	122302472	A	G	A122302472G	FEZF1	NM_001024613.4(FEZF1):c.1070-117T>C	noncoding	Benign
7	122302567	A	G	A122302567G	FEZF1	NM_001024613.4(FEZF1):c.1070-212T>C	noncoding	Benign
7	122302620	C	A	C122302620A	FEZF1	NM_001024613.4(FEZF1):c.1069+179G>T	noncoding	Benign
7	122302793	G	C	G122302793C	FEZF1	NM_001024613.4(FEZF1):c.1069+6C>G	noncoding	Benign
7	122302795	A	G	A122302795G	FEZF1	NM_001024613.4(FEZF1):c.1069+4T>C	noncoding	Benign
7	122303516	A	G	A122303516G	FEZF1	NM_001024613.4(FEZF1):c.801+121T>C	noncoding	Benign
7	122303536	A	G	A122303536G	FEZF1	NM_001024613.4(FEZF1):c.801+101T>C	noncoding	Benign
7	122303588	A	G	A122303588G	FEZF1	NM_001024613.4(FEZF1):c.801+49T>C	noncoding	Benign
7	122303627	T	A	T122303627A	FEZF1	NM_001024613.4(FEZF1):c.801+10A>T	noncoding	Benign/Likely_benign
7	122304473	T	C	T122304473C	FEZF1	NM_001024613.4(FEZF1):c.-36A>G	noncoding	Benign
7	122320353	T	G	T122320353G	CADPS2	NM_017954.11(CADPS2):c.3718-15A>C	noncoding	Benign
7	122438360	T	G	T122438360G	CADPS2	NM_017954.11(CADPS2):c.2457A>C:p.Thr819=	coding	Benign
7	123655910	C	T	C123655910T	LMOD2	NM_207163.3(LMOD2):c.-54C>T	noncoding	Benign
7	123656237	G	A	G123656237A	LMOD2	NM_207163.3(LMOD2):c.273+1G>A	coding	Pathogenic
7	123656266	C	A	C123656266A	LMOD2	NM_207163.3(LMOD2):c.273+30C>A	noncoding	Benign
7	123661753	T	A	T123661753A	LMOD2	NM_207163.3(LMOD2):c.274-107T>A	noncoding	Benign
7	123661886	A	G	A123661886G	LMOD2	NM_207163.3(LMOD2):c.300A>G:p.Glu100=	coding	Benign
7	123662779	G	A	G123662779A	LMOD2	NM_207163.3(LMOD2):c.1193G>A:p.Trp398Ter	coding	Pathogenic
7	123663123	C	T	C123663123T	LMOD2	NM_207163.3(LMOD2):c.1537C>T:p.Arg513Ter	coding	Pathogenic
7	123663423	A	G	A123663423G	LMOD2	NM_207163.3(LMOD2):c.1617+220A>G	noncoding	Benign
7	124826999	T	C	T124826999C	POT1	NM_015450.3(POT1):c.1686+215A>G	noncoding	Benign
7	124827285	G	A	G124827285A	POT1	NM_015450.3(POT1):c.1615C>T:p.Gln539Ter	coding	Pathogenic
7	124827559	T	C	T124827559C	POT1	NM_015450.3(POT1):c.1595-254A>G	noncoding	Benign
7	124829276	C	T	C124829276T	POT1	NM_015450.3(POT1):c.1572G>A:p.Trp524Ter	coding	Pathogenic/Likely_pathogenic
7	124829280	G	T	G124829280T	POT1	NM_015450.3(POT1):c.1568C>A:p.Ser523Ter	coding	Pathogenic
7	124829330	A	T	A124829330T	POT1	NM_015450.3(POT1):c.1518T>A:p.Cys506Ter	coding	Pathogenic
7	124835384	G	T	G124835384T	POT1	NM_015450.3(POT1):c.1400C>A:p.Ser467Ter	coding	Pathogenic/Likely_pathogenic
7	124841048	G	A	G124841048A	POT1	NM_015450.3(POT1):c.1294C>T:p.Arg432Ter	coding	Pathogenic
7	124841057	G	A	G124841057A	POT1	NM_015450.3(POT1):c.1285C>T:p.Gln429Ter	coding	Pathogenic
7	124841070	C	T	C124841070T	POT1	NM_015450.3(POT1):c.1272G>A:p.Trp424Ter	coding	Pathogenic
7	124841080	G	T	G124841080T	POT1	NM_015450.3(POT1):c.1262C>A:p.Ser421Ter	coding	Pathogenic
7	124841179	C	T	C124841179T	POT1	NM_015450.3(POT1):c.1164-1G>A	coding	Pathogenic/Likely_pathogenic
7	124841394	C	G	C124841394G	POT1	NM_015450.3(POT1):c.1164-216G>C	noncoding	Benign
7	124842883	G	A	G124842883A	POT1	NM_015450.3(POT1):c.1087C>T:p.Arg363Ter	coding	Pathogenic/Likely_pathogenic
7	124842898	G	A	G124842898A	POT1	NM_015450.3(POT1):c.1072C>T:p.Gln358Ter	coding	Pathogenic
7	124842940	C	A	C124842940A	POT1	NM_015450.3(POT1):c.1030G>T:p.Glu344Ter	coding	Pathogenic
7	124842949	G	A	G124842949A	POT1	NM_015450.3(POT1):c.1021C>T:p.Gln341Ter	coding	Pathogenic
7	124843218	A	T	A124843218T	POT1	NM_015450.3(POT1):c.1007-255T>A	noncoding	Benign
7	124846957	G	A	G124846957A	POT1	NM_015450.3(POT1):c.991C>T:p.Gln331Ter	coding	Pathogenic/Likely_pathogenic
7	124847255	A	G	A124847255G	POT1	NM_015450.3(POT1):c.950-257T>C	noncoding	Benign
7	124847256	G	A	G124847256A	POT1	NM_015450.3(POT1):c.950-258C>T	noncoding	Benign
7	124851895	G	C	G124851895C	POT1	NM_015450.3(POT1):c.926C>G:p.Ser309Ter	coding	Pathogenic
7	124852709	A	G	A124852709G	POT1	NM_015450.3(POT1):c.869+263T>C	noncoding	Benign
7	124853059	A	C	A124853059C	POT1	NM_015450.3(POT1):c.782T>G:p.Leu261Ter	coding	Pathogenic
7	124858653	C	G	C124858653G	POT1	NM_015450.3(POT1):c.702+304G>C	noncoding	Benign
7	124858990	G	C	G124858990C	POT1	NM_015450.3(POT1):c.669C>G:p.Tyr223Ter	coding	Pathogenic
7	124859064	G	A	G124859064A	POT1	NM_015450.3(POT1):c.595C>T:p.Gln199Ter	coding	Pathogenic
7	124859111	A	C	A124859111C	POT1	NM_015450.3(POT1):c.548T>G:p.Val183Gly	coding	Benign
7	124859348	C	G	C124859348G	POT1	NM_015450.3(POT1):c.547-236G>C	noncoding	Benign
7	124863058	T	C	T124863058C	POT1	NM_015450.3(POT1):c.546+292A>G	noncoding	Benign
7	124863135	A	G	A124863135G	POT1	NM_015450.3(POT1):c.546+215T>C	noncoding	Benign
7	124863413	A	C	A124863413C	POT1	NM_015450.3(POT1):c.483T>G:p.Tyr161Ter	coding	Pathogenic
7	124863447	A	C	A124863447C	POT1	NM_015450.3(POT1):c.449T>G:p.Leu150Ter	coding	Pathogenic
7	124863766	A	T	A124863766T	POT1	NM_015450.3(POT1):c.256-126T>A	noncoding	Benign
7	124863939	T	C	T124863939C	POT1	NM_015450.3(POT1):c.256-299A>G	noncoding	Benign
7	124870989	G	T	G124870989T	POT1	NM_015450.3(POT1):c.177C>A:p.Cys59Ter	coding	Pathogenic
7	124892272	C	A	C124892272A	POT1	NM_015450.3(POT1):c.118G>T:p.Gly40Ter	coding	Pathogenic
7	124892662	C	T	C124892662T	POT1	NM_015450.3(POT1):c.10-282G>A	noncoding	Benign
7	124896859	C	A	C124896859A	POT1	NM_015450.3(POT1):c.9+306G>T	noncoding	Benign
7	124897207	A	G	A124897207G	POT1	NM_015450.3(POT1):c.-34T>C	noncoding	Benign
7	124898231	G	A	G124898231A	POT1	NM_015450.3(POT1):c.-40+30C>T	noncoding	Benign
7	124898536	A	G	A124898536G	POT1	NM_015450.3(POT1):c.-153-162T>C	noncoding	Benign
7	124915801	T	C	T124915801C	POT1	NM_015450.3(POT1):c.-226-155A>G	noncoding	Benign
7	127611738	G	A	G127611738A	PAX4	NM_001366110.1(PAX4):c.772-62C>T	noncoding	Benign
7	127612042	G	A	G127612042A	PAX4	NM_001366110.1(PAX4):c.716-42C>T	noncoding	Benign
7	127612849	A	C	A127612849C	PAX4	NM_001366110.1(PAX4):c.715+173T>G	noncoding	Benign
7	127613098	G	A	G127613098A	PAX4	NM_001366110.1(PAX4):c.646-7C>T	noncoding	Benign/Likely_benign
7	127613397	C	T	C127613397T	PAX4	NM_001366110.1(PAX4):c.645+53G>A	noncoding	Benign
7	127613459	G	A	G127613459A	PAX4	NM_001366110.1(PAX4):c.636C>T:p.Asp212=	coding	Benign/Likely_benign
7	127613862	G	A	G127613862A	PAX4	NM_001366110.1(PAX4):c.456C>T:p.Val152=	coding	Benign/Likely_benign
7	127614403	G	A	G127614403A	PAX4	NM_001366110.1(PAX4):c.436+79C>T	noncoding	Benign
7	127614406	C	T	C127614406T	PAX4	NM_001366110.1(PAX4):c.436+76G>A	noncoding	Benign
7	127614895	C	T	C127614895T	PAX4	NM_001366110.1(PAX4):c.345G>A:p.Gln115=	coding	Benign
7	127615231	C	G	C127615231G	PAX4	NM_001366110.1(PAX4):c.145-136G>C	noncoding	Benign
7	127615429	C	T	C127615429T	PAX4	NM_001366110.1(PAX4):c.116G>A:p.Arg39Gln	coding	Benign/Likely_benign
7	127615476	A	G	A127615476G	PAX4	NM_001366110.1(PAX4):c.69T>C:p.Pro23=	coding	Benign/Likely_benign
7	128029531	T	C	T128029531C	LRRC4	NM_022143.5(LRRC4):c.1110A>G:p.Ala370=	coding	Benign
7	128029804	A	T	A128029804T	LRRC4	NM_022143.5(LRRC4):c.837T>A:p.Ser279=	coding	Benign
7	128241296	G	A	G128241296A	LEP	NM_000230.3(LEP):c.-39G>A	noncoding	Benign/Likely_benign
7	128252091	C	T	C128252091T	LEP	NM_000230.3(LEP):c.73C>T:p.Gln25Ter	coding	Pathogenic
7	128254187	G	A	G128254187A	LEP	NM_000230.3(LEP):c.145-217G>A	noncoding	Benign
7	128254252	G	A	G128254252A	LEP	NM_000230.3(LEP):c.145-152G>A	noncoding	Benign
7	128254297	G	A	G128254297A	LEP	NM_000230.3(LEP):c.145-107G>A	noncoding	Benign
7	128254354	C	T	C128254354T	LEP	NM_000230.3(LEP):c.145-50C>T	noncoding	Benign
7	128394440	C	T	C128394440T	IMPDH1	NM_000883.4(IMPDH1):c.1694+16G>A	noncoding	Benign
7	128394603	C	T	C128394603T	IMPDH1	NM_000883.4(IMPDH1):c.1551-4G>A	noncoding	Benign
7	128395098	G	A	G128395098A	IMPDH1	NM_000883.4(IMPDH1):c.1405+33C>T	noncoding	Benign
7	128396918	G	A	G128396918A	IMPDH1	NM_000883.4(IMPDH1):c.1165+14C>T	noncoding	Benign
7	128398406	G	A	G128398406A	IMPDH1	NM_000883.4(IMPDH1):c.1074+8C>T	noncoding	Benign
7	128398556	T	C	T128398556C	IMPDH1	NM_000883.4(IMPDH1):c.932A>G:p.Asp311Gly	coding	Pathogenic
7	128400801	C	A	C128400801A	IMPDH1	NM_000883.4(IMPDH1):c.579+16G>T	noncoding	Benign
7	128403981	A	G	A128403981G	IMPDH1	NM_000883.4(IMPDH1):c.354-227T>C	noncoding	Benign
7	128409272	G	A	G128409272A	IMPDH1	NM_000883.4(IMPDH1):c.254+17C>T	noncoding	Benign
7	128409503	T	C	T128409503C	IMPDH1	NM_000883.4(IMPDH1):c.147-19A>G	noncoding	Benign
7	128409519	C	T	C128409519T	IMPDH1	NM_000883.4(IMPDH1):c.147-35G>A	noncoding	Benign
7	128409536	C	A	C128409536A	IMPDH1	NM_000883.4(IMPDH1):c.147-52G>T	noncoding	Benign
7	128772564	C	A	C128772564A	OPN1SW	NM_001385125.1(OPN1SW):c.1014G>T:p.Ser338=	coding	Benign
7	128773672	T	C	T128773672C	OPN1SW	NM_001385125.1(OPN1SW):c.895A>G:p.Ile299Val	coding	Benign
7	128773901	A	G	A128773901G	OPN1SW	NM_001385125.1(OPN1SW):c.679-13T>C	noncoding	Benign
7	128773902	C	T	C128773902T	OPN1SW	NM_001385125.1(OPN1SW):c.679-14G>A	noncoding	Benign
7	128774648	G	A	G128774648A	OPN1SW	NM_001385125.1(OPN1SW):c.528C>T:p.Gly176=	coding	Benign
7	128774679	C	T	C128774679T	OPN1SW	NM_001385125.1(OPN1SW):c.513-16G>A	noncoding	Benign
7	128775017	C	T	C128775017T	OPN1SW	NM_001385125.1(OPN1SW):c.481G>A:p.Val161Ile	coding	Benign
7	128775141	T	G	T128775141G	OPN1SW	NM_001385125.1(OPN1SW):c.357A>C:p.Gly119=	coding	Benign
7	128775776	C	T	C128775776T	OPN1SW	NM_001385125.1(OPN1SW):c.6G>A:p.Ser2=	coding	Benign
7	128830659	T	C	T128830659C	FLNC	NM_001458.5(FLNC):c.22T>C:p.Ser8Pro	coding	Benign/Likely_benign
7	128830739	G	A	G128830739A	FLNC	NM_001458.5(FLNC):c.102G>A:p.Trp34Ter	coding	Pathogenic
7	128830818	C	T	C128830818T	FLNC	NM_001458.5(FLNC):c.181C>T:p.Gln61Ter	coding	Pathogenic
7	128831030	G	A	G128831030A	FLNC	NM_001458.5(FLNC):c.352+41G>A	noncoding	Benign
7	128835294	C	T	C128835294T	FLNC	NM_001458.5(FLNC):c.353-32C>T	noncoding	Benign
7	128835528	G	A	G128835528A	FLNC	NM_001458.5(FLNC):c.555G>A:p.Trp185Ter	coding	Pathogenic
7	128837126	C	T	C128837126T	FLNC	NM_001458.5(FLNC):c.602-34C>T	noncoding	Benign
7	128837144	T	A	T128837144A	FLNC	NM_001458.5(FLNC):c.602-16T>A	noncoding	Benign/Likely_benign
7	128837167	C	A	C128837167A	FLNC	NM_001458.5(FLNC):c.609C>A:p.Cys203Ter	coding	Pathogenic
7	128837200	C	T	C128837200T	FLNC	NM_001458.5(FLNC):c.642C>T:p.Pro214=	coding	Benign/Likely_benign
7	128837222	A	G	A128837222G	FLNC	NM_001458.5(FLNC):c.664A>G:p.Met222Val	coding	Pathogenic
7	128837223	T	C	T128837223C	FLNC	NM_001458.5(FLNC):c.665T>C:p.Met222Thr	coding	Pathogenic
7	128837291	G	A	G128837291A	FLNC	NM_001458.5(FLNC):c.699+34G>A	noncoding	Benign
7	128838288	C	T	C128838288T	FLNC	NM_001458.5(FLNC):c.1069C>T:p.Gln357Ter	coding	Pathogenic
7	128838419	C	T	C128838419T	FLNC	NM_001458.5(FLNC):c.1200C>T:p.Ile400=	coding	Benign
7	128838746	G	A	G128838746A	FLNC	NM_001458.5(FLNC):c.1354G>A:p.Val452Met	coding	Benign/Likely_benign
7	128839011	G	A	G128839011A	FLNC	NM_001458.5(FLNC):c.1411+208G>A	noncoding	Benign
7	128840606	G	A	G128840606A	FLNC	NM_001458.5(FLNC):c.1608G>A:p.Glu536=	coding	Benign/Likely_benign
7	128840660	C	A	C128840660A	FLNC	NM_001458.5(FLNC):c.1662C>A:p.Tyr554Ter	coding	Pathogenic
7	128840737	C	G	C128840737G	FLNC	NM_001458.5(FLNC):c.1676+63C>G	noncoding	Benign
7	128840887	G	A	G128840887A	FLNC	NM_001458.5(FLNC):c.1730G>A:p.Trp577Ter	coding	Pathogenic
7	128840972	T	C	T128840972C	FLNC	NM_001458.5(FLNC):c.1813+2T>C	noncoding	Pathogenic
7	128840982	G	A	G128840982A	FLNC	NM_001458.5(FLNC):c.1813+12G>A	noncoding	Benign
7	128841006	G	A	G128841006A	FLNC	NM_001458.5(FLNC):c.1813+36G>A	noncoding	Benign/Likely_benign
7	128841246	C	G	C128841246G	FLNC	NM_001458.5(FLNC):c.1890C>G:p.Tyr630Ter	coding	Pathogenic
7	128841249	G	A	G128841249A	FLNC	NM_001458.5(FLNC):c.1893G>A:p.Trp631Ter	coding	Pathogenic
7	128841270	C	G	C128841270G	FLNC	NM_001458.5(FLNC):c.1914C>G:p.Tyr638Ter	coding	Pathogenic
7	128841309	C	T	C128841309T	FLNC	NM_001458.5(FLNC):c.1953C>T:p.Asp651=	coding	Benign/Likely_benign
7	128841332	T	G	T128841332G	FLNC	NM_001458.5(FLNC):c.1976T>G:p.Leu659Arg	coding	Benign/Likely_benign
7	128842204	T	C	T128842204C	FLNC	NM_001458.5(FLNC):c.2122-27T>C	noncoding	Benign/Likely_benign
7	128842234	G	A	G128842234A	FLNC	NM_001458.5(FLNC):c.2125G>A:p.Ala709Thr	coding	Benign/Likely_benign
7	128842289	G	A	G128842289A	FLNC	NM_001458.5(FLNC):c.2180G>A:p.Arg727His	coding	Benign/Likely_benign
7	128842415	C	A	C128842415A	FLNC	NM_001458.5(FLNC):c.2265+41C>A	noncoding	Benign
7	128842572	C	T	C128842572T	FLNC	NM_001458.5(FLNC):c.2266-3C>T	noncoding	Benign/Likely_benign
7	128842710	C	T	C128842710T	FLNC	NM_001458.5(FLNC):c.2389+12C>T	noncoding	Benign/Likely_benign
7	128842746	C	T	C128842746T	FLNC	NM_001458.5(FLNC):c.2389+48C>T	noncoding	Benign
7	128842752	G	T	G128842752T	FLNC	NM_001458.5(FLNC):c.2390-42G>T	noncoding	Benign
7	128842796	G	A	G128842796A	FLNC	NM_001458.5(FLNC):c.2392G>A:p.Asp798Asn	coding	Benign/Likely_benign
7	128842903	C	A	C128842903A	FLNC	NM_001458.5(FLNC):c.2499C>A:p.Tyr833Ter	coding	Pathogenic
7	128842911	C	A	C128842911A	FLNC	NM_001458.5(FLNC):c.2507C>A:p.Pro836Gln	coding	Benign/Likely_benign
7	128842952	C	T	C128842952T	FLNC	NM_001458.5(FLNC):c.2548C>T:p.Gln850Ter	coding	Pathogenic
7	128843173	T	C	T128843173C	FLNC	NM_001458.5(FLNC):c.2551-56T>C	noncoding	Benign
7	128843295	G	T	G128843295T	FLNC	NM_001458.5(FLNC):c.2617G>T:p.Glu873Ter	coding	Pathogenic
7	128843452	G	A	G128843452A	FLNC	NM_001458.5(FLNC):c.2686G>A:p.Gly896Arg	coding	Benign
7	128843822	T	A	T128843822A	FLNC	NM_001458.5(FLNC):c.2838T>A:p.Tyr946Ter	coding	Pathogenic/Likely_pathogenic
7	128844088	C	A	C128844088A	FLNC	NM_001458.5(FLNC):c.3014C>A:p.Ser1005Ter	coding	Pathogenic
7	128844144	C	T	C128844144T	FLNC	NM_001458.5(FLNC):c.3070C>T:p.Gln1024Ter	coding	Pathogenic
7	128844309	G	C	G128844309C	FLNC	NM_001458.5(FLNC):c.3192+43G>C	noncoding	Benign
7	128844510	C	T	C128844510T	FLNC	NM_001458.5(FLNC):c.3193-148C>T	noncoding	Benign
7	128845972	G	A	G128845972A	FLNC	NM_001458.5(FLNC):c.3791-18G>A	noncoding	Benign
7	128846011	C	G	C128846011G	FLNC	NM_001458.5(FLNC):c.3812C>G:p.Thr1271Ser	coding	Benign/Likely_benign
7	128846715	T	C	T128846715C	FLNC	NM_001458.5(FLNC):c.4128-30T>C	noncoding	Benign
7	128847647	G	A	G128847647A	FLNC	NM_001458.5(FLNC):c.4289-50G>A	noncoding	Benign
7	128847840	C	T	C128847840T	FLNC	NM_001458.5(FLNC):c.4432C>T:p.Gln1478Ter	coding	Pathogenic
7	128847865	G	A	G128847865A	FLNC	NM_001458.5(FLNC):c.4456+1G>A	coding	Pathogenic/Likely_pathogenic
7	128847877	C	T	C128847877T	FLNC	NM_001458.5(FLNC):c.4456+13C>T	noncoding	Benign/Likely_benign
7	128847878	G	A	G128847878A	FLNC	NM_001458.5(FLNC):c.4456+14G>A	noncoding	Benign/Likely_benign
7	128847880	G	A	G128847880A	FLNC	NM_001458.5(FLNC):c.4456+16G>A	noncoding	Benign
7	128847926	C	G	C128847926G	FLNC	NM_001458.5(FLNC):c.4457-19C>G	noncoding	Benign/Likely_benign
7	128848045	T	A	T128848045A	FLNC	NM_001458.5(FLNC):c.4557T>A:p.Tyr1519Ter	coding	Pathogenic
7	128848385	G	A	G128848385A	FLNC	NM_001458.5(FLNC):c.4581-176G>A	noncoding	Benign
7	128848402	T	C	T128848402C	FLNC	NM_001458.5(FLNC):c.4581-159T>C	noncoding	Benign
7	128848512	G	A	G128848512A	FLNC	NM_001458.5(FLNC):c.4581-49G>A	noncoding	Benign
7	128848556	T	A	T128848556A	FLNC	NM_001458.5(FLNC):c.4581-5T>A	noncoding	Benign/Likely_benign
7	128848616	G	A	G128848616A	FLNC	NM_001458.5(FLNC):c.4636G>A:p.Gly1546Ser	coding	Pathogenic
7	128848698	T	A	T128848698A	FLNC	NM_001458.5(FLNC):c.4718T>A:p.Leu1573Ter	coding	Pathogenic
7	128848732	A	G	A128848732G	FLNC	NM_001458.5(FLNC):c.4737+15A>G	noncoding	Benign/Likely_benign
7	128848746	G	A	G128848746A	FLNC	NM_001458.5(FLNC):c.4737+29G>A	noncoding	Benign
7	128848997	G	A	G128848997A	FLNC	NM_001458.5(FLNC):c.4927+15G>A	noncoding	Benign
7	128849506	C	T	C128849506T	FLNC	NM_001458.5(FLNC):c.5127C>T:p.Pro1709=	coding	Benign/Likely_benign
7	128849958	C	T	C128849958T	FLNC	NM_001458.5(FLNC):c.5200-18C>T	noncoding	Benign/Likely_benign
7	128850060	C	T	C128850060T	FLNC	NM_001458.5(FLNC):c.5284C>T:p.Arg1762Cys	coding	Benign/Likely_benign
7	128850368	C	T	C128850368T	FLNC	NM_001458.5(FLNC):c.5299-16C>T	noncoding	Benign/Likely_benign
7	128850821	C	A	C128850821A	FLNC	NM_001458.5(FLNC):c.5417C>A:p.Ser1806Ter	coding	Pathogenic
7	128850882	T	G	T128850882G	FLNC	NM_001458.5(FLNC):c.5478T>G:p.Tyr1826Ter	coding	Pathogenic/Likely_pathogenic
7	128850924	T	A	T128850924A	FLNC	NM_001458.5(FLNC):c.5520T>A:p.Tyr1840Ter	coding	Pathogenic
7	128851212	C	T	C128851212T	FLNC	NM_001458.5(FLNC):c.5540-20C>T	noncoding	Benign
7	128851540	T	A	T128851540A	FLNC	NM_001458.5(FLNC):c.5754T>A:p.Tyr1918Ter	coding	Pathogenic/Likely_pathogenic
7	128851552	G	A	G128851552A	FLNC	NM_001458.5(FLNC):c.5766G>A:p.Ala1922=	coding	Benign/Likely_benign
7	128851564	C	G	C128851564G	FLNC	NM_001458.5(FLNC):c.5778C>G:p.Tyr1926Ter	coding	Pathogenic
7	128851645	G	A	G128851645A	FLNC	NM_001458.5(FLNC):c.5842+17G>A	noncoding	Benign/Likely_benign
7	128851719	C	T	C128851719T	FLNC	NM_001458.5(FLNC):c.5842+91C>T	noncoding	Benign
7	128852614	C	T	C128852614T	FLNC	NM_001458.5(FLNC):c.5866C>T:p.Gln1956Ter	coding	Pathogenic
7	128852674	C	T	C128852674T	FLNC	NM_001458.5(FLNC):c.5926C>T:p.Gln1976Ter	coding	Pathogenic
7	128852854	G	A	G128852854A	FLNC	NM_001458.5(FLNC):c.6031G>A:p.Gly2011Arg	coding	Pathogenic/Likely_pathogenic
7	128853648	C	T	C128853648T	FLNC	NM_001458.5(FLNC):c.6361+27C>T	noncoding	Benign
7	128853698	C	G	C128853698G	FLNC	NM_001458.5(FLNC):c.6362-17C>G	noncoding	Benign/Likely_benign
7	128853892	G	C	G128853892C	FLNC	NM_001458.5(FLNC):c.6484+55G>C	noncoding	Benign
7	128853937	G	A	G128853937A	FLNC	NM_001458.5(FLNC):c.6485-37G>A	noncoding	Benign
7	128853980	G	A	G128853980A	FLNC	NM_001458.5(FLNC):c.6491G>A:p.Trp2164Ter	coding	Pathogenic
7	128854123	C	T	C128854123T	FLNC	NM_001458.5(FLNC):c.6634C>T:p.Gln2212Ter	coding	Pathogenic
7	128854210	C	T	C128854210T	FLNC	NM_001458.5(FLNC):c.6721C>T:p.Gln2241Ter	coding	Pathogenic
7	128854237	C	T	C128854237T	FLNC	NM_001458.5(FLNC):c.6727+21C>T	noncoding	Benign
7	128854487	G	T	G128854487T	FLNC	NM_001458.5(FLNC):c.6802G>T:p.Glu2268Ter	coding	Pathogenic
7	128854501	C	T	C128854501T	FLNC	NM_001458.5(FLNC):c.6816C>T:p.Ser2272=	coding	Benign/Likely_benign
7	128854719	G	C	G128854719C	FLNC	NM_001458.5(FLNC):c.6997+37G>C	noncoding	Benign
7	128854739	G	A	G128854739A	FLNC	NM_001458.5(FLNC):c.6998-36G>A	noncoding	Benign
7	128854791	G	A	G128854791A	FLNC	NM_001458.5(FLNC):c.7014G>A:p.Trp2338Ter	coding	Pathogenic
7	128854936	G	A	G128854936A	FLNC	NM_001458.5(FLNC):c.7135+24G>A	noncoding	Benign
7	128855165	C	G	C128855165G	FLNC	NM_001458.5(FLNC):c.7136-34C>G	noncoding	Benign
7	128855515	C	T	C128855515T	FLNC	NM_001458.5(FLNC):c.7251+201C>T	noncoding	Benign
7	128856345	C	T	C128856345T	FLNC	NM_001458.5(FLNC):c.7252-173C>T	noncoding	Benign
7	128856478	G	C	G128856478C	FLNC	NM_001458.5(FLNC):c.7252-40G>C	noncoding	Benign
7	128856673	A	T	A128856673T	FLNC	NM_001458.5(FLNC):c.7384+23A>T	noncoding	Benign
7	128856774	G	T	G128856774T	FLNC	NM_001458.5(FLNC):c.7414G>T:p.Glu2472Ter	coding	Pathogenic
7	128857165	G	A	G128857165A	FLNC	NM_001458.5(FLNC):c.7609G>A:p.Ala2537Thr	coding	Benign
7	128857360	C	T	C128857360T	FLNC	NM_001458.5(FLNC):c.7780+24C>T	noncoding	Benign
7	128857513	C	T	C128857513T	FLNC	NM_001458.5(FLNC):c.7780+177C>T	noncoding	Benign
7	128857884	A	G	A128857884G	FLNC	NM_001458.5(FLNC):c.7781-124A>G	noncoding	Benign
7	128857891	G	A	G128857891A	FLNC	NM_001458.5(FLNC):c.7781-117G>A	noncoding	Benign
7	128858207	C	A	C128858207A	FLNC	NM_001458.5(FLNC):c.7980C>A:p.Cys2660Ter	coding	Pathogenic
7	128858421	C	A	C128858421A	FLNC	NM_001458.5(FLNC):c.8076C>A:p.Tyr2692Ter	coding	Pathogenic/Likely_pathogenic
7	128858737	C	T	C128858737T	FLNC	NM_001458.5(FLNC):c.*214C>T	noncoding	Benign
7	128939612	G	A	G128939612A	IRF5	NM_001098629.3(IRF5):c.-12+1563G>A	noncoding	Benign
7	128970430	A	G	A128970430G	TNPO3	NM_012470.4(TNPO3):c.2431-115T>C	noncoding	Benign
7	128975955	T	C	T128975955C	TNPO3	NM_012470.4(TNPO3):c.2062-20A>G	noncoding	Benign
7	128990112	C	T	C128990112T	TNPO3	NM_012470.4(TNPO3):c.1359-12G>A	noncoding	Benign
7	128997372	T	C	T128997372C	TNPO3	NM_012470.4(TNPO3):c.1158+17A>G	noncoding	Benign/Likely_benign
7	129000414	T	C	T129000414C	TNPO3	NM_012470.4(TNPO3):c.1011+15A>G	noncoding	Benign
7	129015154	G	A	G129015154A	TNPO3	NM_012470.4(TNPO3):c.396-19C>T	noncoding	Benign
7	129018115	G	A	G129018115A	TNPO3	NM_012470.4(TNPO3):c.163C>T:p.Gln55Ter	coding	Pathogenic
7	129203328	C	T	C129203328T	SMO	NM_005631.5(SMO):c.332-56C>T	noncoding	Benign
7	129205177	C	T	C129205177T	SMO	NM_005631.5(SMO):c.538-26C>T	noncoding	Benign
7	129205436	G	C	G129205436C	SMO	NM_005631.5(SMO):c.747+24G>C	noncoding	Benign
7	129205458	T	C	T129205458C	SMO	NM_005631.5(SMO):c.747+46T>C	noncoding	Benign
7	129205484	G	A	G129205484A	SMO	NM_005631.5(SMO):c.747+72G>A	noncoding	Benign
7	129205861	C	T	C129205861T	SMO	NM_005631.5(SMO):c.920+79C>T	noncoding	Benign
7	129206066	T	C	T129206066C	SMO	NM_005631.5(SMO):c.921-84T>C	noncoding	Benign
7	129206366	G	A	G129206366A	SMO	NM_005631.5(SMO):c.1137G>A:p.Ala379=	coding	Benign
7	129206628	A	G	A129206628G	SMO	NM_005631.5(SMO):c.1264+41A>G	noncoding	Benign
7	129206875	A	G	A129206875G	SMO	NM_005631.5(SMO):c.1264+288A>G	noncoding	Benign
7	129208551	C	T	C129208551T	SMO	NM_005631.5(SMO):c.1265-208C>T	noncoding	Benign
7	129210093	G	C	G129210093C	SMO	NM_005631.5(SMO):c.1467-270G>C	noncoding	Benign
7	129210326	A	G	A129210326G	SMO	NM_005631.5(SMO):c.1467-37A>G	noncoding	Benign
7	129211034	T	C	T129211034C	SMO	NM_005631.5(SMO):c.1722T>C:p.Ser574=	coding	Benign
7	129212540	C	T	C129212540T	SMO	NM_005631.5(SMO):c.*89C>T	noncoding	Benign
7	129774400	G	A	G129774400A	MIR96	Single_allele	noncoding	Benign
7	130380075	C	A	C130380075A	CPA1	Single_allele	noncoding	Benign
7	130380224	C	T	C130380224T	CPA1	Single_allele	noncoding	Benign
7	130380728	A	G	A130380728G	CPA1	NM_001868.4(CPA1):c.65+143A>G	noncoding	Benign
7	130381008	G	A	G130381008A	CPA1	NM_001868.4(CPA1):c.66-90G>A	noncoding	Benign
7	130381490	C	T	C130381490T	CPA1	NM_001868.4(CPA1):c.148-140C>T	noncoding	Benign
7	130381853	C	T	C130381853T	CPA1	NM_001868.4(CPA1):c.371C>T:p.Thr124Ile	coding	Benign/Likely_benign
7	130381920	T	C	T130381920C	CPA1	NM_001868.4(CPA1):c.381+57T>C	noncoding	Benign
7	130383338	A	G	A130383338G	CPA1	NM_001868.4(CPA1):c.484-53A>G	noncoding	Benign
7	130383393	C	T	C130383393T	CPA1	NM_001868.4(CPA1):c.486C>T:p.Phe162=	coding	Benign/Likely_benign
7	130383669	C	G	C130383669G	CPA1	NM_001868.4(CPA1):c.586-15C>G	noncoding	Benign
7	130383681	C	A	C130383681A	CPA1	NM_001868.4(CPA1):c.586-3C>A	noncoding	Benign/Likely_benign
7	130383793	C	T	C130383793T	CPA1	NM_001868.4(CPA1):c.695C>T:p.Thr232Met	coding	Benign/Likely_benign
7	130384276	C	G	C130384276G	CPA1	NM_001868.4(CPA1):c.697-260C>G	noncoding	Benign
7	130384860	G	C	G130384860C	CPA1	NM_001868.4(CPA1):c.787+234G>C	noncoding	Benign
7	130385140	C	G	C130385140G	CPA1	NM_001868.4(CPA1):c.788-6C>G	noncoding	Benign
7	130385225	T	C	T130385225C	CPA1	NM_001868.4(CPA1):c.867T>C:p.Ile289=	coding	Benign/Likely_benign
7	130385527	G	C	G130385527C	CPA1	NM_001868.4(CPA1):c.987+182G>C	noncoding	Benign
7	130385939	G	C	G130385939C	CPA1	NM_001868.4(CPA1):c.1072+16G>C	noncoding	Benign
7	130386054	A	G	A130386054G	CPA1	NM_001868.4(CPA1):c.1072+131A>G	noncoding	Benign
7	130386212	G	C	G130386212C	CPA1	NM_001868.4(CPA1):c.1072+289G>C	noncoding	Benign
7	130387792	A	G	A130387792G	CPA1	NM_001868.4(CPA1):c.1073-32A>G	noncoding	Benign
7	130401960	A	G	A130401960G	CEP41	NM_018718.3(CEP41):c.575-12T>C	noncoding	Benign/Likely_benign
7	130402354	C	A	C130402354A	CEP41	NM_018718.3(CEP41):c.574+294G>T	noncoding	Benign
7	130428020	T	C	T130428020C	CEP41	NM_018718.3(CEP41):c.34-2A>G	noncoding	Pathogenic
7	131504335	A	G	A131504335G	PODXL	NM_001018111.3(PODXL):c.1653T>C:p.Asp551=	coding	Benign
7	131504528	C	T	C131504528T	PODXL	NM_001018111.3(PODXL):c.1480-20G>A	noncoding	Benign
7	131505723	G	A	G131505723A	PODXL	NM_001018111.3(PODXL):c.1479+145C>T	noncoding	Benign
7	131505795	C	G	C131505795G	PODXL	NM_001018111.3(PODXL):c.1479+73G>C	noncoding	Benign
7	131505937	T	C	T131505937C	PODXL	NM_001018111.3(PODXL):c.1410A>G:p.Ala470=	coding	Benign
7	131506254	G	A	G131506254A	PODXL	NM_001018111.3(PODXL):c.1311+6C>T	noncoding	Benign
7	131506607	G	T	G131506607T	PODXL	NM_001018111.3(PODXL):c.1221C>A:p.Thr407=	coding	Benign
7	131506702	A	G	A131506702G	PODXL	NM_001018111.3(PODXL):c.1126T>C:p.Leu376=	coding	Benign
7	131506777	A	G	A131506777G	PODXL	NM_001018111.3(PODXL):c.1102-51T>C	noncoding	Benign
7	131506850	A	G	A131506850G	PODXL	NM_001018111.3(PODXL):c.1102-124T>C	noncoding	Benign
7	131506932	T	C	T131506932C	PODXL	NM_001018111.3(PODXL):c.1102-206A>G	noncoding	Benign
7	131508936	C	A	C131508936A	PODXL	NM_001018111.3(PODXL):c.1101+15G>T	noncoding	Benign
7	131508980	C	T	C131508980T	PODXL	NM_001018111.3(PODXL):c.1072G>A:p.Val358Ile	coding	Benign
7	131509104	G	C	G131509104C	PODXL	NM_001018111.3(PODXL):c.1024-76C>G	noncoding	Benign
7	131509126	C	T	C131509126T	PODXL	NM_001018111.3(PODXL):c.1024-98G>A	noncoding	Benign
7	131509496	G	C	G131509496C	PODXL	NM_001018111.3(PODXL):c.892C>G:p.Pro298Ala	coding	Benign
7	131509532	T	C	T131509532C	PODXL	NM_001018111.3(PODXL):c.856A>G:p.Ser286Gly	coding	Benign
7	131509602	G	A	G131509602A	PODXL	NM_001018111.3(PODXL):c.803-17C>T	noncoding	Benign
7	131509633	G	A	G131509633A	PODXL	NM_001018111.3(PODXL):c.803-48C>T	noncoding	Benign
7	131510772	T	C	T131510772C	PODXL	NM_001018111.3(PODXL):c.706+56A>G	noncoding	Benign
7	131510776	G	T	G131510776T	PODXL	NM_001018111.3(PODXL):c.706+52C>A	noncoding	Benign
7	131510953	G	A	G131510953A	PODXL	NM_001018111.3(PODXL):c.581C>T:p.Ser194Leu	coding	Benign
7	131511177	G	A	G131511177A	PODXL	NM_001018111.3(PODXL):c.357C>T:p.Thr119=	coding	Benign
7	131511200	C	T	C131511200T	PODXL	NM_001018111.3(PODXL):c.334G>A:p.Gly112Ser	coding	Benign
7	131511303	C	T	C131511303T	PODXL	NM_001018111.3(PODXL):c.231G>A:p.Ser77=	coding	Benign
7	131511447	T	C	T131511447C	PODXL	NM_001018111.3(PODXL):c.101-14A>G	noncoding	Benign
7	131536435	G	A	G131536435A	PODXL	NM_001018111.3(PODXL):c.100+19825C>T	noncoding	Benign
7	131556139	G	C	G131556139C	PODXL	NM_001018111.3(PODXL):c.100+121C>G	noncoding	Benign
7	131556326	G	A	G131556326A	PODXL	NM_001018111.3(PODXL):c.34C>T:p.Leu12=	coding	Benign
7	131556603	G	T	G131556603T	PODXL	NM_001018111.3(PODXL):c.-244C>A	noncoding	Benign
7	135187023	C	T	C135187023T	WDR91	NM_014149.4(WDR91):c.2028G>A:p.Ser676=	coding	Benign
7	135557703	A	G	A135557703G	NUP205	Single_allele	noncoding	Benign
7	135557940	C	T	C135557940T	NUP205	NM_015135.3(NUP205):c.-5C>T	noncoding	Benign
7	135557955	C	T	C135557955T	NUP205	NM_015135.3(NUP205):c.11C>T:p.Pro4Leu	coding	Benign
7	135558162	C	T	C135558162T	NUP205	NM_015135.3(NUP205):c.28+190C>T	noncoding	Benign
7	135558225	T	G	T135558225G	NUP205	NM_015135.3(NUP205):c.28+253T>G	noncoding	Benign
7	135571078	G	A	G135571078A	NUP205	NM_015135.3(NUP205):c.29-27G>A	noncoding	Benign
7	135571298	C	T	C135571298T	NUP205	NM_015135.3(NUP205):c.171+51C>T	noncoding	Benign
7	135573930	C	A	C135573930A	NUP205	NM_015135.3(NUP205):c.343+105C>A	noncoding	Benign
7	135574107	A	G	A135574107G	NUP205	NM_015135.3(NUP205):c.343+282A>G	noncoding	Benign
7	135576261	C	G	C135576261G	NUP205	NM_015135.3(NUP205):c.344-9C>G	noncoding	Benign/Likely_benign
7	135576429	T	C	T135576429C	NUP205	NM_015135.3(NUP205):c.488+15T>C	noncoding	Benign
7	135576582	T	C	T135576582C	NUP205	NM_015135.3(NUP205):c.488+168T>C	noncoding	Benign
7	135576941	G	A	G135576941A	NUP205	NM_015135.3(NUP205):c.489-28G>A	noncoding	Benign
7	135577140	A	G	A135577140G	NUP205	NM_015135.3(NUP205):c.648+12A>G	noncoding	Benign
7	135577581	T	C	T135577581C	NUP205	NM_015135.3(NUP205):c.649-215T>C	noncoding	Benign
7	135577785	T	C	T135577785C	NUP205	NM_015135.3(NUP205):c.649-11T>C	noncoding	Benign
7	135578987	A	G	A135578987G	NUP205	NM_015135.3(NUP205):c.1042+72A>G	noncoding	Benign
7	135579184	C	T	C135579184T	NUP205	NM_015135.3(NUP205):c.1042+269C>T	noncoding	Benign
7	135584907	T	C	T135584907C	NUP205	NM_015135.3(NUP205):c.1118T>C:p.Met373Thr	coding	Benign
7	135584908	G	A	G135584908A	NUP205	NM_015135.3(NUP205):c.1119G>A:p.Met373Ile	coding	Benign
7	135585089	T	C	T135585089C	NUP205	NM_015135.3(NUP205):c.1218+82T>C	noncoding	Benign
7	135587522	T	C	T135587522C	NUP205	NM_015135.3(NUP205):c.1219-53T>C	noncoding	Benign
7	135587559	C	G	C135587559G	NUP205	NM_015135.3(NUP205):c.1219-16C>G	noncoding	Benign/Likely_benign
7	135588192	G	A	G135588192A	NUP205	NM_015135.3(NUP205):c.1473+200G>A	noncoding	Benign
7	135591737	G	A	G135591737A	NUP205	NM_015135.3(NUP205):c.1624+137G>A	noncoding	Benign
7	135592899	T	C	T135592899C	NUP205	NM_015135.3(NUP205):c.1625-88T>C	noncoding	Benign
7	135592968	G	T	G135592968T	NUP205	NM_015135.3(NUP205):c.1625-19G>T	noncoding	Benign
7	135594567	A	C	A135594567C	NUP205	NM_015135.3(NUP205):c.1851A>C:p.Ala617=	coding	Benign
7	135597161	C	T	C135597161T	NUP205	NM_015135.3(NUP205):c.2014-207C>T	noncoding	Benign
7	135597637	A	G	A135597637G	NUP205	NM_015135.3(NUP205):c.2064+219A>G	noncoding	Benign
7	135597950	A	G	A135597950G	NUP205	NM_015135.3(NUP205):c.2065-48A>G	noncoding	Benign
7	135601040	T	C	T135601040C	NUP205	NM_015135.3(NUP205):c.2374+71T>C	noncoding	Benign
7	135601422	G	A	G135601422A	NUP205	NM_015135.3(NUP205):c.2427G>A:p.Leu809=	coding	Benign
7	135601733	C	G	C135601733G	NUP205	NM_015135.3(NUP205):c.2512+226C>G	noncoding	Benign
7	135604680	T	C	T135604680C	NUP205	NM_015135.3(NUP205):c.2823+220T>C	noncoding	Benign
7	135606253	C	T	C135606253T	NUP205	NM_015135.3(NUP205):c.2905+27C>T	noncoding	Benign
7	135606884	A	T	A135606884T	NUP205	NM_015135.3(NUP205):c.3039A>T:p.Lys1013Asn	coding	Benign
7	135607332	G	A	G135607332A	NUP205	NM_015135.3(NUP205):c.3156G>A:p.Ala1052=	coding	Benign/Likely_benign
7	135607350	G	A	G135607350A	NUP205	NM_015135.3(NUP205):c.3174G>A:p.Gln1058=	coding	Benign
7	135607531	A	G	A135607531G	NUP205	NM_015135.3(NUP205):c.3195+160A>G	noncoding	Benign
7	135614110	G	A	G135614110A	NUP205	NM_015135.3(NUP205):c.3196-49G>A	noncoding	Benign
7	135614580	G	A	G135614580A	NUP205	NM_015135.3(NUP205):c.3310+307G>A	noncoding	Benign
7	135616070	G	C	G135616070C	NUP205	NM_015135.3(NUP205):c.3460+5G>C	noncoding	Benign
7	135616154	T	C	T135616154C	NUP205	NM_015135.3(NUP205):c.3460+89T>C	noncoding	Benign
7	135616267	A	G	A135616267G	NUP205	NM_015135.3(NUP205):c.3460+202A>G	noncoding	Benign
7	135616313	T	C	T135616313C	NUP205	NM_015135.3(NUP205):c.3460+248T>C	noncoding	Benign
7	135617927	T	G	T135617927G	NUP205	NM_015135.3(NUP205):c.3771+245T>G	noncoding	Benign
7	135619467	C	T	C135619467T	NUP205	NM_015135.3(NUP205):c.4008C>T:p.Ala1336=	coding	Benign/Likely_benign
7	135619525	G	C	G135619525C	NUP205	NM_015135.3(NUP205):c.4066G>C:p.Glu1356Gln	coding	Benign
7	135619608	C	T	C135619608T	NUP205	NM_015135.3(NUP205):c.4149C>T:p.Asn1383=	coding	Benign
7	135619779	A	C	A135619779C	NUP205	NM_015135.3(NUP205):c.4232-11A>C	noncoding	Benign/Likely_benign
7	135620082	C	T	C135620082T	NUP205	NM_015135.3(NUP205):c.4330+194C>T	noncoding	Benign
7	135622545	A	G	A135622545G	NUP205	NM_015135.3(NUP205):c.4331-232A>G	noncoding	Benign
7	135625378	T	C	T135625378C	NUP205	NM_015135.3(NUP205):c.4671+23T>C	noncoding	Benign
7	135625457	A	G	A135625457G	NUP205	NM_015135.3(NUP205):c.4671+102A>G	noncoding	Benign
7	135626112	G	A	G135626112A	NUP205	NM_015135.3(NUP205):c.4672-128G>A	noncoding	Benign
7	135626372	G	A	G135626372A	NUP205	NM_015135.3(NUP205):c.4793+11G>A	noncoding	Benign
7	135626419	G	A	G135626419A	NUP205	NM_015135.3(NUP205):c.4793+58G>A	noncoding	Benign
7	135626613	G	A	G135626613A	NUP205	NM_015135.3(NUP205):c.4793+252G>A	noncoding	Benign
7	135627719	C	G	C135627719G	NUP205	NM_015135.3(NUP205):c.4794-254C>G	noncoding	Benign
7	135627824	G	A	G135627824A	NUP205	NM_015135.3(NUP205):c.4794-149G>A	noncoding	Benign
7	135630610	A	T	A135630610T	NUP205	NM_015135.3(NUP205):c.5059+140A>T	noncoding	Benign
7	135635572	A	G	A135635572G	NUP205	NM_015135.3(NUP205):c.5060-9A>G	noncoding	Benign
7	135637916	T	C	T135637916C	NUP205	NM_015135.3(NUP205):c.5137-15T>C	noncoding	Benign
7	135638105	T	C	T135638105C	NUP205	NM_015135.3(NUP205):c.5265+46T>C	noncoding	Benign
7	135638294	T	G	T135638294G	NUP205	NM_015135.3(NUP205):c.5265+235T>G	noncoding	Benign
7	135638724	G	T	G135638724T	NUP205	NM_015135.3(NUP205):c.5392+41G>T	noncoding	Benign
7	135638828	G	A	G135638828A	NUP205	NM_015135.3(NUP205):c.5392+145G>A	noncoding	Benign
7	135638860	C	A	C135638860A	NUP205	NM_015135.3(NUP205):c.5392+177C>A	noncoding	Benign
7	135642887	T	A	T135642887A	NUP205	NM_015135.3(NUP205):c.5393-305T>A	noncoding	Benign
7	135643105	G	A	G135643105A	NUP205	NM_015135.3(NUP205):c.5393-87G>A	noncoding	Benign
7	135643362	C	T	C135643362T	NUP205	NM_015135.3(NUP205):c.5559+4C>T	noncoding	Benign
7	135643506	C	T	C135643506T	NUP205	NM_015135.3(NUP205):c.5559+148C>T	noncoding	Benign
7	135644578	A	C	A135644578C	NUP205	NM_015135.3(NUP205):c.5560-317A>C	noncoding	Benign
7	135644942	T	C	T135644942C	NUP205	NM_015135.3(NUP205):c.5607T>C:p.Ala1869=	coding	Benign
7	135645230	T	C	T135645230C	NUP205	NM_015135.3(NUP205):c.5683+212T>C	noncoding	Benign
7	135646081	C	A	C135646081A	NUP205	NM_015135.3(NUP205):c.5813-77C>A	noncoding	Benign
7	135648076	C	T	C135648076T	NUP205	NM_015135.3(NUP205):c.5887-328C>T	noncoding	Benign
7	135648280	A	G	A135648280G	NUP205	NM_015135.3(NUP205):c.5887-124A>G	noncoding	Benign
7	135648424	C	T	C135648424T	NUP205	NM_015135.3(NUP205):c.5907C>T:p.Asn1969=	coding	Benign
7	136992241	T	C	T136992241C	CHRM2	NM_001006630.2(CHRM2):c.-70T>C	noncoding	Benign
7	137015051	A	G	A137015051G	CHRM2	NM_001006630.2(CHRM2):c.186A>G:p.Leu62=	coding	Benign
7	137016504	C	G	C137016504G	CHRM2	NM_001006630.2(CHRM2):c.*238C>G	noncoding	Benign
7	138088545	T	G	T138088545G	AKR1D1	NM_005989.4(AKR1D1):c.94-56T>G	noncoding	Benign
7	138088655	C	T	C138088655T	AKR1D1	NM_005989.4(AKR1D1):c.148C>T:p.Arg50Ter	coding	Pathogenic
7	138088817	T	G	T138088817G	AKR1D1	NM_005989.4(AKR1D1):c.261+49T>G	noncoding	Benign
7	138089061	T	A	T138089061A	AKR1D1	NM_005989.4(AKR1D1):c.261+293T>A	noncoding	Benign
7	138091494	G	A	G138091494A	AKR1D1	NM_005989.4(AKR1D1):c.262-274G>A	noncoding	Benign
7	138091735	C	T	C138091735T	AKR1D1	NM_005989.4(AKR1D1):c.262-33C>T	noncoding	Benign
7	138105191	G	T	G138105191T	AKR1D1	NM_005989.4(AKR1D1):c.457-116G>T	noncoding	Benign
7	138107028	A	C	A138107028C	AKR1D1	NM_005989.4(AKR1D1):c.689+311A>C	noncoding	Benign
7	138107674	A	G	A138107674G	AKR1D1	NM_005989.4(AKR1D1):c.855+94A>G	noncoding	Benign
7	138113501	C	G	C138113501G	AKR1D1	NM_005989.4(AKR1D1):c.856-189C>G	noncoding	Benign
7	138113847	A	T	A138113847T	AKR1D1	NM_005989.4(AKR1D1):c.938+75A>T	noncoding	Benign
7	138706701	T	C	T138706701C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2446A>G:p.Lys816Glu	coding	Pathogenic
7	138706809	G	A	G138706809A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2430-92C>T	noncoding	Benign
7	138706851	A	G	A138706851G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2430-134T>C	noncoding	Benign
7	138709745	G	A	G138709745A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2308C>T:p.Arg770Ter	coding	Pathogenic/Likely_pathogenic
7	138709806	C	T	C138709806T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2258-11G>A	noncoding	Benign
7	138715763	C	T	C138715763T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2257+1G>A	noncoding	Pathogenic
7	138716051	C	T	C138716051T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2140-170G>A	noncoding	Benign
7	138716113	A	C	A138716113C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2140-232T>G	noncoding	Benign
7	138721623	C	T	C138721623T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2139+274G>A	noncoding	Benign
7	138721659	G	A	G138721659A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2139+238C>T	noncoding	Benign
7	138729008	G	A	G138729008A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1909-146C>T	noncoding	Benign
7	138729157	A	G	A138729157G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1909-295T>C	noncoding	Benign
7	138732913	G	T	G138732913T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1872C>A:p.Tyr624Ter	coding	Pathogenic
7	138733142	G	A	G138733142A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1692-49C>T	noncoding	Benign
7	138733937	A	T	A138733937T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1691+199T>A	noncoding	Benign
7	138734340	A	G	A138734340G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1573-86T>C	noncoding	Benign
7	138739278	G	A	G138739278A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1572+262C>T	noncoding	Benign
7	138739301	T	C	T138739301C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1572+239A>G	noncoding	Benign
7	138739466	C	T	C138739466T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1572+74G>A	noncoding	Benign
7	138739540	C	T	C138739540T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1572G>A:p.Pro524=	coding	Pathogenic
7	138739674	C	T	C138739674T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1479-41G>A	noncoding	Benign
7	138739759	G	A	G138739759A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1479-126C>T	noncoding	Benign
7	138745078	C	T	C138745078T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1478+45G>A	noncoding	Benign
7	138745121	A	C	A138745121C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1478+2T>G	noncoding	Pathogenic
7	138745134	G	A	G138745134A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1467C>T:p.Asn489=	coding	Benign
7	138747398	A	G	A138747398G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1320+27T>C	noncoding	Benign
7	138747609	C	T	C138747609T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1181-45G>A	noncoding	Benign
7	138749319	T	G	T138749319G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1030-2A>C	noncoding	Pathogenic
7	138752389	C	G	C138752389G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1029+236G>C	noncoding	Benign
7	138752895	G	A	G138752895A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.817-58C>T	noncoding	Benign
7	138752969	C	T	C138752969T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.817-132G>A	noncoding	Benign
7	138753068	C	T	C138753068T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.817-231G>A	noncoding	Benign
7	138755420	A	T	A138755420T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.816+269T>A	noncoding	Benign
7	138755515	C	T	C138755515T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.816+174G>A	noncoding	Benign
7	138755670	G	A	G138755670A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.816+19C>T	noncoding	Benign
7	138755862	G	A	G138755862A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.723-80C>T	noncoding	Benign
7	138756063	C	T	C138756063T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.723-281G>A	noncoding	Benign
7	138756187	C	G	C138756187G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.722+271G>C	noncoding	Benign
7	138756338	A	C	A138756338C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.722+120T>G	noncoding	Benign
7	138756379	A	G	A138756379G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.722+79T>C	noncoding	Benign
7	138756570	G	A	G138756570A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.640-30C>T	noncoding	Benign
7	138759534	G	A	G138759534A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.639+218C>T	noncoding	Benign
7	138759687	C	T	C138759687T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.639+65G>A	noncoding	Benign
7	138759992	C	T	C138759992T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.513-114G>A	noncoding	Benign
7	138762253	A	G	A138762253G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.512+87T>C	noncoding	Benign
7	138762650	G	A	G138762650A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.418-216C>T	noncoding	Benign
7	138763026	C	T	C138763026T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.292-1G>A	coding	Pathogenic
7	138763067	T	C	T138763067C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.292-42A>G	noncoding	Benign
7	138768501	C	T	C138768501T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.291+279G>A	noncoding	Benign
7	138768559	G	C	G138768559C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.291+221C>G	noncoding	Benign
7	138768569	C	G	C138768569G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.291+211G>C	noncoding	Benign
7	138768607	G	A	G138768607A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.291+173C>T	noncoding	Benign
7	138768643	G	A	G138768643A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.291+137C>T	noncoding	Benign
7	138768694	A	T	A138768694T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.291+86T>A	noncoding	Benign
7	138768703	G	C	G138768703C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.291+77C>G	noncoding	Benign
7	138769261	C	T	C138769261T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.118-10G>A	noncoding	Benign
7	138771232	G	A	G138771232A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.16C>T:p.Arg6Ter	coding	Pathogenic
7	138771421	A	G	A138771421G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.-17-157T>C	noncoding	Benign
7	138771533	C	T	C138771533T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.-17-269G>A	noncoding	Benign
7	138840208	C	T	C138840208T	KIAA1549	NM_001164665.2(KIAA1549):c.5523G>A:p.Pro1841=	coding	Benign
7	138840262	G	A	G138840262A	KIAA1549	NM_001164665.2(KIAA1549):c.5469C>T:p.His1823=	coding	Benign
7	138852264	G	A	G138852264A	KIAA1549	NM_001164665.2(KIAA1549):c.5253C>T:p.Tyr1751=	coding	Benign
7	138861250	G	A	G138861250A	KIAA1549	NM_001164665.2(KIAA1549):c.5136C>T:p.Pro1712=	coding	Benign
7	138861470	T	C	T138861470C	KIAA1549	NM_001164665.2(KIAA1549):c.4930-14A>G	noncoding	Benign
7	138881595	C	G	C138881595G	KIAA1549	NM_001164665.2(KIAA1549):c.4033-11G>C	noncoding	Benign
7	138881603	C	T	C138881603T	KIAA1549	NM_001164665.2(KIAA1549):c.4033-19G>A	noncoding	Benign
7	138899094	C	A	C138899094A	KIAA1549	NM_001164665.2(KIAA1549):c.3708G>T:p.Pro1236=	coding	Benign
7	138903664	T	C	T138903664C	KIAA1549	NM_001164665.2(KIAA1549):c.3593A>G:p.Gln1198Arg	coding	Benign
7	138905096	G	A	G138905096A	KIAA1549	NM_001164665.2(KIAA1549):c.3461-15C>T	noncoding	Benign
7	138908998	G	T	G138908998T	KIAA1549	NM_001164665.2(KIAA1549):c.3269C>A:p.Thr1090Lys	coding	Benign
7	138911255	G	A	G138911255A	KIAA1549	NM_001164665.2(KIAA1549):c.3036C>T:p.Ser1012=	coding	Benign
7	138911318	G	A	G138911318A	KIAA1549	NM_001164665.2(KIAA1549):c.2973C>T:p.Tyr991=	coding	Benign
7	138912479	C	A	C138912479A	KIAA1549	NM_001164665.2(KIAA1549):c.2879-19G>T	noncoding	Benign
7	138916826	C	T	C138916826T	KIAA1549	NM_001164665.2(KIAA1549):c.2800G>A:p.Asp934Asn	coding	Benign
7	138916960	C	A	C138916960A	KIAA1549	NM_001164665.2(KIAA1549):c.2666G>T:p.Gly889Val	coding	Benign
7	138917080	G	A	G138917080A	KIAA1549	NM_001164665.2(KIAA1549):c.2546C>T:p.Ser849Leu	coding	Benign
7	138917310	G	A	G138917310A	KIAA1549	NM_001164665.2(KIAA1549):c.2316C>T:p.Pro772=	coding	Benign
7	138917312	G	A	G138917312A	KIAA1549	NM_001164665.2(KIAA1549):c.2314C>T:p.Pro772Ser	coding	Benign
7	138917325	A	G	A138917325G	KIAA1549	NM_001164665.2(KIAA1549):c.2301T>C:p.Thr767=	coding	Benign
7	138917445	G	A	G138917445A	KIAA1549	NM_001164665.2(KIAA1549):c.2181C>T:p.Leu727=	coding	Benign
7	138917526	G	A	G138917526A	KIAA1549	NM_001164665.2(KIAA1549):c.2100C>T:p.Ser700=	coding	Benign
7	138917671	G	A	G138917671A	KIAA1549	NM_001164665.2(KIAA1549):c.1955C>T:p.Pro652Leu	coding	Benign
7	138917686	G	C	G138917686C	KIAA1549	NM_001164665.2(KIAA1549):c.1940C>G:p.Ser647Cys	coding	Benign
7	138917772	A	G	A138917772G	KIAA1549	NM_001164665.2(KIAA1549):c.1854T>C:p.Gly618=	coding	Benign
7	138917777	T	C	T138917777C	KIAA1549	NM_001164665.2(KIAA1549):c.1849A>G:p.Arg617Gly	coding	Benign
7	138918170	G	C	G138918170C	KIAA1549	NM_001164665.2(KIAA1549):c.1456C>G:p.Pro486Ala	coding	Benign
7	138918228	G	A	G138918228A	KIAA1549	NM_001164665.2(KIAA1549):c.1398C>T:p.Ser466=	coding	Benign
7	138918536	T	C	T138918536C	KIAA1549	NM_001164665.2(KIAA1549):c.1090A>G:p.Thr364Ala	coding	Benign
7	138919425	C	T	C138919425T	KIAA1549	NM_001164665.2(KIAA1549):c.201G>A:p.Pro67=	coding	Benign
7	138981140	G	A	G138981140A	KIAA1549	NM_001164665.2(KIAA1549):c.130C>T:p.Leu44=	coding	Benign
7	138981228	C	T	C138981228T	KIAA1549	NM_001164665.2(KIAA1549):c.42G>A:p.Glu14=	coding	Benign
7	139134654	G	C	G139134654C	TTC26	NM_024926.4(TTC26):c.4-1G>C	noncoding	Pathogenic
7	139134699	C	T	C139134699T	TTC26	NM_024926.4(TTC26):c.48C>T:p.His16=	coding	Benign
7	139148190	T	C	T139148190C	TTC26	NM_024926.4(TTC26):c.546-16T>C	noncoding	Benign
7	139161018	A	G	A139161018G	TTC26	NM_024926.4(TTC26):c.788A>G:p.Asn263Ser	coding	Pathogenic/Likely_pathogenic
7	139178495	G	A	G139178495A	TTC26	NM_024926.4(TTC26):c.1159-20G>A	noncoding	Benign
7	139181110	C	T	C139181110T	TTC26	NM_024926.4(TTC26):c.1331C>T:p.Pro444Leu	coding	Pathogenic
7	139187548	A	G	A139187548G	TTC26	NM_024926.4(TTC26):c.1553+9A>G	noncoding	Benign
7	139189342	C	T	C139189342T	TTC26	NM_024926.4(TTC26):c.1575C>T:p.Leu525=	coding	Benign
7	139828863	G	T	G139828863T	TBXAS1	NM_001130966.5(TBXAS1):c.-79-449G>T	noncoding	Benign
7	139829465	G	A	G139829465A	TBXAS1	NM_001061.7(TBXAS1):c.75G>A:p.Leu25=	coding	Benign
7	139875594	G	T	G139875594T	TBXAS1	NM_001061.7(TBXAS1):c.193G>T:p.Glu65Ter	coding	Pathogenic
7	139911340	G	A	G139911340A	TBXAS1	NM_001061.7(TBXAS1):c.333+19G>A	noncoding	Benign
7	139936176	G	A	G139936176A	TBXAS1	NM_001061.7(TBXAS1):c.334-15G>A	noncoding	Benign
7	139953397	C	A	C139953397A	TBXAS1	NM_001061.7(TBXAS1):c.480C>A:p.Asp160Glu	coding	Benign/Likely_benign
7	139955626	C	T	C139955626T	TBXAS1	NM_001061.7(TBXAS1):c.688+19C>T	noncoding	Benign
7	139957422	T	C	T139957422C	TBXAS1	NM_001061.7(TBXAS1):c.689-212T>C	noncoding	Benign
7	139957671	T	C	T139957671C	TBXAS1	NM_001061.7(TBXAS1):c.726T>C:p.Ile242=	coding	Benign
7	139962098	C	T	C139962098T	TBXAS1	NM_001061.7(TBXAS1):c.999C>T:p.Gly333=	coding	Benign
7	140007157	C	T	C140007157T	TBXAS1	NM_001061.7(TBXAS1):c.1201C>T:p.Leu401=	coding	Benign
7	140007340	A	G	A140007340G	TBXAS1	NM_001061.7(TBXAS1):c.1226+158A>G	noncoding	Benign
7	140015542	A	G	A140015542G	TBXAS1	NM_001061.7(TBXAS1):c.1227-181A>G	noncoding	Benign
7	140015766	C	T	C140015766T	TBXAS1	NM_001061.7(TBXAS1):c.1270C>T:p.Arg424Cys	coding	Benign/Likely_benign
7	140015845	C	A	C140015845A	TBXAS1	NM_001061.7(TBXAS1):c.1349C>A:p.Thr450Asn	coding	Benign/Likely_benign
7	140017378	T	C	T140017378C	TBXAS1	NM_001061.7(TBXAS1):c.1365-293T>C	noncoding	Benign
7	140017859	G	A	G140017859A	TBXAS1	NM_001061.7(TBXAS1):c.1527+26G>A	noncoding	Benign
7	140020029	C	T	C140020029T	TBXAS1	NM_001061.7(TBXAS1):c.1532C>T:p.Pro511Leu	coding	Benign
7	140020084	G	A	G140020084A	TBXAS1	NM_001061.7(TBXAS1):c.1587G>A:p.Lys529=	coding	Benign
7	140734707	G	A	G140734707A	BRAF	NM_004333.6(BRAF):c.2191C>T:p.Pro731Ser	coding	Pathogenic
7	140734796	A	G	A140734796G	BRAF	NM_004333.6(BRAF):c.2128-26T>C	noncoding	Benign
7	140734804	A	G	A140734804G	BRAF	NM_004333.6(BRAF):c.2128-34T>C	noncoding	Benign
7	140734820	A	G	A140734820G	BRAF	NM_004333.6(BRAF):c.2128-50T>C	noncoding	Benign
7	140735045	T	C	T140735045C	BRAF	NM_004333.6(BRAF):c.2128-275A>G	noncoding	Benign
7	140739529	G	A	G140739529A	BRAF	NM_004333.6(BRAF):c.2127+283C>T	noncoding	Benign
7	140739814	G	C	G140739814C	BRAF	NM_004333.6(BRAF):c.2125C>G:p.Gln709Glu	coding	Pathogenic
7	140740187	T	A	T140740187A	BRAF	NM_004333.6(BRAF):c.1993-241A>T	noncoding	Benign
7	140753167	T	C	T140753167C	BRAF	NM_004333.6(BRAF):c.1860+108A>G	noncoding	Benign
7	140753259	T	C	T140753259C	BRAF	NM_004333.6(BRAF):c.1860+16A>G	noncoding	Benign/Likely_benign
7	140754190	T	C	T140754190C	BRAF	NM_004333.6(BRAF):c.1738A>G:p.Asn580Asp	coding	Pathogenic
7	140754233	A	C	A140754233C	BRAF	NM_004333.6(BRAF):c.1695T>G:p.Asp565Glu	coding	Pathogenic/Likely_pathogenic
7	140754323	A	T	A140754323T	BRAF	NM_004333.6(BRAF):c.1695-90T>A	noncoding	Benign
7	140777010	A	G	A140777010G	BRAF	NM_004333.6(BRAF):c.1596T>C:p.Cys532=	coding	Benign
7	140777015	A	G	A140777015G	BRAF	NM_004333.6(BRAF):c.1591T>C:p.Trp531Arg	coding	Pathogenic
7	140777927	T	C	T140777927C	BRAF	NM_004333.6(BRAF):c.1517+64A>G	noncoding	Benign
7	140778054	A	C	A140778054C	BRAF	NM_004333.6(BRAF):c.1454T>G:p.Leu485Trp	coding	Pathogenic
7	140778066	G	T	G140778066T	BRAF	NM_004333.6(BRAF):c.1442C>A:p.Ala481Glu	coding	Pathogenic/Likely_pathogenic
7	140781597	C	A	C140781597A	BRAF	NM_004333.6(BRAF):c.1411G>T:p.Val471Phe	coding	Pathogenic/Likely_pathogenic
7	140781678	G	T	G140781678T	BRAF	NM_004333.6(BRAF):c.1330C>A:p.Arg444=	coding	Benign/Likely_benign
7	140782546	G	A	G140782546A	BRAF	NM_004333.6(BRAF):c.1314+475C>T	noncoding	Benign
7	140783428	A	G	A140783428G	BRAF	NM_004333.6(BRAF):c.1178-271T>C	noncoding	Benign/Likely_benign
7	140786475	G	A	G140786475A	BRAF	NM_004333.6(BRAF):c.1177+1073C>T	noncoding	Benign
7	140786589	T	C	T140786589C	BRAF	NM_004333.6(BRAF):c.1177+959A>G	noncoding	Benign
7	140787694	C	T	C140787694T	BRAF	NM_004333.6(BRAF):c.1141-110G>A	noncoding	Benign
7	140791785	C	G	C140791785G	BRAF	NM_004333.6(BRAF):c.1140+2523G>C	noncoding	Benign
7	140794263	T	C	T140794263C	BRAF	NM_004333.6(BRAF):c.1140+45A>G	noncoding	Benign
7	140794364	G	T	G140794364T	BRAF	NM_004333.6(BRAF):c.1084C>A:p.Arg362=	coding	Benign/Likely_benign
7	140794509	G	A	G140794509A	BRAF	NM_004333.6(BRAF):c.981-42C>T	noncoding	Benign
7	140796699	T	A	T140796699A	BRAF	NM_004333.6(BRAF):c.981-2232A>T	noncoding	Benign
7	140797484	G	C	G140797484C	BRAF	NM_004333.6(BRAF):c.980+2878C>G	noncoding	Benign
7	140800278	T	C	T140800278C	BRAF	NM_004333.6(BRAF):c.980+84A>G	noncoding	Benign
7	140800310	A	G	A140800310G	BRAF	NM_004333.6(BRAF):c.980+52T>C	noncoding	Benign
7	140800535	T	C	T140800535C	BRAF	NM_004333.6(BRAF):c.861-54A>G	noncoding	Benign
7	140801449	C	T	C140801449T	BRAF	NM_004333.6(BRAF):c.823G>A:p.Glu275Lys	coding	Pathogenic
7	140801621	C	T	C140801621T	BRAF	NM_004333.6(BRAF):c.712-61G>A	noncoding	Benign
7	140808137	A	T	A140808137T	BRAF	NM_004333.6(BRAF):c.609-75T>A	noncoding	Benign
7	140808351	C	A	C140808351A	BRAF	NM_004333.6(BRAF):c.609-289G>T	noncoding	Benign
7	140834590	G	A	G140834590A	BRAF	NM_004333.6(BRAF):c.504+19C>T	noncoding	Benign/Likely_benign
7	140834592	T	C	T140834592C	BRAF	NM_004333.6(BRAF):c.504+17A>G	noncoding	Benign/Likely_benign
7	140834902	C	A	C140834902A	BRAF	NM_004333.6(BRAF):c.241-30G>T	noncoding	Benign
7	140850158	A	G	A140850158G	BRAF	NM_004333.6(BRAF):c.193T>C:p.Leu65=	coding	Benign/Likely_benign
7	140924534	C	A	C140924534A	BRAF	NM_004333.6(BRAF):c.138+32G>T	noncoding	Benign
7	140924876	C	T	C140924876T	BRAF	NM_004333.6(BRAF):c.-173G>A	noncoding	Benign
7	141551244	C	G	C141551244G	AGK	Single_allele	noncoding	Benign
7	141551465	C	G	C141551465G	AGK	NM_018238.4(AGK):c.-15+31C>G	noncoding	Benign
7	141555809	A	G	A141555809G	AGK	NM_018238.4(AGK):c.101+242A>G	noncoding	Benign
7	141601298	A	G	A141601298G	AGK	NM_018238.4(AGK):c.297+18A>G	noncoding	Benign/Likely_benign
7	141614087	C	A	C141614087A	AGK	NM_018238.4(AGK):c.391-59C>A	noncoding	Benign
7	141614167	C	T	C141614167T	AGK	NM_018238.4(AGK):c.412C>T:p.Arg138Ter	coding	Pathogenic
7	141615566	G	A	G141615566A	AGK	NM_018238.4(AGK):c.518+1G>A	coding	Pathogenic
7	141633635	A	C	A141633635C	AGK	NM_018238.4(AGK):c.589-266A>C	noncoding	Benign
7	141633944	G	A	G141633944A	AGK	NM_018238.4(AGK):c.632G>A:p.Trp211Ter	coding	Pathogenic
7	141649114	T	C	T141649114C	AGK	NM_018238.4(AGK):c.976-149T>C	noncoding	Benign
7	141649266	A	T	A141649266T	AGK	NM_018238.4(AGK):c.979A>T:p.Lys327Ter	coding	Pathogenic
7	141652747	T	G	T141652747G	AGK	NM_018238.4(AGK):c.1132-40T>G	noncoding	Benign
7	141724275	G	A	G141724275A	WEE2	NM_001105558.1(WEE2):c.1221G>A:p.Glu407=	coding	Pathogenic
7	142749281	A	C	A142749281C	PRSS1	NC_000007.13:g.142457132A>C	noncoding	Benign
7	142749537	C	T	C142749537T	PRSS1	NM_002769.5(PRSS1):c.40+13C>T	noncoding	Benign/Likely_benign
7	142750563	C	T	C142750563T	PRSS1	NM_002769.5(PRSS1):c.49C>T:p.Pro17Ser	coding	Benign/Likely_benign
7	142750630	T	C	T142750630C	PRSS1	NM_002769.5(PRSS1):c.116T>C:p.Val39Ala	coding	Pathogenic
7	142751828	G	A	G142751828A	PRSS1	NM_002769.5(PRSS1):c.255G>A:p.Glu85=	coding	Benign
7	142751865	C	A	C142751865A	PRSS1	NM_002769.5(PRSS1):c.292C>A:p.Gln98Lys	coding	Benign/Likely_benign
7	142752043	A	T	A142752043T	PRSS1	NM_002769.5(PRSS1):c.454+16A>T	noncoding	Benign
7	142752444	C	T	C142752444T	PRSS1	NM_002769.5(PRSS1):c.468C>T:p.Asp156=	coding	Benign/Likely_benign
7	142752789	G	A	G142752789A	PRSS1	NM_002769.5(PRSS1):c.592-79G>A	noncoding	Benign
7	142752893	G	C	G142752893C	PRSS1	NM_002769.5(PRSS1):c.617G>C:p.Cys206Ser	coding	Benign
7	142876777	A	G	A142876777G	TRPV6	NM_018646.6(TRPV6):c.668T>C:p.Ile223Thr	coding	Pathogenic/Likely_pathogenic
7	142961359	C	G	C142961359G	KEL	NM_000420.3(KEL):c.223+1G>C	noncoding	Pathogenic
7	143316259	G	A	G143316259A	CLCN1	NM_000083.3(CLCN1):c.47G>A:p.Trp16Ter	coding	Pathogenic
7	143316311	C	A	C143316311A	CLCN1	NM_000083.3(CLCN1):c.99C>A:p.Tyr33Ter	coding	Pathogenic
7	143319902	T	A	T143319902A	CLCN1	NM_000083.3(CLCN1):c.301+27T>A	noncoding	Benign
7	143320603	A	T	A143320603T	CLCN1	NM_000083.3(CLCN1):c.302-61A>T	noncoding	Benign
7	143321374	G	A	G143321374A	CLCN1	NM_000083.3(CLCN1):c.443G>A:p.Trp148Ter	coding	Pathogenic
7	143321494	G	C	G143321494C	CLCN1	NM_000083.3(CLCN1):c.562+1G>C	coding	Pathogenic
7	143321720	G	T	G143321720T	CLCN1	NM_000083.3(CLCN1):c.568G>T:p.Gly190Ter	coding	Pathogenic
7	143321744	C	G	C143321744G	CLCN1	NM_000083.3(CLCN1):c.592C>G:p.Leu198Val	coding	Pathogenic/Likely_pathogenic
7	143321745	T	C	T143321745C	CLCN1	NM_000083.3(CLCN1):c.593T>C:p.Leu198Pro	coding	Pathogenic/Likely_pathogenic
7	143321770	C	A	C143321770A	CLCN1	NM_000083.3(CLCN1):c.618C>A:p.Tyr206Ter	coding	Pathogenic
7	143323308	G	A	G143323308A	CLCN1	NM_000083.3(CLCN1):c.697-1G>A	noncoding	Pathogenic
7	143323309	G	A	G143323309A	CLCN1	NM_000083.3(CLCN1):c.697G>A:p.Gly233Ser	coding	Pathogenic/Likely_pathogenic
7	143323338	T	A	T143323338A	CLCN1	NM_000083.3(CLCN1):c.726T>A:p.Cys242Ter	coding	Pathogenic
7	143323383	T	A	T143323383A	CLCN1	NM_000083.3(CLCN1):c.771T>A:p.Tyr257Ter	coding	Pathogenic
7	143324414	C	T	C143324414T	CLCN1	NM_000083.3(CLCN1):c.775C>T:p.Gln259Ter	coding	Pathogenic
7	143324456	G	A	G143324456A	CLCN1	NM_000083.3(CLCN1):c.817G>A:p.Val273Met	coding	Pathogenic/Likely_pathogenic
7	143324468	T	C	T143324468C	CLCN1	NM_000083.3(CLCN1):c.829T>C:p.Cys277Arg	coding	Pathogenic
7	143330770	A	G	A143330770G	CLCN1	NM_000083.3(CLCN1):c.854-2A>G	noncoding	Pathogenic
7	143330778	T	A	T143330778A	CLCN1	NM_000083.3(CLCN1):c.860T>A:p.Leu287Gln	coding	Pathogenic
7	143330836	C	A	C143330836A	CLCN1	NM_000083.3(CLCN1):c.918C>A:p.Phe306Leu	coding	Pathogenic
7	143330856	C	T	C143330856T	CLCN1	NM_000083.3(CLCN1):c.938C>T:p.Ala313Val	coding	Pathogenic
7	143331262	T	G	T143331262G	CLCN1	NM_000083.3(CLCN1):c.1010T>G:p.Phe337Cys	coding	Pathogenic
7	143331535	T	C	T143331535C	CLCN1	NM_000083.3(CLCN1):c.1065-16T>C	noncoding	Benign/Likely_benign
7	143332487	A	C	A143332487C	CLCN1	NM_000083.3(CLCN1):c.1235A>C:p.Gln412Pro	coding	Pathogenic
7	143332733	C	T	C143332733T	CLCN1	NM_000083.3(CLCN1):c.1261C>T:p.Arg421Cys	coding	Pathogenic/Likely_pathogenic
7	143339225	G	A	G143339225A	CLCN1	NM_000083.3(CLCN1):c.1402-28G>A	noncoding	Benign
7	143339301	T	C	T143339301C	CLCN1	NM_000083.3(CLCN1):c.1450T>C:p.Phe484Leu	coding	Pathogenic
7	143339455	T	A	T143339455A	CLCN1	NM_000083.3(CLCN1):c.1472-56T>A	noncoding	Benign
7	143339509	A	G	A143339509G	CLCN1	NM_000083.3(CLCN1):c.1472-2A>G	noncoding	Pathogenic
7	143341812	A	G	A143341812G	CLCN1	NM_000083.3(CLCN1):c.1583-117A>G	noncoding	Benign
7	143341952	G	A	G143341952A	CLCN1	NM_000083.3(CLCN1):c.1606G>A:p.Val536Ile	coding	Pathogenic/Likely_pathogenic
7	143341988	G	A	G143341988A	CLCN1	NM_000083.3(CLCN1):c.1642G>A:p.Glu548Lys	coding	Pathogenic
7	143342043	C	T	C143342043T	CLCN1	NM_000083.3(CLCN1):c.1697C>T:p.Ala566Val	coding	Pathogenic/Likely_pathogenic
7	143342218	A	G	A143342218G	CLCN1	NM_000083.3(CLCN1):c.1796+76A>G	noncoding	Benign
7	143342417	G	C	G143342417C	CLCN1	NM_000083.3(CLCN1):c.1842G>C:p.Lys614Asn	coding	Benign/Likely_benign
7	143342461	T	C	T143342461C	CLCN1	NM_000083.3(CLCN1):c.1886T>C:p.Leu629Pro	coding	Pathogenic/Likely_pathogenic
7	143342485	T	A	T143342485A	CLCN1	NM_000083.3(CLCN1):c.1910T>A:p.Leu637Ter	coding	Pathogenic
7	143345604	C	G	C143345604G	CLCN1	NM_000083.3(CLCN1):c.2014C>G:p.Arg672Gly	coding	Pathogenic
7	143345605	G	A	G143345605A	CLCN1	NM_000083.3(CLCN1):c.2015G>A:p.Arg672His	coding	Pathogenic
7	143345648	C	A	C143345648A	CLCN1	NM_000083.3(CLCN1):c.2058C>A:p.Tyr686Ter	coding	Pathogenic
7	143345934	A	G	A143345934G	CLCN1	NM_000083.3(CLCN1):c.2172+172A>G	noncoding	Benign
7	143346284	C	G	C143346284G	CLCN1	NM_000083.3(CLCN1):c.2284+33C>G	noncoding	Benign
7	143346514	G	C	G143346514C	CLCN1	NM_000083.3(CLCN1):c.2285-65G>C	noncoding	Benign
7	143346846	T	C	T143346846C	CLCN1	NM_000083.3(CLCN1):c.2365-65T>C	noncoding	Benign
7	143350402	C	T	C143350402T	CLCN1	NM_000083.3(CLCN1):c.2434C>T:p.Gln812Ter	coding	Pathogenic
7	143350463	C	T	C143350463T	CLCN1	NM_000083.3(CLCN1):c.2495C>T:p.Thr832Ile	coding	Pathogenic
7	143350603	C	T	C143350603T	CLCN1	NM_000083.3(CLCN1):c.2544C>T:p.Leu848=	coding	Benign
7	143350610	G	A	G143350610A	CLCN1	NM_000083.3(CLCN1):c.2551G>A:p.Val851Met	coding	Pathogenic/Likely_pathogenic
7	143350655	G	A	G143350655A	CLCN1	NM_000083.3(CLCN1):c.2595+1G>A	coding	Pathogenic
7	143350870	C	T	C143350870T	CLCN1	NM_000083.3(CLCN1):c.2595+216C>T	noncoding	Benign
7	143351873	A	G	A143351873G	CLCN1	NM_000083.3(CLCN1):c.2875A>G:p.Ser959Gly	coding	Benign
7	143935891	G	A	G143935891A	OR2F2	NM_001004685.1(OR2F2):c.659G>A:p.Arg220Gln	coding	Benign
7	144397037	C	T	C144397037T	NOBOX	Single_allele	noncoding	Benign
7	144397163	A	C	A144397163C	NOBOX	Single_allele	noncoding	Benign
7	144397690	A	G	A144397690G	NOBOX	NM_001080413.3(NOBOX):c.1775-149T>C	noncoding	Benign
7	144398637	C	T	C144398637T	NOBOX	NM_001080413.3(NOBOX):c.1470-51G>A	noncoding	Benign
7	144398787	T	C	T144398787C	NOBOX	NM_001080413.3(NOBOX):c.1469+163A>G	noncoding	Benign
7	144399363	C	T	C144399363T	NOBOX	NM_001080413.3(NOBOX):c.1240+34G>A	noncoding	Benign
7	144399505	C	T	C144399505T	NOBOX	NM_001080413.3(NOBOX):c.1155-23G>A	noncoding	Benign
7	144401803	T	C	T144401803C	NOBOX	NM_001080413.3(NOBOX):c.292+66A>G	noncoding	Benign
7	144401829	G	A	G144401829A	NOBOX	NM_001080413.3(NOBOX):c.292+40C>T	noncoding	Benign
7	144409879	C	T	C144409879T	NOBOX	NM_001080413.3(NOBOX):c.85+264G>A	noncoding	Benign
7	144410460	G	A	G144410460A	NOBOX	Single_allele	noncoding	Benign
7	144410509	T	C	T144410509C	NOBOX	Single_allele	noncoding	Benign
7	144548183	C	A	C144548183A	TPK1	NM_022445.4(TPK1):c.613+308G>T	noncoding	Benign
7	144548227	A	C	A144548227C	TPK1	NM_022445.4(TPK1):c.613+264T>G	noncoding	Benign
7	144591498	C	G	C144591498G	TPK1	NM_022445.4(TPK1):c.426G>C:p.Leu142Phe	coding	Pathogenic/Likely_pathogenic
7	144623349	G	A	G144623349A	TPK1	NM_022445.4(TPK1):c.259-88C>T	noncoding	Benign
7	144765675	T	C	T144765675C	TPK1	NM_022445.4(TPK1):c.115+205A>G	noncoding	Benign
7	144765858	C	T	C144765858T	TPK1	NM_022445.4(TPK1):c.115+22G>A	noncoding	Benign
7	144766076	C	G	C144766076G	TPK1	NM_022445.4(TPK1):c.44-125G>C	noncoding	Benign
7	144766152	A	G	A144766152G	TPK1	NM_022445.4(TPK1):c.44-201T>C	noncoding	Benign
7	144835505	C	A	C144835505A	TPK1	NM_022445.4(TPK1):c.43+55G>T	noncoding	Benign
7	144835856	G	A	G144835856A	TPK1	NM_022445.4(TPK1):c.-17+111C>T	noncoding	Benign
7	144836196	C	T	C144836196T	TPK1	Single_allele	noncoding	Benign
7	146116001	A	G	A146116001G	CNTNAP2	NC_000007.13:g.145813093A>G	noncoding	Benign
7	146533500	G	A	G146533500A	CNTNAP2	NM_014141.6(CNTNAP2):c.98-240771G>A	noncoding	Benign
7	146533609	G	A	G146533609A	CNTNAP2	NM_014141.6(CNTNAP2):c.98-240662G>A	noncoding	Benign
7	146533909	T	G	T146533909G	CNTNAP2	NM_014141.6(CNTNAP2):c.98-240362T>G	noncoding	Benign
7	146583594	C	T	C146583594T	CNTNAP2	NM_014141.6(CNTNAP2):c.98-190677C>T	noncoding	Benign
7	146683486	C	A	C146683486A	CNTNAP2	NM_014141.6(CNTNAP2):c.98-90785C>A	noncoding	Benign
7	146683534	G	T	G146683534T	CNTNAP2	NM_014141.6(CNTNAP2):c.98-90737G>T	noncoding	Benign
7	146839903	G	A	G146839903A	CNTNAP2	NM_014141.6(CNTNAP2):c.401G>A:p.Trp134Ter	coding	Pathogenic
7	146839917	C	A	C146839917A	CNTNAP2	NM_014141.6(CNTNAP2):c.402+13C>A	noncoding	Benign/Likely_benign
7	147108147	G	A	G147108147A	CNTNAP2	NM_014141.6(CNTNAP2):c.551G>A:p.Trp184Ter	coding	Pathogenic
7	147108278	G	T	G147108278T	CNTNAP2	NM_014141.6(CNTNAP2):c.682G>T:p.Gly228Ter	coding	Pathogenic
7	147300111	T	A	T147300111A	CNTNAP2	NM_014141.6(CNTNAP2):c.1349-30T>A	noncoding	Benign
7	147486029	A	C	A147486029C	CNTNAP2	NM_014141.6(CNTNAP2):c.1765A>C:p.Thr589Pro	coding	Benign
7	147562131	G	A	G147562131A	CNTNAP2	NM_014141.6(CNTNAP2):c.1778-7G>A	noncoding	Benign
7	147562516	A	T	A147562516T	CNTNAP2	NM_014141.6(CNTNAP2):c.1897+259A>T	noncoding	Benign
7	147639219	C	T	C147639219T	CNTNAP2	NM_014141.6(CNTNAP2):c.2011C>T:p.Gln671Ter	coding	Pathogenic
7	147903512	C	A	C147903512A	CNTNAP2	NM_014141.6(CNTNAP2):c.2099-53C>A	noncoding	Benign
7	147903567	G	T	G147903567T	CNTNAP2	NM_014141.6(CNTNAP2):c.2101G>T:p.Gly701Ter	coding	Pathogenic
7	147903583	G	A	G147903583A	CNTNAP2	NM_014141.6(CNTNAP2):c.2117G>A:p.Trp706Ter	coding	Pathogenic
7	147903617	C	A	C147903617A	CNTNAP2	NM_014141.6(CNTNAP2):c.2151C>A:p.Tyr717Ter	coding	Pathogenic
7	147977659	T	C	T147977659C	CNTNAP2	NM_014141.6(CNTNAP2):c.2256-203T>C	noncoding	Benign
7	147977788	G	A	G147977788A	CNTNAP2	NM_014141.6(CNTNAP2):c.2256-74G>A	noncoding	Benign
7	147977820	T	C	T147977820C	CNTNAP2	NM_014141.6(CNTNAP2):c.2256-42T>C	noncoding	Benign
7	148118538	C	T	C148118538T	CNTNAP2	NM_014141.6(CNTNAP2):c.2554+250C>T	noncoding	Benign
7	148147582	G	A	G148147582A	CNTNAP2	NM_014141.6(CNTNAP2):c.2646G>A:p.Trp882Ter	coding	Pathogenic/Likely_pathogenic
7	148147718	T	C	T148147718C	CNTNAP2	NM_014141.6(CNTNAP2):c.2773+9T>C	noncoding	Benign/Likely_benign
7	148172352	G	T	G148172352T	CNTNAP2	NM_014141.6(CNTNAP2):c.2884G>T:p.Gly962Ter	coding	Pathogenic
7	148172378	T	A	T148172378A	CNTNAP2	NM_014141.6(CNTNAP2):c.2910T>A:p.Tyr970Ter	coding	Pathogenic
7	148229681	C	T	C148229681T	CNTNAP2	NM_014141.6(CNTNAP2):c.3283C>T:p.Arg1095Ter	coding	Pathogenic/Likely_pathogenic
7	148229729	C	T	C148229729T	CNTNAP2	NM_014141.6(CNTNAP2):c.3331C>T:p.Gln1111Ter	coding	Pathogenic/Likely_pathogenic
7	148266833	C	G	C148266833G	CNTNAP2	NM_014141.6(CNTNAP2):c.3382-200C>G	noncoding	Benign
7	148266891	G	C	G148266891C	CNTNAP2	NM_014141.6(CNTNAP2):c.3382-142G>C	noncoding	Benign
7	148266924	A	G	A148266924G	CNTNAP2	NM_014141.6(CNTNAP2):c.3382-109A>G	noncoding	Benign
7	148266999	G	A	G148266999A	CNTNAP2	NM_014141.6(CNTNAP2):c.3382-34G>A	noncoding	Benign
7	148415664	G	A	G148415664A	CNTNAP2	NM_014141.6(CNTNAP2):c.*48G>A	noncoding	Benign/Likely_benign
7	148419156	G	A	G148419156A	CNTNAP2	NM_014141.6(CNTNAP2):c.*3540G>A	noncoding	Benign/Likely_benign
7	148419537	G	A	G148419537A	CNTNAP2	NM_014141.6(CNTNAP2):c.*3921G>A	noncoding	Benign/Likely_benign
7	148807703	G	C	G148807703C	EZH2	NM_004456.5(EZH2):c.2199C>G:p.Tyr733Ter	coding	Pathogenic
7	148808893	A	G	A148808893G	EZH2	NM_004456.5(EZH2):c.2195+178T>C	noncoding	Benign
7	148809081	A	G	A148809081G	EZH2	NM_004456.5(EZH2):c.2185T>C:p.Phe729Leu	coding	Pathogenic
7	148809201	G	A	G148809201A	EZH2	NM_004456.5(EZH2):c.2111-46C>T	noncoding	Benign
7	148809336	G	A	G148809336A	EZH2	NM_004456.5(EZH2):c.2084C>T:p.Ser695Leu	coding	Pathogenic
7	148810379	T	C	T148810379C	EZH2	NM_004456.5(EZH2):c.1983A>G:p.Lys661=	coding	Benign/Likely_benign
7	148815559	A	G	A148815559G	EZH2	NM_004456.5(EZH2):c.1506-13T>C	noncoding	Benign
7	148815565	A	C	A148815565C	EZH2	NM_004456.5(EZH2):c.1506-19T>G	noncoding	Benign/Likely_benign
7	148816664	G	C	G148816664C	EZH2	NM_004456.5(EZH2):c.1505+20C>G	noncoding	Benign
7	148816672	T	C	T148816672C	EZH2	NM_004456.5(EZH2):c.1505+12A>G	noncoding	Benign/Likely_benign
7	148816773	A	G	A148816773G	EZH2	NM_004456.5(EZH2):c.1416T>C:p.Tyr472=	coding	Benign/Likely_benign
7	148817240	C	T	C148817240T	EZH2	NM_004456.5(EZH2):c.1392G>A:p.Gly464=	coding	Benign
7	148817351	T	C	T148817351C	EZH2	NM_004456.5(EZH2):c.1281A>G:p.Pro427=	coding	Benign
7	148819623	A	C	A148819623C	EZH2	NM_004456.5(EZH2):c.972T>G:p.Pro324=	coding	Benign
7	148827543	T	G	T148827543G	EZH2	NM_004456.5(EZH2):c.626-277A>C	noncoding	Benign
7	148828735	C	T	C148828735T	EZH2	NM_004456.5(EZH2):c.625+5G>A	noncoding	Benign/Likely_benign
7	148847523	A	C	A148847523C	EZH2	NM_004456.5(EZH2):c.-7-218T>G	noncoding	Benign
7	150520221	C	T	C150520221T	GIMAP7	NM_153236.4(GIMAP7):c.247C>T:p.Arg83Cys	coding	Benign
7	150742279	T	C	T150742279C	GIMAP5	NM_018384.5(GIMAP5):c.140T>C:p.Ile47Thr	coding	Pathogenic/Likely_pathogenic
7	150742465	C	T	C150742465T	GIMAP5	NM_018384.5(GIMAP5):c.326C>T:p.Pro109Leu	coding	Pathogenic/Likely_pathogenic
7	150742750	T	C	T150742750C	GIMAP5	NM_018384.5(GIMAP5):c.611T>C:p.Leu204Pro	coding	Pathogenic/Likely_pathogenic
7	150742806	C	T	C150742806T	GIMAP5	NM_018384.5(GIMAP5):c.667C>T:p.Leu223Phe	coding	Pathogenic/Likely_pathogenic
7	150945175	G	A	G150945175A	KCNH2	NM_000238.4(KCNH2):c.*190C>T	noncoding	Benign/Likely_benign
7	150945455	T	C	T150945455C	KCNH2	NM_000238.4(KCNH2):c.3390A>G:p.Glu1130=	coding	Benign/Likely_benign
7	150946855	A	G	A150946855G	KCNH2	NM_000238.4(KCNH2):c.3330+22T>C	noncoding	Benign
7	150946886	C	T	C150946886T	KCNH2	NM_000238.4(KCNH2):c.3321G>A:p.Ser1107=	coding	Benign/Likely_benign
7	150947072	G	A	G150947072A	KCNH2	NM_000238.4(KCNH2):c.3153-18C>T	noncoding	Benign
7	150947344	G	A	G150947344A	KCNH2	NM_000238.4(KCNH2):c.3136C>T:p.Gln1046Ter	coding	Pathogenic
7	150947390	C	G	C150947390G	KCNH2	NM_000238.4(KCNH2):c.3090G>C:p.Pro1030=	coding	Benign/Likely_benign
7	150947432	G	A	G150947432A	KCNH2	NM_000238.4(KCNH2):c.3048C>T:p.Pro1016=	coding	Benign/Likely_benign
7	150947571	C	T	C150947571T	KCNH2	NM_000238.4(KCNH2):c.2965+35G>A	noncoding	Benign
7	150947592	G	A	G150947592A	KCNH2	NM_000238.4(KCNH2):c.2965+14C>T	noncoding	Benign
7	150947594	C	T	C150947594T	KCNH2	NM_000238.4(KCNH2):c.2965+12G>A	noncoding	Benign/Likely_benign
7	150947671	G	A	G150947671A	KCNH2	NM_000238.4(KCNH2):c.2900C>T:p.Pro967Leu	coding	Benign/Likely_benign
7	150947870	G	A	G150947870A	KCNH2	NM_000238.4(KCNH2):c.2701C>T:p.Gln901Ter	coding	Pathogenic/Likely_pathogenic
7	150947935	G	A	G150947935A	KCNH2	NM_000238.4(KCNH2):c.2693-57C>T	noncoding	Benign
7	150948426	T	C	T150948426C	KCNH2	NM_000238.4(KCNH2):c.2692+18A>G	noncoding	Benign
7	150948431	T	C	T150948431C	KCNH2	NM_000238.4(KCNH2):c.2692+13A>G	noncoding	Benign
7	150948559	G	A	G150948559A	KCNH2	NM_000238.4(KCNH2):c.2593-16C>T	noncoding	Benign
7	150948889	C	T	C150948889T	KCNH2	NM_000238.4(KCNH2):c.2559G>A:p.Trp853Ter	coding	Pathogenic
7	150949012	A	T	A150949012T	KCNH2	NM_000238.4(KCNH2):c.2436T>A:p.Tyr812Ter	coding	Pathogenic
7	150949015	C	T	C150949015T	KCNH2	NM_000238.4(KCNH2):c.2433G>A:p.Leu811=	coding	Benign/Likely_benign
7	150949110	A	G	A150949110G	KCNH2	NM_000238.4(KCNH2):c.2399-61T>C	noncoding	Benign
7	150949796	T	A	T150949796A	KCNH2	NM_000238.4(KCNH2):c.2398+372A>T	coding	Benign
7	150949815	A	G	A150949815G	KCNH2	NM_000238.4(KCNH2):c.2398+353T>C	coding	Benign
7	150949840	G	A	G150949840A	KCNH2	NM_000238.4(KCNH2):c.2398+328C>T	coding	Benign
7	150950205	G	A	G150950205A	KCNH2	NM_000238.4(KCNH2):c.2361C>T:p.Ile787_Glu788=	coding	Benign/Likely_benign
7	150950300	T	C	T150950300C	KCNH2	NM_000238.4(KCNH2):c.2266A>G:p.Met756Val	coding	Pathogenic/Likely_pathogenic
7	150950349	G	A	G150950349A	KCNH2	NM_000238.4(KCNH2):c.2217C>T:p.His739_Cys740=	coding	Benign/Likely_benign
7	150950429	A	C	A150950429C	KCNH2	NM_000238.4(KCNH2):c.2146-9T>G	noncoding	Benign
7	150950481	T	C	T150950481C	KCNH2	NM_000238.4(KCNH2):c.2146-61A>G	noncoding	Benign
7	150950905	G	A	G150950905A	KCNH2	NM_000238.4(KCNH2):c.2145+16C>T	noncoding	Benign
7	150950906	C	A	C150950906A	KCNH2	NM_000238.4(KCNH2):c.2145+15G>T	noncoding	Benign
7	150950933	G	A	G150950933A	KCNH2	NM_000238.4(KCNH2):c.2133C>T:p.Ile711_Asp712=	coding	Benign/Likely_benign
7	150950951	C	T	C150950951T	KCNH2	NM_000238.4(KCNH2):c.2115G>A:p.Trp705Ter	coding	Pathogenic
7	150950952	C	T	C150950952T	KCNH2	NM_000238.4(KCNH2):c.2114G>A:p.Trp705Ter	coding	Pathogenic
7	150951080	G	A	G150951080A	KCNH2	NM_000238.4(KCNH2):c.1986C>T:p.Ile662_Ile663=	coding	Benign
7	150951087	G	A	G150951087A	KCNH2	NM_000238.4(KCNH2):c.1979C>T:p.Ser660Leu	coding	Pathogenic/Likely_pathogenic
7	150951139	G	A	G150951139A	KCNH2	NM_000238.4(KCNH2):c.1946-19C>T	noncoding	Benign
7	150951183	C	G	C150951183G	KCNH2	NM_000238.4(KCNH2):c.1946-63G>C	noncoding	Benign
7	150951517	C	T	C150951517T	KCNH2	NM_000238.4(KCNH2):c.1876G>A:p.Gly626Ser	coding	Pathogenic/Likely_pathogenic
7	150951535	T	C	T150951535C	KCNH2	NM_000238.4(KCNH2):c.1858A>G:p.Ser620Gly	coding	Pathogenic
7	150951540	G	A	G150951540A	KCNH2	NM_000238.4(KCNH2):c.1853C>T:p.Thr618Ile	coding	Pathogenic/Likely_pathogenic
7	150951603	T	C	T150951603C	KCNH2	NM_000238.4(KCNH2):c.1790A>G:p.Tyr597Cys	coding	Pathogenic/Likely_pathogenic
7	150951709	G	A	G150951709A	KCNH2	NM_000238.4(KCNH2):c.1684C>T:p.His562Tyr	coding	Pathogenic/Likely_pathogenic
7	150951713	G	A	G150951713A	KCNH2	NM_000238.4(KCNH2):c.1680C>T:p.Ile560_Ala561=	coding	Benign/Likely_benign
7	150951821	C	T	C150951821T	KCNH2	NM_000238.4(KCNH2):c.1572G>A:p.Leu524_Lys525=	coding	Benign/Likely_benign
7	150951841	G	A	G150951841A	KCNH2	NM_000238.4(KCNH2):c.1558-6C>T	noncoding	Benign/Likely_benign
7	150951898	G	C	G150951898C	KCNH2	NM_000238.4(KCNH2):c.1558-63C>G	noncoding	Benign
7	150952508	G	A	G150952508A	KCNH2	NM_000238.4(KCNH2):c.1474C>T:p.His492Tyr	coding	Pathogenic/Likely_pathogenic
7	150952557	G	T	G150952557T	KCNH2	NM_000238.4(KCNH2):c.1425C>A:p.Tyr475Ter	coding	Pathogenic
7	150952585	T	G	T150952585G	KCNH2	NM_000238.4(KCNH2):c.1397A>C:p.Asp466Ala	coding	Pathogenic
7	150952634	G	A	G150952634A	KCNH2	NM_000238.4(KCNH2):c.1348C>T:p.Gln450Ter	coding	Pathogenic/Likely_pathogenic
7	150952698	C	T	C150952698T	KCNH2	NM_000238.4(KCNH2):c.1284G>A:p.Ser428_Ala429=	coding	Benign/Likely_benign
7	150955331	T	C	T150955331C	KCNH2	NM_000238.4(KCNH2):c.1128+1960A>G	noncoding	Benign
7	150955426	G	A	G150955426A	KCNH2	NM_000238.4(KCNH2):c.1128+1865C>T	coding	Benign/Likely_benign
7	150955522	C	T	C150955522T	KCNH2	NM_000238.4(KCNH2):c.1128+1769G>A	coding	Benign
7	150955794	C	T	C150955794T	KCNH2	NM_000238.4(KCNH2):c.1128+1497G>A	coding	Benign
7	150957058	T	C	T150957058C	KCNH2	NM_000238.4(KCNH2):c.1128+233A>G	noncoding	Benign
7	150957278	G	A	G150957278A	KCNH2	NM_000238.4(KCNH2):c.1128+13C>T	noncoding	Benign
7	150957480	G	A	G150957480A	KCNH2	NM_000238.4(KCNH2):c.939C>T:p.Ser313_Gly314=	coding	Benign/Likely_benign
7	150957536	C	T	C150957536T	KCNH2	NM_000238.4(KCNH2):c.917-34G>A	noncoding	Benign
7	150957555	C	T	C150957555T	KCNH2	NM_000238.4(KCNH2):c.917-53G>A	noncoding	Benign
7	150958044	C	T	C150958044T	KCNH2	NM_000238.4(KCNH2):c.916+15G>A	noncoding	Benign
7	150958045	C	A	C150958045A	KCNH2	NM_000238.4(KCNH2):c.916+14G>T	noncoding	Benign
7	150958158	G	A	G150958158A	KCNH2	NM_000238.4(KCNH2):c.817C>T:p.Arg273Ter	coding	Pathogenic
7	150958278	C	A	C150958278A	KCNH2	NM_000238.4(KCNH2):c.697G>T:p.Ala233Ser	coding	Benign/Likely_benign
7	150958399	C	T	C150958399T	KCNH2	NM_000238.4(KCNH2):c.576G>A:p.Gly192_Ala193=	coding	Benign/Likely_benign
7	150958536	T	C	T150958536C	KCNH2	NM_000238.4(KCNH2):c.473-34A>G	noncoding	Benign
7	150958555	G	A	G150958555A	KCNH2	NM_000238.4(KCNH2):c.473-53C>T	noncoding	Benign
7	150959582	C	T	C150959582T	KCNH2	NM_000238.4(KCNH2):c.462G>A:p.Trp154Ter	coding	Pathogenic
7	150959693	G	A	G150959693A	KCNH2	NM_000238.4(KCNH2):c.351C>T:p.Asn117_Glu118=	coding	Benign/Likely_benign
7	150960113	A	C	A150960113C	KCNH2	NM_000238.4(KCNH2):c.308-377T>G	noncoding	Benign
7	150962014	G	A	G150962014A	KCNH2	NM_000238.4(KCNH2):c.308-2278C>T	noncoding	Benign
7	150974589	G	A	G150974589A	KCNH2	NM_000238.4(KCNH2):c.307+122C>T	noncoding	Benign
7	150974681	G	A	G150974681A	KCNH2	NM_000238.4(KCNH2):c.307+30C>T	noncoding	Benign
7	150974730	G	A	G150974730A	KCNH2	NM_000238.4(KCNH2):c.288C>T:p.Ile96_Ala97=	coding	Benign/Likely_benign
7	150974761	A	C	A150974761C	KCNH2	NM_000238.4(KCNH2):c.257T>G:p.Leu86Arg	coding	Pathogenic
7	150974768	G	A	G150974768A	KCNH2	NM_000238.4(KCNH2):c.250C>T:p.Gln84Ter	coding	Pathogenic
7	150974878	C	A	C150974878A	KCNH2	NM_000238.4(KCNH2):c.140G>T:p.Gly47Val	coding	Pathogenic
7	150974891	A	C	A150974891C	KCNH2	NM_000238.4(KCNH2):c.127T>G:p.Tyr43Asp	coding	Pathogenic
7	150977932	C	T	C150977932T	KCNH2	NM_000238.4(KCNH2):c.-19G>A	noncoding	Benign
7	150995356	G	A	G150995356A	NOS3	NM_000603.5(NOS3):c.270+42G>A	noncoding	Benign
7	150996342	C	G	C150996342G	NOS3	NM_000603.5(NOS3):c.271-62C>G	noncoding	Benign
7	150996468	G	A	G150996468A	NOS3	NM_000603.5(NOS3):c.335G>A:p.Arg112Gln	coding	Benign
7	150998920	A	G	A150998920G	NOS3	NM_000603.5(NOS3):c.817-26A>G	noncoding	Benign
7	151000245	C	A	C151000245A	NOS3	NM_000603.5(NOS3):c.1132-253C>A	noncoding	Benign
7	151000299	G	A	G151000299A	NOS3	NM_000603.5(NOS3):c.1132-199G>A	noncoding	Benign
7	151001791	A	G	A151001791G	NOS3	NM_000603.5(NOS3):c.1503-30A>G	noncoding	Benign
7	151002162	G	T	G151002162T	NOS3	NM_000603.5(NOS3):c.1648-38G>T	noncoding	Benign
7	151002523	C	G	C151002523G	NOS3	NM_000603.5(NOS3):c.1752+219C>G	noncoding	Benign
7	151003549	A	G	A151003549G	NOS3	NM_000603.5(NOS3):c.1752+1245A>G	coding	Benign
7	151003858	C	A	C151003858A	NOS3	NM_000603.5(NOS3):c.1752+1554C>A	coding	Benign
7	151006827	G	T	G151006827T	NOS3	NM_000603.5(NOS3):c.1821-62G>T	noncoding	Benign
7	151007312	C	A	C151007312A	NOS3	NM_000603.5(NOS3):c.2112+36C>A	noncoding	Benign
7	151008754	G	A	G151008754A	NOS3	NM_000603.5(NOS3):c.2113-176G>A	noncoding	Benign
7	151009289	C	A	C151009289A	NOS3	NM_000603.5(NOS3):c.2324+22C>A	noncoding	Benign
7	151009295	C	A	C151009295A	NOS3	NM_000603.5(NOS3):c.2324+28C>A	noncoding	Benign
7	151010029	T	C	T151010029C	NOS3	NM_000603.5(NOS3):c.2513-86T>C	noncoding	Benign
7	151010855	G	A	G151010855A	NOS3	NM_000603.5(NOS3):c.2897-44G>A	noncoding	Benign
7	151013540	A	C	A151013540C	NOS3	NM_000603.5(NOS3):c.3255+161A>C	noncoding	Benign
7	151013712	G	A	G151013712A	NOS3	NM_000603.5(NOS3):c.3256-12G>A	noncoding	Benign
7	151055516	C	T	C151055516T	CDK5	NM_004935.4(CDK5):c.483+16G>A	noncoding	Benign
7	151055521	T	G	T151055521G	CDK5	NM_004935.4(CDK5):c.483+11A>C	noncoding	Benign
7	151055733	A	G	A151055733G	CDK5	NM_004935.4(CDK5):c.408+20T>C	noncoding	Benign
7	151118259	C	T	C151118259T	AGAP3	NM_031946.7(AGAP3):c.756C>T:p.Arg252=	coding	Benign
7	151175959	A	G	A151175959G	ASB10	NM_001142459.2(ASB10):c.*8T>C	noncoding	Benign
7	151176159	G	A	G151176159A	ASB10	NM_001142459.2(ASB10):c.1357C>T:p.Arg453Cys	coding	Benign
7	151176521	A	G	A151176521G	ASB10	NM_001142459.2(ASB10):c.1218+42T>C	noncoding	Benign
7	151176577	G	T	G151176577T	ASB10	NM_001142459.2(ASB10):c.1204C>A:p.Pro402Thr	coding	Benign
7	151180687	A	G	A151180687G	ASB10	NM_001142459.2(ASB10):c.1104+252T>C	noncoding	Benign
7	151180719	T	C	T151180719C	ASB10	NM_001142459.2(ASB10):c.1104+220A>G	noncoding	Benign
7	151180795	G	A	G151180795A	ASB10	NM_001142459.2(ASB10):c.1104+144C>T	noncoding	Benign
7	151180965	G	A	G151180965A	ASB10	NM_001142459.2(ASB10):c.1078C>T:p.Arg360Cys	coding	Benign
7	151180968	C	T	C151180968T	ASB10	NM_001142459.2(ASB10):c.1075G>A:p.Val359Ile	coding	Benign
7	151181019	G	A	G151181019A	ASB10	NM_001142459.2(ASB10):c.1024C>T:p.Leu342=	coding	Benign
7	151181462	T	C	T151181462C	ASB10	NM_001142459.2(ASB10):c.585-4A>G	noncoding	Benign
7	151181716	G	A	G151181716A	ASB10	NM_001142459.2(ASB10):c.585-258C>T	noncoding	Benign
7	151181758	T	G	T151181758G	ASB10	NM_001142459.2(ASB10):c.585-300A>C	noncoding	Benign
7	151186134	A	G	A151186134G	ASB10	NM_001142459.2(ASB10):c.584+258T>C	noncoding	Benign
7	151186139	G	A	G151186139A	ASB10	NM_001142459.2(ASB10):c.584+253C>T	noncoding	Benign
7	151186200	C	T	C151186200T	ASB10	NM_001142459.2(ASB10):c.584+192G>A	noncoding	Benign
7	151186460	G	A	G151186460A	ASB10	NM_001142459.2(ASB10):c.516C>T:p.Ala172=	coding	Benign
7	151186506	G	A	G151186506A	ASB10	NM_001142459.2(ASB10):c.470C>T:p.Ala157Val	coding	Benign
7	151186526	G	A	G151186526A	ASB10	NM_001142459.2(ASB10):c.450C>T:p.Thr150=	coding	Benign/Likely_benign
7	151186655	G	C	G151186655C	ASB10	NM_001142459.2(ASB10):c.321C>G:p.Leu107=	coding	Benign
7	151186674	C	T	C151186674T	ASB10	NM_001142459.2(ASB10):c.317-15G>A	noncoding	Benign
7	151186734	G	A	G151186734A	ASB10	NM_001142459.2(ASB10):c.317-75C>T	noncoding	Benign
7	151186805	C	T	C151186805T	ASB10	NM_001142459.2(ASB10):c.316+10G>A	noncoding	Benign
7	151187002	C	T	C151187002T	ASB10	NM_001142459.2(ASB10):c.129G>A:p.Pro43=	coding	Benign
7	151187667	G	C	G151187667C	ASB10	NM_080871.4(ASB10):c.56C>G:p.Pro19Arg	coding	Benign
7	151187857	T	A	T151187857A	ASB10	Single_allele	noncoding	Benign
7	151471448	G	A	G151471448A	RHEB	NM_005614.4(RHEB):c.333-7C>T	noncoding	Benign
7	151490963	T	C	T151490963C	RHEB	NM_005614.4(RHEB):c.104A>G:p.Tyr35Cys	coding	Pathogenic
7	151490963	T	G	T151490963G	RHEB	NM_005614.4(RHEB):c.104A>C:p.Tyr35Ser	coding	Pathogenic
7	151556802	C	T	C151556802T	PRKAG2	NM_016203.4(PRKAG2):c.*399G>A	noncoding	Benign/Likely_benign
7	151556817	G	A	G151556817A	PRKAG2	NM_016203.4(PRKAG2):c.*384C>T	noncoding	Benign/Likely_benign
7	151556900	T	C	T151556900C	PRKAG2	NM_016203.4(PRKAG2):c.*301A>G	noncoding	Benign
7	151557145	C	T	C151557145T	PRKAG2	NM_016203.4(PRKAG2):c.*56G>A	noncoding	Benign/Likely_benign
7	151557183	C	T	C151557183T	PRKAG2	NM_016203.4(PRKAG2):c.*18G>A	noncoding	Benign
7	151557247	A	G	A151557247G	PRKAG2	NM_016203.4(PRKAG2):c.1679-15T>C	noncoding	Benign
7	151560403	A	T	A151560403T	PRKAG2	NM_016203.4(PRKAG2):c.1678+121T>A	noncoding	Benign
7	151563954	C	T	C151563954T	PRKAG2	NM_016203.4(PRKAG2):c.1584+124G>A	noncoding	Benign
7	151564364	T	C	T151564364C	PRKAG2	NM_016203.4(PRKAG2):c.1438-140A>G	noncoding	Benign
7	151564404	A	T	A151564404T	PRKAG2	NM_016203.4(PRKAG2):c.1438-180T>A	noncoding	Benign
7	151566202	A	C	A151566202C	PRKAG2	NM_016203.4(PRKAG2):c.1234-317T>G	noncoding	Benign
7	151568628	C	T	C151568628T	PRKAG2	NM_016203.4(PRKAG2):c.1233+88G>A	noncoding	Benign
7	151570311	G	A	G151570311A	PRKAG2	NM_016203.4(PRKAG2):c.1052-86C>T	noncoding	Benign
7	151572708	A	G	A151572708G	PRKAG2	NM_016203.4(PRKAG2):c.1007T>C:p.Val336Ala	coding	Pathogenic
7	151572804	T	A	T151572804A	PRKAG2	NM_016203.4(PRKAG2):c.1006-95A>T	noncoding	Benign
7	151574883	C	G	C151574883G	PRKAG2	NM_016203.4(PRKAG2):c.1005+8G>C	noncoding	Benign/Likely_benign
7	151576438	G	T	G151576438T	PRKAG2	NM_016203.4(PRKAG2):c.879C>A:p.Phe293Leu	coding	Pathogenic/Likely_pathogenic
7	151576529	T	C	T151576529C	PRKAG2	NM_016203.4(PRKAG2):c.865-77A>G	noncoding	Benign
7	151576539	T	C	T151576539C	PRKAG2	NM_016203.4(PRKAG2):c.865-87A>G	noncoding	Benign
7	151576562	A	G	A151576562G	PRKAG2	NM_016203.4(PRKAG2):c.865-110T>C	noncoding	Benign
7	151576564	C	G	C151576564G	PRKAG2	NM_016203.4(PRKAG2):c.865-112G>C	noncoding	Benign
7	151595309	A	T	A151595309T	PRKAG2	NM_016203.4(PRKAG2):c.864+36T>A	noncoding	Benign
7	151631810	G	A	G151631810A	PRKAG2	NM_016203.4(PRKAG2):c.754+259C>T	noncoding	Benign
7	151632111	C	T	C151632111T	PRKAG2	NM_016203.4(PRKAG2):c.712G>A:p.Ala238Thr	coding	Benign/Likely_benign
7	151632500	G	A	G151632500A	PRKAG2	NM_016203.4(PRKAG2):c.685-362C>T	noncoding	Benign
7	151675712	T	C	T151675712C	PRKAG2	NM_016203.4(PRKAG2):c.467-75A>G	noncoding	Benign
7	151675960	G	A	G151675960A	PRKAG2	NM_016203.4(PRKAG2):c.467-323C>T	noncoding	Benign
7	151688267	C	A	C151688267A	PRKAG2	NM_016203.4(PRKAG2):c.467-12630G>T	noncoding	Benign
7	151710715	G	A	G151710715A	PRKAG2	NM_016203.4(PRKAG2):c.467-35078C>T	noncoding	Benign
7	151735700	T	C	T151735700C	PRKAG2	NM_016203.4(PRKAG2):c.466+45452A>G	noncoding	Benign
7	151735783	T	C	T151735783C	PRKAG2	NM_016203.4(PRKAG2):c.466+45369A>G	noncoding	Benign
7	151781101	A	G	A151781101G	PRKAG2	NM_016203.4(PRKAG2):c.466+51T>C	noncoding	Benign
7	151781492	C	T	C151781492T	PRKAG2	NM_016203.4(PRKAG2):c.187-61G>A	noncoding	Benign
7	151781516	T	C	T151781516C	PRKAG2	NM_016203.4(PRKAG2):c.187-85A>G	noncoding	Benign
7	151781527	C	T	C151781527T	PRKAG2	NM_016203.4(PRKAG2):c.187-96G>A	noncoding	Benign
7	151786359	A	G	A151786359G	PRKAG2	NM_016203.4(PRKAG2):c.186+111T>C	noncoding	Benign
7	151786518	C	A	C151786518A	PRKAG2	NM_016203.4(PRKAG2):c.138G>T:p.Pro46=	coding	Benign
7	151814296	C	G	C151814296G	PRKAG2	NM_016203.4(PRKAG2):c.115-27755G>C	noncoding	Benign
7	151814402	G	T	G151814402T	PRKAG2	NM_016203.4(PRKAG2):c.115-27861C>A	noncoding	Benign
7	151814552	C	T	C151814552T	PRKAG2	NM_016203.4(PRKAG2):c.115-28011G>A	coding	Benign
7	151814557	G	T	G151814557T	PRKAG2	NM_016203.4(PRKAG2):c.115-28016C>A	coding	Benign
7	151814685	C	T	C151814685T	PRKAG2	NM_016203.4(PRKAG2):c.115-28144G>A	coding	Benign
7	151814704	G	A	G151814704A	PRKAG2	NM_016203.4(PRKAG2):c.115-28163C>T	coding	Benign
7	151814744	A	C	A151814744C	PRKAG2	NM_016203.4(PRKAG2):c.115-28203T>G	coding	Benign
7	151814747	G	A	G151814747A	PRKAG2	NM_016203.4(PRKAG2):c.115-28206C>T	coding	Benign
7	151814748	G	T	G151814748T	PRKAG2	NM_016203.4(PRKAG2):c.115-28207C>A	coding	Benign
7	151814749	T	C	T151814749C	PRKAG2	NM_016203.4(PRKAG2):c.115-28208A>G	coding	Benign
7	151814877	C	A	C151814877A	PRKAG2	NM_016203.4(PRKAG2):c.115-28336G>T	noncoding	Benign
7	151863473	T	C	T151863473C	PRKAG2	NM_016203.4(PRKAG2):c.114+13034A>G	noncoding	Benign
7	151876555	G	C	G151876555C	PRKAG2	NM_016203.4(PRKAG2):c.66C>G:p.Gly22=	coding	Benign/Likely_benign
7	151876699	G	C	G151876699C	PRKAG2	NM_016203.4(PRKAG2):c.-79C>G	noncoding	Benign
7	151876974	A	C	A151876974C	PRKAG2	NM_016203.4(PRKAG2):c.-354T>G	noncoding	Benign
7	151876988	G	A	G151876988A	PRKAG2	NM_016203.4(PRKAG2):c.-368C>T	noncoding	Benign
7	151877180	G	A	G151877180A	PRKAG2	NM_016203.3(PRKAG2):c.-560C>T	noncoding	Benign/Likely_benign
7	151877573	C	T	C151877573T	PRKAG2	Single_allele	noncoding	Benign
7	152138915	C	T	C152138915T	KMT2C	NM_170606.3(KMT2C):c.14535-11G>A	noncoding	Benign
7	152145254	G	A	G152145254A	KMT2C	NM_170606.3(KMT2C):c.14073C>T:p.Tyr4691=	coding	Benign
7	152145270	T	C	T152145270C	KMT2C	NM_170606.3(KMT2C):c.14057A>G:p.Asn4686Ser	coding	Benign
7	152145312	C	T	C152145312T	KMT2C	NM_170606.3(KMT2C):c.14032-17G>A	noncoding	Benign
7	152146608	T	A	T152146608A	KMT2C	NM_170606.3(KMT2C):c.14022A>T:p.Ile4674=	coding	Benign
7	152148904	C	T	C152148904T	KMT2C	NM_170606.3(KMT2C):c.13023G>A:p.Gly4341=	coding	Benign
7	152148909	C	T	C152148909T	KMT2C	NM_170606.3(KMT2C):c.13018G>A:p.Gly4340Ser	coding	Benign
7	152151453	G	C	G152151453C	KMT2C	NM_170606.3(KMT2C):c.12655C>G:p.Leu4219Val	coding	Benign
7	152151538	G	A	G152151538A	KMT2C	NM_170606.3(KMT2C):c.12570C>T:p.Ser4190=	coding	Benign
7	152154112	C	T	C152154112T	KMT2C	NM_170606.3(KMT2C):c.12174G>A:p.Glu4058=	coding	Benign
7	152154161	A	G	A152154161G	KMT2C	NM_170606.3(KMT2C):c.12140-15T>C	noncoding	Benign
7	152154307	C	T	C152154307T	KMT2C	NM_170606.3(KMT2C):c.12099G>A:p.Pro4033=	coding	Benign
7	152154459	A	C	A152154459C	KMT2C	NM_170606.3(KMT2C):c.11961-14T>G	noncoding	Benign
7	152156333	C	T	C152156333T	KMT2C	NM_170606.3(KMT2C):c.11684G>A:p.Ser3895Asn	coding	Benign
7	152159005	C	G	C152159005G	KMT2C	NM_170606.3(KMT2C):c.11528G>C:p.Gly3843Ala	coding	Benign
7	152159027	G	T	G152159027T	KMT2C	NM_170606.3(KMT2C):c.11506C>A:p.Gln3836Lys	coding	Benign
7	152159063	C	G	C152159063G	KMT2C	NM_170606.3(KMT2C):c.11470G>C:p.Gly3824Arg	coding	Benign
7	152162335	C	T	C152162335T	KMT2C	NM_170606.3(KMT2C):c.11242G>A:p.Ala3748Thr	coding	Benign
7	152162597	C	T	C152162597T	KMT2C	NM_170606.3(KMT2C):c.10980G>A:p.Ser3660=	coding	Benign
7	152162598	G	A	G152162598A	KMT2C	NM_170606.3(KMT2C):c.10979C>T:p.Ser3660Leu	coding	Benign
7	152162641	C	T	C152162641T	KMT2C	NM_170606.3(KMT2C):c.10936G>A:p.Val3646Met	coding	Benign
7	152162814	G	A	G152162814A	KMT2C	NM_170606.3(KMT2C):c.10763C>T:p.Ser3588Leu	coding	Benign
7	152162818	G	C	G152162818C	KMT2C	NM_170606.3(KMT2C):c.10759C>G:p.Gln3587Glu	coding	Benign
7	152162854	T	C	T152162854C	KMT2C	NM_170606.3(KMT2C):c.10723A>G:p.Thr3575Ala	coding	Benign
7	152162865	C	T	C152162865T	KMT2C	NM_170606.3(KMT2C):c.10712G>A:p.Gly3571Asp	coding	Benign
7	152163182	A	C	A152163182C	KMT2C	NM_170606.3(KMT2C):c.10395T>G:p.Pro3465=	coding	Benign
7	152163278	C	T	C152163278T	KMT2C	NM_170606.3(KMT2C):c.10299G>A:p.Gln3433=	coding	Benign
7	152163603	C	A	C152163603A	KMT2C	NM_170606.3(KMT2C):c.9974G>T:p.Ser3325Ile	coding	Benign
7	152167332	T	C	T152167332C	KMT2C	NM_170606.3(KMT2C):c.9564A>G:p.Gln3188=	coding	Benign
7	152176208	G	A	G152176208A	KMT2C	NM_170606.3(KMT2C):c.9245C>T:p.Pro3082Leu	coding	Benign
7	152176573	C	T	C152176573T	KMT2C	NM_170606.3(KMT2C):c.8880G>A:p.Pro2960=	coding	Benign
7	152176768	C	T	C152176768T	KMT2C	NM_170606.3(KMT2C):c.8685G>A:p.Gln2895=	coding	Benign
7	152176965	T	G	T152176965G	KMT2C	NM_170606.3(KMT2C):c.8488A>C:p.Asn2830His	coding	Benign
7	152177022	A	G	A152177022G	KMT2C	NM_170606.3(KMT2C):c.8431T>C:p.Ser2811Pro	coding	Benign
7	152177413	C	T	C152177413T	KMT2C	NM_170606.3(KMT2C):c.8040G>A:p.Gln2680=	coding	Benign
7	152177495	A	G	A152177495G	KMT2C	NM_170606.3(KMT2C):c.7958T>C:p.Leu2653Pro	coding	Benign
7	152177572	T	C	T152177572C	KMT2C	NM_170606.3(KMT2C):c.7881A>G:p.Gln2627=	coding	Benign
7	152177622	G	A	G152177622A	KMT2C	NM_170606.3(KMT2C):c.7831C>T:p.Pro2611Ser	coding	Benign
7	152177628	G	A	G152177628A	KMT2C	NM_170606.3(KMT2C):c.7825C>T:p.Arg2609Ter	coding	Pathogenic
7	152177724	G	A	G152177724A	KMT2C	NM_170606.3(KMT2C):c.7729C>T:p.Pro2577Ser	coding	Benign
7	152178016	A	T	A152178016T	KMT2C	NM_170606.3(KMT2C):c.7443-6T>A	noncoding	Benign/Likely_benign
7	152178017	A	T	A152178017T	KMT2C	NM_170606.3(KMT2C):c.7443-7T>A	noncoding	Benign
7	152178023	A	T	A152178023T	KMT2C	NM_170606.3(KMT2C):c.7443-13T>A	noncoding	Benign
7	152178024	A	T	A152178024T	KMT2C	NM_170606.3(KMT2C):c.7443-14T>A	noncoding	Benign
7	152180042	G	T	G152180042T	KMT2C	NM_170606.3(KMT2C):c.7234C>A:p.Pro2412Thr	coding	Benign
7	152180043	T	C	T152180043C	KMT2C	NM_170606.3(KMT2C):c.7233A>G:p.Ser2411_Pro2412=	coding	Benign
7	152181024	G	A	G152181024A	KMT2C	NM_170606.3(KMT2C):c.6836C>T:p.Pro2279Leu	coding	Benign
7	152181068	C	T	C152181068T	KMT2C	NM_170606.3(KMT2C):c.6792G>A:p.Pro2264=	coding	Benign
7	152181193	C	T	C152181193T	KMT2C	NM_170606.3(KMT2C):c.6667G>A:p.Ala2223Thr	coding	Benign
7	152181207	T	G	T152181207G	KMT2C	NM_170606.3(KMT2C):c.6653A>C:p.Tyr2218Ser	coding	Benign
7	152181778	G	A	G152181778A	KMT2C	NM_170606.3(KMT2C):c.6082C>T:p.Arg2028Ter	coding	Pathogenic
7	152181787	A	T	A152181787T	KMT2C	NM_170606.3(KMT2C):c.6073T>A:p.Ser2025Thr	coding	Benign
7	152181908	T	G	T152181908G	KMT2C	NM_170606.3(KMT2C):c.5952A>C:p.Leu1984=	coding	Benign
7	152182220	T	C	T152182220C	KMT2C	NM_170606.3(KMT2C):c.5640A>G:p.Gln1880=	coding	Benign
7	152182226	T	G	T152182226G	KMT2C	NM_170606.3(KMT2C):c.5634A>C:p.Ser1878=	coding	Benign
7	152182229	G	C	G152182229C	KMT2C	NM_170606.3(KMT2C):c.5631C>G:p.Pro1877=	coding	Benign
7	152182273	G	C	G152182273C	KMT2C	NM_170606.3(KMT2C):c.5587C>G:p.Pro1863Ala	coding	Benign
7	152182328	A	G	A152182328G	KMT2C	NM_170606.3(KMT2C):c.5532T>C:p.Asp1844=	coding	Benign
7	152182404	A	G	A152182404G	KMT2C	NM_170606.3(KMT2C):c.5456T>C:p.Met1819Thr	coding	Benign
7	152182441	G	A	G152182441A	KMT2C	NM_170606.3(KMT2C):c.5419C>T:p.Gln1807Ter	coding	Pathogenic
7	152183068	C	A	C152183068A	KMT2C	NM_170606.3(KMT2C):c.5171G>T:p.Ser1724Ile	coding	Benign
7	152183176	A	G	A152183176G	KMT2C	NM_170606.3(KMT2C):c.5083-20T>C	noncoding	Benign
7	152185587	C	A	C152185587A	KMT2C	NM_170606.3(KMT2C):c.5053G>T:p.Ala1685Ser	coding	Benign
7	152185650	G	A	G152185650A	KMT2C	NM_170606.3(KMT2C):c.5009-19C>T	noncoding	Benign
7	152187453	G	A	G152187453A	KMT2C	NM_170606.3(KMT2C):c.4817C>T:p.Pro1606Leu	coding	Benign
7	152187468	T	C	T152187468C	KMT2C	NM_170606.3(KMT2C):c.4802A>G:p.Asn1601Ser	coding	Benign
7	152194273	T	A	T152194273A	KMT2C	NM_170606.3(KMT2C):c.4508-12A>T	noncoding	Benign
7	152194274	A	T	A152194274T	KMT2C	NM_170606.3(KMT2C):c.4508-13T>A	noncoding	Benign
7	152194435	T	C	T152194435C	KMT2C	NM_170606.3(KMT2C):c.4507+5A>G	noncoding	Benign
7	152199265	A	C	A152199265C	KMT2C	NM_170606.3(KMT2C):c.4273+14T>G	noncoding	Benign
7	152199297	T	C	T152199297C	KMT2C	NM_170606.3(KMT2C):c.4255A>G:p.Thr1419Ala	coding	Benign
7	152202952	A	C	A152202952C	KMT2C	NM_170606.3(KMT2C):c.4074T>G:p.Thr1358=	coding	Benign
7	152222013	C	G	C152222013G	KMT2C	NM_170606.3(KMT2C):c.3487G>C:p.Val1163Leu	coding	Benign
7	152229918	T	A	T152229918A	KMT2C	NM_170606.3(KMT2C):c.2976+5A>T	noncoding	Benign
7	152229931	T	C	T152229931C	KMT2C	NM_170606.3(KMT2C):c.2968A>G:p.Ser990Gly	coding	Benign
7	152235812	C	A	C152235812A	KMT2C	NM_170606.3(KMT2C):c.2769+5G>T	noncoding	Benign
7	152235864	C	A	C152235864A	KMT2C	NM_170606.3(KMT2C):c.2722G>T:p.Gly908Cys	coding	Benign
7	152235884	A	G	A152235884G	KMT2C	NM_170606.3(KMT2C):c.2702T>C:p.Leu901Pro	coding	Benign
7	152235948	G	A	G152235948A	KMT2C	NM_170606.3(KMT2C):c.2653-15C>T	noncoding	Benign
7	152248016	G	C	G152248016C	KMT2C	NM_170606.3(KMT2C):c.2418C>G:p.Ser806=	coding	Benign
7	152248196	C	T	C152248196T	KMT2C	NM_170606.3(KMT2C):c.2238G>A:p.Glu746=	coding	Benign/Likely_benign
7	152248249	T	C	T152248249C	KMT2C	NM_170606.3(KMT2C):c.2185A>G:p.Asn729Asp	coding	Benign
7	152248379	T	C	T152248379C	KMT2C	NM_170606.3(KMT2C):c.2055A>G:p.Pro685=	coding	Benign
7	152249894	C	A	C152249894A	KMT2C	NM_170606.3(KMT2C):c.1795G>T:p.Asp599Tyr	coding	Benign/Likely_benign
7	152251983	C	G	C152251983G	KMT2C	NM_170606.3(KMT2C):c.1577G>C:p.Arg526Pro	coding	Benign
7	152252024	A	G	A152252024G	KMT2C	NM_170606.3(KMT2C):c.1536T>C:p.Tyr512=	coding	Benign
7	152252593	A	G	A152252593G	KMT2C	NM_170606.3(KMT2C):c.1422T>C:p.Tyr474=	coding	Benign
7	152263001	A	C	A152263001C	KMT2C	NM_170606.3(KMT2C):c.1299+15T>G	noncoding	Benign
7	152265049	G	T	G152265049T	KMT2C	NM_170606.3(KMT2C):c.1173C>A:p.Cys391Ter	coding	Benign/Likely_benign
7	152265083	C	A	C152265083A	KMT2C	NM_170606.3(KMT2C):c.1139G>T:p.Arg380Leu	coding	Benign/Likely_benign
7	152265091	T	A	T152265091A	KMT2C	NM_170606.3(KMT2C):c.1131A>T:p.Pro377=	coding	Benign
7	152265100	C	T	C152265100T	KMT2C	NM_170606.3(KMT2C):c.1122G>A:p.Ala374=	coding	Benign
7	152273690	C	G	C152273690G	KMT2C	NM_170606.3(KMT2C):c.1012+15G>C	noncoding	Benign
7	152273692	G	A	G152273692A	KMT2C	NM_170606.3(KMT2C):c.1012+13C>T	noncoding	Benign
7	152273712	A	T	A152273712T	KMT2C	NM_170606.3(KMT2C):c.1005T>A:p.Pro335=	coding	Benign
7	152273750	T	C	T152273750C	KMT2C	NM_170606.3(KMT2C):c.967A>G:p.Ile323Val	coding	Benign
7	152273774	C	T	C152273774T	KMT2C	NM_170606.3(KMT2C):c.943G>A:p.Gly315Ser	coding	Benign
7	152273796	A	G	A152273796G	KMT2C	NM_170606.3(KMT2C):c.921T>C:p.His307=	coding	Benign
7	152273884	A	C	A152273884C	KMT2C	NM_170606.3(KMT2C):c.850-17T>G	noncoding	Benign
7	152309999	G	A	G152309999A	KMT2C	NM_170606.3(KMT2C):c.816C>T:p.Asn272=	coding	Benign
7	152310011	T	C	T152310011C	KMT2C	NM_170606.3(KMT2C):c.804A>G:p.Pro268=	coding	Benign
7	152311797	C	T	C152311797T	KMT2C	NM_170606.3(KMT2C):c.739+1G>A	noncoding	Pathogenic
7	152358656	T	C	T152358656C	KMT2C	NM_170606.3(KMT2C):c.181A>G:p.Thr61Ala	coding	Benign
7	152358692	A	T	A152358692T	KMT2C	NM_170606.3(KMT2C):c.162-17T>A	noncoding	Benign
7	152435727	C	T	C152435727T	KMT2C	NM_170606.3(KMT2C):c.60G>A:p.Glu20=	coding	Benign
7	152648602	C	G	C152648602G	XRCC2	NM_005431.2(XRCC2):c.*40G>C	noncoding	Benign
7	152648759	G	A	G152648759A	XRCC2	NM_005431.2(XRCC2):c.726C>T:p.Ser242=	coding	Benign/Likely_benign
7	152649095	A	C	A152649095C	XRCC2	NM_005431.2(XRCC2):c.390T>G:p.Leu130=	coding	Benign/Likely_benign
7	152660543	A	C	A152660543C	XRCC2	NM_005431.2(XRCC2):c.121+158T>G	noncoding	Benign
7	152675731	C	G	C152675731G	XRCC2	NM_005431.2(XRCC2):c.39+310G>C	noncoding	Benign
7	152676033	G	C	G152676033C	XRCC2	NM_005431.2(XRCC2):c.39+8C>G	noncoding	Benign/Likely_benign
7	152676148	A	C	A152676148C	XRCC2	Single_allele	noncoding	Benign
7	152676167	C	G	C152676167G	XRCC2	Single_allele	noncoding	Benign
7	152676331	G	A	G152676331A	XRCC2	Single_allele	noncoding	Benign
7	154052343	G	C	G154052343C	DPP6	NM_001039350.3(DPP6):c.51+164609G>C	noncoding	Benign
7	154052668	C	T	C154052668T	DPP6	NM_130797.4(DPP6):c.-153C>T	coding	Benign
7	154052934	C	T	C154052934T	DPP6	NM_130797.4(DPP6):c.114C>T:p.Gly38=	coding	Benign
7	154053149	T	G	T154053149G	DPP6	NM_130797.4(DPP6):c.243+86T>G	noncoding	Benign
7	154305122	G	A	G154305122A	DPP6	NM_130797.4(DPP6):c.244-141092G>A	noncoding	Benign
7	154305770	T	C	T154305770C	DPP6	NM_130797.4(DPP6):c.244-140444T>C	noncoding	Benign
7	154446213	G	A	G154446213A	DPP6	NM_130797.4(DPP6):c.244-1G>A	noncoding	Pathogenic
7	154446358	C	T	C154446358T	DPP6	NM_130797.4(DPP6):c.358+30C>T	noncoding	Benign
7	154446472	T	C	T154446472C	DPP6	NM_130797.4(DPP6):c.358+144T>C	noncoding	Benign
7	154475001	T	C	T154475001C	DPP6	NM_130797.4(DPP6):c.421T>C:p.Phe141Leu	coding	Benign
7	154475069	G	A	G154475069A	DPP6	NM_130797.4(DPP6):c.457+32G>A	noncoding	Benign
7	154540271	A	G	A154540271G	DPP6	NM_130797.4(DPP6):c.458-261A>G	noncoding	Benign
7	154540329	A	G	A154540329G	DPP6	NM_130797.4(DPP6):c.458-203A>G	noncoding	Benign
7	154540373	A	G	A154540373G	DPP6	NM_130797.4(DPP6):c.458-159A>G	noncoding	Benign
7	154540528	A	G	A154540528G	DPP6	NM_130797.4(DPP6):c.458-4A>G	noncoding	Benign
7	154540757	T	C	T154540757C	DPP6	NM_130797.4(DPP6):c.552+131T>C	noncoding	Benign
7	154540855	G	A	G154540855A	DPP6	NM_130797.4(DPP6):c.552+229G>A	noncoding	Benign
7	154566640	T	A	T154566640A	DPP6	NM_130797.4(DPP6):c.553-202T>A	noncoding	Benign
7	154566729	C	T	C154566729T	DPP6	NM_130797.4(DPP6):c.553-113C>T	noncoding	Benign
7	154587524	T	C	T154587524C	DPP6	NM_130797.4(DPP6):c.627+20608T>C	noncoding	Benign
7	154587807	C	T	C154587807T	DPP6	NM_130797.4(DPP6):c.627+20891C>T	coding	Benign
7	154588029	C	T	C154588029T	DPP6	NM_130797.4(DPP6):c.627+21113C>T	coding	Benign
7	154588278	G	A	G154588278A	DPP6	NM_130797.4(DPP6):c.627+21362G>A	coding	Benign
7	154637515	C	G	C154637515G	DPP6	NM_130797.4(DPP6):c.628-306C>G	noncoding	Benign
7	154637850	C	T	C154637850T	DPP6	NM_130797.4(DPP6):c.657C>T:p.Tyr219=	coding	Benign
7	154637947	T	C	T154637947C	DPP6	NM_130797.4(DPP6):c.680+74T>C	noncoding	Benign
7	154638094	C	G	C154638094G	DPP6	NM_130797.4(DPP6):c.680+221C>G	noncoding	Benign
7	154638111	G	T	G154638111T	DPP6	NM_130797.4(DPP6):c.680+238G>T	noncoding	Benign
7	154638136	A	G	A154638136G	DPP6	NM_130797.4(DPP6):c.680+263A>G	noncoding	Benign
7	154669069	T	G	T154669069G	DPP6	NM_130797.4(DPP6):c.681-291T>G	noncoding	Benign
7	154669402	A	G	A154669402G	DPP6	NM_130797.4(DPP6):c.723A>G:p.Lys241=	coding	Benign
7	154669581	G	A	G154669581A	DPP6	NM_130797.4(DPP6):c.762+140G>A	noncoding	Benign
7	154727817	G	A	G154727817A	DPP6	NM_130797.4(DPP6):c.813G>A:p.Gln271=	coding	Benign
7	154727896	T	C	T154727896C	DPP6	NM_130797.4(DPP6):c.883+9T>C	noncoding	Benign
7	154728182	C	T	C154728182T	DPP6	NM_130797.4(DPP6):c.883+295C>T	noncoding	Benign
7	154728183	G	A	G154728183A	DPP6	NM_130797.4(DPP6):c.883+296G>A	noncoding	Benign
7	154769478	C	T	C154769478T	DPP6	NM_130797.4(DPP6):c.945C>T:p.Tyr315=	coding	Benign
7	154772622	C	T	C154772622T	DPP6	NM_130797.4(DPP6):c.1039-223C>T	noncoding	Benign
7	154772624	G	A	G154772624A	DPP6	NM_130797.4(DPP6):c.1039-221G>A	noncoding	Benign
7	154794305	G	C	G154794305C	DPP6	NM_130797.4(DPP6):c.1260+103G>C	noncoding	Benign
7	154794358	C	T	C154794358T	DPP6	NM_130797.4(DPP6):c.1260+156C>T	noncoding	Benign
7	154794494	C	G	C154794494G	DPP6	NM_130797.4(DPP6):c.1260+292C>G	noncoding	Benign
7	154794534	G	A	G154794534A	DPP6	NM_130797.4(DPP6):c.1260+332G>A	noncoding	Benign
7	154795657	G	A	G154795657A	DPP6	NM_130797.4(DPP6):c.1261-188G>A	noncoding	Benign
7	154795797	G	A	G154795797A	DPP6	NM_130797.4(DPP6):c.1261-48G>A	noncoding	Benign
7	154796030	A	G	A154796030G	DPP6	NM_130797.4(DPP6):c.1299+147A>G	noncoding	Benign
7	154796083	A	G	A154796083G	DPP6	NM_130797.4(DPP6):c.1299+200A>G	noncoding	Benign
7	154801059	G	A	G154801059A	DPP6	NM_130797.4(DPP6):c.1300-296G>A	noncoding	Benign
7	154801076	C	T	C154801076T	DPP6	NM_130797.4(DPP6):c.1300-279C>T	noncoding	Benign
7	154801156	T	G	T154801156G	DPP6	NM_130797.4(DPP6):c.1300-199T>G	noncoding	Benign
7	154801255	C	T	C154801255T	DPP6	NM_130797.4(DPP6):c.1300-100C>T	noncoding	Benign
7	154801337	C	A	C154801337A	DPP6	NM_130797.4(DPP6):c.1300-18C>A	noncoding	Benign
7	154801668	C	A	C154801668A	DPP6	NM_130797.4(DPP6):c.1407+206C>A	noncoding	Benign
7	154803827	C	T	C154803827T	DPP6	NM_130797.4(DPP6):c.1408-37C>T	noncoding	Benign
7	154804807	G	A	G154804807A	DPP6	NM_130797.4(DPP6):c.1500-110G>A	noncoding	Benign
7	154805057	C	T	C154805057T	DPP6	NM_130797.4(DPP6):c.1547+93C>T	noncoding	Benign
7	154805274	C	T	C154805274T	DPP6	NM_130797.4(DPP6):c.1547+310C>T	noncoding	Benign
7	154805275	G	A	G154805275A	DPP6	NM_130797.4(DPP6):c.1547+311G>A	noncoding	Benign
7	154806929	G	A	G154806929A	DPP6	NM_130797.4(DPP6):c.1548-65G>A	noncoding	Benign
7	154807198	A	G	A154807198G	DPP6	NM_130797.4(DPP6):c.1666+86A>G	noncoding	Benign
7	154807201	G	T	G154807201T	DPP6	NM_130797.4(DPP6):c.1666+89G>T	noncoding	Benign
7	154807293	A	G	A154807293G	DPP6	NM_130797.4(DPP6):c.1666+181A>G	noncoding	Benign
7	154807301	G	A	G154807301A	DPP6	NM_130797.4(DPP6):c.1666+189G>A	noncoding	Benign
7	154853696	A	G	A154853696G	DPP6	NM_130797.4(DPP6):c.1667-84A>G	noncoding	Benign
7	154853866	C	T	C154853866T	DPP6	NM_130797.4(DPP6):c.1714+39C>T	noncoding	Benign
7	154867832	G	A	G154867832A	DPP6	NM_130797.4(DPP6):c.1715-163G>A	noncoding	Benign
7	154867841	A	C	A154867841C	DPP6	NM_130797.4(DPP6):c.1715-154A>C	noncoding	Benign
7	154867855	T	C	T154867855C	DPP6	NM_130797.4(DPP6):c.1715-140T>C	noncoding	Benign
7	154867856	T	G	T154867856G	DPP6	NM_130797.4(DPP6):c.1715-139T>G	noncoding	Benign
7	154867857	T	G	T154867857G	DPP6	NM_130797.4(DPP6):c.1715-138T>G	noncoding	Benign
7	154868179	C	G	C154868179G	DPP6	NM_130797.4(DPP6):c.1813+86C>G	noncoding	Benign
7	154868190	A	G	A154868190G	DPP6	NM_130797.4(DPP6):c.1813+97A>G	noncoding	Benign
7	154868261	A	G	A154868261G	DPP6	NM_130797.4(DPP6):c.1813+168A>G	noncoding	Benign
7	154868358	A	T	A154868358T	DPP6	NM_130797.4(DPP6):c.1813+265A>T	noncoding	Benign
7	154872800	C	T	C154872800T	DPP6	NM_130797.4(DPP6):c.1883+107C>T	noncoding	Benign
7	154872824	C	G	C154872824G	DPP6	NM_130797.4(DPP6):c.1883+131C>G	noncoding	Benign
7	154872964	G	A	G154872964A	DPP6	NM_130797.4(DPP6):c.1883+271G>A	noncoding	Benign
7	154875647	C	A	C154875647A	DPP6	NM_130797.4(DPP6):c.1884-259C>A	noncoding	Benign
7	154875689	T	C	T154875689C	DPP6	NM_130797.4(DPP6):c.1884-217T>C	noncoding	Benign
7	154875763	A	G	A154875763G	DPP6	NM_130797.4(DPP6):c.1884-143A>G	noncoding	Benign
7	154875933	G	A	G154875933A	DPP6	NM_130797.4(DPP6):c.1911G>A:p.Val637=	coding	Benign
7	154875978	C	T	C154875978T	DPP6	NM_130797.4(DPP6):c.1956C>T:p.Ser652=	coding	Benign
7	154876126	G	A	G154876126A	DPP6	NM_130797.4(DPP6):c.2078+26G>A	noncoding	Benign
7	154876132	G	A	G154876132A	DPP6	NM_130797.4(DPP6):c.2078+32G>A	noncoding	Benign
7	154876197	C	T	C154876197T	DPP6	NM_130797.4(DPP6):c.2078+97C>T	noncoding	Benign
7	154876209	T	G	T154876209G	DPP6	NM_130797.4(DPP6):c.2078+109T>G	noncoding	Benign
7	154876272	G	A	G154876272A	DPP6	NM_130797.4(DPP6):c.2078+172G>A	noncoding	Benign
7	154880582	C	T	C154880582T	DPP6	NM_130797.4(DPP6):c.2079-306C>T	noncoding	Benign
7	154880841	G	C	G154880841C	DPP6	NM_130797.4(DPP6):c.2079-47G>C	noncoding	Benign
7	154880936	T	C	T154880936C	DPP6	NM_130797.4(DPP6):c.2127T>C:p.Phe709=	coding	Benign
7	154880952	C	T	C154880952T	DPP6	NM_130797.4(DPP6):c.2133+10C>T	noncoding	Benign
7	154880969	A	T	A154880969T	DPP6	NM_130797.4(DPP6):c.2133+27A>T	noncoding	Benign
7	154880993	G	A	G154880993A	DPP6	NM_130797.4(DPP6):c.2133+51G>A	noncoding	Benign
7	154881007	G	A	G154881007A	DPP6	NM_130797.4(DPP6):c.2133+65G>A	noncoding	Benign
7	154881099	G	A	G154881099A	DPP6	NM_130797.4(DPP6):c.2133+157G>A	noncoding	Benign
7	154881129	C	T	C154881129T	DPP6	NM_130797.4(DPP6):c.2133+187C>T	noncoding	Benign
7	154885375	G	A	G154885375A	DPP6	NM_130797.4(DPP6):c.2134-258G>A	noncoding	Benign
7	154885704	C	T	C154885704T	DPP6	NM_130797.4(DPP6):c.2205C>T:p.Cys735=	coding	Benign
7	154885942	A	G	A154885942G	DPP6	NM_130797.4(DPP6):c.2245+198A>G	noncoding	Benign
7	154886029	G	A	G154886029A	DPP6	NM_130797.4(DPP6):c.2245+285G>A	noncoding	Benign
7	154887592	T	C	T154887592C	DPP6	NM_130797.4(DPP6):c.2246-84T>C	noncoding	Benign
7	154887737	G	A	G154887737A	DPP6	NM_130797.4(DPP6):c.2304+3G>A	noncoding	Benign
7	154887881	G	A	G154887881A	DPP6	NM_130797.4(DPP6):c.2304+147G>A	noncoding	Benign
7	154887900	G	C	G154887900C	DPP6	NM_130797.4(DPP6):c.2304+166G>C	noncoding	Benign
7	154887901	A	C	A154887901C	DPP6	NM_130797.4(DPP6):c.2304+167A>C	noncoding	Benign
7	154887993	T	C	T154887993C	DPP6	NM_130797.4(DPP6):c.2304+259T>C	noncoding	Benign
7	154889200	G	T	G154889200T	DPP6	NM_130797.4(DPP6):c.2305-72G>T	noncoding	Benign
7	154889340	C	T	C154889340T	DPP6	NM_130797.4(DPP6):c.2373C>T:p.Ala791=	coding	Benign
7	154889506	G	A	G154889506A	DPP6	NM_130797.4(DPP6):c.2427G>A:p.Arg809=	coding	Benign
7	154889653	A	T	A154889653T	DPP6	NM_130797.4(DPP6):c.2451+123A>T	noncoding	Benign
7	154889673	T	C	T154889673C	DPP6	NM_130797.4(DPP6):c.2451+143T>C	noncoding	Benign
7	154892443	T	C	T154892443C	DPP6	NM_130797.4(DPP6):c.2561T>C:p.Leu854Pro	coding	Benign
7	154892593	T	A	T154892593A	DPP6	NM_130797.4(DPP6):c.*113T>A	noncoding	Benign
7	155462637	T	C	T155462637C	EN2	NM_001427.4(EN2):c.952T>C:p.Leu318=	coding	Benign
7	155800076	G	T	G155800076T	SHH	NM_000193.4(SHH):c.*2824C>A	coding	Pathogenic
7	155803897	C	G	C155803897G	SHH	NM_000193.4(SHH):c.563-171G>C	noncoding	Benign
7	155806280	G	T	G155806280T	SHH	NM_000193.4(SHH):c.562+16C>A	noncoding	Benign
7	155806295	C	T	C155806295T	SHH	NM_000193.4(SHH):c.562+1G>A	noncoding	Pathogenic
7	155806333	G	C	G155806333C	SHH	NM_000193.4(SHH):c.525C>G:p.Tyr175Ter	coding	Pathogenic
7	155806688	G	A	G155806688A	SHH	NM_000193.4(SHH):c.301-131C>T	noncoding	Benign/Likely_benign
7	155811910	C	T	C155811910T	SHH	NM_000193.4(SHH):c.213G>A:p.Glu71=	coding	Benign/Likely_benign
7	155812377	C	T	C155812377T	SHH	NM_000193.4(SHH):c.-255G>A	noncoding	Benign
7	156684370	A	G	A156684370G	LMBR1	NM_022458.4(LMBR1):c.1388-207T>C	noncoding	Benign
7	156687939	G	A	G156687939A	LMBR1	NM_022458.4(LMBR1):c.1387+91C>T	noncoding	Benign
7	156688442	C	T	C156688442T	LMBR1	NM_022458.4(LMBR1):c.1226-251G>A	noncoding	Benign
7	156688489	A	T	A156688489T	LMBR1	NM_022458.4(LMBR1):c.1226-298T>A	noncoding	Benign
7	156723859	T	C	T156723859C	LMBR1	NM_022458.4(LMBR1):c.1225+253A>G	noncoding	Benign
7	156724257	G	T	G156724257T	LMBR1	NM_022458.4(LMBR1):c.1159-79C>A	noncoding	Benign
7	156724262	T	C	T156724262C	LMBR1	NM_022458.4(LMBR1):c.1159-84A>G	noncoding	Benign
7	156725313	T	C	T156725313C	LMBR1	NM_022458.4(LMBR1):c.1158+122A>G	noncoding	Benign
7	156725565	A	G	A156725565G	LMBR1	NM_022458.4(LMBR1):c.1068-40T>C	noncoding	Benign
7	156726115	T	C	T156726115C	LMBR1	NM_022458.4(LMBR1):c.994-278A>G	noncoding	Benign
7	156728799	A	T	A156728799T	LMBR1	NM_022458.4(LMBR1):c.839-79T>A	noncoding	Benign
7	156733951	G	T	G156733951T	LMBR1	NM_022458.4(LMBR1):c.838+226C>A	noncoding	Benign
7	156734411	T	C	T156734411C	LMBR1	NM_022458.4(LMBR1):c.758-154A>G	noncoding	Benign
7	156756501	G	A	G156756501A	LMBR1	NM_022458.4(LMBR1):c.685-36C>T	noncoding	Benign
7	156756661	A	T	A156756661T	LMBR1	NM_022458.4(LMBR1):c.685-196T>A	noncoding	Benign
7	156762898	C	T	C156762898T	LMBR1	NM_022458.4(LMBR1):c.619+210G>A	noncoding	Benign
7	156762900	A	G	A156762900G	LMBR1	NM_022458.4(LMBR1):c.619+208T>C	noncoding	Benign
7	156763441	A	C	A156763441C	LMBR1	NM_022458.4(LMBR1):c.550+228T>G	noncoding	Benign
7	156763628	G	A	G156763628A	LMBR1	NM_022458.4(LMBR1):c.550+41C>T	noncoding	Benign
7	156764032	T	C	T156764032C	LMBR1;SHH	NM_022458.4(LMBR1):c.424-237A>G	noncoding	Benign/Likely_benign
7	156769273	C	T	C156769273T	SHH	NM_022458.4(LMBR1):c.424-5478G>A	noncoding	Benign
7	156769277	A	G	A156769277G	SHH	NM_022458.4(LMBR1):c.424-5482T>C	noncoding	Benign
7	156769346	A	C	A156769346C	SHH	NM_022458.4(LMBR1):c.424-5551T>G	noncoding	Benign
7	156769398	G	C	G156769398C	SHH	NM_022458.4(LMBR1):c.424-5603C>G	noncoding	Benign
7	156769402	G	A	G156769402A	SHH	NM_022458.4(LMBR1):c.424-5607C>T	noncoding	Benign
7	156779444	C	G	C156779444G	SHH	NM_022458.4(LMBR1):c.424-15649G>C	noncoding	Benign
7	156779581	C	T	C156779581T	SHH	NM_022458.4(LMBR1):c.424-15786G>A	noncoding	Benign
7	156779610	T	C	T156779610C	SHH	NM_022458.4(LMBR1):c.424-15815A>G	noncoding	Benign
7	156779628	A	G	A156779628G	SHH	NM_022458.4(LMBR1):c.424-15833T>C	noncoding	Benign
7	156789346	C	T	C156789346T	SHH	NM_022458.4(LMBR1):c.423+7043G>A	noncoding	Benign
7	156789527	T	G	T156789527G	SHH	NM_022458.4(LMBR1):c.423+6862A>C	noncoding	Benign
7	156789579	T	C	T156789579C	SHH	NM_022458.4(LMBR1):c.423+6810A>G	noncoding	Benign
7	156791470	T	C	T156791470C	LMBR1	NM_022458.4(LMBR1):c.423+4919A>G	noncoding	Pathogenic
7	156792210	C	T	C156792210T	LMBR1	NM_022458.4(LMBR1):c.423+4179G>A	noncoding	Benign
7	156792443	A	G	A156792443G	LMBR1	NM_022458.4(LMBR1):c.423+3946T>C	noncoding	Benign
7	156792490	C	G	C156792490G	LMBR1	NM_022458.4(LMBR1):c.423+3899G>C	noncoding	Benign
7	156796272	T	C	T156796272C	SHH	NM_022458.4(LMBR1):c.423+117A>G	noncoding	Benign
7	156796278	C	T	C156796278T	SHH	NM_022458.4(LMBR1):c.423+111G>A	noncoding	Benign
7	156796793	G	A	G156796793A	LMBR1	NM_022458.4(LMBR1):c.320-301C>T	noncoding	Benign
7	156826345	G	C	G156826345C	LMBR1	NM_022458.4(LMBR1):c.319+260C>G	noncoding	Benign
7	156826381	A	G	A156826381G	LMBR1	NM_022458.4(LMBR1):c.319+224T>C	noncoding	Benign
7	156826821	C	T	C156826821T	LMBR1	NM_022458.4(LMBR1):c.180-77G>A	noncoding	Benign
7	156826959	G	A	G156826959A	LMBR1	NM_022458.4(LMBR1):c.180-215C>T	noncoding	Benign
7	156833710	C	T	C156833710T	LMBR1	NM_022458.4(LMBR1):c.179+43G>A	noncoding	Benign
7	156833983	G	C	G156833983C	LMBR1	NM_022458.4(LMBR1):c.140-191C>G	noncoding	Benign
7	156834001	T	C	T156834001C	LMBR1	NM_022458.4(LMBR1):c.140-209A>G	noncoding	Benign
7	156836541	G	A	G156836541A	LMBR1	NM_022458.4(LMBR1):c.139+272C>T	noncoding	Benign
7	156892701	G	C	G156892701C	LMBR1	NM_022458.4(LMBR1):c.66+227C>G	noncoding	Benign
7	156892705	G	A	G156892705A	LMBR1	NM_022458.4(LMBR1):c.66+223C>T	noncoding	Benign
7	156892719	C	G	C156892719G	LMBR1	NM_022458.4(LMBR1):c.66+209G>C	noncoding	Benign
7	156892851	A	C	A156892851C	LMBR1	NM_022458.4(LMBR1):c.66+77T>G	noncoding	Benign
7	156892896	G	A	G156892896A	LMBR1	NM_022458.4(LMBR1):c.66+32C>T	noncoding	Benign
7	156892898	A	G	A156892898G	LMBR1	NM_022458.4(LMBR1):c.66+30T>C	noncoding	Benign
7	156893407	C	T	C156893407T	LMBR1	Single_allele	noncoding	Benign
7	157005288	C	T	C157005288T	MNX1	NM_005515.4(MNX1):c.*232G>A	noncoding	Benign
7	157005852	G	A	G157005852A	MNX1	NM_005515.4(MNX1):c.874C>T:p.Arg292Trp	coding	Pathogenic
7	157005863	C	T	C157005863T	MNX1	NM_005515.4(MNX1):c.863G>A:p.Trp288Ter	coding	Pathogenic
7	157006010	A	G	A157006010G	MNX1	NM_005515.4(MNX1):c.853-137T>C	noncoding	Benign
7	157006202	G	T	G157006202T	MNX1	NM_005515.4(MNX1):c.852+277C>A	noncoding	Benign
7	157006387	T	C	T157006387C	MNX1	NM_005515.4(MNX1):c.852+92A>G	noncoding	Benign
7	157008772	T	A	T157008772A	MNX1	NM_005515.4(MNX1):c.691+888A>T	noncoding	Benign
7	157008967	C	G	C157008967G	MNX1	NM_005515.4(MNX1):c.691+693G>C	noncoding	Benign
7	157009006	G	T	G157009006T	MNX1	NM_005515.4(MNX1):c.691+654C>A	coding	Benign
7	157009230	G	A	G157009230A	MNX1	NM_005515.4(MNX1):c.691+430C>T	coding	Benign
7	157009650	G	C	G157009650C	MNX1	NM_005515.4(MNX1):c.691+10C>G	noncoding	Benign
7	157009789	G	A	G157009789A	MNX1	NM_005515.4(MNX1):c.562C>T:p.Gln188Ter	coding	Pathogenic
7	157009994	C	A	C157009994A	MNX1	NM_005515.4(MNX1):c.357G>T:p.Pro119=	coding	Benign
7	157010117	C	T	C157010117T	MNX1	NM_005515.4(MNX1):c.234G>A:p.Pro78=	coding	Benign
7	157010225	T	C	T157010225C	MNX1	NM_005515.4(MNX1):c.126A>G:p.Gly42=	coding	Benign
7	157010635	G	C	G157010635C	MNX1	NM_005515.4(MNX1):c.-285C>G	noncoding	Benign
7	157010643	G	C	G157010643C	MNX1	NM_005515.4(MNX1):c.-293C>G	noncoding	Benign
7	157010742	C	T	C157010742T	MNX1	Single_allele	noncoding	Benign
7	157358682	A	G	A157358682G	DNAJB6	NM_058246.4(DNAJB6):c.65+45A>G	noncoding	Benign
7	157363422	T	C	T157363422C	DNAJB6	NM_058246.4(DNAJB6):c.175+152T>C	noncoding	Benign
7	157367349	A	G	A157367349G	DNAJB6	NM_058246.4(DNAJB6):c.236-24A>G	noncoding	Benign
7	157385026	A	G	A157385026G	DNAJB6	NM_058246.4(DNAJB6):c.620+18A>G	noncoding	Benign
7	157385820	T	G	T157385820G	DNAJB6	NM_058246.4(DNAJB6):c.691+209T>G	coding	Benign
7	157409658	A	G	A157409658G	DNAJB6	NM_058246.4(DNAJB6):c.692-137A>G	noncoding	Benign
7	157409782	G	T	G157409782T	DNAJB6	NM_058246.4(DNAJB6):c.692-13G>T	noncoding	Benign/Likely_benign
7	157417020	C	T	C157417020T	DNAJB6	NM_058246.4(DNAJB6):c.*922C>T	noncoding	Benign
7	158652283	T	G	T158652283G	NCAPG2	NM_017760.7(NCAPG2):c.2934+10A>C	noncoding	Benign
7	158664766	A	G	A158664766G	NCAPG2	NM_017760.7(NCAPG2):c.1480-16T>C	noncoding	Benign
7	158675663	G	A	G158675663A	NCAPG2	NM_017760.7(NCAPG2):c.1147-7C>T	noncoding	Benign/Likely_benign
7	158856372	T	G	T158856372G	DYNC2I1	NM_001350914.2(DYNC2I1):c.-123-13483T>G	noncoding	Benign
7	158856569	C	T	C158856569T	DYNC2I1	NM_018051.5(DYNC2I1):c.-167C>T	noncoding	Benign
7	158856589	T	C	T158856589C	DYNC2I1	NM_018051.5(DYNC2I1):c.-147T>C	noncoding	Benign
7	158856606	C	T	C158856606T	DYNC2I1	NM_018051.5(DYNC2I1):c.-130C>T	noncoding	Benign
7	158856613	T	C	T158856613C	DYNC2I1	NM_018051.5(DYNC2I1):c.-123T>C	noncoding	Benign
7	158856643	C	T	C158856643T	DYNC2I1	NM_018051.5(DYNC2I1):c.-93C>T	noncoding	Benign
7	158856682	A	G	A158856682G	DYNC2I1	NM_018051.5(DYNC2I1):c.-54A>G	noncoding	Benign
7	158870007	T	C	T158870007C	DYNC2I1	NM_018051.5(DYNC2I1):c.69+99T>C	noncoding	Benign
7	158879792	C	T	C158879792T	DYNC2I1	NM_018051.5(DYNC2I1):c.682C>T:p.Arg228Ter	coding	Pathogenic
7	158891134	T	C	T158891134C	DYNC2I1	NM_018051.5(DYNC2I1):c.991-131T>C	noncoding	Benign
7	158891461	A	G	A158891461G	DYNC2I1	NM_018051.5(DYNC2I1):c.1059+128A>G	noncoding	Benign
7	158901839	T	C	T158901839C	DYNC2I1	NM_018051.5(DYNC2I1):c.1137+23T>C	noncoding	Benign
7	158911363	G	A	G158911363A	DYNC2I1	NM_018051.5(DYNC2I1):c.1461-187G>A	noncoding	Benign
7	158911536	A	C	A158911536C	DYNC2I1	NM_018051.5(DYNC2I1):c.1461-14A>C	noncoding	Benign
7	158914340	T	C	T158914340C	DYNC2I1	NM_018051.5(DYNC2I1):c.1791+19T>C	noncoding	Benign
7	158914380	A	G	A158914380G	DYNC2I1	NM_018051.5(DYNC2I1):c.1791+59A>G	noncoding	Benign
7	158918604	T	C	T158918604C	DYNC2I1	NM_018051.5(DYNC2I1):c.1792-136T>C	noncoding	Benign
7	158918733	C	A	C158918733A	DYNC2I1	NM_018051.5(DYNC2I1):c.1792-7C>A	noncoding	Benign
7	158918893	A	G	A158918893G	DYNC2I1	NM_018051.5(DYNC2I1):c.1921+24A>G	noncoding	Benign
7	158922361	T	C	T158922361C	DYNC2I1	NM_018051.5(DYNC2I1):c.1922-16T>C	noncoding	Benign
7	158922379	C	T	C158922379T	DYNC2I1	NM_018051.5(DYNC2I1):c.1924C>T:p.Arg642Ter	coding	Pathogenic
7	158922571	G	C	G158922571C	DYNC2I1	NM_018051.5(DYNC2I1):c.2094+22G>C	noncoding	Benign
7	158922573	A	G	A158922573G	DYNC2I1	NM_018051.5(DYNC2I1):c.2094+24A>G	noncoding	Benign
7	158926102	A	G	A158926102G	DYNC2I1	NM_018051.5(DYNC2I1):c.2258-85A>G	noncoding	Benign
7	158926114	T	C	T158926114C	DYNC2I1	NM_018051.5(DYNC2I1):c.2258-73T>C	noncoding	Benign
7	158926562	G	A	G158926562A	DYNC2I1	NM_018051.5(DYNC2I1):c.2433+99G>A	noncoding	Benign
7	158930323	T	C	T158930323C	DYNC2I1	NM_018051.5(DYNC2I1):c.2486-132T>C	noncoding	Benign
7	158930713	G	A	G158930713A	DYNC2I1	NM_018051.5(DYNC2I1):c.2546+198G>A	noncoding	Benign
7	158933964	G	A	G158933964A	DYNC2I1	NM_018051.5(DYNC2I1):c.2547-165G>A	noncoding	Benign
7	158934585	T	A	T158934585A	DYNC2I1	NM_018051.5(DYNC2I1):c.2778+36T>A	noncoding	Benign
7	158934813	T	C	T158934813C	DYNC2I1	NM_018051.5(DYNC2I1):c.2778+264T>C	noncoding	Benign
7	158942131	G	A	G158942131A	DYNC2I1	NM_018051.5(DYNC2I1):c.2985G>A:p.Gln995=	coding	Benign
7	158945623	T	C	T158945623C	DYNC2I1	NM_018051.5(DYNC2I1):c.3045T>C:p.Gly1015=	coding	Benign
7	158945920	G	T	G158945920T	DYNC2I1	NM_018051.5(DYNC2I1):c.*141G>T	noncoding	Benign
7	158945943	G	C	G158945943C	DYNC2I1	NM_018051.5(DYNC2I1):c.*164G>C	noncoding	Benign
8	1548964	G	A	G1548964A	DLGAP2	NM_001346810.2(DLGAP2):c.511G>A:p.Asp171Asn	coding	Benign
8	1565843	C	A	C1565843A	DLGAP2	NM_001346810.2(DLGAP2):c.1391C>A:p.Pro464Gln	coding	Benign
8	1633060	A	G	A1633060G	DLGAP2	NM_001346810.2(DLGAP2):c.1810+14A>G	noncoding	Benign
8	1668552	A	G	A1668552G	DLGAP2	NM_001346810.2(DLGAP2):c.2034A>G:p.Glu678=	coding	Benign
8	1668697	C	G	C1668697G	DLGAP2	NM_001346810.2(DLGAP2):c.2160+19C>G	noncoding	Benign
8	1763998	G	A	G1763998A	CLN8	NM_018941.4(CLN8):c.-124+113G>A	noncoding	Benign
8	1770707	G	C	G1770707C	CLN8	NM_018941.4(CLN8):c.-123-225G>C	noncoding	Benign
8	1770805	C	T	C1770805T	CLN8	NM_018941.4(CLN8):c.-123-127C>T	noncoding	Benign
8	1770947	G	A	G1770947A	CLN8	NM_018941.4(CLN8):c.-108G>A	noncoding	Benign
8	1771083	C	G	C1771083G	CLN8	NM_018941.4(CLN8):c.29C>G:p.Ser10Ter	coding	Pathogenic
8	1771159	C	G	C1771159G	CLN8	NM_018941.4(CLN8):c.105C>G:p.Tyr35Ter	coding	Pathogenic
8	1771165	C	T	C1771165T	CLN8	NM_018941.4(CLN8):c.111C>T:p.Gly37=	coding	Benign/Likely_benign
8	1771180	C	A	C1771180A	CLN8	NM_018941.4(CLN8):c.126C>A:p.Cys42Ter	coding	Pathogenic
8	1771184	C	T	C1771184T	CLN8	NM_018941.4(CLN8):c.130C>T:p.Gln44Ter	coding	Pathogenic
8	1771337	A	T	A1771337T	CLN8	NM_018941.4(CLN8):c.283A>T:p.Lys95Ter	coding	Pathogenic/Likely_pathogenic
8	1771366	G	A	G1771366A	CLN8	NM_018941.4(CLN8):c.312G>A:p.Trp104Ter	coding	Pathogenic/Likely_pathogenic
8	1771452	T	A	T1771452A	CLN8	NM_018941.4(CLN8):c.398T>A:p.Leu133Ter	coding	Pathogenic/Likely_pathogenic
8	1771593	T	A	T1771593A	CLN8	NM_018941.4(CLN8):c.539T>A:p.Leu180Ter	coding	Pathogenic
8	1771598	G	A	G1771598A	CLN8	NM_018941.4(CLN8):c.543+1G>A	coding	Pathogenic
8	1780023	A	G	A1780023G	CLN8	NM_018941.4(CLN8):c.544-227A>G	noncoding	Benign
8	1780341	G	A	G1780341A	CLN8	NM_018941.4(CLN8):c.635G>A:p.Trp212Ter	coding	Pathogenic
8	1780345	G	T	G1780345T	CLN8	NM_018941.4(CLN8):c.639G>T:p.Trp213Cys	coding	Benign
8	1843267	C	T	C1843267T	ARHGEF10	NM_014629.4(ARHGEF10):c.-47-86C>T	noncoding	Benign
8	1843472	T	G	T1843472G	ARHGEF10	NM_014629.4(ARHGEF10):c.37+36T>G	noncoding	Benign
8	1843496	C	T	C1843496T	ARHGEF10	NM_014629.4(ARHGEF10):c.37+60C>T	noncoding	Benign
8	1843497	G	A	G1843497A	ARHGEF10	NM_014629.4(ARHGEF10):c.37+61G>A	noncoding	Benign
8	1843506	C	T	C1843506T	ARHGEF10	NM_014629.4(ARHGEF10):c.37+70C>T	noncoding	Benign
8	1843519	A	G	A1843519G	ARHGEF10	NM_014629.4(ARHGEF10):c.37+83A>G	noncoding	Benign
8	1857814	T	C	T1857814C	ARHGEF10	NM_014629.4(ARHGEF10):c.38-146T>C	noncoding	Benign
8	1858102	C	T	C1858102T	ARHGEF10	NM_014629.4(ARHGEF10):c.180C>T:p.Ala60=	coding	Benign
8	1858167	A	G	A1858167G	ARHGEF10	NM_014629.4(ARHGEF10):c.193+52A>G	noncoding	Benign
8	1858168	G	A	G1858168A	ARHGEF10	NM_014629.4(ARHGEF10):c.193+53G>A	noncoding	Benign
8	1858187	T	G	T1858187G	ARHGEF10	NM_014629.4(ARHGEF10):c.193+72T>G	noncoding	Benign
8	1858206	T	C	T1858206C	ARHGEF10	NM_014629.4(ARHGEF10):c.193+91T>C	noncoding	Benign
8	1858215	A	G	A1858215G	ARHGEF10	NM_014629.4(ARHGEF10):c.193+100A>G	noncoding	Benign
8	1858293	A	G	A1858293G	ARHGEF10	NM_014629.4(ARHGEF10):c.193+178A>G	noncoding	Benign
8	1859689	A	G	A1859689G	ARHGEF10	NM_014629.4(ARHGEF10):c.194-208A>G	noncoding	Benign
8	1859698	A	G	A1859698G	ARHGEF10	NM_014629.4(ARHGEF10):c.194-199A>G	noncoding	Benign
8	1859885	C	T	C1859885T	ARHGEF10	NM_014629.4(ARHGEF10):c.194-12C>T	noncoding	Benign
8	1860136	G	A	G1860136A	ARHGEF10	NM_014629.4(ARHGEF10):c.433G>A:p.Ala145Thr	coding	Benign
8	1864166	C	G	C1864166G	ARHGEF10	NM_014629.4(ARHGEF10):c.482-207C>G	noncoding	Benign
8	1864367	C	G	C1864367G	ARHGEF10	NM_014629.4(ARHGEF10):c.482-6C>G	noncoding	Benign
8	1866571	C	T	C1866571T	ARHGEF10	NM_014629.4(ARHGEF10):c.591C>T:p.Ala197=	coding	Benign
8	1869120	G	T	G1869120T	ARHGEF10	NM_014629.4(ARHGEF10):c.623-74G>T	noncoding	Benign
8	1869148	G	C	G1869148C	ARHGEF10	NM_014629.4(ARHGEF10):c.623-46G>C	noncoding	Benign
8	1869372	T	C	T1869372C	ARHGEF10	NM_014629.4(ARHGEF10):c.679+122T>C	noncoding	Benign
8	1876387	G	C	G1876387C	ARHGEF10	NM_014629.4(ARHGEF10):c.680-184G>C	noncoding	Benign
8	1876423	C	G	C1876423G	ARHGEF10	NM_014629.4(ARHGEF10):c.680-148C>G	noncoding	Benign
8	1876430	G	C	G1876430C	ARHGEF10	NM_014629.4(ARHGEF10):c.680-141G>C	noncoding	Benign
8	1876626	G	C	G1876626C	ARHGEF10	NM_014629.4(ARHGEF10):c.735G>C:p.Leu245Phe	coding	Benign
8	1876715	G	A	G1876715A	ARHGEF10	NM_014629.4(ARHGEF10):c.824G>A:p.Arg275His	coding	Benign
8	1876749	C	T	C1876749T	ARHGEF10	NM_014629.4(ARHGEF10):c.843+15C>T	noncoding	Benign
8	1876753	T	C	T1876753C	ARHGEF10	NM_014629.4(ARHGEF10):c.843+19T>C	noncoding	Benign
8	1880012	C	G	C1880012G	ARHGEF10	NM_014629.4(ARHGEF10):c.844-36C>G	noncoding	Benign
8	1880284	T	C	T1880284C	ARHGEF10	NM_014629.4(ARHGEF10):c.960+120T>C	noncoding	Benign
8	1882628	G	A	G1882628A	ARHGEF10	NM_014629.4(ARHGEF10):c.961-7G>A	noncoding	Benign
8	1885665	A	G	A1885665G	ARHGEF10	NM_014629.4(ARHGEF10):c.1140A>G:p.Glu380=	coding	Benign
8	1885824	C	T	C1885824T	ARHGEF10	NM_014629.4(ARHGEF10):c.1182+117C>T	noncoding	Benign
8	1894694	A	G	A1894694G	ARHGEF10	NM_014629.4(ARHGEF10):c.1440+122A>G	noncoding	Benign
8	1896535	G	A	G1896535A	ARHGEF10	NM_014629.4(ARHGEF10):c.1557+86G>A	noncoding	Benign
8	1898379	C	A	C1898379A	ARHGEF10	NM_014629.4(ARHGEF10):c.1558-54C>A	noncoding	Benign
8	1898396	C	T	C1898396T	ARHGEF10	NM_014629.4(ARHGEF10):c.1558-37C>T	noncoding	Benign
8	1898465	G	T	G1898465T	ARHGEF10	NM_014629.4(ARHGEF10):c.1590G>T:p.Thr530=	coding	Benign
8	1898522	C	T	C1898522T	ARHGEF10	NM_014629.4(ARHGEF10):c.1647C>T:p.Leu549=	coding	Benign
8	1898592	C	T	C1898592T	ARHGEF10	NM_014629.4(ARHGEF10):c.1650+67C>T	noncoding	Benign
8	1903216	C	T	C1903216T	ARHGEF10	NM_014629.4(ARHGEF10):c.1651-65C>T	noncoding	Benign
8	1903605	G	T	G1903605T	ARHGEF10	NM_014629.4(ARHGEF10):c.1821+154G>T	noncoding	Benign
8	1909127	A	G	A1909127G	ARHGEF10	NM_014629.4(ARHGEF10):c.1968-168A>G	noncoding	Benign
8	1909200	G	A	G1909200A	ARHGEF10	NM_014629.4(ARHGEF10):c.1968-95G>A	noncoding	Benign
8	1909201	T	C	T1909201C	ARHGEF10	NM_014629.4(ARHGEF10):c.1968-94T>C	noncoding	Benign
8	1909382	T	C	T1909382C	ARHGEF10	NM_014629.4(ARHGEF10):c.2055T>C:p.Tyr685=	coding	Benign
8	1909463	G	A	G1909463A	ARHGEF10	NM_014629.4(ARHGEF10):c.2136G>A:p.Ala712=	coding	Benign
8	1909535	T	C	T1909535C	ARHGEF10	NM_014629.4(ARHGEF10):c.2143+65T>C	noncoding	Benign
8	1922790	G	A	G1922790A	ARHGEF10	NM_014629.4(ARHGEF10):c.2144-174G>A	noncoding	Benign
8	1922826	T	C	T1922826C	ARHGEF10	NM_014629.4(ARHGEF10):c.2144-138T>C	noncoding	Benign
8	1922948	T	G	T1922948G	ARHGEF10	NM_014629.4(ARHGEF10):c.2144-16T>G	noncoding	Benign
8	1923730	G	C	G1923730C	ARHGEF10	NM_014629.4(ARHGEF10):c.2388-44G>C	noncoding	Benign
8	1923789	G	A	G1923789A	ARHGEF10	NM_014629.4(ARHGEF10):c.2403G>A:p.Thr801=	coding	Benign
8	1924032	C	T	C1924032T	ARHGEF10	NM_014629.4(ARHGEF10):c.2488+158C>T	noncoding	Benign
8	1925374	C	T	C1925374T	ARHGEF10	NM_014629.4(ARHGEF10):c.2580C>T:p.Pro860=	coding	Benign
8	1925552	T	C	T1925552C	ARHGEF10	NM_014629.4(ARHGEF10):c.2610+148T>C	noncoding	Benign
8	1926482	G	A	G1926482A	ARHGEF10	NM_014629.4(ARHGEF10):c.2697+19G>A	noncoding	Benign
8	1926566	C	T	C1926566T	ARHGEF10	NM_014629.4(ARHGEF10):c.2697+103C>T	noncoding	Benign
8	1928465	C	T	C1928465T	ARHGEF10	NM_014629.4(ARHGEF10):c.2736C>T:p.Ile912=	coding	Benign
8	1928541	G	A	G1928541A	ARHGEF10	NM_014629.4(ARHGEF10):c.2812G>A:p.Val938Ile	coding	Benign/Likely_benign
8	1928669	G	A	G1928669A	ARHGEF10	NM_014629.4(ARHGEF10):c.2921+19G>A	noncoding	Benign
8	1929314	T	G	T1929314G	ARHGEF10	NM_014629.4(ARHGEF10):c.2950T>G:p.Ser984Ala	coding	Benign
8	1929439	C	T	C1929439T	ARHGEF10	NM_014629.4(ARHGEF10):c.3075C>T:p.Ala1025=	coding	Benign
8	1945344	C	T	C1945344T	ARHGEF10	NM_014629.4(ARHGEF10):c.3223-137C>T	noncoding	Benign
8	1945537	C	T	C1945537T	ARHGEF10	NM_014629.4(ARHGEF10):c.3279C>T:p.Ser1093=	coding	Benign
8	1945663	G	T	G1945663T	ARHGEF10	NM_014629.4(ARHGEF10):c.3397+8G>T	noncoding	Benign
8	1952691	G	A	G1952691A	ARHGEF10	NM_014629.4(ARHGEF10):c.3398-14G>A	noncoding	Benign
8	1952721	G	A	G1952721A	ARHGEF10	NM_014629.4(ARHGEF10):c.3414G>A:p.Ser1138=	coding	Benign
8	1952745	C	T	C1952745T	ARHGEF10	NM_014629.4(ARHGEF10):c.3438C>T:p.His1146=	coding	Benign
8	1952944	G	C	G1952944C	ARHGEF10	NM_014629.4(ARHGEF10):c.3520+117G>C	noncoding	Benign
8	1953011	A	G	A1953011G	ARHGEF10	NM_014629.4(ARHGEF10):c.3520+184A>G	noncoding	Benign
8	1956661	C	T	C1956661T	ARHGEF10	NM_014629.4(ARHGEF10):c.3521-88C>T	noncoding	Benign
8	1956882	C	A	C1956882A	ARHGEF10	NM_014629.4(ARHGEF10):c.3654C>A:p.Asp1218Glu	coding	Benign
8	1956966	G	A	G1956966A	ARHGEF10	NM_014629.4(ARHGEF10):c.3738G>A:p.Ser1246=	coding	Benign
8	1957188	G	C	G1957188C	ARHGEF10	NM_014629.4(ARHGEF10):c.3960G>C:p.Arg1320Ser	coding	Benign
8	2057506	G	A	G2057506A	MYOM2	NM_003970.4(MYOM2):c.402+20G>A	noncoding	Benign
8	2101041	G	A	G2101041A	MYOM2	NM_003970.4(MYOM2):c.2606G>A:p.Ser869Asn	coding	Benign
8	2938755	C	T	C2938755T	CSMD1	NM_033225.6(CSMD1):c.10536-11G>A	noncoding	Benign
8	2974446	C	T	C2974446T	CSMD1;LOC105377785	NM_033225.6(CSMD1):c.8740+5G>A	noncoding	Benign
8	3367039	T	C	T3367039C	CSMD1	NM_033225.6(CSMD1):c.3108A>G:p.Thr1036=	coding	Benign
8	3396246	C	T	C3396246T	CSMD1	NM_033225.6(CSMD1):c.2541G>A:p.Leu847=	coding	Benign
8	6406286	T	C	T6406286C	MCPH1	NR_040040.1(MCPH1-DT):n.263A>G	noncoding	Benign
8	6406295	G	C	G6406295C	MCPH1	NR_040040.1(MCPH1-DT):n.254C>G	noncoding	Benign
8	6406391	A	T	A6406391T	MCPH1	NR_040040.1(MCPH1-DT):n.158T>A	noncoding	Benign
8	6406418	C	T	C6406418T	MCPH1	NR_040040.1(MCPH1-DT):n.131G>A	noncoding	Benign
8	6406426	C	G	C6406426G	MCPH1	NR_040040.1(MCPH1-DT):n.123G>C	noncoding	Benign
8	6406432	G	C	G6406432C	MCPH1	NR_040040.1(MCPH1-DT):n.117C>G	noncoding	Benign
8	6406552	G	T	G6406552T	MCPH1	Single_allele	noncoding	Benign
8	6409253	G	A	G6409253A	MCPH1	NM_024596.5(MCPH1):c.23-26G>A	noncoding	Benign
8	6409267	T	C	T6409267C	MCPH1	NM_024596.5(MCPH1):c.23-12T>C	noncoding	Benign
8	6409436	A	G	A6409436G	MCPH1	NM_024596.5(MCPH1):c.114+66A>G	noncoding	Benign
8	6414617	T	C	T6414617C	MCPH1	NM_024596.5(MCPH1):c.115-148T>C	noncoding	Benign
8	6414818	C	G	C6414818G	MCPH1	NM_024596.5(MCPH1):c.168C>G:p.Tyr56Ter	coding	Pathogenic
8	6414936	T	G	T6414936G	MCPH1	NM_024596.5(MCPH1):c.233+53T>G	noncoding	Benign
8	6431749	A	G	A6431749G	MCPH1	NM_024596.5(MCPH1):c.321+163A>G	noncoding	Benign
8	6435816	T	C	T6435816C	MCPH1	NM_024596.5(MCPH1):c.322-232T>C	noncoding	Benign
8	6436267	A	G	A6436267G	MCPH1	NM_024596.5(MCPH1):c.436+105A>G	noncoding	Benign
8	6436345	C	T	C6436345T	MCPH1	NM_024596.5(MCPH1):c.436+183C>T	noncoding	Benign
8	6436488	A	G	A6436488G	MCPH1	NM_024596.5(MCPH1):c.436+326A>G	noncoding	Benign
8	6438824	G	A	G6438824A	MCPH1	NM_024596.5(MCPH1):c.437-129G>A	noncoding	Benign
8	6438960	T	G	T6438960G	MCPH1	NM_024596.5(MCPH1):c.444T>G:p.Asp148Glu	coding	Benign
8	6439029	G	T	G6439029T	MCPH1	NM_024596.5(MCPH1):c.513G>T:p.Arg171Ser	coding	Benign
8	6444393	A	G	A6444393G	MCPH1	NM_024596.5(MCPH1):c.671A>G:p.Asp224Gly	coding	Benign/Likely_benign
8	6444762	C	A	C6444762A	MCPH1	NM_024596.5(MCPH1):c.1040C>A:p.Ser347Ter	coding	Pathogenic
8	6444826	G	A	G6444826A	MCPH1	NM_024596.5(MCPH1):c.1104G>A:p.Lys368=	coding	Benign
8	6445073	G	A	G6445073A	MCPH1	NM_024596.5(MCPH1):c.1351G>A:p.Glu451Lys	coding	Benign/Likely_benign
8	6445434	C	G	C6445434G	MCPH1	NM_024596.5(MCPH1):c.1712C>G:p.Ser571Ter	coding	Pathogenic
8	6477551	T	G	T6477551G	MCPH1	NM_024596.5(MCPH1):c.1936-43T>G	noncoding	Benign
8	6477687	T	C	T6477687C	MCPH1	NM_024596.5(MCPH1):c.1973+56T>C	noncoding	Benign
8	6477857	G	C	G6477857C	MCPH1	NM_024596.5(MCPH1):c.1973+226G>C	noncoding	Benign
8	6477932	C	G	C6477932G	MCPH1	NM_024596.5(MCPH1):c.1973+301C>G	noncoding	Benign
8	6480417	C	G	C6480417G	MCPH1	NM_024596.5(MCPH1):c.1974-297C>G	noncoding	Benign
8	6480478	A	G	A6480478G	MCPH1	NM_024596.5(MCPH1):c.1974-236A>G	noncoding	Benign
8	6481143	T	G	T6481143G	MCPH1	NM_024596.5(MCPH1):c.2136+267T>G	noncoding	Benign
8	6481174	T	C	T6481174C	MCPH1	NM_024596.5(MCPH1):c.2136+298T>C	noncoding	Benign
8	6499572	C	T	C6499572T	MCPH1	NM_024596.5(MCPH1):c.2137-280C>T	noncoding	Benign
8	6499670	T	C	T6499670C	MCPH1	NM_024596.5(MCPH1):c.2137-182T>C	coding	Benign
8	6499714	A	T	A6499714T	MCPH1	NM_024596.5(MCPH1):c.2137-138A>T	coding	Benign
8	6499786	T	C	T6499786C	MCPH1	NM_024596.5(MCPH1):c.2137-66T>C	coding	Benign
8	6500090	C	T	C6500090T	MCPH1	NM_024596.5(MCPH1):c.2214+161C>T	coding	Benign
8	6500118	T	C	T6500118C	MCPH1	NM_024596.5(MCPH1):c.2214+189T>C	coding	Benign
8	6508958	C	G	C6508958G	ANGPT2	NM_001118887.2(ANGPT2):c.1301G>C:p.Cys434Ser	coding	Pathogenic
8	6519898	G	A	G6519898A	ANGPT2	NM_001118887.2(ANGPT2):c.893C>T:p.Thr298Met	coding	Pathogenic
8	6532368	C	G	C6532368G	ANGPT2;MCPH1	NM_024596.5(MCPH1):c.2214+32439C>G	coding	Benign/Likely_benign
8	6621205	C	A	C6621205A	MCPH1	NM_024596.5(MCPH1):c.2215-249C>A	noncoding	Benign
8	6621460	C	T	C6621460T	MCPH1	NM_024596.5(MCPH1):c.2221C>T:p.Arg741Ter	coding	Pathogenic
8	6621839	C	G	C6621839G	MCPH1	NM_024596.5(MCPH1):c.2452+148C>G	noncoding	Benign
8	6625185	A	G	A6625185G	MCPH1	NM_024596.5(MCPH1):c.2452+3494A>G	noncoding	Benign
8	6642723	C	T	C6642723T	MCPH1	NM_024596.5(MCPH1):c.2453-271C>T	noncoding	Benign
8	6642864	G	A	G6642864A	MCPH1	NM_024596.5(MCPH1):c.2453-130G>A	noncoding	Benign
8	10607568	A	C	A10607568C	RP1L1	NM_178857.6(RP1L1):c.6530T>G:p.Leu2177Ter	coding	Pathogenic
8	10608887	C	T	C10608887T	RP1L1	NM_178857.6(RP1L1):c.5211G>A:p.Gly1737=	coding	Benign/Likely_benign
8	10609247	C	G	C10609247G	RP1L1	NM_178857.6(RP1L1):c.4851G>C:p.Ser1617=	coding	Benign/Likely_benign
8	10610507	G	A	G10610507A	RP1L1	NM_178857.6(RP1L1):c.3591C>T:p.Ser1197=	coding	Benign/Likely_benign
8	10610973	A	T	A10610973T	RP1L1	NM_178857.6(RP1L1):c.3125T>A:p.Val1042Asp	coding	Benign/Likely_benign
8	10611634	G	A	G10611634A	RP1L1	NM_178857.6(RP1L1):c.2464C>T:p.Arg822Ter	coding	Pathogenic
8	10611991	G	A	G10611991A	RP1L1	NM_178857.6(RP1L1):c.2107C>T:p.Arg703Ter	coding	Pathogenic
8	10612396	C	G	C10612396G	RP1L1	NM_178857.6(RP1L1):c.1702G>C:p.Ala568Pro	coding	Benign/Likely_benign
8	10612589	G	A	G10612589A	RP1L1	NM_178857.6(RP1L1):c.1509C>T:p.Pro503=	coding	Benign/Likely_benign
8	10612781	G	T	G10612781T	RP1L1	NM_178857.6(RP1L1):c.1317C>A:p.Gly439=	coding	Benign/Likely_benign
8	10616604	C	T	C10616604T	RP1L1	NM_178857.6(RP1L1):c.610-17G>A	noncoding	Benign
8	10616607	G	A	G10616607A	RP1L1	NM_178857.6(RP1L1):c.610-20C>T	noncoding	Benign
8	10622768	C	T	C10622768T	RP1L1	NM_178857.6(RP1L1):c.434G>A:p.Arg145Gln	coding	Benign
8	10622799	G	A	G10622799A	RP1L1	NM_178857.6(RP1L1):c.403C>T:p.Gln135Ter	coding	Pathogenic
8	10622865	G	A	G10622865A	RP1L1	NM_178857.6(RP1L1):c.337C>T:p.Pro113Ser	coding	Benign/Likely_benign
8	10623033	C	T	C10623033T	RP1L1	NM_178857.6(RP1L1):c.169G>A:p.Ala57Thr	coding	Benign
8	11304987	A	C	A11304987C	MTMR9	NM_015458.4(MTMR9):c.564A>C:p.Leu188=	coding	Benign
8	11542946	T	G	T11542946G	BLK	NM_001715.3(BLK):c.-1-278T>G	noncoding	Benign
8	11542970	C	A	C11542970A	BLK	NM_001715.3(BLK):c.-1-254C>A	noncoding	Benign
8	11543119	C	G	C11543119G	BLK	NM_001715.3(BLK):c.-1-105C>G	noncoding	Benign
8	11543141	G	A	G11543141A	BLK	NM_001715.3(BLK):c.-1-83G>A	noncoding	Benign
8	11543171	G	A	G11543171A	BLK	NM_001715.3(BLK):c.-1-53G>A	noncoding	Benign
8	11543435	G	T	G11543435T	BLK	NM_001715.3(BLK):c.123+88G>T	noncoding	Benign
8	11543602	G	A	G11543602A	BLK	NM_001715.3(BLK):c.123+255G>A	noncoding	Benign
8	11543607	G	A	G11543607A	BLK	NM_001715.3(BLK):c.123+260G>A	noncoding	Benign
8	11545859	G	A	G11545859A	BLK	NM_001715.3(BLK):c.124-193G>A	noncoding	Benign
8	11546260	C	G	C11546260G	BLK	NM_001715.3(BLK):c.175+157C>G	noncoding	Benign
8	11547740	G	A	G11547740A	BLK	NM_001715.3(BLK):c.176-292G>A	noncoding	Benign
8	11547827	C	T	C11547827T	BLK	NM_001715.3(BLK):c.176-205C>T	noncoding	Benign
8	11547832	C	A	C11547832A	BLK	NM_001715.3(BLK):c.176-200C>A	noncoding	Benign
8	11547865	T	G	T11547865G	BLK	NM_001715.3(BLK):c.176-167T>G	noncoding	Benign
8	11547928	G	A	G11547928A	BLK	NM_001715.3(BLK):c.176-104G>A	noncoding	Benign
8	11548067	G	A	G11548067A	BLK	NM_001715.3(BLK):c.211G>A:p.Ala71Thr	coding	Benign/Likely_benign
8	11548138	G	C	G11548138C	BLK	NM_001715.3(BLK):c.269+13G>C	noncoding	Benign
8	11548343	C	A	C11548343A	BLK	NM_001715.3(BLK):c.269+218C>A	noncoding	Benign
8	11548733	C	A	C11548733A	BLK	NM_001715.3(BLK):c.270-291C>A	noncoding	Benign
8	11548848	G	A	G11548848A	BLK	NM_001715.3(BLK):c.270-176G>A	noncoding	Benign
8	11548899	G	A	G11548899A	BLK	NM_001715.3(BLK):c.270-125G>A	noncoding	Benign
8	11549306	T	C	T11549306C	BLK	NM_001715.3(BLK):c.368+184T>C	noncoding	Benign
8	11549391	T	C	T11549391C	BLK	NM_001715.3(BLK):c.368+269T>C	noncoding	Benign
8	11550533	G	A	G11550533A	BLK	NM_001715.3(BLK):c.472+271G>A	noncoding	Benign
8	11550576	T	G	T11550576G	BLK	NM_001715.3(BLK):c.472+314T>G	noncoding	Benign
8	11550602	G	C	G11550602C	BLK	NM_001715.3(BLK):c.472+340G>C	noncoding	Benign
8	11554555	A	C	A11554555C	BLK	NM_001715.3(BLK):c.473-188A>C	noncoding	Benign
8	11554736	C	T	C11554736T	BLK	NM_001715.3(BLK):c.473-7C>T	noncoding	Benign
8	11555624	C	T	C11555624T	BLK	NM_001715.3(BLK):c.772+140C>T	noncoding	Benign
8	11555683	T	C	T11555683C	BLK	NM_001715.3(BLK):c.772+199T>C	noncoding	Benign
8	11556384	C	T	C11556384T	BLK	NM_001715.3(BLK):c.773-274C>T	noncoding	Benign
8	11556504	G	C	G11556504C	BLK	NM_001715.3(BLK):c.773-154G>C	noncoding	Benign
8	11557675	C	G	C11557675G	BLK	NM_001715.3(BLK):c.953-287C>G	noncoding	Benign
8	11558063	A	G	A11558063G	BLK	NM_001715.3(BLK):c.1029+25A>G	noncoding	Benign
8	11558088	C	T	C11558088T	BLK	NM_001715.3(BLK):c.1029+50C>T	noncoding	Benign
8	11558285	T	A	T11558285A	BLK	NM_001715.3(BLK):c.1029+247T>A	noncoding	Benign
8	11558303	C	T	C11558303T	BLK	NM_001715.3(BLK):c.1029+265C>T	noncoding	Benign
8	11561169	T	C	T11561169C	BLK	NM_001715.3(BLK):c.1030-133T>C	noncoding	Benign
8	11561257	G	A	G11561257A	BLK	NM_001715.3(BLK):c.1030-45G>A	noncoding	Benign
8	11561264	C	T	C11561264T	BLK	NM_001715.3(BLK):c.1030-38C>T	noncoding	Benign
8	11561516	G	C	G11561516C	BLK	NM_001715.3(BLK):c.1180+64G>C	noncoding	Benign
8	11562712	G	A	G11562712A	BLK	NM_001715.3(BLK):c.1181-267G>A	noncoding	Benign
8	11562786	T	C	T11562786C	BLK	NM_001715.3(BLK):c.1181-193T>C	noncoding	Benign
8	11563135	C	G	C11563135G	BLK	NM_001715.3(BLK):c.1312+25C>G	noncoding	Benign
8	11563389	G	A	G11563389A	BLK	NM_001715.3(BLK):c.1312+279G>A	noncoding	Benign
8	11563421	C	A	C11563421A	BLK	NM_001715.3(BLK):c.1312+311C>A	noncoding	Benign
8	11563745	C	T	C11563745T	BLK	NM_001715.3(BLK):c.1313-158C>T	noncoding	Benign
8	11563812	T	C	T11563812C	BLK	NM_001715.3(BLK):c.1313-91T>C	noncoding	Benign
8	11563849	C	A	C11563849A	BLK	NM_001715.3(BLK):c.1313-54C>A	noncoding	Benign
8	11563875	C	T	C11563875T	BLK	NM_001715.3(BLK):c.1313-28C>T	noncoding	Benign
8	11563928	C	G	C11563928G	BLK	NM_001715.3(BLK):c.1338C>G:p.Arg446=	coding	Benign
8	11564621	T	C	T11564621C	BLK	Single_allele	noncoding	Benign
8	11564661	A	G	A11564661G	BLK	Single_allele	noncoding	Benign
8	11564671	C	T	C11564671T	BLK	Single_allele	noncoding	Benign
8	11564780	G	C	G11564780C	BLK	Single_allele	noncoding	Benign
8	11564818	T	C	T11564818C	BLK	Single_allele	noncoding	Benign
8	11573132	C	T	C11573132T	BLK	NC_000008.11:g.11573132C>T	noncoding	Benign
8	11703355	C	A	C11703355A	GATA4	NM_001308094.2(GATA4):c.-6+2577C>A	noncoding	Benign
8	11703717	A	C	A11703717C	GATA4	NM_001308094.2(GATA4):c.-6+2939A>C	noncoding	Benign
8	11703972	G	C	G11703972C	GATA4	NM_001308094.2(GATA4):c.-6+3194G>C	noncoding	Benign
8	11704219	C	T	C11704219T	GATA4	NM_001308093.3(GATA4):c.-543C>T	noncoding	Benign
8	11704309	G	A	G11704309A	GATA4	NM_001308093.3(GATA4):c.-458+5G>A	noncoding	Benign
8	11707578	C	A	C11707578A	GATA4	NM_001308093.3(GATA4):c.-457-278C>A	noncoding	Benign
8	11708366	C	A	C11708366A	GATA4	NM_001308093.3(GATA4):c.54C>A:p.Tyr18Ter	coding	Pathogenic
8	11708366	C	G	C11708366G	GATA4	NM_001308093.3(GATA4):c.54C>G:p.Tyr18Ter	coding	Pathogenic
8	11708402	G	A	G11708402A	GATA4	NM_001308093.3(GATA4):c.90G>A:p.Ala30=	coding	Benign/Likely_benign
8	11708546	G	A	G11708546A	GATA4	NM_001308093.3(GATA4):c.234G>A:p.Ala78=	coding	Benign
8	11708578	G	A	G11708578A	GATA4	NM_001308093.3(GATA4):c.266G>A:p.Trp89Ter	coding	Pathogenic
8	11748569	G	C	G11748569C	GATA4	NM_001308093.3(GATA4):c.617-347G>C	noncoding	Benign
8	11748643	C	G	C11748643G	GATA4	NM_001308093.3(GATA4):c.617-273C>G	noncoding	Benign
8	11748803	T	C	T11748803C	GATA4	NM_001308093.3(GATA4):c.617-113T>C	noncoding	Benign
8	11748855	G	C	G11748855C	GATA4	NM_001308093.3(GATA4):c.617-61G>C	noncoding	Benign
8	11748990	C	T	C11748990T	GATA4	NM_001308093.3(GATA4):c.691C>T:p.Arg231Ter	coding	Pathogenic
8	11749821	C	T	C11749821T	GATA4	NM_001308093.3(GATA4):c.787-290C>T	noncoding	Benign
8	11749843	C	T	C11749843T	GATA4	NM_001308093.3(GATA4):c.787-268C>T	noncoding	Benign
8	11749863	T	C	T11749863C	GATA4	NM_001308093.3(GATA4):c.787-248T>C	noncoding	Benign
8	11749868	A	G	A11749868G	GATA4	NM_001308093.3(GATA4):c.787-243A>G	noncoding	Benign
8	11749887	G	A	G11749887A	GATA4	NM_001308093.3(GATA4):c.787-224G>A	noncoding	Benign
8	11750095	G	A	G11750095A	GATA4	NM_001308093.3(GATA4):c.787-16G>A	noncoding	Benign
8	11750178	G	A	G11750178A	GATA4	NM_001308093.3(GATA4):c.854G>A:p.Arg285His	coding	Pathogenic
8	11750251	C	T	C11750251T	GATA4	NM_001308093.3(GATA4):c.912+15C>T	noncoding	Benign
8	11750261	G	A	G11750261A	GATA4	NM_001308093.3(GATA4):c.912+25G>A	noncoding	Benign
8	11750421	C	T	C11750421T	GATA4	NM_001308093.3(GATA4):c.912+185C>T	noncoding	Benign
8	11750450	A	G	A11750450G	GATA4	NM_001308093.3(GATA4):c.912+214A>G	noncoding	Benign
8	11750481	G	A	G11750481A	GATA4	NM_001308093.3(GATA4):c.912+245G>A	noncoding	Benign
8	11754770	G	C	G11754770C	GATA4	NM_001308093.3(GATA4):c.913-276G>C	noncoding	Benign
8	11754788	G	A	G11754788A	GATA4	NM_001308093.3(GATA4):c.913-258G>A	noncoding	Benign
8	11754806	C	T	C11754806T	GATA4	NM_001308093.3(GATA4):c.913-240C>T	noncoding	Benign
8	11754872	T	C	T11754872C	GATA4	NM_001308093.3(GATA4):c.913-174T>C	noncoding	Benign
8	11755156	A	T	A11755156T	GATA4	NM_001308093.3(GATA4):c.1000+23A>T	noncoding	Benign
8	11755189	C	A	C11755189A	GATA4	NM_001308093.3(GATA4):c.1000+56C>A	noncoding	Benign
8	11755236	G	T	G11755236T	GATA4	NM_001308093.3(GATA4):c.1000+103G>T	noncoding	Benign
8	11755333	G	A	G11755333A	GATA4	NM_001308093.3(GATA4):c.1000+200G>A	noncoding	Benign
8	11755420	A	C	A11755420C	GATA4	NM_001308093.3(GATA4):c.1000+287A>C	noncoding	Benign
8	11755454	G	A	G11755454A	GATA4	NM_001308093.3(GATA4):c.1000+321G>A	noncoding	Benign
8	11756666	G	T	G11756666T	GATA4	NM_001308093.3(GATA4):c.1001-269G>T	noncoding	Benign
8	11756716	G	T	G11756716T	GATA4	NM_001308093.3(GATA4):c.1001-219G>T	noncoding	Benign
8	11756796	A	T	A11756796T	GATA4	NM_001308093.3(GATA4):c.1001-139A>T	noncoding	Benign
8	11756804	A	G	A11756804G	GATA4	NM_001308093.3(GATA4):c.1001-131A>G	noncoding	Benign
8	11756807	T	C	T11756807C	GATA4	NM_001308093.3(GATA4):c.1001-128T>C	noncoding	Benign
8	11756820	C	T	C11756820T	GATA4	NM_001308093.3(GATA4):c.1001-115C>T	noncoding	Benign
8	11757260	C	T	C11757260T	GATA4	NM_001308093.3(GATA4):c.1149+177C>T	noncoding	Benign
8	11757489	G	C	G11757489C	GATA4	NM_001308093.3(GATA4):c.1149+406G>C	noncoding	Benign
8	11757956	T	C	T11757956C	GATA4	NM_001308093.3(GATA4):c.1150-337T>C	noncoding	Benign
8	11758186	A	G	A11758186G	GATA4	NM_001308093.3(GATA4):c.1150-107A>G	noncoding	Benign
8	11758230	C	T	C11758230T	GATA4	NM_001308093.3(GATA4):c.1150-63C>T	noncoding	Benign
8	11758273	G	A	G11758273A	GATA4	NM_001308093.3(GATA4):c.1150-20G>A	noncoding	Benign/Likely_benign
8	11758613	G	C	G11758613C	GATA4	NM_001308093.3(GATA4):c.*138G>C	noncoding	Benign
8	11759327	G	A	G11759327A	GATA4	NM_001308093.3(GATA4):c.*852G>A	noncoding	Benign
8	11759633	C	T	C11759633T	GATA4	NM_001308093.3(GATA4):c.*1158C>T	noncoding	Benign
8	11759731	A	T	A11759731T	GATA4	NM_001308093.3(GATA4):c.*1256A>T	noncoding	Benign
8	11759830	G	A	G11759830A	GATA4	NM_001308093.3(GATA4):c.*1355G>A	noncoding	Benign
8	11759996	C	G	C11759996G	GATA4	NM_001308093.3(GATA4):c.*1521C>G	noncoding	Benign
8	11787242	A	G	A11787242G	NEIL2	NM_145043.4(NEIL2):c.*969A>G	noncoding	Benign
8	11808828	A	G	A11808828G	FDFT1	NM_004462.5(FDFT1):c.134A>G:p.Lys45Arg	coding	Benign
8	11826144	T	C	T11826144C	FDFT1	NM_004462.5(FDFT1):c.631T>C:p.Leu211=	coding	Benign
8	11830429	G	C	G11830429C	FDFT1	NM_004462.5(FDFT1):c.879+9G>C	noncoding	Benign
8	11831610	G	C	G11831610C	FDFT1	NM_004462.5(FDFT1):c.972G>C:p.Leu324=	coding	Benign
8	11838363	T	C	T11838363C	FDFT1	NM_004462.5(FDFT1):c.1033-25T>C	noncoding	Benign
8	11845182	G	A	G11845182A	CTSB	NM_001908.5(CTSB):c.963C>T:p.Ile321=	coding	Benign
8	11845196	C	T	C11845196T	CTSB	NM_001908.5(CTSB):c.949G>A:p.Asp317Asn	coding	Benign
8	11845647	G	C	G11845647C	CTSB	NM_001908.5(CTSB):c.922+14C>G	noncoding	Benign
8	11845648	G	A	G11845648A	CTSB	NM_001908.5(CTSB):c.922+13C>T	noncoding	Benign
8	11847077	A	G	A11847077G	CTSB	NM_001908.5(CTSB):c.768T>C:p.Tyr256=	coding	Benign
8	11847136	T	C	T11847136C	CTSB	NM_001908.5(CTSB):c.709A>G:p.Lys237Glu	coding	Benign
8	11847141	C	T	C11847141T	CTSB	NM_001908.5(CTSB):c.704G>A:p.Ser235Asn	coding	Benign
8	11847146	G	A	G11847146A	CTSB	NM_001908.5(CTSB):c.699C>T:p.Ser233=	coding	Benign
8	11847158	G	C	G11847158C	CTSB	NM_001908.5(CTSB):c.687C>G:p.Ser229=	coding	Benign
8	11847833	G	C	G11847833C	CTSB	NM_001908.5(CTSB):c.533-11C>G	noncoding	Benign
8	11848168	C	G	C11848168G	CTSB	NM_001908.5(CTSB):c.447-16G>C	noncoding	Benign
8	11849037	C	G	C11849037G	CTSB	NM_001908.5(CTSB):c.446+9G>C	noncoding	Benign
8	11849072	T	C	T11849072C	CTSB	NM_001908.5(CTSB):c.420A>G:p.Thr140=	coding	Benign
8	11849072	T	G	T11849072G	CTSB	NM_001908.5(CTSB):c.420A>C:p.Thr140=	coding	Benign
8	11849174	C	A	C11849174A	CTSB	NM_001908.5(CTSB):c.328-10G>T	noncoding	Benign
8	11849174	C	T	C11849174T	CTSB	NM_001908.5(CTSB):c.328-10G>A	noncoding	Benign
8	11849182	A	G	A11849182G	CTSB	NM_001908.5(CTSB):c.328-18T>C	noncoding	Benign
8	11850846	G	A	G11850846A	CTSB	NM_001908.5(CTSB):c.327+20C>T	noncoding	Benign
8	11850856	A	T	A11850856T	CTSB	NM_001908.5(CTSB):c.327+10T>A	noncoding	Benign
8	11850970	T	C	T11850970C	CTSB	NM_001908.5(CTSB):c.223A>G:p.Thr75Ala	coding	Benign
8	11852665	T	C	T11852665C	CTSB	NM_001908.5(CTSB):c.157A>G:p.Ser53Gly	coding	Benign
8	11852704	G	C	G11852704C	CTSB	NM_001908.5(CTSB):c.127-9C>G	noncoding	Benign
8	11853378	A	G	A11853378G	CTSB	NM_001908.5(CTSB):c.77T>C:p.Leu26Pro	coding	Benign
8	11853379	G	C	G11853379C	CTSB	NM_001908.5(CTSB):c.76C>G:p.Leu26Val	coding	Benign
8	13086116	C	G	C13086116G	DLC1	NM_182643.3(DLC1):c.4466+174G>C	noncoding	Benign
8	13086182	C	T	C13086182T	DLC1	NM_182643.3(DLC1):c.4466+108G>A	noncoding	Benign
8	13088343	G	A	G13088343A	DLC1	NM_182643.3(DLC1):c.4292+144C>T	noncoding	Benign
8	13088783	A	G	A13088783G	DLC1	NM_182643.3(DLC1):c.4075-79T>C	noncoding	Benign
8	13090596	C	A	C13090596A	DLC1	NM_182643.3(DLC1):c.3856-126G>T	noncoding	Benign
8	13090627	T	G	T13090627G	DLC1	NM_182643.3(DLC1):c.3856-157A>C	noncoding	Benign
8	13091104	G	A	G13091104A	DLC1	NM_182643.3(DLC1):c.3855+214C>T	noncoding	Benign
8	13091442	A	G	A13091442G	DLC1	NM_182643.3(DLC1):c.3741-10T>C	noncoding	Benign
8	13091500	A	C	A13091500C	DLC1	NM_182643.3(DLC1):c.3741-68T>G	noncoding	Benign
8	13092601	G	A	G13092601A	DLC1	NM_182643.3(DLC1):c.3740+11C>T	noncoding	Benign
8	13092806	G	T	G13092806T	DLC1	NM_182643.3(DLC1):c.3546C>A:p.Arg1182=	coding	Benign
8	13092977	T	C	T13092977C	DLC1	NM_182643.3(DLC1):c.3527-152A>G	noncoding	Benign
8	13094721	C	T	C13094721T	DLC1	NM_182643.3(DLC1):c.3526+38G>A	noncoding	Benign
8	13094784	C	T	C13094784T	DLC1	NM_182643.3(DLC1):c.3501G>A:p.Ser1167=	coding	Benign
8	13099189	T	A	T13099189A	DLC1	NM_182643.3(DLC1):c.2990+158A>T	noncoding	Benign
8	13099966	C	T	C13099966T	DLC1	NM_182643.3(DLC1):c.2371G>A:p.Val791Met	coding	Benign
8	13100516	C	A	C13100516A	DLC1	NM_182643.3(DLC1):c.1821G>T:p.Ala607=	coding	Benign
8	13100636	T	G	T13100636G	DLC1	NM_182643.3(DLC1):c.1701A>C:p.Pro567=	coding	Benign
8	13100925	A	G	A13100925G	DLC1	NM_182643.3(DLC1):c.1567-155T>C	noncoding	Benign
8	13102772	T	C	T13102772C	DLC1	NM_182643.3(DLC1):c.1566+18A>G	noncoding	Benign
8	13115437	C	G	C13115437G	DLC1	NM_182643.3(DLC1):c.1420+149G>C	noncoding	Benign
8	13115472	A	T	A13115472T	DLC1	NM_182643.3(DLC1):c.1420+114T>A	noncoding	Benign
8	13115569	T	C	T13115569C	DLC1	NM_182643.3(DLC1):c.1420+17A>G	noncoding	Benign
8	13115644	C	T	C13115644T	DLC1	NM_182643.3(DLC1):c.1362G>A:p.Lys454=	coding	Benign
8	13115692	T	C	T13115692C	DLC1	NM_182643.3(DLC1):c.1349-35A>G	noncoding	Benign
8	13115769	A	C	A13115769C	DLC1	NM_182643.3(DLC1):c.1349-112T>G	noncoding	Benign
8	13115770	T	A	T13115770A	DLC1	NM_182643.3(DLC1):c.1349-113A>T	noncoding	Benign
8	13132761	C	G	C13132761G	DLC1	NM_182643.3(DLC1):c.1349-17104G>C	noncoding	Benign
8	13132845	C	T	C13132845T	DLC1	NM_182643.3(DLC1):c.1349-17188G>A	noncoding	Benign
8	13132913	A	G	A13132913G	DLC1	NM_182643.3(DLC1):c.1349-17256T>C	noncoding	Benign
8	13133009	T	A	T13133009A	DLC1	NM_182643.3(DLC1):c.1349-17352A>T	coding	Benign
8	13133057	C	A	C13133057A	DLC1	NM_182643.3(DLC1):c.1349-17400G>T	coding	Benign
8	13133150	G	A	G13133150A	DLC1	NM_182643.3(DLC1):c.1349-17493C>T	coding	Benign
8	13133225	C	A	C13133225A	DLC1	NM_182643.3(DLC1):c.1349-17568G>T	coding	Benign
8	13133305	C	G	C13133305G	DLC1	NM_182643.3(DLC1):c.1349-17648G>C	noncoding	Benign
8	13133309	A	G	A13133309G	DLC1	NM_182643.3(DLC1):c.1349-17652T>C	noncoding	Benign
8	13133430	T	A	T13133430A	DLC1	NM_182643.3(DLC1):c.1349-17773A>T	noncoding	Benign
8	13133431	C	T	C13133431T	DLC1	NM_182643.3(DLC1):c.1349-17774G>A	noncoding	Benign
8	13133439	C	G	C13133439G	DLC1	NM_182643.3(DLC1):c.1349-17782G>C	noncoding	Benign
8	13133524	C	T	C13133524T	DLC1	NM_182643.3(DLC1):c.1349-17867G>A	noncoding	Benign
8	13305032	C	T	C13305032T	DLC1	NM_182643.3(DLC1):c.1348+237G>A	coding	Benign
8	13305373	C	T	C13305373T	DLC1	NM_182643.3(DLC1):c.1315-71G>A	noncoding	Benign
8	13305437	A	G	A13305437G	DLC1	NM_182643.3(DLC1):c.1315-135T>C	noncoding	Benign
8	13393617	G	A	G13393617A	DLC1	NM_182643.3(DLC1):c.1250C>T:p.Thr417Ile	coding	Benign
8	13393726	C	T	C13393726T	DLC1	NM_182643.3(DLC1):c.1174-33G>A	noncoding	Benign
8	13393888	G	A	G13393888A	DLC1	NM_182643.3(DLC1):c.1174-195C>T	noncoding	Benign
8	13393913	A	G	A13393913G	DLC1	NM_182643.3(DLC1):c.1174-220T>C	noncoding	Benign
8	13401249	A	T	A13401249T	DLC1	NM_182643.3(DLC1):c.1173+221T>A	noncoding	Benign
8	13401418	G	C	G13401418C	DLC1	NM_182643.3(DLC1):c.1173+52C>G	noncoding	Benign
8	13401427	T	A	T13401427A	DLC1	NM_182643.3(DLC1):c.1173+43A>T	noncoding	Benign
8	13498915	G	T	G13498915T	DLC1	NM_182643.3(DLC1):c.1023+134C>A	noncoding	Benign
8	13498976	C	G	C13498976G	DLC1	NM_182643.3(DLC1):c.1023+73G>C	noncoding	Benign
8	13499112	T	G	T13499112G	DLC1	NM_182643.3(DLC1):c.960A>C:p.Gln320His	coding	Benign
8	13499293	G	A	G13499293A	DLC1	NM_182643.3(DLC1):c.779C>T:p.Thr260Ile	coding	Benign
8	13499298	C	T	C13499298T	DLC1	NM_182643.3(DLC1):c.774G>A:p.Leu258=	coding	Benign
8	13499309	T	C	T13499309C	DLC1	NM_182643.3(DLC1):c.763A>G:p.Asn255Asp	coding	Benign
8	13499310	T	G	T13499310G	DLC1	NM_182643.3(DLC1):c.762A>C:p.Gln254His	coding	Benign
8	13499831	G	C	G13499831C	DLC1	NM_182643.3(DLC1):c.241C>G:p.Leu81Val	coding	Benign
8	13499993	G	A	G13499993A	DLC1	NM_182643.3(DLC1):c.79C>T:p.Arg27Cys	coding	Benign
8	13500078	G	A	G13500078A	DLC1	NM_182643.3(DLC1):c.-7C>T	noncoding	Benign
8	13500118	G	A	G13500118A	DLC1	NM_182643.3(DLC1):c.-47C>T	noncoding	Benign
8	15540642	G	A	G15540642A	TUSC3	NM_006765.4(TUSC3):c.138+74G>A	noncoding	Benign
8	15540736	G	A	G15540736A	TUSC3	NM_006765.4(TUSC3):c.138+168G>A	noncoding	Benign
8	15622819	T	A	T15622819A	TUSC3	NM_006765.4(TUSC3):c.139-261T>A	noncoding	Benign
8	15622866	G	C	G15622866C	TUSC3	NM_006765.4(TUSC3):c.139-214G>C	noncoding	Benign
8	15650922	G	A	G15650922A	TUSC3	NM_006765.4(TUSC3):c.426+108G>A	noncoding	Benign
8	15659264	C	T	C15659264T	TUSC3	NM_006765.4(TUSC3):c.427-243C>T	noncoding	Benign
8	15662072	T	G	T15662072G	TUSC3	NM_006765.4(TUSC3):c.568-84T>G	noncoding	Benign
8	15673521	T	A	T15673521A	TUSC3	NM_006765.4(TUSC3):c.709-226T>A	noncoding	Benign
8	15730472	G	C	G15730472C	TUSC3	NM_006765.4(TUSC3):c.799-194G>C	noncoding	Benign
8	15730748	G	A	G15730748A	TUSC3	NM_006765.4(TUSC3):c.862+19G>A	noncoding	Benign
8	15730915	C	T	C15730915T	TUSC3	NM_006765.4(TUSC3):c.862+186C>T	noncoding	Benign
8	15731020	G	A	G15731020A	TUSC3	NM_006765.4(TUSC3):c.862+291G>A	noncoding	Benign
8	15743278	G	A	G15743278A	TUSC3	NM_006765.4(TUSC3):c.863-260G>A	noncoding	Benign
8	15743772	A	T	A15743772T	TUSC3	NM_006765.4(TUSC3):c.937+160A>T	noncoding	Benign
8	15748465	G	C	G15748465C	TUSC3	NM_006765.4(TUSC3):c.1028G>C:p.Ser343Thr	coding	Pathogenic
8	15748476	T	C	T15748476C	TUSC3	NM_006765.4(TUSC3):c.1028+11T>C	noncoding	Benign
8	15748533	A	G	A15748533G	TUSC3	NM_006765.4(TUSC3):c.1028+68A>G	noncoding	Benign
8	15748673	G	A	G15748673A	TUSC3	NM_006765.4(TUSC3):c.1028+208G>A	noncoding	Benign
8	15757580	C	T	C15757580T	TUSC3	NM_006765.4(TUSC3):c.1029-211C>T	noncoding	Benign
8	15763909	C	G	C15763909G	TUSC3	NM_006765.4(TUSC3):c.*47-294C>G	noncoding	Benign
8	16992890	G	A	G16992890A	FGF20	NM_019851.3(FGF20):c.*182C>T	noncoding	Benign
8	16992907	A	G	A16992907G	FGF20	NM_019851.3(FGF20):c.*165T>C	noncoding	Benign
8	16992989	C	G	C16992989G	FGF20	NM_019851.3(FGF20):c.*83G>C	noncoding	Benign
8	16993369	T	G	T16993369G	FGF20	NM_019851.3(FGF20):c.391-52A>C	noncoding	Benign
8	16993428	G	T	G16993428T	FGF20	NM_019851.3(FGF20):c.391-111C>A	noncoding	Benign
8	17001889	C	G	C17001889G	FGF20	NM_019851.3(FGF20):c.144G>C:p.Ala48=	coding	Benign
8	17001931	C	T	C17001931T	FGF20	NM_019851.3(FGF20):c.102G>A:p.Pro34=	coding	Benign
8	17268069	T	C	T17268069C	VPS37A	NM_152415.3(VPS37A):c.201-189T>C	noncoding	Benign
8	17268138	G	A	G17268138A	VPS37A	NM_152415.3(VPS37A):c.201-120G>A	noncoding	Benign
8	17268386	A	C	A17268386C	VPS37A	NM_152415.3(VPS37A):c.315+14A>C	noncoding	Benign/Likely_benign
8	17274394	A	G	A17274394G	VPS37A	NM_152415.3(VPS37A):c.417-339A>G	noncoding	Benign
8	17279955	A	G	A17279955G	VPS37A	NM_152415.3(VPS37A):c.714-73A>G	noncoding	Benign
8	17282869	A	G	A17282869G	VPS37A	NM_152415.3(VPS37A):c.970-1604A>G	noncoding	Benign
8	17284223	A	C	A17284223C	VPS37A	NM_152415.3(VPS37A):c.970-250A>C	noncoding	Benign
8	17286321	G	C	G17286321C	VPS37A	NM_152415.3(VPS37A):c.1114-26G>C	noncoding	Benign
8	17286511	C	A	C17286511A	VPS37A	NM_152415.3(VPS37A):c.*1194+84C>A	noncoding	Benign
8	18059243	G	A	G18059243A	ASAH1	NM_177924.5(ASAH1):c.1041+98C>T	noncoding	Benign
8	18059322	G	T	G18059322T	ASAH1	NM_177924.5(ASAH1):c.1041+19C>A	noncoding	Benign/Likely_benign
8	18059500	A	C	A18059500C	ASAH1	NM_177924.5(ASAH1):c.918-36T>G	noncoding	Benign
8	18061217	G	A	G18061217A	ASAH1	NM_177924.5(ASAH1):c.785+160C>T	noncoding	Benign
8	18061234	T	C	T18061234C	ASAH1	NM_177924.5(ASAH1):c.785+143A>G	noncoding	Benign
8	18061259	C	T	C18061259T	ASAH1	NM_177924.5(ASAH1):c.785+118G>A	noncoding	Benign
8	18061412	C	A	C18061412A	ASAH1	NM_177924.5(ASAH1):c.750G>T:p.Gly250=	coding	Benign
8	18061522	C	T	C18061522T	ASAH1	NM_177924.5(ASAH1):c.704-64G>A	noncoding	Benign
8	18061961	A	C	A18061961C	ASAH1	NM_177924.5(ASAH1):c.649-221T>G	noncoding	Benign
8	18062059	G	A	G18062059A	ASAH1	NM_177924.5(ASAH1):c.648+220C>T	noncoding	Benign
8	18062259	T	G	T18062259G	ASAH1	NM_177924.5(ASAH1):c.648+20A>C	noncoding	Benign
8	18062422	A	G	A18062422G	ASAH1	NM_177924.5(ASAH1):c.505T>C:p.Trp169Arg	coding	Pathogenic/Likely_pathogenic
8	18062568	T	A	T18062568A	ASAH1	NM_177924.5(ASAH1):c.504-145A>T	noncoding	Benign
8	18064301	G	C	G18064301C	ASAH1	NM_177924.5(ASAH1):c.457+156C>G	noncoding	Benign
8	18064487	A	C	A18064487C	ASAH1	NM_177924.5(ASAH1):c.427T>G:p.Cys143Gly	coding	Pathogenic
8	18064502	C	A	C18064502A	ASAH1	NM_177924.5(ASAH1):c.412G>T:p.Glu138Ter	coding	Pathogenic/Likely_pathogenic
8	18064645	G	A	G18064645A	ASAH1	NM_177924.5(ASAH1):c.383-114C>T	noncoding	Benign
8	18067071	G	A	G18067071A	ASAH1	NM_177924.5(ASAH1):c.382+149C>T	noncoding	Benign
8	18067161	T	C	T18067161C	ASAH1	NM_177924.5(ASAH1):c.382+59A>G	noncoding	Benign
8	18067244	C	G	C18067244G	ASAH1	NM_177924.5(ASAH1):c.358G>C:p.Ala120Pro	coding	Pathogenic
8	18069623	A	G	A18069623G	ASAH1	NM_177924.5(ASAH1):c.303+169T>C	noncoding	Benign
8	18069812	G	A	G18069812A	ASAH1	NM_177924.5(ASAH1):c.283C>T:p.Gln95Ter	coding	Pathogenic
8	18069954	T	A	T18069954A	ASAH1	NM_177924.5(ASAH1):c.217-76A>T	noncoding	Benign
8	18071202	G	A	G18071202A	ASAH1	NM_177924.5(ASAH1):c.216+98C>T	noncoding	Benign
8	18071227	C	A	C18071227A	ASAH1	NM_177924.5(ASAH1):c.216+73G>T	noncoding	Benign
8	18071330	C	T	C18071330T	ASAH1	NM_177924.5(ASAH1):c.186G>A:p.Trp62Ter	coding	Pathogenic
8	18072990	C	T	C18072990T	ASAH1	NM_177924.5(ASAH1):c.126-1600G>A	noncoding	Benign
8	18073608	C	T	C18073608T	ASAH1	NM_177924.5(ASAH1):c.125+1933G>A	noncoding	Benign
8	18075228	T	C	T18075228C	ASAH1	NM_177924.5(ASAH1):c.125+313A>G	noncoding	Benign
8	18075269	A	C	A18075269C	ASAH1	NM_177924.5(ASAH1):c.125+272T>G	noncoding	Benign
8	18075736	T	C	T18075736C	ASAH1	NM_177924.5(ASAH1):c.79-149A>G	noncoding	Benign
8	18083680	G	C	G18083680C	ASAH1	NM_177924.5(ASAH1):c.78+301C>G	noncoding	Benign
8	18083728	C	G	C18083728G	ASAH1	NM_177924.5(ASAH1):c.78+253G>C	noncoding	Benign
8	18083906	C	T	C18083906T	ASAH1	NM_177924.5(ASAH1):c.78+75G>A	noncoding	Benign
8	18083995	G	A	G18083995A	ASAH1	NM_177924.5(ASAH1):c.64C>T:p.Gln22Ter	coding	Pathogenic
8	18084056	C	A	C18084056A	ASAH1	NM_177924.5(ASAH1):c.3G>T:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
8	18084285	A	C	A18084285C	ASAH1	NM_177924.4(ASAH1):c.-227T>G	coding	Benign/Likely_benign
8	18084296	G	A	G18084296A	ASAH1	NM_177924.4(ASAH1):c.-238C>T	coding	Benign/Likely_benign
8	18084412	G	C	G18084412C	ASAH1	NM_004315.6(ASAH1):c.126+264C>G	noncoding	Benign
8	18084512	T	C	T18084512C	ASAH1	NM_004315.6(ASAH1):c.126+164A>G	noncoding	Benign
8	18084530	C	T	C18084530T	ASAH1	NM_004315.6(ASAH1):c.126+146G>A	noncoding	Benign
8	18084625	A	G	A18084625G	ASAH1	NM_004315.6(ASAH1):c.126+51T>C	noncoding	Benign
8	18085340	T	C	T18085340C	ASAH1	NR_125429.1(ASAH1-AS1):n.171T>C	noncoding	Benign
8	19405492	G	A	G19405492A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.*288C>T	noncoding	Benign
8	19405817	C	G	C19405817G	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.1562G>C:p.Arg521Pro	coding	Benign
8	19405930	G	A	G19405930A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.1449C>T:p.Asp483=	coding	Benign
8	19405940	C	T	C19405940T	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.1439G>A:p.Arg480His	coding	Benign
8	19405961	A	T	A19405961T	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.1418T>A:p.Phe473Tyr	coding	Benign
8	19405966	T	C	T19405966C	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.1413A>G:p.Gly471=	coding	Benign
8	19408598	G	A	G19408598A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.1309+15C>T	noncoding	Benign
8	19408927	G	A	G19408927A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.1228-233C>T	noncoding	Benign
8	19418647	A	C	A19418647C	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.1227+9T>G	noncoding	Benign
8	19420224	A	G	A19420224G	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.1132+116T>C	noncoding	Benign
8	19420306	G	A	G19420306A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.1132+34C>T	noncoding	Benign
8	19420419	G	A	G19420419A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.1053C>T:p.Asn351=	coding	Benign
8	19420516	G	A	G19420516A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.956C>T:p.Ala319Val	coding	Benign
8	19439540	C	T	C19439540T	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.953+290G>A	noncoding	Benign
8	19439816	C	T	C19439816T	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.953+14G>A	noncoding	Benign
8	19440071	G	C	G19440071C	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.852-140C>G	noncoding	Benign
8	19440072	A	G	A19440072G	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.852-141T>C	noncoding	Benign
8	19440256	T	C	T19440256C	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.852-325A>G	noncoding	Benign
8	19458334	C	T	C19458334T	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.851+92G>A	noncoding	Benign
8	19458494	C	T	C19458494T	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.783G>A:p.Thr261=	coding	Benign
8	19458575	G	A	G19458575A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.702C>T:p.His234=	coding	Benign
8	19458754	C	A	C19458754A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.635-112G>T	noncoding	Benign
8	19505220	C	T	C19505220T	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.615G>A:p.Thr205=	coding	Benign
8	19505257	C	T	C19505257T	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.578G>A:p.Ser193Asn	coding	Benign
8	19505334	G	A	G19505334A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.501C>T:p.Pro167=	coding	Benign
8	19505363	G	A	G19505363A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.472C>T:p.Gln158Ter	coding	Pathogenic
8	19505426	C	T	C19505426T	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.409G>A:p.Val137Ile	coding	Benign
8	19505438	C	T	C19505438T	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.397G>A:p.Val133Met	coding	Benign
8	19505458	G	A	G19505458A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.377C>T:p.Ser126Leu	coding	Benign
8	19505658	G	A	G19505658A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.177C>T:p.Ala59=	coding	Benign
8	19505774	G	A	G19505774A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.61C>T:p.Leu21Phe	coding	Benign
8	19505795	G	A	G19505795A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.40C>T:p.Arg14Trp	coding	Benign
8	19505914	C	T	C19505914T	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.-80G>A	noncoding	Benign
8	19506452	A	C	A19506452C	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.-296-322T>G	noncoding	Benign
8	19947984	T	G	T19947984G	LPL	NM_000237.3(LPL):c.89-196T>G	noncoding	Benign
8	19948333	G	A	G19948333A	LPL	NM_000237.3(LPL):c.242G>A:p.Gly81Asp	coding	Pathogenic/Likely_pathogenic
8	19948418	A	G	A19948418G	LPL	NM_000237.3(LPL):c.249+78A>G	noncoding	Benign
8	19952184	T	C	T19952184C	LPL	NM_000237.3(LPL):c.429+236T>C	noncoding	Benign
8	19953276	C	A	C19953276A	LPL	NM_000237.3(LPL):c.430-34C>A	noncoding	Benign
8	19953280	A	C	A19953280C	LPL	NM_000237.3(LPL):c.430-30A>C	noncoding	Benign
8	19953354	C	G	C19953354G	LPL	NM_000237.3(LPL):c.474C>G:p.Tyr158Ter	coding	Pathogenic
8	19953421	G	A	G19953421A	LPL	NM_000237.3(LPL):c.541G>A:p.Gly181Ser	coding	Pathogenic
8	19953421	G	C	G19953421C	LPL	NM_000237.3(LPL):c.541G>C:p.Gly181Arg	coding	Pathogenic
8	19953495	T	C	T19953495C	LPL	NM_000237.3(LPL):c.541+74T>C	noncoding	Benign
8	19953649	T	C	T19953649C	LPL	NM_000237.3(LPL):c.541+228T>C	noncoding	Benign
8	19953906	C	T	C19953906T	LPL	NM_000237.3(LPL):c.542-214C>T	noncoding	Benign
8	19954125	G	A	G19954125A	LPL	NM_000237.3(LPL):c.547G>A:p.Asp183Asn	coding	Pathogenic/Likely_pathogenic
8	19954269	G	A	G19954269A	LPL	NM_000237.3(LPL):c.691G>A:p.Asp231Asn	coding	Pathogenic
8	19954386	C	G	C19954386G	LPL	NM_000237.3(LPL):c.775+33C>G	noncoding	Benign
8	19954390	T	C	T19954390C	LPL	NM_000237.3(LPL):c.775+37T>C	noncoding	Benign
8	19954433	A	G	A19954433G	LPL	NM_000237.3(LPL):c.775+80A>G	noncoding	Benign
8	19954456	C	T	C19954456T	LPL	NM_000237.3(LPL):c.775+103C>T	noncoding	Benign
8	19955669	G	A	G19955669A	LPL	NM_000237.3(LPL):c.776-172G>A	noncoding	Benign
8	19955788	A	G	A19955788G	LPL	NM_000237.3(LPL):c.776-53A>G	noncoding	Benign
8	19955870	G	A	G19955870A	LPL	NM_000237.3(LPL):c.805G>A:p.Glu269Lys	coding	Pathogenic/Likely_pathogenic
8	19955927	G	C	G19955927C	LPL	NM_000237.3(LPL):c.862G>C:p.Ala288Pro	coding	Pathogenic
8	19955984	A	T	A19955984T	LPL	NM_000237.3(LPL):c.919A>T:p.Lys307Ter	coding	Pathogenic
8	19956049	G	T	G19956049T	LPL	NM_000237.3(LPL):c.984G>T:p.Met328Ile	coding	Pathogenic
8	19956068	C	T	C19956068T	LPL	NM_000237.3(LPL):c.1003C>T:p.Gln335Ter	coding	Pathogenic
8	19956117	A	G	A19956117G	LPL	NM_000237.3(LPL):c.1018+34A>G	noncoding	Benign
8	19956156	T	G	T19956156G	LPL	NM_000237.3(LPL):c.1018+73T>G	noncoding	Benign
8	19956165	C	A	C19956165A	LPL	NM_000237.3(LPL):c.1018+82C>A	noncoding	Benign
8	19956191	G	A	G19956191A	LPL	NM_000237.3(LPL):c.1018+108G>A	noncoding	Benign
8	19956417	C	G	C19956417G	LPL	NM_000237.3(LPL):c.1018+334C>G	noncoding	Benign
8	19959257	C	A	C19959257A	LPL	NM_000237.3(LPL):c.1019-3C>A	noncoding	Pathogenic
8	19959258	A	T	A19959258T	LPL	NM_000237.3(LPL):c.1019-2A>T	noncoding	Pathogenic
8	19959423	T	C	T19959423C	LPL	NM_000237.3(LPL):c.1139+43T>C	noncoding	Benign
8	19960977	A	T	A19960977T	LPL	NM_000237.3(LPL):c.1216A>T:p.Lys406Ter	coding	Pathogenic
8	19961020	G	A	G19961020A	LPL	NM_000237.3(LPL):c.1259G>A:p.Trp420Ter	coding	Pathogenic
8	19961024	G	A	G19961024A	LPL	NM_000237.3(LPL):c.1263G>A:p.Trp421Ter	coding	Pathogenic
8	19961084	G	C	G19961084C	LPL	NM_000237.3(LPL):c.1322+1G>C	coding	Pathogenic
8	19961085	T	G	T19961085G	LPL	NM_000237.3(LPL):c.1322+2T>G	noncoding	Pathogenic
8	19961262	G	T	G19961262T	LPL	NM_000237.3(LPL):c.1322+179G>T	noncoding	Benign
8	19961566	T	G	T19961566G	LPL	NM_000237.3(LPL):c.1322+483T>G	noncoding	Benign
8	19961817	T	C	T19961817C	LPL	NM_000237.3(LPL):c.1323-298T>C	noncoding	Benign
8	19961928	A	G	A19961928G	LPL	NM_000237.3(LPL):c.1323-187A>G	noncoding	Benign
8	19962025	T	G	T19962025G	LPL	NM_000237.3(LPL):c.1323-90T>G	noncoding	Benign
8	19965183	T	C	T19965183C	LPL	NM_000237.3(LPL):c.1428-127T>C	noncoding	Benign
8	19965299	C	T	C19965299T	LPL	NM_000237.3(LPL):c.1428-11C>T	noncoding	Benign
8	19967357	G	A	G19967357A	LPL	Single_allele	noncoding	Benign
8	19967385	T	G	T19967385G	LPL	Single_allele	noncoding	Benign
8	20209328	A	G	A20209328G	ATP6V1B2	NM_001693.4(ATP6V1B2):c.193-105A>G	noncoding	Benign
8	20209366	A	C	A20209366C	ATP6V1B2	NM_001693.4(ATP6V1B2):c.193-67A>C	noncoding	Benign
8	20209624	T	G	T20209624G	ATP6V1B2	NM_001693.4(ATP6V1B2):c.291+93T>G	noncoding	Benign
8	20210195	G	A	G20210195A	ATP6V1B2	NM_001693.4(ATP6V1B2):c.292-151G>A	noncoding	Benign
8	20210285	A	C	A20210285C	ATP6V1B2	NM_001693.4(ATP6V1B2):c.292-61A>C	noncoding	Benign
8	20210652	T	G	T20210652G	ATP6V1B2	NM_001693.4(ATP6V1B2):c.463+6T>G	noncoding	Benign
8	20210764	C	T	C20210764T	ATP6V1B2	NM_001693.4(ATP6V1B2):c.463+118C>T	noncoding	Benign
8	20211108	A	G	A20211108G	ATP6V1B2	NM_001693.4(ATP6V1B2):c.464-69A>G	noncoding	Benign
8	20211331	C	T	C20211331T	ATP6V1B2	NM_001693.4(ATP6V1B2):c.603+15C>T	noncoding	Benign
8	20212278	G	C	G20212278C	ATP6V1B2	NM_001693.4(ATP6V1B2):c.803+79G>C	noncoding	Benign
8	20212955	A	G	A20212955G	ATP6V1B2	NM_001693.4(ATP6V1B2):c.927+50A>G	noncoding	Benign
8	20214681	A	G	A20214681G	ATP6V1B2	NM_001693.4(ATP6V1B2):c.928-137A>G	noncoding	Benign
8	20216455	A	G	A20216455G	ATP6V1B2	NM_001693.4(ATP6V1B2):c.1121A>G:p.Glu374Gly	coding	Pathogenic
8	20216581	C	G	C20216581G	ATP6V1B2	NM_001693.4(ATP6V1B2):c.1161+86C>G	noncoding	Benign
8	20216981	T	C	T20216981C	ATP6V1B2	NM_001693.4(ATP6V1B2):c.1162-239T>C	noncoding	Benign
8	20217149	T	G	T20217149G	ATP6V1B2	NM_001693.4(ATP6V1B2):c.1162-71T>G	noncoding	Benign
8	20249814	G	C	G20249814C	LZTS1	NM_021020.5(LZTS1):c.1699C>G:p.Leu567Val	coding	Benign
8	20249833	C	T	C20249833T	LZTS1	NM_021020.5(LZTS1):c.1680G>A:p.Leu560=	coding	Benign
8	20249986	G	A	G20249986A	LZTS1	NM_021020.5(LZTS1):c.1527C>T:p.Ala509=	coding	Benign
8	20250090	G	C	G20250090C	LZTS1	NM_021020.5(LZTS1):c.1423C>G:p.Leu475Val	coding	Benign
8	20250182	C	G	C20250182G	LZTS1	NM_021020.5(LZTS1):c.1331G>C:p.Gly444Ala	coding	Benign
8	20250295	G	A	G20250295A	LZTS1	NM_021020.5(LZTS1):c.1218C>T:p.Asn406=	coding	Benign
8	20250582	A	C	A20250582C	LZTS1	NM_021020.5(LZTS1):c.1150-219T>G	noncoding	Benign
8	20252708	G	A	G20252708A	LZTS1	NM_021020.5(LZTS1):c.1149+74C>T	noncoding	Benign
8	20252806	G	A	G20252806A	LZTS1	NM_021020.5(LZTS1):c.1125C>T:p.Pro375=	coding	Benign
8	20252853	C	G	C20252853G	LZTS1	NM_021020.5(LZTS1):c.1078G>C:p.Glu360Gln	coding	Benign
8	20253130	C	T	C20253130T	LZTS1	NM_021020.5(LZTS1):c.801G>A:p.Glu267=	coding	Benign
8	20253154	G	A	G20253154A	LZTS1	NM_021020.5(LZTS1):c.777C>T:p.Asp259=	coding	Benign
8	20253493	G	A	G20253493A	LZTS1	NM_021020.5(LZTS1):c.438C>T:p.Ser146=	coding	Benign
8	20253505	C	G	C20253505G	LZTS1	NM_021020.5(LZTS1):c.426G>C:p.Pro142=	coding	Benign
8	20253594	G	A	G20253594A	LZTS1	NM_021020.5(LZTS1):c.346-9C>T	noncoding	Benign
8	20253775	A	G	A20253775G	LZTS1	NM_021020.5(LZTS1):c.346-190T>C	noncoding	Benign
8	20253792	C	T	C20253792T	LZTS1	NM_021020.5(LZTS1):c.346-207G>A	noncoding	Benign
8	20253815	A	G	A20253815G	LZTS1	NM_021020.5(LZTS1):c.346-230T>C	noncoding	Benign
8	20254850	T	C	T20254850C	LZTS1	NM_021020.5(LZTS1):c.332A>G:p.Asn111Ser	coding	Benign
8	20254907	C	G	C20254907G	LZTS1	NM_021020.5(LZTS1):c.275G>C:p.Gly92Ala	coding	Benign
8	20255094	G	T	G20255094T	LZTS1	NM_021020.5(LZTS1):c.88C>A:p.His30Asn	coding	Benign
8	20255313	G	C	G20255313C	LZTS1	NM_021020.5(LZTS1):c.-132C>G	noncoding	Benign
8	20255518	C	T	C20255518T	LZTS1	NM_021020.5(LZTS1):c.-134-203G>A	noncoding	Benign
8	22042640	T	A	T22042640A	FGF17	Single_allele	noncoding	Benign
8	22042994	C	G	C22042994G	FGF17	NM_003867.4(FGF17):c.35+31C>G	noncoding	Benign
8	22043246	A	G	A22043246G	FGF17	NM_003867.4(FGF17):c.72+65A>G	noncoding	Benign
8	22045805	G	A	G22045805A	FGF17	NM_003867.4(FGF17):c.73-309G>A	noncoding	Benign
8	22046298	G	A	G22046298A	FGF17	NM_003867.4(FGF17):c.250+7G>A	noncoding	Benign
8	22046615	G	A	G22046615A	FGF17	NM_003867.4(FGF17):c.339G>A:p.Arg113=	coding	Benign
8	22046701	T	C	T22046701C	FGF17	NM_003867.4(FGF17):c.357+68T>C	noncoding	Benign
8	22048261	G	C	G22048261C	FGF17	NM_003867.4(FGF17):c.*12G>C	noncoding	Benign
8	22116217	C	T	C22116217T	HR	NM_005144.5(HR):c.3507+83G>A	noncoding	Benign
8	22116457	C	A	C22116457A	HR	NM_005144.5(HR):c.3379-29G>T	noncoding	Benign
8	22116519	A	C	A22116519C	HR	NM_005144.5(HR):c.3379-91T>G	noncoding	Benign
8	22118854	A	G	A22118854G	HR	NM_005144.5(HR):c.3213+96T>C	noncoding	Benign
8	22119359	G	A	G22119359A	HR	NM_005144.5(HR):c.2978-76C>T	noncoding	Benign
8	22120559	A	G	A22120559G	HR	NM_005144.5(HR):c.2611-52T>C	noncoding	Benign
8	22120575	G	A	G22120575A	HR	NM_005144.5(HR):c.2611-68C>T	noncoding	Benign
8	22120785	C	T	C22120785T	HR	NM_005144.5(HR):c.2541G>A:p.Trp847Ter	coding	Pathogenic
8	22123059	A	C	A22123059C	HR	NM_005144.5(HR):c.1916-180T>G	noncoding	Benign
8	22123621	G	C	G22123621C	HR	NM_005144.5(HR):c.1915+28C>G	noncoding	Benign
8	22123705	C	T	C22123705T	HR	NM_005144.5(HR):c.1859G>A:p.Arg620Gln	coding	Benign/Likely_benign
8	22125203	C	T	C22125203T	HR	NM_005144.5(HR):c.1750+108G>A	noncoding	Benign
8	22126013	G	A	G22126013A	HR	NM_005144.5(HR):c.1406-281C>T	noncoding	Benign
8	22126975	G	A	G22126975A	HR	NM_005144.5(HR):c.1405+62C>T	noncoding	Benign
8	22128254	A	T	A22128254T	HR	NM_005144.5(HR):c.612+305T>A	noncoding	Benign
8	22128351	C	T	C22128351T	HR	NM_005144.5(HR):c.612+208G>A	noncoding	Benign
8	22148816	C	T	C22148816T	LGI3	NM_139278.4(LGI3):c.991G>A:p.Asp331Asn	coding	Pathogenic
8	22148978	C	T	C22148978T	LGI3	NM_139278.4(LGI3):c.830-1G>A	coding	Pathogenic
8	22153967	C	G	C22153967G	LGI3	NM_139278.4(LGI3):c.494+1G>C	noncoding	Pathogenic
8	22154142	A	T	A22154142T	LGI3	NM_139278.4(LGI3):c.422T>A:p.Leu141His	coding	Pathogenic
8	22154575	G	T	G22154575T	LGI3	NM_139278.4(LGI3):c.335C>A:p.Ser112Ter	coding	Pathogenic
8	22161558	G	A	G22161558A	SFTPC	NM_001385654.1(SFTPC):c.-53-218G>A	noncoding	Benign
8	22161905	G	A	G22161905A	SFTPC	NM_001317778.2(SFTPC):c.42+35G>A	noncoding	Benign
8	22161907	G	A	G22161907A	SFTPC	NM_001317778.2(SFTPC):c.42+37G>A	noncoding	Benign
8	22162299	G	A	G22162299A	SFTPC	NM_001317778.2(SFTPC):c.43-275G>A	noncoding	Benign
8	22162327	A	G	A22162327G	SFTPC	NM_001317778.2(SFTPC):c.43-247A>G	noncoding	Benign
8	22162380	G	A	G22162380A	SFTPC	NM_001317778.2(SFTPC):c.43-194G>A	noncoding	Benign
8	22162487	C	T	C22162487T	SFTPC	NM_001317778.2(SFTPC):c.43-87C>T	noncoding	Benign
8	22162553	T	C	T22162553C	SFTPC	NM_001317778.2(SFTPC):c.43-21T>C	noncoding	Benign
8	22162781	C	A	C22162781A	SFTPC	NM_001317778.2(SFTPC):c.201+49C>A	noncoding	Benign
8	22163440	T	C	T22163440C	SFTPC	NM_001317778.2(SFTPC):c.329T>C:p.Leu110Pro	coding	Pathogenic
8	22163617	G	A	G22163617A	SFTPC	NM_001317778.2(SFTPC):c.435+71G>A	noncoding	Benign
8	22163694	C	T	C22163694T	SFTPC	NM_001317778.2(SFTPC):c.435+148C>T	noncoding	Benign
8	22163776	C	T	C22163776T	SFTPC	NM_001317778.2(SFTPC):c.436-125C>T	noncoding	Benign
8	22165407	T	C	T22165407C	BMP1	NM_006129.5(BMP1):c.2T>C:p.Met1Thr	coding	Pathogenic
8	22165438	C	T	C22165438T	BMP1	NM_006129.5(BMP1):c.33C>T:p.Leu11=	coding	Benign/Likely_benign
8	22173456	T	C	T22173456C	BMP1	NM_006129.5(BMP1):c.149-146T>C	noncoding	Benign
8	22173664	G	T	G22173664T	BMP1	NM_006129.5(BMP1):c.211G>T:p.Ala71Ser	coding	Benign
8	22175922	C	A	C22175922A	BMP1	NM_006129.5(BMP1):c.263-221C>A	noncoding	Benign
8	22176102	C	G	C22176102G	BMP1	NM_006129.5(BMP1):c.263-41C>G	noncoding	Benign
8	22176325	A	G	A22176325G	BMP1	NM_006129.5(BMP1):c.433+12A>G	noncoding	Benign/Likely_benign
8	22176446	C	T	C22176446T	BMP1	NM_006129.5(BMP1):c.434-87C>T	noncoding	Benign
8	22176796	C	T	C22176796T	BMP1	NM_006129.5(BMP1):c.551+146C>T	noncoding	Benign
8	22176884	G	A	G22176884A	BMP1	NM_006129.5(BMP1):c.552-77G>A	noncoding	Benign
8	22179809	G	A	G22179809A	BMP1	NM_006129.5(BMP1):c.941G>A:p.Arg314His	coding	Benign/Likely_benign
8	22180223	T	C	T22180223C	BMP1	NM_006129.5(BMP1):c.962-145T>C	noncoding	Benign
8	22180617	G	A	G22180617A	BMP1	NM_006129.5(BMP1):c.1077+134G>A	noncoding	Benign
8	22180627	C	T	C22180627T	BMP1	NM_006129.5(BMP1):c.1077+144C>T	noncoding	Benign
8	22191828	C	T	C22191828T	BMP1	NM_006129.5(BMP1):c.1078-221C>T	noncoding	Benign
8	22191948	G	T	G22191948T	BMP1	NM_006129.5(BMP1):c.1078-101G>T	noncoding	Benign
8	22192260	A	T	A22192260T	BMP1	NM_006129.5(BMP1):c.1180+109A>T	noncoding	Benign
8	22193768	A	C	A22193768C	BMP1	NM_006129.5(BMP1):c.1181-290A>C	noncoding	Benign
8	22194336	A	C	A22194336C	BMP1	NM_006129.5(BMP1):c.1298-109A>C	noncoding	Benign
8	22194602	G	C	G22194602C	BMP1	NM_006129.5(BMP1):c.1443+12G>C	noncoding	Benign/Likely_benign
8	22195381	C	T	C22195381T	BMP1	NM_006129.5(BMP1):c.1640-81C>T	noncoding	Benign
8	22196928	G	T	G22196928T	BMP1	NM_006129.5(BMP1):c.1926+88G>T	noncoding	Benign
8	22196933	C	T	C22196933T	BMP1	NM_006129.5(BMP1):c.1926+93C>T	noncoding	Benign
8	22196999	C	A	C22196999A	BMP1	NM_006129.5(BMP1):c.1926+159C>A	noncoding	Benign
8	22197461	G	A	G22197461A	BMP1	NM_006129.5(BMP1):c.2107+41G>A	noncoding	Benign
8	22200893	C	A	C22200893A	BMP1	NM_006129.5(BMP1):c.2108-910C>A	noncoding	Benign
8	22201391	G	A	G22201391A	BMP1	NM_006129.5(BMP1):c.2108-412G>A	coding	Benign
8	22202148	G	A	G22202148A	BMP1	NM_006129.5(BMP1):c.2233+220G>A	noncoding	Benign
8	22206838	A	C	A22206838C	BMP1	NM_006129.5(BMP1):c.2234-16A>C	noncoding	Benign/Likely_benign
8	22206842	G	A	G22206842A	BMP1	NM_006129.5(BMP1):c.2234-12G>A	noncoding	Benign/Likely_benign
8	22209952	G	C	G22209952C	BMP1	NM_006129.5(BMP1):c.2826+257G>C	noncoding	Benign
8	22209997	C	T	C22209997T	BMP1	NM_006129.5(BMP1):c.2826+302C>T	noncoding	Benign
8	22211590	C	T	C22211590T	BMP1	NM_006129.5(BMP1):c.2827-4C>T	noncoding	Benign/Likely_benign
8	22211873	T	C	T22211873C	BMP1	NM_006129.5(BMP1):c.*145T>C	noncoding	Benign/Likely_benign
8	22404462	G	T	G22404462T	SLC39A14	NM_001128431.4(SLC39A14):c.-15-234G>T	noncoding	Benign
8	22404541	A	G	A22404541G	SLC39A14	NM_001128431.4(SLC39A14):c.-15-155A>G	noncoding	Benign
8	22404585	A	G	A22404585G	SLC39A14	NM_001128431.4(SLC39A14):c.-15-111A>G	noncoding	Benign
8	22404626	C	T	C22404626T	SLC39A14	NM_001128431.4(SLC39A14):c.-15-70C>T	noncoding	Benign
8	22404629	G	A	G22404629A	SLC39A14	NM_001128431.4(SLC39A14):c.-15-67G>A	noncoding	Benign
8	22404670	G	C	G22404670C	SLC39A14	NM_001128431.4(SLC39A14):c.-15-26G>C	noncoding	Benign
8	22404808	T	C	T22404808C	SLC39A14	NM_001128431.4(SLC39A14):c.98T>C:p.Leu33Pro	coding	Benign
8	22404866	C	T	C22404866T	SLC39A14	NM_001128431.4(SLC39A14):c.156C>T:p.Gly52=	coding	Benign
8	22404905	A	G	A22404905G	SLC39A14	NM_001128431.4(SLC39A14):c.195A>G:p.Leu65=	coding	Benign
8	22405117	G	A	G22405117A	SLC39A14	NM_001128431.4(SLC39A14):c.270+137G>A	noncoding	Benign
8	22405141	A	T	A22405141T	SLC39A14	NM_001128431.4(SLC39A14):c.270+161A>T	noncoding	Benign
8	22408435	G	A	G22408435A	SLC39A14	NM_001128431.4(SLC39A14):c.396G>A:p.Ser132=	coding	Benign
8	22408541	G	T	G22408541T	SLC39A14	NM_001128431.4(SLC39A14):c.457+45G>T	noncoding	Benign
8	22408569	T	G	T22408569G	SLC39A14	NM_001128431.4(SLC39A14):c.457+73T>G	noncoding	Benign
8	22408622	G	A	G22408622A	SLC39A14	NM_001128431.4(SLC39A14):c.457+126G>A	noncoding	Benign
8	22408639	C	T	C22408639T	SLC39A14	NM_001128431.4(SLC39A14):c.457+143C>T	noncoding	Benign
8	22409872	A	G	A22409872G	SLC39A14	NM_001128431.4(SLC39A14):c.457+1376A>G	noncoding	Benign
8	22409953	C	T	C22409953T	SLC39A14	NM_015359.6(SLC39A14):c.465C>T:p.Gly155=	coding	Benign
8	22409960	T	A	T22409960A	SLC39A14	NM_015359.6(SLC39A14):c.472T>A:p.Phe158Ile	coding	Benign
8	22411941	T	G	T22411941G	SLC39A14	NM_001128431.4(SLC39A14):c.458-96T>G	noncoding	Benign
8	22414654	C	T	C22414654T	SLC39A14	NM_001128431.4(SLC39A14):c.628-126C>T	noncoding	Benign
8	22414713	A	G	A22414713G	SLC39A14	NM_001128431.4(SLC39A14):c.628-67A>G	noncoding	Benign
8	22415843	G	A	G22415843A	SLC39A14	NM_001128431.4(SLC39A14):c.825G>A:p.Glu275=	coding	Benign
8	22415965	G	C	G22415965C	SLC39A14	NM_001128431.4(SLC39A14):c.939+8G>C	noncoding	Benign/Likely_benign
8	22416174	T	C	T22416174C	SLC39A14	NM_001128431.4(SLC39A14):c.1041T>C:p.His347=	coding	Benign
8	22416316	T	C	T22416316C	SLC39A14	NM_001128431.4(SLC39A14):c.1147+36T>C	noncoding	Benign
8	22417854	A	G	A22417854G	SLC39A14	NM_001128431.4(SLC39A14):c.1332+19A>G	noncoding	Benign
8	22417906	T	C	T22417906C	SLC39A14	NM_001128431.4(SLC39A14):c.1332+71T>C	noncoding	Benign
8	22419527	G	A	G22419527A	SLC39A14	NM_001128431.4(SLC39A14):c.1333-25G>A	noncoding	Benign
8	22419555	C	T	C22419555T	SLC39A14	NM_001128431.4(SLC39A14):c.1336C>T:p.Pro446Ser	coding	Pathogenic
8	22540949	G	A	G22540949A	PPP3CC	NM_005605.5(PPP3CC):c.*147G>A	noncoding	Benign
8	22691277	G	T	G22691277T	EGR3	NM_004430.3(EGR3):c.360C>A:p.Leu120=	coding	Benign
8	22994530	C	T	C22994530T	RHOBTB2	NM_001160036.2(RHOBTB2):c.-23-31C>T	noncoding	Benign
8	22994583	G	A	G22994583A	RHOBTB2	NM_001160036.2(RHOBTB2):c.-1G>A	noncoding	Benign
8	22995709	C	G	C22995709G	RHOBTB2	NM_001160036.2(RHOBTB2):c.56+1070C>G	noncoding	Benign
8	23004414	C	T	C23004414T	RHOBTB2	NM_015178.3(RHOBTB2):c.-10-11C>T	noncoding	Benign
8	23004602	C	T	C23004602T	RHOBTB2	NM_015178.3(RHOBTB2):c.168C>T:p.Ile56=	coding	Benign
8	23005250	T	C	T23005250C	RHOBTB2	NM_015178.3(RHOBTB2):c.193-122T>C	noncoding	Benign
8	23005364	G	A	G23005364A	RHOBTB2	NM_015178.3(RHOBTB2):c.193-8G>A	noncoding	Benign
8	23005487	C	T	C23005487T	RHOBTB2	NM_015178.3(RHOBTB2):c.296+12C>T	noncoding	Benign
8	23005491	A	G	A23005491G	RHOBTB2	NM_015178.3(RHOBTB2):c.296+16A>G	noncoding	Benign
8	23005495	G	A	G23005495A	RHOBTB2	NM_015178.3(RHOBTB2):c.296+20G>A	noncoding	Benign
8	23005504	G	T	G23005504T	RHOBTB2	NM_015178.3(RHOBTB2):c.296+29G>T	noncoding	Benign
8	23005678	C	T	C23005678T	RHOBTB2	NM_015178.3(RHOBTB2):c.296+203C>T	noncoding	Benign
8	23006860	A	T	A23006860T	RHOBTB2	NM_015178.3(RHOBTB2):c.615A>T:p.Arg205=	coding	Benign
8	23006974	C	T	C23006974T	RHOBTB2	NM_015178.3(RHOBTB2):c.729C>T:p.Ile243=	coding	Benign
8	23006975	G	A	G23006975A	RHOBTB2	NM_015178.3(RHOBTB2):c.730G>A:p.Val244Met	coding	Benign
8	23007034	G	A	G23007034A	RHOBTB2	NM_015178.3(RHOBTB2):c.789G>A:p.Pro263=	coding	Benign
8	23007040	C	T	C23007040T	RHOBTB2	NM_015178.3(RHOBTB2):c.795C>T:p.Cys265=	coding	Benign
8	23007041	G	A	G23007041A	RHOBTB2	NM_015178.3(RHOBTB2):c.796G>A:p.Ala266Thr	coding	Benign
8	23007109	T	C	T23007109C	RHOBTB2	NM_015178.3(RHOBTB2):c.864T>C:p.Ser288=	coding	Benign
8	23007219	A	G	A23007219G	RHOBTB2	NM_015178.3(RHOBTB2):c.974A>G:p.Gln325Arg	coding	Benign
8	23007367	C	T	C23007367T	RHOBTB2	NM_015178.3(RHOBTB2):c.1122C>T:p.Asn374=	coding	Benign
8	23007425	G	A	G23007425A	RHOBTB2	NM_015178.3(RHOBTB2):c.1180G>A:p.Val394Met	coding	Benign
8	23007592	C	G	C23007592G	RHOBTB2	NM_015178.3(RHOBTB2):c.1347C>G:p.Ala449=	coding	Benign
8	23007656	G	A	G23007656A	RHOBTB2	NM_015178.3(RHOBTB2):c.1411G>A:p.Glu471Lys	coding	Pathogenic
8	23007694	C	T	C23007694T	RHOBTB2	NM_015178.3(RHOBTB2):c.1449C>T:p.His483=	coding	Benign
8	23007807	T	G	T23007807G	RHOBTB2	NM_015178.3(RHOBTB2):c.1501+61T>G	noncoding	Benign
8	23008132	G	C	G23008132C	RHOBTB2	NM_015178.3(RHOBTB2):c.1620+21G>C	noncoding	Benign
8	23010618	C	T	C23010618T	RHOBTB2	NM_015178.3(RHOBTB2):c.1701C>T:p.Pro567=	coding	Benign
8	23010619	G	A	G23010619A	RHOBTB2	NM_015178.3(RHOBTB2):c.1702G>A:p.Asp568Asn	coding	Benign
8	23010741	C	G	C23010741G	RHOBTB2	NM_015178.3(RHOBTB2):c.1771+53C>G	noncoding	Benign
8	23014544	G	T	G23014544T	RHOBTB2	NM_015178.3(RHOBTB2):c.1772-146G>T	noncoding	Benign
8	23014677	G	A	G23014677A	RHOBTB2	NM_015178.3(RHOBTB2):c.1772-13G>A	noncoding	Benign
8	23014708	G	C	G23014708C	RHOBTB2	NM_015178.3(RHOBTB2):c.1790G>C:p.Gly597Ala	coding	Benign
8	23014720	C	A	C23014720A	RHOBTB2	NM_015178.3(RHOBTB2):c.1802C>A:p.Ala601Glu	coding	Benign
8	23015491	G	A	G23015491A	RHOBTB2	NM_015178.3(RHOBTB2):c.1861-147G>A	noncoding	Benign
8	23015594	C	A	C23015594A	RHOBTB2	NM_015178.3(RHOBTB2):c.1861-44C>A	noncoding	Benign
8	23017361	C	A	C23017361A	RHOBTB2	NM_015178.3(RHOBTB2):c.2076C>A:p.His692Gln	coding	Benign
8	23017366	A	G	A23017366G	RHOBTB2	NM_015178.3(RHOBTB2):c.2081A>G:p.Lys694Arg	coding	Benign
8	23017379	A	G	A23017379G	RHOBTB2	NM_015178.3(RHOBTB2):c.2094A>G:p.Lys698=	coding	Benign
8	23017385	T	C	T23017385C	RHOBTB2	NM_015178.3(RHOBTB2):c.2100T>C:p.Arg700=	coding	Benign
8	23017414	C	T	C23017414T	RHOBTB2	NM_015178.3(RHOBTB2):c.2129C>T:p.Pro710Leu	coding	Benign
8	23200675	T	C	T23200675C	TNFRSF10A	NM_003844.4(TNFRSF10A):c.703+12A>G	noncoding	Benign
8	23200707	T	G	T23200707G	TNFRSF10A	NM_003844.4(TNFRSF10A):c.683A>C:p.Glu228Ala	coding	Benign
8	23702248	T	C	T23702248C	NKX2-6	NM_001136271.3(NKX2-6):c.*203A>G	noncoding	Benign
8	23703135	G	A	G23703135A	NKX2-6	NM_001136271.3(NKX2-6):c.275-53C>T	noncoding	Benign
8	23703319	A	C	A23703319C	NKX2-6	NM_001136271.3(NKX2-6):c.275-237T>G	noncoding	Benign
8	23703332	C	G	C23703332G	NKX2-6	NM_001136271.3(NKX2-6):c.275-250G>C	noncoding	Benign
8	23703383	G	A	G23703383A	NKX2-6	NM_001136271.3(NKX2-6):c.275-301C>T	noncoding	Benign
8	23706120	C	A	C23706120A	NKX2-6	NM_001136271.3(NKX2-6):c.274+205G>T	noncoding	Benign
8	23706302	G	A	G23706302A	NKX2-6	NM_001136271.3(NKX2-6):c.274+23C>T	noncoding	Benign
8	23706395	A	G	A23706395G	NKX2-6	NM_001136271.3(NKX2-6):c.204T>C:p.Asp68=	coding	Benign
8	23706742	C	T	C23706742T	NKX2-6	NM_001136271.3(NKX2-6):c.-144G>A	noncoding	Benign
8	24953770	G	A	G24953770A	NEFL	NM_006158.5(NEFL):c.1195C>T:p.Arg399Ter	coding	Pathogenic/Likely_pathogenic
8	24953786	C	G	C24953786G	NEFL	NM_006158.5(NEFL):c.1179G>C:p.Leu393Phe	coding	Pathogenic/Likely_pathogenic
8	24954251	G	A	G24954251A	NEFL	NM_006158.5(NEFL):c.1099C>T:p.Arg367Ter	coding	Pathogenic
8	24954291	T	C	T24954291C	NEFL	NM_006158.5(NEFL):c.1059A>G:p.Lys353=	coding	Benign
8	24955452	T	A	T24955452A	NEFL	NM_006158.5(NEFL):c.1044+20A>T	noncoding	Benign/Likely_benign
8	24955651	C	A	C24955651A	NEFL	NM_006158.5(NEFL):c.865G>T:p.Glu289Ter	coding	Pathogenic/Likely_pathogenic
8	24955721	G	C	G24955721C	NEFL	NM_006158.5(NEFL):c.795C>G:p.Tyr265Ter	coding	Pathogenic
8	24956099	G	C	G24956099C	NEFL	NM_006158.5(NEFL):c.417C>G:p.Tyr139Ter	coding	Pathogenic
8	24956248	C	T	C24956248T	NEFL	NM_006158.5(NEFL):c.268G>A:p.Glu90Lys	coding	Pathogenic
8	24956462	G	C	G24956462C	NEFL	NM_006158.5(NEFL):c.54C>G:p.Tyr18Ter	coding	Pathogenic
8	24956498	G	C	G24956498C	NEFL	NM_006158.5(NEFL):c.18C>G:p.Tyr6Ter	coding	Pathogenic
8	25423105	T	C	T25423105C	GNRH1	NM_001083111.2(GNRH1):c.141+85A>G	noncoding	Benign
8	25423150	A	C	A25423150C	GNRH1	NM_001083111.2(GNRH1):c.141+40T>G	noncoding	Benign
8	25423239	C	T	C25423239T	GNRH1	NM_001083111.2(GNRH1):c.92G>A:p.Arg31His	coding	Pathogenic
8	25425076	T	C	T25425076C	GNRH1	Single_allele	noncoding	Benign
8	25425333	A	G	A25425333G	GNRH1	Single_allele	noncoding	Benign
8	26293751	G	A	G26293751A	PPP2R2A	NM_002717.4(PPP2R2A):c.82+11G>A	noncoding	Benign
8	26293766	T	G	T26293766G	PPP2R2A	NM_002717.4(PPP2R2A):c.82+26T>G	noncoding	Benign
8	26360340	A	C	A26360340C	PPP2R2A	NM_002717.4(PPP2R2A):c.459+59A>C	noncoding	Benign
8	26370083	A	C	A26370083C	PPP2R2A	NM_002717.4(PPP2R2A):c.1065-51A>C	noncoding	Benign
8	26370124	A	G	A26370124G	PPP2R2A	NM_002717.4(PPP2R2A):c.1065-10A>G	noncoding	Benign
8	26370332	C	T	C26370332T	PPP2R2A	NM_002717.4(PPP2R2A):c.1263C>T:p.His421=	coding	Benign
8	27463343	C	T	C27463343T	CHRNA2	NM_000742.4(CHRNA2):c.1100G>A:p.Arg367Gln	coding	Benign/Likely_benign
8	27463344	G	A	G27463344A	CHRNA2	NM_000742.4(CHRNA2):c.1099C>T:p.Arg367Trp	coding	Benign/Likely_benign
8	27463712	T	C	T27463712C	CHRNA2	NM_000742.4(CHRNA2):c.731A>G:p.Lys244Arg	coding	Benign/Likely_benign
8	27463733	G	T	G27463733T	CHRNA2	NM_000742.4(CHRNA2):c.710C>A:p.Thr237Lys	coding	Benign/Likely_benign
8	27464288	T	C	T27464288C	CHRNA2	NM_000742.4(CHRNA2):c.450-295A>G	noncoding	Benign
8	27467331	C	A	C27467331A	CHRNA2	NM_000742.4(CHRNA2):c.347G>T:p.Ser116Ile	coding	Benign/Likely_benign
8	27469733	C	T	C27469733T	CHRNA2	NM_000742.4(CHRNA2):c.294+28G>A	noncoding	Benign/Likely_benign
8	27471190	C	T	C27471190T	CHRNA2	NM_000742.4(CHRNA2):c.-132G>A	noncoding	Benign
8	27471213	G	A	G27471213A	CHRNA2	NM_000742.4(CHRNA2):c.-136-19C>T	noncoding	Benign
8	27478725	C	T	C27478725T	CHRNA2	NM_000742.4(CHRNA2):c.-137+99G>A	noncoding	Benign
8	27775312	C	T	C27775312T	ESCO2	NM_001017420.3(ESCO2):c.-16-187C>T	noncoding	Benign
8	27775350	T	G	T27775350G	ESCO2	NM_001017420.3(ESCO2):c.-16-149T>G	noncoding	Benign
8	27775720	G	A	G27775720A	ESCO2	NM_001017420.3(ESCO2):c.53+153G>A	noncoding	Benign
8	27775871	C	T	C27775871T	ESCO2	NM_001017420.3(ESCO2):c.53+304C>T	noncoding	Benign
8	27776731	G	C	G27776731C	ESCO2	NM_001017420.3(ESCO2):c.423G>C:p.Gln141His	coding	Benign
8	27776859	C	G	C27776859G	ESCO2	NM_001017420.3(ESCO2):c.551C>G:p.Ser184Ter	coding	Pathogenic
8	27777059	G	T	G27777059T	ESCO2	NM_001017420.3(ESCO2):c.751G>T:p.Glu251Ter	coding	Pathogenic
8	27777083	C	T	C27777083T	ESCO2	NM_001017420.3(ESCO2):c.775C>T:p.Gln259Ter	coding	Pathogenic
8	27779991	G	A	G27779991A	ESCO2	NM_001017420.3(ESCO2):c.862-183G>A	noncoding	Benign
8	27783949	A	G	A27783949G	ESCO2	NM_001017420.3(ESCO2):c.956-51A>G	noncoding	Benign
8	27788187	C	T	C27788187T	ESCO2	NM_001017420.3(ESCO2):c.1131+185C>T	noncoding	Benign
8	27788628	A	G	A27788628G	ESCO2	NM_001017420.3(ESCO2):c.1132-219A>G	noncoding	Benign
8	27789030	A	T	A27789030T	ESCO2	NM_001017420.3(ESCO2):c.1263+52A>T	noncoding	Benign
8	27792298	G	A	G27792298A	ESCO2	NM_001017420.3(ESCO2):c.1353+246G>A	noncoding	Benign
8	27792299	A	G	A27792299G	ESCO2	NM_001017420.3(ESCO2):c.1353+247A>G	noncoding	Benign
8	27792911	C	T	C27792911T	ESCO2	NM_001017420.3(ESCO2):c.1497+100C>T	noncoding	Benign
8	27799697	C	T	C27799697T	ESCO2	NM_001017420.3(ESCO2):c.1654C>T:p.Arg552Ter	coding	Pathogenic
8	27799717	G	A	G27799717A	ESCO2	NM_001017420.3(ESCO2):c.1673+1G>A	coding	Pathogenic
8	27799832	T	C	T27799832C	ESCO2	NM_001017420.3(ESCO2):c.1673+116T>C	noncoding	Benign
8	27799942	A	G	A27799942G	ESCO2	NM_001017420.3(ESCO2):c.1673+226A>G	noncoding	Benign
8	27803302	T	C	T27803302C	ESCO2	NM_001017420.3(ESCO2):c.1674-4T>C	noncoding	Benign
8	28716572	G	A	G28716572A	EXTL3	NM_001440.4(EXTL3):c.513G>A:p.Pro171=	coding	Benign
8	28717012	C	T	C28717012T	EXTL3	NM_001440.4(EXTL3):c.953C>T:p.Pro318Leu	coding	Pathogenic/Likely_pathogenic
8	28717286	G	A	G28717286A	EXTL3	NM_001440.4(EXTL3):c.1227G>A:p.Pro409=	coding	Benign
8	28717532	C	T	C28717532T	EXTL3	NM_001440.4(EXTL3):c.1473C>T:p.Thr491=	coding	Benign
8	28718220	C	T	C28718220T	EXTL3	NM_001440.4(EXTL3):c.2148+13C>T	noncoding	Benign
8	28750755	C	T	C28750755T	EXTL3	NM_001440.4(EXTL3):c.2649C>T:p.Phe883=	coding	Benign
8	30579262	C	T	C30579262T	GTF2E2	NM_002095.6(GTF2E2):c.760-225G>A	noncoding	Benign
8	30579335	C	T	C30579335T	GTF2E2	NM_002095.6(GTF2E2):c.760-298G>A	noncoding	Benign
8	30580122	C	T	C30580122T	GTF2E2	NM_002095.6(GTF2E2):c.759+159G>A	noncoding	Benign
8	30607275	T	A	T30607275A	GTF2E2	NM_002095.6(GTF2E2):c.550-125A>T	noncoding	Benign
8	30612197	T	C	T30612197C	GTF2E2	NM_002095.6(GTF2E2):c.549+102A>G	noncoding	Benign
8	30612288	A	C	A30612288C	GTF2E2	NM_002095.6(GTF2E2):c.549+11T>G	noncoding	Benign
8	30635092	A	G	A30635092G	GTF2E2	NM_002095.6(GTF2E2):c.198T>C:p.Ala66=	coding	Benign
8	30653455	C	T	C30653455T	GTF2E2	NM_002095.6(GTF2E2):c.144G>A:p.Ser48=	coding	Benign
8	30653783	C	T	C30653783T	GTF2E2	NM_002095.6(GTF2E2):c.-4-181G>A	noncoding	Benign
8	30682106	T	G	T30682106G	GSR	NM_000637.5(GSR):c.1154-45A>C	noncoding	Benign
8	30684172	T	C	T30684172C	GSR	NM_000637.5(GSR):c.1069A>G:p.Ile357Val	coding	Benign/Likely_benign
8	30689119	T	C	T30689119C	GSR	NM_000637.5(GSR):c.1041+42A>G	noncoding	Benign
8	30689449	G	C	G30689449C	GSR	NM_000637.5(GSR):c.883-130C>G	noncoding	Benign
8	30703370	C	T	C30703370T	GSR	NM_000637.5(GSR):c.493-130G>A	noncoding	Benign
8	30708367	A	G	A30708367G	GSR	NM_000637.5(GSR):c.423-226T>C	noncoding	Benign
8	30708377	G	A	G30708377A	GSR	NM_000637.5(GSR):c.423-236C>T	noncoding	Benign
8	30708428	C	T	C30708428T	GSR	NM_000637.5(GSR):c.423-287G>A	noncoding	Benign
8	30710011	C	T	C30710011T	GSR	NM_000637.5(GSR):c.334-109G>A	noncoding	Benign
8	30712135	C	T	C30712135T	GSR	NM_000637.5(GSR):c.307-47G>A	noncoding	Benign
8	30712309	C	T	C30712309T	GSR	NM_000637.5(GSR):c.307-221G>A	noncoding	Benign
8	30712310	G	A	G30712310A	GSR	NM_000637.5(GSR):c.307-222C>T	noncoding	Benign
8	30727365	C	T	C30727365T	GSR	NM_000637.5(GSR):c.306+165G>A	noncoding	Benign
8	30727406	G	A	G30727406A	GSR	NM_000637.5(GSR):c.306+124C>T	noncoding	Benign
8	30727427	C	G	C30727427G	GSR	NM_000637.5(GSR):c.306+103G>C	noncoding	Benign
8	31058111	G	A	G31058111A	WRN	NM_000553.6(WRN):c.-76-261G>A	noncoding	Benign
8	31058158	A	C	A31058158C	WRN	NM_000553.6(WRN):c.-76-214A>C	noncoding	Benign
8	31058478	C	T	C31058478T	WRN	NM_000553.6(WRN):c.31C>T:p.Gln11Ter	coding	Pathogenic
8	31058569	T	C	T31058569C	WRN	NM_000553.6(WRN):c.96+26T>C	noncoding	Benign
8	31059364	G	A	G31059364A	WRN	NM_000553.6(WRN):c.209+99G>A	noncoding	Benign
8	31059371	A	G	A31059371G	WRN	NM_000553.6(WRN):c.209+106A>G	noncoding	Benign
8	31064237	A	G	A31064237G	WRN	NM_000553.6(WRN):c.210-52A>G	noncoding	Benign
8	31064272	T	G	T31064272G	WRN	NM_000553.6(WRN):c.210-17T>G	noncoding	Benign
8	31064333	G	A	G31064333A	WRN	NM_000553.6(WRN):c.254G>A:p.Trp85Ter	coding	Pathogenic
8	31064334	G	A	G31064334A	WRN	NM_000553.6(WRN):c.255G>A:p.Trp85Ter	coding	Pathogenic
8	31064610	A	G	A31064610G	WRN	NM_000553.6(WRN):c.355+176A>G	noncoding	Benign
8	31064830	C	T	C31064830T	WRN	NM_000553.6(WRN):c.356-85C>T	noncoding	Benign
8	31067099	A	T	A31067099T	WRN	NM_000553.6(WRN):c.571A>T:p.Lys191Ter	coding	Pathogenic
8	31067128	G	A	G31067128A	WRN	NM_000553.6(WRN):c.600G>A:p.Trp200Ter	coding	Pathogenic
8	31068235	T	A	T31068235A	WRN	NM_000553.6(WRN):c.655-23T>A	noncoding	Benign
8	31068257	G	A	G31068257A	WRN	NM_000553.6(WRN):c.655-1G>A	noncoding	Pathogenic
8	31068327	G	T	G31068327T	WRN	NM_000553.6(WRN):c.724G>T:p.Glu242Ter	coding	Pathogenic
8	31076202	A	T	A31076202T	WRN	NM_000553.6(WRN):c.754A>T:p.Lys252Ter	coding	Pathogenic
8	31076343	C	T	C31076343T	WRN	NM_000553.6(WRN):c.839+56C>T	noncoding	Benign
8	31080772	G	C	G31080772C	WRN	NM_000553.6(WRN):c.840-95G>C	noncoding	Benign
8	31081012	C	T	C31081012T	WRN	NM_000553.6(WRN):c.985C>T:p.Gln329Ter	coding	Pathogenic
8	31081255	C	T	C31081255T	WRN	NM_000553.6(WRN):c.1228C>T:p.Gln410Ter	coding	Pathogenic
8	31081258	G	T	G31081258T	WRN	NM_000553.6(WRN):c.1231G>T:p.Glu411Ter	coding	Pathogenic
8	31083801	T	C	T31083801C	WRN	NM_000553.6(WRN):c.1350+22T>C	noncoding	Benign
8	31087806	G	T	G31087806T	WRN	NM_000553.6(WRN):c.1462G>T:p.Glu488Ter	coding	Pathogenic
8	31088942	C	G	C31088942G	WRN	NM_000553.6(WRN):c.1629C>G:p.Tyr543Ter	coding	Pathogenic
8	31090556	T	A	T31090556A	WRN	NM_000553.6(WRN):c.1720+24T>A	noncoding	Benign
8	31090648	C	A	C31090648A	WRN	NM_000553.6(WRN):c.1720+116C>A	noncoding	Benign
8	31090839	G	T	G31090839T	WRN	NM_000553.6(WRN):c.1726G>T:p.Gly576Ter	coding	Pathogenic
8	31092189	T	C	T31092189C	WRN	NM_000553.6(WRN):c.1898+291T>C	noncoding	Benign
8	31096742	C	T	C31096742T	WRN	NM_000553.6(WRN):c.1899-26C>T	noncoding	Benign
8	31096749	C	T	C31096749T	WRN	NM_000553.6(WRN):c.1899-19C>T	noncoding	Benign
8	31096758	G	T	G31096758T	WRN	NM_000553.6(WRN):c.1899-10G>T	noncoding	Benign/Likely_benign
8	31096789	C	G	C31096789G	WRN	NM_000553.6(WRN):c.1920C>G:p.Tyr640Ter	coding	Pathogenic
8	31096993	C	G	C31096993G	WRN	NM_000553.6(WRN):c.1981+143C>G	noncoding	Benign
8	31100716	A	G	A31100716G	WRN	NM_000553.6(WRN):c.1982-133A>G	noncoding	Benign
8	31100975	A	G	A31100975G	WRN	NM_000553.6(WRN):c.2088+20A>G	noncoding	Benign
8	31100981	C	T	C31100981T	WRN	NM_000553.6(WRN):c.2088+26C>T	noncoding	Benign
8	31100988	A	G	A31100988G	WRN	NM_000553.6(WRN):c.2088+33A>G	noncoding	Benign
8	31101076	A	T	A31101076T	WRN	NM_000553.6(WRN):c.2088+121A>T	noncoding	Benign
8	31108321	T	C	T31108321C	WRN	NM_000553.6(WRN):c.2089-3294T>C	noncoding	Benign
8	31108447	C	T	C31108447T	WRN	NM_000553.6(WRN):c.2089-3168C>T	noncoding	Benign
8	31108475	T	A	T31108475A	WRN	NM_000553.6(WRN):c.2089-3140T>A	noncoding	Benign
8	31111433	T	A	T31111433A	WRN	NM_000553.6(WRN):c.2089-182T>A	noncoding	Benign
8	31111880	C	T	C31111880T	WRN	NM_000553.6(WRN):c.2273+81C>T	noncoding	Benign
8	31116126	C	T	C31116126T	WRN	NM_000553.6(WRN):c.2274-228C>T	noncoding	Benign
8	31116295	C	T	C31116295T	WRN	NM_000553.6(WRN):c.2274-59C>T	noncoding	Benign
8	31116324	G	A	G31116324A	WRN	NM_000553.6(WRN):c.2274-30G>A	noncoding	Benign
8	31116579	A	G	A31116579G	WRN	NM_000553.6(WRN):c.2448+51A>G	noncoding	Benign
8	31116832	G	A	G31116832A	WRN	NM_000553.6(WRN):c.2448+304G>A	noncoding	Benign
8	31119930	T	C	T31119930C	WRN	NM_000553.6(WRN):c.2449-313T>C	noncoding	Benign
8	31119974	C	T	C31119974T	WRN	NM_000553.6(WRN):c.2449-269C>T	noncoding	Benign
8	31120138	C	T	C31120138T	WRN	NM_000553.6(WRN):c.2449-105C>T	noncoding	Benign
8	31120180	A	G	A31120180G	WRN	NM_000553.6(WRN):c.2449-63A>G	noncoding	Benign
8	31120201	T	C	T31120201C	WRN	NM_000553.6(WRN):c.2449-42T>C	noncoding	Benign
8	31120297	C	T	C31120297T	WRN	NM_000553.6(WRN):c.2503C>T:p.Gln835Ter	coding	Pathogenic
8	31120342	C	T	C31120342T	WRN	NM_000553.6(WRN):c.2548C>T:p.Gln850Ter	coding	Pathogenic
8	31120345	G	T	G31120345T	WRN	NM_000553.6(WRN):c.2551G>T:p.Glu851Ter	coding	Pathogenic
8	31120435	T	A	T31120435A	WRN	NM_000553.6(WRN):c.2630+11T>A	noncoding	Benign
8	31124455	G	T	G31124455T	WRN	NM_000553.6(WRN):c.2631-67G>T	noncoding	Benign
8	31124505	A	C	A31124505C	WRN	NM_000553.6(WRN):c.2631-17A>C	noncoding	Benign/Likely_benign
8	31124642	A	G	A31124642G	WRN	NM_000553.6(WRN):c.2732+19A>G	noncoding	Benign/Likely_benign
8	31124687	A	G	A31124687G	WRN	NM_000553.6(WRN):c.2732+64A>G	noncoding	Benign
8	31125036	G	C	G31125036C	WRN	NM_000553.6(WRN):c.2825+36G>C	noncoding	Benign
8	31132131	T	C	T31132131C	WRN	NM_000553.6(WRN):c.2826-234T>C	noncoding	Benign
8	31132174	C	T	C31132174T	WRN	NM_000553.6(WRN):c.2826-191C>T	noncoding	Benign
8	31132394	C	G	C31132394G	WRN	NM_000553.6(WRN):c.2855C>G:p.Ser952Ter	coding	Pathogenic
8	31132423	C	T	C31132423T	WRN	NM_000553.6(WRN):c.2884C>T:p.Gln962Ter	coding	Pathogenic
8	31132594	G	A	G31132594A	WRN	NM_000553.6(WRN):c.2967+88G>A	noncoding	Benign
8	31141162	C	T	C31141162T	WRN	NM_000553.6(WRN):c.2968-268C>T	noncoding	Benign
8	31141585	C	A	C31141585A	WRN	NM_000553.6(WRN):c.3123C>A:p.Cys1041Ter	coding	Pathogenic
8	31141692	G	A	G31141692A	WRN	NM_000553.6(WRN):c.3150G>A:p.Trp1050Ter	coding	Pathogenic
8	31141717	C	T	C31141717T	WRN	NM_000553.6(WRN):c.3175C>T:p.Gln1059Ter	coding	Pathogenic
8	31141878	A	G	A31141878G	WRN	NM_000553.6(WRN):c.3233+103A>G	noncoding	Benign
8	31141912	T	C	T31141912C	WRN	NM_000553.6(WRN):c.3233+137T>C	noncoding	Benign
8	31142714	G	T	G31142714T	WRN	NM_000553.6(WRN):c.3309+13G>T	noncoding	Benign
8	31142727	T	C	T31142727C	WRN	NM_000553.6(WRN):c.3309+26T>C	noncoding	Benign
8	31143344	G	A	G31143344A	WRN	NM_000553.6(WRN):c.3310-206G>A	noncoding	Benign
8	31143576	T	G	T31143576G	WRN	NM_000553.6(WRN):c.3336T>G:p.Tyr1112Ter	coding	Pathogenic
8	31146927	T	C	T31146927C	WRN	NM_000553.6(WRN):c.3384-126T>C	noncoding	Benign
8	31146949	T	A	T31146949A	WRN	NM_000553.6(WRN):c.3384-104T>A	noncoding	Benign
8	31147093	C	T	C31147093T	WRN	NM_000553.6(WRN):c.3424C>T:p.Gln1142Ter	coding	Pathogenic
8	31147495	G	A	G31147495A	WRN	NM_000553.6(WRN):c.3572+19G>A	noncoding	Benign
8	31147780	T	A	T31147780A	WRN	NM_000553.6(WRN):c.3572+304T>A	noncoding	Benign
8	31150395	T	A	T31150395A	WRN	NM_000553.6(WRN):c.3627T>A:p.Ala1209=	coding	Benign/Likely_benign
8	31154705	C	T	C31154705T	WRN	NM_000553.6(WRN):c.3769C>T:p.Gln1257Ter	coding	Pathogenic
8	31155010	G	A	G31155010A	WRN	NM_000553.6(WRN):c.3819+255G>A	noncoding	Benign
8	31166927	C	T	C31166927T	WRN	NM_000553.6(WRN):c.3983-95C>T	noncoding	Benign
8	31172759	A	C	A31172759C	WRN	NM_000553.6(WRN):c.4192-236A>C	noncoding	Benign
8	31172956	T	C	T31172956C	WRN	NM_000553.6(WRN):c.4192-39T>C	noncoding	Benign
8	31173051	T	C	T31173051C	WRN	NM_000553.6(WRN):c.4248T>C:p.Asp1416=	coding	Benign
8	31640156	G	A	G31640156A	NRG1	NM_001159995.3(NRG1):c.37+725G>A	coding	Benign
8	32754452	G	T	G32754452T	NRG1	NM_013964.5(NRG1):c.781G>T:p.Val261Leu	coding	Benign
8	32760195	C	T	C32760195T	NRG1	NM_013964.5(NRG1):c.1062-5C>T	noncoding	Benign
8	32764112	C	T	C32764112T	NRG1	NM_013964.5(NRG1):c.1633C>T:p.Arg545Trp	coding	Benign/Likely_benign
8	33512426	T	C	T33512426C	TTI2	NM_001102401.4(TTI2):c.188A>G:p.Glu63Gly	coding	Benign
8	33512476	A	G	A33512476G	TTI2	NM_001102401.4(TTI2):c.138T>C:p.Asn46=	coding	Benign
8	33512743	G	A	G33512743A	TTI2	NM_001102401.4(TTI2):c.-99-31C>T	noncoding	Benign
8	37738123	A	G	A37738123G	ERLIN2	NM_007175.8(ERLIN2):c.107+94A>G	noncoding	Benign
8	37741592	C	G	C37741592G	ERLIN2	NM_007175.8(ERLIN2):c.190-180C>G	noncoding	Benign
8	37744639	G	T	G37744639T	ERLIN2	NM_007175.8(ERLIN2):c.367G>T:p.Glu123Ter	coding	Pathogenic
8	37744646	A	G	A37744646G	ERLIN2	NM_007175.8(ERLIN2):c.374A>G:p.Asn125Ser	coding	Pathogenic
8	37744875	T	A	T37744875A	ERLIN2	NM_007175.8(ERLIN2):c.424+179T>A	noncoding	Benign
8	37749564	A	G	A37749564G	ERLIN2	NM_007175.8(ERLIN2):c.430A>G:p.Ile144Val	coding	Pathogenic
8	37750495	G	A	G37750495A	ERLIN2	NM_007175.8(ERLIN2):c.649+9G>A	noncoding	Benign
8	37753509	A	G	A37753509G	ERLIN2	NM_007175.8(ERLIN2):c.799A>G:p.Lys267Glu	coding	Pathogenic
8	37753529	G	A	G37753529A	ERLIN2	NM_007175.8(ERLIN2):c.819G>A:p.Lys273=	coding	Pathogenic
8	37753541	G	A	G37753541A	ERLIN2	NM_007175.8(ERLIN2):c.819+12G>A	noncoding	Benign
8	37753972	A	G	A37753972G	ERLIN2	NM_007175.8(ERLIN2):c.877A>G:p.Ser293Gly	coding	Pathogenic
8	37754189	C	G	C37754189G	ERLIN2	NM_007175.8(ERLIN2):c.*74C>G	noncoding	Benign
8	37762558	A	G	A37762558G	PLPBP	NM_007198.2(PLPBP):c.-102G=	noncoding	Benign
8	37765714	C	T	C37765714T	PLPBP	NM_007198.4(PLPBP):c.211C>T:p.Gln71Ter	coding	Pathogenic
8	37775592	T	C	T37775592C	PLPBP	NM_007198.4(PLPBP):c.597+111T>C	noncoding	Benign
8	37775854	T	A	T37775854A	PLPBP	NM_007198.4(PLPBP):c.598-64T>A	noncoding	Benign
8	37778131	A	G	A37778131G	PLPBP	NM_007198.4(PLPBP):c.*27A>G	noncoding	Benign
8	37964335	T	C	T37964335C	ADRB3	NM_000025.3(ADRB3):c.1206-96A>G	noncoding	Benign
8	37965251	C	A	C37965251A	ADRB3	NM_000025.3(ADRB3):c.1205+14G>T	noncoding	Benign
8	37966280	A	G	A37966280G	ADRB3	NM_000025.3(ADRB3):c.190T>C:p.Trp64Arg	coding	Benign
8	38144317	G	A	G38144317A	STAR	NM_000349.3(STAR):c.814C>T:p.Arg272Cys	coding	Pathogenic/Likely_pathogenic
8	38144352	A	G	A38144352G	STAR	NM_000349.3(STAR):c.779T>C:p.Leu260Pro	coding	Pathogenic/Likely_pathogenic
8	38146215	G	T	G38146215T	STAR	NM_000349.3(STAR):c.466-68C>A	noncoding	Benign
8	38146287	A	G	A38146287G	STAR	NM_000349.3(STAR):c.465+2T>C	noncoding	Pathogenic
8	38146313	C	T	C38146313T	STAR	NM_000349.3(STAR):c.441G>A:p.Trp147Ter	coding	Pathogenic
8	38146435	T	A	T38146435A	STAR	NM_000349.3(STAR):c.319A>T:p.Lys107Ter	coding	Pathogenic
8	38148277	G	A	G38148277A	STAR	NM_000349.3(STAR):c.229C>T:p.Gln77Ter	coding	Pathogenic/Likely_pathogenic
8	38148675	C	T	C38148675T	STAR	NM_000349.3(STAR):c.144G>A:p.Trp48Ter	coding	Pathogenic
8	38148743	G	A	G38148743A	STAR	NM_000349.3(STAR):c.76C>T:p.Gln26Ter	coding	Pathogenic
8	38148818	C	G	C38148818G	STAR	NM_000349.3(STAR):c.65-64G>C	noncoding	Benign
8	38150990	G	A	G38150990A	STAR	NM_000349.2(STAR):c.-172C>T	noncoding	Benign/Likely_benign
8	38245721	T	A	T38245721A	DDHD2	NM_015214.3(DDHD2):c.849-21T>A	noncoding	Benign
8	38251915	A	G	A38251915G	DDHD2	NM_015214.3(DDHD2):c.1348A>G:p.Ile450Val	coding	Benign
8	38252199	G	A	G38252199A	DDHD2	NM_015214.3(DDHD2):c.1529G>A:p.Gly510Glu	coding	Pathogenic
8	38252697	T	C	T38252697C	DDHD2	NM_015214.3(DDHD2):c.1618-25T>C	noncoding	Benign
8	38413562	C	T	C38413562T	FGFR1	NM_023110.3(FGFR1):c.*66G>A	noncoding	Benign
8	38413810	A	G	A38413810G	FGFR1	NM_023110.3(FGFR1):c.2293-6T>C	noncoding	Benign
8	38413882	C	T	C38413882T	FGFR1	NM_023110.3(FGFR1):c.2292+36G>A	noncoding	Benign
8	38414024	C	T	C38414024T	FGFR1	NM_023110.3(FGFR1):c.2187-1G>A	coding	Pathogenic
8	38414279	C	T	C38414279T	FGFR1	NM_023110.3(FGFR1):c.2059G>A:p.Gly687Arg	coding	Pathogenic/Likely_pathogenic
8	38414626	G	A	G38414626A	FGFR1	NM_023110.3(FGFR1):c.1981C>T:p.Arg661Ter	coding	Pathogenic
8	38414834	T	C	T38414834C	FGFR1	NM_023110.3(FGFR1):c.1922A>G:p.Asp641Gly	coding	Pathogenic
8	38414902	C	T	C38414902T	FGFR1	NM_023110.3(FGFR1):c.1855-1G>A	coding	Pathogenic
8	38414917	G	A	G38414917A	FGFR1	NM_023110.3(FGFR1):c.1855-16C>T	noncoding	Benign/Likely_benign
8	38415024	C	G	C38415024G	FGFR1	NM_023110.3(FGFR1):c.1855-123G>C	noncoding	Benign
8	38415064	C	A	C38415064A	FGFR1	NM_023110.3(FGFR1):c.1855-163G>T	noncoding	Benign
8	38418260	G	A	G38418260A	FGFR1	NM_023110.3(FGFR1):c.1398C>T:p.Pro466=	coding	Benign
8	38418350	G	A	G38418350A	FGFR1	NM_023110.3(FGFR1):c.1308C>T:p.Ser436=	coding	Benign
8	38418388	G	A	G38418388A	FGFR1	NM_023110.3(FGFR1):c.1285-15C>T	noncoding	Benign
8	38421777	G	A	G38421777A	FGFR1	NM_023110.3(FGFR1):c.1081+20C>T	noncoding	Benign
8	38422018	A	G	A38422018G	FGFR1	NM_023110.3(FGFR1):c.937-77T>C	noncoding	Benign
8	38424463	T	A	T38424463A	FGFR1	NM_023110.3(FGFR1):c.936+46A>T	noncoding	Benign
8	38424572	C	T	C38424572T	FGFR1	NM_023110.3(FGFR1):c.873G>A:p.Lys291=	coding	Benign
8	38424628	C	T	C38424628T	FGFR1	NM_023110.3(FGFR1):c.817G>A:p.Val273Met	coding	Pathogenic/Likely_pathogenic
8	38424776	C	T	C38424776T	FGFR1	NM_023110.3(FGFR1):c.746-77G>A	noncoding	Benign
8	38424971	T	G	T38424971G	FGFR1	NM_023110.3(FGFR1):c.746-272A>C	noncoding	Benign
8	38426270	C	G	C38426270G	FGFR1	NM_023110.3(FGFR1):c.622-25G>C	noncoding	Benign
8	38426493	C	T	C38426493T	FGFR1	NM_023110.3(FGFR1):c.622-248G>A	noncoding	Benign
8	38427924	G	A	G38427924A	FGFR1	NM_023110.3(FGFR1):c.618C>T:p.Tyr206=	coding	Benign
8	38428101	G	T	G38428101T	FGFR1	NM_023110.3(FGFR1):c.449-8C>A	noncoding	Benign
8	38428118	C	G	C38428118G	FGFR1	NM_023110.3(FGFR1):c.449-25G>C	noncoding	Benign
8	38428326	G	A	G38428326A	FGFR1	NM_023110.3(FGFR1):c.448+20C>T	noncoding	Benign
8	38428524	C	T	C38428524T	FGFR1	NM_023110.3(FGFR1):c.359-89G>A	noncoding	Benign
8	38428707	G	A	G38428707A	FGFR1	NM_023110.3(FGFR1):c.359-272C>T	noncoding	Benign
8	38429678	C	T	C38429678T	FGFR1	NM_023110.3(FGFR1):c.358+4G>A	noncoding	Benign
8	38429962	G	A	G38429962A	FGFR1	NM_023110.3(FGFR1):c.92-14C>T	noncoding	Benign
8	38430037	C	T	C38430037T	FGFR1	NM_023110.3(FGFR1):c.92-89G>A	noncoding	Benign
8	38458602	G	C	G38458602C	FGFR1	NM_023110.3(FGFR1):c.-88-1068C>G	noncoding	Benign
8	38460819	G	C	G38460819C	FGFR1	NM_023110.3(FGFR1):c.-88-3285C>G	noncoding	Benign
8	38461456	T	G	T38461456G	FGFR1	NM_023110.3(FGFR1):c.-88-3922A>C	noncoding	Benign
8	38462118	T	C	T38462118C	FGFR1	NM_023110.3(FGFR1):c.-88-4584A>G	noncoding	Benign
8	38464733	A	T	A38464733T	FGFR1	NM_023110.3(FGFR1):c.-89+3248T>A	noncoding	Benign
8	38465453	G	A	G38465453A	FGFR1	NM_023110.3(FGFR1):c.-89+2528C>T	noncoding	Benign
8	38467482	C	T	C38467482T	FGFR1	NM_023110.3(FGFR1):c.-89+499G>A	noncoding	Benign
8	38467859	G	C	G38467859C	FGFR1	NM_023110.3(FGFR1):c.-89+122C>G	noncoding	Benign
8	39013806	T	G	T39013806G	ADAM9	NM_003816.3(ADAM9):c.255-159T>G	noncoding	Benign
8	39018947	T	C	T39018947C	ADAM9	NM_003816.3(ADAM9):c.672+29T>C	noncoding	Benign
8	39018949	C	T	C39018949T	ADAM9	NM_003816.3(ADAM9):c.672+31C>T	noncoding	Benign
8	39026657	T	C	T39026657C	ADAM9	NM_003816.3(ADAM9):c.997-20T>C	noncoding	Benign
8	39054419	T	G	T39054419G	ADAM9	NM_003816.3(ADAM9):c.1303-62T>G	noncoding	Benign
8	39054434	C	A	C39054434A	ADAM9	NM_003816.3(ADAM9):c.1303-47C>A	noncoding	Benign
8	39055601	C	T	C39055601T	ADAM9	NM_003816.3(ADAM9):c.1420C>T:p.Arg474Ter	coding	Pathogenic
8	39055696	C	T	C39055696T	ADAM9	NM_003816.3(ADAM9):c.1515C>T:p.Cys505=	coding	Benign
8	39071419	G	T	G39071419T	ADAM9	NM_003816.3(ADAM9):c.1697+16G>T	noncoding	Benign
8	39101847	T	A	T39101847A	ADAM9	NM_003816.3(ADAM9):c.2299-16T>A	noncoding	Benign
8	39101979	G	A	G39101979A	ADAM9	NM_003816.3(ADAM9):c.2366+49G>A	noncoding	Benign
8	39982715	A	G	A39982715G	IDO2	NM_194294.5(IDO2):c.379A>G:p.Ile127Val	coding	Benign
8	40005362	C	T	C40005362T	IDO2	NM_194294.5(IDO2):c.703C>T:p.Arg235Trp	coding	Benign
8	40015416	T	A	T40015416A	IDO2	NM_194294.5(IDO2):c.1038T>A:p.Tyr346Ter	coding	Benign
8	41655934	C	T	C41655934T	ANK1	NM_000037.4(ANK1):c.*37-181G>A	noncoding	Benign
8	41656012	T	C	T41656012C	ANK1	NM_000037.4(ANK1):c.*37-259A>G	noncoding	Benign
8	41656020	T	C	T41656020C	ANK1	NM_000037.4(ANK1):c.*37-267A>G	noncoding	Benign
8	41661197	C	T	C41661197T	ANK1	NM_000037.4(ANK1):c.*36+233G>A	noncoding	Benign
8	41661354	G	C	G41661354C	ANK1	NM_000037.4(ANK1):c.*36+76C>G	noncoding	Benign
8	41661730	T	C	T41661730C	ANK1	NM_000037.4(ANK1):c.5544+146A>G	noncoding	Benign
8	41661958	A	G	A41661958G	ANK1	NM_000037.4(ANK1):c.5479-17T>C	noncoding	Benign
8	41663951	C	G	C41663951G	ANK1	NM_000037.4(ANK1):c.5395-209G>C	noncoding	Benign
8	41664904	G	T	G41664904T	ANK1	NM_000037.4(ANK1):c.5395-1162C>A	coding	Benign/Likely_benign
8	41665473	A	G	A41665473G	ANK1	NM_000037.4(ANK1):c.5395-1731T>C	noncoding	Benign
8	41667982	G	C	G41667982C	ANK1	NM_000037.4(ANK1):c.5394+285C>G	noncoding	Benign
8	41668070	C	T	C41668070T	ANK1	NM_000037.4(ANK1):c.5394+197G>A	noncoding	Benign
8	41668469	G	C	G41668469C	ANK1	NM_000037.4(ANK1):c.5192C>G:p.Ser1731Ter	coding	Pathogenic
8	41668711	G	T	G41668711T	ANK1	NM_000037.4(ANK1):c.5097-147C>A	noncoding	Benign
8	41672379	G	A	G41672379A	ANK1	NM_000037.4(ANK1):c.5071C>T:p.Gln1691Ter	coding	Pathogenic
8	41672964	C	G	C41672964G	ANK1	NM_000037.4(ANK1):c.4538-52G>C	noncoding	Benign
8	41684223	A	G	A41684223G	ANK1	NM_000037.4(ANK1):c.4537+321T>C	noncoding	Benign
8	41684667	G	A	G41684667A	ANK1	NM_000037.4(ANK1):c.4414C>T:p.Gln1472Ter	coding	Pathogenic
8	41684739	G	A	G41684739A	ANK1	NM_000037.4(ANK1):c.4391-49C>T	noncoding	Benign
8	41688123	A	G	A41688123G	ANK1	NM_000037.4(ANK1):c.4258+33T>C	noncoding	Benign
8	41688210	G	A	G41688210A	ANK1	NM_000037.4(ANK1):c.4204C>T:p.Gln1402Ter	coding	Pathogenic
8	41688876	G	A	G41688876A	ANK1	NM_000037.4(ANK1):c.4105-287C>T	noncoding	Benign
8	41690056	A	G	A41690056G	ANK1	NM_000037.4(ANK1):c.4104+171T>C	noncoding	Benign
8	41690142	G	A	G41690142A	ANK1	NM_000037.4(ANK1):c.4104+85C>T	noncoding	Benign
8	41690165	T	C	T41690165C	ANK1	NM_000037.4(ANK1):c.4104+62A>G	noncoding	Benign
8	41690233	G	T	G41690233T	ANK1	NM_000037.4(ANK1):c.4098C>A:p.Cys1366Ter	coding	Pathogenic
8	41690274	G	A	G41690274A	ANK1	NM_000037.4(ANK1):c.4057C>T:p.Gln1353Ter	coding	Pathogenic
8	41690331	G	A	G41690331A	ANK1	NM_000037.4(ANK1):c.4000C>T:p.Arg1334Ter	coding	Pathogenic
8	41690472	A	G	A41690472G	ANK1	NM_000037.4(ANK1):c.3984+2T>C	noncoding	Pathogenic
8	41690689	C	T	C41690689T	ANK1	NM_000037.4(ANK1):c.3859-90G>A	noncoding	Benign
8	41690691	C	T	C41690691T	ANK1	NM_000037.4(ANK1):c.3859-92G>A	noncoding	Benign
8	41690794	C	T	C41690794T	ANK1	NM_000037.4(ANK1):c.3859-195G>A	noncoding	Benign
8	41690917	C	T	C41690917T	ANK1	NM_000037.4(ANK1):c.3859-318G>A	noncoding	Benign
8	41693103	A	G	A41693103G	ANK1	NM_000037.4(ANK1):c.3629+2T>C	noncoding	Pathogenic
8	41693104	C	G	C41693104G	ANK1	NM_000037.4(ANK1):c.3629+1G>C	noncoding	Pathogenic
8	41694210	G	A	G41694210A	ANK1	NM_000037.4(ANK1):c.3328-108C>T	noncoding	Benign
8	41694571	G	C	G41694571C	ANK1	NM_000037.4(ANK1):c.3327+21C>G	noncoding	Benign
8	41694594	G	A	G41694594A	ANK1	NM_000037.4(ANK1):c.3325C>T:p.Gln1109Ter	coding	Pathogenic/Likely_pathogenic
8	41694762	G	A	G41694762A	ANK1	NM_000037.4(ANK1):c.3157C>T:p.Arg1053Ter	coding	Pathogenic
8	41694925	G	A	G41694925A	ANK1	NM_000037.4(ANK1):c.3116-122C>T	noncoding	Benign
8	41696317	G	A	G41696317A	ANK1	NM_000037.4(ANK1):c.2960+46C>T	noncoding	Benign
8	41696520	G	A	G41696520A	ANK1	NM_000037.4(ANK1):c.2803C>T:p.Arg935Ter	coding	Pathogenic
8	41696723	G	A	G41696723A	ANK1	NM_000037.4(ANK1):c.2688C>T:p.Thr896=	coding	Benign
8	41697955	T	C	T41697955C	ANK1	NM_000037.4(ANK1):c.2637+88A>G	noncoding	Benign
8	41698218	C	T	C41698218T	ANK1	NM_000037.4(ANK1):c.2559-97G>A	noncoding	Benign
8	41698222	A	G	A41698222G	ANK1	NM_000037.4(ANK1):c.2559-101T>C	noncoding	Benign
8	41698286	A	G	A41698286G	ANK1	NM_000037.4(ANK1):c.2559-165T>C	noncoding	Benign
8	41698292	C	T	C41698292T	ANK1	NM_000037.4(ANK1):c.2559-171G>A	noncoding	Benign
8	41699324	C	T	C41699324T	ANK1	NM_000037.4(ANK1):c.2558+128G>A	noncoding	Benign
8	41700751	T	G	T41700751G	ANK1	NM_000037.4(ANK1):c.2461+799A>C	noncoding	Benign
8	41701380	T	G	T41701380G	ANK1	NM_000037.4(ANK1):c.2461+170A>C	noncoding	Benign
8	41701623	C	T	C41701623T	ANK1	NM_000037.4(ANK1):c.2389-1G>A	coding	Pathogenic
8	41702164	G	A	G41702164A	ANK1	NM_000037.4(ANK1):c.2296-20C>T	noncoding	Benign
8	41703865	G	A	G41703865A	ANK1	NM_000037.4(ANK1):c.2295+176C>T	noncoding	Benign
8	41704406	G	A	G41704406A	ANK1	NM_000037.4(ANK1):c.2164C>T:p.Gln722Ter	coding	Pathogenic
8	41704473	C	A	C41704473A	ANK1	NM_000037.4(ANK1):c.2098-1G>T	coding	Pathogenic
8	41706258	G	A	G41706258A	ANK1	NM_000037.4(ANK1):c.1999-17C>T	noncoding	Benign
8	41708885	C	A	C41708885A	ANK1	NM_000037.4(ANK1):c.1891G>T:p.Glu631Ter	coding	Pathogenic
8	41713915	C	T	C41713915T	ANK1	NM_000037.4(ANK1):c.1800+241G>A	noncoding	Benign
8	41714284	C	G	C41714284G	ANK1	NM_000037.4(ANK1):c.1702-30G>C	noncoding	Benign
8	41714308	C	G	C41714308G	ANK1	NM_000037.4(ANK1):c.1702-54G>C	noncoding	Benign
8	41714387	T	G	T41714387G	ANK1	NM_000037.4(ANK1):c.1702-133A>C	noncoding	Benign
8	41714445	A	T	A41714445T	ANK1	NM_000037.4(ANK1):c.1702-191T>A	noncoding	Benign
8	41714867	A	G	A41714867G	ANK1	NM_000037.4(ANK1):c.1701+109T>C	noncoding	Benign
8	41715651	C	G	C41715651G	ANK1	NM_000037.4(ANK1):c.1602+1G>C	noncoding	Pathogenic
8	41715705	C	A	C41715705A	ANK1	NM_000037.4(ANK1):c.1549G>T:p.Glu517Ter	coding	Pathogenic
8	41715970	G	A	G41715970A	ANK1	NM_000037.4(ANK1):c.1405-121C>T	noncoding	Benign
8	41716772	C	T	C41716772T	ANK1	NM_000037.4(ANK1):c.1404+181G>A	noncoding	Benign
8	41716992	A	C	A41716992C	ANK1	NM_000037.4(ANK1):c.1365T>G:p.Tyr455Ter	coding	Pathogenic
8	41717218	A	C	A41717218C	ANK1	NM_000037.4(ANK1):c.1306-167T>G	noncoding	Benign
8	41717603	C	T	C41717603T	ANK1	NM_000037.4(ANK1):c.1305+1G>A	noncoding	Pathogenic
8	41717902	A	C	A41717902C	ANK1	NM_000037.4(ANK1):c.1207-200T>G	noncoding	Benign
8	41717921	G	A	G41717921A	ANK1	NM_000037.4(ANK1):c.1206+185C>T	noncoding	Benign
8	41718188	A	C	A41718188C	ANK1	NM_000037.4(ANK1):c.1124T>G:p.Leu375Ter	coding	Pathogenic
8	41719496	A	G	A41719496G	ANK1	NM_000037.4(ANK1):c.1107+165T>C	noncoding	Benign
8	41719603	C	G	C41719603G	ANK1	NM_000037.4(ANK1):c.1107+58G>C	noncoding	Benign
8	41719977	T	C	T41719977C	ANK1	NM_000037.4(ANK1):c.910-119A>G	noncoding	Benign
8	41720005	C	T	C41720005T	ANK1	NM_000037.4(ANK1):c.910-147G>A	noncoding	Benign
8	41723089	T	C	T41723089C	ANK1	NM_000037.4(ANK1):c.909+36A>G	noncoding	Benign
8	41723178	G	A	G41723178A	ANK1	NM_000037.4(ANK1):c.856C>T:p.Arg286Ter	coding	Pathogenic
8	41723193	G	A	G41723193A	ANK1	NM_000037.4(ANK1):c.841C>T:p.Arg281Ter	coding	Pathogenic
8	41723388	G	A	G41723388A	ANK1	NM_000037.4(ANK1):c.810+147C>T	noncoding	Benign
8	41724200	A	T	A41724200T	ANK1	NM_000037.4(ANK1):c.711+256T>A	noncoding	Benign
8	41724513	G	T	G41724513T	ANK1	NM_000037.4(ANK1):c.654C>A:p.Asn218Lys	coding	Benign/Likely_benign
8	41725684	G	A	G41725684A	ANK1	NM_000037.4(ANK1):c.612+77C>T	noncoding	Benign
8	41725697	C	T	C41725697T	ANK1	NM_000037.4(ANK1):c.612+64G>A	noncoding	Benign
8	41726196	T	C	T41726196C	ANK1	NM_000037.4(ANK1):c.427-250A>G	noncoding	Benign
8	41727267	G	A	G41727267A	ANK1	NM_000037.4(ANK1):c.409C>T:p.Gln137Ter	coding	Pathogenic
8	41727318	G	A	G41727318A	ANK1	NM_000037.4(ANK1):c.358C>T:p.Gln120Ter	coding	Pathogenic
8	41727866	T	G	T41727866G	ANK1	NM_000037.4(ANK1):c.327+42A>C	noncoding	Benign
8	41727916	G	A	G41727916A	ANK1	NM_000037.4(ANK1):c.319C>T:p.Gln107Ter	coding	Pathogenic
8	41728053	C	T	C41728053T	ANK1	NM_000037.4(ANK1):c.229-47G>A	noncoding	Benign
8	41728059	G	A	G41728059A	ANK1	NM_000037.4(ANK1):c.229-53C>T	noncoding	Benign
8	41728061	G	A	G41728061A	ANK1	NM_000037.4(ANK1):c.229-55C>T	noncoding	Benign
8	41733756	G	A	G41733756A	ANK1	NM_000037.4(ANK1):c.228+215C>T	noncoding	Benign
8	41734125	C	T	C41734125T	ANK1	NM_000037.4(ANK1):c.130-56G>A	noncoding	Benign
8	41757911	G	A	G41757911A	ANK1	NM_000037.4(ANK1):c.129+125C>T	noncoding	Benign
8	41896325	C	G	C41896325G	ANK1	NM_001142446.2(ANK1):c.126+30G>C	noncoding	Benign
8	41896609	G	A	G41896609A	ANK1	NM_001142446.2(ANK1):c.-129C>T	noncoding	Benign
8	41896687	G	C	G41896687C	ANK1	NM_001142446.2(ANK1):c.-207C>G	noncoding	Benign
8	41896958	T	G	T41896958G	ANK1	Single_allele	noncoding	Benign
8	41932020	G	C	G41932020C	KAT6A	NM_006766.5(KAT6A):c.*185C>G	noncoding	Benign
8	41932253	A	G	A41932253G	KAT6A	NM_006766.5(KAT6A):c.5967T>C:p.Ala1989=	coding	Benign/Likely_benign
8	41932429	T	C	T41932429C	KAT6A	NM_006766.5(KAT6A):c.5791A>G:p.Met1931Val	coding	Benign
8	41932532	G	A	G41932532A	KAT6A	NM_006766.5(KAT6A):c.5688C>T:p.Gly1896=	coding	Benign
8	41932620	G	A	G41932620A	KAT6A	NM_006766.5(KAT6A):c.5600C>T:p.Ala1867Val	coding	Benign
8	41932623	G	C	G41932623C	KAT6A	NM_006766.5(KAT6A):c.5597C>G:p.Ser1866Cys	coding	Benign
8	41932694	C	T	C41932694T	KAT6A	NM_006766.5(KAT6A):c.5526G>A:p.Thr1842=	coding	Benign/Likely_benign
8	41932961	T	C	T41932961C	KAT6A	NM_006766.5(KAT6A):c.5259A>G:p.Leu1753=	coding	Benign/Likely_benign
8	41932979	T	C	T41932979C	KAT6A	NM_006766.5(KAT6A):c.5241A>G:p.Pro1747=	coding	Benign/Likely_benign
8	41933184	G	A	G41933184A	KAT6A	NM_006766.5(KAT6A):c.5036C>T:p.Pro1679Leu	coding	Benign
8	41933268	G	A	G41933268A	KAT6A	NM_006766.5(KAT6A):c.4952C>T:p.Pro1651Leu	coding	Benign/Likely_benign
8	41933513	G	A	G41933513A	KAT6A	NM_006766.5(KAT6A):c.4707C>T:p.Tyr1569=	coding	Benign
8	41933609	G	A	G41933609A	KAT6A	NM_006766.5(KAT6A):c.4611C>T:p.Ser1537=	coding	Benign/Likely_benign
8	41933826	T	C	T41933826C	KAT6A	NM_006766.5(KAT6A):c.4394A>G:p.Asp1465Gly	coding	Benign
8	41934071	G	A	G41934071A	KAT6A	NM_006766.5(KAT6A):c.4149C>T:p.Ser1383=	coding	Benign/Likely_benign
8	41934074	C	T	C41934074T	KAT6A	NM_006766.5(KAT6A):c.4146G>A:p.Thr1382=	coding	Benign/Likely_benign
8	41934456	G	C	G41934456C	KAT6A	NM_006766.5(KAT6A):c.3764C>G:p.Ala1255Gly	coding	Benign/Likely_benign
8	41934644	G	A	G41934644A	KAT6A	NM_006766.5(KAT6A):c.3576C>T:p.Ile1192=	coding	Benign/Likely_benign
8	41934659	G	A	G41934659A	KAT6A	NM_006766.5(KAT6A):c.3561C>T:p.Cys1187=	coding	Benign/Likely_benign
8	41934780	T	A	T41934780A	KAT6A	NM_006766.5(KAT6A):c.3440A>T:p.Lys1147Ile	coding	Benign
8	41934828	C	T	C41934828T	KAT6A	NM_006766.5(KAT6A):c.3392G>A:p.Arg1131His	coding	Benign
8	41934898	G	T	G41934898T	KAT6A	NM_006766.5(KAT6A):c.3353-31C>A	noncoding	Benign
8	41937236	G	A	G41937236A	KAT6A	NM_006766.5(KAT6A):c.3352+20C>T	noncoding	Benign
8	41937366	G	C	G41937366C	KAT6A	NM_006766.5(KAT6A):c.3242C>G:p.Pro1081Arg	coding	Benign/Likely_benign
8	41940684	G	T	G41940684T	KAT6A	NM_006766.5(KAT6A):c.3039+158C>A	noncoding	Benign
8	41940871	T	C	T41940871C	KAT6A	NM_006766.5(KAT6A):c.3010A>G:p.Ile1004Val	coding	Benign/Likely_benign
8	41941017	G	C	G41941017C	KAT6A	NM_006766.5(KAT6A):c.2864C>G:p.Pro955Arg	coding	Benign
8	41941254	T	G	T41941254G	KAT6A	NM_006766.5(KAT6A):c.2627A>C:p.Gln876Pro	coding	Benign
8	41941348	G	A	G41941348A	KAT6A	NM_006766.5(KAT6A):c.2533C>T:p.Arg845Cys	coding	Benign
8	41941380	T	G	T41941380G	KAT6A	NM_006766.5(KAT6A):c.2501A>C:p.Lys834Thr	coding	Benign
8	41941400	A	G	A41941400G	KAT6A	NM_006766.5(KAT6A):c.2481T>C:p.Tyr827_Ser828=	coding	Benign
8	41941437	T	C	T41941437C	KAT6A	NM_006766.5(KAT6A):c.2444A>G:p.Lys815Arg	coding	Benign
8	41941762	A	G	A41941762G	KAT6A	NM_006766.5(KAT6A):c.2437-318T>C	noncoding	Benign
8	41942856	T	G	T41942856G	KAT6A	NM_006766.5(KAT6A):c.2373A>C:p.Glu791Asp	coding	Benign/Likely_benign
8	41943773	G	A	G41943773A	KAT6A	NM_006766.5(KAT6A):c.2203C>T:p.Arg735Ter	coding	Pathogenic
8	41946542	A	G	A41946542G	KAT6A	NM_006766.5(KAT6A):c.1996+49T>C	noncoding	Benign
8	41946543	G	C	G41946543C	KAT6A	NM_006766.5(KAT6A):c.1996+48C>G	noncoding	Benign
8	41946659	T	C	T41946659C	KAT6A	NM_006766.5(KAT6A):c.1928A>G:p.Asn643Ser	coding	Pathogenic
8	41947483	C	G	C41947483G	KAT6A	NM_006766.5(KAT6A):c.1902+268G>C	noncoding	Benign
8	41947655	A	C	A41947655C	KAT6A	NM_006766.5(KAT6A):c.1902+96T>G	noncoding	Benign
8	41947731	C	T	C41947731T	KAT6A	NM_006766.5(KAT6A):c.1902+20G>A	noncoding	Benign
8	41947922	T	C	T41947922C	KAT6A	NM_006766.5(KAT6A):c.1741-10A>G	noncoding	Benign/Likely_benign
8	41974698	C	T	C41974698T	KAT6A	NM_006766.5(KAT6A):c.1482+6G>A	noncoding	Benign
8	41974741	A	T	A41974741T	KAT6A	NM_006766.5(KAT6A):c.1445T>A:p.Met482Lys	coding	Benign
8	41974781	G	A	G41974781A	KAT6A	NM_006766.5(KAT6A):c.1405C>T:p.Arg469Ter	coding	Pathogenic
8	41974831	A	T	A41974831T	KAT6A	NM_006766.5(KAT6A):c.1364-9T>A	noncoding	Benign
8	41974833	A	G	A41974833G	KAT6A	NM_006766.5(KAT6A):c.1364-11T>C	noncoding	Benign
8	41977059	G	A	G41977059A	KAT6A	NM_006766.5(KAT6A):c.1312C>T:p.Arg438Ter	coding	Pathogenic
8	41977186	A	C	A41977186C	KAT6A	NM_006766.5(KAT6A):c.1185T>G:p.Asp395Glu	coding	Benign/Likely_benign
8	41977237	T	C	T41977237C	KAT6A	NM_006766.5(KAT6A):c.1134A>G:p.Ser378=	coding	Benign/Likely_benign
8	41977238	G	C	G41977238C	KAT6A	NM_006766.5(KAT6A):c.1133C>G:p.Ser378Ter	coding	Pathogenic
8	41977384	T	C	T41977384C	KAT6A	NM_006766.5(KAT6A):c.1044-57A>G	noncoding	Benign
8	41978409	G	A	G41978409A	KAT6A	NM_006766.5(KAT6A):c.1043+233C>T	noncoding	Benign
8	41978656	C	A	C41978656A	KAT6A	NM_006766.5(KAT6A):c.1029G>T:p.Lys343Asn	coding	Benign/Likely_benign
8	41980985	G	A	G41980985A	KAT6A	NM_006766.5(KAT6A):c.826-58C>T	noncoding	Benign
8	41981968	G	C	G41981968C	KAT6A	NM_006766.5(KAT6A):c.710-14C>G	noncoding	Benign
8	41987516	T	C	T41987516C	KAT6A	NM_006766.5(KAT6A):c.648A>G:p.Lys216=	coding	Benign/Likely_benign
8	42048095	A	T	A42048095T	KAT6A	NM_006766.5(KAT6A):c.600+283T>A	noncoding	Benign
8	42048602	T	A	T42048602A	KAT6A	NM_006766.5(KAT6A):c.376A>T:p.Lys126Ter	coding	Pathogenic
8	42048642	C	G	C42048642G	KAT6A	NM_006766.5(KAT6A):c.336G>C:p.Glu112Asp	coding	Benign/Likely_benign
8	42048664	C	T	C42048664T	KAT6A	NM_006766.5(KAT6A):c.314G>A:p.Arg105Gln	coding	Benign
8	42049176	A	T	A42049176T	KAT6A	NM_006766.5(KAT6A):c.-199T>A	noncoding	Benign
8	42049431	T	C	T42049431C	KAT6A	NM_006766.5(KAT6A):c.-325-129A>G	noncoding	Benign
8	42271424	C	T	C42271424T	IKBKB	NM_001556.3(IKBKB):c.-64C>T	coding	Benign
8	42271987	A	T	A42271987T	IKBKB	NM_001556.3(IKBKB):c.-18-96A>T	noncoding	Benign
8	42288691	C	T	C42288691T	IKBKB	NM_001556.3(IKBKB):c.163C>T:p.Arg55Ter	coding	Pathogenic
8	42288742	G	A	G42288742A	IKBKB	NM_001556.3(IKBKB):c.200+14G>A	noncoding	Benign
8	42290376	G	A	G42290376A	IKBKB	NM_001556.3(IKBKB):c.318+103G>A	noncoding	Benign
8	42290531	G	A	G42290531A	IKBKB	NM_001556.3(IKBKB):c.318+258G>A	noncoding	Benign
8	42293532	T	G	T42293532G	IKBKB	NM_001556.3(IKBKB):c.388+20T>G	coding	Benign
8	42306151	G	A	G42306151A	IKBKB	NM_001556.3(IKBKB):c.478-192G>A	noncoding	Benign
8	42314499	C	G	C42314499G	IKBKB	NM_001556.3(IKBKB):c.800+70C>G	noncoding	Benign
8	42316703	G	A	G42316703A	IKBKB	NM_001556.3(IKBKB):c.931-7G>A	noncoding	Benign
8	42318283	G	A	G42318283A	IKBKB	NM_001556.3(IKBKB):c.1241-269G>A	noncoding	Benign
8	42320583	C	T	C42320583T	IKBKB	NM_001556.3(IKBKB):c.1579-152C>T	noncoding	Benign
8	42320613	G	C	G42320613C	IKBKB	NM_001556.3(IKBKB):c.1579-122G>C	noncoding	Benign
8	42321912	G	T	G42321912T	IKBKB	NM_001556.3(IKBKB):c.1705G>T:p.Glu569Ter	coding	Pathogenic
8	42326006	A	G	A42326006G	IKBKB	NM_001556.3(IKBKB):c.2023A>G:p.Ser675Gly	coding	Benign
8	42326416	C	A	C42326416A	IKBKB	NM_001556.3(IKBKB):c.2114+319C>A	noncoding	Benign
8	42328973	G	A	G42328973A	IKBKB	NM_001556.3(IKBKB):c.2115-151G>A	noncoding	Benign
8	42329061	T	C	T42329061C	IKBKB	NM_001556.3(IKBKB):c.2115-63T>C	noncoding	Benign
8	42330914	G	A	G42330914A	IKBKB	NM_001556.3(IKBKB):c.2206G>A:p.Ala736Thr	coding	Benign
8	42331032	A	G	A42331032G	IKBKB	NM_001556.3(IKBKB):c.*53A>G	noncoding	Benign
8	42417937	G	A	G42417937A	SLC20A2	NM_001257180.2(SLC20A2):c.1825C>T:p.Arg609Cys	coding	Benign
8	42417999	G	A	G42417999A	SLC20A2	NM_001257180.2(SLC20A2):c.1795-32C>T	noncoding	Benign
8	42428599	A	G	A42428599G	SLC20A2	NM_001257180.2(SLC20A2):c.1794+159T>C	noncoding	Benign
8	42429789	C	G	C42429789G	SLC20A2	NM_001257180.2(SLC20A2):c.1709+275G>C	noncoding	Benign
8	42436965	G	C	G42436965C	SLC20A2	NM_001257180.2(SLC20A2):c.1523+24C>G	noncoding	Benign
8	42436988	C	A	C42436988A	SLC20A2	NM_001257180.2(SLC20A2):c.1523+1G>T	noncoding	Pathogenic
8	42437089	T	A	T42437089A	SLC20A2	NM_001257180.2(SLC20A2):c.1423A>T:p.Lys475Ter	coding	Pathogenic
8	42437289	G	T	G42437289T	SLC20A2	NM_001257180.2(SLC20A2):c.1223C>A:p.Ser408Ter	coding	Pathogenic
8	42437314	C	T	C42437314T	SLC20A2	NM_001257180.2(SLC20A2):c.1198G>A:p.Ala400Thr	coding	Benign/Likely_benign
8	42437354	G	T	G42437354T	SLC20A2	NM_001257180.2(SLC20A2):c.1158C>A:p.Tyr386Ter	coding	Pathogenic
8	42437368	G	A	G42437368A	SLC20A2	NM_001257180.2(SLC20A2):c.1144C>T:p.Arg382Ter	coding	Pathogenic
8	42437395	G	A	G42437395A	SLC20A2	NM_001257180.2(SLC20A2):c.1117C>T:p.Gln373Ter	coding	Pathogenic
8	42444473	A	G	A42444473G	SLC20A2	NM_001257180.2(SLC20A2):c.730+173T>C	noncoding	Benign
8	42460017	T	C	T42460017C	SLC20A2	NM_001257180.2(SLC20A2):c.517-25A>G	noncoding	Benign
8	42460242	C	A	C42460242A	SLC20A2	NM_001257180.2(SLC20A2):c.517-250G>T	noncoding	Benign
8	42465756	G	T	G42465756T	SLC20A2	NM_001257180.2(SLC20A2):c.430+21C>A	noncoding	Benign
8	42472368	C	T	C42472368T	SLC20A2	NM_001257180.2(SLC20A2):c.23G>A:p.Trp8Ter	coding	Pathogenic
8	42838067	T	C	T42838067C	THAP1	NM_018105.3(THAP1):c.537A>G:p.Lys179=	coding	Benign
8	42838115	G	C	G42838115C	THAP1	NM_018105.3(THAP1):c.489C>G:p.Leu163=	coding	Benign/Likely_benign
8	42839345	C	T	C42839345T	THAP1	NM_018105.3(THAP1):c.108G>A:p.Trp36Ter	coding	Pathogenic
8	42839368	G	A	G42839368A	THAP1	NM_018105.3(THAP1):c.85C>T:p.Arg29Ter	coding	Pathogenic/Likely_pathogenic
8	42839376	G	A	G42839376A	THAP1	NM_018105.3(THAP1):c.77C>T:p.Pro26Leu	coding	Pathogenic/Likely_pathogenic
8	42842898	A	G	A42842898G	THAP1	NM_018105.3(THAP1):c.71+126T>C	noncoding	Benign
8	42843094	T	A	T42843094A	THAP1	NM_018105.3(THAP1):c.1A>T:p.Met1Leu	coding	Pathogenic
8	42850871	C	T	C42850871T	RNF170	NM_001160224.2(RNF170):c.523G>A:p.Asp175Asn	coding	Benign
8	42856463	A	G	A42856463G	RNF170	NM_030954.4(RNF170):c.508-35T>C	noncoding	Benign
8	42865470	G	C	G42865470C	RNF170	NM_030954.4(RNF170):c.342C>G:p.Tyr114Ter	coding	Pathogenic
8	42869991	G	A	G42869991A	RNF170	NM_030954.4(RNF170):c.322+13C>T	noncoding	Benign
8	43103591	C	T	C43103591T	POMK	NM_032237.5(POMK):c.43C>T:p.Arg15Ter	coding	Pathogenic
8	43103864	C	A	C43103864A	POMK	NM_032237.5(POMK):c.282+34C>A	noncoding	Benign
8	43140668	C	T	C43140668T	HGSNAT	NM_152419.3(HGSNAT):c.118+54C>T	noncoding	Benign
8	43147394	C	T	C43147394T	HGSNAT	NM_152419.3(HGSNAT):c.234+331C>T	noncoding	Benign
8	43158500	G	A	G43158500A	HGSNAT	NM_152419.3(HGSNAT):c.235-75G>A	noncoding	Benign
8	43158793	C	T	C43158793T	HGSNAT	NM_152419.3(HGSNAT):c.371+82C>T	noncoding	Benign
8	43158927	G	T	G43158927T	HGSNAT	NM_152419.3(HGSNAT):c.376G>T:p.Glu126Ter	coding	Pathogenic
8	43159057	T	A	T43159057A	HGSNAT	NM_152419.3(HGSNAT):c.493+13T>A	noncoding	Benign
8	43159164	G	A	G43159164A	HGSNAT	NM_152419.3(HGSNAT):c.493+120G>A	noncoding	Benign
8	43161557	C	T	C43161557T	HGSNAT	NM_152419.3(HGSNAT):c.563+50C>T	noncoding	Benign
8	43169452	G	A	G43169452A	HGSNAT	NM_152419.3(HGSNAT):c.633+210G>A	noncoding	Benign
8	43172347	G	T	G43172347T	HGSNAT	NM_152419.3(HGSNAT):c.781G>T:p.Gly261Ter	coding	Pathogenic
8	43172509	C	T	C43172509T	HGSNAT	NM_152419.3(HGSNAT):c.820+123C>T	noncoding	Benign
8	43173685	T	C	T43173685C	HGSNAT	NM_152419.3(HGSNAT):c.821-28T>C	noncoding	Benign
8	43178147	A	T	A43178147T	HGSNAT	NM_152419.3(HGSNAT):c.925A>T:p.Arg309Ter	coding	Pathogenic/Likely_pathogenic
8	43178169	G	A	G43178169A	HGSNAT	NM_152419.3(HGSNAT):c.947G>A:p.Trp316Ter	coding	Pathogenic/Likely_pathogenic
8	43182163	G	A	G43182163A	HGSNAT	NM_152419.3(HGSNAT):c.1031G>A:p.Arg344His	coding	Pathogenic/Likely_pathogenic
8	43182234	A	T	A43182234T	HGSNAT	NM_152419.3(HGSNAT):c.1102A>T:p.Lys368Ter	coding	Pathogenic/Likely_pathogenic
8	43191590	C	A	C43191590A	HGSNAT	NM_152419.3(HGSNAT):c.1245C>A:p.Cys415Ter	coding	Pathogenic
8	43192257	C	T	C43192257T	HGSNAT	NM_152419.3(HGSNAT):c.1251-47C>T	noncoding	Benign
8	43192376	C	A	C43192376A	HGSNAT	NM_152419.3(HGSNAT):c.1323C>A:p.Tyr441Ter	coding	Pathogenic
8	43193756	G	A	G43193756A	HGSNAT	NM_152419.3(HGSNAT):c.1378-1G>A	noncoding	Pathogenic
8	43197027	T	C	T43197027C	HGSNAT	NM_152419.3(HGSNAT):c.1542+2T>C	noncoding	Pathogenic
8	43197045	C	T	C43197045T	HGSNAT	NM_152419.3(HGSNAT):c.1542+20C>T	noncoding	Benign
8	47396627	G	T	G47396627T	SPIDR	NM_001080394.4(SPIDR):c.776+1G>T	coding	Pathogenic
8	47407898	C	T	C47407898T	SPIDR	NM_001080394.4(SPIDR):c.814C>T:p.Arg272Ter	coding	Pathogenic
8	47407923	G	A	G47407923A	SPIDR	NM_001080394.4(SPIDR):c.839G>A:p.Trp280Ter	coding	Pathogenic
8	47776805	C	T	C47776805T	PRKDC	NM_006904.7(PRKDC):c.12182+39G>A	noncoding	Benign
8	47776870	T	G	T47776870G	PRKDC	NM_006904.7(PRKDC):c.12156A>C:p.Ala4052=	coding	Benign
8	47777505	A	G	A47777505G	PRKDC	NM_006904.7(PRKDC):c.12042+181T>C	noncoding	Benign
8	47777625	A	G	A47777625G	PRKDC	NM_006904.7(PRKDC):c.12042+61T>C	noncoding	Benign
8	47778546	G	A	G47778546A	PRKDC	NM_006904.7(PRKDC):c.11766C>T:p.Asp3922=	coding	Benign
8	47782649	C	T	C47782649T	PRKDC	NM_006904.7(PRKDC):c.11176-51G>A	noncoding	Benign
8	47782650	T	G	T47782650G	PRKDC	NM_006904.7(PRKDC):c.11176-52A>C	noncoding	Benign
8	47784037	T	C	T47784037C	PRKDC	NM_006904.7(PRKDC):c.11108-228A>G	noncoding	Benign
8	47788768	G	A	G47788768A	PRKDC	NM_006904.7(PRKDC):c.10902+138C>T	noncoding	Benign
8	47789060	A	G	A47789060G	PRKDC	NM_006904.7(PRKDC):c.10759-11T>C	noncoding	Benign/Likely_benign
8	47794774	T	G	T47794774G	PRKDC	NM_006904.7(PRKDC):c.10459-273A>C	noncoding	Benign
8	47798123	G	A	G47798123A	PRKDC	NM_006904.7(PRKDC):c.10458+114C>T	noncoding	Benign
8	47799121	C	G	C47799121G	PRKDC	NM_006904.7(PRKDC):c.10297+89G>C	noncoding	Benign
8	47799197	A	T	A47799197T	PRKDC	NM_006904.7(PRKDC):c.10297+13T>A	noncoding	Benign
8	47817185	G	A	G47817185A	PRKDC	NM_006904.7(PRKDC):c.9557+265C>T	noncoding	Benign
8	47817399	C	T	C47817399T	PRKDC	NM_006904.7(PRKDC):c.9557+51G>A	noncoding	Benign
8	47817839	C	A	C47817839A	PRKDC	NM_006904.7(PRKDC):c.9446-278G>T	noncoding	Benign
8	47828151	G	A	G47828151A	PRKDC	NM_006904.7(PRKDC):c.8577+17C>T	noncoding	Benign
8	47828330	T	G	T47828330G	PRKDC	NM_006904.7(PRKDC):c.8415A>C:p.Ala2805=	coding	Benign
8	47828610	A	G	A47828610G	PRKDC	NM_006904.7(PRKDC):c.8398-263T>C	noncoding	Benign
8	47834305	G	A	G47834305A	PRKDC	NM_006904.7(PRKDC):c.8043C>T:p.Ala2681=	coding	Benign
8	47839521	G	A	G47839521A	PRKDC	NM_006904.7(PRKDC):c.7455-275C>T	noncoding	Benign
8	47852528	T	C	T47852528C	PRKDC	NM_006904.7(PRKDC):c.7005+145A>G	noncoding	Benign
8	47854233	G	C	G47854233C	PRKDC	NM_006904.7(PRKDC):c.6762-19C>G	noncoding	Benign
8	47854957	C	G	C47854957G	PRKDC	NM_006904.7(PRKDC):c.6761+265G>C	noncoding	Benign
8	47854999	G	A	G47854999A	PRKDC	NM_006904.7(PRKDC):c.6761+223C>T	noncoding	Benign
8	47858682	T	C	T47858682C	PRKDC	NM_006904.7(PRKDC):c.6346-47A>G	noncoding	Benign
8	47858903	C	T	C47858903T	PRKDC	NM_006904.7(PRKDC):c.6291G>A:p.Leu2097=	coding	Benign
8	47859113	G	A	G47859113A	PRKDC	NM_006904.7(PRKDC):c.6208-127C>T	noncoding	Benign
8	47859853	C	T	C47859853T	PRKDC	NM_006904.7(PRKDC):c.6059-94G>A	noncoding	Benign
8	47862357	C	T	C47862357T	PRKDC	NM_006904.7(PRKDC):c.5919+16G>A	noncoding	Benign
8	47862644	C	T	C47862644T	PRKDC	NM_006904.7(PRKDC):c.5751-103G>A	noncoding	Benign
8	47863628	C	T	C47863628T	PRKDC	NM_006904.7(PRKDC):c.5572-51G>A	noncoding	Benign
8	47881610	T	C	T47881610C	PRKDC	NM_006904.7(PRKDC):c.4963-90A>G	noncoding	Benign
8	47882345	C	T	C47882345T	PRKDC	NM_006904.7(PRKDC):c.4777-248G>A	noncoding	Benign
8	47888479	A	G	A47888479G	PRKDC	NM_006904.7(PRKDC):c.4413+39T>C	noncoding	Benign
8	47888620	A	G	A47888620G	PRKDC	NM_006904.7(PRKDC):c.4311T>C:p.Tyr1437=	coding	Benign
8	47888631	C	T	C47888631T	PRKDC	NM_006904.7(PRKDC):c.4300G>A:p.Val1434Ile	coding	Benign
8	47889485	G	A	G47889485A	PRKDC	NM_006904.7(PRKDC):c.4072-263C>T	noncoding	Benign
8	47893252	C	T	C47893252T	PRKDC	NM_006904.7(PRKDC):c.3734G>A:p.Arg1245Gln	coding	Benign
8	47893253	G	A	G47893253A	PRKDC	NM_006904.7(PRKDC):c.3733C>T:p.Arg1245Trp	coding	Benign
8	47893255	A	G	A47893255G	PRKDC	NM_006904.7(PRKDC):c.3731T>C:p.Leu1244Pro	coding	Benign
8	47904533	G	C	G47904533C	PRKDC	NM_006904.7(PRKDC):c.3042+336C>G	noncoding	Benign
8	47904851	G	T	G47904851T	PRKDC	NM_006904.7(PRKDC):c.3042+18C>A	noncoding	Benign/Likely_benign
8	47913822	A	G	A47913822G	PRKDC	NM_006904.7(PRKDC):c.2781+79T>C	noncoding	Benign
8	47915416	G	A	G47915416A	PRKDC	NM_006904.7(PRKDC):c.2529C>T:p.Asn843=	coding	Benign/Likely_benign
8	47929595	C	T	C47929595T	PRKDC	NM_006904.7(PRKDC):c.2052+258G>A	noncoding	Benign
8	47930024	A	C	A47930024C	PRKDC	NM_006904.7(PRKDC):c.1893-12T>G	noncoding	Benign/Likely_benign
8	47933698	C	T	C47933698T	PRKDC	NM_006904.7(PRKDC):c.1623+267G>A	noncoding	Benign
8	47935145	T	G	T47935145G	PRKDC	NM_006904.7(PRKDC):c.1448-87A>C	noncoding	Benign
8	47939768	C	T	C47939768T	PRKDC	NM_006904.7(PRKDC):c.967-71G>A	noncoding	Benign
8	47954228	T	G	T47954228G	PRKDC	NM_006904.7(PRKDC):c.508+110A>C	noncoding	Benign
8	47954713	G	C	G47954713C	PRKDC	NM_006904.7(PRKDC):c.400-267C>G	noncoding	Benign
8	47956973	T	A	T47956973A	PRKDC	NM_006904.7(PRKDC):c.324+198A>T	noncoding	Benign
8	47956978	C	A	C47956978A	PRKDC	NM_006904.7(PRKDC):c.324+193G>T	noncoding	Benign
8	47957451	A	G	A47957451G	PRKDC	NM_006904.7(PRKDC):c.155-20T>C	noncoding	Benign
8	47959962	C	T	C47959962T	PRKDC	NM_006904.7(PRKDC):c.154+11G>A	noncoding	Benign
8	47966173	T	C	T47966173C	MCM4	NM_182746.3(MCM4):c.833-14T>C	noncoding	Benign/Likely_benign
8	47967505	C	T	C47967505T	MCM4	NM_182746.3(MCM4):c.1174+20C>T	noncoding	Benign
8	47970896	G	A	G47970896A	MCM4	NM_182746.3(MCM4):c.1800+20G>A	noncoding	Benign
8	47972851	T	C	T47972851C	MCM4	NM_182746.3(MCM4):c.1929-6T>C	noncoding	Benign/Likely_benign
8	47973010	G	C	G47973010C	MCM4	NM_182746.3(MCM4):c.2082G>C:p.Ala694=	coding	Benign/Likely_benign
8	48919690	A	G	A48919690G	SNAI2	NM_003068.5(SNAI2):c.625+206T>C	noncoding	Benign
8	48920157	C	T	C48920157T	SNAI2	NM_003068.5(SNAI2):c.364G>A:p.Ala122Thr	coding	Benign
8	48920718	G	A	G48920718A	SNAI2	NM_003068.5(SNAI2):c.80-277C>T	noncoding	Benign
8	54457917	C	T	C54457917T	SOX17	Single_allele	noncoding	Benign
8	54458059	C	T	C54458059T	SOX17	NM_022454.4(SOX17):c.-80C>T	noncoding	Benign
8	54458236	C	A	C54458236A	SOX17	NM_022454.4(SOX17):c.98C>A:p.Ala33Asp	coding	Benign
8	54458594	C	T	C54458594T	SOX17	NM_022454.4(SOX17):c.307+149C>T	noncoding	Benign
8	54458912	C	A	C54458912A	SOX17	NM_022454.4(SOX17):c.308-146C>A	noncoding	Benign
8	54458918	T	C	T54458918C	SOX17	NM_022454.4(SOX17):c.308-140T>C	noncoding	Benign
8	54458978	A	G	A54458978G	SOX17	NM_022454.4(SOX17):c.308-80A>G	noncoding	Benign
8	54459064	C	A	C54459064A	SOX17	NM_022454.4(SOX17):c.314C>A:p.Ser105Ter	coding	Pathogenic
8	54459217	T	C	T54459217C	SOX17	NM_022454.4(SOX17):c.467T>C:p.Leu156Pro	coding	Benign
8	54459335	G	T	G54459335T	SOX17	NM_022454.4(SOX17):c.585G>T:p.Leu195=	coding	Benign
8	54459698	A	G	A54459698G	SOX17	NM_022454.4(SOX17):c.948A>G:p.Gln316=	coding	Benign
8	54459956	C	G	C54459956G	SOX17	NM_022454.4(SOX17):c.1206C>G:p.Ala402=	coding	Benign
8	54621407	C	T	C54621407T	RP1	NM_006269.2(RP1):c.441C>T:p.Pro147=	coding	Benign
8	54621453	G	A	G54621453A	RP1	NM_006269.2(RP1):c.487G>A:p.Asp163Asn	coding	Benign/Likely_benign
8	54621498	C	T	C54621498T	RP1	NM_006269.2(RP1):c.532C>T:p.Gln178Ter	coding	Pathogenic
8	54622197	T	G	T54622197G	RP1	NM_006269.2(RP1):c.696T>G:p.Tyr232Ter	coding	Pathogenic
8	54624929	G	A	G54624929A	RP1	NM_006269.2(RP1):c.1047G>A:p.Trp349Ter	coding	Pathogenic
8	54625008	C	T	C54625008T	RP1	NM_006269.2(RP1):c.1126C>T:p.Arg376Ter	coding	Pathogenic/Likely_pathogenic
8	54625326	C	T	C54625326T	RP1	NM_006269.2(RP1):c.1444C>T:p.Gln482Ter	coding	Pathogenic
8	54625614	G	T	G54625614T	RP1	NM_006269.2(RP1):c.1732G>T:p.Glu578Ter	coding	Pathogenic
8	54625899	A	T	A54625899T	RP1	NM_006269.2(RP1):c.2017A>T:p.Lys673Ter	coding	Pathogenic
8	54625937	T	G	T54625937G	RP1	NM_006269.2(RP1):c.2055T>G:p.Tyr685Ter	coding	Pathogenic
8	54626076	C	T	C54626076T	RP1	NM_006269.2(RP1):c.2194C>T:p.Gln732Ter	coding	Pathogenic
8	54626097	G	T	G54626097T	RP1	NM_006269.2(RP1):c.2215G>T:p.Glu739Ter	coding	Pathogenic
8	54626167	T	A	T54626167A	RP1	NM_006269.2(RP1):c.2285T>A:p.Leu762Ter	coding	Pathogenic
8	54626187	A	T	A54626187T	RP1	NM_006269.2(RP1):c.2305A>T:p.Lys769Ter	coding	Pathogenic/Likely_pathogenic
8	54626203	T	G	T54626203G	RP1	NM_006269.2(RP1):c.2321T>G:p.Leu774Ter	coding	Pathogenic
8	54626267	C	T	C54626267T	RP1	NM_006269.2(RP1):c.2385C>T:p.Ile795=	coding	Benign/Likely_benign
8	54626614	C	G	C54626614G	RP1	NM_006269.2(RP1):c.2732C>G:p.Ser911Ter	coding	Pathogenic
8	54626820	G	A	G54626820A	RP1	NM_006269.2(RP1):c.2938G>A:p.Gly980Ser	coding	Benign/Likely_benign
8	54626906	G	A	G54626906A	RP1	NM_006269.2(RP1):c.3024G>A:p.Gln1008=	coding	Benign
8	54627831	C	T	C54627831T	RP1	NM_006269.2(RP1):c.3949C>T:p.Gln1317Ter	coding	Pathogenic
8	54627987	C	T	C54627987T	RP1	NM_006269.2(RP1):c.4105C>T:p.Gln1369Ter	coding	Pathogenic
8	54628209	C	T	C54628209T	RP1	NM_006269.2(RP1):c.4327C>T:p.Arg1443Trp	coding	Pathogenic/Likely_pathogenic
8	54628853	T	A	T54628853A	RP1	NM_006269.2(RP1):c.4971T>A:p.Cys1657Ter	coding	Pathogenic
8	54628935	C	T	C54628935T	RP1	NM_006269.2(RP1):c.5053C>T:p.Gln1685Ter	coding	Pathogenic
8	54628948	G	A	G54628948A	RP1	NM_006269.2(RP1):c.5066G>A:p.Ser1689Asn	coding	Benign
8	54629040	G	T	G54629040T	RP1	NM_006269.2(RP1):c.5158G>T:p.Glu1720Ter	coding	Pathogenic
8	54629628	C	T	C54629628T	RP1	NM_006269.2(RP1):c.5746C>T:p.Gln1916Ter	coding	Pathogenic/Likely_pathogenic
8	54629763	C	T	C54629763T	RP1	NM_006269.2(RP1):c.5881C>T:p.Gln1961Ter	coding	Pathogenic
8	54629853	C	T	C54629853T	RP1	NM_006269.2(RP1):c.5971C>T:p.Gln1991Ter	coding	Pathogenic
8	54630028	C	A	C54630028A	RP1	NM_006269.2(RP1):c.6146C>A:p.Ser2049Ter	coding	Pathogenic
8	54630036	C	T	C54630036T	RP1	NM_006269.2(RP1):c.6154C>T:p.Gln2052Ter	coding	Pathogenic
8	54720128	G	A	G54720128A	RP1	NM_001375654.1(RP1):c.2212-1G>A	noncoding	Pathogenic
8	55950744	C	T	C55950744T	LYN	NM_002350.4(LYN):c.447C>T:p.Ser149=	coding	Benign
8	55953893	G	A	G55953893A	LYN	NM_002350.4(LYN):c.699G>A:p.Lys233=	coding	Benign
8	55953935	C	T	C55953935T	LYN	NM_002350.4(LYN):c.741C>T:p.Ile247=	coding	Benign
8	55966911	A	G	A55966911G	LYN	NM_002350.4(LYN):c.973+14A>G	noncoding	Benign
8	55969757	A	G	A55969757G	LYN	NM_002350.4(LYN):c.1014A>G:p.Lys338=	coding	Benign
8	56009921	C	T	C56009921T	LYN	NM_002350.4(LYN):c.1350C>T:p.Ala450=	coding	Benign
8	56009990	T	C	T56009990C	LYN	NM_002350.4(LYN):c.1419T>C:p.Tyr473=	coding	Benign
8	56069703	C	T	C56069703T	RPS20	NM_001146227.3(RPS20):c.*35G>A	noncoding	Benign
8	56072854	C	G	C56072854G	RPS20	NM_001023.3(RPS20):c.*236G>C	coding	Benign
8	56073179	A	G	A56073179G	RPS20	NM_001023.4(RPS20):c.271T>C:p.Leu91=	coding	Benign/Likely_benign
8	56073255	T	C	T56073255C	RPS20	NM_001023.4(RPS20):c.195A>G:p.Thr65=	coding	Benign
8	56073453	C	G	C56073453G	RPS20	NM_001023.4(RPS20):c.178-181G>C	noncoding	Benign
8	56073515	T	C	T56073515C	RPS20	NM_001023.4(RPS20):c.177+180A>G	noncoding	Benign
8	56073619	C	G	C56073619G	RPS20	NM_001023.4(RPS20):c.177+76G>C	noncoding	Benign
8	56073676	C	T	C56073676T	RPS20	NM_001023.4(RPS20):c.177+19G>A	noncoding	Benign
8	56073858	A	G	A56073858G	RPS20	NM_001023.4(RPS20):c.104-90T>C	coding	Benign
8	56073972	C	G	C56073972G	RPS20	NM_001023.4(RPS20):c.103+88G>C	noncoding	Benign
8	56074162	A	G	A56074162G	RPS20	NM_001023.4(RPS20):c.4-3T>C	noncoding	Benign
8	56074170	A	G	A56074170G	RPS20	NM_001023.4(RPS20):c.4-11T>C	noncoding	Benign
8	56074178	A	G	A56074178G	RPS20	NM_001023.4(RPS20):c.4-19T>C	noncoding	Benign
8	56074249	C	T	C56074249T	RPS20	NM_001023.4(RPS20):c.4-90G>A	noncoding	Benign
8	56074324	G	C	G56074324C	RPS20	NM_001023.4(RPS20):c.3+57C>G	noncoding	Benign
8	56074368	A	C	A56074368C	RPS20	NM_001023.4(RPS20):c.3+13T>G	noncoding	Benign
8	56074389	T	C	T56074389C	RPS20	NM_001023.4(RPS20):c.-6A>G	noncoding	Benign
8	56074500	C	G	C56074500G	RPS20	NM_001023.4(RPS20):c.-117G>C	noncoding	Benign
8	56074681	C	G	C56074681G	RPS20	NR_149110.1(CERNA3):n.90C>G	noncoding	Benign
8	56074699	G	C	G56074699C	RPS20	NR_149110.1(CERNA3):n.108G>C	noncoding	Benign
8	56074746	C	G	C56074746G	RPS20	NR_149110.1(CERNA3):n.155C>G	noncoding	Benign
8	56074770	G	C	G56074770C	RPS20	NR_149110.1(CERNA3):n.179G>C	noncoding	Benign
8	56074788	T	A	T56074788A	RPS20	NR_149110.1(CERNA3):n.197T>A	noncoding	Benign
8	56074789	C	T	C56074789T	RPS20	NR_149110.1(CERNA3):n.198C>T	noncoding	Benign
8	56074895	C	T	C56074895T	RPS20	Single_allele	noncoding	Benign
8	56166374	G	T	G56166374T	PLAG1	NM_002655.3(PLAG1):c.1372C>A:p.Pro458Thr	coding	Benign
8	56963909	C	T	C56963909T	BPNT2	NM_017813.5(BPNT2):c.964G>A:p.Glu322Lys	coding	Benign/Likely_benign
8	56965878	C	T	C56965878T	BPNT2	NM_017813.5(BPNT2):c.808+313G>A	noncoding	Benign
8	56966431	T	C	T56966431C	BPNT2	NM_017813.5(BPNT2):c.647-79A>G	noncoding	Benign
8	56979959	A	G	A56979959G	BPNT2	NM_017813.5(BPNT2):c.550+76T>C	noncoding	Benign
8	56993138	G	C	G56993138C	BPNT2	NM_017813.5(BPNT2):c.387+61C>G	noncoding	Benign
8	56994015	T	A	T56994015A	BPNT2	Single_allele	noncoding	Benign
8	58491787	T	C	T58491787C	CYP7A1	NM_000780.4(CYP7A1):c.1216-13A>G	noncoding	Benign
8	58491882	A	G	A58491882G	CYP7A1	NM_000780.4(CYP7A1):c.1216-108T>C	noncoding	Benign
8	58492509	C	T	C58492509T	CYP7A1	NM_000780.4(CYP7A1):c.1059G>A:p.Ser353=	coding	Benign/Likely_benign
8	58494495	A	G	A58494495G	CYP7A1	NM_000780.4(CYP7A1):c.1039+11T>C	noncoding	Benign/Likely_benign
8	58494506	C	T	C58494506T	CYP7A1	NM_000780.4(CYP7A1):c.1039G>A:p.Asp347Asn	coding	Benign
8	58496814	T	C	T58496814C	CYP7A1	NM_000780.4(CYP7A1):c.698A>G:p.Asn233Ser	coding	Benign
8	58497201	A	G	A58497201G	CYP7A1	NM_000780.4(CYP7A1):c.322-11T>C	noncoding	Benign
8	58497370	A	C	A58497370C	CYP7A1	NM_000780.4(CYP7A1):c.322-180T>G	noncoding	Benign
8	58497459	T	C	T58497459C	CYP7A1	NM_000780.4(CYP7A1):c.322-269A>G	noncoding	Benign
8	58498073	C	T	C58498073T	CYP7A1	NM_000780.4(CYP7A1):c.321+156G>A	noncoding	Benign
8	58498196	A	G	A58498196G	CYP7A1	NM_000780.4(CYP7A1):c.321+33T>C	noncoding	Benign
8	58498253	T	C	T58498253C	CYP7A1	NM_000780.4(CYP7A1):c.297A>G:p.Lys99=	coding	Benign/Likely_benign
8	58498483	G	A	G58498483A	CYP7A1	NM_000780.4(CYP7A1):c.81-14C>T	noncoding	Benign
8	58500365	G	T	G58500365T	CYP7A1	Single_allele	noncoding	Benign
8	60209160	T	C	T60209160C	CA8	NM_004056.6(CA8):c.739-241A>G	noncoding	Benign
8	60222436	G	A	G60222436A	CA8	NM_004056.6(CA8):c.738+213C>T	noncoding	Benign
8	60226591	T	C	T60226591C	CA8	NM_004056.6(CA8):c.576+282A>G	noncoding	Benign
8	60226721	C	T	C60226721T	CA8	NM_004056.6(CA8):c.576+152G>A	noncoding	Benign
8	60226760	C	T	C60226760T	CA8	NM_004056.6(CA8):c.576+113G>A	noncoding	Benign
8	60232231	G	T	G60232231T	CA8	NM_004056.6(CA8):c.513+53C>A	noncoding	Benign
8	60232587	A	G	A60232587G	CA8	NM_004056.6(CA8):c.418-208T>C	noncoding	Benign
8	60265103	G	C	G60265103C	CA8	NM_004056.6(CA8):c.417+822C>G	noncoding	Benign
8	60265729	G	A	G60265729A	CA8	NM_004056.6(CA8):c.417+196C>T	noncoding	Benign
8	60279975	C	T	C60279975T	CA8	NM_004056.6(CA8):c.101-95G>A	noncoding	Benign
8	60279983	G	A	G60279983A	CA8	NM_004056.6(CA8):c.101-103C>T	noncoding	Benign
8	60280811	G	A	G60280811A	CA8	NM_004056.6(CA8):c.100+237C>T	noncoding	Benign
8	60280888	A	C	A60280888C	CA8	NM_004056.6(CA8):c.100+160T>G	noncoding	Benign
8	60280894	A	G	A60280894G	CA8	NM_004056.6(CA8):c.100+154T>C	noncoding	Benign
8	60280963	A	G	A60280963G	CA8	NM_004056.6(CA8):c.100+85T>C	noncoding	Benign
8	60280967	G	A	G60280967A	CA8	NM_004056.6(CA8):c.100+81C>T	noncoding	Benign
8	60281011	C	T	C60281011T	CA8	NM_004056.6(CA8):c.100+37G>A	noncoding	Benign
8	60281029	C	T	C60281029T	CA8	NM_004056.6(CA8):c.100+19G>A	noncoding	Benign
8	60281201	T	G	T60281201G	CA8	NM_004056.6(CA8):c.-54A>C	noncoding	Benign
8	60281250	A	G	A60281250G	CA8	NM_004056.6(CA8):c.-103T>C	noncoding	Benign
8	60281269	A	G	A60281269G	CA8	NM_004056.6(CA8):c.-122T>C	noncoding	Benign
8	60281284	C	G	C60281284G	CA8	NM_004056.6(CA8):c.-137G>C	noncoding	Benign
8	60281370	C	T	C60281370T	CA8	NM_004056.6(CA8):c.-223G>A	noncoding	Benign
8	60281611	T	G	T60281611G	CA8	Single_allele	noncoding	Benign
8	60281685	C	T	C60281685T	CA8	Single_allele	noncoding	Benign
8	60741037	T	C	T60741037C	CHD7	NM_017780.4(CHD7):c.-174-222T>C	noncoding	Benign
8	60741047	C	A	C60741047A	CHD7	NM_017780.4(CHD7):c.-174-212C>A	noncoding	Benign
8	60741530	C	G	C60741530G	CHD7	NM_017780.4(CHD7):c.98C>G:p.Pro33Arg	coding	Benign/Likely_benign
8	60741664	C	T	C60741664T	CHD7	NM_017780.4(CHD7):c.232C>T:p.Gln78Ter	coding	Pathogenic
8	60741895	C	T	C60741895T	CHD7	NM_017780.4(CHD7):c.463C>T:p.Gln155Ter	coding	Pathogenic
8	60742066	C	T	C60742066T	CHD7	NM_017780.4(CHD7):c.634C>T:p.Gln212Ter	coding	Pathogenic
8	60742075	C	T	C60742075T	CHD7	NM_017780.4(CHD7):c.643C>T:p.Gln215Ter	coding	Pathogenic
8	60742273	C	T	C60742273T	CHD7	NM_017780.4(CHD7):c.841C>T:p.Gln281Ter	coding	Pathogenic
8	60742591	C	T	C60742591T	CHD7	NM_017780.4(CHD7):c.1159C>T:p.Gln387Ter	coding	Pathogenic
8	60742904	T	A	T60742904A	CHD7	NM_017780.4(CHD7):c.1472T>A:p.Ile491Asn	coding	Benign
8	60742905	C	T	C60742905T	CHD7	NM_017780.4(CHD7):c.1473C>T:p.Ile491=	coding	Benign
8	60743035	C	T	C60743035T	CHD7	NM_017780.4(CHD7):c.1603C>T:p.Gln535Ter	coding	Pathogenic
8	60743227	T	C	T60743227C	CHD7	NM_017780.4(CHD7):c.1665+130T>C	noncoding	Benign
8	60780985	A	G	A60780985G	CHD7	NM_017780.4(CHD7):c.1666-15A>G	noncoding	Benign/Likely_benign
8	60781006	C	G	C60781006G	CHD7	NM_017780.4(CHD7):c.1672C>G:p.Pro558Ala	coding	Benign/Likely_benign
8	60794787	G	A	G60794787A	CHD7	NM_017780.4(CHD7):c.2097-199G>A	noncoding	Benign
8	60794984	A	G	A60794984G	CHD7	NM_017780.4(CHD7):c.2097-2A>G	noncoding	Pathogenic
8	60800056	A	T	A60800056T	CHD7	NM_017780.4(CHD7):c.2239-332A>T	noncoding	Benign
8	60800372	T	A	T60800372A	CHD7	NM_017780.4(CHD7):c.2239-16T>A	noncoding	Pathogenic
8	60801686	A	G	A60801686G	CHD7	NM_017780.4(CHD7):c.2442+93A>G	noncoding	Benign
8	60808342	T	A	T60808342A	CHD7	NM_017780.4(CHD7):c.2498+70T>A	noncoding	Benign
8	60816117	C	G	C60816117G	CHD7	NM_017780.4(CHD7):c.2499-270C>G	noncoding	Benign
8	60816119	C	G	C60816119G	CHD7	NM_017780.4(CHD7):c.2499-268C>G	noncoding	Benign
8	60816129	C	G	C60816129G	CHD7	NM_017780.4(CHD7):c.2499-258C>G	noncoding	Benign
8	60816131	C	G	C60816131G	CHD7	NM_017780.4(CHD7):c.2499-256C>G	noncoding	Benign
8	60816475	C	T	C60816475T	CHD7	NM_017780.4(CHD7):c.2587C>T:p.Gln863Ter	coding	Pathogenic
8	60816594	T	C	T60816594C	CHD7	NM_017780.4(CHD7):c.2613+93T>C	noncoding	Benign
8	60819846	A	C	A60819846C	CHD7	NM_017780.4(CHD7):c.2614-161A>C	noncoding	Benign
8	60820068	G	A	G60820068A	CHD7	NM_017780.4(CHD7):c.2675G>A:p.Arg892His	coding	Benign/Likely_benign
8	60821736	A	G	A60821736G	CHD7	NM_017780.4(CHD7):c.2698-54A>G	noncoding	Benign
8	60821945	G	C	G60821945C	CHD7	NM_017780.4(CHD7):c.2835+18G>C	noncoding	Benign
8	60821951	A	T	A60821951T	CHD7	NM_017780.4(CHD7):c.2835+24A>T	noncoding	Benign/Likely_benign
8	60822147	T	C	T60822147C	CHD7	NM_017780.4(CHD7):c.2957+2T>C	noncoding	Pathogenic
8	60822397	C	T	C60822397T	CHD7	NM_017780.4(CHD7):c.2958-106C>T	noncoding	Benign
8	60822767	T	G	T60822767G	CHD7	NM_017780.4(CHD7):c.3201+21T>G	noncoding	Benign
8	60824021	G	C	G60824021C	CHD7	NM_017780.4(CHD7):c.3378+5G>C	noncoding	Pathogenic
8	60824224	A	G	A60824224G	CHD7	NM_017780.4(CHD7):c.3378+208A>G	noncoding	Benign
8	60828630	A	G	A60828630G	CHD7	NM_017780.4(CHD7):c.3379-33A>G	noncoding	Benign/Likely_benign
8	60828807	G	A	G60828807A	CHD7	NM_017780.4(CHD7):c.3522+1G>A	coding	Pathogenic
8	60828819	T	A	T60828819A	CHD7	NM_017780.4(CHD7):c.3522+13T>A	noncoding	Benign/Likely_benign
8	60830255	A	G	A60830255G	CHD7	NM_017780.4(CHD7):c.3523-67A>G	noncoding	Benign
8	60830594	C	T	C60830594T	CHD7	NM_017780.4(CHD7):c.3778+17C>T	noncoding	Benign/Likely_benign
8	60836071	A	G	A60836071G	CHD7	NM_017780.4(CHD7):c.3779-2A>G	noncoding	Pathogenic
8	60836317	A	G	A60836317G	CHD7	NM_017780.4(CHD7):c.3989+34A>G	noncoding	Benign
8	60836334	C	A	C60836334A	CHD7	NM_017780.4(CHD7):c.3989+51C>A	noncoding	Benign
8	60836736	G	T	G60836736T	CHD7	NM_017780.4(CHD7):c.3990-81G>T	noncoding	Benign
8	60836826	T	G	T60836826G	CHD7	NM_017780.4(CHD7):c.3999T>G:p.Tyr1333Ter	coding	Pathogenic
8	60836863	C	T	C60836863T	CHD7	NM_017780.4(CHD7):c.4036C>T:p.Gln1346Ter	coding	Pathogenic
8	60837058	C	T	C60837058T	CHD7	NM_017780.4(CHD7):c.4185+46C>T	noncoding	Benign
8	60837102	G	C	G60837102C	CHD7	NM_017780.4(CHD7):c.4185+90G>C	noncoding	Benign
8	60837972	A	G	A60837972G	CHD7	NM_017780.4(CHD7):c.4354-104A>G	noncoding	Benign
8	60838075	G	A	G60838075A	CHD7	NM_017780.4(CHD7):c.4354-1G>A	noncoding	Pathogenic
8	60838082	C	T	C60838082T	CHD7	NM_017780.4(CHD7):c.4360C>T:p.Gln1454Ter	coding	Pathogenic
8	60841350	C	T	C60841350T	CHD7	NM_017780.4(CHD7):c.4534-294C>T	noncoding	Benign
8	60841703	G	A	G60841703A	CHD7	NM_017780.4(CHD7):c.4593G>A:p.Trp1531Ter	coding	Pathogenic
8	60842085	T	C	T60842085C	CHD7	NM_017780.4(CHD7):c.4850+33T>C	noncoding	Benign
8	60842128	A	G	A60842128G	CHD7	NM_017780.4(CHD7):c.4850+76A>G	noncoding	Benign
8	60842154	C	T	C60842154T	CHD7	NM_017780.4(CHD7):c.4850+102C>T	noncoding	Benign
8	60844833	C	T	C60844833T	CHD7	NM_017780.4(CHD7):c.4851-31C>T	noncoding	Benign/Likely_benign
8	60844919	G	T	G60844919T	CHD7	NM_017780.4(CHD7):c.4906G>T:p.Glu1636Ter	coding	Pathogenic
8	60845007	G	A	G60845007A	CHD7	NM_017780.4(CHD7):c.4994G>A:p.Trp1665Ter	coding	Pathogenic
8	60845225	A	G	A60845225G	CHD7	NM_017780.4(CHD7):c.5051-25A>G	noncoding	Benign
8	60848497	C	T	C60848497T	CHD7	NM_017780.4(CHD7):c.5211-18C>T	noncoding	Benign
8	60849195	C	T	C60849195T	CHD7	NM_017780.4(CHD7):c.5404+41C>T	noncoding	Benign
8	60850317	C	G	C60850317G	CHD7	NM_017780.4(CHD7):c.5405-176C>G	noncoding	Benign
8	60851094	A	G	A60851094G	CHD7	NM_017780.4(CHD7):c.5597A>G:p.Asp1866Gly	coding	Pathogenic
8	60851330	A	G	A60851330G	CHD7	NM_017780.4(CHD7):c.5665+11A>G	noncoding	Benign
8	60852030	G	T	G60852030T	CHD7	NM_017780.4(CHD7):c.5677G>T:p.Glu1893Ter	coding	Pathogenic
8	60852349	C	G	C60852349G	CHD7	NM_017780.4(CHD7):c.5894+102C>G	noncoding	Benign
8	60852420	G	A	G60852420A	CHD7	NM_017780.4(CHD7):c.5895-78G>A	noncoding	Benign
8	60852496	A	T	A60852496T	CHD7	NM_017780.4(CHD7):c.5895-2A>T	noncoding	Pathogenic
8	60852501	G	A	G60852501A	CHD7	NM_017780.4(CHD7):c.5898G>A:p.Trp1966Ter	coding	Pathogenic
8	60852683	G	A	G60852683A	CHD7	NM_017780.4(CHD7):c.6080G>A:p.Arg2027Gln	coding	Benign/Likely_benign
8	60852848	C	T	C60852848T	CHD7	NM_017780.4(CHD7):c.6123C>T:p.Ser2041=	coding	Benign/Likely_benign
8	60852942	C	T	C60852942T	CHD7	NM_017780.4(CHD7):c.6217C>T:p.Gln2073Ter	coding	Pathogenic
8	60853078	A	G	A60853078G	CHD7	NM_017780.4(CHD7):c.6353A>G:p.Asn2118Ser	coding	Benign/Likely_benign
8	60853208	T	A	T60853208A	CHD7	NM_017780.4(CHD7):c.6483T>A:p.His2161Gln	coding	Benign/Likely_benign
8	60853239	G	T	G60853239T	CHD7	NM_017780.4(CHD7):c.6514G>T:p.Glu2172Ter	coding	Pathogenic
8	60853254	G	A	G60853254A	CHD7	NM_017780.4(CHD7):c.6529G>A:p.Glu2177Lys	coding	Benign/Likely_benign
8	60853299	G	T	G60853299T	CHD7	NM_017780.4(CHD7):c.6574G>T:p.Glu2192Ter	coding	Pathogenic
8	60854126	G	C	G60854126C	CHD7	NM_017780.4(CHD7):c.6776-237G>C	noncoding	Benign
8	60856027	G	C	G60856027C	CHD7	NM_017780.4(CHD7):c.6989G>C:p.Gly2330Ala	coding	Benign/Likely_benign
8	60856198	C	G	C60856198G	CHD7	NM_017780.4(CHD7):c.7160C>G:p.Ser2387Ter	coding	Pathogenic
8	60856721	C	T	C60856721T	CHD7	NM_017780.4(CHD7):c.7441C>T:p.Gln2481Ter	coding	Pathogenic
8	60856765	G	T	G60856765T	CHD7	NM_017780.4(CHD7):c.7485G>T:p.Arg2495Ser	coding	Benign
8	60856956	G	A	G60856956A	CHD7	NM_017780.4(CHD7):c.7608+68G>A	noncoding	Benign
8	60860847	C	A	C60860847A	CHD7	NM_017780.4(CHD7):c.7609-57C>A	noncoding	Benign
8	60860979	C	T	C60860979T	CHD7	NM_017780.4(CHD7):c.7684C>T:p.Gln2562Ter	coding	Pathogenic
8	60861058	A	G	A60861058G	CHD7	NM_017780.4(CHD7):c.7763A>G:p.Asn2588Ser	coding	Pathogenic
8	60862616	A	G	A60862616G	CHD7	NM_017780.4(CHD7):c.8040A>G:p.Ala2680=	coding	Benign
8	60862799	C	A	C60862799A	CHD7	NM_017780.4(CHD7):c.8076+147C>A	noncoding	Benign
8	60864956	T	A	T60864956A	CHD7	NM_017780.4(CHD7):c.8077-60T>A	noncoding	Benign
8	60865507	C	T	C60865507T	CHD7	NM_017780.4(CHD7):c.8568C>T:p.Asp2856=	coding	Benign/Likely_benign
8	60865679	G	A	G60865679A	CHD7	NM_017780.4(CHD7):c.8740G>A:p.Gly2914Arg	coding	Benign/Likely_benign
8	61503515	G	A	G61503515A	ASPH	NM_004318.4(ASPH):c.2127-6C>T	noncoding	Benign
8	61503614	G	A	G61503614A	ASPH	NM_004318.4(ASPH):c.2127-105C>T	noncoding	Benign
8	61525971	A	G	A61525971G	ASPH	NM_004318.4(ASPH):c.1900+6T>C	noncoding	Benign
8	61526095	C	T	C61526095T	ASPH	NM_004318.4(ASPH):c.1782G>A:p.Trp594Ter	coding	Pathogenic
8	61548140	G	T	G61548140T	ASPH	NM_004318.4(ASPH):c.1695C>A:p.Tyr565Ter	coding	Pathogenic/Likely_pathogenic
8	61548309	C	T	C61548309T	ASPH	NM_004318.4(ASPH):c.1627-101G>A	noncoding	Benign
8	61548327	A	G	A61548327G	ASPH	NM_004318.4(ASPH):c.1627-119T>C	noncoding	Benign
8	61548335	G	A	G61548335A	ASPH	NM_004318.4(ASPH):c.1627-127C>T	noncoding	Benign
8	61548459	T	C	T61548459C	ASPH	NM_004318.4(ASPH):c.1627-251A>G	noncoding	Benign
8	61552923	C	T	C61552923T	ASPH	NM_004318.4(ASPH):c.1626+108G>A	noncoding	Benign
8	61553021	T	C	T61553021C	ASPH	NM_004318.4(ASPH):c.1626+10A>G	noncoding	Benign
8	61553236	T	C	T61553236C	ASPH	NM_004318.4(ASPH):c.1537-116A>G	noncoding	Benign
8	61553255	G	T	G61553255T	ASPH	NM_004318.4(ASPH):c.1537-135C>A	noncoding	Benign
8	61555639	C	T	C61555639T	ASPH	NM_004318.4(ASPH):c.1536+285G>A	noncoding	Benign
8	61562538	T	A	T61562538A	ASPH	NM_004318.4(ASPH):c.1437+206A>T	noncoding	Benign
8	61562601	A	G	A61562601G	ASPH	NM_004318.4(ASPH):c.1437+143T>C	noncoding	Benign
8	61562717	C	T	C61562717T	ASPH	NM_004318.4(ASPH):c.1437+27G>A	noncoding	Benign
8	61562959	G	C	G61562959C	ASPH	NM_004318.4(ASPH):c.1301-79C>G	noncoding	Benign
8	61567366	T	A	T61567366A	ASPH	NM_004318.4(ASPH):c.1150-48A>T	noncoding	Benign
8	61567375	C	T	C61567375T	ASPH	NM_004318.4(ASPH):c.1150-57G>A	noncoding	Benign
8	61567511	G	A	G61567511A	ASPH	NM_004318.4(ASPH):c.1150-193C>T	noncoding	Benign
8	61576655	T	A	T61576655A	ASPH	NM_004318.4(ASPH):c.1149+117A>T	noncoding	Benign
8	61576775	C	T	C61576775T	ASPH	NM_004318.4(ASPH):c.1146G>A:p.Ala382=	coding	Benign
8	61576979	A	C	A61576979C	ASPH	NM_004318.4(ASPH):c.1063-121T>G	noncoding	Benign
8	61583856	C	T	C61583856T	ASPH	NM_004318.4(ASPH):c.1062+88G>A	noncoding	Benign
8	61618752	T	A	T61618752A	ASPH	NM_004318.4(ASPH):c.976+226A>T	noncoding	Benign
8	61619111	T	C	T61619111C	ASPH	NM_004318.4(ASPH):c.935-92A>G	noncoding	Benign
8	61619139	T	C	T61619139C	ASPH	NM_004318.4(ASPH):c.935-120A>G	noncoding	Benign
8	61619338	G	A	G61619338A	ASPH	NM_004318.4(ASPH):c.935-319C>T	noncoding	Benign
8	61626385	T	A	T61626385A	ASPH	NM_004318.4(ASPH):c.934+7298A>T	noncoding	Benign
8	61638377	A	C	A61638377C	ASPH	NM_004318.4(ASPH):c.791-14T>G	noncoding	Benign
8	61643175	T	C	T61643175C	ASPH	NM_004318.4(ASPH):c.757+211A>G	noncoding	Benign
8	61644031	C	T	C61644031T	ASPH	NM_004318.4(ASPH):c.653-30G>A	noncoding	Benign
8	61644605	T	C	T61644605C	ASPH	NM_004318.4(ASPH):c.647A>G:p.Glu216Gly	coding	Benign
8	61646574	C	T	C61646574T	ASPH	NM_004318.4(ASPH):c.619+176G>A	noncoding	Benign
8	61651159	G	T	G61651159T	ASPH	NM_004318.4(ASPH):c.416-35C>A	noncoding	Benign
8	61651205	A	G	A61651205G	ASPH	NM_004318.4(ASPH):c.416-81T>C	noncoding	Benign
8	61653338	G	A	G61653338A	ASPH	NM_004318.4(ASPH):c.415+230C>T	noncoding	Benign
8	61665272	A	G	A61665272G	ASPH	NM_004318.4(ASPH):c.323-11612T>C	coding	Benign/Likely_benign
8	61665279	T	C	T61665279C	ASPH	NM_004318.4(ASPH):c.323-11619A>G	coding	Pathogenic
8	61665439	C	G	C61665439G	ASPH	NM_004318.4(ASPH):c.323-11779G>C	coding	Pathogenic
8	61665912	G	A	G61665912A	ASPH	NM_004318.4(ASPH):c.323-12252C>T	noncoding	Benign
8	61668248	T	G	T61668248G	ASPH	NM_004318.4(ASPH):c.322+12720A>C	coding	Pathogenic
8	61681105	T	G	T61681105G	ASPH	NM_004318.4(ASPH):c.254-69A>C	noncoding	Benign
8	61681254	G	T	G61681254T	ASPH	NM_004318.4(ASPH):c.254-218C>A	noncoding	Benign
8	61682509	C	T	C61682509T	ASPH	NM_004318.4(ASPH):c.254-1473G>A	noncoding	Benign
8	61684044	A	G	A61684044G	ASPH	NM_004318.4(ASPH):c.248T>C:p.Val83Ala	coding	Pathogenic
8	61714024	C	A	C61714024A	ASPH	NM_004318.4(ASPH):c.103+245G>T	noncoding	Benign
8	61714050	G	C	G61714050C	ASPH	NM_004318.4(ASPH):c.103+219C>G	noncoding	Benign
8	61714403	C	T	C61714403T	ASPH	NM_004318.4(ASPH):c.-32G>A	noncoding	Benign
8	61714445	A	G	A61714445G	ASPH	NM_004318.4(ASPH):c.-74T>C	noncoding	Benign
8	61714548	C	G	C61714548G	ASPH	NM_004318.4(ASPH):c.-177G>C	noncoding	Benign
8	61714951	C	G	C61714951G	ASPH	Single_allele	noncoding	Benign
8	63061458	G	A	G63061458A	TTPA	NM_000370.3(TTPA):c.664-33C>T	noncoding	Benign
8	63061659	A	G	A63061659G	TTPA	NM_000370.3(TTPA):c.664-234T>C	noncoding	Benign
8	63064118	C	T	C63064118T	TTPA	NM_000370.3(TTPA):c.663+88G>A	noncoding	Benign
8	63064205	C	T	C63064205T	TTPA	NM_000370.3(TTPA):c.663+1G>A	noncoding	Pathogenic
8	63064317	C	A	C63064317A	TTPA	NM_000370.3(TTPA):c.553-1G>T	coding	Pathogenic
8	63065904	C	T	C63065904T	TTPA	NM_000370.3(TTPA):c.552G>A:p.Thr184=	coding	Pathogenic/Likely_pathogenic
8	63072993	G	T	G63072993T	TTPA	NM_000370.3(TTPA):c.300C>A:p.Tyr100Ter	coding	Pathogenic
8	63073058	C	A	C63073058A	TTPA	NM_000370.3(TTPA):c.235G>T:p.Glu79Ter	coding	Pathogenic
8	63073090	T	C	T63073090C	TTPA	NM_000370.3(TTPA):c.205-2A>G	noncoding	Pathogenic/Likely_pathogenic
8	63073106	A	C	A63073106C	TTPA	NM_000370.3(TTPA):c.205-18T>G	noncoding	Benign
8	63073298	C	T	C63073298T	TTPA	NM_000370.3(TTPA):c.205-210G>A	noncoding	Benign
8	63085672	C	T	C63085672T	TTPA	NM_000370.3(TTPA):c.204+146G>A	noncoding	Benign
8	63085769	G	C	G63085769C	TTPA	NM_000370.3(TTPA):c.204+49C>G	noncoding	Benign
8	63086003	G	A	G63086003A	TTPA	NM_000370.3(TTPA):c.19C>T:p.Gln7Ter	coding	Pathogenic
8	63086009	G	A	G63086009A	TTPA	NM_000370.3(TTPA):c.13C>T:p.Arg5Ter	coding	Pathogenic/Likely_pathogenic
8	63086021	T	A	T63086021A	TTPA	NM_000370.3(TTPA):c.1A>T:p.Met1Leu	coding	Pathogenic/Likely_pathogenic
8	64596809	G	A	G64596809A	CYP7B1	NM_004820.5(CYP7B1):c.1354C>T:p.Arg452Ter	coding	Pathogenic/Likely_pathogenic
8	64597137	G	A	G64597137A	CYP7B1	NM_004820.5(CYP7B1):c.1234-208C>T	noncoding	Benign
8	64604612	G	A	G64604612A	CYP7B1	NM_004820.5(CYP7B1):c.1233+70C>T	noncoding	Benign
8	64604722	G	A	G64604722A	CYP7B1	NM_004820.5(CYP7B1):c.1193C>T:p.Pro398Leu	coding	Pathogenic
8	64604747	C	A	C64604747A	CYP7B1	NM_004820.5(CYP7B1):c.1168G>T:p.Gly390Ter	coding	Pathogenic
8	64604776	G	C	G64604776C	CYP7B1	NM_004820.5(CYP7B1):c.1139C>G:p.Ser380Ter	coding	Pathogenic
8	64604820	A	C	A64604820C	CYP7B1	NM_004820.5(CYP7B1):c.1095T>G:p.Tyr365Ter	coding	Pathogenic
8	64604834	G	A	G64604834A	CYP7B1	NM_004820.5(CYP7B1):c.1081C>T:p.Arg361Ter	coding	Pathogenic
8	64604997	G	A	G64604997A	CYP7B1	NM_004820.5(CYP7B1):c.1058-140C>T	noncoding	Benign
8	64604999	G	A	G64604999A	CYP7B1	NM_004820.5(CYP7B1):c.1058-142C>T	noncoding	Benign
8	64615050	G	A	G64615050A	CYP7B1	NM_004820.5(CYP7B1):c.1033C>T:p.Gln345Ter	coding	Pathogenic
8	64615436	G	A	G64615436A	CYP7B1	NM_004820.5(CYP7B1):c.851-204C>T	noncoding	Benign
8	64615532	A	T	A64615532T	CYP7B1	NM_004820.5(CYP7B1):c.850+159T>A	noncoding	Benign
8	64616282	C	T	C64616282T	CYP7B1	NM_004820.5(CYP7B1):c.260-1G>A	coding	Pathogenic
8	64624492	C	G	C64624492G	CYP7B1	NM_004820.5(CYP7B1):c.170G>C:p.Gly57Ala	coding	Pathogenic
8	64624511	C	G	C64624511G	CYP7B1	NM_004820.5(CYP7B1):c.151G>C:p.Gly51Arg	coding	Pathogenic
8	64798513	G	T	G64798513T	CYP7B1	NM_004820.5(CYP7B1):c.75C>A:p.Ala25=	coding	Benign/Likely_benign
8	64798895	G	C	G64798895C	CYP7B1	NC_000008.10:g.65711452G>C	noncoding	Benign/Likely_benign
8	66905251	C	T	C66905251T	MCMDC2	NM_173518.5(MCMDC2):c.1795C>T:p.Arg599Ter	coding	Pathogenic
8	67064144	C	G	C67064144G	CSPP1	Single_allele	noncoding	Benign
8	67064480	C	T	C67064480T	CSPP1	NM_001382391.1(CSPP1):c.-69C>T	coding	Pathogenic
8	67064519	T	A	T67064519A	CSPP1	NM_001382391.1(CSPP1):c.-30T>A	noncoding	Benign
8	67074655	C	A	C67074655A	CSPP1	NM_001382391.1(CSPP1):c.99+304C>A	noncoding	Benign
8	67076332	C	A	C67076332A	CSPP1	NM_001382391.1(CSPP1):c.100-150C>A	noncoding	Benign
8	67076469	A	G	A67076469G	CSPP1	NM_001382391.1(CSPP1):c.100-13A>G	noncoding	Benign/Likely_benign
8	67095278	T	G	T67095278G	CSPP1	NM_001382391.1(CSPP1):c.484-15T>G	noncoding	Benign/Likely_benign
8	67103026	G	A	G67103026A	CSPP1	NM_001382391.1(CSPP1):c.924-11G>A	noncoding	Benign/Likely_benign
8	67112064	C	T	C67112064T	CSPP1	NM_001382391.1(CSPP1):c.1186C>T:p.Arg396Ter	coding	Pathogenic
8	67113877	C	T	C67113877T	CSPP1	NM_001382391.1(CSPP1):c.1245+15C>T	noncoding	Benign/Likely_benign
8	67116253	A	G	A67116253G	CSPP1	NM_001382391.1(CSPP1):c.1496+131A>G	noncoding	Benign
8	67131950	G	C	G67131950C	CSPP1	NM_001382391.1(CSPP1):c.1698-1G>C	noncoding	Pathogenic
8	67132075	C	T	C67132075T	CSPP1	NM_001382391.1(CSPP1):c.1822C>T:p.Gln608Ter	coding	Pathogenic
8	67132329	C	G	C67132329G	CSPP1	NM_001382391.1(CSPP1):c.1827+249C>G	noncoding	Benign
8	67137284	A	C	A67137284C	CSPP1	NM_001382391.1(CSPP1):c.1828-172A>C	noncoding	Benign
8	67137462	G	T	G67137462T	CSPP1	NM_001382391.1(CSPP1):c.1834G>T:p.Glu612Ter	coding	Pathogenic
8	67153764	G	C	G67153764C	CSPP1	NM_001382391.1(CSPP1):c.2129-260G>C	noncoding	Benign
8	67153928	T	A	T67153928A	CSPP1	NM_001382391.1(CSPP1):c.2129-96T>A	noncoding	Benign
8	67153929	T	A	T67153929A	CSPP1	NM_001382391.1(CSPP1):c.2129-95T>A	noncoding	Benign
8	67154115	C	A	C67154115A	CSPP1	NM_001382391.1(CSPP1):c.2220C>A:p.Tyr740Ter	coding	Pathogenic/Likely_pathogenic
8	67158790	T	A	T67158790A	CSPP1	NM_001382391.1(CSPP1):c.2391+194T>A	noncoding	Benign
8	67159138	G	T	G67159138T	CSPP1	NM_001382391.1(CSPP1):c.2538+1G>T	coding	Pathogenic
8	67159282	A	C	A67159282C	CSPP1	NM_001382391.1(CSPP1):c.2538+145A>C	noncoding	Benign
8	67161799	T	A	T67161799A	CSPP1	NM_001382391.1(CSPP1):c.2539-12T>A	noncoding	Benign/Likely_benign
8	67164684	A	G	A67164684G	CSPP1	NM_001382391.1(CSPP1):c.2828+176A>G	noncoding	Benign
8	67172198	A	G	A67172198G	CSPP1	NM_001382391.1(CSPP1):c.2829-218A>G	noncoding	Benign
8	67175044	A	G	A67175044G	CSPP1	NM_001382391.1(CSPP1):c.2969-252A>G	noncoding	Benign
8	67175307	C	T	C67175307T	CSPP1	NM_001382391.1(CSPP1):c.2980C>T:p.Arg994Ter	coding	Pathogenic
8	67175454	C	T	C67175454T	CSPP1	NM_001382391.1(CSPP1):c.3109+18C>T	noncoding	Benign/Likely_benign
8	67177712	C	T	C67177712T	CSPP1	NM_001382391.1(CSPP1):c.3142C>T:p.Arg1048Ter	coding	Pathogenic
8	67190378	A	G	A67190378G	CSPP1	NM_001382391.1(CSPP1):c.3221-272A>G	noncoding	Benign
8	67190996	C	T	C67190996T	CSPP1	NM_001382391.1(CSPP1):c.3330+237C>T	noncoding	Benign
8	67190997	T	G	T67190997G	CSPP1	NM_001382391.1(CSPP1):c.3330+238T>G	noncoding	Benign
8	67193370	C	T	C67193370T	CSPP1	NM_001382391.1(CSPP1):c.3331-94C>T	noncoding	Benign
8	67195362	G	T	G67195362T	CSPP1	NM_001382391.1(CSPP1):c.3470-20G>T	noncoding	Benign/Likely_benign
8	67200461	G	A	G67200461A	ARFGEF1	NM_006421.5(ARFGEF1):c.5320C>T:p.Arg1774Ter	coding	Pathogenic
8	67218112	G	T	G67218112T	ARFGEF1	NM_006421.5(ARFGEF1):c.4365C>A:p.Cys1455Ter	coding	Pathogenic
8	67226067	G	A	G67226067A	ARFGEF1	NM_006421.5(ARFGEF1):c.4033C>T:p.Arg1345Ter	coding	Pathogenic
8	67227493	G	A	G67227493A	ARFGEF1	NM_006421.5(ARFGEF1):c.3697C>T:p.Gln1233Ter	coding	Pathogenic
8	67227600	T	C	T67227600C	ARFGEF1	NM_006421.5(ARFGEF1):c.3592-2A>G	noncoding	Pathogenic
8	67257734	G	A	G67257734A	ARFGEF1	NM_006421.5(ARFGEF1):c.2524C>T:p.Gln842Ter	coding	Pathogenic
8	67258131	G	A	G67258131A	ARFGEF1	NM_006421.5(ARFGEF1):c.2395C>T:p.Arg799Ter	coding	Pathogenic
8	67258134	C	T	C67258134T	ARFGEF1	NM_006421.5(ARFGEF1):c.2392G>A:p.Asp798Asn	coding	Pathogenic
8	67266187	G	A	G67266187A	ARFGEF1	NM_006421.5(ARFGEF1):c.1942C>T:p.Gln648Ter	coding	Pathogenic
8	67484736	T	C	T67484736C	CPA6	NM_020361.5(CPA6):c.690A>G:p.Leu230=	coding	Benign
8	68060672	C	G	C68060672G	PREX2	NM_024870.4(PREX2):c.1239-7C>G	noncoding	Benign
8	68097033	C	T	C68097033T	PREX2	NM_024870.4(PREX2):c.2385C>T:p.Phe795=	coding	Benign
8	68134174	G	A	G68134174A	PREX2	NM_024870.4(PREX2):c.3882G>A:p.Lys1294=	coding	Benign
8	69586266	G	A	G69586266A	SULF1	NM_001128205.2(SULF1):c.413-91G>A	noncoding	Benign
8	69586673	T	C	T69586673C	SULF1	NM_001128205.2(SULF1):c.564+165T>C	noncoding	Benign
8	69600458	T	G	T69600458G	SULF1	NM_001128205.2(SULF1):c.735-145T>G	noncoding	Benign
8	69600494	A	G	A69600494G	SULF1	NM_001128205.2(SULF1):c.735-109A>G	noncoding	Benign
8	69600589	C	T	C69600589T	SULF1	NM_001128205.2(SULF1):c.735-14C>T	noncoding	Benign
8	69600726	G	A	G69600726A	SULF1	NM_001128205.2(SULF1):c.858G>A:p.Leu286=	coding	Benign
8	69601620	A	G	A69601620G	SULF1	NM_001128205.2(SULF1):c.886-34A>G	noncoding	Benign
8	69601881	A	G	A69601881G	SULF1	NM_001128205.2(SULF1):c.1061+52A>G	noncoding	Benign
8	69604705	G	T	G69604705T	SULF1	NM_001128205.2(SULF1):c.1248-98G>T	noncoding	Benign
8	69604734	G	A	G69604734A	SULF1	NM_001128205.2(SULF1):c.1248-69G>A	noncoding	Benign
8	69627273	G	T	G69627273T	SULF1	NM_001128205.2(SULF1):c.1914G>T:p.Ala638=	coding	Benign
8	69627676	G	A	G69627676A	SULF1	NM_001128205.2(SULF1):c.1948-96G>A	noncoding	Benign
8	69627981	C	T	C69627981T	SULF1	NM_001128205.2(SULF1):c.2042+115C>T	noncoding	Benign
8	69628447	G	C	G69628447C	SULF1	NM_001128205.2(SULF1):c.2108+211G>C	noncoding	Benign
8	69638754	C	T	C69638754T	SULF1	NM_001128205.2(SULF1):c.2447C>T:p.Thr816Met	coding	Benign
8	69638876	A	G	A69638876G	SULF1	NM_001128205.2(SULF1):c.2551+18A>G	noncoding	Benign
8	69640852	T	C	T69640852C	SULF1	NM_001128205.2(SULF1):c.2585+11T>C	noncoding	Benign
8	69640857	T	A	T69640857A	SULF1	NM_001128205.2(SULF1):c.2585+16T>A	noncoding	Benign
8	69672944	G	A	G69672944A	SLCO5A1	NM_030958.3(SLCO5A1):c.2472C>T:p.Pro824=	coding	Benign
8	69673064	C	T	C69673064T	SLCO5A1	NM_030958.3(SLCO5A1):c.2352G>A:p.Val784=	coding	Benign
8	69673090	G	A	G69673090A	SLCO5A1	NM_030958.3(SLCO5A1):c.2326C>T:p.Pro776Ser	coding	Benign
8	69673106	C	T	C69673106T	SLCO5A1	NM_030958.3(SLCO5A1):c.2310G>A:p.Arg770=	coding	Benign
8	69676643	T	C	T69676643C	SLCO5A1	NM_030958.3(SLCO5A1):c.2055A>G:p.Ala685=	coding	Benign
8	69676693	G	A	G69676693A	SLCO5A1	NM_030958.3(SLCO5A1):c.2025-20C>T	noncoding	Benign
8	69679077	T	G	T69679077G	SLCO5A1	NM_030958.3(SLCO5A1):c.2024+301A>C	noncoding	Benign
8	69679361	T	C	T69679361C	SLCO5A1	NM_030958.3(SLCO5A1):c.2024+17A>G	noncoding	Benign
8	69682185	C	A	C69682185A	SLCO5A1	NM_030958.3(SLCO5A1):c.1781G>T:p.Gly594Val	coding	Benign
8	69705189	G	A	G69705189A	SLCO5A1	NM_030958.3(SLCO5A1):c.1464C>T:p.Leu488=	coding	Benign
8	69705333	G	A	G69705333A	SLCO5A1	NM_030958.3(SLCO5A1):c.1424-104C>T	noncoding	Benign
8	69755558	C	T	C69755558T	SLCO5A1	NM_030958.3(SLCO5A1):c.1124G>A:p.Arg375Gln	coding	Benign
8	69831757	A	C	A69831757C	SLCO5A1	NM_030958.3(SLCO5A1):c.907+10T>G	noncoding	Benign
8	69831932	G	A	G69831932A	SLCO5A1	NM_030958.3(SLCO5A1):c.742C>T:p.Pro248Ser	coding	Benign
8	69832347	G	A	G69832347A	SLCO5A1	NM_030958.3(SLCO5A1):c.327C>T:p.Ser109=	coding	Benign
8	69832398	G	A	G69832398A	SLCO5A1	NM_030958.3(SLCO5A1):c.276C>T:p.Leu92=	coding	Benign
8	69832419	G	A	G69832419A	SLCO5A1	NM_030958.3(SLCO5A1):c.255C>T:p.Ala85=	coding	Benign
8	69832577	G	A	G69832577A	SLCO5A1	NM_030958.3(SLCO5A1):c.97C>T:p.Leu33Phe	coding	Benign
8	69832621	G	A	G69832621A	SLCO5A1	NM_030958.3(SLCO5A1):c.53C>T:p.Pro18Leu	coding	Benign
8	69832936	C	A	C69832936A	SLCO5A1	NM_030958.3(SLCO5A1):c.-263G>T	noncoding	Benign
8	71199443	T	C	T71199443C	EYA1	NM_000503.6(EYA1):c.1699-23A>G	noncoding	Benign
8	71199475	C	T	C71199475T	EYA1	NM_000503.6(EYA1):c.1699-55G>A	noncoding	Benign
8	71199504	G	C	G71199504C	EYA1	NM_000503.6(EYA1):c.1699-84C>G	noncoding	Benign
8	71210812	G	A	G71210812A	EYA1	NM_000503.6(EYA1):c.1698+344C>T	noncoding	Benign
8	71211023	T	C	T71211023C	EYA1	NM_000503.6(EYA1):c.1698+133A>G	noncoding	Benign
8	71211155	C	A	C71211155A	EYA1	NM_000503.6(EYA1):c.1698+1G>T	noncoding	Pathogenic
8	71211582	G	C	G71211582C	EYA1	NM_000503.6(EYA1):c.1598-326C>G	noncoding	Benign
8	71215327	C	T	C71215327T	EYA1	NM_000503.6(EYA1):c.1597+60G>A	noncoding	Benign
8	71215328	G	A	G71215328A	EYA1	NM_000503.6(EYA1):c.1597+59C>T	noncoding	Benign
8	71215369	A	G	A71215369G	EYA1	NM_000503.6(EYA1):c.1597+18T>C	noncoding	Benign
8	71215510	T	A	T71215510A	EYA1	NM_000503.6(EYA1):c.1476-2A>T	noncoding	Pathogenic
8	71215529	C	A	C71215529A	EYA1	NM_000503.6(EYA1):c.1476-21G>T	noncoding	Benign
8	71216639	G	A	G71216639A	EYA1	NM_000503.6(EYA1):c.1360+53C>T	noncoding	Benign
8	71244694	T	C	T71244694C	EYA1	NM_000503.6(EYA1):c.1051-2A>G	noncoding	Pathogenic
8	71245015	G	C	G71245015C	EYA1	NM_000503.6(EYA1):c.1051-323C>G	noncoding	Benign
8	71269627	C	T	C71269627T	EYA1	NM_000503.6(EYA1):c.1050+113G>A	noncoding	Benign
8	71269633	T	C	T71269633C	EYA1	NM_000503.6(EYA1):c.1050+107A>G	noncoding	Benign
8	71269674	A	C	A71269674C	EYA1	NM_000503.6(EYA1):c.1050+66T>G	noncoding	Benign
8	71269712	T	G	T71269712G	EYA1	NM_000503.6(EYA1):c.1050+28A>C	noncoding	Benign
8	71272001	T	C	T71272001C	EYA1	NM_000503.6(EYA1):c.827-104A>G	noncoding	Benign
8	71298803	G	C	G71298803C	EYA1	NM_000503.6(EYA1):c.826+244C>G	noncoding	Benign
8	71298943	G	A	G71298943A	EYA1	NM_000503.6(EYA1):c.826+104C>T	noncoding	Benign
8	71299098	G	A	G71299098A	EYA1	NM_000503.6(EYA1):c.775C>T:p.Gln259Ter	coding	Pathogenic
8	71299219	A	C	A71299219C	EYA1	NM_000503.6(EYA1):c.654T>G:p.Tyr218Ter	coding	Pathogenic
8	71299599	A	C	A71299599C	EYA1	NM_000503.6(EYA1):c.639+39T>G	noncoding	Benign
8	71299621	C	G	C71299621G	EYA1	NM_000503.6(EYA1):c.639+17G>C	noncoding	Benign
8	71299636	A	C	A71299636C	EYA1	NM_000503.6(EYA1):c.639+2T>G	noncoding	Pathogenic
8	71299640	G	A	G71299640A	EYA1	NM_000503.6(EYA1):c.637C>T:p.Gln213Ter	coding	Pathogenic/Likely_pathogenic
8	71299731	A	T	A71299731T	EYA1	NM_000503.6(EYA1):c.557-11T>A	noncoding	Benign/Likely_benign
8	71299946	A	G	A71299946G	EYA1	NM_000503.6(EYA1):c.557-226T>C	noncoding	Benign
8	71317962	T	C	T71317962C	EYA1	NM_000503.6(EYA1):c.419-273A>G	noncoding	Benign
8	71321509	A	G	A71321509G	EYA1	NM_000503.6(EYA1):c.418+225T>C	noncoding	Benign
8	71321632	G	A	G71321632A	EYA1	NM_000503.6(EYA1):c.418+102C>T	noncoding	Benign
8	71321797	G	A	G71321797A	EYA1	NM_000503.6(EYA1):c.355C>T:p.Gln119Ter	coding	Pathogenic
8	71322100	T	A	T71322100A	EYA1	NM_000503.6(EYA1):c.272+99A>T	noncoding	Benign
8	71334343	A	G	A71334343G	EYA1	NM_000503.6(EYA1):c.125-169T>C	noncoding	Benign
8	71334432	T	C	T71334432C	EYA1	NM_000503.6(EYA1):c.125-258A>G	noncoding	Benign
8	71355206	A	G	A71355206G	EYA1	NM_000503.6(EYA1):c.-4-297T>C	noncoding	Benign
8	72023910	T	C	T72023910C	TRPA1	NM_007332.3(TRPA1):c.3053A>G:p.His1018Arg	coding	Benign
8	72026025	G	A	G72026025A	MSC-AS1;TRPA1	NM_007332.3(TRPA1):c.2986C>T:p.Arg996Cys	coding	Benign
8	72026097	G	C	G72026097C	TRPA1	NM_007332.3(TRPA1):c.2938-24C>G	noncoding	Benign
8	72026122	A	C	A72026122C	TRPA1	NM_007332.3(TRPA1):c.2938-49T>G	noncoding	Benign
8	72029952	G	A	G72029952A	MSC-AS1;TRPA1	NM_007332.3(TRPA1):c.2886C>T:p.Gly962_Asp963=	coding	Benign
8	72029975	G	T	G72029975T	TRPA1	NM_007332.3(TRPA1):c.2869-6C>A	noncoding	Benign
8	72047148	A	G	A72047148G	TRPA1	NM_007332.3(TRPA1):c.1965T>C:p.Tyr655=	coding	Benign/Likely_benign
8	72050750	G	A	G72050750A	TRPA1	NM_007332.3(TRPA1):c.1905+28C>T	noncoding	Benign
8	72050805	C	T	C72050805T	TRPA1	NM_007332.3(TRPA1):c.1878G>A:p.Met626Ile	coding	Benign/Likely_benign
8	72053738	G	A	G72053738A	TRPA1	NM_007332.3(TRPA1):c.1644+15C>T	coding	Benign
8	72053767	G	A	G72053767A	TRPA1	NM_007332.3(TRPA1):c.1630C>T:p.Leu544=	coding	Benign
8	72053889	A	G	A72053889G	TRPA1	NM_007332.3(TRPA1):c.1530-22T>C	coding	Benign
8	72063566	T	G	T72063566G	TRPA1	NM_007332.3(TRPA1):c.558A>C:p.Lys186Asn	coding	Benign
8	72069092	A	G	A72069092G	TRPA1	NM_007332.3(TRPA1):c.375T>C:p.Asn125=	coding	Benign
8	72567488	A	G	A72567488G	KCNB2	NM_004770.3(KCNB2):c.-93-154A>G	noncoding	Benign
8	72567905	C	G	C72567905G	KCNB2	NM_004770.3(KCNB2):c.171C>G:p.Pro57=	coding	Benign
8	72935904	A	T	A72935904T	KCNB2	NM_004770.3(KCNB2):c.580-31A>T	noncoding	Benign
8	72937968	G	A	G72937968A	KCNB2	NM_004770.3(KCNB2):c.2613G>A:p.Val871=	coding	Benign
8	73009171	C	T	C73009171T	TERF1	NM_017489.3(TERF1):c.285C>T:p.Ser95=	coding	Benign
8	73014001	T	G	T73014001G	TERF1	NM_017489.3(TERF1):c.415+11T>G	noncoding	Benign
8	73014208	C	T	C73014208T	TERF1	NM_017489.3(TERF1):c.415+218C>T	noncoding	Benign
8	73021004	T	C	T73021004C	TERF1	NM_017489.3(TERF1):c.537+199T>C	noncoding	Benign
8	73026642	T	A	T73026642A	TERF1	NM_017489.3(TERF1):c.775-298T>A	noncoding	Benign
8	73026726	T	G	T73026726G	TERF1	NM_017489.3(TERF1):c.775-214T>G	noncoding	Benign
8	73026900	A	G	A73026900G	TERF1	NM_017489.3(TERF1):c.775-40A>G	noncoding	Benign
8	73027121	G	A	G73027121A	TERF1	NM_017489.3(TERF1):c.887+69G>A	noncoding	Benign
8	73027123	C	T	C73027123T	TERF1	NM_017489.3(TERF1):c.887+71C>T	noncoding	Benign
8	73030122	A	C	A73030122C	TERF1	NM_017489.3(TERF1):c.888-214A>C	noncoding	Benign
8	73030477	C	T	C73030477T	TERF1	NM_017489.3(TERF1):c.947+82C>T	noncoding	Benign
8	73030587	G	C	G73030587C	TERF1	NM_017489.3(TERF1):c.947+192G>C	noncoding	Benign
8	73038992	G	A	G73038992A	TERF1	NM_017489.3(TERF1):c.1040-124G>A	noncoding	Benign
8	73039039	T	G	T73039039G	TERF1	NM_017489.3(TERF1):c.1040-77T>G	noncoding	Benign
8	73045798	C	T	C73045798T	TERF1	NM_017489.3(TERF1):c.1144-163C>T	noncoding	Benign
8	73045915	T	C	T73045915C	TERF1	NM_017489.3(TERF1):c.1144-46T>C	noncoding	Benign
8	73046228	T	C	T73046228C	TERF1	NM_017489.3(TERF1):c.*91T>C	noncoding	Benign
8	73975814	T	C	T73975814C	TMEM70	NM_017866.5(TMEM70):c.-468T>C	noncoding	Benign
8	73976622	C	G	C73976622G	TMEM70	NM_017866.6(TMEM70):c.210+131C>G	noncoding	Benign
8	73978726	A	G	A73978726G	TMEM70	NM_017866.6(TMEM70):c.211-30A>G	noncoding	Benign
8	73978750	C	T	C73978750T	TMEM70	NM_017866.6(TMEM70):c.211-6C>T	noncoding	Benign/Likely_benign
8	73978929	A	G	A73978929G	TMEM70	NM_017866.6(TMEM70):c.316+68A>G	noncoding	Benign
8	73978965	A	G	A73978965G	TMEM70	NM_017866.6(TMEM70):c.316+104A>G	noncoding	Benign
8	74350331	A	T	A74350331T	GDAP1	Single_allele	noncoding	Benign
8	74350474	C	T	C74350474T	GDAP1	NM_018972.4(GDAP1):c.13C>T:p.Gln5Ter	coding	Pathogenic
8	74350483	C	T	C74350483T	GDAP1	NM_018972.4(GDAP1):c.22C>T:p.Gln8Ter	coding	Pathogenic
8	74350590	C	G	C74350590G	GDAP1	NM_018972.4(GDAP1):c.117+12C>G	noncoding	Benign/Likely_benign
8	74350822	C	T	C74350822T	GDAP1	NM_018972.4(GDAP1):c.117+244C>T	noncoding	Benign
8	74350917	C	A	C74350917A	GDAP1	NM_018972.4(GDAP1):c.117+339C>A	noncoding	Benign
8	74351041	A	T	A74351041T	GDAP1	NM_018972.4(GDAP1):c.118-233A>T	noncoding	Benign
8	74359952	A	G	A74359952G	GDAP1	NM_018972.4(GDAP1):c.311-185A>G	noncoding	Benign
8	74360011	A	G	A74360011G	GDAP1	NM_018972.4(GDAP1):c.311-126A>G	noncoding	Benign
8	74360136	G	A	G74360136A	GDAP1	NM_018972.4(GDAP1):c.311-1G>A	noncoding	Pathogenic
8	74360152	T	A	T74360152A	GDAP1	NM_018972.4(GDAP1):c.326T>A:p.Leu109Ter	coding	Pathogenic
8	74361943	C	T	C74361943T	GDAP1	NM_018972.4(GDAP1):c.544C>T:p.Gln182Ter	coding	Pathogenic
8	74361976	A	T	A74361976T	GDAP1	NM_018972.4(GDAP1):c.577A>T:p.Lys193Ter	coding	Pathogenic
8	74363054	G	A	G74363054A	GDAP1	NM_018972.4(GDAP1):c.694+1G>A	coding	Pathogenic
8	74363128	A	G	A74363128G	GDAP1	NM_018972.4(GDAP1):c.694+75A>G	noncoding	Benign
8	74364135	G	A	G74364135A	GDAP1	NM_018972.4(GDAP1):c.845G>A:p.Arg282His	coding	Pathogenic
8	74364218	C	T	C74364218T	GDAP1	NM_018972.4(GDAP1):c.928C>T:p.Arg310Trp	coding	Pathogenic
8	74364270	G	A	G74364270A	GDAP1	NM_018972.4(GDAP1):c.980G>A:p.Gly327Asp	coding	Pathogenic
8	76778327	T	C	T76778327C	ZFHX4	NM_024721.5(ZFHX4):c.3213T>C:p.His1071=	coding	Benign
8	76833399	G	A	G76833399A	ZFHX4	NM_024721.5(ZFHX4):c.3387G>A:p.Ser1129=	coding	Benign
8	76852616	C	T	C76852616T	ZFHX4	NM_024721.5(ZFHX4):c.5695C>T:p.Arg1899Ter	coding	Pathogenic
8	76982221	G	C	G76982221C	PEX2	NM_000318.3(PEX2):c.*1040C>G	noncoding	Benign/Likely_benign
8	76983511	C	T	C76983511T	PEX2	NM_000318.3(PEX2):c.668G>A:p.Trp223Ter	coding	Pathogenic
8	76983793	A	T	A76983793T	PEX2	NM_000318.3(PEX2):c.386T>A:p.Leu129Ter	coding	Pathogenic
8	76983893	G	A	G76983893A	PEX2	NM_000318.3(PEX2):c.286C>T:p.Gln96Ter	coding	Pathogenic/Likely_pathogenic
8	76984022	C	A	C76984022A	PEX2	NM_000318.3(PEX2):c.157G>T:p.Glu53Ter	coding	Pathogenic
8	76984064	G	A	G76984064A	PEX2	NM_000318.3(PEX2):c.115C>T:p.Gln39Ter	coding	Pathogenic
8	76984088	G	A	G76984088A	PEX2	NM_000318.3(PEX2):c.91C>T:p.Gln31Ter	coding	Pathogenic
8	76984169	T	A	T76984169A	PEX2	NM_000318.3(PEX2):c.10A>T:p.Arg4Ter	coding	Pathogenic
8	76984236	C	A	C76984236A	PEX2	NM_000318.3(PEX2):c.-17-41G>T	noncoding	Benign/Likely_benign
8	79765029	T	A	T79765029A	HEY1	NM_012258.4(HEY1):c.*159A>T	noncoding	Benign
8	79765887	G	A	G79765887A	HEY1	NM_012258.4(HEY1):c.332-116C>T	noncoding	Benign
8	79766192	T	C	T79766192C	HEY1	NM_012258.4(HEY1):c.332-421A>G	noncoding	Benign
8	79766630	C	A	C79766630A	HEY1	NM_012258.4(HEY1):c.331+21G>T	noncoding	Benign
8	81443283	A	G	A81443283G	PMP2	NM_002677.5(PMP2):c.*115T>C	noncoding	Benign
8	81443386	A	G	A81443386G	PMP2	NM_002677.5(PMP2):c.*12T>C	noncoding	Benign
8	81443478	C	G	C81443478G	PMP2	NM_002677.5(PMP2):c.349-30G>C	noncoding	Benign
8	81444877	T	C	T81444877C	PMP2	NM_002677.5(PMP2):c.186A>G:p.Glu62=	coding	Benign
8	81444908	A	G	A81444908G	PMP2	NM_002677.5(PMP2):c.155T>C:p.Ile52Thr	coding	Pathogenic/Likely_pathogenic
8	81447294	C	G	C81447294G	PMP2	NM_002677.5(PMP2):c.73+20G>C	noncoding	Benign
8	81758536	G	A	G81758536A	CHMP4C	NM_152284.4(CHMP4C):c.694G>A:p.Ala232Thr	coding	Benign
8	85107309	C	A	C85107309A	LRRCC1	NM_033402.5(LRRCC1):c.14C>A:p.Ala5Glu	coding	Benign
8	85109697	T	A	T85109697A	LRRCC1	NM_033402.5(LRRCC1):c.207T>A:p.His69Gln	coding	Benign
8	85109759	G	A	G85109759A	LRRCC1	NM_033402.5(LRRCC1):c.269G>A:p.Cys90Tyr	coding	Benign
8	85115183	A	G	A85115183G	LRRCC1	NM_033402.5(LRRCC1):c.628A>G:p.Thr210Ala	coding	Benign
8	85124957	A	G	A85124957G	LRRCC1	NM_033402.5(LRRCC1):c.1272+18A>G	noncoding	Benign
8	85131832	A	C	A85131832C	LRRCC1	NM_033402.5(LRRCC1):c.1839A>C:p.Lys613Asn	coding	Benign
8	85135776	T	G	T85135776G	LRRCC1	NM_033402.5(LRRCC1):c.2155-13T>G	noncoding	Benign
8	85137473	T	C	T85137473C	LRRCC1	NM_033402.5(LRRCC1):c.2339T>C:p.Leu780Pro	coding	Benign
8	85145472	A	G	A85145472G	LRRCC1	NM_033402.5(LRRCC1):c.3060A>G:p.Gln1020=	coding	Benign
8	85474468	C	T	C85474468T	CA2	NM_000067.3(CA2):c.444+52C>T	noncoding	Benign
8	85475999	A	C	A85475999C	CA2	NM_000067.3(CA2):c.507+139A>C	noncoding	Benign
8	85476842	G	A	G85476842A	CA2	NM_000067.3(CA2):c.508-278G>A	noncoding	Benign
8	85476966	C	T	C85476966T	CA2	NM_000067.3(CA2):c.508-154C>T	noncoding	Benign
8	85477119	G	C	G85477119C	CA2	NM_000067.3(CA2):c.508-1G>C	noncoding	Pathogenic
8	85477357	A	C	A85477357C	CA2	NM_000067.3(CA2):c.663+82A>C	noncoding	Benign
8	85477388	T	C	T85477388C	CA2	NM_000067.3(CA2):c.663+113T>C	noncoding	Benign
8	85480627	C	T	C85480627T	CA2	NM_000067.3(CA2):c.664-43C>T	noncoding	Benign
8	86099139	G	A	G86099139A	ATP6V0D2	NM_152565.1(ATP6V0D2):c.130+31G>A	noncoding	Benign
8	86099286	A	C	A86099286C	ATP6V0D2	NM_152565.1(ATP6V0D2):c.130+178A>C	noncoding	Benign
8	86113922	G	A	G86113922A	ATP6V0D2	NM_152565.1(ATP6V0D2):c.302+42G>A	noncoding	Benign
8	86113949	G	C	G86113949C	ATP6V0D2	NM_152565.1(ATP6V0D2):c.302+69G>C	noncoding	Benign
8	86139377	G	C	G86139377C	ATP6V0D2	NM_152565.1(ATP6V0D2):c.303-80G>C	noncoding	Benign
8	86141675	C	T	C86141675T	ATP6V0D2	NM_152565.1(ATP6V0D2):c.561+146C>T	noncoding	Benign
8	86142808	G	A	G86142808A	ATP6V0D2	NM_152565.1(ATP6V0D2):c.562-69G>A	noncoding	Benign
8	86142865	T	C	T86142865C	ATP6V0D2	NM_152565.1(ATP6V0D2):c.562-12T>C	noncoding	Benign
8	86142996	C	T	C86142996T	ATP6V0D2	NM_152565.1(ATP6V0D2):c.639+42C>T	noncoding	Benign
8	86149869	T	A	T86149869A	ATP6V0D2	NM_152565.1(ATP6V0D2):c.640-243T>A	noncoding	Benign
8	86150286	G	A	G86150286A	ATP6V0D2	NM_152565.1(ATP6V0D2):c.814G>A:p.Gly272Arg	coding	Benign
8	86150561	G	A	G86150561A	ATP6V0D2	NM_152565.1(ATP6V0D2):c.816+273G>A	noncoding	Benign
8	86150565	G	T	G86150565T	ATP6V0D2	NM_152565.1(ATP6V0D2):c.816+277G>T	noncoding	Benign
8	86151226	T	C	T86151226C	ATP6V0D2	NM_152565.1(ATP6V0D2):c.817-240T>C	noncoding	Benign
8	86151267	C	A	C86151267A	ATP6V0D2	NM_152565.1(ATP6V0D2):c.817-199C>A	noncoding	Benign
8	86152657	T	C	T86152657C	ATP6V0D2	NM_152565.1(ATP6V0D2):c.892-159T>C	noncoding	Benign
8	86152782	T	C	T86152782C	ATP6V0D2	NM_152565.1(ATP6V0D2):c.892-34T>C	noncoding	Benign
8	86214418	C	T	C86214418T	SLC7A13	NM_138817.3(SLC7A13):c.1408G>A:p.Glu470Lys	coding	Benign
8	86214471	A	G	A86214471G	SLC7A13	NM_138817.3(SLC7A13):c.1355T>C:p.Met452Thr	coding	Benign
8	86217473	A	G	A86217473G	SLC7A13	NM_138817.3(SLC7A13):c.1176T>C:p.Tyr392=	coding	Benign
8	86217477	G	T	G86217477T	SLC7A13	NM_138817.3(SLC7A13):c.1172C>A:p.Pro391His	coding	Benign
8	86217510	C	T	C86217510T	SLC7A13	NM_138817.3(SLC7A13):c.1139G>A:p.Arg380Lys	coding	Benign
8	86217551	C	T	C86217551T	SLC7A13	NM_138817.3(SLC7A13):c.1098G>A:p.Thr366=	coding	Benign
8	86217661	G	A	G86217661A	SLC7A13	NM_138817.3(SLC7A13):c.988C>T:p.Leu330Phe	coding	Benign
8	86217719	T	A	T86217719A	SLC7A13	NM_138817.3(SLC7A13):c.930A>T:p.Ser310=	coding	Benign
8	86217719	T	G	T86217719G	SLC7A13	NM_138817.3(SLC7A13):c.930A>C:p.Ser310=	coding	Benign
8	86223044	C	T	C86223044T	SLC7A13	NM_138817.3(SLC7A13):c.745G>A:p.Val249Met	coding	Benign
8	86223054	C	T	C86223054T	SLC7A13	NM_138817.3(SLC7A13):c.735G>A:p.Ala245=	coding	Benign
8	86229618	G	A	G86229618A	SLC7A13	NM_138817.3(SLC7A13):c.660C>T:p.Gly220=	coding	Benign
8	86230029	A	G	A86230029G	SLC7A13	NM_138817.3(SLC7A13):c.249T>C:p.Phe83=	coding	Benign
8	86230062	T	C	T86230062C	SLC7A13	NM_138817.3(SLC7A13):c.216A>G:p.Ile72Met	coding	Benign
8	86230143	G	C	G86230143C	SLC7A13	NM_138817.3(SLC7A13):c.135C>G:p.Asn45Lys	coding	Benign
8	86578622	G	A	G86578622A	CNGB3	NM_019098.5(CNGB3):c.2103+67C>T	noncoding	Benign
8	86579088	G	A	G86579088A	CNGB3	NM_019098.5(CNGB3):c.1928+18C>T	noncoding	Benign
8	86604208	C	A	C86604208A	CNGB3	NM_019098.5(CNGB3):c.1666G>T:p.Glu556Ter	coding	Pathogenic
8	86611521	T	C	T86611521C	CNGB3	NM_019098.5(CNGB3):c.1662+67A>G	noncoding	Benign
8	86611613	A	T	A86611613T	CNGB3	NM_019098.5(CNGB3):c.1637T>A:p.Leu546Ter	coding	Pathogenic
8	86625985	T	A	T86625985A	CNGB3	NM_019098.5(CNGB3):c.1576A>T:p.Lys526Ter	coding	Pathogenic
8	86626225	T	G	T86626225G	CNGB3	NM_019098.5(CNGB3):c.1481-145A>C	noncoding	Benign
8	86628899	C	T	C86628899T	CNGB3	NM_019098.5(CNGB3):c.1480+20G>A	noncoding	Benign
8	86628938	C	T	C86628938T	CNGB3	NM_019098.5(CNGB3):c.1461G>A:p.Trp487Ter	coding	Pathogenic
8	86629175	G	T	G86629175T	CNGB3	NM_019098.5(CNGB3):c.1321-97C>A	noncoding	Benign
8	86632696	C	T	C86632696T	CNGB3	NM_019098.5(CNGB3):c.1320+56G>A	noncoding	Benign
8	86632748	T	C	T86632748C	CNGB3	NM_019098.5(CNGB3):c.1320+4A>G	noncoding	Pathogenic
8	86632762	A	C	A86632762C	CNGB3	NM_019098.5(CNGB3):c.1310T>G:p.Leu437Ter	coding	Pathogenic
8	86632971	T	A	T86632971A	CNGB3	NM_019098.5(CNGB3):c.1179-78A>T	noncoding	Benign
8	86643746	C	A	C86643746A	CNGB3	NM_019098.5(CNGB3):c.1178+5G>T	noncoding	Pathogenic
8	86643761	C	A	C86643761A	CNGB3	NM_019098.5(CNGB3):c.1168G>T:p.Glu390Ter	coding	Pathogenic
8	86647874	G	T	G86647874T	CNGB3	NM_019098.5(CNGB3):c.917C>A:p.Ser306Ter	coding	Pathogenic
8	86666870	G	A	G86666870A	CNGB3	NM_019098.5(CNGB3):c.852+55C>T	noncoding	Benign
8	86666951	G	A	G86666951A	CNGB3	NM_019098.5(CNGB3):c.826C>T:p.Gln276Ter	coding	Pathogenic
8	86667109	A	T	A86667109T	CNGB3	NM_019098.5(CNGB3):c.668T>A:p.Leu223Ter	coding	Pathogenic
8	86667131	G	A	G86667131A	CNGB3	NM_019098.5(CNGB3):c.646C>T:p.Arg216Ter	coding	Pathogenic/Likely_pathogenic
8	86667884	T	A	T86667884A	CNGB3	NM_019098.5(CNGB3):c.643+135A>T	noncoding	Benign
8	86668072	A	C	A86668072C	CNGB3	NM_019098.5(CNGB3):c.590T>G:p.Leu197Ter	coding	Pathogenic
8	86668096	C	T	C86668096T	CNGB3	NM_019098.5(CNGB3):c.566G>A:p.Trp189Ter	coding	Pathogenic
8	86670848	G	A	G86670848A	CNGB3	NM_019098.5(CNGB3):c.493+96C>T	noncoding	Benign
8	86670967	G	T	G86670967T	CNGB3	NM_019098.5(CNGB3):c.470C>A:p.Ser157Ter	coding	Pathogenic
8	86671056	A	C	A86671056C	CNGB3	NM_019098.5(CNGB3):c.381T>G:p.Tyr127Ter	coding	Pathogenic
8	86726646	T	A	T86726646A	CNGB3	NM_019098.5(CNGB3):c.223A>T:p.Lys75Ter	coding	Pathogenic
8	86739555	A	C	A86739555C	CNGB3	NM_019098.5(CNGB3):c.211+100T>G	noncoding	Benign
8	86739808	C	A	C86739808A	CNGB3	NM_019098.5(CNGB3):c.130-72G>T	noncoding	Benign
8	86743617	G	T	G86743617T	CNGB3	NM_019098.5(CNGB3):c.11C>A:p.Ser4Ter	coding	Pathogenic/Likely_pathogenic
8	86743727	A	T	A86743727T	CNGB3	Single_allele	noncoding	Benign
8	88039069	C	T	C88039069T	MMP16	NM_005941.5(MMP16):c.*2392G>A	noncoding	Benign
8	89935600	A	G	A89935600G	NBN	NM_002485.5(NBN):c.2247T>C:p.Tyr749=	coding	Benign/Likely_benign
8	89936938	G	C	G89936938C	NBN	NM_002485.5(NBN):c.2234+88C>G	noncoding	Benign
8	89937058	T	C	T89937058C	NBN	NM_002485.5(NBN):c.2202A>G:p.Ala734=	coding	Benign/Likely_benign
8	89942942	G	C	G89942942C	NBN	NM_002485.5(NBN):c.2184+311C>G	noncoding	Benign
8	89943025	T	G	T89943025G	NBN	NM_002485.5(NBN):c.2184+228A>C	noncoding	Benign
8	89943130	C	T	C89943130T	NBN	NM_002485.5(NBN):c.2184+123G>A	noncoding	Benign
8	89943348	C	A	C89943348A	NBN	NM_002485.5(NBN):c.2089G>T:p.Gly697Ter	coding	Pathogenic
8	89943427	T	A	T89943427A	NBN	NM_002485.5(NBN):c.2071-61A>T	noncoding	Benign
8	89946107	A	G	A89946107G	NBN	NM_002485.5(NBN):c.2070+33T>C	noncoding	Benign
8	89946127	T	C	T89946127C	NBN	NM_002485.5(NBN):c.2070+13A>G	noncoding	Benign/Likely_benign
8	89946133	T	C	T89946133C	NBN	NM_002485.5(NBN):c.2070+7A>G	noncoding	Benign/Likely_benign
8	89946151	T	A	T89946151A	NBN	NM_002485.5(NBN):c.2059A>T:p.Lys687Ter	coding	Pathogenic
8	89946217	T	A	T89946217A	NBN	NM_002485.5(NBN):c.1993A>T:p.Lys665Ter	coding	Pathogenic
8	89946224	C	T	C89946224T	NBN	NM_002485.5(NBN):c.1986G>A:p.Leu662=	coding	Benign/Likely_benign
8	89946228	G	C	G89946228C	NBN	NM_002485.5(NBN):c.1982C>G:p.Ser661Ter	coding	Pathogenic
8	89947843	C	T	C89947843T	NBN	NM_002485.5(NBN):c.1895G>A:p.Trp632Ter	coding	Pathogenic
8	89947848	T	G	T89947848G	NBN	NM_002485.5(NBN):c.1890A>C:p.Ser630=	coding	Benign/Likely_benign
8	89947849	G	T	G89947849T	NBN	NM_002485.5(NBN):c.1889C>A:p.Ser630Ter	coding	Pathogenic
8	89948143	T	G	T89948143G	NBN	NM_002485.5(NBN):c.1846-251A>C	noncoding	Benign
8	89953252	T	A	T89953252A	NBN	NM_002485.5(NBN):c.1837A>T:p.Lys613Ter	coding	Pathogenic
8	89953449	G	C	G89953449C	NBN	NM_002485.5(NBN):c.1640C>G:p.Ser547Ter	coding	Pathogenic
8	89953506	A	C	A89953506C	NBN	NM_002485.5(NBN):c.1583T>G:p.Leu528Ter	coding	Pathogenic
8	89953672	G	A	G89953672A	NBN	NM_002485.5(NBN):c.1417C>T:p.Gln473Ter	coding	Pathogenic
8	89954979	G	A	G89954979A	NBN	NM_002485.5(NBN):c.1397+304C>T	noncoding	Benign
8	89955126	G	C	G89955126C	NBN	NM_002485.5(NBN):c.1397+157C>G	noncoding	Benign
8	89955287	T	A	T89955287A	NBN	NM_002485.5(NBN):c.1393A>T:p.Lys465Ter	coding	Pathogenic
8	89955335	G	A	G89955335A	NBN	NM_002485.5(NBN):c.1345C>T:p.Gln449Ter	coding	Pathogenic
8	89955338	G	A	G89955338A	NBN	NM_002485.5(NBN):c.1342C>T:p.Gln448Ter	coding	Pathogenic
8	89955392	G	A	G89955392A	NBN	NM_002485.5(NBN):c.1288C>T:p.Gln430Ter	coding	Pathogenic
8	89955393	A	T	A89955393T	NBN	NM_002485.5(NBN):c.1287T>A:p.Tyr429Ter	coding	Pathogenic
8	89955407	T	A	T89955407A	NBN	NM_002485.5(NBN):c.1273A>T:p.Arg425Ter	coding	Pathogenic
8	89955488	G	A	G89955488A	NBN	NM_002485.5(NBN):c.1192C>T:p.Gln398Ter	coding	Pathogenic
8	89955490	G	C	G89955490C	NBN	NM_002485.5(NBN):c.1190C>G:p.Ser397Ter	coding	Pathogenic
8	89955490	G	T	G89955490T	NBN	NM_002485.5(NBN):c.1190C>A:p.Ser397Ter	coding	Pathogenic/Likely_pathogenic
8	89955512	C	A	C89955512A	NBN	NM_002485.5(NBN):c.1168G>T:p.Glu390Ter	coding	Pathogenic
8	89955518	T	A	T89955518A	NBN	NM_002485.5(NBN):c.1162A>T:p.Lys388Ter	coding	Pathogenic
8	89955533	C	A	C89955533A	NBN	NM_002485.5(NBN):c.1147G>T:p.Glu383Ter	coding	Pathogenic
8	89955634	G	T	G89955634T	NBN	NM_002485.5(NBN):c.1125-79C>A	noncoding	Benign
8	89955641	C	T	C89955641T	NBN	NM_002485.5(NBN):c.1125-86G>A	noncoding	Benign
8	89955813	A	G	A89955813G	NBN	NM_002485.5(NBN):c.1125-258T>C	noncoding	Benign
8	89958634	G	T	G89958634T	NBN	NM_002485.5(NBN):c.1124+91C>A	noncoding	Benign
8	89958743	G	C	G89958743C	NBN	NM_002485.5(NBN):c.1106C>G:p.Ser369Ter	coding	Pathogenic
8	89958821	G	C	G89958821C	NBN	NM_002485.5(NBN):c.1028C>G:p.Ser343Ter	coding	Pathogenic
8	89958856	T	C	T89958856C	NBN	NM_002485.5(NBN):c.995-2A>G	noncoding	Pathogenic/Likely_pathogenic
8	89964177	C	T	C89964177T	NBN	NM_002485.5(NBN):c.994+233G>A	noncoding	Benign
8	89964390	T	C	T89964390C	NBN	NM_002485.5(NBN):c.994+20A>G	noncoding	Benign/Likely_benign
8	89964571	T	C	T89964571C	NBN	NM_002485.5(NBN):c.897-64A>G	noncoding	Benign
8	89964678	G	A	G89964678A	NBN	NM_002485.5(NBN):c.897-171C>T	noncoding	Benign
8	89970197	C	T	C89970197T	NBN	NM_002485.5(NBN):c.896+167G>A	noncoding	Benign
8	89970328	C	T	C89970328T	NBN	NM_002485.5(NBN):c.896+36G>A	noncoding	Benign/Likely_benign
8	89970337	T	G	T89970337G	NBN	NM_002485.5(NBN):c.896+27A>C	noncoding	Benign/Likely_benign
8	89970351	A	C	A89970351C	NBN	NM_002485.5(NBN):c.896+13T>G	noncoding	Benign/Likely_benign
8	89970360	A	G	A89970360G	NBN	NM_002485.5(NBN):c.896+4T>C	noncoding	Benign/Likely_benign
8	89970441	T	A	T89970441A	NBN	NM_002485.5(NBN):c.819A>T:p.Thr273=	coding	Benign/Likely_benign
8	89970518	C	A	C89970518A	NBN	NM_002485.5(NBN):c.742G>T:p.Glu248Ter	coding	Pathogenic
8	89970586	G	A	G89970586A	NBN	NM_002485.5(NBN):c.703-29C>T	noncoding	Benign/Likely_benign
8	89971023	C	A	C89971023A	NBN	NM_002485.5(NBN):c.702+150G>T	noncoding	Benign
8	89971024	A	G	A89971024G	NBN	NM_002485.5(NBN):c.702+149T>C	noncoding	Benign
8	89971157	C	G	C89971157G	NBN	NM_002485.5(NBN):c.702+16G>C	noncoding	Benign/Likely_benign
8	89971287	A	G	A89971287G	NBN	NM_002485.5(NBN):c.588T>C:p.Phe196=	coding	Benign/Likely_benign
8	89971300	T	C	T89971300C	NBN	NM_002485.5(NBN):c.585-10A>G	noncoding	Benign
8	89971371	C	T	C89971371T	NBN	NM_002485.5(NBN):c.585-81G>A	noncoding	Benign
8	89977893	C	T	C89977893T	NBN	NM_002485.5(NBN):c.584+327G>A	noncoding	Benign
8	89978224	C	A	C89978224A	NBN	NM_002485.5(NBN):c.580G>T:p.Glu194Ter	coding	Pathogenic
8	89978281	C	A	C89978281A	NBN	NM_002485.5(NBN):c.523G>T:p.Glu175Ter	coding	Pathogenic
8	89978327	C	T	C89978327T	NBN	NM_002485.5(NBN):c.481-4G>A	noncoding	Benign/Likely_benign
8	89980442	G	C	G89980442C	NBN	NM_002485.5(NBN):c.480+292C>G	noncoding	Benign
8	89980922	C	T	C89980922T	NBN	NM_002485.5(NBN):c.321-29G>A	noncoding	Benign
8	89980982	A	T	A89980982T	NBN	NM_002485.5(NBN):c.321-89T>A	noncoding	Benign
8	89981167	C	T	C89981167T	NBN	NM_002485.5(NBN):c.320+208G>A	noncoding	Benign
8	89981397	C	A	C89981397A	NBN	NM_002485.5(NBN):c.298G>T:p.Gly100Ter	coding	Pathogenic
8	89981417	G	T	G89981417T	NBN	NM_002485.5(NBN):c.278C>A:p.Ser93Ter	coding	Pathogenic
8	89981478	T	A	T89981478A	NBN	NM_002485.5(NBN):c.217A>T:p.Lys73Ter	coding	Pathogenic
8	89981589	T	G	T89981589G	NBN	NM_002485.5(NBN):c.172-66A>C	noncoding	Benign
8	89981655	C	T	C89981655T	NBN	NM_002485.5(NBN):c.172-132G>A	noncoding	Benign
8	89982750	A	C	A89982750C	NBN	NM_002485.5(NBN):c.143T>G:p.Leu48Ter	coding	Pathogenic
8	89982845	G	C	G89982845C	NBN	NM_002485.5(NBN):c.48C>G:p.Tyr16Ter	coding	Pathogenic
8	89982874	T	A	T89982874A	NBN	NM_002485.5(NBN):c.38-19A>T	noncoding	Benign/Likely_benign
8	89983138	C	T	C89983138T	NBN	NM_002485.5(NBN):c.38-283G>A	noncoding	Benign
8	89983163	T	C	T89983163C	NBN	NM_002485.5(NBN):c.38-308A>G	noncoding	Benign
8	89984288	G	A	G89984288A	NBN	NM_002485.5(NBN):c.37+237C>T	noncoding	Benign
8	89984495	T	C	T89984495C	NBN	NM_002485.5(NBN):c.37+30A>G	noncoding	Benign
8	89984556	C	T	C89984556T	NBN	NM_002485.5(NBN):c.6G>A:p.Trp2Ter	coding	Pathogenic/Likely_pathogenic
8	89984557	C	T	C89984557T	NBN	NM_002485.5(NBN):c.5G>A:p.Trp2Ter	coding	Pathogenic
8	89984577	G	A	G89984577A	NBN	NM_002485.5(NBN):c.-16C>T	noncoding	Benign/Likely_benign
8	91070403	G	T	G91070403T	OTUD6B	NM_016023.5(OTUD6B):c.19G>T:p.Glu7Ter	coding	Pathogenic
8	91071196	A	G	A91071196G	OTUD6B	NM_016023.5(OTUD6B):c.141A>G:p.Gln47=	coding	Benign
8	91078345	G	C	G91078345C	OTUD6B	NM_016023.5(OTUD6B):c.316-11G>C	noncoding	Benign
8	91080671	G	T	G91080671T	OTUD6B	NM_016023.5(OTUD6B):c.631G>T:p.Glu211Ter	coding	Pathogenic
8	93704942	C	T	C93704942T	CIBAR1	NM_145269.5(CIBAR1):c.364C>T:p.Arg122Ter	coding	Pathogenic
8	93754619	T	G	T93754619G	TMEM67	Single_allele	noncoding	Benign
8	93755784	C	A	C93755784A	TMEM67	NM_153704.6(TMEM67):c.230C>A:p.Ser77Ter	coding	Pathogenic
8	93755868	T	G	T93755868G	TMEM67	NM_153704.6(TMEM67):c.312+2T>G	noncoding	Pathogenic
8	93755880	A	G	A93755880G	TMEM67	NM_153704.6(TMEM67):c.312+14A>G	noncoding	Benign/Likely_benign
8	93758387	C	G	C93758387G	TMEM67	NM_153704.6(TMEM67):c.313-96C>G	noncoding	Benign
8	93763894	T	A	T93763894A	TMEM67	NM_153704.6(TMEM67):c.459T>A:p.Cys153Ter	coding	Pathogenic
8	93763959	G	T	G93763959T	TMEM67	NM_153704.6(TMEM67):c.506+18G>T	noncoding	Benign/Likely_benign
8	93772651	G	A	G93772651A	TMEM67	NM_153704.6(TMEM67):c.714G>A:p.Trp238Ter	coding	Pathogenic
8	93772669	A	T	A93772669T	TMEM67	NM_153704.6(TMEM67):c.714+18A>T	noncoding	Benign/Likely_benign
8	93781378	T	C	T93781378C	TMEM67	NM_153704.6(TMEM67):c.979-280T>C	noncoding	Benign
8	93781551	A	G	A93781551G	TMEM67	NM_153704.6(TMEM67):c.979-107A>G	noncoding	Benign
8	93786252	C	T	C93786252T	TMEM67	NM_153704.6(TMEM67):c.1318C>T:p.Arg440Trp	coding	Pathogenic
8	93786321	C	T	C93786321T	TMEM67	NM_153704.6(TMEM67):c.1387C>T:p.Arg463Ter	coding	Pathogenic
8	93786547	G	A	G93786547A	TMEM67	NM_153704.6(TMEM67):c.1412+201G>A	noncoding	Benign
8	93793260	G	A	G93793260A	TMEM67	NM_153704.6(TMEM67):c.1638G>A:p.Trp546Ter	coding	Pathogenic
8	93795972	T	A	T93795972A	TMEM67	NM_153704.6(TMEM67):c.1845T>A:p.Cys615Ter	coding	Pathogenic
8	93796957	C	T	C93796957T	TMEM67	NM_153704.6(TMEM67):c.1861-177C>T	noncoding	Benign
8	93797200	C	T	C93797200T	TMEM67	NM_153704.6(TMEM67):c.1927C>T:p.Arg643Ter	coding	Pathogenic
8	93797235	T	C	T93797235C	TMEM67	NM_153704.6(TMEM67):c.1960+2T>C	noncoding	Pathogenic
8	93797345	C	T	C93797345T	TMEM67	NM_153704.6(TMEM67):c.1975C>T:p.Arg659Ter	coding	Pathogenic
8	93797457	T	C	T93797457C	TMEM67	NM_153704.6(TMEM67):c.2087T>C:p.Leu696Pro	coding	Pathogenic
8	93799425	A	C	A93799425C	TMEM67	NM_153704.6(TMEM67):c.2101-193A>C	noncoding	Benign
8	93799452	T	C	T93799452C	TMEM67	NM_153704.6(TMEM67):c.2101-166T>C	noncoding	Benign
8	93799639	G	C	G93799639C	TMEM67	NM_153704.6(TMEM67):c.2122G>C:p.Ala708Pro	coding	Pathogenic
8	93799773	A	G	A93799773G	TMEM67	NM_153704.6(TMEM67):c.2241+15A>G	noncoding	Benign
8	93804765	T	A	T93804765A	TMEM67	NM_153704.6(TMEM67):c.2326T>A:p.Ser776Thr	coding	Pathogenic
8	93804784	A	G	A93804784G	TMEM67	NM_153704.6(TMEM67):c.2345A>G:p.His782Arg	coding	Pathogenic
8	93804878	G	A	G93804878A	TMEM67	NM_153704.6(TMEM67):c.2439G>A:p.Ala813=	coding	Pathogenic
8	93917186	G	T	G93917186T	PDP1	NM_018444.4(PDP1):c.-45+107G>T	noncoding	Benign
8	93917734	C	T	C93917734T	PDP1	NM_018444.4(PDP1):c.-45+655C>T	noncoding	Benign
8	93922477	T	C	T93922477C	PDP1	NM_018444.4(PDP1):c.418T>C:p.Leu140=	coding	Benign/Likely_benign
8	93923709	T	C	T93923709C	PDP1	NM_018444.4(PDP1):c.*36T>C	noncoding	Benign
8	94130944	T	G	T94130944G	CDH17	NM_004063.4(CDH17):c.2216A>C:p.Glu739Ala	coding	Benign
8	94378693	C	T	C94378693T	RAD54B	NM_012415.3(RAD54B):c.2248-59G>A	noncoding	Benign
8	94379827	C	T	C94379827T	RAD54B	NM_012415.3(RAD54B):c.2247+318G>A	noncoding	Benign
8	94386817	C	T	C94386817T	RAD54B	NM_012415.3(RAD54B):c.1985+167G>A	noncoding	Benign
8	94387323	A	T	A94387323T	RAD54B	NM_012415.3(RAD54B):c.1810-164T>A	noncoding	Benign
8	94387390	C	T	C94387390T	RAD54B	NM_012415.3(RAD54B):c.1810-231G>A	noncoding	Benign
8	94392147	A	C	A94392147C	RAD54B	NM_012415.3(RAD54B):c.1519-248T>G	noncoding	Benign
8	94394048	A	G	A94394048G	RAD54B	NM_012415.3(RAD54B):c.1379-166T>C	noncoding	Benign
8	94394203	A	C	A94394203C	RAD54B	NM_012415.3(RAD54B):c.1379-321T>G	noncoding	Benign
8	94400010	C	T	C94400010T	RAD54B	NM_012415.3(RAD54B):c.1170+228G>A	noncoding	Benign
8	94407470	A	G	A94407470G	RAD54B	NM_012415.3(RAD54B):c.750T>C:p.Asn250=	coding	Benign
8	94411065	C	T	C94411065T	RAD54B	NM_012415.3(RAD54B):c.499+56G>A	noncoding	Benign
8	94458044	C	A	C94458044A	RAD54B	NM_012415.3(RAD54B):c.304+224G>T	noncoding	Benign
8	94458469	C	A	C94458469A	RAD54B	NM_012415.3(RAD54B):c.136-33G>T	noncoding	Benign
8	94458513	T	C	T94458513C	RAD54B	NM_012415.3(RAD54B):c.136-77A>G	noncoding	Benign
8	94467452	G	C	G94467452C	RAD54B	NM_012415.3(RAD54B):c.88C>G:p.Leu30Val	coding	Benign
8	94646298	T	C	T94646298C	ESRP1	NM_017697.4(ESRP1):c.490+16T>C	noncoding	Benign
8	94664904	T	C	T94664904C	ESRP1	NM_017697.4(ESRP1):c.756-23T>C	noncoding	Benign
8	94668001	C	T	C94668001T	ESRP1	NM_017697.4(ESRP1):c.984C>T:p.Val328=	coding	Benign
8	94678351	T	C	T94678351C	ESRP1	NM_017697.4(ESRP1):c.1800T>C:p.Asn600=	coding	Benign
8	94841480	G	A	G94841480A	INTS8	NM_017864.4(INTS8):c.1018-11G>A	noncoding	Benign
8	94865559	T	C	T94865559C	INTS8	NM_017864.4(INTS8):c.2130T>C:p.Ser710=	coding	Benign
8	94876079	C	T	C94876079T	INTS8	NM_017864.4(INTS8):c.2694C>T:p.Ala898=	coding	Benign
8	95024928	A	G	A95024928G	NDUFAF6	NM_001354514.2(NDUFAF6):c.-83-7067A>G	noncoding	Benign
8	95025037	G	A	G95025037A	NDUFAF6	NM_152416.4(NDUFAF6):c.29G>A:p.Trp10Ter	coding	Pathogenic
8	95025056	C	G	C95025056G	NDUFAF6	NM_152416.4(NDUFAF6):c.48C>G:p.Gly16=	coding	Benign/Likely_benign
8	95034686	T	C	T95034686C	NDUFAF6	NM_152416.4(NDUFAF6):c.298-768T>C	noncoding	Pathogenic
8	95035380	A	G	A95035380G	NDUFAF6	NM_152416.4(NDUFAF6):c.298-74A>G	noncoding	Benign
8	95035393	G	C	G95035393C	NDUFAF6	NM_152416.4(NDUFAF6):c.298-61G>C	noncoding	Benign
8	95035705	C	G	C95035705G	NDUFAF6	NM_152416.4(NDUFAF6):c.420+129C>G	noncoding	Benign
8	95041263	C	T	C95041263T	NDUFAF6	NM_152416.4(NDUFAF6):c.421-307C>T	noncoding	Benign
8	95041772	C	T	C95041772T	NDUFAF6	NM_152416.4(NDUFAF6):c.477+146C>T	noncoding	Benign
8	95041820	A	C	A95041820C	NDUFAF6	NM_152416.4(NDUFAF6):c.477+194A>C	noncoding	Benign
8	95045253	G	A	G95045253A	NDUFAF6	NM_152416.4(NDUFAF6):c.478-292G>A	noncoding	Benign
8	95045722	T	C	T95045722C	NDUFAF6	NM_152416.4(NDUFAF6):c.580+75T>C	noncoding	Benign
8	95046814	G	C	G95046814C	NDUFAF6	NM_152416.4(NDUFAF6):c.581-180G>C	noncoding	Benign
8	95048252	T	C	T95048252C	NDUFAF6	NM_152416.4(NDUFAF6):c.715-205T>C	noncoding	Benign
8	95048284	G	A	G95048284A	NDUFAF6	NM_152416.4(NDUFAF6):c.715-173G>A	noncoding	Benign
8	95048864	T	C	T95048864C	NDUFAF6	NM_152416.4(NDUFAF6):c.816+306T>C	noncoding	Benign
8	95052514	G	T	G95052514T	NDUFAF6	NM_152416.4(NDUFAF6):c.873+284G>T	noncoding	Benign
8	95057601	A	G	A95057601G	NDUFAF6	NM_152416.4(NDUFAF6):c.874-208A>G	noncoding	Benign
8	95057953	T	C	T95057953C	NDUFAF6	NM_152416.4(NDUFAF6):c.*16T>C	noncoding	Benign
8	95058145	T	C	T95058145C	NDUFAF6	NM_152416.4(NDUFAF6):c.*208T>C	noncoding	Benign
8	95058246	G	A	G95058246A	NDUFAF6	NM_152416.4(NDUFAF6):c.*309G>A	noncoding	Benign
8	95260563	T	C	T95260563C	CFAP418	NM_177965.4(CFAP418):c.244-31A>G	noncoding	Benign
8	95263667	A	G	A95263667G	CFAP418	NM_177965.4(CFAP418):c.243+20T>C	noncoding	Benign
8	95269015	A	C	A95269015C	CFAP418	NM_177965.4(CFAP418):c.155+20T>G	noncoding	Benign
8	95269171	C	A	C95269171A	CFAP418	NM_177965.4(CFAP418):c.19G>T:p.Glu7Ter	coding	Pathogenic
8	95269264	G	T	G95269264T	CFAP418	Single_allele	noncoding	Benign
8	96144951	G	T	G96144951T	GDF6	NM_001001557.4(GDF6):c.980C>A:p.Pro327His	coding	Benign
8	96145010	C	G	C96145010G	GDF6	NM_001001557.4(GDF6):c.921G>C:p.Ala307=	coding	Benign
8	96145029	T	C	T96145029C	GDF6	NM_001001557.4(GDF6):c.902A>G:p.Glu301Gly	coding	Benign
8	96145055	C	G	C96145055G	GDF6	NM_001001557.4(GDF6):c.876G>C:p.Glu292Asp	coding	Benign
8	96145544	T	G	T96145544G	GDF6	NM_001001557.4(GDF6):c.407-20A>C	noncoding	Benign
8	96145563	G	A	G96145563A	GDF6	NM_001001557.4(GDF6):c.407-39C>T	noncoding	Benign/Likely_benign
8	96160178	A	T	A96160178T	GDF6	NM_001001557.4(GDF6):c.406+109T>A	noncoding	Benign
8	96160443	C	T	C96160443T	GDF6	NM_001001557.4(GDF6):c.250G>A:p.Glu84Lys	coding	Benign/Likely_benign
8	96161051	G	A	G96161051A	GDF6	Single_allele	noncoding	Benign
8	96231112	C	T	C96231112T	UQCRB	NM_006294.5(UQCRB):c.279G>A:p.Pro93=	coding	Benign/Likely_benign
8	96231492	G	A	G96231492A	UQCRB	NM_006294.5(UQCRB):c.258+282C>T	coding	Benign
8	96233527	C	T	C96233527T	UQCRB	NM_006294.5(UQCRB):c.20-300G>A	noncoding	Benign
8	96235770	A	T	A96235770T	UQCRB	Single_allele	noncoding	Benign
8	96261601	C	G	C96261601G	PTDSS1	NM_015942.5(MTERF3):c.-111G>C	noncoding	Benign
8	96261750	A	C	A96261750C	PTDSS1	Single_allele	noncoding	Benign
8	96261759	A	G	A96261759G	PTDSS1	Single_allele	noncoding	Benign
8	96273201	G	A	G96273201A	PTDSS1	NM_014754.3(PTDSS1):c.180-98G>A	noncoding	Benign
8	96273614	G	C	G96273614C	PTDSS1	NM_014754.3(PTDSS1):c.271+224G>C	noncoding	Benign
8	96283817	A	G	A96283817G	PTDSS1	NM_014754.3(PTDSS1):c.272-292A>G	noncoding	Benign
8	96283922	G	T	G96283922T	PTDSS1	NM_014754.3(PTDSS1):c.272-187G>T	noncoding	Benign
8	96284339	C	T	C96284339T	PTDSS1	NM_014754.3(PTDSS1):c.316+186C>T	noncoding	Benign
8	96286728	T	C	T96286728C	PTDSS1	NM_014754.3(PTDSS1):c.317-294T>C	noncoding	Benign
8	96286840	G	A	G96286840A	PTDSS1	NM_014754.3(PTDSS1):c.317-182G>A	noncoding	Benign
8	96299602	A	G	A96299602G	PTDSS1	NM_014754.3(PTDSS1):c.601-92A>G	noncoding	Benign
8	96303785	G	A	G96303785A	PTDSS1	NM_014754.3(PTDSS1):c.753-255G>A	noncoding	Benign
8	96304025	A	G	A96304025G	PTDSS1	NM_014754.3(PTDSS1):c.753-15A>G	noncoding	Benign
8	96304147	T	C	T96304147C	PTDSS1	NM_014754.3(PTDSS1):c.860T>C:p.Val287Ala	coding	Benign
8	96306432	C	T	C96306432T	PTDSS1	NM_014754.3(PTDSS1):c.895-12C>T	noncoding	Benign
8	96309670	T	A	T96309670A	PTDSS1	NM_014754.3(PTDSS1):c.1073+48T>A	noncoding	Benign
8	96309731	A	G	A96309731G	PTDSS1	NM_014754.3(PTDSS1):c.1073+109A>G	noncoding	Benign
8	96320023	A	G	A96320023G	PTDSS1	NM_014754.3(PTDSS1):c.1074-223A>G	noncoding	Benign
8	96320433	A	G	A96320433G	PTDSS1	NM_014754.3(PTDSS1):c.1173+88A>G	noncoding	Benign
8	96320624	T	C	T96320624C	PTDSS1	NM_014754.3(PTDSS1):c.1173+279T>C	noncoding	Benign
8	96330308	A	G	A96330308G	PTDSS1	NM_014754.3(PTDSS1):c.1242+27A>G	noncoding	Benign
8	96330334	C	T	C96330334T	PTDSS1	NM_014754.3(PTDSS1):c.1242+53C>T	noncoding	Benign
8	96330354	C	T	C96330354T	PTDSS1	NM_014754.3(PTDSS1):c.1242+73C>T	noncoding	Benign
8	96330948	G	T	G96330948T	PTDSS1	NM_014754.3(PTDSS1):c.1243-78G>T	noncoding	Benign
8	96331100	C	A	C96331100A	PTDSS1	NM_014754.3(PTDSS1):c.1312+5C>A	noncoding	Benign
8	96331112	C	T	C96331112T	PTDSS1	NM_014754.3(PTDSS1):c.1312+17C>T	noncoding	Benign
8	96333132	T	G	T96333132G	PTDSS1	NM_014754.3(PTDSS1):c.1313-325T>G	noncoding	Benign
8	96333362	A	G	A96333362G	PTDSS1	NM_014754.3(PTDSS1):c.1313-95A>G	noncoding	Benign
8	96602433	T	A	T96602433A	SDC2	NM_002998.4(SDC2):c.211T>A:p.Ser71Thr	coding	Benign
8	98123209	A	G	A98123209G	POP1	NM_001145860.2(POP1):c.-2-127A>G	noncoding	Benign
8	98123559	A	G	A98123559G	POP1	NM_001145860.2(POP1):c.142+80A>G	noncoding	Benign
8	98127382	C	T	C98127382T	POP1	NM_001145860.2(POP1):c.143-213C>T	noncoding	Benign
8	98127980	T	G	T98127980G	POP1	NM_001145860.2(POP1):c.310+218T>G	noncoding	Benign
8	98128151	T	G	T98128151G	POP1	NM_001145860.2(POP1):c.311-214T>G	noncoding	Benign
8	98133720	G	A	G98133720A	POP1	NM_001145860.2(POP1):c.736-229G>A	noncoding	Benign
8	98133876	C	T	C98133876T	POP1	NM_001145860.2(POP1):c.736-73C>T	noncoding	Benign
8	98134279	T	A	T98134279A	POP1	NM_001145860.2(POP1):c.824-193T>A	noncoding	Benign
8	98134377	A	C	A98134377C	POP1	NM_001145860.2(POP1):c.824-95A>C	noncoding	Benign
8	98134434	C	T	C98134434T	POP1	NM_001145860.2(POP1):c.824-38C>T	noncoding	Benign
8	98136388	T	G	T98136388G	POP1	NM_001145860.2(POP1):c.1012-94T>G	noncoding	Benign
8	98136413	C	A	C98136413A	POP1	NM_001145860.2(POP1):c.1012-69C>A	noncoding	Benign
8	98136429	G	A	G98136429A	POP1	NM_001145860.2(POP1):c.1012-53G>A	noncoding	Benign
8	98136471	T	C	T98136471C	POP1	NM_001145860.2(POP1):c.1012-11T>C	noncoding	Benign
8	98136697	A	G	A98136697G	POP1	NM_001145860.2(POP1):c.1227A>G:p.Leu409=	coding	Benign
8	98139731	G	A	G98139731A	POP1	NM_001145860.2(POP1):c.1363-347G>A	noncoding	Benign
8	98139898	G	A	G98139898A	POP1	NM_001145860.2(POP1):c.1363-180G>A	noncoding	Benign
8	98139902	G	T	G98139902T	POP1	NM_001145860.2(POP1):c.1363-176G>T	noncoding	Benign
8	98139942	C	T	C98139942T	POP1	NM_001145860.2(POP1):c.1363-136C>T	noncoding	Benign
8	98139955	T	C	T98139955C	POP1	NM_001145860.2(POP1):c.1363-123T>C	noncoding	Benign
8	98140645	A	G	A98140645G	POP1	NM_001145860.2(POP1):c.1475-124A>G	noncoding	Benign
8	98140860	A	C	A98140860C	POP1	NM_001145860.2(POP1):c.1566A>C:p.Lys522Asn	coding	Benign
8	98140898	C	T	C98140898T	POP1	NM_001145860.2(POP1):c.1594+10C>T	noncoding	Benign
8	98140932	C	T	C98140932T	POP1	NM_001145860.2(POP1):c.1594+44C>T	noncoding	Benign
8	98141058	G	T	G98141058T	POP1	NM_001145860.2(POP1):c.1594+170G>T	noncoding	Benign
8	98146363	A	G	A98146363G	POP1	NM_001145860.2(POP1):c.1595-205A>G	noncoding	Benign
8	98146376	G	A	G98146376A	POP1	NM_001145860.2(POP1):c.1595-192G>A	noncoding	Benign
8	98146550	A	G	A98146550G	POP1	NM_001145860.2(POP1):c.1595-18A>G	noncoding	Benign
8	98148608	A	C	A98148608C	POP1	NM_001145860.2(POP1):c.1711-207A>C	noncoding	Benign
8	98148729	T	C	T98148729C	POP1	NM_001145860.2(POP1):c.1711-86T>C	noncoding	Benign
8	98149015	C	T	C98149015T	POP1	NM_001145860.2(POP1):c.1902+9C>T	noncoding	Benign
8	98149099	C	T	C98149099T	POP1	NM_001145860.2(POP1):c.1902+93C>T	noncoding	Benign
8	98150240	T	C	T98150240C	POP1	NM_001145860.2(POP1):c.1903-245T>C	noncoding	Benign
8	98150406	T	C	T98150406C	POP1	NM_001145860.2(POP1):c.1903-79T>C	noncoding	Benign
8	98150490	T	C	T98150490C	POP1	NM_001145860.2(POP1):c.1908T>C:p.Tyr636=	coding	Benign
8	98150660	A	G	A98150660G	POP1	NM_001145860.2(POP1):c.2057+21A>G	noncoding	Benign
8	98156083	G	A	G98156083A	POP1	NM_001145860.2(POP1):c.2091G>A:p.Lys697=	coding	Benign
8	98156155	T	C	T98156155C	POP1	NM_001145860.2(POP1):c.2163T>C:p.Ala721=	coding	Benign
8	98156254	G	A	G98156254A	POP1	NM_001145860.2(POP1):c.2262G>A:p.Gln754=	coding	Benign
8	98156593	T	C	T98156593C	POP1	NM_001145860.2(POP1):c.2420+181T>C	noncoding	Benign
8	98157665	T	A	T98157665A	POP1	NM_001145860.2(POP1):c.2469T>A:p.Ser823=	coding	Benign
8	98157684	C	T	C98157684T	POP1	NM_001145860.2(POP1):c.2488C>T:p.Arg830Trp	coding	Benign
8	98157695	C	T	C98157695T	POP1	NM_001145860.2(POP1):c.2499C>T:p.Pro833=	coding	Benign
8	98157728	T	C	T98157728C	POP1	NM_001145860.2(POP1):c.2532T>C:p.Ala844=	coding	Benign
8	98158176	C	G	C98158176G	POP1	NM_001145860.2(POP1):c.2980C>G:p.Leu994Val	coding	Benign
8	99013933	C	T	C99013933T	VPS13B	NM_152564.5(VPS13B):c.145C>T:p.Gln49Ter	coding	Pathogenic
8	99014047	T	C	T99014047C	VPS13B	NM_152564.5(VPS13B):c.147+112T>C	noncoding	Benign
8	99096042	A	C	A99096042C	VPS13B	NM_152564.5(VPS13B):c.292-270A>C	noncoding	Benign
8	99102951	A	G	A99102951G	VPS13B	NM_152564.5(VPS13B):c.413-2A>G	noncoding	Pathogenic
8	99111181	G	T	G99111181T	VPS13B	NM_152564.5(VPS13B):c.664G>T:p.Glu222Ter	coding	Pathogenic
8	99121282	G	A	G99121282A	VPS13B	NM_152564.5(VPS13B):c.1043G>A:p.Trp348Ter	coding	Pathogenic
8	99121312	G	A	G99121312A	VPS13B	NM_152564.5(VPS13B):c.1073G>A:p.Ser358Asn	coding	Benign/Likely_benign
8	99121380	C	T	C99121380T	VPS13B	NM_152564.5(VPS13B):c.1141C>T:p.Gln381Ter	coding	Pathogenic
8	99121389	A	T	A99121389T	VPS13B	NM_152564.5(VPS13B):c.1150A>T:p.Lys384Ter	coding	Pathogenic/Likely_pathogenic
8	99121699	A	G	A99121699G	VPS13B	NM_152564.5(VPS13B):c.1206+254A>G	coding	Benign
8	99135011	A	G	A99135011G	VPS13B	NM_152564.5(VPS13B):c.1303-4A>G	noncoding	Benign
8	99143079	T	A	T99143079A	VPS13B	NM_152564.5(VPS13B):c.1757T>A:p.Leu586Ter	coding	Pathogenic
8	99143340	G	T	G99143340T	VPS13B	NM_152564.5(VPS13B):c.1843+175G>T	noncoding	Benign
8	99143448	T	C	T99143448C	VPS13B	NM_152564.5(VPS13B):c.1843+283T>C	noncoding	Benign
8	99156725	T	G	T99156725G	VPS13B	NM_152564.5(VPS13B):c.2190T>G:p.Tyr730Ter	coding	Pathogenic
8	99192876	G	A	G99192876A	VPS13B	NM_152564.5(VPS13B):c.2334G>A:p.Trp778Ter	coding	Pathogenic
8	99192967	C	T	C99192967T	VPS13B	NM_152564.5(VPS13B):c.2425C>T:p.Gln809Ter	coding	Pathogenic
8	99274052	T	C	T99274052C	VPS13B	NM_152564.5(VPS13B):c.2516-146T>C	noncoding	Benign
8	99274242	C	T	C99274242T	VPS13B	NM_152564.5(VPS13B):c.2560C>T:p.Gln854Ter	coding	Pathogenic
8	99274265	C	A	C99274265A	VPS13B	NM_152564.5(VPS13B):c.2583C>A:p.Cys861Ter	coding	Pathogenic
8	99275066	A	C	A99275066C	VPS13B	NM_152564.5(VPS13B):c.2651-15A>C	noncoding	Benign/Likely_benign
8	99275338	T	A	T99275338A	VPS13B	NM_152564.5(VPS13B):c.2824+84T>A	noncoding	Benign
8	99275340	T	A	T99275340A	VPS13B	NM_152564.5(VPS13B):c.2824+86T>A	noncoding	Benign
8	99275351	G	C	G99275351C	VPS13B	NM_152564.5(VPS13B):c.2824+97G>C	noncoding	Benign
8	99383956	C	T	C99383956T	VPS13B	NM_152564.5(VPS13B):c.2825-252C>T	noncoding	Benign
8	99384262	T	G	T99384262G	VPS13B	NM_152564.5(VPS13B):c.2879T>G:p.Leu960Ter	coding	Pathogenic
8	99384288	C	T	C99384288T	VPS13B	NM_152564.5(VPS13B):c.2905C>T:p.Gln969Ter	coding	Pathogenic
8	99384607	A	G	A99384607G	VPS13B	NM_152564.5(VPS13B):c.2934+290A>G	noncoding	Benign
8	99391644	C	T	C99391644T	VPS13B	NM_152564.5(VPS13B):c.3022C>T:p.Gln1008Ter	coding	Pathogenic
8	99391647	C	T	C99391647T	VPS13B	NM_152564.5(VPS13B):c.3025C>T:p.Gln1009Ter	coding	Pathogenic
8	99431451	A	T	A99431451T	VPS13B	NM_152564.5(VPS13B):c.3083-86A>T	noncoding	Benign
8	99431605	G	T	G99431605T	VPS13B	NM_152564.5(VPS13B):c.3151G>T:p.Glu1051Ter	coding	Pathogenic
8	99431848	A	C	A99431848C	VPS13B	NM_152564.5(VPS13B):c.3210+184A>C	noncoding	Benign
8	99431975	T	A	T99431975A	VPS13B	NM_152564.5(VPS13B):c.3210+311T>A	noncoding	Benign
8	99442576	A	G	A99442576G	VPS13B	NM_152564.5(VPS13B):c.3386A>G:p.Lys1129Arg	coding	Benign/Likely_benign
8	99442882	G	A	G99442882A	VPS13B	NM_152564.5(VPS13B):c.3445+247G>A	noncoding	Benign
8	99467391	T	G	T99467391G	VPS13B	NM_152564.5(VPS13B):c.3446-23T>G	noncoding	Pathogenic
8	99467429	G	A	G99467429A	VPS13B	NM_152564.5(VPS13B):c.3461G>A:p.Trp1154Ter	coding	Pathogenic
8	99467632	C	T	C99467632T	VPS13B	NM_152564.5(VPS13B):c.3664C>T:p.Gln1222Ter	coding	Pathogenic
8	99467689	T	C	T99467689C	VPS13B	NM_152564.5(VPS13B):c.3666+55T>C	noncoding	Benign
8	99467833	A	G	A99467833G	VPS13B	NM_152564.5(VPS13B):c.3666+199A>G	noncoding	Benign
8	99467923	A	C	A99467923C	VPS13B	NM_152564.5(VPS13B):c.3666+289A>C	noncoding	Benign
8	99501531	G	A	G99501531A	VPS13B	NM_152564.5(VPS13B):c.3871-156G>A	noncoding	Benign
8	99501790	G	A	G99501790A	VPS13B	NM_152564.5(VPS13B):c.3974G>A:p.Trp1325Ter	coding	Pathogenic
8	99507752	C	T	C99507752T	VPS13B	NM_152564.5(VPS13B):c.4224+549C>T	noncoding	Benign/Likely_benign
8	99507850	T	A	T99507850A	VPS13B	NM_017890.5(VPS13B):c.4238T>A:p.Leu1413Ter	coding	Pathogenic/Likely_pathogenic
8	99511050	T	A	T99511050A	VPS13B	NM_152564.5(VPS13B):c.4225-54T>A	noncoding	Benign
8	99511215	C	T	C99511215T	VPS13B	NM_152564.5(VPS13B):c.4336C>T:p.Arg1446Ter	coding	Pathogenic/Likely_pathogenic
8	99511565	C	T	C99511565T	VPS13B	NM_152564.5(VPS13B):c.4633+53C>T	noncoding	Benign
8	99511814	G	A	G99511814A	VPS13B	NM_152564.5(VPS13B):c.4633+302G>A	noncoding	Benign
8	99520982	A	T	A99520982T	VPS13B	NM_152564.5(VPS13B):c.4717A>T:p.Arg1573Ter	coding	Pathogenic
8	99521011	G	A	G99521011A	VPS13B	NM_152564.5(VPS13B):c.4745+1G>A	coding	Pathogenic
8	99556365	C	T	C99556365T	VPS13B	NM_152564.5(VPS13B):c.4746-85C>T	noncoding	Benign
8	99556435	T	C	T99556435C	VPS13B	NM_152564.5(VPS13B):c.4746-15T>C	noncoding	Benign/Likely_benign
8	99556475	C	T	C99556475T	VPS13B	NM_152564.5(VPS13B):c.4771C>T:p.Arg1591Ter	coding	Pathogenic/Likely_pathogenic
8	99556511	C	T	C99556511T	VPS13B	NM_152564.5(VPS13B):c.4807C>T:p.Gln1603Ter	coding	Pathogenic
8	99556552	G	A	G99556552A	VPS13B	NM_152564.5(VPS13B):c.4848G>A:p.Trp1616Ter	coding	Pathogenic/Likely_pathogenic
8	99642495	A	G	A99642495G	VPS13B	NM_152564.5(VPS13B):c.5905A>G:p.Ile1969Val	coding	Benign/Likely_benign
8	99642777	G	A	G99642777A	VPS13B	NM_152564.5(VPS13B):c.5908+279G>A	noncoding	Benign
8	99661027	T	A	T99661027A	VPS13B	NM_152564.5(VPS13B):c.5909-327T>A	noncoding	Benign
8	99661193	G	A	G99661193A	VPS13B	NM_152564.5(VPS13B):c.5909-161G>A	noncoding	Benign
8	99699555	T	A	T99699555A	VPS13B	NM_152564.5(VPS13B):c.6077T>A:p.Leu2026Ter	coding	Pathogenic
8	99699793	C	A	C99699793A	VPS13B	NM_152564.5(VPS13B):c.6315C>A:p.Cys2105Ter	coding	Pathogenic
8	99699821	C	T	C99699821T	VPS13B	NM_152564.5(VPS13B):c.6343C>T:p.Gln2115Ter	coding	Pathogenic/Likely_pathogenic
8	99699873	T	A	T99699873A	VPS13B	NM_152564.5(VPS13B):c.6395T>A:p.Leu2132Ter	coding	Pathogenic
8	99717186	C	A	C99717186A	VPS13B	NM_152564.5(VPS13B):c.6470C>A:p.Ser2157Ter	coding	Pathogenic/Likely_pathogenic
8	99721045	C	T	C99721045T	VPS13B	NM_152564.5(VPS13B):c.7048C>T:p.Gln2350Ter	coding	Pathogenic/Likely_pathogenic
8	99721058	A	G	A99721058G	VPS13B	NM_152564.5(VPS13B):c.7050+11A>G	noncoding	Benign/Likely_benign
8	99766796	G	A	G99766796A	VPS13B	NM_152564.5(VPS13B):c.7073G>A:p.Trp2358Ter	coding	Pathogenic/Likely_pathogenic
8	99767217	A	G	A99767217G	VPS13B	NM_152564.5(VPS13B):c.7247+247A>G	noncoding	Benign
8	99776957	G	A	G99776957A	VPS13B	NM_152564.5(VPS13B):c.7429+1G>A	coding	Pathogenic/Likely_pathogenic
8	99778810	G	T	G99778810T	VPS13B	NM_152564.5(VPS13B):c.7558G>T:p.Glu2520Ter	coding	Pathogenic
8	99779004	A	G	A99779004G	VPS13B	NM_152564.5(VPS13B):c.7752A>G:p.Leu2584=	coding	Benign
8	99784454	G	A	G99784454A	VPS13B	NM_152564.5(VPS13B):c.7919G>A:p.Trp2640Ter	coding	Pathogenic
8	99809379	T	A	T99809379A	VPS13B	NM_152564.5(VPS13B):c.7946T>A:p.Leu2649Ter	coding	Pathogenic
8	99809401	G	A	G99809401A	VPS13B	NM_152564.5(VPS13B):c.7968G>A:p.Trp2656Ter	coding	Pathogenic
8	99809418	C	G	C99809418G	VPS13B	NM_152564.5(VPS13B):c.7985C>G:p.Ser2662Ter	coding	Pathogenic
8	99809477	C	T	C99809477T	VPS13B	NM_152564.5(VPS13B):c.8044C>T:p.Arg2682Ter	coding	Pathogenic/Likely_pathogenic
8	99817672	C	T	C99817672T	VPS13B	NM_152564.5(VPS13B):c.8230C>T:p.Gln2744Ter	coding	Pathogenic
8	99817783	G	T	G99817783T	VPS13B	NM_152564.5(VPS13B):c.8341G>T:p.Glu2781Ter	coding	Pathogenic
8	99818486	G	A	G99818486A	VPS13B	NM_152564.5(VPS13B):c.8397G>A:p.Trp2799Ter	coding	Pathogenic/Likely_pathogenic
8	99818526	C	T	C99818526T	VPS13B	NM_152564.5(VPS13B):c.8437C>T:p.Gln2813Ter	coding	Pathogenic
8	99818581	T	C	T99818581C	VPS13B	NM_152564.5(VPS13B):c.8445+47T>C	noncoding	Benign
8	99818827	C	T	C99818827T	VPS13B	NM_152564.5(VPS13B):c.8560C>T:p.Gln2854Ter	coding	Pathogenic
8	99819032	G	A	G99819032A	VPS13B	NM_152564.5(VPS13B):c.8621+144G>A	noncoding	Benign
8	99819066	T	A	T99819066A	VPS13B	NM_152564.5(VPS13B):c.8621+178T>A	noncoding	Benign
8	99819410	A	G	A99819410G	VPS13B	NM_152564.5(VPS13B):c.8622-2A>G	noncoding	Pathogenic
8	99819556	G	A	G99819556A	VPS13B	NM_152564.5(VPS13B):c.8766G>A:p.Trp2922Ter	coding	Pathogenic
8	99832370	A	T	A99832370T	VPS13B	NM_152564.5(VPS13B):c.9332A>T:p.Tyr3111Phe	coding	Benign
8	99832371	T	G	T99832371G	VPS13B	NM_152564.5(VPS13B):c.9333T>G:p.Tyr3111Ter	coding	Pathogenic
8	99832378	G	T	G99832378T	VPS13B	NM_152564.5(VPS13B):c.9340G>T:p.Val3114Phe	coding	Benign
8	99832563	G	A	G99832563A	VPS13B	NM_152564.5(VPS13B):c.9525G>A:p.Trp3175Ter	coding	Pathogenic
8	99832856	T	C	T99832856C	VPS13B	NM_152564.5(VPS13B):c.9614+204T>C	noncoding	Benign
8	99834866	C	T	C99834866T	VPS13B	NM_152564.5(VPS13B):c.9615-331C>T	noncoding	Benign
8	99835196	G	A	G99835196A	VPS13B	NM_152564.5(VPS13B):c.9615-1G>A	noncoding	Pathogenic
8	99835337	C	T	C99835337T	VPS13B	NM_152564.5(VPS13B):c.9742+13C>T	noncoding	Benign
8	99835701	G	A	G99835701A	VPS13B	NM_152564.5(VPS13B):c.9905G>A:p.Trp3302Ter	coding	Pathogenic
8	99853185	G	A	G99853185A	VPS13B	NM_152564.5(VPS13B):c.10062-266G>A	noncoding	Benign
8	99853537	C	G	C99853537G	VPS13B	NM_152564.5(VPS13B):c.10148C>G:p.Ser3383Ter	coding	Pathogenic
8	99854085	C	T	C99854085T	VPS13B	NM_152564.5(VPS13B):c.10696C>T:p.Gln3566Ter	coding	Pathogenic
8	99854312	G	A	G99854312A	VPS13B	NM_152564.5(VPS13B):c.10867+56G>A	noncoding	Benign
8	99861802	G	A	G99861802A	VPS13B	NM_152564.5(VPS13B):c.11071G>A:p.Ala3691Thr	coding	Benign/Likely_benign
8	99861855	C	G	C99861855G	VPS13B	NM_152564.5(VPS13B):c.11124C>G:p.Tyr3708Ter	coding	Pathogenic
8	99868287	A	G	A99868287G	VPS13B	NM_152564.5(VPS13B):c.11216-2A>G	noncoding	Pathogenic/Likely_pathogenic
8	99868676	G	A	G99868676A	VPS13B	NM_152564.5(VPS13B):c.11392+211G>A	noncoding	Benign
8	99870811	C	T	C99870811T	VPS13B	NM_152564.5(VPS13B):c.11419C>T:p.Gln3807Ter	coding	Pathogenic
8	99870906	G	A	G99870906A	VPS13B	NM_152564.5(VPS13B):c.11495+19G>A	noncoding	Benign
8	99871302	A	G	A99871302G	VPS13B	NM_152564.5(VPS13B):c.11496-146A>G	noncoding	Benign
8	99871496	C	T	C99871496T	VPS13B	NM_152564.5(VPS13B):c.11544C>T:p.Asp3848=	coding	Benign/Likely_benign
8	99875122	T	C	T99875122C	VPS13B	NM_152564.5(VPS13B):c.11746-296T>C	noncoding	Benign
8	99875417	G	A	G99875417A	VPS13B	NM_152564.5(VPS13B):c.11746-1G>A	noncoding	Pathogenic/Likely_pathogenic
8	99875430	C	T	C99875430T	VPS13B	NM_152564.5(VPS13B):c.11758C>T:p.Arg3920Ter	coding	Pathogenic/Likely_pathogenic
8	100133938	C	T	C100133938T	FBXO43	NM_001029860.4(FBXO43):c.1991G>A:p.Gly664Asp	coding	Pathogenic
8	100134292	G	A	G100134292A	FBXO43	NM_001029860.4(FBXO43):c.1747C>T:p.Gln583Ter	coding	Pathogenic
8	100166177	A	G	A100166177G	SPAG1	NM_003114.5(SPAG1):c.300+204A>G	noncoding	Benign
8	100183359	G	T	G100183359T	SPAG1	NM_003114.5(SPAG1):c.427-16G>T	noncoding	Benign
8	100184596	G	A	G100184596A	SPAG1	NM_003114.5(SPAG1):c.596-32G>A	noncoding	Benign
8	100184751	G	A	G100184751A	SPAG1	NM_003114.5(SPAG1):c.701+18G>A	noncoding	Benign
8	100186801	G	A	G100186801A	SPAG1	NM_003114.5(SPAG1):c.702-319G>A	noncoding	Benign
8	100187160	C	T	C100187160T	SPAG1	NM_003114.5(SPAG1):c.742C>T:p.Arg248Ter	coding	Pathogenic
8	100191370	T	C	T100191370C	SPAG1	NM_003114.5(SPAG1):c.833-20T>C	noncoding	Benign
8	100191826	T	C	T100191826C	SPAG1	NM_003114.5(SPAG1):c.939+330T>C	noncoding	Benign
8	100193927	C	T	C100193927T	SPAG1	NM_003114.5(SPAG1):c.940-185C>T	noncoding	Benign
8	100193947	T	G	T100193947G	SPAG1	NM_003114.5(SPAG1):c.940-165T>G	noncoding	Benign
8	100194229	A	G	A100194229G	SPAG1	NM_003114.5(SPAG1):c.1057A>G:p.Lys353Glu	coding	Benign/Likely_benign
8	100194303	G	A	G100194303A	SPAG1	NM_003114.5(SPAG1):c.1096+35G>A	noncoding	Benign
8	100194540	A	G	A100194540G	SPAG1	NM_003114.5(SPAG1):c.1096+272A>G	noncoding	Benign
8	100213444	C	T	C100213444T	SPAG1	NM_003114.5(SPAG1):c.1435+16C>T	noncoding	Benign
8	100213480	C	A	C100213480A	SPAG1	NM_003114.5(SPAG1):c.1435+52C>A	noncoding	Benign
8	100213610	C	G	C100213610G	SPAG1	NM_003114.5(SPAG1):c.1435+182C>G	noncoding	Benign
8	100213666	G	A	G100213666A	SPAG1	NM_003114.5(SPAG1):c.1436-153G>A	noncoding	Benign
8	100220171	G	A	G100220171A	SPAG1	NM_003114.5(SPAG1):c.1536-108G>A	noncoding	Benign
8	100220473	T	C	T100220473C	SPAG1	NM_003114.5(SPAG1):c.1688+42T>C	noncoding	Benign
8	100224884	T	G	T100224884G	SPAG1	NM_003114.5(SPAG1):c.1689-289T>G	noncoding	Benign
8	100225269	G	A	G100225269A	SPAG1	NM_003114.5(SPAG1):c.1785G>A:p.Trp595Ter	coding	Pathogenic
8	100231119	A	G	A100231119G	SPAG1	NM_003114.5(SPAG1):c.1856-37A>G	noncoding	Benign
8	100231465	G	A	G100231465A	SPAG1	NM_003114.5(SPAG1):c.1988+177G>A	noncoding	Benign
8	100233511	C	T	C100233511T	SPAG1	NM_003114.5(SPAG1):c.2089C>T:p.Arg697Ter	coding	Pathogenic
8	100240234	C	T	C100240234T	SPAG1	NM_003114.5(SPAG1):c.2281-169C>T	noncoding	Benign
8	100240651	C	T	C100240651T	SPAG1	NM_003114.5(SPAG1):c.2529C>T:p.Asn843=	coding	Benign
8	100241241	T	C	T100241241C	SPAG1	NM_003114.5(SPAG1):c.*219T>C	noncoding	Benign
8	100920726	G	A	G100920726A	YWHAZ	NM_145690.3(YWHAZ):c.705C>T:p.Asp235=	coding	Benign
8	100920763	A	G	A100920763G	YWHAZ	NM_145690.3(YWHAZ):c.679-11T>C	noncoding	Benign
8	100923937	A	C	A100923937C	YWHAZ	NM_145690.3(YWHAZ):c.678+18T>G	noncoding	Benign
8	100924055	G	A	G100924055A	YWHAZ	NM_145690.3(YWHAZ):c.583-5C>T	noncoding	Benign
8	100924115	G	T	G100924115T	YWHAZ	NM_145690.3(YWHAZ):c.582+20C>A	noncoding	Benign
8	100948629	C	T	C100948629T	YWHAZ	NM_145690.3(YWHAZ):c.261G>A:p.Glu87=	coding	Benign
8	101492283	G	A	G101492283A	GRHL2	Single_allele	noncoding	Benign
8	101492313	C	T	C101492313T	GRHL2	Single_allele	noncoding	Benign
8	101493463	C	G	C101493463G	GRHL2	NM_024915.4(GRHL2):c.20+674C>G	noncoding	Benign
8	101493477	A	G	A101493477G	GRHL2	NM_024915.4(GRHL2):c.20+688A>G	noncoding	Benign
8	101493561	C	T	C101493561T	GRHL2	NM_024915.4(GRHL2):c.20+772C>T	noncoding	Benign
8	101543073	A	G	A101543073G	GRHL2	NM_024915.4(GRHL2):c.21-168A>G	noncoding	Benign
8	101543529	G	A	G101543529A	GRHL2	NM_024915.4(GRHL2):c.216+93G>A	noncoding	Benign
8	101543665	G	A	G101543665A	GRHL2	NM_024915.4(GRHL2):c.216+229G>A	noncoding	Benign
8	101558171	T	G	T101558171G	GRHL2	NM_024915.4(GRHL2):c.285-248T>G	noncoding	Benign
8	101558251	T	G	T101558251G	GRHL2	NM_024915.4(GRHL2):c.285-168T>G	noncoding	Benign
8	101570647	A	C	A101570647C	GRHL2	NM_024915.4(GRHL2):c.734+253A>C	noncoding	Benign
8	101573578	G	A	G101573578A	GRHL2	NM_024915.4(GRHL2):c.735-90G>A	noncoding	Benign
8	101574121	A	G	A101574121G	GRHL2	NM_024915.4(GRHL2):c.891+297A>G	noncoding	Benign
8	101577711	C	T	C101577711T	GRHL2	NM_024915.4(GRHL2):c.1003+192C>T	noncoding	Benign
8	101631590	T	C	T101631590C	GRHL2	NM_024915.4(GRHL2):c.1258-47T>C	noncoding	Benign
8	101636689	A	C	A101636689C	GRHL2	NM_024915.4(GRHL2):c.1486-208A>C	noncoding	Benign
8	101636878	C	G	C101636878G	GRHL2	NM_024915.4(GRHL2):c.1486-19C>G	noncoding	Benign
8	101637076	C	T	C101637076T	GRHL2	NM_024915.4(GRHL2):c.1517+148C>T	noncoding	Benign
8	101637199	G	C	G101637199C	GRHL2	NM_024915.4(GRHL2):c.1517+271G>C	noncoding	Benign
8	101643901	G	T	G101643901T	GRHL2	NM_024915.4(GRHL2):c.1518-230G>T	noncoding	Benign
8	101644242	G	A	G101644242A	GRHL2	NM_024915.4(GRHL2):c.1612+17G>A	noncoding	Benign
8	101644417	C	T	C101644417T	GRHL2	NM_024915.4(GRHL2):c.1612+192C>T	noncoding	Benign
8	101649180	C	T	C101649180T	GRHL2	NM_024915.4(GRHL2):c.1613-234C>T	noncoding	Benign
8	101664714	C	T	C101664714T	GRHL2	NM_024915.4(GRHL2):c.1763+196C>T	noncoding	Benign
8	101666744	G	A	G101666744A	GRHL2	NM_024915.4(GRHL2):c.*41G>A	noncoding	Benign
8	101666988	C	T	C101666988T	GRHL2	NM_024915.4(GRHL2):c.*285C>T	noncoding	Benign
8	101666989	G	A	G101666989A	GRHL2	NM_024915.4(GRHL2):c.*286G>A	noncoding	Benign
8	102208533	A	C	A102208533C	RRM2B	NM_015713.5(RRM2B):c.904-248T>G	noncoding	Benign
8	102212995	A	C	A102212995C	RRM2B	NM_015713.5(RRM2B):c.790-106T>G	noncoding	Benign
8	102214178	T	A	T102214178A	RRM2B	NM_015713.5(RRM2B):c.685-20A>T	noncoding	Benign/Likely_benign
8	102218965	G	A	G102218965A	RRM2B	NM_015713.5(RRM2B):c.551-18C>T	noncoding	Benign/Likely_benign
8	102224045	C	T	C102224045T	RRM2B	NM_015713.5(RRM2B):c.550+1G>A	noncoding	Pathogenic
8	102224342	C	T	C102224342T	RRM2B	NM_015713.5(RRM2B):c.456-202G>A	noncoding	Benign
8	102225700	C	T	C102225700T	RRM2B	NM_015713.5(RRM2B):c.321+218G>A	noncoding	Benign
8	102226369	T	C	T102226369C	RRM2B	NM_015713.5(RRM2B):c.205-335A>G	noncoding	Benign
8	102232329	G	A	G102232329A	RRM2B	NM_015713.5(RRM2B):c.49-25C>T	noncoding	Benign
8	102232371	A	C	A102232371C	RRM2B	NM_015713.5(RRM2B):c.49-67T>G	noncoding	Benign
8	102238547	G	C	G102238547C	RRM2B	NM_015713.5(RRM2B):c.48+280C>G	noncoding	Benign
8	102238554	C	A	C102238554A	RRM2B	NM_015713.5(RRM2B):c.48+273G>T	noncoding	Benign/Likely_benign
8	102238702	C	T	C102238702T	RRM2B	NM_015713.5(RRM2B):c.48+125G>A	coding	Benign
8	102238709	G	A	G102238709A	RRM2B	NM_015713.5(RRM2B):c.48+118C>T	coding	Benign
8	102238779	G	A	G102238779A	RRM2B	NM_015713.5(RRM2B):c.48+48C>T	coding	Benign
8	102239257	A	C	A102239257C	RRM2B	Single_allele	noncoding	Benign
8	102239278	A	T	A102239278T	RRM2B	Single_allele	noncoding	Benign
8	102295206	G	A	G102295206A	UBR5	NM_015902.6(UBR5):c.4056C>T:p.Asp1352=	coding	Benign
8	102649965	G	A	G102649965A	KLF10	NM_005655.4(KLF10):c.*167C>T	noncoding	Benign
8	102649991	G	A	G102649991A	KLF10	NM_005655.4(KLF10):c.*141C>T	noncoding	Benign
8	102650408	C	A	C102650408A	KLF10	NM_005655.4(KLF10):c.1184-17G>T	noncoding	Benign
8	102650624	T	C	T102650624C	KLF10	NM_005655.4(KLF10):c.1184-233A>G	noncoding	Benign
8	102651156	C	G	C102651156G	KLF10	NM_005655.4(KLF10):c.1176G>C:p.Thr392=	coding	Benign
8	102651162	C	T	C102651162T	KLF10	NM_005655.4(KLF10):c.1170G>A:p.Thr390=	coding	Benign
8	102651324	C	T	C102651324T	KLF10	NM_005655.4(KLF10):c.1008G>A:p.Pro336=	coding	Benign
8	102651513	G	A	G102651513A	KLF10	NM_005655.4(KLF10):c.819C>T:p.Ile273=	coding	Benign
8	102651586	G	A	G102651586A	KLF10	NM_005655.4(KLF10):c.746C>T:p.Ser249Phe	coding	Benign
8	102651684	T	G	T102651684G	KLF10	NM_005655.4(KLF10):c.648A>C:p.Thr216=	coding	Benign
8	102651766	G	C	G102651766C	KLF10	NM_005655.4(KLF10):c.566C>G:p.Thr189Ser	coding	Benign
8	102651775	C	A	C102651775A	KLF10	NM_005655.4(KLF10):c.557G>T:p.Arg186Ile	coding	Benign
8	102653285	C	T	C102653285T	KLF10	NM_005655.4(KLF10):c.37-888G>A	noncoding	Benign
8	102653743	G	A	G102653743A	KLF10	NM_005655.4(KLF10):c.37-1346C>T	coding	Benign
8	102653944	T	G	T102653944G	KLF10	NM_005655.4(KLF10):c.37-1547A>C	coding	Benign
8	102653990	A	T	A102653990T	KLF10	NM_005655.4(KLF10):c.36+1576T>A	noncoding	Benign
8	102654111	G	C	G102654111C	KLF10	NM_005655.4(KLF10):c.36+1455C>G	noncoding	Benign
8	102655384	G	C	G102655384C	KLF10	NM_005655.4(KLF10):c.36+182C>G	noncoding	Benign
8	102655553	C	T	C102655553T	KLF10	NM_005655.4(KLF10):c.36+13G>A	noncoding	Benign
8	102656036	G	A	G102656036A	KLF10	Single_allele	noncoding	Benign
8	102656092	A	G	A102656092G	KLF10	Single_allele	noncoding	Benign
8	103300204	A	G	A103300204G	FZD6	NM_003506.4(FZD6):c.97A>G:p.Met33Val	coding	Benign
8	103400160	C	A	C103400160A	SLC25A32	NM_030780.5(SLC25A32):c.*251G>T	noncoding	Benign
8	103400289	A	T	A103400289T	SLC25A32	NM_030780.5(SLC25A32):c.*122T>A	noncoding	Benign
8	103400533	C	T	C103400533T	SLC25A32	NM_030780.5(SLC25A32):c.826G>A:p.Gly276Ser	coding	Benign
8	103400602	C	T	C103400602T	SLC25A32	NM_030780.5(SLC25A32):c.813-56G>A	noncoding	Benign
8	103400707	C	T	C103400707T	SLC25A32	NM_030780.5(SLC25A32):c.813-161G>A	noncoding	Benign
8	103401273	C	T	C103401273T	SLC25A32	NM_030780.5(SLC25A32):c.812+243G>A	noncoding	Benign
8	103401496	G	T	G103401496T	SLC25A32	NM_030780.5(SLC25A32):c.812+20C>A	noncoding	Benign/Likely_benign
8	103401506	G	T	G103401506T	SLC25A32	NM_030780.5(SLC25A32):c.812+10C>A	noncoding	Benign
8	103402061	G	A	G103402061A	SLC25A32	NM_030780.5(SLC25A32):c.553-7C>T	noncoding	Benign
8	103402067	G	T	G103402067T	SLC25A32	NM_030780.5(SLC25A32):c.553-13C>A	noncoding	Benign
8	103402110	T	C	T103402110C	SLC25A32	NM_030780.5(SLC25A32):c.553-56A>G	noncoding	Benign
8	103402365	A	G	A103402365G	SLC25A32	NM_030780.5(SLC25A32):c.553-311T>C	noncoding	Benign
8	103402890	C	T	C103402890T	SLC25A32	NM_030780.5(SLC25A32):c.552+274G>A	noncoding	Benign
8	103404817	C	T	C103404817T	SLC25A32	NM_030780.5(SLC25A32):c.350G>A:p.Arg117His	coding	Benign
8	103405122	A	G	A103405122G	SLC25A32	NM_030780.5(SLC25A32):c.306-261T>C	noncoding	Benign
8	103407872	T	C	T103407872C	SLC25A32	NM_030780.5(SLC25A32):c.155-88A>G	noncoding	Benign
8	103407881	T	C	T103407881C	SLC25A32	NM_030780.5(SLC25A32):c.155-97A>G	noncoding	Benign
8	103414570	A	C	A103414570C	SLC25A32	NM_030780.5(SLC25A32):c.154+214T>G	noncoding	Benign
8	103414682	T	C	T103414682C	SLC25A32	NM_030780.5(SLC25A32):c.154+102A>G	noncoding	Benign
8	103415131	A	C	A103415131C	DCAF13	Single_allele	coding	Benign
8	103415313	C	T	C103415313T	SLC25A32	Single_allele	coding	Benign
8	103415350	T	C	T103415350C	SLC25A32	Single_allele	coding	Benign
8	104354893	A	G	A104354893G	DCSTAMP	NM_030788.4(DCSTAMP):c.1046A>G:p.Asp349Gly	coding	Benign
8	104381290	G	A	G104381290A	DPYS	NM_001385.3(DPYS):c.1468C>T:p.Arg490Cys	coding	Pathogenic
8	104424265	C	T	C104424265T	DPYS	NM_001385.3(DPYS):c.1217G>A:p.Trp406Ter	coding	Pathogenic
8	104428070	C	T	C104428070T	DPYS	NM_001385.3(DPYS):c.1002G>A:p.Gln334=	coding	Benign
8	104447359	G	A	G104447359A	DPYS	NM_001385.3(DPYS):c.568C>T:p.Gln190Ter	coding	Pathogenic
8	104466855	C	T	C104466855T	DPYS	NM_001385.3(DPYS):c.66G>A:p.Val22=	coding	Benign
8	104588948	A	G	A104588948G	LRP12	NM_013437.5(LRP12):c.-51T>C	noncoding	Benign
8	105318993	C	G	C105318993G	ZFPM2	NM_012082.4(ZFPM2):c.40+12C>G	noncoding	Benign
8	105444272	T	G	T105444272G	ZFPM2	NM_012082.4(ZFPM2):c.200-8T>G	noncoding	Benign
8	105444338	A	G	A105444338G	ZFPM2	NM_012082.4(ZFPM2):c.258A>G:p.Lys86=	coding	Benign
8	105444455	A	G	A105444455G	ZFPM2	NM_012082.4(ZFPM2):c.301+74A>G	noncoding	Benign
8	105561410	C	T	C105561410T	ZFPM2	NM_012082.4(ZFPM2):c.349C>T:p.Arg117Ter	coding	Pathogenic
8	105561691	C	T	C105561691T	ZFPM2	NM_012082.4(ZFPM2):c.420+210C>T	noncoding	Benign
8	105634241	T	C	T105634241C	ZFPM2	NM_012082.4(ZFPM2):c.421-5T>C	noncoding	Benign
8	105634455	A	T	A105634455T	ZFPM2	NM_012082.4(ZFPM2):c.532+98A>T	noncoding	Benign
8	105662584	T	C	T105662584C	ZFPM2	NM_012082.4(ZFPM2):c.532+28227T>C	noncoding	Benign
8	105788943	G	A	G105788943A	ZFPM2	NM_012082.4(ZFPM2):c.739+19G>A	noncoding	Benign
8	105798915	C	T	C105798915T	ZFPM2	NM_012082.4(ZFPM2):c.931C>T:p.Arg311Ter	coding	Pathogenic
8	105799027	G	A	G105799027A	ZFPM2	NM_012082.4(ZFPM2):c.964+79G>A	noncoding	Benign
8	105799254	A	G	A105799254G	ZFPM2	NM_012082.4(ZFPM2):c.964+306A>G	noncoding	Benign
8	105801036	T	C	T105801036C	ZFPM2	NM_012082.4(ZFPM2):c.965-11T>C	noncoding	Benign
8	105802512	A	T	A105802512T	ZFPM2	NM_012082.4(ZFPM2):c.2430A>T:p.Pro810=	coding	Benign/Likely_benign
8	106742245	G	A	G106742245A	OXR1	NM_001198533.2(OXR1):c.2340G>A:p.Glu780=	coding	Benign
8	107252045	A	G	A107252045G	ANGPT1	NM_001146.5(ANGPT1):c.1337-30T>C	noncoding	Benign
8	107293732	G	A	G107293732A	ANGPT1	NM_001146.5(ANGPT1):c.1038+204C>T	noncoding	Benign
8	107293927	G	C	G107293927C	ANGPT1	NM_001146.5(ANGPT1):c.1038+9C>G	noncoding	Benign
8	107294139	T	C	T107294139C	ANGPT1	NM_001146.5(ANGPT1):c.937-102A>G	noncoding	Benign
8	107294259	A	G	A107294259G	ANGPT1	NM_001146.5(ANGPT1):c.937-222T>C	noncoding	Benign
8	107294275	C	A	C107294275A	ANGPT1	NM_001146.5(ANGPT1):c.937-238G>T	noncoding	Benign
8	107303049	T	G	T107303049G	ANGPT1	NM_001146.5(ANGPT1):c.936+191A>C	noncoding	Benign
8	107303234	T	C	T107303234C	ANGPT1	NM_001146.5(ANGPT1):c.936+6A>G	noncoding	Benign
8	107321878	T	C	T107321878C	ANGPT1	NM_001146.5(ANGPT1):c.808+18A>G	noncoding	Benign
8	107321934	G	T	G107321934T	ANGPT1	NM_001146.5(ANGPT1):c.770C>A:p.Thr257Lys	coding	Benign
8	107322141	G	T	G107322141T	ANGPT1	NM_001146.5(ANGPT1):c.576-13C>A	noncoding	Benign
8	107346798	G	A	G107346798A	ANGPT1	NM_001146.5(ANGPT1):c.453+144C>T	noncoding	Benign
8	107346820	A	G	A107346820G	ANGPT1	NM_001146.5(ANGPT1):c.453+122T>C	noncoding	Benign
8	107497104	C	G	C107497104G	ANGPT1	NM_001146.5(ANGPT1):c.297+158G>C	noncoding	Benign
8	107958139	A	G	A107958139G	RSPO2	NM_178565.5(RSPO2):c.557T>C:p.Leu186Pro	coding	Benign
8	107988970	T	A	T107988970A	RSPO2	NM_178565.5(RSPO2):c.283+86A>T	noncoding	Benign
8	107989398	T	G	T107989398G	RSPO2	NM_178565.5(RSPO2):c.95-154A>C	noncoding	Benign
8	108082519	C	T	C108082519T	RSPO2	NM_178565.5(RSPO2):c.94+26G>A	noncoding	Benign
8	108082776	T	C	T108082776C	RSPO2	NM_178565.5(RSPO2):c.-138A>G	noncoding	Benign
8	115414426	T	C	T115414426C	TRPS1	NM_014112.5(TRPS1):c.3482A>G:p.Asn1161Ser	coding	Benign
8	115414893	G	C	G115414893C	TRPS1	NM_014112.5(TRPS1):c.3015C>G:p.His1005Gln	coding	Benign
8	115418427	C	T	C115418427T	TRPS1	NM_014112.5(TRPS1):c.2726G>A:p.Cys909Tyr	coding	Pathogenic
8	115418453	C	T	C115418453T	TRPS1	NM_014112.5(TRPS1):c.2701-1G>A	coding	Pathogenic
8	115418465	A	G	A115418465G	TRPS1	NM_014112.5(TRPS1):c.2701-13T>C	noncoding	Benign
8	115418633	C	A	C115418633A	TRPS1	NM_014112.5(TRPS1):c.2701-181G>T	noncoding	Benign
8	115587044	G	T	G115587044T	TRPS1	NM_014112.5(TRPS1):c.2657C>A:p.Ser886Ter	coding	Pathogenic
8	115587199	T	C	T115587199C	TRPS1	NM_014112.5(TRPS1):c.2502A>G:p.Gln834=	coding	Benign
8	115587248	G	T	G115587248T	TRPS1	NM_014112.5(TRPS1):c.2453C>A:p.Ser818Ter	coding	Pathogenic
8	115587260	C	A	C115587260A	TRPS1	NM_014112.5(TRPS1):c.2441G>T:p.Arg814Leu	coding	Benign/Likely_benign
8	115587507	G	A	G115587507A	TRPS1	NM_014112.5(TRPS1):c.2194C>T:p.Gln732Ter	coding	Pathogenic
8	115587513	G	A	G115587513A	TRPS1	NM_014112.5(TRPS1):c.2188C>T:p.Gln730Ter	coding	Pathogenic
8	115587549	G	A	G115587549A	TRPS1	NM_014112.5(TRPS1):c.2152C>T:p.Gln718Ter	coding	Pathogenic
8	115587781	T	C	T115587781C	TRPS1	NM_014112.5(TRPS1):c.2097-177A>G	noncoding	Benign
8	115604100	C	T	C115604100T	TRPS1	NM_014112.5(TRPS1):c.1869G>A:p.Ser623=	coding	Benign
8	115604192	C	A	C115604192A	TRPS1	NM_014112.5(TRPS1):c.1777G>T:p.Glu593Ter	coding	Pathogenic
8	115604279	G	A	G115604279A	TRPS1	NM_014112.5(TRPS1):c.1690C>T:p.Gln564Ter	coding	Pathogenic
8	115604425	G	A	G115604425A	TRPS1	NM_014112.5(TRPS1):c.1544C>T:p.Ser515Leu	coding	Benign
8	115604513	C	T	C115604513T	TRPS1	NM_014112.5(TRPS1):c.1456G>A:p.Asp486Asn	coding	Benign
8	115604582	T	A	T115604582A	TRPS1	NM_014112.5(TRPS1):c.1387A>T:p.Lys463Ter	coding	Pathogenic
8	115604587	G	C	G115604587C	TRPS1	NM_014112.5(TRPS1):c.1382C>G:p.Ser461Ter	coding	Pathogenic
8	115604806	G	C	G115604806C	TRPS1	NM_014112.5(TRPS1):c.1163C>G:p.Ser388Ter	coding	Pathogenic
8	115605016	G	A	G115605016A	TRPS1	NM_014112.5(TRPS1):c.967-14C>T	noncoding	Benign
8	115605084	C	T	C115605084T	TRPS1	NM_014112.5(TRPS1):c.967-82G>A	noncoding	Benign
8	115605132	A	G	A115605132G	TRPS1	NM_014112.5(TRPS1):c.967-130T>C	noncoding	Benign
8	115605187	T	C	T115605187C	TRPS1	NM_014112.5(TRPS1):c.967-185A>G	noncoding	Benign
8	115619051	T	C	T115619051C	TRPS1	NM_014112.5(TRPS1):c.966+81A>G	noncoding	Benign
8	115619134	G	A	G115619134A	TRPS1	NM_014112.5(TRPS1):c.964C>T:p.Gln322Ter	coding	Pathogenic
8	115619185	G	A	G115619185A	TRPS1	NM_014112.5(TRPS1):c.913C>T:p.Gln305Ter	coding	Pathogenic
8	115619329	G	A	G115619329A	TRPS1	NM_014112.5(TRPS1):c.769C>T:p.Arg257Ter	coding	Pathogenic
8	115619556	T	C	T115619556C	TRPS1	NM_014112.5(TRPS1):c.542A>G:p.Gln181Arg	coding	Benign
8	115620149	T	C	T115620149C	TRPS1	NM_014112.5(TRPS1):c.38-89A>G	noncoding	Benign
8	115623384	C	T	C115623384T	TRPS1	NM_014112.5(TRPS1):c.37+217G>A	noncoding	Benign
8	115623461	G	A	G115623461A	TRPS1	NM_014112.5(TRPS1):c.37+140C>T	noncoding	Benign
8	115623715	C	T	C115623715T	TRPS1	NM_014112.5(TRPS1):c.-78G>A	coding	Benign
8	115624054	A	C	A115624054C	TRPS1	NM_014112.5(TRPS1):c.-121-296T>G	noncoding	Benign
8	116771736	C	T	C116771736T	UTP23	NM_032334.3(UTP23):c.644C>T:p.Pro215Leu	coding	Benign
8	116850472	C	T	C116850472T	RAD21	NM_006265.3(RAD21):c.1620+146G>A	noncoding	Benign
8	116850896	C	T	C116850896T	RAD21	NM_006265.3(RAD21):c.1471-129G>A	noncoding	Benign
8	116851095	T	A	T116851095A	RAD21	NM_006265.3(RAD21):c.1471-328A>T	noncoding	Benign
8	116852312	T	C	T116852312C	RAD21	NM_006265.3(RAD21):c.1322-216A>G	noncoding	Benign
8	116852369	A	C	A116852369C	RAD21	NM_006265.3(RAD21):c.1321+180T>G	noncoding	Benign
8	116852514	G	A	G116852514A	RAD21	NM_006265.3(RAD21):c.1321+35C>T	noncoding	Benign
8	116852753	C	A	C116852753A	RAD21	NM_006265.3(RAD21):c.1162-45G>T	noncoding	Benign
8	116854662	G	A	G116854662A	RAD21	NM_006265.3(RAD21):c.938-194C>T	noncoding	Benign
8	116856024	G	C	G116856024C	RAD21	NM_006265.3(RAD21):c.937+142C>G	noncoding	Benign
8	116856067	A	C	A116856067C	RAD21	NM_006265.3(RAD21):c.937+99T>G	noncoding	Benign
8	116856988	C	T	C116856988T	RAD21	NM_006265.3(RAD21):c.689-217G>A	noncoding	Benign
8	116858113	G	A	G116858113A	RAD21	NM_006265.3(RAD21):c.481+239C>T	noncoding	Benign
8	116858244	C	T	C116858244T	RAD21	NM_006265.3(RAD21):c.481+108G>A	noncoding	Benign
8	116858365	T	C	T116858365C	RAD21	NM_006265.3(RAD21):c.468A>G:p.Gln156=	coding	Benign
8	116861572	G	A	G116861572A	RAD21	NM_006265.3(RAD21):c.374+269C>T	noncoding	Benign
8	116862981	A	G	A116862981G	RAD21	NM_006265.3(RAD21):c.274+149T>C	noncoding	Benign
8	116863022	A	T	A116863022T	RAD21	NM_006265.3(RAD21):c.274+108T>A	noncoding	Benign
8	116863318	C	T	C116863318T	RAD21	NM_006265.3(RAD21):c.145-59G>A	noncoding	Benign
8	116866399	T	A	T116866399A	RAD21	NM_006265.3(RAD21):c.144+187A>T	noncoding	Benign
8	116867092	A	G	A116867092G	RAD21	NM_006265.3(RAD21):c.-32-331T>C	noncoding	Benign
8	117799853	C	T	C117799853T	EXT1	NM_000127.3(EXT1):c.2100G>A:p.Gln700=	coding	Benign
8	117804875	G	C	G117804875C	EXT1	NM_000127.3(EXT1):c.1902C>G:p.Tyr634Ter	coding	Pathogenic
8	117807218	T	A	T117807218A	EXT1	NM_000127.3(EXT1):c.1882A>T:p.Lys628Ter	coding	Pathogenic
8	117807264	C	T	C117807264T	EXT1	NM_000127.3(EXT1):c.1836G>A:p.Trp612Ter	coding	Pathogenic
8	117807271	G	T	G117807271T	EXT1	NM_000127.3(EXT1):c.1829C>A:p.Ser610Ter	coding	Pathogenic
8	117807480	G	C	G117807480C	EXT1	NM_000127.3(EXT1):c.1723-103C>G	noncoding	Benign
8	117812670	A	G	A117812670G	EXT1	NM_000127.3(EXT1):c.1722+202T>C	noncoding	Benign
8	117812935	G	C	G117812935C	EXT1	NM_000127.3(EXT1):c.1659C>G:p.Tyr553Ter	coding	Pathogenic
8	117813115	C	T	C117813115T	EXT1	NM_000127.3(EXT1):c.1633-154G>A	noncoding	Benign
8	117818443	C	A	C117818443A	EXT1	NM_000127.3(EXT1):c.1624G>T:p.Glu542Ter	coding	Pathogenic
8	117818531	C	G	C117818531G	EXT1	NM_000127.3(EXT1):c.1537-1G>C	coding	Pathogenic
8	117818581	T	C	T117818581C	EXT1	NM_000127.3(EXT1):c.1537-51A>G	noncoding	Benign
8	117818655	C	T	C117818655T	EXT1	NM_000127.3(EXT1):c.1537-125G>A	noncoding	Benign
8	117818753	T	C	T117818753C	EXT1	NM_000127.3(EXT1):c.1537-223A>G	noncoding	Benign
8	117819415	T	C	T117819415C	EXT1	NM_000127.3(EXT1):c.1536+261A>G	noncoding	Benign
8	117819675	C	G	C117819675G	EXT1	NM_000127.3(EXT1):c.1536+1G>C	noncoding	Pathogenic
8	117819675	C	T	C117819675T	EXT1	NM_000127.3(EXT1):c.1536+1G>A	noncoding	Pathogenic
8	117819690	G	A	G117819690A	EXT1	NM_000127.3(EXT1):c.1522C>T:p.Gln508Ter	coding	Pathogenic
8	117819795	C	T	C117819795T	EXT1	NM_000127.3(EXT1):c.1418-1G>A	coding	Pathogenic
8	117822245	A	C	A117822245C	EXT1	NM_000127.3(EXT1):c.1417+220T>G	noncoding	Benign
8	117822577	G	T	G117822577T	EXT1	NM_000127.3(EXT1):c.1305C>A:p.Phe435Leu	coding	Benign
8	117822713	C	T	C117822713T	EXT1	NM_000127.3(EXT1):c.1285-116G>A	noncoding	Benign
8	117822898	G	A	G117822898A	EXT1	NM_000127.3(EXT1):c.1285-301C>T	noncoding	Benign
8	117829945	G	A	G117829945A	EXT1	NM_000127.3(EXT1):c.1284+285C>T	noncoding	Benign
8	117830505	C	A	C117830505A	EXT1	NM_000127.3(EXT1):c.1165-156G>T	noncoding	Benign
8	117835443	C	T	C117835443T	EXT1	NM_000127.3(EXT1):c.1164+1G>A	noncoding	Pathogenic
8	117835446	G	A	G117835446A	EXT1	NM_000127.3(EXT1):c.1162C>T:p.Gln388Ter	coding	Pathogenic
8	117835451	A	C	A117835451C	EXT1	NM_000127.3(EXT1):c.1157T>G:p.Leu386Ter	coding	Pathogenic
8	117835486	C	T	C117835486T	EXT1	NM_000127.3(EXT1):c.1122G>A:p.Trp374Ter	coding	Pathogenic
8	117835544	C	T	C117835544T	EXT1	NM_000127.3(EXT1):c.1064G>A:p.Cys355Tyr	coding	Pathogenic
8	117835545	A	G	A117835545G	EXT1	NM_000127.3(EXT1):c.1063T>C:p.Cys355Arg	coding	Pathogenic
8	117836907	T	C	T117836907C	EXT1	NM_000127.3(EXT1):c.1056+201A>G	noncoding	Benign
8	117837137	C	T	C117837137T	EXT1	NM_000127.3(EXT1):c.1027G>A:p.Gly343Arg	coding	Pathogenic/Likely_pathogenic
8	118109798	T	C	T118109798C	EXT1	NM_000127.3(EXT1):c.962+287A>G	noncoding	Benign
8	118110138	G	C	G118110138C	EXT1	NM_000127.3(EXT1):c.909C>G:p.Asp303Glu	coding	Benign
8	118110244	C	A	C118110244A	EXT1	NM_000127.3(EXT1):c.803G>T:p.Gly268Val	coding	Pathogenic
8	118110244	C	T	C118110244T	EXT1	NM_000127.3(EXT1):c.803G>A:p.Gly268Glu	coding	Pathogenic/Likely_pathogenic
8	118110256	A	C	A118110256C	EXT1	NM_000127.3(EXT1):c.791T>G:p.Leu264Arg	coding	Pathogenic
8	118110410	G	A	G118110410A	EXT1	NM_000127.3(EXT1):c.637C>T:p.Gln213Ter	coding	Pathogenic
8	118110434	C	A	C118110434A	EXT1	NM_000127.3(EXT1):c.613G>T:p.Glu205Ter	coding	Pathogenic
8	118110447	C	T	C118110447T	EXT1	NM_000127.3(EXT1):c.600G>A:p.Trp200Ter	coding	Pathogenic
8	118110454	C	A	C118110454A	EXT1	NM_000127.3(EXT1):c.593G>T:p.Gly198Val	coding	Pathogenic
8	118110654	G	C	G118110654C	EXT1	NM_000127.3(EXT1):c.393C>G:p.Tyr131Ter	coding	Pathogenic
8	118110654	G	T	G118110654T	EXT1	NM_000127.3(EXT1):c.393C>A:p.Tyr131Ter	coding	Pathogenic
8	118110686	G	A	G118110686A	EXT1	NM_000127.3(EXT1):c.361C>T:p.Gln121Ter	coding	Pathogenic
8	118110844	C	T	C118110844T	EXT1	NM_000127.3(EXT1):c.203G>A:p.Trp68Ter	coding	Pathogenic
8	118112051	C	T	C118112051T	EXT1	Single_allele	noncoding	Benign
8	118924375	T	A	T118924375A	TNFRSF11B	NM_002546.4(TNFRSF11B):c.1205A>T:p.Ter402Leu	coding	Pathogenic
8	118926612	G	A	G118926612A	TNFRSF11B	NM_002546.4(TNFRSF11B):c.699C>T:p.Asn233=	coding	Benign
8	118929038	A	G	A118929038G	TNFRSF11B	NM_002546.4(TNFRSF11B):c.401-109T>C	noncoding	Benign
8	119732053	C	T	C119732053T	TAF2	NM_003184.4(TAF2):c.3471G>A:p.Lys1157=	coding	Benign
8	119732109	T	C	T119732109C	TAF2	NM_003184.4(TAF2):c.3415A>G:p.Thr1139Ala	coding	Benign
8	119732159	C	T	C119732159T	TAF2	NM_003184.4(TAF2):c.3365G>A:p.Ser1122Asn	coding	Benign
8	119762593	A	T	A119762593T	TAF2	NM_003184.4(TAF2):c.2380T>A:p.Tyr794Asn	coding	Pathogenic/Likely_pathogenic
8	119778064	T	C	T119778064C	TAF2	NM_003184.4(TAF2):c.2319A>G:p.Thr773=	coding	Benign
8	119781056	C	T	C119781056T	TAF2	NM_003184.4(TAF2):c.2250G>A:p.Gln750=	coding	Benign
8	119783367	G	A	G119783367A	TAF2	NM_003184.4(TAF2):c.2112+14C>T	noncoding	Benign
8	119788464	G	A	G119788464A	TAF2	NM_003184.4(TAF2):c.1684-17C>T	noncoding	Benign
8	119789565	C	T	C119789565T	TAF2	NM_003184.4(TAF2):c.1568+27G>A	noncoding	Benign
8	119791397	C	G	C119791397G	TAF2	NM_003184.4(TAF2):c.1340G>C:p.Ser447Thr	coding	Benign
8	119791414	C	T	C119791414T	TAF2	NM_003184.4(TAF2):c.1323G>A:p.Leu441=	coding	Benign
8	119793381	C	T	C119793381T	TAF2	NM_003184.4(TAF2):c.1262G>A:p.Gly421Glu	coding	Benign
8	119793470	T	C	T119793470C	TAF2	NM_003184.4(TAF2):c.1192-19A>G	noncoding	Benign
8	119801780	A	G	A119801780G	TAF2	NM_003184.4(TAF2):c.792+14T>C	noncoding	Benign
8	119801932	G	A	G119801932A	TAF2	NM_003184.4(TAF2):c.654C>T:p.Gly218=	coding	Benign
8	119806243	G	A	G119806243A	TAF2	NM_003184.4(TAF2):c.418+40C>T	noncoding	Benign
8	119832542	G	A	G119832542A	TAF2	NM_003184.4(TAF2):c.23C>T:p.Pro8Leu	coding	Benign
8	120147628	C	T	C120147628T	COL14A1	NM_021110.4(COL14A1):c.-37-178C>T	noncoding	Benign
8	120157961	G	T	G120157961T	COL14A1	NM_021110.4(COL14A1):c.89-169G>T	noncoding	Benign
8	120158564	G	A	G120158564A	COL14A1	NM_021110.4(COL14A1):c.205+318G>A	noncoding	Benign
8	120162598	C	G	C120162598G	COL14A1	NM_021110.4(COL14A1):c.349+29C>G	noncoding	Benign
8	120168425	G	A	G120168425A	COL14A1	NM_021110.4(COL14A1):c.436+178G>A	noncoding	Benign
8	120168428	C	T	C120168428T	COL14A1	NM_021110.4(COL14A1):c.436+181C>T	noncoding	Benign
8	120196761	A	C	A120196761C	COL14A1	NM_021110.4(COL14A1):c.437-30A>C	noncoding	Benign
8	120197152	C	T	C120197152T	COL14A1	NM_021110.4(COL14A1):c.592+206C>T	noncoding	Benign
8	120197830	T	C	T120197830C	COL14A1	NM_021110.4(COL14A1):c.612T>C:p.Gly204=	coding	Benign
8	120198011	C	T	C120198011T	COL14A1	NM_021110.4(COL14A1):c.712+81C>T	noncoding	Benign
8	120199330	G	A	G120199330A	COL14A1	NM_021110.4(COL14A1):c.713-72G>A	noncoding	Benign
8	120199608	C	T	C120199608T	COL14A1	NM_021110.4(COL14A1):c.877+42C>T	noncoding	Benign
8	120203752	T	C	T120203752C	COL14A1	NM_021110.4(COL14A1):c.921T>C:p.Ser307=	coding	Benign
8	120206728	T	C	T120206728C	COL14A1	NM_021110.4(COL14A1):c.1040-215T>C	noncoding	Benign
8	120207358	A	T	A120207358T	COL14A1	NM_021110.4(COL14A1):c.1191+264A>T	noncoding	Benign
8	120208156	G	A	G120208156A	COL14A1	NM_021110.4(COL14A1):c.1192-76G>A	noncoding	Benign
8	120209632	C	G	C120209632G	COL14A1	NM_021110.4(COL14A1):c.1322-124C>G	noncoding	Benign
8	120216440	A	C	A120216440C	COL14A1	NM_021110.4(COL14A1):c.1687A>C:p.Asn563His	coding	Benign
8	120216784	T	G	T120216784G	COL14A1	NM_021110.4(COL14A1):c.1737+294T>G	noncoding	Benign
8	120226307	T	A	T120226307A	COL14A1	NM_021110.4(COL14A1):c.1865-320T>A	noncoding	Benign
8	120228407	G	A	G120228407A	COL14A1	NM_021110.4(COL14A1):c.2138-303G>A	noncoding	Benign
8	120228573	G	A	G120228573A	COL14A1	NM_021110.4(COL14A1):c.2138-137G>A	noncoding	Benign
8	120231827	C	T	C120231827T	COL14A1	NM_021110.4(COL14A1):c.2349+209C>T	noncoding	Benign
8	120231850	G	T	G120231850T	COL14A1	NM_021110.4(COL14A1):c.2349+232G>T	noncoding	Benign
8	120243911	T	C	T120243911C	COL14A1	NM_021110.4(COL14A1):c.2382T>C:p.Leu794=	coding	Benign
8	120247604	T	C	T120247604C	COL14A1	NM_021110.4(COL14A1):c.2480-9T>C	noncoding	Benign
8	120247623	G	A	G120247623A	COL14A1	NM_021110.4(COL14A1):c.2490G>A:p.Ser830=	coding	Benign
8	120247781	T	G	T120247781G	COL14A1	NM_021110.4(COL14A1):c.2602+46T>G	noncoding	Benign
8	120250536	A	G	A120250536G	COL14A1	NM_021110.4(COL14A1):c.2603-81A>G	noncoding	Benign
8	120250837	T	C	T120250837C	COL14A1	NM_021110.4(COL14A1):c.2752+71T>C	noncoding	Benign
8	120250886	A	C	A120250886C	COL14A1	NM_021110.4(COL14A1):c.2752+120A>C	noncoding	Benign
8	120250893	C	T	C120250893T	COL14A1	NM_021110.4(COL14A1):c.2752+127C>T	noncoding	Benign
8	120255378	C	T	C120255378T	COL14A1	NM_021110.4(COL14A1):c.2869+22C>T	noncoding	Benign
8	120255490	A	G	A120255490G	COL14A1	NM_021110.4(COL14A1):c.2869+134A>G	noncoding	Benign
8	120255497	A	G	A120255497G	COL14A1	NM_021110.4(COL14A1):c.2869+141A>G	noncoding	Benign
8	120262612	A	C	A120262612C	COL14A1	NM_021110.4(COL14A1):c.2870-256A>C	noncoding	Benign
8	120266542	A	G	A120266542G	COL14A1	NM_021110.4(COL14A1):c.3017-285A>G	noncoding	Benign
8	120278334	T	A	T120278334A	COL14A1	NM_021110.4(COL14A1):c.3337+100T>A	noncoding	Benign
8	120278673	G	A	G120278673A	COL14A1	NM_021110.4(COL14A1):c.3481+95G>A	noncoding	Benign
8	120280168	G	A	G120280168A	COL14A1	NM_021110.4(COL14A1):c.3646+69G>A	noncoding	Benign
8	120280566	G	C	G120280566C	COL14A1	NM_021110.4(COL14A1):c.3647-145G>C	noncoding	Benign
8	120280708	C	T	C120280708T	COL14A1	NM_021110.4(COL14A1):c.3647-3C>T	noncoding	Benign
8	120281092	G	A	G120281092A	COL14A1	NM_021110.4(COL14A1):c.3824+33G>A	noncoding	Benign
8	120281137	A	G	A120281137G	COL14A1	NM_021110.4(COL14A1):c.3824+78A>G	noncoding	Benign
8	120283505	T	C	T120283505C	COL14A1	NM_021110.4(COL14A1):c.3825-131T>C	noncoding	Benign
8	120283806	A	G	A120283806G	COL14A1	NM_021110.4(COL14A1):c.3967+28A>G	noncoding	Benign
8	120283926	G	A	G120283926A	COL14A1	NM_021110.4(COL14A1):c.3967+148G>A	noncoding	Benign
8	120285807	C	A	C120285807A	COL14A1	NM_021110.4(COL14A1):c.3968-54C>A	noncoding	Benign
8	120286137	T	C	T120286137C	COL14A1	NM_021110.4(COL14A1):c.4077+167T>C	noncoding	Benign
8	120297440	A	T	A120297440T	COL14A1	NM_021110.4(COL14A1):c.4237-71A>T	noncoding	Benign
8	120297623	A	T	A120297623T	COL14A1	NM_021110.4(COL14A1):c.4314+35A>T	noncoding	Benign
8	120297863	C	T	C120297863T	COL14A1	NM_021110.4(COL14A1):c.4314+275C>T	noncoding	Benign
8	120314188	G	T	G120314188T	COL14A1	NM_021110.4(COL14A1):c.4551+161G>T	noncoding	Benign
8	120314234	A	G	A120314234G	COL14A1	NM_021110.4(COL14A1):c.4551+207A>G	noncoding	Benign
8	120315434	C	T	C120315434T	COL14A1	NM_021110.4(COL14A1):c.4552-99C>T	noncoding	Benign
8	120331847	T	C	T120331847C	COL14A1	NM_021110.4(COL14A1):c.4660-294T>C	noncoding	Benign
8	120332222	A	G	A120332222G	COL14A1	NM_021110.4(COL14A1):c.4713+28A>G	noncoding	Benign
8	120332511	G	A	G120332511A	COL14A1	NM_021110.4(COL14A1):c.4714-153G>A	noncoding	Benign
8	120332605	T	G	T120332605G	COL14A1	NM_021110.4(COL14A1):c.4714-59T>G	noncoding	Benign
8	120341177	G	A	G120341177A	COL14A1	NM_021110.4(COL14A1):c.4786-148G>A	noncoding	Benign
8	120341412	A	G	A120341412G	COL14A1	NM_021110.4(COL14A1):c.4821+52A>G	noncoding	Benign
8	120341453	A	T	A120341453T	COL14A1	NM_021110.4(COL14A1):c.4821+93A>T	noncoding	Benign
8	120341643	G	C	G120341643C	COL14A1	NM_021110.4(COL14A1):c.4821+283G>C	noncoding	Benign
8	120342090	T	C	T120342090C	COL14A1	NM_021110.4(COL14A1):c.4822-290T>C	noncoding	Benign
8	120342266	G	A	G120342266A	COL14A1	NM_021110.4(COL14A1):c.4822-114G>A	noncoding	Benign
8	120342267	G	A	G120342267A	COL14A1	NM_021110.4(COL14A1):c.4822-113G>A	noncoding	Benign
8	120342612	G	A	G120342612A	COL14A1	NM_021110.4(COL14A1):c.4888+166G>A	noncoding	Benign
8	120342723	G	A	G120342723A	COL14A1	NM_021110.4(COL14A1):c.4888+277G>A	noncoding	Benign
8	120369098	G	C	G120369098C	COL14A1	NM_021110.4(COL14A1):c.5156-232G>C	noncoding	Benign
8	123504573	G	A	G123504573A	FBXO32	NM_058229.4(FBXO32):c.978+31C>T	noncoding	Benign
8	123504971	A	C	A123504971C	FBXO32	NM_058229.4(FBXO32):c.835-224T>G	noncoding	Benign
8	123506290	A	G	A123506290G	FBXO32	NM_058229.4(FBXO32):c.834+102T>C	noncoding	Benign
8	123513137	T	G	T123513137G	FBXO32	NM_058229.4(FBXO32):c.651+61A>C	noncoding	Benign
8	123513243	C	T	C123513243T	FBXO32	NM_058229.4(FBXO32):c.606G>A:p.Thr202=	coding	Benign
8	123514367	G	A	G123514367A	FBXO32	NM_058229.4(FBXO32):c.373-34C>T	noncoding	Benign
8	123514523	T	C	T123514523C	FBXO32	NM_058229.4(FBXO32):c.373-190A>G	noncoding	Benign
8	123531730	T	C	T123531730C	FBXO32	NM_058229.4(FBXO32):c.372+168A>G	noncoding	Benign
8	123534764	T	C	T123534764C	FBXO32	NM_058229.4(FBXO32):c.167A>G:p.Asn56Ser	coding	Benign
8	123540982	G	C	G123540982C	FBXO32	NM_058229.4(FBXO32):c.33C>G:p.Pro11=	coding	Benign
8	123541245	G	C	G123541245C	FBXO32	Single_allele	noncoding	Benign
8	123541345	G	A	G123541345A	FBXO32	Single_allele	noncoding	Benign
8	123541414	G	A	G123541414A	FBXO32	Single_allele	noncoding	Benign
8	123651747	C	G	C123651747G	KLHL38	NM_001081675.3(KLHL38):c.1180G>C:p.Gly394Arg	coding	Benign
8	124539326	C	T	C124539326T	NDUFB9	NM_005005.3(NDUFB9):c.101+39C>T	noncoding	Benign
8	124542846	A	C	A124542846C	NDUFB9	NM_005005.3(NDUFB9):c.102-241A>C	noncoding	Benign
8	124543292	T	C	T124543292C	NDUFB9	NM_005005.3(NDUFB9):c.294+13T>C	noncoding	Benign/Likely_benign
8	124549814	G	A	G124549814A	NDUFB9	NM_005005.3(NDUFB9):c.462G>A:p.Leu154=	coding	Benign
8	125024791	A	G	A125024791G	WASHC5	NM_014846.4(WASHC5):c.3424-118T>C	noncoding	Benign
8	125028383	G	A	G125028383A	WASHC5	NM_014846.4(WASHC5):c.3423+237C>T	noncoding	Benign
8	125032022	A	C	A125032022C	WASHC5	NM_014846.4(WASHC5):c.3335+219T>G	noncoding	Benign
8	125032195	G	A	G125032195A	WASHC5	NM_014846.4(WASHC5):c.3335+46C>T	noncoding	Benign
8	125032217	G	A	G125032217A	WASHC5	NM_014846.4(WASHC5):c.3335+24C>T	noncoding	Benign
8	125043618	C	T	C125043618T	WASHC5	NM_014846.4(WASHC5):c.2850+207G>A	noncoding	Benign
8	125044113	G	A	G125044113A	WASHC5	NM_014846.4(WASHC5):c.2668-19C>T	noncoding	Benign
8	125044558	A	T	A125044558T	WASHC5	NM_014846.4(WASHC5):c.2645T>A:p.Phe882Tyr	coding	Pathogenic
8	125044778	C	A	C125044778A	WASHC5	NM_014846.4(WASHC5):c.2505-80G>T	noncoding	Benign
8	125047363	C	A	C125047363A	WASHC5	NM_014846.4(WASHC5):c.2380-32G>T	noncoding	Benign
8	125050336	T	C	T125050336C	WASHC5	NM_014846.4(WASHC5):c.2199+228A>G	noncoding	Benign
8	125050700	C	T	C125050700T	WASHC5	NM_014846.4(WASHC5):c.2098-35G>A	noncoding	Benign
8	125050968	C	T	C125050968T	WASHC5	NM_014846.4(WASHC5):c.2098-303G>A	noncoding	Benign
8	125050978	G	C	G125050978C	WASHC5	NM_014846.4(WASHC5):c.2098-313C>G	noncoding	Benign
8	125055569	C	A	C125055569A	WASHC5	NM_014846.4(WASHC5):c.2097+22G>T	noncoding	Benign
8	125055743	A	T	A125055743T	WASHC5	NM_014846.4(WASHC5):c.2017-72T>A	noncoding	Benign
8	125055769	G	A	G125055769A	WASHC5	NM_014846.4(WASHC5):c.2017-98C>T	noncoding	Benign
8	125055861	T	C	T125055861C	WASHC5	NM_014846.4(WASHC5):c.2017-190A>G	noncoding	Benign
8	125055946	T	C	T125055946C	WASHC5	NM_014846.4(WASHC5):c.2017-275A>G	noncoding	Benign
8	125055973	G	A	G125055973A	WASHC5	NM_014846.4(WASHC5):c.2017-302C>T	noncoding	Benign
8	125056374	C	A	C125056374A	WASHC5	NM_014846.4(WASHC5):c.2016+303G>T	noncoding	Benign
8	125056644	T	C	T125056644C	WASHC5	NM_014846.4(WASHC5):c.2016+33A>G	noncoding	Benign
8	125056900	T	C	T125056900C	WASHC5	NM_014846.4(WASHC5):c.1876-83A>G	noncoding	Benign
8	125056907	A	G	A125056907G	WASHC5	NM_014846.4(WASHC5):c.1876-90T>C	noncoding	Benign
8	125057144	T	C	T125057144C	WASHC5	NM_014846.4(WASHC5):c.1876-327A>G	noncoding	Benign
8	125057351	A	G	A125057351G	WASHC5	NM_014846.4(WASHC5):c.1875+205T>C	noncoding	Benign
8	125057659	G	A	G125057659A	WASHC5	NM_014846.4(WASHC5):c.1772C>T:p.Ser591Phe	coding	Pathogenic/Likely_pathogenic
8	125057873	G	A	G125057873A	WASHC5	NM_014846.4(WASHC5):c.1765-207C>T	noncoding	Benign
8	125059138	A	G	A125059138G	WASHC5	NM_014846.4(WASHC5):c.1764+84T>C	noncoding	Benign
8	125059602	G	A	G125059602A	WASHC5	NM_014846.4(WASHC5):c.1522-60C>T	noncoding	Benign
8	125059652	T	A	T125059652A	WASHC5	NM_014846.4(WASHC5):c.1522-110A>T	noncoding	Benign
8	125059668	A	G	A125059668G	WASHC5	NM_014846.4(WASHC5):c.1522-126T>C	noncoding	Benign
8	125060827	T	G	T125060827G	WASHC5	NM_014846.4(WASHC5):c.1521+255A>C	noncoding	Benign
8	125060830	T	G	T125060830G	WASHC5	NM_014846.4(WASHC5):c.1521+252A>C	noncoding	Benign
8	125061129	T	G	T125061129G	WASHC5	NM_014846.4(WASHC5):c.1474A>C:p.Thr492Pro	coding	Pathogenic
8	125061230	C	T	C125061230T	WASHC5	NM_014846.4(WASHC5):c.1409-36G>A	noncoding	Benign
8	125061303	G	A	G125061303A	WASHC5	NM_014846.4(WASHC5):c.1409-109C>T	noncoding	Benign
8	125061331	C	T	C125061331T	WASHC5	NM_014846.4(WASHC5):c.1409-137G>A	noncoding	Benign
8	125061368	A	C	A125061368C	WASHC5	NM_014846.4(WASHC5):c.1409-174T>G	noncoding	Benign
8	125061429	G	A	G125061429A	WASHC5	NM_014846.4(WASHC5):c.1409-235C>T	noncoding	Benign
8	125061493	A	T	A125061493T	WASHC5	NM_014846.4(WASHC5):c.1409-299T>A	noncoding	Benign
8	125061512	A	G	A125061512G	WASHC5	NM_014846.4(WASHC5):c.1409-318T>C	noncoding	Benign
8	125061534	A	G	A125061534G	WASHC5	NM_014846.4(WASHC5):c.1409-340T>C	noncoding	Benign
8	125063274	A	C	A125063274C	WASHC5	NM_014846.4(WASHC5):c.1408+248T>G	noncoding	Benign
8	125063402	T	G	T125063402G	WASHC5	NM_014846.4(WASHC5):c.1408+120A>C	noncoding	Benign
8	125063846	A	C	A125063846C	WASHC5	NM_014846.4(WASHC5):c.1279-195T>G	noncoding	Benign
8	125063924	A	T	A125063924T	WASHC5	NM_014846.4(WASHC5):c.1279-273T>A	noncoding	Benign
8	125063943	C	T	C125063943T	WASHC5	NM_014846.4(WASHC5):c.1279-292G>A	noncoding	Benign
8	125063948	G	A	G125063948A	WASHC5	NM_014846.4(WASHC5):c.1279-297C>T	noncoding	Benign
8	125063958	A	T	A125063958T	WASHC5	NM_014846.4(WASHC5):c.1279-307T>A	noncoding	Benign
8	125063971	C	A	C125063971A	WASHC5	NM_014846.4(WASHC5):c.1279-320G>T	noncoding	Benign
8	125067317	C	A	C125067317A	WASHC5	NM_014846.4(WASHC5):c.1278+275G>T	noncoding	Benign
8	125067479	A	G	A125067479G	WASHC5	NM_014846.4(WASHC5):c.1278+113T>C	noncoding	Benign
8	125067531	A	T	A125067531T	WASHC5	NM_014846.4(WASHC5):c.1278+61T>A	noncoding	Benign
8	125067532	A	T	A125067532T	WASHC5	NM_014846.4(WASHC5):c.1278+60T>A	noncoding	Benign
8	125067951	C	A	C125067951A	WASHC5	NM_014846.4(WASHC5):c.1151-232G>T	noncoding	Benign
8	125068026	C	T	C125068026T	WASHC5	NM_014846.4(WASHC5):c.1151-307G>A	noncoding	Benign
8	125072925	A	C	A125072925C	WASHC5	NM_014846.4(WASHC5):c.1150+228T>G	noncoding	Benign
8	125072995	C	T	C125072995T	WASHC5	NM_014846.4(WASHC5):c.1150+158G>A	noncoding	Benign
8	125073040	A	C	A125073040C	WASHC5	NM_014846.4(WASHC5):c.1150+113T>G	noncoding	Benign
8	125073121	T	C	T125073121C	WASHC5	NM_014846.4(WASHC5):c.1150+32A>G	noncoding	Benign
8	125074787	G	A	G125074787A	WASHC5	NM_014846.4(WASHC5):c.978+211C>T	noncoding	Benign
8	125074815	T	C	T125074815C	WASHC5	NM_014846.4(WASHC5):c.978+183A>G	noncoding	Benign
8	125075195	A	G	A125075195G	WASHC5	NM_014846.4(WASHC5):c.865-84T>C	noncoding	Benign
8	125075304	A	G	A125075304G	WASHC5	NM_014846.4(WASHC5):c.865-193T>C	noncoding	Benign
8	125075327	C	T	C125075327T	WASHC5	NM_014846.4(WASHC5):c.865-216G>A	noncoding	Benign
8	125075335	C	T	C125075335T	WASHC5	NM_014846.4(WASHC5):c.865-224G>A	noncoding	Benign
8	125075336	G	A	G125075336A	WASHC5	NM_014846.4(WASHC5):c.865-225C>T	noncoding	Benign
8	125076147	G	C	G125076147C	WASHC5	NM_014846.4(WASHC5):c.864+201C>G	noncoding	Benign
8	125076270	G	C	G125076270C	WASHC5	NM_014846.4(WASHC5):c.864+78C>G	noncoding	Benign
8	125076492	C	T	C125076492T	WASHC5	NM_014846.4(WASHC5):c.720G>A:p.Ala240=	coding	Benign/Likely_benign
8	125076807	C	T	C125076807T	WASHC5	NM_014846.4(WASHC5):c.712-307G>A	noncoding	Benign
8	125078442	T	C	T125078442C	WASHC5	NM_014846.4(WASHC5):c.711+296A>G	noncoding	Benign
8	125078469	T	C	T125078469C	WASHC5	NM_014846.4(WASHC5):c.711+269A>G	noncoding	Benign
8	125078542	T	G	T125078542G	WASHC5	NM_014846.4(WASHC5):c.711+196A>C	noncoding	Benign
8	125078553	T	C	T125078553C	WASHC5	NM_014846.4(WASHC5):c.711+185A>G	noncoding	Benign
8	125079029	T	C	T125079029C	WASHC5	NM_014846.4(WASHC5):c.519-99A>G	noncoding	Benign
8	125079094	G	A	G125079094A	WASHC5	NM_014846.4(WASHC5):c.519-164C>T	noncoding	Benign
8	125079104	G	A	G125079104A	WASHC5	NM_014846.4(WASHC5):c.519-174C>T	noncoding	Benign
8	125079112	G	A	G125079112A	WASHC5	NM_014846.4(WASHC5):c.519-182C>T	noncoding	Benign
8	125079114	G	A	G125079114A	WASHC5	NM_014846.4(WASHC5):c.519-184C>T	noncoding	Benign
8	125079116	G	A	G125079116A	WASHC5	NM_014846.4(WASHC5):c.519-186C>T	noncoding	Benign
8	125079141	C	T	C125079141T	WASHC5	NM_014846.4(WASHC5):c.519-211G>A	noncoding	Benign
8	125079163	T	C	T125079163C	WASHC5	NM_014846.4(WASHC5):c.519-233A>G	noncoding	Benign
8	125079179	T	C	T125079179C	WASHC5	NM_014846.4(WASHC5):c.519-249A>G	noncoding	Benign
8	125081547	T	C	T125081547C	WASHC5	NM_014846.4(WASHC5):c.518+114A>G	noncoding	Benign
8	125081573	T	C	T125081573C	WASHC5	NM_014846.4(WASHC5):c.518+88A>G	noncoding	Benign
8	125081640	G	A	G125081640A	WASHC5	NM_014846.4(WASHC5):c.518+21C>T	noncoding	Benign
8	125081922	C	A	C125081922A	WASHC5	NM_014846.4(WASHC5):c.418-161G>T	noncoding	Benign
8	125081927	G	A	G125081927A	WASHC5	NM_014846.4(WASHC5):c.418-166C>T	noncoding	Benign
8	125081986	C	T	C125081986T	WASHC5	NM_014846.4(WASHC5):c.418-225G>A	noncoding	Benign
8	125082257	A	G	A125082257G	WASHC5	NM_014846.4(WASHC5):c.417+126T>C	noncoding	Benign
8	125082879	A	G	A125082879G	WASHC5	NM_014846.4(WASHC5):c.332+234T>C	noncoding	Benign
8	125082908	A	G	A125082908G	WASHC5	NM_014846.4(WASHC5):c.332+205T>C	noncoding	Benign
8	125082916	A	G	A125082916G	WASHC5	NM_014846.4(WASHC5):c.332+197T>C	noncoding	Benign
8	125083626	C	A	C125083626A	WASHC5	NM_014846.4(WASHC5):c.186+87G>T	noncoding	Benign
8	125151154	A	G	A125151154G	NSMCE2	NM_173685.4(NSMCE2):c.158-17A>G	noncoding	Benign
8	125182283	C	T	C125182283T	NSMCE2	NM_173685.4(NSMCE2):c.418+27C>T	noncoding	Benign
8	125357768	C	T	C125357768T	NSMCE2	NM_173685.4(NSMCE2):c.576C>T:p.Asp192=	coding	Benign
8	132123216	C	T	C132123216T	KCNQ3	NM_004519.4(KCNQ3):c.*6046G>A	noncoding	Benign
8	132129618	C	T	C132129618T	KCNQ3	NM_004519.4(KCNQ3):c.2263G>A:p.Asp755Asn	coding	Benign/Likely_benign
8	132129753	A	G	A132129753G	KCNQ3	NM_004519.4(KCNQ3):c.2128T>C:p.Tyr710His	coding	Benign/Likely_benign
8	132130047	C	T	C132130047T	KCNQ3	NM_004519.4(KCNQ3):c.1885-51G>A	noncoding	Benign
8	132132078	C	A	C132132078A	KCNQ3	NM_004519.4(KCNQ3):c.1884+102G>T	noncoding	Benign
8	132132099	A	G	A132132099G	KCNQ3	NM_004519.4(KCNQ3):c.1884+81T>C	noncoding	Benign
8	132134251	T	C	T132134251C	KCNQ3	NM_004519.4(KCNQ3):c.1799+39A>G	noncoding	Benign
8	132137720	G	A	G132137720A	KCNQ3	NM_004519.4(KCNQ3):c.1700+165C>T	noncoding	Benign
8	132137848	G	A	G132137848A	KCNQ3	NM_004519.4(KCNQ3):c.1700+37C>T	noncoding	Benign
8	132138172	T	C	T132138172C	KCNQ3	NM_004519.4(KCNQ3):c.1569-156A>G	noncoding	Benign
8	132138173	G	A	G132138173A	KCNQ3	NM_004519.4(KCNQ3):c.1569-157C>T	noncoding	Benign
8	132139858	T	C	T132139858C	KCNQ3	NM_004519.4(KCNQ3):c.1568+218A>G	noncoding	Benign
8	132140086	G	A	G132140086A	KCNQ3	NM_004519.4(KCNQ3):c.1558C>T:p.Arg520Ter	coding	Pathogenic
8	132163724	G	C	G132163724C	KCNQ3	NM_004519.4(KCNQ3):c.1236-230C>G	noncoding	Benign
8	132170264	C	T	C132170264T	KCNQ3	NM_004519.4(KCNQ3):c.1235+70G>A	noncoding	Benign
8	132170354	G	A	G132170354A	KCNQ3	NM_004519.4(KCNQ3):c.1215C>T:p.Val405=	coding	Benign/Likely_benign
8	132170363	A	T	A132170363T	KCNQ3	NM_004519.4(KCNQ3):c.1206T>A:p.Tyr402Ter	coding	Pathogenic
8	132172647	C	T	C132172647T	KCNQ3	NM_004519.4(KCNQ3):c.1091G>A:p.Arg364His	coding	Pathogenic/Likely_pathogenic
8	132172648	G	A	G132172648A	KCNQ3	NM_004519.4(KCNQ3):c.1090C>T:p.Arg364Cys	coding	Pathogenic
8	132172660	G	A	G132172660A	KCNQ3	NM_004519.4(KCNQ3):c.1078C>T:p.Gln360Ter	coding	Pathogenic
8	132172678	C	T	C132172678T	KCNQ3	NM_004519.4(KCNQ3):c.1060G>A:p.Gly354Arg	coding	Pathogenic
8	132174006	G	A	G132174006A	KCNQ3	NM_004519.4(KCNQ3):c.1044+233C>T	noncoding	Benign
8	132174015	A	G	A132174015G	KCNQ3	NM_004519.4(KCNQ3):c.1044+224T>C	noncoding	Benign
8	132174203	G	A	G132174203A	KCNQ3	NM_004519.4(KCNQ3):c.1044+36C>T	noncoding	Benign
8	132174294	C	A	C132174294A	KCNQ3	NM_004519.4(KCNQ3):c.989G>T:p.Arg330Leu	coding	Pathogenic
8	132174294	C	T	C132174294T	KCNQ3	NM_004519.4(KCNQ3):c.989G>A:p.Arg330His	coding	Pathogenic/Likely_pathogenic
8	132174384	A	G	A132174384G	KCNQ3	NM_004519.4(KCNQ3):c.934-35T>C	noncoding	Benign
8	132174502	C	G	C132174502G	KCNQ3	NM_004519.4(KCNQ3):c.934-153G>C	noncoding	Benign
8	132175162	A	G	A132175162G	KCNQ3	NM_004519.4(KCNQ3):c.933+291T>C	noncoding	Benign
8	132175194	A	C	A132175194C	KCNQ3	NM_004519.4(KCNQ3):c.933+259T>G	noncoding	Benign
8	132175469	G	A	G132175469A	KCNQ3	NM_004519.4(KCNQ3):c.917C>T:p.Ala306Val	coding	Pathogenic/Likely_pathogenic
8	132175584	C	G	C132175584G	KCNQ3	NM_004519.4(KCNQ3):c.802G>C:p.Gly268Arg	coding	Pathogenic
8	132180410	T	A	T132180410A	KCNQ3	NM_004519.4(KCNQ3):c.605-81A>T	noncoding	Benign
8	132184336	T	C	T132184336C	KCNQ3	NM_004519.4(KCNQ3):c.509A>G:p.Glu170Gly	coding	Pathogenic
8	132184412	A	G	A132184412G	KCNQ3	NM_004519.4(KCNQ3):c.478-45T>C	noncoding	Benign
8	132186282	T	C	T132186282C	KCNQ3	NM_004519.4(KCNQ3):c.387-101A>G	noncoding	Benign
8	132186425	A	G	A132186425G	KCNQ3	NM_004519.4(KCNQ3):c.387-244T>C	noncoding	Benign
8	132187216	G	A	G132187216A	KCNQ3	NM_004519.4(KCNQ3):c.387-1035C>T	noncoding	Benign
8	132480320	G	A	G132480320A	KCNQ3	NM_004519.4(KCNQ3):c.213C>T:p.Gly71=	coding	Benign
8	132572315	C	G	C132572315G	DNAAF11	NM_012472.6(DNAAF11):c.1392G>C:p.Pro464=	coding	Benign
8	132572414	T	G	T132572414G	DNAAF11	NM_012472.6(DNAAF11):c.1293A>C:p.Ile431=	coding	Benign
8	132572573	G	A	G132572573A	DNAAF11	NM_012472.6(DNAAF11):c.1227-93C>T	noncoding	Benign
8	132572659	C	T	C132572659T	DNAAF11	NM_012472.6(DNAAF11):c.1227-179G>A	noncoding	Benign
8	132583438	T	C	T132583438C	DNAAF11	NM_012472.6(DNAAF11):c.1226+256A>G	noncoding	Benign
8	132583752	G	A	G132583752A	DNAAF11	NM_012472.6(DNAAF11):c.1168C>T:p.Arg390Ter	coding	Pathogenic
8	132583781	T	C	T132583781C	DNAAF11	NM_012472.6(DNAAF11):c.1141-2A>G	noncoding	Pathogenic
8	132610387	T	G	T132610387G	DNAAF11	NM_012472.6(DNAAF11):c.1045-126A>C	noncoding	Benign
8	132615020	C	T	C132615020T	DNAAF11	NM_012472.6(DNAAF11):c.974+18G>A	noncoding	Benign/Likely_benign
8	132615231	A	G	A132615231G	DNAAF11	NM_012472.6(DNAAF11):c.915-134T>C	noncoding	Benign
8	132615357	A	G	A132615357G	DNAAF11	NM_012472.6(DNAAF11):c.915-260T>C	noncoding	Benign
8	132622568	C	T	C132622568T	DNAAF11	NM_012472.6(DNAAF11):c.914+43G>A	noncoding	Benign
8	132625216	A	G	A132625216G	DNAAF11	NM_012472.6(DNAAF11):c.836+56T>C	noncoding	Benign
8	132625530	T	A	T132625530A	DNAAF11	NM_012472.6(DNAAF11):c.654-76A>T	noncoding	Benign
8	132625704	G	A	G132625704A	DNAAF11	NM_012472.6(DNAAF11):c.654-250C>T	noncoding	Benign
8	132633134	T	C	T132633134C	DNAAF11	NM_012472.6(DNAAF11):c.430-171A>G	noncoding	Benign
8	132661414	A	T	A132661414T	DNAAF11	NM_012472.6(DNAAF11):c.178+46T>A	noncoding	Benign
8	132661699	C	T	C132661699T	DNAAF11	NM_012472.6(DNAAF11):c.11-72G>A	noncoding	Benign
8	132675158	G	C	G132675158C	DNAAF11	NM_012472.6(DNAAF11):c.10+326C>G	noncoding	Benign
8	132675377	G	T	G132675377T	DNAAF11	NM_012472.6(DNAAF11):c.10+107C>A	noncoding	Benign
8	132867967	G	A	G132867967A	TG	NM_003235.5(TG):c.68-148G>A	noncoding	Benign
8	132868089	T	C	T132868089C	TG	NM_003235.5(TG):c.68-26T>C	noncoding	Benign
8	132871548	C	T	C132871548T	TG	NM_003235.5(TG):c.475C>T:p.Arg159Ter	coding	Pathogenic
8	132871775	T	C	T132871775C	TG	NM_003235.5(TG):c.478+224T>C	noncoding	Benign
8	132873309	T	C	T132873309C	TG	NM_003235.5(TG):c.638+88T>C	noncoding	Benign
8	132882257	C	T	C132882257T	TG	NM_003235.5(TG):c.746-212C>T	noncoding	Benign
8	132898717	T	G	T132898717G	TG	NM_003235.5(TG):c.3218-81T>G	noncoding	Benign
8	132899997	A	C	A132899997C	TG	NM_003235.5(TG):c.3331-240A>C	noncoding	Benign
8	132901280	A	G	A132901280G	TG	NM_003235.5(TG):c.3434-73A>G	noncoding	Benign
8	132906524	A	G	A132906524G	TG	NM_003235.5(TG):c.3635-164A>G	noncoding	Benign
8	132907041	G	A	G132907041A	TG	NM_003235.5(TG):c.3847+141G>A	noncoding	Benign
8	132908076	A	G	A132908076G	TG	NM_003235.5(TG):c.3848-110A>G	noncoding	Benign
8	132908379	C	G	C132908379G	TG	NM_003235.5(TG):c.4002+39C>G	noncoding	Benign
8	132912782	C	T	C132912782T	TG	NM_003235.5(TG):c.4160-265C>T	noncoding	Benign
8	132912873	A	G	A132912873G	TG	NM_003235.5(TG):c.4160-174A>G	noncoding	Benign
8	132912964	T	G	T132912964G	TG	NM_003235.5(TG):c.4160-83T>G	noncoding	Benign
8	132913414	A	G	A132913414G	TG	NM_003235.5(TG):c.4378+149A>G	noncoding	Benign
8	132923047	T	C	T132923047C	TG	NM_003235.5(TG):c.4529-291T>C	noncoding	Benign
8	132923198	A	G	A132923198G	TG	NM_003235.5(TG):c.4529-140A>G	noncoding	Benign
8	132929381	T	G	T132929381G	TG	NM_003235.5(TG):c.4816+189T>G	noncoding	Benign
8	132933844	T	C	T132933844C	TG	NM_003235.5(TG):c.4932+168T>C	noncoding	Benign
8	132933954	T	C	T132933954C	TG	NM_003235.5(TG):c.4932+278T>C	noncoding	Benign
8	132934013	T	C	T132934013C	TG	NM_003235.5(TG):c.4932+337T>C	noncoding	Benign
8	132935501	T	C	T132935501C	TG	NM_003235.5(TG):c.4933-255T>C	noncoding	Benign
8	132935591	T	G	T132935591G	TG	NM_003235.5(TG):c.4933-165T>G	noncoding	Benign
8	132935614	A	G	A132935614G	TG	NM_003235.5(TG):c.4933-142A>G	noncoding	Benign
8	132935996	T	G	T132935996G	TG	NM_003235.5(TG):c.5041+132T>G	noncoding	Benign
8	132941491	T	C	T132941491C	TG	NM_003235.5(TG):c.5182T>C:p.Cys1728Arg	coding	Pathogenic
8	132941662	G	T	G132941662T	TG	NM_003235.5(TG):c.5233+120G>T	noncoding	Benign
8	132948691	T	C	T132948691C	TG	NM_003235.5(TG):c.5234-85T>C	noncoding	Benign
8	132948746	C	T	C132948746T	TG	NM_003235.5(TG):c.5234-30C>T	noncoding	Benign
8	132948992	G	C	G132948992C	TG	NM_003235.5(TG):c.5401+49G>C	noncoding	Benign
8	132949034	C	T	C132949034T	TG	NM_003235.5(TG):c.5401+91C>T	noncoding	Benign
8	132963161	C	T	C132963161T	TG	NM_003235.5(TG):c.5548+87C>T	noncoding	Benign
8	132966466	C	G	C132966466G	TG	NM_003235.5(TG):c.5549-94C>G	noncoding	Benign
8	132967627	C	T	C132967627T	TG	NM_003235.5(TG):c.5687-167C>T	noncoding	Benign
8	132969260	C	T	C132969260T	TG	NM_003235.5(TG):c.5864-198C>T	noncoding	Benign
8	132971496	G	A	G132971496A	TG	NM_003235.5(TG):c.5976-298G>A	noncoding	Benign
8	132972870	A	G	A132972870G	TG	NM_003235.5(TG):c.6199+129A>G	noncoding	Benign
8	132983230	A	G	A132983230G	TG	NM_003235.5(TG):c.6200-120A>G	noncoding	Benign
8	132983604	T	C	T132983604C	TG	NM_003235.5(TG):c.6262+192T>C	noncoding	Benign
8	133012037	T	A	T133012037A	TG	NM_003235.5(TG):c.6397+2T>A	noncoding	Pathogenic
8	133012217	G	A	G133012217A	TG	NM_003235.5(TG):c.6397+182G>A	noncoding	Benign
8	133012327	G	A	G133012327A	TG	NM_003235.5(TG):c.6397+292G>A	noncoding	Benign
8	133013536	A	T	A133013536T	TG	NM_003235.5(TG):c.6398-64A>T	noncoding	Benign
8	133013538	A	G	A133013538G	TG	NM_003235.5(TG):c.6398-62A>G	noncoding	Benign
8	133017916	C	A	C133017916A	TG	NM_003235.5(TG):c.6701C>A:p.Ala2234Asp	coding	Pathogenic
8	133018172	A	T	A133018172T	TG	NM_003235.5(TG):c.6782+175A>T	noncoding	Benign
8	133022368	T	G	T133022368G	TG	NM_003235.5(TG):c.7036+218T>G	noncoding	Benign
8	133030298	T	G	T133030298G	TG	NM_003235.5(TG):c.7239+275T>G	noncoding	Benign
8	133094892	T	G	T133094892G	TG	NM_003235.5(TG):c.7240-152T>G	noncoding	Benign
8	133094979	A	G	A133094979G	TG	NM_003235.5(TG):c.7240-65A>G	noncoding	Benign
8	133095374	G	A	G133095374A	TG	NM_003235.5(TG):c.7404+166G>A	noncoding	Benign
8	133095500	C	A	C133095500A	TG	NM_003235.5(TG):c.7404+292C>A	noncoding	Benign
8	133113274	C	T	C133113274T	TG	NM_003235.5(TG):c.7573-148C>T	noncoding	Benign
8	133113795	A	G	A133113795G	TG	NM_003235.5(TG):c.7754+192A>G	noncoding	Benign
8	133133268	G	A	G133133268A	TG	NM_003235.5(TG):c.7998-202G>A	noncoding	Benign
8	133133527	G	A	G133133527A	TG	NM_003235.5(TG):c.8055G>A:p.Trp2685Ter	coding	Pathogenic
8	133134378	A	G	A133134378G	TG	NM_003235.5(TG):c.8189-298A>G	noncoding	Benign
8	133238614	G	C	G133238614C	NDRG1	NM_006096.4(NDRG1):c.*264C>G	noncoding	Benign/Likely_benign
8	133239120	C	A	C133239120A	NDRG1	NM_006096.4(NDRG1):c.944-1G>T	coding	Pathogenic/Likely_pathogenic
8	133239161	C	G	C133239161G	NDRG1	NM_006096.4(NDRG1):c.944-42G>C	noncoding	Benign
8	133241929	C	T	C133241929T	NDRG1	NM_006096.4(NDRG1):c.943+94G>A	noncoding	Benign
8	133242005	G	A	G133242005A	NDRG1	NM_006096.4(NDRG1):c.943+18C>T	noncoding	Benign
8	133242200	T	C	T133242200C	NDRG1	NM_006096.4(NDRG1):c.892-126A>G	noncoding	Benign
8	133244634	A	G	A133244634G	NDRG1	NM_006096.4(NDRG1):c.856-244T>C	noncoding	Benign
8	133244635	C	A	C133244635A	NDRG1	NM_006096.4(NDRG1):c.856-245G>T	noncoding	Benign
8	133246320	T	C	T133246320C	NDRG1	NM_006096.4(NDRG1):c.855+296A>G	noncoding	Benign
8	133248787	G	C	G133248787C	NDRG1	NM_006096.4(NDRG1):c.699-16C>G	noncoding	Benign/Likely_benign
8	133248992	C	A	C133248992A	NDRG1	NM_006096.4(NDRG1):c.699-221G>T	noncoding	Benign
8	133254342	A	G	A133254342G	NDRG1	NM_006096.4(NDRG1):c.594+197T>C	noncoding	Benign
8	133254410	G	A	G133254410A	NDRG1	NM_006096.4(NDRG1):c.594+129C>T	noncoding	Benign
8	133256657	G	A	G133256657A	NDRG1	NM_006096.4(NDRG1):c.537+120C>T	noncoding	Benign
8	133257065	G	A	G133257065A	NDRG1	NM_006096.4(NDRG1):c.451-202C>T	noncoding	Benign
8	133258060	C	T	C133258060T	NDRG1	NM_006096.4(NDRG1):c.450+306G>A	noncoding	Benign
8	133258214	G	A	G133258214A	NDRG1	NM_006096.4(NDRG1):c.450+152C>T	noncoding	Benign
8	133258460	G	A	G133258460A	NDRG1	NM_006096.4(NDRG1):c.390-34C>T	noncoding	Benign
8	133258644	G	A	G133258644A	NDRG1	NM_006096.4(NDRG1):c.390-218C>T	noncoding	Benign
8	133259231	C	T	C133259231T	NDRG1	NM_006096.4(NDRG1):c.327-1G>A	coding	Pathogenic
8	133259263	G	A	G133259263A	NDRG1	NM_006096.4(NDRG1):c.327-33C>T	noncoding	Benign
8	133259297	C	T	C133259297T	NDRG1	NM_006096.4(NDRG1):c.327-67G>A	noncoding	Benign
8	133259405	T	C	T133259405C	NDRG1	NM_006096.4(NDRG1):c.327-175A>G	noncoding	Benign
8	133262136	G	T	G133262136T	NDRG1	NM_006096.4(NDRG1):c.237C>A:p.Tyr79Ter	coding	Pathogenic
8	133264545	A	T	A133264545T	NDRG1	NM_006096.4(NDRG1):c.205+2T>A	noncoding	Pathogenic
8	133264821	G	A	G133264821A	NDRG1	NM_006096.4(NDRG1):c.100-169C>T	noncoding	Benign
8	133284296	G	A	G133284296A	NDRG1	NM_006096.4(NDRG1):c.16C>T:p.Gln6Ter	coding	Pathogenic
8	133284520	A	G	A133284520G	NDRG1	NM_006096.4(NDRG1):c.-18-191T>C	noncoding	Benign
8	133296615	A	C	A133296615C	NDRG1	NM_006096.4(NDRG1):c.-19+519T>G	noncoding	Benign
8	133296673	A	G	A133296673G	NDRG1	NM_006096.4(NDRG1):c.-19+461T>C	noncoding	Benign
8	133296891	G	A	G133296891A	NDRG1	NM_006096.4(NDRG1):c.-19+243C>T	noncoding	Benign
8	139618747	A	G	A139618747G	KCNK9	NM_001282534.2(KCNK9):c.636T>C:p.Gly212=	coding	Benign
8	139731374	G	T	G139731374T	TRAPPC9	NM_001160372.4(TRAPPC9):c.3280-146C>A	noncoding	Benign
8	139731520	G	A	G139731520A	TRAPPC9	NM_001160372.4(TRAPPC9):c.3280-292C>T	noncoding	Benign
8	139731978	C	T	C139731978T	TRAPPC9	NM_001160372.4(TRAPPC9):c.3279+1G>A	noncoding	Pathogenic
8	139732483	A	G	A139732483G	TRAPPC9	NM_001160372.4(TRAPPC9):c.3056-281T>C	noncoding	Benign
8	139885861	T	C	T139885861C	TRAPPC9	NM_001160372.4(TRAPPC9):c.3055+18A>G	noncoding	Benign
8	139910027	A	C	A139910027C	TRAPPC9	NM_001160372.4(TRAPPC9):c.2964+120T>G	noncoding	Benign
8	139910154	C	T	C139910154T	TRAPPC9	NM_001160372.4(TRAPPC9):c.2957G>A:p.Trp986Ter	coding	Pathogenic
8	139910257	C	A	C139910257A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2854G>T:p.Glu952Ter	coding	Pathogenic/Likely_pathogenic
8	139910455	C	T	C139910455T	TRAPPC9	NM_001160372.4(TRAPPC9):c.2811-155G>A	noncoding	Benign
8	139910626	G	A	G139910626A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2811-326C>T	noncoding	Benign
8	139988520	G	A	G139988520A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2810+206C>T	noncoding	Benign
8	139988709	G	T	G139988709T	TRAPPC9	NM_001160372.4(TRAPPC9):c.2810+17C>A	noncoding	Benign
8	139988787	C	A	C139988787A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2749G>T:p.Glu917Ter	coding	Pathogenic
8	139988839	G	A	G139988839A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2700-3C>T	noncoding	Benign
8	139989026	G	A	G139989026A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2700-190C>T	noncoding	Benign
8	140023936	C	T	C140023936T	TRAPPC9	NM_001160372.4(TRAPPC9):c.2699+1G>A	noncoding	Pathogenic
8	140024225	C	T	C140024225T	TRAPPC9	NM_001160372.4(TRAPPC9):c.2557-146G>A	noncoding	Benign
8	140221421	A	G	A140221421G	TRAPPC9	NM_001160372.4(TRAPPC9):c.2556+38T>C	noncoding	Benign
8	140253107	A	G	A140253107G	TRAPPC9	NM_001160372.4(TRAPPC9):c.2279-178T>C	noncoding	Benign
8	140253230	C	T	C140253230T	TRAPPC9	NM_001160372.4(TRAPPC9):c.2279-301G>A	noncoding	Benign
8	140253239	C	A	C140253239A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2279-310G>T	noncoding	Benign
8	140275383	G	A	G140275383A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2278+275C>T	noncoding	Benign
8	140275393	G	A	G140275393A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2278+265C>T	noncoding	Benign
8	140275411	G	C	G140275411C	TRAPPC9	NM_001160372.4(TRAPPC9):c.2278+247C>G	noncoding	Benign
8	140275933	G	A	G140275933A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2115-112C>T	noncoding	Benign
8	140283586	G	A	G140283586A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2114+303C>T	noncoding	Benign
8	140287514	T	C	T140287514C	TRAPPC9	NM_001160372.4(TRAPPC9):c.1981+94A>G	noncoding	Benign
8	140287660	G	C	G140287660C	TRAPPC9	NM_001160372.4(TRAPPC9):c.1929C>G:p.Tyr643Ter	coding	Pathogenic
8	140287723	G	A	G140287723A	TRAPPC9	NM_001160372.4(TRAPPC9):c.1866C>T:p.Thr622=	coding	Benign/Likely_benign
8	140290904	A	T	A140290904T	TRAPPC9	NM_001160372.4(TRAPPC9):c.1854+89T>A	noncoding	Benign
8	140291007	G	A	G140291007A	TRAPPC9	NM_001160372.4(TRAPPC9):c.1840C>T:p.Arg614Ter	coding	Pathogenic
8	140291200	T	A	T140291200A	TRAPPC9	NM_001160372.4(TRAPPC9):c.1769-122A>T	noncoding	Benign
8	140300387	A	G	A140300387G	TRAPPC9	NM_001160372.4(TRAPPC9):c.1768+82T>C	noncoding	Benign
8	140397573	G	A	G140397573A	TRAPPC9	NM_001160372.4(TRAPPC9):c.1134+47C>T	noncoding	Benign
8	140397599	T	C	T140397599C	TRAPPC9	NM_001160372.4(TRAPPC9):c.1134+21A>G	noncoding	Benign
8	140426727	C	T	C140426727T	TRAPPC9	NM_001160372.4(TRAPPC9):c.860-86G>A	noncoding	Benign
8	140439502	T	C	T140439502C	TRAPPC9	NM_001160372.4(TRAPPC9):c.585-305A>G	noncoding	Benign
8	140450771	G	A	G140450771A	TRAPPC9	NM_001160372.4(TRAPPC9):c.584+19C>T	noncoding	Benign/Likely_benign
8	140450831	C	T	C140450831T	TRAPPC9	NM_001160372.4(TRAPPC9):c.543G>A:p.Pro181=	coding	Benign/Likely_benign
8	140450918	G	A	G140450918A	TRAPPC9	NM_001160372.4(TRAPPC9):c.456C>T:p.Ile152=	coding	Benign/Likely_benign
8	140451085	C	A	C140451085A	TRAPPC9	NM_001160372.4(TRAPPC9):c.289G>T:p.Glu97Ter	coding	Pathogenic
8	140451409	G	A	G140451409A	TRAPPC9	NM_001160372.4(TRAPPC9):c.-10-26C>T	noncoding	Benign
8	140451460	G	A	G140451460A	TRAPPC9	NM_001160372.4(TRAPPC9):c.-10-77C>T	noncoding	Benign
8	140458474	G	A	G140458474A	TRAPPC9	NM_031466.8(TRAPPC9):c.-204C>T	coding	Pathogenic
8	140535542	C	G	C140535542G	AGO2	NM_012154.5(AGO2):c.2197G>C:p.Gly733Arg	coding	Pathogenic
8	140539349	G	A	G140539349A	AGO2	NM_012154.5(AGO2):c.2140C>T:p.Arg714Trp	coding	Pathogenic/Likely_pathogenic
8	140541308	G	A	G140541308A	AGO2	NM_012154.5(AGO2):c.1890C>T:p.Arg630=	coding	Benign
8	140549259	G	A	G140549259A	AGO2	NM_012154.5(AGO2):c.1443C>T:p.Ala481=	coding	Benign
8	140556212	C	T	C140556212T	AGO2	NM_012154.5(AGO2):c.1101G>A:p.Ala367=	coding	Benign
8	140556222	A	G	A140556222G	AGO2	NM_012154.5(AGO2):c.1091T>C:p.Met364Thr	coding	Pathogenic
8	140556243	G	A	G140556243A	AGO2	NM_012154.5(AGO2):c.1070C>T:p.Thr357Met	coding	Pathogenic
8	140560454	A	G	A140560454G	AGO2	NM_012154.5(AGO2):c.575T>C:p.Leu192Pro	coding	Pathogenic
8	140572797	T	C	T140572797C	AGO2	NM_012154.5(AGO2):c.336+15A>G	noncoding	Benign
8	140658761	A	T	A140658761T	PTK2	NM_001352702.2(PTK2):c.*705T>A	noncoding	Benign
8	140780382	A	C	A140780382C	PTK2	NM_001352702.2(PTK2):c.1177+9092T>G	noncoding	Benign
8	142481726	C	G	C142481726G	ADGRB1	NM_001702.3(ADGRB1):c.2130+15C>G	noncoding	Benign
8	142612823	G	A	G142612823A	ARC	NM_015193.5(ARC):c.*258C>T	noncoding	Benign
8	142665678	C	T	C142665678T	JRK	NM_003724.4(JRK):c.381G>A:p.Glu127=	coding	Benign
8	142665970	G	A	G142665970A	JRK	NM_003724.4(JRK):c.89C>T:p.Thr30Met	coding	Benign
8	142742440	C	G	C142742440G	SLURP1	Single_allele	noncoding	Benign
8	142742445	G	C	G142742445C	SLURP1	Single_allele	noncoding	Benign
8	142874831	G	C	G142874831C	CYP11B1	NM_000497.4(CYP11B1):c.1398+126C>G	noncoding	Benign
8	142875013	G	A	G142875013A	CYP11B1	NM_000497.4(CYP11B1):c.1342C>T:p.Arg448Cys	coding	Pathogenic
8	142875233	C	T	C142875233T	CYP11B1	NM_000497.4(CYP11B1):c.1200+1G>A	noncoding	Pathogenic
8	142875276	C	T	C142875276T	CYP11B1	NM_000497.4(CYP11B1):c.1158G>A:p.Ala386=	coding	Benign
8	142875283	C	T	C142875283T	CYP11B1	NM_000497.4(CYP11B1):c.1151G>A:p.Arg384Gln	coding	Pathogenic/Likely_pathogenic
8	142875360	T	C	T142875360C	CYP11B1	NM_000497.4(CYP11B1):c.1122-48A>G	noncoding	Benign
8	142875387	G	C	G142875387C	CYP11B1	NM_000497.4(CYP11B1):c.1122-75C>G	noncoding	Benign
8	142875392	A	C	A142875392C	CYP11B1	NM_000497.4(CYP11B1):c.1122-80T>G	noncoding	Benign
8	142875438	G	A	G142875438A	CYP11B1	NM_000497.4(CYP11B1):c.1122-126C>T	noncoding	Benign
8	142875509	T	C	T142875509C	CYP11B1	NM_000497.4(CYP11B1):c.1122-197A>G	noncoding	Benign
8	142875549	A	G	A142875549G	CYP11B1	NM_000497.4(CYP11B1):c.1121+163T>C	noncoding	Benign
8	142875663	C	T	C142875663T	CYP11B1	NM_000497.4(CYP11B1):c.1121+49G>A	noncoding	Benign
8	142875838	C	T	C142875838T	CYP11B1	NM_000497.4(CYP11B1):c.995G>A:p.Arg332Gln	coding	Pathogenic
8	142875940	C	A	C142875940A	CYP11B1	NM_000497.4(CYP11B1):c.955-62G>T	noncoding	Benign
8	142875989	A	C	A142875989C	CYP11B1	NM_000497.4(CYP11B1):c.955-111T>G	noncoding	Benign
8	142876240	C	G	C142876240G	CYP11B1	NM_000497.4(CYP11B1):c.954+1G>C	noncoding	Pathogenic
8	142876240	C	T	C142876240T	CYP11B1	NM_000497.4(CYP11B1):c.954+1G>A	noncoding	Pathogenic
8	142876241	C	T	C142876241T	CYP11B1	NM_000497.4(CYP11B1):c.954G>A:p.Thr318=	coding	Pathogenic/Likely_pathogenic
8	142876282	T	A	T142876282A	CYP11B1	NM_000497.4(CYP11B1):c.913A>T:p.Lys305Ter	coding	Pathogenic
8	142876440	G	A	G142876440A	CYP11B1	NM_000497.4(CYP11B1):c.800-45C>T	noncoding	Benign
8	142876470	A	C	A142876470C	CYP11B1	NM_000497.4(CYP11B1):c.800-75T>G	noncoding	Benign
8	142876542	G	A	G142876542A	CYP11B1	NM_000497.4(CYP11B1):c.799+140C>T	noncoding	Benign
8	142876563	A	C	A142876563C	CYP11B1	NM_000497.4(CYP11B1):c.799+119T>G	noncoding	Benign
8	142876682	C	T	C142876682T	CYP11B1	NM_000497.4(CYP11B1):c.799G>A:p.Gly267Ser	coding	Pathogenic
8	142876688	G	A	G142876688A	CYP11B1	NM_000497.4(CYP11B1):c.793C>T:p.Gln265Ter	coding	Pathogenic
8	142877063	G	A	G142877063A	CYP11B1	NM_000497.4(CYP11B1):c.555C>T:p.Thr185=	coding	Benign
8	142877098	T	A	T142877098A	CYP11B1	NM_000497.4(CYP11B1):c.520A>T:p.Lys174Ter	coding	Pathogenic
8	142877169	G	T	G142877169T	CYP11B1	NM_000497.4(CYP11B1):c.449C>A:p.Ser150Ter	coding	Pathogenic
8	142877191	G	A	G142877191A	CYP11B1	NM_000497.4(CYP11B1):c.427C>T:p.Arg143Trp	coding	Pathogenic/Likely_pathogenic
8	142877197	G	A	G142877197A	CYP11B1	NM_000497.4(CYP11B1):c.421C>T:p.Arg141Ter	coding	Pathogenic
8	142877264	G	A	G142877264A	CYP11B1	NM_000497.4(CYP11B1):c.396-42C>T	noncoding	Benign
8	142879079	C	G	C142879079G	CYP11B1	NM_000497.4(CYP11B1):c.348G>C:p.Trp116Cys	coding	Pathogenic
8	142879210	G	A	G142879210A	CYP11B1	NM_000497.4(CYP11B1):c.240-23C>T	noncoding	Benign
8	142879769	C	T	C142879769T	CYP11B1	NM_000497.4(CYP11B1):c.45G>A:p.Trp15Ter	coding	Pathogenic/Likely_pathogenic
8	142912652	G	A	G142912652A	CYP11B2	NM_000498.3(CYP11B2):c.1276C>T:p.Gln426Ter	coding	Pathogenic
8	142912905	T	C	T142912905C	CYP11B2	NM_000498.3(CYP11B2):c.1122-20A>G	noncoding	Benign
8	142912933	T	C	T142912933C	CYP11B2	NM_000498.3(CYP11B2):c.1122-48A>G	noncoding	Benign
8	142912972	G	C	G142912972C	CYP11B2	NM_000498.3(CYP11B2):c.1122-87C>G	noncoding	Benign
8	142912975	G	C	G142912975C	CYP11B2	NM_000498.3(CYP11B2):c.1122-90C>G	noncoding	Benign
8	142912980	A	T	A142912980T	CYP11B2	NM_000498.3(CYP11B2):c.1122-95T>A	noncoding	Benign
8	142913011	A	G	A142913011G	CYP11B2	NM_000498.3(CYP11B2):c.1122-126T>C	noncoding	Benign
8	142913340	G	A	G142913340A	CYP11B2	NM_000498.3(CYP11B2):c.1066C>T:p.Gln356Ter	coding	Pathogenic
8	142913434	C	T	C142913434T	CYP11B2	NM_000498.3(CYP11B2):c.972G>A:p.Leu324=	coding	Benign
8	142913528	T	G	T142913528G	CYP11B2	NM_000498.3(CYP11B2):c.955-77A>C	noncoding	Benign
8	142914326	C	A	C142914326A	CYP11B2	NM_000498.3(CYP11B2):c.892G>T:p.Glu298Ter	coding	Pathogenic
8	142914565	G	A	G142914565A	CYP11B2	NM_000498.3(CYP11B2):c.799+140C>T	noncoding	Benign
8	142914744	T	A	T142914744A	CYP11B2	NM_000498.3(CYP11B2):c.760A>T:p.Lys254Ter	coding	Pathogenic
8	142914822	C	A	C142914822A	CYP11B2	NM_000498.3(CYP11B2):c.682G>T:p.Glu228Ter	coding	Pathogenic
8	142914947	A	G	A142914947G	CYP11B2	NM_000498.3(CYP11B2):c.596-39T>C	noncoding	Benign
8	142915047	T	G	T142915047G	CYP11B2	NM_000498.3(CYP11B2):c.594A>C:p.Glu198Asp	coding	Pathogenic/Likely_pathogenic
8	142915109	G	A	G142915109A	CYP11B2	NM_000498.3(CYP11B2):c.532C>T:p.Gln178Ter	coding	Pathogenic
8	142915220	G	A	G142915220A	CYP11B2	NM_000498.3(CYP11B2):c.421C>T:p.Arg141Ter	coding	Pathogenic
8	142915436	A	G	A142915436G	CYP11B2	NM_000498.3(CYP11B2):c.396-191T>C	noncoding	Benign
8	142915548	G	A	G142915548A	CYP11B2	NM_000498.3(CYP11B2):c.396-303C>T	noncoding	Benign
8	142917010	C	T	C142917010T	CYP11B2	NM_000498.3(CYP11B2):c.395+49G>A	noncoding	Benign
8	142917150	G	A	G142917150A	CYP11B2	NM_000498.3(CYP11B2):c.304C>T:p.Gln102Ter	coding	Pathogenic
8	142917166	A	G	A142917166G	CYP11B2	NM_000498.3(CYP11B2):c.288T>C:p.Asp96=	coding	Benign
8	142917216	T	C	T142917216C	CYP11B2	NM_000498.3(CYP11B2):c.240-2A>G	noncoding	Pathogenic
8	142917246	G	A	G142917246A	CYP11B2	NM_000498.3(CYP11B2):c.240-32C>T	noncoding	Benign
8	142917624	G	A	G142917624A	CYP11B2	NM_000498.3(CYP11B2):c.217C>T:p.Gln73Ter	coding	Pathogenic
8	142917672	T	G	T142917672G	CYP11B2	NM_000498.3(CYP11B2):c.169A>C:p.Arg57=	coding	Benign
8	142917706	T	C	T142917706C	CYP11B2	NM_000498.3(CYP11B2):c.135A>G:p.Pro45=	coding	Benign
8	143212985	G	C	G143212985C	GPIHBP1	Single_allele	noncoding	Benign
8	143213279	C	T	C143213279T	GPIHBP1	NM_178172.6(GPIHBP1):c.12C>T:p.Leu4=	coding	Benign
8	143213459	G	A	G143213459A	GPIHBP1	NM_178172.6(GPIHBP1):c.52+140G>A	noncoding	Benign
8	143213907	G	T	G143213907T	GPIHBP1	NM_178172.6(GPIHBP1):c.138G>T:p.Val46=	coding	Benign
8	143214762	C	G	C143214762G	GPIHBP1	NM_178172.6(GPIHBP1):c.182-251C>G	noncoding	Benign
8	143215012	G	T	G143215012T	GPIHBP1	NM_178172.6(GPIHBP1):c.182-1G>T	noncoding	Pathogenic
8	143215098	C	A	C143215098A	GPIHBP1	NM_178172.6(GPIHBP1):c.267C>A:p.Cys89Ter	coding	Pathogenic
8	143215145	G	A	G143215145A	GPIHBP1	NM_178172.6(GPIHBP1):c.295+19G>A	noncoding	Benign
8	143215248	C	T	C143215248T	GPIHBP1	NM_178172.6(GPIHBP1):c.296-11C>T	noncoding	Benign
8	143215250	C	T	C143215250T	GPIHBP1	NM_178172.6(GPIHBP1):c.296-9C>T	noncoding	Benign
8	143215394	C	T	C143215394T	GPIHBP1	NM_178172.6(GPIHBP1):c.431C>T:p.Ser144Phe	coding	Benign
8	143215654	C	T	C143215654T	GPIHBP1	NM_178172.6(GPIHBP1):c.*136C>T	coding	Benign
8	143215771	C	T	C143215771T	GPIHBP1	NM_178172.6(GPIHBP1):c.*253C>T	coding	Benign
8	143215792	T	C	T143215792C	GPIHBP1	NM_178172.6(GPIHBP1):c.*274T>C	coding	Benign
8	143309468	G	A	G143309468A	TOP1MT	NM_052963.3(TOP1MT):c.1779C>T:p.Ala593=	coding	Benign
8	143309558	A	G	A143309558G	TOP1MT	NM_052963.3(TOP1MT):c.1704-15T>C	noncoding	Benign
8	143310198	G	A	G143310198A	TOP1MT	NM_052963.3(TOP1MT):c.1573C>T:p.Arg525Trp	coding	Benign
8	143316087	C	G	C143316087G	TOP1MT	NM_052963.3(TOP1MT):c.1370G>C:p.Arg457Pro	coding	Benign
8	143317823	G	A	G143317823A	TOP1MT	NM_052963.3(TOP1MT):c.1230C>T:p.Asn410=	coding	Benign
8	143317851	T	C	T143317851C	TOP1MT	NM_052963.3(TOP1MT):c.1216-14A>G	noncoding	Benign
8	143318010	C	T	C143318010T	TOP1MT	NM_052963.3(TOP1MT):c.1215+8G>A	noncoding	Benign
8	143321279	G	A	G143321279A	TOP1MT	NM_052963.3(TOP1MT):c.1068C>T:p.Gly356=	coding	Benign
8	143321315	G	C	G143321315C	TOP1MT	NM_052963.3(TOP1MT):c.1032C>G:p.Arg344=	coding	Benign
8	143321335	C	A	C143321335A	TOP1MT	NM_052963.3(TOP1MT):c.1012G>T:p.Val338Leu	coding	Benign
8	143324535	C	T	C143324535T	TOP1MT	NM_052963.3(TOP1MT):c.766G>A:p.Val256Ile	coding	Benign
8	143324603	G	A	G143324603A	TOP1MT	NM_052963.3(TOP1MT):c.698C>T:p.Ala233Val	coding	Benign
8	143325505	T	C	T143325505C	TOP1MT	NM_052963.3(TOP1MT):c.512A>G:p.Gln171Arg	coding	Benign
8	143326336	C	T	C143326336T	TOP1MT	NM_052963.3(TOP1MT):c.369G>A:p.Ala123=	coding	Benign
8	143326338	C	T	C143326338T	TOP1MT	NM_052963.3(TOP1MT):c.367G>A:p.Ala123Thr	coding	Benign
8	143331246	G	A	G143331246A	TOP1MT	NM_052963.3(TOP1MT):c.216C>T:p.Asp72=	coding	Benign
8	143334731	A	C	A143334731C	TOP1MT	NM_052963.3(TOP1MT):c.122+9T>G	noncoding	Benign
8	143334758	T	C	T143334758C	TOP1MT	NM_052963.3(TOP1MT):c.104A>G:p.Gln35Arg	coding	Benign
8	143429956	G	A	G143429956A	MAFA	NM_201589.4(MAFA):c.451C>T:p.His151Tyr	coding	Benign
8	143612720	G	C	G143612720C	GFUS	NM_003313.4(GFUS):c.*190C>G	noncoding	Benign
8	143612883	G	A	G143612883A	GFUS	NM_003313.4(GFUS):c.*27C>T	noncoding	Benign
8	143613006	C	T	C143613006T	GFUS	NM_003313.4(GFUS):c.911-41G>A	noncoding	Benign
8	143613148	G	A	G143613148A	GFUS	NM_003313.4(GFUS):c.910+48C>T	noncoding	Benign
8	143613329	C	A	C143613329A	GFUS	NM_003313.4(GFUS):c.811-34G>T	noncoding	Benign
8	143613396	C	T	C143613396T	GFUS	NM_003313.4(GFUS):c.811-101G>A	noncoding	Benign
8	143613697	A	G	A143613697G	GFUS	NM_003313.4(GFUS):c.730+54T>C	noncoding	Benign
8	143614033	T	C	T143614033C	GFUS	NM_003313.4(GFUS):c.663+131A>G	noncoding	Benign
8	143614871	A	G	A143614871G	GFUS	NM_003313.4(GFUS):c.306T>C:p.Phe102=	coding	Benign
8	143616361	G	A	G143616361A	GFUS	NM_003313.4(GFUS):c.147-141C>T	noncoding	Benign
8	143726756	C	T	C143726756T	FAM83H	NM_198488.5(FAM83H):c.2705G>A:p.Gly902Glu	coding	Benign
8	143727098	C	T	C143727098T	FAM83H	NM_198488.5(FAM83H):c.2363G>A:p.Ser788Asn	coding	Benign
8	143727546	T	A	T143727546A	FAM83H	NM_198488.5(FAM83H):c.1915A>T:p.Lys639Ter	coding	Pathogenic
8	143727633	C	A	C143727633A	FAM83H	NM_198488.5(FAM83H):c.1828G>T:p.Glu610Ter	coding	Pathogenic
8	143728098	G	A	G143728098A	FAM83H	NM_198488.5(FAM83H):c.1363C>T:p.Gln455Ter	coding	Pathogenic
8	143728131	G	A	G143728131A	FAM83H	NM_198488.5(FAM83H):c.1330C>T:p.Gln444Ter	coding	Pathogenic
8	143728152	G	A	G143728152A	FAM83H	NM_198488.5(FAM83H):c.1309C>T:p.His437Tyr	coding	Benign
8	143728800	C	G	C143728800G	FAM83H	NM_198488.5(FAM83H):c.738-77G>C	noncoding	Benign
8	143729108	G	A	G143729108A	FAM83H	NM_198488.5(FAM83H):c.613-17C>T	noncoding	Benign
8	143729461	C	G	C143729461G	FAM83H	NM_198488.5(FAM83H):c.448-138G>C	noncoding	Benign
8	143729583	T	A	T143729583A	FAM83H	NM_198488.5(FAM83H):c.448-260A>T	noncoding	Benign
8	143730764	G	A	G143730764A	FAM83H	NM_198488.5(FAM83H):c.-15-167C>T	noncoding	Benign
8	143813383	G	A	G143813383A	SCRIB	NM_182706.5(SCRIB):c.504-9C>T	noncoding	Benign
8	143816729	C	T	C143816729T	PUF60	NM_078480.3(PUF60):c.1471G>A:p.Gly491Arg	coding	Pathogenic/Likely_pathogenic
8	143816933	G	A	G143816933A	PUF60	NM_078480.3(PUF60):c.1357C>T:p.Gln453Ter	coding	Pathogenic
8	143817352	G	A	G143817352A	PUF60	NM_078480.3(PUF60):c.1123C>T:p.Gln375Ter	coding	Pathogenic
8	143817966	G	C	G143817966C	PUF60	NM_078480.3(PUF60):c.713C>G:p.Ser238Ter	coding	Pathogenic
8	143818051	G	A	G143818051A	PUF60	NM_078480.3(PUF60):c.628C>T:p.Gln210Ter	coding	Pathogenic
8	143818138	G	A	G143818138A	PUF60	NM_078480.3(PUF60):c.603+55C>T	noncoding	Benign
8	143821623	G	A	G143821623A	PUF60	NM_078480.3(PUF60):c.271C>T:p.Gln91Ter	coding	Pathogenic
8	143821687	C	T	C143821687T	PUF60	NM_078480.3(PUF60):c.208-1G>A	coding	Pathogenic
8	143829279	C	T	C143829279T	PUF60	NM_078480.3(PUF60):c.24+1G>A	noncoding	Pathogenic/Likely_pathogenic
8	143916715	G	T	G143916715T	PLEC	NM_201384.3(PLEC):c.13106C>A:p.Ser4369Ter	coding	Pathogenic
8	143917403	G	A	G143917403A	PLEC	NM_201384.3(PLEC):c.12418C>T:p.Arg4140Ter	coding	Pathogenic
8	143919248	G	A	G143919248A	PLEC	NM_201384.3(PLEC):c.10573C>T:p.Gln3525Ter	coding	Pathogenic
8	143919896	G	A	G143919896A	PLEC	NM_201384.3(PLEC):c.9925C>T:p.Arg3309Cys	coding	Benign/Likely_benign
8	143920799	G	A	G143920799A	PLEC	NM_201384.3(PLEC):c.9022C>T:p.Arg3008Ter	coding	Pathogenic
8	143921672	G	A	G143921672A	PLEC	NM_201384.3(PLEC):c.8149C>T:p.Gln2717Ter	coding	Pathogenic/Likely_pathogenic
8	143921802	C	T	C143921802T	PLEC	NM_201384.3(PLEC):c.8019G>A:p.Ala2673=	coding	Benign
8	143922488	G	A	G143922488A	PLEC	NM_201384.3(PLEC):c.7425+16C>T	noncoding	Benign/Likely_benign
8	143922573	G	A	G143922573A	PLEC	NM_201384.3(PLEC):c.7356C>T:p.Ile2452=	coding	Benign
8	143922593	C	A	C143922593A	PLEC	NM_201384.3(PLEC):c.7336G>T:p.Glu2446Ter	coding	Pathogenic
8	143922851	C	A	C143922851A	PLEC	NM_201384.3(PLEC):c.7078G>T:p.Glu2360Ter	coding	Pathogenic
8	143922900	C	T	C143922900T	PLEC	NM_201384.3(PLEC):c.7029G>A:p.Ala2343=	coding	Benign/Likely_benign
8	143922959	G	A	G143922959A	PLEC	NM_201384.3(PLEC):c.6970C>T:p.Arg2324Ter	coding	Pathogenic
8	143923265	G	A	G143923265A	PLEC	NM_201384.3(PLEC):c.6664C>T:p.Gln2222Ter	coding	Pathogenic
8	143924157	C	G	C143924157G	PLEC	NM_201384.3(PLEC):c.5772G>C:p.Glu1924Asp	coding	Benign
8	143924421	C	T	C143924421T	PLEC	NM_201384.3(PLEC):c.5508G>A:p.Ala1836=	coding	Benign/Likely_benign
8	143924759	G	A	G143924759A	PLEC	NM_201384.3(PLEC):c.5170C>T:p.Gln1724Ter	coding	Pathogenic
8	143925069	G	A	G143925069A	PLEC	NM_201384.3(PLEC):c.4860C>T:p.Ala1620=	coding	Benign/Likely_benign
8	143925323	G	A	G143925323A	PLEC	NM_201384.3(PLEC):c.4606C>T:p.Gln1536Ter	coding	Pathogenic
8	143925461	G	A	G143925461A	PLEC	NM_201384.3(PLEC):c.4468C>T:p.Arg1490Ter	coding	Pathogenic
8	143925919	G	A	G143925919A	PLEC	NM_201384.3(PLEC):c.4045-35C>T	noncoding	Benign
8	143926747	G	A	G143926747A	PLEC	NM_201384.3(PLEC):c.4044+37C>T	noncoding	Benign
8	143926768	G	A	G143926768A	PLEC	NM_201384.3(PLEC):c.4044+16C>T	noncoding	Benign/Likely_benign
8	143926886	T	C	T143926886C	PLEC	NM_201384.3(PLEC):c.3946-4A>G	noncoding	Benign
8	143927048	G	A	G143927048A	PLEC	NM_201384.3(PLEC):c.3874C>T:p.Gln1292Ter	coding	Pathogenic
8	143927072	G	A	G143927072A	PLEC	NM_201384.3(PLEC):c.3850C>T:p.Leu1284Phe	coding	Pathogenic
8	143927353	C	T	C143927353T	PLEC	NM_201384.3(PLEC):c.3757-18G>A	noncoding	Benign
8	143927397	G	A	G143927397A	PLEC	NM_201384.3(PLEC):c.3756+13C>T	noncoding	Benign
8	143927433	G	T	G143927433T	PLEC	NM_201384.3(PLEC):c.3733C>A:p.Arg1245=	coding	Benign/Likely_benign
8	143927772	G	A	G143927772A	PLEC	NM_201384.3(PLEC):c.3400-6C>T	noncoding	Benign
8	143927808	C	T	C143927808T	PLEC	NM_201384.3(PLEC):c.3400-42G>A	noncoding	Benign
8	143929668	C	A	C143929668A	PLEC	NM_201384.3(PLEC):c.2901G>T:p.Gln967His	coding	Benign
8	143929874	C	A	C143929874A	PLEC	NM_201384.3(PLEC):c.2740-45G>T	noncoding	Benign/Likely_benign
8	143929949	C	T	C143929949T	PLEC	NM_201384.3(PLEC):c.2726G>A:p.Trp909Ter	coding	Pathogenic
8	143930126	T	A	T143930126A	PLEC	NM_201384.3(PLEC):c.2612+18A>T	noncoding	Benign
8	143930169	G	A	G143930169A	PLEC	NM_201384.3(PLEC):c.2587C>T:p.Gln863Ter	coding	Pathogenic
8	143930253	G	A	G143930253A	PLEC	NM_201384.3(PLEC):c.2503C>T:p.Gln835Ter	coding	Pathogenic
8	143930386	C	A	C143930386A	PLEC	NM_201384.3(PLEC):c.2455G>T:p.Glu819Ter	coding	Pathogenic
8	143931528	C	T	C143931528T	PLEC	NM_201384.3(PLEC):c.2304+6G>A	noncoding	Benign
8	143932004	C	T	C143932004T	PLEC	NM_201384.3(PLEC):c.2111G>A:p.Trp704Ter	coding	Pathogenic
8	143932052	G	A	G143932052A	PLEC	NM_201384.3(PLEC):c.2083-20C>T	noncoding	Benign/Likely_benign
8	143932576	G	A	G143932576A	PLEC	NM_201384.3(PLEC):c.1816-15C>T	noncoding	Benign
8	143932780	C	T	C143932780T	PLEC	NM_201384.3(PLEC):c.1737+13G>A	noncoding	Benign
8	143934106	C	T	C143934106T	PLEC	NM_201384.3(PLEC):c.1170-15G>A	noncoding	Benign
8	143934528	C	A	C143934528A	PLEC	NM_201384.3(PLEC):c.1042-83G>T	noncoding	Benign
8	143934880	A	G	A143934880G	PLEC	NM_201384.3(PLEC):c.875T>C:p.Leu292Pro	coding	Pathogenic
8	143934962	G	C	G143934962C	PLEC	NM_201384.3(PLEC):c.826-33C>G	noncoding	Benign
8	143935836	G	A	G143935836A	PLEC	NM_201384.3(PLEC):c.602+12C>T	noncoding	Benign/Likely_benign
8	143935838	G	A	G143935838A	PLEC	NM_201384.3(PLEC):c.602+10C>T	noncoding	Benign
8	143936155	G	A	G143936155A	PLEC	NM_201384.3(PLEC):c.436-141C>T	noncoding	Benign
8	143936312	G	A	G143936312A	PLEC	NM_201384.3(PLEC):c.436-298C>T	noncoding	Benign
8	143938518	G	A	G143938518A	PLEC	NM_201384.3(PLEC):c.174+113C>T	noncoding	Benign
8	143938581	G	A	G143938581A	PLEC	NM_201384.3(PLEC):c.174+50C>T	noncoding	Benign
8	143939441	G	A	G143939441A	PLEC	NM_201384.3(PLEC):c.21C>T:p.Arg7=	coding	Benign
8	143942489	G	C	G143942489C	PLEC	NM_201378.4(PLEC):c.71-3797C>G	coding	Benign/Likely_benign
8	143943769	C	A	C143943769A	PLEC	NM_201378.4(PLEC):c.71-5077G>T	noncoding	Benign/Likely_benign
8	143949955	T	G	T143949955G	PLEC	NM_201378.4(PLEC):c.71-11263A>C	noncoding	Benign
8	143950204	G	A	G143950204A	PLEC	NM_201378.4(PLEC):c.71-11512C>T	coding	Benign/Likely_benign
8	143950410	G	A	G143950410A	PLEC	NM_201378.4(PLEC):c.71-11718C>T	coding	Benign/Likely_benign
8	143950615	C	T	C143950615T	PLEC	NM_201378.4(PLEC):c.71-11923G>A	coding	Benign
8	143973125	C	T	C143973125T	PLEC	NM_201378.4(PLEC):c.70+278G>A	noncoding	Benign
8	143976626	G	C	G143976626C	PLEC	NM_000445.5(PLEC):c.-7+77C>G	noncoding	Benign
8	143976946	G	T	G143976946T	PLEC	Single_allele	noncoding	Benign
8	144060021	G	C	G144060021C	OPLAH	NM_017570.5(OPLAH):c.12C>G:p.Pro4=	coding	Benign
8	144082820	G	T	G144082820T	GPAA1	NM_003801.4(GPAA1):c.74+16G>T	noncoding	Benign
8	144083160	G	A	G144083160A	GPAA1	NM_003801.4(GPAA1):c.111G>A:p.Leu37=	coding	Benign
8	144084160	C	T	C144084160T	GPAA1	NM_003801.4(GPAA1):c.643C>T:p.Arg215Ter	coding	Pathogenic
8	144084318	G	A	G144084318A	GPAA1	NM_003801.4(GPAA1):c.801G>A:p.Thr267=	coding	Benign
8	144084448	G	A	G144084448A	GPAA1	NM_003801.4(GPAA1):c.849G>A:p.Pro283=	coding	Benign
8	144084457	C	T	C144084457T	GPAA1	NM_003801.4(GPAA1):c.858C>T:p.Gly286=	coding	Benign
8	144084619	C	G	C144084619G	GPAA1	NM_003801.4(GPAA1):c.1010+10C>G	noncoding	Benign
8	144084824	C	T	C144084824T	GPAA1	NM_003801.4(GPAA1):c.1113C>T:p.Ile371=	coding	Benign
8	144085105	C	T	C144085105T	GPAA1	NM_003801.4(GPAA1):c.1227C>T:p.Ala409=	coding	Benign
8	144085569	A	G	A144085569G	GPAA1	NM_003801.4(GPAA1):c.1452-4A>G	noncoding	Benign
8	144085746	A	G	A144085746G	GPAA1	NM_003801.4(GPAA1):c.1622+3A>G	noncoding	Benign
8	144085882	G	A	G144085882A	GPAA1	NM_003801.4(GPAA1):c.1623G>A:p.Arg541=	coding	Benign
8	144086085	C	T	C144086085T	GPAA1	NM_003801.4(GPAA1):c.1826C>T:p.Pro609Leu	coding	Pathogenic
8	144094920	G	T	G144094920T	CYC1	Single_allele	noncoding	Benign
8	144094957	A	G	A144094957G	CYC1	Single_allele	noncoding	Benign
8	144095929	A	G	A144095929G	CYC1	NM_001916.5(CYC1):c.226A>G:p.Met76Val	coding	Benign
8	144095930	T	C	T144095930C	CYC1	NM_001916.5(CYC1):c.227T>C:p.Met76Thr	coding	Benign/Likely_benign
8	144097007	T	C	T144097007C	CYC1	NM_001916.5(CYC1):c.773-27T>C	noncoding	Benign
8	144097141	G	A	G144097141A	CYC1	NM_001916.5(CYC1):c.873+7G>A	noncoding	Benign/Likely_benign
8	144097549	A	G	A144097549G	CYC1	Single_allele	noncoding	Benign
8	144097552	G	A	G144097552A	CYC1	Single_allele	noncoding	Benign
8	144097557	C	G	C144097557G	CYC1	Single_allele	noncoding	Benign
8	144103704	G	A	G144103704A	SHARPIN	NM_030974.4(SHARPIN):c.50C>T:p.Ser17Phe	coding	Benign
8	144316599	G	A	G144316599A	DGAT1	NM_012079.6(DGAT1):c.1422C>T:p.His474=	coding	Benign
8	144316686	G	A	G144316686A	DGAT1	NM_012079.6(DGAT1):c.1335C>T:p.Gly445=	coding	Benign
8	144317087	G	A	G144317087A	DGAT1	NM_012079.6(DGAT1):c.1183C>T:p.Arg395Ter	coding	Pathogenic
8	144317121	G	A	G144317121A	DGAT1	NM_012079.6(DGAT1):c.1161-12C>T	noncoding	Benign
8	144317333	C	T	C144317333T	DGAT1	NM_012079.6(DGAT1):c.1094G>A:p.Trp365Ter	coding	Pathogenic
8	144317810	G	A	G144317810A	DGAT1	NM_012079.6(DGAT1):c.868C>T:p.Gln290Ter	coding	Pathogenic
8	144317825	G	A	G144317825A	DGAT1	NM_012079.6(DGAT1):c.856-3C>T	noncoding	Benign
8	144317977	C	T	C144317977T	DGAT1	NM_012079.6(DGAT1):c.792G>A:p.Glu264=	coding	Benign
8	144317980	G	A	G144317980A	DGAT1	NM_012079.6(DGAT1):c.789C>T:p.Tyr263=	coding	Benign
8	144318653	G	A	G144318653A	DGAT1	NM_012079.6(DGAT1):c.468+46C>T	noncoding	Benign
8	144318702	C	T	C144318702T	DGAT1	NM_012079.6(DGAT1):c.465G>A:p.Ala155=	coding	Benign
8	144318712	T	C	T144318712C	DGAT1	NM_012079.6(DGAT1):c.455A>G:p.Lys152Arg	coding	Benign/Likely_benign
8	144318735	A	G	A144318735G	DGAT1	NM_012079.6(DGAT1):c.432T>C:p.Ala144=	coding	Benign
8	144318934	G	T	G144318934T	DGAT1	NM_012079.6(DGAT1):c.330-14C>A	noncoding	Benign
8	144321057	G	A	G144321057A	DGAT1	NM_012079.6(DGAT1):c.288+264C>T	noncoding	Benign
8	144326419	G	A	G144326419A	DGAT1	NM_012079.6(DGAT1):c.200+18C>T	noncoding	Benign
8	144326616	G	A	G144326616A	DGAT1	NM_012079.6(DGAT1):c.21C>T:p.Ser7=	coding	Benign
8	144327213	A	C	A144327213C	DGAT1	Single_allele	noncoding	Benign
8	144358634	C	A	C144358634A	SLC52A2	NM_001363118.2(SLC52A2):c.-542C>A	noncoding	Benign
8	144359080	A	G	A144359080G	SLC52A2	NM_001363118.2(SLC52A2):c.-111+15A>G	noncoding	Benign
8	144359647	C	T	C144359647T	SLC52A2	NM_001363118.2(SLC52A2):c.155C>T:p.Ser52Phe	coding	Pathogenic
8	144360085	G	A	G144360085A	SLC52A2	NM_001363118.2(SLC52A2):c.593G>A:p.Trp198Ter	coding	Pathogenic
8	144360188	C	T	C144360188T	SLC52A2	NM_001363118.2(SLC52A2):c.696C>T:p.Gly232=	coding	Benign
8	144360380	C	A	C144360380A	SLC52A2	NM_001363118.2(SLC52A2):c.888C>A:p.Ala296=	coding	Benign
8	144360538	A	G	A144360538G	SLC52A2	NM_001363118.2(SLC52A2):c.1001+45A>G	noncoding	Benign
8	144360653	G	T	G144360653T	SLC52A2	NM_001363118.2(SLC52A2):c.1065G>T:p.Ala355=	coding	Benign/Likely_benign
8	144360922	C	T	C144360922T	SLC52A2	NM_001363118.2(SLC52A2):c.1245C>T:p.Gly415=	coding	Benign/Likely_benign
8	144360977	C	T	C144360977T	SLC52A2	NM_001363118.2(SLC52A2):c.1300C>T:p.His434Tyr	coding	Benign/Likely_benign
8	144361071	A	G	A144361071G	SLC52A2	NM_001363118.2(SLC52A2):c.*56A>G	noncoding	Benign
8	144412811	C	T	C144412811T	SLC39A4	NM_130849.4(SLC39A4):c.1763G>A:p.Trp588Ter	coding	Pathogenic
8	144412945	C	T	C144412945T	SLC39A4	NM_130849.4(SLC39A4):c.1629G>A:p.Gly543=	coding	Benign
8	144413296	C	T	C144413296T	SLC39A4	NM_130849.4(SLC39A4):c.1568G>A:p.Trp523Ter	coding	Pathogenic
8	144413427	C	A	C144413427A	SLC39A4	NM_130849.4(SLC39A4):c.1475-38G>T	noncoding	Benign
8	144413812	G	A	G144413812A	SLC39A4	NM_130849.4(SLC39A4):c.1357C>T:p.Gln453Ter	coding	Pathogenic
8	144413861	G	T	G144413861T	SLC39A4	NM_130849.4(SLC39A4):c.1308C>A:p.Cys436Ter	coding	Pathogenic
8	144413936	G	C	G144413936C	SLC39A4	NM_130849.4(SLC39A4):c.1287+22C>G	noncoding	Benign
8	144414042	C	T	C144414042T	SLC39A4	NM_130849.4(SLC39A4):c.1203G>A:p.Trp401Ter	coding	Pathogenic
8	144414043	C	T	C144414043T	SLC39A4	NM_130849.4(SLC39A4):c.1202G>A:p.Trp401Ter	coding	Pathogenic
8	144414252	G	A	G144414252A	SLC39A4	NM_130849.4(SLC39A4):c.1149+10C>T	noncoding	Benign
8	144414270	T	C	T144414270C	SLC39A4	NM_130849.4(SLC39A4):c.1141A>G:p.Thr381Ala	coding	Benign/Likely_benign
8	144414848	G	A	G144414848A	SLC39A4	NM_130849.4(SLC39A4):c.853C>T:p.Gln285Ter	coding	Pathogenic
8	144415104	G	T	G144415104T	SLC39A4	NM_130849.4(SLC39A4):c.674C>A:p.Ser225Ter	coding	Pathogenic
8	144415248	C	A	C144415248A	SLC39A4	NM_130849.4(SLC39A4):c.646G>T:p.Glu216Ter	coding	Pathogenic
8	144415438	C	T	C144415438T	SLC39A4	NM_130849.4(SLC39A4):c.475-19G>A	noncoding	Pathogenic
8	144415975	G	T	G144415975T	SLC39A4	NM_130849.4(SLC39A4):c.309C>A:p.Tyr103Ter	coding	Pathogenic
8	144416180	T	G	T144416180G	SLC39A4	NM_130849.4(SLC39A4):c.193-89A>C	coding	Benign
8	144416204	A	G	A144416204G	SLC39A4	NM_130849.4(SLC39A4):c.193-113T>C	coding	Benign
8	144416579	C	T	C144416579T	SLC39A4	NM_130849.4(SLC39A4):c.192+19G>A	noncoding	Pathogenic
8	144416640	C	T	C144416640T	SLC39A4	NM_130849.4(SLC39A4):c.150G>A:p.Thr50=	coding	Benign
8	144416727	C	G	C144416727G	SLC39A4	NM_130849.4(SLC39A4):c.63G>C:p.Thr21=	coding	Benign/Likely_benign
8	144429328	C	T	C144429328T	TONSL	NM_013432.5(TONSL):c.3952G>A:p.Val1318Ile	coding	Benign
8	144430433	G	A	G144430433A	TONSL	NM_013432.5(TONSL):c.3914C>T:p.Pro1305Leu	coding	Benign
8	144430477	G	A	G144430477A	TONSL	NM_013432.5(TONSL):c.3870C>T:p.Ser1290=	coding	Benign
8	144430520	G	A	G144430520A	TONSL	NM_013432.5(TONSL):c.3827C>T:p.Pro1276Leu	coding	Benign
8	144432378	G	A	G144432378A	TONSL	NM_013432.5(TONSL):c.3642C>T:p.Pro1214=	coding	Benign
8	144432444	C	T	C144432444T	TONSL	NM_013432.5(TONSL):c.3576G>A:p.Lys1192=	coding	Benign
8	144433596	G	A	G144433596A	TONSL	NM_013432.5(TONSL):c.3551C>T:p.Ala1184Val	coding	Benign
8	144433627	A	G	A144433627G	TONSL	NM_013432.5(TONSL):c.3520T>C:p.Phe1174Leu	coding	Benign
8	144433633	T	C	T144433633C	TONSL	NM_013432.5(TONSL):c.3514A>G:p.Ser1172Gly	coding	Benign
8	144433634	G	A	G144433634A	TONSL	NM_013432.5(TONSL):c.3513C>T:p.Pro1171=	coding	Benign
8	144433685	G	A	G144433685A	TONSL	NM_013432.5(TONSL):c.3462C>T:p.His1154=	coding	Benign
8	144433694	G	A	G144433694A	TONSL	NM_013432.5(TONSL):c.3453C>T:p.Ser1151=	coding	Benign
8	144433765	G	A	G144433765A	TONSL	NM_013432.5(TONSL):c.3388-6C>T	noncoding	Benign
8	144434170	G	A	G144434170A	TONSL	NM_013432.5(TONSL):c.3195C>T:p.Ala1065=	coding	Benign
8	144434254	G	A	G144434254A	TONSL	NM_013432.5(TONSL):c.3111C>T:p.Ala1037=	coding	Benign
8	144434997	C	T	C144434997T	TONSL	NM_013432.5(TONSL):c.3006+20G>A	noncoding	Benign
8	144435107	G	A	G144435107A	TONSL	NM_013432.5(TONSL):c.2916C>T:p.Cys972=	coding	Benign
8	144435182	G	A	G144435182A	TONSL	NM_013432.5(TONSL):c.2853-12C>T	coding	Benign
8	144435450	G	A	G144435450A	TONSL	NM_013432.5(TONSL):c.2852+24C>T	noncoding	Benign
8	144435520	G	A	G144435520A	TONSL	NM_013432.5(TONSL):c.2806C>T:p.Arg936Ter	coding	Pathogenic
8	144435545	C	T	C144435545T	TONSL	NM_013432.5(TONSL):c.2781G>A:p.Pro927=	coding	Benign
8	144435640	C	T	C144435640T	TONSL	NM_013432.5(TONSL):c.2775+18G>A	noncoding	Benign
8	144435646	C	G	C144435646G	TONSL	NM_013432.5(TONSL):c.2775+12G>C	noncoding	Benign
8	144435810	G	A	G144435810A	TONSL	NM_013432.5(TONSL):c.2623C>T:p.Arg875Ter	coding	Pathogenic
8	144435838	C	T	C144435838T	TONSL	NM_013432.5(TONSL):c.2595G>A:p.Ser865=	coding	Benign
8	144435937	G	A	G144435937A	TONSL	NM_013432.5(TONSL):c.2496C>T:p.Ala832=	coding	Benign
8	144436164	G	C	G144436164C	TONSL	NM_013432.5(TONSL):c.2269C>G:p.Gln757Glu	coding	Benign
8	144436292	G	A	G144436292A	TONSL	NM_013432.5(TONSL):c.2141C>T:p.Ala714Val	coding	Benign
8	144436437	G	A	G144436437A	TONSL	NM_013432.5(TONSL):c.2015-19C>T	noncoding	Benign
8	144436539	C	A	C144436539A	TONSL	NM_013432.5(TONSL):c.2014+19G>T	noncoding	Benign
8	144436543	G	C	G144436543C	TONSL	NM_013432.5(TONSL):c.2014+15C>G	noncoding	Benign
8	144436544	G	A	G144436544A	TONSL	NM_013432.5(TONSL):c.2014+14C>T	noncoding	Benign
8	144436789	G	T	G144436789T	TONSL	NM_013432.5(TONSL):c.1858C>A:p.Arg620=	coding	Benign
8	144436880	G	A	G144436880A	TONSL	NM_013432.5(TONSL):c.1767C>T:p.Asp589=	coding	Benign
8	144438431	A	G	A144438431G	TONSL	NM_013432.5(TONSL):c.1653+40T>C	noncoding	Benign
8	144438546	G	A	G144438546A	TONSL	NM_013432.5(TONSL):c.1578C>T:p.Asn526=	coding	Benign
8	144438635	G	A	G144438635A	TONSL	NM_013432.5(TONSL):c.1563+18C>T	noncoding	Benign
8	144440024	C	T	C144440024T	TONSL	NM_013432.5(TONSL):c.1477G>A:p.Gly493Ser	coding	Benign
8	144440043	G	A	G144440043A	TONSL	NM_013432.5(TONSL):c.1458C>T:p.Gly486=	coding	Benign
8	144440088	C	T	C144440088T	TONSL	NM_013432.5(TONSL):c.1413G>A:p.Ala471=	coding	Benign
8	144440133	T	C	T144440133C	TONSL	NM_013432.5(TONSL):c.1368A>G:p.Leu456=	coding	Benign
8	144440254	A	G	A144440254G	TONSL	NM_013432.5(TONSL):c.1291-44T>C	noncoding	Benign
8	144440316	C	T	C144440316T	TONSL	NM_013432.5(TONSL):c.1290+35G>A	noncoding	Benign
8	144440378	G	A	G144440378A	TONSL	NM_013432.5(TONSL):c.1263C>T:p.Ala421=	coding	Benign
8	144440393	T	C	T144440393C	TONSL	NM_013432.5(TONSL):c.1248A>G:p.Lys416=	coding	Benign
8	144440450	T	C	T144440450C	TONSL	NM_013432.5(TONSL):c.1191A>G:p.Ala397=	coding	Benign
8	144440733	G	A	G144440733A	TONSL	NM_013432.5(TONSL):c.1149C>T:p.Ser383=	coding	Benign
8	144440747	G	A	G144440747A	TONSL	NM_013432.5(TONSL):c.1135C>T:p.Leu379=	coding	Benign
8	144441008	C	T	C144441008T	TONSL	NM_013432.5(TONSL):c.969G>A:p.Lys323=	coding	Benign
8	144441092	C	T	C144441092T	TONSL	NM_013432.5(TONSL):c.885G>A:p.Leu295=	coding	Benign
8	144442022	C	G	C144442022G	TONSL	NM_013432.5(TONSL):c.865+15G>C	noncoding	Benign
8	144442115	G	A	G144442115A	TONSL	NM_013432.5(TONSL):c.787C>T:p.Arg263Ter	coding	Pathogenic
8	144442265	G	A	G144442265A	TONSL	NM_013432.5(TONSL):c.726C>T:p.Ser242=	coding	Benign
8	144442343	G	A	G144442343A	TONSL	NM_013432.5(TONSL):c.648C>T:p.Gly216=	coding	Benign
8	144442659	G	A	G144442659A	TONSL	NM_013432.5(TONSL):c.578+18C>T	noncoding	Benign
8	144442709	G	A	G144442709A	TONSL	NM_013432.5(TONSL):c.546C>T:p.Asn182=	coding	Benign
8	144443098	C	T	C144443098T	TONSL	NM_013432.5(TONSL):c.448+40G>A	noncoding	Benign
8	144444293	G	C	G144444293C	TONSL	NM_013432.5(TONSL):c.26-18C>G	noncoding	Benign
8	144444405	C	G	C144444405G	TONSL	NM_013432.5(TONSL):c.10G>C:p.Glu4Gln	coding	Benign
8	144474811	C	T	C144474811T	FOXH1	NM_003923.3(FOXH1):c.525G>A:p.Gly175=	coding	Benign
8	144475291	G	A	G144475291A	FOXH1	NM_003923.3(FOXH1):c.175-30C>T	noncoding	Benign
8	144475412	A	G	A144475412G	FOXH1	NM_003923.3(FOXH1):c.175-151T>C	noncoding	Benign
8	144476624	T	C	T144476624C	FOXH1	Single_allele	noncoding	Benign
8	144511449	G	A	G144511449A	RECQL4	NM_004260.4(RECQL4):c.3609C>T:p.Leu1203=	coding	Benign/Likely_benign
8	144511575	C	T	C144511575T	RECQL4	NM_004260.4(RECQL4):c.3503-20G>A	noncoding	Benign/Likely_benign
8	144511657	C	T	C144511657T	RECQL4	NM_004260.4(RECQL4):c.3502+24G>A	noncoding	Benign
8	144511748	C	G	C144511748G	RECQL4	NM_004260.4(RECQL4):c.3435G>C:p.Gln1145His	coding	Benign/Likely_benign
8	144511800	A	G	A144511800G	RECQL4	NM_004260.4(RECQL4):c.3394-11T>C	noncoding	Benign/Likely_benign
8	144511970	C	A	C144511970A	RECQL4	NM_004260.4(RECQL4):c.3334G>T:p.Glu1112Ter	coding	Pathogenic
8	144511973	C	A	C144511973A	RECQL4	NM_004260.4(RECQL4):c.3331G>T:p.Glu1111Ter	coding	Pathogenic
8	144511983	G	C	G144511983C	RECQL4	NM_004260.4(RECQL4):c.3321C>G:p.Tyr1107Ter	coding	Pathogenic
8	144512033	G	A	G144512033A	RECQL4	NM_004260.4(RECQL4):c.3271C>T:p.Gln1091Ter	coding	Pathogenic/Likely_pathogenic
8	144512107	G	A	G144512107A	RECQL4	NM_004260.4(RECQL4):c.3236+37C>T	noncoding	Benign
8	144512157	G	A	G144512157A	RECQL4	NM_004260.4(RECQL4):c.3223C>T:p.Gln1075Ter	coding	Pathogenic
8	144512412	C	T	C144512412T	RECQL4	NM_004260.4(RECQL4):c.3035G>A:p.Trp1012Ter	coding	Pathogenic
8	144512653	G	A	G144512653A	RECQL4	NM_004260.4(RECQL4):c.2874C>T:p.Ala958=	coding	Benign
8	144512710	C	T	C144512710T	RECQL4	NM_004260.4(RECQL4):c.2817G>A:p.Ala939=	coding	Benign/Likely_benign
8	144512878	A	G	A144512878G	RECQL4	NM_004260.4(RECQL4):c.2724T>C:p.Leu908=	coding	Benign/Likely_benign
8	144512883	G	A	G144512883A	RECQL4	NM_004260.4(RECQL4):c.2719C>T:p.Gln907Ter	coding	Pathogenic
8	144512964	G	A	G144512964A	RECQL4	NM_004260.4(RECQL4):c.2638C>T:p.Gln880Ter	coding	Pathogenic
8	144512971	G	C	G144512971C	RECQL4	NM_004260.4(RECQL4):c.2631C>G:p.Tyr877Ter	coding	Pathogenic
8	144513154	C	T	C144513154T	RECQL4	NM_004260.4(RECQL4):c.2464-16G>A	noncoding	Benign
8	144513155	A	G	A144513155G	RECQL4	NM_004260.4(RECQL4):c.2464-17T>C	noncoding	Benign
8	144513220	G	A	G144513220A	RECQL4	NM_004260.4(RECQL4):c.2461C>T:p.Gln821Ter	coding	Pathogenic
8	144513283	G	A	G144513283A	RECQL4	NM_004260.4(RECQL4):c.2398C>T:p.Gln800Ter	coding	Pathogenic
8	144513303	G	A	G144513303A	RECQL4	NM_004260.4(RECQL4):c.2378C>T:p.Pro793Leu	coding	Benign
8	144513587	C	T	C144513587T	RECQL4	NM_004260.4(RECQL4):c.2184G>A:p.Trp728Ter	coding	Pathogenic
8	144513653	G	C	G144513653C	RECQL4	NM_004260.4(RECQL4):c.2118C>G:p.Tyr706Ter	coding	Pathogenic
8	144513679	G	A	G144513679A	RECQL4	NM_004260.4(RECQL4):c.2092C>T:p.Gln698Ter	coding	Pathogenic
8	144513688	T	A	T144513688A	RECQL4	NM_004260.4(RECQL4):c.2083A>T:p.Lys695Ter	coding	Pathogenic
8	144513694	G	A	G144513694A	RECQL4	NM_004260.4(RECQL4):c.2077C>T:p.Gln693Ter	coding	Pathogenic
8	144513750	G	T	G144513750T	RECQL4	NM_004260.4(RECQL4):c.2059-38C>A	noncoding	Benign
8	144514459	C	A	C144514459A	RECQL4	NM_004260.4(RECQL4):c.1687G>T:p.Glu563Ter	coding	Pathogenic
8	144514920	G	A	G144514920A	RECQL4	NM_004260.4(RECQL4):c.1620+16C>T	noncoding	Benign
8	144515126	C	G	C144515126G	RECQL4	NM_004260.4(RECQL4):c.1483+24G>C	noncoding	Benign
8	144515323	C	T	C144515323T	RECQL4	NM_004260.4(RECQL4):c.1390+3G>A	noncoding	Benign/Likely_benign
8	144515324	A	G	A144515324G	RECQL4	NM_004260.4(RECQL4):c.1390+2T>C	noncoding	Pathogenic
8	144515860	C	A	C144515860A	RECQL4	NM_004260.4(RECQL4):c.1162G>T:p.Glu388Ter	coding	Pathogenic
8	144516041	G	A	G144516041A	RECQL4	NM_004260.4(RECQL4):c.1078C>T:p.Gln360Ter	coding	Pathogenic
8	144516392	G	A	G144516392A	RECQL4	NM_004260.4(RECQL4):c.727C>T:p.Gln243Ter	coding	Pathogenic
8	144516449	C	A	C144516449A	RECQL4	NM_004260.4(RECQL4):c.670G>T:p.Glu224Ter	coding	Pathogenic
8	144516542	G	A	G144516542A	RECQL4	NM_004260.4(RECQL4):c.577C>T:p.Arg193Ter	coding	Pathogenic
8	144516593	G	A	G144516593A	RECQL4	NM_004260.4(RECQL4):c.526C>T:p.Gln176Ter	coding	Pathogenic
8	144517095	C	T	C144517095T	RECQL4	NM_004260.4(RECQL4):c.309G>A:p.Pro103=	coding	Benign/Likely_benign
8	144517332	C	A	C144517332A	RECQL4	NM_004260.4(RECQL4):c.213+82G>T	noncoding	Benign
8	144517436	G	T	G144517436T	RECQL4	NM_004260.4(RECQL4):c.191C>A:p.Ser64Ter	coding	Pathogenic
8	144517501	G	C	G144517501C	RECQL4	NM_004260.4(RECQL4):c.126C>G:p.Tyr42Ter	coding	Pathogenic
8	144517730	G	A	G144517730A	RECQL4	NM_004260.4(RECQL4):c.55C>T:p.Arg19Ter	coding	Pathogenic
8	144517743	C	T	C144517743T	RECQL4	NM_004260.4(RECQL4):c.42G>A:p.Trp14Ter	coding	Pathogenic
8	144517790	G	A	G144517790A	RECQL4	NM_004260.4(RECQL4):c.-6C>T	noncoding	Benign/Likely_benign
9	214593	T	C	T214593C	DOCK8	NR_160804.1(DOCK8-AS1):n.1158A>G	coding	Benign
9	214706	G	C	G214706C	DOCK8	NR_160804.1(DOCK8-AS1):n.1045C>G	coding	Benign
9	214984	C	G	C214984G	DOCK8	NM_203447.4(DOCK8):c.8C>G:p.Thr3Ser	coding	Benign
9	215043	C	G	C215043G	DOCK8	NM_203447.4(DOCK8):c.53+14C>G	coding	Benign
9	215086	A	C	A215086C	DOCK8	NM_203447.4(DOCK8):c.53+57A>C	coding	Benign
9	215258	T	C	T215258C	DOCK8	NM_203447.4(DOCK8):c.53+229T>C	coding	Benign
9	215296	A	G	A215296G	DOCK8	NM_203447.4(DOCK8):c.53+267A>G	coding	Benign
9	215329	G	A	G215329A	DOCK8	NM_203447.4(DOCK8):c.53+300G>A	coding	Benign
9	272981	C	G	C272981G	DOCK8	NM_203447.4(DOCK8):c.156+1252C>G	noncoding	Benign
9	273160	T	C	T273160C	DOCK8	NM_203447.4(DOCK8):c.156+1431T>C	noncoding	Benign
9	286852	C	G	C286852G	DOCK8	NM_203447.4(DOCK8):c.332+216C>G	noncoding	Benign
9	289237	T	A	T289237A	DOCK8	NM_203447.4(DOCK8):c.333-273T>A	noncoding	Benign
9	289348	C	G	C289348G	DOCK8	NM_203447.4(DOCK8):c.333-162C>G	noncoding	Benign
9	289497	T	A	T289497A	DOCK8	NM_203447.4(DOCK8):c.333-13T>A	noncoding	Benign
9	304241	C	G	C304241G	DOCK8	NM_203447.4(DOCK8):c.405-340C>G	noncoding	Benign
9	304259	C	G	C304259G	DOCK8	NM_203447.4(DOCK8):c.405-322C>G	noncoding	Benign
9	304265	C	A	C304265A	DOCK8	NM_203447.4(DOCK8):c.405-316C>A	noncoding	Benign
9	304276	G	C	G304276C	DOCK8	NM_203447.4(DOCK8):c.405-305G>C	noncoding	Benign
9	304428	A	T	A304428T	DOCK8	NM_203447.4(DOCK8):c.405-153A>T	noncoding	Benign
9	304478	C	G	C304478G	DOCK8	NM_203447.4(DOCK8):c.405-103C>G	noncoding	Benign
9	304486	T	C	T304486C	DOCK8	NM_203447.4(DOCK8):c.405-95T>C	noncoding	Benign
9	304646	C	T	C304646T	DOCK8	NM_203447.4(DOCK8):c.470C>T:p.Thr157Met	coding	Benign/Likely_benign
9	304769	G	A	G304769A	DOCK8	NM_203447.4(DOCK8):c.528+65G>A	noncoding	Benign
9	304945	G	C	G304945C	DOCK8	NM_203447.4(DOCK8):c.528+241G>C	noncoding	Benign
9	304957	C	T	C304957T	DOCK8	NM_203447.4(DOCK8):c.528+253C>T	noncoding	Benign
9	311888	A	G	A311888G	DOCK8	NM_203447.4(DOCK8):c.529-66A>G	noncoding	Benign
9	312194	A	T	A312194T	DOCK8	NM_203447.4(DOCK8):c.741+28A>T	noncoding	Benign
9	312264	G	A	G312264A	DOCK8	NM_203447.4(DOCK8):c.741+98G>A	noncoding	Benign
9	316803	T	C	T316803C	DOCK8	NM_203447.4(DOCK8):c.742-240T>C	noncoding	Benign
9	317195	G	A	G317195A	DOCK8	NM_203447.4(DOCK8):c.827+67G>A	noncoding	Benign
9	317218	A	C	A317218C	DOCK8	NM_203447.4(DOCK8):c.827+90A>C	noncoding	Benign
9	317240	C	T	C317240T	DOCK8	NM_203447.4(DOCK8):c.827+112C>T	noncoding	Benign
9	317417	G	A	G317417A	DOCK8	NM_203447.4(DOCK8):c.827+289G>A	noncoding	Benign
9	325817	T	C	T325817C	DOCK8	NM_203447.4(DOCK8):c.894+80T>C	noncoding	Benign
9	327700	C	T	C327700T	DOCK8	NM_203447.4(DOCK8):c.895-322C>T	noncoding	Benign
9	327782	T	C	T327782C	DOCK8	NM_203447.4(DOCK8):c.895-240T>C	noncoding	Benign
9	327938	G	C	G327938C	DOCK8	NM_203447.4(DOCK8):c.895-84G>C	noncoding	Benign
9	327957	T	G	T327957G	DOCK8	NM_203447.4(DOCK8):c.895-65T>G	noncoding	Benign
9	327996	T	C	T327996C	DOCK8	NM_203447.4(DOCK8):c.895-26T>C	noncoding	Benign
9	328367	C	T	C328367T	DOCK8	NM_203447.4(DOCK8):c.1044+196C>T	noncoding	Benign
9	332152	T	A	T332152A	DOCK8	NM_203447.4(DOCK8):c.1045-246T>A	noncoding	Benign
9	332639	C	T	C332639T	DOCK8	NM_203447.4(DOCK8):c.1125+161C>T	noncoding	Benign
9	334016	G	T	G334016T	DOCK8	NM_203447.4(DOCK8):c.1126-209G>T	noncoding	Benign
9	336735	C	T	C336735T	DOCK8	NM_203447.4(DOCK8):c.1422+17C>T	noncoding	Benign/Likely_benign
9	338722	G	C	G338722C	DOCK8	NM_203447.4(DOCK8):c.1423-284G>C	noncoding	Benign
9	339081	C	T	C339081T	DOCK8	NM_203447.4(DOCK8):c.1498C>T:p.Arg500Ter	coding	Pathogenic
9	339115	C	G	C339115G	DOCK8	NM_203447.4(DOCK8):c.1516+16C>G	noncoding	Benign/Likely_benign
9	340290	C	T	C340290T	DOCK8	NM_203447.4(DOCK8):c.1648C>T:p.Arg550Ter	coding	Pathogenic/Likely_pathogenic
9	340339	G	A	G340339A	DOCK8	NM_203447.4(DOCK8):c.1679+18G>A	noncoding	Benign
9	371173	G	T	G371173T	DOCK8	NM_203447.4(DOCK8):c.1869-255G>T	noncoding	Benign
9	376572	C	G	C376572G	DOCK8	NM_203447.4(DOCK8):c.2205+267C>G	noncoding	Benign
9	376750	A	G	A376750G	DOCK8	NM_203447.4(DOCK8):c.2206-227A>G	noncoding	Benign
9	376785	C	G	C376785G	DOCK8	NM_203447.4(DOCK8):c.2206-192C>G	noncoding	Benign
9	376929	A	G	A376929G	DOCK8	NM_203447.4(DOCK8):c.2206-48A>G	noncoding	Benign
9	376975	A	G	A376975G	DOCK8	NM_203447.4(DOCK8):c.2206-2A>G	noncoding	Pathogenic
9	377401	A	T	A377401T	DOCK8	NM_203447.4(DOCK8):c.2440+190A>T	noncoding	Benign
9	377428	T	C	T377428C	DOCK8	NM_203447.4(DOCK8):c.2440+217T>C	noncoding	Benign
9	379494	T	G	T379494G	DOCK8	NM_203447.4(DOCK8):c.2441-277T>G	noncoding	Benign
9	379524	T	C	T379524C	DOCK8	NM_203447.4(DOCK8):c.2441-247T>C	noncoding	Benign
9	379794	G	T	G379794T	DOCK8	NM_203447.4(DOCK8):c.2464G>T:p.Glu822Ter	coding	Pathogenic
9	379965	T	C	T379965C	DOCK8	NM_203447.4(DOCK8):c.2605+30T>C	noncoding	Benign
9	382372	A	G	A382372G	DOCK8	NM_203447.4(DOCK8):c.2606-141A>G	noncoding	Benign
9	382399	A	G	A382399G	DOCK8	NM_203447.4(DOCK8):c.2606-114A>G	noncoding	Benign
9	382810	C	G	C382810G	DOCK8	NM_203447.4(DOCK8):c.2778+125C>G	noncoding	Benign
9	382931	C	T	C382931T	DOCK8	NM_203447.4(DOCK8):c.2778+246C>T	noncoding	Benign
9	386552	A	C	A386552C	DOCK8	NM_203447.4(DOCK8):c.2874+126A>C	noncoding	Benign
9	396836	C	T	C396836T	DOCK8	NM_203447.4(DOCK8):c.3022C>T:p.Arg1008Trp	coding	Benign
9	396893	G	A	G396893A	DOCK8	NM_203447.4(DOCK8):c.3079G>A:p.Val1027Ile	coding	Benign/Likely_benign
9	398860	A	G	A398860G	DOCK8	NM_203447.4(DOCK8):c.3121-286A>G	noncoding	Benign
9	399011	A	G	A399011G	DOCK8	NM_203447.4(DOCK8):c.3121-135A>G	noncoding	Benign
9	399311	A	G	A399311G	DOCK8	NM_203447.4(DOCK8):c.3234+52A>G	noncoding	Benign
9	399449	A	G	A399449G	DOCK8	NM_203447.4(DOCK8):c.3234+190A>G	noncoding	Benign
9	406675	A	G	A406675G	DOCK8	NM_203447.4(DOCK8):c.3391-255A>G	noncoding	Benign
9	406954	C	T	C406954T	DOCK8	NM_203447.4(DOCK8):c.3415C>T:p.Gln1139Ter	coding	Pathogenic
9	407227	A	G	A407227G	DOCK8	NM_203447.4(DOCK8):c.3530+158A>G	noncoding	Benign
9	407290	A	G	A407290G	DOCK8	NM_203447.4(DOCK8):c.3530+221A>G	noncoding	Benign
9	414698	G	A	G414698A	DOCK8	NM_203447.4(DOCK8):c.3531-84G>A	noncoding	Benign
9	417918	A	G	A417918G	DOCK8	NM_203447.4(DOCK8):c.3701-150A>G	noncoding	Benign
9	417990	T	C	T417990C	DOCK8	NM_203447.4(DOCK8):c.3701-78T>C	noncoding	Benign
9	418051	C	T	C418051T	DOCK8	NM_203447.4(DOCK8):c.3701-17C>T	noncoding	Benign/Likely_benign
9	418272	T	C	T418272C	DOCK8	NM_203447.4(DOCK8):c.3840+65T>C	noncoding	Benign
9	420203	G	C	G420203C	DOCK8	NM_203447.4(DOCK8):c.3841-198G>C	noncoding	Benign
9	421079	G	A	G421079A	DOCK8	NM_203447.4(DOCK8):c.4153+1G>A	coding	Pathogenic
9	421860	A	G	A421860G	DOCK8	NM_203447.4(DOCK8):c.4154-188A>G	noncoding	Benign
9	421980	T	A	T421980A	DOCK8	NM_203447.4(DOCK8):c.4154-68T>A	noncoding	Benign
9	422136	G	A	G422136A	DOCK8	NM_203447.4(DOCK8):c.4241+1G>A	coding	Pathogenic
9	422157	T	C	T422157C	DOCK8	NM_203447.4(DOCK8):c.4241+22T>C	noncoding	Benign
9	428032	T	G	T428032G	DOCK8	NM_203447.4(DOCK8):c.4339-330T>G	noncoding	Benign
9	428706	G	A	G428706A	DOCK8	NM_203447.4(DOCK8):c.4473+210G>A	noncoding	Benign
9	428767	A	G	A428767G	DOCK8	NM_203447.4(DOCK8):c.4473+271A>G	noncoding	Benign
9	429474	G	A	G429474A	DOCK8	NM_203447.4(DOCK8):c.4474-228G>A	noncoding	Benign
9	430063	A	G	A430063G	DOCK8	NM_203447.4(DOCK8):c.4626+209A>G	noncoding	Benign
9	432081	T	C	T432081C	DOCK8	NM_203447.4(DOCK8):c.4627-85T>C	noncoding	Benign
9	432470	C	T	C432470T	DOCK8	NM_203447.4(DOCK8):c.4785+146C>T	noncoding	Benign
9	432503	T	C	T432503C	DOCK8	NM_203447.4(DOCK8):c.4785+179T>C	noncoding	Benign
9	432561	A	G	A432561G	DOCK8	NM_203447.4(DOCK8):c.4785+237A>G	noncoding	Benign
9	433697	T	A	T433697A	DOCK8	NM_203447.4(DOCK8):c.4786-178T>A	noncoding	Benign
9	433708	C	T	C433708T	DOCK8	NM_203447.4(DOCK8):c.4786-167C>T	noncoding	Benign
9	433816	C	G	C433816G	DOCK8	NM_203447.4(DOCK8):c.4786-59C>G	noncoding	Benign
9	434222	A	G	A434222G	DOCK8	NM_203447.4(DOCK8):c.4886+247A>G	noncoding	Benign
9	434512	A	T	A434512T	DOCK8	NM_203447.4(DOCK8):c.4887-271A>T	noncoding	Benign
9	434528	T	G	T434528G	DOCK8	NM_203447.4(DOCK8):c.4887-255T>G	noncoding	Benign
9	434767	C	T	C434767T	DOCK8	NM_203447.4(DOCK8):c.4887-16C>T	noncoding	Benign
9	439058	T	C	T439058C	DOCK8	NM_203447.4(DOCK8):c.5080-187T>C	noncoding	Benign
9	439102	G	C	G439102C	DOCK8	NM_203447.4(DOCK8):c.5080-143G>C	noncoding	Benign
9	439326	C	T	C439326T	DOCK8	NM_203447.4(DOCK8):c.5161C>T:p.Gln1721Ter	coding	Pathogenic
9	439453	G	C	G439453C	DOCK8	NM_203447.4(DOCK8):c.5223+65G>C	noncoding	Benign
9	439467	A	C	A439467C	DOCK8	NM_203447.4(DOCK8):c.5223+79A>C	noncoding	Benign
9	439603	C	T	C439603T	DOCK8	NM_203447.4(DOCK8):c.5223+215C>T	noncoding	Benign
9	439605	A	G	A439605G	DOCK8	NM_203447.4(DOCK8):c.5223+217A>G	noncoding	Benign
9	439622	T	G	T439622G	DOCK8	NM_203447.4(DOCK8):c.5223+234T>G	noncoding	Benign
9	441349	C	T	C441349T	DOCK8	NM_203447.4(DOCK8):c.5287C>T:p.Arg1763Ter	coding	Pathogenic
9	441827	C	T	C441827T	DOCK8	NM_203447.4(DOCK8):c.5356-48C>T	noncoding	Benign
9	442030	C	T	C442030T	DOCK8	NM_203447.4(DOCK8):c.5490+21C>T	noncoding	Benign
9	442034	T	G	T442034G	DOCK8	NM_203447.4(DOCK8):c.5490+25T>G	noncoding	Benign
9	449551	A	C	A449551C	DOCK8	NM_203447.4(DOCK8):c.5818-233A>C	noncoding	Benign
9	449700	G	T	G449700T	DOCK8	NM_203447.4(DOCK8):c.5818-84G>T	noncoding	Benign
9	449768	T	C	T449768C	DOCK8	NM_203447.4(DOCK8):c.5818-16T>C	noncoding	Benign
9	450060	A	G	A450060G	DOCK8	NM_203447.4(DOCK8):c.5961+133A>G	noncoding	Benign
9	451882	T	C	T451882C	DOCK8	NM_203447.4(DOCK8):c.5962-129T>C	noncoding	Benign
9	451884	C	T	C451884T	DOCK8	NM_203447.4(DOCK8):c.5962-127C>T	noncoding	Benign
9	451906	C	T	C451906T	DOCK8	NM_203447.4(DOCK8):c.5962-105C>T	noncoding	Benign
9	451947	G	A	G451947A	DOCK8	NM_203447.4(DOCK8):c.5962-64G>A	noncoding	Benign
9	451949	G	A	G451949A	DOCK8	NM_203447.4(DOCK8):c.5962-62G>A	noncoding	Benign
9	451951	G	A	G451951A	DOCK8	NM_203447.4(DOCK8):c.5962-60G>A	noncoding	Benign
9	451957	A	G	A451957G	DOCK8	NM_203447.4(DOCK8):c.5962-54A>G	noncoding	Benign
9	463563	C	T	C463563T	DOCK8	NM_203447.4(DOCK8):c.6115C>T:p.Gln2039Ter	coding	Pathogenic
9	676569	C	T	C676569T	KANK1	NM_015158.5(KANK1):c.-83-321C>T	noncoding	Benign
9	676571	T	C	T676571C	KANK1	NM_015158.5(KANK1):c.-83-319T>C	noncoding	Benign
9	676692	T	C	T676692C	KANK1	NM_015158.5(KANK1):c.-83-198T>C	noncoding	Benign
9	676704	T	C	T676704C	KANK1	NM_015158.5(KANK1):c.-83-186T>C	noncoding	Benign
9	676741	A	G	A676741G	KANK1	NM_015158.5(KANK1):c.-83-149A>G	noncoding	Benign
9	676745	A	G	A676745G	KANK1	NM_015158.5(KANK1):c.-83-145A>G	noncoding	Benign
9	676820	A	G	A676820G	KANK1	NM_015158.5(KANK1):c.-83-70A>G	noncoding	Benign
9	676954	T	C	T676954C	KANK1	NM_015158.5(KANK1):c.-19T>C	noncoding	Benign
9	677089	G	A	G677089A	KANK1	NM_015158.5(KANK1):c.37+80G>A	noncoding	Benign
9	677141	A	G	A677141G	KANK1	NM_015158.5(KANK1):c.37+132A>G	noncoding	Benign
9	710818	A	G	A710818G	KANK1	NM_015158.5(KANK1):c.52A>G:p.Ile18Val	coding	Benign/Likely_benign
9	710915	A	T	A710915T	KANK1	NM_015158.5(KANK1):c.149A>T:p.Asp50Val	coding	Benign/Likely_benign
9	710966	G	A	G710966A	KANK1	NM_015158.5(KANK1):c.200G>A:p.Arg67Gln	coding	Benign
9	711219	C	T	C711219T	KANK1	NM_015158.5(KANK1):c.453C>T:p.Asn151=	coding	Benign
9	711294	G	A	G711294A	KANK1	NM_015158.5(KANK1):c.528G>A:p.Pro176=	coding	Benign
9	711396	C	G	C711396G	KANK1	NM_015158.5(KANK1):c.630C>G:p.His210Gln	coding	Benign
9	712060	G	C	G712060C	KANK1	NM_015158.5(KANK1):c.1294G>C:p.Glu432Gln	coding	Benign
9	712066	A	C	A712066C	KANK1	NM_015158.5(KANK1):c.1300A>C:p.Arg434=	coding	Benign
9	712137	G	C	G712137C	KANK1	NM_015158.5(KANK1):c.1371G>C:p.Leu457=	coding	Benign
9	712156	T	G	T712156G	KANK1	NM_015158.5(KANK1):c.1390T>G:p.Ser464Ala	coding	Benign
9	712526	A	G	A712526G	KANK1	NM_015158.5(KANK1):c.1760A>G:p.Glu587Gly	coding	Benign/Likely_benign
9	712599	C	T	C712599T	KANK1	NM_015158.5(KANK1):c.1833C>T:p.Asn611=	coding	Benign
9	712674	C	T	C712674T	KANK1	NM_015158.5(KANK1):c.1908C>T:p.Asp636=	coding	Benign
9	712766	G	A	G712766A	KANK1	NM_015158.5(KANK1):c.2000G>A:p.Arg667His	coding	Benign
9	713307	A	G	A713307G	KANK1	NM_015158.5(KANK1):c.2541A>G:p.Glu847=	coding	Benign
9	713576	A	T	A713576T	KANK1	NM_015158.5(KANK1):c.2698+112A>T	noncoding	Benign
9	713768	T	A	T713768A	KANK1	NM_015158.5(KANK1):c.2698+304T>A	noncoding	Benign
9	729758	G	A	G729758A	KANK1	NM_015158.5(KANK1):c.2699-293G>A	noncoding	Benign
9	729968	A	C	A729968C	KANK1	NM_015158.5(KANK1):c.2699-83A>C	noncoding	Benign
9	729972	G	A	G729972A	KANK1	NM_015158.5(KANK1):c.2699-79G>A	noncoding	Benign
9	730054	A	G	A730054G	KANK1	NM_015158.5(KANK1):c.2702A>G:p.Asn901Ser	coding	Benign
9	730266	C	T	C730266T	KANK1	NM_015158.5(KANK1):c.2896+18C>T	noncoding	Benign/Likely_benign
9	730338	T	C	T730338C	KANK1	NM_015158.5(KANK1):c.2896+90T>C	noncoding	Benign
9	730460	G	A	G730460A	KANK1	NM_015158.5(KANK1):c.2896+212G>A	noncoding	Benign
9	730473	T	G	T730473G	KANK1	NM_015158.5(KANK1):c.2896+225T>G	noncoding	Benign
9	730490	G	A	G730490A	KANK1	NM_015158.5(KANK1):c.2896+242G>A	noncoding	Benign
9	730817	G	A	G730817A	KANK1	NM_015158.5(KANK1):c.2897-341G>A	noncoding	Benign
9	731275	A	T	A731275T	KANK1	NM_015158.5(KANK1):c.3005+9A>T	noncoding	Benign
9	731332	A	G	A731332G	KANK1	NM_015158.5(KANK1):c.3005+66A>G	noncoding	Benign
9	731420	G	T	G731420T	KANK1	NM_015158.5(KANK1):c.3005+154G>T	noncoding	Benign
9	732055	G	A	G732055A	KANK1	NM_015158.5(KANK1):c.3006-323G>A	noncoding	Benign
9	732216	C	T	C732216T	KANK1	NM_015158.5(KANK1):c.3006-162C>T	noncoding	Benign
9	732219	C	G	C732219G	KANK1	NM_015158.5(KANK1):c.3006-159C>G	noncoding	Benign
9	732302	T	C	T732302C	KANK1	NM_015158.5(KANK1):c.3006-76T>C	noncoding	Benign
9	732366	A	G	A732366G	KANK1	NM_015158.5(KANK1):c.3006-12A>G	noncoding	Benign
9	732536	T	C	T732536C	KANK1	NM_015158.5(KANK1):c.3164T>C:p.Ile1055Thr	coding	Benign
9	732629	T	C	T732629C	KANK1	NM_015158.5(KANK1):c.3245+12T>C	noncoding	Benign
9	732704	T	A	T732704A	KANK1	NM_015158.5(KANK1):c.3245+87T>A	noncoding	Benign
9	732730	C	G	C732730G	KANK1	NM_015158.5(KANK1):c.3245+113C>G	noncoding	Benign
9	732779	A	G	A732779G	KANK1	NM_015158.5(KANK1):c.3245+162A>G	noncoding	Benign
9	732892	G	C	G732892C	KANK1	NM_015158.5(KANK1):c.3245+275G>C	noncoding	Benign
9	732900	T	C	T732900C	KANK1	NM_015158.5(KANK1):c.3245+283T>C	noncoding	Benign
9	734645	G	A	G734645A	KANK1	NM_015158.5(KANK1):c.3246-103G>A	noncoding	Benign
9	734679	G	T	G734679T	KANK1	NM_015158.5(KANK1):c.3246-69G>T	noncoding	Benign
9	734854	C	G	C734854G	KANK1	NM_015158.5(KANK1):c.3333+19C>G	noncoding	Benign
9	735089	G	A	G735089A	KANK1	NM_015158.5(KANK1):c.3333+254G>A	noncoding	Benign
9	738055	T	C	T738055C	KANK1	NM_015158.5(KANK1):c.3334-230T>C	noncoding	Benign
9	738238	G	A	G738238A	KANK1	NM_015158.5(KANK1):c.3334-47G>A	noncoding	Benign
9	738434	C	T	C738434T	KANK1	NM_015158.5(KANK1):c.3483C>T:p.Asn1161=	coding	Benign
9	740472	G	A	G740472A	KANK1	NM_015158.5(KANK1):c.3554-320G>A	noncoding	Benign
9	740592	G	C	G740592C	KANK1	NM_015158.5(KANK1):c.3554-200G>C	noncoding	Benign
9	740761	C	G	C740761G	KANK1	NM_015158.5(KANK1):c.3554-31C>G	noncoding	Benign
9	740856	C	T	C740856T	KANK1	NM_015158.5(KANK1):c.3618C>T:p.Ala1206=	coding	Benign
9	740901	C	T	C740901T	KANK1	NM_015158.5(KANK1):c.3663C>T:p.Phe1221=	coding	Benign
9	741001	T	C	T741001C	KANK1	NM_015158.5(KANK1):c.3696+67T>C	noncoding	Benign
9	741017	A	G	A741017G	KANK1	NM_015158.5(KANK1):c.3696+83A>G	noncoding	Benign
9	741041	T	G	T741041G	KANK1	NM_015158.5(KANK1):c.3696+107T>G	noncoding	Benign
9	741061	C	T	C741061T	KANK1	NM_015158.5(KANK1):c.3696+127C>T	noncoding	Benign
9	741084	C	T	C741084T	KANK1	NM_015158.5(KANK1):c.3696+150C>T	noncoding	Benign
9	741187	T	C	T741187C	KANK1	NM_015158.5(KANK1):c.3696+253T>C	noncoding	Benign
9	741224	C	G	C741224G	KANK1	NM_015158.5(KANK1):c.3696+290C>G	noncoding	Benign
9	742342	A	G	A742342G	KANK1	NM_015158.5(KANK1):c.3834A>G:p.Gly1278=	coding	Benign
9	742642	T	G	T742642G	KANK1	NM_015158.5(KANK1):c.3897+237T>G	noncoding	Benign
9	744418	T	C	T744418C	KANK1	NM_015158.5(KANK1):c.3898-73T>C	noncoding	Benign
9	744737	G	A	G744737A	KANK1	NM_015158.5(KANK1):c.3996+148G>A	noncoding	Benign
9	745038	T	A	T745038A	KANK1	NM_015158.5(KANK1):c.3997-135T>A	noncoding	Benign
9	745156	C	G	C745156G	KANK1	NM_015158.5(KANK1):c.3997-17C>G	noncoding	Benign
9	745289	C	T	C745289T	KANK1	NM_015158.5(KANK1):c.*54C>T	noncoding	Benign
9	745413	A	G	A745413G	KANK1	NM_015158.5(KANK1):c.*178A>G	noncoding	Benign
9	841424	C	G	C841424G	DMRT1	Single_allele	noncoding	Benign
9	841825	C	T	C841825T	DMRT1	NM_021951.3(DMRT1):c.-14C>T	noncoding	Benign
9	841971	T	A	T841971A	DMRT1	NM_021951.3(DMRT1):c.133T>A:p.Ser45Thr	coding	Benign
9	842051	G	A	G842051A	DMRT1	NM_021951.3(DMRT1):c.213G>A:p.Pro71=	coding	Benign
9	842395	C	T	C842395T	DMRT1	NM_021951.3(DMRT1):c.354+203C>T	noncoding	Benign
9	847109	A	G	A847109G	DMRT1	NM_021951.3(DMRT1):c.504A>G:p.Pro168=	coding	Benign/Likely_benign
9	847152	G	A	G847152A	DMRT1	NM_021951.3(DMRT1):c.538+9G>A	noncoding	Benign
9	847208	A	G	A847208G	DMRT1	NM_021951.3(DMRT1):c.538+65A>G	noncoding	Benign
9	847265	G	A	G847265A	DMRT1	NM_021951.3(DMRT1):c.538+122G>A	noncoding	Benign
9	847292	G	T	G847292T	DMRT1	NM_021951.3(DMRT1):c.538+149G>T	noncoding	Benign
9	847365	C	G	C847365G	DMRT1	NM_021951.3(DMRT1):c.538+222C>G	noncoding	Benign
9	893754	T	C	T893754C	DMRT1	NM_021951.3(DMRT1):c.539-158T>C	noncoding	Benign
9	894036	T	C	T894036C	DMRT1	NM_021951.3(DMRT1):c.663T>C:p.Tyr221=	coding	Benign
9	894224	C	A	C894224A	DMRT1	NM_021951.3(DMRT1):c.822+29C>A	noncoding	Benign
9	894297	C	A	C894297A	DMRT1	NM_021951.3(DMRT1):c.822+102C>A	noncoding	Benign
9	894409	A	G	A894409G	DMRT1	NM_021951.3(DMRT1):c.822+214A>G	noncoding	Benign
9	916819	C	T	C916819T	DMRT1	NM_021951.3(DMRT1):c.879C>T:p.Tyr293=	coding	Benign
9	917015	T	G	T917015G	DMRT1	NM_021951.3(DMRT1):c.967+108T>G	noncoding	Benign
9	917162	A	G	A917162G	DMRT1	NM_021951.3(DMRT1):c.967+255A>G	noncoding	Benign
9	917214	A	G	A917214G	DMRT1	NM_021951.3(DMRT1):c.967+307A>G	noncoding	Benign
9	967781	T	G	T967781G	DMRT1	NM_021951.3(DMRT1):c.968-204T>G	noncoding	Benign
9	967981	G	C	G967981C	DMRT1	NM_021951.3(DMRT1):c.968-4G>C	noncoding	Benign
9	968334	G	A	G968334A	DMRT1	NM_021951.3(DMRT1):c.*195G>A	noncoding	Benign
9	1051713	C	A	C1051713A	DMRT2	NM_181872.6(DMRT2):c.100C>A:p.Pro34Thr	coding	Benign
9	1051758	G	C	G1051758C	DMRT2	NM_181872.6(DMRT2):c.145G>C:p.Asp49His	coding	Benign
9	1051856	G	A	G1051856A	DMRT2	NM_181872.6(DMRT2):c.243G>A:p.Arg81=	coding	Benign
9	1051930	C	G	C1051930G	DMRT2	NM_181872.6(DMRT2):c.317C>G:p.Thr106Ser	coding	Benign
9	1052075	G	T	G1052075T	DMRT2	NM_181872.6(DMRT2):c.462G>T:p.Leu154=	coding	Benign
9	2028757	T	G	T2028757G	SMARCA2	NM_003070.5(SMARCA2):c.-36-230T>G	noncoding	Benign
9	2028942	A	G	A2028942G	SMARCA2	NM_003070.5(SMARCA2):c.-36-45A>G	noncoding	Benign
9	2029073	G	C	G2029073C	SMARCA2	NM_003070.5(SMARCA2):c.51G>C:p.Pro17=	coding	Benign/Likely_benign
9	2029232	G	A	G2029232A	SMARCA2	NM_003070.5(SMARCA2):c.210G>A:p.Met70Ile	coding	Benign/Likely_benign
9	2029275	C	G	C2029275G	SMARCA2	NM_003070.5(SMARCA2):c.225+28C>G	noncoding	Benign
9	2029454	C	A	C2029454A	SMARCA2	NM_003070.5(SMARCA2):c.225+207C>A	noncoding	Benign
9	2032845	G	A	G2032845A	SMARCA2	NM_003070.5(SMARCA2):c.226-107G>A	noncoding	Benign
9	2032932	A	G	A2032932G	SMARCA2	NM_003070.5(SMARCA2):c.226-20A>G	noncoding	Benign
9	2033130	A	C	A2033130C	SMARCA2	NM_003070.5(SMARCA2):c.355+49A>C	noncoding	Benign
9	2033182	A	C	A2033182C	SMARCA2	NM_003070.5(SMARCA2):c.355+101A>C	noncoding	Benign
9	2039213	A	G	A2039213G	SMARCA2	NM_003070.5(SMARCA2):c.356-253A>G	noncoding	Benign
9	2039569	G	A	G2039569A	SMARCA2	NM_003070.5(SMARCA2):c.459G>A:p.Pro153=	coding	Benign/Likely_benign
9	2039623	C	A	C2039623A	SMARCA2	NM_003070.5(SMARCA2):c.513C>A:p.Pro171=	coding	Benign/Likely_benign
9	2039677	T	C	T2039677C	SMARCA2	NM_003070.5(SMARCA2):c.567T>C:p.Tyr189=	coding	Benign
9	2039755	G	A	G2039755A	SMARCA2	NM_003070.5(SMARCA2):c.645G>A:p.Leu215=	coding	Benign
9	2039826	C	T	C2039826T	SMARCA2	NM_003070.5(SMARCA2):c.716C>T:p.Pro239Leu	coding	Benign/Likely_benign
9	2039945	G	A	G2039945A	SMARCA2	NM_003070.5(SMARCA2):c.790+45G>A	noncoding	Benign
9	2039973	C	T	C2039973T	SMARCA2	NM_003070.5(SMARCA2):c.790+73C>T	noncoding	Benign
9	2039983	A	C	A2039983C	SMARCA2	NM_003070.5(SMARCA2):c.790+83A>C	noncoding	Benign
9	2047282	G	A	G2047282A	SMARCA2	NM_003070.5(SMARCA2):c.844G>A:p.Ala282Thr	coding	Benign
9	2047529	C	T	C2047529T	SMARCA2	NM_003070.5(SMARCA2):c.1046+45C>T	noncoding	Benign
9	2047759	G	C	G2047759C	SMARCA2	NM_003070.5(SMARCA2):c.1046+275G>C	noncoding	Benign
9	2054380	C	T	C2054380T	SMARCA2	NM_003070.5(SMARCA2):c.1047-217C>T	noncoding	Benign
9	2054409	C	T	C2054409T	SMARCA2	NM_003070.5(SMARCA2):c.1047-188C>T	noncoding	Benign
9	2054562	C	A	C2054562A	SMARCA2	NM_003070.5(SMARCA2):c.1047-35C>A	noncoding	Benign
9	2054565	C	T	C2054565T	SMARCA2	NM_003070.5(SMARCA2):c.1047-32C>T	noncoding	Benign
9	2054630	A	G	A2054630G	SMARCA2	NM_003070.5(SMARCA2):c.1080A>G:p.Glu360=	coding	Benign/Likely_benign
9	2056563	G	A	G2056563A	SMARCA2	NM_003070.5(SMARCA2):c.1174-109G>A	noncoding	Benign
9	2056686	G	T	G2056686T	SMARCA2	NM_003070.5(SMARCA2):c.1188G>T:p.Val396=	coding	Benign
9	2056764	T	A	T2056764A	SMARCA2	NM_003070.5(SMARCA2):c.1266T>A:p.Thr422=	coding	Benign/Likely_benign
9	2057036	A	C	A2057036C	SMARCA2	NM_003070.5(SMARCA2):c.1347+191A>C	noncoding	Benign
9	2058133	T	C	T2058133C	SMARCA2	NM_003070.5(SMARCA2):c.1348-158T>C	noncoding	Benign
9	2058371	C	G	C2058371G	SMARCA2	NM_003070.5(SMARCA2):c.1428C>G:p.Leu476=	coding	Benign
9	2058453	C	A	C2058453A	SMARCA2	NM_003070.5(SMARCA2):c.1510C>A:p.Arg504=	coding	Benign
9	2058485	G	A	G2058485A	SMARCA2	NM_003070.5(SMARCA2):c.1521+21G>A	noncoding	Benign
9	2058508	G	A	G2058508A	SMARCA2	NM_003070.5(SMARCA2):c.1521+44G>A	noncoding	Benign
9	2060585	G	A	G2060585A	SMARCA2	NM_003070.5(SMARCA2):c.1522-231G>A	noncoding	Benign
9	2060768	T	C	T2060768C	SMARCA2	NM_003070.5(SMARCA2):c.1522-48T>C	noncoding	Benign
9	2060797	G	A	G2060797A	SMARCA2	NM_003070.5(SMARCA2):c.1522-19G>A	noncoding	Benign/Likely_benign
9	2060867	C	T	C2060867T	SMARCA2	NM_003070.5(SMARCA2):c.1573C>T:p.Arg525Cys	coding	Pathogenic
9	2060868	G	A	G2060868A	SMARCA2	NM_003070.5(SMARCA2):c.1574G>A:p.Arg525His	coding	Pathogenic/Likely_pathogenic
9	2073126	C	G	C2073126G	SMARCA2	NM_003070.5(SMARCA2):c.1747-86C>G	noncoding	Benign
9	2073162	G	C	G2073162C	SMARCA2	NM_003070.5(SMARCA2):c.1747-50G>C	noncoding	Benign
9	2073164	G	C	G2073164C	SMARCA2	NM_003070.5(SMARCA2):c.1747-48G>C	noncoding	Benign
9	2073361	G	A	G2073361A	SMARCA2	NM_003070.5(SMARCA2):c.1877+19G>A	noncoding	Benign
9	2073482	A	G	A2073482G	SMARCA2	NM_003070.5(SMARCA2):c.1878-84A>G	noncoding	Benign
9	2073514	A	T	A2073514T	SMARCA2	NM_003070.5(SMARCA2):c.1878-52A>T	noncoding	Benign
9	2073536	C	T	C2073536T	SMARCA2	NM_003070.5(SMARCA2):c.1878-30C>T	noncoding	Benign
9	2073658	T	G	T2073658G	SMARCA2	NM_003070.5(SMARCA2):c.1935+35T>G	noncoding	Benign
9	2073708	G	T	G2073708T	SMARCA2	NM_003070.5(SMARCA2):c.1935+85G>T	noncoding	Benign
9	2073839	C	T	C2073839T	SMARCA2	NM_003070.5(SMARCA2):c.1935+216C>T	noncoding	Benign
9	2076174	A	T	A2076174T	SMARCA2	NM_003070.5(SMARCA2):c.1936-55A>T	noncoding	Benign
9	2076276	C	A	C2076276A	SMARCA2	NM_003070.5(SMARCA2):c.1983C>A:p.Leu661=	coding	Benign
9	2077444	G	T	G2077444T	SMARCA2	NM_003070.5(SMARCA2):c.2037-185G>T	noncoding	Benign
9	2077728	G	A	G2077728A	SMARCA2	NM_003070.5(SMARCA2):c.2136G>A:p.Val712=	coding	Benign/Likely_benign
9	2077875	T	C	T2077875C	SMARCA2	NM_003070.5(SMARCA2):c.2184+99T>C	noncoding	Benign
9	2077888	A	G	A2077888G	SMARCA2	NM_003070.5(SMARCA2):c.2184+112A>G	noncoding	Benign
9	2081608	A	T	A2081608T	SMARCA2	NM_003070.5(SMARCA2):c.2185-224A>T	noncoding	Benign
9	2081788	C	G	C2081788G	SMARCA2	NM_003070.5(SMARCA2):c.2185-44C>G	noncoding	Benign
9	2081905	T	A	T2081905A	SMARCA2	NM_003070.5(SMARCA2):c.2258T>A:p.Leu753His	coding	Pathogenic
9	2082026	G	A	G2082026A	SMARCA2	NM_003070.5(SMARCA2):c.2348+31G>A	noncoding	Benign
9	2083325	G	T	G2083325T	SMARCA2	NM_003070.5(SMARCA2):c.2349-22G>T	noncoding	Benign
9	2083332	T	A	T2083332A	SMARCA2	NM_003070.5(SMARCA2):c.2349-15T>A	noncoding	Benign
9	2083755	A	G	A2083755G	SMARCA2	NM_003070.5(SMARCA2):c.2416-331A>G	noncoding	Benign
9	2084209	A	G	A2084209G	SMARCA2	NM_003070.5(SMARCA2):c.2526+13A>G	noncoding	Benign
9	2086804	G	A	G2086804A	SMARCA2	NM_003070.5(SMARCA2):c.2527-25G>A	noncoding	Benign
9	2086865	C	G	C2086865G	SMARCA2	NM_003070.5(SMARCA2):c.2563C>G:p.Arg855Gly	coding	Pathogenic
9	2086866	G	A	G2086866A	SMARCA2	NM_003070.5(SMARCA2):c.2564G>A:p.Arg855Gln	coding	Pathogenic
9	2086949	C	G	C2086949G	SMARCA2	NM_003070.5(SMARCA2):c.2647C>G:p.Pro883Ala	coding	Pathogenic
9	2088391	A	C	A2088391C	SMARCA2	NM_003070.5(SMARCA2):c.2770-109A>C	noncoding	Benign
9	2088540	G	T	G2088540T	SMARCA2	NM_003070.5(SMARCA2):c.2810G>T:p.Arg937Leu	coding	Pathogenic/Likely_pathogenic
9	2088650	T	C	T2088650C	SMARCA2	NM_003070.5(SMARCA2):c.2883+37T>C	noncoding	Benign
9	2088659	A	G	A2088659G	SMARCA2	NM_003070.5(SMARCA2):c.2883+46A>G	noncoding	Benign
9	2088703	A	C	A2088703C	SMARCA2	NM_003070.5(SMARCA2):c.2883+90A>C	noncoding	Benign
9	2096704	G	A	G2096704A	SMARCA2	NM_003070.5(SMARCA2):c.2931G>A:p.Leu977=	coding	Benign
9	2097311	G	A	G2097311A	SMARCA2	NM_003070.5(SMARCA2):c.2992-74G>A	noncoding	Benign
9	2097553	A	T	A2097553T	SMARCA2	NM_003070.5(SMARCA2):c.3078+82A>T	noncoding	Benign
9	2097560	C	A	C2097560A	SMARCA2	NM_003070.5(SMARCA2):c.3078+89C>A	noncoding	Benign
9	2097585	C	T	C2097585T	SMARCA2	NM_003070.5(SMARCA2):c.3078+114C>T	noncoding	Benign
9	2101322	G	A	G2101322A	SMARCA2	NM_003070.5(SMARCA2):c.3079-248G>A	noncoding	Benign
9	2101434	G	A	G2101434A	SMARCA2	NM_003070.5(SMARCA2):c.3079-136G>A	noncoding	Benign
9	2101545	T	A	T2101545A	SMARCA2	NM_003070.5(SMARCA2):c.3079-25T>A	noncoding	Benign
9	2101659	G	T	G2101659T	SMARCA2	NM_003070.5(SMARCA2):c.3125+43G>T	noncoding	Benign
9	2101663	T	A	T2101663A	SMARCA2	NM_003070.5(SMARCA2):c.3125+47T>A	noncoding	Benign
9	2103778	A	C	A2103778C	SMARCA2	NM_003070.5(SMARCA2):c.3126-225A>C	noncoding	Benign
9	2103950	T	C	T2103950C	SMARCA2	NM_003070.5(SMARCA2):c.3126-53T>C	noncoding	Benign
9	2103986	C	T	C2103986T	SMARCA2	NM_003070.5(SMARCA2):c.3126-17C>T	noncoding	Benign
9	2104036	G	A	G2104036A	SMARCA2	NM_003070.5(SMARCA2):c.3159G>A:p.Glu1053_Leu1054=	coding	Benign
9	2104159	A	G	A2104159G	SMARCA2	NM_003070.5(SMARCA2):c.3282A>G:p.Leu1094=	coding	Benign/Likely_benign
9	2104184	C	T	C2104184T	SMARCA2	NM_003070.5(SMARCA2):c.3292+15C>T	noncoding	Benign
9	2104193	C	T	C2104193T	SMARCA2	NM_003070.5(SMARCA2):c.3292+24C>T	noncoding	Benign
9	2104194	G	A	G2104194A	SMARCA2	NM_003070.5(SMARCA2):c.3292+25G>A	noncoding	Benign
9	2104425	T	G	T2104425G	SMARCA2	NM_003070.5(SMARCA2):c.3292+256T>G	noncoding	Benign
9	2110209	T	C	T2110209C	SMARCA2	NM_003070.5(SMARCA2):c.3293-45T>C	noncoding	Benign
9	2110259	A	C	A2110259C	SMARCA2	NM_003070.5(SMARCA2):c.3298A>C:p.Thr1100Pro	coding	Pathogenic
9	2110347	G	A	G2110347A	SMARCA2	NM_003070.5(SMARCA2):c.3386G>A:p.Gly1129Asp	coding	Pathogenic
9	2110581	A	G	A2110581G	SMARCA2	NM_003070.5(SMARCA2):c.3456+164A>G	noncoding	Benign
9	2115743	T	C	T2115743C	SMARCA2	NM_003070.5(SMARCA2):c.3457-79T>C	noncoding	Benign
9	2115844	C	G	C2115844G	SMARCA2	NM_003070.5(SMARCA2):c.3479C>G:p.Ala1160Gly	coding	Pathogenic
9	2115875	G	T	G2115875T	SMARCA2	NM_003070.5(SMARCA2):c.3510G>T:p.Arg1170=	coding	Benign
9	2115920	C	T	C2115920T	SMARCA2	NM_003070.5(SMARCA2):c.3555C>T:p.Leu1185=	coding	Benign/Likely_benign
9	2116153	A	C	A2116153C	SMARCA2	NM_003070.5(SMARCA2):c.3684+104A>C	noncoding	Benign
9	2116390	G	A	G2116390A	SMARCA2	NM_003070.5(SMARCA2):c.3684+341G>A	noncoding	Benign
9	2119582	C	T	C2119582T	SMARCA2	NM_003070.5(SMARCA2):c.3762+47C>T	noncoding	Benign
9	2119608	C	G	C2119608G	SMARCA2	NM_003070.5(SMARCA2):c.3762+73C>G	noncoding	Benign
9	2119729	A	C	A2119729C	SMARCA2	NM_003070.5(SMARCA2):c.3762+194A>C	noncoding	Benign
9	2123435	G	A	G2123435A	SMARCA2	NM_003070.5(SMARCA2):c.3763-284G>A	noncoding	Benign
9	2123639	T	C	T2123639C	SMARCA2	NM_003070.5(SMARCA2):c.3763-80T>C	noncoding	Benign
9	2123661	G	A	G2123661A	SMARCA2	NM_003070.5(SMARCA2):c.3763-58G>A	noncoding	Benign
9	2123671	C	A	C2123671A	SMARCA2	NM_003070.5(SMARCA2):c.3763-48C>A	noncoding	Benign
9	2123672	C	A	C2123672A	SMARCA2	NM_003070.5(SMARCA2):c.3763-47C>A	noncoding	Benign
9	2123684	C	T	C2123684T	SMARCA2	NM_003070.5(SMARCA2):c.3763-35C>T	noncoding	Benign
9	2123685	T	G	T2123685G	SMARCA2	NM_003070.5(SMARCA2):c.3763-34T>G	noncoding	Benign
9	2123959	C	T	C2123959T	SMARCA2	NM_003070.5(SMARCA2):c.3981+22C>T	noncoding	Benign
9	2124140	C	T	C2124140T	SMARCA2	NM_003070.5(SMARCA2):c.3981+203C>T	noncoding	Benign
9	2161646	C	T	C2161646T	SMARCA2	NM_003070.5(SMARCA2):c.3982-40C>T	noncoding	Benign
9	2161944	G	C	G2161944C	SMARCA2	NM_003070.5(SMARCA2):c.4199+41G>C	noncoding	Benign
9	2161949	C	T	C2161949T	SMARCA2	NM_003070.5(SMARCA2):c.4199+46C>T	noncoding	Benign
9	2161950	G	C	G2161950C	SMARCA2	NM_003070.5(SMARCA2):c.4199+47G>C	noncoding	Benign
9	2162086	T	C	T2162086C	SMARCA2	NM_003070.5(SMARCA2):c.4199+183T>C	noncoding	Benign
9	2170285	G	A	G2170285A	SMARCA2	NM_003070.5(SMARCA2):c.4200-134G>A	noncoding	Benign
9	2170372	G	A	G2170372A	SMARCA2	NM_003070.5(SMARCA2):c.4200-47G>A	noncoding	Benign
9	2170414	C	T	C2170414T	SMARCA2	NM_003070.5(SMARCA2):c.4200-5C>T	noncoding	Benign
9	2170415	G	A	G2170415A	SMARCA2	NM_003070.5(SMARCA2):c.4200-4G>A	noncoding	Benign/Likely_benign
9	2170437	G	A	G2170437A	SMARCA2	NM_003070.5(SMARCA2):c.4218G>A:p.Val1406=	coding	Benign
9	2170525	C	T	C2170525T	SMARCA2	NM_003070.5(SMARCA2):c.4253+53C>T	noncoding	Benign
9	2181553	G	C	G2181553C	SMARCA2	NM_003070.5(SMARCA2):c.4254-18G>C	noncoding	Benign
9	2181722	G	A	G2181722A	SMARCA2	NM_003070.5(SMARCA2):c.4359+46G>A	noncoding	Benign
9	2181774	G	C	G2181774C	SMARCA2	NM_003070.5(SMARCA2):c.4359+98G>C	noncoding	Benign
9	2181854	C	T	C2181854T	SMARCA2	NM_003070.5(SMARCA2):c.4359+178C>T	noncoding	Benign
9	2182062	A	G	A2182062G	SMARCA2	NM_003070.5(SMARCA2):c.4360-79A>G	noncoding	Benign
9	2182125	C	G	C2182125G	SMARCA2	NM_003070.5(SMARCA2):c.4360-16C>G	noncoding	Benign/Likely_benign
9	2182127	A	T	A2182127T	SMARCA2	NM_003070.5(SMARCA2):c.4360-14A>T	noncoding	Benign
9	2182290	G	A	G2182290A	SMARCA2	NM_003070.5(SMARCA2):c.4461+48G>A	noncoding	Benign
9	2182437	T	C	T2182437C	SMARCA2	NM_003070.5(SMARCA2):c.4461+195T>C	noncoding	Benign
9	2185974	A	C	A2185974C	SMARCA2	NM_003070.5(SMARCA2):c.4462-122A>C	noncoding	Benign
9	2186244	C	T	C2186244T	SMARCA2	NM_003070.5(SMARCA2):c.4594+16C>T	noncoding	Benign
9	2186460	T	C	T2186460C	SMARCA2	NM_003070.5(SMARCA2):c.4594+232T>C	noncoding	Benign
9	2190981	T	G	T2190981G	SMARCA2	NM_003070.5(SMARCA2):c.4595-285T>G	noncoding	Benign
9	2191189	G	T	G2191189T	SMARCA2	NM_003070.5(SMARCA2):c.4595-77G>T	noncoding	Benign
9	2191225	T	A	T2191225A	SMARCA2	NM_003070.5(SMARCA2):c.4595-41T>A	noncoding	Benign
9	2191233	C	T	C2191233T	SMARCA2	NM_003070.5(SMARCA2):c.4595-33C>T	noncoding	Benign
9	2191244	A	G	A2191244G	SMARCA2	NM_003070.5(SMARCA2):c.4595-22A>G	noncoding	Benign
9	2191246	T	C	T2191246C	SMARCA2	NM_003070.5(SMARCA2):c.4595-20T>C	noncoding	Benign
9	2191402	T	C	T2191402C	SMARCA2	NM_003070.5(SMARCA2):c.4731T>C:p.Asp1577=	coding	Benign/Likely_benign
9	2191426	G	A	G2191426A	SMARCA2	NM_003070.5(SMARCA2):c.4737+18G>A	noncoding	Benign
9	2191725	C	T	C2191725T	SMARCA2	NM_003070.5(SMARCA2):c.4737+317C>T	noncoding	Benign
9	2192405	A	G	A2192405G	SMARCA2	NM_003070.5(SMARCA2):c.4738-299A>G	noncoding	Benign
9	2192676	C	G	C2192676G	SMARCA2	NM_003070.5(SMARCA2):c.4738-28C>G	noncoding	Benign
9	2639533	A	G	A2639533G	VLDLR	NM_003383.5(VLDLR):c.203-326A>G	noncoding	Benign
9	2639745	T	C	T2639745C	VLDLR	NM_003383.5(VLDLR):c.203-114T>C	noncoding	Benign
9	2640759	A	G	A2640759G	VLDLR	NM_003383.5(VLDLR):c.326-618A>G	noncoding	Benign
9	2643642	C	T	C2643642T	VLDLR	NM_003383.5(VLDLR):c.835C>T:p.Arg279Ter	coding	Pathogenic
9	2643769	T	C	T2643769C	VLDLR	NM_003383.5(VLDLR):c.943+19T>C	noncoding	Benign/Likely_benign
9	2644002	C	T	C2644002T	VLDLR	NM_003383.5(VLDLR):c.1066+43C>T	noncoding	Benign
9	2644468	C	A	C2644468A	VLDLR	NM_003383.5(VLDLR):c.1067-266C>A	noncoding	Benign
9	2645557	A	T	A2645557T	VLDLR	NM_003383.5(VLDLR):c.1313-17A>T	noncoding	Benign
9	2645559	A	C	A2645559C	VLDLR	NM_003383.5(VLDLR):c.1313-15A>C	noncoding	Benign
9	2646322	A	G	A2646322G	VLDLR	NM_003383.5(VLDLR):c.1485-12A>G	noncoding	Benign/Likely_benign
9	2651454	C	T	C2651454T	VLDLR	NM_003383.5(VLDLR):c.2291C>T:p.Thr764Met	coding	Benign/Likely_benign
9	2652829	G	A	G2652829A	VLDLR	NM_003383.5(VLDLR):c.2466G>A:p.Trp822Ter	coding	Pathogenic
9	2717946	C	T	C2717946T	KCNV2	NM_133497.4(KCNV2):c.207C>T:p.Asp69=	coding	Benign
9	2718064	C	T	C2718064T	KCNV2	NM_133497.4(KCNV2):c.325C>T:p.Gln109Ter	coding	Pathogenic
9	2718128	C	T	C2718128T	KCNV2	NM_133497.4(KCNV2):c.389C>T:p.Thr130Ile	coding	Benign/Likely_benign
9	2718169	G	T	G2718169T	KCNV2	NM_133497.4(KCNV2):c.430G>T:p.Glu144Ter	coding	Pathogenic
9	2718286	G	T	G2718286T	KCNV2	NM_133497.4(KCNV2):c.547G>T:p.Glu183Ter	coding	Pathogenic
9	2718352	G	T	G2718352T	KCNV2	NM_133497.4(KCNV2):c.613G>T:p.Glu205Ter	coding	Pathogenic
9	2718388	C	T	C2718388T	KCNV2	NM_133497.4(KCNV2):c.649C>T:p.Gln217Ter	coding	Pathogenic
9	2718480	G	A	G2718480A	KCNV2	NM_133497.4(KCNV2):c.741G>A:p.Trp247Ter	coding	Pathogenic
9	2718690	C	G	C2718690G	KCNV2	NM_133497.4(KCNV2):c.951C>G:p.Tyr317Ter	coding	Pathogenic
9	2718697	C	T	C2718697T	KCNV2	NM_133497.4(KCNV2):c.958C>T:p.Arg320Cys	coding	Pathogenic
9	2718765	C	T	C2718765T	KCNV2	NM_133497.4(KCNV2):c.1026C>T:p.Ala342=	coding	Benign/Likely_benign
9	2719047	G	A	G2719047A	KCNV2	NM_133497.4(KCNV2):c.1308G>A:p.Val436=	coding	Benign/Likely_benign
9	2719110	C	T	C2719110T	KCNV2	NM_133497.4(KCNV2):c.1356+15C>T	noncoding	Benign
9	2729569	A	C	A2729569C	KCNV2	NM_133497.4(KCNV2):c.1480A>C:p.Asn494His	coding	Benign
9	2729696	A	G	A2729696G	KCNV2	NM_133497.4(KCNV2):c.1607A>G:p.Asn536Ser	coding	Benign/Likely_benign
9	3828609	A	G	A3828609G	GLIS3	NM_001042413.2(GLIS3):c.2657-201T>C	noncoding	Benign
9	3828696	A	G	A3828696G	GLIS3	NM_001042413.2(GLIS3):c.2657-288T>C	noncoding	Benign
9	3828714	A	G	A3828714G	GLIS3	NM_001042413.2(GLIS3):c.2657-306T>C	noncoding	Benign
9	3829130	A	G	A3829130G	GLIS3	NM_001042413.2(GLIS3):c.2656+180T>C	noncoding	Benign
9	3829187	C	T	C3829187T	GLIS3	NM_001042413.2(GLIS3):c.2656+123G>A	noncoding	Benign
9	3829188	G	A	G3829188A	GLIS3	NM_001042413.2(GLIS3):c.2656+122C>T	noncoding	Benign
9	3829207	G	A	G3829207A	GLIS3	NM_001042413.2(GLIS3):c.2656+103C>T	noncoding	Benign
9	3829212	T	C	T3829212C	GLIS3	NM_001042413.2(GLIS3):c.2656+98A>G	noncoding	Benign
9	3829631	C	T	C3829631T	GLIS3	NM_001042413.2(GLIS3):c.2474-139G>A	noncoding	Benign
9	3829793	C	G	C3829793G	GLIS3	NM_001042413.2(GLIS3):c.2474-301G>C	noncoding	Benign
9	3856319	T	C	T3856319C	GLIS3	NM_001042413.2(GLIS3):c.2298-135A>G	noncoding	Benign
9	3879646	G	A	G3879646A	GLIS3	NM_001042413.2(GLIS3):c.2129-51C>T	noncoding	Benign
9	3879693	C	T	C3879693T	GLIS3	NM_001042413.2(GLIS3):c.2129-98G>A	noncoding	Benign
9	3879791	G	A	G3879791A	GLIS3	NM_001042413.2(GLIS3):c.2129-196C>T	noncoding	Benign
9	3879818	C	T	C3879818T	GLIS3	NM_001042413.2(GLIS3):c.2129-223G>A	noncoding	Benign
9	3881005	C	G	C3881005G	GLIS3	NM_001042413.2(GLIS3):c.2129-1410G>C	noncoding	Benign
9	3898436	A	G	A3898436G	GLIS3	NM_001042413.2(GLIS3):c.2128+255T>C	noncoding	Benign
9	3898509	A	T	A3898509T	GLIS3	NM_001042413.2(GLIS3):c.2128+182T>A	noncoding	Benign
9	3898987	A	G	A3898987G	GLIS3	NM_001042413.2(GLIS3):c.1984-152T>C	noncoding	Benign
9	3932283	C	G	C3932283G	GLIS3	NM_001042413.2(GLIS3):c.1983+77G>C	noncoding	Benign
9	3932521	T	C	T3932521C	GLIS3	NM_001042413.2(GLIS3):c.1873-51A>G	noncoding	Benign
9	3936736	A	C	A3936736C	GLIS3	NM_001042413.2(GLIS3):c.1872+292T>G	noncoding	Benign
9	3937255	T	A	T3937255A	GLIS3	NM_001042413.2(GLIS3):c.1711-66A>T	noncoding	Benign
9	3937288	G	A	G3937288A	GLIS3	NM_001042413.2(GLIS3):c.1711-99C>T	noncoding	Benign
9	3937351	A	G	A3937351G	GLIS3	NM_001042413.2(GLIS3):c.1711-162T>C	noncoding	Benign
9	4117602	C	T	C4117602T	GLIS3	NM_001042413.2(GLIS3):c.1710+166G>A	noncoding	Benign
9	4117713	C	T	C4117713T	GLIS3	NM_001042413.2(GLIS3):c.1710+55G>A	noncoding	Benign
9	4117969	G	A	G4117969A	GLIS3	NM_001042413.2(GLIS3):c.1509C>T:p.Arg503=	coding	Benign
9	4119049	C	T	C4119049T	GLIS3	NM_001042413.2(GLIS3):c.597-168G>A	noncoding	Benign
9	4119124	C	T	C4119124T	GLIS3	NM_001042413.2(GLIS3):c.597-243G>A	noncoding	Benign
9	4126189	G	A	G4126189A	GLIS3	NM_001042413.2(GLIS3):c.389-248C>T	noncoding	Benign
9	4285986	G	C	G4285986C	GLIS3	NM_001042413.2(GLIS3):c.388+52C>G	noncoding	Benign
9	4286603	A	G	A4286603G	GLIS3	NM_001042413.2(GLIS3):c.-98-80T>C	noncoding	Benign
9	4286655	A	C	A4286655C	GLIS3	NM_001042413.2(GLIS3):c.-98-132T>G	noncoding	Benign
9	4286672	C	T	C4286672T	GLIS3	NM_001042413.2(GLIS3):c.-98-149G>A	noncoding	Benign
9	4286816	A	G	A4286816G	GLIS3	NM_001042413.2(GLIS3):c.-98-293T>C	noncoding	Benign
9	4490134	T	G	T4490134G	SLC1A1	Single_allele	noncoding	Benign
9	4490207	C	A	C4490207A	SLC1A1	Single_allele	noncoding	Benign
9	4490880	T	C	T4490880C	SLC1A1	NM_004170.6(SLC1A1):c.91+110T>C	noncoding	Benign
9	4561374	C	T	C4561374T	SLC1A1	NM_004170.6(SLC1A1):c.233-75C>T	noncoding	Benign
9	4561421	T	C	T4561421C	SLC1A1	NM_004170.6(SLC1A1):c.233-28T>C	noncoding	Benign
9	4561426	T	C	T4561426C	SLC1A1	NM_004170.6(SLC1A1):c.233-23T>C	noncoding	Benign
9	4561596	G	A	G4561596A	SLC1A1	NM_004170.6(SLC1A1):c.325+55G>A	noncoding	Benign
9	4565834	A	G	A4565834G	SLC1A1	NM_004170.6(SLC1A1):c.441-213A>G	noncoding	Benign
9	4566210	A	C	A4566210C	SLC1A1	NM_004170.6(SLC1A1):c.483+121A>C	noncoding	Benign
9	4572476	C	T	C4572476T	SLC1A1	NM_004170.6(SLC1A1):c.767+88C>T	noncoding	Benign
9	4572480	T	C	T4572480C	SLC1A1	NM_004170.6(SLC1A1):c.767+92T>C	noncoding	Benign
9	4573586	G	T	G4573586T	SLC1A1	NM_004170.6(SLC1A1):c.768-321G>T	noncoding	Benign
9	4574045	C	G	C4574045G	SLC1A1	NM_004170.6(SLC1A1):c.875+31C>G	noncoding	Benign
9	4574081	G	T	G4574081T	SLC1A1	NM_004170.6(SLC1A1):c.875+67G>T	noncoding	Benign
9	4575673	A	G	A4575673G	SLC1A1	NM_004170.6(SLC1A1):c.876-328A>G	noncoding	Benign
9	4576167	G	A	G4576167A	SLC1A1	NM_004170.6(SLC1A1):c.998+44G>A	noncoding	Benign
9	4576451	T	G	T4576451G	SLC1A1	NM_004170.6(SLC1A1):c.999-118T>G	noncoding	Benign
9	4576851	G	C	G4576851C	SLC1A1	NM_004170.6(SLC1A1):c.1193+88G>C	noncoding	Benign
9	4582843	T	C	T4582843C	SLC1A1	NM_004170.6(SLC1A1):c.1194-195T>C	noncoding	Benign
9	4583375	G	A	G4583375A	SLC1A1	NM_004170.6(SLC1A1):c.1328+203G>A	noncoding	Benign
9	4827019	C	T	C4827019T	RCL1	NM_005772.5(RCL1):c.370C>T:p.Gln124Ter	coding	Pathogenic
9	5030080	T	C	T5030080C	JAK2	NM_004972.4(JAK2):c.350+174T>C	noncoding	Benign
9	5050910	C	T	C5050910T	JAK2	NM_004972.4(JAK2):c.614+79C>T	noncoding	Benign
9	5055015	C	T	C5055015T	JAK2	NM_004972.4(JAK2):c.936+131C>T	noncoding	Benign
9	5055434	C	T	C5055434T	JAK2	NM_004972.4(JAK2):c.937-235C>T	noncoding	Benign
9	5056037	A	G	A5056037G	JAK2	NM_004972.4(JAK2):c.1056+249A>G	noncoding	Benign
9	5066455	T	C	T5066455C	JAK2	NM_004972.4(JAK2):c.1215-223T>C	noncoding	Benign
9	5068755	T	G	T5068755G	JAK2	NM_004972.4(JAK2):c.1327-267T>G	noncoding	Benign
9	5069837	G	A	G5069837A	JAK2	NM_004972.4(JAK2):c.1514-88G>A	noncoding	Benign
9	5072182	C	T	C5072182T	JAK2	NM_004972.4(JAK2):c.1642-310C>T	noncoding	Benign
9	5072798	T	C	T5072798C	JAK2	NM_004972.4(JAK2):c.1776+172T>C	noncoding	Benign
9	5072846	G	A	G5072846A	JAK2	NM_004972.4(JAK2):c.1776+220G>A	noncoding	Benign
9	5077517	T	C	T5077517C	JAK2	NM_004972.4(JAK2):c.1929T>C:p.Asn643=	coding	Benign
9	5078046	G	C	G5078046C	JAK2	NM_004972.4(JAK2):c.1993-260G>C	noncoding	Benign
9	5078117	T	C	T5078117C	JAK2	NM_004972.4(JAK2):c.1993-189T>C	noncoding	Benign
9	5081585	A	G	A5081585G	JAK2	NM_004972.4(JAK2):c.2435-140A>G	noncoding	Benign
9	5090641	G	A	G5090641A	JAK2	NM_004972.4(JAK2):c.2886+71G>A	noncoding	Benign
9	5090934	A	T	A5090934T	JAK2	NM_004972.4(JAK2):c.3059+23A>T	noncoding	Benign
9	5122932	A	G	A5122932G	JAK2	NM_004972.4(JAK2):c.3060-72A>G	noncoding	Benign
9	5126542	T	G	T5126542G	JAK2	NM_004972.4(JAK2):c.3291+96T>G	noncoding	Benign
9	5126795	A	C	A5126795C	JAK2	NM_004972.4(JAK2):c.*4A>C	noncoding	Benign
9	5450497	G	C	G5450497C	CD274	Single_allele	noncoding	Benign
9	5467955	G	A	G5467955A	CD274	NM_014143.4(CD274):c.*93G>A	noncoding	Benign
9	5470497	A	G	A5470497G	CD274	NM_014143.4(CD274):c.*2635A>G	noncoding	Benign
9	5720172	C	G	C5720172G	RIC1	NM_020829.4(RIC1):c.441-10C>G	noncoding	Benign
9	5732483	T	C	T5732483C	RIC1	NM_020829.4(RIC1):c.812+4T>C	noncoding	Benign
9	5747390	C	A	C5747390A	RIC1	NM_020829.4(RIC1):c.1337C>A:p.Ser446Tyr	coding	Benign
9	5762533	A	C	A5762533C	RIC1	NM_020829.4(RIC1):c.1993-8A>C	noncoding	Benign
9	5774225	T	G	T5774225G	RIC1	NM_020829.4(RIC1):c.4251T>G:p.Thr1417=	coding	Benign
9	6534436	A	T	A6534436T	GLDC	NM_000170.3(GLDC):c.2919+272T>A	noncoding	Benign
9	6534466	G	A	G6534466A	GLDC	NM_000170.3(GLDC):c.2919+242C>T	noncoding	Benign
9	6534845	T	C	T6534845C	GLDC	NM_000170.3(GLDC):c.2839-57A>G	noncoding	Benign
9	6534936	A	G	A6534936G	GLDC	NM_000170.3(GLDC):c.2839-148T>C	noncoding	Benign
9	6534989	C	T	C6534989T	GLDC	NM_000170.3(GLDC):c.2839-201G>A	noncoding	Benign
9	6535057	C	T	C6535057T	GLDC	NM_000170.3(GLDC):c.2839-269G>A	noncoding	Benign
9	6535801	A	G	A6535801G	GLDC	NM_000170.3(GLDC):c.2838+263T>C	noncoding	Benign
9	6535887	T	C	T6535887C	GLDC	NM_000170.3(GLDC):c.2838+177A>G	noncoding	Benign
9	6535956	G	C	G6535956C	GLDC	NM_000170.3(GLDC):c.2838+108C>G	noncoding	Benign
9	6535975	G	T	G6535975T	GLDC	NM_000170.3(GLDC):c.2838+89C>A	noncoding	Benign
9	6536182	G	A	G6536182A	GLDC	NM_000170.3(GLDC):c.2720C>T:p.Pro907Leu	coding	Pathogenic
9	6536211	C	T	C6536211T	GLDC	NM_000170.3(GLDC):c.2691G>A:p.Trp897Ter	coding	Pathogenic
9	6540077	T	A	T6540077A	GLDC	NM_000170.3(GLDC):c.2639A>T:p.Asp880Val	coding	Pathogenic
9	6540120	C	G	C6540120G	GLDC	NM_000170.3(GLDC):c.2596G>C:p.Asp866His	coding	Pathogenic
9	6540341	T	C	T6540341C	GLDC	NM_000170.3(GLDC):c.2570-195A>G	noncoding	Benign
9	6550489	T	C	T6550489C	GLDC	NM_000170.3(GLDC):c.2569+314A>G	noncoding	Benign
9	6550534	A	G	A6550534G	GLDC	NM_000170.3(GLDC):c.2569+269T>C	noncoding	Benign
9	6550538	A	C	A6550538C	GLDC	NM_000170.3(GLDC):c.2569+265T>G	noncoding	Benign
9	6550542	G	A	G6550542A	GLDC	NM_000170.3(GLDC):c.2569+261C>T	noncoding	Benign
9	6550734	G	T	G6550734T	GLDC	NM_000170.3(GLDC):c.2569+69C>A	noncoding	Benign
9	6550890	G	A	G6550890A	GLDC	NM_000170.3(GLDC):c.2482C>T:p.Gln828Ter	coding	Pathogenic
9	6550902	T	A	T6550902A	GLDC	NM_000170.3(GLDC):c.2470A>T:p.Lys824Ter	coding	Pathogenic
9	6551214	G	C	G6551214C	GLDC	NM_000170.3(GLDC):c.2458-300C>G	noncoding	Benign
9	6553054	T	C	T6553054C	GLDC	NM_000170.3(GLDC):c.2457+314A>G	noncoding	Benign
9	6553380	C	T	C6553380T	GLDC	NM_000170.3(GLDC):c.2445G>A:p.Trp815Ter	coding	Pathogenic
9	6553411	C	T	C6553411T	GLDC	NM_000170.3(GLDC):c.2414G>A:p.Trp805Ter	coding	Pathogenic
9	6553501	T	C	T6553501C	GLDC	NM_000170.3(GLDC):c.2324A>G:p.His775Arg	coding	Pathogenic
9	6554380	G	A	G6554380A	GLDC	NM_000170.3(GLDC):c.2315+289C>T	noncoding	Benign
9	6554558	G	A	G6554558A	GLDC	NM_000170.3(GLDC):c.2315+111C>T	noncoding	Benign
9	6554589	G	C	G6554589C	GLDC	NM_000170.3(GLDC):c.2315+80C>G	noncoding	Benign
9	6554667	A	C	A6554667C	GLDC	NM_000170.3(GLDC):c.2315+2T>G	noncoding	Pathogenic
9	6554667	A	T	A6554667T	GLDC	NM_000170.3(GLDC):c.2315+2T>A	noncoding	Pathogenic/Likely_pathogenic
9	6554696	C	T	C6554696T	GLDC	NM_000170.3(GLDC):c.2288G>A:p.Gly763Asp	coding	Pathogenic
9	6554800	C	T	C6554800T	GLDC	NM_000170.3(GLDC):c.2203-19G>A	noncoding	Benign/Likely_benign
9	6554844	G	C	G6554844C	GLDC	NM_000170.3(GLDC):c.2203-63C>G	noncoding	Benign
9	6555079	A	G	A6555079G	GLDC	NM_000170.3(GLDC):c.2203-298T>C	noncoding	Benign
9	6555850	G	C	G6555850C	GLDC	NM_000170.3(GLDC):c.2202+303C>G	noncoding	Benign
9	6556134	G	A	G6556134A	GLDC	NM_000170.3(GLDC):c.2202+19C>T	noncoding	Benign
9	6556173	C	T	C6556173T	GLDC	NM_000170.3(GLDC):c.2182G>A:p.Gly728Arg	coding	Pathogenic/Likely_pathogenic
9	6556180	G	C	G6556180C	GLDC	NM_000170.3(GLDC):c.2175C>G:p.Tyr725Ter	coding	Pathogenic
9	6556188	G	A	G6556188A	GLDC	NM_000170.3(GLDC):c.2167C>T:p.Gln723Ter	coding	Pathogenic/Likely_pathogenic
9	6558592	A	T	A6558592T	GLDC	NM_000170.3(GLDC):c.2019T>A:p.Tyr673Ter	coding	Pathogenic
9	6558856	G	A	G6558856A	GLDC	NM_000170.3(GLDC):c.1927-172C>T	noncoding	Benign
9	6565377	G	A	G6565377A	GLDC	NM_000170.3(GLDC):c.1903C>T:p.Gln635Ter	coding	Pathogenic
9	6565382	A	C	A6565382C	GLDC	NM_000170.3(GLDC):c.1898T>G:p.Leu633Ter	coding	Pathogenic
9	6565384	G	C	G6565384C	GLDC	NM_000170.3(GLDC):c.1896C>G:p.Tyr632Ter	coding	Pathogenic
9	6565391	C	G	C6565391G	GLDC	NM_000170.3(GLDC):c.1889G>C:p.Arg630Pro	coding	Pathogenic
9	6565428	C	A	C6565428A	GLDC	NM_000170.3(GLDC):c.1852G>T:p.Gly618Ter	coding	Pathogenic
9	6565697	C	T	C6565697T	GLDC	NM_000170.3(GLDC):c.1851-268G>A	noncoding	Benign
9	6587054	A	T	A6587054T	GLDC	NM_000170.3(GLDC):c.1850+87T>A	noncoding	Benign
9	6587145	T	C	T6587145C	GLDC	NM_000170.3(GLDC):c.1846A>G:p.Asn616Asp	coding	Pathogenic
9	6587202	C	A	C6587202A	GLDC	NM_000170.3(GLDC):c.1789G>T:p.Glu597Ter	coding	Pathogenic
9	6587249	G	C	G6587249C	GLDC	NM_000170.3(GLDC):c.1742C>G:p.Pro581Arg	coding	Pathogenic/Likely_pathogenic
9	6587273	C	T	C6587273T	GLDC	NM_000170.3(GLDC):c.1718G>A:p.Trp573Ter	coding	Pathogenic
9	6587454	G	A	G6587454A	GLDC	NM_000170.3(GLDC):c.1708-171C>T	noncoding	Benign
9	6587505	C	T	C6587505T	GLDC	NM_000170.3(GLDC):c.1708-222G>A	noncoding	Benign
9	6588430	T	C	T6588430C	GLDC	NM_000170.3(GLDC):c.1678A>G:p.Met560Val	coding	Pathogenic
9	6588568	C	G	C6588568G	GLDC	NM_000170.3(GLDC):c.1665+50G>C	noncoding	Benign
9	6588672	G	C	G6588672C	GLDC	NM_000170.3(GLDC):c.1611C>G:p.Tyr537Ter	coding	Pathogenic
9	6588676	C	T	C6588676T	GLDC	NM_000170.3(GLDC):c.1607G>A:p.Arg536Gln	coding	Pathogenic
9	6588769	C	A	C6588769A	GLDC	NM_000170.3(GLDC):c.1581-67G>T	noncoding	Benign
9	6588820	C	T	C6588820T	GLDC	NM_000170.3(GLDC):c.1581-118G>A	noncoding	Benign
9	6589139	A	G	A6589139G	GLDC	NM_000170.3(GLDC):c.1580+56T>C	noncoding	Benign
9	6591862	A	G	A6591862G	GLDC	NM_000170.3(GLDC):c.1482+281T>C	noncoding	Benign
9	6591972	T	C	T6591972C	GLDC	NM_000170.3(GLDC):c.1482+171A>G	noncoding	Benign
9	6592121	C	T	C6592121T	GLDC	NM_000170.3(GLDC):c.1482+22G>A	noncoding	Benign
9	6592124	A	G	A6592124G	GLDC	NM_000170.3(GLDC):c.1482+19T>C	noncoding	Benign
9	6592214	A	G	A6592214G	GLDC	NM_000170.3(GLDC):c.1411T>C:p.Ser471Pro	coding	Pathogenic
9	6592307	C	T	C6592307T	GLDC	NM_000170.3(GLDC):c.1402-84G>A	noncoding	Benign
9	6592517	T	G	T6592517G	GLDC	NM_000170.3(GLDC):c.1402-294A>C	noncoding	Benign
9	6592522	A	G	A6592522G	GLDC	NM_000170.3(GLDC):c.1402-299T>C	noncoding	Benign
9	6592787	C	G	C6592787G	GLDC	NM_000170.3(GLDC):c.1401+64G>C	noncoding	Benign
9	6592803	A	G	A6592803G	GLDC	NM_000170.3(GLDC):c.1401+48T>C	noncoding	Benign
9	6592850	C	T	C6592850T	GLDC	NM_000170.3(GLDC):c.1401+1G>A	noncoding	Pathogenic/Likely_pathogenic
9	6593071	G	C	G6593071C	GLDC	NM_000170.3(GLDC):c.1262-81C>G	noncoding	Benign
9	6593198	A	C	A6593198C	GLDC	NM_000170.3(GLDC):c.1262-208T>G	noncoding	Benign
9	6593262	G	A	G6593262A	GLDC	NM_000170.3(GLDC):c.1262-272C>T	noncoding	Benign
9	6594680	G	A	G6594680A	GLDC	NM_000170.3(GLDC):c.1261+334C>T	noncoding	Benign
9	6594798	G	T	G6594798T	GLDC	NM_000170.3(GLDC):c.1261+216C>A	noncoding	Benign
9	6594942	C	T	C6594942T	GLDC	NM_000170.3(GLDC):c.1261+72G>A	noncoding	Benign
9	6594978	T	C	T6594978C	GLDC	NM_000170.3(GLDC):c.1261+36A>G	noncoding	Benign
9	6594995	A	G	A6594995G	GLDC	NM_000170.3(GLDC):c.1261+19T>C	noncoding	Benign
9	6595019	G	C	G6595019C	GLDC	NM_000170.3(GLDC):c.1256C>G:p.Ser419Ter	coding	Pathogenic
9	6595175	T	C	T6595175C	GLDC	NM_000170.3(GLDC):c.1156-56A>G	noncoding	Benign
9	6595272	T	A	T6595272A	GLDC	NM_000170.3(GLDC):c.1156-153A>T	noncoding	Benign
9	6595323	G	A	G6595323A	GLDC	NM_000170.3(GLDC):c.1156-204C>T	noncoding	Benign
9	6595412	T	C	T6595412C	GLDC	NM_000170.3(GLDC):c.1156-293A>G	noncoding	Benign
9	6602066	G	A	G6602066A	GLDC	NM_000170.3(GLDC):c.1155+43C>T	noncoding	Benign
9	6602122	A	G	A6602122G	GLDC	NM_000170.3(GLDC):c.1142T>C:p.Ile381Thr	coding	Pathogenic
9	6602146	C	T	C6602146T	GLDC	NM_000170.3(GLDC):c.1118G>A:p.Arg373Gln	coding	Pathogenic
9	6602156	G	A	G6602156A	GLDC	NM_000170.3(GLDC):c.1108C>T:p.Gln370Ter	coding	Pathogenic/Likely_pathogenic
9	6602156	G	T	G6602156T	GLDC	NM_000170.3(GLDC):c.1108C>A:p.Gln370Lys	coding	Pathogenic
9	6602181	A	C	A6602181C	GLDC	NM_000170.3(GLDC):c.1083T>G:p.Tyr361Ter	coding	Pathogenic
9	6602327	A	G	A6602327G	GLDC	NM_000170.3(GLDC):c.1059-122T>C	noncoding	Benign
9	6602374	C	T	C6602374T	GLDC	NM_000170.3(GLDC):c.1059-169G>A	noncoding	Benign
9	6604341	A	T	A6604341T	GLDC	NM_000170.3(GLDC):c.1058+247T>A	noncoding	Benign
9	6604444	T	A	T6604444A	GLDC	NM_000170.3(GLDC):c.1058+144A>T	noncoding	Benign
9	6604507	G	C	G6604507C	GLDC	NM_000170.3(GLDC):c.1058+81C>G	noncoding	Benign
9	6604591	G	C	G6604591C	GLDC	NM_000170.3(GLDC):c.1055C>G:p.Thr352Arg	coding	Pathogenic/Likely_pathogenic
9	6604605	T	G	T6604605G	GLDC	NM_000170.3(GLDC):c.1041A>C:p.Arg347Ser	coding	Pathogenic
9	6604703	C	T	C6604703T	GLDC	NM_000170.3(GLDC):c.943G>A:p.Gly315Ser	coding	Pathogenic
9	6604735	G	A	G6604735A	GLDC	NM_000170.3(GLDC):c.911C>T:p.Pro304Leu	coding	Pathogenic/Likely_pathogenic
9	6604774	C	T	C6604774T	GLDC	NM_000170.3(GLDC):c.872G>A:p.Cys291Tyr	coding	Pathogenic
9	6604785	C	G	C6604785G	GLDC	NM_000170.3(GLDC):c.862-1G>C	coding	Pathogenic
9	6604850	G	C	G6604850C	GLDC	NM_000170.3(GLDC):c.862-66C>G	noncoding	Benign
9	6604895	C	A	C6604895A	GLDC	NM_000170.3(GLDC):c.862-111G>T	noncoding	Benign
9	6604992	G	T	G6604992T	GLDC	NM_000170.3(GLDC):c.861+139C>A	noncoding	Benign
9	6605129	A	T	A6605129T	GLDC	NM_000170.3(GLDC):c.861+2T>A	noncoding	Pathogenic
9	6605145	C	G	C6605145G	GLDC	NM_000170.3(GLDC):c.847G>C:p.Ala283Pro	coding	Pathogenic/Likely_pathogenic
9	6605194	G	C	G6605194C	GLDC	NM_000170.3(GLDC):c.798C>G:p.Tyr266Ter	coding	Pathogenic
9	6605314	C	T	C6605314T	GLDC	NM_000170.3(GLDC):c.714-36G>A	noncoding	Benign
9	6606388	C	A	C6606388A	GLDC	NM_000170.3(GLDC):c.713+204G>T	noncoding	Benign
9	6606599	G	A	G6606599A	GLDC	NM_000170.3(GLDC):c.706C>T:p.Arg236Ter	coding	Pathogenic
9	6606698	G	A	G6606698A	GLDC	NM_000170.3(GLDC):c.636-29C>T	noncoding	Benign
9	6606746	T	C	T6606746C	GLDC	NM_000170.3(GLDC):c.636-77A>G	noncoding	Benign
9	6610322	A	G	A6610322G	GLDC	NM_000170.3(GLDC):c.505T>C:p.Ser169Pro	coding	Pathogenic
9	6610345	T	C	T6610345C	GLDC	NM_000170.3(GLDC):c.482A>G:p.Tyr161Cys	coding	Pathogenic/Likely_pathogenic
9	6610349	G	A	G6610349A	GLDC	NM_000170.3(GLDC):c.478C>T:p.Gln160Ter	coding	Pathogenic
9	6610463	A	G	A6610463G	GLDC	NM_000170.3(GLDC):c.471-107T>C	noncoding	Benign
9	6610588	T	G	T6610588G	GLDC	NM_000170.3(GLDC):c.471-232A>C	noncoding	Benign
9	6619995	C	G	C6619995G	GLDC	NM_000170.3(GLDC):c.470+189G>C	noncoding	Benign
9	6620007	C	T	C6620007T	GLDC	NM_000170.3(GLDC):c.470+177G>A	noncoding	Benign
9	6620059	A	G	A6620059G	GLDC	NM_000170.3(GLDC):c.470+125T>C	noncoding	Benign
9	6620108	G	A	G6620108A	GLDC	NM_000170.3(GLDC):c.470+76C>T	noncoding	Benign
9	6620188	C	G	C6620188G	GLDC	NM_000170.3(GLDC):c.466G>C:p.Gly156Arg	coding	Pathogenic
9	6620217	G	T	G6620217T	GLDC	NM_000170.3(GLDC):c.437C>A:p.Thr146Lys	coding	Pathogenic/Likely_pathogenic
9	6620229	G	T	G6620229T	GLDC	NM_000170.3(GLDC):c.425C>A:p.Ser142Ter	coding	Pathogenic/Likely_pathogenic
9	6644626	C	A	C6644626A	GLDC	NM_000170.3(GLDC):c.322G>T:p.Glu108Ter	coding	Pathogenic
9	6644909	T	G	T6644909G	GLDC	NM_000170.3(GLDC):c.256-217A>C	noncoding	Benign
9	6644925	C	G	C6644925G	GLDC	NM_000170.3(GLDC):c.256-233G>C	noncoding	Benign
9	6644932	C	T	C6644932T	GLDC	NM_000170.3(GLDC):c.256-240G>A	noncoding	Benign
9	6645291	G	C	G6645291C	GLDC	NM_000170.3(GLDC):c.209C>G:p.Pro70Arg	coding	Pathogenic
9	6645423	G	T	G6645423T	GLDC	NM_000170.3(GLDC):c.77C>A:p.Ser26Ter	coding	Pathogenic
9	6645477	C	T	C6645477T	GLDC	NM_000170.3(GLDC):c.23G>A:p.Trp8Ter	coding	Pathogenic/Likely_pathogenic
9	6645496	G	A	G6645496A	GLDC	NM_000170.3(GLDC):c.4C>T:p.Gln2Ter	coding	Pathogenic/Likely_pathogenic
9	6645911	C	T	C6645911T	GLDC	Single_allele	noncoding	Benign
9	8331548	C	T	C8331548T	PTPRD	NM_002839.4(PTPRD):c.5534+34G>A	noncoding	Benign
9	8389364	C	G	C8389364G	PTPRD	NM_002839.4(PTPRD):c.4254G>C:p.Gly1418=	coding	Benign
9	8518052	G	C	G8518052C	PTPRD	NM_002839.4(PTPRD):c.1339C>G:p.Gln447Glu	coding	Benign
9	12694191	T	A	T12694191A	TYRP1	NM_000550.3(TYRP1):c.195T>A:p.Cys65Ter	coding	Pathogenic
9	12694347	G	A	G12694347A	TYRP1	NM_000550.3(TYRP1):c.351G>A:p.Trp117Ter	coding	Pathogenic
9	12694401	A	C	A12694401C	TYRP1	NM_000550.3(TYRP1):c.385+20A>C	noncoding	Benign
9	12695547	G	T	G12695547T	TYRP1	NM_000550.3(TYRP1):c.418G>T:p.Glu140Ter	coding	Pathogenic
9	12695856	A	G	A12695856G	TYRP1	NM_000550.3(TYRP1):c.708+19A>G	noncoding	Benign/Likely_benign
9	12702423	C	T	C12702423T	TYRP1	NM_000550.3(TYRP1):c.1066C>T:p.Arg356Ter	coding	Pathogenic
9	12708049	C	A	C12708049A	TYRP1	NM_000550.3(TYRP1):c.1314C>A:p.Tyr438Ter	coding	Pathogenic
9	12708990	T	C	T12708990C	TYRP1	NM_000550.3(TYRP1):c.1422T>C:p.Ser474=	coding	Benign
9	13107122	T	C	T13107122C	MPDZ	NM_001378778.1(MPDZ):c.6067-11A>G	noncoding	Benign
9	13123200	G	A	G13123200A	MPDZ	NM_001378778.1(MPDZ):c.4906C>T:p.Arg1636Ter	coding	Pathogenic/Likely_pathogenic
9	13125219	G	A	G13125219A	MPDZ	NM_001378778.1(MPDZ):c.4804C>T:p.Arg1602Ter	coding	Pathogenic
9	13126609	G	C	G13126609C	MPDZ	NM_001378778.1(MPDZ):c.4558-19C>G	noncoding	Benign
9	13133810	C	A	C13133810A	MPDZ	NM_001378778.1(MPDZ):c.4464+14G>T	noncoding	Benign
9	13136155	G	A	G13136155A	MPDZ	NM_001378778.1(MPDZ):c.4320C>T:p.Ala1440=	coding	Benign
9	13136794	G	A	G13136794A	MPDZ	NM_001378778.1(MPDZ):c.4210C>T:p.Gln1404Ter	coding	Pathogenic
9	13158112	T	C	T13158112C	MPDZ	NM_001378778.1(MPDZ):c.3360-2A>G	noncoding	Pathogenic/Likely_pathogenic
9	13162674	T	C	T13162674C	MPDZ	NM_001378778.1(MPDZ):c.3359+17A>G	noncoding	Benign
9	13162680	G	T	G13162680T	MPDZ	NM_001378778.1(MPDZ):c.3359+11C>A	noncoding	Benign
9	13168394	T	G	T13168394G	MPDZ	NM_001378778.1(MPDZ):c.3226A>C:p.Arg1076=	coding	Benign
9	13168490	G	A	G13168490A	MPDZ	NM_001378778.1(MPDZ):c.3130C>T:p.Arg1044Ter	coding	Pathogenic
9	13175791	C	A	C13175791A	MPDZ	NM_001378778.1(MPDZ):c.3016G>T:p.Glu1006Ter	coding	Pathogenic
9	13176361	T	A	T13176361A	MPDZ	NM_001378778.1(MPDZ):c.2706A>T:p.Glu902Asp	coding	Benign
9	13188786	G	T	G13188786T	MPDZ	NM_001378778.1(MPDZ):c.2362C>A:p.Pro788Thr	coding	Benign
9	13188900	G	A	G13188900A	MPDZ	NM_001378778.1(MPDZ):c.2248C>T:p.Arg750Ter	coding	Pathogenic
9	13192202	G	A	G13192202A	MPDZ	NM_001378778.1(MPDZ):c.1897C>T:p.Arg633Ter	coding	Pathogenic
9	13192321	C	G	C13192321G	MPDZ	NM_001378778.1(MPDZ):c.1804-26G>C	noncoding	Benign
9	13193235	G	A	G13193235A	MPDZ	NM_001378778.1(MPDZ):c.1735C>T:p.Arg579Ter	coding	Pathogenic
9	13196106	G	C	G13196106C	MPDZ	NM_001378778.1(MPDZ):c.1656+15C>G	noncoding	Benign
9	13205023	G	A	G13205023A	MPDZ	NM_001378778.1(MPDZ):c.1546+13C>T	noncoding	Benign
9	13205906	A	C	A13205906C	MPDZ	NM_001378778.1(MPDZ):c.1474+10T>G	noncoding	Benign
9	13247743	C	G	C13247743G	MPDZ	NM_001378778.1(MPDZ):c.75G>C:p.Gly25=	coding	Benign
9	14155889	G	A	G14155889A	NFIB	NM_001190737.2(NFIB):c.621C>T:p.Tyr207_Leu208=	coding	Benign
9	14737618	A	G	A14737618G	FREM1	NM_001379081.2(FREM1):c.6341-23T>C	noncoding	Benign
9	14737745	C	A	C14737745A	FREM1	NM_001379081.2(FREM1):c.6341-150G>T	noncoding	Benign
9	14740063	A	G	A14740063G	FREM1	NM_001379081.2(FREM1):c.6340+86T>C	noncoding	Benign
9	14740218	C	T	C14740218T	FREM1	NM_001379081.2(FREM1):c.6271G>A:p.Val2091Ile	coding	Pathogenic
9	14740302	A	G	A14740302G	FREM1	NM_001379081.2(FREM1):c.6255-68T>C	noncoding	Benign
9	14740358	T	A	T14740358A	FREM1	NM_001379081.2(FREM1):c.6255-124A>T	noncoding	Benign
9	14746263	T	G	T14746263G	FREM1	NM_001379081.2(FREM1):c.6254+90A>C	noncoding	Benign
9	14746308	T	A	T14746308A	FREM1	NM_001379081.2(FREM1):c.6254+45A>T	noncoding	Benign
9	14746848	G	A	G14746848A	FREM1	NM_001379081.2(FREM1):c.6138+75C>T	noncoding	Benign
9	14747135	T	C	T14747135C	FREM1	NM_001379081.2(FREM1):c.6010-84A>G	noncoding	Benign
9	14747159	A	C	A14747159C	FREM1	NM_001379081.2(FREM1):c.6009+105T>G	noncoding	Benign
9	14748175	A	G	A14748175G	FREM1	NM_001379081.2(FREM1):c.5796+226T>C	noncoding	Benign
9	14756329	A	C	A14756329C	FREM1	NM_001379081.2(FREM1):c.5407+45T>G	noncoding	Benign
9	14756485	A	G	A14756485G	FREM1	NM_001379081.2(FREM1):c.5335-39T>C	noncoding	Benign
9	14759727	A	G	A14759727G	FREM1	NM_001379081.2(FREM1):c.5334+45T>C	noncoding	Benign
9	14759942	T	C	T14759942C	FREM1	NM_001379081.2(FREM1):c.5205-41A>G	noncoding	Benign
9	14770523	G	A	G14770523A	FREM1	NM_001379081.2(FREM1):c.5059+82C>T	noncoding	Benign
9	14770582	G	A	G14770582A	FREM1	NM_001379081.2(FREM1):c.5059+23C>T	noncoding	Benign
9	14770615	G	A	G14770615A	FREM1	NM_001379081.2(FREM1):c.5049C>T:p.Asn1683=	coding	Benign
9	14770723	G	A	G14770723A	FREM1	NM_001379081.2(FREM1):c.4941C>T:p.Tyr1647=	coding	Benign/Likely_benign
9	14770827	T	C	T14770827C	FREM1	NM_001379081.2(FREM1):c.4858-21A>G	noncoding	Benign
9	14775731	A	G	A14775731G	FREM1	NM_001379081.2(FREM1):c.4857+58T>C	noncoding	Benign
9	14784207	T	C	T14784207C	FREM1	NM_001379081.2(FREM1):c.4442+163A>G	noncoding	Benign
9	14784253	T	C	T14784253C	FREM1	NM_001379081.2(FREM1):c.4442+117A>G	noncoding	Benign
9	14784314	C	T	C14784314T	FREM1	NM_001379081.2(FREM1):c.4442+56G>A	noncoding	Benign
9	14784500	G	A	G14784500A	FREM1	NM_001379081.2(FREM1):c.4312C>T:p.Arg1438Ter	coding	Pathogenic
9	14784635	C	T	C14784635T	FREM1	NM_001379081.2(FREM1):c.4178-1G>A	coding	Pathogenic
9	14784667	A	G	A14784667G	FREM1	NM_001379081.2(FREM1):c.4178-33T>C	noncoding	Benign
9	14784780	T	G	T14784780G	FREM1	NM_001379081.2(FREM1):c.4178-146A>C	noncoding	Benign
9	14788888	T	C	T14788888C	FREM1	NM_001379081.2(FREM1):c.4177+31A>G	noncoding	Benign
9	14797301	C	G	C14797301G	FREM1	NM_001379081.2(FREM1):c.3839+197G>C	noncoding	Benign
9	14797302	G	A	G14797302A	FREM1	NM_001379081.2(FREM1):c.3839+196C>T	noncoding	Benign
9	14801894	A	G	A14801894G	FREM1	NM_001379081.2(FREM1):c.3472-20T>C	noncoding	Benign
9	14802094	C	A	C14802094A	FREM1	NM_001379081.2(FREM1):c.3472-220G>T	noncoding	Benign
9	14806904	G	A	G14806904A	FREM1	NM_001379081.2(FREM1):c.3089-58C>T	noncoding	Benign
9	14807784	G	A	G14807784A	FREM1	NM_001379081.2(FREM1):c.3088+156C>T	noncoding	Benign
9	14808327	C	T	C14808327T	FREM1	NM_001379081.2(FREM1):c.2894-193G>A	noncoding	Benign
9	14813186	C	T	C14813186T	FREM1	NM_001379081.2(FREM1):c.2641-122G>A	noncoding	Benign
9	14817044	C	T	C14817044T	FREM1	NM_001379081.2(FREM1):c.2547-173G>A	noncoding	Benign
9	14822968	T	C	T14822968C	FREM1	NM_001379081.2(FREM1):c.2337+192A>G	noncoding	Benign
9	14823141	T	C	T14823141C	FREM1	NM_001379081.2(FREM1):c.2337+19A>G	noncoding	Benign
9	14823409	T	C	T14823409C	FREM1	NM_001379081.2(FREM1):c.2170-82A>G	noncoding	Benign
9	14823426	C	T	C14823426T	FREM1	NM_001379081.2(FREM1):c.2170-99G>A	noncoding	Benign
9	14823916	T	C	T14823916C	FREM1	NM_001379081.2(FREM1):c.2169+109A>G	noncoding	Benign
9	14824288	A	G	A14824288G	FREM1	NM_001379081.2(FREM1):c.2079-173T>C	noncoding	Benign
9	14825144	G	A	G14825144A	FREM1	NM_001379081.2(FREM1):c.1882-152C>T	noncoding	Benign
9	14841389	C	G	C14841389G	FREM1	NM_001379081.2(FREM1):c.1881+58G>C	noncoding	Benign
9	14841606	A	G	A14841606G	FREM1	NM_001379081.2(FREM1):c.1739-17T>C	noncoding	Benign
9	14841635	A	G	A14841635G	FREM1	NM_001379081.2(FREM1):c.1739-46T>C	noncoding	Benign
9	14842269	T	C	T14842269C	FREM1	NM_001379081.2(FREM1):c.1738+47A>G	noncoding	Benign
9	14842887	A	G	A14842887G	FREM1	NM_001379081.2(FREM1):c.1394-227T>C	noncoding	Benign
9	14848894	A	G	A14848894G	FREM1	NM_001379081.2(FREM1):c.1153-121T>C	noncoding	Benign
9	14848917	T	A	T14848917A	FREM1	NM_001379081.2(FREM1):c.1153-144A>T	noncoding	Benign
9	14851705	G	A	G14851705A	FREM1	NM_001379081.2(FREM1):c.829-98C>T	noncoding	Benign
9	14851784	T	C	T14851784C	FREM1	NM_001379081.2(FREM1):c.829-177A>G	noncoding	Benign
9	14857520	C	G	C14857520G	FREM1	NM_001379081.2(FREM1):c.828+33G>C	noncoding	Benign
9	14868540	A	G	A14868540G	FREM1	NM_001379081.2(FREM1):c.234+204T>C	noncoding	Benign
9	14868655	A	T	A14868655T	FREM1	NM_001379081.2(FREM1):c.234+89T>A	noncoding	Benign
9	15249052	T	C	T15249052C	TTC39B	NM_152574.3(TTC39B):c.77+18862A>G	noncoding	Benign
9	15249433	A	C	A15249433C	TTC39B	NM_152574.3(TTC39B):c.77+18481T>G	noncoding	Benign
9	16435716	T	C	T16435716C	BNC2	NM_017637.6(BNC2):c.2478A>G:p.Leu826=	coding	Benign
9	16435850	T	C	T16435850C	BNC2	NM_017637.6(BNC2):c.2344A>G:p.Thr782Ala	coding	Benign
9	16436649	T	C	T16436649C	BNC2	NM_017637.6(BNC2):c.1545A>G:p.Ser515=	coding	Benign
9	16436907	C	T	C16436907T	BNC2	NM_017637.6(BNC2):c.1287G>A:p.Met429Ile	coding	Benign
9	16436954	G	C	G16436954C	BNC2	NM_017637.6(BNC2):c.1240C>G:p.Leu414Val	coding	Benign
9	16437278	G	C	G16437278C	BNC2	NM_017637.6(BNC2):c.916C>G:p.Pro306Ala	coding	Benign
9	16738405	T	A	T16738405A	BNC2	NM_017637.6(BNC2):c.84A>T:p.Ala28=	coding	Benign
9	19049059	T	C	T19049059C	RRAGA	NM_001287049.2(SAXO1):c.-158+150A>G	noncoding	Benign
9	19049219	A	C	A19049219C	RRAGA	NM_001287049.2(SAXO1):c.-168T>G	noncoding	Benign
9	19049514	T	G	T19049514G	RRAGA	NM_006570.5(RRAGA):c.-146T>G	noncoding	Benign
9	19049598	C	A	C19049598A	RRAGA	NM_006570.5(RRAGA):c.-62C>A	noncoding	Benign
9	20715278	G	T	G20715278T	FOCAD	NM_001375567.1(FOCAD):c.-32-44G>T	noncoding	Benign
9	20715313	T	C	T20715313C	FOCAD	NM_001375567.1(FOCAD):c.-32-9T>C	noncoding	Benign
9	20720600	A	C	A20720600C	FOCAD	NM_001375567.1(FOCAD):c.287+66A>C	noncoding	Benign
9	20740078	G	A	G20740078A	FOCAD	NM_001375567.1(FOCAD):c.288-158G>A	noncoding	Benign
9	20740434	A	T	A20740434T	FOCAD	NM_001375567.1(FOCAD):c.392+94A>T	noncoding	Benign
9	20758307	T	A	T20758307A	FOCAD	NM_001375567.1(FOCAD):c.494+116T>A	noncoding	Benign
9	20764957	C	T	C20764957T	FOCAD	NM_001375567.1(FOCAD):c.583C>T:p.Arg195Ter	coding	Pathogenic
9	20765098	A	G	A20765098G	FOCAD	NM_001375567.1(FOCAD):c.699+25A>G	noncoding	Benign
9	20765206	A	G	A20765206G	FOCAD	NM_001375567.1(FOCAD):c.699+133A>G	noncoding	Benign
9	20769823	C	T	C20769823T	FOCAD	NM_001375567.1(FOCAD):c.700-209C>T	noncoding	Benign
9	20769988	G	T	G20769988T	FOCAD	NM_001375567.1(FOCAD):c.700-44G>T	noncoding	Benign
9	20778527	T	G	T20778527G	FOCAD	NM_001375567.1(FOCAD):c.907-154T>G	noncoding	Benign
9	20778632	A	G	A20778632G	FOCAD	NM_001375567.1(FOCAD):c.907-49A>G	noncoding	Benign
9	20779005	A	G	A20779005G	FOCAD	NM_001375567.1(FOCAD):c.994+237A>G	noncoding	Benign
9	20779007	G	A	G20779007A	FOCAD	NM_001375567.1(FOCAD):c.994+239G>A	noncoding	Benign
9	20781980	C	A	C20781980A	FOCAD	NM_001375567.1(FOCAD):c.1197+51C>A	noncoding	Benign
9	20782101	T	C	T20782101C	FOCAD	NM_001375567.1(FOCAD):c.1197+172T>C	noncoding	Benign
9	20789160	A	T	A20789160T	FOCAD	NM_001375567.1(FOCAD):c.1198-191A>T	noncoding	Benign
9	20789232	T	A	T20789232A	FOCAD	NM_001375567.1(FOCAD):c.1198-119T>A	noncoding	Benign
9	20789842	C	T	C20789842T	FOCAD	NM_001375567.1(FOCAD):c.1455+234C>T	noncoding	Benign
9	20789870	A	G	A20789870G	FOCAD	NM_001375567.1(FOCAD):c.1455+262A>G	noncoding	Benign
9	20820883	A	G	A20820883G	FOCAD	NM_001375567.1(FOCAD):c.1663-58A>G	noncoding	Benign
9	20821219	G	T	G20821219T	FOCAD	NM_001375567.1(FOCAD):c.1793+148G>T	noncoding	Benign
9	20821288	C	T	C20821288T	FOCAD	NM_001375567.1(FOCAD):c.1793+217C>T	noncoding	Benign
9	20823315	C	A	C20823315A	FOCAD	NM_001375567.1(FOCAD):c.1920+200C>A	noncoding	Benign
9	20862325	G	C	G20862325C	FOCAD	NM_001375567.1(FOCAD):c.1921-253G>C	noncoding	Benign
9	20862356	G	A	G20862356A	FOCAD	NM_001375567.1(FOCAD):c.1921-222G>A	noncoding	Benign
9	20862507	G	A	G20862507A	FOCAD	NM_001375567.1(FOCAD):c.1921-71G>A	noncoding	Benign
9	20862516	A	C	A20862516C	FOCAD	NM_001375567.1(FOCAD):c.1921-62A>C	noncoding	Benign
9	20882118	T	C	T20882118C	FOCAD	NM_001375567.1(FOCAD):c.2503+62T>C	noncoding	Benign
9	20885192	C	T	C20885192T	FOCAD	NM_001375567.1(FOCAD):c.2587C>T:p.Arg863Ter	coding	Pathogenic
9	20885205	A	G	A20885205G	FOCAD	NM_001375567.1(FOCAD):c.2600A>G:p.Gln867Arg	coding	Benign
9	20916666	T	C	T20916666C	FOCAD	NM_001375567.1(FOCAD):c.2808-227T>C	noncoding	Benign
9	20916829	A	C	A20916829C	FOCAD	NM_001375567.1(FOCAD):c.2808-64A>C	noncoding	Benign
9	20917077	C	T	C20917077T	FOCAD	NM_001375567.1(FOCAD):c.2852+140C>T	noncoding	Benign
9	20923519	C	G	C20923519G	FOCAD	NM_001375567.1(FOCAD):c.2853-141C>G	noncoding	Benign
9	20923580	C	T	C20923580T	FOCAD	NM_001375567.1(FOCAD):c.2853-80C>T	noncoding	Benign
9	20923619	A	G	A20923619G	FOCAD	NM_001375567.1(FOCAD):c.2853-41A>G	noncoding	Benign
9	20926233	C	T	C20926233T	FOCAD	NM_001375567.1(FOCAD):c.2962-68C>T	noncoding	Benign
9	20929780	G	A	G20929780A	FOCAD	NM_001375567.1(FOCAD):c.3317+184G>A	noncoding	Benign
9	20932869	G	T	G20932869T	FOCAD	NM_001375567.1(FOCAD):c.3318-145G>T	noncoding	Benign
9	20944559	G	A	G20944559A	FOCAD	NM_001375567.1(FOCAD):c.3408-68G>A	noncoding	Benign
9	20946953	T	C	T20946953C	FOCAD	NM_001375567.1(FOCAD):c.3675+133T>C	noncoding	Benign
9	20947022	G	A	G20947022A	FOCAD	NM_001375567.1(FOCAD):c.3675+202G>A	noncoding	Benign
9	20948312	A	G	A20948312G	FOCAD	NM_001375567.1(FOCAD):c.3717A>G:p.Gly1239=	coding	Benign
9	20948796	A	G	A20948796G	FOCAD	NM_001375567.1(FOCAD):c.3799-55A>G	noncoding	Benign
9	20949160	C	T	C20949160T	FOCAD	NM_001375567.1(FOCAD):c.3876+232C>T	noncoding	Benign
9	20953050	A	G	A20953050G	FOCAD	NM_001375567.1(FOCAD):c.4117A>G:p.Thr1373Ala	coding	Benign
9	20953234	A	G	A20953234G	FOCAD	NM_001375567.1(FOCAD):c.4132+169A>G	noncoding	Benign
9	20953261	G	T	G20953261T	FOCAD	NM_001375567.1(FOCAD):c.4132+196G>T	noncoding	Benign
9	20976299	C	T	C20976299T	FOCAD	NM_001375567.1(FOCAD):c.4133-121C>T	noncoding	Benign
9	20978307	A	G	A20978307G	FOCAD	NM_001375567.1(FOCAD):c.4262-32A>G	noncoding	Benign
9	20978313	A	G	A20978313G	FOCAD	NM_001375567.1(FOCAD):c.4262-26A>G	noncoding	Benign
9	20982329	T	G	T20982329G	FOCAD	NM_001375567.1(FOCAD):c.4639-28T>G	noncoding	Benign
9	20982504	T	G	T20982504G	FOCAD	NM_001375567.1(FOCAD):c.4728+58T>G	noncoding	Benign
9	20982516	G	C	G20982516C	FOCAD	NM_001375567.1(FOCAD):c.4728+70G>C	noncoding	Benign
9	20988429	G	C	G20988429C	FOCAD	NM_001375567.1(FOCAD):c.5004G>C:p.Lys1668Asn	coding	Pathogenic
9	20990100	C	T	C20990100T	FOCAD	NM_001375567.1(FOCAD):c.5005-23C>T	noncoding	Benign
9	20993462	T	G	T20993462G	FOCAD	NM_001375567.1(FOCAD):c.5332+134T>G	noncoding	Benign
9	20995329	G	A	G20995329A	FOCAD	NM_001375567.1(FOCAD):c.5333-227G>A	noncoding	Benign
9	21187122	T	A	T21187122A	IFNA4	NM_021068.4(IFNA4):c.410A>T:p.Glu137Val	coding	Benign
9	21187312	C	T	C21187312T	IFNA4	NM_021068.4(IFNA4):c.220G>A:p.Ala74Thr	coding	Benign
9	21333027	T	C	T21333027C	KLHL9	NM_018847.4(KLHL9):c.1833A>G:p.Ser611=	coding	Benign
9	21333030	A	G	A21333030G	KLHL9	NM_018847.4(KLHL9):c.1830T>C:p.Leu610=	coding	Benign
9	21333255	T	C	T21333255C	KLHL9	NM_018847.4(KLHL9):c.1605A>G:p.Gln535=	coding	Benign
9	21333448	T	C	T21333448C	KLHL9	NM_018847.4(KLHL9):c.1412A>G:p.Asp471Gly	coding	Benign
9	21333868	G	A	G21333868A	KLHL9	NM_018847.4(KLHL9):c.992C>T:p.Ala331Val	coding	Benign
9	21334329	G	A	G21334329A	KLHL9	NM_018847.4(KLHL9):c.531C>T:p.Ile177=	coding	Benign
9	21334809	C	T	C21334809T	KLHL9	NM_018847.4(KLHL9):c.51G>A:p.Gln17=	coding	Benign
9	21802470	A	G	A21802470G	MTAP	Single_allele	noncoding	Benign
9	21802471	A	G	A21802471G	MTAP	Single_allele	noncoding	Benign
9	21802923	C	G	C21802923G	MTAP	NM_002451.4(MTAP):c.33+142C>G	noncoding	Benign
9	21815167	G	T	G21815167T	MTAP	NM_002451.4(MTAP):c.34-266G>T	noncoding	Benign
9	21815798	C	T	C21815798T	MTAP	NM_002451.4(MTAP):c.120+279C>T	noncoding	Benign
9	21816529	A	G	A21816529G	MTAP	NM_002451.4(MTAP):c.121-185A>G	noncoding	Benign
9	21816574	G	A	G21816574A	MTAP	NM_002451.4(MTAP):c.121-140G>A	noncoding	Benign
9	21816638	T	C	T21816638C	MTAP	NM_002451.4(MTAP):c.121-76T>C	noncoding	Benign
9	21816647	A	G	A21816647G	MTAP	NM_002451.4(MTAP):c.121-67A>G	noncoding	Benign
9	21817755	A	G	A21817755G	MTAP	NM_002451.4(MTAP):c.180-280A>G	noncoding	Benign
9	21817778	T	C	T21817778C	MTAP	NM_002451.4(MTAP):c.180-257T>C	noncoding	Benign
9	21818012	C	T	C21818012T	MTAP	NM_002451.4(MTAP):c.180-23C>T	noncoding	Benign
9	21818311	C	T	C21818311T	MTAP	NM_002451.4(MTAP):c.347+109C>T	noncoding	Benign
9	21837700	C	T	C21837700T	MTAP	NM_002451.4(MTAP):c.348-208C>T	noncoding	Benign
9	21838146	A	G	A21838146G	MTAP	NM_002451.4(MTAP):c.450+136A>G	noncoding	Benign
9	21838180	C	A	C21838180A	MTAP	NM_002451.4(MTAP):c.450+170C>A	noncoding	Benign
9	21855039	G	A	G21855039A	MTAP	NM_002451.4(MTAP):c.690+169G>A	noncoding	Benign
9	21855097	G	T	G21855097T	MTAP	NM_002451.4(MTAP):c.690+227G>T	noncoding	Benign
9	21859195	G	T	G21859195T	MTAP	NM_002451.4(MTAP):c.691-108G>T	noncoding	Benign
9	21861904	T	G	T21861904G	MTAP	NM_002451.4(MTAP):c.814-72T>G	noncoding	Benign
9	21967856	G	C	G21967856C	CDKN2A	NM_000077.5(CDKN2A):c.*373C>G	noncoding	Benign
9	21968006	C	A	C21968006A	CDKN2A	NM_000077.5(CDKN2A):c.*223G>T	noncoding	Benign
9	21968160	G	A	G21968160A	CDKN2A	NM_000077.5(CDKN2A):c.*69C>T	noncoding	Benign
9	21968200	C	G	C21968200G	CDKN2A	NM_000077.5(CDKN2A):c.*29G>C	noncoding	Benign
9	21968241	G	A	G21968241A	CDKN2A	NM_000077.5(CDKN2A):c.459C>T:p.Asp153=	coding	Benign/Likely_benign
9	21968713	C	A	C21968713A	CDKN2A	NM_000077.5(CDKN2A):c.458-471G>T	coding	Benign
9	21970998	G	A	G21970998A	CDKN2A	NM_000077.5(CDKN2A):c.361C>T:p.Leu121=	coding	Benign/Likely_benign
9	21971058	C	A	C21971058A	CDKN2A	NM_000077.5(CDKN2A):c.301G>T:p.Gly101Trp	coding	Pathogenic
9	21971110	G	C	G21971110C	CDKN2A	NM_000077.5(CDKN2A):c.249C>G:p.His83Gln	coding	Pathogenic
9	21971165	A	G	A21971165G	CDKN2A	NM_000077.5(CDKN2A):c.194T>C:p.Leu65Pro	coding	Pathogenic/Likely_pathogenic
9	21971210	T	C	T21971210C	CDKN2A	NM_000077.5(CDKN2A):c.151-2A>G	noncoding	Pathogenic/Likely_pathogenic
9	21971990	C	G	C21971990G	CDKN2A	NM_000077.5(CDKN2A):c.151-782G>C	noncoding	Benign
9	21974219	A	G	A21974219G	CDKN2A	NM_000077.5(CDKN2A):c.150+459T>C	noncoding	Benign
9	21974679	T	C	T21974679C	CDKN2A	NM_000077.5(CDKN2A):c.149A>G:p.Gln50Arg	coding	Pathogenic/Likely_pathogenic
9	21974682	A	C	A21974682C	CDKN2A	NM_000077.5(CDKN2A):c.146T>G:p.Ile49Ser	coding	Pathogenic/Likely_pathogenic
9	21974752	C	A	C21974752A	CDKN2A	NM_000077.5(CDKN2A):c.76G>T:p.Glu26Ter	coding	Pathogenic
9	21974760	C	T	C21974760T	CDKN2A	NM_000077.5(CDKN2A):c.68G>A:p.Gly23Asp	coding	Pathogenic/Likely_pathogenic
9	21974860	C	G	C21974860G	CDKN2A	NM_058195.4(CDKN2A):c.194-3652G>C	coding	Benign/Likely_benign
9	21975018	C	T	C21975018T	CDKN2A	NM_058195.4(CDKN2A):c.194-3810G>A	coding	Benign
9	21984662	A	C	A21984662C	CDKN2A	NM_058195.4(CDKN2A):c.193+9477T>G	noncoding	Benign
9	21993965	T	C	T21993965C	CDKN2A	NM_058195.4(CDKN2A):c.193+174A>G	noncoding	Benign
9	21994139	C	G	C21994139G	CDKN2A	NM_058195.4(CDKN2A):c.193G>C:p.Gly65Arg	coding	Pathogenic/Likely_pathogenic
9	22103342	T	G	T22103342G	CDKN2B-AS1	Single_allele	noncoding	Benign
9	26905880	T	C	T26905880C	PLAA	NM_001031689.3(PLAA):c.2019A>G:p.Gln673=	coding	Benign
9	26907910	T	C	T26907910C	PLAA	NM_001031689.3(PLAA):c.1746A>G:p.Leu582=	coding	Benign
9	26907939	A	G	A26907939G	PLAA	NM_001031689.3(PLAA):c.1717T>C:p.Leu573=	coding	Benign
9	26917091	T	A	T26917091A	PLAA	NM_001031689.3(PLAA):c.1486+6A>T	noncoding	Benign
9	26919291	A	T	A26919291T	PLAA	NM_001031689.3(PLAA):c.1417+19T>A	noncoding	Benign
9	26919542	T	C	T26919542C	PLAA	NM_001031689.3(PLAA):c.1198-13A>G	noncoding	Benign
9	26923236	G	A	G26923236A	PLAA	NM_001031689.3(PLAA):c.981C>T:p.Gly327=	coding	Benign
9	26923305	T	C	T26923305C	PLAA	NM_001031689.3(PLAA):c.912A>G:p.Thr304=	coding	Benign
9	26925806	T	C	T26925806C	PLAA	NM_001031689.3(PLAA):c.869+19A>G	noncoding	Benign
9	26925833	A	T	A26925833T	PLAA	NM_001031689.3(PLAA):c.861T>A:p.Val287=	coding	Pathogenic
9	26925975	T	C	T26925975C	PLAA	NM_001031689.3(PLAA):c.734-15A>G	noncoding	Benign
9	26926412	G	A	G26926412A	PLAA	NM_001031689.3(PLAA):c.714C>T:p.Ser238=	coding	Benign
9	26928401	A	G	A26928401G	PLAA	NM_001031689.3(PLAA):c.351T>C:p.Ser117=	coding	Benign
9	26961838	C	T	C26961838T	IFT74	NM_025103.4(IFT74):c.-19-111C>T	noncoding	Benign
9	26962172	C	A	C26962172A	IFT74	NM_025103.4(IFT74):c.120+85C>A	noncoding	Benign
9	26962407	C	A	C26962407A	IFT74	NM_025103.4(IFT74):c.120+320C>A	noncoding	Benign
9	26977804	A	G	A26977804G	IFT74	NM_025103.4(IFT74):c.121-324A>G	noncoding	Benign
9	26978172	A	G	A26978172G	IFT74	NM_025103.4(IFT74):c.165A>G:p.Ile55Met	coding	Benign
9	26978260	A	T	A26978260T	IFT74	NM_025103.4(IFT74):c.253A>T:p.Lys85Ter	coding	Pathogenic
9	26978261	A	G	A26978261G	IFT74	NM_025103.4(IFT74):c.254A>G:p.Lys85Arg	coding	Benign
9	26978263	G	A	G26978263A	IFT74	NM_025103.4(IFT74):c.256G>A:p.Gly86Ser	coding	Pathogenic
9	26978552	T	C	T26978552C	IFT74	NM_025103.4(IFT74):c.256+289T>C	noncoding	Benign
9	26980415	A	G	A26980415G	IFT74	NM_025103.4(IFT74):c.257-156A>G	noncoding	Benign
9	26980617	T	A	T26980617A	IFT74	NM_025103.4(IFT74):c.303T>A:p.Leu101=	coding	Benign
9	26980881	C	T	C26980881T	IFT74	NM_025103.4(IFT74):c.305+262C>T	noncoding	Benign
9	26984233	A	G	A26984233G	IFT74	NM_025103.4(IFT74):c.306-24A>G	noncoding	Pathogenic
9	26984279	A	G	A26984279G	IFT74	NM_025103.4(IFT74):c.328A>G:p.Thr110Ala	coding	Benign
9	26988573	A	G	A26988573G	IFT74	NM_025103.4(IFT74):c.466-96A>G	noncoding	Benign
9	26988785	G	A	G26988785A	IFT74	NM_025103.4(IFT74):c.525+57G>A	noncoding	Benign
9	27009102	T	C	T27009102C	IFT74	NM_025103.4(IFT74):c.670T>C:p.Phe224Leu	coding	Benign
9	27009241	C	T	C27009241T	IFT74	NM_025103.4(IFT74):c.726+83C>T	noncoding	Benign
9	27009307	C	T	C27009307T	IFT74	NM_025103.4(IFT74):c.726+149C>T	noncoding	Benign
9	27009346	C	A	C27009346A	IFT74	NM_025103.4(IFT74):c.726+188C>A	noncoding	Benign
9	27011906	G	C	G27011906C	IFT74	NM_025103.4(IFT74):c.727G>C:p.Glu243Gln	coding	Benign
9	27016652	C	G	C27016652G	IFT74	NM_025103.4(IFT74):c.790-255C>G	noncoding	Benign
9	27016889	C	G	C27016889G	IFT74	NM_025103.4(IFT74):c.790-18C>G	noncoding	Benign
9	27018377	C	A	C27018377A	IFT74	NM_025103.4(IFT74):c.934-270C>A	noncoding	Benign
9	27028949	A	G	A27028949G	IFT74	NM_025103.4(IFT74):c.975-76A>G	noncoding	Benign
9	27029074	C	T	C27029074T	IFT74	NM_025103.4(IFT74):c.1024C>T:p.Gln342Ter	coding	Pathogenic
9	27044566	A	T	A27044566T	IFT74	NM_025103.4(IFT74):c.1055-176A>T	noncoding	Benign
9	27044589	G	A	G27044589A	IFT74	NM_025103.4(IFT74):c.1055-153G>A	noncoding	Benign
9	27047243	A	T	A27047243T	IFT74	NM_025103.4(IFT74):c.1109-31A>T	noncoding	Benign
9	27047248	T	C	T27047248C	IFT74	NM_025103.4(IFT74):c.1109-26T>C	noncoding	Benign
9	27047369	C	T	C27047369T	IFT74	NM_025103.4(IFT74):c.1204C>T:p.Arg402Ter	coding	Pathogenic
9	27047462	T	C	T27047462C	IFT74	NM_025103.4(IFT74):c.1206+91T>C	noncoding	Benign
9	27048313	A	T	A27048313T	IFT74	NM_025103.4(IFT74):c.1333+39A>T	noncoding	Benign
9	27048533	T	A	T27048533A	IFT74	NM_025103.4(IFT74):c.1333+259T>A	noncoding	Benign
9	27056378	C	T	C27056378T	IFT74	NM_025103.4(IFT74):c.1542C>T:p.Ala514=	coding	Benign
9	27062723	C	T	C27062723T	IFT74	NM_025103.4(IFT74):c.1790C>T:p.Thr597Ile	coding	Benign
9	27108812	G	T	G27108812T	TEK	Single_allele	noncoding	Benign
9	27108977	C	T	C27108977T	TEK	Single_allele	noncoding	Benign
9	27168317	G	A	G27168317A	TEK	NM_000459.5(TEK):c.365-178G>A	noncoding	Benign
9	27168435	A	G	A27168435G	TEK	NM_000459.5(TEK):c.365-60A>G	noncoding	Benign
9	27168470	G	A	G27168470A	TEK	NM_000459.5(TEK):c.365-25G>A	noncoding	Benign
9	27168706	T	C	T27168706C	TEK	NM_000459.5(TEK):c.475+101T>C	noncoding	Benign
9	27172840	C	A	C27172840A	TEK	NM_000459.5(TEK):c.760+93C>A	noncoding	Benign
9	27173064	G	T	G27173064T	TEK	NM_000459.5(TEK):c.761-158G>T	noncoding	Benign
9	27173182	C	T	C27173182T	TEK	NM_000459.5(TEK):c.761-40C>T	noncoding	Benign
9	27173431	T	C	T27173431C	TEK	NM_000459.5(TEK):c.901+69T>C	noncoding	Benign
9	27183465	A	C	A27183465C	TEK	NM_000459.5(TEK):c.1037A>C:p.Gln346Pro	coding	Benign
9	27185253	C	T	C27185253T	TEK	NM_000459.5(TEK):c.1183-232C>T	noncoding	Benign
9	27185764	T	G	T27185764G	TEK	NM_000459.5(TEK):c.1327+135T>G	noncoding	Benign
9	27190251	G	T	G27190251T	TEK	NM_000459.5(TEK):c.1328-278G>T	noncoding	Benign
9	27190892	C	T	C27190892T	TEK	NM_000459.5(TEK):c.1489+202C>T	noncoding	Benign
9	27190951	T	C	T27190951C	TEK	NM_000459.5(TEK):c.1489+261T>C	noncoding	Benign
9	27190994	C	T	C27190994T	TEK	NM_000459.5(TEK):c.1489+304C>T	noncoding	Benign
9	27192332	G	A	G27192332A	TEK	NM_000459.5(TEK):c.1490-157G>A	noncoding	Benign
9	27192679	G	A	G27192679A	TEK	NM_000459.5(TEK):c.1624+56G>A	noncoding	Benign
9	27197284	T	G	T27197284G	TEK	NM_000459.5(TEK):c.1625-31T>G	noncoding	Benign
9	27197452	C	T	C27197452T	TEK	NM_000459.5(TEK):c.1762C>T:p.Gln588Ter	coding	Pathogenic
9	27197675	G	T	G27197675T	TEK	NM_000459.5(TEK):c.1909+76G>T	noncoding	Benign
9	27202664	C	T	C27202664T	TEK	NM_000459.5(TEK):c.1910-156C>T	noncoding	Benign
9	27202665	G	A	G27202665A	TEK	NM_000459.5(TEK):c.1910-155G>A	noncoding	Benign
9	27202728	A	T	A27202728T	TEK	NM_000459.5(TEK):c.1910-92A>T	noncoding	Benign
9	27202729	T	C	T27202729C	TEK	NM_000459.5(TEK):c.1910-91T>C	noncoding	Benign
9	27204706	T	A	T27204706A	TEK	NM_000459.5(TEK):c.2210-205T>A	noncoding	Benign
9	27204707	T	A	T27204707A	TEK	NM_000459.5(TEK):c.2210-204T>A	noncoding	Benign
9	27204800	G	A	G27204800A	TEK	NM_000459.5(TEK):c.2210-111G>A	noncoding	Benign
9	27204804	A	G	A27204804G	TEK	NM_000459.5(TEK):c.2210-107A>G	noncoding	Benign
9	27204929	G	C	G27204929C	TEK	NM_000459.5(TEK):c.2228G>C:p.Gly743Ala	coding	Benign
9	27205237	T	A	T27205237A	TEK	NM_000459.5(TEK):c.2364+172T>A	noncoding	Benign
9	27205280	G	T	G27205280T	TEK	NM_000459.5(TEK):c.2364+215G>T	noncoding	Benign
9	27206309	A	C	A27206309C	TEK	NM_000459.5(TEK):c.2365-273A>C	noncoding	Benign
9	27206827	G	T	G27206827T	TEK	NM_000459.5(TEK):c.2575+35G>T	noncoding	Benign
9	27208859	G	T	G27208859T	TEK	NM_000459.5(TEK):c.2576-262G>T	noncoding	Benign
9	27209424	G	A	G27209424A	TEK	NM_000459.5(TEK):c.2686+193G>A	noncoding	Benign
9	27212709	T	C	T27212709C	TEK	NM_000459.5(TEK):c.2689T>C:p.Tyr897His	coding	Pathogenic
9	27212760	C	T	C27212760T	TEK	NM_000459.5(TEK):c.2740C>T:p.Leu914Phe	coding	Pathogenic
9	27212763	C	T	C27212763T	TEK	NM_000459.5(TEK):c.2743C>T:p.Arg915Cys	coding	Pathogenic
9	27212772	C	T	C27212772T	TEK	NM_000459.5(TEK):c.2752C>T:p.Arg918Cys	coding	Pathogenic
9	27212816	C	T	C27212816T	TEK	NM_000459.5(TEK):c.2796C>T:p.Thr932=	coding	Benign
9	27212968	T	C	T27212968C	TEK	NM_000459.5(TEK):c.2877+71T>C	noncoding	Benign
9	27213063	G	A	G27213063A	TEK	NM_000459.5(TEK):c.2877+166G>A	noncoding	Benign
9	27213371	T	C	T27213371C	TEK	NM_000459.5(TEK):c.2878-113T>C	noncoding	Benign
9	27213614	G	C	G27213614C	TEK	NM_000459.5(TEK):c.2991+17G>C	noncoding	Benign
9	27213774	C	T	C27213774T	TEK	NM_000459.5(TEK):c.2991+177C>T	noncoding	Benign
9	27217385	G	T	G27217385T	TEK	NM_000459.5(TEK):c.2992-303G>T	noncoding	Benign
9	27217399	G	A	G27217399A	TEK	NM_000459.5(TEK):c.2992-289G>A	noncoding	Benign
9	27217524	G	A	G27217524A	TEK	NM_000459.5(TEK):c.2992-164G>A	noncoding	Benign
9	27217812	C	T	C27217812T	TEK	NM_000459.5(TEK):c.3062+54C>T	noncoding	Benign
9	27217824	G	A	G27217824A	TEK	NM_000459.5(TEK):c.3062+66G>A	noncoding	Benign
9	27217853	G	C	G27217853C	TEK	NM_000459.5(TEK):c.3062+95G>C	noncoding	Benign
9	27217949	T	C	T27217949C	TEK	NM_000459.5(TEK):c.3062+191T>C	noncoding	Benign
9	27217994	T	G	T27217994G	TEK	NM_000459.5(TEK):c.3062+236T>G	noncoding	Benign
9	27218717	C	A	C27218717A	TEK	NM_000459.5(TEK):c.3063-60C>A	noncoding	Benign
9	27218728	C	T	C27218728T	TEK	NM_000459.5(TEK):c.3063-49C>T	noncoding	Benign
9	27218962	A	T	A27218962T	TEK	NM_000459.5(TEK):c.3103+145A>T	noncoding	Benign
9	27219022	C	G	C27219022G	TEK	NM_000459.5(TEK):c.3103+205C>G	noncoding	Benign
9	27219060	G	A	G27219060A	TEK	NM_000459.5(TEK):c.3103+243G>A	noncoding	Benign
9	27228024	A	G	A27228024G	TEK	NM_000459.5(TEK):c.3201-182A>G	noncoding	Benign
9	27228060	T	G	T27228060G	TEK	NM_000459.5(TEK):c.3201-146T>G	noncoding	Benign
9	27228300	C	T	C27228300T	TEK	NM_000459.5(TEK):c.3295C>T:p.Arg1099Ter	coding	Pathogenic
9	27228505	C	T	C27228505T	TEK	NM_000459.5(TEK):c.3300+200C>T	noncoding	Benign
9	27228534	G	A	G27228534A	TEK	NM_000459.5(TEK):c.3300+229G>A	noncoding	Benign
9	27228566	G	A	G27228566A	TEK	NM_000459.5(TEK):c.3300+261G>A	noncoding	Benign
9	27229101	G	A	G27229101A	TEK	NM_000459.5(TEK):c.3301-57G>A	noncoding	Benign
9	27229181	T	A	T27229181A	TEK	NM_000459.5(TEK):c.3324T>A:p.Tyr1108Ter	coding	Pathogenic
9	27229182	G	T	G27229182T	TEK	NM_000459.5(TEK):c.3325G>T:p.Glu1109Ter	coding	Pathogenic
9	27229200	G	T	G27229200T	TEK	NM_000459.5(TEK):c.3343G>T:p.Gly1115Ter	coding	Pathogenic
9	27562354	T	C	T27562354C	C9orf72	NM_018325.5(C9orf72):c.600+27A>G	noncoding	Benign
9	32457191	T	C	T32457191C	RIGI	NM_014314.4(RIGI):c.2709A>G:p.Thr903=	coding	Benign
9	32459452	T	G	T32459452G	RIGI	NM_014314.4(RIGI):c.2400A>C:p.Val800=	coding	Benign
9	32466279	C	T	C32466279T	RIGI	NM_014314.4(RIGI):c.2337+11G>A	noncoding	Benign
9	32480253	A	T	A32480253T	RIGI	NM_014314.4(RIGI):c.1740T>A:p.Asp580Glu	coding	Benign
9	32481329	G	A	G32481329A	RIGI	NM_014314.4(RIGI):c.1638+11C>T	noncoding	Benign
9	32481382	G	A	G32481382A	RIGI	NM_014314.4(RIGI):c.1596C>T:p.Ser532=	coding	Benign
9	32485215	C	T	C32485215T	RIGI	NM_014314.4(RIGI):c.1440G>A:p.Arg480=	coding	Benign
9	32485282	A	G	A32485282G	RIGI	NM_014314.4(RIGI):c.1376-3T>C	noncoding	Benign
9	32485287	C	T	C32485287T	RIGI	NM_014314.4(RIGI):c.1376-8G>A	noncoding	Benign
9	32487523	T	C	T32487523C	RIGI	NM_014314.4(RIGI):c.1323A>G:p.Thr441=	coding	Benign
9	32488902	G	C	G32488902C	RIGI	NM_014314.4(RIGI):c.800-15C>G	noncoding	Benign
9	32489362	T	C	T32489362C	RIGI	NM_014314.4(RIGI):c.781A>G:p.Ile261Val	coding	Benign
9	32492531	G	A	G32492531A	RIGI	NM_014314.4(RIGI):c.431C>T:p.Ser144Phe	coding	Benign
9	32493750	T	C	T32493750C	RIGI	NM_014314.4(RIGI):c.423+11A>G	noncoding	Benign
9	32526148	G	A	G32526148A	RIGI	NM_014314.4(RIGI):c.19C>T:p.Arg7Cys	coding	Benign
9	32541520	C	T	C32541520T	TOPORS	NM_005802.5(TOPORS):c.3005G>A:p.Ser1002Asn	coding	Benign
9	32541958	T	C	T32541958C	TOPORS	NM_005802.5(TOPORS):c.2567A>G:p.Lys856Arg	coding	Benign/Likely_benign
9	32542018	T	C	T32542018C	TOPORS	NM_005802.5(TOPORS):c.2507A>G:p.Tyr836Cys	coding	Benign
9	32542176	C	T	C32542176T	TOPORS	NM_005802.5(TOPORS):c.2349G>A:p.Gly783=	coding	Benign
9	32542643	G	A	G32542643A	TOPORS	NM_005802.5(TOPORS):c.1882C>T:p.Arg628Ter	coding	Pathogenic
9	32543136	G	A	G32543136A	TOPORS	NM_005802.5(TOPORS):c.1389C>T:p.Thr463=	coding	Benign/Likely_benign
9	32550903	G	C	G32550903C	TOPORS	NM_005802.5(TOPORS):c.69C>G:p.Pro23=	coding	Benign
9	32973779	C	T	C32973779T	APTX	NM_001195248.2(APTX):c.875-127G>A	noncoding	Benign
9	32974374	C	T	C32974374T	APTX	NM_001195248.2(APTX):c.874+84G>A	noncoding	Benign
9	32974497	A	G	A32974497G	APTX	NM_001195248.2(APTX):c.835T>C:p.Trp279Arg	coding	Pathogenic/Likely_pathogenic
9	32974887	C	T	C32974887T	APTX	NM_001195248.2(APTX):c.771-326G>A	noncoding	Benign
9	32984393	A	G	A32984393G	APTX	NM_001195248.2(APTX):c.770+238T>C	noncoding	Benign
9	32984707	C	A	C32984707A	APTX	NM_001195248.2(APTX):c.694G>T:p.Glu232Ter	coding	Pathogenic
9	32984858	C	G	C32984858G	APTX	NM_001195248.2(APTX):c.544-1G>C	coding	Pathogenic
9	32985941	T	G	T32985941G	APTX	NM_001195248.2(APTX):c.543+30A>C	noncoding	Benign
9	32987297	T	C	T32987297C	APTX	NM_001195248.2(APTX):c.483+247A>G	noncoding	Benign
9	32987453	G	A	G32987453A	APTX	NM_001195248.2(APTX):c.483+91C>T	noncoding	Benign
9	32987570	T	C	T32987570C	APTX	NM_001195248.2(APTX):c.457A>G:p.Lys153Glu	coding	Benign/Likely_benign
9	32987639	G	A	G32987639A	APTX	NM_001195248.2(APTX):c.388C>T:p.Gln130Ter	coding	Pathogenic/Likely_pathogenic
9	32988187	C	T	C32988187T	APTX	NM_001195248.2(APTX):c.134-58G>A	noncoding	Benign
9	32989768	G	A	G32989768A	APTX	NM_001195248.2(APTX):c.124C>T:p.Arg42Ter	coding	Pathogenic/Likely_pathogenic
9	32990134	T	C	T32990134C	APTX	NM_001195248.2(APTX):c.-4-239A>G	noncoding	Benign
9	32997152	T	A	T32997152A	APTX	NM_001195248.2(APTX):c.-5+4415A>T	noncoding	Benign
9	32997379	G	A	G32997379A	APTX	NM_001195248.2(APTX):c.-5+4188C>T	noncoding	Benign
9	33001443	G	A	G33001443A	APTX	NM_001195248.2(APTX):c.-5+124C>T	coding	Benign
9	33001450	G	C	G33001450C	APTX	NM_001195248.2(APTX):c.-5+117C>G	coding	Benign
9	33001451	C	A	C33001451A	APTX	NM_001195248.2(APTX):c.-5+116G>T	coding	Benign
9	33001667	G	A	G33001667A	APTX	NM_001368995.1(APTX):c.-4-11772C>T	noncoding	Benign
9	33001715	C	G	C33001715G	APTX	NM_001368995.1(APTX):c.-4-11820G>C	noncoding	Benign
9	33001741	C	T	C33001741T	APTX	NM_001368995.1(APTX):c.-4-11846G>A	noncoding	Benign
9	33113198	G	T	G33113198T	B4GALT1	NM_001497.4(B4GALT1):c.*256C>A	noncoding	Benign
9	33113324	C	T	C33113324T	B4GALT1	NM_001497.4(B4GALT1):c.*130G>A	noncoding	Benign
9	33113890	A	G	A33113890G	B4GALT1	NM_001497.4(B4GALT1):c.960-12T>C	noncoding	Benign/Likely_benign
9	33113972	C	T	C33113972T	B4GALT1	NM_001497.4(B4GALT1):c.960-94G>A	noncoding	Benign
9	33120263	T	C	T33120263C	B4GALT1	NM_001497.4(B4GALT1):c.836+156A>G	noncoding	Benign
9	33120708	A	G	A33120708G	B4GALT1	NM_001497.4(B4GALT1):c.649-102T>C	noncoding	Benign
9	33120767	T	C	T33120767C	B4GALT1	NM_001497.4(B4GALT1):c.649-161A>G	noncoding	Benign
9	33134864	A	T	A33134864T	B4GALT1	NM_001497.4(B4GALT1):c.648+325T>A	noncoding	Benign
9	33135258	G	C	G33135258C	B4GALT1	NM_001497.4(B4GALT1):c.579C>G:p.Tyr193Ter	coding	Pathogenic
9	33135636	T	C	T33135636C	B4GALT1	NM_001497.4(B4GALT1):c.413-212A>G	noncoding	Benign
9	33166617	T	C	T33166617C	B4GALT1	NM_001497.4(B4GALT1):c.412+141A>G	noncoding	Benign
9	33385810	G	T	G33385810T	AQP7	NM_001170.3(AQP7):c.582C>A:p.Asn194Lys	coding	Pathogenic
9	33798840	T	C	T33798840C	PRSS3	NM_002771.4(PRSS3):c.592-188T>C	noncoding	Benign
9	34178976	G	A	G34178976A	UBAP1	Single_allele	noncoding	Benign
9	34220857	G	A	G34220857A	UBAP1	NM_016525.5(UBAP1):c.-7-51G>A	noncoding	Benign
9	34242096	T	A	T34242096A	UBAP1	NM_016525.5(UBAP1):c.1071T>A:p.Asn357Lys	coding	Benign
9	34259656	T	C	T34259656C	KIF24	NM_194313.4(KIF24):c.1565A>G:p.Asn522Ser	coding	Pathogenic
9	34311022	T	C	T34311022C	KIF24	NM_194313.4(KIF24):c.325A>G:p.Arg109Gly	coding	Benign
9	34338895	C	G	C34338895G	NUDT2	NM_001161.5(NUDT2):c.-17+48C>G	noncoding	Benign
9	34339073	C	T	C34339073T	NUDT2	NM_001161.5(NUDT2):c.34C>T:p.Arg12Ter	coding	Pathogenic
9	34371276	G	C	G34371276C	MYORG	NM_020702.5(MYORG):c.1668C>G:p.Gly556=	coding	Benign
9	34371456	G	C	G34371456C	MYORG	NM_020702.5(MYORG):c.1488C>G:p.Pro496=	coding	Benign
9	34371790	A	T	A34371790T	MYORG	NM_020702.5(MYORG):c.1154T>A:p.Phe385Tyr	coding	Benign
9	34371880	A	C	A34371880C	MYORG	NM_020702.5(MYORG):c.1064T>G:p.Met355Arg	coding	Benign
9	34372254	T	C	T34372254C	MYORG	NM_020702.5(MYORG):c.690A>G:p.Leu230=	coding	Benign
9	34372349	G	T	G34372349T	MYORG	NM_020702.5(MYORG):c.595C>A:p.Arg199Ser	coding	Benign
9	34372581	G	A	G34372581A	MYORG	NM_020702.5(MYORG):c.363C>T:p.Asp121=	coding	Benign
9	34372785	G	C	G34372785C	MYORG	NM_020702.5(MYORG):c.159C>G:p.Asp53Glu	coding	Benign
9	34372933	T	A	T34372933A	MYORG	NM_020702.5(MYORG):c.11A>T:p.Asn4Ile	coding	Benign
9	34373043	C	T	C34373043T	MYORG	NM_020702.5(MYORG):c.-63-37G>A	noncoding	Benign
9	34459268	G	A	G34459268A	DNAI1	NM_012144.4(DNAI1):c.48+215G>A	noncoding	Benign
9	34483500	T	C	T34483500C	DNAI1	NM_012144.4(DNAI1):c.81+20T>C	noncoding	Benign
9	34485648	C	T	C34485648T	DNAI1	NM_012144.4(DNAI1):c.261+131C>T	noncoding	Benign
9	34490081	T	A	T34490081A	DNAI1	NM_012144.4(DNAI1):c.458T>A:p.Leu153Ter	coding	Pathogenic
9	34490397	T	A	T34490397A	DNAI1	NM_012144.4(DNAI1):c.530T>A:p.Leu177Ter	coding	Pathogenic
9	34490465	C	T	C34490465T	DNAI1	NM_012144.4(DNAI1):c.598C>T:p.Gln200Ter	coding	Pathogenic
9	34497157	G	T	G34497157T	DNAI1	NM_012144.4(DNAI1):c.859G>T:p.Glu287Ter	coding	Pathogenic
9	34500430	T	G	T34500430G	DNAI1	NM_012144.4(DNAI1):c.902-292T>G	noncoding	Benign
9	34500597	G	T	G34500597T	DNAI1	NM_012144.4(DNAI1):c.902-125G>T	noncoding	Benign
9	34500844	G	C	G34500844C	DNAI1	NM_012144.4(DNAI1):c.1019+5G>C	noncoding	Pathogenic
9	34500957	T	C	T34500957C	DNAI1	NM_012144.4(DNAI1):c.1019+118T>C	noncoding	Benign
9	34501182	G	A	G34501182A	DNAI1	NM_012144.4(DNAI1):c.1063+1G>A	coding	Pathogenic
9	34506305	C	T	C34506305T	DNAI1	NM_012144.4(DNAI1):c.1064-322C>T	noncoding	Benign
9	34507020	A	G	A34507020G	DNAI1	NM_012144.4(DNAI1):c.1311+146A>G	noncoding	Benign
9	34507083	T	C	T34507083C	DNAI1	NM_012144.4(DNAI1):c.1311+209T>C	noncoding	Benign
9	34507175	C	T	C34507175T	DNAI1	NM_012144.4(DNAI1):c.1311+301C>T	noncoding	Benign
9	34512149	T	A	T34512149A	DNAI1	NM_012144.4(DNAI1):c.1352T>A:p.Phe451Tyr	coding	Pathogenic
9	34512205	A	G	A34512205G	DNAI1	NM_012144.4(DNAI1):c.1401+7A>G	noncoding	Benign
9	34512554	G	A	G34512554A	DNAI1	NM_012144.4(DNAI1):c.1489+130G>A	noncoding	Benign
9	34512587	G	C	G34512587C	DNAI1	NM_012144.4(DNAI1):c.1489+163G>C	noncoding	Benign
9	34512895	G	A	G34512895A	DNAI1	NM_012144.4(DNAI1):c.1490-217G>A	noncoding	Benign
9	34514103	A	G	A34514103G	DNAI1	NM_012144.4(DNAI1):c.1570-291A>G	noncoding	Benign
9	34517034	C	T	C34517034T	DNAI1	NM_012144.4(DNAI1):c.1819-251C>T	noncoding	Benign
9	34635601	T	C	T34635601C	SIGMAR1	NM_005866.4(SIGMAR1):c.*31A>G	noncoding	Benign
9	34635902	G	C	G34635902C	SIGMAR1	NM_005866.4(SIGMAR1):c.446-44C>G	noncoding	Benign
9	34636115	C	T	C34636115T	SIGMAR1	NM_005866.4(SIGMAR1):c.446-257G>A	noncoding	Benign
9	34636826	G	C	G34636826C	SIGMAR1	NM_005866.4(SIGMAR1):c.445+171C>G	noncoding	Benign
9	34637378	A	T	A34637378T	SIGMAR1	NM_005866.4(SIGMAR1):c.194T>A:p.Leu65Gln	coding	Pathogenic/Likely_pathogenic
9	34637532	C	T	C34637532T	SIGMAR1	NM_005866.4(SIGMAR1):c.151+15G>A	noncoding	Benign
9	34637612	C	T	C34637612T	SIGMAR1	NM_005866.4(SIGMAR1):c.86G>A:p.Trp29Ter	coding	Pathogenic
9	34637993	G	A	G34637993A	SIGMAR1	Single_allele	noncoding	Benign
9	34637994	C	A	C34637994A	SIGMAR1	Single_allele	noncoding	Benign
9	34638237	A	T	A34638237T	SIGMAR1	NC_000009.11:g.34638234A>T	noncoding	Benign
9	34647148	C	A	C34647148A	GALT	NM_000155.4(GALT):c.142C>A:p.Arg48Ser	coding	Pathogenic
9	34647247	G	C	G34647247C	GALT	NM_000155.4(GALT):c.241G>C:p.Ala81Pro	coding	Pathogenic/Likely_pathogenic
9	34647882	C	T	C34647882T	GALT	NM_000155.4(GALT):c.428C>T:p.Ser143Leu	coding	Pathogenic/Likely_pathogenic
9	34647921	C	A	C34647921A	GALT	NM_000155.4(GALT):c.467C>A:p.Ser156Ter	coding	Pathogenic
9	34647956	G	T	G34647956T	GALT	NM_000155.4(GALT):c.502G>T:p.Val168Leu	coding	Pathogenic/Likely_pathogenic
9	34648163	C	T	C34648163T	GALT	NM_000155.4(GALT):c.556C>T:p.His186Tyr	coding	Pathogenic/Likely_pathogenic
9	34648165	C	G	C34648165G	GALT	NM_000155.4(GALT):c.558C>G:p.His186Gln	coding	Pathogenic
9	34648186	G	A	G34648186A	GALT	NM_000155.4(GALT):c.564+15G>A	noncoding	Benign/Likely_benign
9	34648811	G	A	G34648811A	GALT	NM_000155.4(GALT):c.737G>A:p.Trp246Ter	coding	Pathogenic/Likely_pathogenic
9	34648850	G	A	G34648850A	GALT	NM_000155.4(GALT):c.776G>A:p.Arg259Gln	coding	Pathogenic/Likely_pathogenic
9	34648870	G	T	G34648870T	GALT	NM_000155.4(GALT):c.796G>T:p.Glu266Ter	coding	Pathogenic/Likely_pathogenic
9	34649071	G	A	G34649071A	GALT	NM_000155.4(GALT):c.894G>A:p.Met298Ile	coding	Pathogenic
9	34649487	C	T	C34649487T	GALT	NM_000155.4(GALT):c.982C>T:p.Arg328Cys	coding	Pathogenic/Likely_pathogenic
9	34649519	C	G	C34649519G	GALT	NM_000155.4(GALT):c.1014C>G:p.Gly338=	coding	Pathogenic/Likely_pathogenic
9	34655439	T	C	T34655439C	IL11RA	NM_001142784.3(IL11RA):c.100+122T>C	noncoding	Benign
9	34655737	G	T	G34655737T	IL11RA	NM_001142784.3(IL11RA):c.161+72G>T	noncoding	Benign
9	34656482	G	A	G34656482A	IL11RA	NM_001142784.3(IL11RA):c.162-257G>A	noncoding	Benign
9	34657393	A	G	A34657393G	IL11RA	NM_001142784.3(IL11RA):c.480-28A>G	noncoding	Benign
9	34657398	A	G	A34657398G	IL11RA	NM_001142784.3(IL11RA):c.480-23A>G	noncoding	Benign
9	34657666	T	C	T34657666C	IL11RA	NM_001142784.3(IL11RA):c.646+79T>C	noncoding	Benign
9	34657729	G	C	G34657729C	IL11RA	NM_001142784.3(IL11RA):c.646+142G>C	noncoding	Benign
9	34658424	T	A	T34658424A	IL11RA	NM_001142784.3(IL11RA):c.647-96T>A	noncoding	Benign
9	34658582	C	T	C34658582T	IL11RA	NM_001142784.3(IL11RA):c.709C>T:p.Arg237Ter	coding	Pathogenic
9	34658655	G	A	G34658655A	IL11RA	NM_001142784.3(IL11RA):c.782G>A:p.Arg261His	coding	Benign
9	34659455	G	T	G34659455T	IL11RA	NM_001142784.3(IL11RA):c.811-304G>T	noncoding	Benign
9	34660867	C	T	C34660867T	IL11RA	NM_001142784.3(IL11RA):c.1183C>T:p.Arg395Trp	coding	Benign
9	34661681	C	T	C34661681T	IL11RA	NM_001142784.3(IL11RA):c.*183C>T	noncoding	Benign
9	35057462	C	T	C35057462T	VCP	NM_007126.5(VCP):c.2229G>A:p.Ala743=	coding	Benign
9	35057498	G	A	G35057498A	VCP	NM_007126.5(VCP):c.2193C>T:p.Ile731=	coding	Benign
9	35057771	G	A	G35057771A	VCP	NM_007126.5(VCP):c.2161-241C>T	noncoding	Benign
9	35058842	T	C	T35058842C	VCP	NM_007126.5(VCP):c.2160+222A>G	noncoding	Benign
9	35060024	C	A	C35060024A	VCP	NM_007126.5(VCP):c.1696-223G>T	noncoding	Benign
9	35060103	C	T	C35060103T	VCP	NM_007126.5(VCP):c.1695+210G>A	noncoding	Benign
9	35060749	A	G	A35060749G	VCP	NM_007126.5(VCP):c.1482+52T>C	noncoding	Benign
9	35060783	T	C	T35060783C	VCP	NM_007126.5(VCP):c.1482+18A>G	noncoding	Benign
9	35060876	T	C	T35060876C	VCP	NM_007126.5(VCP):c.1407A>G:p.Val469=	coding	Benign
9	35061172	T	C	T35061172C	VCP	NM_007126.5(VCP):c.1202A>G:p.Asn401Ser	coding	Benign/Likely_benign
9	35061493	C	A	C35061493A	VCP	NM_007126.5(VCP):c.1194+84G>T	noncoding	Benign
9	35061506	T	C	T35061506C	VCP	NM_007126.5(VCP):c.1194+71A>G	noncoding	Benign
9	35061587	T	C	T35061587C	VCP	NM_007126.5(VCP):c.1184A>G:p.Asp395Gly	coding	Pathogenic
9	35061986	G	A	G35061986A	VCP	NM_007126.5(VCP):c.1081+17C>T	noncoding	Benign/Likely_benign
9	35062616	A	G	A35062616G	VCP	NM_007126.5(VCP):c.812-266T>C	noncoding	Benign
9	35065355	T	C	T35065355C	VCP	NM_007126.5(VCP):c.472A>G:p.Met158Val	coding	Pathogenic
9	35065362	A	C	A35065362C	VCP	NM_007126.5(VCP):c.465T>G:p.Arg155=	coding	Benign
9	35067604	T	C	T35067604C	VCP	NM_007126.5(VCP):c.302+287A>G	noncoding	Benign
9	35067922	T	A	T35067922A	VCP	NM_007126.5(VCP):c.271A>T:p.Asn91Tyr	coding	Pathogenic/Likely_pathogenic
9	35068216	C	T	C35068216T	VCP	NM_007126.5(VCP):c.129+35G>A	noncoding	Benign
9	35068326	T	C	T35068326C	VCP	NM_007126.5(VCP):c.54A>G:p.Lys18=	coding	Benign
9	35068643	A	T	A35068643T	VCP	NM_007126.5(VCP):c.18-281T>A	noncoding	Benign
9	35074683	C	G	C35074683G	FANCG	NM_004629.2(FANCG):c.1637-189G>C	noncoding	Benign
9	35074978	G	A	G35074978A	FANCG	NM_004629.2(FANCG):c.1585C>T:p.Gln529Ter	coding	Pathogenic
9	35074991	C	T	C35074991T	FANCG	NM_004629.2(FANCG):c.1572G>A:p.Trp524Ter	coding	Pathogenic
9	35075062	G	A	G35075062A	FANCG	NM_004629.2(FANCG):c.1501C>T:p.Gln501Ter	coding	Pathogenic
9	35075291	C	A	C35075291A	FANCG	NM_004629.2(FANCG):c.1468G>T:p.Glu490Ter	coding	Pathogenic
9	35075682	G	A	G35075682A	FANCG	NM_004629.2(FANCG):c.1216C>T:p.Gln406Ter	coding	Pathogenic
9	35076446	G	T	G35076446T	FANCG	NM_004629.2(FANCG):c.1062C>A:p.Cys354Ter	coding	Pathogenic
9	35076475	G	A	G35076475A	FANCG	NM_004629.2(FANCG):c.1033C>T:p.Gln345Ter	coding	Pathogenic
9	35076501	G	T	G35076501T	FANCG	NM_004629.2(FANCG):c.1007C>A:p.Ser336Ter	coding	Pathogenic
9	35076738	C	A	C35076738A	FANCG	NM_004629.2(FANCG):c.910G>T:p.Glu304Ter	coding	Pathogenic
9	35076861	G	A	G35076861A	FANCG	NM_004629.2(FANCG):c.787C>T:p.Gln263Ter	coding	Pathogenic
9	35076909	C	G	C35076909G	FANCG	NM_004629.2(FANCG):c.778-39G>C	noncoding	Benign
9	35076926	C	T	C35076926T	FANCG	NM_004629.2(FANCG):c.777+45G>A	noncoding	Benign
9	35077117	G	T	G35077117T	FANCG	NM_004629.2(FANCG):c.647-16C>A	noncoding	Benign
9	35077206	G	A	G35077206A	FANCG	NM_004629.2(FANCG):c.646+58C>T	noncoding	Benign
9	35077249	A	G	A35077249G	FANCG	NM_004629.2(FANCG):c.646+15T>C	noncoding	Benign
9	35077252	T	C	T35077252C	FANCG	NM_004629.2(FANCG):c.646+12A>G	noncoding	Benign/Likely_benign
9	35077306	C	A	C35077306A	FANCG	NM_004629.2(FANCG):c.604G>T:p.Gly202Ter	coding	Pathogenic
9	35077480	T	G	T35077480G	FANCG	NM_004629.2(FANCG):c.511-81A>C	noncoding	Benign
9	35077700	G	A	G35077700A	FANCG	NM_004629.2(FANCG):c.511-301C>T	noncoding	Benign
9	35078286	C	T	C35078286T	FANCG	NM_004629.2(FANCG):c.365G>A:p.Trp122Ter	coding	Pathogenic
9	35078305	G	A	G35078305A	FANCG	NM_004629.2(FANCG):c.346C>T:p.Gln116Ter	coding	Pathogenic
9	35079211	G	A	G35079211A	FANCG	NM_004629.2(FANCG):c.115C>T:p.Arg39Ter	coding	Pathogenic
9	35079364	G	T	G35079364T	FANCG	NM_004629.2(FANCG):c.84+77C>A	noncoding	Benign
9	35079449	G	A	G35079449A	FANCG	NM_004629.2(FANCG):c.76C>T:p.Gln26Ter	coding	Pathogenic
9	35079515	G	A	G35079515A	FANCG	NM_004629.2(FANCG):c.10C>T:p.Gln4Ter	coding	Pathogenic
9	35080028	T	A	T35080028A	FANCG	NM_004629.1(FANCG):c.-504A>T	noncoding	Benign/Likely_benign
9	35080213	C	T	C35080213T	FANCG	Single_allele	noncoding	Benign
9	35088825	G	C	G35088825C	PIGO	NM_032634.4(PIGO):c.*267C>G	noncoding	Benign/Likely_benign
9	35090785	A	C	A35090785C	PIGO	NM_032634.4(PIGO):c.2648-113T>G	noncoding	Benign
9	35091400	C	A	C35091400A	PIGO	NM_032634.4(PIGO):c.2487G>T:p.Gly829=	coding	Benign
9	35091763	C	T	C35091763T	PIGO	NM_032634.4(PIGO):c.2124G>A:p.Leu708=	coding	Benign/Likely_benign
9	35092558	C	T	C35092558T	PIGO	NM_032634.4(PIGO):c.1329G>A:p.Trp443Ter	coding	Pathogenic
9	35092665	G	A	G35092665A	PIGO	NM_032634.4(PIGO):c.1222C>T:p.Gln408Ter	coding	Pathogenic
9	35093062	G	A	G35093062A	PIGO	NM_032634.4(PIGO):c.1087C>T:p.Gln363Ter	coding	Pathogenic
9	35096109	C	G	C35096109G	PIGO	NM_032634.4(PIGO):c.-2+46G>C	noncoding	Benign
9	35096637	T	A	T35096637A	PIGO	Single_allele	noncoding	Benign
9	35546738	A	G	A35546738G	RUSC2	NM_014806.5(RUSC2):c.217A>G:p.Thr73Ala	coding	Benign
9	35546926	C	T	C35546926T	RUSC2	NM_014806.5(RUSC2):c.405C>T:p.Gly135=	coding	Benign
9	35547009	G	A	G35547009A	RUSC2	NM_014806.5(RUSC2):c.488G>A:p.Arg163His	coding	Benign
9	35547068	C	T	C35547068T	RUSC2	NM_014806.5(RUSC2):c.547C>T:p.Gln183Ter	coding	Pathogenic
9	35547144	C	A	C35547144A	RUSC2	NM_014806.5(RUSC2):c.623C>A:p.Pro208His	coding	Benign
9	35547592	T	G	T35547592G	RUSC2	NM_014806.5(RUSC2):c.1071T>G:p.Pro357=	coding	Benign/Likely_benign
9	35547619	C	G	C35547619G	RUSC2	NM_014806.5(RUSC2):c.1098C>G:p.Tyr366Ter	coding	Pathogenic
9	35548288	G	A	G35548288A	RUSC2	NM_014806.5(RUSC2):c.1767G>A:p.Glu589=	coding	Benign
9	35548397	C	T	C35548397T	RUSC2	NM_014806.5(RUSC2):c.1876C>T:p.His626Tyr	coding	Benign
9	35548482	C	T	C35548482T	RUSC2	NM_014806.5(RUSC2):c.1961C>T:p.Pro654Leu	coding	Benign
9	35555161	C	T	C35555161T	RUSC2	NM_014806.5(RUSC2):c.2116C>T:p.Gln706Ter	coding	Pathogenic
9	35555396	G	A	G35555396A	RUSC2	NM_014806.5(RUSC2):c.2351G>A:p.Arg784Gln	coding	Benign
9	35555502	C	T	C35555502T	RUSC2	NM_014806.5(RUSC2):c.2457C>T:p.His819=	coding	Benign
9	35555586	G	T	G35555586T	RUSC2	NM_014806.5(RUSC2):c.2541G>T:p.Arg847=	coding	Benign
9	35556041	C	T	C35556041T	RUSC2	NM_014806.5(RUSC2):c.2746C>T:p.Arg916Ter	coding	Pathogenic
9	35556324	G	A	G35556324A	RUSC2	NM_014806.5(RUSC2):c.2859G>A:p.Pro953=	coding	Benign
9	35556368	C	T	C35556368T	RUSC2	NM_014806.5(RUSC2):c.2903C>T:p.Thr968Met	coding	Benign
9	35558556	C	T	C35558556T	RUSC2	NM_014806.5(RUSC2):c.3330C>T:p.Leu1110=	coding	Benign
9	35559216	C	T	C35559216T	RUSC2	NM_014806.5(RUSC2):c.3342-10C>T	noncoding	Benign
9	35560078	T	C	T35560078C	RUSC2	NM_014806.5(RUSC2):c.3438T>C:p.His1146=	coding	Benign
9	35560430	C	T	C35560430T	RUSC2	NM_014806.5(RUSC2):c.3790C>T:p.Arg1264Ter	coding	Pathogenic
9	35560672	G	A	G35560672A	RUSC2	NM_014806.5(RUSC2):c.4032G>A:p.Trp1344Ter	coding	Pathogenic
9	35560954	C	A	C35560954A	RUSC2	NM_014806.5(RUSC2):c.4212-6C>A	noncoding	Benign
9	35561074	A	T	A35561074T	RUSC2	NM_014806.5(RUSC2):c.4326A>T:p.Pro1442=	coding	Benign
9	35561095	G	A	G35561095A	RUSC2	NM_014806.5(RUSC2):c.4347G>A:p.Pro1449=	coding	Benign
9	35561166	G	A	G35561166A	RUSC2	NM_014806.5(RUSC2):c.4350-15G>A	noncoding	Benign
9	35657744	A	G	A35657744G	RMRP	NC_000009.11:g.35657741A>G	noncoding	Benign
9	35657780	G	A	G35657780A	RMRP	NR_003051.3(RMRP):n.239C>T	noncoding	Pathogenic/Likely_pathogenic
9	35657798	A	G	A35657798G	RMRP	NR_003051.3(RMRP):n.221T>C	noncoding	Pathogenic
9	35657807	G	C	G35657807C	RMRP	NR_003051.3(RMRP):n.212C>G	noncoding	Pathogenic/Likely_pathogenic
9	35657825	C	T	C35657825T	RMRP	NR_003051.3(RMRP):n.194G>A	noncoding	Pathogenic
9	35657838	C	T	C35657838T	RMRP	NR_003051.3(RMRP):n.181G>A	noncoding	Pathogenic
9	35657843	C	T	C35657843T	RMRP	NR_003051.3(RMRP):n.176G>A	noncoding	Benign/Likely_benign
9	35657891	C	T	C35657891T	RMRP	NR_003051.3(RMRP):n.128G>A	noncoding	Pathogenic
9	35657921	C	T	C35657921T	RMRP	NR_003051.3(RMRP):n.98G>A	noncoding	Pathogenic/Likely_pathogenic
9	35657983	G	A	G35657983A	RMRP	NR_003051.3(RMRP):n.36C>T	noncoding	Pathogenic
9	35658004	C	T	C35658004T	RMRP	NR_003051.3(RMRP):n.15G>A	noncoding	Pathogenic
9	35658023	C	T	C35658023T	RMRP	NR_003051.3(RMRP):n.-5G>A	noncoding	Benign
9	35658166	A	T	A35658166T	RMRP	Single_allele	noncoding	Benign
9	35658334	A	G	A35658334G	RMRP	NM_174923.3(CCDC107):c.-46A>G	noncoding	Benign
9	35661946	A	C	A35661946C	CCDC107	NM_032818.3(ARHGEF39):c.*41T>G	noncoding	Benign
9	35682258	G	C	G35682258C	TPM2	NM_213674.1(TPM2):c.773-95C>G	noncoding	Benign
9	35682299	T	A	T35682299A	TPM2	NM_213674.1(TPM2):c.773-136A>T	noncoding	Benign
9	35685251	A	T	A35685251T	TPM2	NM_003289.4(TPM2):c.563+18T>A	noncoding	Benign
9	35685252	C	T	C35685252T	TPM2	NM_003289.4(TPM2):c.563+17G>A	noncoding	Benign/Likely_benign
9	35705762	G	A	G35705762A	TLN1	NM_006289.4(TLN1):c.5601C>T:p.Thr1867=	coding	Benign
9	35737840	G	A	G35737840A	GBA2	NM_020944.3(GBA2):c.2413C>T:p.Gln805Ter	coding	Pathogenic
9	35737886	G	A	G35737886A	GBA2	NM_020944.3(GBA2):c.2367C>T:p.Asn789=	coding	Benign
9	35738544	C	T	C35738544T	GBA2	NM_020944.3(GBA2):c.2036G>A:p.Trp679Ter	coding	Pathogenic
9	35739146	C	T	C35739146T	GBA2	NM_020944.3(GBA2):c.1688-37G>A	noncoding	Benign
9	35739614	C	T	C35739614T	GBA2	NM_020944.3(GBA2):c.1582+14G>A	noncoding	Benign
9	35739879	G	A	G35739879A	GBA2	NM_020944.3(GBA2):c.1410-79C>T	noncoding	Benign
9	35741807	C	T	C35741807T	GBA2	NM_020944.3(GBA2):c.651G>A:p.Trp217Ter	coding	Pathogenic
9	35744592	A	G	A35744592G	GBA2	NM_020944.3(GBA2):c.451+23T>C	noncoding	Benign
9	35748122	C	T	C35748122T	GBA2	NM_020944.3(GBA2):c.359+224G>A	noncoding	Benign
9	35748809	G	T	G35748809T	GBA2	NM_020944.3(GBA2):c.-105C>A	noncoding	Benign
9	35749406	G	C	G35749406C	GBA2	NM_001080496.3(RGP1):c.-22G>C	noncoding	Benign
9	35749547	T	C	T35749547C	GBA2	NM_001080496.3(RGP1):c.-20+139T>C	noncoding	Benign
9	35792191	C	T	C35792191T	NPR2	NM_003995.4(NPR2):c.-218C>T	noncoding	Benign
9	35792856	G	A	G35792856A	NPR2	NM_003995.4(NPR2):c.448G>A:p.Gly150Ser	coding	Pathogenic
9	35793021	C	T	C35793021T	NPR2	NM_003995.4(NPR2):c.613C>T:p.Arg205Ter	coding	Pathogenic
9	35793710	C	T	C35793710T	NPR2	NM_003995.4(NPR2):c.668-188C>T	noncoding	Benign
9	35794116	C	A	C35794116A	NPR2	NM_003995.4(NPR2):c.873+13C>A	noncoding	Benign/Likely_benign
9	35800121	C	T	C35800121T	NPR2	NM_003995.4(NPR2):c.1087C>T:p.Arg363Ter	coding	Pathogenic
9	35800145	C	T	C35800145T	NPR2	NM_003995.4(NPR2):c.1111C>T:p.Arg371Ter	coding	Pathogenic
9	35801236	T	C	T35801236C	NPR2	NM_003995.4(NPR2):c.1436+82T>C	noncoding	Benign
9	35801439	C	T	C35801439T	NPR2	NM_003995.4(NPR2):c.1437-204C>T	noncoding	Benign
9	35801859	C	A	C35801859A	NPR2	NM_003995.4(NPR2):c.1558-67C>A	noncoding	Benign
9	35801947	C	T	C35801947T	NPR2	NM_003995.4(NPR2):c.1579C>T:p.Leu527Phe	coding	Pathogenic
9	35802095	G	C	G35802095C	NPR2	NM_003995.4(NPR2):c.1632+95G>C	noncoding	Benign
9	35802272	G	T	G35802272T	NPR2	NM_003995.4(NPR2):c.1699G>T:p.Glu567Ter	coding	Pathogenic
9	35805681	C	T	C35805681T	NPR2	NM_003995.4(NPR2):c.2047+11C>T	noncoding	Benign/Likely_benign
9	35806082	C	T	C35806082T	NPR2	NM_003995.4(NPR2):c.2221C>T:p.Arg741Ter	coding	Pathogenic
9	35806106	C	T	C35806106T	NPR2	NM_003995.4(NPR2):c.2245C>T:p.Arg749Trp	coding	Pathogenic/Likely_pathogenic
9	35806160	C	T	C35806160T	NPR2	NM_003995.4(NPR2):c.2299C>T:p.Arg767Ter	coding	Pathogenic
9	35806202	C	T	C35806202T	NPR2	NM_003995.4(NPR2):c.2341C>T:p.Gln781Ter	coding	Pathogenic
9	35806547	T	C	T35806547C	NPR2	NM_003995.4(NPR2):c.2519+9T>C	noncoding	Benign
9	35806834	C	A	C35806834A	NPR2	NM_003995.4(NPR2):c.2520-189C>A	noncoding	Benign
9	35807545	C	T	C35807545T	NPR2	NM_003995.4(NPR2):c.2712+147C>T	noncoding	Benign
9	35807647	A	G	A35807647G	NPR2	NM_003995.4(NPR2):c.2712+249A>G	noncoding	Benign
9	35808337	C	G	C35808337G	NPR2	NM_003995.4(NPR2):c.2713-172C>G	noncoding	Benign
9	35808516	C	T	C35808516T	NPR2	NM_003995.4(NPR2):c.2720C>T:p.Thr907Met	coding	Pathogenic/Likely_pathogenic
9	35808641	C	T	C35808641T	NPR2	NM_003995.4(NPR2):c.2845C>T:p.Arg949Ter	coding	Pathogenic
9	35808833	G	A	G35808833A	NPR2	NM_003995.4(NPR2):c.2966G>A:p.Arg989Gln	coding	Pathogenic
9	35809331	A	G	A35809331G	NPR2	NM_003995.4(NPR2):c.3079-49A>G	noncoding	Benign
9	36219833	C	T	C36219833T	GNE	NM_005476.7(GNE):c.1816+5G>A	noncoding	Pathogenic
9	36219865	G	A	G36219865A	GNE	NM_005476.7(GNE):c.1789C>T:p.Gln597Ter	coding	Pathogenic
9	36222659	A	G	A36222659G	GNE	NM_005476.7(GNE):c.1633+118T>C	noncoding	Benign
9	36229043	G	A	G36229043A	GNE	NM_005476.7(GNE):c.1048C>T:p.Gln350Ter	coding	Pathogenic
9	36229073	G	A	G36229073A	GNE	NM_005476.7(GNE):c.1018C>T:p.Gln340Ter	coding	Pathogenic
9	36233673	A	C	A36233673C	GNE	NM_005476.7(GNE):c.982+247T>G	noncoding	Benign
9	36233986	G	A	G36233986A	GNE	NM_005476.7(GNE):c.916C>T:p.Arg306Ter	coding	Pathogenic/Likely_pathogenic
9	36234046	G	A	G36234046A	GNE	NM_005476.7(GNE):c.856C>T:p.Gln286Ter	coding	Pathogenic/Likely_pathogenic
9	36246262	G	A	G36246262A	GNE	NM_005476.7(GNE):c.385C>T:p.Arg129Ter	coding	Pathogenic/Likely_pathogenic
9	36249276	G	A	G36249276A	GNE	NM_005476.7(GNE):c.80C>T:p.Pro27Leu	coding	Pathogenic/Likely_pathogenic
9	36249361	G	A	G36249361A	GNE	NM_001128227.3(GNE):c.88C>T:p.Gln30Ter	coding	Pathogenic/Likely_pathogenic
9	36249645	G	A	G36249645A	GNE	NM_005476.7(GNE):c.-42-248C>T	noncoding	Benign
9	36258550	C	T	C36258550T	GNE	NM_001128227.3(GNE):c.52-9153G>A	noncoding	Benign
9	36276831	T	C	T36276831C	GNE	NM_001128227.3(GNE):c.51+63A>G	noncoding	Benign/Likely_benign
9	36276877	A	C	A36276877C	GNE	NM_001128227.3(GNE):c.51+17T>G	noncoding	Benign/Likely_benign
9	36840330	C	T	C36840330T	PAX5	NM_016734.3(PAX5):c.*230G>A	noncoding	Benign
9	36840607	G	A	G36840607A	PAX5	NM_016734.3(PAX5):c.1129C>T:p.Arg377Ter	coding	Pathogenic
9	36840626	G	A	G36840626A	PAX5	NM_016734.3(PAX5):c.1110C>T:p.Tyr370=	coding	Benign
9	36840647	C	T	C36840647T	PAX5	NM_016734.3(PAX5):c.1100-11G>A	noncoding	Benign
9	36840688	C	T	C36840688T	PAX5	NM_016734.3(PAX5):c.1100-52G>A	noncoding	Benign
9	36840730	C	G	C36840730G	PAX5	NM_016734.3(PAX5):c.1100-94G>C	noncoding	Benign
9	36846596	C	T	C36846596T	PAX5	NM_016734.3(PAX5):c.1099+247G>A	noncoding	Benign
9	36847142	G	A	G36847142A	PAX5	NM_016734.3(PAX5):c.1013-213C>T	noncoding	Benign
9	36881869	T	C	T36881869C	PAX5	NM_016734.3(PAX5):c.1012+135A>G	noncoding	Benign
9	36882052	C	T	C36882052T	PAX5	NM_016734.3(PAX5):c.964G>A:p.Ala322Thr	coding	Benign
9	36882054	G	T	G36882054T	PAX5	NM_016734.3(PAX5):c.962C>A:p.Pro321His	coding	Pathogenic
9	36882144	T	C	T36882144C	PAX5	NM_016734.3(PAX5):c.911-39A>G	noncoding	Benign
9	36923611	G	A	G36923611A	PAX5	NM_016734.3(PAX5):c.781-127C>T	noncoding	Benign
9	36923769	C	G	C36923769G	PAX5	NM_016734.3(PAX5):c.781-285G>C	noncoding	Benign
9	36928104	C	G	C36928104G	PAX5	NM_016734.3(PAX5):c.781-4620G>C	noncoding	Benign
9	36928291	T	C	T36928291C	PAX5	NM_016734.3(PAX5):c.781-4807A>G	noncoding	Benign
9	36928299	C	A	C36928299A	PAX5	NM_016734.3(PAX5):c.781-4815G>T	noncoding	Benign
9	36928392	C	A	C36928392A	PAX5	NM_016734.3(PAX5):c.781-4908G>T	noncoding	Benign
9	36928507	C	T	C36928507T	PAX5	NM_016734.3(PAX5):c.781-5023G>A	noncoding	Benign
9	36928579	T	C	T36928579C	PAX5	NM_016734.3(PAX5):c.781-5095A>G	noncoding	Benign
9	36966382	A	G	A36966382G	PAX5	NM_016734.3(PAX5):c.780+167T>C	noncoding	Benign
9	36966668	G	A	G36966668A	PAX5	NM_016734.3(PAX5):c.661C>T:p.Arg221Trp	coding	Pathogenic
9	37002442	C	T	C37002442T	PAX5	NM_016734.3(PAX5):c.604+206G>A	noncoding	Benign
9	37002550	G	T	G37002550T	PAX5	NM_016734.3(PAX5):c.604+98C>A	noncoding	Benign
9	37002809	A	G	A37002809G	PAX5	NM_016734.3(PAX5):c.476-33T>C	noncoding	Benign
9	37003078	A	G	A37003078G	PAX5	NM_016734.3(PAX5):c.476-302T>C	noncoding	Benign
9	37014714	G	A	G37014714A	PAX5	NM_016734.3(PAX5):c.410+283C>T	noncoding	Benign
9	37015163	C	T	C37015163T	PAX5	NM_016734.3(PAX5):c.244G>A:p.Val82Ile	coding	Benign
9	37015168	G	C	G37015168C	PAX5	NM_016734.3(PAX5):c.239C>G:p.Pro80Arg	coding	Pathogenic
9	37015237	A	G	A37015237G	PAX5	NM_016734.3(PAX5):c.213-43T>C	noncoding	Benign
9	37015453	G	A	G37015453A	PAX5	NM_016734.3(PAX5):c.213-259C>T	noncoding	Benign
9	37020364	G	A	G37020364A	PAX5	NM_016734.3(PAX5):c.212+272C>T	noncoding	Benign
9	37020519	G	A	G37020519A	PAX5	NM_016734.3(PAX5):c.212+117C>T	noncoding	Benign
9	37020625	A	C	A37020625C	PAX5	NM_016734.3(PAX5):c.212+11T>G	noncoding	Benign
9	37020691	C	G	C37020691G	PAX5	NM_016734.3(PAX5):c.157G>C:p.Asp53His	coding	Pathogenic
9	37020953	C	T	C37020953T	PAX5	NM_016734.3(PAX5):c.47-152G>A	noncoding	Benign
9	37033696	A	G	A37033696G	PAX5	NM_016734.3(PAX5):c.46+290T>C	noncoding	Benign
9	37034620	T	C	T37034620C	PAX5	Single_allele	noncoding	Benign
9	37034672	C	T	C37034672T	PAX5	Single_allele	noncoding	Benign
9	37422523	C	T	C37422523T	GRHPR	Single_allele	noncoding	Benign
9	37422525	A	C	A37422525C	GRHPR	Single_allele	noncoding	Benign
9	37422527	A	C	A37422527C	GRHPR	Single_allele	noncoding	Benign
9	37422659	C	T	C37422659T	GRHPR	NM_012203.2(GRHPR):c.-92C>T	noncoding	Benign
9	37422678	C	A	C37422678A	GRHPR	Single_allele	noncoding	Benign
9	37422751	A	G	A37422751G	GRHPR	NM_012203.2(GRHPR):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
9	37424863	G	A	G37424863A	GRHPR	NM_012203.2(GRHPR):c.102G>A:p.Trp34Ter	coding	Pathogenic/Likely_pathogenic
9	37424868	C	A	C37424868A	GRHPR	NM_012203.2(GRHPR):c.107C>A:p.Ser36Ter	coding	Pathogenic
9	37425245	C	G	C37425245G	GRHPR	NM_012203.2(GRHPR):c.214+270C>G	noncoding	Benign
9	37425941	C	T	C37425941T	GRHPR	NM_012203.2(GRHPR):c.234C>T:p.Ile78=	coding	Benign/Likely_benign
9	37425981	G	T	G37425981T	GRHPR	NM_012203.2(GRHPR):c.274G>T:p.Glu92Ter	coding	Pathogenic
9	37426129	G	C	G37426129C	GRHPR	NM_012203.2(GRHPR):c.287+135G>C	noncoding	Benign
9	37426155	A	G	A37426155G	GRHPR	NM_012203.2(GRHPR):c.287+161A>G	noncoding	Benign
9	37426637	C	A	C37426637A	GRHPR	NM_012203.2(GRHPR):c.387C>A:p.Ala129=	coding	Benign
9	37429404	C	T	C37429404T	GRHPR	NM_012203.2(GRHPR):c.494-328C>T	noncoding	Benign
9	37429500	C	T	C37429500T	GRHPR	NM_012203.2(GRHPR):c.494-232C>T	noncoding	Benign
9	37429664	A	G	A37429664G	GRHPR	NM_012203.2(GRHPR):c.494-68A>G	noncoding	Benign
9	37430548	C	T	C37430548T	GRHPR	NM_012203.2(GRHPR):c.636C>T:p.Ile212=	coding	Benign
9	37432267	T	C	T37432267C	GRHPR	NM_012203.2(GRHPR):c.865+129T>C	noncoding	Benign
9	37436699	C	T	C37436699T	GRHPR	NM_012203.2(GRHPR):c.904C>T:p.Arg302Cys	coding	Pathogenic/Likely_pathogenic
9	37781121	A	G	A37781121G	EXOSC3	NM_016042.4(EXOSC3):c.627-241T>C	noncoding	Benign
9	37783619	T	C	T37783619C	EXOSC3	NM_016042.4(EXOSC3):c.474+295A>G	noncoding	Benign
9	37783728	T	A	T37783728A	EXOSC3	NM_016042.4(EXOSC3):c.474+186A>T	noncoding	Benign
9	37784226	A	C	A37784226C	EXOSC3	NM_016042.4(EXOSC3):c.325-163T>G	noncoding	Benign
9	37784807	C	A	C37784807A	EXOSC3	NM_016042.4(EXOSC3):c.238G>T:p.Val80Phe	coding	Pathogenic/Likely_pathogenic
9	38392607	G	T	G38392607T	ALDH1B1	Single_allele	noncoding	Benign
9	38397358	G	C	G38397358C	ALDH1B1	NM_000692.5(ALDH1B1):c.*56G>C	noncoding	Benign
9	68357096	G	A	G68357096A	PGM5	NM_021965.4(PGM5):c.-32G>A	noncoding	Benign
9	69012840	G	C	G69012840C	PRKACG	NM_002732.4(PRKACG):c.*197C>G	noncoding	Benign
9	69014368	A	G	A69014368G	PRKACG	Single_allele	noncoding	Benign
9	69035850	C	T	C69035850T	FXN	NM_000144.5(FXN):c.68C>T:p.Thr23Ile	coding	Benign
9	69035944	C	T	C69035944T	FXN	NM_000144.5(FXN):c.162C>T:p.Arg54=	coding	Benign/Likely_benign
9	69046200	G	A	G69046200A	FXN	NM_000144.5(FXN):c.166-185G>A	noncoding	Benign
9	69053070	G	A	G69053070A	FXN	NM_000144.5(FXN):c.264-70G>A	noncoding	Benign
9	69053281	T	C	T69053281C	FXN	NM_000144.5(FXN):c.384+21T>C	noncoding	Benign
9	69065020	T	C	T69065020C	FXN	NM_000144.5(FXN):c.467T>C:p.Leu156Pro	coding	Pathogenic
9	69065021	A	G	A69065021G	FXN	NM_000144.5(FXN):c.468A>G:p.Leu156_Ser157=	coding	Benign
9	69072437	T	G	T69072437G	FXN	NM_000144.5(FXN):c.483-175T>G	noncoding	Benign
9	69072524	C	T	C69072524T	FXN	NM_000144.5(FXN):c.483-88C>T	noncoding	Benign
9	69073008	C	T	C69073008T	FXN	NM_000144.5(FXN):c.*246C>T	coding	Benign
9	69099647	G	A	G69099647A	FXN	Single_allele	noncoding	Benign
9	69099654	A	G	A69099654G	FXN	Single_allele	noncoding	Benign
9	69099777	C	T	C69099777T	FXN	Single_allele	noncoding	Benign
9	69173991	G	A	G69173991A	TJP2	NM_001170414.2(TJP2):c.-10+22220G>A	noncoding	Benign
9	69174033	C	A	C69174033A	TJP2	NM_001170414.2(TJP2):c.-10+22262C>A	noncoding	Benign
9	69174188	G	A	G69174188A	TJP2	NM_004817.3(TJP2):c.-185G>A	noncoding	Benign
9	69174240	C	T	C69174240T	TJP2	NM_004817.3(TJP2):c.-133C>T	noncoding	Benign
9	69204747	G	T	G69204747T	TJP2	NM_004817.4(TJP2):c.61-7801G>T	noncoding	Benign
9	69204856	T	C	T69204856C	TJP2	NM_004817.4(TJP2):c.61-7692T>C	noncoding	Benign
9	69205092	A	G	A69205092G	TJP2	NM_004817.4(TJP2):c.61-7456A>G	coding	Benign
9	69212702	T	C	T69212702C	TJP2	NM_004817.4(TJP2):c.114+101T>C	noncoding	Benign
9	69216110	C	A	C69216110A	TJP2	NM_004817.4(TJP2):c.115-229C>A	noncoding	Benign
9	69216245	T	G	T69216245G	TJP2	NM_004817.4(TJP2):c.115-94T>G	noncoding	Benign
9	69218461	C	T	C69218461T	TJP2	NM_004817.4(TJP2):c.342+102C>T	noncoding	Benign
9	69220859	G	A	G69220859A	TJP2	NM_004817.4(TJP2):c.343-28G>A	noncoding	Benign
9	69225009	G	C	G69225009C	TJP2	NM_004817.4(TJP2):c.953-295G>C	noncoding	Benign
9	69225129	T	G	T69225129G	TJP2	NM_004817.4(TJP2):c.953-175T>G	noncoding	Benign
9	69225562	A	T	A69225562T	TJP2	NM_004817.4(TJP2):c.1056+155A>T	noncoding	Benign
9	69227463	A	T	A69227463T	TJP2	NM_004817.4(TJP2):c.1211-302A>T	noncoding	Benign
9	69227475	C	T	C69227475T	TJP2	NM_004817.4(TJP2):c.1211-290C>T	noncoding	Benign
9	69230155	G	A	G69230155A	TJP2	NM_004817.4(TJP2):c.1594G>A:p.Gly532Arg	coding	Pathogenic
9	69234256	C	G	C69234256G	TJP2	NM_004817.4(TJP2):c.1672-183C>G	noncoding	Benign
9	69234602	A	T	A69234602T	TJP2	NM_004817.4(TJP2):c.1780+55A>T	noncoding	Benign
9	69234850	C	T	C69234850T	TJP2	NM_004817.4(TJP2):c.1780+303C>T	noncoding	Benign
9	69235913	G	A	G69235913A	TJP2	NM_004817.4(TJP2):c.1781-115G>A	noncoding	Benign
9	69235937	G	A	G69235937A	TJP2	NM_004817.4(TJP2):c.1781-91G>A	noncoding	Benign
9	69236012	T	C	T69236012C	TJP2	NM_004817.4(TJP2):c.1781-16T>C	noncoding	Benign
9	69236292	A	G	A69236292G	TJP2	NM_004817.4(TJP2):c.1991+54A>G	noncoding	Benign
9	69236355	C	T	C69236355T	TJP2	NM_004817.4(TJP2):c.1991+117C>T	noncoding	Benign
9	69236499	G	A	G69236499A	TJP2	NM_004817.4(TJP2):c.1991+261G>A	noncoding	Benign
9	69237028	C	T	C69237028T	TJP2	NM_004817.4(TJP2):c.2071C>T:p.Gln691Ter	coding	Pathogenic
9	69237288	A	G	A69237288G	TJP2	NM_004817.4(TJP2):c.2179+152A>G	noncoding	Benign
9	69237831	C	T	C69237831T	TJP2	NM_004817.4(TJP2):c.2180-47C>T	noncoding	Benign
9	69237844	G	A	G69237844A	TJP2	NM_004817.4(TJP2):c.2180-34G>A	noncoding	Benign
9	69239811	C	G	C69239811G	TJP2	NM_004817.4(TJP2):c.2356-126C>G	noncoding	Benign
9	69239853	C	G	C69239853G	TJP2	NM_004817.4(TJP2):c.2356-84C>G	noncoding	Benign
9	69240105	C	T	C69240105T	TJP2	NM_004817.4(TJP2):c.2524C>T:p.Gln842Ter	coding	Pathogenic
9	69240206	G	A	G69240206A	TJP2	NM_004817.4(TJP2):c.2566+59G>A	noncoding	Benign
9	69240354	A	G	A69240354G	TJP2	NM_004817.4(TJP2):c.2566+207A>G	noncoding	Benign
9	69246929	A	G	A69246929G	TJP2	NM_004817.4(TJP2):c.2667+139A>G	noncoding	Benign
9	69247741	A	T	A69247741T	TJP2	NM_004817.4(TJP2):c.2668-271A>T	noncoding	Benign
9	69247901	C	A	C69247901A	TJP2	NM_004817.4(TJP2):c.2668-111C>A	noncoding	Benign
9	69248447	C	T	C69248447T	TJP2	NM_004817.4(TJP2):c.2880+223C>T	coding	Benign
9	69250919	G	A	G69250919A	TJP2	NM_004817.4(TJP2):c.2992-116G>A	noncoding	Benign
9	69251233	G	T	G69251233T	TJP2	NM_004817.4(TJP2):c.3190G>T:p.Val1064Leu	coding	Benign/Likely_benign
9	69251526	C	T	C69251526T	TJP2	NM_004817.4(TJP2):c.3321+162C>T	noncoding	Benign
9	69252818	G	T	G69252818T	TJP2	NM_004817.4(TJP2):c.3325G>T:p.Glu1109Ter	coding	Pathogenic
9	69254110	C	T	C69254110T	TJP2	NM_004817.4(TJP2):c.3408-99C>T	noncoding	Benign
9	69254557	G	A	G69254557A	TJP2	NM_004817.4(TJP2):c.*183G>A	noncoding	Benign
9	69336219	C	T	C69336219T	FAM189A2	NM_001347995.2(FAM189A2):c.421C>T:p.Leu141Phe	noncoding	Benign
9	69371360	G	C	G69371360C	FAM189A2	NM_001347995.2(FAM189A2):c.472-139G>C	noncoding	Benign
9	69371399	T	C	T69371399C	FAM189A2	NM_001347995.2(FAM189A2):c.472-100T>C	noncoding	Benign
9	69371400	G	A	G69371400A	FAM189A2	NM_001347995.2(FAM189A2):c.472-99G>A	noncoding	Benign
9	69371889	A	C	A69371889C	FAM189A2	NM_001347995.2(FAM189A2):c.582+280A>C	noncoding	Benign
9	69376112	C	T	C69376112T	FAM189A2	NM_001347995.2(FAM189A2):c.711+248C>T	noncoding	Benign
9	69383475	T	G	T69383475G	FAM189A2	NM_001347995.2(FAM189A2):c.954-155T>G	noncoding	Benign
9	69385758	C	T	C69385758T	FAM189A2	NM_001347995.2(FAM189A2):c.1163-37C>T	noncoding	Benign
9	69385764	T	A	T69385764A	FAM189A2	NM_001347995.2(FAM189A2):c.1163-31T>A	noncoding	Benign
9	69386238	C	A	C69386238A	FAM189A2	NM_001347995.2(FAM189A2):c.1315+291C>A	noncoding	Benign
9	69388043	A	C	A69388043C	FAM189A2	NM_001347995.2(FAM189A2):c.1316-115A>C	noncoding	Benign
9	69388120	T	C	T69388120C	FAM189A2	NM_001347995.2(FAM189A2):c.1316-38T>C	noncoding	Benign
9	69388613	G	A	G69388613A	FAM189A2	NM_001347995.2(FAM189A2):c.1608+163G>A	noncoding	Benign
9	69391357	A	T	A69391357T	FAM189A2	NM_001347995.2(FAM189A2):c.1609-244A>T	noncoding	Benign
9	70536068	C	T	C70536068T	TRPM3	NM_001366145.2(TRPM3):c.5045G>A:p.Arg1682Gln	coding	Benign
9	70536799	C	T	C70536799T	TRPM3	NM_001366145.2(TRPM3):c.4314G>A:p.Leu1438=	coding	Benign
9	70537054	C	T	C70537054T	TRPM3	NM_001366145.2(TRPM3):c.4059G>A:p.Ser1353=	coding	Benign
9	70553042	T	C	T70553042C	TRPM3	NM_001366145.2(TRPM3):c.3376A>G:p.Asn1126Asp	coding	Pathogenic
9	70598463	C	T	C70598463T	TRPM3	NM_001366145.2(TRPM3):c.3004G>A:p.Val1002Met	coding	Pathogenic/Likely_pathogenic
9	70618945	G	A	G70618945A	TRPM3	NM_001366145.2(TRPM3):c.2280C>T:p.Ile760=	coding	Benign
9	70809994	C	T	C70809994T	MIR204	NM_001366145.2(TRPM3):c.973+17853G>A	coding	Benign
9	70846421	T	A	T70846421A	TRPM3	NM_001366145.2(TRPM3):c.633A>T:p.Ala211=	coding	Benign
9	72360795	T	C	T72360795C	ZFAND5	NM_001102420.3(ZFAND5):c.-9-8A>G	noncoding	Benign
9	72616301	G	A	G72616301A	TMC1	NM_138691.3(TMC1):c.-305-67G>A	noncoding	Benign
9	72648854	C	T	C72648854T	TMC1	NM_138691.3(TMC1):c.16+190C>T	noncoding	Benign
9	72694227	G	A	G72694227A	TMC1	NM_138691.3(TMC1):c.65-316G>A	noncoding	Benign
9	72694930	T	C	T72694930C	TMC1	NM_138691.3(TMC1):c.236+216T>C	noncoding	Benign
9	72700633	G	T	G72700633T	TMC1	NM_138691.3(TMC1):c.352G>T:p.Glu118Ter	coding	Pathogenic
9	72700743	T	C	T72700743C	TMC1	NM_138691.3(TMC1):c.362+100T>C	noncoding	Benign
9	72742599	G	A	G72742599A	TMC1	NM_138691.3(TMC1):c.535+74G>A	noncoding	Benign
9	72742626	A	G	A72742626G	TMC1	NM_138691.3(TMC1):c.535+101A>G	noncoding	Benign
9	72742726	A	G	A72742726G	TMC1	NM_138691.3(TMC1):c.535+201A>G	noncoding	Benign
9	72742744	G	A	G72742744A	TMC1	NM_138691.3(TMC1):c.535+219G>A	noncoding	Benign
9	72754617	A	T	A72754617T	TMC1	NM_138691.3(TMC1):c.643-169A>T	noncoding	Benign
9	72772468	T	C	T72772468C	TMC1	NM_138691.3(TMC1):c.797T>C:p.Ile266Thr	coding	Pathogenic
9	72772493	G	A	G72772493A	TMC1	NM_138691.3(TMC1):c.822G>A:p.Pro274=	coding	Benign/Likely_benign
9	72772873	A	G	A72772873G	TMC1	NM_138691.3(TMC1):c.884+318A>G	noncoding	Benign
9	72788568	T	C	T72788568C	TMC1	NM_138691.3(TMC1):c.1029+85T>C	noncoding	Benign
9	72791610	A	G	A72791610G	TMC1	NM_138691.3(TMC1):c.1225-276A>G	noncoding	Benign
9	72791911	G	A	G72791911A	TMC1	NM_138691.3(TMC1):c.1250G>A:p.Gly417Glu	coding	Pathogenic
9	72792081	G	A	G72792081A	TMC1	NM_138691.3(TMC1):c.1404+16G>A	noncoding	Benign
9	72792115	C	T	C72792115T	TMC1	NM_138691.3(TMC1):c.1404+50C>T	noncoding	Benign
9	72792360	C	T	C72792360T	TMC1	NM_138691.3(TMC1):c.1566+8C>T	noncoding	Benign/Likely_benign
9	72792521	G	C	G72792521C	TMC1	NM_138691.3(TMC1):c.1566+169G>C	noncoding	Benign
9	72805315	T	A	T72805315A	TMC1	NM_138691.3(TMC1):c.1567-67T>A	noncoding	Benign
9	72816333	G	A	G72816333A	TMC1	NM_138691.3(TMC1):c.1763+123G>A	noncoding	Benign
9	72820523	G	A	G72820523A	TMC1	NM_138691.3(TMC1):c.1764-319G>A	noncoding	Benign
9	72820674	T	C	T72820674C	TMC1	NM_138691.3(TMC1):c.1764-168T>C	noncoding	Benign
9	72827009	T	A	T72827009A	TMC1	NM_138691.3(TMC1):c.2129+15T>A	noncoding	Benign/Likely_benign
9	72830578	C	T	C72830578T	TMC1	NM_138691.3(TMC1):c.2208+49C>T	noncoding	Benign
9	72830988	C	A	C72830988A	TMC1	NM_138691.3(TMC1):c.2260+306C>A	noncoding	Benign
9	72835936	C	T	C72835936T	TMC1	NM_138691.3(TMC1):c.2261-15C>T	noncoding	Benign
9	72835938	G	T	G72835938T	TMC1	NM_138691.3(TMC1):c.2261-13G>T	noncoding	Benign
9	74498003	C	A	C74498003A	RORB	NM_006914.4(RORB):c.7+20C>A	noncoding	Benign
9	74498003	C	T	C74498003T	RORB	NM_006914.4(RORB):c.7+20C>T	noncoding	Benign
9	74630377	T	G	T74630377G	RORB	NM_006914.4(RORB):c.93+10T>G	noncoding	Benign
9	74634630	G	A	G74634630A	RORB	NM_006914.4(RORB):c.94-1G>A	noncoding	Pathogenic
9	74634739	C	T	C74634739T	RORB	NM_006914.4(RORB):c.202C>T:p.Gln68Ter	coding	Pathogenic
9	74634756	A	G	A74634756G	RORB	NM_006914.4(RORB):c.219A>G:p.Leu73=	coding	Benign
9	74642427	G	A	G74642427A	RORB	NM_006914.4(RORB):c.249G>A:p.Gly83=	coding	Benign
9	74642430	G	A	G74642430A	RORB	NM_006914.4(RORB):c.252G>A:p.Arg84=	coding	Benign
9	74642532	T	C	T74642532C	RORB	NM_006914.4(RORB):c.354T>C:p.Leu118=	coding	Benign
9	74642601	T	G	T74642601G	RORB	NM_006914.4(RORB):c.423T>G:p.Tyr141Ter	coding	Pathogenic
9	74642649	C	T	C74642649T	RORB	NM_006914.4(RORB):c.471C>T:p.Asn157=	coding	Benign
9	74642724	T	C	T74642724C	RORB	NM_006914.4(RORB):c.546T>C:p.Pro182=	coding	Benign
9	74642809	G	T	G74642809T	RORB	NM_006914.4(RORB):c.631G>T:p.Glu211Ter	coding	Pathogenic
9	74660600	G	A	G74660600A	RORB	NM_006914.4(RORB):c.638-17G>A	noncoding	Benign
9	74660601	A	C	A74660601C	RORB	NM_006914.4(RORB):c.638-16A>C	noncoding	Benign
9	74660652	G	T	G74660652T	RORB	NM_006914.4(RORB):c.673G>T:p.Glu225Ter	coding	Pathogenic
9	74660693	G	A	G74660693A	RORB	NM_006914.4(RORB):c.714G>A:p.Ala238=	coding	Benign
9	74662626	G	A	G74662626A	RORB	NM_006914.4(RORB):c.892+20G>A	noncoding	Benign
9	74665543	C	T	C74665543T	RORB	NM_006914.4(RORB):c.948C>T:p.Asn316=	coding	Benign
9	74667835	T	C	T74667835C	RORB	NM_006914.4(RORB):c.1045T>C:p.Leu349=	coding	Benign
9	74671773	C	G	C74671773G	RORB	NM_006914.4(RORB):c.1112-16C>G	noncoding	Benign
9	74671791	C	T	C74671791T	RORB	NM_006914.4(RORB):c.1114C>T:p.Arg372Ter	coding	Pathogenic
9	74685558	A	C	A74685558C	RORB	NM_006914.4(RORB):c.1320A>C:p.Thr440=	coding	Benign
9	74724781	A	T	A74724781T	TRPM6	NM_017662.5(TRPM6):c.5936-35T>A	noncoding	Benign
9	74727899	C	G	C74727899G	TRPM6	NM_017662.5(TRPM6):c.5935+340G>C	noncoding	Benign
9	74727947	A	T	A74727947T	TRPM6	NM_017662.5(TRPM6):c.5935+292T>A	noncoding	Benign
9	74727978	G	A	G74727978A	TRPM6	NM_017662.5(TRPM6):c.5935+261C>T	noncoding	Benign
9	74738249	T	C	T74738249C	TRPM6	NM_017662.5(TRPM6):c.5776+158A>G	noncoding	Benign
9	74738384	T	C	T74738384C	TRPM6	NM_017662.5(TRPM6):c.5776+23A>G	noncoding	Benign
9	74739896	G	A	G74739896A	TRPM6	NM_017662.5(TRPM6):c.5314C>T:p.Arg1772Ter	coding	Pathogenic
9	74740028	G	T	G74740028T	TRPM6	NM_017662.5(TRPM6):c.5201-19C>A	noncoding	Benign
9	74743829	T	C	T74743829C	TRPM6	NM_017662.5(TRPM6):c.5134+266A>G	noncoding	Benign
9	74747568	A	G	A74747568G	TRPM6	NM_017662.5(TRPM6):c.5083+321T>C	noncoding	Benign
9	74747836	G	A	G74747836A	TRPM6	NM_017662.5(TRPM6):c.5083+53C>T	noncoding	Benign
9	74761870	C	T	C74761870T	TRPM6	NM_017662.5(TRPM6):c.4673-62G>A	noncoding	Benign
9	74762102	T	A	T74762102A	TRPM6	NM_017662.5(TRPM6):c.4569A>T:p.Thr1523=	coding	Benign/Likely_benign
9	74762614	G	A	G74762614A	TRPM6	NM_017662.5(TRPM6):c.4057C>T:p.Arg1353Ter	coding	Pathogenic
9	74763166	G	A	G74763166A	TRPM6	NM_017662.5(TRPM6):c.3537-32C>T	noncoding	Benign
9	74763276	C	T	C74763276T	TRPM6	NM_017662.5(TRPM6):c.3537-142G>A	noncoding	Benign
9	74763332	A	G	A74763332G	TRPM6	NM_017662.5(TRPM6):c.3537-198T>C	noncoding	Benign
9	74771384	C	G	C74771384G	TRPM6	NM_017662.5(TRPM6):c.3536+319G>C	noncoding	Benign
9	74771575	G	A	G74771575A	TRPM6	NM_017662.5(TRPM6):c.3536+128C>T	noncoding	Benign
9	74772022	T	C	T74772022C	TRPM6	NM_017662.5(TRPM6):c.3404-187A>G	noncoding	Benign
9	74772066	G	A	G74772066A	TRPM6	NM_017662.5(TRPM6):c.3404-231C>T	noncoding	Benign
9	74775717	G	A	G74775717A	TRPM6	NM_017662.5(TRPM6):c.3403+166C>T	noncoding	Benign
9	74775735	C	T	C74775735T	TRPM6	NM_017662.5(TRPM6):c.3403+148G>A	noncoding	Benign
9	74776144	T	C	T74776144C	TRPM6	NM_017662.5(TRPM6):c.3210-68A>G	noncoding	Benign
9	74776209	G	A	G74776209A	TRPM6	NM_017662.5(TRPM6):c.3210-133C>T	noncoding	Benign
9	74782413	T	C	T74782413C	TRPM6	NM_017662.5(TRPM6):c.3158A>G:p.Tyr1053Cys	coding	Pathogenic
9	74782493	T	A	T74782493A	TRPM6	NM_017662.5(TRPM6):c.3095-17A>T	noncoding	Benign/Likely_benign
9	74782603	T	C	T74782603C	TRPM6	NM_017662.5(TRPM6):c.3094+76A>G	noncoding	Benign
9	74782677	A	G	A74782677G	TRPM6	NM_017662.5(TRPM6):c.3094+2T>C	noncoding	Pathogenic
9	74783032	A	G	A74783032G	TRPM6	NM_017662.5(TRPM6):c.2920-179T>C	noncoding	Benign
9	74785802	T	C	T74785802C	TRPM6	NM_017662.5(TRPM6):c.2919+72A>G	noncoding	Benign
9	74786011	G	A	G74786011A	TRPM6	NM_017662.5(TRPM6):c.2782C>T:p.Arg928Ter	coding	Pathogenic
9	74788287	G	A	G74788287A	TRPM6	NM_017662.5(TRPM6):c.2667+327C>T	noncoding	Benign
9	74788318	A	G	A74788318G	TRPM6	NM_017662.5(TRPM6):c.2667+296T>C	noncoding	Benign
9	74788928	G	A	G74788928A	TRPM6	NM_017662.5(TRPM6):c.2539-186C>T	noncoding	Benign
9	74789005	G	A	G74789005A	TRPM6	NM_017662.5(TRPM6):c.2539-263C>T	noncoding	Benign
9	74792562	C	A	C74792562A	TRPM6	NM_017662.5(TRPM6):c.2538+62G>T	noncoding	Benign
9	74792820	A	G	A74792820G	TRPM6	NM_017662.5(TRPM6):c.2392-50T>C	noncoding	Benign
9	74796474	T	C	T74796474C	TRPM6	NM_017662.5(TRPM6):c.2391+267A>G	noncoding	Benign
9	74801948	C	A	C74801948A	TRPM6	NM_017662.5(TRPM6):c.1959G>T:p.Lys653Asn	coding	Benign
9	74802275	C	G	C74802275G	TRPM6	NM_017662.5(TRPM6):c.1732-100G>C	noncoding	Benign
9	74802379	G	C	G74802379C	TRPM6	NM_017662.5(TRPM6):c.1732-204C>G	noncoding	Benign
9	74810541	T	A	T74810541A	TRPM6	NM_017662.5(TRPM6):c.1497+274A>T	noncoding	Benign
9	74810610	C	G	C74810610G	TRPM6	NM_017662.5(TRPM6):c.1497+205G>C	noncoding	Benign
9	74810722	A	C	A74810722C	TRPM6	NM_017662.5(TRPM6):c.1497+93T>G	noncoding	Benign
9	74811123	T	A	T74811123A	TRPM6	NM_017662.5(TRPM6):c.1444-255A>T	noncoding	Benign
9	74812257	T	C	T74812257C	TRPM6	NM_017662.5(TRPM6):c.1443+42A>G	noncoding	Benign
9	74812305	G	T	G74812305T	TRPM6	NM_017662.5(TRPM6):c.1437C>A:p.Tyr479Ter	coding	Pathogenic
9	74812727	G	C	G74812727C	TRPM6	NM_017662.5(TRPM6):c.1309-294C>G	noncoding	Benign
9	74816448	G	T	G74816448T	TRPM6	NM_017662.5(TRPM6):c.1308+221C>A	noncoding	Benign
9	74816662	A	C	A74816662C	TRPM6	NM_017662.5(TRPM6):c.1308+7T>G	noncoding	Pathogenic
9	74816668	C	A	C74816668A	TRPM6	NM_017662.5(TRPM6):c.1308+1G>T	noncoding	Pathogenic
9	74820165	C	A	C74820165A	TRPM6	NM_017662.5(TRPM6):c.1134+139G>T	noncoding	Benign
9	74821887	G	A	G74821887A	TRPM6	NM_017662.5(TRPM6):c.842-50C>T	noncoding	Benign
9	74827700	C	T	C74827700T	TRPM6	NM_017662.5(TRPM6):c.841+78G>A	noncoding	Benign
9	74827777	C	T	C74827777T	TRPM6	NM_017662.5(TRPM6):c.841+1G>A	noncoding	Pathogenic
9	74834396	C	T	C74834396T	TRPM6	NM_017662.5(TRPM6):c.545-274G>A	noncoding	Benign
9	74841882	T	C	T74841882C	TRPM6	NM_017662.5(TRPM6):c.330+284A>G	noncoding	Benign
9	74855807	T	A	T74855807A	TRPM6	NM_017662.5(TRPM6):c.114-242A>T	noncoding	Benign
9	74887044	A	G	A74887044G	TRPM6	NM_017662.5(TRPM6):c.33+780T>C	noncoding	Benign
9	74887216	G	A	G74887216A	TRPM6	NM_017662.5(TRPM6):c.33+608C>T	noncoding	Benign
9	74887244	G	A	G74887244A	TRPM6	NM_017662.5(TRPM6):c.33+580C>T	coding	Benign
9	74887304	G	C	G74887304C	TRPM6	NM_017662.5(TRPM6):c.33+520C>G	coding	Benign
9	74887406	C	T	C74887406T	TRPM6	NM_017662.5(TRPM6):c.33+418G>A	noncoding	Benign
9	74888019	T	C	T74888019C	TRPM6	NM_017662.4(TRPM6):c.-163A>G	noncoding	Benign/Likely_benign
9	74888023	T	G	T74888023G	TRPM6	NM_017662.4(TRPM6):c.-167A>C	noncoding	Benign/Likely_benign
9	74888153	C	T	C74888153T	TRPM6	Single_allele	noncoding	Benign
9	74888211	A	G	A74888211G	TRPM6	Single_allele	noncoding	Benign
9	74888255	G	T	G74888255T	TRPM6	Single_allele	noncoding	Benign
9	75891271	T	C	T75891271C	PCSK5	NM_001372043.1(PCSK5):c.90T>C:p.Cys30=	coding	Benign
9	76710843	C	T	C76710843T	PRUNE2	NM_015225.3(PRUNE2):c.1431G>A:p.Val477=	coding	Benign
9	77177103	C	G	C77177103G	VPS13A	Single_allele	noncoding	Benign
9	77177159	G	C	G77177159C	VPS13A	Single_allele	noncoding	Benign
9	77178004	G	T	G77178004T	VPS13A	NM_033305.3(VPS13A):c.100+200G>T	noncoding	Benign
9	77178029	G	A	G77178029A	VPS13A	NM_033305.3(VPS13A):c.100+225G>A	noncoding	Benign
9	77199649	C	T	C77199649T	VPS13A	NM_033305.3(VPS13A):c.101-296C>T	noncoding	Benign
9	77199883	A	G	A77199883G	VPS13A	NM_033305.3(VPS13A):c.101-62A>G	noncoding	Benign
9	77200003	T	C	T77200003C	VPS13A	NM_033305.3(VPS13A):c.144+15T>C	noncoding	Benign
9	77201363	A	T	A77201363T	VPS13A	NM_033305.3(VPS13A):c.145-2A>T	noncoding	Pathogenic
9	77205523	A	G	A77205523G	VPS13A	NM_033305.3(VPS13A):c.283+115A>G	noncoding	Benign
9	77205677	T	C	T77205677C	VPS13A	NM_033305.3(VPS13A):c.283+269T>C	noncoding	Benign
9	77206329	T	A	T77206329A	VPS13A	NM_033305.3(VPS13A):c.385+250T>A	noncoding	Benign
9	77206346	C	T	C77206346T	VPS13A	NM_033305.3(VPS13A):c.385+267C>T	noncoding	Benign
9	77209086	C	T	C77209086T	VPS13A	NM_033305.3(VPS13A):c.386-337C>T	noncoding	Benign
9	77212875	G	A	G77212875A	VPS13A	NM_033305.3(VPS13A):c.556-94G>A	noncoding	Benign
9	77213048	G	C	G77213048C	VPS13A	NM_033305.3(VPS13A):c.615+20G>C	noncoding	Benign/Likely_benign
9	77213151	C	T	C77213151T	VPS13A	NM_033305.3(VPS13A):c.616-83C>T	noncoding	Benign
9	77213265	G	A	G77213265A	VPS13A	NM_033305.3(VPS13A):c.647G>A:p.Trp216Ter	coding	Pathogenic
9	77213490	C	T	C77213490T	VPS13A	NM_033305.3(VPS13A):c.696+176C>T	noncoding	Benign
9	77214659	A	G	A77214659G	VPS13A	NM_033305.3(VPS13A):c.754+273A>G	noncoding	Benign
9	77219640	C	T	C77219640T	VPS13A	NM_033305.3(VPS13A):c.755-314C>T	noncoding	Benign
9	77220185	T	C	T77220185C	VPS13A	NM_033305.3(VPS13A):c.883-92T>C	noncoding	Benign
9	77220186	T	A	T77220186A	VPS13A	NM_033305.3(VPS13A):c.883-91T>A	noncoding	Benign
9	77220261	A	C	A77220261C	VPS13A	NM_033305.3(VPS13A):c.883-16A>C	noncoding	Benign
9	77220639	G	C	G77220639C	VPS13A	NM_033305.3(VPS13A):c.989+256G>C	noncoding	Benign
9	77220687	T	C	T77220687C	VPS13A	NM_033305.3(VPS13A):c.989+304T>C	noncoding	Benign
9	77220982	A	G	A77220982G	VPS13A	NM_033305.3(VPS13A):c.990-203A>G	noncoding	Benign
9	77221227	C	A	C77221227A	VPS13A	NM_033305.3(VPS13A):c.1032C>A:p.Cys344Ter	coding	Pathogenic
9	77221290	T	G	T77221290G	VPS13A	NM_033305.3(VPS13A):c.1095T>G:p.Tyr365Ter	coding	Pathogenic
9	77221294	G	T	G77221294T	VPS13A	NM_033305.3(VPS13A):c.1099G>T:p.Glu367Ter	coding	Pathogenic
9	77221490	G	A	G77221490A	VPS13A	NM_033305.3(VPS13A):c.1161+134G>A	noncoding	Benign
9	77225926	G	T	G77225926T	VPS13A	NM_033305.3(VPS13A):c.1162G>T:p.Glu388Ter	coding	Pathogenic
9	77225976	G	A	G77225976A	VPS13A	NM_033305.3(VPS13A):c.1212G>A:p.Thr404=	coding	Benign
9	77226127	T	C	T77226127C	VPS13A	NM_033305.3(VPS13A):c.1224+139T>C	noncoding	Benign
9	77226276	A	C	A77226276C	VPS13A	NM_033305.3(VPS13A):c.1225-190A>C	noncoding	Benign
9	77226531	G	A	G77226531A	VPS13A	NM_033305.3(VPS13A):c.1290G>A:p.Trp430Ter	coding	Pathogenic
9	77226554	C	G	C77226554G	VPS13A	NM_033305.3(VPS13A):c.1313C>G:p.Ser438Ter	coding	Pathogenic
9	77226875	G	A	G77226875A	VPS13A	NM_033305.3(VPS13A):c.1357+277G>A	noncoding	Benign
9	77237971	C	T	C77237971T	VPS13A	NM_033305.3(VPS13A):c.1596-31C>T	noncoding	Benign
9	77238000	A	G	A77238000G	VPS13A	NM_033305.3(VPS13A):c.1596-2A>G	noncoding	Pathogenic
9	77246940	A	G	A77246940G	VPS13A	NM_033305.3(VPS13A):c.1901-319A>G	noncoding	Benign
9	77247044	G	A	G77247044A	VPS13A	NM_033305.3(VPS13A):c.1901-215G>A	noncoding	Benign
9	77247403	C	A	C77247403A	VPS13A	NM_033305.3(VPS13A):c.2037+8C>A	noncoding	Benign/Likely_benign
9	77247586	T	C	T77247586C	VPS13A	NM_033305.3(VPS13A):c.2037+191T>C	noncoding	Benign
9	77250271	G	A	G77250271A	VPS13A	NM_033305.3(VPS13A):c.2170+42G>A	noncoding	Benign
9	77252061	C	T	C77252061T	VPS13A	NM_033305.3(VPS13A):c.2171-174C>T	noncoding	Benign
9	77252166	A	C	A77252166C	VPS13A	NM_033305.3(VPS13A):c.2171-69A>C	noncoding	Benign
9	77252372	T	C	T77252372C	VPS13A	NM_033305.3(VPS13A):c.2288+20T>C	noncoding	Benign
9	77252562	A	C	A77252562C	VPS13A	NM_033305.3(VPS13A):c.2288+210A>C	noncoding	Benign
9	77252594	T	C	T77252594C	VPS13A	NM_033305.3(VPS13A):c.2288+242T>C	noncoding	Benign
9	77260123	C	T	C77260123T	VPS13A	NM_033305.3(VPS13A):c.2326C>T:p.Arg776Ter	coding	Pathogenic
9	77273099	A	G	A77273099G	VPS13A	NM_033305.3(VPS13A):c.2428-181A>G	noncoding	Benign
9	77273101	T	G	T77273101G	VPS13A	NM_033305.3(VPS13A):c.2428-179T>G	noncoding	Benign
9	77273229	C	T	C77273229T	VPS13A	NM_033305.3(VPS13A):c.2428-51C>T	noncoding	Benign
9	77273230	G	A	G77273230A	VPS13A	NM_033305.3(VPS13A):c.2428-50G>A	noncoding	Benign
9	77273480	A	G	A77273480G	VPS13A	NM_033305.3(VPS13A):c.2512+116A>G	noncoding	Benign
9	77273578	A	C	A77273578C	VPS13A	NM_033305.3(VPS13A):c.2512+214A>C	noncoding	Benign
9	77275213	A	G	A77275213G	VPS13A	NM_033305.3(VPS13A):c.2513-285A>G	noncoding	Benign
9	77275578	C	T	C77275578T	VPS13A	NM_033305.3(VPS13A):c.2593C>T:p.Arg865Ter	coding	Pathogenic
9	77275664	G	A	G77275664A	VPS13A	NM_033305.3(VPS13A):c.2667+12G>A	noncoding	Benign/Likely_benign
9	77275811	C	T	C77275811T	VPS13A	NM_033305.3(VPS13A):c.2667+159C>T	noncoding	Benign
9	77275821	T	A	T77275821A	VPS13A	NM_033305.3(VPS13A):c.2667+169T>A	noncoding	Benign
9	77276321	T	G	T77276321G	VPS13A	NM_033305.3(VPS13A):c.2824+100T>G	noncoding	Benign
9	77280096	T	G	T77280096G	VPS13A	NM_033305.3(VPS13A):c.2825-63T>G	noncoding	Benign
9	77281650	G	A	G77281650A	VPS13A	NM_033305.3(VPS13A):c.2905-217G>A	noncoding	Benign
9	77281677	C	A	C77281677A	VPS13A	NM_033305.3(VPS13A):c.2905-190C>A	noncoding	Benign
9	77282239	A	G	A77282239G	VPS13A	NM_033305.3(VPS13A):c.3083A>G:p.Glu1028Gly	coding	Benign/Likely_benign
9	77282340	A	C	A77282340C	VPS13A	NM_033305.3(VPS13A):c.3118+66A>C	noncoding	Benign
9	77282340	A	G	A77282340G	VPS13A	NM_033305.3(VPS13A):c.3118+66A>G	noncoding	Benign
9	77282456	C	T	C77282456T	VPS13A	NM_033305.3(VPS13A):c.3118+182C>T	noncoding	Benign
9	77283016	G	T	G77283016T	VPS13A	NM_033305.3(VPS13A):c.3119-339G>T	noncoding	Benign
9	77283100	A	G	A77283100G	VPS13A	NM_033305.3(VPS13A):c.3119-255A>G	noncoding	Benign
9	77283468	G	T	G77283468T	VPS13A	NM_033305.3(VPS13A):c.3232G>T:p.Glu1078Ter	coding	Pathogenic
9	77293743	T	A	T77293743A	VPS13A	NM_033305.3(VPS13A):c.3507+235T>A	noncoding	Benign
9	77295302	T	C	T77295302C	VPS13A	NM_033305.3(VPS13A):c.3508-240T>C	noncoding	Benign
9	77295491	A	G	A77295491G	VPS13A	NM_033305.3(VPS13A):c.3508-51A>G	noncoding	Benign
9	77295498	G	T	G77295498T	VPS13A	NM_033305.3(VPS13A):c.3508-44G>T	noncoding	Benign
9	77302744	C	G	C77302744G	VPS13A	NM_033305.3(VPS13A):c.3813-171C>G	noncoding	Benign
9	77303015	C	T	C77303015T	VPS13A	NM_033305.3(VPS13A):c.3913C>T:p.Gln1305Ter	coding	Pathogenic
9	77307923	A	G	A77307923G	VPS13A	NM_033305.3(VPS13A):c.3961-22A>G	noncoding	Benign
9	77308150	C	T	C77308150T	VPS13A	NM_033305.3(VPS13A):c.4114+52C>T	noncoding	Benign
9	77314120	G	T	G77314120T	VPS13A	NM_033305.3(VPS13A):c.4242+1G>T	coding	Pathogenic
9	77314838	T	G	T77314838G	VPS13A	NM_033305.3(VPS13A):c.4412+174T>G	noncoding	Benign
9	77314879	C	A	C77314879A	VPS13A	NM_033305.3(VPS13A):c.4412+215C>A	noncoding	Benign
9	77315487	A	G	A77315487G	VPS13A	NM_033305.3(VPS13A):c.4630+17A>G	noncoding	Benign
9	77316072	T	C	T77316072C	VPS13A	NM_033305.3(VPS13A):c.4631-102T>C	noncoding	Benign
9	77316157	A	G	A77316157G	VPS13A	NM_033305.3(VPS13A):c.4631-17A>G	noncoding	Benign
9	77316661	G	A	G77316661A	VPS13A	NM_033305.3(VPS13A):c.4863+255G>A	noncoding	Benign
9	77317822	G	A	G77317822A	VPS13A	NM_033305.3(VPS13A):c.4956+124G>A	noncoding	Benign
9	77318559	C	T	C77318559T	VPS13A	NM_033305.3(VPS13A):c.5281C>T:p.Leu1761=	coding	Benign
9	77318889	T	C	T77318889C	VPS13A	NM_033305.3(VPS13A):c.5313+298T>C	noncoding	Benign
9	77320927	T	C	T77320927C	VPS13A	NM_033305.3(VPS13A):c.5416-242T>C	noncoding	Benign
9	77321037	A	G	A77321037G	VPS13A	NM_033305.3(VPS13A):c.5416-132A>G	noncoding	Benign
9	77323117	C	T	C77323117T	VPS13A	NM_033305.3(VPS13A):c.5881C>T:p.Arg1961Ter	coding	Pathogenic
9	77323225	C	T	C77323225T	VPS13A	NM_033305.3(VPS13A):c.5989C>T:p.Gln1997Ter	coding	Pathogenic
9	77331702	A	G	A77331702G	VPS13A	NM_033305.3(VPS13A):c.5992-308A>G	noncoding	Benign
9	77332371	T	C	T77332371C	VPS13A	NM_033305.3(VPS13A):c.6095+258T>C	noncoding	Benign
9	77337239	A	T	A77337239T	VPS13A	NM_033305.3(VPS13A):c.6096-16A>T	noncoding	Benign
9	77337516	C	A	C77337516A	VPS13A	NM_033305.3(VPS13A):c.6357C>A:p.Tyr2119Ter	coding	Pathogenic
9	77337667	A	G	A77337667G	VPS13A	NM_033305.3(VPS13A):c.6378+130A>G	noncoding	Benign
9	77339489	G	T	G77339489T	VPS13A	NM_033305.3(VPS13A):c.6379-27G>T	noncoding	Benign
9	77339494	G	T	G77339494T	VPS13A	NM_033305.3(VPS13A):c.6379-22G>T	noncoding	Benign
9	77339499	T	G	T77339499G	VPS13A	NM_033305.3(VPS13A):c.6379-17T>G	noncoding	Benign/Likely_benign
9	77339509	A	T	A77339509T	VPS13A	NM_033305.3(VPS13A):c.6379-7A>T	noncoding	Benign/Likely_benign
9	77339529	C	A	C77339529A	VPS13A	NM_033305.3(VPS13A):c.6392C>A:p.Ser2131Ter	coding	Pathogenic
9	77340244	G	T	G77340244T	VPS13A	NM_033305.3(VPS13A):c.6841G>T:p.Gly2281Ter	coding	Pathogenic
9	77340280	C	T	C77340280T	VPS13A	NM_033305.3(VPS13A):c.6877C>T:p.Gln2293Ter	coding	Pathogenic
9	77340385	G	C	G77340385C	VPS13A	NM_033305.3(VPS13A):c.6880-19G>C	noncoding	Benign/Likely_benign
9	77340529	G	A	G77340529A	VPS13A	NM_033305.3(VPS13A):c.7005G>A:p.Trp2335Ter	coding	Pathogenic
9	77340612	A	G	A77340612G	VPS13A	NM_033305.3(VPS13A):c.7026+62A>G	noncoding	Benign
9	77344099	A	G	A77344099G	VPS13A	NM_033305.3(VPS13A):c.7027-54A>G	noncoding	Benign
9	77344198	C	T	C77344198T	VPS13A	NM_033305.3(VPS13A):c.7072C>T:p.Gln2358Ter	coding	Pathogenic
9	77345067	T	G	T77345067G	VPS13A	NM_033305.3(VPS13A):c.7214T>G:p.Leu2405Ter	coding	Pathogenic
9	77345225	G	A	G77345225A	VPS13A	NM_033305.3(VPS13A):c.7289+83G>A	noncoding	Benign
9	77351094	T	C	T77351094C	VPS13A	NM_033305.3(VPS13A):c.7290-223T>C	noncoding	Benign
9	77351208	G	A	G77351208A	VPS13A	NM_033305.3(VPS13A):c.7290-109G>A	noncoding	Benign
9	77351447	G	A	G77351447A	VPS13A	NM_033305.3(VPS13A):c.7419+1G>A	coding	Pathogenic
9	77353197	A	G	A77353197G	VPS13A	NM_033305.3(VPS13A):c.7420-212A>G	noncoding	Benign
9	77353475	C	T	C77353475T	VPS13A	NM_033305.3(VPS13A):c.7486C>T:p.Gln2496Ter	coding	Pathogenic
9	77356506	C	T	C77356506T	VPS13A	NM_033305.3(VPS13A):c.7653-208C>T	noncoding	Benign
9	77357587	T	C	T77357587C	VPS13A	NM_033305.3(VPS13A):c.7807-105T>C	noncoding	Benign
9	77357752	C	T	C77357752T	VPS13A	NM_033305.3(VPS13A):c.7867C>T:p.Arg2623Ter	coding	Pathogenic
9	77359483	G	A	G77359483A	VPS13A	NM_033305.3(VPS13A):c.8105+81G>A	noncoding	Benign
9	77366776	C	G	C77366776G	VPS13A	NM_033305.3(VPS13A):c.8375C>G:p.Ser2792Ter	coding	Pathogenic
9	77367755	C	G	C77367755G	VPS13A	NM_033305.3(VPS13A):c.8472-300C>G	noncoding	Benign
9	77368037	T	C	T77368037C	VPS13A	NM_033305.3(VPS13A):c.8472-18T>C	noncoding	Benign
9	77368167	G	C	G77368167C	VPS13A	NM_033305.3(VPS13A):c.8553+31G>C	noncoding	Benign
9	77368290	A	G	A77368290G	VPS13A	NM_033305.3(VPS13A):c.8553+154A>G	noncoding	Benign
9	77368306	A	G	A77368306G	VPS13A	NM_033305.3(VPS13A):c.8553+170A>G	noncoding	Benign
9	77368363	G	A	G77368363A	VPS13A	NM_033305.3(VPS13A):c.8553+227G>A	noncoding	Benign
9	77369233	A	C	A77369233C	VPS13A	NM_033305.3(VPS13A):c.8554-66A>C	noncoding	Benign
9	77369409	C	A	C77369409A	VPS13A	NM_033305.3(VPS13A):c.8664C>A:p.Tyr2888Ter	coding	Pathogenic
9	77369518	A	G	A77369518G	VPS13A	NM_033305.3(VPS13A):c.8667+106A>G	noncoding	Benign
9	77371010	T	G	T77371010G	VPS13A	NM_033305.3(VPS13A):c.8954-16T>G	noncoding	Benign
9	77371204	G	C	G77371204C	VPS13A	NM_033305.3(VPS13A):c.9077+55G>C	noncoding	Benign
9	77371382	C	T	C77371382T	VPS13A	NM_033305.3(VPS13A):c.9077+233C>T	noncoding	Benign
9	77371446	C	T	C77371446T	VPS13A	NM_033305.3(VPS13A):c.9077+297C>T	noncoding	Benign
9	77381642	C	T	C77381642T	VPS13A	NM_033305.3(VPS13A):c.9078-334C>T	noncoding	Benign
9	77381843	A	G	A77381843G	VPS13A	NM_033305.3(VPS13A):c.9078-133A>G	noncoding	Benign
9	77381992	G	T	G77381992T	VPS13A	NM_033305.3(VPS13A):c.9094G>T:p.Glu3032Ter	coding	Pathogenic
9	77382208	T	C	T77382208C	VPS13A	NM_033305.3(VPS13A):c.9189+121T>C	noncoding	Benign
9	77384867	A	G	A77384867G	VPS13A	NM_033305.3(VPS13A):c.9189+2780A>G	coding	Benign
9	77384908	T	C	T77384908C	VPS13A	NM_033305.3(VPS13A):c.9189+2821T>C	coding	Benign
9	77403216	C	T	C77403216T	VPS13A	NM_033305.3(VPS13A):c.9190-20C>T	noncoding	Benign/Likely_benign
9	77403460	G	C	G77403460C	VPS13A	NM_033305.3(VPS13A):c.9275+139G>C	noncoding	Benign
9	77406184	T	C	T77406184C	VPS13A	NM_033305.3(VPS13A):c.9399+197T>C	noncoding	Benign
9	77407364	T	C	T77407364C	VPS13A	NM_033305.3(VPS13A):c.9400-169T>C	noncoding	Benign
9	77407499	A	T	A77407499T	VPS13A	NM_033305.3(VPS13A):c.9400-34A>T	noncoding	Benign
9	77407759	C	T	C77407759T	VPS13A	NM_033305.3(VPS13A):c.9474+152C>T	noncoding	Benign
9	77415913	G	T	G77415913T	VPS13A	NM_033305.3(VPS13A):c.9475-43G>T	noncoding	Benign
9	77429016	T	A	T77429016A	GNA14	NM_004297.4(GNA14):c.614A>T:p.Gln205Leu	coding	Pathogenic
9	77794222	C	G	C77794222G	GNAQ	NM_002072.5(GNAQ):c.735+241G>C	noncoding	Benign
9	77794429	A	G	A77794429G	GNAQ	NM_002072.5(GNAQ):c.735+34T>C	noncoding	Benign
9	77794571	T	A	T77794571A	GNAQ	NM_002072.5(GNAQ):c.627A>T:p.Gln209His	coding	Pathogenic
9	77794571	T	G	T77794571G	GNAQ	NM_002072.5(GNAQ):c.627A>C:p.Gln209His	coding	Pathogenic
9	77794896	G	A	G77794896A	GNAQ	NM_002072.5(GNAQ):c.606-304C>T	noncoding	Benign
9	77815886	C	A	C77815886A	GNAQ	NM_002072.5(GNAQ):c.322-116G>T	noncoding	Benign
9	77922227	C	G	C77922227G	GNAQ	NM_002072.5(GNAQ):c.255G>C:p.Thr85=	coding	Benign
9	77922339	C	A	C77922339A	GNAQ	NM_002072.5(GNAQ):c.143G>T:p.Gly48Val	coding	Pathogenic
9	78031617	C	T	C78031617T	GNAQ	NM_002072.5(GNAQ):c.-382G>A	noncoding	Benign
9	78031622	C	T	C78031622T	GNAQ	NM_002072.5(GNAQ):c.-387G>A	noncoding	Benign
9	78236227	C	T	C78236227T	CEP78	NM_001330691.3(CEP78):c.-124C>T	noncoding	Benign
9	78236623	A	G	A78236623G	CEP78	NM_001330691.3(CEP78):c.253+20A>G	noncoding	Benign
9	78236817	A	G	A78236817G	CEP78	NM_001330691.3(CEP78):c.253+214A>G	noncoding	Benign
9	78240273	C	T	C78240273T	CEP78	NM_001330691.3(CEP78):c.427-19C>T	noncoding	Benign
9	78240279	C	G	C78240279G	CEP78	NM_001330691.3(CEP78):c.427-13C>G	noncoding	Benign
9	78240305	C	A	C78240305A	CEP78	NM_001330691.3(CEP78):c.440C>A:p.Ser147Ter	coding	Pathogenic
9	78241539	T	G	T78241539G	CEP78	NM_001330691.3(CEP78):c.500-157T>G	noncoding	Benign
9	78241993	A	G	A78241993G	CEP78	NM_001330691.3(CEP78):c.603+194A>G	noncoding	Benign
9	78242036	A	G	A78242036G	CEP78	NM_001330691.3(CEP78):c.603+237A>G	noncoding	Benign
9	78248092	C	A	C78248092A	CEP78	NM_001330691.3(CEP78):c.893-199C>A	noncoding	Benign
9	78248172	G	A	G78248172A	CEP78	NM_001330691.3(CEP78):c.893-119G>A	noncoding	Benign
9	78248346	C	T	C78248346T	CEP78	NM_001330691.3(CEP78):c.948C>T:p.Ala316=	coding	Benign
9	78248770	G	A	G78248770A	CEP78	NM_001330691.3(CEP78):c.966G>A:p.Trp322Ter	coding	Pathogenic/Likely_pathogenic
9	78248813	C	T	C78248813T	CEP78	NM_001330691.3(CEP78):c.1009C>T:p.Gln337Ter	coding	Pathogenic
9	78249069	T	C	T78249069C	CEP78	NM_001330691.3(CEP78):c.1069+196T>C	noncoding	Benign
9	78251734	T	C	T78251734C	CEP78	NM_001330691.3(CEP78):c.1070-174T>C	noncoding	Benign
9	78252032	A	G	A78252032G	CEP78	NM_001330691.3(CEP78):c.1194A>G:p.Ala398=	coding	Benign/Likely_benign
9	78253115	T	C	T78253115C	CEP78	NM_001330691.3(CEP78):c.1206-117T>C	noncoding	Benign
9	78253269	C	T	C78253269T	CEP78	NM_001330691.3(CEP78):c.1243C>T:p.Gln415Ter	coding	Pathogenic
9	78253438	G	T	G78253438T	CEP78	NM_001330691.3(CEP78):c.1251+161G>T	noncoding	Benign
9	78262861	C	T	C78262861T	CEP78	NM_001330691.3(CEP78):c.1381-46C>T	noncoding	Benign
9	78262973	C	T	C78262973T	CEP78	NM_001330691.3(CEP78):c.1447C>T:p.Arg483Ter	coding	Pathogenic/Likely_pathogenic
9	78263134	A	G	A78263134G	CEP78	NM_001330691.3(CEP78):c.1458+150A>G	noncoding	Benign
9	78264089	A	T	A78264089T	CEP78	NM_001330691.3(CEP78):c.1459-61A>T	noncoding	Benign
9	78264149	G	T	G78264149T	CEP78	NM_001330691.3(CEP78):c.1459-1G>T	noncoding	Pathogenic
9	78265483	G	T	G78265483T	CEP78	NM_001330691.3(CEP78):c.1737G>T:p.Ala579=	coding	Benign
9	78265560	G	T	G78265560T	CEP78	NM_001330691.3(CEP78):c.1797+17G>T	noncoding	Benign
9	78265951	A	C	A78265951C	CEP78	NM_001330691.3(CEP78):c.1845+45A>C	noncoding	Benign
9	78266660	G	A	G78266660A	CEP78	NM_001330691.3(CEP78):c.2064G>A:p.Leu688=	coding	Benign
9	78266855	C	T	C78266855T	CEP78	NM_001330691.3(CEP78):c.2107+152C>T	noncoding	Benign
9	78297481	C	G	C78297481G	PSAT1	NM_058179.4(PSAT1):c.60+211C>G	noncoding	Benign
9	78300476	G	A	G78300476A	PSAT1	NM_058179.4(PSAT1):c.61-126G>A	noncoding	Benign
9	78300487	A	T	A78300487T	PSAT1	NM_058179.4(PSAT1):c.61-115A>T	noncoding	Benign
9	78301699	G	A	G78301699A	PSAT1	NM_058179.4(PSAT1):c.122-255G>A	noncoding	Benign
9	78301937	T	C	T78301937C	PSAT1	NM_058179.4(PSAT1):c.122-17T>C	noncoding	Benign
9	78302154	C	T	C78302154T	PSAT1	NM_058179.4(PSAT1):c.191+131C>T	noncoding	Benign
9	78302180	C	T	C78302180T	PSAT1	NM_058179.4(PSAT1):c.191+157C>T	noncoding	Benign
9	78306105	G	A	G78306105A	PSAT1	NM_058179.4(PSAT1):c.398-209G>A	noncoding	Benign
9	78306172	T	G	T78306172G	PSAT1	NM_058179.4(PSAT1):c.398-142T>G	noncoding	Benign
9	78306229	C	T	C78306229T	PSAT1	NM_058179.4(PSAT1):c.398-85C>T	noncoding	Benign
9	78306360	C	G	C78306360G	PSAT1	NM_058179.4(PSAT1):c.444C>G:p.Tyr148Ter	coding	Pathogenic
9	78306530	G	T	G78306530T	PSAT1	NM_058179.4(PSAT1):c.570+44G>T	noncoding	Benign
9	78306683	C	T	C78306683T	PSAT1	NM_058179.4(PSAT1):c.570+197C>T	noncoding	Benign
9	78308131	G	A	G78308131A	PSAT1	NM_058179.4(PSAT1):c.571-283G>A	noncoding	Benign
9	78308249	G	A	G78308249A	PSAT1	NM_058179.4(PSAT1):c.571-165G>A	noncoding	Benign
9	78308334	C	T	C78308334T	PSAT1	NM_058179.4(PSAT1):c.571-80C>T	noncoding	Benign
9	78308507	C	T	C78308507T	PSAT1	NM_058179.4(PSAT1):c.664C>T:p.Arg222Ter	coding	Pathogenic
9	78308693	C	T	C78308693T	PSAT1	NM_058179.4(PSAT1):c.740+110C>T	noncoding	Benign
9	78308694	A	G	A78308694G	PSAT1	NM_058179.4(PSAT1):c.740+111A>G	noncoding	Benign
9	78308713	T	G	T78308713G	PSAT1	NM_058179.4(PSAT1):c.740+130T>G	noncoding	Benign
9	78308759	T	C	T78308759C	PSAT1	NM_058179.4(PSAT1):c.740+176T>C	noncoding	Benign
9	78317599	C	A	C78317599A	PSAT1	NM_058179.4(PSAT1):c.741-77C>A	noncoding	Benign
9	78317658	T	A	T78317658A	PSAT1	NM_058179.4(PSAT1):c.741-18T>A	noncoding	Benign
9	78317773	G	T	G78317773T	PSAT1	NM_058179.4(PSAT1):c.838G>T:p.Glu280Ter	coding	Pathogenic
9	78317873	T	G	T78317873G	PSAT1	NM_058179.4(PSAT1):c.869+69T>G	noncoding	Benign
9	78317971	C	T	C78317971T	PSAT1	NM_058179.4(PSAT1):c.869+167C>T	noncoding	Benign
9	78318082	T	C	T78318082C	PSAT1	NM_058179.4(PSAT1):c.869+278T>C	noncoding	Benign
9	78318104	C	T	C78318104T	PSAT1	NM_058179.4(PSAT1):c.869+300C>T	noncoding	Benign
9	78327912	G	C	G78327912C	PSAT1	NM_058179.4(PSAT1):c.870-139G>C	noncoding	Benign
9	78327913	G	A	G78327913A	PSAT1	NM_058179.4(PSAT1):c.870-138G>A	noncoding	Benign
9	78328355	A	C	A78328355C	PSAT1	NM_058179.4(PSAT1):c.1007+167A>C	noncoding	Benign
9	78328685	G	A	G78328685A	PSAT1	NM_058179.4(PSAT1):c.1008-296G>A	noncoding	Benign
9	78328704	C	T	C78328704T	PSAT1	NM_058179.4(PSAT1):c.1008-277C>T	noncoding	Benign
9	78328970	G	T	G78328970T	PSAT1	NM_058179.4(PSAT1):c.1008-11G>T	noncoding	Benign/Likely_benign
9	83969988	A	G	A83969988G	HNRNPK	NM_031263.4(HNRNPK):c.1361+174T>C	noncoding	Benign
9	83970283	G	A	G83970283A	HNRNPK	NM_031263.4(HNRNPK):c.1240C>T:p.Arg414Cys	coding	Pathogenic
9	83971610	G	A	G83971610A	HNRNPK	NM_031263.4(HNRNPK):c.1008+62C>T	noncoding	Benign
9	83971868	A	C	A83971868C	HNRNPK	NM_031263.4(HNRNPK):c.953+14T>G	noncoding	Benign
9	83976789	G	A	G83976789A	HNRNPK	NM_031263.4(HNRNPK):c.213+206C>T	noncoding	Benign
9	83976833	A	C	A83976833C	HNRNPK	NM_031263.4(HNRNPK):c.213+162T>G	noncoding	Benign
9	83976942	T	C	T83976942C	HNRNPK	NM_031263.4(HNRNPK):c.213+53A>G	noncoding	Benign
9	83977111	A	G	A83977111G	HNRNPK	NM_031263.4(HNRNPK):c.157-60T>C	noncoding	Benign
9	83977523	G	A	G83977523A	HNRNPK	NM_031263.4(HNRNPK):c.156+166C>T	noncoding	Benign
9	83978013	A	C	A83978013C	HNRNPK	NM_031263.4(HNRNPK):c.58+182T>G	noncoding	Benign
9	83978162	A	T	A83978162T	HNRNPK	NM_031263.4(HNRNPK):c.58+33T>A	noncoding	Benign
9	83978399	G	C	G83978399C	HNRNPK	NM_031263.4(HNRNPK):c.-54C>G	noncoding	Benign
9	84286011	G	A	G84286011A	SLC28A3	NM_001199633.2(SLC28A3):c.1381C>T:p.Leu461=	coding	Benign
9	84670322	A	G	A84670322G	NTRK2	NM_006180.6(NTRK2):c.-372-55A>G	noncoding	Benign
9	84670680	C	G	C84670680G	NTRK2	NM_006180.6(NTRK2):c.-69C>G	noncoding	Benign
9	84671000	C	T	C84671000T	NTRK2	NM_006180.6(NTRK2):c.212+40C>T	noncoding	Benign
9	84671077	G	A	G84671077A	NTRK2	NM_006180.6(NTRK2):c.212+117G>A	noncoding	Benign
9	84701953	A	T	A84701953T	NTRK2	NM_006180.6(NTRK2):c.213-206A>T	noncoding	Benign
9	84702195	C	T	C84702195T	NTRK2	NM_006180.6(NTRK2):c.249C>T:p.Asn83=	coding	Benign
9	84702333	T	C	T84702333C	NTRK2	NM_006180.6(NTRK2):c.288-15T>C	noncoding	Benign
9	84702390	A	G	A84702390G	NTRK2	NM_006180.6(NTRK2):c.330A>G:p.Ala110=	coding	Benign
9	84707625	T	C	T84707625C	NTRK2	NM_006180.6(NTRK2):c.360-219T>C	noncoding	Benign
9	84711079	A	G	A84711079G	NTRK2	NM_006180.6(NTRK2):c.583+288A>G	noncoding	Benign
9	84723352	T	A	T84723352A	NTRK2	NM_006180.6(NTRK2):c.584-221T>A	noncoding	Benign
9	84723600	C	A	C84723600A	NTRK2	NM_006180.6(NTRK2):c.611C>A:p.Pro204His	coding	Benign
9	84724084	G	A	G84724084A	NTRK2	NM_006180.6(NTRK2):c.721-140G>A	noncoding	Benign
9	84727829	C	T	C84727829T	NTRK2	NM_006180.6(NTRK2):c.1029C>T:p.His343=	coding	Benign
9	84727871	G	C	G84727871C	NTRK2	NM_006180.6(NTRK2):c.1071G>C:p.Gly357=	coding	Benign
9	84741883	G	A	G84741883A	NTRK2	NM_006180.6(NTRK2):c.1160-9G>A	noncoding	Benign
9	84742198	A	G	A84742198G	NTRK2	NM_006180.6(NTRK2):c.1195+271A>G	noncoding	Benign
9	84744655	G	A	G84744655A	NTRK2	NM_006180.6(NTRK2):c.1196-318G>A	noncoding	Benign
9	84745037	A	G	A84745037G	NTRK2	NM_006180.6(NTRK2):c.1260A>G:p.Thr420=	coding	Benign
9	84745187	G	A	G84745187A	NTRK2	NM_006180.6(NTRK2):c.1296+114G>A	noncoding	Benign
9	84745238	G	A	G84745238A	NTRK2	NM_006180.6(NTRK2):c.1296+165G>A	noncoding	Benign
9	84866937	G	A	G84866937A	NTRK2	NM_006180.6(NTRK2):c.1445-306G>A	noncoding	Benign
9	84948227	T	C	T84948227C	NTRK2	NM_006180.6(NTRK2):c.1765-235T>C	noncoding	Benign
9	84948337	T	C	T84948337C	NTRK2	NM_006180.6(NTRK2):c.1765-125T>C	noncoding	Benign
9	84948455	T	C	T84948455C	NTRK2	NM_006180.6(NTRK2):c.1765-7T>C	noncoding	Benign
9	84948458	C	A	C84948458A	NTRK2	NM_006180.6(NTRK2):c.1765-4C>A	noncoding	Benign
9	84948545	C	A	C84948545A	NTRK2	NM_006180.6(NTRK2):c.1848C>A:p.Ile616=	coding	Benign
9	84955089	C	T	C84955089T	NTRK2	NM_006180.6(NTRK2):c.1938-194C>T	noncoding	Benign
9	84955228	C	T	C84955228T	NTRK2	NM_006180.6(NTRK2):c.1938-55C>T	noncoding	Benign
9	84955286	A	T	A84955286T	NTRK2	NM_006180.6(NTRK2):c.1941A>T:p.Ala647=	coding	Benign
9	84955686	G	A	G84955686A	NTRK2	NM_006180.6(NTRK2):c.2172+169G>A	noncoding	Benign
9	84955790	C	T	C84955790T	NTRK2	NM_006180.6(NTRK2):c.2172+273C>T	noncoding	Benign
9	85020625	C	T	C85020625T	NTRK2	NM_006180.6(NTRK2):c.2331+261C>T	noncoding	Benign
9	85741828	A	G	A85741828G	AGTPBP1	NM_001330701.2(AGTPBP1):c.-87T>C	coding	Benign
9	86266085	G	A	G86266085A	ISCA1	NM_030940.4(ISCA1):c.348C>T:p.Asn116=	coding	Benign
9	86271915	C	T	C86271915T	ISCA1	NM_030940.4(ISCA1):c.241+92G>A	noncoding	Benign
9	86945528	C	G	C86945528G	GAS1	NM_002048.3(GAS1):c.*214G>C	noncoding	Benign
9	86945534	G	A	G86945534A	GAS1	NM_002048.3(GAS1):c.*208C>T	noncoding	Benign
9	86946516	G	A	G86946516A	GAS1	NM_002048.3(GAS1):c.264C>T:p.Ala88=	coding	Benign
9	86946602	C	G	C86946602G	GAS1	NM_002048.3(GAS1):c.178G>C:p.Glu60Gln	coding	Benign
9	86947004	T	C	T86947004C	GAS1	NM_002048.3(GAS1):c.-225A>G	noncoding	Benign
9	86947246	C	A	C86947246A	GAS1	NM_002048.3(GAS1):c.-467G>T	noncoding	Benign
9	86947272	C	A	C86947272A	GAS1	NM_002048.3(GAS1):c.-493G>T	noncoding	Benign
9	86947439	C	T	C86947439T	GAS1	NM_002048.3(GAS1):c.-660G>A	noncoding	Benign
9	87967309	G	A	G87967309A	CDK20	NM_001039803.3(CDK20):c.*153C>T	noncoding	Benign
9	87969563	C	T	C87969563T	CDK20	NM_001039803.3(CDK20):c.688-214G>A	noncoding	Benign
9	87969963	G	A	G87969963A	CDK20	NM_001039803.3(CDK20):c.564-44C>T	noncoding	Benign
9	87971128	G	A	G87971128A	CDK20	NM_001039803.3(CDK20):c.378+19C>T	noncoding	Benign
9	87973899	C	G	C87973899G	CDK20	NM_001039803.3(CDK20):c.189+23G>C	noncoding	Benign
9	87973988	C	T	C87973988T	CDK20	NM_001039803.3(CDK20):c.123G>A:p.Glu41=	coding	Benign
9	87974055	C	A	C87974055A	CDK20	NM_001039803.3(CDK20):c.76-20G>T	coding	Benign
9	87974101	A	G	A87974101G	CDK20	NM_001039803.3(CDK20):c.76-66T>C	noncoding	Benign
9	87974587	G	C	G87974587C	CDK20	Single_allele	noncoding	Benign
9	89325602	C	T	C89325602T	SECISBP2	NM_024077.5(SECISBP2):c.358C>T:p.Arg120Ter	coding	Pathogenic
9	89350662	G	A	G89350662A	SECISBP2	NM_024077.5(SECISBP2):c.1923G>A:p.Val641=	coding	Benign/Likely_benign
9	89358038	C	T	C89358038T	SECISBP2	NM_024077.5(SECISBP2):c.2308C>T:p.Arg770Ter	coding	Pathogenic
9	90801254	A	G	A90801254G	SYK	Single_allele	noncoding	Benign
9	90887816	C	A	C90887816A	SYK	NM_003177.7(SYK):c.1649C>A:p.Ser550Tyr	coding	Pathogenic
9	91214431	A	G	A91214431G	AUH	NM_001698.3(AUH):c.943-6T>C	noncoding	Benign
9	91220927	G	A	G91220927A	AUH	NM_001698.3(AUH):c.721C>T:p.Arg241Ter	coding	Pathogenic
9	91296374	T	C	T91296374C	AUH	NM_001698.3(AUH):c.599-297A>G	noncoding	Benign
9	91325317	C	G	C91325317G	AUH	NM_001698.3(AUH):c.505+1G>C	noncoding	Pathogenic
9	91325511	T	C	T91325511C	AUH	NM_001698.3(AUH):c.419-107A>G	noncoding	Benign
9	91355824	T	C	T91355824C	AUH	NM_001698.3(AUH):c.418+59A>G	noncoding	Benign
9	91356087	C	T	C91356087T	AUH	NM_001698.3(AUH):c.330+1G>A	noncoding	Pathogenic
9	91724912	G	A	G91724912A	ROR2	NM_004560.4(ROR2):c.1582C>T:p.Arg528Ter	coding	Pathogenic
9	91725177	C	T	C91725177T	ROR2	NM_004560.4(ROR2):c.1387-70G>A	noncoding	Benign
9	91726308	A	G	A91726308G	ROR2	NM_004560.4(ROR2):c.1386+233T>C	noncoding	Benign
9	91726738	G	A	G91726738A	ROR2	NM_004560.4(ROR2):c.1189C>T:p.Arg397Ter	coding	Pathogenic
9	91726744	C	A	C91726744A	ROR2	NM_004560.4(ROR2):c.1184-1G>T	coding	Pathogenic
9	91726930	C	T	C91726930T	ROR2	NM_004560.4(ROR2):c.1184-187G>A	noncoding	Benign
9	91733106	G	A	G91733106A	ROR2	NM_004560.4(ROR2):c.937+16C>T	noncoding	Benign
9	91733315	C	T	C91733315T	ROR2	NM_004560.4(ROR2):c.744G>A:p.Pro248=	coding	Benign/Likely_benign
9	91733458	C	T	C91733458T	ROR2	NM_004560.4(ROR2):c.623-22G>A	noncoding	Benign
9	91733558	G	A	G91733558A	ROR2	NM_004560.4(ROR2):c.623-122C>T	noncoding	Benign
9	91737237	C	A	C91737237A	ROR2	NM_004560.4(ROR2):c.622+154G>T	noncoding	Benign
9	91737336	G	A	G91737336A	ROR2	NM_004560.4(ROR2):c.622+55C>T	noncoding	Benign
9	91737475	T	C	T91737475C	ROR2	NM_004560.4(ROR2):c.538A>G:p.Ile180Val	coding	Benign
9	91737682	T	C	T91737682C	ROR2	NM_004560.4(ROR2):c.495-164A>G	noncoding	Benign
9	91737683	G	A	G91737683A	ROR2	NM_004560.4(ROR2):c.495-165C>T	noncoding	Benign
9	91756080	T	C	T91756080C	ROR2	NM_004560.4(ROR2):c.485A>G:p.His162Arg	coding	Benign
9	91757066	C	G	C91757066G	ROR2	NM_004560.4(ROR2):c.463+206G>C	noncoding	Benign
9	91757079	C	T	C91757079T	ROR2	NM_004560.4(ROR2):c.463+193G>A	noncoding	Benign
9	91757878	G	A	G91757878A	ROR2	NM_004560.4(ROR2):c.176-319C>T	noncoding	Benign
9	91775724	T	C	T91775724C	ROR2	NM_004560.4(ROR2):c.175+17A>G	noncoding	Benign
9	91775885	T	C	T91775885C	ROR2	NM_004560.4(ROR2):c.98-67A>G	noncoding	Benign
9	91775918	C	T	C91775918T	ROR2	NM_004560.4(ROR2):c.98-100G>A	noncoding	Benign
9	91776106	G	A	G91776106A	ROR2	NM_004560.4(ROR2):c.98-288C>T	noncoding	Benign
9	91949649	T	C	T91949649C	ROR2	NM_004560.4(ROR2):c.97+218A>G	noncoding	Benign
9	91949667	G	T	G91949667T	ROR2	NM_004560.4(ROR2):c.97+200C>A	noncoding	Benign
9	91949774	G	A	G91949774A	ROR2	NM_004560.4(ROR2):c.97+93C>T	noncoding	Benign
9	91949869	G	T	G91949869T	ROR2	NM_004560.4(ROR2):c.95C>A:p.Ser32Ter	coding	Pathogenic
9	91949962	A	C	A91949962C	ROR2	NM_004560.4(ROR2):c.2T>G:p.Met1Arg	coding	Pathogenic
9	91950449	A	T	A91950449T	ROR2	Single_allele	noncoding	Benign
9	91950467	A	C	A91950467C	ROR2	Single_allele	noncoding	Benign
9	92032477	G	A	G92032477A	SPTLC1	NM_006415.4(SPTLC1):c.1410C>T:p.Ala470=	coding	Benign/Likely_benign
9	92045985	T	A	T92045985A	SPTLC1	NM_006415.4(SPTLC1):c.1136+14A>T	noncoding	Benign/Likely_benign
9	92047238	C	A	C92047238A	SPTLC1	NM_006415.4(SPTLC1):c.1015G>T:p.Ala339Ser	coding	Pathogenic
9	92050084	C	T	C92050084T	SPTLC1	NM_006415.4(SPTLC1):c.781-17G>A	noncoding	Benign
9	92115319	A	G	A92115319G	SPTLC1	NM_006415.4(SPTLC1):c.52T>C:p.Tyr18His	coding	Benign
9	92223355	T	C	T92223355C	IARS1	NM_002161.6(IARS1):c.3544A>G:p.Lys1182Glu	coding	Benign
9	92288189	A	C	A92288189C	IARS1	NM_002161.6(IARS1):c.213T>G:p.Tyr71Ter	coding	Pathogenic
9	92713365	G	T	G92713365T	BICD2	NM_001003800.2(BICD2):c.*1789C>A	noncoding	Benign
9	92713655	G	A	G92713655A	BICD2	NM_001003800.2(BICD2):c.*1499C>T	coding	Benign
9	92715402	C	T	C92715402T	BICD2	NM_001003800.2(BICD2):c.2320G>A:p.Glu774Lys	coding	Pathogenic
9	92717779	C	T	C92717779T	BICD2	NM_001003800.2(BICD2):c.2258+18G>A	noncoding	Benign/Likely_benign
9	92717780	G	A	G92717780A	BICD2	NM_001003800.2(BICD2):c.2258+17C>T	noncoding	Benign
9	92717782	C	G	C92717782G	BICD2	NM_001003800.2(BICD2):c.2258+15G>C	noncoding	Benign/Likely_benign
9	92718545	G	C	G92718545C	BICD2	NM_001003800.2(BICD2):c.2100C>G:p.Asn700Lys	coding	Pathogenic
9	92718565	G	A	G92718565A	BICD2	NM_001003800.2(BICD2):c.2080C>T:p.Arg694Cys	coding	Pathogenic/Likely_pathogenic
9	92718633	G	A	G92718633A	BICD2	NM_001003800.2(BICD2):c.2012C>T:p.Ala671Val	coding	Benign
9	92718920	G	C	G92718920C	BICD2	NM_001003800.2(BICD2):c.1725C>G:p.Pro575=	coding	Benign/Likely_benign
9	92718948	C	A	C92718948A	BICD2	NM_001003800.2(BICD2):c.1697G>T:p.Arg566Leu	coding	Benign
9	92719244	G	A	G92719244A	BICD2	NM_001003800.2(BICD2):c.1401C>T:p.His467=	coding	Benign
9	92719275	C	T	C92719275T	BICD2	NM_001003800.2(BICD2):c.1370G>A:p.Arg457His	coding	Benign/Likely_benign
9	92719453	G	A	G92719453A	BICD2	NM_001003800.2(BICD2):c.1192C>T:p.Arg398Trp	coding	Benign/Likely_benign
9	92719466	A	T	A92719466T	BICD2	NM_001003800.2(BICD2):c.1179T>A:p.Asn393Lys	coding	Benign/Likely_benign
9	92719712	C	T	C92719712T	BICD2	NM_001003800.2(BICD2):c.1063-130G>A	noncoding	Benign
9	92720381	C	T	C92720381T	BICD2	NM_001003800.2(BICD2):c.981G>A:p.Pro327=	coding	Benign/Likely_benign
9	92720501	G	A	G92720501A	BICD2	NM_001003800.2(BICD2):c.861C>T:p.Asp287=	coding	Benign/Likely_benign
9	92720609	G	A	G92720609A	BICD2	NM_001003800.2(BICD2):c.753C>T:p.Arg251=	coding	Benign/Likely_benign
9	92720916	A	G	A92720916G	BICD2	NM_001003800.2(BICD2):c.607-161T>C	noncoding	Benign
9	92722827	A	G	A92722827G	BICD2	NM_001003800.2(BICD2):c.454-19T>C	noncoding	Benign/Likely_benign
9	92729015	C	A	C92729015A	BICD2	NM_001003800.2(BICD2):c.453+9G>T	noncoding	Benign
9	92764485	G	T	G92764485T	BICD2	NM_001003800.2(BICD2):c.240+20C>A	noncoding	Benign
9	92764813	T	C	T92764813C	BICD2	NM_001003800.2(BICD2):c.-69A>G	noncoding	Benign
9	93451378	G	T	G93451378T	FAM120A	NM_198841.4(FAM120AOS):c.563+769C>A	noncoding	Benign
9	93451539	C	T	C93451539T	FAM120A	NM_198841.4(FAM120AOS):c.563+608G>A	noncoding	Benign
9	93452581	A	G	A93452581G	FAM120A	NM_014612.5(FAM120A):c.474+192A>G	coding	Benign
9	93452646	G	A	G93452646A	FAM120A	NM_014612.5(FAM120A):c.474+257G>A	coding	Benign
9	93476296	C	T	C93476296T	FAM120A	NM_014612.5(FAM120A):c.762C>T:p.His254=	coding	Benign
9	93476449	C	T	C93476449T	FAM120A	NM_014612.5(FAM120A):c.804+111C>T	noncoding	Benign
9	93497300	C	T	C93497300T	FAM120A	NM_014612.5(FAM120A):c.805-171C>T	noncoding	Benign
9	93515811	G	C	G93515811C	FAM120A	NM_014612.5(FAM120A):c.1131+44G>C	noncoding	Benign
9	93515816	C	T	C93515816T	FAM120A	NM_014612.5(FAM120A):c.1131+49C>T	noncoding	Benign
9	93515817	G	A	G93515817A	FAM120A	NM_014612.5(FAM120A):c.1131+50G>A	noncoding	Benign
9	93516009	C	T	C93516009T	FAM120A	NM_014612.5(FAM120A):c.1158C>T:p.Gly386=	coding	Benign
9	93516192	C	T	C93516192T	FAM120A	NM_014612.5(FAM120A):c.1341C>T:p.His447=	coding	Benign
9	93516293	G	A	G93516293A	FAM120A	NM_014612.5(FAM120A):c.1418+24G>A	noncoding	Benign
9	93516390	T	C	T93516390C	FAM120A	NM_014612.5(FAM120A):c.1418+121T>C	noncoding	Benign
9	93516502	T	G	T93516502G	FAM120A	NM_014612.5(FAM120A):c.1418+233T>G	noncoding	Benign
9	93526949	G	A	G93526949A	FAM120A	NM_014612.5(FAM120A):c.1419-206G>A	noncoding	Benign
9	93526987	C	T	C93526987T	FAM120A	NM_014612.5(FAM120A):c.1419-168C>T	noncoding	Benign
9	93527461	C	T	C93527461T	FAM120A	NM_014612.5(FAM120A):c.1506+219C>T	noncoding	Benign
9	93529743	A	T	A93529743T	FAM120A	NM_014612.5(FAM120A):c.1734+163A>T	coding	Benign
9	93529884	A	G	A93529884G	FAM120A	NM_014612.5(FAM120A):c.1734+304A>G	coding	Benign
9	93543700	T	C	T93543700C	FAM120A	NM_014612.5(FAM120A):c.2159+229T>C	noncoding	Benign
9	93550299	G	A	G93550299A	FAM120A	NM_014612.5(FAM120A):c.2160-278G>A	noncoding	Benign
9	93550730	C	T	C93550730T	FAM120A	NM_014612.5(FAM120A):c.2274+39C>T	noncoding	Benign
9	93556861	C	A	C93556861A	FAM120A	NM_014612.5(FAM120A):c.2484+270C>A	noncoding	Benign
9	93564074	G	A	G93564074A	FAM120A	NM_014612.5(FAM120A):c.3046-155G>A	noncoding	Benign
9	93564836	T	A	T93564836A	FAM120A	NM_014612.5(FAM120A):c.*296T>A	noncoding	Benign
9	93645638	C	T	C93645638T	PHF2	NM_005392.4(PHF2):c.309C>T:p.Asp103=	coding	Benign
9	93645654	C	T	C93645654T	PHF2	NM_005392.4(PHF2):c.325C>T:p.Pro109Ser	coding	Benign
9	93645701	C	T	C93645701T	PHF2	NM_005392.4(PHF2):c.372C>T:p.Thr124=	coding	Benign
9	94567343	C	T	C94567343T	FBP2	NM_003837.4(FBP2):c.632G>A:p.Ser211Asn	coding	Benign
9	94603594	C	T	C94603594T	FBP1	NM_000507.4(FBP1):c.826-22G>A	noncoding	Benign/Likely_benign
9	94603703	G	A	G94603703A	FBP1	NM_000507.4(FBP1):c.826-131C>T	noncoding	Benign
9	94609780	C	T	C94609780T	FBP1	NM_000507.4(FBP1):c.567+141G>A	noncoding	Benign
9	94610194	C	G	C94610194G	FBP1	NM_000507.4(FBP1):c.427-133G>C	noncoding	Benign
9	94617676	C	T	C94617676T	FBP1	NM_000507.4(FBP1):c.426+92G>A	noncoding	Benign
9	94617767	C	T	C94617767T	FBP1	NM_000507.4(FBP1):c.426+1G>A	noncoding	Pathogenic
9	94620215	G	A	G94620215A	FBP1	NM_000507.4(FBP1):c.333+114C>T	noncoding	Benign
9	94639184	T	A	T94639184A	FBP1	NM_000507.4(FBP1):c.127A>T:p.Lys43Ter	coding	Pathogenic
9	94639709	T	A	T94639709A	FBP1	NM_001127628.2(FBP1):c.-25+335A>T	noncoding	Benign
9	94639935	C	G	C94639935G	FBP1	NM_001127628.2(FBP1):c.-25+109G>C	noncoding	Benign
9	94639952	C	T	C94639952T	FBP1	NM_001127628.2(FBP1):c.-25+92G>A	noncoding	Benign
9	94640275	A	G	A94640275G	FBP1	Single_allele	noncoding	Benign
9	94640341	C	A	C94640341A	FBP1	Single_allele	noncoding	Benign
9	94760546	C	T	C94760546T	AOPEP	NM_001193329.3(AOPEP):c.763C>T:p.Arg255Ter	coding	Pathogenic
9	94760560	G	A	G94760560A	AOPEP	NM_001193329.3(AOPEP):c.777G>A:p.Trp259Ter	coding	Pathogenic
9	94924098	C	T	C94924098T	AOPEP	NM_001193329.3(AOPEP):c.1477C>T:p.Arg493Ter	coding	Pathogenic
9	95101868	G	A	G95101868A	FANCC	NM_000136.3(FANCC):c.1534-18C>T	noncoding	Benign/Likely_benign
9	95107053	C	T	C95107053T	FANCC	NM_000136.3(FANCC):c.1533+13G>A	noncoding	Benign/Likely_benign
9	95107069	G	A	G95107069A	FANCC	NM_000136.3(FANCC):c.1530C>T:p.Thr510=	coding	Benign/Likely_benign
9	95107082	C	T	C95107082T	FANCC	NM_000136.3(FANCC):c.1517G>A:p.Trp506Ter	coding	Pathogenic/Likely_pathogenic
9	95107109	C	T	C95107109T	FANCC	NM_000136.3(FANCC):c.1490G>A:p.Trp497Ter	coding	Pathogenic
9	95107182	G	A	G95107182A	FANCC	NM_000136.3(FANCC):c.1417C>T:p.Gln473Ter	coding	Pathogenic/Likely_pathogenic
9	95107410	A	G	A95107410G	FANCC	NM_000136.3(FANCC):c.1330-141T>C	noncoding	Benign
9	95111057	G	A	G95111057A	FANCC	NM_000136.3(FANCC):c.1329+406C>T	coding	Benign
9	95111153	G	A	G95111153A	FANCC	NM_000136.3(FANCC):c.1329+310C>T	coding	Benign
9	95111483	G	A	G95111483A	FANCC	NM_000136.3(FANCC):c.1309C>T:p.Gln437Ter	coding	Pathogenic/Likely_pathogenic
9	95111520	C	T	C95111520T	FANCC	NM_000136.3(FANCC):c.1272G>A:p.Trp424Ter	coding	Pathogenic
9	95111611	C	T	C95111611T	FANCC	NM_000136.3(FANCC):c.1181G>A:p.Trp394Ter	coding	Pathogenic
9	95114711	C	G	C95114711G	FANCC	NM_000136.3(FANCC):c.1073-1G>C	coding	Pathogenic/Likely_pathogenic
9	95125167	G	A	G95125167A	FANCC	NM_000136.3(FANCC):c.915C>T:p.Thr305=	coding	Benign/Likely_benign
9	95126448	C	T	C95126448T	FANCC	NM_000136.3(FANCC):c.896+81G>A	noncoding	Benign
9	95126543	A	G	A95126543G	FANCC	NM_000136.3(FANCC):c.882T>C:p.Val294=	coding	Benign/Likely_benign
9	95135345	C	A	C95135345A	FANCC	NM_000136.3(FANCC):c.843+1G>T	noncoding	Pathogenic/Likely_pathogenic
9	95135345	C	T	C95135345T	FANCC	NM_000136.3(FANCC):c.843+1G>A	noncoding	Pathogenic/Likely_pathogenic
9	95135350	G	T	G95135350T	FANCC	NM_000136.3(FANCC):c.839C>A:p.Ser280Ter	coding	Pathogenic
9	95135466	G	T	G95135466T	FANCC	NM_000136.3(FANCC):c.723C>A:p.Cys241Ter	coding	Pathogenic
9	95135790	G	A	G95135790A	FANCC	NM_000136.3(FANCC):c.687-288C>T	noncoding	Benign
9	95149893	G	A	G95149893A	FANCC	NM_000136.3(FANCC):c.686+30C>T	noncoding	Benign
9	95149963	G	A	G95149963A	FANCC	NM_000136.3(FANCC):c.646C>T:p.Gln216Ter	coding	Pathogenic
9	95150042	T	G	T95150042G	FANCC	NM_000136.3(FANCC):c.567A>C:p.Pro189=	coding	Benign/Likely_benign
9	95170970	T	C	T95170970C	FANCC	NM_000136.3(FANCC):c.521+109A>G	noncoding	Benign
9	95240735	G	A	G95240735A	FANCC	NM_000136.3(FANCC):c.259C>T:p.Gln87Ter	coding	Pathogenic
9	95247212	C	T	C95247212T	FANCC	NM_000136.3(FANCC):c.250+220G>A	noncoding	Benign
9	95247455	C	T	C95247455T	FANCC	NM_000136.3(FANCC):c.227G>A:p.Trp76Ter	coding	Pathogenic
9	95247518	T	C	T95247518C	FANCC	NM_000136.3(FANCC):c.166-2A>G	noncoding	Pathogenic/Likely_pathogenic
9	95247523	A	G	A95247523G	FANCC	NM_000136.3(FANCC):c.166-7T>C	noncoding	Benign/Likely_benign
9	95247525	G	C	G95247525C	FANCC	NM_000136.3(FANCC):c.166-9C>G	noncoding	Benign/Likely_benign
9	95249160	G	A	G95249160A	FANCC	NM_000136.3(FANCC):c.132C>T:p.Phe44=	coding	Benign/Likely_benign
9	95249222	G	A	G95249222A	FANCC	NM_000136.3(FANCC):c.70C>T:p.Gln24Ter	coding	Pathogenic
9	95249247	C	T	C95249247T	FANCC	NM_000136.3(FANCC):c.45G>A:p.Trp15Ter	coding	Pathogenic
9	95249289	C	A	C95249289A	FANCC	NM_000136.3(FANCC):c.3G>T:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
9	95249631	A	G	A95249631G	FANCC	NM_000136.3(FANCC):c.-78-262T>C	noncoding	Benign
9	95297574	T	G	T95297574G	FANCC	NM_000136.3(FANCC):c.-79+19952A>C	noncoding	Benign
9	95317310	T	C	T95317310C	FANCC	NM_000136.3(FANCC):c.-79+216A>G	noncoding	Benign
9	95317519	C	A	C95317519A	FANCC	NM_000136.3(FANCC):c.-79+7G>T	noncoding	Benign/Likely_benign
9	95317534	C	T	C95317534T	FANCC	NM_000136.3(FANCC):c.-87G>A	noncoding	Benign/Likely_benign
9	95446396	A	T	A95446396T	PTCH1	NM_000264.5(PTCH1):c.*2-5T>A	noncoding	Benign
9	95446874	T	C	T95446874C	PTCH1	NM_000264.5(PTCH1):c.*1+37A>G	noncoding	Benign
9	95447105	G	A	G95447105A	PTCH1	NM_000264.5(PTCH1):c.4151C>T:p.Pro1384Leu	coding	Benign/Likely_benign
9	95447116	G	A	G95447116A	PTCH1	NM_000264.5(PTCH1):c.4140C>T:p.Ala1380=	coding	Benign/Likely_benign
9	95447170	G	A	G95447170A	PTCH1	NM_000264.5(PTCH1):c.4086C>T:p.Pro1362=	coding	Benign/Likely_benign
9	95447303	G	A	G95447303A	PTCH1	NM_000264.5(PTCH1):c.3953C>T:p.Pro1318Leu	coding	Benign
9	95447348	C	T	C95447348T	PTCH1	NM_000264.5(PTCH1):c.3908G>A:p.Arg1303His	coding	Benign/Likely_benign
9	95447676	G	A	G95447676A	PTCH1	NM_000264.5(PTCH1):c.3805-225C>T	noncoding	Benign
9	95449081	G	A	G95449081A	PTCH1	NM_000264.5(PTCH1):c.3792C>T:p.Phe1264=	coding	Benign/Likely_benign
9	95449107	C	T	C95449107T	PTCH1	NM_000264.5(PTCH1):c.3766G>A:p.Val1256Met	coding	Benign/Likely_benign
9	95449268	G	A	G95449268A	PTCH1	NM_000264.5(PTCH1):c.3605C>T:p.Pro1202Leu	coding	Benign
9	95449839	A	C	A95449839C	PTCH1	NM_000264.5(PTCH1):c.3549+2T>G	noncoding	Pathogenic
9	95449859	G	A	G95449859A	PTCH1	NM_000264.5(PTCH1):c.3531C>T:p.Phe1177=	coding	Benign/Likely_benign
9	95449923	A	C	A95449923C	PTCH1	NM_000264.5(PTCH1):c.3467T>G:p.Leu1156Arg	coding	Pathogenic
9	95453477	C	T	C95453477T	PTCH1	NM_000264.5(PTCH1):c.3449+1G>A	noncoding	Pathogenic
9	95453533	A	G	A95453533G	PTCH1	NM_000264.5(PTCH1):c.3394T>C:p.Ser1132Pro	coding	Pathogenic
9	95453537	G	A	G95453537A	PTCH1	NM_000264.5(PTCH1):c.3390C>T:p.Ala1130=	coding	Benign/Likely_benign
9	95453552	G	A	G95453552A	PTCH1	NM_000264.5(PTCH1):c.3375C>T:p.Pro1125=	coding	Benign/Likely_benign
9	95453686	C	G	C95453686G	PTCH1	NM_000264.5(PTCH1):c.3307-66G>C	noncoding	Benign
9	95453772	C	T	C95453772T	PTCH1	NM_000264.5(PTCH1):c.3307-152G>A	noncoding	Benign
9	95456305	C	T	C95456305T	PTCH1	NM_000264.5(PTCH1):c.3277G>A:p.Gly1093Arg	coding	Pathogenic
9	95456386	C	A	C95456386A	PTCH1	NM_000264.5(PTCH1):c.3196G>T:p.Glu1066Ter	coding	Pathogenic
9	95456425	C	T	C95456425T	PTCH1	NM_000264.5(PTCH1):c.3169-12G>A	noncoding	Benign
9	95456430	A	T	A95456430T	PTCH1	NM_000264.5(PTCH1):c.3169-17T>A	noncoding	Benign/Likely_benign
9	95458008	C	T	C95458008T	PTCH1	NM_000264.5(PTCH1):c.3168+5G>A	noncoding	Pathogenic
9	95458012	C	A	C95458012A	PTCH1	NM_000264.5(PTCH1):c.3168+1G>T	noncoding	Pathogenic
9	95458123	G	A	G95458123A	PTCH1	NM_000264.5(PTCH1):c.3058C>T:p.Gln1020Ter	coding	Pathogenic
9	95458126	C	A	C95458126A	PTCH1	NM_000264.5(PTCH1):c.3055G>T:p.Glu1019Ter	coding	Pathogenic
9	95458128	C	T	C95458128T	PTCH1	NM_000264.5(PTCH1):c.3053G>A:p.Trp1018Ter	coding	Pathogenic
9	95458227	G	C	G95458227C	PTCH1	NM_000264.5(PTCH1):c.2954C>G:p.Ser985Ter	coding	Pathogenic
9	95458289	C	T	C95458289T	PTCH1	NM_000264.5(PTCH1):c.2892G>A:p.Pro964=	coding	Benign/Likely_benign
9	95458337	G	A	G95458337A	PTCH1	NM_000264.5(PTCH1):c.2888-44C>T	noncoding	Benign
9	95458564	C	T	C95458564T	PTCH1	NM_000264.5(PTCH1):c.2888-271G>A	noncoding	Benign
9	95459643	C	T	C95459643T	PTCH1	NM_000264.5(PTCH1):c.2844G>A:p.Trp948Ter	coding	Pathogenic
9	95459721	G	T	G95459721T	PTCH1	NM_000264.5(PTCH1):c.2766C>A:p.Tyr922Ter	coding	Pathogenic
9	95459774	G	A	G95459774A	PTCH1	NM_000264.5(PTCH1):c.2713C>T:p.Gln905Ter	coding	Pathogenic
9	95459852	G	T	G95459852T	PTCH1	NM_000264.5(PTCH1):c.2704-69C>A	noncoding	Benign
9	95461574	C	T	C95461574T	PTCH1	NM_000264.5(PTCH1):c.2703+282G>A	noncoding	Benign
9	95461854	A	T	A95461854T	PTCH1	NM_000264.5(PTCH1):c.2703+2T>A	noncoding	Pathogenic
9	95461867	C	T	C95461867T	PTCH1	NM_000264.5(PTCH1):c.2692G>A:p.Asp898Asn	coding	Benign/Likely_benign
9	95461969	C	A	C95461969A	PTCH1	NM_000264.5(PTCH1):c.2590G>T:p.Glu864Ter	coding	Pathogenic
9	95462005	A	G	A95462005G	PTCH1	NM_000264.5(PTCH1):c.2561-7T>C	noncoding	Benign
9	95462078	C	G	C95462078G	PTCH1	NM_000264.5(PTCH1):c.2561-80G>C	noncoding	Benign
9	95462205	G	C	G95462205C	PTCH1	NM_000264.5(PTCH1):c.2561-207C>G	noncoding	Benign
9	95463885	G	A	G95463885A	PTCH1	NM_000264.5(PTCH1):c.2561-1887C>T	noncoding	Benign
9	95467115	C	A	C95467115A	PTCH1	NM_000264.5(PTCH1):c.2560+1G>T	coding	Pathogenic
9	95467144	C	A	C95467144A	PTCH1	NM_000264.5(PTCH1):c.2532G>T:p.Trp844Cys	coding	Pathogenic
9	95467144	C	G	C95467144G	PTCH1	NM_000264.5(PTCH1):c.2532G>C:p.Trp844Cys	coding	Pathogenic
9	95467183	A	T	A95467183T	PTCH1	NM_000264.5(PTCH1):c.2493T>A:p.Tyr831Ter	coding	Pathogenic
9	95467191	C	T	C95467191T	PTCH1	NM_000264.5(PTCH1):c.2485G>A:p.Val829Met	coding	Benign/Likely_benign
9	95467406	A	G	A95467406G	PTCH1	NM_000264.5(PTCH1):c.2270T>C:p.Phe757Ser	coding	Benign/Likely_benign
9	95467427	T	C	T95467427C	PTCH1	NM_000264.5(PTCH1):c.2251-2A>G	coding	Pathogenic/Likely_pathogenic
9	95467427	T	G	T95467427G	PTCH1	NM_000264.5(PTCH1):c.2251-2A>C	coding	Pathogenic
9	95468789	T	A	T95468789A	PTCH1	NM_000264.5(PTCH1):c.2212A>T:p.Lys738Ter	coding	Pathogenic
9	95468861	G	A	G95468861A	PTCH1	NM_000264.5(PTCH1):c.2140C>T:p.Gln714Ter	coding	Pathogenic
9	95468894	C	A	C95468894A	PTCH1	NM_000264.5(PTCH1):c.2107G>T:p.Glu703Ter	coding	Pathogenic
9	95468928	G	A	G95468928A	PTCH1	NM_000264.5(PTCH1):c.2073C>T:p.Thr691=	coding	Benign/Likely_benign
9	95468951	C	T	C95468951T	PTCH1	NM_000264.5(PTCH1):c.2050G>A:p.Glu684Lys	coding	Benign/Likely_benign
9	95468973	G	T	G95468973T	PTCH1	NM_000264.5(PTCH1):c.2028C>A:p.Tyr676Ter	coding	Pathogenic
9	95469156	G	C	G95469156C	PTCH1	NM_000264.5(PTCH1):c.1848-3C>G	coding	Pathogenic
9	95469811	A	C	A95469811C	PTCH1	NM_000264.5(PTCH1):c.1847+2T>G	coding	Pathogenic
9	95476018	A	T	A95476018T	PTCH1	NM_000264.5(PTCH1):c.1728+16T>A	noncoding	Benign/Likely_benign
9	95476056	G	T	G95476056T	PTCH1	NM_000264.5(PTCH1):c.1706C>A:p.Ala569Asp	coding	Pathogenic
9	95476071	A	T	A95476071T	PTCH1	NM_000264.5(PTCH1):c.1691T>A:p.Leu564Ter	coding	Pathogenic
9	95476160	C	T	C95476160T	PTCH1	NM_000264.5(PTCH1):c.1603-1G>A	coding	Pathogenic
9	95476758	C	A	C95476758A	PTCH1	NM_000264.5(PTCH1):c.1602+1G>T	noncoding	Pathogenic
9	95476758	C	T	C95476758T	PTCH1	NM_000264.5(PTCH1):c.1602+1G>A	noncoding	Pathogenic
9	95476836	C	G	C95476836G	PTCH1	NM_000264.5(PTCH1):c.1525G>C:p.Gly509Arg	coding	Pathogenic
9	95476858	C	G	C95476858G	PTCH1	NM_000264.5(PTCH1):c.1504-1G>C	coding	Pathogenic/Likely_pathogenic
9	95476908	G	C	G95476908C	PTCH1	NM_000264.5(PTCH1):c.1504-51C>G	noncoding	Benign
9	95477600	C	T	C95477600T	PTCH1	NM_000264.5(PTCH1):c.1450G>A:p.Gly484Arg	coding	Pathogenic
9	95477700	G	A	G95477700A	PTCH1	NM_000264.5(PTCH1):c.1350C>T:p.Leu450=	coding	Benign/Likely_benign
9	95477706	C	T	C95477706T	PTCH1	NM_000264.5(PTCH1):c.1348-4G>A	noncoding	Benign/Likely_benign
9	95478064	G	T	G95478064T	PTCH1	NM_000264.5(PTCH1):c.1338C>A:p.Tyr446Ter	coding	Pathogenic
9	95478096	C	T	C95478096T	PTCH1	NM_000264.5(PTCH1):c.1306G>A:p.Asp436Asn	coding	Benign/Likely_benign
9	95478165	G	A	G95478165A	PTCH1	NM_000264.5(PTCH1):c.1237C>T:p.Gln413Ter	coding	Pathogenic
9	95478387	G	A	G95478387A	PTCH1	NM_000264.5(PTCH1):c.1216-201C>T	noncoding	Benign
9	95479042	T	C	T95479042C	PTCH1	NM_000264.5(PTCH1):c.1173A>G:p.Lys391=	coding	Benign/Likely_benign
9	95479055	C	T	C95479055T	PTCH1	NM_000264.5(PTCH1):c.1160G>A:p.Trp387Ter	coding	Pathogenic
9	95479095	C	A	C95479095A	PTCH1	NM_000264.5(PTCH1):c.1120G>T:p.Glu374Ter	coding	Pathogenic
9	95479096	G	C	G95479096C	PTCH1	NM_000264.5(PTCH1):c.1119C>G:p.Tyr373Ter	coding	Pathogenic
9	95479155	A	G	A95479155G	PTCH1	NM_000264.5(PTCH1):c.1068-8T>C	noncoding	Benign
9	95479862	C	T	C95479862T	PTCH1	NM_000264.5(PTCH1):c.1067+107G>A	noncoding	Benign
9	95479895	T	C	T95479895C	PTCH1	NM_000264.5(PTCH1):c.1067+74A>G	noncoding	Benign
9	95479968	C	A	C95479968A	PTCH1	NM_000264.5(PTCH1):c.1067+1G>T	noncoding	Pathogenic
9	95480020	T	C	T95480020C	PTCH1	NM_000264.5(PTCH1):c.1016A>G:p.Glu339Gly	coding	Benign
9	95480061	A	G	A95480061G	PTCH1	NM_000264.5(PTCH1):c.975T>C:p.Gly325=	coding	Benign/Likely_benign
9	95480103	G	A	G95480103A	PTCH1	NM_000264.5(PTCH1):c.946-13C>T	noncoding	Benign/Likely_benign
9	95480370	C	T	C95480370T	PTCH1	NM_000264.5(PTCH1):c.945+20G>A	noncoding	Benign/Likely_benign
9	95480423	G	T	G95480423T	PTCH1	NM_000264.5(PTCH1):c.912C>A:p.Cys304Ter	coding	Pathogenic
9	95480460	A	G	A95480460G	PTCH1	NM_000264.5(PTCH1):c.875T>C:p.Met292Thr	coding	Benign/Likely_benign
9	95480501	C	T	C95480501T	PTCH1	NM_000264.5(PTCH1):c.834G>A:p.Trp278Ter	coding	Pathogenic
9	95480502	C	T	C95480502T	PTCH1	NM_000264.5(PTCH1):c.833G>A:p.Trp278Ter	coding	Pathogenic
9	95480589	C	T	C95480589T	PTCH1	NM_000264.5(PTCH1):c.747-1G>A	coding	Pathogenic
9	95480643	A	G	A95480643G	PTCH1	NM_000264.5(PTCH1):c.747-55T>C	noncoding	Benign
9	95481947	A	C	A95481947C	PTCH1	NM_000264.5(PTCH1):c.746+2T>G	noncoding	Pathogenic
9	95481973	A	C	A95481973C	PTCH1	NM_000264.5(PTCH1):c.722T>G:p.Leu241Ter	coding	Pathogenic
9	95482133	C	T	C95482133T	PTCH1	NM_000264.5(PTCH1):c.654+1G>A	noncoding	Pathogenic
9	95482164	C	T	C95482164T	PTCH1	NM_000264.5(PTCH1):c.624G>A:p.Glu208=	coding	Benign/Likely_benign
9	95482175	T	A	T95482175A	PTCH1	NM_000264.5(PTCH1):c.613A>T:p.Lys205Ter	coding	Pathogenic
9	95482197	C	T	C95482197T	PTCH1	NM_000264.5(PTCH1):c.591G>A:p.Trp197Ter	coding	Pathogenic
9	95485671	G	A	G95485671A	PTCH1	NM_000264.5(PTCH1):c.584+14C>T	noncoding	Benign
9	95485685	C	T	C95485685T	PTCH1	NM_000264.5(PTCH1):c.584G>A:p.Arg195Lys	coding	Pathogenic
9	95485696	G	T	G95485696T	PTCH1	NM_000264.5(PTCH1):c.573C>A:p.Tyr191Ter	coding	Pathogenic
9	95485740	G	A	G95485740A	PTCH1	NM_000264.5(PTCH1):c.529C>T:p.Gln177Ter	coding	Pathogenic
9	95485803	G	A	G95485803A	PTCH1	NM_000264.5(PTCH1):c.466C>T:p.Gln156Ter	coding	Pathogenic
9	95485956	A	T	A95485956T	PTCH1	NM_000264.5(PTCH1):c.395-82T>A	noncoding	Benign
9	95506336	T	C	T95506336C	PTCH1	NM_000264.5(PTCH1):c.394+71A>G	noncoding	Benign
9	95506415	C	T	C95506415T	PTCH1	NM_000264.5(PTCH1):c.386G>A:p.Trp129Ter	coding	Pathogenic
9	95506422	C	A	C95506422A	PTCH1	NM_000264.5(PTCH1):c.379G>T:p.Glu127Ter	coding	Pathogenic
9	95506425	C	A	C95506425A	PTCH1	NM_000264.5(PTCH1):c.376G>T:p.Glu126Ter	coding	Pathogenic
9	95506452	T	A	T95506452A	PTCH1	NM_000264.5(PTCH1):c.349A>T:p.Lys117Ter	coding	Pathogenic
9	95506455	A	G	A95506455G	PTCH1	NM_000264.5(PTCH1):c.346T>C:p.Leu116=	coding	Benign/Likely_benign
9	95506504	G	A	G95506504A	PTCH1	NM_000264.5(PTCH1):c.297C>T:p.Gly99=	coding	Pathogenic/Likely_pathogenic
9	95506573	C	T	C95506573T	PTCH1	NM_000264.5(PTCH1):c.228G>A:p.Pro76=	coding	Benign/Likely_benign
9	95506600	C	G	C95506600G	PTCH1	NM_000264.5(PTCH1):c.202-1G>C	coding	Pathogenic
9	95507886	A	G	A95507886G	PTCH1	NM_000264.5(PTCH1):c.201+275T>C	noncoding	Benign
9	95507889	A	G	A95507889G	PTCH1	NM_000264.5(PTCH1):c.201+272T>C	noncoding	Benign
9	95508060	A	T	A95508060T	PTCH1	NM_000264.5(PTCH1):c.201+101T>A	noncoding	Benign
9	95508188	G	A	G95508188A	PTCH1	NM_000264.5(PTCH1):c.174C>T:p.Ala58=	coding	Benign/Likely_benign
9	95508239	A	G	A95508239G	PTCH1	NM_000264.5(PTCH1):c.123T>C:p.Arg41=	coding	Benign/Likely_benign
9	95516131	C	T	C95516131T	PTCH1	NM_001083603.3(PTCH1):c.198+492G>A	noncoding	Benign
9	95516362	C	A	C95516362A	PTCH1	NM_001083603.3(PTCH1):c.198+261G>T	noncoding	Benign
9	95876006	A	G	A95876006G	ERCC6L2	NM_020207.7(ERCC6L2):c.-33A>G	coding	Benign
9	95876024	C	T	C95876024T	ERCC6L2	NM_020207.7(ERCC6L2):c.-15C>T	coding	Benign
9	95876046	C	A	C95876046A	ERCC6L2	NM_020207.7(ERCC6L2):c.8C>A:p.Pro3Gln	coding	Benign
9	95876057	C	T	C95876057T	ERCC6L2	NM_020207.7(ERCC6L2):c.19C>T:p.Gln7Ter	coding	Pathogenic/Likely_pathogenic
9	95881304	A	G	A95881304G	ERCC6L2	NM_020207.7(ERCC6L2):c.471+11A>G	noncoding	Benign
9	95881309	A	T	A95881309T	ERCC6L2	NM_020207.7(ERCC6L2):c.471+16A>T	noncoding	Benign
9	95916209	C	G	C95916209G	ERCC6L2	NM_020207.7(ERCC6L2):c.951-18C>G	noncoding	Benign
9	95922325	A	G	A95922325G	ERCC6L2	NM_020207.7(ERCC6L2):c.1320A>G:p.Thr440=	coding	Benign
9	95922385	G	A	G95922385A	ERCC6L2	NM_020207.7(ERCC6L2):c.1380G>A:p.Ala460=	coding	Benign
9	95922436	C	T	C95922436T	ERCC6L2	NM_020207.7(ERCC6L2):c.1413+18C>T	noncoding	Benign
9	95922438	T	C	T95922438C	ERCC6L2	NM_020207.7(ERCC6L2):c.1413+20T>C	noncoding	Benign
9	95928727	C	T	C95928727T	ERCC6L2	NM_020207.7(ERCC6L2):c.1614C>T:p.Asp538=	coding	Benign
9	95928750	C	T	C95928750T	ERCC6L2	NM_020207.7(ERCC6L2):c.1637C>T:p.Ala546Val	coding	Benign
9	95928767	C	T	C95928767T	ERCC6L2	NM_020207.7(ERCC6L2):c.1654C>T:p.Arg552Ter	coding	Pathogenic
9	95928855	T	C	T95928855C	ERCC6L2	NM_020207.7(ERCC6L2):c.1742T>C:p.Val581Ala	coding	Benign
9	95966601	C	T	C95966601T	ERCC6L2	NM_020207.7(ERCC6L2):c.1987C>T:p.Arg663Ter	coding	Pathogenic
9	95970569	A	G	A95970569G	ERCC6L2	NM_020207.7(ERCC6L2):c.2101-7A>G	noncoding	Benign
9	95971987	C	G	C95971987G	ERCC6L2	NM_020207.7(ERCC6L2):c.2236C>G:p.Leu746Val	coding	Benign
9	95972237	C	T	C95972237T	ERCC6L2	NM_020207.7(ERCC6L2):c.2486C>T:p.Thr829Ile	coding	Benign
9	95972388	C	T	C95972388T	ERCC6L2	NM_020207.7(ERCC6L2):c.2637C>T:p.Asp879=	coding	Benign
9	95972562	A	G	A95972562G	ERCC6L2	NM_020207.7(ERCC6L2):c.2811A>G:p.Val937=	coding	Benign
9	95972609	A	T	A95972609T	ERCC6L2	NM_020207.7(ERCC6L2):c.2858A>T:p.Asn953Ile	coding	Benign
9	95972827	G	C	G95972827C	ERCC6L2	NM_020207.7(ERCC6L2):c.3076G>C:p.Val1026Leu	coding	Benign
9	95972944	A	G	A95972944G	ERCC6L2	NM_020207.7(ERCC6L2):c.3193A>G:p.Ile1065Val	coding	Benign
9	95978139	G	A	G95978139A	ERCC6L2	NM_020207.7(ERCC6L2):c.3416G>A:p.Arg1139Gln	coding	Benign
9	95978203	T	C	T95978203C	ERCC6L2	NM_020207.7(ERCC6L2):c.3480T>C:p.Val1160=	coding	Benign
9	96004579	G	T	G96004579T	ERCC6L2	NM_020207.7(ERCC6L2):c.3552G>T:p.Pro1184=	coding	Benign
9	96004620	C	A	C96004620A	ERCC6L2	NM_020207.7(ERCC6L2):c.3593C>A:p.Pro1198His	coding	Benign
9	96012468	A	G	A96012468G	ERCC6L2	NM_020207.7(ERCC6L2):c.3918A>G:p.Pro1306=	coding	Benign
9	96012844	A	G	A96012844G	ERCC6L2	NM_020207.7(ERCC6L2):c.4294A>G:p.Asn1432Asp	coding	Benign
9	96012953	T	C	T96012953C	ERCC6L2	NM_020207.7(ERCC6L2):c.4403T>C:p.Met1468Thr	coding	Benign
9	96013151	T	G	T96013151G	ERCC6L2	NM_020207.7(ERCC6L2):c.4601T>G:p.Phe1534Cys	coding	Benign
9	96013177	G	A	G96013177A	ERCC6L2	NM_020207.7(ERCC6L2):c.4627G>A:p.Ala1543Thr	coding	Benign
9	96240473	C	G	C96240473G	HSD17B3	NM_000197.2(HSD17B3):c.822+285G>C	noncoding	Benign
9	96240572	G	A	G96240572A	HSD17B3	NM_000197.2(HSD17B3):c.822+186C>T	noncoding	Benign
9	96240603	C	T	C96240603T	HSD17B3	NM_000197.2(HSD17B3):c.822+155G>A	noncoding	Benign
9	96240901	T	C	T96240901C	HSD17B3	NM_000197.2(HSD17B3):c.679A>G:p.Thr227Ala	coding	Pathogenic
9	96240982	C	T	C96240982T	HSD17B3	NM_000197.2(HSD17B3):c.673-75G>A	noncoding	Benign
9	96244417	C	G	C96244417G	HSD17B3	NM_000197.2(HSD17B3):c.607-23G>C	noncoding	Benign
9	96244442	G	A	G96244442A	HSD17B3	NM_000197.2(HSD17B3):c.607-48C>T	noncoding	Benign
9	96244607	T	C	T96244607C	HSD17B3	NM_000197.2(HSD17B3):c.607-213A>G	noncoding	Benign
9	96244675	C	T	C96244675T	HSD17B3	NM_000197.2(HSD17B3):c.607-281G>A	noncoding	Benign
9	96245625	G	A	G96245625A	HSD17B3	NM_000197.2(HSD17B3):c.525-199C>T	noncoding	Benign
9	96246276	T	G	T96246276G	HSD17B3	NM_000197.2(HSD17B3):c.524+280A>C	noncoding	Benign
9	96249995	C	T	C96249995T	HSD17B3	NM_000197.2(HSD17B3):c.454-209G>A	noncoding	Benign
9	96250070	C	T	C96250070T	HSD17B3	NM_000197.2(HSD17B3):c.454-284G>A	noncoding	Benign
9	96251334	C	T	C96251334T	HSD17B3	NM_000197.2(HSD17B3):c.453+84G>A	noncoding	Benign
9	96252977	C	T	C96252977T	HSD17B3	NM_000197.2(HSD17B3):c.278-67G>A	noncoding	Benign
9	96254614	A	C	A96254614C	HSD17B3	NM_000197.2(HSD17B3):c.277+254T>G	noncoding	Benign
9	96254638	C	G	C96254638G	HSD17B3	NM_000197.2(HSD17B3):c.277+230G>C	noncoding	Benign
9	96255130	G	C	G96255130C	HSD17B3	NM_000197.2(HSD17B3):c.202-187C>G	noncoding	Benign
9	96298299	C	T	C96298299T	HSD17B3	NM_000197.2(HSD17B3):c.201+117G>A	noncoding	Benign
9	96298330	T	C	T96298330C	HSD17B3	NM_000197.2(HSD17B3):c.201+86A>G	noncoding	Benign
9	96298378	A	G	A96298378G	HSD17B3	NM_000197.2(HSD17B3):c.201+38T>C	noncoding	Benign
9	96298600	G	A	G96298600A	HSD17B3	NM_000197.2(HSD17B3):c.155-138C>T	noncoding	Benign
9	97343500	C	G	C97343500G	CCDC180;SUGT1P4-STRA6LP-CCDC180	NM_020893.6(CCDC180):c.2435C>G:p.Ser812Cys	coding	Benign
9	97428841	T	C	T97428841C	TDRD7	NM_014290.3(TDRD7):c.207+169T>C	noncoding	Benign
9	97430704	T	C	T97430704C	TDRD7	NM_014290.3(TDRD7):c.208-229T>C	noncoding	Benign
9	97430719	A	G	A97430719G	TDRD7	NM_014290.3(TDRD7):c.208-214A>G	noncoding	Benign
9	97430831	T	C	T97430831C	TDRD7	NM_014290.3(TDRD7):c.208-102T>C	noncoding	Benign
9	97432371	A	G	A97432371G	TDRD7	NM_014290.3(TDRD7):c.563+133A>G	noncoding	Benign
9	97439078	A	G	A97439078G	TDRD7	NM_014290.3(TDRD7):c.564-167A>G	noncoding	Benign
9	97439382	G	A	G97439382A	TDRD7	NM_014290.3(TDRD7):c.637+64G>A	noncoding	Benign
9	97441426	G	T	G97441426T	TDRD7	NM_014290.3(TDRD7):c.638-232G>T	noncoding	Benign
9	97464700	G	A	G97464700A	TDRD7	NM_014290.3(TDRD7):c.1443-142G>A	noncoding	Benign
9	97464729	T	C	T97464729C	TDRD7	NM_014290.3(TDRD7):c.1443-113T>C	noncoding	Benign
9	97465141	G	A	G97465141A	TDRD7	NM_014290.3(TDRD7):c.1629+113G>A	noncoding	Benign
9	97470907	C	T	C97470907T	TDRD7	NM_014290.3(TDRD7):c.1741+238C>T	noncoding	Benign
9	97472119	T	G	T97472119G	TDRD7	NM_014290.3(TDRD7):c.1742-174T>G	noncoding	Benign
9	97472263	G	A	G97472263A	TDRD7	NM_014290.3(TDRD7):c.1742-30G>A	noncoding	Benign
9	97472753	A	T	A97472753T	TDRD7	NM_014290.3(TDRD7):c.1944+258A>T	noncoding	Benign
9	97473555	C	T	C97473555T	TDRD7	NM_014290.3(TDRD7):c.2008C>T:p.Gln670Ter	coding	Pathogenic
9	97482519	C	T	C97482519T	TDRD7	NM_014290.3(TDRD7):c.2413-330C>T	noncoding	Benign
9	97487641	G	A	G97487641A	TDRD7	NM_014290.3(TDRD7):c.3076+309G>A	noncoding	Benign
9	97684950	G	A	G97684950A	XPA	NM_000380.4(XPA):c.646C>T:p.Gln216Ter	coding	Pathogenic/Likely_pathogenic
9	97685028	A	C	A97685028C	XPA	NM_000380.4(XPA):c.568T>G:p.Ser190Ala	coding	Benign/Likely_benign
9	97687131	G	A	G97687131A	XPA	NM_000380.4(XPA):c.520C>T:p.Gln174Ter	coding	Pathogenic
9	97687215	G	A	G97687215A	XPA	NM_000380.4(XPA):c.436C>T:p.Gln146Ter	coding	Pathogenic
9	97687378	T	C	T97687378C	XPA	NM_000380.4(XPA):c.390-117A>G	noncoding	Benign
9	97689274	A	C	A97689274C	XPA	NM_000380.4(XPA):c.389+260T>G	noncoding	Benign
9	97689608	G	T	G97689608T	XPA	NM_000380.4(XPA):c.315C>A:p.Cys105Ter	coding	Pathogenic
9	97689859	T	G	T97689859G	XPA	NM_000380.4(XPA):c.284-220A>C	noncoding	Benign
9	97693679	G	A	G97693679A	XPA	NM_000380.4(XPA):c.253C>T:p.Gln85Ter	coding	Pathogenic
9	97696917	A	C	A97696917C	XPA	NM_000380.4(XPA):c.172+204T>G	noncoding	Benign
9	97697027	C	G	C97697027G	XPA	NM_000380.4(XPA):c.172+94G>C	noncoding	Benign
9	97853077	C	T	C97853077T	FOXE1	NR_147055.1(PTCSC2):n.4G>A	noncoding	Benign
9	97853271	A	G	A97853271G	FOXE1	NM_004473.4(FOXE1):c.-644A>G	noncoding	Benign
9	97853378	G	C	G97853378C	FOXE1	NM_004473.4(FOXE1):c.-537G>C	noncoding	Benign
9	97853632	A	G	A97853632G	FOXE1	NM_004473.4(FOXE1):c.-283A>G	noncoding	Benign
9	97853667	C	A	C97853667A	FOXE1	NM_004473.4(FOXE1):c.-248C>A	noncoding	Benign
9	97853759	T	C	T97853759C	FOXE1	NM_004473.4(FOXE1):c.-156T>C	noncoding	Benign
9	97853784	G	C	G97853784C	FOXE1	NM_004473.4(FOXE1):c.-131G>C	noncoding	Benign
9	97854430	C	A	C97854430A	FOXE1	NM_004473.4(FOXE1):c.516C>A:p.Ala172=	coding	Benign
9	97854628	C	T	C97854628T	FOXE1	NM_004473.4(FOXE1):c.714C>T:p.Pro238=	coding	Benign
9	97855093	T	C	T97855093C	FOXE1	NM_004473.4(FOXE1):c.*57T>C	noncoding	Benign
9	97855151	A	C	A97855151C	FOXE1	NM_004473.4(FOXE1):c.*115A>C	noncoding	Benign
9	97855197	G	T	G97855197T	FOXE1	NM_004473.4(FOXE1):c.*161G>T	noncoding	Benign
9	97855301	T	C	T97855301C	FOXE1	NM_004473.4(FOXE1):c.*265T>C	noncoding	Benign
9	97983620	A	G	A97983620G	ANP32B	NM_006401.3(ANP32B):c.54+11A>G	noncoding	Benign
9	98056438	C	T	C98056438T	NANS	Single_allele	noncoding	Benign
9	98056788	T	G	T98056788G	NANS	NM_018946.4(NANS):c.-21T>G	noncoding	Benign
9	98056910	C	T	C98056910T	NANS	NM_018946.4(NANS):c.102C>T:p.Asp34=	coding	Benign
9	98060558	T	A	T98060558A	NANS	NM_018946.4(NANS):c.133-224T>A	noncoding	Benign
9	98060770	T	A	T98060770A	NANS	NM_018946.4(NANS):c.133-12T>A	noncoding	Pathogenic
9	98060802	T	C	T98060802C	NANS	NM_018946.4(NANS):c.153T>C:p.Ala51=	coding	Benign
9	98060853	G	C	G98060853C	NANS	NM_018946.4(NANS):c.204G>C:p.Glu68Asp	coding	Benign
9	98061078	C	A	C98061078A	NANS	NM_018946.4(NANS):c.348+81C>A	noncoding	Benign
9	98081135	A	G	A98081135G	NANS	NM_018946.4(NANS):c.870+53A>G	noncoding	Benign
9	98081378	C	A	C98081378A	NANS	NM_018946.4(NANS):c.870+296C>A	noncoding	Benign
9	98082725	A	G	A98082725G	NANS	NM_018946.4(NANS):c.871-121A>G	noncoding	Benign
9	98290274	T	G	T98290274G	GABBR2	NM_005458.8(GABBR2):c.*310A>C	noncoding	Benign
9	98290277	T	G	T98290277G	GABBR2	NM_005458.8(GABBR2):c.*307A>C	noncoding	Benign
9	98290279	T	G	T98290279G	GABBR2	NM_005458.8(GABBR2):c.*305A>C	noncoding	Benign
9	98290284	T	G	T98290284G	GABBR2	NM_005458.8(GABBR2):c.*300A>C	noncoding	Benign
9	98290576	T	C	T98290576C	GABBR2	NM_005458.8(GABBR2):c.*8A>G	noncoding	Benign
9	98290577	C	T	C98290577T	GABBR2	NM_005458.8(GABBR2):c.*7G>A	noncoding	Benign
9	98290643	C	T	C98290643T	GABBR2	NM_005458.8(GABBR2):c.2767G>A:p.Ala923Thr	coding	Benign
9	98290655	C	T	C98290655T	GABBR2	NM_005458.8(GABBR2):c.2755G>A:p.Val919Ile	coding	Benign
9	98290683	G	A	G98290683A	GABBR2	NM_005458.8(GABBR2):c.2727C>T:p.Gly909=	coding	Benign
9	98290762	A	G	A98290762G	GABBR2	NM_005458.8(GABBR2):c.2661-13T>C	noncoding	Benign
9	98290769	G	A	G98290769A	GABBR2	NM_005458.8(GABBR2):c.2661-20C>T	noncoding	Benign/Likely_benign
9	98290794	C	G	C98290794G	GABBR2	NM_005458.8(GABBR2):c.2661-45G>C	noncoding	Benign
9	98290805	A	G	A98290805G	GABBR2	NM_005458.8(GABBR2):c.2661-56T>C	noncoding	Benign
9	98290841	G	A	G98290841A	GABBR2	NM_005458.8(GABBR2):c.2661-92C>T	noncoding	Benign
9	98293727	T	G	T98293727G	GABBR2	NM_005458.8(GABBR2):c.2660+58A>C	noncoding	Benign
9	98293762	A	G	A98293762G	GABBR2	NM_005458.8(GABBR2):c.2660+23T>C	noncoding	Benign
9	98293840	T	C	T98293840C	GABBR2	NM_005458.8(GABBR2):c.2605A>G:p.Thr869Ala	coding	Benign
9	98299220	T	C	T98299220C	GABBR2	NM_005458.8(GABBR2):c.2542+4A>G	noncoding	Benign/Likely_benign
9	98299357	C	G	C98299357G	GABBR2	NM_005458.8(GABBR2):c.2413-4G>C	noncoding	Benign
9	98299367	G	A	G98299367A	GABBR2	NM_005458.8(GABBR2):c.2413-14C>T	noncoding	Benign
9	98299374	T	C	T98299374C	GABBR2	NM_005458.8(GABBR2):c.2413-21A>G	noncoding	Benign
9	98299383	G	C	G98299383C	GABBR2	NM_005458.8(GABBR2):c.2413-30C>G	noncoding	Benign
9	98299523	G	A	G98299523A	GABBR2	NM_005458.8(GABBR2):c.2413-170C>T	noncoding	Benign
9	98299669	A	C	A98299669C	GABBR2	NM_005458.8(GABBR2):c.2413-316T>G	noncoding	Benign
9	98303037	G	A	G98303037A	GABBR2	NM_005458.8(GABBR2):c.2412+204C>T	noncoding	Benign
9	98303222	C	T	C98303222T	GABBR2	NM_005458.8(GABBR2):c.2412+19G>A	noncoding	Benign
9	98303325	C	T	C98303325T	GABBR2	NM_005458.8(GABBR2):c.2328G>A:p.Ser776=	coding	Benign
9	98303335	G	A	G98303335A	GABBR2	NM_005458.8(GABBR2):c.2318C>T:p.Thr773Met	coding	Benign/Likely_benign
9	98303446	G	A	G98303446A	GABBR2	NM_005458.8(GABBR2):c.2230-23C>T	noncoding	Benign
9	98303525	T	C	T98303525C	GABBR2	NM_005458.8(GABBR2):c.2230-102A>G	noncoding	Benign
9	98303620	C	T	C98303620T	GABBR2	NM_005458.8(GABBR2):c.2230-197G>A	noncoding	Benign
9	98305979	C	T	C98305979T	GABBR2	NM_005458.8(GABBR2):c.2229+142G>A	noncoding	Benign
9	98306124	C	T	C98306124T	GABBR2	NM_005458.8(GABBR2):c.2226G>A:p.Pro742=	coding	Benign
9	98306298	G	A	G98306298A	GABBR2	NM_005458.8(GABBR2):c.2052C>T:p.Pro684=	coding	Benign
9	98306367	G	A	G98306367A	GABBR2	NM_005458.8(GABBR2):c.2005-22C>T	noncoding	Benign
9	98306685	T	G	T98306685G	GABBR2	NM_005458.8(GABBR2):c.2005-340A>C	noncoding	Benign
9	98311055	A	T	A98311055T	GABBR2	NM_005458.8(GABBR2):c.2004+40T>A	noncoding	Benign
9	98311110	G	A	G98311110A	GABBR2	NM_005458.8(GABBR2):c.1989C>T:p.Tyr663=	coding	Benign
9	98311122	G	A	G98311122A	GABBR2	NM_005458.8(GABBR2):c.1977C>T:p.Ile659=	coding	Benign/Likely_benign
9	98311169	G	C	G98311169C	GABBR2	NM_005458.8(GABBR2):c.1930C>G:p.Leu644Val	coding	Benign
9	98311178	T	C	T98311178C	GABBR2	NM_005458.8(GABBR2):c.1921A>G:p.Ile641Val	coding	Benign/Likely_benign
9	98362465	C	T	C98362465T	GABBR2	NM_005458.8(GABBR2):c.1893+250G>A	noncoding	Benign
9	98362866	C	T	C98362866T	GABBR2	NM_005458.8(GABBR2):c.1771-29G>A	noncoding	Benign
9	98363096	G	A	G98363096A	GABBR2	NM_005458.8(GABBR2):c.1771-259C>T	noncoding	Benign
9	98363123	C	T	C98363123T	GABBR2	NM_005458.8(GABBR2):c.1771-286G>A	noncoding	Benign
9	98363151	T	C	T98363151C	GABBR2	NM_005458.8(GABBR2):c.1771-314A>G	noncoding	Benign
9	98371236	C	T	C98371236T	GABBR2	NM_005458.8(GABBR2):c.1770+228G>A	noncoding	Benign
9	98371263	C	T	C98371263T	GABBR2	NM_005458.8(GABBR2):c.1770+201G>A	noncoding	Benign
9	98371289	C	T	C98371289T	GABBR2	NM_005458.8(GABBR2):c.1770+175G>A	noncoding	Benign
9	98371435	A	G	A98371435G	GABBR2	NM_005458.8(GABBR2):c.1770+29T>C	noncoding	Benign
9	98371452	G	T	G98371452T	GABBR2	NM_005458.8(GABBR2):c.1770+12C>A	noncoding	Benign
9	98371458	G	A	G98371458A	GABBR2	NM_005458.8(GABBR2):c.1770+6C>T	noncoding	Benign
9	98371467	C	T	C98371467T	GABBR2	NM_005458.8(GABBR2):c.1767G>A:p.Lys589=	coding	Benign/Likely_benign
9	98371534	G	A	G98371534A	GABBR2	NM_005458.8(GABBR2):c.1700C>T:p.Ala567Val	coding	Pathogenic
9	98371649	G	A	G98371649A	GABBR2	NM_005458.8(GABBR2):c.1663-78C>T	noncoding	Benign
9	98371905	C	T	C98371905T	GABBR2	NM_005458.8(GABBR2):c.1663-334G>A	noncoding	Benign
9	98385529	G	C	G98385529C	GABBR2	NM_005458.8(GABBR2):c.1662+111C>G	noncoding	Benign
9	98385640	G	A	G98385640A	GABBR2	NM_005458.8(GABBR2):c.1662C>T:p.Thr554=	coding	Benign/Likely_benign
9	98385661	C	G	C98385661G	GABBR2	NM_005458.8(GABBR2):c.1641G>C:p.Lys547Asn	coding	Benign
9	98385903	C	T	C98385903T	GABBR2	NM_005458.8(GABBR2):c.1530-131G>A	noncoding	Benign
9	98386091	C	T	C98386091T	GABBR2	NM_005458.8(GABBR2):c.1530-319G>A	noncoding	Benign
9	98388658	T	C	T98388658C	GABBR2	NM_005458.8(GABBR2):c.1529+196A>G	noncoding	Benign
9	98388677	A	G	A98388677G	GABBR2	NM_005458.8(GABBR2):c.1529+177T>C	noncoding	Benign
9	98388808	G	A	G98388808A	GABBR2	NM_005458.8(GABBR2):c.1529+46C>T	noncoding	Benign
9	98389025	A	T	A98389025T	GABBR2	NM_005458.8(GABBR2):c.1379-21T>A	noncoding	Benign
9	98389100	C	T	C98389100T	GABBR2	NM_005458.8(GABBR2):c.1379-96G>A	noncoding	Benign
9	98394136	T	G	T98394136G	GABBR2	NM_005458.8(GABBR2):c.1378+39A>C	noncoding	Benign
9	98394159	A	G	A98394159G	GABBR2	NM_005458.8(GABBR2):c.1378+16T>C	noncoding	Benign
9	98394249	C	T	C98394249T	GABBR2	NM_005458.8(GABBR2):c.1304G>A:p.Arg435Lys	coding	Benign
9	98394518	A	G	A98394518G	GABBR2	NM_005458.8(GABBR2):c.1298-263T>C	noncoding	Benign
9	98406295	A	G	A98406295G	GABBR2	NM_005458.8(GABBR2):c.1237-154T>C	noncoding	Benign
9	98406355	A	G	A98406355G	GABBR2	NM_005458.8(GABBR2):c.1237-214T>C	noncoding	Benign
9	98406378	T	C	T98406378C	GABBR2	NM_005458.8(GABBR2):c.1237-237A>G	noncoding	Benign
9	98453895	T	C	T98453895C	GABBR2	NM_005458.8(GABBR2):c.1236+86A>G	noncoding	Benign
9	98454005	G	A	G98454005A	GABBR2	NM_005458.8(GABBR2):c.1212C>T:p.Asn404=	coding	Benign/Likely_benign
9	98454044	C	T	C98454044T	GABBR2	NM_005458.8(GABBR2):c.1173G>A:p.Thr391=	coding	Benign
9	98454045	G	A	G98454045A	GABBR2	NM_005458.8(GABBR2):c.1172C>T:p.Thr391Met	coding	Benign
9	98454340	A	G	A98454340G	GABBR2	NM_005458.8(GABBR2):c.1000-123T>C	noncoding	Benign
9	98454435	C	T	C98454435T	GABBR2	NM_005458.8(GABBR2):c.1000-218G>A	noncoding	Benign
9	98472863	A	T	A98472863T	GABBR2	NM_005458.8(GABBR2):c.999+283T>A	noncoding	Benign
9	98473041	T	C	T98473041C	GABBR2	NM_005458.8(GABBR2):c.999+105A>G	noncoding	Benign
9	98473073	T	C	T98473073C	GABBR2	NM_005458.8(GABBR2):c.999+73A>G	noncoding	Benign
9	98473197	G	A	G98473197A	GABBR2	NM_005458.8(GABBR2):c.948C>T:p.Gly316=	coding	Benign
9	98473251	G	A	G98473251A	GABBR2	NM_005458.8(GABBR2):c.894C>T:p.Asn298=	coding	Benign/Likely_benign
9	98473263	G	A	G98473263A	GABBR2	NM_005458.8(GABBR2):c.882C>T:p.His294=	coding	Benign
9	98473299	C	T	C98473299T	GABBR2	NM_005458.8(GABBR2):c.846G>A:p.Pro282=	coding	Benign
9	98473337	C	T	C98473337T	GABBR2	NM_005458.8(GABBR2):c.808G>A:p.Glu270Lys	coding	Benign
9	98473510	T	A	T98473510A	GABBR2	NM_005458.8(GABBR2):c.799-164A>T	noncoding	Benign
9	98480739	T	C	T98480739C	GABBR2	NM_005458.8(GABBR2):c.798+193A>G	noncoding	Benign
9	98480888	G	A	G98480888A	GABBR2	NM_005458.8(GABBR2):c.798+44C>T	noncoding	Benign
9	98481082	T	G	T98481082G	GABBR2	NM_005458.8(GABBR2):c.733-85A>C	noncoding	Benign
9	98496193	T	C	T98496193C	GABBR2	NM_005458.8(GABBR2):c.732+220A>G	noncoding	Benign
9	98496429	C	T	C98496429T	GABBR2	NM_005458.8(GABBR2):c.716G>A:p.Ser239Asn	coding	Benign
9	98496482	G	A	G98496482A	GABBR2	NM_005458.8(GABBR2):c.663C>T:p.Gly221=	coding	Benign/Likely_benign
9	98496521	G	A	G98496521A	GABBR2	NM_005458.8(GABBR2):c.631-7C>T	noncoding	Benign
9	98496549	T	G	T98496549G	GABBR2	NM_005458.8(GABBR2):c.631-35A>C	noncoding	Benign
9	98496574	C	T	C98496574T	GABBR2	NM_005458.8(GABBR2):c.631-60G>A	noncoding	Benign
9	98496599	T	C	T98496599C	GABBR2	NM_005458.8(GABBR2):c.631-85A>G	noncoding	Benign
9	98496674	C	T	C98496674T	GABBR2	NM_005458.8(GABBR2):c.631-160G>A	noncoding	Benign
9	98496699	C	T	C98496699T	GABBR2	NM_005458.8(GABBR2):c.631-185G>A	noncoding	Benign
9	98541904	G	A	G98541904A	GABBR2	NM_005458.8(GABBR2):c.599C>T:p.Thr200Met	coding	Benign
9	98542066	C	T	C98542066T	GABBR2	NM_005458.8(GABBR2):c.460-23G>A	noncoding	Benign
9	98577626	C	G	C98577626G	GABBR2	NM_005458.8(GABBR2):c.459+309G>C	noncoding	Benign
9	98577665	G	A	G98577665A	GABBR2	NM_005458.8(GABBR2):c.459+270C>T	noncoding	Benign
9	98577722	T	C	T98577722C	GABBR2	NM_005458.8(GABBR2):c.459+213A>G	noncoding	Benign
9	98577788	T	A	T98577788A	GABBR2	NM_005458.8(GABBR2):c.459+147A>T	noncoding	Benign
9	98577884	G	C	G98577884C	GABBR2	NM_005458.8(GABBR2):c.459+51C>G	noncoding	Benign
9	98577995	G	A	G98577995A	GABBR2	NM_005458.8(GABBR2):c.399C>T:p.Gly133=	coding	Benign
9	98578019	A	C	A98578019C	GABBR2	NM_005458.8(GABBR2):c.375T>G:p.Pro125=	coding	Benign
9	98578034	T	C	T98578034C	GABBR2	NM_005458.8(GABBR2):c.360A>G:p.Ala120=	coding	Benign
9	98578055	C	A	C98578055A	GABBR2	NM_005458.8(GABBR2):c.339G>T:p.Gly113=	coding	Benign
9	98578064	G	A	G98578064A	GABBR2	NM_005458.8(GABBR2):c.330C>T:p.Asn110=	coding	Benign/Likely_benign
9	98578086	C	T	C98578086T	GABBR2	NM_005458.8(GABBR2):c.322-14G>A	noncoding	Benign
9	98578143	A	G	A98578143G	GABBR2	NM_005458.8(GABBR2):c.322-71T>C	noncoding	Benign
9	98578158	A	G	A98578158G	GABBR2	NM_005458.8(GABBR2):c.322-86T>C	noncoding	Benign
9	98708366	C	A	C98708366A	GABBR2	NM_005458.8(GABBR2):c.321+51G>T	noncoding	Benign
9	98708687	T	C	T98708687C	GABBR2	NM_005458.8(GABBR2):c.51A>G:p.Pro17=	coding	Benign/Likely_benign
9	98709401	C	T	C98709401T	GABBR2	Single_allele	noncoding	Benign
9	98736282	C	G	C98736282G	ANKS6	NM_173551.5(ANKS6):c.*237G>C	noncoding	Benign
9	98736327	T	C	T98736327C	ANKS6	NM_173551.5(ANKS6):c.*192A>G	noncoding	Benign
9	98736479	G	A	G98736479A	ANKS6	NM_173551.5(ANKS6):c.*40C>T	noncoding	Benign
9	98750782	G	C	G98750782C	ANKS6	NM_173551.5(ANKS6):c.2394+247C>G	noncoding	Benign
9	98756160	C	T	C98756160T	ANKS6	NM_173551.5(ANKS6):c.2326+260G>A	noncoding	Benign
9	98756395	G	T	G98756395T	ANKS6	NM_173551.5(ANKS6):c.2326+25C>A	noncoding	Benign
9	98768253	G	C	G98768253C	ANKS6	NM_173551.5(ANKS6):c.1973-3C>G	noncoding	Pathogenic/Likely_pathogenic
9	98771047	C	T	C98771047T	ANKS6	NM_173551.5(ANKS6):c.1822-1G>A	coding	Pathogenic
9	98771243	A	G	A98771243G	ANKS6	NM_173551.5(ANKS6):c.1822-197T>C	noncoding	Benign
9	98771261	T	C	T98771261C	ANKS6	NM_173551.5(ANKS6):c.1822-215A>G	noncoding	Benign
9	98777319	G	A	G98777319A	ANKS6	NM_173551.5(ANKS6):c.1617+86C>T	noncoding	Benign
9	98777583	G	C	G98777583C	ANKS6	NM_173551.5(ANKS6):c.1568-129C>G	noncoding	Benign
9	98780598	T	C	T98780598C	ANKS6	NM_173551.5(ANKS6):c.1220-261A>G	noncoding	Benign
9	98782345	A	G	A98782345G	ANKS6	NM_173551.5(ANKS6):c.1219+122T>C	noncoding	Benign
9	98783935	C	T	C98783935T	ANKS6	NM_173551.5(ANKS6):c.1112+18G>A	noncoding	Benign/Likely_benign
9	98784128	C	T	C98784128T	ANKS6	NM_173551.5(ANKS6):c.937G>A:p.Asp313Asn	coding	Benign
9	98784296	G	C	G98784296C	ANKS6	NM_173551.5(ANKS6):c.908-139C>G	noncoding	Benign
9	98784830	A	T	A98784830T	ANKS6	NM_173551.5(ANKS6):c.907+2T>A	noncoding	Pathogenic
9	98785129	T	C	T98785129C	ANKS6	NM_173551.5(ANKS6):c.863-253A>G	noncoding	Benign
9	98789814	G	A	G98789814A	ANKS6	NM_173551.5(ANKS6):c.862+290C>T	noncoding	Benign
9	98790673	T	C	T98790673C	ANKS6	NM_173551.5(ANKS6):c.360-67A>G	noncoding	Benign
9	98790732	G	T	G98790732T	ANKS6	NM_173551.5(ANKS6):c.360-126C>A	noncoding	Benign
9	98795954	T	C	T98795954C	ANKS6	NM_173551.5(ANKS6):c.359+179A>G	noncoding	Benign
9	98796492	C	T	C98796492T	ANKS6	NM_173551.5(ANKS6):c.-1G>A	coding	Benign
9	98796495	C	A	C98796495A	ANKS6	NM_173551.5(ANKS6):c.-4G>T	noncoding	Benign
9	98823162	G	C	G98823162C	GALNT12	NM_024642.5(GALNT12):c.372-94G>C	noncoding	Benign
9	98823242	C	T	C98823242T	GALNT12	NM_024642.5(GALNT12):c.372-14C>T	noncoding	Benign
9	98823499	G	T	G98823499T	GALNT12	NM_024642.5(GALNT12):c.541+74G>T	noncoding	Benign
9	98823549	C	T	C98823549T	GALNT12	NM_024642.5(GALNT12):c.541+124C>T	noncoding	Benign
9	98823710	G	A	G98823710A	GALNT12	NM_024642.5(GALNT12):c.541+285G>A	noncoding	Benign
9	98826448	T	G	T98826448G	GALNT12	NM_024642.5(GALNT12):c.542-304T>G	noncoding	Benign
9	98826889	C	G	C98826889G	GALNT12	NM_024642.5(GALNT12):c.679C>G:p.Leu227Val	coding	Benign/Likely_benign
9	98826929	C	T	C98826929T	GALNT12	NM_024642.5(GALNT12):c.719C>T:p.Pro240Leu	coding	Benign/Likely_benign
9	98831543	T	C	T98831543C	GALNT12	NM_024642.5(GALNT12):c.732-229T>C	noncoding	Benign
9	98831601	T	G	T98831601G	GALNT12	NM_024642.5(GALNT12):c.732-171T>G	noncoding	Benign
9	98831981	C	T	C98831981T	GALNT12	NM_024642.5(GALNT12):c.917+24C>T	noncoding	Benign
9	98834986	A	C	A98834986C	GALNT12	NM_024642.5(GALNT12):c.918-263A>C	noncoding	Benign
9	98836768	A	G	A98836768G	GALNT12	NM_024642.5(GALNT12):c.1036-204A>G	noncoding	Benign
9	98837276	A	T	A98837276T	GALNT12	NM_024642.5(GALNT12):c.1212+128A>T	noncoding	Benign
9	98837326	C	G	C98837326G	GALNT12	NM_024642.5(GALNT12):c.1212+178C>G	noncoding	Benign
9	98839889	C	G	C98839889G	GALNT12	NM_024642.5(GALNT12):c.1213-113C>G	noncoding	Benign
9	98840194	G	T	G98840194T	GALNT12	NM_024642.5(GALNT12):c.1344+61G>T	noncoding	Benign
9	98844267	G	T	G98844267T	GALNT12	NM_024642.5(GALNT12):c.1458+58G>T	noncoding	Benign
9	98844398	C	T	C98844398T	GALNT12	NM_024642.5(GALNT12):c.1458+189C>T	noncoding	Benign
9	98845650	T	A	T98845650A	GALNT12	NM_024642.5(GALNT12):c.1459-327T>A	noncoding	Benign
9	98845743	C	A	C98845743A	GALNT12	NM_024642.5(GALNT12):c.1459-234C>A	noncoding	Benign
9	98845761	G	A	G98845761A	GALNT12	NM_024642.5(GALNT12):c.1459-216G>A	noncoding	Benign
9	98845872	T	A	T98845872A	GALNT12	NM_024642.5(GALNT12):c.1459-105T>A	noncoding	Benign
9	98849159	A	T	A98849159T	GALNT12	NM_024642.5(GALNT12):c.*67A>T	noncoding	Benign
9	98849263	A	G	A98849263G	GALNT12	NM_024642.5(GALNT12):c.*171A>G	noncoding	Benign
9	99105173	C	T	C99105173T	TGFBR1	NM_004612.4(TGFBR1):c.-33C>T	noncoding	Benign
9	99128698	A	G	A99128698G	TGFBR1	NM_004612.4(TGFBR1):c.98-157A>G	noncoding	Benign
9	99128987	T	G	T99128987G	TGFBR1	NM_004612.4(TGFBR1):c.230T>G:p.Leu77Ter	coding	Pathogenic
9	99132438	G	A	G99132438A	TGFBR1	NM_004612.4(TGFBR1):c.344-71G>A	noncoding	Benign/Likely_benign
9	99137984	T	C	T99137984C	TGFBR1	NM_004612.4(TGFBR1):c.700T>C:p.Phe234Leu	coding	Pathogenic/Likely_pathogenic
9	99138041	A	G	A99138041G	TGFBR1	NM_004612.4(TGFBR1):c.757A>G:p.Met253Val	coding	Pathogenic/Likely_pathogenic
9	99142674	A	G	A99142674G	TGFBR1	NM_004612.4(TGFBR1):c.944A>G:p.His315Arg	coding	Pathogenic
9	99144763	A	T	A99144763T	TGFBR1	NM_004612.4(TGFBR1):c.1005A>T:p.Lys335Asn	coding	Pathogenic
9	99147471	A	T	A99147471T	TGFBR1	NM_004612.4(TGFBR1):c.1256-183A>T	noncoding	Benign
9	99151015	G	A	G99151015A	TGFBR1	NM_004612.4(TGFBR1):c.*1710G>A	noncoding	Benign/Likely_benign
9	99218433	C	A	C99218433A	ALG2	NM_033087.4(ALG2):c.752G>T:p.Arg251Leu	coding	Pathogenic
9	99218795	C	T	C99218795T	ALG2	NM_033087.4(ALG2):c.390G>A:p.Arg130=	coding	Benign
9	99218853	T	C	T99218853C	ALG2	NM_033087.4(ALG2):c.349-17A>G	noncoding	Benign/Likely_benign
9	99222654	C	G	C99222654G	SEC61B	NM_006808.3(SEC61B):c.101+11C>G	noncoding	Benign
9	99227663	A	G	A99227663G	SEC61B	NM_006808.3(SEC61B):c.102-236A>G	noncoding	Benign
9	99227771	A	G	A99227771G	SEC61B	NM_006808.3(SEC61B):c.102-128A>G	noncoding	Benign
9	99228061	A	G	A99228061G	SEC61B	NM_006808.3(SEC61B):c.203+61A>G	noncoding	Benign
9	100126595	C	T	C100126595T	INVS	NM_014425.5(INVS):c.273+46C>T	noncoding	Benign/Likely_benign
9	100225746	A	T	A100225746T	INVS	NM_014425.5(INVS):c.274-316A>T	noncoding	Benign
9	100225952	G	A	G100225952A	INVS	NM_014425.5(INVS):c.274-110G>A	noncoding	Benign
9	100230048	C	T	C100230048T	INVS	NM_014425.5(INVS):c.615+221C>T	noncoding	Benign
9	100230054	C	T	C100230054T	INVS	NM_014425.5(INVS):c.615+227C>T	noncoding	Benign
9	100230119	A	G	A100230119G	INVS	NM_014425.5(INVS):c.615+292A>G	noncoding	Benign
9	100240197	T	G	T100240197G	INVS	NM_014425.5(INVS):c.753T>G:p.Tyr251Ter	coding	Pathogenic
9	100242264	T	C	T100242264C	INVS	NM_014425.5(INVS):c.797-306T>C	noncoding	Benign
9	100252390	C	T	C100252390T	INVS	NM_014425.5(INVS):c.1186C>T:p.Arg396Ter	coding	Pathogenic
9	100252736	C	T	C100252736T	INVS	NM_014425.5(INVS):c.1235-171C>T	noncoding	Benign
9	100264841	G	A	G100264841A	INVS	NM_014425.5(INVS):c.1484G>A:p.Trp495Ter	coding	Pathogenic
9	100284324	C	T	C100284324T	INVS	NM_014425.5(INVS):c.1789C>T:p.Arg597Ter	coding	Pathogenic/Likely_pathogenic
9	100284889	T	C	T100284889C	INVS	NM_014425.5(INVS):c.2068+286T>C	noncoding	Benign
9	100292839	G	C	G100292839C	INVS	NM_014425.5(INVS):c.2582G>C:p.Arg861Thr	coding	Benign
9	100296649	C	T	C100296649T	INVS	NM_014425.5(INVS):c.2787-268C>T	noncoding	Benign
9	100298104	T	G	T100298104G	INVS	NM_014425.5(INVS):c.3091+94T>G	noncoding	Benign
9	100578796	G	A	G100578796A	CAVIN4	NM_001018116.2(CAVIN4):c.408+245G>A	noncoding	Benign
9	101362529	C	T	C101362529T	BAAT	NM_001701.4(BAAT):c.1156G>A:p.Gly386Arg	coding	Pathogenic
9	101368056	C	T	C101368056T	BAAT	NM_001701.4(BAAT):c.669+64G>A	noncoding	Benign
9	101371155	G	T	G101371155T	BAAT	NM_001701.4(BAAT):c.250C>A:p.Pro84Thr	coding	Pathogenic
9	101371199	T	A	T101371199A	BAAT	NM_001701.4(BAAT):c.206A>T:p.Asp69Val	coding	Pathogenic
9	101371347	G	A	G101371347A	BAAT	NM_001701.4(BAAT):c.58C>T:p.Arg20Ter	coding	Pathogenic
9	101421905	C	A	C101421905A	ALDOB	NM_000035.4(ALDOB):c.1000-1G>T	coding	Pathogenic
9	101424738	C	T	C101424738T	ALDOB	NM_000035.4(ALDOB):c.999+105G>A	noncoding	Benign
9	101424759	A	G	A101424759G	ALDOB	NM_000035.4(ALDOB):c.999+84T>C	noncoding	Benign
9	101425030	A	G	A101425030G	ALDOB	NM_000035.4(ALDOB):c.812T>C:p.Leu271Ser	coding	Pathogenic
9	101425118	A	G	A101425118G	ALDOB	NM_000035.4(ALDOB):c.800-76T>C	noncoding	Benign
9	101425482	A	G	A101425482G	ALDOB	NM_000035.4(ALDOB):c.770T>C:p.Leu257Pro	coding	Pathogenic
9	101426572	G	A	G101426572A	ALDOB	NM_000035.4(ALDOB):c.607C>T:p.Gln203Ter	coding	Pathogenic
9	101427398	T	G	T101427398G	ALDOB	NM_000035.4(ALDOB):c.540+84A>C	noncoding	Benign
9	101427619	A	G	A101427619G	ALDOB	NM_000035.4(ALDOB):c.403T>C:p.Cys135Arg	coding	Pathogenic
9	101428517	G	A	G101428517A	ALDOB	NM_000035.4(ALDOB):c.331C>T:p.Gln111Ter	coding	Pathogenic
9	101428524	C	A	C101428524A	ALDOB	NM_000035.4(ALDOB):c.325-1G>T	coding	Pathogenic
9	101429824	G	C	G101429824C	ALDOB	NM_000035.4(ALDOB):c.255C>G:p.Tyr85Ter	coding	Pathogenic
9	101430570	T	C	T101430570C	ALDOB	NM_000035.4(ALDOB):c.112+206A>G	noncoding	Benign
9	101430827	G	A	G101430827A	ALDOB	NM_000035.4(ALDOB):c.61C>T:p.Gln21Ter	coding	Pathogenic
9	101430854	G	A	G101430854A	ALDOB	NM_000035.4(ALDOB):c.34C>T:p.Gln12Ter	coding	Pathogenic
9	101431106	T	C	T101431106C	ALDOB	NM_000035.4(ALDOB):c.-10-209A>G	noncoding	Benign
9	101435495	C	T	C101435495T	ALDOB	NM_000035.4(ALDOB):c.-11+214G>A	noncoding	Benign
9	104784620	A	G	A104784620G	ABCA1	NM_005502.4(ABCA1):c.6646-165T>C	noncoding	Benign
9	104785341	C	G	C104785341G	ABCA1	NM_005502.4(ABCA1):c.6645+55G>C	noncoding	Benign
9	104785443	G	A	G104785443A	ABCA1	NM_005502.4(ABCA1):c.6598C>T:p.Arg2200Ter	coding	Pathogenic
9	104785486	A	C	A104785486C	ABCA1	NM_005502.4(ABCA1):c.6555T>G:p.Ser2185=	coding	Benign/Likely_benign
9	104786094	C	A	C104786094A	ABCA1	NM_005502.4(ABCA1):c.6401+204G>T	noncoding	Benign
9	104786181	T	C	T104786181C	ABCA1	NM_005502.4(ABCA1):c.6401+117A>G	noncoding	Benign
9	104786212	G	T	G104786212T	ABCA1	NM_005502.4(ABCA1):c.6401+86C>A	noncoding	Benign
9	104786537	A	G	A104786537G	ABCA1	NM_005502.4(ABCA1):c.6309-147T>C	noncoding	Benign
9	104787010	G	A	G104787010A	ABCA1	NM_005502.4(ABCA1):c.6205-34C>T	noncoding	Benign
9	104788358	A	G	A104788358G	ABCA1	NM_005502.4(ABCA1):c.6069+68T>C	noncoding	Benign
9	104788402	C	G	C104788402G	ABCA1	NM_005502.4(ABCA1):c.6069+24G>C	noncoding	Benign
9	104788477	G	A	G104788477A	ABCA1	NM_005502.4(ABCA1):c.6018C>T:p.His2006=	coding	Benign/Likely_benign
9	104790643	A	G	A104790643G	ABCA1	NM_005502.4(ABCA1):c.5927+279T>C	noncoding	Benign
9	104790658	A	G	A104790658G	ABCA1	NM_005502.4(ABCA1):c.5927+264T>C	noncoding	Benign
9	104790760	T	C	T104790760C	ABCA1	NM_005502.4(ABCA1):c.5927+162A>G	noncoding	Benign
9	104791197	A	T	A104791197T	ABCA1	NM_005502.4(ABCA1):c.5821-169T>A	noncoding	Benign
9	104791243	A	G	A104791243G	ABCA1	NM_005502.4(ABCA1):c.5821-215T>C	noncoding	Benign
9	104791788	C	T	C104791788T	ABCA1	NM_005502.4(ABCA1):c.5820+148G>A	noncoding	Benign
9	104792135	G	A	G104792135A	ABCA1	NM_005502.4(ABCA1):c.5758-137C>T	noncoding	Benign
9	104792240	T	C	T104792240C	ABCA1	NM_005502.4(ABCA1):c.5758-242A>G	noncoding	Benign
9	104792253	T	C	T104792253C	ABCA1	NM_005502.4(ABCA1):c.5758-255A>G	noncoding	Benign
9	104792547	T	G	T104792547G	ABCA1	NM_005502.4(ABCA1):c.5757+239A>C	noncoding	Benign
9	104792796	T	G	T104792796G	ABCA1	NM_005502.4(ABCA1):c.5747A>C:p.Glu1916Ala	coding	Benign/Likely_benign
9	104793025	G	A	G104793025A	ABCA1	NM_005502.4(ABCA1):c.5637-119C>T	noncoding	Benign
9	104793153	T	G	T104793153G	ABCA1	NM_005502.4(ABCA1):c.5636+18A>C	noncoding	Benign
9	104793256	G	A	G104793256A	ABCA1	NM_005502.4(ABCA1):c.5551C>T:p.Arg1851Ter	coding	Pathogenic
9	104793325	G	A	G104793325A	ABCA1	NM_005502.4(ABCA1):c.5507-25C>T	noncoding	Benign
9	104793430	C	G	C104793430G	ABCA1	NM_005502.4(ABCA1):c.5507-130G>C	noncoding	Benign
9	104794135	G	A	G104794135A	ABCA1	NM_005502.4(ABCA1):c.5506+252C>T	noncoding	Benign
9	104794136	C	A	C104794136A	ABCA1	NM_005502.4(ABCA1):c.5506+251G>T	noncoding	Benign
9	104794444	G	A	G104794444A	ABCA1	NM_005502.4(ABCA1):c.5449C>T:p.Arg1817Ter	coding	Pathogenic
9	104794677	T	G	T104794677G	ABCA1	NM_005502.4(ABCA1):c.5383-167A>C	noncoding	Benign
9	104795968	A	G	A104795968G	ABCA1	NM_005502.4(ABCA1):c.5382+85T>C	noncoding	Benign
9	104796485	A	G	A104796485G	ABCA1	NM_005502.4(ABCA1):c.5122-61T>C	noncoding	Benign
9	104796656	C	A	C104796656A	ABCA1	NM_005502.4(ABCA1):c.5122-232G>T	noncoding	Benign
9	104796702	C	A	C104796702A	ABCA1	NM_005502.4(ABCA1):c.5122-278G>T	noncoding	Benign
9	104798143	G	C	G104798143C	ABCA1	NM_005502.4(ABCA1):c.5121+278C>G	noncoding	Benign
9	104798173	T	C	T104798173C	ABCA1	NM_005502.4(ABCA1):c.5121+248A>G	noncoding	Benign
9	104798366	A	G	A104798366G	ABCA1	NM_005502.4(ABCA1):c.5121+55T>C	noncoding	Benign
9	104798564	A	G	A104798564G	ABCA1	NM_005502.4(ABCA1):c.4978T>C:p.Cys1660Arg	coding	Pathogenic
9	104800005	C	T	C104800005T	ABCA1	NM_005502.4(ABCA1):c.4774-17G>A	noncoding	Benign
9	104800276	G	A	G104800276A	ABCA1	NM_005502.4(ABCA1):c.4773+234C>T	noncoding	Benign
9	104802185	C	G	C104802185G	ABCA1	NM_005502.4(ABCA1):c.4593-26G>C	noncoding	Benign
9	104802395	T	C	T104802395C	ABCA1	NM_005502.4(ABCA1):c.4593-236A>G	noncoding	Benign
9	104804596	C	A	C104804596A	ABCA1	NM_005502.4(ABCA1):c.4559+30G>T	noncoding	Benign
9	104809743	G	A	G104809743A	ABCA1	NM_005502.4(ABCA1):c.4176-179C>T	noncoding	Benign
9	104809838	T	G	T104809838G	ABCA1	NM_005502.4(ABCA1):c.4176-274A>C	noncoding	Benign
9	104810820	G	A	G104810820A	ABCA1	NM_005502.4(ABCA1):c.4155C>T:p.Asn1385=	coding	Benign/Likely_benign
9	104813000	G	T	G104813000T	ABCA1	NM_005502.4(ABCA1):c.3902-278C>A	noncoding	Benign
9	104813965	G	A	G104813965A	ABCA1	NM_005502.4(ABCA1):c.3901+153C>T	noncoding	Benign
9	104814375	A	G	A104814375G	ABCA1	NM_005502.4(ABCA1):c.3787+52T>C	noncoding	Benign
9	104814541	G	A	G104814541A	ABCA1	NM_005502.4(ABCA1):c.3739-66C>T	noncoding	Benign
9	104816020	T	C	T104816020C	ABCA1	NM_005502.4(ABCA1):c.3738+123A>G	noncoding	Benign
9	104816120	C	T	C104816120T	ABCA1	NM_005502.4(ABCA1):c.3738+23G>A	noncoding	Benign
9	104817183	G	A	G104817183A	ABCA1	NM_005502.4(ABCA1):c.3535+149C>T	noncoding	Benign
9	104817352	T	C	T104817352C	ABCA1	NM_005502.4(ABCA1):c.3515A>G:p.Glu1172Gly	coding	Benign/Likely_benign
9	104818561	T	C	T104818561C	ABCA1	NM_005502.4(ABCA1):c.3462+102A>G	noncoding	Benign
9	104819026	C	T	C104819026T	ABCA1	NM_005502.4(ABCA1):c.3242-143G>A	noncoding	Benign
9	104819142	G	A	G104819142A	ABCA1	NM_005502.4(ABCA1):c.3242-259C>T	noncoding	Benign
9	104819468	A	C	A104819468C	ABCA1	NM_005502.4(ABCA1):c.3241+118T>G	noncoding	Benign
9	104821249	T	G	T104821249G	ABCA1	NM_005502.4(ABCA1):c.2960+126A>C	noncoding	Benign
9	104821750	C	T	C104821750T	ABCA1	NM_005502.4(ABCA1):c.2829-244G>A	noncoding	Benign
9	104822719	G	C	G104822719C	ABCA1	NM_005502.4(ABCA1):c.2657-52C>G	noncoding	Benign
9	104822735	G	C	G104822735C	ABCA1	NM_005502.4(ABCA1):c.2657-68C>G	noncoding	Benign
9	104822932	C	T	C104822932T	ABCA1	NM_005502.4(ABCA1):c.2657-265G>A	noncoding	Benign
9	104824519	C	T	C104824519T	ABCA1	NM_005502.4(ABCA1):c.2602G>A:p.Glu868Lys	coding	Benign/Likely_benign
9	104825753	C	T	C104825753T	ABCA1	NM_005502.4(ABCA1):c.2472G>A:p.Ser824=	coding	Benign/Likely_benign
9	104826047	G	A	G104826047A	ABCA1	NM_005502.4(ABCA1):c.2338-160C>T	noncoding	Benign
9	104826712	C	T	C104826712T	ABCA1	NM_005502.4(ABCA1):c.2337+236G>A	noncoding	Benign
9	104826793	G	T	G104826793T	ABCA1	NM_005502.4(ABCA1):c.2337+155C>A	noncoding	Benign
9	104826853	A	T	A104826853T	ABCA1	NM_005502.4(ABCA1):c.2337+95T>A	noncoding	Benign
9	104827286	C	T	C104827286T	ABCA1	NM_005502.4(ABCA1):c.2116-117G>A	noncoding	Benign
9	104827299	A	T	A104827299T	ABCA1	NM_005502.4(ABCA1):c.2116-130T>A	noncoding	Benign
9	104827349	C	T	C104827349T	ABCA1	NM_005502.4(ABCA1):c.2116-180G>A	noncoding	Benign
9	104827429	C	T	C104827429T	ABCA1	NM_005502.4(ABCA1):c.2116-260G>A	noncoding	Benign
9	104828676	G	A	G104828676A	ABCA1	NM_005502.4(ABCA1):c.2115+240C>T	noncoding	Benign
9	104828743	C	T	C104828743T	ABCA1	NM_005502.4(ABCA1):c.2115+173G>A	noncoding	Benign
9	104828801	G	T	G104828801T	ABCA1	NM_005502.4(ABCA1):c.2115+115C>A	noncoding	Benign
9	104828835	T	C	T104828835C	ABCA1	NM_005502.4(ABCA1):c.2115+81A>G	noncoding	Benign
9	104829118	C	T	C104829118T	ABCA1	NM_005502.4(ABCA1):c.1913G>A:p.Arg638Gln	coding	Benign/Likely_benign
9	104829197	G	A	G104829197A	ABCA1	NM_005502.4(ABCA1):c.1893-59C>T	noncoding	Benign
9	104830696	A	T	A104830696T	ABCA1	NM_005502.4(ABCA1):c.1892+229T>A	noncoding	Benign
9	104830721	T	C	T104830721C	ABCA1	NM_005502.4(ABCA1):c.1892+204A>G	noncoding	Benign
9	104830901	A	T	A104830901T	ABCA1	NM_005502.4(ABCA1):c.1892+24T>A	noncoding	Benign
9	104831149	T	A	T104831149A	ABCA1	NM_005502.4(ABCA1):c.1716-48A>T	noncoding	Benign
9	104831339	T	C	T104831339C	ABCA1	NM_005502.4(ABCA1):c.1716-238A>G	noncoding	Benign
9	104831406	T	C	T104831406C	ABCA1	NM_005502.4(ABCA1):c.1715+216A>G	noncoding	Benign
9	104832005	T	C	T104832005C	ABCA1	NM_005502.4(ABCA1):c.1510-178A>G	noncoding	Benign
9	104832083	A	G	A104832083G	ABCA1	NM_005502.4(ABCA1):c.1510-256T>C	noncoding	Benign
9	104832417	G	A	G104832417A	ABCA1	NM_005502.4(ABCA1):c.1509+157C>T	noncoding	Benign
9	104832597	G	A	G104832597A	ABCA1	NM_005502.4(ABCA1):c.1486C>T:p.Arg496Trp	coding	Benign/Likely_benign
9	104832929	G	A	G104832929A	ABCA1	NM_005502.4(ABCA1):c.1312-158C>T	noncoding	Benign
9	104837200	T	C	T104837200C	ABCA1	NM_005502.4(ABCA1):c.1195-104A>G	noncoding	Benign
9	104837656	T	C	T104837656C	ABCA1	NM_005502.4(ABCA1):c.1055-89A>G	noncoding	Benign
9	104840061	T	G	T104840061G	ABCA1	NM_005502.4(ABCA1):c.1054+218A>C	noncoding	Benign
9	104840762	G	A	G104840762A	ABCA1	NM_005502.4(ABCA1):c.814-243C>T	noncoding	Benign
9	104845548	G	C	G104845548C	ABCA1	NM_005502.4(ABCA1):c.742C>G:p.Pro248Ala	coding	Benign
9	104858859	A	C	A104858859C	ABCA1	NM_005502.4(ABCA1):c.544-161T>G	noncoding	Benign
9	104861469	T	G	T104861469G	ABCA1	NM_005502.4(ABCA1):c.543+210A>C	noncoding	Benign
9	104861526	G	C	G104861526C	ABCA1	NM_005502.4(ABCA1):c.543+153C>G	noncoding	Benign
9	104861961	A	G	A104861961G	ABCA1	NM_005502.4(ABCA1):c.422-161T>C	noncoding	Benign
9	104882799	C	T	C104882799T	ABCA1	NM_005502.4(ABCA1):c.421+240G>A	noncoding	Benign
9	104882929	C	T	C104882929T	ABCA1	NM_005502.4(ABCA1):c.421+110G>A	noncoding	Benign
9	104882963	A	C	A104882963C	ABCA1	NM_005502.4(ABCA1):c.421+76T>G	noncoding	Benign
9	104883196	G	T	G104883196T	ABCA1	NM_005502.4(ABCA1):c.303-39C>A	noncoding	Benign
9	104883393	T	C	T104883393C	ABCA1	NM_005502.4(ABCA1):c.303-236A>G	noncoding	Benign
9	104884738	C	T	C104884738T	ABCA1	NM_005502.4(ABCA1):c.161-170G>A	noncoding	Benign
9	104884796	G	A	G104884796A	ABCA1	NM_005502.4(ABCA1):c.161-228C>T	noncoding	Benign
9	104884825	C	T	C104884825T	ABCA1	NM_005502.4(ABCA1):c.161-257G>A	noncoding	Benign
9	104884840	A	G	A104884840G	ABCA1	NM_005502.4(ABCA1):c.161-272T>C	noncoding	Benign
9	104886238	T	C	T104886238C	ABCA1	NM_005502.4(ABCA1):c.161-1670A>G	noncoding	Benign
9	104888893	T	C	T104888893C	ABCA1	NM_005502.4(ABCA1):c.160+209A>G	noncoding	Benign
9	104888931	T	C	T104888931C	ABCA1	NM_005502.4(ABCA1):c.160+171A>G	noncoding	Benign
9	104888951	T	C	T104888951C	ABCA1	NM_005502.4(ABCA1):c.160+151A>G	noncoding	Benign
9	104889067	T	C	T104889067C	ABCA1	NM_005502.4(ABCA1):c.160+35A>G	noncoding	Benign
9	104889245	A	G	A104889245G	ABCA1	NM_005502.4(ABCA1):c.67-50T>C	noncoding	Benign
9	104889253	C	T	C104889253T	ABCA1	NM_005502.4(ABCA1):c.67-58G>A	noncoding	Benign
9	104900213	G	A	G104900213A	ABCA1	NM_005502.4(ABCA1):c.66+3401C>T	noncoding	Benign
9	104903458	G	A	G104903458A	ABCA1	NM_005502.4(ABCA1):c.66+156C>T	noncoding	Benign
9	104903470	C	T	C104903470T	ABCA1	NM_005502.4(ABCA1):c.66+144G>A	noncoding	Benign
9	104903605	C	A	C104903605A	ABCA1	NM_005502.4(ABCA1):c.66+9G>T	noncoding	Benign/Likely_benign
9	104903664	G	A	G104903664A	ABCA1	NM_005502.4(ABCA1):c.16C>T:p.Gln6Ter	coding	Pathogenic
9	104927843	A	G	A104927843G	ABCA1	NM_005502.4(ABCA1):c.-93+92T>C	noncoding	Benign
9	105362973	C	G	C105362973G	SLC44A1	NM_080546.5(SLC44A1):c.1053C>G:p.Tyr351Ter	coding	Pathogenic
9	105471926	A	G	A105471926G	FSD1L	NM_001145313.3(FSD1L):c.362A>G:p.Asn121Ser	coding	Benign
9	105472013	A	G	A105472013G	FSD1L	NM_001145313.3(FSD1L):c.441+8A>G	coding	Benign
9	105573677	G	C	G105573677C	FKTN	NM_001079802.2(FKTN):c.-158G>C	noncoding	Benign/Likely_benign
9	105573789	T	C	T105573789C	FKTN	NM_001079802.2(FKTN):c.-89+43T>C	noncoding	Benign
9	105573867	T	C	T105573867C	FKTN	NM_001079802.2(FKTN):c.-89+121T>C	noncoding	Benign
9	105575110	C	G	C105575110G	FKTN	NM_001079802.2(FKTN):c.78C>G:p.Tyr26Ter	coding	Pathogenic
9	105575125	T	A	T105575125A	FKTN	NM_001079802.2(FKTN):c.93T>A:p.Tyr31Ter	coding	Pathogenic
9	105601339	G	A	G105601339A	FKTN	NM_001079802.2(FKTN):c.360G>A:p.Trp120Ter	coding	Pathogenic/Likely_pathogenic
9	105604251	C	T	C105604251T	FKTN	NM_001079802.2(FKTN):c.406C>T:p.Gln136Ter	coding	Pathogenic
9	105606481	T	C	T105606481C	FKTN	NM_001079802.2(FKTN):c.648-1338T>C	noncoding	Benign
9	105607927	T	A	T105607927A	FKTN	NM_001079802.2(FKTN):c.756T>A:p.Tyr252Ter	coding	Pathogenic/Likely_pathogenic
9	105615283	C	A	C105615283A	FKTN	NM_001079802.2(FKTN):c.786C>A:p.Tyr262Ter	coding	Pathogenic
9	105615420	C	T	C105615420T	FKTN	NM_001079802.2(FKTN):c.910+13C>T	noncoding	Benign/Likely_benign
9	105617962	G	A	G105617962A	FKTN	NM_001079802.2(FKTN):c.914G>A:p.Trp305Ter	coding	Pathogenic
9	105617990	T	G	T105617990G	FKTN	NM_001079802.2(FKTN):c.942T>G:p.Tyr314Ter	coding	Pathogenic
9	105694295	A	G	A105694295G	TMEM38B	Single_allele	noncoding	Benign
9	105694305	A	G	A105694305G	TMEM38B	Single_allele	noncoding	Benign
9	105694445	G	C	G105694445C	TMEM38B	Single_allele	noncoding	Benign
9	105694607	A	C	A105694607C	TMEM38B	NM_018112.3(TMEM38B):c.-54A>C	noncoding	Benign
9	105705276	G	A	G105705276A	TMEM38B	NM_018112.3(TMEM38B):c.113-321G>A	noncoding	Benign
9	105705569	C	G	C105705569G	TMEM38B	NM_018112.3(TMEM38B):c.113-28C>G	noncoding	Benign
9	105705767	A	G	A105705767G	TMEM38B	NM_018112.3(TMEM38B):c.269+14A>G	noncoding	Benign
9	105721460	G	A	G105721460A	TMEM38B	NM_018112.3(TMEM38B):c.270-77G>A	noncoding	Benign
9	105722572	G	C	G105722572C	TMEM38B	NM_018112.3(TMEM38B):c.493G>C:p.Val165Leu	coding	Benign
9	105722586	G	A	G105722586A	TMEM38B	NM_018112.3(TMEM38B):c.507G>A:p.Trp169Ter	coding	Pathogenic
9	105773954	G	A	G105773954A	TMEM38B	NM_018112.3(TMEM38B):c.750G>A:p.Pro250=	coding	Benign/Likely_benign
9	105774107	A	C	A105774107C	TMEM38B	NM_018112.3(TMEM38B):c.*27A>C	noncoding	Benign
9	105774115	T	A	T105774115A	TMEM38B	NM_018112.3(TMEM38B):c.*35T>A	noncoding	Benign
9	106860520	T	G	T106860520G	ZNF462	Single_allele	noncoding	Benign
9	106923604	G	A	G106923604A	ZNF462	NM_021224.6(ZNF462):c.220+1G>A	coding	Pathogenic
9	106925007	T	C	T106925007C	ZNF462	NM_021224.6(ZNF462):c.1095T>C:p.Tyr365=	coding	Benign
9	106925122	A	G	A106925122G	ZNF462	NM_021224.6(ZNF462):c.1210A>G:p.Met404Val	coding	Benign
9	106926201	A	G	A106926201G	ZNF462	NM_021224.6(ZNF462):c.2289A>G:p.Arg763_Asp764=	coding	Benign
9	106927471	C	T	C106927471T	ZNF462	NM_021224.6(ZNF462):c.3559C>T:p.Pro1187Ser	coding	Benign
9	106927561	C	T	C106927561T	ZNF462	NM_021224.6(ZNF462):c.3649C>T:p.Arg1217Ter	coding	Pathogenic
9	106927578	T	C	T106927578C	ZNF462	NM_021224.6(ZNF462):c.3666T>C:p.Asn1222=	coding	Benign
9	106927612	C	T	C106927612T	ZNF462	NM_021224.6(ZNF462):c.3700C>T:p.Arg1234Ter	coding	Pathogenic
9	106929118	A	G	A106929118G	ZNF462	NM_021224.6(ZNF462):c.5206A>G:p.Ile1736Val	coding	Benign
9	106929395	A	G	A106929395G	ZNF462	NM_021224.6(ZNF462):c.5483A>G:p.Asn1828Ser	coding	Benign
9	106930651	C	T	C106930651T	ZNF462	NM_021224.6(ZNF462):c.5974C>T:p.Gln1992Ter	coding	Pathogenic
9	106932303	T	C	T106932303C	ZNF462	NM_021224.6(ZNF462):c.6013-143T>C	noncoding	Benign
9	107010864	A	T	A107010864T	ZNF462	NM_021224.6(ZNF462):c.7355A>T:p.His2452Leu	coding	Benign
9	108877977	G	A	G108877977A	ELP1	NM_003640.5(ELP1):c.3855+18C>T	noncoding	Benign
9	108878028	C	T	C108878028T	ELP1	NM_003640.5(ELP1):c.3822G>A:p.Trp1274Ter	coding	Pathogenic
9	108878635	C	A	C108878635A	ELP1	NM_003640.5(ELP1):c.3688G>T:p.Glu1230Ter	coding	Pathogenic
9	108878728	T	A	T108878728A	ELP1	NM_003640.5(ELP1):c.3595A>T:p.Lys1199Ter	coding	Pathogenic
9	108880088	G	A	G108880088A	ELP1	NM_003640.5(ELP1):c.3424C>T:p.Arg1142Ter	coding	Pathogenic
9	108880255	T	C	T108880255C	ELP1	NM_003640.5(ELP1):c.3347-90A>G	noncoding	Benign
9	108880346	T	C	T108880346C	ELP1	NM_003640.5(ELP1):c.3347-181A>G	noncoding	Benign
9	108880422	T	C	T108880422C	ELP1	NM_003640.5(ELP1):c.3347-257A>G	noncoding	Benign
9	108881708	C	A	C108881708A	ELP1	NM_003640.5(ELP1):c.3343G>T:p.Glu1115Ter	coding	Pathogenic/Likely_pathogenic
9	108881760	G	C	G108881760C	ELP1	NM_003640.5(ELP1):c.3291C>G:p.Tyr1097Ter	coding	Pathogenic
9	108881963	A	G	A108881963G	ELP1	NM_003640.5(ELP1):c.3285+162T>C	noncoding	Benign
9	108882259	C	T	C108882259T	ELP1	NM_003640.5(ELP1):c.3223-72G>A	noncoding	Benign
9	108893944	A	T	A108893944T	ELP1	NM_003640.5(ELP1):c.2859T>A:p.Cys953Ter	coding	Pathogenic
9	108896283	T	C	T108896283C	ELP1	NM_003640.5(ELP1):c.2736+213A>G	noncoding	Benign
9	108896590	A	T	A108896590T	ELP1	NM_003640.5(ELP1):c.2642T>A:p.Leu881Ter	coding	Pathogenic
9	108896764	T	C	T108896764C	ELP1	NM_003640.5(ELP1):c.2588-120A>G	noncoding	Benign
9	108896997	G	T	G108896997T	ELP1	NM_003640.5(ELP1):c.2543C>A:p.Thr848Asn	coding	Benign/Likely_benign
9	108897318	C	T	C108897318T	ELP1	NM_003640.5(ELP1):c.2364-33G>A	noncoding	Benign
9	108898599	A	G	A108898599G	ELP1	NM_003640.5(ELP1):c.2284-18T>C	noncoding	Benign
9	108898645	G	C	G108898645C	ELP1	NM_003640.5(ELP1):c.2283+26C>G	noncoding	Benign
9	108898847	G	C	G108898847C	ELP1	NM_003640.5(ELP1):c.2205-98C>G	noncoding	Benign
9	108898904	T	C	T108898904C	ELP1	NM_003640.5(ELP1):c.2205-155A>G	noncoding	Benign
9	108899748	T	C	T108899748C	ELP1	NM_003640.5(ELP1):c.2204+74A>G	noncoding	Benign
9	108899804	C	G	C108899804G	ELP1	NM_003640.5(ELP1):c.2204+18G>C	noncoding	Benign/Likely_benign
9	108900127	A	G	A108900127G	ELP1	NM_003640.5(ELP1):c.2130+133T>C	noncoding	Benign
9	108900370	G	A	G108900370A	ELP1	NM_003640.5(ELP1):c.2020C>T:p.Gln674Ter	coding	Pathogenic
9	108900606	C	G	C108900606G	ELP1	NM_003640.5(ELP1):c.2015-231G>C	noncoding	Benign
9	108901652	A	T	A108901652T	ELP1	NM_003640.5(ELP1):c.1884T>A:p.Cys628Ter	coding	Pathogenic
9	108901820	C	T	C108901820T	ELP1	NM_003640.5(ELP1):c.1855-139G>A	noncoding	Benign
9	108902530	C	T	C108902530T	ELP1	NM_003640.5(ELP1):c.1854+309G>A	noncoding	Benign
9	108903439	G	A	G108903439A	ELP1	NM_003640.5(ELP1):c.1750+124C>T	noncoding	Benign
9	108906070	A	T	A108906070T	ELP1	NM_003640.5(ELP1):c.1643+233T>A	noncoding	Benign
9	108906158	C	T	C108906158T	ELP1	NM_003640.5(ELP1):c.1643+145G>A	noncoding	Benign
9	108906698	A	G	A108906698G	ELP1	NM_003640.5(ELP1):c.1461-213T>C	noncoding	Benign
9	108908143	A	C	A108908143C	ELP1	NM_003640.5(ELP1):c.1460+162T>G	noncoding	Benign
9	108908405	C	A	C108908405A	ELP1	NM_003640.5(ELP1):c.1361-1G>T	coding	Pathogenic
9	108910880	T	C	T108910880C	ELP1	NM_003640.5(ELP1):c.1360+130A>G	noncoding	Benign
9	108911031	G	A	G108911031A	ELP1	NM_003640.5(ELP1):c.1339C>T:p.Gln447Ter	coding	Pathogenic
9	108911081	A	T	A108911081T	ELP1	NM_003640.5(ELP1):c.1289T>A:p.Leu430Ter	coding	Pathogenic
9	108911300	T	C	T108911300C	ELP1	NM_003640.5(ELP1):c.1190-120A>G	noncoding	Benign
9	108912400	C	T	C108912400T	ELP1	NM_003640.5(ELP1):c.1053G>A:p.Trp351Ter	coding	Pathogenic
9	108912401	C	T	C108912401T	ELP1	NM_003640.5(ELP1):c.1052G>A:p.Trp351Ter	coding	Pathogenic
9	108912463	C	T	C108912463T	ELP1	NM_003640.5(ELP1):c.990G>A:p.Trp330Ter	coding	Pathogenic
9	108912484	C	T	C108912484T	ELP1	NM_003640.5(ELP1):c.969G>A:p.Trp323Ter	coding	Pathogenic
9	108912753	G	T	G108912753T	ELP1	NM_003640.5(ELP1):c.959-259C>A	noncoding	Benign
9	108916369	T	C	T108916369C	ELP1	NM_003640.5(ELP1):c.865-72A>G	noncoding	Benign
9	108918814	C	T	C108918814T	ELP1	NM_003640.5(ELP1):c.737G>A:p.Trp246Ter	coding	Pathogenic
9	108919330	C	T	C108919330T	ELP1	NM_003640.5(ELP1):c.572G>A:p.Trp191Ter	coding	Pathogenic/Likely_pathogenic
9	108919563	C	G	C108919563G	ELP1	NM_003640.5(ELP1):c.553-214G>C	noncoding	Benign
9	108919584	T	C	T108919584C	ELP1	NM_003640.5(ELP1):c.553-235A>G	noncoding	Benign
9	108926487	C	T	C108926487T	ELP1	NM_003640.5(ELP1):c.466+36G>A	noncoding	Benign
9	108927202	T	C	T108927202C	ELP1	NM_003640.5(ELP1):c.385+170A>G	noncoding	Benign
9	108927445	A	G	A108927445G	ELP1	NM_003640.5(ELP1):c.312T>C:p.Cys104=	coding	Pathogenic
9	108927450	C	A	C108927450A	ELP1	NM_003640.5(ELP1):c.307G>T:p.Glu103Ter	coding	Pathogenic
9	108931068	G	A	G108931068A	ELP1	NM_003640.5(ELP1):c.79C>T:p.Arg27Ter	coding	Pathogenic/Likely_pathogenic
9	108931083	G	A	G108931083A	ELP1	NM_003640.5(ELP1):c.64C>T:p.Gln22Ter	coding	Pathogenic
9	108934341	C	G	C108934341G	ELP1	Single_allele	noncoding	Benign
9	109137174	A	G	A109137174G	FRRS1L	NM_014334.4(FRRS1L):c.*281T>C	noncoding	Benign
9	109137648	A	G	A109137648G	FRRS1L	NM_014334.4(FRRS1L):c.710-21T>C	noncoding	Benign
9	109141069	C	T	C109141069T	FRRS1L	NM_014334.4(FRRS1L):c.709+274G>A	noncoding	Benign
9	109141848	A	T	A109141848T	FRRS1L	NM_014334.4(FRRS1L):c.463-259T>A	noncoding	Benign
9	109147346	G	A	G109147346A	FRRS1L	NM_014334.4(FRRS1L):c.324-157C>T	noncoding	Benign
9	109147411	G	C	G109147411C	FRRS1L	NM_014334.4(FRRS1L):c.324-222C>G	noncoding	Benign
9	109149495	G	A	G109149495A	FRRS1L	NM_014334.4(FRRS1L):c.323+141C>T	noncoding	Benign
9	109149543	C	G	C109149543G	FRRS1L	NM_014334.4(FRRS1L):c.323+93G>C	noncoding	Benign
9	109150010	C	G	C109150010G	FRRS1L	NM_014334.4(FRRS1L):c.239-290G>C	noncoding	Benign
9	109150012	G	A	G109150012A	FRRS1L	NM_014334.4(FRRS1L):c.239-292C>T	noncoding	Benign
9	109166593	C	A	C109166593A	FRRS1L	NM_014334.4(FRRS1L):c.238+308G>T	noncoding	Benign
9	109166733	C	T	C109166733T	FRRS1L	NM_014334.4(FRRS1L):c.238+168G>A	noncoding	Benign
9	109167018	C	A	C109167018A	FRRS1L	NM_014334.4(FRRS1L):c.121G>T:p.Gly41Ter	coding	Pathogenic
9	109167140	C	G	C109167140G	FRRS1L	NM_014334.4(FRRS1L):c.-2G>C	coding	Benign
9	109167276	G	A	G109167276A	FRRS1L	NC_000009.11:g.111929556G>A	coding	Pathogenic
9	109167318	C	T	C109167318T	FRRS1L	Single_allele	noncoding	Benign
9	109167344	C	G	C109167344G	FRRS1L	Single_allele	noncoding	Benign
9	110668491	C	G	C110668491G	MUSK	NM_005592.3(MUSK):c.-414C>G	noncoding	Benign
9	110687218	A	G	A110687218G	MUSK	NM_005592.4(MUSK):c.308A>G:p.Asn103Ser	coding	Pathogenic/Likely_pathogenic
9	110687288	G	A	G110687288A	MUSK	NM_005592.4(MUSK):c.358+20G>A	noncoding	Benign/Likely_benign
9	110695762	G	A	G110695762A	MUSK	NM_005592.4(MUSK):c.486+232G>A	noncoding	Benign
9	110697192	T	C	T110697192C	MUSK	NM_005592.4(MUSK):c.487-133T>C	noncoding	Benign
9	110728692	A	C	A110728692C	MUSK	NM_005592.4(MUSK):c.629-5559A>C	coding	Benign
9	110734153	A	C	A110734153C	MUSK	NM_005592.4(MUSK):c.629-98A>C	noncoding	Benign
9	110747326	A	C	A110747326C	MUSK	NM_005592.4(MUSK):c.754-315A>C	noncoding	Benign
9	110767708	A	G	A110767708G	MUSK	NM_005592.4(MUSK):c.921-112A>G	noncoding	Benign
9	110776011	A	G	A110776011G	MUSK	NM_005592.4(MUSK):c.1360+48A>G	noncoding	Benign
9	110776620	T	C	T110776620C	MUSK	NM_005592.4(MUSK):c.1361-12T>C	noncoding	Benign/Likely_benign
9	110784590	A	G	A110784590G	MUSK	NM_005592.4(MUSK):c.1385-225A>G	noncoding	Benign
9	110785196	G	A	G110785196A	MUSK	NM_005592.4(MUSK):c.1586+180G>A	noncoding	Benign
9	110785833	T	C	T110785833C	MUSK	NM_005592.4(MUSK):c.1778+115T>C	noncoding	Benign
9	110787477	T	C	T110787477C	MUSK	NM_005592.4(MUSK):c.1779-213T>C	noncoding	Benign
9	110800463	A	C	A110800463C	MUSK	NM_005592.4(MUSK):c.2085A>C:p.Pro695=	coding	Benign
9	110800548	C	T	C110800548T	MUSK	NM_005592.4(MUSK):c.2170C>T:p.Arg724Ter	coding	Pathogenic
9	110800661	C	T	C110800661T	MUSK	NM_005592.4(MUSK):c.2283C>T:p.Asn761=	coding	Benign
9	110801141	G	A	G110801141A	MUSK	NM_005592.4(MUSK):c.*153G>A	noncoding	Benign
9	111686831	C	T	C111686831T	SHOC1	NM_001378211.1(SHOC1):c.4466G>A:p.Arg1489His	coding	Pathogenic
9	111718250	C	T	C111718250T	SHOC1	NM_001378211.1(SHOC1):c.2170G>A:p.Ala724Thr	coding	Pathogenic
9	111727693	G	A	G111727693A	SHOC1	NM_001378211.1(SHOC1):c.1774C>T:p.Arg592Ter	coding	Pathogenic
9	112838568	T	C	T112838568C	SNX30	NM_001012994.2(SNX30):c.885T>C:p.Ala295=	coding	Benign
9	113275761	C	G	C113275761G	PRPF4	NM_001244926.2(PRPF4):c.18C>G:p.Ala6=	coding	Benign
9	113276607	C	T	C113276607T	PRPF4	NM_001244926.2(PRPF4):c.87C>T:p.Ile29=	coding	Benign
9	113276739	T	C	T113276739C	PRPF4	NM_001244926.2(PRPF4):c.205+14T>C	noncoding	Benign
9	113282670	C	G	C113282670G	PRPF4	NM_001244926.2(PRPF4):c.417C>G:p.Val139=	coding	Benign
9	113282670	C	T	C113282670T	PRPF4	NM_001244926.2(PRPF4):c.417C>T:p.Val139=	coding	Benign
9	113282718	A	G	A113282718G	PRPF4	NM_001244926.2(PRPF4):c.465A>G:p.Lys155=	coding	Benign
9	113283497	G	A	G113283497A	PRPF4	NM_001244926.2(PRPF4):c.654+15G>A	noncoding	Benign
9	113283500	A	G	A113283500G	PRPF4	NM_001244926.2(PRPF4):c.654+18A>G	noncoding	Benign
9	113284405	C	A	C113284405A	PRPF4	NM_001244926.2(PRPF4):c.749+16C>A	noncoding	Benign
9	113286697	T	C	T113286697C	PRPF4	NM_001244926.2(PRPF4):c.809-8T>C	noncoding	Benign
9	113290878	A	G	A113290878G	PRPF4	NM_001244926.2(PRPF4):c.1254-20A>G	noncoding	Benign
9	113291455	C	T	C113291455T	PRPF4	NM_001244926.2(PRPF4):c.1373-12C>T	noncoding	Benign
9	113291543	G	A	G113291543A	PRPF4	NM_001244926.2(PRPF4):c.1449G>A:p.Pro483=	coding	Benign
9	113388626	A	G	A113388626G	ALAD	NM_000031.6(ALAD):c.932-265T>C	noncoding	Benign
9	113388911	A	G	A113388911G	ALAD	NM_000031.6(ALAD):c.931+66T>C	noncoding	Benign
9	113389221	T	C	T113389221C	ALAD	NM_000031.6(ALAD):c.802-115A>G	noncoding	Benign
9	113390710	C	G	C113390710G	ALAD	NM_000031.6(ALAD):c.398-34G>C	noncoding	Benign
9	113390970	A	G	A113390970G	ALAD	NM_000031.6(ALAD):c.262-37T>C	noncoding	Benign
9	113391072	T	C	T113391072C	ALAD	NM_000031.6(ALAD):c.262-139A>G	noncoding	Benign
9	113391109	C	T	C113391109T	ALAD	NM_000031.6(ALAD):c.262-176G>A	noncoding	Benign
9	113391819	C	T	C113391819T	ALAD	NM_000031.6(ALAD):c.165-196G>A	noncoding	Benign
9	113393108	G	A	G113393108A	ALAD	NM_000031.6(ALAD):c.113+339C>T	noncoding	Benign
9	113393148	G	A	G113393148A	ALAD	NM_000031.6(ALAD):c.113+299C>T	noncoding	Benign
9	114095072	C	T	C114095072T	KIF12	NM_001388308.1(KIF12):c.1070G>A:p.Arg357Gln	coding	Pathogenic
9	114095073	G	A	G114095073A	KIF12	NM_001388308.1(KIF12):c.1069C>T:p.Arg357Ter	coding	Pathogenic
9	114096069	G	A	G114096069A	KIF12	NM_001388308.1(KIF12):c.877C>T:p.Arg293Ter	coding	Pathogenic
9	114162501	A	G	A114162501G	COL27A1	NM_032888.4(COL27A1):c.63-214A>G	noncoding	Benign
9	114167541	G	A	G114167541A	COL27A1	NM_032888.4(COL27A1):c.134-148G>A	noncoding	Benign
9	114167820	G	A	G114167820A	COL27A1	NM_032888.4(COL27A1):c.265G>A:p.Val89Ile	coding	Benign
9	114167914	A	G	A114167914G	COL27A1	NM_032888.4(COL27A1):c.359A>G:p.Gln120Arg	coding	Benign
9	114168045	C	T	C114168045T	COL27A1	NM_032888.4(COL27A1):c.490C>T:p.Arg164Ter	coding	Pathogenic
9	114168771	C	T	C114168771T	COL27A1	NM_032888.4(COL27A1):c.1216C>T:p.Gln406Ter	coding	Pathogenic
9	114168819	G	A	G114168819A	COL27A1	NM_032888.4(COL27A1):c.1264G>A:p.Ala422Thr	coding	Benign
9	114169165	T	C	T114169165C	COL27A1	NM_032888.4(COL27A1):c.1610T>C:p.Ile537Thr	coding	Benign
9	114169386	A	T	A114169386T	COL27A1	NM_032888.4(COL27A1):c.1831A>T:p.Ile611Phe	coding	Benign
9	114169457	C	T	C114169457T	COL27A1	NM_032888.4(COL27A1):c.1902C>T:p.Gly634=	coding	Benign
9	114178314	A	G	A114178314G	COL27A1	NM_032888.4(COL27A1):c.1932A>G:p.Leu644=	coding	Benign
9	114182745	T	C	T114182745C	COL27A1	NM_032888.4(COL27A1):c.1963-277T>C	noncoding	Benign
9	114183101	A	G	A114183101G	COL27A1	NM_032888.4(COL27A1):c.2016+26A>G	noncoding	Benign
9	114183174	A	C	A114183174C	COL27A1	NM_032888.4(COL27A1):c.2016+99A>C	noncoding	Benign
9	114183267	T	C	T114183267C	COL27A1	NM_032888.4(COL27A1):c.2016+192T>C	noncoding	Benign
9	114195864	C	T	C114195864T	COL27A1	NM_032888.4(COL27A1):c.2071-95C>T	noncoding	Benign
9	114195934	C	T	C114195934T	COL27A1	NM_032888.4(COL27A1):c.2071-25C>T	noncoding	Benign
9	114195936	C	T	C114195936T	COL27A1	NM_032888.4(COL27A1):c.2071-23C>T	noncoding	Benign
9	114195946	C	T	C114195946T	COL27A1	NM_032888.4(COL27A1):c.2071-13C>T	noncoding	Benign
9	114196008	G	A	G114196008A	COL27A1	NM_032888.4(COL27A1):c.2120G>A:p.Arg707Gln	coding	Benign
9	114205116	T	A	T114205116A	COL27A1	NM_032888.4(COL27A1):c.2139T>A:p.Tyr713Ter	coding	Pathogenic
9	114205125	G	T	G114205125T	COL27A1	NM_032888.4(COL27A1):c.2148G>T:p.Pro716=	coding	Benign
9	114205158	A	G	A114205158G	COL27A1	NM_032888.4(COL27A1):c.2169+12A>G	noncoding	Benign
9	114205672	T	C	T114205672C	COL27A1	NM_032888.4(COL27A1):c.2170-87T>C	noncoding	Benign
9	114206232	C	T	C114206232T	COL27A1	NM_032888.4(COL27A1):c.2224-20C>T	noncoding	Benign
9	114210993	C	T	C114210993T	COL27A1	NM_032888.4(COL27A1):c.2334C>T:p.Gly778=	coding	Benign
9	114222282	G	T	G114222282T	COL27A1	NM_032888.4(COL27A1):c.2466+15G>T	noncoding	Benign
9	114235714	T	C	T114235714C	COL27A1	NM_032888.4(COL27A1):c.2619+62T>C	noncoding	Benign
9	114236963	G	C	G114236963C	COL27A1	NM_032888.4(COL27A1):c.2620-18G>C	noncoding	Benign
9	114237007	C	T	C114237007T	COL27A1	NM_032888.4(COL27A1):c.2646C>T:p.Pro882=	coding	Benign
9	114240237	C	T	C114240237T	COL27A1	NM_032888.4(COL27A1):c.2745C>T:p.Ile915=	coding	Benign
9	114240286	C	T	C114240286T	COL27A1	NM_032888.4(COL27A1):c.2781+13C>T	noncoding	Benign
9	114240449	C	T	C114240449T	COL27A1	NM_032888.4(COL27A1):c.2797C>T:p.Arg933Ter	coding	Pathogenic
9	114240507	T	A	T114240507A	COL27A1	NM_032888.4(COL27A1):c.2835+20T>A	noncoding	Benign
9	114258525	T	C	T114258525C	COL27A1	NM_032888.4(COL27A1):c.3142-16T>C	noncoding	Benign
9	114264788	C	T	C114264788T	COL27A1	NM_032888.4(COL27A1):c.3250-136C>T	noncoding	Benign
9	114264885	A	G	A114264885G	COL27A1	NM_032888.4(COL27A1):c.3250-39A>G	noncoding	Benign
9	114264906	G	A	G114264906A	COL27A1	NM_032888.4(COL27A1):c.3250-18G>A	noncoding	Benign
9	114264969	G	C	G114264969C	COL27A1	NM_032888.4(COL27A1):c.3294+1G>C	coding	Pathogenic
9	114265429	C	A	C114265429A	COL27A1	NM_032888.4(COL27A1):c.3347C>A:p.Pro1116Gln	coding	Benign
9	114266610	G	T	G114266610T	COL27A1	NM_032888.4(COL27A1):c.3439G>T:p.Gly1147Ter	coding	Pathogenic/Likely_pathogenic
9	114267491	C	T	C114267491T	COL27A1	NM_032888.4(COL27A1):c.3448-13C>T	noncoding	Benign
9	114270742	T	C	T114270742C	COL27A1	NM_032888.4(COL27A1):c.3570T>C:p.Leu1190=	coding	Benign
9	114270748	T	C	T114270748C	COL27A1	NM_032888.4(COL27A1):c.3576T>C:p.Gly1192=	coding	Benign
9	114270816	C	T	C114270816T	COL27A1	NM_032888.4(COL27A1):c.3609+35C>T	noncoding	Benign
9	114275540	A	G	A114275540G	COL27A1	NM_032888.4(COL27A1):c.3610-121A>G	noncoding	Benign
9	114275635	T	C	T114275635C	COL27A1	NM_032888.4(COL27A1):c.3610-26T>C	noncoding	Benign
9	114275643	T	G	T114275643G	COL27A1	NM_032888.4(COL27A1):c.3610-18T>G	noncoding	Benign
9	114275787	T	A	T114275787A	COL27A1	NM_032888.4(COL27A1):c.3717+19T>A	noncoding	Benign
9	114282178	A	G	A114282178G	COL27A1	NM_032888.4(COL27A1):c.3718-99A>G	noncoding	Benign
9	114282258	G	T	G114282258T	COL27A1	NM_032888.4(COL27A1):c.3718-19G>T	noncoding	Benign
9	114282471	T	C	T114282471C	COL27A1	NM_032888.4(COL27A1):c.3786T>C:p.Tyr1262=	coding	Benign
9	114282563	C	T	C114282563T	COL27A1	NM_032888.4(COL27A1):c.3878C>T:p.Thr1293Met	coding	Benign/Likely_benign
9	114283717	G	A	G114283717A	COL27A1	NM_032888.4(COL27A1):c.3888G>A:p.Pro1296=	coding	Benign
9	114283890	G	A	G114283890A	COL27A1	NM_032888.4(COL27A1):c.3933+128G>A	noncoding	Benign
9	114288510	G	A	G114288510A	COL27A1	NM_032888.4(COL27A1):c.4043G>A:p.Arg1348Gln	coding	Benign
9	114288530	C	G	C114288530G	COL27A1	NM_032888.4(COL27A1):c.4044+19C>G	noncoding	Benign
9	114288717	C	T	C114288717T	COL27A1	NM_032888.4(COL27A1):c.4060C>T:p.Arg1354Ter	coding	Pathogenic
9	114288718	G	A	G114288718A	COL27A1	NM_032888.4(COL27A1):c.4061G>A:p.Arg1354Gln	coding	Benign
9	114288740	A	G	A114288740G	COL27A1	NM_032888.4(COL27A1):c.4083A>G:p.Gly1361=	coding	Benign
9	114288922	G	A	G114288922A	COL27A1	NM_032888.4(COL27A1):c.4107G>A:p.Glu1369=	coding	Benign
9	114288991	C	A	C114288991A	COL27A1	NM_032888.4(COL27A1):c.4152+24C>A	noncoding	Benign
9	114289306	C	G	C114289306G	COL27A1	NM_032888.4(COL27A1):c.4206+11C>G	noncoding	Benign
9	114289307	G	A	G114289307A	COL27A1	NM_032888.4(COL27A1):c.4206+12G>A	noncoding	Benign
9	114289334	A	G	A114289334G	COL27A1	NM_032888.4(COL27A1):c.4206+39A>G	noncoding	Benign
9	114290347	C	T	C114290347T	COL27A1	NM_032888.4(COL27A1):c.4368+16C>T	noncoding	Benign
9	114290935	A	G	A114290935G	COL27A1	NM_032888.4(COL27A1):c.4476+18A>G	noncoding	Benign
9	114292145	C	T	C114292145T	COL27A1	NM_032888.4(COL27A1):c.4519C>T:p.Arg1507Ter	coding	Pathogenic
9	114292262	C	T	C114292262T	COL27A1	NM_032888.4(COL27A1):c.4584+52C>T	noncoding	Benign
9	114300704	C	T	C114300704T	COL27A1	NM_032888.4(COL27A1):c.4701+17C>T	noncoding	Benign
9	114301116	G	A	G114301116A	COL27A1	NM_032888.4(COL27A1):c.4746G>A:p.Ser1582=	coding	Benign
9	114302026	T	C	T114302026C	COL27A1	NM_032888.4(COL27A1):c.4846-56T>C	noncoding	Benign
9	114302065	G	A	G114302065A	COL27A1	NM_032888.4(COL27A1):c.4846-17G>A	noncoding	Benign
9	114302125	C	G	C114302125G	COL27A1	NM_032888.4(COL27A1):c.4872+17C>G	noncoding	Benign
9	114304543	C	T	C114304543T	COL27A1	NM_032888.4(COL27A1):c.4873-65C>T	noncoding	Benign
9	114307715	C	T	C114307715T	COL27A1	NM_032888.4(COL27A1):c.5154C>T:p.Ile1718=	coding	Benign
9	114309415	G	A	G114309415A	COL27A1	NM_032888.4(COL27A1):c.5373G>A:p.Trp1791Ter	coding	Pathogenic
9	114309464	A	G	A114309464G	COL27A1	NM_032888.4(COL27A1):c.5422A>G:p.Met1808Val	coding	Benign
9	114309472	C	T	C114309472T	COL27A1	NM_032888.4(COL27A1):c.5430C>T:p.Gly1810=	coding	Benign
9	114310726	C	T	C114310726T	COL27A1	NM_032888.4(COL27A1):c.*31C>T	noncoding	Benign
9	114403457	C	T	C114403457T	WHRN	NM_015404.4(WHRN):c.2419-118G>A	noncoding	Benign
9	114404067	C	T	C114404067T	WHRN	NM_015404.4(WHRN):c.2247G>A:p.Thr749=	coding	Benign/Likely_benign
9	114406271	C	A	C114406271A	WHRN	NM_015404.4(WHRN):c.2236+84G>T	noncoding	Benign
9	114406721	G	A	G114406721A	WHRN	NM_015404.4(WHRN):c.1870C>T:p.Pro624Ser	coding	Benign/Likely_benign
9	114406769	G	A	G114406769A	WHRN	NM_015404.4(WHRN):c.1822C>T:p.Gln608Ter	coding	Pathogenic
9	114406878	G	A	G114406878A	WHRN	NM_015404.4(WHRN):c.1713C>T:p.Ser571=	coding	Benign/Likely_benign
9	114407968	G	A	G114407968A	WHRN	NM_015404.4(WHRN):c.1677C>T:p.Asn559=	coding	Benign/Likely_benign
9	114423415	G	C	G114423415C	WHRN	NM_015404.4(WHRN):c.1525C>G:p.Pro509Ala	coding	Benign
9	114423454	G	A	G114423454A	WHRN	NM_015404.4(WHRN):c.1486C>T:p.Leu496=	coding	Benign/Likely_benign
9	114424312	T	A	T114424312A	WHRN	NM_015404.4(WHRN):c.1416+22A>T	noncoding	Benign
9	114425288	C	T	C114425288T	WHRN	NM_015404.4(WHRN):c.1167-264G>A	noncoding	Benign
9	114426168	T	A	T114426168A	WHRN	NM_015404.4(WHRN):c.1166+43A>T	noncoding	Benign
9	114426434	T	C	T114426434C	WHRN	NM_015404.4(WHRN):c.964-21A>G	noncoding	Benign
9	114465952	C	G	C114465952G	WHRN	NM_015404.4(WHRN):c.963+315G>C	noncoding	Benign
9	114465953	A	T	A114465953T	WHRN	NM_015404.4(WHRN):c.963+314T>A	noncoding	Benign
9	114478552	C	T	C114478552T	WHRN	NM_015404.4(WHRN):c.837+1G>A	noncoding	Pathogenic
9	114478837	C	A	C114478837A	WHRN	NM_015404.4(WHRN):c.619-66G>T	noncoding	Benign
9	114504059	A	T	A114504059T	WHRN	NM_015404.4(WHRN):c.618+125T>A	noncoding	Benign
9	114505662	G	T	G114505662T	WHRN	Single_allele	noncoding	Benign
9	115021264	C	T	C115021264T	TNC	NM_002160.4(TNC):c.6499G>A:p.Val2167Ile	coding	Benign/Likely_benign
9	115024229	G	A	G115024229A	TNC	NM_002160.4(TNC):c.6332-93C>T	noncoding	Benign
9	115026723	G	A	G115026723A	TNC	NM_002160.4(TNC):c.6170-28C>T	noncoding	Benign
9	115029338	T	C	T115029338C	TNC	NM_002160.4(TNC):c.6169+22A>G	noncoding	Benign
9	115029995	G	C	G115029995C	TNC	NM_002160.4(TNC):c.6072+259C>G	noncoding	Benign
9	115030147	G	T	G115030147T	TNC	NM_002160.4(TNC):c.6072+107C>A	noncoding	Benign
9	115030304	C	G	C115030304G	TNC	NM_002160.4(TNC):c.6022G>C:p.Glu2008Gln	coding	Benign
9	115030597	A	T	A115030597T	TNC	NM_002160.4(TNC):c.5921-192T>A	noncoding	Benign
9	115031378	C	T	C115031378T	TNC	NM_002160.4(TNC):c.5920+175G>A	noncoding	Benign
9	115031875	G	A	G115031875A	TNC	NM_002160.4(TNC):c.5788-190C>T	noncoding	Benign
9	115035115	G	A	G115035115A	TNC	NM_002160.4(TNC):c.5787+89C>T	noncoding	Benign
9	115035318	T	C	T115035318C	TNC	NM_002160.4(TNC):c.5673A>G:p.Arg1891=	coding	Benign
9	115036553	G	C	G115036553C	TNC	NM_002160.4(TNC):c.5513-312C>G	noncoding	Benign
9	115036558	C	T	C115036558T	TNC	NM_002160.4(TNC):c.5513-317G>A	noncoding	Benign
9	115038138	T	A	T115038138A	TNC	NM_002160.4(TNC):c.5512+123A>T	noncoding	Benign
9	115038415	T	C	T115038415C	TNC	NM_002160.4(TNC):c.5393-35A>G	noncoding	Benign
9	115040706	G	T	G115040706T	TNC	NM_002160.4(TNC):c.5392+235C>A	noncoding	Benign
9	115041101	G	C	G115041101C	TNC	NM_002160.4(TNC):c.5249-17C>G	noncoding	Benign
9	115041301	A	G	A115041301G	TNC	NM_002160.4(TNC):c.5249-217T>C	noncoding	Benign
9	115041304	A	C	A115041304C	TNC	NM_002160.4(TNC):c.5249-220T>G	noncoding	Benign
9	115041304	A	G	A115041304G	TNC	NM_002160.4(TNC):c.5249-220T>C	noncoding	Benign
9	115041309	C	G	C115041309G	TNC	NM_002160.4(TNC):c.5249-225G>C	noncoding	Benign
9	115041311	G	C	G115041311C	TNC	NM_002160.4(TNC):c.5249-227C>G	noncoding	Benign
9	115041314	G	A	G115041314A	TNC	NM_002160.4(TNC):c.5249-230C>T	noncoding	Benign
9	115041315	A	G	A115041315G	TNC	NM_002160.4(TNC):c.5249-231T>C	noncoding	Benign
9	115042121	A	C	A115042121C	TNC	NM_002160.4(TNC):c.5248+98T>G	noncoding	Benign
9	115042265	T	C	T115042265C	TNC	NM_002160.4(TNC):c.5202A>G:p.Thr1734=	coding	Benign
9	115042388	T	C	T115042388C	TNC	NM_002160.4(TNC):c.5126-47A>G	noncoding	Benign
9	115042670	T	G	T115042670G	TNC	NM_002160.4(TNC):c.5126-329A>C	noncoding	Benign
9	115046209	C	T	C115046209T	TNC	NM_002160.4(TNC):c.5125+201G>A	noncoding	Benign
9	115046506	T	A	T115046506A	TNC	NM_002160.4(TNC):c.5029A>T:p.Ile1677Leu	coding	Benign
9	115047962	A	T	A115047962T	TNC	NM_002160.4(TNC):c.4852+298T>A	noncoding	Benign
9	115047971	G	T	G115047971T	TNC	NM_002160.4(TNC):c.4852+289C>A	noncoding	Benign
9	115048016	G	A	G115048016A	TNC	NM_002160.4(TNC):c.4852+244C>T	noncoding	Benign
9	115052945	G	C	G115052945C	TNC	NM_002160.4(TNC):c.4579+4208C>G	noncoding	Benign
9	115057110	A	T	A115057110T	TNC	NM_002160.4(TNC):c.4579+43T>A	noncoding	Benign
9	115057157	C	T	C115057157T	TNC	NM_002160.4(TNC):c.4575G>A:p.Thr1525=	coding	Benign
9	115059467	A	C	A115059467C	TNC	NM_002160.4(TNC):c.4306+263T>G	noncoding	Benign
9	115059611	G	A	G115059611A	TNC	NM_002160.4(TNC):c.4306+119C>T	noncoding	Benign
9	115059854	C	T	C115059854T	TNC	NM_002160.4(TNC):c.4182G>A:p.Thr1394=	coding	Benign
9	115060073	C	T	C115060073T	TNC	NM_002160.4(TNC):c.4034-71G>A	noncoding	Benign
9	115062806	G	A	G115062806A	TNC	NM_002160.4(TNC):c.4033+111C>T	noncoding	Benign
9	115063325	G	A	G115063325A	TNC	NM_002160.4(TNC):c.3761-136C>T	noncoding	Benign
9	115063667	C	T	C115063667T	TNC	NM_002160.4(TNC):c.3760+129G>A	noncoding	Benign
9	115063817	G	T	G115063817T	TNC	NM_002160.4(TNC):c.3739C>A:p.Leu1247Ile	coding	Benign
9	115073428	A	G	A115073428G	TNC	NM_002160.4(TNC):c.3214+175T>C	noncoding	Benign
9	115073620	C	T	C115073620T	TNC	NM_002160.4(TNC):c.3197G>A:p.Arg1066His	coding	Benign
9	115073909	A	G	A115073909G	TNC	NM_002160.4(TNC):c.2951-43T>C	noncoding	Benign
9	115074121	G	A	G115074121A	TNC	NM_002160.4(TNC):c.2951-255C>T	noncoding	Benign
9	115075814	C	T	C115075814T	TNC	NM_002160.4(TNC):c.2950+218G>A	noncoding	Benign
9	115075995	C	G	C115075995G	TNC	NM_002160.4(TNC):c.2950+37G>C	noncoding	Benign
9	115076345	C	G	C115076345G	TNC	NM_002160.4(TNC):c.2860+45G>C	noncoding	Benign
9	115076779	C	T	C115076779T	TNC	NM_002160.4(TNC):c.2675-204G>A	noncoding	Benign
9	115077782	A	G	A115077782G	TNC	NM_002160.4(TNC):c.2674+161T>C	noncoding	Benign
9	115078422	T	C	T115078422C	TNC	NM_002160.4(TNC):c.2405-210A>G	noncoding	Benign
9	115078463	G	C	G115078463C	TNC	NM_002160.4(TNC):c.2405-251C>G	noncoding	Benign
9	115081960	G	A	G115081960A	TNC	NM_002160.4(TNC):c.2248-32C>T	noncoding	Benign
9	115082492	G	C	G115082492C	TNC	NM_002160.4(TNC):c.2247+200C>G	noncoding	Benign
9	115082654	C	T	C115082654T	TNC	NM_002160.4(TNC):c.2247+38G>A	noncoding	Benign
9	115083054	T	G	T115083054G	TNC	NM_002160.4(TNC):c.2132-247A>C	noncoding	Benign
9	115083068	A	G	A115083068G	TNC	NM_002160.4(TNC):c.2132-261T>C	noncoding	Benign
9	115083124	G	A	G115083124A	TNC	NM_002160.4(TNC):c.2132-317C>T	noncoding	Benign
9	115084171	A	G	A115084171G	TNC	NM_002160.4(TNC):c.2131+38T>C	noncoding	Benign
9	115084291	C	T	C115084291T	TNC	NM_002160.4(TNC):c.2049G>A:p.Glu683=	coding	Benign
9	115084301	T	C	T115084301C	TNC	NM_002160.4(TNC):c.2039A>G:p.Gln680Arg	coding	Benign
9	115084701	C	G	C115084701G	TNC	NM_002160.4(TNC):c.1868-229G>C	noncoding	Benign
9	115084706	G	T	G115084706T	TNC	NM_002160.4(TNC):c.1868-234C>A	noncoding	Benign
9	115085590	T	C	T115085590C	TNC	NM_002160.4(TNC):c.1867+274A>G	noncoding	Benign
9	115085833	A	T	A115085833T	TNC	NM_002160.4(TNC):c.1867+31T>A	noncoding	Benign
9	115085922	T	C	T115085922C	TNC	NM_002160.4(TNC):c.1809A>G:p.Gln603=	coding	Benign
9	115086115	T	C	T115086115C	TNC	NM_002160.4(TNC):c.1616A>G:p.Gln539Arg	coding	Benign
9	115086409	T	C	T115086409C	TNC	NM_002160.4(TNC):c.1322A>G:p.Asn441Ser	coding	Benign/Likely_benign
9	115086434	C	T	C115086434T	TNC	NM_002160.4(TNC):c.1297G>A:p.Asp433Asn	coding	Benign
9	115087035	T	C	T115087035C	TNC	NM_002160.4(TNC):c.696A>G:p.Val232=	coding	Benign
9	115087103	C	T	C115087103T	TNC	NM_002160.4(TNC):c.628G>A:p.Gly210Ser	coding	Benign/Likely_benign
9	115087362	T	G	T115087362G	TNC	NM_002160.4(TNC):c.458-89A>C	noncoding	Benign
9	115087387	C	G	C115087387G	TNC	NM_002160.4(TNC):c.458-114G>C	noncoding	Benign
9	115087443	C	G	C115087443G	TNC	NM_002160.4(TNC):c.458-170G>C	noncoding	Benign
9	115087471	T	C	T115087471C	TNC	NM_002160.4(TNC):c.458-198A>G	noncoding	Benign
9	115090585	C	A	C115090585A	TNC	NM_002160.4(TNC):c.434G>T:p.Gly145Val	coding	Benign
9	115090743	C	T	C115090743T	TNC	NM_002160.4(TNC):c.276G>A:p.Val92=	coding	Benign
9	115090824	C	T	C115090824T	TNC	NM_002160.4(TNC):c.195G>A:p.Ser65=	coding	Benign
9	115090958	C	T	C115090958T	TNC	NM_002160.4(TNC):c.61G>A:p.Glu21Lys	coding	Benign/Likely_benign
9	116344602	C	A	C116344602A	PAPPA	NM_002581.5(PAPPA):c.3671C>A:p.Ser1224Tyr	coding	Benign
9	116687467	C	T	C116687467T	TRIM32	NM_012210.4(TRIM32):c.-82+86C>T	noncoding	Benign
9	116698610	C	T	C116698610T	TRIM32	NM_012210.4(TRIM32):c.868C>T:p.Gln290Ter	coding	Pathogenic
9	116699513	G	A	G116699513A	TRIM32	NM_012210.4(TRIM32):c.1771G>A:p.Val591Met	coding	Pathogenic
9	117008201	C	T	C117008201T	ASTN2	NM_001365068.1(ASTN2):c.1482G>A:p.Pro494=	coding	Benign
9	117008272	G	A	G117008272A	ASTN2	NM_001365068.1(ASTN2):c.1424-13C>T	noncoding	Benign
9	117716658	G	C	G117716658C	TLR4	NM_138554.5(TLR4):c.*2010G>C	noncoding	Benign
9	120403167	G	T	G120403167T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5042-96C>A	noncoding	Benign
9	120403829	A	G	A120403829G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5041+207T>C	noncoding	Benign
9	120403956	G	A	G120403956A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5041+80C>T	noncoding	Benign
9	120408027	C	A	C120408027A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4726+320G>T	noncoding	Benign
9	120408227	C	T	C120408227T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4726+120G>A	noncoding	Benign
9	120408479	C	G	C120408479G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4605-11G>C	noncoding	Benign/Likely_benign
9	120408549	A	G	A120408549G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4605-81T>C	noncoding	Benign
9	120409378	A	G	A120409378G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4415-62T>C	noncoding	Benign
9	120411744	T	C	T120411744C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4298-270A>G	noncoding	Benign
9	120414839	C	A	C120414839A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4297+201G>T	noncoding	Benign
9	120437524	G	T	G120437524T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.3726C>A:p.Tyr1242Ter	coding	Pathogenic
9	120443420	C	T	C120443420T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.3148+200G>A	noncoding	Benign
9	120443498	C	A	C120443498A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.3148+122G>T	noncoding	Benign
9	120447583	A	G	A120447583G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.3025+312T>C	noncoding	Benign
9	120460369	T	C	T120460369C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.2202+203A>G	noncoding	Benign
9	120467801	A	T	A120467801T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.2106+59T>A	noncoding	Benign
9	120471427	G	A	G120471427A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1858+321C>T	noncoding	Benign
9	120477708	C	T	C120477708T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1627-258G>A	noncoding	Benign
9	120487466	A	C	A120487466C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1483-29T>G	noncoding	Benign
9	120518214	A	T	A120518214T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1311+213T>A	noncoding	Benign
9	120518227	G	A	G120518227A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1311+200C>T	noncoding	Benign
9	120518459	G	A	G120518459A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1279C>T:p.Arg427Ter	coding	Pathogenic
9	120524701	A	G	A120524701G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1092+285T>C	noncoding	Benign
9	120524844	A	C	A120524844C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1092+142T>G	noncoding	Benign
9	120525129	C	G	C120525129G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1000-51G>C	noncoding	Benign
9	120528718	C	A	C120528718A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.879+26G>T	noncoding	Benign
9	120529095	G	C	G120529095C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.826-298C>G	noncoding	Benign
9	120545742	C	A	C120545742A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.355G>T:p.Glu119Ter	coding	Pathogenic
9	120568058	C	A	C120568058A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.195+263G>T	noncoding	Benign
9	120572167	T	C	T120572167C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.60-126A>G	noncoding	Benign
9	120579631	A	C	A120579631C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.59+289T>G	noncoding	Benign
9	120957271	G	A	G120957271A	C5	NM_001735.3(C5):c.4762+14C>T	noncoding	Benign
9	120963693	C	T	C120963693T	C5	NM_001735.3(C5):c.4266G>A:p.Ala1422=	coding	Benign
9	120974762	G	C	G120974762C	C5	NM_001735.3(C5):c.4017+17C>G	noncoding	Benign
9	120976794	G	C	G120976794C	C5	NM_001735.3(C5):c.3770C>G:p.Thr1257Ser	coding	Benign
9	120976911	C	T	C120976911T	C5	NM_001735.3(C5):c.3659-6G>A	noncoding	Benign
9	120991236	C	A	C120991236A	C5	NM_001735.3(C5):c.2896G>T:p.Asp966Tyr	coding	Benign
9	120991297	T	C	T120991297C	C5	NM_001735.3(C5):c.2852-17A>G	noncoding	Benign
9	121015183	A	T	A121015183T	C5	NM_001735.3(C5):c.2059+16T>A	noncoding	Benign
9	121017343	G	A	G121017343A	C5	NM_001735.3(C5):c.1866+19C>T	noncoding	Benign
9	121019959	C	A	C121019959A	C5	NM_001735.3(C5):c.1506+17G>T	noncoding	Benign
9	121020075	C	T	C121020075T	C5	NM_001735.3(C5):c.1407G>A:p.Trp469Ter	coding	Pathogenic
9	121021524	C	T	C121021524T	C5	NM_001735.3(C5):c.1287G>A:p.Thr429=	coding	Benign
9	121023525	G	A	G121023525A	C5	NM_001735.3(C5):c.1001-6C>T	noncoding	Benign
9	121025533	G	C	G121025533C	C5	NM_001735.3(C5):c.921C>G:p.Val307=	coding	Benign
9	121030440	C	T	C121030440T	C5	NM_001735.3(C5):c.715G>A:p.Gly239Ser	coding	Benign
9	121037923	G	A	G121037923A	C5	NM_001735.3(C5):c.450C>T:p.Asp150=	coding	Benign
9	121037940	C	T	C121037940T	C5	NM_001735.3(C5):c.433G>A:p.Val145Ile	coding	Benign
9	121043119	C	T	C121043119T	C5	NM_001735.3(C5):c.306G>A:p.Val102=	coding	Benign
9	121282717	C	T	C121282717T	GSN	NM_198252.3(GSN):c.-10+1155C>T	coding	Benign
9	121285850	C	T	C121285850T	GSN	NM_198252.3(GSN):c.-10+4288C>T	noncoding	Benign
9	121286020	G	A	G121286020A	GSN	NM_198252.3(GSN):c.-10+4458G>A	noncoding	Benign
9	121286183	T	C	T121286183C	GSN	NM_198252.3(GSN):c.-10+4621T>C	coding	Benign
9	121286343	A	G	A121286343G	GSN	NM_198252.3(GSN):c.-10+4781A>G	noncoding	Benign
9	121299557	C	T	C121299557T	GSN	NM_198252.3(GSN):c.-9-2406C>T	noncoding	Benign
9	121299624	C	T	C121299624T	GSN	NM_198252.3(GSN):c.-9-2339C>T	noncoding	Benign
9	121299685	G	A	G121299685A	GSN	NM_198252.3(GSN):c.-9-2278G>A	noncoding	Benign
9	121299879	C	G	C121299879G	GSN	NM_198252.3(GSN):c.-9-2084C>G	coding	Benign
9	121299963	G	T	G121299963T	GSN	NM_198252.3(GSN):c.-9-2000G>T	coding	Benign
9	121301778	C	G	C121301778G	GSN	NM_198252.3(GSN):c.-9-185C>G	noncoding	Benign
9	121302098	G	T	G121302098T	GSN	NM_198252.3(GSN):c.127G>T:p.Ala43Ser	coding	Benign/Likely_benign
9	121302157	C	T	C121302157T	GSN	NM_198252.3(GSN):c.186C>T:p.His62=	coding	Benign
9	121302907	G	A	G121302907A	GSN	NM_198252.3(GSN):c.197-4G>A	noncoding	Benign/Likely_benign
9	121303238	G	A	G121303238A	GSN	NM_198252.3(GSN):c.351+173G>A	noncoding	Benign
9	121310812	C	A	C121310812A	GSN	NM_198252.3(GSN):c.480C>A:p.Asn160Lys	coding	Pathogenic
9	121310864	T	C	T121310864C	GSN	NM_198252.3(GSN):c.513+19T>C	noncoding	Benign
9	121310898	T	C	T121310898C	GSN	NM_198252.3(GSN):c.513+53T>C	noncoding	Benign
9	121312142	G	A	G121312142A	GSN	NM_198252.3(GSN):c.514-197G>A	noncoding	Benign
9	121312213	G	A	G121312213A	GSN	NM_198252.3(GSN):c.514-126G>A	noncoding	Benign
9	121312513	T	G	T121312513G	GSN	NM_198252.3(GSN):c.663+25T>G	noncoding	Benign
9	121313738	G	A	G121313738A	GSN	NM_198252.3(GSN):c.664-196G>A	noncoding	Benign
9	121314051	G	A	G121314051A	GSN	NM_198252.3(GSN):c.753+28G>A	noncoding	Benign
9	121317237	G	T	G121317237T	GSN	NM_198252.3(GSN):c.886+19G>T	noncoding	Benign
9	121318537	G	C	G121318537C	GSN	NM_198252.3(GSN):c.975+43G>C	noncoding	Benign
9	121321142	G	A	G121321142A	GSN	NM_198252.3(GSN):c.1192-126G>A	noncoding	Benign
9	121321193	C	T	C121321193T	GSN	NM_198252.3(GSN):c.1192-75C>T	noncoding	Benign
9	121324660	C	T	C121324660T	GSN	NM_198252.3(GSN):c.1416+16C>T	noncoding	Benign
9	121326453	A	G	A121326453G	GSN	NM_198252.3(GSN):c.1417-59A>G	noncoding	Benign
9	121326490	T	C	T121326490C	GSN	NM_198252.3(GSN):c.1417-22T>C	noncoding	Benign
9	121326580	C	T	C121326580T	GSN	NM_198252.3(GSN):c.1485C>T:p.Ile495=	coding	Benign
9	121326728	A	G	A121326728G	GSN	NM_198252.3(GSN):c.1587+46A>G	noncoding	Benign
9	121327232	G	T	G121327232T	GSN	NM_198252.3(GSN):c.1588-76G>T	noncoding	Benign
9	121327357	A	G	A121327357G	GSN	NM_198252.3(GSN):c.1637A>G:p.Lys546Arg	coding	Benign
9	121327493	G	A	G121327493A	GSN	NM_198252.3(GSN):c.1762+11G>A	noncoding	Benign
9	121328857	G	A	G121328857A	GSN	NM_198252.3(GSN):c.1763-34G>A	noncoding	Benign
9	121329026	G	T	G121329026T	GSN	NM_198252.3(GSN):c.1887+11G>T	noncoding	Benign
9	121329282	G	A	G121329282A	GSN	NM_198252.3(GSN):c.1932G>A:p.Thr644=	coding	Benign
9	121329507	G	A	G121329507A	GSN	NM_198252.3(GSN):c.1965+192G>A	noncoding	Benign
9	121331467	G	A	G121331467A	GSN	NM_198252.3(GSN):c.2026+19G>A	noncoding	Benign
9	121331484	T	C	T121331484C	GSN	NM_198252.3(GSN):c.2026+36T>C	noncoding	Benign
9	121332312	A	T	A121332312T	GSN	NM_198252.3(GSN):c.2027-122A>T	noncoding	Benign
9	122148200	C	A	C122148200A	NDUFA8	NM_014222.3(NDUFA8):c.293G>T:p.Arg98Leu	coding	Pathogenic
9	122152321	G	A	G122152321A	NDUFA8	NM_014222.3(NDUFA8):c.139C>T:p.Arg47Cys	coding	Pathogenic
9	122377927	G	A	G122377927A	PTGS1	NM_000962.4(PTGS1):c.123G>A:p.Gln41=	coding	Benign
9	123356133	G	A	G123356133A	CRB2	Single_allele	noncoding	Benign
9	123356192	G	T	G123356192T	CRB2	Single_allele	noncoding	Benign
9	123356321	C	T	C123356321T	CRB2	NM_173689.7(CRB2):c.61C>T:p.Leu21=	coding	Benign
9	123356641	G	C	G123356641C	CRB2	NM_173689.7(CRB2):c.94+287G>C	noncoding	Benign
9	123362696	T	C	T123362696C	CRB2	NM_173689.7(CRB2):c.95-169T>C	noncoding	Benign
9	123363039	C	A	C123363039A	CRB2	NM_173689.7(CRB2):c.269C>A:p.Thr90Asn	coding	Benign
9	123363085	C	A	C123363085A	CRB2	NM_173689.7(CRB2):c.315C>A:p.Cys105Ter	coding	Pathogenic
9	123363449	T	G	T123363449G	CRB2	NM_173689.7(CRB2):c.418+261T>G	noncoding	Benign
9	123365719	A	G	A123365719G	CRB2	NM_173689.7(CRB2):c.419-198A>G	noncoding	Benign
9	123365901	C	A	C123365901A	CRB2	NM_173689.7(CRB2):c.419-16C>A	noncoding	Benign
9	123365932	T	C	T123365932C	CRB2	NM_173689.7(CRB2):c.434T>C:p.Met145Thr	coding	Benign
9	123365974	G	C	G123365974C	CRB2	NM_173689.7(CRB2):c.476G>C:p.Gly159Ala	coding	Benign
9	123366125	C	T	C123366125T	CRB2	NM_173689.7(CRB2):c.614+13C>T	noncoding	Benign/Likely_benign
9	123366375	G	A	G123366375A	CRB2	NM_173689.7(CRB2):c.754+9G>A	noncoding	Benign
9	123366400	G	C	G123366400C	CRB2	NM_173689.7(CRB2):c.754+34G>C	noncoding	Benign
9	123366681	G	A	G123366681A	CRB2	NM_173689.7(CRB2):c.754+315G>A	noncoding	Benign
9	123366867	C	T	C123366867T	CRB2	NM_173689.7(CRB2):c.755-305C>T	noncoding	Benign
9	123367072	G	A	G123367072A	CRB2	NM_173689.7(CRB2):c.755-100G>A	noncoding	Benign
9	123367102	C	G	C123367102G	CRB2	NM_173689.7(CRB2):c.755-70C>G	noncoding	Benign
9	123367153	C	T	C123367153T	CRB2	NM_173689.7(CRB2):c.755-19C>T	noncoding	Benign
9	123367171	G	A	G123367171A	CRB2	NM_173689.7(CRB2):c.755-1G>A	noncoding	Pathogenic
9	123367182	C	T	C123367182T	CRB2	NM_173689.7(CRB2):c.765C>T:p.Gly255=	coding	Benign
9	123367373	G	C	G123367373C	CRB2	NM_173689.7(CRB2):c.940+16G>C	noncoding	Benign
9	123367412	C	G	C123367412G	CRB2	NM_173689.7(CRB2):c.940+55C>G	noncoding	Benign
9	123367429	A	C	A123367429C	CRB2	NM_173689.7(CRB2):c.940+72A>C	noncoding	Benign
9	123367578	G	A	G123367578A	CRB2	NM_173689.7(CRB2):c.946G>A:p.Asp316Asn	coding	Benign
9	123367625	C	T	C123367625T	CRB2	NM_173689.7(CRB2):c.993C>T:p.Asn331=	coding	Benign
9	123367863	T	C	T123367863C	CRB2	NM_173689.7(CRB2):c.1054+177T>C	noncoding	Benign
9	123370050	T	C	T123370050C	CRB2	NM_173689.7(CRB2):c.1055-58T>C	noncoding	Benign
9	123370095	G	A	G123370095A	CRB2	NM_173689.7(CRB2):c.1055-13G>A	noncoding	Benign
9	123370640	G	A	G123370640A	CRB2	NM_173689.7(CRB2):c.1587G>A:p.Ala529=	coding	Benign
9	123370880	C	A	C123370880A	CRB2	NM_173689.7(CRB2):c.1827C>A:p.Cys609Ter	coding	Pathogenic
9	123370973	C	A	C123370973A	CRB2	NM_173689.7(CRB2):c.1920C>A:p.Cys640Ter	coding	Pathogenic
9	123370973	C	T	C123370973T	CRB2	NM_173689.7(CRB2):c.1920C>T:p.Cys640=	coding	Benign
9	123371218	C	T	C123371218T	CRB2	NM_173689.7(CRB2):c.2076C>T:p.Ser692=	coding	Benign
9	123371268	T	C	T123371268C	CRB2	NM_173689.7(CRB2):c.2126T>C:p.Val709Ala	coding	Benign
9	123371502	C	G	C123371502G	CRB2	NM_173689.7(CRB2):c.2360C>G:p.Ser787Ter	coding	Pathogenic
9	123371759	C	T	C123371759T	CRB2	NM_173689.7(CRB2):c.2436+181C>T	noncoding	Benign
9	123371763	C	A	C123371763A	CRB2	NM_173689.7(CRB2):c.2436+185C>A	noncoding	Benign
9	123371953	G	T	G123371953T	CRB2	NM_173689.7(CRB2):c.2437-224G>T	noncoding	Benign
9	123372263	G	A	G123372263A	CRB2	NM_173689.7(CRB2):c.2523G>A:p.Thr841=	coding	Benign
9	123373199	G	A	G123373199A	CRB2	NM_173689.7(CRB2):c.2668G>A:p.Gly890Arg	coding	Benign/Likely_benign
9	123373211	G	A	G123373211A	CRB2	NM_173689.7(CRB2):c.2680G>A:p.Gly894Ser	coding	Benign
9	123373348	G	C	G123373348C	CRB2	NM_173689.7(CRB2):c.2817G>C:p.Leu939=	coding	Benign/Likely_benign
9	123373436	A	G	A123373436G	CRB2	NM_173689.7(CRB2):c.2905A>G:p.Thr969Ala	coding	Benign
9	123373492	C	T	C123373492T	CRB2	NM_173689.7(CRB2):c.2961C>T:p.Arg987=	coding	Benign
9	123373552	T	C	T123373552C	CRB2	NM_173689.7(CRB2):c.3021T>C:p.Ala1007=	coding	Benign
9	123373657	G	C	G123373657C	CRB2	NM_173689.7(CRB2):c.3126G>C:p.Ala1042=	coding	Benign
9	123373860	C	T	C123373860T	CRB2	NM_173689.7(CRB2):c.3329C>T:p.Thr1110Met	coding	Benign
9	123373968	A	G	A123373968G	CRB2	NM_173689.7(CRB2):c.3389+48A>G	noncoding	Benign
9	123374183	T	C	T123374183C	CRB2	NM_173689.7(CRB2):c.3389+263T>C	noncoding	Benign
9	123374344	G	C	G123374344C	CRB2	NM_173689.7(CRB2):c.3390-235G>C	noncoding	Benign
9	123374806	T	A	T123374806A	CRB2	NM_173689.7(CRB2):c.3506+111T>A	noncoding	Benign
9	123375084	C	T	C123375084T	CRB2	NM_173689.7(CRB2):c.3507-133C>T	noncoding	Benign
9	123375203	C	A	C123375203A	CRB2	NM_173689.7(CRB2):c.3507-14C>A	noncoding	Benign/Likely_benign
9	123375360	G	T	G123375360T	CRB2	NM_173689.7(CRB2):c.3633+17G>T	noncoding	Benign
9	123375397	G	A	G123375397A	CRB2	NM_173689.7(CRB2):c.3633+54G>A	noncoding	Benign
9	123375567	A	G	A123375567G	CRB2	NM_173689.7(CRB2):c.3633+224A>G	noncoding	Benign
9	123375586	C	G	C123375586G	CRB2	NM_173689.7(CRB2):c.3633+243C>G	noncoding	Benign
9	123376639	C	T	C123376639T	CRB2	NM_173689.7(CRB2):c.3634-199C>T	noncoding	Benign
9	123376682	T	C	T123376682C	CRB2	NM_173689.7(CRB2):c.3634-156T>C	noncoding	Benign
9	123376786	G	A	G123376786A	CRB2	NM_173689.7(CRB2):c.3634-52G>A	noncoding	Benign
9	123376824	C	T	C123376824T	CRB2	NM_173689.7(CRB2):c.3634-14C>T	noncoding	Benign
9	124482921	T	G	T124482921G	NR5A1	NM_004959.5(NR5A1):c.1223A>C:p.His408Pro	coding	Pathogenic
9	124483117	A	G	A124483117G	NR5A1	NM_004959.5(NR5A1):c.1139-112T>C	noncoding	Benign
9	124483133	C	T	C124483133T	NR5A1	NM_004959.5(NR5A1):c.1139-128G>A	noncoding	Benign
9	124483250	A	G	A124483250G	NR5A1	NM_004959.5(NR5A1):c.1139-245T>C	noncoding	Benign
9	124483279	C	G	C124483279G	NR5A1	NM_004959.5(NR5A1):c.1139-274G>C	noncoding	Benign
9	124491037	G	C	G124491037C	NR5A1	NM_004959.5(NR5A1):c.1138+44C>G	noncoding	Benign
9	124491040	T	C	T124491040C	NR5A1	NM_004959.5(NR5A1):c.1138+41A>G	noncoding	Benign
9	124491167	G	A	G124491167A	NR5A1	NM_004959.5(NR5A1):c.1052C>T:p.Ala351Val	coding	Pathogenic
9	124491171	G	A	G124491171A	NR5A1	NM_004959.5(NR5A1):c.1048C>T:p.Arg350Trp	coding	Pathogenic
9	124491229	C	G	C124491229G	NR5A1	NM_004959.5(NR5A1):c.991-1G>C	coding	Pathogenic
9	124493037	C	A	C124493037A	NR5A1	NM_004959.5(NR5A1):c.983G>T:p.Gly328Val	coding	Pathogenic
9	124493062	C	A	C124493062A	NR5A1	NM_004959.5(NR5A1):c.958G>T:p.Glu320Ter	coding	Pathogenic
9	124493125	G	A	G124493125A	NR5A1	NM_004959.5(NR5A1):c.895C>T:p.Gln299Ter	coding	Pathogenic
9	124493162	G	A	G124493162A	NR5A1	NM_004959.5(NR5A1):c.871-13C>T	noncoding	Benign
9	124493169	G	A	G124493169A	NR5A1	NM_004959.5(NR5A1):c.871-20C>T	noncoding	Benign
9	124500183	C	T	C124500183T	NR5A1	NM_004959.5(NR5A1):c.777G>A:p.Pro259=	coding	Benign
9	124500327	G	A	G124500327A	NR5A1	NM_004959.5(NR5A1):c.633C>T:p.Tyr211=	coding	Benign/Likely_benign
9	124500701	G	A	G124500701A	NR5A1	NM_004959.5(NR5A1):c.259C>T:p.Arg87Cys	coding	Pathogenic
9	124500805	G	A	G124500805A	NR5A1	NM_004959.5(NR5A1):c.245-90C>T	noncoding	Benign
9	124503007	C	A	C124503007A	NR5A1	NM_004959.5(NR5A1):c.244+72G>T	noncoding	Benign
9	124503078	C	A	C124503078A	NR5A1	NM_004959.5(NR5A1):c.244+1G>T	noncoding	Pathogenic
9	124503105	C	T	C124503105T	NR5A1	NM_004959.5(NR5A1):c.218G>A:p.Cys73Tyr	coding	Pathogenic
9	124503219	C	T	C124503219T	NR5A1	NM_004959.5(NR5A1):c.104G>A:p.Gly35Asp	coding	Pathogenic
9	124503299	A	T	A124503299T	NR5A1	NM_004959.5(NR5A1):c.97T>A:p.Cys33Ser	coding	Pathogenic
9	124503321	G	C	G124503321C	NR5A1	NM_004959.5(NR5A1):c.75C>G:p.Tyr25Ter	coding	Pathogenic
9	124503377	C	A	C124503377A	NR5A1	NM_004959.5(NR5A1):c.19G>T:p.Glu7Ter	coding	Pathogenic
9	124503385	G	T	G124503385T	NR5A1	NM_004959.5(NR5A1):c.11C>A:p.Ser4Ter	coding	Pathogenic
9	124503498	C	A	C124503498A	NR5A1	NM_004959.5(NR5A1):c.-15-88G>T	noncoding	Benign
9	124857862	A	G	A124857862G	RPL35	NM_001045476.3(WDR38):c.*232A>G	noncoding	Benign
9	124861577	C	G	C124861577G	RPL35	NM_007209.4(RPL35):c.4-22G>C	noncoding	Benign
9	124862127	C	T	C124862127T	RPL35	Single_allele	noncoding	Benign
9	125302394	T	G	T125302394G	GAPVD1	NM_001282680.3(GAPVD1):c.597T>G:p.Thr199=	coding	Benign
9	125305017	T	C	T125305017C	GAPVD1	NM_001282680.3(GAPVD1):c.1030-46T>C	noncoding	Benign
9	125305140	G	A	G125305140A	GAPVD1	NM_001282680.3(GAPVD1):c.1107G>A:p.Lys369=	coding	Benign
9	125307424	C	A	C125307424A	GAPVD1	NM_001282680.3(GAPVD1):c.1128C>A:p.Ala376=	coding	Benign
9	125307598	G	A	G125307598A	GAPVD1	NM_001282680.3(GAPVD1):c.1251+51G>A	noncoding	Benign
9	125307948	G	C	G125307948C	GAPVD1	NM_001282680.3(GAPVD1):c.1441+68G>C	noncoding	Benign
9	125321310	A	C	A125321310C	GAPVD1	NM_001282680.3(GAPVD1):c.1603-123A>C	noncoding	Benign
9	125323754	T	C	T125323754C	GAPVD1	NM_001282680.3(GAPVD1):c.1733-44T>C	noncoding	Benign
9	125350617	G	A	G125350617A	GAPVD1	NM_001282680.3(GAPVD1):c.3410-96G>A	noncoding	Benign
9	125354538	A	G	A125354538G	GAPVD1	NM_001282680.3(GAPVD1):c.3570-116A>G	noncoding	Benign
9	125359313	A	G	A125359313G	GAPVD1	NM_001282680.3(GAPVD1):c.3972-107A>G	noncoding	Benign
9	125362519	A	T	A125362519T	GAPVD1	NM_001282680.3(GAPVD1):c.4243-87A>T	noncoding	Benign
9	125644709	G	C	G125644709C	MAPKAP1	NM_001006617.3(MAPKAP1):c.498+12942C>G	noncoding	Benign
9	126614607	C	T	C126614607T	LMX1B	NM_001174147.2(LMX1B):c.139+19C>T	noncoding	Benign/Likely_benign
9	126614797	C	T	C126614797T	LMX1B	NM_001174147.2(LMX1B):c.139+209C>T	noncoding	Benign
9	126614883	G	A	G126614883A	LMX1B	NM_001174147.2(LMX1B):c.139+295G>A	noncoding	Benign
9	126615117	A	G	A126615117G	LMX1B	NM_001174147.2(LMX1B):c.140-266A>G	noncoding	Benign
9	126615421	C	T	C126615421T	LMX1B	NM_001174147.2(LMX1B):c.178C>T:p.Gln60Ter	coding	Pathogenic
9	126615451	C	T	C126615451T	LMX1B	NM_001174147.2(LMX1B):c.208C>T:p.Arg70Ter	coding	Pathogenic
9	126615528	C	G	C126615528G	LMX1B	NM_001174147.2(LMX1B):c.285C>G:p.Tyr95Ter	coding	Pathogenic
9	126615538	C	A	C126615538A	LMX1B	NM_001174147.2(LMX1B):c.295C>A:p.Arg99=	coding	Benign/Likely_benign
9	126615564	C	G	C126615564G	LMX1B	NM_001174147.2(LMX1B):c.321C>G:p.Tyr107Ter	coding	Pathogenic
9	126615568	C	T	C126615568T	LMX1B	NM_001174147.2(LMX1B):c.325C>T:p.Gln109Ter	coding	Pathogenic
9	126615570	G	C	G126615570C	LMX1B	NM_001174147.2(LMX1B):c.326+1G>C	coding	Pathogenic
9	126615747	G	C	G126615747C	LMX1B	NM_001174147.2(LMX1B):c.326+178G>C	noncoding	Benign
9	126662440	A	G	A126662440G	LMX1B	NM_001174147.2(LMX1B):c.327-28396A>G	noncoding	Benign
9	126690498	A	G	A126690498G	LMX1B	NM_001174147.2(LMX1B):c.327-338A>G	noncoding	Benign
9	126690518	A	G	A126690518G	LMX1B	NM_001174147.2(LMX1B):c.327-318A>G	noncoding	Benign
9	126690553	T	A	T126690553A	LMX1B	NM_001174147.2(LMX1B):c.327-283T>A	noncoding	Benign
9	126690563	G	A	G126690563A	LMX1B	NM_001174147.2(LMX1B):c.327-273G>A	noncoding	Benign
9	126690834	A	G	A126690834G	LMX1B	NM_001174147.2(LMX1B):c.327-2A>G	noncoding	Pathogenic
9	126690890	C	T	C126690890T	LMX1B	NM_001174147.2(LMX1B):c.381C>T:p.Phe127=	coding	Benign/Likely_benign
9	126690928	G	T	G126690928T	LMX1B	NM_001174147.2(LMX1B):c.419G>T:p.Cys140Phe	coding	Pathogenic
9	126690954	C	T	C126690954T	LMX1B	NM_001174147.2(LMX1B):c.445C>T:p.Gln149Ter	coding	Pathogenic
9	126690993	C	T	C126690993T	LMX1B	NM_001174147.2(LMX1B):c.484C>T:p.Gln162Ter	coding	Pathogenic
9	126693093	C	T	C126693093T	LMX1B	NM_001174147.2(LMX1B):c.560-49C>T	noncoding	Benign
9	126693152	G	A	G126693152A	LMX1B	NM_001174147.2(LMX1B):c.570G>A:p.Glu190=	coding	Benign
9	126693230	G	A	G126693230A	LMX1B	NM_001174147.2(LMX1B):c.648G>A:p.Pro216=	coding	Benign
9	126693321	A	T	A126693321T	LMX1B	NM_001174147.2(LMX1B):c.739A>T:p.Lys247Ter	coding	Pathogenic
9	126693339	G	T	G126693339T	LMX1B	NM_001174147.2(LMX1B):c.741+16G>T	noncoding	Benign
9	126693530	G	T	G126693530T	LMX1B	NM_001174147.2(LMX1B):c.748G>T:p.Glu250Ter	coding	Pathogenic
9	126693566	G	A	G126693566A	LMX1B	NM_001174147.2(LMX1B):c.784G>A:p.Val262Met	coding	Pathogenic/Likely_pathogenic
9	126693603	T	G	T126693603G	LMX1B	NM_001174147.2(LMX1B):c.819+2T>G	noncoding	Pathogenic
9	126693770	C	T	C126693770T	LMX1B	NM_001174147.2(LMX1B):c.844C>T:p.Gln282Ter	coding	Pathogenic
9	126693796	C	A	C126693796A	LMX1B	NM_001174147.2(LMX1B):c.870C>A:p.Ser290=	coding	Benign
9	126693840	G	A	G126693840A	LMX1B	NM_001174147.2(LMX1B):c.886+28G>A	coding	Benign/Likely_benign
9	126695813	G	T	G126695813T	LMX1B	NM_001174147.2(LMX1B):c.887-26G>T	noncoding	Benign
9	126696022	A	C	A126696022C	LMX1B	NM_001174147.2(LMX1B):c.1051+19A>C	noncoding	Benign
9	126696026	G	C	G126696026C	LMX1B	NM_001174147.2(LMX1B):c.1051+23G>C	noncoding	Benign
9	126696030	G	C	G126696030C	LMX1B	NM_001174147.2(LMX1B):c.1051+27G>C	noncoding	Benign
9	127454968	A	C	A127454968C	LRSAM1	NM_001005373.4(LRSAM1):c.73-30A>C	noncoding	Benign
9	127461233	C	T	C127461233T	LRSAM1	NM_001005373.4(LRSAM1):c.382C>T:p.Gln128Ter	coding	Pathogenic
9	127461281	G	A	G127461281A	LRSAM1	NM_001005373.4(LRSAM1):c.406+24G>A	noncoding	Benign
9	127461543	G	A	G127461543A	LRSAM1	NM_001005373.4(LRSAM1):c.406+286G>A	noncoding	Benign
9	127462314	A	G	A127462314G	LRSAM1	NM_001005373.4(LRSAM1):c.469A>G:p.Ile157Val	coding	Benign/Likely_benign
9	127462506	G	C	G127462506C	LRSAM1	NM_001005373.4(LRSAM1):c.528+133G>C	noncoding	Benign
9	127467780	G	A	G127467780A	LRSAM1	NM_001005373.4(LRSAM1):c.569G>A:p.Arg190Gln	coding	Benign/Likely_benign
9	127478687	A	C	A127478687C	LRSAM1	NM_001005373.4(LRSAM1):c.751-247A>C	noncoding	Benign
9	127479043	G	T	G127479043T	LRSAM1	NM_001005373.4(LRSAM1):c.780+80G>T	noncoding	Benign
9	127479900	A	G	A127479900G	LRSAM1	NM_001005373.4(LRSAM1):c.965A>G:p.Gln322Arg	coding	Benign/Likely_benign
9	127479923	C	T	C127479923T	LRSAM1	NM_001005373.4(LRSAM1):c.988C>T:p.Gln330Ter	coding	Pathogenic
9	127481567	G	A	G127481567A	LRSAM1	NM_001005373.4(LRSAM1):c.1088+340G>A	noncoding	Benign
9	127483005	C	T	C127483005T	LRSAM1	NM_001005373.4(LRSAM1):c.1144C>T:p.Arg382Ter	coding	Pathogenic
9	127485611	G	T	G127485611T	LRSAM1	NM_001005373.4(LRSAM1):c.1160-125G>T	noncoding	Benign
9	127487683	G	T	G127487683T	LRSAM1	NM_001005373.4(LRSAM1):c.1267G>T:p.Glu423Ter	coding	Pathogenic
9	127489410	G	A	G127489410A	LRSAM1	NM_001005373.4(LRSAM1):c.1348-34G>A	noncoding	Benign
9	127501144	G	T	G127501144T	LRSAM1	NM_001005373.4(LRSAM1):c.2046+1G>T	coding	Pathogenic
9	127502816	C	T	C127502816T	LRSAM1	NM_001005373.4(LRSAM1):c.2089C>T:p.Gln697Ter	coding	Pathogenic
9	127612382	G	C	G127612382C	STXBP1	NM_001032221.6(STXBP1):c.-22G>C	noncoding	Benign
9	127612441	G	A	G127612441A	STXBP1	NM_001032221.6(STXBP1):c.37+1G>A	coding	Pathogenic
9	127612441	G	C	G127612441C	STXBP1	NM_001032221.6(STXBP1):c.37+1G>C	coding	Pathogenic
9	127651647	T	G	T127651647G	STXBP1	NM_001032221.6(STXBP1):c.82T>G:p.Trp28Gly	coding	Pathogenic
9	127653662	C	T	C127653662T	STXBP1	NM_001032221.6(STXBP1):c.88-53C>T	noncoding	Benign
9	127653749	T	G	T127653749G	STXBP1	NM_001032221.6(STXBP1):c.122T>G:p.Leu41Arg	coding	Pathogenic
9	127653831	G	C	G127653831C	STXBP1	NM_001032221.6(STXBP1):c.169+35G>C	noncoding	Benign
9	127658327	G	A	G127658327A	STXBP1	NM_001032221.6(STXBP1):c.170-48G>A	noncoding	Benign
9	127658380	G	A	G127658380A	STXBP1	NM_001032221.6(STXBP1):c.175G>A:p.Glu59Lys	coding	Pathogenic
9	127658430	T	G	T127658430G	STXBP1	NM_001032221.6(STXBP1):c.225T>G:p.Tyr75Ter	coding	Pathogenic
9	127660007	C	T	C127660007T	STXBP1	NM_001032221.6(STXBP1):c.247-23C>T	noncoding	Benign
9	127660020	C	G	C127660020G	STXBP1	NM_001032221.6(STXBP1):c.247-10C>G	noncoding	Benign
9	127660112	A	T	A127660112T	STXBP1	NM_001032221.6(STXBP1):c.325+4A>T	noncoding	Pathogenic
9	127663209	A	G	A127663209G	STXBP1	NM_001032221.6(STXBP1):c.434A>G:p.Tyr145Cys	coding	Pathogenic/Likely_pathogenic
9	127663239	G	A	G127663239A	STXBP1	NM_001032221.6(STXBP1):c.464G>A:p.Ser155Asn	coding	Benign
9	127663498	C	T	C127663498T	STXBP1	NM_001032221.6(STXBP1):c.578+145C>T	noncoding	Benign
9	127665247	G	A	G127665247A	STXBP1	NM_001032221.6(STXBP1):c.579G>A:p.Gly193=	coding	Benign
9	127665284	C	T	C127665284T	STXBP1	NM_001032221.6(STXBP1):c.616C>T:p.Gln206Ter	coding	Pathogenic
9	127665336	G	A	G127665336A	STXBP1	NM_001032221.6(STXBP1):c.663+5G>A	noncoding	Pathogenic
9	127665373	C	T	C127665373T	STXBP1	NM_001032221.6(STXBP1):c.663+42C>T	noncoding	Benign
9	127666317	C	T	C127666317T	STXBP1	NM_001032221.6(STXBP1):c.794+21C>T	noncoding	Benign
9	127668039	T	C	T127668039C	STXBP1	NM_001032221.6(STXBP1):c.795-41T>C	noncoding	Benign
9	127668042	A	G	A127668042G	STXBP1	NM_001032221.6(STXBP1):c.795-38A>G	noncoding	Benign
9	127668078	A	C	A127668078C	STXBP1	NM_001032221.6(STXBP1):c.795-2A>C	noncoding	Pathogenic
9	127668079	G	A	G127668079A	STXBP1	NM_001032221.6(STXBP1):c.795-1G>A	noncoding	Pathogenic
9	127668221	G	A	G127668221A	STXBP1	NM_001032221.6(STXBP1):c.902+34G>A	noncoding	Benign
9	127668325	C	T	C127668325T	STXBP1	NM_001032221.6(STXBP1):c.902+138C>T	noncoding	Benign
9	127669960	T	C	T127669960C	STXBP1	NM_001032221.6(STXBP1):c.963+2T>C	noncoding	Pathogenic
9	127673259	C	T	C127673259T	STXBP1	NM_001032221.6(STXBP1):c.1108C>T:p.Gln370Ter	coding	Pathogenic
9	127675802	A	G	A127675802G	STXBP1	NM_001032221.6(STXBP1):c.1111-2A>G	noncoding	Pathogenic
9	127675895	C	T	C127675895T	STXBP1	NM_001032221.6(STXBP1):c.1202C>T:p.Thr401Ile	coding	Benign
9	127675942	G	C	G127675942C	STXBP1	NM_001032221.6(STXBP1):c.1249G>C:p.Gly417Arg	coding	Pathogenic
9	127676164	G	A	G127676164A	STXBP1	NM_001032221.6(STXBP1):c.1249+222G>A	noncoding	Benign
9	127676624	C	T	C127676624T	STXBP1	NM_001032221.6(STXBP1):c.1250-20C>T	noncoding	Benign/Likely_benign
9	127676637	C	T	C127676637T	STXBP1	NM_001032221.6(STXBP1):c.1250-7C>T	noncoding	Benign/Likely_benign
9	127676735	C	T	C127676735T	STXBP1	NM_001032221.6(STXBP1):c.1341C>T:p.Gly447=	coding	Benign/Likely_benign
9	127676756	A	C	A127676756C	STXBP1	NM_001032221.6(STXBP1):c.1359+3A>C	noncoding	Pathogenic
9	127678490	C	A	C127678490A	STXBP1	NM_001032221.6(STXBP1):c.1419C>A:p.Tyr473Ter	coding	Pathogenic
9	127680155	A	G	A127680155G	STXBP1	NM_001032221.6(STXBP1):c.1462-2A>G	noncoding	Pathogenic
9	127680198	T	A	T127680198A	STXBP1	NM_001032221.6(STXBP1):c.1503T>A:p.Tyr501Ter	coding	Pathogenic
9	127682428	A	T	A127682428T	STXBP1	NM_001032221.6(STXBP1):c.1570A>T:p.Lys524Ter	coding	Pathogenic
9	127682443	G	A	G127682443A	STXBP1	NM_001032221.6(STXBP1):c.1585G>A:p.Gly529Ser	coding	Benign
9	127682513	G	A	G127682513A	STXBP1	NM_001032221.6(STXBP1):c.1655G>A:p.Cys552Tyr	coding	Pathogenic
9	127682591	C	T	C127682591T	STXBP1	NM_001032221.6(STXBP1):c.1702+31C>T	noncoding	Benign
9	127683961	C	T	C127683961T	STXBP1	NM_001032221.6(STXBP1):c.1702+1401C>T	noncoding	Benign
9	127684437	C	G	C127684437G	STXBP1	NM_003165.6(STXBP1):c.1772C>G:p.Ser591Cys	coding	Benign
9	127684469	A	G	A127684469G	STXBP1	NM_003165.6(STXBP1):c.1804A>G:p.Met602Val	coding	Benign/Likely_benign
9	127690698	T	C	T127690698C	STXBP1	NM_001032221.6(STXBP1):c.1703-77T>C	coding	Benign
9	127690779	C	T	C127690779T	STXBP1	NM_001032221.6(STXBP1):c.1707C>T:p.Ser569=	coding	Benign
9	127690798	C	T	C127690798T	STXBP1	NM_001032221.6(STXBP1):c.1726C>T:p.Gln576Ter	coding	Pathogenic
9	127802988	A	G	A127802988G	FPGS	NM_004957.6(FPGS):c.64A>G:p.Ile22Val	coding	Benign
9	127815251	A	C	A127815251C	ENG	NM_001114753.3(ENG):c.*431T>G	noncoding	Benign
9	127816066	G	A	G127816066A	ENG	NM_001114753.3(ENG):c.1742-13C>T	noncoding	Benign
9	127816346	G	A	G127816346A	ENG	NM_001114753.3(ENG):c.1742-293C>T	noncoding	Benign
9	127816921	C	G	C127816921G	ENG	NM_001114753.3(ENG):c.1741+228G>C	noncoding	Benign
9	127817203	C	A	C127817203A	ENG	NM_001114753.3(ENG):c.1687G>T:p.Glu563Ter	coding	Pathogenic
9	127817205	T	C	T127817205C	ENG	NM_001114753.3(ENG):c.1687-2A>G	noncoding	Pathogenic
9	127817814	T	C	T127817814C	ENG	NM_001114753.3(ENG):c.1686+306A>G	noncoding	Benign
9	127817996	C	A	C127817996A	ENG	NM_001114753.3(ENG):c.1686+124G>T	noncoding	Benign
9	127818101	C	T	C127818101T	ENG	NM_001114753.3(ENG):c.1686+19G>A	noncoding	Benign
9	127818378	C	G	C127818378G	ENG	NM_001114753.3(ENG):c.1429-1G>C	coding	Pathogenic
9	127818378	C	T	C127818378T	ENG	NM_001114753.3(ENG):c.1429-1G>A	coding	Pathogenic/Likely_pathogenic
9	127818718	G	A	G127818718A	ENG	NM_001114753.3(ENG):c.1426C>T:p.Gln476Ter	coding	Pathogenic
9	127818737	C	T	C127818737T	ENG	NM_001114753.3(ENG):c.1407G>A:p.Pro469_Gly470=	coding	Benign/Likely_benign
9	127818833	C	G	C127818833G	ENG	NM_001114753.3(ENG):c.1312-1G>C	coding	Pathogenic/Likely_pathogenic
9	127819620	A	C	A127819620C	ENG	NM_001114753.3(ENG):c.1311+2T>G	noncoding	Pathogenic
9	127819620	A	T	A127819620T	ENG	NM_001114753.3(ENG):c.1311+2T>A	noncoding	Pathogenic
9	127819621	C	G	C127819621G	ENG	NM_001114753.3(ENG):c.1311+1G>C	noncoding	Pathogenic
9	127819632	G	C	G127819632C	ENG	NM_001114753.3(ENG):c.1301C>G:p.Ser434Ter	coding	Pathogenic
9	127819898	A	G	A127819898G	ENG;LOC102723566	NM_001114753.3(ENG):c.1272+2T>C	noncoding	Pathogenic
9	127820002	C	T	C127820002T	ENG	NM_001114753.3(ENG):c.1170G>A:p.Trp390Ter	coding	Pathogenic
9	127820026	G	T	G127820026T	ENG	NM_001114753.3(ENG):c.1146C>A:p.Cys382Ter	coding	Pathogenic
9	127824303	C	T	C127824303T	ENG	NM_001114753.3(ENG):c.1134+1G>A	noncoding	Pathogenic
9	127824435	G	A	G127824435A	ENG	NM_001114753.3(ENG):c.1003C>T:p.Gln335Ter	coding	Pathogenic
9	127824799	C	G	C127824799G	ENG	NM_001114753.3(ENG):c.991+1G>C	noncoding	Pathogenic
9	127824801	G	T	G127824801T	ENG	NM_001114753.3(ENG):c.990C>A:p.Cys330Ter	coding	Pathogenic
9	127824868	G	T	G127824868T	ENG	NM_001114753.3(ENG):c.923C>A:p.Ala308Asp	coding	Pathogenic/Likely_pathogenic
9	127825219	C	T	C127825219T	ENG	NM_001114753.3(ENG):c.816+12G>A	noncoding	Benign
9	127825241	A	C	A127825241C	ENG	NM_001114753.3(ENG):c.806T>G:p.Met269Arg	coding	Pathogenic
9	127825358	C	G	C127825358G	ENG	NM_001114753.3(ENG):c.690-1G>C	coding	Pathogenic
9	127825358	C	T	C127825358T	ENG	NM_001114753.3(ENG):c.690-1G>A	coding	Pathogenic/Likely_pathogenic
9	127825678	C	T	C127825678T	ENG	NM_001114753.3(ENG):c.689+17G>A	noncoding	Benign/Likely_benign
9	127825861	C	A	C127825861A	ENG	NM_001114753.3(ENG):c.524-1G>T	coding	Pathogenic
9	127825861	C	T	C127825861T	ENG	NM_001114753.3(ENG):c.524-1G>A	coding	Pathogenic
9	127825872	C	T	C127825872T	ENG	NM_001114753.3(ENG):c.524-12G>A	noncoding	Benign/Likely_benign
9	127826674	T	A	T127826674A	ENG	NM_001114753.3(ENG):c.361-2A>T	noncoding	Pathogenic
9	127826674	T	C	T127826674C	ENG	NM_001114753.3(ENG):c.361-2A>G	noncoding	Pathogenic
9	127829596	G	A	G127829596A	ENG	NM_001114753.3(ENG):c.360+91C>T	noncoding	Benign
9	127829682	C	G	C127829682G	ENG	NM_001114753.3(ENG):c.360+5G>C	noncoding	Pathogenic/Likely_pathogenic
9	127829682	C	T	C127829682T	ENG	NM_001114753.3(ENG):c.360+5G>A	noncoding	Pathogenic/Likely_pathogenic
9	127829757	A	C	A127829757C	ENG	NM_001114753.3(ENG):c.290T>G:p.Leu97Arg	coding	Pathogenic
9	127829775	C	T	C127829775T	ENG	NM_001114753.3(ENG):c.272G>A:p.Trp91Ter	coding	Pathogenic
9	127829812	C	A	C127829812A	ENG	NM_001114753.3(ENG):c.235G>T:p.Glu79Ter	coding	Pathogenic
9	127843092	A	G	A127843092G	ENG	NM_001114753.3(ENG):c.219+2T>C	noncoding	Pathogenic/Likely_pathogenic
9	127843164	G	T	G127843164T	ENG	NM_001114753.3(ENG):c.149C>A:p.Ser50Ter	coding	Pathogenic
9	127843192	C	A	C127843192A	ENG	NM_001114753.3(ENG):c.121G>T:p.Glu41Ter	coding	Pathogenic
9	127843205	G	A	G127843205A	ENG	NM_001114753.3(ENG):c.108C>T:p.Gly36_Pro37=	coding	Benign
9	127854287	A	G	A127854287G	ENG	NM_001114753.3(ENG):c.67+2T>C	noncoding	Pathogenic/Likely_pathogenic
9	127854333	A	G	A127854333G	ENG	NM_001114753.3(ENG):c.23T>C:p.Leu8Pro	coding	Pathogenic/Likely_pathogenic
9	127854353	C	A	C127854353A	ENG	NM_001114753.3(ENG):c.3G>T:p.Met1Ile	coding	Pathogenic
9	127854425	G	A	G127854425A	ENG	NM_001114753.3(ENG):c.-70C>T	noncoding	Benign/Likely_benign
9	127854541	C	T	C127854541T	ENG	NM_001114753.3(ENG):c.-186G>A	noncoding	Benign/Likely_benign
9	127854979	T	G	T127854979G	ENG	Single_allele	noncoding	Benign
9	127867954	G	T	G127867954T	AK1	NM_000476.3(AK1):c.*54C>A	noncoding	Benign
9	127868094	G	A	G127868094A	AK1	NM_000476.3(AK1):c.517-18C>T	noncoding	Benign
9	127868151	A	G	A127868151G	AK1	NM_000476.3(AK1):c.517-75T>C	noncoding	Benign
9	127871620	G	C	G127871620C	AK1	NM_000476.3(AK1):c.324+203C>G	noncoding	Benign
9	127871625	T	G	T127871625G	AK1	NM_000476.3(AK1):c.324+198A>C	noncoding	Benign
9	127871846	G	T	G127871846T	AK1	NM_000476.3(AK1):c.301C>A:p.Gln101Lys	coding	Pathogenic
9	127871901	G	C	G127871901C	AK1	NM_000476.3(AK1):c.246C>G:p.Ala82=	coding	Benign
9	127872665	T	C	T127872665C	AK1	NM_000476.3(AK1):c.207+25A>G	noncoding	Benign
9	127872795	G	A	G127872795A	AK1	NM_000476.3(AK1):c.102C>T:p.Tyr34=	coding	Benign/Likely_benign
9	127873261	A	G	A127873261G	AK1	NM_000476.3(AK1):c.8-200T>C	noncoding	Benign
9	127936576	C	T	C127936576T	DPM2	NM_003863.4(DPM2):c.173G>A:p.Gly58Asp	coding	Pathogenic
9	127936610	G	A	G127936610A	DPM2	NM_003863.4(DPM2):c.139C>T:p.Arg47Ter	coding	Pathogenic
9	127937463	T	C	T127937463C	DPM2	NM_003863.4(DPM2):c.64A>G:p.Thr22Ala	coding	Benign/Likely_benign
9	127937806	T	C	T127937806C	DPM2	NM_003863.4(DPM2):c.3+12A>G	noncoding	Benign/Likely_benign
9	128106391	G	C	G128106391C	SLC25A25	NM_001330988.2(SLC25A25):c.1083G>C:p.Gln361His	coding	Pathogenic
9	128166533	C	T	C128166533T	CIZ1	NM_001131016.2(CIZ1):c.2488-127G>A	noncoding	Benign
9	128167472	A	T	A128167472T	CIZ1	NM_001131016.2(CIZ1):c.2296-308T>A	noncoding	Benign
9	128168789	C	T	C128168789T	CIZ1	NM_001131016.2(CIZ1):c.2295+263G>A	noncoding	Benign
9	128169307	C	A	C128169307A	CIZ1	NM_001131016.2(CIZ1):c.2145+99G>T	noncoding	Benign
9	128169393	G	A	G128169393A	CIZ1	NM_001131016.2(CIZ1):c.2145+13C>T	noncoding	Benign
9	128170003	C	T	C128170003T	CIZ1	NM_001131016.2(CIZ1):c.2031+17G>A	noncoding	Benign
9	128176382	C	T	C128176382T	CIZ1	NM_001131016.2(CIZ1):c.1912G>A:p.Val638Met	coding	Benign
9	128177428	A	T	A128177428T	CIZ1	NM_001131016.2(CIZ1):c.1818+138T>A	noncoding	Benign
9	128177546	C	T	C128177546T	CIZ1	NM_001131016.2(CIZ1):c.1818+20G>A	noncoding	Benign
9	128177787	C	T	C128177787T	CIZ1	NM_001131016.2(CIZ1):c.1621-24G>A	noncoding	Benign
9	128177842	G	A	G128177842A	CIZ1	NM_001131016.2(CIZ1):c.1621-79C>T	noncoding	Benign
9	128178351	A	G	A128178351G	CIZ1	NM_001131016.2(CIZ1):c.1620+18T>C	noncoding	Benign
9	128178543	C	T	C128178543T	CIZ1	NM_001131016.2(CIZ1):c.1499-53G>A	noncoding	Benign
9	128179132	T	C	T128179132C	CIZ1	NM_001131016.2(CIZ1):c.1075A>G:p.Lys359Glu	coding	Benign
9	128179278	C	T	C128179278T	CIZ1	NM_001131016.2(CIZ1):c.929G>A:p.Arg310Gln	coding	Benign
9	128179412	T	G	T128179412G	CIZ1	NM_001131016.2(CIZ1):c.795A>C:p.Ser265=	coding	Benign
9	128179427	C	A	C128179427A	CIZ1	NM_001131016.2(CIZ1):c.792-12G>T	noncoding	Benign
9	128179462	C	G	C128179462G	CIZ1	NM_001131016.2(CIZ1):c.792-47G>C	noncoding	Benign
9	128180133	T	C	T128180133C	CIZ1	NM_001131016.2(CIZ1):c.791+282A>G	noncoding	Benign
9	128180162	C	T	C128180162T	CIZ1	NM_001131016.2(CIZ1):c.791+253G>A	noncoding	Benign
9	128180540	A	C	A128180540C	CIZ1	NM_001131016.2(CIZ1):c.683-17T>G	noncoding	Benign
9	128180693	T	C	T128180693C	CIZ1	NM_001131016.2(CIZ1):c.682+28A>G	noncoding	Benign
9	128180703	G	A	G128180703A	CIZ1	NM_001131016.2(CIZ1):c.682+18C>T	noncoding	Benign
9	128185354	T	C	T128185354C	CIZ1	NM_001131016.2(CIZ1):c.588+193A>G	noncoding	Benign
9	128186033	T	C	T128186033C	CIZ1	NM_001131016.2(CIZ1):c.359-257A>G	noncoding	Benign
9	128190129	T	C	T128190129C	CIZ1	NM_001131016.2(CIZ1):c.286+200A>G	noncoding	Benign
9	128190459	G	C	G128190459C	CIZ1	NM_001131016.2(CIZ1):c.171-15C>G	noncoding	Benign
9	128203260	A	G	A128203260G	DNM1	NM_012127.3(CIZ1):c.-6+926T>C	noncoding	Benign
9	128203554	C	T	C128203554T	DNM1	NM_004408.4(DNM1):c.84C>T:p.Asp28_Leu29=	coding	Benign
9	128218125	G	A	G128218125A	DNM1	NM_004408.4(DNM1):c.162-106G>A	noncoding	Benign
9	128218607	G	A	G128218607A	DNM1	NM_004408.4(DNM1):c.261G>A:p.Lys87=	coding	Benign/Likely_benign
9	128219077	C	T	C128219077T	DNM1	NM_004408.4(DNM1):c.414C>T:p.Pro138=	coding	Benign/Likely_benign
9	128219137	C	T	C128219137T	DNM1	NM_004408.4(DNM1):c.474C>T:p.Asp158=	coding	Benign/Likely_benign
9	128219986	A	G	A128219986G	DNM1	NM_004408.4(DNM1):c.590-2A>G	noncoding	Pathogenic
9	128222505	G	T	G128222505T	DNM1	NM_004408.4(DNM1):c.1037G>T:p.Gly346Val	coding	Pathogenic
9	128222515	T	G	T128222515G	DNM1	NM_004408.4(DNM1):c.1047T>G:p.Asp349Glu	coding	Benign
9	128222591	G	A	G128222591A	DNM1	NM_004408.4(DNM1):c.1123G>A:p.Val375Ile	coding	Benign
9	128222600	G	A	G128222600A	DNM1	NM_004408.4(DNM1):c.1128+4G>A	noncoding	Benign
9	128222607	C	G	C128222607G	DNM1	NM_004408.4(DNM1):c.1128+11C>G	noncoding	Benign
9	128224254	G	A	G128224254A	DNM1	NM_004408.4(DNM1):c.1200G>A:p.Thr400=	coding	Benign/Likely_benign
9	128224352	C	T	C128224352T	DNM1	NM_004408.4(DNM1):c.1298C>T:p.Ser433Leu	coding	Benign
9	128224369	G	A	G128224369A	DNM1	NM_004408.4(DNM1):c.1315G>A:p.Val439Ile	coding	Benign/Likely_benign
9	128224384	A	G	A128224384G	DNM1	NM_004408.4(DNM1):c.1330A>G:p.Lys444Glu	coding	Benign
9	128226027	G	A	G128226027A	DNM1	NM_004408.4(DNM1):c.1335+1638G>A	noncoding	Pathogenic/Likely_pathogenic
9	128234014	T	A	T128234014A	DNM1	NM_004408.4(DNM1):c.1336-7T>A	noncoding	Benign
9	128234060	A	G	A128234060G	DNM1	NM_004408.4(DNM1):c.1375A>G:p.Ile459Val	coding	Benign
9	128234086	C	T	C128234086T	DNM1	NM_004408.4(DNM1):c.1401C>T:p.Arg467=	coding	Benign
9	128239449	T	C	T128239449C	DNM1	NM_004408.4(DNM1):c.1427T>C:p.Met476Thr	coding	Benign
9	128240188	G	A	G128240188A	DNM1	NM_004408.4(DNM1):c.1557+192G>A	noncoding	Benign
9	128246200	A	G	A128246200G	DNM1	NM_004408.4(DNM1):c.1672-194A>G	noncoding	Benign
9	128246429	C	T	C128246429T	DNM1	NM_004408.4(DNM1):c.1707C>T:p.Asn569=	coding	Benign/Likely_benign
9	128246719	T	C	T128246719C	DNM1	NM_004408.4(DNM1):c.1781+216T>C	noncoding	Benign
9	128246720	T	C	T128246720C	DNM1	NM_004408.4(DNM1):c.1781+217T>C	noncoding	Benign
9	128247479	G	A	G128247479A	DNM1	NM_004408.4(DNM1):c.1886G>A:p.Arg629His	coding	Benign
9	128248447	A	G	A128248447G	DNM1	NM_004408.4(DNM1):c.1906-136A>G	noncoding	Benign
9	128248895	T	C	T128248895C	DNM1	NM_004408.4(DNM1):c.2076+142T>C	noncoding	Benign
9	128250835	G	T	G128250835T	DNM1	NM_004408.4(DNM1):c.2429G>T:p.Gly810Val	coding	Benign/Likely_benign
9	128250873	C	G	C128250873G	DNM1	NM_004408.4(DNM1):c.2467C>G:p.Pro823Ala	coding	Benign
9	128250873	C	T	C128250873T	DNM1	NM_004408.4(DNM1):c.2467C>T:p.Pro823Ser	coding	Benign
9	128265703	G	C	G128265703C	GOLGA2	NM_001366244.2(GOLGA2):c.827-12C>G	noncoding	Benign
9	128323094	G	C	G128323094C	COQ4	NM_016035.5(COQ4):c.149G>C:p.Gly50Ala	coding	Benign
9	128323147	G	A	G128323147A	COQ4	NM_016035.5(COQ4):c.202G>A:p.Asp68Asn	coding	Pathogenic
9	128325558	G	A	G128325558A	COQ4	NM_016035.5(COQ4):c.300-221G>A	noncoding	Benign
9	128325780	G	T	G128325780T	COQ4	NM_016035.5(COQ4):c.301G>T:p.Glu101Ter	coding	Pathogenic
9	128325784	G	A	G128325784A	COQ4	NM_016035.5(COQ4):c.305G>A:p.Arg102His	coding	Pathogenic
9	128325849	G	A	G128325849A	COQ4	NM_016035.5(COQ4):c.370G>A:p.Gly124Ser	coding	Pathogenic
9	128325935	G	A	G128325935A	COQ4	NM_016035.5(COQ4):c.402+54G>A	noncoding	Benign
9	128332894	C	T	C128332894T	COQ4	NM_016035.5(COQ4):c.577C>T:p.Pro193Ser	coding	Pathogenic
9	128345355	G	A	G128345355A	SLC27A4	NM_005094.4(SLC27A4):c.362G>A:p.Arg121Gln	coding	Benign
9	128348613	G	A	G128348613A	SLC27A4	NM_005094.4(SLC27A4):c.625G>A:p.Gly209Ser	coding	Benign/Likely_benign
9	128350294	C	A	C128350294A	SLC27A4	NM_005094.4(SLC27A4):c.716-18C>A	noncoding	Benign
9	128350297	G	A	G128350297A	SLC27A4	NM_005094.4(SLC27A4):c.716-15G>A	noncoding	Benign
9	128353006	A	G	A128353006G	SLC27A4	NM_005094.4(SLC27A4):c.988-19A>G	noncoding	Pathogenic
9	128353089	A	G	A128353089G	SLC27A4	NM_005094.4(SLC27A4):c.1052A>G:p.Asn351Ser	coding	Benign
9	128353425	G	A	G128353425A	SLC27A4	NM_005094.4(SLC27A4):c.1208G>A:p.Cys403Tyr	coding	Pathogenic
9	128355464	G	A	G128355464A	SLC27A4	NM_005094.4(SLC27A4):c.1529G>A:p.Arg510His	coding	Pathogenic
9	128355943	G	A	G128355943A	SLC27A4	NM_005094.4(SLC27A4):c.1774+147G>A	noncoding	Benign
9	128504933	C	G	C128504933G	GLE1	NM_001003722.2(GLE1):c.99+29C>G	noncoding	Benign
9	128504987	C	G	C128504987G	GLE1	NM_001003722.2(GLE1):c.99+83C>G	noncoding	Benign
9	128508929	G	A	G128508929A	GLE1	NM_001003722.2(GLE1):c.153G>A:p.Trp51Ter	coding	Pathogenic
9	128508998	G	A	G128508998A	GLE1	NM_001003722.2(GLE1):c.222G>A:p.Thr74=	coding	Benign
9	128525073	C	T	C128525073T	GLE1	NM_001003722.2(GLE1):c.898-119C>T	noncoding	Benign
9	128525231	C	T	C128525231T	GLE1	NM_001003722.2(GLE1):c.937C>T:p.Arg313Ter	coding	Pathogenic
9	128525677	C	T	C128525677T	GLE1	NM_001003722.2(GLE1):c.1129+254C>T	noncoding	Benign
9	128527215	G	A	G128527215A	GLE1	NM_001003722.2(GLE1):c.1166G>A:p.Trp389Ter	coding	Pathogenic
9	128527219	C	G	C128527219G	GLE1	NM_001003722.2(GLE1):c.1170C>G:p.Tyr390Ter	coding	Pathogenic
9	128533572	C	T	C128533572T	GLE1	NM_001003722.2(GLE1):c.1372C>T:p.Gln458Ter	coding	Pathogenic
9	128533611	C	T	C128533611T	GLE1	NM_001003722.2(GLE1):c.1411C>T:p.Gln471Ter	coding	Pathogenic
9	128536479	C	T	C128536479T	GLE1	NM_001003722.2(GLE1):c.1771C>T:p.Gln591Ter	coding	Pathogenic
9	128536727	A	G	A128536727G	GLE1	NM_001003722.2(GLE1):c.1776+243A>G	noncoding	Benign
9	128537789	A	G	A128537789G	GLE1	NM_001003722.2(GLE1):c.1777-197A>G	noncoding	Benign
9	128537864	G	A	G128537864A	GLE1	NM_001003722.2(GLE1):c.1777-122G>A	noncoding	Benign
9	128538260	T	C	T128538260C	GLE1	NM_001003722.2(GLE1):c.1881+170T>C	noncoding	Benign
9	128539372	T	C	T128539372C	GLE1	NM_001003722.2(GLE1):c.1882-244T>C	noncoding	Benign
9	128566720	C	T	C128566720T	SPTAN1	NM_001130438.3(SPTAN1):c.-3-18C>T	noncoding	Benign
9	128566988	T	G	T128566988G	SPTAN1	NM_001130438.3(SPTAN1):c.237+11T>G	noncoding	Benign
9	128574371	G	T	G128574371T	SPTAN1	NM_001130438.3(SPTAN1):c.364-304G>T	noncoding	Benign
9	128574727	G	A	G128574727A	SPTAN1	NM_001130438.3(SPTAN1):c.416G>A:p.Arg139Gln	coding	Benign/Likely_benign
9	128574820	G	A	G128574820A	SPTAN1	NM_001130438.3(SPTAN1):c.504+5G>A	noncoding	Benign
9	128575023	C	T	C128575023T	SPTAN1	NM_001130438.3(SPTAN1):c.505-176C>T	noncoding	Benign
9	128575185	T	C	T128575185C	SPTAN1	NM_001130438.3(SPTAN1):c.505-14T>C	noncoding	Benign/Likely_benign
9	128575382	A	C	A128575382C	SPTAN1	NM_001130438.3(SPTAN1):c.651+37A>C	noncoding	Benign
9	128575458	G	A	G128575458A	SPTAN1	NM_001130438.3(SPTAN1):c.651+113G>A	noncoding	Benign
9	128577112	G	T	G128577112T	SPTAN1	NM_001130438.3(SPTAN1):c.786-17G>T	noncoding	Benign/Likely_benign
9	128577428	G	A	G128577428A	SPTAN1	NM_001130438.3(SPTAN1):c.1007G>A:p.Arg336Gln	coding	Benign
9	128578027	A	G	A128578027G	SPTAN1	NM_001130438.3(SPTAN1):c.1086-83A>G	noncoding	Benign
9	128578360	T	C	T128578360C	SPTAN1	NM_001130438.3(SPTAN1):c.1221+115T>C	noncoding	Benign
9	128579364	G	A	G128579364A	SPTAN1	NM_001130438.3(SPTAN1):c.1222-273G>A	noncoding	Benign
9	128580909	C	G	C128580909G	SPTAN1	NM_001130438.3(SPTAN1):c.1324-13C>G	noncoding	Benign/Likely_benign
9	128580965	G	A	G128580965A	SPTAN1	NM_001130438.3(SPTAN1):c.1367G>A:p.Trp456Ter	coding	Pathogenic
9	128582100	A	T	A128582100T	SPTAN1	NM_001130438.3(SPTAN1):c.1572+208A>T	noncoding	Benign
9	128582299	G	A	G128582299A	SPTAN1	NM_001130438.3(SPTAN1):c.1573-180G>A	noncoding	Benign
9	128582731	T	C	T128582731C	SPTAN1	NM_001130438.3(SPTAN1):c.1688T>C:p.Met563Thr	coding	Benign/Likely_benign
9	128583104	C	T	C128583104T	SPTAN1	NM_001130438.3(SPTAN1):c.1834C>T:p.Gln612Ter	coding	Pathogenic
9	128583227	A	T	A128583227T	SPTAN1	NM_001130438.3(SPTAN1):c.1957A>T:p.Met653Leu	coding	Benign
9	128583375	A	G	A128583375G	SPTAN1	NM_001130438.3(SPTAN1):c.2011+94A>G	noncoding	Benign
9	128583801	T	C	T128583801C	SPTAN1	NM_001130438.3(SPTAN1):c.2025T>C:p.Arg675=	coding	Benign/Likely_benign
9	128583939	A	C	A128583939C	SPTAN1	NM_001130438.3(SPTAN1):c.2163A>C:p.Ala721=	coding	Benign
9	128584200	A	G	A128584200G	SPTAN1	NM_001130438.3(SPTAN1):c.2194-82A>G	noncoding	Benign
9	128584886	G	A	G128584886A	SPTAN1	NM_001130438.3(SPTAN1):c.2560+43G>A	noncoding	Benign
9	128585887	C	T	C128585887T	SPTAN1	NM_001130438.3(SPTAN1):c.2700C>T:p.Asn900=	coding	Benign/Likely_benign
9	128587494	G	A	G128587494A	SPTAN1	NM_001130438.3(SPTAN1):c.2779-112G>A	noncoding	Benign
9	128587833	A	G	A128587833G	SPTAN1	NM_001130438.3(SPTAN1):c.2871+135A>G	noncoding	Benign
9	128587926	A	C	A128587926C	SPTAN1	NM_001130438.3(SPTAN1):c.2871+228A>C	noncoding	Benign
9	128588767	G	A	G128588767A	SPTAN1	NM_001130438.3(SPTAN1):c.2872-42G>A	noncoding	Benign
9	128588825	C	T	C128588825T	SPTAN1	NM_001130438.3(SPTAN1):c.2888C>T:p.Thr963Met	coding	Benign/Likely_benign
9	128588922	C	T	C128588922T	SPTAN1	NM_001130438.3(SPTAN1):c.2985C>T:p.Thr995=	coding	Benign/Likely_benign
9	128591710	G	A	G128591710A	SPTAN1	NM_001130438.3(SPTAN1):c.3155+85G>A	noncoding	Benign
9	128592762	C	T	C128592762T	SPTAN1	NM_001130438.3(SPTAN1):c.3156-221C>T	noncoding	Benign
9	128592979	G	A	G128592979A	SPTAN1	NM_001130438.3(SPTAN1):c.3156-4G>A	noncoding	Benign/Likely_benign
9	128592983	G	A	G128592983A	SPTAN1	NM_001130438.3(SPTAN1):c.3156G>A:p.Gln1052=	coding	Benign/Likely_benign
9	128594194	C	G	C128594194G	SPTAN1	NM_001130438.3(SPTAN1):c.3235C>G:p.Leu1079Val	coding	Benign/Likely_benign
9	128594242	A	C	A128594242C	SPTAN1	NM_001130438.3(SPTAN1):c.3283A>C:p.Met1095Leu	coding	Benign
9	128598503	A	C	A128598503C	SPTAN1	NM_001130438.3(SPTAN1):c.3518A>C:p.Gln1173Pro	coding	Benign/Likely_benign
9	128603297	C	G	C128603297G	SPTAN1	NM_001130438.3(SPTAN1):c.3580-246C>G	noncoding	Benign
9	128607723	G	C	G128607723C	SPTAN1	NM_001130438.3(SPTAN1):c.4146+20G>C	noncoding	Benign
9	128607988	C	G	C128607988G	SPTAN1	NM_001130438.3(SPTAN1):c.4283C>G:p.Ala1428Gly	coding	Benign/Likely_benign
9	128608048	A	C	A128608048C	SPTAN1	NM_001130438.3(SPTAN1):c.4343A>C:p.Gln1448Pro	coding	Pathogenic
9	128608114	C	T	C128608114T	SPTAN1	NM_001130438.3(SPTAN1):c.4345-16C>T	noncoding	Benign
9	128608282	G	A	G128608282A	SPTAN1	NM_001130438.3(SPTAN1):c.4491+6G>A	noncoding	Benign
9	128608477	T	C	T128608477C	SPTAN1	NM_001130438.3(SPTAN1):c.4491+201T>C	noncoding	Benign
9	128608854	A	G	A128608854G	SPTAN1	NM_001130438.3(SPTAN1):c.4492-20A>G	noncoding	Benign/Likely_benign
9	128608986	C	T	C128608986T	SPTAN1	NM_001130438.3(SPTAN1):c.4595+9C>T	noncoding	Benign/Likely_benign
9	128609393	G	T	G128609393T	SPTAN1	NM_001130438.3(SPTAN1):c.4758+109G>T	noncoding	Benign
9	128609988	G	A	G128609988A	SPTAN1	NM_001130438.3(SPTAN1):c.4773+323G>A	noncoding	Benign
9	128611768	C	T	C128611768T	SPTAN1	NM_001130438.3(SPTAN1):c.4828C>T:p.Arg1610Trp	coding	Pathogenic/Likely_pathogenic
9	128611886	C	G	C128611886G	SPTAN1	NM_001130438.3(SPTAN1):c.4905+41C>G	noncoding	Benign
9	128613422	A	G	A128613422G	SPTAN1	NM_001130438.3(SPTAN1):c.5085A>G:p.Leu1695=	coding	Benign
9	128615654	G	T	G128615654T	SPTAN1	NM_001130438.3(SPTAN1):c.5171G>T:p.Ser1724Ile	coding	Benign/Likely_benign
9	128615722	A	G	A128615722G	SPTAN1	NM_001130438.3(SPTAN1):c.5239A>G:p.Ile1747Val	coding	Benign/Likely_benign
9	128617705	G	A	G128617705A	SPTAN1	NM_001130438.3(SPTAN1):c.5423G>A:p.Arg1808Lys	coding	Benign
9	128617972	G	A	G128617972A	SPTAN1	NM_001130438.3(SPTAN1):c.5479-15G>A	noncoding	Benign
9	128618052	G	A	G128618052A	SPTAN1	NM_001130438.3(SPTAN1):c.5544G>A:p.Gln1848=	coding	Benign
9	128618715	T	C	T128618715C	SPTAN1	NM_001130438.3(SPTAN1):c.5601-156T>C	noncoding	Benign
9	128618982	C	T	C128618982T	SPTAN1	NM_001130438.3(SPTAN1):c.5712C>T:p.Gly1904=	coding	Benign
9	128624444	C	T	C128624444T	SPTAN1	NM_001130438.3(SPTAN1):c.5949C>T:p.Phe1983=	coding	Benign/Likely_benign
9	128625799	C	T	C128625799T	SPTAN1	NM_001130438.3(SPTAN1):c.6100C>T:p.Gln2034Ter	coding	Pathogenic
9	128625832	A	G	A128625832G	SPTAN1	NM_001130438.3(SPTAN1):c.6133A>G:p.Lys2045Glu	coding	Benign/Likely_benign
9	128626519	G	C	G128626519C	SPTAN1	NM_001130438.3(SPTAN1):c.6408G>C:p.Glu2136Asp	coding	Benign/Likely_benign
9	128626538	T	G	T128626538G	SPTAN1	NM_001130438.3(SPTAN1):c.6427T>G:p.Ser2143Ala	coding	Benign
9	128626699	G	A	G128626699A	SPTAN1	NM_001130438.3(SPTAN1):c.6576+12G>A	noncoding	Benign/Likely_benign
9	128630243	C	T	C128630243T	SPTAN1	NM_001130438.3(SPTAN1):c.6708-78C>T	noncoding	Benign
9	128630274	G	A	G128630274A	SPTAN1	NM_001130438.3(SPTAN1):c.6708-47G>A	noncoding	Benign
9	128630339	G	A	G128630339A	SPTAN1	NM_001130438.3(SPTAN1):c.6726G>A:p.Glu2242=	coding	Benign/Likely_benign
9	128632018	A	G	A128632018G	SPTAN1	NM_001130438.3(SPTAN1):c.6763-109A>G	noncoding	Benign
9	128632121	C	A	C128632121A	SPTAN1	NM_001130438.3(SPTAN1):c.6763-6C>A	noncoding	Benign
9	128632145	C	T	C128632145T	SPTAN1	NM_001130438.3(SPTAN1):c.6781C>T:p.Arg2261Ter	coding	Pathogenic/Likely_pathogenic
9	128632174	C	T	C128632174T	SPTAN1	NM_001130438.3(SPTAN1):c.6810C>T:p.Ile2270=	coding	Benign/Likely_benign
9	128632286	C	T	C128632286T	SPTAN1	NM_001130438.3(SPTAN1):c.6922C>T:p.Arg2308Cys	coding	Pathogenic
9	128632320	C	A	C128632320A	SPTAN1	NM_001130438.3(SPTAN1):c.6956C>A:p.Ala2319Asp	coding	Pathogenic
9	128632329	C	T	C128632329T	SPTAN1	NM_001130438.3(SPTAN1):c.6959+6C>T	noncoding	Benign/Likely_benign
9	128632876	C	T	C128632876T	SPTAN1	NM_001130438.3(SPTAN1):c.7229C>T:p.Ser2410Phe	coding	Pathogenic
9	128633290	G	A	G128633290A	SPTAN1	NM_001130438.3(SPTAN1):c.7390G>A:p.Ala2464Thr	coding	Benign/Likely_benign
9	128633302	G	A	G128633302A	SPTAN1	NM_001130438.3(SPTAN1):c.7402G>A:p.Val2468Met	coding	Benign/Likely_benign
9	128633739	A	C	A128633739C	DYNC2I2	NM_052844.4(DYNC2I2):c.*5T>G	noncoding	Benign
9	128633804	C	T	C128633804T	DYNC2I2	NM_052844.4(DYNC2I2):c.1551G>A:p.Thr517=	coding	Benign
9	128633930	C	G	C128633930G	DYNC2I2	NM_052844.4(DYNC2I2):c.1425G>C:p.Leu475Phe	coding	Benign
9	128634272	G	A	G128634272A	DYNC2I2	NM_052844.4(DYNC2I2):c.1326C>T:p.Arg442=	coding	Benign
9	128635733	G	A	G128635733A	DYNC2I2	NM_052844.4(DYNC2I2):c.738C>T:p.Asp246=	coding	Benign
9	128636064	T	A	T128636064A	DYNC2I2	NM_052844.4(DYNC2I2):c.703+217A>T	noncoding	Benign
9	128636239	G	C	G128636239C	DYNC2I2	NM_052844.4(DYNC2I2):c.703+42C>G	noncoding	Benign
9	128636261	G	A	G128636261A	DYNC2I2	NM_052844.4(DYNC2I2):c.703+20C>T	noncoding	Benign
9	128636906	G	A	G128636906A	DYNC2I2	NM_052844.4(DYNC2I2):c.545+12C>T	noncoding	Benign
9	128636986	C	T	C128636986T	DYNC2I2	NM_052844.4(DYNC2I2):c.477G>A:p.Ala159=	coding	Benign
9	128637260	G	C	G128637260C	DYNC2I2	NM_052844.4(DYNC2I2):c.436-233C>G	noncoding	Benign
9	128640706	G	A	G128640706A	DYNC2I2	NM_052844.4(DYNC2I2):c.420C>T:p.Thr140=	coding	Benign
9	128656746	C	A	C128656746A	DYNC2I2	NM_052844.4(DYNC2I2):c.-20G>T	noncoding	Benign
9	128657143	C	T	C128657143T	DYNC2I2	Single_allele	noncoding	Benign
9	128690034	C	T	C128690034T	SET	NM_003011.4(SET):c.73+379C>T	noncoding	Benign
9	128691841	C	T	C128691841T	SET	NM_003011.4(SET):c.132-17C>T	noncoding	Benign
9	128692947	C	A	C128692947A	SET	NM_003011.4(SET):c.458C>A:p.Ser153Ter	coding	Pathogenic
9	128693624	C	T	C128693624T	SET	NM_003011.4(SET):c.493-14C>T	noncoding	Benign
9	128693809	G	C	G128693809C	SET	NM_003011.4(SET):c.663+1G>C	coding	Pathogenic
9	128693813	G	C	G128693813C	SET	NM_003011.4(SET):c.663+5G>C	noncoding	Pathogenic
9	128907146	C	T	C128907146T	LRRC8A	NM_019594.4(LRRC8A):c.-8-11C>T	noncoding	Benign
9	128907287	C	T	C128907287T	LRRC8A	NM_019594.4(LRRC8A):c.123C>T:p.Phe41=	coding	Benign
9	128907431	C	T	C128907431T	LRRC8A	NM_019594.4(LRRC8A):c.267C>T:p.Thr89=	coding	Benign
9	128907497	T	C	T128907497C	LRRC8A	NM_019594.4(LRRC8A):c.333T>C:p.Ala111=	coding	Benign
9	128908082	C	T	C128908082T	LRRC8A	NM_019594.4(LRRC8A):c.918C>T:p.Arg306=	coding	Benign
9	128908103	C	G	C128908103G	LRRC8A	NM_019594.4(LRRC8A):c.939C>G:p.Pro313=	coding	Benign
9	128908391	C	T	C128908391T	LRRC8A	NM_019594.4(LRRC8A):c.1227C>T:p.Asn409=	coding	Benign
9	128908604	G	A	G128908604A	LRRC8A	NM_019594.4(LRRC8A):c.1440G>A:p.Ala480=	coding	Benign
9	128909332	C	T	C128909332T	LRRC8A	NM_019594.4(LRRC8A):c.2157+11C>T	noncoding	Benign
9	128946293	T	C	T128946293C	DOLK	NM_014908.4(DOLK):c.1011A>G:p.Arg337=	coding	Benign/Likely_benign
9	128947738	G	A	G128947738A	DOLK	NM_015354.3(NUP188):c.19G>A:p.Gly7Arg	coding	Benign/Likely_benign
9	128947888	G	A	G128947888A	DOLK	NM_015354.3(NUP188):c.32+137G>A	noncoding	Benign
9	128948062	C	T	C128948062T	DOLK	NM_015354.3(NUP188):c.32+311C>T	noncoding	Benign
9	128973280	T	C	T128973280C	NUP188	NM_015354.3(NUP188):c.1203+31T>C	noncoding	Benign
9	128983269	T	C	T128983269C	NUP188	NM_015354.3(NUP188):c.1797-24T>C	noncoding	Benign
9	128999742	G	T	G128999742T	NUP188	NM_015354.3(NUP188):c.3780G>T:p.Glu1260Asp	coding	Benign
9	129095408	C	G	C129095408G	CRAT	NM_000755.5(CRAT):c.1870G>C:p.Ala624Pro	coding	Benign
9	129095434	C	A	C129095434A	CRAT	NM_000755.5(CRAT):c.1844G>T:p.Arg615Leu	coding	Benign
9	129095481	G	A	G129095481A	CRAT	NM_000755.5(CRAT):c.1797C>T:p.Asn599=	coding	Benign
9	129095565	G	A	G129095565A	CRAT	NM_000755.5(CRAT):c.1713C>T:p.Pro571=	coding	Benign
9	129097286	C	T	C129097286T	CRAT	NM_000755.5(CRAT):c.1491G>A:p.Arg497=	coding	Benign
9	129098025	G	A	G129098025A	CRAT	NM_000755.5(CRAT):c.1452C>T:p.Asp484=	coding	Benign
9	129098142	G	A	G129098142A	CRAT	NM_000755.5(CRAT):c.1335C>T:p.Tyr445=	coding	Benign
9	129098622	G	T	G129098622T	CRAT	NM_000755.5(CRAT):c.1114C>A:p.Leu372Met	coding	Benign
9	129100502	G	A	G129100502A	CRAT	NM_000755.5(CRAT):c.984+9C>T	noncoding	Benign
9	129100541	G	A	G129100541A	CRAT	NM_000755.5(CRAT):c.954C>T:p.Ser318=	coding	Benign
9	129104214	G	C	G129104214C	CRAT	NM_000755.5(CRAT):c.384C>G:p.Asp128Glu	coding	Benign
9	129104244	C	G	C129104244G	CRAT	NM_000755.5(CRAT):c.354G>C:p.Ser118=	coding	Benign
9	129814013	T	C	T129814013C	TOR1A	NM_000113.3(TOR1A):c.958A>G:p.Lys320Glu	coding	Pathogenic
9	129814108	C	T	C129814108T	TOR1A	NM_000113.3(TOR1A):c.863G>A:p.Arg288Gln	coding	Pathogenic
9	129814109	G	A	G129814109A	TOR1A	NM_000113.3(TOR1A):c.862C>T:p.Arg288Ter	coding	Pathogenic/Likely_pathogenic
9	129818407	G	C	G129818407C	TOR1A	NM_000113.3(TOR1A):c.748+113C>G	noncoding	Benign
9	129818904	C	T	C129818904T	TOR1A	NM_000113.3(TOR1A):c.461G>A:p.Trp154Ter	coding	Pathogenic
9	129822811	G	A	G129822811A	TOR1A	NM_000113.3(TOR1A):c.214C>T:p.Gln72Ter	coding	Pathogenic
9	129823077	A	T	A129823077T	TOR1A	NM_000113.3(TOR1A):c.179-231T>A	noncoding	Benign
9	129824137	A	C	A129824137C	TOR1A	NM_000113.2(TOR1A):c.-52T>G	noncoding	Benign/Likely_benign
9	129824189	C	T	C129824189T	TOR1A	Single_allele	noncoding	Benign
9	129824273	T	A	T129824273A	TOR1A	Single_allele	noncoding	Benign
9	129824309	G	T	G129824309T	TOR1A	Single_allele	noncoding	Benign
9	130445062	A	C	A130445062C	ASS1	NM_054012.4(ASS1):c.-6+67A>C	noncoding	Benign
9	130452407	G	C	G130452407C	ASS1	NM_054012.4(ASS1):c.105+74G>C	noncoding	Benign
9	130452448	G	A	G130452448A	ASS1	NM_054012.4(ASS1):c.105+115G>A	noncoding	Benign
9	130454021	G	A	G130454021A	ASS1	NM_054012.4(ASS1):c.106-284G>A	noncoding	Benign
9	130454159	C	A	C130454159A	ASS1	NM_054012.4(ASS1):c.106-146C>A	noncoding	Benign
9	130454289	C	T	C130454289T	ASS1	NM_054012.4(ASS1):c.106-16C>T	noncoding	Benign
9	130464109	A	G	A130464109G	ASS1	NM_054012.4(ASS1):c.364-2A>G	noncoding	Pathogenic
9	130464120	C	T	C130464120T	ASS1	NM_054012.4(ASS1):c.373C>T:p.Gln125Ter	coding	Pathogenic
9	130466783	T	C	T130466783C	ASS1	NM_054012.4(ASS1):c.479T>C:p.Leu160Pro	coding	Pathogenic
9	130466793	C	A	C130466793A	ASS1	NM_054012.4(ASS1):c.489C>A:p.Tyr163Ter	coding	Pathogenic
9	130466793	C	G	C130466793G	ASS1	NM_054012.4(ASS1):c.489C>G:p.Tyr163Ter	coding	Pathogenic
9	130466794	G	C	G130466794C	ASS1	NM_054012.4(ASS1):c.490G>C:p.Ala164Pro	coding	Pathogenic
9	130466883	A	C	A130466883C	ASS1	NM_054012.4(ASS1):c.495+84A>C	noncoding	Benign
9	130470784	C	G	C130470784G	ASS1	NM_054012.4(ASS1):c.496-50C>G	noncoding	Benign
9	130470798	C	T	C130470798T	ASS1	NM_054012.4(ASS1):c.496-36C>T	noncoding	Benign
9	130470874	G	A	G130470874A	ASS1	NM_054012.4(ASS1):c.536G>A:p.Trp179Ter	coding	Pathogenic
9	130470924	C	T	C130470924T	ASS1	NM_054012.4(ASS1):c.566+20C>T	noncoding	Benign/Likely_benign
9	130476894	C	A	C130476894A	ASS1	NM_054012.4(ASS1):c.621C>A:p.Tyr207Ter	coding	Pathogenic
9	130477167	G	A	G130477167A	ASS1	NM_054012.4(ASS1):c.688+206G>A	noncoding	Benign
9	130479823	G	T	G130479823T	ASS1	NM_054012.4(ASS1):c.773+23G>T	noncoding	Benign/Likely_benign
9	130479984	G	T	G130479984T	ASS1	NM_054012.4(ASS1):c.773+184G>T	noncoding	Benign
9	130480357	G	T	G130480357T	ASS1	NM_054012.4(ASS1):c.774-28G>T	noncoding	Benign/Likely_benign
9	130480515	C	A	C130480515A	ASS1	NM_054012.4(ASS1):c.838+66C>A	noncoding	Benign
9	130480578	C	G	C130480578G	ASS1	NM_054012.4(ASS1):c.838+129C>G	noncoding	Benign
9	130480593	C	T	C130480593T	ASS1	NM_054012.4(ASS1):c.838+144C>T	noncoding	Benign
9	130489031	G	A	G130489031A	ASS1	NM_054012.4(ASS1):c.839-302G>A	noncoding	Benign
9	130489245	A	T	A130489245T	ASS1	NM_054012.4(ASS1):c.839-88A>T	noncoding	Benign
9	130489256	T	G	T130489256G	ASS1	NM_054012.4(ASS1):c.839-77T>G	noncoding	Benign
9	130489341	G	A	G130489341A	ASS1	NM_054012.4(ASS1):c.847G>A:p.Glu283Lys	coding	Pathogenic/Likely_pathogenic
9	130489438	T	A	T130489438A	ASS1	NM_054012.4(ASS1):c.944T>A:p.Leu315Ter	coding	Pathogenic
9	130489729	G	T	G130489729T	ASS1	NM_054012.4(ASS1):c.970+265G>T	noncoding	Benign
9	130494867	G	T	G130494867T	ASS1	NM_054012.4(ASS1):c.971G>T:p.Gly324Val	coding	Pathogenic
9	130494944	C	T	C130494944T	ASS1	NM_054012.4(ASS1):c.1048C>T:p.Gln350Ter	coding	Pathogenic
9	130494971	T	G	T130494971G	ASS1	NM_054012.4(ASS1):c.1075T>G:p.Tyr359Asp	coding	Pathogenic
9	130494984	G	A	G130494984A	ASS1	NM_054012.4(ASS1):c.1088G>A:p.Arg363Gln	coding	Pathogenic/Likely_pathogenic
9	130495013	G	T	G130495013T	ASS1	NM_054012.4(ASS1):c.1117G>T:p.Glu373Ter	coding	Pathogenic
9	130499515	C	T	C130499515T	ASS1	NM_054012.4(ASS1):c.1138C>T:p.Gln380Ter	coding	Pathogenic/Likely_pathogenic
9	130500766	A	G	A130500766G	ASS1	NM_054012.4(ASS1):c.1194-210A>G	noncoding	Benign
9	130664274	A	G	A130664274G	PRDM12	Single_allele	noncoding	Benign
9	130665120	C	A	C130665120A	PRDM12	NM_021619.3(PRDM12):c.223+244C>A	noncoding	Benign
9	130666523	C	T	C130666523T	PRDM12	NM_021619.3(PRDM12):c.224-85C>T	noncoding	Benign
9	130666607	G	A	G130666607A	PRDM12	NM_021619.3(PRDM12):c.224-1G>A	noncoding	Pathogenic
9	130668257	G	T	G130668257T	PRDM12	NM_021619.3(PRDM12):c.514G>T:p.Glu172Ter	coding	Pathogenic
9	130668315	T	G	T130668315G	PRDM12	NM_021619.3(PRDM12):c.570+2T>G	noncoding	Pathogenic
9	130668593	G	T	G130668593T	PRDM12	NM_021619.3(PRDM12):c.570+280G>T	noncoding	Benign
9	130668594	A	T	A130668594T	PRDM12	NM_021619.3(PRDM12):c.570+281A>T	noncoding	Benign
9	130678606	C	T	C130678606T	PRDM12	NM_021619.3(PRDM12):c.648C>T:p.Pro216=	coding	Benign
9	130678678	A	G	A130678678G	PRDM12	NM_021619.3(PRDM12):c.682+38A>G	noncoding	Benign
9	130678802	C	T	C130678802T	PRDM12	NM_021619.3(PRDM12):c.682+162C>T	noncoding	Benign
9	130681350	T	G	T130681350G	PRDM12	NM_021619.3(PRDM12):c.785T>G:p.Met262Arg	coding	Pathogenic
9	130681543	C	T	C130681543T	PRDM12	NM_021619.3(PRDM12):c.978C>T:p.Pro326=	coding	Benign
9	130681718	C	T	C130681718T	PRDM12	NM_021619.3(PRDM12):c.*49C>T	noncoding	Benign
9	130681721	C	G	C130681721G	PRDM12	NM_021619.3(PRDM12):c.*52C>G	noncoding	Benign
9	130681735	G	A	G130681735A	PRDM12	NM_021619.3(PRDM12):c.*66G>A	noncoding	Benign
9	130695480	G	A	G130695480A	EXOSC2	NM_014285.7(EXOSC2):c.123-12G>A	noncoding	Benign
9	130695504	G	A	G130695504A	EXOSC2	NM_014285.7(EXOSC2):c.135G>A:p.Thr45=	coding	Benign
9	130697640	T	A	T130697640A	EXOSC2	NM_014285.7(EXOSC2):c.270+13T>A	noncoding	Benign
9	130698158	A	G	A130698158G	EXOSC2	NM_014285.7(EXOSC2):c.271-4A>G	noncoding	Benign
9	130700953	T	G	T130700953G	EXOSC2	NM_014285.7(EXOSC2):c.495+18T>G	noncoding	Benign
9	130702190	C	G	C130702190G	EXOSC2	NM_014285.7(EXOSC2):c.552C>G:p.Thr184=	coding	Benign
9	130703033	C	T	C130703033T	EXOSC2	NM_014285.7(EXOSC2):c.673-20C>T	noncoding	Benign
9	130703746	G	A	G130703746A	EXOSC2	NM_014285.7(EXOSC2):c.854G>A:p.Arg285His	coding	Benign
9	130703765	G	A	G130703765A	EXOSC2	NM_014285.7(EXOSC2):c.873G>A:p.Gln291=	coding	Benign
9	130854898	G	A	G130854898A	ABL1	NM_005157.6(ABL1):c.351G>A:p.Thr117=	coding	Benign
9	130862802	G	A	G130862802A	ABL1	NM_005157.6(ABL1):c.589G>A:p.Glu197Lys	coding	Benign
9	130862984	C	T	C130862984T	ABL1	NM_005157.6(ABL1):c.771C>T:p.Tyr257=	coding	Benign
9	130863051	C	G	C130863051G	ABL1	NM_005157.6(ABL1):c.822+16C>G	noncoding	Benign
9	130872947	G	A	G130872947A	ABL1	NM_005157.6(ABL1):c.995G>A:p.Arg332Gln	coding	Benign
9	130878532	G	A	G130878532A	ABL1	NM_005157.6(ABL1):c.1388G>A:p.Gly463Asp	coding	Pathogenic
9	130880141	A	G	A130880141G	ABL1	NM_005157.6(ABL1):c.1497A>G:p.Glu499=	coding	Benign
9	130880156	C	T	C130880156T	ABL1	NM_005157.6(ABL1):c.1512C>T:p.Asp504=	coding	Benign
9	130880503	T	C	T130880503C	ABL1	NM_005157.6(ABL1):c.1517T>C:p.Val506Ala	coding	Pathogenic/Likely_pathogenic
9	130880511	G	A	G130880511A	ABL1	NM_005157.6(ABL1):c.1525G>A:p.Glu509Lys	coding	Pathogenic/Likely_pathogenic
9	130880678	T	C	T130880678C	ABL1	NM_005157.6(ABL1):c.1678+14T>C	noncoding	Benign
9	130883958	T	C	T130883958C	ABL1	NM_005157.6(ABL1):c.1679-11T>C	noncoding	Benign
9	130884159	G	A	G130884159A	ABL1	NM_005157.6(ABL1):c.1869G>A:p.Glu623=	coding	Benign
9	130884310	C	T	C130884310T	ABL1	NM_005157.6(ABL1):c.2020C>T:p.Arg674Trp	coding	Benign
9	130884642	C	G	C130884642G	ABL1	NM_005157.6(ABL1):c.2352C>G:p.Pro784=	coding	Benign
9	130885122	C	T	C130885122T	ABL1	NM_005157.6(ABL1):c.2832C>T:p.Asp944=	coding	Benign
9	130885173	G	A	G130885173A	ABL1	NM_005157.6(ABL1):c.2883G>A:p.Pro961=	coding	Benign
9	130885205	C	T	C130885205T	ABL1	NM_005157.6(ABL1):c.2915C>T:p.Ser972Leu	coding	Benign
9	130885230	C	T	C130885230T	ABL1	NM_005157.6(ABL1):c.2940C>T:p.Pro980=	coding	Benign
9	130885260	G	A	G130885260A	ABL1	NM_005157.6(ABL1):c.2970G>A:p.Ser990=	coding	Benign
9	130885365	C	T	C130885365T	ABL1	NM_005157.6(ABL1):c.3075C>T:p.Gly1025=	coding	Benign
9	130885614	A	G	A130885614G	ABL1	NM_005157.6(ABL1):c.3324A>G:p.Pro1108=	coding	Benign
9	130904061	A	G	A130904061G	FIBCD1	NM_032843.5(FIBCD1):c.*3T>C	noncoding	Benign
9	130904343	G	A	G130904343A	FIBCD1	NM_032843.5(FIBCD1):c.1127-20C>T	noncoding	Benign
9	131008961	C	T	C131008961T	LAMC3	Single_allele	noncoding	Benign
9	131009437	C	T	C131009437T	LAMC3	NM_006059.4(LAMC3):c.223C>T:p.Gln75Ter	coding	Pathogenic
9	131009686	G	T	G131009686T	LAMC3	NM_006059.4(LAMC3):c.373+99G>T	noncoding	Benign
9	131026391	C	T	C131026391T	LAMC3	NM_006059.4(LAMC3):c.480C>T:p.Tyr160=	coding	Benign/Likely_benign
9	131026424	C	G	C131026424G	LAMC3	NM_006059.4(LAMC3):c.513C>G:p.Tyr171Ter	coding	Pathogenic
9	131026433	C	G	C131026433G	LAMC3	NM_006059.4(LAMC3):c.522C>G:p.Pro174=	coding	Benign
9	131026864	T	G	T131026864G	LAMC3	NM_006059.4(LAMC3):c.678+275T>G	noncoding	Benign
9	131032062	C	T	C131032062T	LAMC3	NM_006059.4(LAMC3):c.696C>T:p.Thr232=	coding	Benign
9	131032441	C	T	C131032441T	LAMC3	NM_006059.4(LAMC3):c.809+266C>T	noncoding	Benign
9	131032445	C	T	C131032445T	LAMC3	NM_006059.4(LAMC3):c.809+270C>T	noncoding	Benign
9	131036233	C	T	C131036233T	LAMC3	NM_006059.4(LAMC3):c.877C>T:p.Gln293Ter	coding	Pathogenic
9	131036434	C	T	C131036434T	LAMC3	NM_006059.4(LAMC3):c.976+102C>T	noncoding	Benign
9	131036605	G	A	G131036605A	LAMC3	NM_006059.4(LAMC3):c.976+273G>A	noncoding	Benign
9	131038676	T	C	T131038676C	LAMC3	NM_006059.4(LAMC3):c.977-188T>C	noncoding	Benign
9	131038748	C	G	C131038748G	LAMC3	NM_006059.4(LAMC3):c.977-116C>G	noncoding	Benign
9	131038934	C	T	C131038934T	LAMC3	NM_006059.4(LAMC3):c.1047C>T:p.Gly349=	coding	Benign
9	131039247	A	T	A131039247T	LAMC3	NM_006059.4(LAMC3):c.1282A>T:p.Arg428Ter	coding	Pathogenic
9	131039263	C	G	C131039263G	LAMC3	NM_006059.4(LAMC3):c.1283+15C>G	noncoding	Benign
9	131039263	C	T	C131039263T	LAMC3	NM_006059.4(LAMC3):c.1283+15C>T	noncoding	Benign/Likely_benign
9	131039428	T	A	T131039428A	LAMC3	NM_006059.4(LAMC3):c.1283+180T>A	noncoding	Benign
9	131039473	A	G	A131039473G	LAMC3	NM_006059.4(LAMC3):c.1283+225A>G	noncoding	Benign
9	131041810	A	C	A131041810C	LAMC3	NM_006059.4(LAMC3):c.1382+75A>C	noncoding	Benign
9	131041890	A	G	A131041890G	LAMC3	NM_006059.4(LAMC3):c.1382+155A>G	noncoding	Benign
9	131045234	A	C	A131045234C	LAMC3	NM_006059.4(LAMC3):c.1383-290A>C	noncoding	Benign
9	131048685	C	T	C131048685T	LAMC3	NM_006059.4(LAMC3):c.1520-335C>T	noncoding	Benign
9	131048971	C	T	C131048971T	LAMC3	NM_006059.4(LAMC3):c.1520-49C>T	noncoding	Benign
9	131052482	T	C	T131052482C	LAMC3	NM_006059.4(LAMC3):c.1631-9T>C	noncoding	Benign
9	131052491	A	G	A131052491G	LAMC3	NM_006059.4(LAMC3):c.1631A>G:p.Glu544Gly	coding	Benign
9	131052612	G	C	G131052612C	LAMC3	NM_006059.4(LAMC3):c.1752G>C:p.Leu584=	coding	Benign
9	131052701	T	C	T131052701C	LAMC3	NM_006059.4(LAMC3):c.1823+18T>C	noncoding	Benign
9	131052719	T	G	T131052719G	LAMC3	NM_006059.4(LAMC3):c.1823+36T>G	noncoding	Benign
9	131052790	C	G	C131052790G	LAMC3	NM_006059.4(LAMC3):c.1824-60C>G	noncoding	Benign
9	131052836	G	A	G131052836A	LAMC3	NM_006059.4(LAMC3):c.1824-14G>A	noncoding	Benign
9	131053298	C	G	C131053298G	LAMC3	NM_006059.4(LAMC3):c.1939+333C>G	noncoding	Benign
9	131057116	T	A	T131057116A	LAMC3	NM_006059.4(LAMC3):c.2127T>A:p.Cys709Ter	coding	Pathogenic
9	131057290	G	A	G131057290A	LAMC3	NM_006059.4(LAMC3):c.2158+143G>A	noncoding	Benign
9	131061178	G	T	G131061178T	LAMC3	NM_006059.4(LAMC3):c.2302G>T:p.Glu768Ter	coding	Pathogenic
9	131066712	C	T	C131066712T	LAMC3	NM_006059.4(LAMC3):c.2348-248C>T	noncoding	Benign
9	131067237	A	G	A131067237G	LAMC3	NM_006059.4(LAMC3):c.2593+32A>G	noncoding	Benign
9	131067273	G	A	G131067273A	LAMC3	NM_006059.4(LAMC3):c.2593+68G>A	noncoding	Benign
9	131067315	T	C	T131067315C	LAMC3	NM_006059.4(LAMC3):c.2593+110T>C	noncoding	Benign
9	131067379	A	G	A131067379G	LAMC3	NM_006059.4(LAMC3):c.2593+174A>G	noncoding	Benign
9	131067395	C	G	C131067395G	LAMC3	NM_006059.4(LAMC3):c.2593+190C>G	noncoding	Benign
9	131068103	G	A	G131068103A	LAMC3	NM_006059.4(LAMC3):c.2619G>A:p.Ser873=	coding	Benign/Likely_benign
9	131068145	C	T	C131068145T	LAMC3	NM_006059.4(LAMC3):c.2661C>T:p.Cys887=	coding	Benign
9	131068398	C	G	C131068398G	LAMC3	NM_006059.4(LAMC3):c.2747+167C>G	noncoding	Benign
9	131068425	G	T	G131068425T	LAMC3	NM_006059.4(LAMC3):c.2747+194G>T	noncoding	Benign
9	131068811	G	T	G131068811T	LAMC3	NM_006059.4(LAMC3):c.2748-97G>T	noncoding	Benign
9	131068975	C	T	C131068975T	LAMC3	NM_006059.4(LAMC3):c.2815C>T:p.Arg939Cys	coding	Benign
9	131069135	C	T	C131069135T	LAMC3	NM_006059.4(LAMC3):c.2890+85C>T	noncoding	Benign
9	131069138	A	C	A131069138C	LAMC3	NM_006059.4(LAMC3):c.2890+88A>C	noncoding	Benign
9	131069208	G	A	G131069208A	LAMC3	NM_006059.4(LAMC3):c.2890+158G>A	noncoding	Benign
9	131069470	T	A	T131069470A	LAMC3	NM_006059.4(LAMC3):c.2891-202T>A	noncoding	Benign
9	131069832	C	A	C131069832A	LAMC3	NM_006059.4(LAMC3):c.3051C>A:p.Tyr1017Ter	coding	Pathogenic
9	131071639	G	A	G131071639A	LAMC3	NM_006059.4(LAMC3):c.3211+14G>A	noncoding	Benign
9	131071793	A	T	A131071793T	LAMC3	NM_006059.4(LAMC3):c.3211+168A>T	noncoding	Benign
9	131072565	G	A	G131072565A	LAMC3	NM_006059.4(LAMC3):c.3212-65G>A	noncoding	Benign
9	131072988	T	C	T131072988C	LAMC3	NM_006059.4(LAMC3):c.3417+153T>C	noncoding	Benign
9	131075793	G	A	G131075793A	LAMC3	NM_006059.4(LAMC3):c.3495-38G>A	noncoding	Benign
9	131075843	C	T	C131075843T	LAMC3	NM_006059.4(LAMC3):c.3507C>T:p.Thr1169=	coding	Benign
9	131077278	C	T	C131077278T	LAMC3	NM_006059.4(LAMC3):c.3721C>T:p.Gln1241Ter	coding	Pathogenic
9	131079466	G	A	G131079466A	LAMC3	NM_006059.4(LAMC3):c.3927+168G>A	noncoding	Benign
9	131082372	C	T	C131082372T	LAMC3	NM_006059.4(LAMC3):c.4030+211C>T	noncoding	Benign
9	131085381	C	T	C131085381T	LAMC3	NM_006059.4(LAMC3):c.4031-143C>T	noncoding	Benign
9	131085386	T	C	T131085386C	LAMC3	NM_006059.4(LAMC3):c.4031-138T>C	noncoding	Benign
9	131085390	C	T	C131085390T	LAMC3	NM_006059.4(LAMC3):c.4031-134C>T	noncoding	Benign
9	131085612	G	A	G131085612A	LAMC3	NM_006059.4(LAMC3):c.4119G>A:p.Thr1373=	coding	Benign/Likely_benign
9	131085840	G	A	G131085840A	LAMC3	NM_006059.4(LAMC3):c.4230+117G>A	noncoding	Benign
9	131087186	T	G	T131087186G	LAMC3	NM_006059.4(LAMC3):c.4231-290T>G	noncoding	Benign
9	131087462	C	T	C131087462T	LAMC3	NM_006059.4(LAMC3):c.4231-14C>T	noncoding	Benign
9	131087671	C	A	C131087671A	LAMC3	NM_006059.4(LAMC3):c.4378-47C>A	noncoding	Benign
9	131091853	T	C	T131091853C	LAMC3	NM_006059.4(LAMC3):c.*66T>C	noncoding	Benign
9	131091908	C	A	C131091908A	LAMC3	NM_006059.4(LAMC3):c.*121C>A	noncoding	Benign
9	131144705	C	T	C131144705T	NUP214	NM_005085.4(NUP214):c.1720C>T:p.Pro574Ser	coding	Benign
9	131467551	T	C	T131467551C	PRRC2B	NM_013318.4(PRRC2B):c.1721-12T>C	noncoding	Benign
9	131474844	C	T	C131474844T	PRRC2B	NM_013318.4(PRRC2B):c.2715C>T:p.Asn905=	coding	Benign
9	131474936	C	G	C131474936G	PRRC2B	NM_013318.4(PRRC2B):c.2807C>G:p.Thr936Ser	coding	Benign
9	131475071	C	T	C131475071T	PRRC2B	NM_013318.4(PRRC2B):c.2942C>T:p.Pro981Leu	coding	Benign
9	131475956	C	T	C131475956T	PRRC2B	NM_013318.4(PRRC2B):c.3827C>T:p.Ala1276Val	coding	Benign
9	131504315	C	T	C131504315T	POMT1	NM_001077365.2(POMT1):c.97C>T:p.Arg33Ter	coding	Pathogenic
9	131506121	G	A	G131506121A	POMT1	NM_001077365.2(POMT1):c.130G>A:p.Glu44Lys	coding	Pathogenic
9	131507772	C	T	C131507772T	POMT1	NM_001077365.2(POMT1):c.427+258C>T	noncoding	Benign
9	131509930	C	G	C131509930G	POMT1	NM_001077365.2(POMT1):c.633C>G:p.Tyr211Ter	coding	Pathogenic
9	131510082	C	T	C131510082T	POMT1	NM_001077365.2(POMT1):c.699+86C>T	noncoding	Benign
9	131511460	C	A	C131511460A	POMT1	NM_001077365.2(POMT1):c.979C>A:p.Pro327Thr	coding	Pathogenic
9	131511468	G	A	G131511468A	POMT1	NM_001077365.2(POMT1):c.986+1G>A	coding	Pathogenic
9	131511939	G	A	G131511939A	POMT1	NM_001077365.2(POMT1):c.987-102G>A	noncoding	Benign
9	131512977	T	C	T131512977C	POMT1	NM_001077365.2(POMT1):c.1083-262T>C	noncoding	Benign
9	131512986	T	C	T131512986C	POMT1	NM_001077365.2(POMT1):c.1083-253T>C	noncoding	Benign
9	131513175	C	T	C131513175T	POMT1	NM_001077365.2(POMT1):c.1083-64C>T	noncoding	Benign
9	131513347	G	A	G131513347A	POMT1	NM_001077365.2(POMT1):c.1175+16G>A	noncoding	Benign/Likely_benign
9	131515505	C	T	C131515505T	POMT1	NM_001077365.2(POMT1):c.1255C>T:p.Gln419Ter	coding	Pathogenic
9	131515523	G	A	G131515523A	POMT1	NM_001077365.2(POMT1):c.1272+1G>A	coding	Pathogenic
9	131518862	G	C	G131518862C	POMT1	NM_001077365.2(POMT1):c.1391G>C:p.Trp464Ser	coding	Pathogenic
9	131518888	G	C	G131518888C	POMT1	NM_001077365.2(POMT1):c.1417G>C:p.Gly473Arg	coding	Pathogenic
9	131519447	C	G	C131519447G	POMT1	NM_001077365.2(POMT1):c.1545C>G:p.Ser515Arg	coding	Benign/Likely_benign
9	131520204	G	C	G131520204C	POMT1	NM_001077365.2(POMT1):c.1698+11G>C	noncoding	Benign/Likely_benign
9	131522912	C	T	C131522912T	POMT1	NM_001077365.2(POMT1):c.2004-20C>T	noncoding	Benign/Likely_benign
9	131523025	C	A	C131523025A	POMT1	NM_001077365.2(POMT1):c.2097C>A:p.Tyr699Ter	coding	Pathogenic/Likely_pathogenic
9	131578589	G	A	G131578589A	RAPGEF1	NM_001377935.1(RAPGEF1):c.*908C>T	noncoding	Benign
9	131860603	C	T	C131860603T	MED27	NM_004269.4(MED27):c.871G>A:p.Gly291Ser	coding	Pathogenic
9	131863088	G	A	G131863088A	MED27	NM_004269.4(MED27):c.776C>T:p.Pro259Leu	coding	Pathogenic
9	131884101	T	C	T131884101C	MED27	NM_004269.4(MED27):c.682-2A>G	noncoding	Pathogenic
9	132079657	A	C	A132079657C	MED27	NM_004269.4(MED27):c.188T>G:p.Val63Gly	coding	Pathogenic
9	132198490	C	T	C132198490T	NTNG2	NM_032536.4(NTNG2):c.738C>T:p.Phe246=	coding	Benign
9	132226867	C	T	C132226867T	NTNG2	NM_032536.4(NTNG2):c.876C>T:p.His292=	coding	Benign
9	132230577	A	G	A132230577G	NTNG2	NM_032536.4(NTNG2):c.1036A>G:p.Thr346Ala	coding	Benign
9	132265045	T	C	T132265045C	SETX	NM_015046.7(SETX):c.7288-60A>G	noncoding	Benign
9	132269336	C	T	C132269336T	SETX	NM_015046.7(SETX):c.7287+279G>A	noncoding	Benign
9	132271606	A	G	A132271606G	SETX	NM_015046.7(SETX):c.7199+104T>C	noncoding	Benign
9	132271650	G	A	G132271650A	SETX	NM_015046.7(SETX):c.7199+60C>T	noncoding	Benign
9	132275074	A	C	A132275074C	SETX	NM_015046.7(SETX):c.7100+182T>G	noncoding	Benign
9	132275431	T	C	T132275431C	SETX	NM_015046.7(SETX):c.6936-11A>G	noncoding	Benign
9	132275520	G	T	G132275520T	SETX	NM_015046.7(SETX):c.6936-100C>A	noncoding	Benign
9	132275735	G	A	G132275735A	SETX	NM_015046.7(SETX):c.6936-315C>T	noncoding	Benign
9	132277849	T	C	T132277849C	SETX	NM_015046.7(SETX):c.6842+221A>G	noncoding	Benign
9	132278286	T	C	T132278286C	SETX	NM_015046.7(SETX):c.6655-29A>G	noncoding	Benign
9	132278566	T	C	T132278566C	SETX	NM_015046.7(SETX):c.6655-309A>G	noncoding	Benign
9	132281252	T	C	T132281252C	SETX	NM_015046.7(SETX):c.6654+215A>G	noncoding	Benign
9	132281315	A	T	A132281315T	SETX	NM_015046.7(SETX):c.6654+152T>A	noncoding	Benign
9	132281738	C	T	C132281738T	SETX	NM_015046.7(SETX):c.6547-164G>A	noncoding	Benign
9	132281861	C	A	C132281861A	SETX	NM_015046.7(SETX):c.6547-287G>T	noncoding	Benign
9	132282943	A	G	A132282943G	SETX	NM_015046.7(SETX):c.6546+321T>C	noncoding	Benign
9	132283156	G	C	G132283156C	SETX	NM_015046.7(SETX):c.6546+108C>G	noncoding	Benign
9	132286343	T	C	T132286343C	SETX	NM_015046.7(SETX):c.6396+80A>G	noncoding	Benign
9	132288720	A	C	A132288720C	SETX	NM_015046.7(SETX):c.6107-69T>G	noncoding	Benign
9	132295614	T	C	T132295614C	SETX	NM_015046.7(SETX):c.6106+258A>G	noncoding	Benign
9	132295872	C	T	C132295872T	SETX	NM_015046.7(SETX):c.6106G>A:p.Gly2036Arg	coding	Pathogenic
9	132296634	G	A	G132296634A	SETX	NM_015046.7(SETX):c.5949+253C>T	noncoding	Benign
9	132296667	G	A	G132296667A	SETX	NM_015046.7(SETX):c.5949+220C>T	noncoding	Benign
9	132296776	T	C	T132296776C	SETX	NM_015046.7(SETX):c.5949+111A>G	noncoding	Benign
9	132297278	C	G	C132297278G	SETX	NM_015046.7(SETX):c.5782-224G>C	noncoding	Benign
9	132298371	G	T	G132298371T	SETX	NM_015046.7(SETX):c.5549-59C>A	noncoding	Benign
9	132298484	G	A	G132298484A	SETX	NM_015046.7(SETX):c.5549-172C>T	noncoding	Benign
9	132298505	T	C	T132298505C	SETX	NM_015046.7(SETX):c.5549-193A>G	noncoding	Benign
9	132298562	C	G	C132298562G	SETX	NM_015046.7(SETX):c.5549-250G>C	noncoding	Benign
9	132300611	T	C	T132300611C	SETX	NM_015046.7(SETX):c.5548+19A>G	noncoding	Benign
9	132300642	G	A	G132300642A	SETX	NM_015046.7(SETX):c.5536C>T:p.Arg1846Cys	coding	Benign/Likely_benign
9	132326278	T	A	T132326278A	SETX	NM_015046.7(SETX):c.5274+46A>T	noncoding	Benign
9	132326590	G	A	G132326590A	SETX	NM_015046.7(SETX):c.5008C>T:p.Gln1670Ter	coding	Pathogenic
9	132326921	T	C	T132326921C	SETX	NM_015046.7(SETX):c.4677A>G:p.Lys1559=	coding	Benign/Likely_benign
9	132327917	A	T	A132327917T	SETX	NM_015046.7(SETX):c.3681T>A:p.Cys1227Ter	coding	Pathogenic
9	132328262	A	G	A132328262G	SETX	NM_015046.7(SETX):c.3336T>C:p.Ala1112=	coding	Benign/Likely_benign
9	132328351	A	G	A132328351G	SETX	NM_015046.7(SETX):c.3247T>C:p.Phe1083Leu	coding	Pathogenic
9	132329197	T	C	T132329197C	SETX	NM_015046.7(SETX):c.2401A>G:p.Lys801Glu	coding	Benign/Likely_benign
9	132330114	A	G	A132330114G	SETX	NM_015046.7(SETX):c.1484T>C:p.Leu495Pro	coding	Pathogenic
9	132330572	A	G	A132330572G	SETX	NM_015046.7(SETX):c.1099-73T>C	noncoding	Benign
9	132330641	T	C	T132330641C	SETX	NM_015046.7(SETX):c.1099-142A>G	noncoding	Benign
9	132330844	G	A	G132330844A	SETX	NM_015046.7(SETX):c.1098+208C>T	noncoding	Benign
9	132331592	A	G	A132331592G	SETX	NM_015046.7(SETX):c.839-144T>C	noncoding	Benign
9	132334937	A	C	A132334937C	SETX	NM_015046.7(SETX):c.719-210T>G	noncoding	Benign
9	132336145	A	C	A132336145C	SETX	NM_015046.7(SETX):c.718+151T>G	noncoding	Benign
9	132336282	G	T	G132336282T	SETX	NM_015046.7(SETX):c.718+14C>A	noncoding	Benign
9	132342422	T	C	T132342422C	SETX	NM_015046.7(SETX):c.498+268A>G	noncoding	Benign
9	132342676	A	G	A132342676G	SETX	NM_015046.7(SETX):c.498+14T>C	noncoding	Benign
9	132342941	G	T	G132342941T	SETX	NM_015046.7(SETX):c.389-142C>A	noncoding	Benign
9	132342956	A	G	A132342956G	SETX	NM_015046.7(SETX):c.389-157T>C	noncoding	Benign
9	132346210	G	A	G132346210A	SETX	NM_015046.7(SETX):c.388+51C>T	noncoding	Benign
9	132354713	G	A	G132354713A	SETX	NM_015046.7(SETX):c.-115+204C>T	noncoding	Benign
9	132896301	C	G	C132896301G	TSC1	NM_000368.5(TSC1):c.3429G>C:p.Pro1143=	coding	Benign/Likely_benign
9	132896301	C	T	C132896301T	TSC1	NM_000368.5(TSC1):c.3429G>A:p.Pro1143=	coding	Benign/Likely_benign
9	132896311	G	A	G132896311A	TSC1	NM_000368.5(TSC1):c.3419C>T:p.Pro1140Leu	coding	Benign/Likely_benign
9	132896333	G	A	G132896333A	TSC1	NM_000368.5(TSC1):c.3397C>T:p.Leu1133=	coding	Benign/Likely_benign
9	132896334	G	A	G132896334A	TSC1	NM_000368.5(TSC1):c.3396C>T:p.Pro1132=	coding	Benign/Likely_benign
9	132896349	C	T	C132896349T	TSC1	NM_000368.5(TSC1):c.3381G>A:p.Val1127=	coding	Benign/Likely_benign
9	132896366	C	T	C132896366T	TSC1	NM_000368.5(TSC1):c.3364G>A:p.Gly1122Ser	coding	Benign/Likely_benign
9	132896408	C	T	C132896408T	TSC1	NM_000368.5(TSC1):c.3322G>A:p.Gly1108Ser	coding	Benign/Likely_benign
9	132896409	G	A	G132896409A	TSC1	NM_000368.5(TSC1):c.3321C>T:p.Asp1107=	coding	Benign/Likely_benign
9	132896430	G	A	G132896430A	TSC1	NM_000368.5(TSC1):c.3300C>T:p.Ser1100=	coding	Benign/Likely_benign
9	132896440	C	T	C132896440T	TSC1	NM_000368.5(TSC1):c.3290G>A:p.Arg1097His	coding	Benign/Likely_benign
9	132896481	A	G	A132896481G	TSC1	NM_000368.5(TSC1):c.3249T>C:p.Ser1083=	coding	Benign/Likely_benign
9	132896493	G	A	G132896493A	TSC1	NM_000368.5(TSC1):c.3237C>T:p.Gly1079=	coding	Benign/Likely_benign
9	132896502	G	A	G132896502A	TSC1	NM_000368.5(TSC1):c.3228C>T:p.Thr1076=	coding	Benign/Likely_benign
9	132896523	T	C	T132896523C	TSC1	NM_000368.5(TSC1):c.3207A>G:p.Glu1069=	coding	Benign/Likely_benign
9	132896571	G	A	G132896571A	TSC1	NM_000368.5(TSC1):c.3159C>T:p.His1053=	coding	Benign/Likely_benign
9	132896590	G	A	G132896590A	TSC1	NM_000368.5(TSC1):c.3140C>T:p.Thr1047Ile	coding	Benign/Likely_benign
9	132896597	G	C	G132896597C	TSC1	NM_000368.5(TSC1):c.3133C>G:p.Leu1045Val	coding	Benign/Likely_benign
9	132896650	C	T	C132896650T	TSC1	NM_000368.5(TSC1):c.3080G>A:p.Arg1027Gln	coding	Benign/Likely_benign
9	132896655	G	A	G132896655A	TSC1	NM_000368.5(TSC1):c.3075C>T:p.Ser1025=	coding	Benign/Likely_benign
9	132896670	G	A	G132896670A	TSC1	NM_000368.5(TSC1):c.3060C>T:p.Thr1020=	coding	Benign/Likely_benign
9	132896698	G	T	G132896698T	TSC1	NM_000368.5(TSC1):c.3032C>A:p.Ala1011Glu	coding	Benign/Likely_benign
9	132896797	C	G	C132896797G	TSC1	NM_000368.5(TSC1):c.2976-43G>C	noncoding	Benign
9	132897083	T	C	T132897083C	TSC1	NM_000368.5(TSC1):c.2975+101A>G	noncoding	Benign
9	132897195	T	C	T132897195C	TSC1	NM_000368.5(TSC1):c.2964A>G:p.Ala988=	coding	Benign/Likely_benign
9	132897335	G	A	G132897335A	TSC1	NM_000368.5(TSC1):c.2824C>T:p.Gln942Ter	coding	Pathogenic
9	132897449	A	G	A132897449G	TSC1	NM_000368.5(TSC1):c.2787T>C:p.Tyr929=	coding	Benign/Likely_benign
9	132897460	G	A	G132897460A	TSC1	NM_000368.5(TSC1):c.2776C>T:p.Gln926Ter	coding	Pathogenic
9	132897470	A	C	A132897470C	TSC1	NM_000368.5(TSC1):c.2766T>G:p.Leu922=	coding	Benign/Likely_benign
9	132897488	C	G	C132897488G	TSC1	NM_000368.5(TSC1):c.2748G>C:p.Leu916=	coding	Benign/Likely_benign
9	132897562	T	A	T132897562A	TSC1	NM_000368.5(TSC1):c.2674A>T:p.Arg892Ter	coding	Pathogenic
9	132897569	T	C	T132897569C	TSC1	NM_000368.5(TSC1):c.2667A>G:p.Glu889=	coding	Benign/Likely_benign
9	132897578	T	C	T132897578C	TSC1	NM_000368.5(TSC1):c.2658A>G:p.Lys886=	coding	Benign/Likely_benign
9	132897583	G	A	G132897583A	TSC1	NM_000368.5(TSC1):c.2653C>T:p.Arg885Trp	coding	Benign/Likely_benign
9	132897590	G	A	G132897590A	TSC1	NM_000368.5(TSC1):c.2646C>T:p.Ala882=	coding	Benign/Likely_benign
9	132897604	C	A	C132897604A	TSC1	NM_000368.5(TSC1):c.2632G>T:p.Glu878Ter	coding	Pathogenic
9	132897614	A	G	A132897614G	TSC1	NM_000368.5(TSC1):c.2626-4T>C	noncoding	Benign/Likely_benign
9	132897727	C	T	C132897727T	TSC1	NM_000368.5(TSC1):c.2626-117G>A	noncoding	Benign
9	132897777	C	T	C132897777T	TSC1	NM_000368.5(TSC1):c.2626-167G>A	noncoding	Benign
9	132900143	T	C	T132900143C	TSC1	NM_000368.5(TSC1):c.2625+572A>G	noncoding	Benign
9	132900348	T	C	T132900348C	TSC1	NM_000368.5(TSC1):c.2625+367A>G	noncoding	Pathogenic/Likely_pathogenic
9	132900696	C	T	C132900696T	TSC1	NM_000368.5(TSC1):c.2625+19G>A	noncoding	Benign/Likely_benign
9	132900728	G	C	G132900728C	TSC1	NM_000368.5(TSC1):c.2612C>G:p.Ser871Ter	coding	Pathogenic
9	132900741	G	A	G132900741A	TSC1	NM_000368.5(TSC1):c.2599C>T:p.Gln867Ter	coding	Pathogenic
9	132900763	G	A	G132900763A	TSC1	NM_000368.5(TSC1):c.2577C>T:p.Asn859=	coding	Benign/Likely_benign
9	132900832	T	G	T132900832G	TSC1	NM_000368.5(TSC1):c.2508A>C:p.Ser836=	coding	Benign/Likely_benign
9	132900838	C	G	C132900838G	TSC1	NM_000368.5(TSC1):c.2503-1G>C	coding	Pathogenic
9	132900954	C	A	C132900954A	TSC1	NM_000368.5(TSC1):c.2503-117G>T	noncoding	Benign
9	132901458	G	A	G132901458A	TSC1	NM_000368.5(TSC1):c.2502+131C>T	noncoding	Benign
9	132901592	T	C	T132901592C	TSC1	NM_000368.5(TSC1):c.2499A>G:p.Gln833=	coding	Benign/Likely_benign
9	132901643	C	T	C132901643T	TSC1	NM_000368.5(TSC1):c.2448G>A:p.Lys816=	coding	Benign/Likely_benign
9	132901679	C	T	C132901679T	TSC1	NM_000368.5(TSC1):c.2412G>A:p.Arg804=	coding	Benign/Likely_benign
9	132901697	C	T	C132901697T	TSC1	NM_000368.5(TSC1):c.2394G>A:p.Thr798=	coding	Benign/Likely_benign
9	132902622	G	A	G132902622A	TSC1	NM_000368.5(TSC1):c.2374C>T:p.Gln792Ter	coding	Pathogenic
9	132902658	T	A	T132902658A	TSC1	NM_000368.5(TSC1):c.2338A>T:p.Arg780Ter	coding	Pathogenic/Likely_pathogenic
9	132902674	C	T	C132902674T	TSC1	NM_000368.5(TSC1):c.2322G>A:p.Lys774=	coding	Benign/Likely_benign
9	132902689	G	A	G132902689A	TSC1	NM_000368.5(TSC1):c.2307C>T:p.Asp769=	coding	Benign/Likely_benign
9	132902728	T	C	T132902728C	TSC1	NM_000368.5(TSC1):c.2268A>G:p.Lys756=	coding	Benign/Likely_benign
9	132902761	C	T	C132902761T	TSC1	NM_000368.5(TSC1):c.2235G>A:p.Lys745=	coding	Benign/Likely_benign
9	132903440	C	T	C132903440T	TSC1	NM_000368.5(TSC1):c.2208+211G>A	noncoding	Benign
9	132903663	A	G	A132903663G	TSC1	NM_000368.5(TSC1):c.2196T>C:p.His732=	coding	Benign/Likely_benign
9	132903664	T	C	T132903664C	TSC1	NM_000368.5(TSC1):c.2195A>G:p.His732Arg	coding	Benign/Likely_benign
9	132903668	C	A	C132903668A	TSC1	NM_000368.5(TSC1):c.2191G>T:p.Glu731Ter	coding	Pathogenic
9	132903710	T	G	T132903710G	TSC1	NM_000368.5(TSC1):c.2149A>C:p.Arg717=	coding	Benign/Likely_benign
9	132903779	G	A	G132903779A	TSC1	NM_000368.5(TSC1):c.2080C>T:p.Gln694Ter	coding	Pathogenic
9	132903793	C	T	C132903793T	TSC1	NM_000368.5(TSC1):c.2066G>A:p.Arg689His	coding	Benign/Likely_benign
9	132904143	T	C	T132904143C	TSC1	NM_000368.5(TSC1):c.2041+268A>G	noncoding	Benign
9	132904409	A	G	A132904409G	TSC1	NM_000368.5(TSC1):c.2041+2T>C	noncoding	Pathogenic
9	132904411	C	T	C132904411T	TSC1	NM_000368.5(TSC1):c.2041G>A:p.Gly681Ser	coding	Pathogenic
9	132904430	G	A	G132904430A	TSC1	NM_000368.5(TSC1):c.2022C>T:p.Val674=	coding	Benign/Likely_benign
9	132904430	G	C	G132904430C	TSC1	NM_000368.5(TSC1):c.2022C>G:p.Val674=	coding	Benign/Likely_benign
9	132905601	C	T	C132905601T	TSC1	NM_000368.5(TSC1):c.1977G>A:p.Ala659=	coding	Benign/Likely_benign
9	132905603	C	T	C132905603T	TSC1	NM_000368.5(TSC1):c.1975G>A:p.Ala659Thr	coding	Benign/Likely_benign
9	132905612	C	A	C132905612A	TSC1	NM_000368.5(TSC1):c.1966G>T:p.Gly656Ter	coding	Pathogenic
9	132905690	T	A	T132905690A	TSC1	NM_000368.5(TSC1):c.1888A>T:p.Lys630Ter	coding	Pathogenic
9	132905766	A	C	A132905766C	TSC1	NM_000368.5(TSC1):c.1812T>G:p.Tyr604Ter	coding	Pathogenic
9	132905769	C	A	C132905769A	TSC1	NM_000368.5(TSC1):c.1809G>T:p.Pro603=	coding	Benign/Likely_benign
9	132905769	C	T	C132905769T	TSC1	NM_000368.5(TSC1):c.1809G>A:p.Pro603=	coding	Benign/Likely_benign
9	132905783	C	T	C132905783T	TSC1	NM_000368.5(TSC1):c.1795G>A:p.Gly599Arg	coding	Benign/Likely_benign
9	132905799	T	C	T132905799C	TSC1	NM_000368.5(TSC1):c.1779A>G:p.Arg593=	coding	Benign/Likely_benign
9	132905802	C	T	C132905802T	TSC1	NM_000368.5(TSC1):c.1776G>A:p.Thr592=	coding	Benign/Likely_benign
9	132905829	G	A	G132905829A	TSC1	NM_000368.5(TSC1):c.1749C>T:p.Pro583=	coding	Benign/Likely_benign
9	132905904	G	A	G132905904A	TSC1	NM_000368.5(TSC1):c.1674C>T:p.Pro558=	coding	Benign/Likely_benign
9	132905947	C	T	C132905947T	TSC1	NM_000368.5(TSC1):c.1631G>A:p.Gly544Glu	coding	Benign/Likely_benign
9	132905967	G	A	G132905967A	TSC1	NM_000368.5(TSC1):c.1611C>T:p.His537=	coding	Benign/Likely_benign
9	132905982	G	A	G132905982A	TSC1	NM_000368.5(TSC1):c.1596C>T:p.Asn532=	coding	Benign/Likely_benign
9	132905998	T	C	T132905998C	TSC1	NM_000368.5(TSC1):c.1580A>G:p.Gln527Arg	coding	Benign/Likely_benign
9	132906009	G	A	G132906009A	TSC1	NM_000368.5(TSC1):c.1569C>T:p.Ala523=	coding	Benign/Likely_benign
9	132906015	C	T	C132906015T	TSC1	NM_000368.5(TSC1):c.1563G>A:p.Ser521=	coding	Benign/Likely_benign
9	132906128	T	A	T132906128A	TSC1	NM_000368.5(TSC1):c.1450A>T:p.Arg484Ter	coding	Pathogenic
9	132906143	A	G	A132906143G	TSC1	NM_000368.5(TSC1):c.1439-4T>C	noncoding	Benign/Likely_benign
9	132906322	G	C	G132906322C	TSC1	NM_000368.5(TSC1):c.1439-183C>G	noncoding	Benign
9	132906348	C	G	C132906348G	TSC1	NM_000368.5(TSC1):c.1439-209G>C	noncoding	Benign
9	132906639	C	A	C132906639A	TSC1	NM_000368.5(TSC1):c.1438+92G>T	noncoding	Benign
9	132906737	C	A	C132906737A	TSC1	NM_000368.5(TSC1):c.1432G>T:p.Glu478Ter	coding	Pathogenic
9	132906800	T	G	T132906800G	TSC1	NM_000368.5(TSC1):c.1369A>C:p.Ser457Arg	coding	Benign/Likely_benign
9	132906825	A	C	A132906825C	TSC1	NM_000368.5(TSC1):c.1344T>G:p.Pro448=	coding	Benign/Likely_benign
9	132906831	C	T	C132906831T	TSC1	NM_000368.5(TSC1):c.1338G>A:p.Glu446=	coding	Benign/Likely_benign
9	132906890	G	C	G132906890C	TSC1	NM_000368.5(TSC1):c.1334-55C>G	noncoding	Benign
9	132907092	G	A	G132907092A	TSC1	NM_000368.5(TSC1):c.1333+209C>T	noncoding	Benign
9	132907287	C	T	C132907287T	TSC1	NM_000368.5(TSC1):c.1333+14G>A	noncoding	Benign/Likely_benign
9	132907288	G	A	G132907288A	TSC1	NM_000368.5(TSC1):c.1333+13C>T	noncoding	Benign/Likely_benign
9	132907292	A	T	A132907292T	TSC1	NM_000368.5(TSC1):c.1333+9T>A	noncoding	Benign/Likely_benign
9	132907317	C	G	C132907317G	TSC1	NM_000368.5(TSC1):c.1317G>C:p.Leu439=	coding	Benign/Likely_benign
9	132907338	T	G	T132907338G	TSC1	NM_000368.5(TSC1):c.1296A>C:p.Leu432=	coding	Benign/Likely_benign
9	132907361	T	C	T132907361C	TSC1	NM_000368.5(TSC1):c.1273A>G:p.Met425Val	coding	Benign/Likely_benign
9	132907382	A	G	A132907382G	TSC1	NM_000368.5(TSC1):c.1264-12T>C	noncoding	Benign/Likely_benign
9	132910256	G	A	G132910256A	TSC1	NM_000368.5(TSC1):c.1263+315C>T	noncoding	Benign
9	132910586	G	A	G132910586A	TSC1	NM_000368.5(TSC1):c.1248C>T:p.Val416=	coding	Benign/Likely_benign
9	132910626	G	A	G132910626A	TSC1	NM_000368.5(TSC1):c.1208C>T:p.Ser403Leu	coding	Benign/Likely_benign
9	132910634	G	C	G132910634C	TSC1	NM_000368.5(TSC1):c.1200C>G:p.Leu400=	coding	Benign/Likely_benign
9	132910643	T	C	T132910643C	TSC1	NM_000368.5(TSC1):c.1191A>G:p.Pro397=	coding	Benign/Likely_benign
9	132911027	A	G	A132911027G	TSC1	NM_000368.5(TSC1):c.1116T>C:p.Pro372=	coding	Benign/Likely_benign
9	132911092	T	C	T132911092C	TSC1	NM_000368.5(TSC1):c.1051A>G:p.Met351Val	coding	Benign/Likely_benign
9	132911102	C	T	C132911102T	TSC1	NM_000368.5(TSC1):c.1041G>A:p.Trp347Ter	coding	Pathogenic
9	132911115	T	C	T132911115C	TSC1	NM_000368.5(TSC1):c.1030-2A>G	noncoding	Pathogenic
9	132911455	G	A	G132911455A	TSC1	NM_000368.5(TSC1):c.1027C>T:p.Gln343Ter	coding	Pathogenic
9	132911552	G	A	G132911552A	TSC1	NM_000368.5(TSC1):c.930C>T:p.Thr310=	coding	Benign/Likely_benign
9	132912274	C	G	C132912274G	TSC1	NM_000368.5(TSC1):c.913+8G>C	noncoding	Benign/Likely_benign
9	132912304	A	C	A132912304C	TSC1	NM_000368.5(TSC1):c.891T>G:p.Tyr297Ter	coding	Pathogenic
9	132912313	G	A	G132912313A	TSC1	NM_000368.5(TSC1):c.882C>T:p.Thr294=	coding	Benign/Likely_benign
9	132912325	G	A	G132912325A	TSC1	NM_000368.5(TSC1):c.870C>T:p.Ala290=	coding	Benign/Likely_benign
9	132912325	G	C	G132912325C	TSC1	NM_000368.5(TSC1):c.870C>G:p.Ala290=	coding	Benign/Likely_benign
9	132912333	G	A	G132912333A	TSC1	NM_000368.5(TSC1):c.862C>T:p.Arg288Cys	coding	Benign/Likely_benign
9	132912413	T	C	T132912413C	TSC1	NM_000368.5(TSC1):c.782A>G:p.Lys261Arg	coding	Benign/Likely_benign
9	132912430	A	C	A132912430C	TSC1	NM_000368.5(TSC1):c.765T>G:p.Val255=	coding	Benign/Likely_benign
9	132915716	G	A	G132915716A	TSC1	NM_000368.5(TSC1):c.738-3259C>T	noncoding	Benign
9	132921221	A	C	A132921221C	TSC1	NM_000368.5(TSC1):c.737+142T>G	noncoding	Benign
9	132921343	T	C	T132921343C	TSC1	NM_000368.5(TSC1):c.737+20A>G	noncoding	Benign
9	132921379	C	A	C132921379A	TSC1	NM_000368.5(TSC1):c.721G>T:p.Glu241Ter	coding	Pathogenic
9	132921404	T	C	T132921404C	TSC1	NM_000368.5(TSC1):c.696A>G:p.Glu232=	coding	Benign/Likely_benign
9	132921406	C	A	C132921406A	TSC1	NM_000368.5(TSC1):c.694G>T:p.Glu232Ter	coding	Pathogenic
9	132921822	G	A	G132921822A	TSC1	NM_000368.5(TSC1):c.660C>T:p.Val220=	coding	Benign/Likely_benign
9	132921831	T	C	T132921831C	TSC1	NM_000368.5(TSC1):c.651A>G:p.Glu217=	coding	Benign/Likely_benign
9	132921857	T	C	T132921857C	TSC1	NM_000368.5(TSC1):c.625A>G:p.Met209Val	coding	Benign/Likely_benign
9	132921889	T	C	T132921889C	TSC1	NM_000368.5(TSC1):c.593A>G:p.Asn198Ser	coding	Benign/Likely_benign
9	132921897	G	C	G132921897C	TSC1	NM_000368.5(TSC1):c.585C>G:p.Tyr195Ter	coding	Pathogenic
9	132921910	A	C	A132921910C	TSC1	NM_000368.5(TSC1):c.572T>G:p.Leu191Arg	coding	Pathogenic
9	132921933	A	G	A132921933G	TSC1	NM_000368.5(TSC1):c.549T>C:p.Ser183=	coding	Benign/Likely_benign
9	132921951	G	A	G132921951A	TSC1	NM_000368.5(TSC1):c.531C>T:p.Leu177=	coding	Benign/Likely_benign
9	132923346	A	G	A132923346G	TSC1	NM_000368.5(TSC1):c.508+2T>C	noncoding	Pathogenic
9	132923347	C	T	C132923347T	TSC1	NM_000368.5(TSC1):c.508+1G>A	noncoding	Pathogenic
9	132923371	G	T	G132923371T	TSC1	NM_000368.5(TSC1):c.485C>A:p.Ser162Ter	coding	Pathogenic
9	132923414	T	A	T132923414A	TSC1	NM_000368.5(TSC1):c.442A>T:p.Lys148Ter	coding	Pathogenic
9	132923454	C	T	C132923454T	TSC1	NM_000368.5(TSC1):c.402G>A:p.Leu134=	coding	Benign/Likely_benign
9	132923493	C	A	C132923493A	TSC1	NM_000368.5(TSC1):c.364-1G>T	coding	Pathogenic
9	132923493	C	G	C132923493G	TSC1	NM_000368.5(TSC1):c.364-1G>C	coding	Pathogenic
9	132924919	C	A	C132924919A	TSC1	NM_000368.5(TSC1):c.363+668G>T	noncoding	Pathogenic
9	132925587	C	G	C132925587G	TSC1	NM_000368.5(TSC1):c.363G>C:p.Lys121Asn	coding	Pathogenic
9	132925641	C	T	C132925641T	TSC1	NM_000368.5(TSC1):c.309G>A:p.Trp103Ter	coding	Pathogenic
9	132925642	C	T	C132925642T	TSC1	NM_000368.5(TSC1):c.308G>A:p.Trp103Ter	coding	Pathogenic
9	132925675	A	C	A132925675C	TSC1	NM_000368.5(TSC1):c.275T>G:p.Leu92Ter	coding	Pathogenic
9	132927229	A	G	A132927229G	TSC1	NM_000368.5(TSC1):c.182T>C:p.Leu61Pro	coding	Pathogenic
9	132927240	T	C	T132927240C	TSC1	NM_000368.5(TSC1):c.171A>G:p.Ala57=	coding	Benign/Likely_benign
9	132927248	G	A	G132927248A	TSC1	NM_000368.5(TSC1):c.163C>T:p.Gln55Ter	coding	Pathogenic
9	132927264	G	C	G132927264C	TSC1	NM_000368.5(TSC1):c.147C>G:p.Tyr49Ter	coding	Pathogenic
9	132927277	A	T	A132927277T	TSC1	NM_000368.5(TSC1):c.134T>A:p.Leu45Ter	coding	Pathogenic
9	132927278	A	G	A132927278G	TSC1	NM_000368.5(TSC1):c.133T>C:p.Leu45=	coding	Benign/Likely_benign
9	132927297	G	C	G132927297C	TSC1	NM_000368.5(TSC1):c.114C>G:p.Gly38=	coding	Benign/Likely_benign
9	132927452	T	G	T132927452G	TSC1	NM_000368.5(TSC1):c.107-148A>C	noncoding	Benign
9	132928801	G	A	G132928801A	TSC1	NM_000368.5(TSC1):c.72C>T:p.Asp24=	coding	Benign/Likely_benign
9	132928822	G	C	G132928822C	TSC1	NM_000368.5(TSC1):c.51C>G:p.Pro17=	coding	Benign/Likely_benign
9	132928828	G	A	G132928828A	TSC1	NM_000368.5(TSC1):c.45C>T:p.Asp15=	coding	Benign/Likely_benign
9	132928831	C	T	C132928831T	TSC1	NM_000368.5(TSC1):c.42G>A:p.Leu14=	coding	Benign/Likely_benign
9	132928840	A	G	A132928840G	TSC1	NM_000368.5(TSC1):c.33T>C:p.Leu11=	coding	Benign/Likely_benign
9	132935112	T	C	T132935112C	TSC1	NM_000368.5(TSC1):c.-143-17A>G	noncoding	Benign
9	132944745	G	T	G132944745T	TSC1	Single_allele	noncoding	Benign
9	132944772	C	T	C132944772T	TSC1	Single_allele	noncoding	Benign
9	132986611	T	G	T132986611G	GFI1B	NM_001377304.1(GFI1B):c.-20-48T>G	noncoding	Benign
9	132987092	G	A	G132987092A	GFI1B	NM_001377304.1(GFI1B):c.101-190G>A	noncoding	Benign
9	132987108	C	T	C132987108T	GFI1B	NM_001377304.1(GFI1B):c.101-174C>T	noncoding	Benign
9	132987205	A	C	A132987205C	GFI1B	NM_001377304.1(GFI1B):c.101-77A>C	noncoding	Benign
9	132987245	C	T	C132987245T	GFI1B	NM_001377304.1(GFI1B):c.101-37C>T	noncoding	Benign
9	132987329	T	C	T132987329C	GFI1B	NM_001377304.1(GFI1B):c.148T>C:p.Phe50Leu	coding	Benign
9	132987597	G	C	G132987597C	GFI1B	NM_001377304.1(GFI1B):c.238+178G>C	noncoding	Benign
9	132987600	T	C	T132987600C	GFI1B	NM_001377304.1(GFI1B):c.238+181T>C	noncoding	Benign
9	132987648	G	A	G132987648A	GFI1B	NM_001377304.1(GFI1B):c.238+229G>A	noncoding	Benign
9	132988188	T	A	T132988188A	GFI1B	NM_001377304.1(GFI1B):c.239-9T>A	noncoding	Benign
9	132988461	G	T	G132988461T	GFI1B	NM_001377304.1(GFI1B):c.503G>T:p.Cys168Phe	coding	Pathogenic
9	132988790	C	T	C132988790T	GFI1B	NM_001377304.1(GFI1B):c.511-271C>T	noncoding	Benign
9	132988803	A	C	A132988803C	GFI1B	NM_001377304.1(GFI1B):c.511-258A>C	noncoding	Benign
9	132988892	G	A	G132988892A	GFI1B	NM_001377304.1(GFI1B):c.511-169G>A	noncoding	Benign
9	132989049	C	G	C132989049G	GFI1B	NM_001377304.1(GFI1B):c.511-12C>G	noncoding	Benign
9	132989070	A	G	A132989070G	GFI1B	NM_001377304.1(GFI1B):c.520A>G:p.Thr174Ala	coding	Pathogenic
9	132989472	A	G	A132989472G	GFI1B	NM_001377304.1(GFI1B):c.649-270A>G	noncoding	Benign
9	132989785	G	T	G132989785T	GFI1B	NM_001377304.1(GFI1B):c.692G>T:p.Arg231Leu	coding	Pathogenic
9	132989908	G	A	G132989908A	GFI1B	NM_001377304.1(GFI1B):c.814+1G>A	coding	Pathogenic
9	132989972	A	G	A132989972G	GFI1B	NM_001377304.1(GFI1B):c.814+65A>G	noncoding	Benign
9	132990109	T	C	T132990109C	GFI1B	NM_001377304.1(GFI1B):c.814+202T>C	noncoding	Benign
9	132990767	C	T	C132990767T	GFI1B	NM_001377304.1(GFI1B):c.815-105C>T	noncoding	Benign
9	132991261	C	G	C132991261G	GFI1B	NM_001377304.1(GFI1B):c.*211C>G	noncoding	Benign
9	132991306	A	G	A132991306G	GFI1B	NM_001377304.1(GFI1B):c.*256A>G	noncoding	Benign
9	133061890	G	T	G133061890T	CEL	Single_allele	noncoding	Benign
9	133062056	G	A	G133062056A	CEL	NM_001807.6(CEL):c.54G>A:p.Ala18=	coding	Benign/Likely_benign
9	133062063	G	T	G133062063T	CEL	NM_001807.6(CEL):c.61G>T:p.Ala21Ser	coding	Benign/Likely_benign
9	133064283	A	C	A133064283C	CEL	NM_001807.6(CEL):c.67-121A>C	noncoding	Benign
9	133064759	C	T	C133064759T	CEL	NM_001807.6(CEL):c.337C>T:p.Gln113Ter	coding	Pathogenic
9	133065131	G	A	G133065131A	CEL	NM_001807.6(CEL):c.432G>A:p.Leu144=	coding	Benign
9	133068614	G	A	G133068614A	CEL	NM_001807.6(CEL):c.896-58G>A	noncoding	Benign
9	133068899	A	G	A133068899G	CEL	NM_001807.6(CEL):c.1082+41A>G	noncoding	Benign
9	133069137	C	T	C133069137T	CEL	NM_001807.6(CEL):c.1164C>T:p.Thr388=	coding	Benign
9	133069199	C	T	C133069199T	CEL	NM_001807.6(CEL):c.1226C>T:p.Thr409Ile	coding	Benign
9	133070413	C	T	C133070413T	CEL	NM_001807.6(CEL):c.1287-48C>T	noncoding	Benign
9	133070584	C	T	C133070584T	CEL	NM_001807.6(CEL):c.1410C>T:p.Pro470=	coding	Benign/Likely_benign
9	133070929	C	T	C133070929T	CEL	NM_001807.6(CEL):c.1485-58C>T	noncoding	Benign
9	133071003	G	C	G133071003C	CEL	NM_001807.6(CEL):c.1501G>C:p.Asp501His	coding	Benign
9	133071161	C	G	C133071161G	CEL	NM_001807.6(CEL):c.1659C>G:p.Thr553=	coding	Benign
9	133071212	C	T	C133071212T	CEL	NM_001807.6(CEL):c.1710C>T:p.Pro570=	coding	Benign
9	133071336	G	C	G133071336C	CEL	NM_001807.6(CEL):c.1834G>C:p.Ala612Pro	coding	Benign/Likely_benign
9	133351949	C	T	C133351949T	SURF1	NM_003172.4(SURF1):c.867G>A:p.Trp289Ter	coding	Pathogenic
9	133351995	A	G	A133351995G	SURF1	NM_003172.4(SURF1):c.834-13T>C	noncoding	Benign
9	133352034	G	A	G133352034A	SURF1	NM_003172.4(SURF1):c.833+27C>T	noncoding	Benign
9	133352207	T	A	T133352207A	SURF1	NM_003172.4(SURF1):c.752-65A>T	noncoding	Benign
9	133352705	G	A	G133352705A	SURF1	NM_003172.4(SURF1):c.577C>T:p.Gln193Ter	coding	Pathogenic
9	133352707	C	T	C133352707T	SURF1	NM_003172.4(SURF1):c.575G>A:p.Arg192Gln	coding	Pathogenic/Likely_pathogenic
9	133353473	G	A	G133353473A	SURF1	NM_003172.4(SURF1):c.515+276C>T	noncoding	Benign
9	133353536	T	C	T133353536C	SURF1	NM_003172.4(SURF1):c.515+213A>G	noncoding	Benign
9	133354822	A	G	A133354822G	SURF1	NM_003172.4(SURF1):c.240+2T>C	noncoding	Pathogenic
9	133356019	T	C	T133356019C	SURF1	NM_003172.4(SURF1):c.106+250A>G	noncoding	Benign
9	133356301	C	T	C133356301T	SURF1	NM_003172.4(SURF1):c.74G>A:p.Trp25Ter	coding	Pathogenic
9	133356364	G	A	G133356364A	SURF1	NM_003172.4(SURF1):c.54+36C>T	noncoding	Benign
9	133356665	C	T	C133356665T	SURF1	NM_017503.5(SURF2):c.73C>T:p.Arg25Cys	coding	Benign
9	133421761	G	A	G133421761A	ADAMTS13	Single_allele	noncoding	Benign
9	133422087	T	C	T133422087C	ADAMTS13	NM_139025.4(ADAMTS13):c.-357T>C	noncoding	Benign/Likely_benign
9	133422528	G	T	G133422528T	ADAMTS13	NM_139027.6(ADAMTS13):c.85G>T:p.Gly29Ter	coding	Pathogenic
9	133424110	C	G	C133424110G	ADAMTS13	NM_139027.6(ADAMTS13):c.173-211C>G	noncoding	Benign
9	133424172	A	G	A133424172G	ADAMTS13	NM_139027.6(ADAMTS13):c.173-149A>G	noncoding	Benign
9	133424254	T	C	T133424254C	ADAMTS13	NM_139027.6(ADAMTS13):c.173-67T>C	noncoding	Benign
9	133425487	T	C	T133425487C	ADAMTS13	NM_139027.6(ADAMTS13):c.331-42T>C	noncoding	Benign
9	133426474	G	A	G133426474A	ADAMTS13	NM_139027.6(ADAMTS13):c.686+129G>A	noncoding	Benign
9	133426501	A	T	A133426501T	ADAMTS13	NM_139027.6(ADAMTS13):c.686+156A>T	noncoding	Benign
9	133428784	C	T	C133428784T	ADAMTS13	NM_139027.6(ADAMTS13):c.824+13C>T	noncoding	Benign/Likely_benign
9	133429769	T	C	T133429769C	ADAMTS13	NM_139027.6(ADAMTS13):c.825-170T>C	noncoding	Benign
9	133430170	A	C	A133430170C	ADAMTS13	NM_139027.6(ADAMTS13):c.987+69A>C	noncoding	Benign
9	133430414	T	G	T133430414G	ADAMTS13	NM_139027.6(ADAMTS13):c.987+313T>G	noncoding	Benign
9	133432975	G	A	G133432975A	ADAMTS13	NM_139027.6(ADAMTS13):c.1092+283G>A	noncoding	Benign
9	133433011	T	G	T133433011G	ADAMTS13	NM_139027.6(ADAMTS13):c.1092+319T>G	noncoding	Benign
9	133433462	C	T	C133433462T	ADAMTS13	NM_139027.6(ADAMTS13):c.1177C>T:p.Arg393Ter	coding	Pathogenic
9	133436625	G	A	G133436625A	ADAMTS13	NM_139027.6(ADAMTS13):c.1309-204G>A	noncoding	Benign
9	133436835	G	T	G133436835T	ADAMTS13	NM_139027.6(ADAMTS13):c.1315G>T:p.Glu439Ter	coding	Pathogenic
9	133437088	G	A	G133437088A	ADAMTS13	NM_139027.6(ADAMTS13):c.1435+133G>A	noncoding	Benign
9	133438003	C	G	C133438003G	ADAMTS13	NM_139027.6(ADAMTS13):c.1584+106C>G	noncoding	Benign
9	133438133	T	C	T133438133C	ADAMTS13	NM_139027.6(ADAMTS13):c.1585-113T>C	noncoding	Benign
9	133438380	C	T	C133438380T	ADAMTS13	NM_139027.6(ADAMTS13):c.1705+14C>T	noncoding	Benign
9	133439111	G	C	G133439111C	ADAMTS13	NM_139027.6(ADAMTS13):c.1706-255G>C	noncoding	Benign
9	133439462	G	A	G133439462A	ADAMTS13	NM_139027.6(ADAMTS13):c.1786+16G>A	noncoding	Benign
9	133440154	A	G	A133440154G	ADAMTS13	NM_139027.6(ADAMTS13):c.1787-190A>G	noncoding	Benign
9	133440568	T	C	T133440568C	ADAMTS13	NM_139027.6(ADAMTS13):c.1968+43T>C	noncoding	Benign
9	133440617	C	G	C133440617G	ADAMTS13	NM_139027.6(ADAMTS13):c.1968+92C>G	noncoding	Benign
9	133442287	A	G	A133442287G	ADAMTS13	NM_139027.6(ADAMTS13):c.1969-112A>G	noncoding	Benign
9	133442704	C	T	C133442704T	ADAMTS13	NM_139027.6(ADAMTS13):c.2195C>T:p.Ala732Val	coding	Benign/Likely_benign
9	133443213	A	G	A133443213G	ADAMTS13	NM_139027.6(ADAMTS13):c.2235-163A>G	noncoding	Benign
9	133443675	C	G	C133443675G	ADAMTS13	NM_139027.6(ADAMTS13):c.2420+114C>G	noncoding	Benign
9	133444646	A	C	A133444646C	ADAMTS13	NM_139027.6(ADAMTS13):c.2421-217A>C	noncoding	Benign
9	133444720	A	T	A133444720T	ADAMTS13	NM_139027.6(ADAMTS13):c.2421-143A>T	noncoding	Benign
9	133445437	T	A	T133445437A	ADAMTS13	NM_139027.6(ADAMTS13):c.2611-262T>A	noncoding	Benign
9	133445552	G	A	G133445552A	ADAMTS13	NM_139027.6(ADAMTS13):c.2611-147G>A	noncoding	Benign
9	133445680	T	C	T133445680C	ADAMTS13	NM_139027.6(ADAMTS13):c.2611-19T>C	noncoding	Benign
9	133446051	C	T	C133446051T	ADAMTS13	NM_139027.6(ADAMTS13):c.2731+232C>T	noncoding	Benign
9	133448783	C	T	C133448783T	ADAMTS13	NM_139027.6(ADAMTS13):c.2861+55C>T	noncoding	Benign
9	133449511	G	C	G133449511C	ADAMTS13	NM_139027.6(ADAMTS13):c.2862-272G>C	noncoding	Benign
9	133449556	C	G	C133449556G	ADAMTS13	NM_139027.6(ADAMTS13):c.2862-227C>G	noncoding	Benign
9	133454166	G	C	G133454166C	ADAMTS13	NM_139027.6(ADAMTS13):c.3045-249G>C	noncoding	Benign
9	133454612	G	A	G133454612A	ADAMTS13	NM_139027.6(ADAMTS13):c.3242G>A:p.Trp1081Ter	coding	Pathogenic
9	133456150	T	C	T133456150C	ADAMTS13	NM_139027.6(ADAMTS13):c.3482T>C:p.Ile1161Thr	coding	Pathogenic
9	133458126	T	C	T133458126C	ADAMTS13	NM_139027.6(ADAMTS13):c.3909+32T>C	noncoding	Benign/Likely_benign
9	133458704	A	T	A133458704T	ADAMTS13	NM_139027.6(ADAMTS13):c.3910-270A>T	noncoding	Benign
9	133458723	G	C	G133458723C	ADAMTS13	NM_139027.6(ADAMTS13):c.3910-251G>C	noncoding	Benign
9	133514768	A	G	A133514768G	MYMK	NM_001080483.3(MYMK):c.534T>C:p.Tyr178=	coding	Benign
9	133514954	A	C	A133514954C	MYMK	NM_001080483.3(MYMK):c.517-169T>G	noncoding	Benign
9	133514993	A	C	A133514993C	MYMK	NM_001080483.3(MYMK):c.517-208T>G	noncoding	Benign
9	133518513	T	C	T133518513C	MYMK	NM_001080483.3(MYMK):c.399+361A>G	noncoding	Benign
9	133518847	G	C	G133518847C	MYMK	NM_001080483.3(MYMK):c.399+27C>G	noncoding	Benign
9	133519040	A	G	A133519040G	MYMK	NM_001080483.3(MYMK):c.251-18T>C	noncoding	Benign
9	133519966	A	C	A133519966C	MYMK	NM_001080483.3(MYMK):c.250+208T>G	noncoding	Benign
9	133520315	A	G	A133520315G	MYMK	NM_001080483.3(MYMK):c.136-27T>C	noncoding	Benign
9	133520331	A	G	A133520331G	MYMK	NM_001080483.3(MYMK):c.136-43T>C	noncoding	Benign
9	133520432	G	A	G133520432A	MYMK	NM_001080483.3(MYMK):c.136-144C>T	noncoding	Benign
9	133524531	T	C	T133524531C	MYMK	NM_001080483.3(MYMK):c.135+179A>G	noncoding	Benign
9	133524629	A	C	A133524629C	MYMK	NM_001080483.3(MYMK):c.135+81T>G	noncoding	Benign
9	133524893	A	G	A133524893G	MYMK	NM_001080483.3(MYMK):c.-49T>C	noncoding	Benign
9	133524994	T	G	T133524994G	MYMK	Single_allele	noncoding	Benign
9	133536322	C	G	C133536322G	ADAMTSL2	NM_014694.4(ADAMTSL2):c.-150-241C>G	noncoding	Benign
9	133536945	G	T	G133536945T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.90+143G>T	noncoding	Benign
9	133538440	G	T	G133538440T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.309+16G>T	noncoding	Benign
9	133539920	T	A	T133539920A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.412+47T>A	noncoding	Benign
9	133540118	C	G	C133540118G	ADAMTSL2	NM_014694.4(ADAMTSL2):c.412+245C>G	noncoding	Benign
9	133540399	G	A	G133540399A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.413-199G>A	noncoding	Benign
9	133540843	C	A	C133540843A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.559-35C>A	noncoding	Benign
9	133541087	T	G	T133541087G	ADAMTSL2	NM_014694.4(ADAMTSL2):c.682+86T>G	noncoding	Benign
9	133547476	C	T	C133547476T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.939+263C>T	noncoding	Benign
9	133547512	A	T	A133547512T	ADAMTSL2	NM_014694.4(ADAMTSL2):c.939+299A>T	noncoding	Benign
9	133547516	A	G	A133547516G	ADAMTSL2	NM_014694.4(ADAMTSL2):c.939+303A>G	noncoding	Benign
9	133636819	G	C	G133636819C	DBH	NM_000787.4(DBH):c.339+109G>C	noncoding	Benign
9	133639801	C	T	C133639801T	DBH	NM_000787.4(DBH):c.340-45C>T	noncoding	Benign
9	133640119	A	G	A133640119G	DBH	NM_000787.4(DBH):c.486+127A>G	noncoding	Benign
9	133642179	G	A	G133642179A	DBH	NM_000787.4(DBH):c.487-28G>A	noncoding	Benign
9	133642514	C	T	C133642514T	DBH	NM_000787.4(DBH):c.744+50C>T	noncoding	Benign
9	133642620	A	G	A133642620G	DBH	NM_000787.4(DBH):c.744+156A>G	noncoding	Benign
9	133643642	C	T	C133643642T	DBH	NM_000787.4(DBH):c.921+53C>T	noncoding	Benign
9	133643778	T	G	T133643778G	DBH	NM_000787.4(DBH):c.921+189T>G	noncoding	Benign
9	133644153	G	T	G133644153T	DBH	NM_000787.4(DBH):c.922-65G>T	noncoding	Benign
9	133644190	C	T	C133644190T	DBH	NM_000787.4(DBH):c.922-28C>T	noncoding	Benign
9	133644392	G	A	G133644392A	DBH	NM_000787.4(DBH):c.1024+72G>A	noncoding	Benign
9	133644466	C	T	C133644466T	DBH	NM_000787.4(DBH):c.1024+146C>T	noncoding	Benign
9	133644499	C	T	C133644499T	DBH	NM_000787.4(DBH):c.1024+179C>T	noncoding	Benign
9	133644512	T	C	T133644512C	DBH	NM_000787.4(DBH):c.1024+192T>C	noncoding	Benign
9	133644557	C	G	C133644557G	DBH	NM_000787.4(DBH):c.1024+237C>G	noncoding	Benign
9	133647784	G	A	G133647784A	DBH	NM_000787.4(DBH):c.1025-62G>A	noncoding	Benign
9	133648061	T	C	T133648061C	DBH	NM_000787.4(DBH):c.1191+49T>C	noncoding	Benign
9	133648081	C	G	C133648081G	DBH	NM_000787.4(DBH):c.1191+69C>G	noncoding	Benign
9	133651448	C	A	C133651448A	DBH	NM_000787.4(DBH):c.1192-186C>A	noncoding	Benign
9	133651453	G	A	G133651453A	DBH	NM_000787.4(DBH):c.1192-181G>A	noncoding	Benign
9	133651887	T	C	T133651887C	DBH	NM_000787.4(DBH):c.1335+110T>C	noncoding	Benign
9	133652000	G	A	G133652000A	DBH	NM_000787.4(DBH):c.1335+223G>A	noncoding	Benign
9	133652024	A	C	A133652024C	DBH	NM_000787.4(DBH):c.1336-222A>C	noncoding	Benign
9	133652027	A	G	A133652027G	DBH	NM_000787.4(DBH):c.1336-219A>G	noncoding	Benign
9	133652029	C	G	C133652029G	DBH	NM_000787.4(DBH):c.1336-217C>G	noncoding	Benign
9	133652860	G	A	G133652860A	DBH	NM_000787.4(DBH):c.1375-80G>A	noncoding	Benign
9	133652886	G	A	G133652886A	DBH	NM_000787.4(DBH):c.1375-54G>A	noncoding	Benign
9	133656438	T	C	T133656438C	DBH	NM_000787.4(DBH):c.1435-85T>C	coding	Benign
9	133656475	C	T	C133656475T	DBH	NM_000787.4(DBH):c.1435-48C>T	coding	Benign
9	133657304	T	C	T133657304C	DBH	NM_000787.4(DBH):c.1722+75T>C	coding	Benign
9	133708290	G	A	G133708290A	SARDH	NM_001134707.2(SARDH):c.1467C>T:p.His489=	coding	Benign
9	134642188	A	G	A134642188G	COL5A1	NM_000093.5(COL5A1):c.1A>G:p.Met1Val	coding	Pathogenic
9	134642261	T	G	T134642261G	COL5A1	NM_000093.5(COL5A1):c.74T>G:p.Leu25Arg	coding	Pathogenic
9	134642296	G	C	G134642296C	COL5A1	NM_000093.5(COL5A1):c.109G>C:p.Ala37Pro	coding	Pathogenic
9	134691088	C	T	C134691088T	COL5A1	NM_000093.5(COL5A1):c.277+9C>T	noncoding	Benign
9	134691136	A	G	A134691136G	COL5A1	NM_000093.5(COL5A1):c.277+57A>G	noncoding	Benign
9	134691153	A	G	A134691153G	COL5A1	NM_000093.5(COL5A1):c.277+74A>G	noncoding	Benign
9	134699968	C	T	C134699968T	COL5A1	NM_000093.5(COL5A1):c.337C>T:p.Gln113Ter	coding	Pathogenic
9	134700330	T	A	T134700330A	COL5A1	NM_000093.5(COL5A1):c.491+208T>A	noncoding	Benign
9	134701322	G	T	G134701322T	COL5A1	NM_000093.5(COL5A1):c.643G>T:p.Glu215Ter	coding	Pathogenic
9	134701498	T	G	T134701498G	COL5A1	NM_000093.5(COL5A1):c.654+165T>G	noncoding	Benign
9	134701534	C	T	C134701534T	COL5A1	NM_000093.5(COL5A1):c.654+201C>T	noncoding	Benign
9	134727402	G	A	G134727402A	COL5A1	NM_000093.5(COL5A1):c.786+5G>A	noncoding	Pathogenic
9	134730460	C	T	C134730460T	COL5A1	NM_000093.5(COL5A1):c.1149C>T:p.Thr383=	coding	Benign
9	134738714	T	C	T134738714C	COL5A1	NM_000093.5(COL5A1):c.1432-32T>C	noncoding	Benign
9	134750531	C	A	C134750531A	COL5A1	NM_000093.5(COL5A1):c.1495-11C>A	noncoding	Benign/Likely_benign
9	134750635	C	T	C134750635T	COL5A1	NM_000093.5(COL5A1):c.1569+19C>T	noncoding	Benign
9	134750643	G	C	G134750643C	COL5A1	NM_000093.5(COL5A1):c.1569+27G>C	noncoding	Benign
9	134751016	T	C	T134751016C	COL5A1	NM_000093.5(COL5A1):c.1662+134T>C	noncoding	Benign
9	134752352	G	A	G134752352A	COL5A1	NM_000093.5(COL5A1):c.1663-237G>A	noncoding	Benign
9	134752423	G	T	G134752423T	COL5A1	NM_000093.5(COL5A1):c.1663-166G>T	noncoding	Benign
9	134752429	G	T	G134752429T	COL5A1	NM_000093.5(COL5A1):c.1663-160G>T	noncoding	Benign
9	134754142	C	T	C134754142T	COL5A1	NM_000093.5(COL5A1):c.1774-131C>T	noncoding	Benign
9	134754288	C	T	C134754288T	COL5A1	NM_000093.5(COL5A1):c.1789C>T:p.Gln597Ter	coding	Pathogenic
9	134758187	G	A	G134758187A	COL5A1	NM_000093.5(COL5A1):c.1882-56G>A	noncoding	Benign
9	134761698	C	T	C134761698T	COL5A1	NM_000093.5(COL5A1):c.1936-227C>T	noncoding	Benign
9	134761779	T	C	T134761779C	COL5A1	NM_000093.5(COL5A1):c.1936-146T>C	noncoding	Benign
9	134761806	G	T	G134761806T	COL5A1	NM_000093.5(COL5A1):c.1936-119G>T	noncoding	Benign
9	134761817	G	A	G134761817A	COL5A1	NM_000093.5(COL5A1):c.1936-108G>A	noncoding	Benign
9	134761871	A	C	A134761871C	COL5A1	NM_000093.5(COL5A1):c.1936-54A>C	noncoding	Benign
9	134761960	G	A	G134761960A	COL5A1	NM_000093.5(COL5A1):c.1971G>A:p.Pro657=	coding	Benign
9	134763584	C	T	C134763584T	COL5A1	NM_000093.5(COL5A1):c.1990-109C>T	noncoding	Benign
9	134763891	G	A	G134763891A	COL5A1	NM_000093.5(COL5A1):c.2034+154G>A	noncoding	Benign
9	134765807	G	A	G134765807A	COL5A1	NM_000093.5(COL5A1):c.2088+73G>A	noncoding	Benign
9	134765825	C	T	C134765825T	COL5A1	NM_000093.5(COL5A1):c.2088+91C>T	noncoding	Benign
9	134765965	C	G	C134765965G	COL5A1	NM_000093.5(COL5A1):c.2088+231C>G	noncoding	Benign
9	134766244	A	G	A134766244G	COL5A1	NM_000093.5(COL5A1):c.2089-210A>G	noncoding	Benign
9	134766734	G	A	G134766734A	COL5A1	NM_000093.5(COL5A1):c.2133+236G>A	noncoding	Benign
9	134766775	C	T	C134766775T	COL5A1	NM_000093.5(COL5A1):c.2134-225C>T	noncoding	Benign
9	134766876	G	A	G134766876A	COL5A1	NM_000093.5(COL5A1):c.2134-124G>A	noncoding	Benign
9	134767159	A	T	A134767159T	COL5A1	NM_000093.5(COL5A1):c.2187+106A>T	noncoding	Benign
9	134768268	G	C	G134768268C	COL5A1	NM_000093.5(COL5A1):c.2233-142G>C	noncoding	Benign
9	134772587	C	T	C134772587T	COL5A1	NM_000093.5(COL5A1):c.2287-203C>T	noncoding	Benign
9	134772974	G	A	G134772974A	COL5A1	NM_000093.5(COL5A1):c.2331+140G>A	noncoding	Benign
9	134779928	C	T	C134779928T	COL5A1	NM_000093.5(COL5A1):c.2386-174C>T	noncoding	Benign
9	134779968	A	G	A134779968G	COL5A1	NM_000093.5(COL5A1):c.2386-134A>G	noncoding	Benign
9	134782495	T	C	T134782495C	COL5A1	NM_000093.5(COL5A1):c.2431-172T>C	noncoding	Benign
9	134782545	A	G	A134782545G	COL5A1	NM_000093.5(COL5A1):c.2431-122A>G	noncoding	Benign
9	134782916	T	C	T134782916C	COL5A1	NM_000093.5(COL5A1):c.2484+196T>C	noncoding	Benign
9	134784949	C	T	C134784949T	COL5A1	NM_000093.5(COL5A1):c.2485-40C>T	noncoding	Benign
9	134784956	T	G	T134784956G	COL5A1	NM_000093.5(COL5A1):c.2485-33T>G	noncoding	Benign
9	134785171	G	A	G134785171A	COL5A1	NM_000093.5(COL5A1):c.2592+75G>A	noncoding	Benign
9	134785244	T	G	T134785244G	COL5A1	NM_000093.5(COL5A1):c.2592+148T>G	noncoding	Benign
9	134786174	T	C	T134786174C	COL5A1	NM_000093.5(COL5A1):c.2646+126T>C	noncoding	Benign
9	134796391	C	T	C134796391T	COL5A1	NM_000093.5(COL5A1):c.2817C>T:p.Asp939=	coding	Benign/Likely_benign
9	134797064	G	T	G134797064T	COL5A1	NM_000093.5(COL5A1):c.2898+163G>T	noncoding	Benign
9	134797080	C	T	C134797080T	COL5A1	NM_000093.5(COL5A1):c.2898+179C>T	noncoding	Benign
9	134801953	G	A	G134801953A	COL5A1	NM_000093.5(COL5A1):c.2953-1G>A	noncoding	Pathogenic
9	134802024	C	T	C134802024T	COL5A1	NM_000093.5(COL5A1):c.3006+17C>T	noncoding	Benign/Likely_benign
9	134802186	C	A	C134802186A	COL5A1	NM_000093.5(COL5A1):c.3006+179C>A	noncoding	Benign
9	134802672	G	A	G134802672A	COL5A1	NM_000093.5(COL5A1):c.3007-216G>A	noncoding	Benign
9	134804961	G	A	G134804961A	COL5A1	NM_000093.5(COL5A1):c.3115-14G>A	noncoding	Benign/Likely_benign
9	134805370	A	G	A134805370G	COL5A1	NM_000093.5(COL5A1):c.3258+156A>G	noncoding	Benign
9	134806348	G	A	G134806348A	COL5A1	NM_000093.5(COL5A1):c.3366+52G>A	noncoding	Benign
9	134809153	G	A	G134809153A	COL5A1	NM_000093.5(COL5A1):c.3367-30G>A	noncoding	Benign
9	134809338	G	A	G134809338A	COL5A1	NM_000093.5(COL5A1):c.3474+48G>A	noncoding	Benign
9	134810027	A	G	A134810027G	COL5A1	NM_000093.5(COL5A1):c.3475-228A>G	noncoding	Benign
9	134810047	G	T	G134810047T	COL5A1	NM_000093.5(COL5A1):c.3475-208G>T	noncoding	Benign
9	134810076	A	C	A134810076C	COL5A1	NM_000093.5(COL5A1):c.3475-179A>C	noncoding	Benign
9	134810189	C	T	C134810189T	COL5A1	NM_000093.5(COL5A1):c.3475-66C>T	noncoding	Benign
9	134810322	C	T	C134810322T	COL5A1	NM_000093.5(COL5A1):c.3528+14C>T	noncoding	Benign/Likely_benign
9	134810327	G	T	G134810327T	COL5A1	NM_000093.5(COL5A1):c.3528+19G>T	noncoding	Benign/Likely_benign
9	134810363	G	A	G134810363A	COL5A1	NM_000093.5(COL5A1):c.3528+55G>A	noncoding	Benign
9	134810380	T	A	T134810380A	COL5A1	NM_000093.5(COL5A1):c.3528+72T>A	noncoding	Benign
9	134810403	G	A	G134810403A	COL5A1	NM_000093.5(COL5A1):c.3528+95G>A	noncoding	Benign
9	134810463	G	A	G134810463A	COL5A1	NM_000093.5(COL5A1):c.3528+155G>A	noncoding	Benign
9	134810542	C	T	C134810542T	COL5A1	NM_000093.5(COL5A1):c.3528+234C>T	noncoding	Benign
9	134811279	C	G	C134811279G	COL5A1	NM_000093.5(COL5A1):c.3529-60C>G	noncoding	Benign
9	134811522	C	T	C134811522T	COL5A1	NM_000093.5(COL5A1):c.3613C>T:p.Gln1205Ter	coding	Pathogenic
9	134811540	C	T	C134811540T	COL5A1	NM_000093.5(COL5A1):c.3631C>T:p.Gln1211Ter	coding	Pathogenic
9	134811643	C	T	C134811643T	COL5A1	NM_000093.5(COL5A1):c.3690+44C>T	noncoding	Benign
9	134812212	T	A	T134812212A	COL5A1	NM_000093.5(COL5A1):c.3691-237T>A	noncoding	Benign
9	134812236	T	C	T134812236C	COL5A1	NM_000093.5(COL5A1):c.3691-213T>C	noncoding	Benign
9	134812521	C	T	C134812521T	COL5A1	NM_000093.5(COL5A1):c.3744+19C>T	noncoding	Benign/Likely_benign
9	134812629	C	T	C134812629T	COL5A1	NM_000093.5(COL5A1):c.3769C>T:p.Arg1257Ter	coding	Pathogenic
9	134812774	C	G	C134812774G	COL5A1	NM_000093.5(COL5A1):c.3852+62C>G	noncoding	Benign
9	134812936	G	A	G134812936A	COL5A1	NM_000093.5(COL5A1):c.3852+224G>A	noncoding	Benign
9	134816096	T	C	T134816096C	COL5A1	NM_000093.5(COL5A1):c.4122+108T>C	noncoding	Benign
9	134816957	A	G	A134816957G	COL5A1	NM_000093.5(COL5A1):c.4123-69A>G	noncoding	Benign
9	134817129	A	C	A134817129C	COL5A1	NM_000093.5(COL5A1):c.4176+50A>C	noncoding	Benign
9	134817241	C	A	C134817241A	COL5A1	NM_000093.5(COL5A1):c.4176+162C>A	noncoding	Benign
9	134817242	T	A	T134817242A	COL5A1	NM_000093.5(COL5A1):c.4176+163T>A	noncoding	Benign
9	134818043	C	T	C134818043T	COL5A1	NM_000093.5(COL5A1):c.4230+212C>T	noncoding	Benign
9	134818416	G	A	G134818416A	COL5A1	NM_000093.5(COL5A1):c.4231-240G>A	noncoding	Benign
9	134818743	C	T	C134818743T	COL5A1	NM_000093.5(COL5A1):c.4318C>T:p.Arg1440Ter	coding	Pathogenic
9	134819017	C	T	C134819017T	COL5A1	NM_000093.5(COL5A1):c.4410C>T:p.Pro1470=	coding	Benign/Likely_benign
9	134819115	G	A	G134819115A	COL5A1	NM_000093.5(COL5A1):c.4446+62G>A	noncoding	Benign
9	134822345	G	A	G134822345A	COL5A1	NM_000093.5(COL5A1):c.4608+195G>A	noncoding	Benign
9	134822864	A	G	A134822864G	COL5A1	NM_000093.5(COL5A1):c.4609-134A>G	noncoding	Benign
9	134823209	G	A	G134823209A	COL5A1	NM_000093.5(COL5A1):c.4644+176G>A	noncoding	Benign
9	134823463	C	T	C134823463T	COL5A1	NM_000093.5(COL5A1):c.4692C>T:p.Gly1564=	coding	Benign/Likely_benign
9	134824460	C	T	C134824460T	COL5A1	NM_000093.5(COL5A1):c.4699-140C>T	noncoding	Benign
9	134824576	C	T	C134824576T	COL5A1	NM_000093.5(COL5A1):c.4699-24C>T	noncoding	Benign
9	134825653	C	G	C134825653G	COL5A1	NM_000093.5(COL5A1):c.4955-139C>G	noncoding	Benign
9	134829799	C	A	C134829799A	COL5A1	NM_000093.5(COL5A1):c.5068-177C>A	noncoding	Benign
9	134830084	A	G	A134830084G	COL5A1	NM_000093.5(COL5A1):c.5136+40A>G	noncoding	Benign/Likely_benign
9	134830417	G	A	G134830417A	COL5A1	NM_000093.5(COL5A1):c.5136+373G>A	noncoding	Benign
9	134834867	C	T	C134834867T	COL5A1	NM_000093.5(COL5A1):c.5137-104C>T	noncoding	Benign
9	134835052	C	T	C134835052T	COL5A1	NM_000093.5(COL5A1):c.5218C>T:p.Gln1740Ter	coding	Pathogenic
9	134842091	T	G	T134842091G	COL5A1	NM_000093.5(COL5A1):c.5371-66T>G	noncoding	Benign
9	134842140	G	A	G134842140A	COL5A1	NM_000093.5(COL5A1):c.5371-17G>A	noncoding	Benign/Likely_benign
9	134842172	C	T	C134842172T	COL5A1	NM_000093.5(COL5A1):c.5386C>T:p.Gln1796Ter	coding	Pathogenic/Likely_pathogenic
9	134842211	C	T	C134842211T	COL5A1	NM_000093.5(COL5A1):c.5425C>T:p.Gln1809Ter	coding	Pathogenic
9	134842614	C	T	C134842614T	COL5A1	NM_000093.5(COL5A1):c.*311C>T	noncoding	Benign/Likely_benign
9	134918015	G	T	G134918015T	FCN1	Single_allele	noncoding	Benign
9	134918413	C	T	C134918413T	FCN1	Single_allele	noncoding	Benign
9	135501043	C	A	C135501043A	MRPS2	NM_016034.5(MRPS2):c.89C>A:p.Thr30Asn	coding	Benign
9	135501109	C	T	C135501109T	MRPS2	NM_016034.5(MRPS2):c.155C>T:p.Ser52Leu	coding	Benign
9	135503721	G	A	G135503721A	MRPS2	NM_016034.5(MRPS2):c.479G>A:p.Arg160His	coding	Benign
9	135503778	C	T	C135503778T	MRPS2	NM_016034.5(MRPS2):c.536C>T:p.Ala179Val	coding	Benign
9	135503812	G	A	G135503812A	MRPS2	NM_016034.5(MRPS2):c.570G>A:p.Pro190=	coding	Benign
9	135504123	A	G	A135504123G	MRPS2	NM_016034.5(MRPS2):c.881A>G:p.His294Arg	coding	Benign
9	135695180	G	A	G135695180A	SOHLH1	NM_001101677.2(SOHLH1):c.745C>T:p.Gln249Ter	coding	Pathogenic
9	135714314	T	G	T135714314G	KCNT1	NM_020822.3(KCNT1):c.111-263T>G	noncoding	Benign
9	135714617	G	C	G135714617C	KCNT1	NM_020822.3(KCNT1):c.151G>C:p.Gly51Arg	coding	Benign/Likely_benign
9	135736680	C	A	C135736680A	KCNT1	NM_020822.3(KCNT1):c.255-13418C>A	noncoding	Benign
9	135750187	G	A	G135750187A	KCNT1	NM_020822.3(KCNT1):c.334+10G>A	noncoding	Benign/Likely_benign
9	135750330	G	A	G135750330A	KCNT1	NM_020822.3(KCNT1):c.334+153G>A	noncoding	Benign
9	135750408	G	C	G135750408C	KCNT1	NM_020822.3(KCNT1):c.334+231G>C	noncoding	Benign
9	135750418	T	C	T135750418C	KCNT1	NM_020822.3(KCNT1):c.334+241T>C	noncoding	Benign
9	135750926	G	A	G135750926A	KCNT1	NM_020822.3(KCNT1):c.335-16G>A	noncoding	Benign/Likely_benign
9	135755004	A	G	A135755004G	KCNT1	NM_020822.3(KCNT1):c.492-117A>G	noncoding	Benign
9	135755027	A	G	A135755027G	KCNT1	NM_020822.3(KCNT1):c.492-94A>G	noncoding	Benign
9	135755208	T	G	T135755208G	KCNT1	NM_020822.3(KCNT1):c.540+39T>G	noncoding	Benign
9	135756973	A	C	A135756973C	KCNT1	NM_020822.3(KCNT1):c.600+41A>C	noncoding	Benign
9	135756977	T	C	T135756977C	KCNT1	NM_020822.3(KCNT1):c.600+45T>C	noncoding	Benign
9	135756982	A	C	A135756982C	KCNT1	NM_020822.3(KCNT1):c.600+50A>C	noncoding	Benign
9	135756983	C	G	C135756983G	KCNT1	NM_020822.3(KCNT1):c.600+51C>G	noncoding	Benign
9	135757143	C	G	C135757143G	KCNT1	NM_020822.3(KCNT1):c.601-13C>G	noncoding	Benign/Likely_benign
9	135758395	G	A	G135758395A	KCNT1	NM_020822.3(KCNT1):c.760-19G>A	noncoding	Benign/Likely_benign
9	135758495	C	T	C135758495T	KCNT1	NM_020822.3(KCNT1):c.841C>T:p.Leu281Phe	coding	Pathogenic
9	135765061	C	T	C135765061T	KCNT1	NM_020822.3(KCNT1):c.1066C>T:p.Arg356Trp	coding	Pathogenic/Likely_pathogenic
9	135765131	G	A	G135765131A	KCNT1	NM_020822.3(KCNT1):c.1136G>A:p.Ser379Asn	coding	Pathogenic
9	135765188	G	A	G135765188A	KCNT1	NM_020822.3(KCNT1):c.1193G>A:p.Arg398Gln	coding	Pathogenic/Likely_pathogenic
9	135765210	C	T	C135765210T	KCNT1	NM_020822.3(KCNT1):c.1200+15C>T	noncoding	Benign/Likely_benign
9	135765648	C	T	C135765648T	KCNT1	NM_020822.3(KCNT1):c.1225C>T:p.Pro409Ser	coding	Pathogenic/Likely_pathogenic
9	135765732	C	T	C135765732T	KCNT1	NM_020822.3(KCNT1):c.1309C>T:p.Leu437Phe	coding	Pathogenic/Likely_pathogenic
9	135768856	G	A	G135768856A	KCNT1	NM_020822.3(KCNT1):c.1429G>A:p.Ala477Thr	coding	Pathogenic/Likely_pathogenic
9	135769143	A	G	A135769143G	KCNT1	NM_020822.3(KCNT1):c.1510+206A>G	noncoding	Benign
9	135769935	C	G	C135769935G	KCNT1	NM_020822.3(KCNT1):c.1511-12C>G	noncoding	Benign
9	135770073	C	T	C135770073T	KCNT1	NM_020822.3(KCNT1):c.1619+18C>T	noncoding	Benign/Likely_benign
9	135770281	C	T	C135770281T	KCNT1	NM_020822.3(KCNT1):c.1620-17C>T	noncoding	Benign/Likely_benign
9	135770282	C	G	C135770282G	KCNT1	NM_020822.3(KCNT1):c.1620-16C>G	noncoding	Benign/Likely_benign
9	135770841	C	T	C135770841T	KCNT1	NM_020822.3(KCNT1):c.1770-16C>T	noncoding	Benign/Likely_benign
9	135770972	A	G	A135770972G	KCNT1	NM_020822.3(KCNT1):c.1885A>G:p.Lys629Glu	coding	Pathogenic/Likely_pathogenic
9	135772712	C	T	C135772712T	KCNT1	NM_020822.3(KCNT1):c.2009-3C>T	noncoding	Benign
9	135772718	C	T	C135772718T	KCNT1	NM_020822.3(KCNT1):c.2012C>T:p.Thr671Ile	coding	Pathogenic
9	135772824	G	A	G135772824A	KCNT1	NM_020822.3(KCNT1):c.2118G>A:p.Arg706=	coding	Benign/Likely_benign
9	135773127	G	A	G135773127A	KCNT1	NM_020822.3(KCNT1):c.2243+178G>A	noncoding	Benign
9	135775426	C	T	C135775426T	KCNT1	NM_020822.3(KCNT1):c.2349+11C>T	noncoding	Benign
9	135777330	G	A	G135777330A	KCNT1	NM_020822.3(KCNT1):c.2350-8G>A	noncoding	Benign
9	135777442	C	T	C135777442T	KCNT1	NM_020822.3(KCNT1):c.2454C>T:p.Ile818=	coding	Benign/Likely_benign
9	135778779	A	G	A135778779G	KCNT1	NM_020822.3(KCNT1):c.2686A>G:p.Met896Val	coding	Pathogenic/Likely_pathogenic
9	135779423	T	A	T135779423A	KCNT1	NM_020822.3(KCNT1):c.2794T>A:p.Phe932Ile	coding	Pathogenic
9	135779426	C	G	C135779426G	KCNT1	NM_020822.3(KCNT1):c.2797C>G:p.Arg933Gly	coding	Pathogenic
9	135779579	G	T	G135779579T	KCNT1	NM_020822.3(KCNT1):c.2841+109G>T	noncoding	Benign
9	135779779	G	A	G135779779A	KCNT1	NM_020822.3(KCNT1):c.2841+309G>A	noncoding	Benign
9	135784009	C	T	C135784009T	KCNT1	NM_020822.3(KCNT1):c.2842-15C>T	noncoding	Benign/Likely_benign
9	135784492	T	C	T135784492C	KCNT1	NM_020822.3(KCNT1):c.2944-43T>C	noncoding	Benign
9	135784496	T	C	T135784496C	KCNT1	NM_020822.3(KCNT1):c.2944-39T>C	noncoding	Benign
9	135784500	T	C	T135784500C	KCNT1	NM_020822.3(KCNT1):c.2944-35T>C	noncoding	Benign
9	135784504	T	C	T135784504C	KCNT1	NM_020822.3(KCNT1):c.2944-31T>C	noncoding	Benign
9	135784508	T	C	T135784508C	KCNT1	NM_020822.3(KCNT1):c.2944-27T>C	noncoding	Benign
9	135784512	T	C	T135784512C	KCNT1	NM_020822.3(KCNT1):c.2944-23T>C	noncoding	Benign
9	135784516	T	C	T135784516C	KCNT1	NM_020822.3(KCNT1):c.2944-19T>C	noncoding	Benign/Likely_benign
9	135784520	T	C	T135784520C	KCNT1	NM_020822.3(KCNT1):c.2944-15T>C	noncoding	Benign
9	135784524	T	C	T135784524C	KCNT1	NM_020822.3(KCNT1):c.2944-11T>C	noncoding	Benign
9	135784747	T	G	T135784747G	KCNT1	NM_020822.3(KCNT1):c.3028-14T>G	noncoding	Benign/Likely_benign
9	135784778	C	T	C135784778T	KCNT1	NM_020822.3(KCNT1):c.3045C>T:p.Gly1015=	coding	Benign/Likely_benign
9	135784871	C	T	C135784871T	KCNT1	NM_020822.3(KCNT1):c.3138C>T:p.His1046=	coding	Benign/Likely_benign
9	135786402	C	T	C135786402T	KCNT1	NM_020822.3(KCNT1):c.3383C>T:p.Ala1128Val	coding	Benign/Likely_benign
9	135786456	G	A	G135786456A	KCNT1	NM_020822.3(KCNT1):c.3437G>A:p.Arg1146His	coding	Benign/Likely_benign
9	135786533	C	T	C135786533T	KCNT1	NM_020822.3(KCNT1):c.3502+12C>T	noncoding	Benign/Likely_benign
9	135786538	C	T	C135786538T	KCNT1	NM_020822.3(KCNT1):c.3502+17C>T	noncoding	Benign/Likely_benign
9	135786539	G	A	G135786539A	KCNT1	NM_020822.3(KCNT1):c.3502+18G>A	noncoding	Benign/Likely_benign
9	135791779	C	T	C135791779T	KCNT1	NM_020822.3(KCNT1):c.3503-18C>T	noncoding	Benign/Likely_benign
9	135792135	G	A	G135792135A	KCNT1	NM_020822.3(KCNT1):c.3682G>A:p.Glu1228Lys	coding	Benign/Likely_benign
9	135792138	A	G	A135792138G	KCNT1	NM_020822.3(KCNT1):c.3685A>G:p.Thr1229Ala	coding	Benign/Likely_benign
9	135792142	G	A	G135792142A	KCNT1	NM_020822.3(KCNT1):c.3689G>A:p.Arg1230His	coding	Benign/Likely_benign
9	135792147	G	A	G135792147A	KCNT1	NM_020822.3(KCNT1):c.3694G>A:p.Glu1232Lys	coding	Benign/Likely_benign
9	135792220	G	T	G135792220T	KCNT1	NM_020822.3(KCNT1):c.*59G>T	noncoding	Benign
9	136197833	G	A	G136197833A	LHX3	NM_178138.6(LHX3):c.776-90C>T	noncoding	Benign
9	136197871	T	G	T136197871G	LHX3	NM_178138.6(LHX3):c.776-128A>C	noncoding	Benign
9	136197872	A	C	A136197872C	LHX3	NM_178138.6(LHX3):c.776-129T>G	noncoding	Benign
9	136197904	C	T	C136197904T	LHX3	NM_178138.6(LHX3):c.776-161G>A	noncoding	Benign
9	136198836	G	C	G136198836C	LHX3	NM_178138.6(LHX3):c.607-16C>G	noncoding	Benign
9	136198942	G	T	G136198942T	LHX3	NM_178138.6(LHX3):c.572C>A:p.Ser191Ter	coding	Pathogenic
9	136199012	G	A	G136199012A	LHX3	NM_178138.6(LHX3):c.502C>T:p.Gln168Ter	coding	Pathogenic
9	136199614	G	A	G136199614A	LHX3	NM_178138.6(LHX3):c.454+64C>T	noncoding	Benign
9	136199675	G	A	G136199675A	LHX3	NM_178138.6(LHX3):c.454+3C>T	noncoding	Benign/Likely_benign
9	136199951	A	C	A136199951C	LHX3	NM_178138.6(LHX3):c.252-71T>G	noncoding	Benign
9	136200349	C	G	C136200349G	LHX3	NM_178138.6(LHX3):c.251+233G>C	noncoding	Benign
9	136200434	A	G	A136200434G	LHX3	NM_178138.6(LHX3):c.251+148T>C	noncoding	Benign
9	136200552	C	T	C136200552T	LHX3	NM_178138.6(LHX3):c.251+30G>A	noncoding	Benign
9	136200619	G	A	G136200619A	LHX3	NM_178138.6(LHX3):c.214C>T:p.Arg72Ter	coding	Pathogenic
9	136200725	C	T	C136200725T	LHX3	NM_178138.6(LHX3):c.108G>A:p.Gln36=	coding	Benign/Likely_benign
9	136200755	T	C	T136200755C	LHX3	NM_178138.6(LHX3):c.80-2A>G	noncoding	Pathogenic
9	136200833	T	C	T136200833C	LHX3	NM_178138.6(LHX3):c.80-80A>G	noncoding	Benign
9	136203425	C	G	C136203425G	LHX3	NM_178138.6(LHX3):c.79+1509G>C	noncoding	Benign
9	136366784	G	A	G136366784A	CARD9	NM_052813.5(CARD9):c.1357+16C>T	noncoding	Benign
9	136367198	G	A	G136367198A	CARD9	NM_052813.5(CARD9):c.1311+18C>T	noncoding	Benign
9	136369782	G	A	G136369782A	CARD9	NM_052813.5(CARD9):c.1045C>T:p.Gln349Ter	coding	Pathogenic
9	136370280	G	A	G136370280A	CARD9	NM_052813.5(CARD9):c.951+14C>T	noncoding	Benign/Likely_benign
9	136370955	G	A	G136370955A	CARD9	NM_052813.5(CARD9):c.513C>T:p.Gly171=	coding	Benign/Likely_benign
9	136410555	C	T	C136410555T	PMPCA	NM_001039707.2(ENTR1):c.-158G>A	noncoding	Benign
9	136410572	G	A	G136410572A	PMPCA	NM_001039707.2(ENTR1):c.-175C>T	noncoding	Benign
9	136410589	C	T	C136410589T	PMPCA	NM_001039707.2(ENTR1):c.-192G>A	noncoding	Benign
9	136410688	C	A	C136410688A	PMPCA	NM_015160.3(PMPCA):c.20C>A:p.Ala7Glu	coding	Benign
9	136411878	C	T	C136411878T	PMPCA	NM_015160.3(PMPCA):c.72-119C>T	noncoding	Benign
9	136412015	C	T	C136412015T	PMPCA	NM_015160.3(PMPCA):c.90C>T:p.Tyr30=	coding	Benign
9	136412321	C	T	C136412321T	PMPCA	NM_015160.3(PMPCA):c.274+122C>T	noncoding	Benign
9	136414663	G	A	G136414663A	PMPCA	NM_015160.3(PMPCA):c.532+16G>A	noncoding	Benign
9	136416408	G	A	G136416408A	PMPCA	NM_015160.3(PMPCA):c.633+17G>A	noncoding	Benign
9	136416864	G	T	G136416864T	PMPCA	NM_015160.3(PMPCA):c.634-87G>T	noncoding	Benign
9	136417019	C	T	C136417019T	PMPCA	NM_015160.3(PMPCA):c.702C>T:p.Asn234=	coding	Benign
9	136418520	G	T	G136418520T	PMPCA	NM_015160.3(PMPCA):c.991-35G>T	noncoding	Benign
9	136418544	C	T	C136418544T	PMPCA	NM_015160.3(PMPCA):c.991-11C>T	noncoding	Benign
9	136418951	G	A	G136418951A	PMPCA	NM_015160.3(PMPCA):c.1200+33G>A	noncoding	Benign
9	136421977	G	A	G136421977A	PMPCA	NM_015160.3(PMPCA):c.1408+1G>A	coding	Pathogenic
9	136422007	C	T	C136422007T	PMPCA	NM_015160.3(PMPCA):c.1408+31C>T	noncoding	Benign
9	136422149	C	T	C136422149T	PMPCA	NM_015160.3(PMPCA):c.1408+173C>T	noncoding	Benign
9	136423371	C	T	C136423371T	PMPCA	NM_015160.3(PMPCA):c.*107C>T	noncoding	Benign
9	136423417	T	C	T136423417C	PMPCA	NM_015160.3(PMPCA):c.*153T>C	noncoding	Benign
9	136429577	C	T	C136429577T	INPP5E	NM_019892.6(INPP5E):c.*98G>A	noncoding	Benign/Likely_benign
9	136429748	C	T	C136429748T	INPP5E	NM_019892.6(INPP5E):c.1862G>A:p.Arg621Gln	coding	Pathogenic/Likely_pathogenic
9	136429749	G	A	G136429749A	INPP5E	NM_019892.6(INPP5E):c.1861C>T:p.Arg621Trp	coding	Pathogenic/Likely_pathogenic
9	136429875	G	A	G136429875A	INPP5E	NM_019892.6(INPP5E):c.1803-68C>T	noncoding	Benign
9	136430121	T	C	T136430121C	INPP5E	NM_019892.6(INPP5E):c.1802+156A>G	noncoding	Benign
9	136430284	G	A	G136430284A	INPP5E	NM_019892.6(INPP5E):c.1795C>T:p.Arg599Ter	coding	Pathogenic
9	136430353	A	C	A136430353C	INPP5E	NM_019892.6(INPP5E):c.1726T>G:p.Cys576Gly	coding	Pathogenic
9	136430739	G	A	G136430739A	INPP5E	NM_019892.6(INPP5E):c.1665+263C>T	noncoding	Benign
9	136430902	G	C	G136430902C	INPP5E	NM_019892.6(INPP5E):c.1665+100C>G	noncoding	Benign
9	136431038	G	C	G136431038C	INPP5E	NM_019892.6(INPP5E):c.1629C>G:p.Tyr543Ter	coding	Pathogenic
9	136431102	C	G	C136431102G	INPP5E	NM_019892.6(INPP5E):c.1565G>C:p.Gly522Ala	coding	Pathogenic
9	136432329	C	T	C136432329T	INPP5E	NM_019892.6(INPP5E):c.1387+150G>A	noncoding	Benign
9	136432364	C	T	C136432364T	INPP5E	NM_019892.6(INPP5E):c.1387+115G>A	noncoding	Benign
9	136432465	G	A	G136432465A	INPP5E	NM_019892.6(INPP5E):c.1387+14C>T	noncoding	Benign
9	136432563	G	A	G136432563A	INPP5E	NM_019892.6(INPP5E):c.1303C>T:p.Arg435Trp	coding	Pathogenic
9	136432691	C	T	C136432691T	INPP5E	NM_019892.6(INPP5E):c.1280-105G>A	noncoding	Benign
9	136432825	G	A	G136432825A	INPP5E	NM_019892.6(INPP5E):c.1279+131C>T	noncoding	Benign
9	136433146	C	T	C136433146T	INPP5E	NM_019892.6(INPP5E):c.1159+9G>A	noncoding	Benign/Likely_benign
9	136433406	G	A	G136433406A	INPP5E	NM_019892.6(INPP5E):c.1035-127C>T	noncoding	Benign
9	136433407	C	T	C136433407T	INPP5E	NM_019892.6(INPP5E):c.1035-128G>A	noncoding	Benign
9	136433417	A	T	A136433417T	INPP5E	NM_019892.6(INPP5E):c.1035-138T>A	noncoding	Benign
9	136433771	C	A	C136433771A	INPP5E	NM_019892.6(INPP5E):c.1034+266G>T	noncoding	Benign
9	136434127	G	A	G136434127A	INPP5E	NM_019892.6(INPP5E):c.944C>T:p.Pro315Leu	coding	Pathogenic/Likely_pathogenic
9	136434474	C	T	C136434474T	INPP5E	NM_019892.6(INPP5E):c.936+266G>A	noncoding	Benign
9	136434802	G	C	G136434802C	INPP5E	NM_019892.6(INPP5E):c.874C>G:p.Arg292Gly	coding	Pathogenic
9	136435004	C	G	C136435004G	INPP5E	NM_019892.6(INPP5E):c.813-141G>C	noncoding	Benign
9	136439237	C	T	C136439237T	INPP5E	NM_019892.6(INPP5E):c.183G>A:p.Glu61=	coding	Benign
9	136439848	G	A	G136439848A	INPP5E	Single_allele	noncoding	Benign
9	136474501	G	A	G136474501A	SEC16A	NM_014866.2(SEC16A):c.3115C>T:p.Arg1039Cys	coding	Benign
9	136494732	A	G	A136494732G	NOTCH1	NM_017617.5(NOTCH1):c.*1339T>C	noncoding	Benign
9	136495935	T	C	T136495935C	NOTCH1	NM_017617.5(NOTCH1):c.*136A>G	noncoding	Benign
9	136495945	C	T	C136495945T	NOTCH1	NM_017617.5(NOTCH1):c.*126G>A	noncoding	Benign
9	136496550	G	A	G136496550A	NOTCH1	NM_017617.5(NOTCH1):c.7189C>T:p.Leu2397=	coding	Benign/Likely_benign
9	136496692	C	T	C136496692T	NOTCH1	NM_017617.5(NOTCH1):c.7047G>A:p.Pro2349=	coding	Benign/Likely_benign
9	136496950	C	G	C136496950G	NOTCH1	NM_017617.5(NOTCH1):c.6789G>C:p.Arg2263=	coding	Benign/Likely_benign
9	136497142	G	C	G136497142C	NOTCH1	NM_017617.5(NOTCH1):c.6597C>G:p.Pro2199=	coding	Benign/Likely_benign
9	136497157	G	A	G136497157A	NOTCH1	NM_017617.5(NOTCH1):c.6582C>T:p.Ser2194=	coding	Benign/Likely_benign
9	136497445	G	A	G136497445A	NOTCH1	NM_017617.5(NOTCH1):c.6294C>T:p.Arg2098=	coding	Benign/Likely_benign
9	136497517	G	A	G136497517A	NOTCH1	NM_017617.5(NOTCH1):c.6222C>T:p.Tyr2074=	coding	Benign/Likely_benign
9	136498855	A	G	A136498855G	NOTCH1	NM_017617.5(NOTCH1):c.6180+44T>C	noncoding	Benign
9	136498929	G	A	G136498929A	NOTCH1	NM_017617.5(NOTCH1):c.6150C>T:p.Asn2050=	coding	Benign/Likely_benign
9	136499000	C	T	C136499000T	NOTCH1	NM_017617.5(NOTCH1):c.6083-4G>A	noncoding	Benign/Likely_benign
9	136499006	A	C	A136499006C	NOTCH1	NM_017617.5(NOTCH1):c.6083-10T>G	noncoding	Benign/Likely_benign
9	136499140	G	A	G136499140A	NOTCH1	NM_017617.5(NOTCH1):c.6054C>T:p.His2018=	coding	Benign/Likely_benign
9	136499270	G	A	G136499270A	NOTCH1	NM_017617.5(NOTCH1):c.5935-11C>T	noncoding	Benign
9	136500681	G	A	G136500681A	NOTCH1	NM_017617.5(NOTCH1):c.5805C>T:p.Ala1935=	coding	Benign/Likely_benign
9	136500768	C	T	C136500768T	NOTCH1	NM_017617.5(NOTCH1):c.5718G>A:p.Ala1906=	coding	Benign/Likely_benign
9	136501449	A	G	A136501449G	NOTCH1	NM_017617.5(NOTCH1):c.5638+299T>C	noncoding	Benign
9	136501450	G	A	G136501450A	NOTCH1	NM_017617.5(NOTCH1):c.5638+298C>T	noncoding	Benign
9	136501661	T	A	T136501661A	NOTCH1	NM_017617.5(NOTCH1):c.5638+87A>T	noncoding	Benign
9	136501982	C	G	C136501982G	NOTCH1	NM_017617.5(NOTCH1):c.5472+19G>C	noncoding	Benign/Likely_benign
9	136502070	T	C	T136502070C	NOTCH1	NM_017617.5(NOTCH1):c.5403A>G:p.Ser1801=	coding	Benign/Likely_benign
9	136502106	G	A	G136502106A	NOTCH1	NM_017617.5(NOTCH1):c.5385-18C>T	noncoding	Benign/Likely_benign
9	136502238	C	T	C136502238T	NOTCH1	NM_017617.5(NOTCH1):c.5384+34G>A	noncoding	Benign
9	136502493	G	A	G136502493A	NOTCH1	NM_017617.5(NOTCH1):c.5168-5C>T	noncoding	Benign/Likely_benign
9	136502531	A	G	A136502531G	NOTCH1	NM_017617.5(NOTCH1):c.5168-43T>C	noncoding	Benign
9	136503105	C	G	C136503105G	NOTCH1	NM_017617.5(NOTCH1):c.5167+77G>C	noncoding	Benign
9	136504618	G	A	G136504618A	NOTCH1	NM_017617.5(NOTCH1):c.5018+55C>T	noncoding	Benign
9	136504720	G	A	G136504720A	NOTCH1	NM_017617.5(NOTCH1):c.4971C>T:p.Ser1657=	coding	Benign/Likely_benign
9	136504770	G	A	G136504770A	NOTCH1	NM_017617.5(NOTCH1):c.4921C>T:p.Pro1641Ser	coding	Benign
9	136504882	G	A	G136504882A	NOTCH1	NM_017617.5(NOTCH1):c.4809C>T:p.Asn1603=	coding	Benign/Likely_benign
9	136505023	C	T	C136505023T	NOTCH1	NM_017617.5(NOTCH1):c.4668G>A:p.Trp1556Ter	coding	Pathogenic
9	136505189	G	A	G136505189A	NOTCH1	NM_017617.5(NOTCH1):c.4587-85C>T	noncoding	Benign
9	136505413	G	A	G136505413A	NOTCH1	NM_017617.5(NOTCH1):c.4483C>T:p.Gln1495Ter	coding	Pathogenic
9	136505500	G	A	G136505500A	NOTCH1	NM_017617.5(NOTCH1):c.4396C>T:p.Gln1466Ter	coding	Pathogenic
9	136505533	G	A	G136505533A	NOTCH1	NM_017617.5(NOTCH1):c.4363C>T:p.Gln1455Ter	coding	Pathogenic
9	136505570	C	T	C136505570T	NOTCH1	NM_017617.5(NOTCH1):c.4326G>A:p.Pro1442=	coding	Benign/Likely_benign
9	136505711	G	A	G136505711A	NOTCH1	NM_017617.5(NOTCH1):c.4185C>T:p.Asn1395=	coding	Benign/Likely_benign
9	136505819	G	A	G136505819A	NOTCH1	NM_017617.5(NOTCH1):c.4077C>T:p.Asn1359=	coding	Benign/Likely_benign
9	136506626	C	T	C136506626T	NOTCH1	NM_017617.5(NOTCH1):c.3915G>A:p.Glu1305=	coding	Benign/Likely_benign
9	136506704	C	T	C136506704T	NOTCH1	NM_017617.5(NOTCH1):c.3901+12G>A	noncoding	Benign
9	136507113	A	G	A136507113G	NOTCH1	NM_017617.5(NOTCH1):c.3644-140T>C	noncoding	Benign
9	136507194	T	C	T136507194C	NOTCH1	NM_017617.5(NOTCH1):c.3643+111A>G	noncoding	Benign
9	136507249	T	A	T136507249A	NOTCH1	NM_017617.5(NOTCH1):c.3643+56A>T	noncoding	Benign
9	136507351	G	A	G136507351A	NOTCH1	NM_017617.5(NOTCH1):c.3597C>T:p.Leu1199=	coding	Benign/Likely_benign
9	136507448	G	A	G136507448A	NOTCH1	NM_017617.5(NOTCH1):c.3511-11C>T	noncoding	Benign/Likely_benign
9	136508002	G	A	G136508002A	NOTCH1	NM_017617.5(NOTCH1):c.3463C>T:p.Gln1155Ter	coding	Pathogenic
9	136508150	T	G	T136508150G	NOTCH1	NM_017617.5(NOTCH1):c.3326-11A>C	noncoding	Benign/Likely_benign
9	136508206	C	T	C136508206T	NOTCH1	NM_017617.5(NOTCH1):c.3325+26G>A	noncoding	Benign
9	136508287	G	A	G136508287A	NOTCH1	NM_017617.5(NOTCH1):c.3270C>T:p.Thr1090=	coding	Benign/Likely_benign
9	136508772	C	A	C136508772A	NOTCH1	NM_017617.5(NOTCH1):c.3171+98G>T	noncoding	Benign
9	136508828	C	T	C136508828T	NOTCH1	NM_017617.5(NOTCH1):c.3171+42G>A	noncoding	Benign
9	136508862	G	A	G136508862A	NOTCH1	NM_017617.5(NOTCH1):c.3171+8C>T	noncoding	Benign/Likely_benign
9	136509080	G	A	G136509080A	NOTCH1	NM_017617.5(NOTCH1):c.2970-9C>T	noncoding	Benign/Likely_benign
9	136509091	C	T	C136509091T	NOTCH1	NM_017617.5(NOTCH1):c.2970-20G>A	noncoding	Benign/Likely_benign
9	136509318	G	A	G136509318A	NOTCH1	NM_017617.5(NOTCH1):c.2970-247C>T	noncoding	Benign
9	136509719	C	T	C136509719T	NOTCH1	NM_017617.5(NOTCH1):c.2969+14G>A	noncoding	Benign/Likely_benign
9	136509786	G	A	G136509786A	NOTCH1	NM_017617.5(NOTCH1):c.2916C>T:p.Pro972=	coding	Benign/Likely_benign
9	136510012	T	C	T136510012C	NOTCH1	NM_017617.5(NOTCH1):c.2741-51A>G	noncoding	Benign
9	136510443	C	T	C136510443T	NOTCH1	NM_017617.5(NOTCH1):c.2740+210G>A	noncoding	Benign
9	136510536	C	T	C136510536T	NOTCH1	NM_017617.5(NOTCH1):c.2740+117G>A	noncoding	Benign
9	136510753	G	A	G136510753A	NOTCH1	NM_017617.5(NOTCH1):c.2640C>T:p.His880=	coding	Benign/Likely_benign
9	136511023	C	T	C136511023T	NOTCH1	NM_017617.5(NOTCH1):c.2587+129G>A	noncoding	Benign
9	136511078	C	T	C136511078T	NOTCH1	NM_017617.5(NOTCH1):c.2587+74G>A	noncoding	Benign
9	136511133	G	C	G136511133C	NOTCH1	NM_017617.5(NOTCH1):c.2587+19C>G	noncoding	Benign
9	136511219	G	A	G136511219A	NOTCH1	NM_017617.5(NOTCH1):c.2520C>T:p.Asn840=	coding	Benign/Likely_benign
9	136512972	T	C	T136512972C	NOTCH1	NM_017617.5(NOTCH1):c.2467+49A>G	noncoding	Benign
9	136513100	C	T	C136513100T	NOTCH1	NM_017617.5(NOTCH1):c.2388G>A:p.Ala796=	coding	Benign/Likely_benign
9	136513133	A	G	A136513133G	NOTCH1	NM_017617.5(NOTCH1):c.2355T>C:p.Gly785=	coding	Benign/Likely_benign
9	136513378	C	T	C136513378T	NOTCH1	NM_017617.5(NOTCH1):c.2353+14G>A	noncoding	Benign/Likely_benign
9	136513449	C	T	C136513449T	NOTCH1	NM_017617.5(NOTCH1):c.2296G>A:p.Gly766Ser	coding	Pathogenic
9	136513473	C	A	C136513473A	NOTCH1	NM_017617.5(NOTCH1):c.2272G>T:p.Glu758Ter	coding	Pathogenic
9	136514494	C	T	C136514494T	NOTCH1	NM_017617.5(NOTCH1):c.2207+16G>A	noncoding	Benign/Likely_benign
9	136514542	G	A	G136514542A	NOTCH1	NM_017617.5(NOTCH1):c.2175C>T:p.Cys725=	coding	Benign/Likely_benign
9	136514562	C	A	C136514562A	NOTCH1	NM_017617.5(NOTCH1):c.2155G>T:p.Glu719Ter	coding	Pathogenic
9	136514590	G	A	G136514590A	NOTCH1	NM_017617.5(NOTCH1):c.2127C>T:p.His709=	coding	Benign/Likely_benign
9	136514680	G	A	G136514680A	NOTCH1	NM_017617.5(NOTCH1):c.2037C>T:p.Ile679=	coding	Benign/Likely_benign
9	136515120	G	A	G136515120A	NOTCH1	NM_017617.5(NOTCH1):c.2014+170C>T	noncoding	Benign
9	136515196	G	A	G136515196A	NOTCH1	NM_017617.5(NOTCH1):c.2014+94C>T	noncoding	Benign
9	136515327	G	T	G136515327T	NOTCH1	NM_017617.5(NOTCH1):c.1977C>A:p.Ile659=	coding	Benign/Likely_benign
9	136515351	G	A	G136515351A	NOTCH1	NM_017617.5(NOTCH1):c.1953C>T:p.Asp651=	coding	Benign/Likely_benign
9	136515375	A	G	A136515375G	NOTCH1	NM_017617.5(NOTCH1):c.1929T>C:p.Asp643=	coding	Benign/Likely_benign
9	136515410	T	C	T136515410C	NOTCH1	NM_017617.5(NOTCH1):c.1904-10A>G	noncoding	Benign
9	136515571	G	A	G136515571A	NOTCH1	NM_017617.5(NOTCH1):c.1815C>T:p.Asn605=	coding	Benign/Likely_benign
9	136515685	G	T	G136515685T	NOTCH1	NM_017617.5(NOTCH1):c.1701C>A:p.Ile567=	coding	Benign/Likely_benign
9	136515697	G	A	G136515697A	NOTCH1	NM_017617.5(NOTCH1):c.1689C>T:p.Cys563=	coding	Benign/Likely_benign
9	136515726	G	A	G136515726A	NOTCH1	NM_017617.5(NOTCH1):c.1670-10C>T	noncoding	Benign/Likely_benign
9	136515966	G	A	G136515966A	NOTCH1	NM_017617.5(NOTCH1):c.1669+15C>T	noncoding	Benign
9	136517167	G	A	G136517167A	NOTCH1	NM_017617.5(NOTCH1):c.1555+105C>T	noncoding	Benign
9	136517285	G	T	G136517285T	NOTCH1	NM_017617.5(NOTCH1):c.1542C>A:p.Cys514Ter	coding	Pathogenic
9	136517316	C	T	C136517316T	NOTCH1	NM_017617.5(NOTCH1):c.1511G>A:p.Arg504His	coding	Benign/Likely_benign
9	136517741	G	A	G136517741A	NOTCH1	NM_017617.5(NOTCH1):c.1441+11C>T	noncoding	Benign
9	136517753	G	A	G136517753A	NOTCH1	NM_017617.5(NOTCH1):c.1440C>T:p.Pro480=	coding	Benign/Likely_benign
9	136517817	T	C	T136517817C	NOTCH1	NM_017617.5(NOTCH1):c.1376A>G:p.Asn459Ser	coding	Benign
9	136518306	G	A	G136518306A	NOTCH1	NM_017617.5(NOTCH1):c.1100-14C>T	noncoding	Benign/Likely_benign
9	136518715	G	A	G136518715A	NOTCH1	NM_017617.5(NOTCH1):c.975C>T:p.Asn325=	coding	Benign/Likely_benign
9	136519425	G	A	G136519425A	NOTCH1	NM_017617.5(NOTCH1):c.865+18C>T	noncoding	Benign/Likely_benign
9	136519579	G	A	G136519579A	NOTCH1	NM_017617.5(NOTCH1):c.743-14C>T	coding	Benign/Likely_benign
9	136523001	G	A	G136523001A	NOTCH1	NM_017617.5(NOTCH1):c.591C>T:p.Asn197=	coding	Benign/Likely_benign
9	136523019	G	A	G136523019A	NOTCH1	NM_017617.5(NOTCH1):c.573C>T:p.His191=	coding	Benign/Likely_benign
9	136544007	G	A	G136544007A	NOTCH1	NM_017617.5(NOTCH1):c.140+17C>T	noncoding	Benign
9	136544041	A	G	A136544041G	NOTCH1	NM_017617.5(NOTCH1):c.123T>C:p.Asn41=	coding	Benign/Likely_benign
9	136544050	T	C	T136544050C	NOTCH1	NM_017617.5(NOTCH1):c.114A>G:p.Glu38=	coding	Benign/Likely_benign
9	136545707	C	T	C136545707T	NOTCH1	NM_017617.5(NOTCH1):c.61+19G>A	noncoding	Benign
9	136674235	C	T	C136674235T	AGPAT2	NM_006412.4(AGPAT2):c.662-308G>A	noncoding	Benign
9	136674614	A	G	A136674614G	AGPAT2	NM_006412.4(AGPAT2):c.661+121T>C	noncoding	Benign
9	136676659	C	T	C136676659T	AGPAT2	NM_006412.4(AGPAT2):c.514G>A:p.Glu172Lys	coding	Pathogenic/Likely_pathogenic
9	136677426	T	C	T136677426C	AGPAT2	NM_006412.4(AGPAT2):c.313A>G:p.Met105Val	coding	Pathogenic
9	136677616	C	G	C136677616G	AGPAT2	NM_006412.4(AGPAT2):c.183-60G>C	noncoding	Benign
9	136687077	G	C	G136687077C	AGPAT2	NM_006412.4(AGPAT2):c.182+99C>G	noncoding	Benign
9	136687320	A	T	A136687320T	AGPAT2	NM_006412.4(AGPAT2):c.38T>A:p.Leu13Ter	coding	Pathogenic
9	136687531	C	A	C136687531A	AGPAT2	Single_allele	noncoding	Benign
9	136687542	A	C	A136687542C	AGPAT2	Single_allele	noncoding	Benign
9	137007762	A	G	A137007762G	ABCA2	NM_001606.5(ABCA2):c.*167T>C	noncoding	Benign
9	137008260	A	G	A137008260G	ABCA2	NM_001606.5(ABCA2):c.7275+156T>C	noncoding	Benign
9	137008334	G	C	G137008334C	ABCA2	NM_001606.5(ABCA2):c.7275+82C>G	noncoding	Benign
9	137008345	C	G	C137008345G	ABCA2	NM_001606.5(ABCA2):c.7275+71G>C	noncoding	Benign
9	137009585	A	G	A137009585G	ABCA2	NM_001606.5(ABCA2):c.6690T>C:p.Leu2230=	coding	Benign
9	137011907	G	A	G137011907A	ABCA2	NM_001606.5(ABCA2):c.5472C>T:p.His1824=	coding	Benign
9	137012061	T	C	T137012061C	ABCA2	NM_001606.5(ABCA2):c.5360+41A>G	noncoding	Benign
9	137013390	T	C	T137013390C	ABCA2	NM_001606.5(ABCA2):c.4550+71A>G	noncoding	Benign
9	137013687	A	G	A137013687G	ABCA2	NM_001606.5(ABCA2):c.4448-124T>C	noncoding	Benign
9	137013813	T	C	T137013813C	ABCA2	NM_001606.5(ABCA2):c.4447+19A>G	noncoding	Benign
9	137014195	G	A	G137014195A	ABCA2	NM_001606.5(ABCA2):c.4213C>T:p.Gln1405Ter	coding	Pathogenic
9	137014754	C	T	C137014754T	ABCA2	NM_001606.5(ABCA2):c.3939G>A:p.Thr1313_Thr1314=	coding	Benign
9	137016196	T	C	T137016196C	ABCA2	NM_001606.5(ABCA2):c.3105-22A>G	noncoding	Benign
9	137017726	G	A	G137017726A	ABCA2	NM_001606.5(ABCA2):c.2212-34C>T	noncoding	Benign
9	137018032	A	G	A137018032G	ABCA2	NM_001606.5(ABCA2):c.2037T>C:p.Asp679=	coding	Benign
9	137028813	A	G	A137028813G	ABCA2	NM_212533.3(ABCA2):c.60T>C:p.Ala20_His21=	coding	Benign
9	137088055	A	C	A137088055C	MAN1B1	NM_016219.5(MAN1B1):c.220-20A>C	noncoding	Benign
9	137088097	T	A	T137088097A	MAN1B1	NM_016219.5(MAN1B1):c.242T>A:p.Leu81Ter	coding	Pathogenic
9	137088416	C	T	C137088416T	MAN1B1	NM_016219.5(MAN1B1):c.328+233C>T	noncoding	Benign
9	137089175	T	C	T137089175C	MAN1B1	NM_016219.5(MAN1B1):c.465+170T>C	noncoding	Benign
9	137096078	T	C	T137096078C	MAN1B1	NM_016219.5(MAN1B1):c.466-159T>C	noncoding	Benign
9	137096094	G	A	G137096094A	MAN1B1	NM_016219.5(MAN1B1):c.466-143G>A	noncoding	Benign
9	137096255	C	T	C137096255T	MAN1B1	NM_016219.5(MAN1B1):c.484C>T:p.Gln162Ter	coding	Pathogenic
9	137096454	T	C	T137096454C	MAN1B1	NM_016219.5(MAN1B1):c.620+63T>C	noncoding	Benign
9	137098027	G	C	G137098027C	MAN1B1	NM_016219.5(MAN1B1):c.730+90G>C	noncoding	Benign
9	137099650	G	A	G137099650A	MAN1B1	NM_016219.5(MAN1B1):c.731-46G>A	noncoding	Benign
9	137101169	T	A	T137101169A	MAN1B1	NM_016219.5(MAN1B1):c.1065+16T>A	noncoding	Benign/Likely_benign
9	137101607	G	A	G137101607A	MAN1B1	NM_016219.5(MAN1B1):c.1189G>A:p.Glu397Lys	coding	Pathogenic/Likely_pathogenic
9	137101743	G	C	G137101743C	MAN1B1	NM_016219.5(MAN1B1):c.1254+71G>C	noncoding	Benign
9	137105895	C	T	C137105895T	MAN1B1	NM_016219.5(MAN1B1):c.1255-230C>T	noncoding	Benign
9	137106314	C	T	C137106314T	MAN1B1	NM_016219.5(MAN1B1):c.1444C>T:p.Gln482Ter	coding	Pathogenic
9	137106334	C	T	C137106334T	MAN1B1	NM_016219.5(MAN1B1):c.1445+19C>T	noncoding	Benign
9	137106420	G	A	G137106420A	MAN1B1	NM_016219.5(MAN1B1):c.1445+105G>A	noncoding	Benign
9	137106640	G	A	G137106640A	MAN1B1	NM_016219.5(MAN1B1):c.1446-49G>A	noncoding	Benign
9	137106823	C	T	C137106823T	MAN1B1	NM_016219.5(MAN1B1):c.1566+14C>T	noncoding	Benign/Likely_benign
9	137106877	T	C	T137106877C	MAN1B1	NM_016219.5(MAN1B1):c.1566+68T>C	noncoding	Benign
9	137107124	C	T	C137107124T	MAN1B1	NM_016219.5(MAN1B1):c.1567-126C>T	noncoding	Benign
9	137107514	C	T	C137107514T	MAN1B1	NM_016219.5(MAN1B1):c.1765-17C>T	noncoding	Benign
9	137107684	G	A	G137107684A	MAN1B1	NM_016219.5(MAN1B1):c.1896+22G>A	noncoding	Benign
9	137107727	G	A	G137107727A	MAN1B1	NM_016219.5(MAN1B1):c.1896+65G>A	noncoding	Benign
9	137107735	C	T	C137107735T	MAN1B1	NM_016219.5(MAN1B1):c.1896+73C>T	noncoding	Benign
9	137107768	A	G	A137107768G	MAN1B1	NM_016219.5(MAN1B1):c.1896+106A>G	noncoding	Benign
9	137107809	A	G	A137107809G	MAN1B1	NM_016219.5(MAN1B1):c.1896+147A>G	noncoding	Benign
9	137107891	C	A	C137107891A	MAN1B1	NM_016219.5(MAN1B1):c.1896+229C>A	noncoding	Benign
9	137108115	C	A	C137108115A	MAN1B1	NM_016219.5(MAN1B1):c.1897-273C>A	noncoding	Benign
9	137108302	C	T	C137108302T	MAN1B1	NM_016219.5(MAN1B1):c.1897-86C>T	noncoding	Benign
9	137139508	A	C	A137139508C	GRIN1	NM_007327.4(GRIN1):c.22A>C:p.Thr8Pro	coding	Benign/Likely_benign
9	137139625	A	T	A137139625T	GRIN1	NM_007327.4(GRIN1):c.139A>T:p.Asn47Tyr	coding	Benign
9	137139762	C	T	C137139762T	GRIN1	NM_007327.4(GRIN1):c.258+18C>T	noncoding	Benign/Likely_benign
9	137142018	C	T	C137142018T	GRIN1	NM_007327.4(GRIN1):c.264C>T:p.Tyr88=	coding	Benign
9	137145704	G	A	G137145704A	GRIN1	NM_007327.4(GRIN1):c.394-22G>A	noncoding	Benign
9	137145707	G	A	G137145707A	GRIN1	NM_007327.4(GRIN1):c.394-19G>A	noncoding	Benign/Likely_benign
9	137145722	G	A	G137145722A	GRIN1	NM_007327.4(GRIN1):c.394-4G>A	noncoding	Benign/Likely_benign
9	137145725	G	C	G137145725C	GRIN1	NM_007327.4(GRIN1):c.394-1G>C	noncoding	Pathogenic
9	137145914	C	T	C137145914T	GRIN1	NM_007327.4(GRIN1):c.570+12C>T	noncoding	Benign/Likely_benign
9	137145915	G	A	G137145915A	GRIN1	NM_007327.4(GRIN1):c.570+13G>A	noncoding	Benign/Likely_benign
9	137156345	G	A	G137156345A	GRIN1	NM_007327.4(GRIN1):c.672-324G>A	noncoding	Benign
9	137156697	G	A	G137156697A	GRIN1	NM_007327.4(GRIN1):c.700G>A:p.Ala234Thr	coding	Benign
9	137156933	G	A	G137156933A	GRIN1	NM_007327.4(GRIN1):c.864G>A:p.Val288=	coding	Benign/Likely_benign
9	137157188	C	T	C137157188T	GRIN1	NM_007327.4(GRIN1):c.968+151C>T	noncoding	Benign
9	137158376	T	C	T137158376C	GRIN1	NM_007327.4(GRIN1):c.969-3T>C	noncoding	Benign
9	137158509	T	C	T137158509C	GRIN1	NM_007327.4(GRIN1):c.1099T>C:p.Tyr367His	coding	Benign
9	137158523	C	T	C137158523T	GRIN1	NM_007327.4(GRIN1):c.1113C>T:p.His371=	coding	Benign
9	137158638	G	A	G137158638A	GRIN1	NM_007327.4(GRIN1):c.1131G>A:p.Arg377=	coding	Benign
9	137158675	C	G	C137158675G	GRIN1	NM_007327.4(GRIN1):c.1168C>G:p.Arg390Gly	coding	Benign
9	137161049	C	T	C137161049T	GRIN1	NM_007327.4(GRIN1):c.1198-7C>T	noncoding	Benign/Likely_benign
9	137161272	C	A	C137161272A	GRIN1	NM_007327.4(GRIN1):c.1340-17C>A	noncoding	Benign/Likely_benign
9	137161916	C	A	C137161916A	GRIN1	NM_007327.4(GRIN1):c.1468-8C>A	noncoding	Benign
9	137161972	C	T	C137161972T	GRIN1	NM_007327.4(GRIN1):c.1516C>T:p.Leu506Phe	coding	Benign
9	137162096	G	C	G137162096C	GRIN1	NM_007327.4(GRIN1):c.1632+8G>C	noncoding	Benign
9	137162102	G	A	G137162102A	GRIN1	NM_007327.4(GRIN1):c.1632+14G>A	noncoding	Benign/Likely_benign
9	137162197	C	T	C137162197T	GRIN1	NM_007327.4(GRIN1):c.1658C>T:p.Ser553Leu	coding	Pathogenic
9	137162204	G	T	G137162204T	GRIN1	NM_007327.4(GRIN1):c.1665G>T:p.Met555Ile	coding	Pathogenic
9	137162207	G	T	G137162207T	GRIN1	NM_007327.4(GRIN1):c.1668G>T:p.Gln556His	coding	Pathogenic
9	137162484	G	T	G137162484T	GRIN1	NM_007327.4(GRIN1):c.1832G>T:p.Trp611Leu	coding	Pathogenic
9	137162504	G	A	G137162504A	GRIN1	NM_007327.4(GRIN1):c.1852G>A:p.Gly618Ser	coding	Pathogenic
9	137162505	G	T	G137162505T	GRIN1	NM_007327.4(GRIN1):c.1853G>T:p.Gly618Val	coding	Pathogenic
9	137162533	C	T	C137162533T	GRIN1	NM_007327.4(GRIN1):c.1864+17C>T	noncoding	Benign/Likely_benign
9	137162578	C	T	C137162578T	GRIN1	NM_007327.4(GRIN1):c.1865-13C>T	noncoding	Benign/Likely_benign
9	137162639	G	C	G137162639C	GRIN1	NM_007327.4(GRIN1):c.1913G>C:p.Gly638Ala	coding	Pathogenic/Likely_pathogenic
9	137162647	A	G	A137162647G	GRIN1	NM_007327.4(GRIN1):c.1921A>G:p.Met641Val	coding	Pathogenic
9	137162647	A	T	A137162647T	GRIN1	NM_007327.4(GRIN1):c.1921A>T:p.Met641Leu	coding	Pathogenic
9	137162675	A	T	A137162675T	GRIN1	NM_007327.4(GRIN1):c.1949A>T:p.Asn650Ile	coding	Pathogenic
9	137163151	C	G	C137163151G	GRIN1	NM_007327.4(GRIN1):c.2172-18C>G	noncoding	Benign
9	137163559	G	A	G137163559A	GRIN1	NM_007327.4(GRIN1):c.2334G>A:p.Lys778=	coding	Benign
9	137165210	C	G	C137165210G	GRIN1	NM_007327.4(GRIN1):c.2614C>G:p.Pro872Ala	coding	Benign
9	137192249	C	G	C137192249G	TPRN	NM_001128228.3(TPRN):c.2073+10G>C	noncoding	Benign
9	137192391	C	T	C137192391T	TPRN	NM_001128228.3(TPRN):c.1967-26G>A	noncoding	Benign
9	137192669	T	C	T137192669C	TPRN	NM_001128228.3(TPRN):c.1748A>G:p.Lys583Arg	coding	Benign/Likely_benign
9	137198836	G	A	G137198836A	TPRN	NM_001128228.3(TPRN):c.1725+151C>T	noncoding	Benign
9	137200103	G	A	G137200103A	TPRN	NM_001128228.3(TPRN):c.609C>T:p.Asn203=	coding	Benign
9	137200550	G	T	G137200550T	TPRN	NM_001128228.3(TPRN):c.162C>A:p.Gly54=	coding	Benign/Likely_benign
9	137200984	C	A	C137200984A	TPRN	Single_allele	noncoding	Benign
9	137232131	C	T	C137232131T	SLC34A3	NM_001177316.2(SLC34A3):c.145C>T:p.Gln49Ter	coding	Pathogenic
9	137232346	A	G	A137232346G	SLC34A3	NM_001177316.2(SLC34A3):c.175+185A>G	noncoding	Benign
9	137232472	C	G	C137232472G	SLC34A3	NM_001177316.2(SLC34A3):c.176-103C>G	noncoding	Benign
9	137232723	C	T	C137232723T	SLC34A3	NM_001177316.2(SLC34A3):c.304+20C>T	noncoding	Benign
9	137234047	G	A	G137234047A	SLC34A3	NM_001177316.2(SLC34A3):c.926-62G>A	noncoding	Benign
9	137234125	G	C	G137234125C	SLC34A3	NM_001177316.2(SLC34A3):c.942G>C:p.Ala314=	coding	Benign/Likely_benign
9	137234284	C	T	C137234284T	SLC34A3	NM_001177316.2(SLC34A3):c.1093+8C>T	noncoding	Benign
9	137234295	G	A	G137234295A	SLC34A3	NM_001177316.2(SLC34A3):c.1093+19G>A	noncoding	Benign
9	137234490	C	T	C137234490T	SLC34A3	NM_001177316.2(SLC34A3):c.1168C>T:p.Gln390Ter	coding	Pathogenic
9	137234549	G	A	G137234549A	SLC34A3	NM_001177316.2(SLC34A3):c.1210+17G>A	noncoding	Benign
9	137234613	G	T	G137234613T	SLC34A3	NM_001177316.2(SLC34A3):c.1217G>T:p.Gly406Val	coding	Pathogenic
9	137234638	C	A	C137234638A	SLC34A3	NM_001177316.2(SLC34A3):c.1242C>A:p.Tyr414Ter	coding	Pathogenic
9	137234733	T	A	T137234733A	SLC34A3	NM_001177316.2(SLC34A3):c.1335+2T>A	noncoding	Pathogenic/Likely_pathogenic
9	137234998	C	G	C137234998G	SLC34A3	NM_001177316.2(SLC34A3):c.1335+267C>G	noncoding	Benign
9	137235809	T	C	T137235809C	SLC34A3	NM_001177316.2(SLC34A3):c.1336-143T>C	noncoding	Benign
9	137236239	G	A	G137236239A	SLC34A3	NM_001177316.2(SLC34A3):c.1623G>A:p.Trp541Ter	coding	Pathogenic/Likely_pathogenic
9	137236395	C	G	C137236395G	SLC34A3	NM_001177316.2(SLC34A3):c.1779C>G:p.Ile593Met	coding	Benign
9	137236411	T	C	T137236411C	SLC34A3	NM_001177316.2(SLC34A3):c.1795T>C:p.Leu599=	coding	Benign
9	137241299	G	T	G137241299T	TUBB4B	NM_006088.6(TUBB4B):c.-62G>T	noncoding	Benign
9	137241332	C	A	C137241332A	TUBB4B	NM_006088.6(TUBB4B):c.-29C>A	noncoding	Benign
9	137241372	C	T	C137241372T	TUBB4B	NM_006088.6(TUBB4B):c.12C>T:p.Ile4=	coding	Benign
9	137241427	C	T	C137241427T	TUBB4B	NM_006088.6(TUBB4B):c.57+10C>T	noncoding	Benign
9	137241786	C	T	C137241786T	TUBB4B	NM_006088.6(TUBB4B):c.123C>T:p.Asp41=	coding	Benign
9	137241842	C	T	C137241842T	TUBB4B	NM_006088.6(TUBB4B):c.166+13C>T	noncoding	Benign
9	137241987	C	T	C137241987T	TUBB4B	NM_006088.6(TUBB4B):c.243C>T:p.Phe81=	coding	Benign
9	137242377	C	G	C137242377G	TUBB4B	NM_006088.6(TUBB4B):c.278-119C>G	noncoding	Benign
9	137242552	C	T	C137242552T	TUBB4B	NM_006088.6(TUBB4B):c.334C>T:p.Leu112=	coding	Benign
9	137243262	T	C	T137243262C	TUBB4B	NM_006088.6(TUBB4B):c.1044T>C:p.Asn348=	coding	Benign
9	137243390	G	A	G137243390A	TUBB4B	NM_006088.6(TUBB4B):c.1172G>A:p.Arg391His	coding	Pathogenic/Likely_pathogenic
9	137243418	C	T	C137243418T	TUBB4B	NM_006088.6(TUBB4B):c.1200C>T:p.Gly400=	coding	Benign
9	137449138	G	A	G137449138A	NSMF	NM_001130969.3(NSMF):c.*256C>T	noncoding	Benign
9	137449876	G	A	G137449876A	NSMF	NM_001130969.3(NSMF):c.1419+47C>T	noncoding	Benign
9	137449941	C	T	C137449941T	NSMF	NM_001130969.3(NSMF):c.1401G>A:p.Gly467=	coding	Benign/Likely_benign
9	137452830	A	G	A137452830G	NSMF	NM_001130969.3(NSMF):c.1048-11T>C	noncoding	Benign
9	137453196	G	A	G137453196A	NSMF	NM_001130969.3(NSMF):c.923-16C>T	noncoding	Benign
9	137453262	G	A	G137453262A	NSMF	NM_001130969.3(NSMF):c.923-82C>T	noncoding	Benign
9	137453515	G	T	G137453515T	NSMF	NM_001130969.3(NSMF):c.922+216C>A	noncoding	Benign
9	137453949	T	C	T137453949C	NSMF	NM_001130969.3(NSMF):c.833-129A>G	noncoding	Benign
9	137454709	C	T	C137454709T	NSMF	NM_001130969.3(NSMF):c.780-266G>A	noncoding	Benign
9	137455422	C	G	C137455422G	NSMF	NM_001130969.3(NSMF):c.711-115G>C	noncoding	Benign
9	137459331	A	G	A137459331G	NSMF	NM_001130969.3(NSMF):c.-229T>C	noncoding	Benign
9	137618895	A	G	A137618895G	EHMT1	NR_122035.1(ARRDC1-AS1):n.1T>C	noncoding	Benign
9	137619067	C	T	C137619067T	EHMT1	NM_024757.5(EHMT1):c.21+18C>T	noncoding	Benign
9	137710750	A	G	A137710750G	EHMT1	NM_024757.5(EHMT1):c.22-217A>G	noncoding	Benign
9	137710882	T	C	T137710882C	EHMT1	NM_024757.5(EHMT1):c.22-85T>C	noncoding	Benign
9	137710903	A	C	A137710903C	EHMT1	NM_024757.5(EHMT1):c.22-64A>C	noncoding	Benign
9	137710930	C	G	C137710930G	EHMT1	NM_024757.5(EHMT1):c.22-37C>G	noncoding	Benign
9	137711036	G	A	G137711036A	EHMT1	NM_024757.5(EHMT1):c.85+6G>A	noncoding	Benign
9	137711065	G	A	G137711065A	EHMT1	NM_024757.5(EHMT1):c.85+35G>A	noncoding	Benign
9	137711224	G	A	G137711224A	EHMT1	NM_024757.5(EHMT1):c.85+194G>A	noncoding	Benign
9	137716599	C	G	C137716599G	EHMT1	NM_024757.5(EHMT1):c.86-27C>G	noncoding	Benign
9	137716631	C	G	C137716631G	EHMT1	NM_024757.5(EHMT1):c.91C>G:p.Pro31Ala	coding	Benign
9	137716681	C	G	C137716681G	EHMT1	NM_024757.5(EHMT1):c.141C>G:p.His47Gln	coding	Benign
9	137716689	C	G	C137716689G	EHMT1	NM_024757.5(EHMT1):c.149C>G:p.Ala50Gly	coding	Benign
9	137716716	A	G	A137716716G	EHMT1	NM_024757.5(EHMT1):c.176A>G:p.Glu59Gly	coding	Benign
9	137716728	C	G	C137716728G	EHMT1	NM_024757.5(EHMT1):c.188C>G:p.Ala63Gly	coding	Benign
9	137716739	G	C	G137716739C	EHMT1	NM_024757.5(EHMT1):c.199G>C:p.Ala67Pro	coding	Benign
9	137716755	A	G	A137716755G	EHMT1	NM_024757.5(EHMT1):c.215A>G:p.His72Arg	coding	Benign
9	137716757	A	G	A137716757G	EHMT1	NM_024757.5(EHMT1):c.217A>G:p.Thr73Ala	coding	Benign
9	137716769	G	A	G137716769A	EHMT1	NM_024757.5(EHMT1):c.229G>A:p.Ala77Thr	coding	Benign
9	137716806	C	G	C137716806G	EHMT1	NM_024757.5(EHMT1):c.266C>G:p.Thr89Ser	coding	Benign
9	137716864	C	T	C137716864T	EHMT1	NM_024757.5(EHMT1):c.324C>T:p.His108=	coding	Benign/Likely_benign
9	137716876	C	G	C137716876G	EHMT1	NM_024757.5(EHMT1):c.336C>G:p.Asp112Glu	coding	Benign
9	137716877	G	A	G137716877A	EHMT1	NM_024757.5(EHMT1):c.337G>A:p.Asp113Asn	coding	Benign
9	137716930	G	T	G137716930T	EHMT1	NM_024757.5(EHMT1):c.390G>T:p.Pro130=	coding	Benign/Likely_benign
9	137716931	G	C	G137716931C	EHMT1	NM_024757.5(EHMT1):c.391G>C:p.Ala131Pro	coding	Benign/Likely_benign
9	137717045	C	G	C137717045G	EHMT1	NM_024757.5(EHMT1):c.505C>G:p.Pro169Ala	coding	Benign
9	137717060	G	T	G137717060T	EHMT1	NM_024757.5(EHMT1):c.520G>T:p.Ala174Ser	coding	Benign
9	137717126	G	A	G137717126A	EHMT1	NM_024757.5(EHMT1):c.586G>A:p.Ala196Thr	coding	Benign
9	137717171	G	A	G137717171A	EHMT1	NM_024757.5(EHMT1):c.631G>A:p.Val211Ile	coding	Benign/Likely_benign
9	137717173	C	T	C137717173T	EHMT1	NM_024757.5(EHMT1):c.633C>T:p.Val211=	coding	Benign
9	137717183	G	C	G137717183C	EHMT1	NM_024757.5(EHMT1):c.642+1G>C	coding	Pathogenic
9	137717204	C	G	C137717204G	EHMT1	NM_024757.5(EHMT1):c.642+22C>G	noncoding	Benign
9	137728442	C	T	C137728442T	EHMT1	NM_024757.5(EHMT1):c.736C>T:p.Arg246Ter	coding	Pathogenic/Likely_pathogenic
9	137728443	G	A	G137728443A	EHMT1	NM_024757.5(EHMT1):c.737G>A:p.Arg246Gln	coding	Benign/Likely_benign
9	137728490	C	T	C137728490T	EHMT1	NM_024757.5(EHMT1):c.784C>T:p.Gln262Ter	coding	Pathogenic
9	137728499	T	G	T137728499G	EHMT1	NM_024757.5(EHMT1):c.793T>G:p.Cys265Gly	coding	Benign
9	137728503	A	G	A137728503G	EHMT1	NM_024757.5(EHMT1):c.797A>G:p.Tyr266Cys	coding	Benign/Likely_benign
9	137728555	T	C	T137728555C	EHMT1	NM_024757.5(EHMT1):c.823+26T>C	noncoding	Benign
9	137728575	C	T	C137728575T	EHMT1	NM_024757.5(EHMT1):c.823+46C>T	noncoding	Benign
9	137743077	A	G	A137743077G	EHMT1	NM_024757.5(EHMT1):c.824-294A>G	noncoding	Benign
9	137743100	G	A	G137743100A	EHMT1	NM_024757.5(EHMT1):c.824-271G>A	noncoding	Benign
9	137743438	C	T	C137743438T	EHMT1	NM_024757.5(EHMT1):c.891C>T:p.Ser297=	coding	Benign/Likely_benign
9	137743479	C	T	C137743479T	EHMT1	NM_024757.5(EHMT1):c.932C>T:p.Thr311Met	coding	Benign/Likely_benign
9	137743593	C	T	C137743593T	EHMT1	NM_024757.5(EHMT1):c.981+65C>T	noncoding	Benign
9	137743918	G	A	G137743918A	EHMT1	NM_024757.5(EHMT1):c.998G>A:p.Gly333Asp	coding	Benign
9	137743956	A	T	A137743956T	EHMT1	NM_024757.5(EHMT1):c.1036A>T:p.Met346Leu	coding	Benign
9	137744025	G	A	G137744025A	EHMT1	NM_024757.5(EHMT1):c.1105G>A:p.Ala369Thr	coding	Benign
9	137744045	C	G	C137744045G	EHMT1	NM_024757.5(EHMT1):c.1125C>G:p.Ser375Arg	coding	Benign
9	137744155	A	T	A137744155T	EHMT1	NM_024757.5(EHMT1):c.1170+65A>T	noncoding	Benign
9	137752195	C	T	C137752195T	EHMT1	NM_024757.5(EHMT1):c.1171-136C>T	noncoding	Benign
9	137752215	C	T	C137752215T	EHMT1	NM_024757.5(EHMT1):c.1171-116C>T	noncoding	Benign
9	137752364	G	A	G137752364A	EHMT1	NM_024757.5(EHMT1):c.1204G>A:p.Val402Met	coding	Benign
9	137752626	G	A	G137752626A	EHMT1	NM_024757.5(EHMT1):c.1248+218G>A	noncoding	Benign
9	137754160	T	C	T137754160C	EHMT1	NM_024757.5(EHMT1):c.1249-11T>C	noncoding	Benign/Likely_benign
9	137754193	A	G	A137754193G	EHMT1	NM_024757.5(EHMT1):c.1271A>G:p.Lys424Arg	coding	Benign
9	137754205	A	G	A137754205G	EHMT1	NM_024757.5(EHMT1):c.1283A>G:p.Lys428Arg	coding	Benign
9	137754208	G	A	G137754208A	EHMT1	NM_024757.5(EHMT1):c.1286G>A:p.Arg429Lys	coding	Benign
9	137757604	G	A	G137757604A	EHMT1	NM_024757.5(EHMT1):c.1370-276G>A	noncoding	Benign
9	137757780	T	G	T137757780G	EHMT1	NM_024757.5(EHMT1):c.1370-100T>G	noncoding	Benign
9	137757845	G	C	G137757845C	EHMT1	NM_024757.5(EHMT1):c.1370-35G>C	noncoding	Benign
9	137757904	C	T	C137757904T	EHMT1	NM_024757.5(EHMT1):c.1394C>T:p.Ala465Val	coding	Benign/Likely_benign
9	137757918	C	T	C137757918T	EHMT1	NM_024757.5(EHMT1):c.1408C>T:p.Gln470Ter	coding	Pathogenic
9	137757978	C	G	C137757978G	EHMT1	NM_024757.5(EHMT1):c.1468C>G:p.Arg490Gly	coding	Benign
9	137757978	C	T	C137757978T	EHMT1	NM_024757.5(EHMT1):c.1468C>T:p.Arg490Ter	coding	Pathogenic/Likely_pathogenic
9	137757979	G	A	G137757979A	EHMT1	NM_024757.5(EHMT1):c.1469G>A:p.Arg490Gln	coding	Benign
9	137758006	C	T	C137758006T	EHMT1	NM_024757.5(EHMT1):c.1496C>T:p.Ala499Val	coding	Benign
9	137758085	G	T	G137758085T	EHMT1	NM_024757.5(EHMT1):c.1501+74G>T	noncoding	Benign
9	137758119	C	G	C137758119G	EHMT1	NM_024757.5(EHMT1):c.1501+108C>G	noncoding	Benign
9	137758159	T	C	T137758159C	EHMT1	NM_024757.5(EHMT1):c.1501+148T>C	noncoding	Benign
9	137758315	C	T	C137758315T	EHMT1	NM_024757.5(EHMT1):c.1501+304C>T	noncoding	Benign
9	137762528	A	G	A137762528G	EHMT1	NM_024757.5(EHMT1):c.1502-147A>G	noncoding	Benign
9	137762673	A	G	A137762673G	EHMT1	NM_024757.5(EHMT1):c.1502-2A>G	noncoding	Pathogenic
9	137762686	G	A	G137762686A	EHMT1	NM_024757.5(EHMT1):c.1513G>A:p.Gly505Ser	coding	Benign
9	137774828	C	T	C137774828T	EHMT1	NM_024757.5(EHMT1):c.1648-281C>T	noncoding	Benign
9	137775417	C	A	C137775417A	EHMT1	NM_024757.5(EHMT1):c.1791+165C>A	noncoding	Benign
9	137776576	C	T	C137776576T	EHMT1	NM_024757.5(EHMT1):c.1792-42C>T	noncoding	Benign
9	137776579	A	G	A137776579G	EHMT1	NM_024757.5(EHMT1):c.1792-39A>G	noncoding	Benign
9	137777146	C	T	C137777146T	EHMT1	NM_024757.5(EHMT1):c.2018+302C>T	noncoding	Benign
9	137777147	G	A	G137777147A	EHMT1	NM_024757.5(EHMT1):c.2018+303G>A	noncoding	Benign
9	137777808	T	A	T137777808A	EHMT1	NM_024757.5(EHMT1):c.2019-74T>A	noncoding	Benign
9	137777842	C	T	C137777842T	EHMT1	NM_024757.5(EHMT1):c.2019-40C>T	noncoding	Benign
9	137777864	C	T	C137777864T	EHMT1	NM_024757.5(EHMT1):c.2019-18C>T	noncoding	Benign
9	137777937	G	T	G137777937T	EHMT1	NM_024757.5(EHMT1):c.2074G>T:p.Val692Leu	coding	Benign
9	137777960	G	A	G137777960A	EHMT1	NM_024757.5(EHMT1):c.2097G>A:p.Thr699=	coding	Benign
9	137777973	C	T	C137777973T	EHMT1	NM_024757.5(EHMT1):c.2110C>T:p.Leu704Phe	coding	Benign/Likely_benign
9	137779383	G	A	G137779383A	EHMT1	NM_024757.5(EHMT1):c.2193-252G>A	noncoding	Benign
9	137782295	C	T	C137782295T	EHMT1	NM_024757.5(EHMT1):c.2280C>T:p.Asp760=	coding	Benign/Likely_benign
9	137782355	G	A	G137782355A	EHMT1	NM_024757.5(EHMT1):c.2340G>A:p.Ala780=	coding	Benign/Likely_benign
9	137782400	G	A	G137782400A	EHMT1	NM_024757.5(EHMT1):c.2382+3G>A	noncoding	Benign
9	137790798	G	A	G137790798A	EHMT1	NM_024757.5(EHMT1):c.2383-50G>A	noncoding	Benign
9	137790892	G	A	G137790892A	EHMT1	NM_024757.5(EHMT1):c.2427G>A:p.Pro809=	coding	Benign/Likely_benign
9	137790994	C	T	C137790994T	EHMT1	NM_024757.5(EHMT1):c.2505+24C>T	noncoding	Benign
9	137791014	C	T	C137791014T	EHMT1	NM_024757.5(EHMT1):c.2505+44C>T	noncoding	Benign
9	137791155	T	C	T137791155C	EHMT1	NM_024757.5(EHMT1):c.2505+185T>C	noncoding	Benign
9	137791247	C	T	C137791247T	EHMT1	NM_024757.5(EHMT1):c.2505+277C>T	noncoding	Benign
9	137798584	G	C	G137798584C	EHMT1	NM_024757.5(EHMT1):c.2506-229G>C	noncoding	Benign
9	137798729	G	A	G137798729A	EHMT1	NM_024757.5(EHMT1):c.2506-84G>A	noncoding	Benign
9	137798770	T	C	T137798770C	EHMT1	NM_024757.5(EHMT1):c.2506-43T>C	noncoding	Benign
9	137798864	G	A	G137798864A	EHMT1	NM_024757.5(EHMT1):c.2557G>A:p.Glu853Lys	coding	Benign
9	137798899	G	A	G137798899A	EHMT1	NM_024757.5(EHMT1):c.2592G>A:p.Met864Ile	coding	Benign
9	137799146	A	G	A137799146G	EHMT1	NM_024757.5(EHMT1):c.2607+232A>G	noncoding	Benign
9	137800854	G	A	G137800854A	EHMT1	NM_024757.5(EHMT1):c.2608-26G>A	noncoding	Benign
9	137800888	A	G	A137800888G	EHMT1	NM_024757.5(EHMT1):c.2616A>G:p.Gly872=	coding	Benign/Likely_benign
9	137800933	C	T	C137800933T	EHMT1	NM_024757.5(EHMT1):c.2661C>T:p.Asp887=	coding	Benign/Likely_benign
9	137801007	G	A	G137801007A	EHMT1	NM_024757.5(EHMT1):c.2712+23G>A	noncoding	Benign
9	137801014	G	A	G137801014A	EHMT1	NM_024757.5(EHMT1):c.2712+30G>A	noncoding	Benign
9	137801021	G	A	G137801021A	EHMT1	NM_024757.5(EHMT1):c.2712+37G>A	noncoding	Benign
9	137801124	A	G	A137801124G	EHMT1	NM_024757.5(EHMT1):c.2712+140A>G	noncoding	Benign
9	137811270	T	C	T137811270C	EHMT1	NM_024757.5(EHMT1):c.2713-191T>C	noncoding	Benign
9	137811287	C	T	C137811287T	EHMT1	NM_024757.5(EHMT1):c.2713-174C>T	noncoding	Benign
9	137811344	G	A	G137811344A	EHMT1	NM_024757.5(EHMT1):c.2713-117G>A	noncoding	Benign
9	137811353	T	C	T137811353C	EHMT1	NM_024757.5(EHMT1):c.2713-108T>C	noncoding	Benign
9	137811675	G	A	G137811675A	EHMT1	NM_024757.5(EHMT1):c.2867+60G>A	noncoding	Benign
9	137811767	C	T	C137811767T	EHMT1	NM_024757.5(EHMT1):c.2867+152C>T	noncoding	Benign
9	137811856	T	C	T137811856C	EHMT1	NM_024757.5(EHMT1):c.2867+241T>C	noncoding	Benign
9	137812699	T	A	T137812699A	EHMT1	NM_024757.5(EHMT1):c.2868-307T>A	noncoding	Benign
9	137812846	C	T	C137812846T	EHMT1	NM_024757.5(EHMT1):c.2868-160C>T	noncoding	Benign
9	137812929	A	T	A137812929T	EHMT1	NM_024757.5(EHMT1):c.2868-77A>T	noncoding	Benign
9	137812951	A	G	A137812951G	EHMT1	NM_024757.5(EHMT1):c.2868-55A>G	noncoding	Benign
9	137812955	C	T	C137812955T	EHMT1	NM_024757.5(EHMT1):c.2868-51C>T	noncoding	Benign
9	137813067	C	T	C137813067T	EHMT1	NM_024757.5(EHMT1):c.2929C>T:p.Gln977Ter	coding	Pathogenic
9	137813179	C	G	C137813179G	EHMT1	NM_024757.5(EHMT1):c.3035+6C>G	noncoding	Benign
9	137813220	G	A	G137813220A	EHMT1	NM_024757.5(EHMT1):c.3035+47G>A	noncoding	Benign
9	137813443	C	T	C137813443T	EHMT1	NM_024757.5(EHMT1):c.3093C>T:p.Ser1031=	coding	Benign
9	137813457	G	T	G137813457T	EHMT1	NM_024757.5(EHMT1):c.3107G>T:p.Ser1036Ile	coding	Benign
9	137813636	A	G	A137813636G	EHMT1	NM_024757.5(EHMT1):c.3180+106A>G	noncoding	Benign
9	137814316	T	G	T137814316G	EHMT1	NM_024757.5(EHMT1):c.3181-115T>G	noncoding	Benign
9	137814382	T	C	T137814382C	EHMT1	NM_024757.5(EHMT1):c.3181-49T>C	noncoding	Benign
9	137814410	C	T	C137814410T	EHMT1	NM_024757.5(EHMT1):c.3181-21C>T	noncoding	Benign
9	137814416	C	T	C137814416T	EHMT1	NM_024757.5(EHMT1):c.3181-15C>T	noncoding	Benign
9	137814443	A	G	A137814443G	EHMT1	NM_024757.5(EHMT1):c.3193A>G:p.Ile1065Val	coding	Benign
9	137814449	G	A	G137814449A	EHMT1	NM_024757.5(EHMT1):c.3199G>A:p.Asp1067Asn	coding	Benign
9	137814651	G	A	G137814651A	EHMT1	NM_024757.5(EHMT1):c.3258+143G>A	noncoding	Benign
9	137814688	G	A	G137814688A	EHMT1	NM_024757.5(EHMT1):c.3258+180G>A	noncoding	Benign
9	137815998	G	T	G137815998T	EHMT1	NM_024757.5(EHMT1):c.3310G>T:p.Glu1104Ter	coding	Pathogenic
9	137816043	G	A	G137816043A	EHMT1	NM_024757.5(EHMT1):c.3355G>A:p.Val1119Ile	coding	Benign/Likely_benign
9	137816049	C	T	C137816049T	EHMT1	NM_024757.5(EHMT1):c.3361C>T:p.Gln1121Ter	coding	Pathogenic
9	137816084	G	A	G137816084A	EHMT1	NM_024757.5(EHMT1):c.3374+22G>A	noncoding	Benign
9	137816151	C	T	C137816151T	EHMT1	NM_024757.5(EHMT1):c.3374+89C>T	noncoding	Benign
9	137817441	C	T	C137817441T	EHMT1	NM_024757.5(EHMT1):c.3377C>T:p.Ala1126Val	coding	Benign/Likely_benign
9	137817457	C	A	C137817457A	EHMT1	NM_024757.5(EHMT1):c.3393C>A:p.Tyr1131Ter	coding	Pathogenic
9	137817464	C	T	C137817464T	EHMT1	NM_024757.5(EHMT1):c.3400C>T:p.Arg1134Trp	coding	Benign
9	137817872	T	C	T137817872C	EHMT1	NM_024757.5(EHMT1):c.3462-188T>C	noncoding	Benign
9	137817935	A	G	A137817935G	EHMT1	NM_024757.5(EHMT1):c.3462-125A>G	noncoding	Benign
9	137818020	G	A	G137818020A	EHMT1	NM_024757.5(EHMT1):c.3462-40G>A	noncoding	Benign
9	137818080	C	G	C137818080G	EHMT1	NM_024757.5(EHMT1):c.3482C>G:p.Ser1161Ter	coding	Pathogenic
9	137834528	C	T	C137834528T	EHMT1	NM_024757.5(EHMT1):c.3716+4C>T	noncoding	Benign/Likely_benign
9	137834549	C	A	C137834549A	EHMT1	NM_024757.5(EHMT1):c.3716+25C>A	noncoding	Benign
9	137834760	G	T	G137834760T	EHMT1	NM_024757.5(EHMT1):c.3717-13G>T	noncoding	Benign
9	137834767	C	G	C137834767G	EHMT1	NM_024757.5(EHMT1):c.3717-6C>G	noncoding	Benign
9	137834930	G	A	G137834930A	EHMT1	NM_024757.5(EHMT1):c.3874G>A:p.Ala1292Thr	coding	Benign
9	137834948	C	G	C137834948G	EHMT1	NM_024757.5(EHMT1):c.3892C>G:p.Leu1298Val	coding	Benign
9	137834957	G	A	G137834957A	EHMT1	NM_024757.5(EHMT1):c.*4G>A	noncoding	Benign
9	137877547	C	T	C137877547T	CACNA1B	Single_allele	noncoding	Benign
9	137877578	C	A	C137877578A	CACNA1B	Single_allele	noncoding	Benign
9	137877642	C	A	C137877642A	CACNA1B	Single_allele	noncoding	Benign
9	137877982	G	A	G137877982A	CACNA1B	NM_000718.4(CACNA1B):c.49G>A:p.Gly17Ser	coding	Benign
9	137877990	G	A	G137877990A	CACNA1B	NM_000718.4(CACNA1B):c.57G>A:p.Glu19=	coding	Benign
9	137878025	G	T	G137878025T	CACNA1B	NM_000718.4(CACNA1B):c.92G>T:p.Gly31Val	coding	Benign/Likely_benign
9	137878341	G	C	G137878341C	CACNA1B	NM_000718.4(CACNA1B):c.284+124G>C	noncoding	Benign
9	137878839	C	G	C137878839G	CACNA1B	NM_000718.4(CACNA1B):c.285-215C>G	noncoding	Benign
9	137878910	T	G	T137878910G	CACNA1B	NM_000718.4(CACNA1B):c.285-144T>G	noncoding	Benign
9	137879312	C	G	C137879312G	CACNA1B	NM_000718.4(CACNA1B):c.390+153C>G	noncoding	Benign
9	137882526	G	A	G137882526A	CACNA1B	NM_000718.4(CACNA1B):c.391-218G>A	noncoding	Benign
9	137882653	A	C	A137882653C	CACNA1B	NM_000718.4(CACNA1B):c.391-91A>C	noncoding	Benign
9	137882702	G	C	G137882702C	CACNA1B	NM_000718.4(CACNA1B):c.391-42G>C	noncoding	Benign
9	137882710	G	T	G137882710T	CACNA1B	NM_000718.4(CACNA1B):c.391-34G>T	noncoding	Benign
9	137882847	G	T	G137882847T	CACNA1B	NM_000718.4(CACNA1B):c.494G>T:p.Gly165Val	coding	Benign
9	137883092	T	C	T137883092C	CACNA1B	NM_000718.4(CACNA1B):c.530+209T>C	noncoding	Benign
9	137883095	C	T	C137883095T	CACNA1B	NM_000718.4(CACNA1B):c.530+212C>T	noncoding	Benign
9	137952254	C	T	C137952254T	CACNA1B	NM_000718.4(CACNA1B):c.967-20C>T	noncoding	Benign/Likely_benign
9	137952263	C	G	C137952263G	CACNA1B	NM_000718.4(CACNA1B):c.967-11C>G	noncoding	Benign/Likely_benign
9	137952504	G	A	G137952504A	CACNA1B	NM_000718.4(CACNA1B):c.1070+127G>A	noncoding	Benign
9	137956893	G	A	G137956893A	CACNA1B	NM_000718.4(CACNA1B):c.1243+66G>A	noncoding	Benign
9	137971519	C	T	C137971519T	CACNA1B	NM_000718.4(CACNA1B):c.1470C>T:p.Cys490=	coding	Benign/Likely_benign
9	137971537	A	T	A137971537T	CACNA1B	NM_000718.4(CACNA1B):c.1488A>T:p.Thr496=	coding	Benign
9	137971555	G	A	G137971555A	CACNA1B	NM_000718.4(CACNA1B):c.1506G>A:p.Val502=	coding	Benign
9	137971737	T	C	T137971737C	CACNA1B	NM_000718.4(CACNA1B):c.1543+145T>C	noncoding	Benign
9	137976036	A	T	A137976036T	CACNA1B	NM_000718.4(CACNA1B):c.1656+17A>T	noncoding	Benign/Likely_benign
9	137976226	A	C	A137976226C	CACNA1B	NM_000718.4(CACNA1B):c.1656+207A>C	noncoding	Benign
9	137984114	A	G	A137984114G	CACNA1B	NM_000718.4(CACNA1B):c.1657-24A>G	noncoding	Benign
9	137984164	G	A	G137984164A	CACNA1B	NM_000718.4(CACNA1B):c.1683G>A:p.Val561=	coding	Benign
9	137984451	C	T	C137984451T	CACNA1B	NM_000718.4(CACNA1B):c.1769+201C>T	noncoding	Benign
9	137986143	C	T	C137986143T	CACNA1B	NM_000718.4(CACNA1B):c.1770-270C>T	noncoding	Benign
9	137986862	A	C	A137986862C	CACNA1B	NM_000718.4(CACNA1B):c.1974+8A>C	noncoding	Benign
9	138006499	G	A	G138006499A	CACNA1B	NM_000718.4(CACNA1B):c.1975-268G>A	noncoding	Benign
9	138006694	A	G	A138006694G	CACNA1B	NM_000718.4(CACNA1B):c.1975-73A>G	noncoding	Benign
9	138006847	G	A	G138006847A	CACNA1B	NM_000718.4(CACNA1B):c.2055G>A:p.Ser685=	coding	Benign
9	138010188	G	A	G138010188A	CACNA1B	NM_000718.4(CACNA1B):c.2160+111G>A	noncoding	Benign
9	138022809	G	T	G138022809T	CACNA1B	NM_000718.4(CACNA1B):c.2268-202G>T	noncoding	Benign
9	138022939	G	C	G138022939C	CACNA1B	NM_000718.4(CACNA1B):c.2268-72G>C	noncoding	Benign
9	138023327	G	T	G138023327T	CACNA1B	NM_000718.4(CACNA1B):c.2584G>T:p.Ala862Ser	coding	Benign
9	138023848	G	C	G138023848C	CACNA1B	NM_000718.4(CACNA1B):c.3068+37G>C	noncoding	Benign
9	138024910	G	T	G138024910T	CACNA1B	NM_000718.4(CACNA1B):c.3069-45G>T	noncoding	Benign
9	138025141	G	A	G138025141A	CACNA1B	NM_000718.4(CACNA1B):c.3255G>A:p.Thr1085=	coding	Benign
9	138043623	C	T	C138043623T	CACNA1B	NM_000718.4(CACNA1B):c.3287-151C>T	coding	Benign
9	138043731	A	G	A138043731G	CACNA1B	NM_000718.4(CACNA1B):c.3287-43A>G	coding	Benign
9	138046627	A	G	A138046627G	CACNA1B	NM_000718.4(CACNA1B):c.3414-277A>G	noncoding	Benign
9	138046890	G	A	G138046890A	CACNA1B	NM_000718.4(CACNA1B):c.3414-14G>A	noncoding	Benign
9	138047133	G	C	G138047133C	CACNA1B	NM_000718.4(CACNA1B):c.3543+100G>C	noncoding	Benign
9	138047354	A	T	A138047354T	CACNA1B	NM_000718.4(CACNA1B):c.3544-45A>T	noncoding	Benign
9	138047605	A	G	A138047605G	CACNA1B	NM_000718.4(CACNA1B):c.3603+147A>G	noncoding	Benign
9	138047655	T	A	T138047655A	CACNA1B	NM_000718.4(CACNA1B):c.3603+197T>A	noncoding	Benign
9	138047661	C	T	C138047661T	CACNA1B	NM_000718.4(CACNA1B):c.3603+203C>T	noncoding	Benign
9	138049190	G	T	G138049190T	CACNA1B	NM_000718.4(CACNA1B):c.3604-19G>T	noncoding	Benign
9	138053657	C	A	C138053657A	CACNA1B	NM_000718.4(CACNA1B):c.3808-189C>A	noncoding	Benign
9	138053745	G	A	G138053745A	CACNA1B	NM_000718.4(CACNA1B):c.3808-101G>A	noncoding	Benign
9	138057834	G	A	G138057834A	CACNA1B	NM_000718.4(CACNA1B):c.4071G>A:p.Thr1357=	coding	Benign
9	138058238	G	A	G138058238A	CACNA1B	NM_000718.4(CACNA1B):c.4296G>A:p.Leu1432=	coding	Benign
9	138058464	T	C	T138058464C	CACNA1B	NM_000718.4(CACNA1B):c.4309-105T>C	noncoding	Benign
9	138058673	G	A	G138058673A	CACNA1B	NM_000718.4(CACNA1B):c.4413G>A:p.Pro1471=	coding	Benign
9	138058750	G	A	G138058750A	CACNA1B	NM_000718.4(CACNA1B):c.4473+17G>A	noncoding	Benign
9	138058776	G	T	G138058776T	CACNA1B	NM_000718.4(CACNA1B):c.4473+43G>T	noncoding	Benign
9	138058845	G	A	G138058845A	CACNA1B	NM_000718.4(CACNA1B):c.4473+112G>A	noncoding	Benign
9	138069829	T	C	T138069829C	CACNA1B	NM_000718.4(CACNA1B):c.4674+66T>C	noncoding	Benign
9	138073770	C	T	C138073770T	CACNA1B	NM_000718.4(CACNA1B):c.4791+166C>T	noncoding	Benign
9	138073923	A	G	A138073923G	CACNA1B	NM_000718.4(CACNA1B):c.4792-78A>G	noncoding	Benign
9	138075885	T	C	T138075885C	CACNA1B	NM_000718.4(CACNA1B):c.4924T>C:p.Leu1642=	coding	Benign
9	138077806	G	C	G138077806C	CACNA1B	NM_000718.4(CACNA1B):c.4950-308G>C	noncoding	Benign
9	138077875	G	A	G138077875A	CACNA1B	NM_000718.4(CACNA1B):c.4950-239G>A	noncoding	Benign
9	138078435	G	A	G138078435A	CACNA1B	NM_000718.4(CACNA1B):c.5094+177G>A	noncoding	Benign
9	138096603	G	A	G138096603A	CACNA1B	NM_000718.4(CACNA1B):c.5214G>A:p.Pro1738=	coding	Benign
9	138096623	G	A	G138096623A	CACNA1B	NM_000718.4(CACNA1B):c.5222+12G>A	noncoding	Benign
9	138096907	A	G	A138096907G	CACNA1B	NM_000718.4(CACNA1B):c.5222+296A>G	noncoding	Benign
9	138102570	C	T	C138102570T	CACNA1B	NM_000718.4(CACNA1B):c.5223-141C>T	noncoding	Benign
9	138102694	C	T	C138102694T	CACNA1B	NM_000718.4(CACNA1B):c.5223-17C>T	noncoding	Benign
9	138102947	C	A	C138102947A	CACNA1B	NM_000718.4(CACNA1B):c.5319+140C>A	noncoding	Benign
9	138105468	A	G	A138105468G	CACNA1B	NM_000718.4(CACNA1B):c.5320-231A>G	noncoding	Benign
9	138112204	G	A	G138112204A	CACNA1B	NM_000718.4(CACNA1B):c.5429-194G>A	noncoding	Benign
9	138112215	G	A	G138112215A	CACNA1B	NM_000718.4(CACNA1B):c.5429-183G>A	noncoding	Benign
9	138114424	C	T	C138114424T	CACNA1B	NM_000718.4(CACNA1B):c.5583C>T:p.Phe1861=	coding	Benign
9	138114535	G	A	G138114535A	CACNA1B	NM_000718.4(CACNA1B):c.5649+45G>A	noncoding	Benign
9	138114563	C	T	C138114563T	CACNA1B	NM_000718.4(CACNA1B):c.5649+73C>T	noncoding	Benign
9	138115389	C	T	C138115389T	CACNA1B	NM_000718.4(CACNA1B):c.5650-163C>T	noncoding	Benign
9	138115905	G	C	G138115905C	CACNA1B	NM_000718.4(CACNA1B):c.5777+226G>C	noncoding	Benign
9	138116005	C	A	C138116005A	CACNA1B	NM_000718.4(CACNA1B):c.5777+326C>A	noncoding	Benign
9	138117612	A	G	A138117612G	CACNA1B	NM_000718.4(CACNA1B):c.5778-334A>G	noncoding	Benign
9	138118755	C	T	C138118755T	CACNA1B	NM_000718.4(CACNA1B):c.6017C>T:p.Ala2006Val	coding	Benign
9	138120159	C	T	C138120159T	CACNA1B	NM_000718.4(CACNA1B):c.6031-6C>T	noncoding	Benign
9	138120206	G	A	G138120206A	CACNA1B	NM_000718.4(CACNA1B):c.6072G>A:p.Thr2024=	coding	Benign
9	138120278	G	A	G138120278A	CACNA1B	NM_000718.4(CACNA1B):c.6144G>A:p.Ser2048=	coding	Benign
9	138120281	G	A	G138120281A	CACNA1B	NM_000718.4(CACNA1B):c.6147G>A:p.Ser2049=	coding	Benign
9	138120281	G	C	G138120281C	CACNA1B	NM_000718.4(CACNA1B):c.6147G>C:p.Ser2049=	coding	Benign
9	138120567	G	C	G138120567C	CACNA1B	NM_000718.4(CACNA1B):c.6239-64G>C	noncoding	Benign
9	138120824	C	T	C138120824T	CACNA1B	NM_000718.4(CACNA1B):c.6432C>T:p.Ser2144=	coding	Benign/Likely_benign
9	138120899	A	G	A138120899G	CACNA1B	NM_000718.4(CACNA1B):c.6489+18A>G	noncoding	Benign
9	138121151	T	C	T138121151C	CACNA1B	NM_000718.4(CACNA1B):c.6489+270T>C	noncoding	Benign
9	138121152	A	G	A138121152G	CACNA1B	NM_000718.4(CACNA1B):c.6489+271A>G	noncoding	Benign
9	138121717	G	C	G138121717C	CACNA1B	NM_000718.4(CACNA1B):c.6738G>C:p.Gln2246His	coding	Benign
9	138121810	T	G	T138121810G	CACNA1B	NM_000718.4(CACNA1B):c.6831T>G:p.Thr2277=	coding	Benign
9	138121906	C	T	C138121906T	CACNA1B	NM_000718.4(CACNA1B):c.6927C>T:p.Arg2309=	coding	Benign
9	138122079	C	T	C138122079T	CACNA1B	NM_000718.4(CACNA1B):c.*80C>T	noncoding	Benign
9	138122165	G	A	G138122165A	CACNA1B	NM_000718.4(CACNA1B):c.*166G>A	noncoding	Benign
9	138122299	C	T	C138122299T	CACNA1B	NM_000718.4(CACNA1B):c.*300C>T	noncoding	Benign
10	236865	C	T	C236865T	ZMYND11	NM_001370100.5(ZMYND11):c.466C>T:p.Gln156Ter	coding	Pathogenic
10	236957	C	T	C236957T	ZMYND11	NM_001370100.5(ZMYND11):c.516+42C>T	noncoding	Benign
10	239458	C	G	C239458G	ZMYND11	NM_001370100.5(ZMYND11):c.630C>G:p.Tyr210Ter	coding	Pathogenic
10	240067	C	T	C240067T	ZMYND11	NM_001370100.5(ZMYND11):c.709C>T:p.Gln237Ter	coding	Pathogenic
10	246904	G	A	G246904A	ZMYND11	NM_001370100.5(ZMYND11):c.1089G>A:p.Trp363Ter	coding	Pathogenic
10	246987	C	A	C246987A	ZMYND11	NM_001370100.5(ZMYND11):c.1158+14C>A	noncoding	Benign
10	249013	A	G	A249013G	ZMYND11	NM_001370100.5(ZMYND11):c.1611A>G:p.Glu537=	coding	Benign
10	252347	G	A	G252347A	ZMYND11	NM_001370100.5(ZMYND11):c.1687-1G>A	noncoding	Pathogenic
10	252417	C	T	C252417T	ZMYND11	NM_001370100.5(ZMYND11):c.1756C>T:p.Gln586Ter	coding	Pathogenic
10	252430	G	A	G252430A	ZMYND11	NM_001370100.5(ZMYND11):c.1769G>A:p.Trp590Ter	coding	Pathogenic
10	277343	A	G	A277343G	DIP2C	NM_014974.3(DIP2C):c.4653T>C:p.Tyr1551=	coding	Benign
10	277427	G	A	G277427A	DIP2C	NM_014974.3(DIP2C):c.4569C>T:p.Gly1523=	coding	Benign
10	277502	C	T	C277502T	DIP2C	NM_014974.3(DIP2C):c.4494G>A:p.Leu1498=	coding	Benign
10	281286	G	A	G281286A	DIP2C	NM_014974.3(DIP2C):c.4332C>T:p.Asp1444=	coding	Benign
10	283265	C	A	C283265A	DIP2C	NM_014974.3(DIP2C):c.4294+7G>T	noncoding	Benign
10	286259	G	A	G286259A	DIP2C	NM_014974.3(DIP2C):c.4119+14C>T	noncoding	Benign
10	286339	T	G	T286339G	DIP2C	NM_014974.3(DIP2C):c.4053A>C:p.Pro1351=	coding	Benign
10	310016	A	G	A310016G	DIP2C	NM_014974.3(DIP2C):c.3986+15T>C	noncoding	Benign
10	326994	G	A	G326994A	DIP2C	NM_014974.3(DIP2C):c.3924+12C>T	noncoding	Benign
10	327009	C	T	C327009T	DIP2C	NM_014974.3(DIP2C):c.3921G>A:p.Leu1307=	coding	Benign
10	327099	C	T	C327099T	DIP2C	NM_014974.3(DIP2C):c.3831G>A:p.Gln1277=	coding	Benign
10	327108	T	C	T327108C	DIP2C	NM_014974.3(DIP2C):c.3822A>G:p.Ala1274=	coding	Benign
10	327193	A	G	A327193G	DIP2C	NM_014974.3(DIP2C):c.3754-17T>C	noncoding	Benign
10	329484	G	C	G329484C	DIP2C	NM_014974.3(DIP2C):c.3702C>G:p.Ser1234=	coding	Benign
10	341190	G	A	G341190A	DIP2C	NM_014974.3(DIP2C):c.3584+9C>T	noncoding	Benign
10	348621	G	C	G348621C	DIP2C	NM_014974.3(DIP2C):c.3231+20C>G	noncoding	Benign
10	348692	C	T	C348692T	DIP2C	NM_014974.3(DIP2C):c.3180G>A:p.Pro1060=	coding	Benign
10	348774	G	A	G348774A	DIP2C	NM_014974.3(DIP2C):c.3110-12C>T	noncoding	Benign
10	349326	T	C	T349326C	DIP2C	NM_014974.3(DIP2C):c.3109+5A>G	noncoding	Benign
10	362578	A	G	A362578G	DIP2C	NM_014974.3(DIP2C):c.2706T>C:p.Phe902=	coding	Benign
10	363281	G	A	G363281A	DIP2C	NM_014974.3(DIP2C):c.2508C>T:p.His836=	coding	Benign
10	363305	G	A	G363305A	DIP2C	NM_014974.3(DIP2C):c.2484C>T:p.Ala828=	coding	Benign
10	364376	T	C	T364376C	DIP2C	NM_014974.3(DIP2C):c.2475A>G:p.Gly825=	coding	Benign
10	364446	C	T	C364446T	DIP2C	NM_014974.3(DIP2C):c.2405G>A:p.Arg802His	coding	Benign
10	364526	T	C	T364526C	DIP2C	NM_014974.3(DIP2C):c.2325A>G:p.Thr775=	coding	Benign
10	369478	C	T	C369478T	DIP2C	NM_014974.3(DIP2C):c.2131+16G>A	noncoding	Benign
10	384037	G	A	G384037A	DIP2C	NM_014974.3(DIP2C):c.1866C>T:p.Gly622=	coding	Benign
10	384160	T	C	T384160C	DIP2C	NM_014974.3(DIP2C):c.1757-14A>G	noncoding	Benign
10	384165	A	G	A384165G	DIP2C	NM_014974.3(DIP2C):c.1757-19T>C	noncoding	Benign
10	387727	C	T	C387727T	DIP2C	NM_014974.3(DIP2C):c.1662+18G>A	noncoding	Benign
10	387769	G	A	G387769A	DIP2C	NM_014974.3(DIP2C):c.1638C>T:p.Val546=	coding	Benign
10	390389	C	G	C390389G	DIP2C	NM_014974.3(DIP2C):c.1385-16G>C	noncoding	Benign
10	390730	G	A	G390730A	DIP2C	NM_014974.3(DIP2C):c.1384+10C>T	noncoding	Benign
10	399121	C	T	C399121T	DIP2C	NM_014974.3(DIP2C):c.1248G>A:p.Pro416=	coding	Benign
10	414000	G	A	G414000A	DIP2C	NM_014974.3(DIP2C):c.970C>T:p.Leu324=	coding	Benign
10	422808	C	T	C422808T	DIP2C	NM_014974.3(DIP2C):c.604+16G>A	noncoding	Benign
10	422870	G	A	G422870A	DIP2C	NM_014974.3(DIP2C):c.558C>T:p.Ser186=	coding	Benign
10	422885	C	T	C422885T	DIP2C	NM_014974.3(DIP2C):c.543G>A:p.Thr181=	coding	Benign
10	440884	G	A	G440884A	DIP2C	NM_014974.3(DIP2C):c.381C>T:p.Ala127=	coding	Benign
10	440887	G	A	G440887A	DIP2C	NM_014974.3(DIP2C):c.378C>T:p.Asp126=	coding	Benign
10	472497	G	A	G472497A	DIP2C	NM_014974.3(DIP2C):c.210C>T:p.Ser70=	coding	Benign
10	486526	G	A	G486526A	DIP2C	NM_014974.3(DIP2C):c.90C>T:p.Asp30=	coding	Benign
10	689528	C	T	C689528T	DIP2C	NM_014974.3(DIP2C):c.51G>A:p.Ala17=	coding	Benign
10	1000772	G	A	G1000772A	GTPBP4	NM_012341.3(GTPBP4):c.750G>A:p.Ala250=	coding	Benign
10	1080454	C	T	C1080454T	WDR37	NM_014023.4(WDR37):c.374C>T:p.Thr125Ile	coding	Pathogenic/Likely_pathogenic
10	1080469	C	T	C1080469T	WDR37	NM_014023.4(WDR37):c.389C>T:p.Thr130Ile	coding	Pathogenic/Likely_pathogenic
10	1096268	T	C	T1096268C	WDR37	NM_014023.4(WDR37):c.726+22T>C	noncoding	Benign
10	3137566	G	A	G3137566A	-	Single_allele	noncoding	Benign
10	3138035	T	C	T3138035C	PITRM1	NM_014889.4(PITRM1):c.3110A>G:p.Gln1037Arg	coding	Benign
10	3138096	C	T	C3138096T	PITRM1	NM_014889.4(PITRM1):c.3049G>A:p.Gly1017Ser	coding	Benign
10	3138106	C	T	C3138106T	PITRM1	NM_014889.4(PITRM1):c.3039G>A:p.Lys1013=	coding	Benign
10	3138124	T	C	T3138124C	PITRM1	NM_014889.4(PITRM1):c.3021A>G:p.Arg1007=	coding	Benign
10	3138142	G	A	G3138142A	PITRM1	NM_014889.4(PITRM1):c.3021-18C>T	noncoding	Benign
10	3138915	G	A	G3138915A	PITRM1	NM_014889.4(PITRM1):c.2906C>T:p.Pro969Leu	coding	Benign
10	3138934	C	T	C3138934T	PITRM1	NM_014889.4(PITRM1):c.2887G>A:p.Val963Ile	coding	Benign
10	3139029	G	A	G3139029A	PITRM1	NM_014889.4(PITRM1):c.2792C>T:p.Thr931Met	coding	Pathogenic
10	3140811	G	A	G3140811A	PITRM1	NM_014889.4(PITRM1):c.2647C>T:p.Leu883Phe	coding	Benign
10	3144334	G	C	G3144334C	PITRM1	NM_014889.4(PITRM1):c.2490C>G:p.Ala830=	coding	Benign
10	3145732	T	C	T3145732C	PITRM1	NM_014889.4(PITRM1):c.2337-16A>G	coding	Benign
10	3147188	C	T	C3147188T	PITRM1	NM_014889.4(PITRM1):c.2298G>A:p.Pro766=	coding	Benign
10	3149631	C	T	C3149631T	PITRM1	NM_014889.4(PITRM1):c.1861G>A:p.Val621Ile	coding	Benign
10	3149638	G	C	G3149638C	PITRM1	NM_014889.4(PITRM1):c.1854C>G:p.Phe618Leu	coding	Benign
10	3151235	G	A	G3151235A	PITRM1	NM_014889.4(PITRM1):c.1738+12C>T	noncoding	Benign
10	3151260	G	A	G3151260A	PITRM1	NM_014889.4(PITRM1):c.1725C>T:p.Asp575=	coding	Benign
10	3155664	C	G	C3155664G	PITRM1	NM_014889.4(PITRM1):c.1548G>C:p.Gln516His	coding	Benign
10	3155679	G	A	G3155679A	PITRM1	NM_014889.4(PITRM1):c.1533C>T:p.His511=	coding	Benign
10	3157081	C	T	C3157081T	PITRM1	NM_014889.4(PITRM1):c.1348-17G>A	noncoding	Benign
10	3158057	C	T	C3158057T	PITRM1	NM_014889.4(PITRM1):c.1233G>A:p.Thr411=	coding	Benign
10	3158100	G	A	G3158100A	PITRM1	NM_014889.4(PITRM1):c.1190C>T:p.Ala397Val	coding	Benign
10	3158127	T	C	T3158127C	PITRM1	NM_014889.4(PITRM1):c.1163A>G:p.Tyr388Cys	coding	Benign
10	3158905	T	C	T3158905C	PITRM1	NM_014889.4(PITRM1):c.1136+9A>G	noncoding	Benign
10	3159873	T	C	T3159873C	PITRM1	NM_014889.4(PITRM1):c.982A>G:p.Ile328Val	coding	Benign
10	3159948	C	T	C3159948T	PITRM1	NM_014889.4(PITRM1):c.919-12G>A	noncoding	Benign
10	3159954	G	T	G3159954T	PITRM1	NM_014889.4(PITRM1):c.919-18C>A	noncoding	Benign
10	3163835	A	G	A3163835G	PITRM1	NM_014889.4(PITRM1):c.681T>C:p.Pro227=	coding	Benign
10	3165241	C	T	C3165241T	PITRM1	NM_014889.4(PITRM1):c.627G>A:p.Ala209=	coding	Benign
10	3165320	C	T	C3165320T	PITRM1	NM_014889.4(PITRM1):c.548G>A:p.Arg183Gln	coding	Pathogenic
10	3165440	A	G	A3165440G	PITRM1	NM_014889.4(PITRM1):c.506T>C:p.Phe169Ser	coding	Benign
10	3165513	G	C	G3165513C	PITRM1	NM_014889.4(PITRM1):c.433C>G:p.Leu145Val	coding	Benign
10	3166320	G	A	G3166320A	PITRM1	NM_014889.4(PITRM1):c.327C>T:p.Thr109=	coding	Benign
10	3166365	A	G	A3166365G	PITRM1	NM_014889.4(PITRM1):c.282T>C:p.Thr94=	coding	Benign
10	3172745	G	A	G3172745A	PITRM1	NM_014889.4(PITRM1):c.28C>T:p.Leu10=	coding	Benign
10	3172750	T	C	T3172750C	PITRM1	NM_014889.4(PITRM1):c.23A>G:p.Gln8Arg	coding	Benign
10	4826111	T	A	T4826111A	AKR1E2	Single_allele	noncoding	Benign
10	4826253	G	T	G4826253T	AKR1E2	NM_001040177.3(AKR1E2):c.-72G>T	noncoding	Benign
10	4826373	T	C	T4826373C	AKR1E2	NM_001040177.3(AKR1E2):c.39+10T>C	noncoding	Benign
10	4830364	C	G	C4830364G	AKR1E2	NM_001040177.3(AKR1E2):c.40-311C>G	noncoding	Benign
10	4830381	G	A	G4830381A	AKR1E2	NM_001040177.3(AKR1E2):c.40-294G>A	noncoding	Benign
10	4830425	C	T	C4830425T	AKR1E2	NM_001040177.3(AKR1E2):c.40-250C>T	noncoding	Benign
10	4830495	T	G	T4830495G	AKR1E2	NM_001040177.3(AKR1E2):c.40-180T>G	noncoding	Benign
10	4830577	T	C	T4830577C	AKR1E2	NM_001040177.3(AKR1E2):c.40-98T>C	noncoding	Benign
10	4830695	C	A	C4830695A	AKR1E2	NM_001040177.3(AKR1E2):c.60C>A:p.Thr20=	coding	Benign
10	4830719	C	T	C4830719T	AKR1E2	NM_001040177.3(AKR1E2):c.84C>T:p.Asp28=	coding	Benign
10	4830914	T	C	T4830914C	AKR1E2	NM_001040177.3(AKR1E2):c.207+72T>C	noncoding	Benign
10	4833070	A	G	A4833070G	AKR1E2	NM_001040177.3(AKR1E2):c.208-280A>G	noncoding	Benign
10	4833084	C	T	C4833084T	AKR1E2	NM_001040177.3(AKR1E2):c.208-266C>T	noncoding	Benign
10	4833208	C	T	C4833208T	AKR1E2	NM_001040177.3(AKR1E2):c.208-142C>T	noncoding	Benign
10	4833263	C	T	C4833263T	AKR1E2	NM_001040177.3(AKR1E2):c.208-87C>T	noncoding	Benign
10	4833399	A	G	A4833399G	AKR1E2	NM_001040177.3(AKR1E2):c.257A>G:p.Lys86Arg	coding	Benign
10	4833472	G	A	G4833472A	AKR1E2	NM_001040177.3(AKR1E2):c.324+6G>A	noncoding	Benign
10	4833702	G	T	G4833702T	AKR1E2	NM_001040177.3(AKR1E2):c.324+236G>T	noncoding	Benign
10	4833731	A	G	A4833731G	AKR1E2	NM_001040177.3(AKR1E2):c.324+265A>G	noncoding	Benign
10	4835889	G	A	G4835889A	AKR1E2	NM_001040177.3(AKR1E2):c.459+80G>A	noncoding	Benign
10	4835940	A	C	A4835940C	AKR1E2	NM_001040177.3(AKR1E2):c.459+131A>C	noncoding	Benign
10	4835955	C	T	C4835955T	AKR1E2	NM_001040177.3(AKR1E2):c.459+146C>T	noncoding	Benign
10	4836012	T	C	T4836012C	AKR1E2	NM_001040177.3(AKR1E2):c.459+203T>C	noncoding	Benign
10	4836040	A	G	A4836040G	AKR1E2	NM_001040177.3(AKR1E2):c.459+231A>G	noncoding	Benign
10	4836083	T	G	T4836083G	AKR1E2	NM_001040177.3(AKR1E2):c.459+274T>G	noncoding	Benign
10	4836123	C	T	C4836123T	AKR1E2	NM_001040177.3(AKR1E2):c.459+314C>T	noncoding	Benign
10	4836127	T	C	T4836127C	AKR1E2	NM_001040177.3(AKR1E2):c.459+318T>C	noncoding	Benign
10	4836129	C	T	C4836129T	AKR1E2	NM_001040177.3(AKR1E2):c.459+320C>T	noncoding	Benign
10	4837180	C	G	C4837180G	AKR1E2	NM_001040177.3(AKR1E2):c.460-279C>G	noncoding	Benign
10	4837188	C	T	C4837188T	AKR1E2	NM_001040177.3(AKR1E2):c.460-271C>T	noncoding	Benign
10	4837221	T	C	T4837221C	AKR1E2	NM_001040177.3(AKR1E2):c.460-238T>C	noncoding	Benign
10	4837233	A	G	A4837233G	AKR1E2	NM_001040177.3(AKR1E2):c.460-226A>G	noncoding	Benign
10	4837273	T	C	T4837273C	AKR1E2	NM_001040177.3(AKR1E2):c.460-186T>C	noncoding	Benign
10	4837556	T	G	T4837556G	AKR1E2	NM_001040177.3(AKR1E2):c.557T>G:p.Leu186Trp	coding	Benign
10	4837723	T	C	T4837723C	AKR1E2	NM_001040177.3(AKR1E2):c.582+142T>C	noncoding	Benign
10	4837885	T	C	T4837885C	AKR1E2	NM_001040177.3(AKR1E2):c.582+304T>C	noncoding	Benign
10	4839631	C	G	C4839631G	AKR1E2	NM_001040177.3(AKR1E2):c.583-98C>G	noncoding	Benign
10	4839654	C	T	C4839654T	AKR1E2	NM_001040177.3(AKR1E2):c.583-75C>T	noncoding	Benign
10	4839675	C	T	C4839675T	AKR1E2	NM_001040177.3(AKR1E2):c.583-54C>T	noncoding	Benign
10	4839743	A	G	A4839743G	AKR1E2	NM_001040177.3(AKR1E2):c.597A>G:p.Pro199=	coding	Benign
10	4839903	C	T	C4839903T	AKR1E2	NM_001040177.3(AKR1E2):c.680+77C>T	noncoding	Benign
10	4841884	A	G	A4841884G	AKR1E2	NM_001040177.3(AKR1E2):c.753+27A>G	noncoding	Benign
10	4842019	C	T	C4842019T	AKR1E2	NM_001040177.3(AKR1E2):c.753+162C>T	noncoding	Benign
10	4842025	T	C	T4842025C	AKR1E2	NM_001040177.3(AKR1E2):c.753+168T>C	noncoding	Benign
10	4842052	C	T	C4842052T	AKR1E2	NM_001040177.3(AKR1E2):c.753+195C>T	noncoding	Benign
10	4842130	A	C	A4842130C	AKR1E2	NM_001040177.3(AKR1E2):c.753+273A>C	noncoding	Benign
10	4842234	C	G	C4842234G	AKR1E2	NM_001040177.3(AKR1E2):c.754-187C>G	noncoding	Benign
10	4842255	G	T	G4842255T	AKR1E2	NM_001040177.3(AKR1E2):c.754-166G>T	noncoding	Benign
10	4842450	T	C	T4842450C	AKR1E2	NM_001040177.3(AKR1E2):c.783T>C:p.Asn261=	coding	Benign
10	4842529	G	A	G4842529A	AKR1E2	NM_001040177.3(AKR1E2):c.837+25G>A	noncoding	Benign
10	4842592	T	C	T4842592C	AKR1E2	NM_001040177.3(AKR1E2):c.837+88T>C	noncoding	Benign
10	4842608	A	G	A4842608G	AKR1E2	NM_001040177.3(AKR1E2):c.837+104A>G	noncoding	Benign
10	4842616	T	C	T4842616C	AKR1E2	NM_001040177.3(AKR1E2):c.837+112T>C	noncoding	Benign
10	4842771	T	A	T4842771A	AKR1E2	NM_001040177.3(AKR1E2):c.837+267T>A	noncoding	Benign
10	4846947	C	A	C4846947A	AKR1E2	NM_001040177.3(AKR1E2):c.838-201C>A	noncoding	Benign
10	4847211	C	T	C4847211T	AKR1E2	NM_001040177.3(AKR1E2):c.901C>T:p.Arg301Ter	coding	Benign
10	4847283	G	T	G4847283T	AKR1E2	NM_001040177.3(AKR1E2):c.920+53G>T	coding	Benign
10	4847333	T	C	T4847333C	AKR1E2	NM_001040177.3(AKR1E2):c.920+103T>C	noncoding	Benign
10	4847448	T	C	T4847448C	AKR1E2	NM_001040177.3(AKR1E2):c.921-40T>C	noncoding	Benign
10	4847470	T	G	T4847470G	AKR1E2	NM_001040177.3(AKR1E2):c.921-18T>G	noncoding	Benign
10	4847538	T	A	T4847538A	AKR1E2	NM_001040177.3(AKR1E2):c.*8T>A	noncoding	Benign
10	4847540	C	T	C4847540T	AKR1E2	NM_001040177.3(AKR1E2):c.*10C>T	noncoding	Benign
10	4847578	T	C	T4847578C	AKR1E2	NM_001040177.3(AKR1E2):c.*48T>C	noncoding	Benign
10	4847614	C	T	C4847614T	AKR1E2	NM_001040177.3(AKR1E2):c.*84C>T	noncoding	Benign
10	4847782	G	A	G4847782A	AKR1E2	NM_001040177.3(AKR1E2):c.*252G>A	noncoding	Benign
10	4989685	C	T	C4989685T	AKR1C2	NM_001393392.1(AKR1C2):c.*311G>A	noncoding	Benign
10	4989699	G	T	G4989699T	AKR1C2	NM_001393392.1(AKR1C2):c.*297C>A	noncoding	Benign
10	4989823	C	T	C4989823T	AKR1C2	NM_001393392.1(AKR1C2):c.*173G>A	noncoding	Benign
10	4990092	C	T	C4990092T	AKR1C2	NM_001393392.1(AKR1C2):c.930-54G>A	noncoding	Benign
10	4990094	C	G	C4990094G	AKR1C2	NM_001393392.1(AKR1C2):c.930-56G>C	noncoding	Benign
10	4990242	C	A	C4990242A	AKR1C2	NM_001393392.1(AKR1C2):c.930-204G>T	noncoding	Benign
10	4991645	C	A	C4991645A	AKR1C2	NM_001393392.1(AKR1C2):c.929+186G>T	noncoding	Benign
10	4991646	A	G	A4991646G	AKR1C2	NM_001393392.1(AKR1C2):c.929+185T>C	noncoding	Benign
10	4991824	T	C	T4991824C	AKR1C2	NM_001393392.1(AKR1C2):c.929+7A>G	noncoding	Benign
10	4991964	A	G	A4991964G	AKR1C2	NM_001393392.1(AKR1C2):c.847-51T>C	noncoding	Benign
10	4992025	C	T	C4992025T	AKR1C2	NM_001393392.1(AKR1C2):c.847-112G>A	noncoding	Benign
10	4992190	T	C	T4992190C	AKR1C2	NM_001393392.1(AKR1C2):c.847-277A>G	noncoding	Benign
10	4995068	T	C	T4995068C	AKR1C2	NM_001393392.1(AKR1C2):c.846+251A>G	noncoding	Benign
10	4995523	G	C	G4995523C	AKR1C2	NM_001393392.1(AKR1C2):c.681-39C>G	noncoding	Benign
10	4995526	A	G	A4995526G	AKR1C2	NM_001393392.1(AKR1C2):c.681-42T>C	noncoding	Benign
10	4995721	A	G	A4995721G	AKR1C2	NM_001393392.1(AKR1C2):c.680+35T>C	noncoding	Benign
10	4995722	G	C	G4995722C	AKR1C2	NM_001393392.1(AKR1C2):c.680+34C>G	noncoding	Benign
10	4995770	A	G	A4995770G	AKR1C2	NM_001393392.1(AKR1C2):c.666T>C:p.His222=	coding	Benign
10	4995913	T	C	T4995913C	AKR1C2	NM_001393392.1(AKR1C2):c.571-48A>G	noncoding	Benign
10	4995957	G	C	G4995957C	AKR1C2	NM_001393392.1(AKR1C2):c.571-92C>G	noncoding	Benign
10	4998326	G	A	G4998326A	AKR1C2	NM_001393392.1(AKR1C2):c.570+299C>T	noncoding	Benign
10	4998445	C	T	C4998445T	AKR1C2	NM_001393392.1(AKR1C2):c.570+180G>A	noncoding	Benign
10	4998480	A	C	A4998480C	AKR1C2	NM_001393392.1(AKR1C2):c.570+145T>G	noncoding	Benign
10	4998545	A	T	A4998545T	AKR1C2	NM_001393392.1(AKR1C2):c.570+80T>A	noncoding	Benign
10	4998841	C	T	C4998841T	AKR1C2	NM_001393392.1(AKR1C2):c.448-94G>A	noncoding	Benign
10	4999104	C	A	C4999104A	AKR1C2	NM_001393392.1(AKR1C2):c.447+96G>T	noncoding	Benign
10	4999183	C	T	C4999183T	AKR1C2	NM_001393392.1(AKR1C2):c.447+17G>A	noncoding	Benign
10	4999385	C	T	C4999385T	AKR1C2	NM_001393392.1(AKR1C2):c.370-108G>A	noncoding	Benign
10	4999402	G	A	G4999402A	AKR1C2	NM_001393392.1(AKR1C2):c.370-125C>T	noncoding	Benign
10	4999466	A	G	A4999466G	AKR1C2	NM_001393392.1(AKR1C2):c.370-189T>C	noncoding	Benign
10	4999488	A	G	A4999488G	AKR1C2	NM_001393392.1(AKR1C2):c.370-211T>C	noncoding	Benign
10	5000102	T	C	T5000102C	AKR1C2	NM_001393392.1(AKR1C2):c.369+448A>G	coding	Benign
10	5000124	A	T	A5000124T	AKR1C2	NM_001393392.1(AKR1C2):c.369+426T>A	coding	Benign
10	5000128	A	G	A5000128G	AKR1C2	NM_001393392.1(AKR1C2):c.369+422T>C	coding	Benign
10	5000472	C	T	C5000472T	AKR1C2	NM_001393392.1(AKR1C2):c.369+78G>A	noncoding	Benign
10	5000592	G	A	G5000592A	AKR1C2	NM_001393392.1(AKR1C2):c.327C>T:p.Asp109=	coding	Benign
10	5000928	C	T	C5000928T	AKR1C2	NM_001393392.1(AKR1C2):c.253-262G>A	noncoding	Benign
10	5001312	G	A	G5001312A	AKR1C2	NM_001393392.1(AKR1C2):c.252+202C>T	noncoding	Benign
10	5001629	A	T	A5001629T	AKR1C2	NM_001393392.1(AKR1C2):c.137T>A:p.Phe46Tyr	coding	Benign
10	5001841	T	G	T5001841G	AKR1C2	NM_001393392.1(AKR1C2):c.85-160A>C	noncoding	Benign
10	5001904	A	G	A5001904G	AKR1C2	NM_001393392.1(AKR1C2):c.85-223T>C	noncoding	Benign
10	5003508	A	G	A5003508G	AKR1C2	NM_001393392.1(AKR1C2):c.84+244T>C	noncoding	Benign
10	5003531	T	G	T5003531G	AKR1C2	NM_001393392.1(AKR1C2):c.84+221A>C	noncoding	Benign
10	5003612	C	A	C5003612A	AKR1C2	NM_001393392.1(AKR1C2):c.84+140G>T	noncoding	Benign
10	5003642	T	G	T5003642G	AKR1C2	NM_001393392.1(AKR1C2):c.84+110A>C	noncoding	Benign
10	5003670	A	G	A5003670G	AKR1C2	NM_001393392.1(AKR1C2):c.84+82T>C	noncoding	Benign
10	5004176	C	T	C5004176T	AKR1C2	NM_001354.6(AKR1C2):c.-179-162G>A	noncoding	Benign
10	5200201	A	G	A5200201G	AKR1C4	NM_001818.5(AKR1C4):c.105A>G:p.Val35=	coding	Benign
10	5960405	T	G	T5960405G	IL15RA	NM_002189.4(IL15RA):c.545A>C:p.Asn182Thr	coding	Benign
10	6019516	A	C	A6019516C	IL2RA	NM_000417.3(IL2RA):c.656-17T>G	noncoding	Benign
10	6021709	A	G	A6021709G	IL2RA	NM_000417.3(IL2RA):c.368-16T>C	noncoding	Benign
10	6021711	T	C	T6021711C	IL2RA	NM_000417.3(IL2RA):c.368-18A>G	noncoding	Benign
10	6026045	T	C	T6026045C	IL2RA	NM_000417.3(IL2RA):c.65-20A>G	noncoding	Benign
10	6485181	G	A	G6485181A	PRKCQ	NM_006257.5(PRKCQ):c.989C>T:p.Pro330Leu	coding	Benign
10	8058162	A	G	A8058162G	GATA3	NM_001002295.2(GATA3):c.242-143A>G	noncoding	Benign
10	8058738	C	A	C8058738A	GATA3	NM_001002295.2(GATA3):c.675C>A:p.Tyr225Ter	coding	Pathogenic
10	8058842	G	A	G8058842A	GATA3	NM_001002295.2(GATA3):c.778+1G>A	coding	Pathogenic
10	8058906	C	T	C8058906T	GATA3	NM_001002295.2(GATA3):c.778+65C>T	noncoding	Benign
10	8062245	C	A	C8062245A	GATA3	NM_001002295.2(GATA3):c.779-1748C>A	noncoding	Benign
10	8063782	G	A	G8063782A	GATA3	NM_001002295.2(GATA3):c.779-211G>A	noncoding	Benign
10	8063992	G	C	G8063992C	GATA3	NM_001002295.2(GATA3):c.779-1G>C	noncoding	Pathogenic
10	8064029	C	T	C8064029T	GATA3	NM_001002295.2(GATA3):c.815C>T:p.Thr272Ile	coding	Pathogenic
10	8064078	C	G	C8064078G	GATA3	NM_001002295.2(GATA3):c.864C>G:p.Cys288Trp	coding	Pathogenic
10	8064130	C	T	C8064130T	GATA3	NM_001002295.2(GATA3):c.916C>T:p.Arg306Ter	coding	Pathogenic
10	8064172	A	G	A8064172G	GATA3	NM_001002295.2(GATA3):c.924+34A>G	noncoding	Benign
10	8064311	C	T	C8064311T	GATA3	NM_001002295.2(GATA3):c.924+173C>T	noncoding	Benign
10	8064390	G	A	G8064390A	GATA3	NM_001002295.2(GATA3):c.924+252G>A	noncoding	Benign
10	8069205	C	T	C8069205T	GATA3	NM_001002295.2(GATA3):c.925-268C>T	noncoding	Benign
10	8069446	C	T	C8069446T	GATA3	NM_001002295.2(GATA3):c.925-27C>T	noncoding	Benign
10	8069600	T	C	T8069600C	GATA3	NM_001002295.2(GATA3):c.1050+2T>C	noncoding	Pathogenic
10	8069617	G	A	G8069617A	GATA3	NM_001002295.2(GATA3):c.1050+19G>A	noncoding	Benign/Likely_benign
10	11270756	C	T	C11270756T	CELF2	NM_001326342.2(CELF2):c.709C>T:p.Gln237Ter	coding	Pathogenic/Likely_pathogenic
10	11329003	C	G	C11329003G	CELF2	NM_001326342.2(CELF2):c.1516C>G:p.Arg506Gly	coding	Pathogenic
10	11329003	C	T	C11329003T	CELF2	NM_001326342.2(CELF2):c.1516C>T:p.Arg506Cys	coding	Pathogenic
10	11329004	G	A	G11329004A	CELF2	NM_001326342.2(CELF2):c.1517G>A:p.Arg506His	coding	Pathogenic
10	11329045	C	T	C11329045T	CELF2	NM_001326342.2(CELF2):c.1558C>T:p.Pro520Ser	coding	Pathogenic
10	11329050	C	G	C11329050G	CELF2	NM_001326342.2(CELF2):c.1563C>G:p.Tyr521Ter	coding	Pathogenic
10	12069091	T	C	T12069091C	DHTKD1	NM_018706.7(DHTKD1):c.58T>C:p.Phe20Leu	coding	Benign
10	12081388	T	C	T12081388C	DHTKD1	NM_018706.7(DHTKD1):c.155-84T>C	noncoding	Benign
10	12081667	C	T	C12081667T	DHTKD1	NM_018706.7(DHTKD1):c.310+40C>T	noncoding	Benign
10	12081668	A	C	A12081668C	DHTKD1	NM_018706.7(DHTKD1):c.310+41A>C	noncoding	Benign
10	12081772	C	A	C12081772A	DHTKD1	NM_018706.7(DHTKD1):c.310+145C>A	noncoding	Benign
10	12087349	C	G	C12087349G	DHTKD1	NM_018706.7(DHTKD1):c.523-186C>G	noncoding	Benign
10	12087640	G	T	G12087640T	DHTKD1	NM_018706.7(DHTKD1):c.628G>T:p.Ala210Ser	coding	Benign/Likely_benign
10	12089082	T	G	T12089082G	DHTKD1	NM_018706.7(DHTKD1):c.814T>G:p.Tyr272Asp	coding	Benign
10	12089219	C	T	C12089219T	DHTKD1	NM_018706.7(DHTKD1):c.951C>T:p.Asn317=	coding	Benign
10	12089275	T	C	T12089275C	DHTKD1	NM_018706.7(DHTKD1):c.987+20T>C	noncoding	Benign
10	12093889	G	A	G12093889A	DHTKD1	NM_018706.7(DHTKD1):c.1160-184G>A	noncoding	Benign
10	12097688	C	T	C12097688T	DHTKD1	NM_018706.7(DHTKD1):c.1363C>T:p.Arg455Ter	coding	Pathogenic/Likely_pathogenic
10	12097885	C	T	C12097885T	DHTKD1	NM_018706.7(DHTKD1):c.1560C>T:p.Thr520=	coding	Benign
10	12098031	C	G	C12098031G	DHTKD1	NM_018706.7(DHTKD1):c.1671+35C>G	noncoding	Benign
10	12100201	C	T	C12100201T	DHTKD1	NM_018706.7(DHTKD1):c.1695C>T:p.Asp565=	coding	Benign
10	12100278	T	C	T12100278C	DHTKD1	NM_018706.7(DHTKD1):c.1756+16T>C	noncoding	Benign
10	12100302	G	T	G12100302T	DHTKD1	NM_018706.7(DHTKD1):c.1756+40G>T	noncoding	Benign
10	12100303	A	T	A12100303T	DHTKD1	NM_018706.7(DHTKD1):c.1756+41A>T	noncoding	Benign
10	12100304	G	T	G12100304T	DHTKD1	NM_018706.7(DHTKD1):c.1756+42G>T	noncoding	Benign
10	12100862	C	T	C12100862T	DHTKD1	NM_018706.7(DHTKD1):c.1757-180C>T	noncoding	Benign
10	12101106	C	G	C12101106G	DHTKD1	NM_018706.7(DHTKD1):c.1821C>G:p.Ile607Met	coding	Benign
10	12101117	A	G	A12101117G	DHTKD1	NM_018706.7(DHTKD1):c.1832A>G:p.Gln611Arg	coding	Benign/Likely_benign
10	12101321	G	A	G12101321A	DHTKD1	NM_018706.7(DHTKD1):c.1896+140G>A	noncoding	Benign
10	12106120	A	C	A12106120C	DHTKD1	NM_018706.7(DHTKD1):c.1897-126A>C	noncoding	Benign
10	12106245	G	A	G12106245A	DHTKD1	NM_018706.7(DHTKD1):c.1897-1G>A	noncoding	Pathogenic
10	12106260	A	C	A12106260C	DHTKD1	NM_018706.7(DHTKD1):c.1911A>C:p.Pro637=	coding	Benign
10	12106287	T	C	T12106287C	DHTKD1	NM_018706.7(DHTKD1):c.1938T>C:p.Phe646=	coding	Benign
10	12107809	G	T	G12107809T	DHTKD1	NM_018706.7(DHTKD1):c.2048-100G>T	noncoding	Benign
10	12107897	G	T	G12107897T	DHTKD1	NM_018706.7(DHTKD1):c.2048-12G>T	noncoding	Benign
10	12107940	C	T	C12107940T	DHTKD1	NM_018706.7(DHTKD1):c.2079C>T:p.Ile693=	coding	Benign
10	12112834	C	T	C12112834T	DHTKD1	NM_018706.7(DHTKD1):c.2155-66C>T	noncoding	Benign
10	12117473	A	C	A12117473C	DHTKD1	NM_018706.7(DHTKD1):c.2320-200A>C	noncoding	Benign
10	12117648	A	G	A12117648G	DHTKD1	NM_018706.7(DHTKD1):c.2320-25A>G	noncoding	Benign
10	12117668	C	T	C12117668T	DHTKD1	NM_018706.7(DHTKD1):c.2320-5C>T	noncoding	Benign
10	12117669	G	A	G12117669A	DHTKD1	NM_018706.7(DHTKD1):c.2320-4G>A	noncoding	Benign
10	12118905	C	G	C12118905G	DHTKD1	NM_018706.7(DHTKD1):c.2559C>G:p.Tyr853Ter	coding	Pathogenic
10	12120661	A	G	A12120661G	DHTKD1	NM_018706.7(DHTKD1):c.2659-126A>G	noncoding	Benign
10	13108909	T	C	T13108909C	OPTN	NM_001008212.2(OPTN):c.-11-203T>C	noncoding	Benign
10	13109354	A	G	A13109354G	OPTN	NM_001008212.2(OPTN):c.166+66A>G	noncoding	Benign
10	13110117	A	G	A13110117G	OPTN	NM_001008212.2(OPTN):c.167-157A>G	noncoding	Benign
10	13110124	C	T	C13110124T	OPTN	NM_001008212.2(OPTN):c.167-150C>T	noncoding	Benign
10	13110515	T	G	T13110515G	OPTN	NM_001008212.2(OPTN):c.369+39T>G	noncoding	Benign
10	13110574	T	C	T13110574C	OPTN	NM_001008212.2(OPTN):c.369+98T>C	noncoding	Benign
10	13110666	T	G	T13110666G	OPTN	NM_001008212.2(OPTN):c.369+190T>G	noncoding	Benign
10	13112519	C	T	C13112519T	OPTN	NM_001008212.2(OPTN):c.436C>T:p.Gln146Ter	coding	Pathogenic
10	13112530	G	A	G13112530A	OPTN	NM_001008212.2(OPTN):c.447G>A:p.Arg149=	coding	Benign/Likely_benign
10	13116279	G	T	G13116279T	OPTN	NM_001008212.2(OPTN):c.565G>T:p.Glu189Ter	coding	Pathogenic
10	13119038	A	T	A13119038T	OPTN	NM_001008212.2(OPTN):c.777A>T:p.Glu259Asp	coding	Benign
10	13119060	G	A	G13119060A	OPTN	NM_001008212.2(OPTN):c.779+20G>A	noncoding	Benign
10	13119164	A	C	A13119164C	OPTN	NM_001008212.2(OPTN):c.779+124A>C	noncoding	Benign
10	13119241	A	G	A13119241G	OPTN	NM_001008212.2(OPTN):c.779+201A>G	noncoding	Benign
10	13119314	G	T	G13119314T	OPTN	NM_001008212.2(OPTN):c.779+274G>T	noncoding	Benign
10	13122125	A	T	A13122125T	OPTN	NM_001008212.2(OPTN):c.780-260A>T	noncoding	Benign
10	13122331	A	G	A13122331G	OPTN	NM_001008212.2(OPTN):c.780-54A>G	noncoding	Benign
10	13122332	T	C	T13122332C	OPTN	NM_001008212.2(OPTN):c.780-53T>C	noncoding	Benign
10	13122390	C	A	C13122390A	OPTN	NM_001008212.2(OPTN):c.785C>A:p.Ser262Ter	coding	Pathogenic
10	13122481	G	A	G13122481A	OPTN	NM_001008212.2(OPTN):c.876G>A:p.Pro292=	coding	Benign
10	13122596	A	G	A13122596G	OPTN	NM_001008212.2(OPTN):c.882+109A>G	noncoding	Benign
10	13122683	G	T	G13122683T	OPTN	NM_001008212.2(OPTN):c.882+196G>T	noncoding	Benign
10	13124075	C	T	C13124075T	OPTN	NM_001008212.2(OPTN):c.963C>T:p.Ser321=	coding	Benign/Likely_benign
10	13124406	G	C	G13124406C	OPTN	NM_001008212.2(OPTN):c.998+296G>C	noncoding	Benign
10	13124429	T	G	T13124429G	OPTN	NM_001008212.2(OPTN):c.998+319T>G	noncoding	Benign
10	13125580	A	G	A13125580G	OPTN	NM_001008212.2(OPTN):c.1148+13A>G	noncoding	Benign
10	13125860	G	T	G13125860T	OPTN	NM_001008212.2(OPTN):c.1149-86G>T	noncoding	Benign
10	13126040	G	A	G13126040A	OPTN	NM_001008212.2(OPTN):c.1242+1G>A	coding	Pathogenic
10	13127512	T	G	T13127512G	OPTN	NM_001008212.2(OPTN):c.1243-233T>G	noncoding	Benign
10	13131814	A	G	A13131814G	OPTN	NM_001008212.2(OPTN):c.1402-253A>G	noncoding	Benign
10	13133515	G	C	G13133515C	OPTN	NM_001008212.2(OPTN):c.1546G>C:p.Glu516Gln	coding	Pathogenic
10	13133682	A	C	A13133682C	OPTN	NM_001008212.2(OPTN):c.1612+101A>C	noncoding	Benign
10	13175686	G	A	G13175686A	MCM10	NM_018518.5(MCM10):c.764+5G>A	noncoding	Pathogenic
10	13188941	C	T	C13188941T	MCM10	NM_018518.5(MCM10):c.1276C>T:p.Arg426Cys	coding	Pathogenic
10	13192567	C	T	C13192567T	MCM10	NM_018518.5(MCM10):c.1744C>T:p.Arg582Ter	coding	Pathogenic
10	13278411	A	T	A13278411T	PHYH	NM_006214.4(PHYH):c.964-57T>A	noncoding	Benign
10	13283946	C	T	C13283946T	PHYH	NM_006214.4(PHYH):c.679-107G>A	noncoding	Benign
10	13288291	G	T	G13288291T	PHYH	NM_006214.4(PHYH):c.678+69C>A	noncoding	Benign
10	13288345	G	A	G13288345A	PHYH	NM_006214.4(PHYH):c.678+15C>T	noncoding	Benign/Likely_benign
10	13291621	A	G	A13291621G	PHYH	NM_006214.4(PHYH):c.496+210T>C	noncoding	Benign
10	13292058	A	G	A13292058G	PHYH	NM_006214.4(PHYH):c.415-146T>C	noncoding	Benign
10	13292136	G	T	G13292136T	PHYH	NM_006214.4(PHYH):c.415-224C>A	noncoding	Benign
10	13294654	C	A	C13294654A	PHYH	NM_006214.4(PHYH):c.246-58G>T	noncoding	Benign
10	13295319	A	C	A13295319C	PHYH	NM_006214.4(PHYH):c.245+177T>G	noncoding	Benign
10	13295330	T	C	T13295330C	PHYH	NM_006214.4(PHYH):c.245+166A>G	noncoding	Benign
10	13298188	G	A	G13298188A	PHYH	NM_006214.4(PHYH):c.133C>T:p.Gln45Ter	coding	Pathogenic
10	13298293	A	G	A13298293G	PHYH	NM_006214.4(PHYH):c.76-48T>C	noncoding	Benign
10	13299731	A	G	A13299731G	PHYH	NM_006214.4(PHYH):c.75+237T>C	coding	Benign
10	13299809	T	G	T13299809G	PHYH	NM_006214.4(PHYH):c.75+159A>C	noncoding	Benign
10	13299836	G	C	G13299836C	PHYH	NM_006214.4(PHYH):c.75+132C>G	noncoding	Benign
10	13299889	C	G	C13299889G	PHYH	NM_006214.4(PHYH):c.75+79G>C	noncoding	Benign
10	13299900	A	G	A13299900G	PHYH	NM_006214.4(PHYH):c.75+68T>C	noncoding	Benign
10	13333906	T	C	T13333906C	SEPHS1	NM_012247.5(SEPHS1):c.471A>G:p.Thr157=	coding	Benign
10	13796604	A	G	A13796604G	FRMD4A	NM_018027.5(FRMD4A):c.207-16T>C	noncoding	Benign
10	14908944	C	A	C14908944A	DCLRE1C	NM_001033855.3(DCLRE1C):c.1543G>T:p.Gly515Ter	coding	Pathogenic
10	14908995	C	A	C14908995A	DCLRE1C	NM_001033855.3(DCLRE1C):c.1492G>T:p.Glu498Ter	coding	Pathogenic
10	14909020	C	T	C14909020T	DCLRE1C	NM_001033855.3(DCLRE1C):c.1467G>A:p.Trp489Ter	coding	Pathogenic
10	14909052	G	A	G14909052A	DCLRE1C	NM_001033855.3(DCLRE1C):c.1435C>T:p.Leu479=	coding	Benign
10	14909266	G	C	G14909266C	DCLRE1C	NM_001033855.3(DCLRE1C):c.1221C>G:p.Tyr407Ter	coding	Pathogenic
10	14919747	G	A	G14919747A	DCLRE1C	NM_001033855.3(DCLRE1C):c.1147C>T:p.Arg383Ter	coding	Pathogenic
10	14928117	A	T	A14928117T	DCLRE1C	NM_001033855.3(DCLRE1C):c.816T>A:p.Cys272Ter	coding	Pathogenic
10	14928132	C	T	C14928132T	DCLRE1C	NM_001033855.3(DCLRE1C):c.801G>A:p.Trp267Ter	coding	Pathogenic
10	14928169	G	C	G14928169C	DCLRE1C	NM_001033855.3(DCLRE1C):c.781-17C>G	noncoding	Benign
10	14934487	G	A	G14934487A	DCLRE1C	NM_001033855.3(DCLRE1C):c.571C>T:p.Arg191Ter	coding	Pathogenic
10	14934683	G	T	G14934683T	DCLRE1C	NM_001033855.3(DCLRE1C):c.537+20C>A	noncoding	Benign
10	14934689	C	T	C14934689T	DCLRE1C	NM_001033855.3(DCLRE1C):c.537+14G>A	noncoding	Benign/Likely_benign
10	14936554	A	G	A14936554G	DCLRE1C	NM_001033855.3(DCLRE1C):c.346T>C:p.Cys116Arg	coding	Pathogenic
10	14945171	G	T	G14945171T	DCLRE1C	NM_001033855.3(DCLRE1C):c.180C>A:p.Tyr60Ter	coding	Pathogenic
10	14948917	T	C	T14948917C	DCLRE1C	NM_001033855.3(DCLRE1C):c.161+119A>G	noncoding	Benign
10	14949034	A	C	A14949034C	DCLRE1C	NM_001033855.3(DCLRE1C):c.161+2T>G	noncoding	Pathogenic
10	14953726	C	T	C14953726T	DCLRE1C	NM_001033855.3(DCLRE1C):c.109+176G>A	noncoding	Benign
10	14953908	G	C	G14953908C	DCLRE1C	NM_001033855.3(DCLRE1C):c.103C>G:p.His35Asp	coding	Pathogenic/Likely_pathogenic
10	14953964	A	G	A14953964G	DCLRE1C	NM_001033855.3(DCLRE1C):c.47T>C:p.Ile16Thr	coding	Pathogenic
10	15531051	A	G	A15531051G	ITGA8	NM_003638.3(ITGA8):c.2981T>C:p.Val994Ala	coding	Benign
10	15531206	T	C	T15531206C	ITGA8	NM_003638.3(ITGA8):c.2881-55A>G	noncoding	Benign
10	15531338	G	C	G15531338C	ITGA8	NM_003638.3(ITGA8):c.2881-187C>G	noncoding	Benign
10	15531367	G	A	G15531367A	ITGA8	NM_003638.3(ITGA8):c.2881-216C>T	noncoding	Benign
10	15531371	C	G	C15531371G	ITGA8	NM_003638.3(ITGA8):c.2881-220G>C	noncoding	Benign
10	15531399	T	C	T15531399C	ITGA8	NM_003638.3(ITGA8):c.2881-248A>G	noncoding	Benign
10	15531415	T	C	T15531415C	ITGA8	NM_003638.3(ITGA8):c.2881-264A>G	noncoding	Benign
10	15548145	G	A	G15548145A	ITGA8	NM_003638.3(ITGA8):c.2880+310C>T	noncoding	Benign
10	15548353	A	G	A15548353G	ITGA8	NM_003638.3(ITGA8):c.2880+102T>C	noncoding	Benign
10	15548373	G	T	G15548373T	ITGA8	NM_003638.3(ITGA8):c.2880+82C>A	noncoding	Benign
10	15548408	C	T	C15548408T	ITGA8	NM_003638.3(ITGA8):c.2880+47G>A	noncoding	Benign
10	15548409	A	G	A15548409G	ITGA8	NM_003638.3(ITGA8):c.2880+46T>C	noncoding	Benign
10	15557993	T	G	T15557993G	ITGA8	NM_003638.3(ITGA8):c.2766+81A>C	noncoding	Benign
10	15558272	A	G	A15558272G	ITGA8	NM_003638.3(ITGA8):c.2638-70T>C	noncoding	Benign
10	15575152	G	A	G15575152A	ITGA8	NM_003638.3(ITGA8):c.2478+337C>T	noncoding	Benign
10	15597412	T	C	T15597412C	ITGA8	NM_003638.3(ITGA8):c.2119-113A>G	noncoding	Benign
10	15597546	A	G	A15597546G	ITGA8	NM_003638.3(ITGA8):c.2119-247T>C	noncoding	Benign
10	15597592	A	G	A15597592G	ITGA8	NM_003638.3(ITGA8):c.2119-293T>C	noncoding	Benign
10	15604541	C	G	C15604541G	ITGA8	NM_003638.3(ITGA8):c.1971-186G>C	noncoding	Benign
10	15604652	G	A	G15604652A	ITGA8	NM_003638.3(ITGA8):c.1971-297C>T	noncoding	Benign
10	15606105	G	A	G15606105A	ITGA8	NM_003638.3(ITGA8):c.1902+180C>T	noncoding	Benign
10	15606244	C	T	C15606244T	ITGA8	NM_003638.3(ITGA8):c.1902+41G>A	noncoding	Benign
10	15606649	C	T	C15606649T	ITGA8	NM_003638.3(ITGA8):c.1765-227G>A	noncoding	Benign
10	15607699	T	G	T15607699G	ITGA8	NM_003638.3(ITGA8):c.1742A>C:p.Gln581Pro	coding	Benign
10	15607711	G	A	G15607711A	ITGA8	NM_003638.3(ITGA8):c.1730C>T:p.Ser577Phe	coding	Benign
10	15608000	C	A	C15608000A	ITGA8	NM_003638.3(ITGA8):c.1610-169G>T	noncoding	Benign
10	15608187	C	G	C15608187G	ITGA8	NM_003638.3(ITGA8):c.1609+48G>C	noncoding	Benign
10	15608586	T	G	T15608586G	ITGA8	NM_003638.3(ITGA8):c.1554-296A>C	noncoding	Benign
10	15613399	A	G	A15613399G	ITGA8	NM_003638.3(ITGA8):c.1553+261T>C	noncoding	Benign
10	15613426	G	A	G15613426A	ITGA8	NM_003638.3(ITGA8):c.1553+234C>T	noncoding	Benign
10	15614042	A	G	A15614042G	ITGA8	NM_003638.3(ITGA8):c.1446-275T>C	noncoding	Benign
10	15616298	T	C	T15616298C	ITGA8	NM_003638.3(ITGA8):c.1445+216A>G	noncoding	Benign
10	15616570	C	T	C15616570T	ITGA8	NM_003638.3(ITGA8):c.1400-11G>A	noncoding	Benign
10	15616597	G	A	G15616597A	ITGA8	NM_003638.3(ITGA8):c.1400-38C>T	noncoding	Benign
10	15616660	T	C	T15616660C	ITGA8	NM_003638.3(ITGA8):c.1400-101A>G	noncoding	Benign
10	15616776	C	G	C15616776G	ITGA8	NM_003638.3(ITGA8):c.1400-217G>C	noncoding	Benign
10	15643984	A	T	A15643984T	ITGA8	NM_003638.3(ITGA8):c.1399+46T>A	noncoding	Benign
10	15655133	C	T	C15655133T	ITGA8	NM_003638.3(ITGA8):c.1001+221G>A	noncoding	Benign
10	15655197	A	G	A15655197G	ITGA8	NM_003638.3(ITGA8):c.1001+157T>C	noncoding	Benign
10	15655679	T	G	T15655679G	ITGA8	NM_003638.3(ITGA8):c.949-273A>C	noncoding	Benign
10	15658804	A	G	A15658804G	ITGA8	NM_003638.3(ITGA8):c.948+195T>C	noncoding	Benign
10	15658828	A	G	A15658828G	ITGA8	NM_003638.3(ITGA8):c.948+171T>C	noncoding	Benign
10	15659094	A	G	A15659094G	ITGA8	NM_003638.3(ITGA8):c.892-39T>C	noncoding	Benign
10	15659279	T	C	T15659279C	ITGA8	NM_003638.3(ITGA8):c.892-224A>G	noncoding	Benign
10	15660993	C	A	C15660993A	ITGA8	NM_003638.3(ITGA8):c.848-71G>T	noncoding	Benign
10	15671508	A	G	A15671508G	ITGA8	NM_003638.3(ITGA8):c.847+95T>C	noncoding	Benign
10	15671542	T	C	T15671542C	ITGA8	NM_003638.3(ITGA8):c.847+61A>G	noncoding	Benign
10	15671668	C	G	C15671668G	ITGA8	NM_003638.3(ITGA8):c.803-21G>C	noncoding	Benign
10	15671958	A	T	A15671958T	ITGA8	NM_003638.3(ITGA8):c.803-311T>A	noncoding	Benign
10	15672432	C	A	C15672432A	ITGA8	NM_003638.3(ITGA8):c.802+192G>T	noncoding	Benign
10	15672613	A	G	A15672613G	ITGA8	NM_003638.3(ITGA8):c.802+11T>C	noncoding	Benign
10	15677710	T	C	T15677710C	ITGA8	NM_003638.3(ITGA8):c.631-73A>G	noncoding	Benign
10	15677748	T	C	T15677748C	ITGA8	NM_003638.3(ITGA8):c.631-111A>G	noncoding	Benign
10	15678963	G	A	G15678963A	ITGA8	NM_003638.3(ITGA8):c.569-180C>T	noncoding	Benign
10	15683672	A	G	A15683672G	ITGA8	NM_003638.3(ITGA8):c.568+332T>C	noncoding	Benign
10	15683724	C	T	C15683724T	ITGA8	NM_003638.3(ITGA8):c.568+280G>A	noncoding	Benign
10	15687924	C	T	C15687924T	ITGA8	NM_003638.3(ITGA8):c.444+14G>A	noncoding	Benign
10	15718671	C	G	C15718671G	ITGA8	NM_003638.3(ITGA8):c.343+95G>C	noncoding	Benign
10	15719210	A	C	A15719210C	ITGA8	NM_003638.3(ITGA8):c.210-311T>G	noncoding	Benign
10	15719528	T	C	T15719528C	ITGA8	NM_003638.3(ITGA8):c.209+35A>G	noncoding	Benign
10	15719748	A	T	A15719748T	ITGA8	NM_003638.3(ITGA8):c.24T>A:p.Gly8=	coding	Benign
10	16828957	C	A	C16828957A	CUBN	NM_001081.4(CUBN):c.10612G>T:p.Glu3538Ter	coding	Pathogenic
10	16829322	T	G	T16829322G	CUBN	NM_001081.4(CUBN):c.10529-282A>C	noncoding	Benign
10	16829359	C	A	C16829359A	CUBN	NM_001081.4(CUBN):c.10529-319G>T	noncoding	Benign
10	16831318	G	A	G16831318A	CUBN	NM_001081.4(CUBN):c.10462C>T:p.Arg3488Ter	coding	Pathogenic
10	16831548	G	A	G16831548A	CUBN	NM_001081.4(CUBN):c.10363-131C>T	noncoding	Benign
10	16831700	G	C	G16831700C	CUBN	NM_001081.4(CUBN):c.10363-283C>G	noncoding	Benign
10	16831737	C	T	C16831737T	CUBN	NM_001081.4(CUBN):c.10363-320G>A	noncoding	Benign
10	16834821	G	A	G16834821A	CUBN	NM_001081.4(CUBN):c.10362+193C>T	noncoding	Benign
10	16834828	G	C	G16834828C	CUBN	NM_001081.4(CUBN):c.10362+186C>G	noncoding	Benign
10	16834923	A	G	A16834923G	CUBN	NM_001081.4(CUBN):c.10362+91T>C	noncoding	Benign
10	16835143	C	T	C16835143T	CUBN	NM_001081.4(CUBN):c.10233G>A:p.Trp3411Ter	coding	Pathogenic
10	16835211	G	T	G16835211T	CUBN	NM_001081.4(CUBN):c.10181-16C>A	noncoding	Benign
10	16835392	T	C	T16835392C	CUBN	NM_001081.4(CUBN):c.10181-197A>G	noncoding	Benign
10	16836205	T	C	T16836205C	CUBN	NM_001081.4(CUBN):c.10180+30A>G	noncoding	Benign
10	16836399	G	A	G16836399A	CUBN	NM_001081.4(CUBN):c.10033-17C>T	noncoding	Benign/Likely_benign
10	16869568	C	T	C16869568T	CUBN	NM_001081.4(CUBN):c.9454+68G>A	noncoding	Benign
10	16869606	C	A	C16869606A	CUBN	NM_001081.4(CUBN):c.9454+30G>T	noncoding	Benign
10	16870105	G	A	G16870105A	CUBN	NM_001081.4(CUBN):c.9237-252C>T	noncoding	Benign
10	16870135	G	A	G16870135A	CUBN	NM_001081.4(CUBN):c.9237-282C>T	noncoding	Benign
10	16870146	G	A	G16870146A	CUBN	NM_001081.4(CUBN):c.9237-293C>T	noncoding	Benign
10	16876705	C	A	C16876705A	CUBN	NM_001081.4(CUBN):c.9106+192G>T	noncoding	Benign
10	16877220	C	T	C16877220T	CUBN	NM_001081.4(CUBN):c.8906-123G>A	noncoding	Benign
10	16877224	A	G	A16877224G	CUBN	NM_001081.4(CUBN):c.8906-127T>C	noncoding	Benign
10	16877395	G	A	G16877395A	CUBN	NM_001081.4(CUBN):c.8906-298C>T	noncoding	Benign
10	16888363	T	C	T16888363C	CUBN	NM_001081.4(CUBN):c.8905+54A>G	noncoding	Benign
10	16888812	C	G	C16888812G	CUBN	NM_001081.4(CUBN):c.8756-246G>C	noncoding	Benign
10	16890197	A	T	A16890197T	CUBN	NM_001081.4(CUBN):c.8755+174T>A	noncoding	Benign
10	16890203	G	C	G16890203C	CUBN	NM_001081.4(CUBN):c.8755+168C>G	noncoding	Benign
10	16890705	A	G	A16890705G	CUBN	NM_001081.4(CUBN):c.8599-178T>C	noncoding	Benign
10	16898847	C	G	C16898847G	CUBN	NM_001081.4(CUBN):c.8598+149G>C	noncoding	Benign
10	16899131	C	T	C16899131T	CUBN	NM_001081.4(CUBN):c.8463G>A:p.Trp2821Ter	coding	Pathogenic
10	16899197	A	G	A16899197G	CUBN	NM_001081.4(CUBN):c.8411-14T>C	noncoding	Benign/Likely_benign
10	16903655	A	T	A16903655T	CUBN	NM_001081.4(CUBN):c.8062+311T>A	noncoding	Benign
10	16906178	A	G	A16906178G	CUBN	NM_001081.4(CUBN):c.7912+25T>C	noncoding	Benign
10	16906313	C	T	C16906313T	CUBN	NM_001081.4(CUBN):c.7802G>A:p.Trp2601Ter	coding	Pathogenic
10	16907402	G	A	G16907402A	CUBN	NM_001081.4(CUBN):c.7705+106C>T	noncoding	Benign
10	16907448	A	C	A16907448C	CUBN	NM_001081.4(CUBN):c.7705+60T>G	noncoding	Benign
10	16913617	G	T	G16913617T	CUBN	NM_001081.4(CUBN):c.7533+194C>A	noncoding	Benign
10	16914933	G	A	G16914933A	CUBN	NM_001081.4(CUBN):c.7351+99C>T	noncoding	Benign
10	16915980	C	A	C16915980A	CUBN	NM_001081.4(CUBN):c.7051G>T:p.Gly2351Ter	coding	Pathogenic
10	16919683	G	C	G16919683C	CUBN	NM_001081.4(CUBN):c.6821+280C>G	noncoding	Benign
10	16920353	A	G	A16920353G	CUBN	NM_001081.4(CUBN):c.6647-216T>C	noncoding	Benign
10	16924936	G	C	G16924936C	CUBN	NM_001081.4(CUBN):c.6646+305C>G	noncoding	Benign
10	16925087	C	T	C16925087T	CUBN	NM_001081.4(CUBN):c.6646+154G>A	noncoding	Benign
10	16925446	T	G	T16925446G	CUBN	NM_001081.4(CUBN):c.6463-22A>C	noncoding	Benign
10	16925565	G	C	G16925565C	CUBN	NM_001081.4(CUBN):c.6462+19C>G	noncoding	Benign
10	16926039	A	C	A16926039C	CUBN	NM_001081.4(CUBN):c.6272-265T>G	noncoding	Benign
10	16927924	A	C	A16927924C	CUBN	NM_001081.4(CUBN):c.6271+233T>G	noncoding	Benign
10	16933025	T	A	T16933025A	CUBN	NM_001081.4(CUBN):c.6124+62A>T	noncoding	Benign
10	16933123	G	A	G16933123A	CUBN	NM_001081.4(CUBN):c.6088C>T:p.Arg2030Ter	coding	Pathogenic
10	16937381	A	C	A16937381C	CUBN	NM_001081.4(CUBN):c.5926+211T>G	noncoding	Benign
10	16937382	A	T	A16937382T	CUBN	NM_001081.4(CUBN):c.5926+210T>A	noncoding	Benign
10	16937460	T	C	T16937460C	CUBN	NM_001081.4(CUBN):c.5926+132A>G	noncoding	Benign
10	16937567	G	T	G16937567T	CUBN	NM_001081.4(CUBN):c.5926+25C>A	noncoding	Benign
10	16937989	T	C	T16937989C	CUBN	NM_001081.4(CUBN):c.5734-205A>G	noncoding	Benign
10	16938671	G	A	G16938671A	CUBN	NM_001081.4(CUBN):c.5733+292C>T	noncoding	Benign
10	16938926	C	T	C16938926T	CUBN	NM_001081.4(CUBN):c.5733+37G>A	noncoding	Benign
10	16939248	T	G	T16939248G	CUBN	NM_001081.4(CUBN):c.5549-101A>C	noncoding	Benign
10	16947049	C	T	C16947049T	CUBN	NM_001081.4(CUBN):c.5342+186G>A	noncoding	Benign
10	16947428	T	C	T16947428C	CUBN	NM_001081.4(CUBN):c.5210-61A>G	noncoding	Benign
10	16947487	T	A	T16947487A	CUBN	NM_001081.4(CUBN):c.5210-120A>T	noncoding	Benign
10	16947581	T	G	T16947581G	CUBN	NM_001081.4(CUBN):c.5210-214A>C	noncoding	Benign
10	16948480	G	A	G16948480A	CUBN	NM_001081.4(CUBN):c.5207C>T:p.Ser1736Leu	coding	Benign/Likely_benign
10	16948870	A	G	A16948870G	CUBN	NM_001081.4(CUBN):c.5081-264T>C	noncoding	Benign
10	16948909	C	T	C16948909T	CUBN	NM_001081.4(CUBN):c.5081-303G>A	noncoding	Benign
10	16948938	C	T	C16948938T	CUBN	NM_001081.4(CUBN):c.5081-332G>A	noncoding	Benign
10	16949794	C	T	C16949794T	CUBN	NM_001081.4(CUBN):c.5080+207G>A	noncoding	Benign
10	16949795	G	T	G16949795T	CUBN	NM_001081.4(CUBN):c.5080+206C>A	noncoding	Benign
10	16949877	G	C	G16949877C	CUBN	NM_001081.4(CUBN):c.5080+124C>G	noncoding	Benign
10	16949984	A	G	A16949984G	CUBN	NM_001081.4(CUBN):c.5080+17T>C	noncoding	Benign/Likely_benign
10	16950133	T	G	T16950133G	CUBN	NM_001081.4(CUBN):c.4970-22A>C	noncoding	Benign
10	16952023	T	G	T16952023G	CUBN	NM_001081.4(CUBN):c.4969+253A>C	noncoding	Benign
10	16952048	C	A	C16952048A	CUBN	NM_001081.4(CUBN):c.4969+228G>T	noncoding	Benign
10	16954210	G	A	G16954210A	CUBN	NM_001081.4(CUBN):c.4855+179C>T	noncoding	Benign
10	16954564	C	A	C16954564A	CUBN	NM_001081.4(CUBN):c.4696-16G>T	noncoding	Benign
10	16954628	G	A	G16954628A	CUBN	NM_001081.4(CUBN):c.4696-80C>T	noncoding	Benign
10	16954685	C	T	C16954685T	CUBN	NM_001081.4(CUBN):c.4696-137G>A	noncoding	Benign
10	16982218	A	C	A16982218C	CUBN	NM_001081.4(CUBN):c.4695+266T>G	noncoding	Benign
10	16982376	A	T	A16982376T	CUBN	NM_001081.4(CUBN):c.4695+108T>A	noncoding	Benign
10	16982405	C	T	C16982405T	CUBN	NM_001081.4(CUBN):c.4695+79G>A	noncoding	Benign
10	16982442	G	A	G16982442A	CUBN	NM_001081.4(CUBN):c.4695+42C>T	noncoding	Benign
10	16982490	A	T	A16982490T	CUBN	NM_001081.4(CUBN):c.4689T>A:p.Cys1563Ter	coding	Pathogenic
10	16982850	A	G	A16982850G	CUBN	NM_001081.4(CUBN):c.4526-197T>C	noncoding	Benign
10	16982960	C	T	C16982960T	CUBN	NM_001081.4(CUBN):c.4526-307G>A	noncoding	Benign
10	16983829	C	T	C16983829T	CUBN	NM_001081.4(CUBN):c.4525+276G>A	noncoding	Benign
10	16984011	A	C	A16984011C	CUBN	NM_001081.4(CUBN):c.4525+94T>G	noncoding	Benign
10	16984385	A	G	A16984385G	CUBN	NM_001081.4(CUBN):c.4351-106T>C	noncoding	Benign
10	16984585	G	T	G16984585T	CUBN	NM_001081.4(CUBN):c.4351-306C>A	noncoding	Benign
10	16990282	C	T	C16990282T	CUBN	NM_001081.4(CUBN):c.4350+52G>A	noncoding	Benign
10	16990560	A	C	A16990560C	CUBN	NM_001081.4(CUBN):c.4169-45T>G	noncoding	Benign
10	16990562	A	G	A16990562G	CUBN	NM_001081.4(CUBN):c.4169-47T>C	noncoding	Benign
10	16990591	G	A	G16990591A	CUBN	NM_001081.4(CUBN):c.4169-76C>T	noncoding	Benign
10	17019682	A	G	A17019682G	CUBN	NM_001081.4(CUBN):c.4168+151T>C	noncoding	Benign
10	17020149	A	G	A17020149G	CUBN	NM_001081.4(CUBN):c.4018-166T>C	noncoding	Benign
10	17040801	T	C	T17040801C	CUBN	NM_001081.4(CUBN):c.4017+232A>G	noncoding	Benign
10	17041288	C	T	C17041288T	CUBN	NM_001081.4(CUBN):c.3830-68G>A	noncoding	Benign
10	17045424	A	G	A17045424G	CUBN	NM_001081.4(CUBN):c.3491-236T>C	noncoding	Benign
10	17046189	G	A	G17046189A	CUBN	NM_001081.4(CUBN):c.3330-95C>T	noncoding	Benign
10	17046273	A	G	A17046273G	CUBN	NM_001081.4(CUBN):c.3330-179T>C	noncoding	Benign
10	17046303	T	A	T17046303A	CUBN	NM_001081.4(CUBN):c.3330-209A>T	noncoding	Benign
10	17046490	T	A	T17046490A	CUBN	NM_001081.4(CUBN):c.3330-396A>T	noncoding	Benign
10	17046533	G	C	G17046533C	CUBN	NM_001081.4(CUBN):c.3330-439C>G	noncoding	Pathogenic/Likely_pathogenic
10	17065709	T	C	T17065709C	CUBN	NM_001081.4(CUBN):c.3009-71A>G	noncoding	Benign
10	17067989	A	G	A17067989G	CUBN	NM_001081.4(CUBN):c.3008+75T>C	noncoding	Benign
10	17068150	G	A	G17068150A	CUBN	NM_001081.4(CUBN):c.2922C>T:p.Phe974=	coding	Benign/Likely_benign
10	17068298	A	T	A17068298T	CUBN	NM_001081.4(CUBN):c.2792-18T>A	noncoding	Benign
10	17068719	T	C	T17068719C	CUBN	NM_001081.4(CUBN):c.2677A>G:p.Thr893Ala	coding	Benign
10	17068723	G	T	G17068723T	CUBN	NM_001081.4(CUBN):c.2673C>A:p.Cys891Ter	coding	Pathogenic
10	17069078	T	C	T17069078C	CUBN	NM_001081.4(CUBN):c.2626-308A>G	noncoding	Benign
10	17069079	G	A	G17069079A	CUBN	NM_001081.4(CUBN):c.2626-309C>T	noncoding	Benign
10	17084253	T	C	T17084253C	CUBN	NM_001081.4(CUBN):c.2301+18A>G	noncoding	Benign
10	17084667	A	G	A17084667G	CUBN	NM_001081.4(CUBN):c.2111-206T>C	noncoding	Benign
10	17085329	C	T	C17085329T	CUBN	NM_001081.4(CUBN):c.2110+268G>A	noncoding	Benign
10	17085362	T	C	T17085362C	CUBN	NM_001081.4(CUBN):c.2110+235A>G	noncoding	Benign
10	17085579	A	G	A17085579G	CUBN	NM_001081.4(CUBN):c.2110+18T>C	noncoding	Benign
10	17099953	C	A	C17099953A	CUBN	NM_001081.4(CUBN):c.1765+52G>T	noncoding	Benign
10	17100527	G	T	G17100527T	CUBN	NM_001081.4(CUBN):c.1531-288C>A	noncoding	Benign
10	17103113	T	G	T17103113G	CUBN	NM_001081.4(CUBN):c.1530+12A>C	noncoding	Benign/Likely_benign
10	17104251	T	G	T17104251G	CUBN	NM_001081.4(CUBN):c.1417+168A>C	noncoding	Benign
10	17104399	A	G	A17104399G	CUBN	NM_001081.4(CUBN):c.1417+20T>C	noncoding	Benign
10	17104653	C	A	C17104653A	CUBN	NM_001081.4(CUBN):c.1231-48G>T	noncoding	Benign
10	17104668	C	T	C17104668T	CUBN	NM_001081.4(CUBN):c.1231-63G>A	noncoding	Benign
10	17105802	G	A	G17105802A	CUBN	NM_001081.4(CUBN):c.1112-227C>T	noncoding	Benign
10	17110856	G	A	G17110856A	CUBN	NM_001081.4(CUBN):c.1015+63C>T	noncoding	Benign
10	17113842	C	T	C17113842T	CUBN	NM_001081.4(CUBN):c.883+185G>A	noncoding	Benign
10	17113886	G	A	G17113886A	CUBN	NM_001081.4(CUBN):c.883+141C>T	noncoding	Benign
10	17114114	C	A	C17114114A	CUBN	NM_001081.4(CUBN):c.796G>T:p.Glu266Ter	coding	Pathogenic
10	17115315	G	C	G17115315C	CUBN	NM_001081.4(CUBN):c.720+156C>G	noncoding	Benign
10	17115403	G	A	G17115403A	CUBN	NM_001081.4(CUBN):c.720+68C>T	noncoding	Benign
10	17115631	C	T	C17115631T	CUBN	NM_001081.4(CUBN):c.594-34G>A	noncoding	Benign
10	17122626	A	C	A17122626C	CUBN	NM_001081.4(CUBN):c.593+169T>G	noncoding	Benign
10	17123546	G	A	G17123546A	CUBN	NM_001081.4(CUBN):c.489+42C>T	noncoding	Benign
10	17123553	T	G	T17123553G	CUBN	NM_001081.4(CUBN):c.489+35A>C	noncoding	Benign
10	17123653	G	A	G17123653A	CUBN	NM_001081.4(CUBN):c.424C>T:p.Gln142Ter	coding	Pathogenic
10	17126616	T	C	T17126616C	CUBN	NM_001081.4(CUBN):c.387+145A>G	noncoding	Benign
10	17127062	T	C	T17127062C	CUBN	NM_001081.4(CUBN):c.349-263A>G	noncoding	Benign
10	17127078	A	G	A17127078G	CUBN	NM_001081.4(CUBN):c.349-279T>C	noncoding	Benign
10	17127812	G	A	G17127812A	CUBN	NM_001081.4(CUBN):c.348+17C>T	noncoding	Benign
10	17129266	G	C	G17129266C	CUBN	NM_001081.4(CUBN):c.123-16C>G	noncoding	Benign
10	17129496	C	A	C17129496A	CUBN	NM_001081.4(CUBN):c.122+148G>T	noncoding	Benign
10	17229111	G	C	G17229111C	VIM	NM_003380.5(VIM):c.-147-165G>C	noncoding	Benign
10	17229396	C	T	C17229396T	VIM	NM_003380.5(VIM):c.-27C>T	noncoding	Benign
10	17229401	G	C	G17229401C	VIM	NM_003380.5(VIM):c.-22G>C	noncoding	Benign
10	17230107	C	G	C17230107G	VIM	NM_003380.5(VIM):c.563+122C>G	noncoding	Benign
10	17230511	C	T	C17230511T	VIM	NM_003380.5(VIM):c.564-139C>T	noncoding	Benign
10	17233700	C	T	C17233700T	VIM	NM_003380.5(VIM):c.720+18C>T	noncoding	Benign/Likely_benign
10	17233856	G	T	G17233856T	VIM	NM_003380.5(VIM):c.807G>T:p.Leu269=	coding	Benign
10	17234067	C	T	C17234067T	VIM	NM_003380.5(VIM):c.882+136C>T	noncoding	Benign
10	17234406	C	T	C17234406T	VIM	NM_003380.5(VIM):c.883-287C>T	noncoding	Benign
10	17234836	A	G	A17234836G	VIM	NM_003380.5(VIM):c.1008+18A>G	noncoding	Benign
10	17234917	G	A	G17234917A	VIM	NM_003380.5(VIM):c.1008+99G>A	noncoding	Benign
10	17235478	C	G	C17235478G	VIM	NM_003380.5(VIM):c.1229+89C>G	noncoding	Benign
10	17235504	G	A	G17235504A	VIM	NM_003380.5(VIM):c.1229+115G>A	noncoding	Benign
10	17236172	C	G	C17236172G	VIM	NM_003380.5(VIM):c.1274-122C>G	noncoding	Benign
10	17237030	G	A	G17237030A	VIM	NM_003380.5(VIM):c.1360-200G>A	noncoding	Benign
10	17237518	C	T	C17237518T	VIM	NM_003380.5(VIM):c.*247C>T	noncoding	Benign
10	17237563	G	T	G17237563T	VIM	NM_003380.5(VIM):c.*292G>T	noncoding	Benign
10	17590447	C	A	C17590447A	HACD1	NM_014241.4(HACD1):c.785-1G>T	coding	Pathogenic
10	17590563	C	T	C17590563T	HACD1	NM_014241.4(HACD1):c.785-117G>A	noncoding	Benign
10	17594086	G	A	G17594086A	HACD1	NM_014241.4(HACD1):c.784+119C>T	noncoding	Benign
10	17594183	G	C	G17594183C	HACD1	NM_014241.4(HACD1):c.784+22C>G	noncoding	Benign
10	17594245	G	T	G17594245T	HACD1	NM_014241.4(HACD1):c.744C>A:p.Tyr248Ter	coding	Pathogenic
10	17594310	G	A	G17594310A	HACD1	NM_014241.4(HACD1):c.679C>T:p.His227Tyr	coding	Benign
10	17594513	C	T	C17594513T	HACD1	NM_014241.4(HACD1):c.606-130G>A	noncoding	Benign
10	17599535	A	G	A17599535G	HACD1	NM_014241.4(HACD1):c.484-124T>C	noncoding	Benign
10	17603585	C	T	C17603585T	HACD1	NM_014241.4(HACD1):c.458G>A:p.Trp153Ter	coding	Pathogenic
10	17603701	G	C	G17603701C	HACD1	NM_014241.4(HACD1):c.394+25C>G	noncoding	Benign
10	17603815	C	T	C17603815T	HACD1	NM_014241.4(HACD1):c.376-71G>A	noncoding	Benign
10	17604260	C	T	C17604260T	HACD1	NM_014241.4(HACD1):c.258-213G>A	noncoding	Benign
10	17616997	T	C	T17616997C	HACD1	NM_014241.4(HACD1):c.257+86A>G	noncoding	Benign
10	17617150	C	G	C17617150G	HACD1	NM_014241.4(HACD1):c.190G>C:p.Glu64Gln	coding	Benign
10	17617150	C	T	C17617150T	HACD1	NM_014241.4(HACD1):c.190G>A:p.Glu64Lys	coding	Benign
10	17617266	G	C	G17617266C	HACD1	NM_014241.4(HACD1):c.74C>G:p.Thr25Arg	coding	Benign
10	18140454	C	T	C18140454T	CACNB2	NM_201596.3(CACNB2):c.-283C>T	noncoding	Benign
10	18140679	G	A	G18140679A	CACNB2	NM_201596.3(CACNB2):c.-58G>A	noncoding	Benign
10	18140701	G	A	G18140701A	CACNB2	NM_201596.3(CACNB2):c.-36G>A	noncoding	Benign
10	18140861	C	A	C18140861A	CACNB2	NM_201596.3(CACNB2):c.120+5C>A	coding	Benign
10	18140981	C	T	C18140981T	CACNB2	NM_201596.3(CACNB2):c.120+125C>T	coding	Benign
10	18141037	G	C	G18141037C	CACNB2	NM_201596.3(CACNB2):c.120+181G>C	coding	Benign
10	18141052	C	G	C18141052G	CACNB2	NM_201596.3(CACNB2):c.120+196C>G	coding	Benign
10	18141143	C	T	C18141143T	CACNB2	NM_201596.3(CACNB2):c.120+287C>T	coding	Benign
10	18141194	T	C	T18141194C	CACNB2	NM_201596.3(CACNB2):c.120+338T>C	coding	Benign/Likely_benign
10	18141291	G	A	G18141291A	CACNB2	NM_201596.3(CACNB2):c.120+435G>A	noncoding	Benign
10	18150818	C	T	C18150818T	CACNB2	NM_201596.3(CACNB2):c.121-65C>T	noncoding	Benign
10	18150997	T	C	T18150997C	CACNB2	NM_201596.3(CACNB2):c.213+22T>C	noncoding	Benign
10	18260712	G	A	G18260712A	CACNB2	NM_201596.3(CACNB2):c.213+109737G>A	coding	Benign
10	18260842	G	T	G18260842T	CACNB2	NM_201596.3(CACNB2):c.213+109867G>T	coding	Benign
10	18260960	C	T	C18260960T	CACNB2	NM_201596.3(CACNB2):c.213+109985C>T	coding	Benign
10	18260962	A	G	A18260962G	CACNB2	NM_201596.3(CACNB2):c.213+109987A>G	coding	Benign
10	18261021	C	G	C18261021G	CACNB2	NM_201596.3(CACNB2):c.213+110046C>G	coding	Benign
10	18261104	C	T	C18261104T	CACNB2	NM_201596.3(CACNB2):c.213+110129C>T	coding	Benign
10	18261521	G	A	G18261521A	CACNB2	NM_201596.3(CACNB2):c.213+110546G>A	noncoding	Benign
10	18340673	C	A	C18340673A	CACNB2	NM_201596.3(CACNB2):c.214-61251C>A	noncoding	Benign/Likely_benign
10	18340674	G	A	G18340674A	CACNB2	NM_201596.3(CACNB2):c.214-61250G>A	noncoding	Benign/Likely_benign
10	18340914	G	C	G18340914C	CACNB2	NM_201596.3(CACNB2):c.214-61010G>C	coding	Benign
10	18400709	G	T	G18400709T	CACNB2	NM_201596.3(CACNB2):c.214-1215G>T	coding	Benign
10	18400746	G	C	G18400746C	CACNB2	NM_201596.3(CACNB2):c.214-1178G>C	coding	Benign
10	18400907	G	A	G18400907A	CACNB2	NM_201596.3(CACNB2):c.214-1017G>A	coding	Benign
10	18402089	G	A	G18402089A	CACNB2	NM_201596.3(CACNB2):c.333+46G>A	noncoding	Benign
10	18402224	G	A	G18402224A	CACNB2	NM_201596.3(CACNB2):c.333+181G>A	noncoding	Benign
10	18498266	T	C	T18498266C	CACNB2	NM_201596.3(CACNB2):c.334-89T>C	noncoding	Benign
10	18498363	C	T	C18498363T	CACNB2	NM_201596.3(CACNB2):c.342C>T:p.Pro114=	coding	Benign/Likely_benign
10	18500569	A	G	A18500569G	CACNB2	NM_201596.3(CACNB2):c.457-243A>G	noncoding	Benign
10	18506460	C	T	C18506460T	CACNB2	NM_201596.3(CACNB2):c.594-11C>T	noncoding	Benign/Likely_benign
10	18509390	T	C	T18509390C	CACNB2	NM_201596.3(CACNB2):c.670+2843T>C	noncoding	Benign
10	18514218	T	C	T18514218C	CACNB2	NM_201596.3(CACNB2):c.671-18T>C	noncoding	Benign
10	18514409	A	G	A18514409G	CACNB2	NM_201596.3(CACNB2):c.804+40A>G	noncoding	Benign
10	18515165	T	C	T18515165C	CACNB2	NM_201596.3(CACNB2):c.804+796T>C	noncoding	Benign
10	18518715	A	G	A18518715G	CACNB2	NM_201596.3(CACNB2):c.886-195A>G	noncoding	Benign
10	18518980	A	T	A18518980T	CACNB2	NM_201596.3(CACNB2):c.944+12A>T	noncoding	Benign/Likely_benign
10	18518988	G	A	G18518988A	CACNB2	NM_201596.3(CACNB2):c.944+20G>A	noncoding	Benign
10	18527715	G	A	G18527715A	CACNB2	NM_201596.3(CACNB2):c.1054+18G>A	noncoding	Benign
10	18534064	C	T	C18534064T	CACNB2	NM_201596.3(CACNB2):c.1055-12C>T	noncoding	Benign/Likely_benign
10	18534350	T	A	T18534350A	CACNB2	NM_201596.3(CACNB2):c.1206+123T>A	noncoding	Benign
10	18538045	T	C	T18538045C	CACNB2	NM_201596.3(CACNB2):c.1303-135T>C	noncoding	Benign
10	18538982	T	C	T18538982C	CACNB2	NM_201596.3(CACNB2):c.1489-248T>C	noncoding	Benign
10	18539221	C	T	C18539221T	CACNB2	NM_201596.3(CACNB2):c.1489-9C>T	noncoding	Benign/Likely_benign
10	18539391	C	T	C18539391T	CACNB2	NM_201596.3(CACNB2):c.1650C>T:p.Ser550=	coding	Benign/Likely_benign
10	18539490	C	G	C18539490G	CACNB2	NM_201596.3(CACNB2):c.1749C>G:p.Ala583=	coding	Benign/Likely_benign
10	18539628	A	G	A18539628G	CACNB2	NM_201596.3(CACNB2):c.1887A>G:p.Lys629=	coding	Benign
10	18539742	T	C	T18539742C	CACNB2	NM_201596.3(CACNB2):c.*18T>C	noncoding	Benign
10	18539800	T	C	T18539800C	CACNB2	NM_201596.3(CACNB2):c.*76T>C	noncoding	Benign
10	18539828	T	C	T18539828C	CACNB2	NM_201596.3(CACNB2):c.*104T>C	noncoding	Benign
10	20785526	T	C	T20785526C	NEBL	NM_006393.3(NEBL):c.*221A>G	noncoding	Benign
10	20785879	G	A	G20785879A	NEBL	NM_006393.3(NEBL):c.2913C>T:p.Asp971=	coding	Benign/Likely_benign
10	20787356	C	G	C20787356G	NEBL	NM_006393.3(NEBL):c.2762-48G>C	noncoding	Benign
10	20787604	C	T	C20787604T	NEBL	NM_006393.3(NEBL):c.2762-296G>A	noncoding	Benign
10	20813895	C	G	C20813895G	NEBL	NM_006393.3(NEBL):c.2346+44G>C	noncoding	Benign
10	20828515	G	C	G20828515C	NEBL	NM_006393.3(NEBL):c.1776+15C>G	noncoding	Benign/Likely_benign
10	20835355	T	A	T20835355A	NEBL	NM_006393.3(NEBL):c.1449+158A>T	noncoding	Benign
10	20835833	A	G	A20835833G	NEBL	NM_006393.3(NEBL):c.1339-210T>C	noncoding	Benign
10	20840805	T	C	T20840805C	NEBL	NM_006393.3(NEBL):c.1272A>G:p.Gly424=	coding	Benign/Likely_benign
10	20850378	C	G	C20850378G	NEBL	NM_006393.3(NEBL):c.1116+17G>C	noncoding	Benign
10	20852537	G	C	G20852537C	NEBL	NM_006393.3(NEBL):c.1008+8C>G	noncoding	Benign/Likely_benign
10	20858215	G	A	G20858215A	NEBL	NM_006393.3(NEBL):c.903+25C>T	noncoding	Benign
10	20858683	T	C	T20858683C	NEBL	NM_006393.3(NEBL):c.799-339A>G	noncoding	Benign
10	20859706	A	T	A20859706T	NEBL	NM_006393.3(NEBL):c.798+7T>A	noncoding	Benign
10	20880783	C	T	C20880783T	NEBL	NM_006393.3(NEBL):c.480+11G>A	noncoding	Benign/Likely_benign
10	20880881	A	G	A20880881G	NEBL	NM_006393.3(NEBL):c.393T>C:p.Asp131=	coding	Benign
10	20880994	T	G	T20880994G	NEBL	NM_006393.3(NEBL):c.370-90A>C	noncoding	Benign
10	20890019	A	T	A20890019T	NEBL	NM_006393.3(NEBL):c.154-70T>A	noncoding	Benign
10	20897179	T	G	T20897179G	NEBL	NM_006393.3(NEBL):c.27A>C:p.Ile9=	coding	Benign/Likely_benign
10	20897371	G	C	G20897371C	NEBL	NM_213569.2(NEBL):c.357+64301C>G	coding	Benign
10	20962010	G	A	G20962010A	NEBL	NM_213569.2(NEBL):c.250-231C>T	noncoding	Benign
10	21173940	C	A	C21173940A	NEBL	NM_213569.2(NEBL):c.-107G>T	noncoding	Benign
10	21515811	C	A	C21515811A	SKIDA1	NM_207371.4(SKIDA1):c.2012G>T:p.Cys671Phe	coding	Benign
10	22550154	G	A	G22550154A	PIP4K2A	NM_005028.5(PIP4K2A):c.792+505C>T	noncoding	Benign
10	23192288	A	G	A23192288G	PTF1A	Single_allele	noncoding	Benign
10	23193434	A	G	A23193434G	PTF1A	NM_178161.3(PTF1A):c.784+120A>G	noncoding	Benign
10	23194096	C	T	C23194096T	PTF1A	NM_178161.3(PTF1A):c.*190C>T	noncoding	Benign/Likely_benign
10	23219094	G	A	G23219094A	PTF1A	NM_001371909.1(C10orf67):c.1570+4504C>T	noncoding	Benign
10	23219800	C	T	C23219800T	PTF1A	NM_001371909.1(C10orf67):c.1570+3798G>A	noncoding	Benign
10	25412412	C	G	C25412412G	GPR158	NM_020752.3(GPR158):c.1274C>G:p.Ala425Gly	coding	Benign
10	25952527	G	A	G25952527A	MYO3A	NM_017433.5(MYO3A):c.168+249G>A	noncoding	Benign
10	25954674	G	T	G25954674T	MYO3A	NM_017433.5(MYO3A):c.169-200G>T	noncoding	Benign
10	25954781	A	C	A25954781C	MYO3A	NM_017433.5(MYO3A):c.169-93A>C	noncoding	Benign
10	25955160	T	A	T25955160A	MYO3A	NM_017433.5(MYO3A):c.303+152T>A	noncoding	Benign
10	25955167	G	T	G25955167T	MYO3A	NM_017433.5(MYO3A):c.303+159G>T	noncoding	Benign
10	25955217	A	G	A25955217G	MYO3A	NM_017433.5(MYO3A):c.303+209A>G	noncoding	Benign
10	25955295	T	A	T25955295A	MYO3A	NM_017433.5(MYO3A):c.303+287T>A	noncoding	Benign
10	25996319	A	G	A25996319G	MYO3A	NM_017433.5(MYO3A):c.304-171A>G	noncoding	Benign
10	25996358	A	C	A25996358C	MYO3A	NM_017433.5(MYO3A):c.304-132A>C	noncoding	Benign
10	25997438	G	A	G25997438A	MYO3A	NM_017433.5(MYO3A):c.508+180G>A	noncoding	Benign
10	25997494	C	T	C25997494T	MYO3A	NM_017433.5(MYO3A):c.508+236C>T	noncoding	Benign
10	26016804	T	C	T26016804C	MYO3A	NM_017433.5(MYO3A):c.509-16T>C	noncoding	Benign/Likely_benign
10	26021280	C	T	C26021280T	MYO3A	NM_017433.5(MYO3A):c.586-223C>T	noncoding	Benign
10	26021474	C	T	C26021474T	MYO3A	NM_017433.5(MYO3A):c.586-29C>T	noncoding	Benign
10	26021475	A	G	A26021475G	MYO3A	NM_017433.5(MYO3A):c.586-28A>G	noncoding	Benign
10	26021481	T	C	T26021481C	MYO3A	NM_017433.5(MYO3A):c.586-22T>C	noncoding	Benign
10	26021727	A	G	A26021727G	MYO3A	NM_017433.5(MYO3A):c.731+79A>G	noncoding	Benign
10	26021750	A	C	A26021750C	MYO3A	NM_017433.5(MYO3A):c.731+102A>C	noncoding	Benign
10	26023723	T	A	T26023723A	MYO3A	NM_017433.5(MYO3A):c.732-299T>A	noncoding	Benign
10	26023895	G	A	G26023895A	MYO3A	NM_017433.5(MYO3A):c.732-127G>A	noncoding	Benign
10	26026168	A	T	A26026168T	MYO3A	NM_017433.5(MYO3A):c.798-209A>T	noncoding	Benign
10	26026471	C	T	C26026471T	MYO3A	NM_017433.5(MYO3A):c.892C>T:p.Gln298Ter	coding	Pathogenic
10	26026795	G	A	G26026795A	MYO3A	NM_017433.5(MYO3A):c.953+263G>A	noncoding	Benign
10	26066750	A	G	A26066750G	MYO3A	NM_017433.5(MYO3A):c.954-225A>G	noncoding	Benign
10	26066792	T	C	T26066792C	MYO3A	NM_017433.5(MYO3A):c.954-183T>C	noncoding	Benign
10	26066805	A	G	A26066805G	MYO3A	NM_017433.5(MYO3A):c.954-170A>G	noncoding	Benign
10	26066842	C	A	C26066842A	MYO3A	NM_017433.5(MYO3A):c.954-133C>A	noncoding	Benign
10	26066933	G	T	G26066933T	MYO3A	NM_017433.5(MYO3A):c.954-42G>T	noncoding	Benign
10	26066943	A	G	A26066943G	MYO3A	NM_017433.5(MYO3A):c.954-32A>G	noncoding	Benign
10	26067050	A	G	A26067050G	MYO3A	NM_017433.5(MYO3A):c.1029A>G:p.Leu343=	coding	Benign/Likely_benign
10	26067108	C	T	C26067108T	MYO3A	NM_017433.5(MYO3A):c.1053+34C>T	noncoding	Benign
10	26067137	C	T	C26067137T	MYO3A	NM_017433.5(MYO3A):c.1053+63C>T	noncoding	Benign
10	26067265	A	T	A26067265T	MYO3A	NM_017433.5(MYO3A):c.1053+191A>T	noncoding	Benign
10	26067348	T	C	T26067348C	MYO3A	NM_017433.5(MYO3A):c.1053+274T>C	noncoding	Benign
10	26068469	G	C	G26068469C	MYO3A	NM_017433.5(MYO3A):c.1054-299G>C	noncoding	Benign
10	26068521	C	T	C26068521T	MYO3A	NM_017433.5(MYO3A):c.1054-247C>T	noncoding	Benign
10	26068630	G	A	G26068630A	MYO3A	NM_017433.5(MYO3A):c.1054-138G>A	noncoding	Benign
10	26068644	G	A	G26068644A	MYO3A	NM_017433.5(MYO3A):c.1054-124G>A	noncoding	Benign
10	26068696	T	C	T26068696C	MYO3A	NM_017433.5(MYO3A):c.1054-72T>C	noncoding	Benign
10	26069042	A	G	A26069042G	MYO3A	NM_017433.5(MYO3A):c.1170+158A>G	noncoding	Benign
10	26069072	G	C	G26069072C	MYO3A	NM_017433.5(MYO3A):c.1170+188G>C	noncoding	Benign
10	26069181	A	G	A26069181G	MYO3A	NM_017433.5(MYO3A):c.1170+297A>G	noncoding	Benign
10	26069212	G	T	G26069212T	MYO3A	NM_017433.5(MYO3A):c.1170+328G>T	noncoding	Benign
10	26069769	C	G	C26069769G	MYO3A	NM_017433.5(MYO3A):c.1171-342C>G	noncoding	Benign
10	26069943	T	C	T26069943C	MYO3A	NM_017433.5(MYO3A):c.1171-168T>C	noncoding	Benign
10	26069984	G	A	G26069984A	MYO3A	NM_017433.5(MYO3A):c.1171-127G>A	noncoding	Benign
10	26070251	T	G	T26070251G	MYO3A	NM_017433.5(MYO3A):c.1275+36T>G	noncoding	Benign
10	26070637	T	G	T26070637G	MYO3A	NM_017433.5(MYO3A):c.1359+236T>G	noncoding	Benign
10	26087950	A	G	A26087950G	MYO3A	NM_017433.5(MYO3A):c.1360-253A>G	noncoding	Benign
10	26120907	C	A	C26120907A	MYO3A	NM_017433.5(MYO3A):c.1903+105C>A	noncoding	Benign
10	26121102	A	G	A26121102G	MYO3A	NM_017433.5(MYO3A):c.1903+300A>G	noncoding	Benign
10	26125177	A	T	A26125177T	MYO3A	NM_017433.5(MYO3A):c.1904-221A>T	noncoding	Benign
10	26128602	T	G	T26128602G	MYO3A	NM_017433.5(MYO3A):c.2262+64T>G	noncoding	Benign
10	26145721	C	T	C26145721T	MYO3A	NM_017433.5(MYO3A):c.2505+187C>T	noncoding	Benign
10	26147358	G	T	G26147358T	MYO3A	NM_017433.5(MYO3A):c.2506-72G>T	noncoding	Benign
10	26154460	A	T	A26154460T	MYO3A	NM_017433.5(MYO3A):c.2716-286A>T	noncoding	Benign
10	26154696	A	C	A26154696C	MYO3A	NM_017433.5(MYO3A):c.2716-50A>C	noncoding	Benign
10	26154717	G	A	G26154717A	MYO3A	NM_017433.5(MYO3A):c.2716-29G>A	noncoding	Benign
10	26157105	T	A	T26157105A	MYO3A	NM_017433.5(MYO3A):c.2794-205T>A	noncoding	Benign
10	26157252	C	T	C26157252T	MYO3A	NM_017433.5(MYO3A):c.2794-58C>T	noncoding	Benign
10	26157740	G	A	G26157740A	MYO3A	NM_017433.5(MYO3A):c.2999+225G>A	noncoding	Benign
10	26166091	G	A	G26166091A	MYO3A	NM_017433.5(MYO3A):c.3024G>A:p.Ser1008=	coding	Benign
10	26168607	C	T	C26168607T	MYO3A	NM_017433.5(MYO3A):c.3112-105C>T	noncoding	Benign
10	26168656	A	G	A26168656G	MYO3A	NM_017433.5(MYO3A):c.3112-56A>G	noncoding	Benign
10	26169132	A	C	A26169132C	MYO3A	NM_017433.5(MYO3A):c.3274+258A>C	noncoding	Benign
10	26170673	C	G	C26170673G	MYO3A	NM_017433.5(MYO3A):c.3398+134C>G	noncoding	Benign
10	26170769	T	C	T26170769C	MYO3A	NM_017433.5(MYO3A):c.3398+230T>C	noncoding	Benign
10	26170784	C	T	C26170784T	MYO3A	NM_017433.5(MYO3A):c.3398+245C>T	noncoding	Benign
10	26170859	T	G	T26170859G	MYO3A	NM_017433.5(MYO3A):c.3398+320T>G	noncoding	Benign
10	26173534	T	A	T26173534A	MYO3A	NM_017433.5(MYO3A):c.3399-129T>A	noncoding	Benign
10	26173628	G	A	G26173628A	MYO3A	NM_017433.5(MYO3A):c.3399-35G>A	noncoding	Benign
10	26174640	G	A	G26174640A	MYO3A	NM_017433.5(MYO3A):c.4293+83G>A	noncoding	Benign
10	26174658	C	G	C26174658G	MYO3A	NM_017433.5(MYO3A):c.4293+101C>G	noncoding	Benign
10	26174671	G	A	G26174671A	MYO3A	NM_017433.5(MYO3A):c.4293+114G>A	noncoding	Benign
10	26176497	G	A	G26176497A	MYO3A	NM_017433.5(MYO3A):c.4294-204G>A	noncoding	Benign
10	26176555	A	G	A26176555G	MYO3A	NM_017433.5(MYO3A):c.4294-146A>G	noncoding	Benign
10	26176705	C	G	C26176705G	MYO3A	NM_017433.5(MYO3A):c.4298C>G:p.Ser1433Ter	coding	Pathogenic
10	26177005	G	T	G26177005T	MYO3A	NM_017433.5(MYO3A):c.4438+160G>T	noncoding	Benign
10	26177120	T	G	T26177120G	MYO3A	NM_017433.5(MYO3A):c.4438+275T>G	noncoding	Benign
10	26201170	G	A	G26201170A	MYO3A	NM_017433.5(MYO3A):c.4546-95G>A	noncoding	Benign
10	26202829	C	A	C26202829A	MYO3A	NM_017433.5(MYO3A):c.4587-135C>A	noncoding	Benign
10	26202963	G	A	G26202963A	MYO3A	NM_017433.5(MYO3A):c.4587-1G>A	noncoding	Pathogenic
10	26211729	A	G	A26211729G	MYO3A	NM_017433.5(MYO3A):c.4731-114A>G	noncoding	Benign
10	26212209	C	T	C26212209T	MYO3A	NM_017433.5(MYO3A):c.*246C>T	noncoding	Benign/Likely_benign
10	26697393	C	G	C26697393G	PDSS1	Single_allele	noncoding	Benign
10	26697394	T	C	T26697394C	PDSS1	Single_allele	noncoding	Benign
10	26697449	T	C	T26697449C	PDSS1	Single_allele	noncoding	Benign
10	26704796	G	A	G26704796A	PDSS1	NM_014317.5(PDSS1):c.227+55G>A	noncoding	Benign
10	26704808	A	T	A26704808T	PDSS1	NM_014317.5(PDSS1):c.227+67A>T	noncoding	Benign
10	26704809	T	A	T26704809A	PDSS1	NM_014317.5(PDSS1):c.227+68T>A	noncoding	Benign
10	26704910	T	C	T26704910C	PDSS1	NM_014317.5(PDSS1):c.227+169T>C	noncoding	Benign
10	26705221	A	C	A26705221C	PDSS1	NM_014317.5(PDSS1):c.228-65A>C	noncoding	Benign
10	26705416	G	A	G26705416A	PDSS1	NM_014317.5(PDSS1):c.336+22G>A	noncoding	Benign
10	26709712	A	G	A26709712G	PDSS1	NM_014317.5(PDSS1):c.411A>G:p.Arg137=	coding	Benign/Likely_benign
10	26709810	G	C	G26709810C	PDSS1	NM_014317.5(PDSS1):c.467+42G>C	noncoding	Benign
10	26720405	A	G	A26720405G	PDSS1	NM_014317.5(PDSS1):c.609+46A>G	noncoding	Benign
10	26723489	C	T	C26723489T	PDSS1	NM_014317.5(PDSS1):c.610-317C>T	noncoding	Benign
10	26723511	G	A	G26723511A	PDSS1	NM_014317.5(PDSS1):c.610-295G>A	noncoding	Benign
10	26724326	G	A	G26724326A	PDSS1	NM_014317.5(PDSS1):c.831+203G>A	noncoding	Benign
10	26742486	T	C	T26742486C	PDSS1	NM_014317.5(PDSS1):c.1027-11T>C	noncoding	Benign/Likely_benign
10	26742502	A	G	A26742502G	PDSS1	NM_014317.5(PDSS1):c.1032A>G:p.Pro344=	coding	Benign
10	26742619	C	T	C26742619T	PDSS1	NM_014317.5(PDSS1):c.1107+42C>T	noncoding	Benign
10	26742745	A	G	A26742745G	PDSS1	NM_014317.5(PDSS1):c.1107+168A>G	noncoding	Benign
10	27017563	A	G	A27017563G	ANKRD26	NM_014915.3(ANKRD26):c.4445T>C:p.Ile1482Thr	coding	Benign/Likely_benign
10	27024315	C	A	C27024315A	ANKRD26	NM_014915.3(ANKRD26):c.4085+132G>T	noncoding	Benign
10	27024738	C	T	C27024738T	ANKRD26	NM_014915.3(ANKRD26):c.3973-179G>A	noncoding	Benign
10	27029441	C	T	C27029441T	ANKRD26	NM_014915.3(ANKRD26):c.3808-85G>A	noncoding	Benign
10	27029442	G	A	G27029442A	ANKRD26	NM_014915.3(ANKRD26):c.3808-86C>T	noncoding	Benign
10	27033089	A	G	A27033089G	ANKRD26	NM_014915.3(ANKRD26):c.3807+136T>C	noncoding	Benign
10	27033462	C	T	C27033462T	ANKRD26	NM_014915.3(ANKRD26):c.3655-85G>A	noncoding	Benign
10	27034717	T	C	T27034717C	ANKRD26	NM_014915.3(ANKRD26):c.3654+79A>G	noncoding	Benign
10	27035852	G	C	G27035852C	ANKRD26	NM_014915.3(ANKRD26):c.2698-100C>G	noncoding	Benign
10	27036882	G	A	G27036882A	ANKRD26	NM_014915.3(ANKRD26):c.2697+304C>T	noncoding	Benign
10	27037085	C	T	C27037085T	ANKRD26	NM_014915.3(ANKRD26):c.2697+101G>A	noncoding	Benign
10	27037088	C	T	C27037088T	ANKRD26	NM_014915.3(ANKRD26):c.2697+98G>A	noncoding	Benign
10	27037782	C	A	C27037782A	ANKRD26	NM_014915.3(ANKRD26):c.2559+89G>T	noncoding	Benign
10	27039739	C	A	C27039739A	ANKRD26	NM_014915.3(ANKRD26):c.2375+226G>T	noncoding	Benign
10	27039984	G	A	G27039984A	ANKRD26	NM_014915.3(ANKRD26):c.2356C>T:p.Arg786Ter	coding	Pathogenic
10	27040238	G	A	G27040238A	ANKRD26	NM_014915.3(ANKRD26):c.2162-60C>T	noncoding	Benign
10	27044355	T	C	T27044355C	ANKRD26	NM_014915.3(ANKRD26):c.1986-165A>G	noncoding	Benign
10	27046117	C	T	C27046117T	ANKRD26	NM_014915.3(ANKRD26):c.1985+236G>A	noncoding	Benign
10	27046186	T	C	T27046186C	ANKRD26	NM_014915.3(ANKRD26):c.1985+167A>G	noncoding	Benign
10	27060272	T	C	T27060272C	ANKRD26	NM_014915.3(ANKRD26):c.1564+73A>G	noncoding	Benign
10	27060320	A	G	A27060320G	ANKRD26	NM_014915.3(ANKRD26):c.1564+25T>C	noncoding	Benign
10	27060438	A	C	A27060438C	ANKRD26	NM_014915.3(ANKRD26):c.1492-21T>G	noncoding	Benign
10	27060633	C	T	C27060633T	ANKRD26	NM_014915.3(ANKRD26):c.1463-93G>A	noncoding	Benign
10	27060771	A	G	A27060771G	ANKRD26	NM_014915.3(ANKRD26):c.1463-231T>C	noncoding	Benign
10	27061272	T	C	T27061272C	ANKRD26	NM_014915.3(ANKRD26):c.1364-30A>G	noncoding	Benign
10	27061362	A	T	A27061362T	ANKRD26	NM_014915.3(ANKRD26):c.1364-120T>A	noncoding	Benign
10	27064321	A	G	A27064321G	ANKRD26	NM_014915.3(ANKRD26):c.1270-240T>C	noncoding	Benign
10	27064364	C	T	C27064364T	ANKRD26	NM_014915.3(ANKRD26):c.1270-283G>A	noncoding	Benign
10	27066811	T	A	T27066811A	ANKRD26	NM_014915.3(ANKRD26):c.1208-263A>T	noncoding	Benign
10	27079197	A	C	A27079197C	ANKRD26	NM_014915.3(ANKRD26):c.741-36T>G	noncoding	Benign
10	27079396	G	A	G27079396A	ANKRD26	NM_014915.3(ANKRD26):c.741-235C>T	noncoding	Benign
10	27079458	G	C	G27079458C	ANKRD26	NM_014915.3(ANKRD26):c.741-297C>G	noncoding	Benign
10	27082508	A	G	A27082508G	ANKRD26	NM_014915.3(ANKRD26):c.740+295T>C	noncoding	Benign
10	27082534	C	T	C27082534T	ANKRD26	NM_014915.3(ANKRD26):c.740+269G>A	noncoding	Benign
10	27082694	G	A	G27082694A	ANKRD26	NM_014915.3(ANKRD26):c.740+109C>T	noncoding	Benign
10	27082718	T	C	T27082718C	ANKRD26	NM_014915.3(ANKRD26):c.740+85A>G	noncoding	Benign
10	27082721	T	C	T27082721C	ANKRD26	NM_014915.3(ANKRD26):c.740+82A>G	noncoding	Benign
10	27086361	T	C	T27086361C	ANKRD26	NM_014915.3(ANKRD26):c.709+178A>G	noncoding	Benign
10	27086439	C	G	C27086439G	ANKRD26	NM_014915.3(ANKRD26):c.709+100G>C	noncoding	Benign
10	27086448	A	T	A27086448T	ANKRD26	NM_014915.3(ANKRD26):c.709+91T>A	noncoding	Benign
10	27086482	T	C	T27086482C	ANKRD26	NM_014915.3(ANKRD26):c.709+57A>G	noncoding	Benign
10	27086630	C	T	C27086630T	ANKRD26	NM_014915.3(ANKRD26):c.639-21G>A	noncoding	Benign
10	27086672	T	A	T27086672A	ANKRD26	NM_014915.3(ANKRD26):c.639-63A>T	noncoding	Benign
10	27086697	A	G	A27086697G	ANKRD26	NM_014915.3(ANKRD26):c.639-88T>C	noncoding	Benign
10	27093276	T	A	T27093276A	ANKRD26	NM_014915.3(ANKRD26):c.531+73A>T	noncoding	Benign
10	27093307	C	T	C27093307T	ANKRD26	NM_014915.3(ANKRD26):c.531+42G>A	noncoding	Benign
10	27093308	G	A	G27093308A	ANKRD26	NM_014915.3(ANKRD26):c.531+41C>T	noncoding	Benign/Likely_benign
10	27093311	T	C	T27093311C	ANKRD26	NM_014915.3(ANKRD26):c.531+38A>G	noncoding	Benign
10	27093590	C	T	C27093590T	ANKRD26	NM_014915.3(ANKRD26):c.358-68G>A	noncoding	Benign
10	27093599	G	A	G27093599A	ANKRD26	NM_014915.3(ANKRD26):c.358-77C>T	noncoding	Benign
10	27093657	G	C	G27093657C	ANKRD26	NM_014915.3(ANKRD26):c.357+28C>G	noncoding	Benign
10	27093875	C	T	C27093875T	ANKRD26	NM_014915.3(ANKRD26):c.243-76G>A	noncoding	Benign
10	27100444	G	A	G27100444A	ANKRD26	NM_014915.3(ANKRD26):c.-118C>T	noncoding	Pathogenic/Likely_pathogenic
10	27100460	C	T	C27100460T	ANKRD26	NM_014915.3(ANKRD26):c.-134G>A	noncoding	Pathogenic/Likely_pathogenic
10	27100555	T	G	T27100555G	ANKRD26	Single_allele	noncoding	Benign
10	27100568	A	G	A27100568G	ANKRD26	Single_allele	noncoding	Benign
10	27100619	C	T	C27100619T	ANKRD26	Single_allele	noncoding	Benign
10	27111932	G	A	G27111932A	YME1L1	NM_014263.4(YME1L1):c.*45C>T	noncoding	Benign
10	27112127	C	T	C27112127T	YME1L1	NM_014263.4(YME1L1):c.2008-7G>A	noncoding	Benign
10	27112157	T	C	T27112157C	YME1L1	NM_014263.4(YME1L1):c.2008-37A>G	noncoding	Benign
10	27114329	T	A	T27114329A	YME1L1	NM_014263.4(YME1L1):c.2007+192A>T	noncoding	Benign
10	27114706	T	C	T27114706C	YME1L1	NM_014263.4(YME1L1):c.1921-99A>G	noncoding	Benign
10	27115998	G	T	G27115998T	YME1L1	NM_014263.4(YME1L1):c.1920+62C>A	noncoding	Benign
10	27116167	A	G	A27116167G	YME1L1	NM_014263.4(YME1L1):c.1847-34T>C	noncoding	Benign
10	27116381	C	G	C27116381G	YME1L1	NM_014263.4(YME1L1):c.1720-36G>C	noncoding	Benign
10	27120626	G	A	G27120626A	YME1L1	NM_014263.4(YME1L1):c.1299-79C>T	noncoding	Benign
10	27120703	G	A	G27120703A	YME1L1	NM_014263.4(YME1L1):c.1299-156C>T	noncoding	Benign
10	27121309	C	A	C27121309A	YME1L1	NM_014263.4(YME1L1):c.1298+77G>T	noncoding	Benign
10	27123740	A	T	A27123740T	YME1L1	NM_014263.4(YME1L1):c.950-41T>A	noncoding	Benign
10	27126977	C	A	C27126977A	YME1L1	NM_014263.4(YME1L1):c.859-191G>T	noncoding	Benign
10	27134815	T	C	T27134815C	YME1L1	NM_014263.4(YME1L1):c.691+16A>G	noncoding	Benign
10	27134997	A	G	A27134997G	YME1L1	NM_014263.4(YME1L1):c.541-16T>C	noncoding	Benign
10	27135091	C	T	C27135091T	YME1L1	NM_014263.4(YME1L1):c.541-110G>A	noncoding	Benign
10	27136051	C	T	C27136051T	YME1L1	NM_014263.4(YME1L1):c.540+225G>A	noncoding	Benign
10	27136092	G	A	G27136092A	YME1L1	NM_014263.4(YME1L1):c.540+184C>T	noncoding	Benign
10	27136513	G	A	G27136513A	YME1L1	NM_014263.4(YME1L1):c.431-128C>T	noncoding	Benign
10	27142359	T	C	T27142359C	YME1L1	NM_014263.4(YME1L1):c.430+28A>G	noncoding	Benign
10	27142635	G	A	G27142635A	YME1L1	NM_014263.4(YME1L1):c.332-150C>T	noncoding	Benign
10	27142649	G	A	G27142649A	YME1L1	NM_014263.4(YME1L1):c.332-164C>T	noncoding	Benign
10	27145300	A	C	A27145300C	YME1L1	NM_014263.4(YME1L1):c.331+128T>G	noncoding	Benign
10	27145301	C	A	C27145301A	YME1L1	NM_014263.4(YME1L1):c.331+127G>T	noncoding	Benign
10	27145554	G	A	G27145554A	YME1L1	NM_014263.4(YME1L1):c.205C>T:p.Leu69=	coding	Benign
10	27145745	C	T	C27145745T	YME1L1	NM_014263.4(YME1L1):c.169-155G>A	noncoding	Benign
10	27145787	A	C	A27145787C	YME1L1	NM_014263.4(YME1L1):c.169-197T>G	noncoding	Benign
10	27147366	A	C	A27147366C	YME1L1	NM_014263.4(YME1L1):c.168+1540T>G	noncoding	Benign
10	27147637	T	C	T27147637C	YME1L1	NM_014263.4(YME1L1):c.168+1269A>G	coding	Benign
10	27147737	C	T	C27147737T	YME1L1	NM_014263.4(YME1L1):c.168+1169G>A	noncoding	Benign
10	27149035	T	C	T27149035C	YME1L1	NM_014263.4(YME1L1):c.39A>G:p.Thr13=	coding	Benign
10	27149065	C	T	C27149065T	YME1L1	NM_014263.4(YME1L1):c.34-25G>A	noncoding	Benign
10	27154083	A	G	A27154083G	YME1L1	NM_014263.4(YME1L1):c.33+95T>C	noncoding	Benign
10	27154143	G	A	G27154143A	YME1L1	NM_014263.4(YME1L1):c.33+35C>T	noncoding	Benign
10	27154154	A	T	A27154154T	YME1L1	NM_014263.4(YME1L1):c.33+24T>A	noncoding	Benign
10	27154694	C	G	C27154694G	MASTL	Single_allele	noncoding	Benign
10	27154946	C	T	C27154946T	MASTL	NM_032844.4(MASTL):c.-481C>T	noncoding	Benign/Likely_benign
10	27155228	G	C	G27155228C	MASTL	NM_032844.4(MASTL):c.-199G>C	noncoding	Benign/Likely_benign
10	27155777	A	T	A27155777T	MASTL	NM_001172303.3(MASTL):c.186+165A>T	noncoding	Benign
10	27155834	C	A	C27155834A	MASTL	NM_001172303.3(MASTL):c.186+222C>A	noncoding	Benign
10	27158836	G	A	G27158836A	MASTL	NM_001172303.3(MASTL):c.324+150G>A	noncoding	Benign
10	27169639	A	C	A27169639C	MASTL	NM_001172303.3(MASTL):c.985-305A>C	noncoding	Benign
10	27169750	C	T	C27169750T	MASTL	NM_001172303.3(MASTL):c.985-194C>T	noncoding	Benign
10	27171373	A	G	A27171373G	MASTL	NM_001172303.3(MASTL):c.2124+290A>G	noncoding	Benign
10	27173024	T	A	T27173024A	MASTL	NM_001172303.3(MASTL):c.2125-94T>A	noncoding	Benign
10	27197629	C	G	C27197629G	ACBD5	NM_145698.5(ACBD5):c.1566-187G>C	noncoding	Benign
10	27204232	A	G	A27204232G	ACBD5	NM_145698.5(ACBD5):c.1565+208T>C	noncoding	Benign
10	27204275	A	G	A27204275G	ACBD5	NM_145698.5(ACBD5):c.1565+165T>C	noncoding	Benign
10	27204719	G	A	G27204719A	ACBD5	NM_145698.5(ACBD5):c.1456-170C>T	noncoding	Benign
10	27204763	T	G	T27204763G	ACBD5	NM_145698.5(ACBD5):c.1456-214A>C	noncoding	Benign
10	27204852	G	A	G27204852A	ACBD5	NM_145698.5(ACBD5):c.1456-303C>T	noncoding	Benign
10	27208145	C	T	C27208145T	ACBD5	NM_145698.5(ACBD5):c.1404+101G>A	noncoding	Benign
10	27208262	G	A	G27208262A	ACBD5	NM_145698.5(ACBD5):c.1388C>T:p.Thr463Met	coding	Benign
10	27208423	G	A	G27208423A	ACBD5	NM_145698.5(ACBD5):c.1227C>T:p.Ser409=	coding	Benign
10	27208556	G	A	G27208556A	ACBD5	NM_145698.5(ACBD5):c.1205-111C>T	noncoding	Benign
10	27210780	A	G	A27210780G	ACBD5	NM_145698.5(ACBD5):c.1204+34T>C	noncoding	Benign
10	27210842	G	A	G27210842A	ACBD5	NM_145698.5(ACBD5):c.1176C>T:p.Asp392=	coding	Benign
10	27210875	T	C	T27210875C	ACBD5	NM_145698.5(ACBD5):c.1143A>G:p.Ala381=	coding	Benign
10	27211050	G	T	G27211050T	ACBD5	NM_145698.5(ACBD5):c.968C>A:p.Pro323Gln	coding	Benign
10	27215406	T	C	T27215406C	ACBD5	NM_145698.5(ACBD5):c.936+129A>G	noncoding	Benign
10	27215730	T	C	T27215730C	ACBD5	NM_145698.5(ACBD5):c.830-89A>G	noncoding	Benign
10	27215752	T	C	T27215752C	ACBD5	NM_145698.5(ACBD5):c.830-111A>G	noncoding	Benign
10	27215807	C	T	C27215807T	ACBD5	NM_145698.5(ACBD5):c.830-166G>A	noncoding	Benign
10	27217844	T	C	T27217844C	ACBD5	NM_145698.5(ACBD5):c.829+136A>G	noncoding	Benign
10	27217925	C	T	C27217925T	ACBD5	NM_145698.5(ACBD5):c.829+55G>A	noncoding	Benign
10	27218032	G	A	G27218032A	ACBD5	NM_145698.5(ACBD5):c.777C>T:p.Pro259=	coding	Benign
10	27218190	C	T	C27218190T	ACBD5	NM_145698.5(ACBD5):c.626-7G>A	noncoding	Benign
10	27218213	A	G	A27218213G	ACBD5	NM_145698.5(ACBD5):c.626-30T>C	noncoding	Benign
10	27218351	C	T	C27218351T	ACBD5	NM_145698.5(ACBD5):c.626-168G>A	noncoding	Benign
10	27218371	T	C	T27218371C	ACBD5	NM_145698.5(ACBD5):c.626-188A>G	noncoding	Benign
10	27219431	G	A	G27219431A	ACBD5	NM_145698.5(ACBD5):c.625+292C>T	noncoding	Benign
10	27219440	T	C	T27219440C	ACBD5	NM_145698.5(ACBD5):c.625+283A>G	noncoding	Benign
10	27219460	A	G	A27219460G	ACBD5	NM_145698.5(ACBD5):c.625+263T>C	noncoding	Benign
10	27219671	A	G	A27219671G	ACBD5	NM_145698.5(ACBD5):c.625+52T>C	noncoding	Benign
10	27219692	C	T	C27219692T	ACBD5	NM_145698.5(ACBD5):c.625+31G>A	noncoding	Benign
10	27219780	C	T	C27219780T	ACBD5	NM_145698.5(ACBD5):c.568G>A:p.Glu190Lys	coding	Benign
10	27219817	G	A	G27219817A	ACBD5	NM_145698.5(ACBD5):c.531C>T:p.Thr177=	coding	Benign
10	27219829	T	C	T27219829C	ACBD5	NM_145698.5(ACBD5):c.519A>G:p.Pro173=	coding	Benign
10	27219908	T	C	T27219908C	ACBD5	NM_145698.5(ACBD5):c.491-51A>G	noncoding	Benign
10	27219932	A	G	A27219932G	ACBD5	NM_145698.5(ACBD5):c.491-75T>C	noncoding	Benign
10	27220187	G	C	G27220187C	ACBD5	NM_145698.5(ACBD5):c.491-330C>G	noncoding	Benign
10	27223085	T	C	T27223085C	ACBD5	NM_145698.5(ACBD5):c.490+253A>G	noncoding	Benign
10	27223185	T	C	T27223185C	ACBD5	NM_145698.5(ACBD5):c.490+153A>G	noncoding	Benign
10	27223511	A	G	A27223511G	ACBD5	NM_145698.5(ACBD5):c.376-59T>C	noncoding	Benign
10	27235038	G	A	G27235038A	ACBD5	NM_145698.5(ACBD5):c.302+54C>T	noncoding	Benign
10	27235503	C	G	C27235503G	ACBD5	NM_145698.5(ACBD5):c.182-291G>C	noncoding	Benign
10	27235551	T	C	T27235551C	ACBD5	NM_145698.5(ACBD5):c.182-339A>G	noncoding	Benign
10	27240119	G	C	G27240119C	ACBD5	NM_145698.5(ACBD5):c.181+200C>G	noncoding	Benign
10	27240422	C	T	C27240422T	ACBD5	NM_145698.5(ACBD5):c.78G>A:p.Trp26Ter	coding	Pathogenic
10	27240458	C	T	C27240458T	ACBD5	NM_145698.5(ACBD5):c.42G>A:p.Trp14Ter	coding	Pathogenic
10	27240620	C	A	C27240620A	ACBD5	NM_145698.5(ACBD5):c.15+54G>T	coding	Benign
10	27240683	G	A	G27240683A	ACBD5	NM_145698.5(ACBD5):c.6C>T:p.Leu2=	coding	Benign
10	27240922	C	A	C27240922A	ACBD5	NM_001042473.4(ACBD5):c.-90-438G>T	noncoding	Benign
10	27240987	G	A	G27240987A	ACBD5	NM_001042473.4(ACBD5):c.-90-503C>T	noncoding	Benign
10	27504003	C	T	C27504003T	RAB18	Single_allele	noncoding	Benign
10	27526946	G	A	G27526946A	RAB18	NM_021252.5(RAB18):c.186+57G>A	noncoding	Benign
10	27532821	G	A	G27532821A	RAB18	NM_021252.5(RAB18):c.259+242G>A	noncoding	Benign
10	27533887	T	A	T27533887A	RAB18	NM_021252.5(RAB18):c.378+34T>A	noncoding	Benign
10	27812382	T	C	T27812382C	ODAD2	NM_018076.5(ODAD2):c.*130A>G	noncoding	Benign
10	27860596	G	A	G27860596A	ODAD2	NM_018076.5(ODAD2):c.3021+29C>T	noncoding	Benign
10	27861054	C	T	C27861054T	ODAD2	NM_018076.5(ODAD2):c.2800-208G>A	noncoding	Benign
10	27907540	C	T	C27907540T	ODAD2	NM_018076.5(ODAD2):c.2610+123G>A	noncoding	Benign
10	27907652	T	C	T27907652C	ODAD2	NM_018076.5(ODAD2):c.2610+11A>G	noncoding	Benign
10	27907789	C	A	C27907789A	ODAD2	NM_018076.5(ODAD2):c.2496-12G>T	noncoding	Benign
10	27935146	G	A	G27935146A	ODAD2	NM_018076.5(ODAD2):c.2359C>T:p.Arg787Cys	coding	Benign
10	27936968	G	T	G27936968T	ODAD2	NM_018076.5(ODAD2):c.2098-88C>A	noncoding	Benign
10	27937154	C	T	C27937154T	ODAD2	NM_018076.5(ODAD2):c.2098-274G>A	noncoding	Benign
10	27939842	T	C	T27939842C	ODAD2	NM_018076.5(ODAD2):c.2097+55A>G	noncoding	Benign
10	27939997	C	T	C27939997T	ODAD2	NM_018076.5(ODAD2):c.1997G>A:p.Arg666Gln	coding	Benign
10	27940550	C	T	C27940550T	ODAD2	NM_018076.5(ODAD2):c.1986+13G>A	noncoding	Benign
10	27944143	G	A	G27944143A	ODAD2	NM_018076.5(ODAD2):c.1743+79C>T	noncoding	Benign
10	27944191	A	C	A27944191C	ODAD2	NM_018076.5(ODAD2):c.1743+31T>G	noncoding	Benign
10	27944211	C	T	C27944211T	ODAD2	NM_018076.5(ODAD2):c.1743+11G>A	noncoding	Benign
10	27944450	G	C	G27944450C	ODAD2	NM_018076.5(ODAD2):c.1534-19C>G	noncoding	Benign
10	27944459	C	T	C27944459T	ODAD2	NM_018076.5(ODAD2):c.1534-28G>A	noncoding	Benign
10	27944540	T	A	T27944540A	ODAD2	NM_018076.5(ODAD2):c.1534-109A>T	noncoding	Benign
10	27944803	C	G	C27944803G	ODAD2	NM_018076.5(ODAD2):c.1533+13G>C	noncoding	Benign
10	27945002	G	A	G27945002A	ODAD2	NM_018076.5(ODAD2):c.1387-40C>T	noncoding	Benign
10	27945004	A	G	A27945004G	ODAD2	NM_018076.5(ODAD2):c.1387-42T>C	noncoding	Benign
10	27961346	G	A	G27961346A	ODAD2	NM_018076.5(ODAD2):c.1386+222C>T	noncoding	Benign
10	27961681	C	A	C27961681A	ODAD2	NM_018076.5(ODAD2):c.1273G>T:p.Asp425Tyr	coding	Benign
10	27961706	A	C	A27961706C	ODAD2	NM_018076.5(ODAD2):c.1248T>G:p.Ala416=	coding	Benign
10	27962023	C	A	C27962023A	ODAD2	NM_018076.5(ODAD2):c.1239-308G>T	noncoding	Benign
10	27969105	G	A	G27969105A	ODAD2	NM_018076.5(ODAD2):c.1143-87C>T	noncoding	Benign
10	27971011	C	T	C27971011T	ODAD2	NM_018076.5(ODAD2):c.1142+97G>A	noncoding	Benign
10	27971452	G	C	G27971452C	ODAD2	NM_018076.5(ODAD2):c.937-139C>G	noncoding	Benign
10	27971614	A	G	A27971614G	ODAD2	NM_018076.5(ODAD2):c.937-301T>C	noncoding	Benign
10	27981289	C	A	C27981289A	ODAD2	NM_018076.5(ODAD2):c.936+177G>T	noncoding	Benign
10	27981683	C	T	C27981683T	ODAD2	NM_018076.5(ODAD2):c.820-101G>A	noncoding	Benign
10	27981839	C	G	C27981839G	ODAD2	NM_018076.5(ODAD2):c.820-257G>C	coding	Benign
10	27984292	T	A	T27984292A	ODAD2	NM_018076.5(ODAD2):c.576-2A>T	noncoding	Pathogenic
10	27985433	C	A	C27985433A	ODAD2	NM_018076.5(ODAD2):c.383-222G>T	noncoding	Benign
10	27987344	G	A	G27987344A	ODAD2	NM_018076.5(ODAD2):c.382+42C>T	noncoding	Benign
10	27994754	C	T	C27994754T	ODAD2	NM_018076.5(ODAD2):c.224+165G>A	noncoding	Benign
10	27995046	C	A	C27995046A	ODAD2	NM_018076.5(ODAD2):c.97G>T:p.Glu33Ter	coding	Pathogenic
10	27995445	G	T	G27995445T	ODAD2	NM_018076.5(ODAD2):c.-38-265C>A	noncoding	Benign
10	27995475	T	C	T27995475C	ODAD2	NM_018076.5(ODAD2):c.-38-295A>G	noncoding	Benign
10	28533444	A	C	A28533444C	WAC	NM_016628.5(WAC):c.-136A>C	noncoding	Benign
10	28533561	A	G	A28533561G	WAC	NM_016628.5(WAC):c.-19A>G	noncoding	Benign
10	28533658	G	T	G28533658T	WAC	NM_016628.5(WAC):c.41+38G>T	noncoding	Benign
10	28534053	G	T	G28534053T	WAC	NM_016628.5(WAC):c.78+19G>T	noncoding	Benign
10	28534057	A	G	A28534057G	WAC	NM_016628.5(WAC):c.78+23A>G	noncoding	Benign
10	28534068	G	A	G28534068A	WAC	NM_016628.5(WAC):c.78+34G>A	noncoding	Benign
10	28534197	G	A	G28534197A	WAC	NM_016628.5(WAC):c.78+163G>A	noncoding	Benign
10	28534198	C	T	C28534198T	WAC	NM_016628.5(WAC):c.78+164C>T	noncoding	Benign
10	28535335	G	T	G28535335T	WAC	NM_016628.5(WAC):c.79-227G>T	noncoding	Benign
10	28535556	T	C	T28535556C	WAC	NM_016628.5(WAC):c.79-6T>C	noncoding	Benign
10	28535690	C	A	C28535690A	WAC	NM_016628.5(WAC):c.207C>A:p.Tyr69Ter	coding	Pathogenic
10	28535809	A	G	A28535809G	WAC	NM_016628.5(WAC):c.274+52A>G	noncoding	Benign
10	28583408	A	G	A28583408G	WAC	NM_016628.5(WAC):c.284A>G:p.Tyr95Cys	coding	Benign
10	28589798	C	A	C28589798A	WAC	NM_016628.5(WAC):c.444C>A:p.Tyr148Ter	coding	Pathogenic
10	28589865	A	T	A28589865T	WAC	NM_016628.5(WAC):c.497+14A>T	noncoding	Benign
10	28590674	G	T	G28590674T	WAC	NM_016628.5(WAC):c.498-46G>T	noncoding	Benign
10	28590730	C	T	C28590730T	WAC	NM_016628.5(WAC):c.508C>T:p.Gln170Ter	coding	Pathogenic
10	28590909	A	G	A28590909G	WAC	NM_016628.5(WAC):c.610+77A>G	noncoding	Benign
10	28595433	G	A	G28595433A	WAC	NM_016628.5(WAC):c.611-300G>A	noncoding	Benign
10	28595700	C	G	C28595700G	WAC	NM_016628.5(WAC):c.611-33C>G	noncoding	Benign
10	28595891	A	G	A28595891G	WAC	NM_016628.5(WAC):c.769A>G:p.Thr257Ala	coding	Benign
10	28608158	T	G	T28608158G	WAC	NM_016628.5(WAC):c.920-28T>G	noncoding	Benign
10	28608756	G	A	G28608756A	WAC	NM_016628.5(WAC):c.1165+325G>A	noncoding	Benign
10	28610394	T	C	T28610394C	WAC	NM_016628.5(WAC):c.1166-305T>C	noncoding	Benign
10	28610541	G	T	G28610541T	WAC	NM_016628.5(WAC):c.1166-158G>T	noncoding	Benign
10	28610856	C	T	C28610856T	WAC	NM_016628.5(WAC):c.1288+35C>T	noncoding	Benign
10	28611788	C	T	C28611788T	WAC	NM_016628.5(WAC):c.1303C>T:p.Gln435Ter	coding	Pathogenic
10	28611876	C	T	C28611876T	WAC	NM_016628.5(WAC):c.1391C>T:p.Pro464Leu	coding	Benign/Likely_benign
10	28611953	G	T	G28611953T	WAC	NM_016628.5(WAC):c.1437+31G>T	noncoding	Benign
10	28614566	G	T	G28614566T	WAC	NM_016628.5(WAC):c.1438-1G>T	noncoding	Pathogenic
10	28614735	A	G	A28614735G	WAC	NM_016628.5(WAC):c.1556+50A>G	noncoding	Benign
10	28614842	G	A	G28614842A	WAC	NM_016628.5(WAC):c.1556+157G>A	noncoding	Benign
10	28616150	A	G	A28616150G	WAC	NM_016628.5(WAC):c.1557-23A>G	noncoding	Benign
10	28616364	T	C	T28616364C	WAC	NM_016628.5(WAC):c.1746+2T>C	noncoding	Pathogenic
10	28617656	G	A	G28617656A	WAC	NM_016628.5(WAC):c.1747-1G>A	noncoding	Pathogenic
10	28617687	A	G	A28617687G	WAC	NM_016628.5(WAC):c.1777A>G:p.Met593Val	coding	Benign
10	28617774	C	T	C28617774T	WAC	NM_016628.5(WAC):c.1864C>T:p.Arg622Ter	coding	Pathogenic
10	28619245	C	A	C28619245A	WAC	NM_016628.5(WAC):c.1875-292C>A	noncoding	Benign
10	28619413	T	A	T28619413A	WAC	NM_016628.5(WAC):c.1875-124T>A	noncoding	Benign
10	28619510	G	T	G28619510T	WAC	NM_016628.5(WAC):c.1875-27G>T	noncoding	Benign
10	28619643	A	G	A28619643G	WAC	NM_016628.5(WAC):c.*37A>G	noncoding	Benign
10	29458292	G	A	G29458292A	SVIL	NM_021738.3(SVIL):c.6600C>T:p.Pro2200=	coding	Benign
10	29458386	C	T	C29458386T	SVIL	NM_021738.3(SVIL):c.6558+48G>A	coding	Benign
10	29458488	C	T	C29458488T	SVIL	NM_021738.3(SVIL):c.6504G>A:p.Pro2168=	coding	Benign
10	29458689	T	A	T29458689A	SVIL	NM_021738.3(SVIL):c.6403-100A>T	noncoding	Benign
10	29462539	C	T	C29462539T	SVIL	NM_021738.3(SVIL):c.6278-138G>A	noncoding	Benign
10	29463282	T	G	T29463282G	SVIL	NM_021738.3(SVIL):c.6277+210A>C	noncoding	Benign
10	29465580	C	T	C29465580T	SVIL	NM_021738.3(SVIL):c.6133+15G>A	noncoding	Benign
10	29465606	G	A	G29465606A	SVIL	NM_021738.3(SVIL):c.6122C>T:p.Ala2041Val	coding	Benign
10	29465614	C	T	C29465614T	SVIL	NM_021738.3(SVIL):c.6114G>A:p.Leu2038=	coding	Benign
10	29465680	T	C	T29465680C	SVIL	NM_021738.3(SVIL):c.6048A>G:p.Thr2016=	coding	Benign
10	29465715	T	C	T29465715C	SVIL	NM_021738.3(SVIL):c.6013A>G:p.Ile2005Val	coding	Benign
10	29465746	A	G	A29465746G	SVIL	NM_021738.3(SVIL):c.5982T>C:p.Pro1994=	coding	Benign
10	29467530	C	G	C29467530G	SVIL	NM_021738.3(SVIL):c.5977+212G>C	coding	Benign
10	29470296	A	G	A29470296G	SVIL	NM_021738.3(SVIL):c.5823T>C:p.Ala1941=	coding	Benign
10	29470498	G	A	G29470498A	SVIL	NM_021738.3(SVIL):c.5636-15C>T	noncoding	Benign
10	29470505	C	T	C29470505T	SVIL	NM_021738.3(SVIL):c.5636-22G>A	noncoding	Benign
10	29470663	G	A	G29470663A	SVIL	NM_021738.3(SVIL):c.5636-180C>T	noncoding	Benign
10	29471280	C	T	C29471280T	SVIL	NM_021738.3(SVIL):c.5530-37G>A	noncoding	Benign
10	29473677	C	T	C29473677T	SVIL	NM_021738.3(SVIL):c.5529+161G>A	noncoding	Benign
10	29473727	G	A	G29473727A	SVIL	NM_021738.3(SVIL):c.5529+111C>T	noncoding	Benign
10	29474068	C	G	C29474068G	SVIL	NM_021738.3(SVIL):c.5378-79G>C	noncoding	Benign
10	29474068	C	T	C29474068T	SVIL	NM_021738.3(SVIL):c.5378-79G>A	noncoding	Benign
10	29474151	G	A	G29474151A	SVIL	NM_021738.3(SVIL):c.5378-162C>T	noncoding	Benign
10	29480359	C	T	C29480359T	SVIL	NM_021738.3(SVIL):c.5377+178G>A	noncoding	Benign
10	29480660	C	T	C29480660T	SVIL	NM_021738.3(SVIL):c.5254G>A:p.Val1752Ile	coding	Benign
10	29480718	G	A	G29480718A	SVIL	NM_021738.3(SVIL):c.5196C>T:p.Val1732=	coding	Benign
10	29481622	A	G	A29481622G	SVIL	NM_021738.3(SVIL):c.5062T>C:p.Ser1688Pro	coding	Benign
10	29484542	G	A	G29484542A	SVIL	NM_021738.3(SVIL):c.4955+114C>T	coding	Benign
10	29485976	C	T	C29485976T	SVIL	NM_021738.3(SVIL):c.4779+109G>A	noncoding	Benign
10	29487360	T	C	T29487360C	SVIL	NM_021738.3(SVIL):c.4349-61A>G	coding	Benign
10	29487480	C	T	C29487480T	SVIL	NM_021738.3(SVIL):c.4349-181G>A	coding	Benign
10	29488629	G	A	G29488629A	SVIL	NM_021738.3(SVIL):c.4320C>T:p.Tyr1440=	coding	Benign
10	29490691	C	T	C29490691T	SVIL	NM_021738.3(SVIL):c.4192+156G>A	noncoding	Benign
10	29491007	G	A	G29491007A	SVIL	NM_021738.3(SVIL):c.4032C>T:p.Ser1344=	coding	Benign
10	29493096	C	G	C29493096G	SVIL	NM_021738.3(SVIL):c.4019+118G>C	noncoding	Benign
10	29493099	G	T	G29493099T	SVIL	NM_021738.3(SVIL):c.4019+115C>A	noncoding	Benign
10	29493137	A	G	A29493137G	SVIL	NM_021738.3(SVIL):c.4019+77T>C	noncoding	Benign
10	29494762	A	T	A29494762T	SVIL	NM_021738.3(SVIL):c.3841+152T>A	noncoding	Benign
10	29494763	G	A	G29494763A	SVIL	NM_021738.3(SVIL):c.3841+151C>T	noncoding	Benign
10	29494831	T	C	T29494831C	SVIL	NM_021738.3(SVIL):c.3841+83A>G	noncoding	Benign
10	29494884	G	A	G29494884A	SVIL	NM_021738.3(SVIL):c.3841+30C>T	noncoding	Benign
10	29494904	C	T	C29494904T	SVIL	NM_021738.3(SVIL):c.3841+10G>A	noncoding	Benign
10	29494956	A	G	A29494956G	SVIL	NM_021738.3(SVIL):c.3799T>C:p.Leu1267=	coding	Benign
10	29495074	G	A	G29495074A	SVIL	NM_021738.3(SVIL):c.3754+18C>T	noncoding	Benign
10	29495143	G	C	G29495143C	SVIL	NM_021738.3(SVIL):c.3703C>G:p.Pro1235Ala	coding	Benign
10	29495185	T	C	T29495185C	SVIL	NM_021738.3(SVIL):c.3665-4A>G	noncoding	Benign
10	29495247	G	A	G29495247A	SVIL	NM_021738.3(SVIL):c.3665-66C>T	noncoding	Benign
10	29495248	T	C	T29495248C	SVIL	NM_021738.3(SVIL):c.3665-67A>G	noncoding	Benign
10	29495249	G	C	G29495249C	SVIL	NM_021738.3(SVIL):c.3665-68C>G	noncoding	Benign
10	29495259	A	G	A29495259G	SVIL	NM_021738.3(SVIL):c.3665-78T>C	noncoding	Benign
10	29495261	A	G	A29495261G	SVIL	NM_021738.3(SVIL):c.3665-80T>C	noncoding	Benign
10	29495289	G	T	G29495289T	SVIL	NM_021738.3(SVIL):c.3665-108C>A	noncoding	Benign
10	29495359	A	G	A29495359G	SVIL	NM_021738.3(SVIL):c.3665-178T>C	noncoding	Benign
10	29495361	C	T	C29495361T	SVIL	NM_021738.3(SVIL):c.3665-180G>A	noncoding	Benign
10	29495368	T	A	T29495368A	SVIL	NM_021738.3(SVIL):c.3665-187A>T	noncoding	Benign
10	29499057	A	G	A29499057G	SVIL	NM_021738.3(SVIL):c.3664+59T>C	noncoding	Benign
10	29499062	G	C	G29499062C	SVIL	NM_021738.3(SVIL):c.3664+54C>G	noncoding	Benign
10	29512626	T	C	T29512626C	SVIL	NM_021738.3(SVIL):c.3516+109A>G	noncoding	Benign
10	29522814	T	C	T29522814C	SVIL	NM_021738.3(SVIL):c.3164-179A>G	noncoding	Benign
10	29523493	C	A	C29523493A	SVIL	NM_021738.3(SVIL):c.3121G>T:p.Val1041Leu	coding	Benign
10	29523673	G	T	G29523673T	SVIL	NM_021738.3(SVIL):c.2941C>A:p.Arg981=	coding	Benign
10	29524018	C	A	C29524018A	SVIL	NM_021738.3(SVIL):c.2596G>T:p.Gly866Ter	coding	Pathogenic
10	29524419	T	G	T29524419G	SVIL	NM_021738.3(SVIL):c.2586+53A>C	noncoding	Benign
10	29524453	C	T	C29524453T	SVIL	NM_021738.3(SVIL):c.2586+19G>A	noncoding	Benign
10	29526805	C	T	C29526805T	SVIL	NM_021738.3(SVIL):c.2342+156G>A	noncoding	Benign
10	29526809	T	C	T29526809C	SVIL	NM_021738.3(SVIL):c.2342+152A>G	noncoding	Benign
10	29529675	A	C	A29529675C	SVIL	NM_021738.3(SVIL):c.2246+30T>G	noncoding	Benign
10	29529898	C	T	C29529898T	SVIL	NM_021738.3(SVIL):c.2107-54G>A	noncoding	Benign
10	29529899	G	A	G29529899A	SVIL	NM_021738.3(SVIL):c.2107-55C>T	noncoding	Benign
10	29531141	G	A	G29531141A	SVIL	NM_021738.3(SVIL):c.2044+113C>T	noncoding	Benign
10	29531829	T	C	T29531829C	SVIL	NM_021738.3(SVIL):c.2009+173A>G	noncoding	Benign
10	29532008	G	A	G29532008A	SVIL	NM_021738.3(SVIL):c.2003C>T:p.Ser668Leu	coding	Benign
10	29532160	C	T	C29532160T	SVIL	NM_021738.3(SVIL):c.1851G>A:p.Val617=	coding	Benign
10	29532233	T	C	T29532233C	SVIL	NM_021738.3(SVIL):c.1839-61A>G	noncoding	Benign
10	29532546	G	A	G29532546A	SVIL	NM_021738.3(SVIL):c.1821C>T:p.Ala607=	coding	Benign
10	29532594	T	C	T29532594C	SVIL	NM_021738.3(SVIL):c.1773A>G:p.Lys591=	coding	Benign
10	29533103	C	T	C29533103T	SVIL	NM_021738.3(SVIL):c.1264G>A:p.Val422Ile	coding	Benign
10	29533230	T	C	T29533230C	SVIL	NM_021738.3(SVIL):c.1137A>G:p.Leu379=	coding	Benign
10	29535851	G	C	G29535851C	SVIL	NM_021738.3(SVIL):c.908+138C>G	noncoding	Benign
10	29551109	A	G	A29551109G	SVIL	NM_021738.3(SVIL):c.315T>C:p.Ile105=	coding	Benign
10	29551235	A	G	A29551235G	SVIL	NM_021738.3(SVIL):c.189T>C:p.Ser63=	coding	Benign
10	29551428	T	C	T29551428C	SVIL	NM_021738.3(SVIL):c.161-165A>G	noncoding	Benign
10	29554653	C	T	C29554653T	SVIL	NM_021738.3(SVIL):c.160+130G>A	noncoding	Benign
10	29554744	C	G	C29554744G	SVIL	NM_021738.3(SVIL):c.160+39G>C	noncoding	Benign
10	29554804	C	G	C29554804G	SVIL	NM_021738.3(SVIL):c.139G>C:p.Asp47His	coding	Pathogenic
10	29554904	C	T	C29554904T	SVIL	NM_021738.3(SVIL):c.39G>A:p.Gly13=	coding	Benign
10	29555122	A	G	A29555122G	SVIL	NM_021738.3(SVIL):c.-50-14T>C	noncoding	Benign
10	29555138	T	C	T29555138C	SVIL	NM_021738.3(SVIL):c.-50-30A>G	noncoding	Benign
10	29555346	G	A	G29555346A	SVIL	NM_021738.3(SVIL):c.-50-238C>T	noncoding	Benign
10	30315856	A	G	A30315856G	MTPAP	NM_018109.4(MTPAP):c.1386+107T>C	noncoding	Benign
10	30322354	G	C	G30322354C	MTPAP	NM_018109.4(MTPAP):c.1219+37C>G	noncoding	Benign
10	30322574	G	A	G30322574A	MTPAP	NM_018109.4(MTPAP):c.1036C>T:p.Leu346=	coding	Benign
10	30322685	C	T	C30322685T	MTPAP	NM_018109.4(MTPAP):c.993-68G>A	noncoding	Benign
10	30326416	G	A	G30326416A	MTPAP	NM_018109.4(MTPAP):c.992+8C>T	noncoding	Benign
10	30326500	A	G	A30326500G	MTPAP	NM_018109.4(MTPAP):c.916T>C:p.Leu306=	coding	Benign
10	30326709	A	G	A30326709G	MTPAP	NM_018109.4(MTPAP):c.781-74T>C	noncoding	Benign
10	30336537	T	C	T30336537C	MTPAP	NM_018109.4(MTPAP):c.780+266A>G	noncoding	Benign
10	30337038	G	A	G30337038A	MTPAP	NM_018109.4(MTPAP):c.556-11C>T	noncoding	Benign/Likely_benign
10	30337074	C	T	C30337074T	MTPAP	NM_018109.4(MTPAP):c.556-47G>A	noncoding	Benign
10	30340108	G	C	G30340108C	MTPAP	NM_018109.4(MTPAP):c.555+118C>G	noncoding	Benign
10	30340153	C	T	C30340153T	MTPAP	NM_018109.4(MTPAP):c.555+73G>A	noncoding	Benign
10	30340295	G	A	G30340295A	MTPAP	NM_018109.4(MTPAP):c.486C>T:p.Arg162=	coding	Benign/Likely_benign
10	30340436	G	A	G30340436A	MTPAP	NM_018109.4(MTPAP):c.345C>T:p.Val115=	coding	Benign
10	30341217	G	A	G30341217A	MTPAP	NM_018109.4(MTPAP):c.330+251C>T	noncoding	Benign
10	30341667	C	T	C30341667T	MTPAP	NM_018109.4(MTPAP):c.158-27G>A	noncoding	Benign
10	30349066	C	G	C30349066G	MTPAP	NM_018109.4(MTPAP):c.157+53G>C	noncoding	Benign
10	30349357	A	G	A30349357G	MTPAP	Single_allele	noncoding	Benign
10	30349429	G	A	G30349429A	MTPAP	Single_allele	noncoding	Benign
10	30439160	A	C	A30439160C	MAP3K8	NM_005204.4(MAP3K8):c.222A>C:p.Ser74=	coding	Benign
10	30439172	T	C	T30439172C	MAP3K8	NM_005204.4(MAP3K8):c.234T>C:p.Tyr78=	coding	Benign
10	30439293	A	T	A30439293T	MAP3K8	NM_005204.4(MAP3K8):c.336+19A>T	noncoding	Benign
10	30439321	A	G	A30439321G	MAP3K8	NM_005204.4(MAP3K8):c.336+47A>G	noncoding	Benign
10	30439535	T	C	T30439535C	MAP3K8	NM_005204.4(MAP3K8):c.336+261T>C	noncoding	Benign
10	30439560	C	T	C30439560T	MAP3K8	NM_005204.4(MAP3K8):c.336+286C>T	noncoding	Benign
10	30450129	A	G	A30450129G	MAP3K8	NM_005204.4(MAP3K8):c.505-129A>G	noncoding	Benign
10	30451450	G	A	G30451450A	MAP3K8	NM_005204.4(MAP3K8):c.767-188G>A	noncoding	Benign
10	30457895	C	T	C30457895T	MAP3K8	NM_005204.4(MAP3K8):c.874-189C>T	noncoding	Benign
10	30458252	C	T	C30458252T	MAP3K8	NM_005204.4(MAP3K8):c.1026+16C>T	noncoding	Benign
10	30459284	C	T	C30459284T	MAP3K8	NM_005204.4(MAP3K8):c.1056C>T:p.Asp352=	coding	Benign
10	30459497	T	C	T30459497C	MAP3K8	NM_005204.4(MAP3K8):c.1269T>C:p.Ile423=	coding	Benign
10	30459513	C	T	C30459513T	MAP3K8	NM_005204.4(MAP3K8):c.1273+12C>T	noncoding	Benign
10	30459569	T	C	T30459569C	MAP3K8	NM_005204.4(MAP3K8):c.1273+68T>C	noncoding	Benign
10	30460662	G	T	G30460662T	MAP3K8	NM_005204.4(MAP3K8):c.1274-44G>T	noncoding	Benign
10	30460712	C	T	C30460712T	MAP3K8	NM_005204.4(MAP3K8):c.1280C>T:p.Ser427Leu	coding	Benign
10	31461170	C	T	C31461170T	ZEB1	NM_001174096.2(ZEB1):c.192C>T:p.Asp64=	coding	Benign
10	31514588	G	A	G31514588A	ZEB1	NM_001174096.2(ZEB1):c.688-15G>A	noncoding	Benign
10	31514614	G	A	G31514614A	ZEB1	NM_001174096.2(ZEB1):c.699G>A:p.Thr233=	coding	Benign
10	31520683	C	T	C31520683T	ZEB1	NM_001174096.2(ZEB1):c.1351C>T:p.Gln451Ter	coding	Pathogenic
10	32023041	A	G	A32023041G	KIF5B	NM_004521.3(KIF5B):c.1726-5T>C	noncoding	Benign
10	43076848	G	A	G43076848A	RET	Single_allele	noncoding	Benign
10	43077191	C	T	C43077191T	RET	NM_020975.6(RET):c.-68C>T	noncoding	Benign
10	43077384	G	A	G43077384A	RET	NM_020975.6(RET):c.73+53G>A	noncoding	Benign
10	43077503	A	C	A43077503C	RET	NM_020975.6(RET):c.73+172A>C	noncoding	Benign
10	43086520	C	A	C43086520A	RET	NM_020975.6(RET):c.73+9189C>A	noncoding	Benign
10	43086662	A	G	A43086662G	RET	NM_020975.6(RET):c.73+9331A>G	noncoding	Benign
10	43100585	G	A	G43100585A	RET	NM_020975.6(RET):c.200G>A:p.Arg67His	coding	Benign/Likely_benign
10	43100614	C	T	C43100614T	RET	NM_020975.6(RET):c.229C>T:p.Arg77Cys	coding	Pathogenic
10	43100655	G	A	G43100655A	RET	NM_020975.6(RET):c.270G>A:p.Glu90_Asp91=	coding	Benign/Likely_benign
10	43100702	G	A	G43100702A	RET	NM_020975.6(RET):c.317G>A:p.Trp106Ter	coding	Pathogenic
10	43100703	G	A	G43100703A	RET	NM_020975.6(RET):c.318G>A:p.Trp106Ter	coding	Pathogenic
10	43102236	G	A	G43102236A	RET	NM_020975.6(RET):c.338-106G>A	noncoding	Benign
10	43102628	G	T	G43102628T	RET	NM_020975.6(RET):c.624G>T:p.Glu208Asp	coding	Benign/Likely_benign
10	43102772	C	T	C43102772T	RET	NM_020975.6(RET):c.625+143C>T	noncoding	Benign
10	43106111	G	A	G43106111A	RET	NM_020975.6(RET):c.868-265G>A	noncoding	Benign
10	43106301	T	C	T43106301C	RET	NM_020975.6(RET):c.868-75T>C	noncoding	Benign
10	43106468	C	T	C43106468T	RET	NM_020975.6(RET):c.960C>T:p.Pro320_Gly321=	coding	Benign/Likely_benign
10	43106618	G	A	G43106618A	RET	NM_020975.6(RET):c.1063+47G>A	noncoding	Benign
10	43108942	A	T	A43108942T	RET	NM_020975.6(RET):c.1064-89A>T	noncoding	Benign
10	43109219	C	T	C43109219T	RET	NM_020975.6(RET):c.1252C>T:p.Arg418Ter	coding	Pathogenic
10	43109502	A	G	A43109502G	RET	NM_020975.6(RET):c.1263+272A>G	noncoding	Benign
10	43111258	C	T	C43111258T	RET	NM_020975.6(RET):c.1315C>T:p.Gln439Ter	coding	Pathogenic
10	43111411	C	G	C43111411G	RET	NM_020975.6(RET):c.1468C>G:p.Gln490Glu	coding	Benign
10	43111414	C	T	C43111414T	RET	NM_020975.6(RET):c.1471C>T:p.Gln491Ter	coding	Pathogenic
10	43111438	C	T	C43111438T	RET	NM_020975.6(RET):c.1495C>T:p.Gln499Ter	coding	Pathogenic
10	43111773	C	G	C43111773G	RET	NM_020975.6(RET):c.1522+308C>G	noncoding	Benign
10	43112412	G	A	G43112412A	RET	NM_020975.6(RET):c.1648+188G>A	noncoding	Benign
10	43113416	C	G	C43113416G	RET	NM_020975.6(RET):c.1760-140C>G	noncoding	Benign
10	43113499	G	T	G43113499T	RET	NM_020975.6(RET):c.1760-57G>T	noncoding	Benign
10	43113692	C	T	C43113692T	RET	NM_020975.6(RET):c.1879+17C>T	noncoding	Benign/Likely_benign
10	43114464	C	T	C43114464T	RET	NM_020975.6(RET):c.1880-16C>T	noncoding	Benign
10	43114493	C	T	C43114493T	RET	NM_020975.6(RET):c.1893C>T:p.Asp631_Glu632=	coding	Benign/Likely_benign
10	43114601	A	T	A43114601T	RET	NM_020975.6(RET):c.2001A>T:p.Pro667_Pro668=	coding	Benign/Likely_benign
10	43114751	G	A	G43114751A	RET	NM_020975.6(RET):c.2136+15G>A	noncoding	Benign/Likely_benign
10	43114918	G	A	G43114918A	RET	NM_020975.6(RET):c.2136+182G>A	noncoding	Benign
10	43115007	T	C	T43115007C	RET	NM_020975.6(RET):c.2136+271T>C	noncoding	Benign
10	43115008	G	A	G43115008A	RET	NM_020975.6(RET):c.2136+272G>A	noncoding	Benign
10	43115173	T	C	T43115173C	RET	NM_020975.6(RET):c.2136+437T>C	noncoding	Benign
10	43115790	T	C	T43115790C	RET	NM_020975.6(RET):c.2137-794T>C	noncoding	Benign
10	43115840	A	G	A43115840G	RET	NM_020975.6(RET):c.2137-744A>G	noncoding	Benign
10	43116188	G	A	G43116188A	RET	NM_020975.6(RET):c.2137-396G>A	noncoding	Benign
10	43116260	A	G	A43116260G	RET	NM_020975.6(RET):c.2137-324A>G	noncoding	Benign
10	43116331	C	T	C43116331T	RET	NM_020975.6(RET):c.2137-253C>T	noncoding	Benign
10	43116583	G	A	G43116583A	RET	NM_020975.6(RET):c.2137-1G>A	noncoding	Pathogenic
10	43118288	G	A	G43118288A	RET	NM_020975.6(RET):c.2285-85G>A	noncoding	Benign
10	43118369	T	G	T43118369G	RET	NM_020975.6(RET):c.2285-4T>G	noncoding	Benign/Likely_benign
10	43118782	G	A	G43118782A	RET	NM_020975.6(RET):c.2392+302G>A	noncoding	Benign
10	43119437	C	A	C43119437A	RET	NM_020975.6(RET):c.2393-94C>A	noncoding	Benign
10	43119565	C	A	C43119565A	RET	NM_020975.6(RET):c.2427C>A:p.Tyr809Ter	coding	Pathogenic
10	43119957	G	A	G43119957A	RET	NM_020975.6(RET):c.2608-124G>A	noncoding	Benign
10	43120460	C	T	C43120460T	RET	NM_020975.6(RET):c.2730+257C>T	noncoding	Benign
10	43120525	C	T	C43120525T	RET	NM_020975.6(RET):c.2730+322C>T	noncoding	Benign
10	43121656	A	G	A43121656G	RET	NM_020975.6(RET):c.2731-290A>G	noncoding	Benign
10	43122070	A	T	A43122070T	RET	NM_020975.6(RET):c.2801+54A>T	noncoding	Benign
10	43122088	G	A	G43122088A	RET	NM_020975.6(RET):c.2801+72G>A	noncoding	Benign
10	43123652	G	A	G43123652A	RET	NM_020975.6(RET):c.2802-19G>A	noncoding	Benign
10	43124631	G	A	G43124631A	RET	NM_020975.6(RET):c.2940-252G>A	noncoding	Benign
10	43124974	A	T	A43124974T	RET	NM_020975.6(RET):c.3031A>T:p.Lys1011Ter	coding	Pathogenic
10	43126264	A	G	A43126264G	RET	NM_020975.6(RET):c.3040-311A>G	noncoding	Benign
10	43126920	T	A	T43126920A	RET	NM_020975.6(RET):c.3187+198T>A	coding	Benign
10	44372809	C	T	C44372809T	CXCL12	NM_000609.7(CXCL12):c.*519G>A	noncoding	Benign
10	44373017	C	T	C44373017T	CXCL12	NM_000609.7(CXCL12):c.*311G>A	coding	Benign
10	44373408	A	C	A44373408C	CXCL12	NM_000609.7(CXCL12):c.267-65T>G	noncoding	Benign
10	44373416	C	T	C44373416T	CXCL12	NM_000609.7(CXCL12):c.267-73G>A	noncoding	Benign
10	44373578	C	T	C44373578T	CXCL12	NM_000609.7(CXCL12):c.267-235G>A	noncoding	Benign
10	44375898	G	A	G44375898A	CXCL12	NM_000609.7(CXCL12):c.267-2555C>T	coding	Benign
10	44376100	G	A	G44376100A	CXCL12	NM_000609.7(CXCL12):c.266+2537C>T	noncoding	Benign
10	44378401	A	G	A44378401G	CXCL12	NM_199168.4(CXCL12):c.*232T>C	coding	Benign
10	44378768	G	A	G44378768A	CXCL12	NM_199168.4(CXCL12):c.180-45C>T	noncoding	Benign
10	44378805	C	T	C44378805T	CXCL12	NM_199168.4(CXCL12):c.180-82G>A	noncoding	Benign
10	44378861	G	T	G44378861T	CXCL12	NM_199168.4(CXCL12):c.180-138C>A	noncoding	Benign
10	44380434	C	G	C44380434G	CXCL12	NM_199168.4(CXCL12):c.179+329G>C	noncoding	Benign
10	44381007	T	A	T44381007A	CXCL12	NM_199168.4(CXCL12):c.62-127A>T	noncoding	Benign
10	44381051	T	C	T44381051C	CXCL12	NM_199168.4(CXCL12):c.62-171A>G	noncoding	Benign
10	44381132	C	G	C44381132G	CXCL12	NM_199168.4(CXCL12):c.62-252G>C	noncoding	Benign
10	44381138	T	A	T44381138A	CXCL12	NM_199168.4(CXCL12):c.62-258A>T	noncoding	Benign
10	44384759	C	G	C44384759G	CXCL12	NM_199168.4(CXCL12):c.61+186G>C	noncoding	Benign
10	44384812	T	C	T44384812C	CXCL12	NM_199168.4(CXCL12):c.61+133A>G	noncoding	Benign
10	44384833	C	T	C44384833T	CXCL12	NM_199168.4(CXCL12):c.61+112G>A	noncoding	Benign
10	44384928	C	T	C44384928T	CXCL12	NM_199168.4(CXCL12):c.61+17G>A	noncoding	Benign
10	44385390	T	C	T44385390C	CXCL12	Single_allele	noncoding	Benign
10	47323104	G	A	G47323104A	GDF2	NM_016204.4(GDF2):c.346+90G>A	noncoding	Benign
10	47324813	A	G	A47324813G	GDF2	NM_016204.4(GDF2):c.347-28A>G	noncoding	Benign
10	47324846	A	T	A47324846T	GDF2	NM_016204.4(GDF2):c.352A>T:p.Ile118Phe	coding	Benign/Likely_benign
10	47325109	G	A	G47325109A	GDF2	NM_016204.4(GDF2):c.615G>A:p.Leu205=	coding	Benign
10	47325244	C	A	C47325244A	GDF2	NM_016204.4(GDF2):c.750C>A:p.Asn250Lys	coding	Benign/Likely_benign
10	47349889	C	T	C47349889T	RBP3	NM_002900.3(RBP3):c.1405C>T:p.Gln469Ter	coding	Pathogenic
10	47350558	G	T	G47350558T	RBP3	NM_002900.3(RBP3):c.2074G>T:p.Glu692Ter	coding	Pathogenic
10	47350572	C	T	C47350572T	RBP3	NM_002900.3(RBP3):c.2088C>T:p.Asp696=	coding	Benign
10	47351308	C	T	C47351308T	RBP3	NM_002900.3(RBP3):c.2824C>T:p.Gln942Ter	coding	Pathogenic
10	47351382	C	T	C47351382T	RBP3	NM_002900.3(RBP3):c.2898C>T:p.Ser966=	coding	Benign/Likely_benign
10	47353313	C	T	C47353313T	RBP3	NM_002900.3(RBP3):c.3055-12C>T	noncoding	Benign
10	47357157	C	T	C47357157T	RBP3	NM_002900.3(RBP3):c.3444C>T:p.Ala1148=	coding	Benign/Likely_benign
10	48401535	C	A	C48401535A	MAPK8	NM_001323329.2(MAPK8):c.-49-77C>A	noncoding	Benign
10	48404801	A	C	A48404801C	MAPK8	NM_001323329.2(MAPK8):c.123-51A>C	noncoding	Benign
10	48409799	T	A	T48409799A	MAPK8	NM_001323329.2(MAPK8):c.253-80T>A	noncoding	Benign
10	48409974	A	G	A48409974G	MAPK8	NM_001323329.2(MAPK8):c.311+37A>G	noncoding	Benign
10	48410309	T	G	T48410309G	MAPK8	NM_001323329.2(MAPK8):c.450+141T>G	noncoding	Benign
10	48425832	T	A	T48425832A	MAPK8	NM_001323329.2(MAPK8):c.689-56T>A	noncoding	Benign
10	48427029	T	A	T48427029A	MAPK8	NM_001323329.2(MAPK8):c.997-51T>A	noncoding	Benign
10	48435183	A	G	A48435183G	MAPK8	NM_001323329.2(MAPK8):c.*154A>G	noncoding	Benign
10	48733990	C	A	C48733990A	WDFY4	NM_001394531.1(WDFY4):c.1642C>A:p.Leu548Met	coding	Benign
10	48776988	T	G	T48776988G	WDFY4	NM_001394531.1(WDFY4):c.3098+4T>G	noncoding	Benign
10	49323504	G	T	G49323504T	C10orf71	NM_001135196.2(C10orf71):c.959G>T:p.Arg320Leu	coding	Benign
10	49323559	T	C	T49323559C	C10orf71	NM_001135196.2(C10orf71):c.1014T>C:p.Leu338=	coding	Benign
10	49323561	C	A	C49323561A	C10orf71	NM_001135196.2(C10orf71):c.1016C>A:p.Ala339Glu	coding	Benign
10	49323927	A	C	A49323927C	C10orf71	NM_001135196.2(C10orf71):c.1382A>C:p.Asp461Ala	coding	Benign
10	49459235	C	G	C49459235G	ERCC6	NM_000124.4(ERCC6):c.4063-1G>C	coding	Pathogenic/Likely_pathogenic
10	49459399	T	C	T49459399C	ERCC6	NM_000124.4(ERCC6):c.4063-165A>G	noncoding	Benign
10	49460375	G	A	G49460375A	ERCC6	NM_000124.4(ERCC6):c.4060C>T:p.Gln1354Ter	coding	Pathogenic
10	49460398	G	C	G49460398C	ERCC6	NM_000124.4(ERCC6):c.4037C>G:p.Ser1346Ter	coding	Pathogenic
10	49461116	A	G	A49461116G	ERCC6	NM_000124.4(ERCC6):c.3983+236T>C	noncoding	Benign
10	49461123	C	T	C49461123T	ERCC6	NM_000124.4(ERCC6):c.3983+229G>A	noncoding	Benign
10	49470020	G	A	G49470020A	ERCC6	NM_000124.4(ERCC6):c.3778+162C>T	noncoding	Benign
10	49471005	G	A	G49471005A	ERCC6	NM_000124.4(ERCC6):c.3040C>T:p.Gln1014Ter	coding	Pathogenic
10	49472443	G	A	G49472443A	ERCC6	NM_000124.4(ERCC6):c.2857C>T:p.Gln953Ter	coding	Pathogenic
10	49472639	A	C	A49472639C	ERCC6	NM_000124.4(ERCC6):c.2830-169T>G	noncoding	Benign
10	49472911	G	A	G49472911A	ERCC6	NM_000124.4(ERCC6):c.2827C>T:p.Gln943Ter	coding	Pathogenic
10	49473111	A	G	A49473111G	ERCC6	NM_000124.4(ERCC6):c.2710-83T>C	noncoding	Benign
10	49476182	A	G	A49476182G	ERCC6	NM_000124.4(ERCC6):c.2382+33T>C	noncoding	Benign
10	49478353	C	A	C49478353A	ERCC6	NM_000124.4(ERCC6):c.2286+1G>T	noncoding	Pathogenic
10	49478471	C	T	C49478471T	ERCC6	NM_000124.4(ERCC6):c.2170-1G>A	coding	Pathogenic
10	49482963	C	T	C49482963T	ERCC6	NM_000124.4(ERCC6):c.1993-100G>A	noncoding	Benign
10	49482991	C	T	C49482991T	ERCC6	NM_000124.4(ERCC6):c.1993-128G>A	noncoding	Benign
10	49483113	T	G	T49483113G	ERCC6	NM_000124.4(ERCC6):c.1992+233A>C	noncoding	Benign
10	49483343	T	C	T49483343C	ERCC6	NM_000124.4(ERCC6):c.1992+3A>G	noncoding	Pathogenic
10	49483687	G	A	G49483687A	ERCC6	NM_000124.4(ERCC6):c.1822-171C>T	noncoding	Benign
10	49493091	A	G	A49493091G	ERCC6	NM_000124.4(ERCC6):c.1821+26T>C	noncoding	Benign
10	49493248	C	A	C49493248A	ERCC6	NM_000124.4(ERCC6):c.1690G>T:p.Glu564Ter	coding	Pathogenic
10	49515419	C	A	C49515419A	ERCC6	NM_001277058.2(ERCC6):c.3100G>T:p.Glu1034Ter	coding	Pathogenic
10	49523802	C	G	C49523802G	ERCC6	NM_000124.4(ERCC6):c.1397+231G>C	noncoding	Benign
10	49523839	G	A	G49523839A	ERCC6	NM_000124.4(ERCC6):c.1397+194C>T	noncoding	Benign
10	49524172	G	A	G49524172A	ERCC6	NM_000124.4(ERCC6):c.1258C>T:p.Gln420Ter	coding	Pathogenic
10	49524249	T	C	T49524249C	ERCC6	NM_000124.4(ERCC6):c.1181A>G:p.Asp394Gly	coding	Benign
10	49524364	C	A	C49524364A	ERCC6	NM_000124.4(ERCC6):c.1066G>T:p.Glu356Ter	coding	Pathogenic
10	49524468	A	G	A49524468G	ERCC6	NM_000124.4(ERCC6):c.962T>C:p.Leu321Pro	coding	Benign
10	49524580	C	A	C49524580A	ERCC6	NM_000124.4(ERCC6):c.850G>T:p.Glu284Ter	coding	Pathogenic
10	49525029	C	A	C49525029A	ERCC6	NM_000124.4(ERCC6):c.653-252G>T	noncoding	Benign
10	49528282	A	T	A49528282T	ERCC6	NM_000124.4(ERCC6):c.652+135T>A	noncoding	Benign
10	49528495	G	A	G49528495A	ERCC6	NM_000124.4(ERCC6):c.574C>T:p.Gln192Ter	coding	Pathogenic/Likely_pathogenic
10	49528519	G	A	G49528519A	ERCC6	NM_000124.4(ERCC6):c.550C>T:p.Gln184Ter	coding	Pathogenic
10	49530737	G	A	G49530737A	ERCC6	NM_000124.4(ERCC6):c.526C>T:p.Arg176Ter	coding	Pathogenic/Likely_pathogenic
10	49530818	G	A	G49530818A	ERCC6	NM_000124.4(ERCC6):c.445C>T:p.Gln149Ter	coding	Pathogenic
10	49531070	A	G	A49531070G	ERCC6	NM_000124.4(ERCC6):c.423-230T>C	noncoding	Benign
10	49531164	G	A	G49531164A	ERCC6	NM_000124.4(ERCC6):c.423-324C>T	noncoding	Benign
10	49532661	G	A	G49532661A	ERCC6	NM_000124.4(ERCC6):c.304C>T:p.Gln102Ter	coding	Pathogenic
10	49532904	G	A	G49532904A	ERCC6	NM_000124.4(ERCC6):c.61C>T:p.Gln21Ter	coding	Pathogenic/Likely_pathogenic
10	49532910	G	A	G49532910A	ERCC6	NM_000124.4(ERCC6):c.55C>T:p.Gln19Ter	coding	Pathogenic
10	49533037	A	G	A49533037G	ERCC6	NM_000124.4(ERCC6):c.-14-59T>C	noncoding	Benign
10	49533134	G	A	G49533134A	ERCC6	NM_000124.4(ERCC6):c.-14-156C>T	noncoding	Benign
10	49533205	A	C	A49533205C	ERCC6	NM_000124.4(ERCC6):c.-14-227T>G	noncoding	Benign
10	49538730	C	G	C49538730G	ERCC6	NM_000124.4(ERCC6):c.-15+232G>C	noncoding	Benign
10	49538806	G	C	G49538806C	ERCC6	NM_000124.4(ERCC6):c.-15+156C>G	noncoding	Benign
10	49538810	A	G	A49538810G	ERCC6	NM_000124.4(ERCC6):c.-15+152T>C	noncoding	Benign
10	49538877	C	A	C49538877A	ERCC6	NM_000124.4(ERCC6):c.-15+85G>T	noncoding	Benign
10	49539493	G	C	G49539493C	ERCC6	NM_001277059.2(ERCC6):c.-76C>G	noncoding	Benign
10	49608962	C	A	C49608962A	CHAT	Single_allele	noncoding	Benign
10	49610781	C	T	C49610781T	SLC18A3	NM_003055.3(SLC18A3):c.41C>T:p.Ala14Val	coding	Benign
10	49610828	C	A	C49610828A	SLC18A3	NM_003055.3(SLC18A3):c.88C>A:p.Arg30_Gln31=	coding	Benign
10	49611136	T	C	T49611136C	CHAT;SLC18A3	NM_003055.3(SLC18A3):c.396T>C:p.Ala132_Ile133=	coding	Benign
10	49612324	C	T	C49612324T	SLC18A3	NM_003055.3(SLC18A3):c.1584C>T:p.Tyr528_Tyr529=	coding	Benign
10	49612378	G	T	G49612378T	SLC18A3	NM_003055.3(SLC18A3):c.*39G>T	noncoding	Benign
10	49613145	G	T	G49613145T	CHAT	NM_020984.4(CHAT):c.-68-3357G>T	noncoding	Benign
10	49613788	T	G	T49613788G	CHAT	NM_020984.4(CHAT):c.-68-2714T>G	noncoding	Benign
10	49619657	G	C	G49619657C	CHAT	NM_020549.5(CHAT):c.388-68G>C	noncoding	Benign
10	49619754	G	C	G49619754C	CHAT	NM_020549.5(CHAT):c.417G>C:p.Leu139=	coding	Benign
10	49619809	C	T	C49619809T	CHAT	NM_020549.5(CHAT):c.472C>T:p.Gln158Ter	coding	Pathogenic
10	49620247	G	A	G49620247A	CHAT	NM_020549.5(CHAT):c.580-248G>A	noncoding	Benign
10	49621847	G	T	G49621847T	CHAT	NM_020549.5(CHAT):c.699-250G>T	noncoding	Benign
10	49621907	C	T	C49621907T	CHAT	NM_020549.5(CHAT):c.699-190C>T	noncoding	Benign
10	49621928	G	A	G49621928A	CHAT	NM_020549.5(CHAT):c.699-169G>A	noncoding	Benign
10	49625457	C	T	C49625457T	CHAT	NM_020549.5(CHAT):c.753-16C>T	noncoding	Benign
10	49625636	G	A	G49625636A	CHAT	NM_020549.5(CHAT):c.916G>A:p.Val306Ile	coding	Benign
10	49627735	C	T	C49627735T	CHAT	NM_020549.5(CHAT):c.1061C>T:p.Thr354Met	coding	Pathogenic
10	49646422	G	T	G49646422T	CHAT	NM_020549.5(CHAT):c.1112-83G>T	noncoding	Benign
10	49646761	G	A	G49646761A	CHAT	NM_020549.5(CHAT):c.1281+87G>A	noncoding	Benign
10	49648482	G	A	G49648482A	CHAT	NM_020549.5(CHAT):c.1282-25G>A	noncoding	Benign
10	49649303	G	A	G49649303A	CHAT	NM_020549.5(CHAT):c.1383-205G>A	noncoding	Benign
10	49649466	G	C	G49649466C	CHAT	NM_020549.5(CHAT):c.1383-42G>C	noncoding	Benign/Likely_benign
10	49649533	C	T	C49649533T	CHAT	NM_020549.5(CHAT):c.1408C>T:p.Arg470Ter	coding	Pathogenic
10	49649635	C	T	C49649635T	CHAT	NM_020549.5(CHAT):c.1510C>T:p.Arg504Ter	coding	Pathogenic
10	49649652	G	A	G49649652A	CHAT	NM_020549.5(CHAT):c.1511+16G>A	noncoding	Benign
10	49649873	T	A	T49649873A	CHAT	NM_020549.5(CHAT):c.1511+237T>A	noncoding	Benign
10	49649880	T	A	T49649880A	CHAT	NM_020549.5(CHAT):c.1511+244T>A	noncoding	Benign
10	49655129	G	A	G49655129A	CHAT	NM_020549.5(CHAT):c.1669G>A:p.Ala557Thr	coding	Pathogenic
10	49655141	C	T	C49655141T	CHAT	NM_020549.5(CHAT):c.1681C>T:p.Arg561Ter	coding	Pathogenic
10	49662687	C	A	C49662687A	CHAT	NM_020549.5(CHAT):c.1882C>A:p.Arg628=	coding	Benign
10	49662714	G	T	G49662714T	CHAT	NM_020549.5(CHAT):c.1909G>T:p.Glu637Ter	coding	Pathogenic
10	49737822	G	C	G49737822C	OGDHL	NM_018245.3(OGDHL):c.2554C>G:p.Pro852Ala	coding	Pathogenic
10	49740832	C	T	C49740832T	OGDHL	NM_018245.3(OGDHL):c.2018G>A:p.Arg673Gln	coding	Pathogenic
10	49745784	G	A	G49745784A	OGDHL	NM_018245.3(OGDHL):c.1476+14C>T	noncoding	Benign
10	49745810	A	G	A49745810G	OGDHL	NM_018245.3(OGDHL):c.1464T>C:p.Val488=	coding	Pathogenic
10	49750840	T	C	T49750840C	OGDHL	NM_018245.3(OGDHL):c.895A>G:p.Arg299Gly	coding	Pathogenic
10	49751846	G	A	G49751846A	OGDHL	NM_018245.3(OGDHL):c.730C>T:p.Arg244Trp	coding	Pathogenic
10	50990905	C	T	C50990905T	PRKG1	NM_001098512.3(PRKG1):c.-474C>T	noncoding	Benign
10	51074142	C	T	C51074142T	PRKG1	NM_001098512.3(PRKG1):c.267-79022C>T	noncoding	Benign
10	51118018	C	T	C51118018T	PRKG1	NM_006258.4(PRKG1):c.312-35146C>T	noncoding	Benign
10	51152994	G	T	G51152994T	PRKG1	NM_006258.4(PRKG1):c.312-170G>T	noncoding	Benign
10	51153152	C	G	C51153152G	PRKG1	NM_006258.4(PRKG1):c.312-12C>G	noncoding	Benign/Likely_benign
10	51804393	A	C	A51804393C	PRKG1	NM_006258.4(PRKG1):c.593-192A>C	noncoding	Benign
10	51907674	A	T	A51907674T	PRKG1	NM_006258.4(PRKG1):c.762+104A>T	noncoding	Benign
10	51907702	A	G	A51907702G	PRKG1	NM_006258.4(PRKG1):c.762+132A>G	noncoding	Benign
10	52133670	G	T	G52133670T	PRKG1	NM_006258.4(PRKG1):c.936-170G>T	noncoding	Benign
10	52134111	T	C	T52134111C	PRKG1	NM_006258.4(PRKG1):c.1001+206T>C	noncoding	Benign
10	52161824	C	T	C52161824T	PRKG1	NM_006258.4(PRKG1):c.1002-65C>T	noncoding	Benign
10	52161877	T	C	T52161877C	PRKG1	NM_006258.4(PRKG1):c.1002-12T>C	noncoding	Benign
10	52161879	C	T	C52161879T	PRKG1	NM_006258.4(PRKG1):c.1002-10C>T	noncoding	Benign/Likely_benign
10	52271266	G	T	G52271266T	PRKG1	NM_006258.4(PRKG1):c.1174-84G>T	noncoding	Benign
10	52272197	C	T	C52272197T	PRKG1	NM_006258.4(PRKG1):c.1314-195C>T	noncoding	Benign
10	52280957	G	T	G52280957T	PRKG1	NM_006258.4(PRKG1):c.1545+27G>T	noncoding	Benign
10	52290075	G	A	G52290075A	PRKG1	NM_006258.4(PRKG1):c.1896-149G>A	noncoding	Benign
10	52293651	A	G	A52293651G	PRKG1	NM_006258.4(PRKG1):c.1963-151A>G	noncoding	Benign
10	52294057	C	T	C52294057T	PRKG1	NM_006258.4(PRKG1):c.*157C>T	noncoding	Benign
10	53808569	C	T	C53808569T	PCDH15	NM_001384140.1(PCDH15):c.4672-1439G>A	noncoding	Benign
10	53809803	A	T	A53809803T	PCDH15	NM_001384140.1(PCDH15):c.4671+753T>A	noncoding	Benign
10	53809807	T	G	T53809807G	PCDH15	NM_001384140.1(PCDH15):c.4671+749A>C	noncoding	Benign
10	53809809	C	A	C53809809A	PCDH15	NM_001384140.1(PCDH15):c.4671+747G>T	noncoding	Benign
10	53810540	A	C	A53810540C	PCDH15	NM_001384140.1(PCDH15):c.4671+16T>G	noncoding	Benign
10	53823135	C	A	C53823135A	PCDH15	NM_033056.4(PCDH15):c.4591G>T:p.Glu1531Ter	coding	Pathogenic
10	53823626	G	C	G53823626C	PCDH15	NM_001384140.1(PCDH15):c.4368-3396C>G	noncoding	Benign
10	53824841	A	T	A53824841T	PCDH15	NM_001384140.1(PCDH15):c.4367+2552T>A	noncoding	Benign
10	53827305	T	C	T53827305C	PCDH15	NM_001384140.1(PCDH15):c.4367+88A>G	noncoding	Benign/Likely_benign
10	53827520	G	A	G53827520A	PCDH15	NM_001384140.1(PCDH15):c.4240C>T:p.Arg1414Ter	coding	Pathogenic
10	53828719	C	T	C53828719T	PCDH15	NM_001384140.1(PCDH15):c.4203-146G>A	noncoding	Benign
10	53831190	C	T	C53831190T	PCDH15	NM_001384140.1(PCDH15):c.4202+125G>A	noncoding	Benign
10	53831320	G	C	G53831320C	PCDH15	NM_001384140.1(PCDH15):c.4197C>G:p.Tyr1399Ter	coding	Pathogenic
10	53831415	C	A	C53831415A	PCDH15	NM_001384140.1(PCDH15):c.4102G>T:p.Glu1368Ter	coding	Pathogenic
10	53831493	G	A	G53831493A	PCDH15	NM_001384140.1(PCDH15):c.4024C>T:p.Gln1342Ter	coding	Pathogenic
10	53831615	T	C	T53831615C	PCDH15	NM_001384140.1(PCDH15):c.3984-82A>G	noncoding	Benign
10	53840088	G	A	G53840088A	PCDH15	NM_001384140.1(PCDH15):c.3983+232C>T	noncoding	Benign
10	53840319	C	A	C53840319A	PCDH15	NM_001384140.1(PCDH15):c.3983+1G>T	noncoding	Pathogenic/Likely_pathogenic
10	53857265	T	C	T53857265C	PCDH15	NM_001384140.1(PCDH15):c.3718-2A>G	noncoding	Pathogenic
10	53857294	T	C	T53857294C	PCDH15	NM_001384140.1(PCDH15):c.3718-31A>G	noncoding	Benign
10	53866641	C	A	C53866641A	PCDH15	NM_001384140.1(PCDH15):c.3717+1G>T	noncoding	Pathogenic/Likely_pathogenic
10	53866641	C	G	C53866641G	PCDH15	NM_001384140.1(PCDH15):c.3717+1G>C	noncoding	Pathogenic
10	53866641	C	T	C53866641T	PCDH15	NM_001384140.1(PCDH15):c.3717+1G>A	noncoding	Pathogenic/Likely_pathogenic
10	53866671	T	A	T53866671A	PCDH15	NM_001384140.1(PCDH15):c.3688A>T:p.Lys1230Ter	coding	Pathogenic
10	53866759	A	C	A53866759C	PCDH15	NM_001384140.1(PCDH15):c.3600T>G:p.Tyr1200Ter	coding	Pathogenic
10	53866876	A	G	A53866876G	PCDH15	NM_001384140.1(PCDH15):c.3502-19T>C	noncoding	Benign/Likely_benign
10	53903013	C	G	C53903013G	PCDH15	NM_001384140.1(PCDH15):c.3501+230G>C	noncoding	Benign
10	53903034	T	A	T53903034A	PCDH15	NM_001384140.1(PCDH15):c.3501+209A>T	noncoding	Benign
10	53903036	C	T	C53903036T	PCDH15	NM_001384140.1(PCDH15):c.3501+207G>A	noncoding	Benign
10	53903311	G	A	G53903311A	PCDH15	NM_001384140.1(PCDH15):c.3433C>T:p.Gln1145Ter	coding	Pathogenic
10	53903504	C	T	C53903504T	PCDH15	NM_001384140.1(PCDH15):c.3374-134G>A	noncoding	Benign
10	53938602	C	T	C53938602T	PCDH15	NM_001384140.1(PCDH15):c.3373+213G>A	noncoding	Benign
10	53941157	A	G	A53941157G	PCDH15	NM_001384140.1(PCDH15):c.3123-182T>C	noncoding	Benign
10	53959546	C	T	C53959546T	PCDH15	NM_001384140.1(PCDH15):c.3122+186G>A	noncoding	Benign
10	53961458	G	A	G53961458A	PCDH15	NM_001384140.1(PCDH15):c.3009+294C>T	noncoding	Benign
10	53961463	T	C	T53961463C	PCDH15	NM_001384140.1(PCDH15):c.3009+289A>G	noncoding	Benign
10	54020008	G	A	G54020008A	PCDH15	NM_001384140.1(PCDH15):c.2751+184C>T	noncoding	Benign
10	54020313	A	T	A54020313T	PCDH15	NM_001384140.1(PCDH15):c.2630T>A:p.Leu877Ter	coding	Pathogenic
10	54020319	G	T	G54020319T	PCDH15	NM_001384140.1(PCDH15):c.2624C>A:p.Ser875Ter	coding	Pathogenic/Likely_pathogenic
10	54020593	G	C	G54020593C	PCDH15	NM_001384140.1(PCDH15):c.2527-177C>G	noncoding	Benign
10	54022905	A	G	A54022905G	PCDH15	NM_001384140.1(PCDH15):c.2513T>C:p.Ile838Thr	coding	Benign
10	54023231	C	T	C54023231T	PCDH15	NM_001384140.1(PCDH15):c.2221-34G>A	noncoding	Benign
10	54066710	A	G	A54066710G	PCDH15	NM_001384140.1(PCDH15):c.2220+47T>C	noncoding	Benign
10	54066765	G	A	G54066765A	PCDH15	NM_001384140.1(PCDH15):c.2212C>T:p.Gln738Ter	coding	Pathogenic
10	54067033	A	T	A54067033T	PCDH15	NM_001384140.1(PCDH15):c.2092-148T>A	noncoding	Benign
10	54067053	G	A	G54067053A	PCDH15	NM_001384140.1(PCDH15):c.2092-168C>T	noncoding	Benign
10	54079102	G	A	G54079102A	PCDH15	NM_001384140.1(PCDH15):c.2091+229C>T	noncoding	Benign
10	54089740	G	A	G54089740A	PCDH15	NM_001384140.1(PCDH15):c.1997+244C>T	noncoding	Benign
10	54089815	T	C	T54089815C	PCDH15	NM_001384140.1(PCDH15):c.1997+169A>G	noncoding	Benign
10	54089852	A	C	A54089852C	PCDH15	NM_001384140.1(PCDH15):c.1997+132T>G	noncoding	Benign
10	54090228	G	A	G54090228A	PCDH15	NM_001384140.1(PCDH15):c.1918-165C>T	noncoding	Benign
10	54132629	T	G	T54132629G	PCDH15	NM_001384140.1(PCDH15):c.1917+246A>C	noncoding	Benign
10	54132877	G	A	G54132877A	PCDH15	NM_001384140.1(PCDH15):c.1915C>T:p.Gln639Ter	coding	Pathogenic/Likely_pathogenic
10	54132961	G	A	G54132961A	PCDH15	NM_001384140.1(PCDH15):c.1831C>T:p.Gln611Ter	coding	Pathogenic
10	54152932	T	C	T54152932C	PCDH15	NM_001384140.1(PCDH15):c.1784+168A>G	noncoding	Benign
10	54152972	G	A	G54152972A	PCDH15	NM_001384140.1(PCDH15):c.1784+128C>T	noncoding	Benign
10	54153231	C	T	C54153231T	PCDH15	NM_001384140.1(PCDH15):c.1653G>A:p.Gly551=	coding	Benign/Likely_benign
10	54183127	A	C	A54183127C	PCDH15	NM_001384140.1(PCDH15):c.1590+317T>G	noncoding	Benign
10	54183130	C	T	C54183130T	PCDH15	NM_001384140.1(PCDH15):c.1590+314G>A	noncoding	Benign
10	54183429	T	C	T54183429C	PCDH15	NM_001384140.1(PCDH15):c.1590+15A>G	noncoding	Benign/Likely_benign
10	54183572	G	A	G54183572A	PCDH15	NM_001384140.1(PCDH15):c.1462C>T:p.Gln488Ter	coding	Pathogenic
10	54183594	C	A	C54183594A	PCDH15	NM_001384140.1(PCDH15):c.1441-1G>T	coding	Pathogenic
10	54183913	C	A	C54183913A	PCDH15	NM_001384140.1(PCDH15):c.1441-320G>T	noncoding	Benign
10	54185175	G	A	G54185175A	PCDH15	NM_001384140.1(PCDH15):c.1399C>T:p.Gln467Ter	coding	Pathogenic
10	54185471	A	G	A54185471G	PCDH15	NM_001384140.1(PCDH15):c.1306-203T>C	noncoding	Benign
10	54189045	T	C	T54189045C	PCDH15	NM_001384140.1(PCDH15):c.1306-3777A>G	noncoding	Benign
10	54189630	G	T	G54189630T	PCDH15	NM_001384140.1(PCDH15):c.1306-4362C>A	noncoding	Benign
10	54195415	T	G	T54195415G	PCDH15	NM_001384140.1(PCDH15):c.1305+268A>C	noncoding	Benign
10	54214028	G	A	G54214028A	PCDH15	NM_001384140.1(PCDH15):c.1006C>T:p.Arg336Ter	coding	Pathogenic/Likely_pathogenic
10	54236596	T	C	T54236596C	PCDH15	NM_001384140.1(PCDH15):c.985+227A>G	noncoding	Benign
10	54236995	C	T	C54236995T	PCDH15	NM_001384140.1(PCDH15):c.877-64G>A	noncoding	Benign
10	54237248	C	G	C54237248G	PCDH15	NM_001384140.1(PCDH15):c.877-317G>C	noncoding	Benign
10	54316859	C	G	C54316859G	PCDH15	NM_001384140.1(PCDH15):c.876+412G>C	noncoding	Benign
10	54316910	T	G	T54316910G	PCDH15	NM_001384140.1(PCDH15):c.876+361A>C	noncoding	Benign
10	54317137	C	T	C54317137T	PCDH15	NM_001384140.1(PCDH15):c.876+134G>A	noncoding	Benign
10	54317215	A	C	A54317215C	PCDH15	NM_001384140.1(PCDH15):c.876+56T>G	noncoding	Benign
10	54317472	T	C	T54317472C	PCDH15	NM_001384140.1(PCDH15):c.706-31A>G	noncoding	Benign
10	54329503	G	A	G54329503A	PCDH15	NM_001384140.1(PCDH15):c.705+93C>T	noncoding	Benign
10	54346133	T	C	T54346133C	PCDH15	NM_001384140.1(PCDH15):c.594+232A>G	noncoding	Benign
10	54346783	C	T	C54346783T	PCDH15	NM_001384140.1(PCDH15):c.475-299G>A	noncoding	Benign
10	54346827	C	T	C54346827T	PCDH15	NM_001384140.1(PCDH15):c.475-343G>A	noncoding	Benign
10	54368937	T	C	T54368937C	PCDH15	NM_001384140.1(PCDH15):c.474+183A>G	noncoding	Benign
10	54369193	C	T	C54369193T	PCDH15	NM_001384140.1(PCDH15):c.401G>A:p.Arg134Gln	coding	Pathogenic
10	54369194	G	A	G54369194A	PCDH15	NM_001384140.1(PCDH15):c.400C>T:p.Arg134Ter	coding	Pathogenic/Likely_pathogenic
10	54486431	C	G	C54486431G	PCDH15	NM_001384140.1(PCDH15):c.157+41381G>C	noncoding	Benign
10	54527614	T	G	T54527614G	PCDH15	NM_001384140.1(PCDH15):c.157+198A>C	noncoding	Benign
10	54527737	C	T	C54527737T	PCDH15	NM_001384140.1(PCDH15):c.157+75G>A	noncoding	Benign
10	54527929	A	C	A54527929C	PCDH15	NM_001384140.1(PCDH15):c.92-52T>G	noncoding	Benign
10	54528042	C	T	C54528042T	PCDH15	NM_001384140.1(PCDH15):c.92-165G>A	noncoding	Benign
10	54528321	G	A	G54528321A	PCDH15	NM_001384140.1(PCDH15):c.92-444C>T	noncoding	Benign
10	58386035	T	A	T58386035A	TFAM	NM_003201.3(TFAM):c.102-185T>A	noncoding	Benign
10	58386301	T	C	T58386301C	TFAM	NM_003201.3(TFAM):c.183T>C:p.Ser61=	coding	Benign
10	58389033	A	G	A58389033G	TFAM	NM_003201.3(TFAM):c.441+214A>G	noncoding	Benign
10	58390685	A	G	A58390685G	TFAM	NM_003201.3(TFAM):c.442-80A>G	noncoding	Benign
10	58394425	C	T	C58394425T	TFAM	NM_003201.3(TFAM):c.594+11C>T	noncoding	Benign
10	58394453	G	A	G58394453A	TFAM	NM_003201.3(TFAM):c.594+39G>A	noncoding	Benign
10	58395360	G	T	G58395360T	TFAM	NM_003201.3(TFAM):c.*286G>T	noncoding	Benign
10	58512948	T	C	T58512948C	BICC1	NM_001080512.3(BICC1):c.-196T>C	noncoding	Benign
10	58513093	G	A	G58513093A	BICC1	NM_001080512.3(BICC1):c.-51G>A	noncoding	Benign
10	58513361	T	C	T58513361C	BICC1	NM_001080512.3(BICC1):c.190+28T>C	noncoding	Benign
10	58513395	C	A	C58513395A	BICC1	NM_001080512.3(BICC1):c.190+62C>A	noncoding	Benign
10	58620793	C	T	C58620793T	BICC1	NM_001080512.3(BICC1):c.191-62C>T	noncoding	Benign
10	58702336	C	G	C58702336G	BICC1	NM_001080512.3(BICC1):c.307+193C>G	noncoding	Benign
10	58785285	C	T	C58785285T	BICC1	NM_001080512.3(BICC1):c.387+205C>T	noncoding	Benign
10	58785301	C	A	C58785301A	BICC1	NM_001080512.3(BICC1):c.387+221C>A	noncoding	Benign
10	58788516	G	A	G58788516A	BICC1	NM_001080512.3(BICC1):c.600+93G>A	noncoding	Benign
10	58789298	A	G	A58789298G	BICC1	NM_001080512.3(BICC1):c.637A>G:p.Ile213Val	coding	Benign
10	58789668	C	A	C58789668A	BICC1	NM_001080512.3(BICC1):c.796-14C>A	noncoding	Benign
10	58789924	A	G	A58789924G	BICC1	NM_001080512.3(BICC1):c.1038A>G:p.Gln346=	coding	Benign
10	58793501	G	A	G58793501A	BICC1	NM_001080512.3(BICC1):c.1065G>A:p.Val355=	coding	Benign/Likely_benign
10	58796099	A	G	A58796099G	BICC1	NM_001080512.3(BICC1):c.1180-241A>G	noncoding	Benign
10	58796530	T	C	T58796530C	BICC1	NM_001080512.3(BICC1):c.1366+4T>C	noncoding	Benign/Likely_benign
10	58796754	A	G	A58796754G	BICC1	NM_001080512.3(BICC1):c.1366+228A>G	noncoding	Benign
10	58796768	G	A	G58796768A	BICC1	NM_001080512.3(BICC1):c.1366+242G>A	noncoding	Benign
10	58798365	A	T	A58798365T	BICC1	NM_001080512.3(BICC1):c.1367-34A>T	noncoding	Benign
10	58799287	G	C	G58799287C	BICC1	NM_001080512.3(BICC1):c.1725+35G>C	noncoding	Benign
10	58800327	G	T	G58800327T	BICC1	NM_001080512.3(BICC1):c.1858+1G>T	coding	Pathogenic
10	58800574	G	C	G58800574C	BICC1	NM_001080512.3(BICC1):c.1858+248G>C	noncoding	Benign
10	58803108	C	T	C58803108T	BICC1	NM_001080512.3(BICC1):c.2047C>T:p.Leu683=	coding	Benign/Likely_benign
10	58803193	A	C	A58803193C	BICC1	NM_001080512.3(BICC1):c.2132A>C:p.Asn711Thr	coding	Benign/Likely_benign
10	58803302	G	C	G58803302C	BICC1	NM_001080512.3(BICC1):c.2181+60G>C	noncoding	Benign
10	58806377	G	A	G58806377A	BICC1	NM_001080512.3(BICC1):c.2182-207G>A	noncoding	Benign
10	58806493	A	G	A58806493G	BICC1	NM_001080512.3(BICC1):c.2182-91A>G	noncoding	Benign
10	58806713	A	G	A58806713G	BICC1	NM_001080512.3(BICC1):c.2221+90A>G	noncoding	Benign
10	58813852	G	A	G58813852A	BICC1	NM_001080512.3(BICC1):c.2399G>A:p.Arg800Gln	coding	Benign/Likely_benign
10	58813993	G	T	G58813993T	BICC1	NM_001080512.3(BICC1):c.2533+7G>T	noncoding	Benign
10	58817496	C	T	C58817496T	BICC1	NM_001080512.3(BICC1):c.2534-66C>T	noncoding	Benign
10	58817633	T	C	T58817633C	BICC1	NM_001080512.3(BICC1):c.2605T>C:p.Leu869=	coding	Benign
10	58817636	A	G	A58817636G	BICC1	NM_001080512.3(BICC1):c.2608A>G:p.Asn870Asp	coding	Benign/Likely_benign
10	58828705	G	A	G58828705A	BICC1	NM_001080512.3(BICC1):c.2795-56G>A	noncoding	Benign
10	58828715	T	C	T58828715C	BICC1	NM_001080512.3(BICC1):c.2795-46T>C	noncoding	Benign
10	58828793	T	C	T58828793C	BICC1	NM_001080512.3(BICC1):c.2827T>C:p.Ser943Pro	coding	Benign
10	58829190	G	T	G58829190T	BICC1	NM_001080512.3(BICC1):c.*299G>T	noncoding	Benign
10	60042584	C	A	C60042584A	ANK3	NM_020987.5(ANK3):c.*19+88G>T	noncoding	Benign
10	60042595	A	T	A60042595T	ANK3	NM_020987.5(ANK3):c.*19+77T>A	noncoding	Benign
10	60042616	A	T	A60042616T	ANK3	NM_020987.5(ANK3):c.*19+56T>A	noncoding	Benign
10	60042617	A	T	A60042617T	ANK3	NM_020987.5(ANK3):c.*19+55T>A	noncoding	Benign
10	60042792	A	T	A60042792T	ANK3	NM_020987.5(ANK3):c.13066-33T>A	noncoding	Benign
10	60042803	G	T	G60042803T	ANK3	NM_020987.5(ANK3):c.13066-44C>A	noncoding	Benign
10	60055638	C	T	C60055638T	ANK3	NM_020987.5(ANK3):c.13065+20G>A	noncoding	Benign/Likely_benign
10	60059291	T	G	T60059291G	ANK3	NM_020987.5(ANK3):c.12686+49A>C	noncoding	Benign
10	60059785	C	A	C60059785A	ANK3	NM_020987.5(ANK3):c.12596-355G>T	coding	Benign
10	60069196	G	A	G60069196A	ANK3	NM_020987.5(ANK3):c.11685C>T:p.Ser3895=	coding	Benign
10	60071513	T	C	T60071513C	ANK3	NM_020987.5(ANK3):c.9368A>G:p.Lys3123Arg	coding	Benign
10	60071532	T	C	T60071532C	ANK3	NM_020987.5(ANK3):c.9349A>G:p.Ile3117Val	coding	Benign
10	60071744	G	C	G60071744C	ANK3	NM_020987.5(ANK3):c.9137C>G:p.Thr3046Ser	coding	Benign
10	60071986	A	G	A60071986G	ANK3	NM_020987.5(ANK3):c.8895T>C:p.Ala2965=	coding	Benign
10	60072226	G	T	G60072226T	ANK3	NM_020987.5(ANK3):c.8655C>A:p.His2885Gln	coding	Benign
10	60072868	G	A	G60072868A	ANK3	NM_020987.5(ANK3):c.8013C>T:p.Ser2671=	coding	Benign
10	60073741	G	A	G60073741A	ANK3	NM_020987.5(ANK3):c.7140C>T:p.His2380=	coding	Benign
10	60074398	G	A	G60074398A	ANK3	NM_020987.5(ANK3):c.6483C>T:p.Val2161=	coding	Benign
10	60074815	G	A	G60074815A	ANK3	NM_020987.5(ANK3):c.6066C>T:p.Ala2022=	coding	Benign
10	60080589	G	A	G60080589A	ANK3	NM_020987.5(ANK3):c.4380C>T:p.Phe1460=	coding	Benign
10	60082740	A	G	A60082740G	ANK3	NM_020987.5(ANK3):c.4201-3T>C	noncoding	Benign
10	60086897	A	G	A60086897G	ANK3	NM_020987.5(ANK3):c.3541-13T>C	noncoding	Benign
10	60108958	C	A	C60108958A	ANK3	NM_020987.5(ANK3):c.3045G>T:p.Thr1015=	coding	Benign
10	60134272	T	G	T60134272G	ANK3	NM_020987.5(ANK3):c.2840A>C:p.Gln947Pro	coding	Benign
10	60139080	A	T	A60139080T	ANK3	NM_020987.5(ANK3):c.2622T>A:p.Asp874Glu	coding	Benign
10	60166640	A	G	A60166640G	ANK3	NM_020987.5(ANK3):c.2565T>C:p.Asn855=	coding	Benign
10	60166970	A	G	A60166970G	ANK3	NM_020987.5(ANK3):c.2479-74T>C	noncoding	Benign
10	60173171	G	A	G60173171A	ANK3	NM_020987.5(ANK3):c.2200C>T:p.Leu734=	coding	Benign/Likely_benign
10	60181389	A	G	A60181389G	ANK3	NM_020987.5(ANK3):c.2124T>C:p.Asp708=	coding	Benign/Likely_benign
10	60205867	A	G	A60205867G	ANK3	NM_020987.5(ANK3):c.1218T>C:p.Ile406=	coding	Benign
10	60263907	C	T	C60263907T	ANK3	NM_020987.5(ANK3):c.627G>A:p.Ala209=	coding	Benign
10	60278786	A	G	A60278786G	ANK3	NM_020987.5(ANK3):c.402T>C:p.Asn134=	coding	Benign
10	60279647	A	C	A60279647C	ANK3	NM_020987.5(ANK3):c.115-8T>G	noncoding	Benign
10	60389406	C	T	C60389406T	ANK3	NM_020987.5(ANK3):c.114+19G>A	noncoding	Benign
10	61901581	T	C	T61901581C	ARID5B	Single_allele	noncoding	Benign
10	62376992	G	C	G62376992C	ZNF365	NM_014951.3(ZNF365):c.743+56G>C	noncoding	Benign
10	62377116	C	T	C62377116T	ZNF365	NM_014951.3(ZNF365):c.743+180C>T	noncoding	Benign
10	62388366	C	A	C62388366A	ZNF365	NM_014951.3(ZNF365):c.744-30C>A	noncoding	Benign
10	62388610	A	G	A62388610G	ZNF365	NM_014951.3(ZNF365):c.924+34A>G	noncoding	Benign
10	62398987	A	G	A62398987G	ZNF365	NM_014951.3(ZNF365):c.962+210A>G	noncoding	Benign
10	62399574	G	T	G62399574T	ZNF365	NM_014951.3(ZNF365):c.1009G>T:p.Ala337Ser	coding	Benign
10	62459537	C	A	C62459537A	ZNF365	NM_199450.3(ZNF365):c.925-204C>A	noncoding	Benign
10	62479950	A	G	A62479950G	ZNF365	NM_199450.3(ZNF365):c.*54A>G	coding	Benign
10	62479987	A	G	A62479987G	ZNF365	NM_199450.3(ZNF365):c.*91A>G	coding	Benign
10	62622902	G	A	G62622902A	ZNF365	Single_allele	noncoding	Benign
10	62655271	G	A	G62655271A	ZNF365	Single_allele	noncoding	Benign
10	62655653	T	A	T62655653A	ZNF365	Single_allele	noncoding	Benign
10	62656530	A	G	A62656530G	ZNF365	Single_allele	noncoding	Benign
10	62666038	C	T	C62666038T	ZNF365	Single_allele	noncoding	Benign
10	62666296	G	T	G62666296T	ZNF365	Single_allele	noncoding	Benign
10	62670472	C	A	C62670472A	ZNF365	Single_allele	noncoding	Benign
10	62813403	T	C	T62813403C	EGR2	NM_000399.5(EGR2):c.1235A>G:p.Glu412Gly	coding	Pathogenic
10	62813406	T	C	T62813406C	EGR2	NM_000399.5(EGR2):c.1232A>G:p.Asp411Gly	coding	Pathogenic
10	62813486	G	T	G62813486T	EGR2	NM_000399.5(EGR2):c.1152C>A:p.His384Gln	coding	Pathogenic
10	62813572	C	T	C62813572T	EGR2	NM_000399.5(EGR2):c.1066G>A:p.Glu356Lys	coding	Pathogenic/Likely_pathogenic
10	62814011	T	C	T62814011C	EGR2	NM_000399.5(EGR2):c.627A>G:p.Pro209=	coding	Benign/Likely_benign
10	62814464	G	A	G62814464A	EGR2	NM_000399.5(EGR2):c.174C>T:p.Gly58=	coding	Benign/Likely_benign
10	62818723	C	T	C62818723T	EGR2	NM_001410931.1(EGR2):c.-84G>A	noncoding	Benign
10	62819228	A	G	A62819228G	EGR2	Single_allele	noncoding	Benign
10	62819299	C	T	C62819299T	EGR2	Single_allele	noncoding	Benign
10	63168063	C	G	C63168063G	JMJD1C	NM_032776.3(JMJD1C):c.7605G>C:p.Glu2535Asp	coding	Benign
10	63176284	A	G	A63176284G	JMJD1C	NM_032776.3(JMJD1C):c.7401+13T>C	noncoding	Benign
10	63177773	G	C	G63177773C	JMJD1C	NM_032776.3(JMJD1C):c.7168C>G:p.Leu2390Val	coding	Benign
10	63185604	G	A	G63185604A	JMJD1C	NM_032776.3(JMJD1C):c.6789C>T:p.Asp2263=	coding	Benign
10	63186330	C	T	C63186330T	JMJD1C	NM_032776.3(JMJD1C):c.6624G>A:p.Ala2208=	coding	Benign
10	63186398	A	G	A63186398G	JMJD1C	NM_032776.3(JMJD1C):c.6571-15T>C	noncoding	Benign
10	63192987	C	A	C63192987A	JMJD1C	NM_032776.3(JMJD1C):c.6027G>T:p.Leu2009=	coding	Benign
10	63200461	C	A	C63200461A	JMJD1C	NM_032776.3(JMJD1C):c.5276+15G>T	noncoding	Benign
10	63200481	A	G	A63200481G	JMJD1C	NM_032776.3(JMJD1C):c.5271T>C:p.Phe1757=	coding	Benign
10	63207310	T	C	T63207310C	JMJD1C	NM_032776.3(JMJD1C):c.4359A>G:p.Thr1453=	coding	Benign
10	63207685	A	T	A63207685T	JMJD1C	NM_032776.3(JMJD1C):c.3984T>A:p.Arg1328=	coding	Benign
10	63207952	A	G	A63207952G	JMJD1C	NM_032776.3(JMJD1C):c.3717T>C:p.Asn1239=	coding	Benign
10	63208081	T	A	T63208081A	JMJD1C	NM_032776.3(JMJD1C):c.3588A>T:p.Thr1196=	coding	Benign
10	63208381	T	C	T63208381C	JMJD1C	NM_032776.3(JMJD1C):c.3288A>G:p.Thr1096=	coding	Benign
10	63213653	C	T	C63213653T	JMJD1C	NM_032776.3(JMJD1C):c.2514G>A:p.Gln838=	coding	Benign
10	63213818	A	C	A63213818C	JMJD1C	NM_032776.3(JMJD1C):c.2349T>G:p.Thr783=	coding	Benign
10	63214777	A	T	A63214777T	JMJD1C	NM_032776.3(JMJD1C):c.1390T>A:p.Ser464Thr	coding	Benign
10	63465484	G	C	G63465484C	JMJD1C	NM_032776.3(JMJD1C):c.168+11C>G	coding	Benign
10	63465485	A	G	A63465485G	JMJD1C	NM_032776.3(JMJD1C):c.168+10T>C	coding	Benign
10	65920087	C	T	C65920087T	CTNNA3	NM_013266.4(CTNNA3):c.*243G>A	noncoding	Benign
10	65920628	A	C	A65920628C	CTNNA3	NM_013266.4(CTNNA3):c.2401-11T>G	noncoding	Benign
10	65920906	T	C	T65920906C	CTNNA3	NM_013266.4(CTNNA3):c.2401-289A>G	noncoding	Benign
10	65920910	C	A	C65920910A	CTNNA3	NM_013266.4(CTNNA3):c.2401-293G>T	noncoding	Benign
10	65966406	A	T	A65966406T	CTNNA3	NM_013266.4(CTNNA3):c.2400+206T>A	noncoding	Benign
10	65988532	C	T	C65988532T	CTNNA3	NM_013266.4(CTNNA3):c.2265+160G>A	noncoding	Benign
10	65988816	A	G	A65988816G	CTNNA3	NM_013266.4(CTNNA3):c.2160-19T>C	noncoding	Benign
10	66069293	T	C	T66069293C	CTNNA3	NM_013266.4(CTNNA3):c.2159+15A>G	noncoding	Benign
10	66069498	T	C	T66069498C	CTNNA3	NM_013266.4(CTNNA3):c.1978-9A>G	noncoding	Benign
10	66069787	C	T	C66069787T	CTNNA3	NM_013266.4(CTNNA3):c.1978-298G>A	noncoding	Benign
10	66103139	C	G	C66103139G	CTNNA3	NM_013266.4(CTNNA3):c.1977+18G>C	noncoding	Benign
10	66280567	C	T	C66280567T	CTNNA3	NM_013266.4(CTNNA3):c.1787G>A:p.Ser596Asn	coding	Benign
10	66378877	T	C	T66378877C	CTNNA3	NM_013266.4(CTNNA3):c.1732+275A>G	noncoding	Benign
10	66378964	T	C	T66378964C	CTNNA3	NM_013266.4(CTNNA3):c.1732+188A>G	noncoding	Benign
10	66379384	G	A	G66379384A	CTNNA3	NM_013266.4(CTNNA3):c.1532-32C>T	noncoding	Benign
10	66379631	C	G	C66379631G	CTNNA3	NM_013266.4(CTNNA3):c.1532-279G>C	noncoding	Benign
10	66520601	A	G	A66520601G	CTNNA3	NM_013266.4(CTNNA3):c.1531+16T>C	noncoding	Benign
10	66520726	C	T	C66520726T	CTNNA3	NM_013266.4(CTNNA3):c.1422G>A:p.Ala474=	coding	Benign
10	66521040	C	A	C66521040A	CTNNA3	NM_013266.4(CTNNA3):c.1375-267G>T	noncoding	Benign
10	66621863	T	C	T66621863C	CTNNA3	NM_013266.4(CTNNA3):c.1282-79A>G	noncoding	Benign
10	66747663	G	A	G66747663A	CTNNA3	NM_013266.4(CTNNA3):c.1281+18601C>T	noncoding	Benign
10	66766067	T	C	T66766067C	CTNNA3	NM_013266.4(CTNNA3):c.1281+197A>G	noncoding	Benign
10	66766091	T	C	T66766091C	CTNNA3	NM_013266.4(CTNNA3):c.1281+173A>G	noncoding	Benign
10	66766297	C	T	C66766297T	CTNNA3	NM_013266.4(CTNNA3):c.1248G>A:p.Ala416=	coding	Benign/Likely_benign
10	66775182	G	C	G66775182C	CTNNA3	NM_013266.4(CTNNA3):c.1128+262C>G	noncoding	Benign
10	67176856	G	A	G67176856A	CTNNA3	NM_013266.4(CTNNA3):c.1047+3461C>T	coding	Benign
10	67180535	C	T	C67180535T	CTNNA3	NM_013266.4(CTNNA3):c.844-15G>A	noncoding	Benign
10	67219284	T	C	T67219284C	CTNNA3	NM_013266.4(CTNNA3):c.843+323A>G	noncoding	Benign
10	67219443	T	A	T67219443A	CTNNA3	NM_013266.4(CTNNA3):c.843+164A>T	noncoding	Benign
10	67219585	C	G	C67219585G	CTNNA3	NM_013266.4(CTNNA3):c.843+22G>C	noncoding	Benign
10	67219590	T	C	T67219590C	CTNNA3	NM_013266.4(CTNNA3):c.843+17A>G	noncoding	Benign
10	67219921	A	T	A67219921T	CTNNA3	NM_013266.4(CTNNA3):c.580-51T>A	noncoding	Benign
10	67220095	G	A	G67220095A	CTNNA3	NM_013266.4(CTNNA3):c.580-225C>T	noncoding	Benign
10	67220170	C	A	C67220170A	CTNNA3	NM_013266.4(CTNNA3):c.580-300G>T	noncoding	Benign
10	67521536	C	T	C67521536T	CTNNA3	NM_013266.4(CTNNA3):c.579+306G>A	noncoding	Benign
10	67521737	C	G	C67521737G	CTNNA3	NM_013266.4(CTNNA3):c.579+105G>C	noncoding	Benign
10	67521827	A	C	A67521827C	CTNNA3	NM_013266.4(CTNNA3):c.579+15T>G	noncoding	Benign
10	67522122	A	G	A67522122G	CTNNA3	NM_013266.4(CTNNA3):c.460-161T>C	noncoding	Benign
10	67522283	G	A	G67522283A	CTNNA3	NM_013266.4(CTNNA3):c.460-322C>T	noncoding	Benign
10	67522285	A	C	A67522285C	CTNNA3	NM_013266.4(CTNNA3):c.460-324T>G	noncoding	Benign
10	67539434	C	T	C67539434T	CTNNA3	NM_013266.4(CTNNA3):c.459+69G>A	noncoding	Benign
10	67539960	A	G	A67539960G	CTNNA3	NM_013266.4(CTNNA3):c.293-291T>C	noncoding	Benign
10	67606621	A	G	A67606621G	CTNNA3	NM_013266.4(CTNNA3):c.292+236T>C	noncoding	Benign
10	67647197	A	G	A67647197G	CTNNA3	NM_013266.4(CTNNA3):c.99+218T>C	noncoding	Benign
10	67647404	G	A	G67647404A	CTNNA3	NM_013266.4(CTNNA3):c.99+11C>T	noncoding	Benign
10	67647750	A	C	A67647750C	CTNNA3	NM_013266.4(CTNNA3):c.-5-232T>G	noncoding	Benign
10	67647773	A	C	A67647773C	CTNNA3	NM_013266.4(CTNNA3):c.-5-255T>G	noncoding	Benign
10	67648553	C	T	C67648553T	CTNNA3	NM_013266.4(CTNNA3):c.-5-1035G>A	noncoding	Benign
10	67649046	T	C	T67649046C	CTNNA3	NM_013266.4(CTNNA3):c.-5-1528A>G	noncoding	Benign
10	67796974	T	C	T67796974C	DNAJC12	NM_021800.3(DNAJC12):c.*142A>G	noncoding	Benign
10	67797044	A	G	A67797044G	DNAJC12	NM_021800.3(DNAJC12):c.*72T>C	noncoding	Benign
10	67797487	A	G	A67797487G	DNAJC12	NM_021800.3(DNAJC12):c.503-277T>C	noncoding	Benign
10	67805451	T	C	T67805451C	DNAJC12	NM_021800.3(DNAJC12):c.502+132A>G	noncoding	Benign
10	67805469	A	G	A67805469G	DNAJC12	NM_021800.3(DNAJC12):c.502+114T>C	noncoding	Benign
10	67805532	A	G	A67805532G	DNAJC12	NM_021800.3(DNAJC12):c.502+51T>C	noncoding	Benign
10	67806053	C	T	C67806053T	DNAJC12	NM_021800.3(DNAJC12):c.298-266G>A	noncoding	Benign
10	67811506	A	C	A67811506C	DNAJC12	NM_021800.3(DNAJC12):c.297+18T>G	coding	Benign
10	67811578	G	A	G67811578A	DNAJC12	NM_021800.3(DNAJC12):c.243C>T:p.Ser81=	coding	Benign
10	67823179	T	C	T67823179C	DNAJC12	NM_021800.3(DNAJC12):c.157+135A>G	noncoding	Benign
10	67823448	G	A	G67823448A	DNAJC12	NM_021800.3(DNAJC12):c.79-56C>T	noncoding	Benign
10	67838028	G	A	G67838028A	DNAJC12	NM_021800.3(DNAJC12):c.-17C>T	noncoding	Benign
10	67838376	T	C	T67838376C	DNAJC12	Single_allele	noncoding	Benign
10	67884769	G	A	G67884769A	SIRT1	NM_012238.5(SIRT1):c.48G>A:p.Ser16=	coding	Benign
10	67884831	C	T	C67884831T	SIRT1	NM_012238.5(SIRT1):c.110C>T:p.Pro37Leu	coding	Benign
10	67885062	C	A	C67885062A	SIRT1	NM_012238.5(SIRT1):c.341C>A:p.Pro114Gln	coding	Benign
10	67891561	T	C	T67891561C	SIRT1	NM_012238.5(SIRT1):c.942+7T>C	noncoding	Benign
10	67906841	T	C	T67906841C	SIRT1	NM_012238.5(SIRT1):c.994T>C:p.Leu332=	coding	Benign
10	67908026	T	C	T67908026C	SIRT1	NM_012238.5(SIRT1):c.1091-20T>C	noncoding	Benign
10	68114079	G	A	G68114079A	MYPN	NM_032578.4(MYPN):c.-2+4356G>A	noncoding	Benign
10	68121325	C	T	C68121325T	MYPN	NM_032578.4(MYPN):c.-1-113C>T	noncoding	Benign
10	68121346	A	T	A68121346T	MYPN	NM_032578.4(MYPN):c.-1-92A>T	noncoding	Benign
10	68121394	C	T	C68121394T	MYPN	NM_032578.4(MYPN):c.-1-44C>T	noncoding	Benign
10	68122046	C	A	C68122046A	MYPN	NM_032578.4(MYPN):c.608C>A:p.Ser203Ter	coding	Pathogenic
10	68135463	A	G	A68135463G	MYPN	NM_032578.4(MYPN):c.903-7477A>G	coding	Benign
10	68136049	G	A	G68136049A	MYPN	NM_032578.4(MYPN):c.903-6891G>A	noncoding	Benign
10	68136670	A	G	A68136670G	MYPN	NM_032578.4(MYPN):c.903-6270A>G	coding	Benign
10	68142922	A	T	A68142922T	MYPN	NM_032578.4(MYPN):c.903-18A>T	noncoding	Benign/Likely_benign
10	68143162	T	C	T68143162C	MYPN	NM_032578.4(MYPN):c.1078+47T>C	noncoding	Benign
10	68143241	G	A	G68143241A	MYPN	NM_032578.4(MYPN):c.1078+126G>A	noncoding	Benign
10	68158575	T	A	T68158575A	MYPN	NM_032578.4(MYPN):c.1407T>A:p.Tyr469Ter	coding	Pathogenic
10	68166176	T	C	T68166176C	MYPN	NM_032578.4(MYPN):c.1601-118T>C	noncoding	Benign
10	68166355	A	C	A68166355C	MYPN	NM_032578.4(MYPN):c.1662A>C:p.Ala554=	coding	Benign/Likely_benign
10	68174082	C	T	C68174082T	MYPN	NM_032578.4(MYPN):c.1990C>T:p.Gln664Ter	coding	Pathogenic
10	68175302	A	G	A68175302G	MYPN	NM_032578.4(MYPN):c.2565-21A>G	noncoding	Benign
10	68175447	A	T	A68175447T	MYPN	NM_032578.4(MYPN):c.2689A>T:p.Arg897Ter	coding	Pathogenic
10	68175481	A	C	A68175481C	MYPN	NM_032578.4(MYPN):c.2703+20A>C	noncoding	Benign
10	68188888	G	A	G68188888A	MYPN	NM_032578.4(MYPN):c.2704-17G>A	noncoding	Benign
10	68188892	G	A	G68188892A	MYPN	NM_032578.4(MYPN):c.2704-13G>A	noncoding	Benign
10	68188910	C	G	C68188910G	MYPN	NM_032578.4(MYPN):c.2709C>G:p.Tyr903Ter	coding	Pathogenic
10	68194423	C	T	C68194423T	MYPN	NM_032578.4(MYPN):c.2986C>T:p.Arg996Ter	coding	Pathogenic
10	68197242	C	A	C68197242A	MYPN	NM_032578.4(MYPN):c.3159-110C>A	noncoding	Benign
10	68199581	G	T	G68199581T	MYPN	NM_032578.4(MYPN):c.3493+6G>T	noncoding	Benign/Likely_benign
10	68231342	G	A	G68231342A	ATOH7	NM_145178.4(ATOH7):c.336C>T:p.His112=	coding	Benign
10	68231474	G	A	G68231474A	ATOH7	NM_145178.4(ATOH7):c.204C>T:p.Pro68=	coding	Benign
10	68231485	T	C	T68231485C	ATOH7	NM_145178.4(ATOH7):c.193A>G:p.Arg65Gly	coding	Benign
10	68231862	T	C	T68231862C	ATOH7	NM_145178.4(ATOH7):c.-185A>G	noncoding	Benign
10	68231911	G	A	G68231911A	ATOH7	NM_145178.4(ATOH7):c.-234C>T	noncoding	Benign
10	68231992	T	G	T68231992G	ATOH7	NM_145178.4(ATOH7):c.-315A>C	noncoding	Benign
10	68232096	A	G	A68232096G	ATOH7	NM_145178.4(ATOH7):c.-419T>C	noncoding	Benign
10	68414950	T	A	T68414950A	DNA2	NM_001080449.3(DNA2):c.*89A>T	noncoding	Benign
10	68415128	A	G	A68415128G	DNA2	NM_001080449.3(DNA2):c.3115-21T>C	noncoding	Benign
10	68419884	C	T	C68419884T	DNA2	NM_001080449.3(DNA2):c.2706G>A:p.Ala902=	coding	Benign/Likely_benign
10	68419956	C	G	C68419956G	DNA2	NM_001080449.3(DNA2):c.2698-64G>C	noncoding	Benign
10	68419989	T	G	T68419989G	DNA2	NM_001080449.3(DNA2):c.2698-97A>C	noncoding	Benign
10	68422207	A	G	A68422207G	DNA2	NM_001080449.3(DNA2):c.2697+18T>C	noncoding	Benign/Likely_benign
10	68430398	A	G	A68430398G	DNA2	NM_001080449.3(DNA2):c.2208+38T>C	noncoding	Benign
10	68430491	C	A	C68430491A	DNA2	NM_001080449.3(DNA2):c.2153G>T:p.Cys718Phe	coding	Benign/Likely_benign
10	68442909	C	T	C68442909T	DNA2	NM_001080449.3(DNA2):c.1415+8G>A	noncoding	Benign
10	68444739	A	G	A68444739G	DNA2	NM_001080449.3(DNA2):c.1220+182T>C	noncoding	Benign
10	68449891	A	G	A68449891G	DNA2	NM_001080449.3(DNA2):c.939+137T>C	noncoding	Benign
10	68450247	C	A	C68450247A	DNA2	NM_001080449.3(DNA2):c.720G>T:p.Leu240=	coding	Benign/Likely_benign
10	68459144	T	C	T68459144C	DNA2	NM_001080449.3(DNA2):c.679A>G:p.Lys227Glu	coding	Pathogenic
10	68459230	C	T	C68459230T	DNA2	NM_001080449.3(DNA2):c.593G>A:p.Arg198His	coding	Pathogenic
10	68468108	G	A	G68468108A	DNA2	NM_001080449.3(DNA2):c.441+15C>T	noncoding	Benign/Likely_benign
10	68468307	C	A	C68468307A	DNA2	NM_001080449.3(DNA2):c.258-1G>T	coding	Pathogenic
10	68471778	C	G	C68471778G	DNA2	NM_001080449.3(DNA2):c.74+13G>C	noncoding	Benign/Likely_benign
10	68471944	A	G	A68471944G	DNA2	NM_001080449.3(DNA2):c.-80T>C	noncoding	Benign
10	68645480	G	A	G68645480A	TET1	NM_030625.3(TET1):c.2751G>A:p.Glu917=	coding	Benign
10	68885620	A	C	A68885620C	STOX1	NM_152709.5(STOX1):c.1824A>C:p.Glu608Asp	coding	Benign
10	69005336	G	T	G69005336T	KIFBP	NM_015634.4(KIFBP):c.605+211G>T	noncoding	Benign
10	69005600	C	T	C69005600T	KIFBP	NM_015634.4(KIFBP):c.606-132C>T	noncoding	Benign
10	69005915	G	A	G69005915A	KIFBP	NM_015634.4(KIFBP):c.789G>A:p.Lys263=	coding	Benign
10	69008846	C	A	C69008846A	KIFBP	NM_015634.4(KIFBP):c.795C>A:p.Cys265Ter	coding	Pathogenic
10	69011084	G	A	G69011084A	KIFBP	NM_015634.4(KIFBP):c.990+69G>A	noncoding	Benign
10	69015380	G	C	G69015380C	KIFBP	NM_015634.4(KIFBP):c.991-161G>C	noncoding	Benign
10	69016085	C	G	C69016085G	KIFBP	NM_015634.4(KIFBP):c.1535C>G:p.Ser512Ter	coding	Pathogenic
10	69227316	C	T	C69227316T	HKDC1	NM_025130.4(HKDC1):c.173C>T:p.Thr58Met	coding	Pathogenic
10	69288762	C	T	C69288762T	HK1	NM_001358263.1(HK1):c.19C>T:p.Arg7Ter	coding	Pathogenic
10	69292327	C	T	C69292327T	HK1	NM_001358263.1(HK1):c.28-3306C>T	noncoding	Benign
10	69295696	T	C	T69295696C	HK1	NM_001358263.1(HK1):c.75+16T>C	noncoding	Benign/Likely_benign
10	69295703	T	C	T69295703C	HK1	NM_001358263.1(HK1):c.75+23T>C	noncoding	Benign
10	69300878	G	A	G69300878A	HK1	NM_001358263.1(HK1):c.75+5198G>A	noncoding	Benign
10	69360042	C	T	C69360042T	HK1	NM_000188.3(HK1):c.372C>T:p.Ser124=	coding	Benign
10	69360064	C	T	C69360064T	HK1	NM_000188.3(HK1):c.375+19C>T	noncoding	Benign/Likely_benign
10	69369349	C	T	C69369349T	HK1	NM_000188.3(HK1):c.691+13C>T	noncoding	Benign/Likely_benign
10	69380070	G	A	G69380070A	HK1	NM_000188.3(HK1):c.1240G>A:p.Gly414Arg	coding	Pathogenic
10	69382474	C	T	C69382474T	HK1	NM_000188.3(HK1):c.1266-13C>T	noncoding	Benign
10	69382568	C	T	C69382568T	HK1	NM_000188.3(HK1):c.1347C>T:p.Ser449=	coding	Benign
10	69384315	C	T	C69384315T	HK1	NM_000188.3(HK1):c.1571-18C>T	noncoding	Benign
10	69384500	A	G	A69384500G	HK1	NM_000188.3(HK1):c.1719+19A>G	noncoding	Benign
10	69384914	C	T	C69384914T	HK1	NM_000188.3(HK1):c.1838C>T:p.Ala613Val	coding	Benign
10	69384946	G	A	G69384946A	HK1	NM_000188.3(HK1):c.1839+31G>A	noncoding	Benign
10	69392335	T	C	T69392335C	HK1	NM_000188.3(HK1):c.2219+27T>C	noncoding	Benign
10	69400978	T	A	T69400978A	HK1	NM_000188.3(HK1):c.2610-13T>A	noncoding	Benign
10	69572492	G	A	G69572492A	NEUROG3	NM_020999.4(NEUROG3):c.552C>T:p.Pro184=	coding	Benign
10	69572673	G	C	G69572673C	NEUROG3	NM_020999.4(NEUROG3):c.371C>G:p.Thr124Arg	coding	Pathogenic
10	69572760	C	G	C69572760G	NEUROG3	NM_020999.4(NEUROG3):c.284G>C:p.Arg95Pro	coding	Pathogenic
10	69573350	G	C	G69573350C	NEUROG3	NM_020999.4(NEUROG3):c.-142C>G	noncoding	Benign
10	69802014	G	A	G69802014A	COL13A1	NM_001368882.1(COL13A1):c.-410G>A	noncoding	Benign
10	69802338	C	T	C69802338T	COL13A1	NM_001368882.1(COL13A1):c.-86C>T	noncoding	Benign
10	69802681	G	A	G69802681A	COL13A1	NM_001368882.1(COL13A1):c.258G>A:p.Thr86=	coding	Benign
10	69802712	G	T	G69802712T	COL13A1	NM_001368882.1(COL13A1):c.289G>T:p.Asp97Tyr	coding	Benign
10	69802981	G	A	G69802981A	COL13A1	NM_001368882.1(COL13A1):c.294+264G>A	noncoding	Benign
10	69822615	G	A	G69822615A	COL13A1	NM_001368882.1(COL13A1):c.364+177G>A	noncoding	Benign
10	69822699	G	A	G69822699A	COL13A1	NM_001368882.1(COL13A1):c.364+261G>A	noncoding	Benign
10	69824001	C	T	C69824001T	COL13A1	NM_001368882.1(COL13A1):c.364+1563C>T	noncoding	Benign
10	69867501	C	T	C69867501T	COL13A1	NM_001368882.1(COL13A1):c.365-297C>T	noncoding	Benign
10	69872449	G	A	G69872449A	COL13A1	NM_001368882.1(COL13A1):c.399+239G>A	noncoding	Benign
10	69872462	C	T	C69872462T	COL13A1	NM_001368882.1(COL13A1):c.399+252C>T	noncoding	Benign
10	69874883	A	G	A69874883G	COL13A1	NM_001368882.1(COL13A1):c.400-245A>G	noncoding	Benign
10	69875213	G	A	G69875213A	COL13A1	NM_001368882.1(COL13A1):c.435+50G>A	noncoding	Benign
10	69875230	A	T	A69875230T	COL13A1	NM_001368882.1(COL13A1):c.435+67A>T	noncoding	Benign
10	69875318	G	C	G69875318C	COL13A1	NM_001368882.1(COL13A1):c.435+155G>C	noncoding	Benign
10	69875456	C	T	C69875456T	COL13A1	NM_001368882.1(COL13A1):c.435+293C>T	noncoding	Benign
10	69880294	T	C	T69880294C	COL13A1	NM_001368882.1(COL13A1):c.463-209T>C	noncoding	Benign
10	69880499	G	A	G69880499A	COL13A1	NM_001368882.1(COL13A1):c.463-4G>A	noncoding	Benign
10	69880735	C	T	C69880735T	COL13A1	NM_001368882.1(COL13A1):c.513+182C>T	noncoding	Benign
10	69887300	C	T	C69887300T	COL13A1	NM_001368882.1(COL13A1):c.514-156C>T	noncoding	Benign
10	69887413	C	T	C69887413T	COL13A1	NM_001368882.1(COL13A1):c.514-43C>T	noncoding	Benign
10	69887467	A	C	A69887467C	COL13A1	NM_001368882.1(COL13A1):c.525A>C:p.Gly175=	coding	Benign
10	69887542	G	A	G69887542A	COL13A1	NM_001368882.1(COL13A1):c.549+51G>A	noncoding	Benign
10	69888022	A	G	A69888022G	COL13A1	NM_001368882.1(COL13A1):c.550-282A>G	noncoding	Benign
10	69888246	C	T	C69888246T	COL13A1	NM_001368882.1(COL13A1):c.550-58C>T	noncoding	Benign
10	69888309	C	T	C69888309T	COL13A1	NM_001368882.1(COL13A1):c.555C>T:p.Pro185=	coding	Benign
10	69888560	C	T	C69888560T	COL13A1	NM_001368882.1(COL13A1):c.576+230C>T	noncoding	Benign
10	69888618	G	A	G69888618A	COL13A1	NM_001368882.1(COL13A1):c.576+288G>A	noncoding	Benign
10	69889109	C	T	C69889109T	COL13A1	NM_001368882.1(COL13A1):c.577-305C>T	noncoding	Benign
10	69889290	G	A	G69889290A	COL13A1	NM_001368882.1(COL13A1):c.577-124G>A	noncoding	Benign
10	69889454	T	C	T69889454C	COL13A1	NM_001368882.1(COL13A1):c.603+14T>C	noncoding	Benign
10	69889458	C	T	C69889458T	COL13A1	NM_001368882.1(COL13A1):c.603+18C>T	noncoding	Benign
10	69889553	A	G	A69889553G	COL13A1	NM_001368882.1(COL13A1):c.603+113A>G	noncoding	Benign
10	69889706	T	G	T69889706G	COL13A1	NM_001368882.1(COL13A1):c.603+266T>G	noncoding	Benign
10	69894250	C	G	C69894250G	COL13A1	NM_001368882.1(COL13A1):c.604-302C>G	noncoding	Benign
10	69894563	T	C	T69894563C	COL13A1	NM_001368882.1(COL13A1):c.615T>C:p.Gly205=	coding	Benign
10	69894656	C	T	C69894656T	COL13A1	NM_001368882.1(COL13A1):c.631-19C>T	noncoding	Benign
10	69894846	G	A	G69894846A	COL13A1	NM_001368882.1(COL13A1):c.657+145G>A	noncoding	Benign
10	69895567	C	G	C69895567G	COL13A1	NM_001368882.1(COL13A1):c.675C>G:p.Tyr225Ter	coding	Pathogenic
10	69895687	G	A	G69895687A	COL13A1	NM_001368882.1(COL13A1):c.684+111G>A	noncoding	Benign
10	69897284	G	A	G69897284A	COL13A1	NM_001368882.1(COL13A1):c.685-1413G>A	noncoding	Benign
10	69897516	A	G	A69897516G	COL13A1	NM_001368882.1(COL13A1):c.685-1181A>G	coding	Benign
10	69897549	G	A	G69897549A	COL13A1	NM_001368882.1(COL13A1):c.685-1148G>A	noncoding	Benign
10	69897733	A	G	A69897733G	COL13A1	NM_001368882.1(COL13A1):c.685-964A>G	noncoding	Benign
10	69898756	G	A	G69898756A	COL13A1	NM_001368882.1(COL13A1):c.744G>A:p.Thr248=	coding	Benign
10	69902602	C	T	C69902602T	COL13A1	NM_001368882.1(COL13A1):c.751-146C>T	noncoding	Benign
10	69903027	G	T	G69903027T	COL13A1	NM_001368882.1(COL13A1):c.858+172G>T	noncoding	Benign
10	69903087	C	T	C69903087T	COL13A1	NM_001368882.1(COL13A1):c.858+232C>T	noncoding	Benign
10	69903093	T	C	T69903093C	COL13A1	NM_001368882.1(COL13A1):c.858+238T>C	noncoding	Benign
10	69905665	T	C	T69905665C	COL13A1	NM_001368882.1(COL13A1):c.886-122T>C	noncoding	Benign
10	69905920	G	C	G69905920C	COL13A1	NM_001368882.1(COL13A1):c.921+98G>C	noncoding	Benign
10	69916994	G	A	G69916994A	COL13A1	NM_001368882.1(COL13A1):c.922-295G>A	noncoding	Benign
10	69917505	C	T	C69917505T	COL13A1	NM_001368882.1(COL13A1):c.966+172C>T	noncoding	Benign
10	69918085	A	G	A69918085G	COL13A1	NM_001368882.1(COL13A1):c.967-200A>G	noncoding	Benign
10	69918241	C	T	C69918241T	COL13A1	NM_001368882.1(COL13A1):c.967-44C>T	noncoding	Benign
10	69918302	C	G	C69918302G	COL13A1	NM_001368882.1(COL13A1):c.984C>G:p.Ala328=	coding	Benign
10	69919323	C	T	C69919323T	COL13A1	NM_001368882.1(COL13A1):c.1026+235C>T	noncoding	Benign
10	69921774	C	A	C69921774A	COL13A1	NM_001368882.1(COL13A1):c.1090-108C>A	noncoding	Benign
10	69922010	A	G	A69922010G	COL13A1	NM_001368882.1(COL13A1):c.1143+75A>G	noncoding	Benign
10	69923817	G	T	G69923817T	COL13A1	NM_001368882.1(COL13A1):c.1246G>T:p.Asp416Tyr	coding	Benign
10	69924774	A	G	A69924774G	COL13A1	NM_001368882.1(COL13A1):c.1285-189A>G	noncoding	Benign
10	69925776	G	C	G69925776C	COL13A1	NM_001368882.1(COL13A1):c.1330-28G>C	noncoding	Benign
10	69925801	C	T	C69925801T	COL13A1	NM_001368882.1(COL13A1):c.1330-3C>T	noncoding	Benign
10	69926105	C	A	C69926105A	COL13A1	NM_001368882.1(COL13A1):c.1398+233C>A	noncoding	Benign
10	69926860	T	C	T69926860C	COL13A1	NM_001368882.1(COL13A1):c.1399-227T>C	noncoding	Benign
10	69926921	G	A	G69926921A	COL13A1	NM_001368882.1(COL13A1):c.1399-166G>A	noncoding	Benign
10	69929889	T	G	T69929889G	COL13A1	NM_001368882.1(COL13A1):c.1486-154T>G	noncoding	Benign
10	69930099	C	T	C69930099T	COL13A1	NM_001368882.1(COL13A1):c.1530+12C>T	noncoding	Benign
10	69930212	G	A	G69930212A	COL13A1	NM_001368882.1(COL13A1):c.1530+125G>A	noncoding	Benign
10	69930475	G	A	G69930475A	COL13A1	NM_001368882.1(COL13A1):c.1606G>A:p.Val536Met	coding	Benign
10	69930719	C	G	C69930719G	COL13A1	NM_001368882.1(COL13A1):c.1683+167C>G	noncoding	Benign
10	69930828	C	A	C69930828A	COL13A1	NM_001368882.1(COL13A1):c.1683+276C>A	noncoding	Benign
10	69932727	T	C	T69932727C	COL13A1	NM_001368882.1(COL13A1):c.1728+123T>C	noncoding	Benign
10	69932800	C	G	C69932800G	COL13A1	NM_001368882.1(COL13A1):c.1728+196C>G	noncoding	Benign
10	69935534	T	C	T69935534C	COL13A1	NM_001368882.1(COL13A1):c.1770+143T>C	noncoding	Benign
10	69936657	C	T	C69936657T	COL13A1	NM_001368882.1(COL13A1):c.1771-99C>T	noncoding	Benign
10	69937076	C	T	C69937076T	COL13A1	NM_001368882.1(COL13A1):c.1797+294C>T	noncoding	Benign
10	69937473	A	G	A69937473G	COL13A1	NM_001368882.1(COL13A1):c.1798-162A>G	noncoding	Benign
10	69937760	G	C	G69937760C	COL13A1	NM_001368882.1(COL13A1):c.1878+45G>C	noncoding	Benign
10	69937875	T	G	T69937875G	COL13A1	NM_001368882.1(COL13A1):c.1878+160T>G	noncoding	Benign
10	69944239	A	G	A69944239G	COL13A1	NM_001368882.1(COL13A1):c.1968+61A>G	noncoding	Benign
10	69952746	C	T	C69952746T	COL13A1	NM_001368882.1(COL13A1):c.2059-136C>T	noncoding	Benign
10	69953009	T	C	T69953009C	COL13A1	NM_001368882.1(COL13A1):c.2145+41T>C	noncoding	Benign
10	69953140	G	A	G69953140A	COL13A1	NM_001368882.1(COL13A1):c.2145+172G>A	noncoding	Benign
10	69956753	C	T	C69956753T	COL13A1	NM_001368882.1(COL13A1):c.2146-251C>T	noncoding	Benign
10	69956772	T	C	T69956772C	COL13A1	NM_001368882.1(COL13A1):c.2146-232T>C	noncoding	Benign
10	69956777	G	C	G69956777C	COL13A1	NM_001368882.1(COL13A1):c.2146-227G>C	noncoding	Benign
10	69956883	C	T	C69956883T	COL13A1	NM_001368882.1(COL13A1):c.2146-121C>T	noncoding	Benign
10	69956997	C	T	C69956997T	COL13A1	NM_001368882.1(COL13A1):c.2146-7C>T	noncoding	Benign
10	69958968	C	G	C69958968G	COL13A1	NM_001368882.1(COL13A1):c.*267C>G	noncoding	Benign
10	70433353	T	A	T70433353A	NODAL	NM_018055.5(NODAL):c.892-265A>T	noncoding	Benign
10	70435361	G	A	G70435361A	NODAL	NM_018055.5(NODAL):c.816C>T:p.Asn272=	coding	Benign
10	70435780	G	A	G70435780A	NODAL	NM_018055.5(NODAL):c.397C>T:p.Gln133Ter	coding	Pathogenic
10	70436088	T	G	T70436088G	NODAL	NM_018055.5(NODAL):c.194-105A>C	noncoding	Benign
10	70441215	C	A	C70441215A	NODAL	NM_018055.5(NODAL):c.193+260G>T	noncoding	Benign
10	70441776	A	G	A70441776G	NODAL	NM_001329906.2(NODAL):c.-206-5793T>C	noncoding	Benign
10	70598454	G	A	G70598454A	PRF1	NM_001083116.3(PRF1):c.1267C>T:p.Gln423Ter	coding	Pathogenic
10	70598493	G	A	G70598493A	PRF1	NM_001083116.3(PRF1):c.1228C>T:p.Arg410Trp	coding	Pathogenic
10	70598553	G	A	G70598553A	PRF1	NM_001083116.3(PRF1):c.1168C>T:p.Arg390Ter	coding	Pathogenic
10	70598705	A	C	A70598705C	PRF1	NM_001083116.3(PRF1):c.1016T>G:p.Val339Gly	coding	Pathogenic
10	70600282	G	A	G70600282A	PRF1	NM_001083116.3(PRF1):c.539+82C>T	noncoding	Benign
10	70600303	C	T	C70600303T	PRF1	NM_001083116.3(PRF1):c.539+61G>A	noncoding	Benign
10	70600402	G	C	G70600402C	PRF1	NM_001083116.3(PRF1):c.501C>G:p.Tyr167Ter	coding	Pathogenic
10	70600517	C	G	C70600517G	PRF1	NM_001083116.3(PRF1):c.386G>C:p.Trp129Ser	coding	Pathogenic/Likely_pathogenic
10	70600540	C	T	C70600540T	PRF1	NM_001083116.3(PRF1):c.363G>A:p.Ala121=	coding	Benign
10	70600900	C	T	C70600900T	PRF1	NM_001083116.3(PRF1):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
10	70600901	A	G	A70600901G	PRF1	NM_001083116.3(PRF1):c.2T>C:p.Met1Thr	coding	Pathogenic
10	70600902	T	C	T70600902C	PRF1	NM_001083116.3(PRF1):c.1A>G:p.Met1Val	coding	Pathogenic
10	70758253	A	G	A70758253G	ADAMTS14	NM_080722.4(ADAMTS14):c.3146A>G:p.Glu1049Gly	coding	Benign
10	70844506	G	T	G70844506T	SGPL1	NM_003901.4(SGPL1):c.61G>T:p.Val21Leu	coding	Benign
10	70851010	A	T	A70851010T	SGPL1	NM_003901.4(SGPL1):c.194-133A>T	noncoding	Benign
10	70854514	A	G	A70854514G	SGPL1	NM_003901.4(SGPL1):c.262-194A>G	noncoding	Benign
10	70854664	T	C	T70854664C	SGPL1	NM_003901.4(SGPL1):c.262-44T>C	noncoding	Benign
10	70854767	A	G	A70854767G	SGPL1	NM_003901.4(SGPL1):c.321A>G:p.Lys107=	coding	Benign
10	70857453	A	T	A70857453T	SGPL1	NM_003901.4(SGPL1):c.410-161A>T	noncoding	Benign
10	70857499	A	T	A70857499T	SGPL1	NM_003901.4(SGPL1):c.410-115A>T	noncoding	Benign
10	70859143	C	T	C70859143T	SGPL1	NM_003901.4(SGPL1):c.487-228C>T	noncoding	Benign
10	70859276	G	A	G70859276A	SGPL1	NM_003901.4(SGPL1):c.487-95G>A	noncoding	Benign
10	70859448	C	T	C70859448T	SGPL1	NM_003901.4(SGPL1):c.564C>T:p.Ile188=	coding	Benign
10	70859716	G	A	G70859716A	SGPL1	NM_003901.4(SGPL1):c.615+217G>A	noncoding	Benign
10	70868297	G	A	G70868297A	SGPL1	NM_003901.4(SGPL1):c.616-48G>A	noncoding	Benign
10	70869779	C	T	C70869779T	SGPL1	NM_003901.4(SGPL1):c.705-13C>T	noncoding	Benign
10	70869810	C	T	C70869810T	SGPL1	NM_003901.4(SGPL1):c.723C>T:p.Ala241=	coding	Benign
10	70869926	G	A	G70869926A	SGPL1	NM_003901.4(SGPL1):c.810+29G>A	noncoding	Benign
10	70871869	C	T	C70871869T	SGPL1	NM_003901.4(SGPL1):c.942C>T:p.Val314=	coding	Benign
10	70871920	C	G	C70871920G	SGPL1	NM_003901.4(SGPL1):c.993C>G:p.Tyr331Ter	coding	Pathogenic
10	70872003	A	T	A70872003T	SGPL1	NM_003901.4(SGPL1):c.1059+17A>T	noncoding	Benign
10	70872063	C	T	C70872063T	SGPL1	NM_003901.4(SGPL1):c.1059+77C>T	noncoding	Benign
10	70873338	A	T	A70873338T	SGPL1	NM_003901.4(SGPL1):c.1060-13A>T	noncoding	Benign
10	70873701	C	T	C70873701T	SGPL1	NM_003901.4(SGPL1):c.1298+112C>T	noncoding	Benign
10	70873745	C	T	C70873745T	SGPL1	NM_003901.4(SGPL1):c.1298+156C>T	noncoding	Benign
10	70876578	C	T	C70876578T	SGPL1	NM_003901.4(SGPL1):c.1483C>T:p.Arg495Ter	coding	Pathogenic
10	70876693	T	G	T70876693G	SGPL1	NM_003901.4(SGPL1):c.1566+32T>G	noncoding	Benign
10	70884006	C	A	C70884006A	PCBD1	NM_000281.4(PCBD1):c.259G>T:p.Glu87Ter	coding	Pathogenic/Likely_pathogenic
10	70885443	T	C	T70885443C	PCBD1	NM_000281.4(PCBD1):c.136-211A>G	noncoding	Benign
10	70885494	G	A	G70885494A	PCBD1	NM_000281.4(PCBD1):c.136-262C>T	noncoding	Benign
10	70886069	A	G	A70886069G	PCBD1	NM_000281.4(PCBD1):c.4-140T>C	noncoding	Benign
10	70886209	G	A	G70886209A	PCBD1	NM_000281.4(PCBD1):c.4-280C>T	noncoding	Benign
10	70888326	T	G	T70888326G	PCBD1	NM_000281.4(PCBD1):c.3+205A>C	noncoding	Benign
10	70888327	C	T	C70888327T	PCBD1	NM_000281.4(PCBD1):c.3+204G>A	noncoding	Benign
10	70888329	A	G	A70888329G	PCBD1	NM_000281.4(PCBD1):c.3+202T>C	noncoding	Benign
10	70888377	A	G	A70888377G	PCBD1	NM_000281.4(PCBD1):c.3+154T>C	noncoding	Benign
10	70888579	C	T	C70888579T	PCBD1	NM_000281.3(PCBD1):c.-46G>A	noncoding	Benign/Likely_benign
10	70888907	T	G	T70888907G	PCBD1	Single_allele	noncoding	Benign
10	71319105	C	G	C71319105G	SLC29A3	Single_allele	noncoding	Benign
10	71319390	G	A	G71319390A	SLC29A3	NM_018344.6(SLC29A3):c.1+80G>A	noncoding	Benign
10	71319472	T	C	T71319472C	SLC29A3	NM_018344.6(SLC29A3):c.1+162T>C	noncoding	Benign
10	71319545	C	G	C71319545G	SLC29A3	NM_018344.6(SLC29A3):c.1+235C>G	noncoding	Benign
10	71322739	C	T	C71322739T	SLC29A3	NM_018344.6(SLC29A3):c.2-17C>T	noncoding	Benign
10	71323056	T	C	T71323056C	SLC29A3	NM_018344.6(SLC29A3):c.300+2T>C	noncoding	Pathogenic
10	71323288	A	G	A71323288G	SLC29A3	NM_018344.6(SLC29A3):c.300+234A>G	noncoding	Benign
10	71344421	G	A	G71344421A	SLC29A3	NM_018344.6(SLC29A3):c.383+130G>A	noncoding	Benign
10	71351220	A	C	A71351220C	SLC29A3	NM_018344.6(SLC29A3):c.384-342A>C	noncoding	Benign
10	71351501	G	T	G71351501T	SLC29A3	NM_018344.6(SLC29A3):c.384-61G>T	noncoding	Benign
10	71351643	G	A	G71351643A	SLC29A3	NM_018344.6(SLC29A3):c.465G>A:p.Val155=	coding	Benign
10	71356187	C	T	C71356187T	SLC29A3	NM_018344.6(SLC29A3):c.717C>T:p.Val239=	coding	Benign
10	71361834	A	C	A71361834C	SLC29A3	NM_018344.6(SLC29A3):c.774-120A>C	noncoding	Benign
10	71361888	C	A	C71361888A	SLC29A3	NM_018344.6(SLC29A3):c.774-66C>A	noncoding	Benign
10	71362267	C	T	C71362267T	SLC29A3	NM_018344.6(SLC29A3):c.1087C>T:p.Arg363Trp	coding	Pathogenic/Likely_pathogenic
10	71439701	T	G	T71439701G	CDH23	NM_022124.6(CDH23):c.-5-126T>G	noncoding	Benign
10	71439896	G	A	G71439896A	CDH23	NM_022124.6(CDH23):c.65G>A:p.Trp22Ter	coding	Pathogenic
10	71439917	G	A	G71439917A	CDH23	NM_022124.6(CDH23):c.67+19G>A	noncoding	Benign/Likely_benign
10	71446274	T	C	T71446274C	CDH23	NM_022124.6(CDH23):c.68-44T>C	noncoding	Benign
10	71509935	G	A	G71509935A	CDH23	NM_022124.6(CDH23):c.146-147G>A	coding	Benign
10	71510081	G	C	G71510081C	CDH23	NM_022124.6(CDH23):c.146-1G>C	noncoding	Pathogenic
10	71510150	G	T	G71510150T	CDH23	NM_022124.6(CDH23):c.214G>T:p.Glu72Ter	coding	Pathogenic
10	71510207	C	T	C71510207T	CDH23	NM_022124.6(CDH23):c.271C>T:p.Gln91Ter	coding	Pathogenic
10	71510279	C	T	C71510279T	CDH23	NM_022124.6(CDH23):c.288+55C>T	noncoding	Benign
10	71510477	T	G	T71510477G	CDH23	NM_022124.6(CDH23):c.288+253T>G	noncoding	Benign
10	71510499	C	G	C71510499G	CDH23	NM_022124.6(CDH23):c.288+275C>G	noncoding	Benign
10	71510640	A	C	A71510640C	CDH23	NM_022124.6(CDH23):c.289-314A>C	noncoding	Benign
10	71511103	C	T	C71511103T	CDH23	NM_022124.6(CDH23):c.337-17C>T	noncoding	Benign
10	71511230	T	C	T71511230C	CDH23	NM_022124.6(CDH23):c.429+18T>C	noncoding	Benign
10	71566523	G	C	G71566523C	CDH23	NM_022124.6(CDH23):c.430-219G>C	noncoding	Benign
10	71566583	C	T	C71566583T	CDH23	NM_022124.6(CDH23):c.430-159C>T	noncoding	Benign
10	71567000	C	T	C71567000T	CDH23	NM_022124.6(CDH23):c.624+64C>T	noncoding	Benign/Likely_benign
10	71570546	C	T	C71570546T	CDH23	NM_022124.6(CDH23):c.625-244C>T	noncoding	Benign
10	71570652	G	A	G71570652A	CDH23	NM_022124.6(CDH23):c.625-138G>A	noncoding	Benign
10	71570697	G	A	G71570697A	CDH23	NM_022124.6(CDH23):c.625-93G>A	noncoding	Benign
10	71570903	C	G	C71570903G	CDH23	NM_022124.6(CDH23):c.738C>G:p.Tyr246Ter	coding	Pathogenic
10	71577697	C	T	C71577697T	CDH23	NM_022124.6(CDH23):c.754-217C>T	noncoding	Benign
10	71577716	C	T	C71577716T	CDH23	NM_022124.6(CDH23):c.754-198C>T	noncoding	Benign
10	71578093	G	A	G71578093A	CDH23	NM_022124.6(CDH23):c.832+101G>A	noncoding	Benign
10	71615542	G	T	G71615542T	CDH23	NM_022124.6(CDH23):c.871G>T:p.Gly291Ter	coding	Pathogenic
10	71617506	C	T	C71617506T	CDH23	NM_022124.6(CDH23):c.1134+113C>T	coding	Benign
10	71617573	T	C	T71617573C	CDH23	NM_022124.6(CDH23):c.1134+180T>C	coding	Benign
10	71643567	C	T	C71643567T	CDH23	NM_022124.6(CDH23):c.1135-294C>T	noncoding	Benign
10	71645582	A	G	A71645582G	CDH23	NM_022124.6(CDH23):c.1141-249A>G	noncoding	Benign
10	71645652	G	A	G71645652A	CDH23	NM_022124.6(CDH23):c.1141-179G>A	noncoding	Benign
10	71645660	T	C	T71645660C	CDH23	NM_022124.6(CDH23):c.1141-171T>C	noncoding	Benign
10	71645725	A	T	A71645725T	CDH23	NM_022124.6(CDH23):c.1141-106A>T	noncoding	Benign
10	71646112	A	G	A71646112G	CDH23	NM_022124.6(CDH23):c.1290+132A>G	noncoding	Benign
10	71646274	A	G	A71646274G	CDH23	NM_022124.6(CDH23):c.1291-185A>G	noncoding	Benign
10	71646458	G	A	G71646458A	CDH23	NM_022124.6(CDH23):c.1291-1G>A	noncoding	Pathogenic
10	71646578	C	T	C71646578T	CDH23	NM_022124.6(CDH23):c.1410C>T:p.Tyr470=	coding	Benign
10	71646590	C	T	C71646590T	CDH23	NM_022124.6(CDH23):c.1422C>T:p.Thr474=	coding	Benign/Likely_benign
10	71646842	G	A	G71646842A	CDH23	NM_022124.6(CDH23):c.1449+225G>A	coding	Benign
10	71646879	C	T	C71646879T	CDH23	NM_022124.6(CDH23):c.1449+262C>T	coding	Benign
10	71646940	G	T	G71646940T	CDH23	NM_022124.6(CDH23):c.1449+323G>T	coding	Benign
10	71647052	C	T	C71647052T	CDH23	NM_022124.6(CDH23):c.1449+435C>T	coding	Benign
10	71674933	G	A	G71674933A	CDH23	NM_022124.6(CDH23):c.1450-179G>A	noncoding	Benign
10	71677123	C	T	C71677123T	CDH23	NM_022124.6(CDH23):c.1515-333C>T	noncoding	Benign
10	71677278	C	T	C71677278T	CDH23	NM_022124.6(CDH23):c.1515-178C>T	noncoding	Benign
10	71677279	C	A	C71677279A	CDH23	NM_022124.6(CDH23):c.1515-177C>A	noncoding	Benign
10	71677676	C	T	C71677676T	CDH23	NM_022124.6(CDH23):c.1735C>T:p.Gln579Ter	coding	Pathogenic
10	71677993	G	T	G71677993T	CDH23	NM_022124.6(CDH23):c.1752+300G>T	noncoding	Benign
10	71679095	C	T	C71679095T	CDH23	NM_022124.6(CDH23):c.1753-292C>T	noncoding	Benign
10	71679331	T	C	T71679331C	CDH23	NM_022124.6(CDH23):c.1753-56T>C	noncoding	Benign
10	71679571	A	G	A71679571G	CDH23	NM_022124.6(CDH23):c.1858+79A>G	noncoding	Benign
10	71679826	C	T	C71679826T	CDH23	NM_022124.6(CDH23):c.1858+334C>T	noncoding	Benign
10	71682222	C	T	C71682222T	CDH23	NM_022124.6(CDH23):c.1859-223C>T	noncoding	Benign
10	71687524	G	A	G71687524A	CDH23	NM_022124.6(CDH23):c.1987-123G>A	noncoding	Benign/Likely_benign
10	71687719	G	T	G71687719T	CDH23	NM_022124.6(CDH23):c.2059G>T:p.Gly687Ter	coding	Pathogenic
10	71690292	C	T	C71690292T	CDH23	NM_022124.6(CDH23):c.2060-176C>T	noncoding	Benign
10	71690430	G	T	G71690430T	CDH23	NM_022124.6(CDH23):c.2060-38G>T	noncoding	Benign
10	71690775	C	T	C71690775T	CDH23	NM_022124.6(CDH23):c.2176+191C>T	noncoding	Benign
10	71690904	C	G	C71690904G	CDH23	NM_022124.6(CDH23):c.2176+320C>G	noncoding	Benign
10	71695165	A	G	A71695165G	CDH23	NM_022124.6(CDH23):c.2290-253A>G	noncoding	Benign
10	71695399	G	A	G71695399A	CDH23	NM_022124.6(CDH23):c.2290-19G>A	noncoding	Benign
10	71695477	C	G	C71695477G	CDH23	NM_022124.6(CDH23):c.2349C>G:p.Tyr783Ter	coding	Pathogenic
10	71701890	T	A	T71701890A	CDH23	NM_022124.6(CDH23):c.2398-132T>A	noncoding	Benign
10	71702711	T	G	T71702711G	CDH23	NM_022124.6(CDH23):c.2733+17T>G	noncoding	Benign
10	71704709	C	T	C71704709T	CDH23	NM_022124.6(CDH23):c.2734-202C>T	noncoding	Benign
10	71706959	G	A	G71706959A	CDH23	NM_022124.6(CDH23):c.3016G>A:p.Glu1006Lys	coding	Pathogenic/Likely_pathogenic
10	71707438	C	T	C71707438T	CDH23	NM_022124.6(CDH23):c.3106+389C>T	coding	Benign
10	71709328	A	G	A71709328G	CDH23	NM_022124.6(CDH23):c.3220+117A>G	noncoding	Benign
10	71712871	C	T	C71712871T	CDH23	NM_022124.6(CDH23):c.3369+58C>T	coding	Benign
10	71712936	G	A	G71712936A	CDH23	NM_022124.6(CDH23):c.3369+123G>A	coding	Benign
10	71723792	C	T	C71723792T	CDH23	NM_022124.6(CDH23):c.3370-253C>T	noncoding	Benign
10	71723888	C	T	C71723888T	CDH23	NM_022124.6(CDH23):c.3370-157C>T	noncoding	Benign
10	71724219	T	C	T71724219C	CDH23	NM_022124.6(CDH23):c.3430+114T>C	noncoding	Benign
10	71724291	T	C	T71724291C	CDH23	NM_022124.6(CDH23):c.3430+186T>C	noncoding	Benign
10	71725167	A	C	A71725167C	CDH23	NM_022124.6(CDH23):c.3431-205A>C	noncoding	Benign/Likely_benign
10	71725183	C	G	C71725183G	CDH23	NM_022124.6(CDH23):c.3431-189C>G	noncoding	Benign
10	71725239	T	C	T71725239C	CDH23	NM_022124.6(CDH23):c.3431-133T>C	noncoding	Benign/Likely_benign
10	71725522	T	C	T71725522C	CDH23	NM_022124.6(CDH23):c.3579+2T>C	noncoding	Pathogenic
10	71725705	C	T	C71725705T	CDH23	NM_022124.6(CDH23):c.3579+185C>T	noncoding	Benign
10	71730229	A	G	A71730229G	CDH23	NM_022124.6(CDH23):c.3580-240A>G	noncoding	Benign
10	71730544	C	T	C71730544T	CDH23	NM_022124.6(CDH23):c.3655C>T:p.Arg1219Ter	coding	Pathogenic
10	71730924	G	A	G71730924A	CDH23	NM_022124.6(CDH23):c.3715+320G>A	noncoding	Benign
10	71732292	G	A	G71732292A	CDH23	NM_022124.6(CDH23):c.4021G>A:p.Asp1341Asn	coding	Pathogenic/Likely_pathogenic
10	71734057	G	C	G71734057C	CDH23	NM_022124.6(CDH23):c.4105-183G>C	noncoding	Benign
10	71734080	C	T	C71734080T	CDH23	NM_022124.6(CDH23):c.4105-160C>T	noncoding	Benign
10	71734531	G	A	G71734531A	CDH23	NM_022124.6(CDH23):c.4207-125G>A	noncoding	Benign
10	71734757	G	A	G71734757A	CDH23	NM_022124.6(CDH23):c.4209+99G>A	noncoding	Benign
10	71738445	T	C	T71738445C	CDH23	NM_022124.6(CDH23):c.4210-53T>C	noncoding	Benign
10	71739314	C	T	C71739314T	CDH23	NM_022124.6(CDH23):c.4360-330C>T	noncoding	Benign
10	71739421	C	A	C71739421A	CDH23	NM_022124.6(CDH23):c.4360-223C>A	noncoding	Benign
10	71740592	C	T	C71740592T	CDH23	NM_022124.6(CDH23):c.4489-230C>T	noncoding	Benign
10	71740625	G	C	G71740625C	CDH23	NM_022124.6(CDH23):c.4489-197G>C	noncoding	Benign
10	71740992	G	T	G71740992T	CDH23	NM_022124.6(CDH23):c.4617+42G>T	noncoding	Benign
10	71741004	C	T	C71741004T	CDH23	NM_022124.6(CDH23):c.4617+54C>T	noncoding	Benign
10	71741013	C	T	C71741013T	CDH23	NM_022124.6(CDH23):c.4617+63C>T	noncoding	Benign
10	71741448	A	T	A71741448T	CDH23	NM_022124.6(CDH23):c.4618-246A>T	noncoding	Benign
10	71742005	A	G	A71742005G	CDH23	NM_022124.6(CDH23):c.4845+84A>G	noncoding	Benign
10	71751727	G	A	G71751727A	CDH23	NM_022124.6(CDH23):c.4845+9806G>A	coding	Benign
10	71777601	G	A	G71777601A	CDH23	NM_022124.6(CDH23):c.4846-79G>A	noncoding	Benign/Likely_benign
10	71777737	C	T	C71777737T	CDH23	NM_022124.6(CDH23):c.4903C>T:p.Gln1635Ter	coding	Pathogenic
10	71778064	G	T	G71778064T	CDH23	NM_022124.6(CDH23):c.5068-125G>T	noncoding	Benign
10	71778407	T	C	T71778407C	CDH23	NM_022124.6(CDH23):c.5187+99T>C	noncoding	Benign
10	71779139	T	A	T71779139A	CDH23	NM_022124.6(CDH23):c.5188-128T>A	noncoding	Benign
10	71779210	G	A	G71779210A	CDH23	NM_022124.6(CDH23):c.5188-57G>A	noncoding	Benign
10	71784923	C	A	C71784923A	CDH23	NM_022124.6(CDH23):c.5535C>A:p.Asn1845Lys	coding	Pathogenic
10	71785407	A	G	A71785407G	CDH23	NM_022124.6(CDH23):c.5713-224A>G	noncoding	Benign
10	71785428	G	A	G71785428A	CDH23	NM_022124.6(CDH23):c.5713-203G>A	noncoding	Benign
10	71785479	G	T	G71785479T	CDH23	NM_022124.6(CDH23):c.5713-152G>T	noncoding	Benign
10	71789119	T	C	T71789119C	CDH23	NM_022124.6(CDH23):c.5923+77T>C	noncoding	Benign
10	71790431	C	G	C71790431G	CDH23	NM_022124.6(CDH23):c.6049+18C>G	noncoding	Benign
10	71790575	C	A	C71790575A	CDH23	NM_022124.6(CDH23):c.6049+162C>A	noncoding	Benign
10	71790642	C	T	C71790642T	CDH23	NM_022124.6(CDH23):c.6049+229C>T	noncoding	Benign
10	71790661	G	A	G71790661A	CDH23	NM_022124.6(CDH23):c.6049+248G>A	noncoding	Benign
10	71791235	C	T	C71791235T	CDH23	NM_022124.6(CDH23):c.6153C>T:p.Ser2051=	coding	Benign
10	71791336	G	A	G71791336A	CDH23	NM_022124.6(CDH23):c.6253+1G>A	coding	Pathogenic/Likely_pathogenic
10	71791501	T	C	T71791501C	CDH23	NM_022124.6(CDH23):c.6253+166T>C	noncoding	Benign
10	71793235	G	T	G71793235T	CDH23	NM_022124.6(CDH23):c.6307G>T:p.Glu2103Ter	coding	Pathogenic
10	71793856	C	T	C71793856T	CDH23	NM_022124.6(CDH23):c.6712+216C>T	noncoding	Benign
10	71796935	A	C	A71796935C	CDH23	NM_022124.6(CDH23):c.6713-169A>C	noncoding	Benign
10	71798737	A	T	A71798737T	CDH23	NM_022124.6(CDH23):c.7054+159A>T	noncoding	Benign
10	71799156	G	A	G71799156A	CDH23	NM_022124.6(CDH23):c.7100G>A:p.Trp2367Ter	coding	Pathogenic
10	71799266	C	T	C71799266T	CDH23	NM_022124.6(CDH23):c.7210C>T:p.Gln2404Ter	coding	Pathogenic
10	71799277	C	A	C71799277A	CDH23	NM_022124.6(CDH23):c.7221C>A:p.Tyr2407Ter	coding	Pathogenic
10	71799688	G	C	G71799688C	CDH23	NM_022124.6(CDH23):c.7362+59G>C	noncoding	Benign
10	71799891	A	G	A71799891G	CDH23	NM_022124.6(CDH23):c.7362+262A>G	noncoding	Benign
10	71800819	C	T	C71800819T	CDH23	NM_022124.6(CDH23):c.7482+64C>T	noncoding	Benign
10	71802781	C	T	C71802781T	CDH23	NM_022124.6(CDH23):c.7483-117C>T	noncoding	Benign
10	71803362	A	G	A71803362G	CDH23	NM_022124.6(CDH23):c.7814A>G:p.Asn2605Ser	coding	Pathogenic
10	71803421	G	A	G71803421A	CDH23	NM_022124.6(CDH23):c.7872+1G>A	coding	Pathogenic
10	71805521	C	T	C71805521T	CDH23	NM_022124.6(CDH23):c.7873-285C>T	noncoding	Benign
10	71805854	G	A	G71805854A	CDH23	NM_022124.6(CDH23):c.7921G>A:p.Asp2641Asn	coding	Pathogenic
10	71806209	C	G	C71806209G	CDH23	NM_022124.6(CDH23):c.8106C>G:p.Tyr2702Ter	coding	Pathogenic
10	71806446	T	A	T71806446A	CDH23	NM_022124.6(CDH23):c.8178+165T>A	noncoding	Benign
10	71807005	G	A	G71807005A	CDH23	NM_022124.6(CDH23):c.8179-272G>A	noncoding	Benign
10	71807021	G	A	G71807021A	CDH23	NM_022124.6(CDH23):c.8179-256G>A	noncoding	Benign
10	71807590	C	T	C71807590T	CDH23	NM_022124.6(CDH23):c.8383C>T:p.Arg2795Ter	coding	Pathogenic
10	71807639	G	A	G71807639A	CDH23	NM_022124.6(CDH23):c.8432G>A:p.Trp2811Ter	coding	Pathogenic
10	71807640	G	A	G71807640A	CDH23	NM_022124.6(CDH23):c.8433G>A:p.Trp2811Ter	coding	Pathogenic
10	71809561	C	T	C71809561T	CDH23	NM_022124.6(CDH23):c.8723-259C>T	noncoding	Benign
10	71809718	G	A	G71809718A	CDH23	NM_022124.6(CDH23):c.8723-102G>A	noncoding	Benign
10	71810284	T	C	T71810284C	CDH23	NM_022124.6(CDH23):c.8980-188T>C	noncoding	Benign
10	71811132	A	G	A71811132G	CDH23	NM_022124.6(CDH23):c.9078-183A>G	noncoding	Benign
10	71811754	G	C	G71811754C	CDH23	NM_022124.6(CDH23):c.9319+1G>C	coding	Pathogenic
10	71812124	G	A	G71812124A	CDH23	NM_022124.6(CDH23):c.9380+109G>A	coding	Benign
10	71812126	C	T	C71812126T	CDH23	NM_022124.6(CDH23):c.9380+111C>T	coding	Benign
10	71813608	G	T	G71813608T	CDH23	NM_022124.6(CDH23):c.9738+260G>T	noncoding	Benign
10	71814831	G	C	G71814831C	CDH23	NM_022124.6(CDH23):c.9739-121G>C	noncoding	Benign
10	71817795	C	T	C71817795T	PSAP	NM_002778.4(PSAP):c.1540-319G>A	noncoding	Benign
10	71818402	A	T	A71818402T	PSAP	NM_002778.4(PSAP):c.1539+215T>A	noncoding	Benign
10	71818871	C	T	C71818871T	PSAP	NM_002778.4(PSAP):c.1432-147G>A	noncoding	Benign
10	71818915	G	A	G71818915A	PSAP	NM_002778.4(PSAP):c.1431+116C>T	noncoding	Benign
10	71819137	T	C	T71819137C	PSAP	NM_002778.4(PSAP):c.1351-26A>G	noncoding	Benign
10	71819611	G	A	G71819611A	PSAP	NM_002778.4(PSAP):c.1204C>T:p.Gln402Ter	coding	Pathogenic
10	71819640	G	A	G71819640A	PSAP	NM_002778.4(PSAP):c.1193-18C>T	noncoding	Benign
10	71820111	C	T	C71820111T	PSAP	NM_002778.4(PSAP):c.1005+129G>A	noncoding	Benign
10	71820239	C	T	C71820239T	PSAP	NM_002778.4(PSAP):c.1005+1G>A	noncoding	Pathogenic
10	71821896	C	A	C71821896A	PSAP	NM_002778.4(PSAP):c.889G>T:p.Glu297Ter	coding	Pathogenic
10	71822277	G	A	G71822277A	PSAP	NM_002778.4(PSAP):c.778-270C>T	noncoding	Benign
10	71823922	G	T	G71823922T	PSAP	NM_002778.4(PSAP):c.777+1915C>A	noncoding	Pathogenic
10	71825769	A	G	A71825769G	PSAP	NM_002778.4(PSAP):c.777+68T>C	noncoding	Benign
10	71825893	A	C	A71825893C	PSAP	NM_002778.4(PSAP):c.721T>G:p.Cys241Gly	coding	Pathogenic
10	71826180	G	C	G71826180C	PSAP	NM_002778.4(PSAP):c.721-287C>G	noncoding	Benign
10	71828064	C	A	C71828064A	PSAP	NM_002778.4(PSAP):c.670G>T:p.Glu224Ter	coding	Pathogenic
10	71828089	G	T	G71828089T	PSAP	NM_002778.4(PSAP):c.645C>A:p.Asn215Lys	coding	Pathogenic
10	71828213	C	T	C71828213T	PSAP	NM_002778.4(PSAP):c.577-56G>A	noncoding	Benign
10	71828436	G	A	G71828436A	PSAP	NM_002778.4(PSAP):c.577-279C>T	noncoding	Benign
10	71830900	C	T	C71830900T	PSAP	NM_002778.4(PSAP):c.375+226G>A	noncoding	Benign
10	71831773	G	A	G71831773A	PSAP	NM_002778.4(PSAP):c.249+73C>T	noncoding	Benign
10	71831886	A	C	A71831886C	PSAP	NM_002778.4(PSAP):c.209T>G:p.Val70Gly	coding	Pathogenic
10	71832022	G	T	G71832022T	PSAP	NM_002778.4(PSAP):c.175-102C>A	noncoding	Benign
10	71832037	G	A	G71832037A	PSAP	NM_002778.4(PSAP):c.175-117C>T	noncoding	Benign
10	71832060	T	G	T71832060G	PSAP	NM_002778.4(PSAP):c.175-140A>C	noncoding	Benign
10	71832072	G	A	G71832072A	PSAP	NM_002778.4(PSAP):c.175-152C>T	noncoding	Benign
10	71834071	G	A	G71834071A	PSAP	NM_002778.4(PSAP):c.174+301C>T	noncoding	Benign
10	71834208	G	A	G71834208A	PSAP	NM_002778.4(PSAP):c.174+164C>T	noncoding	Benign
10	71834522	C	T	C71834522T	PSAP	NM_002778.4(PSAP):c.41-17G>A	noncoding	Benign
10	71834558	G	A	G71834558A	PSAP	NM_002778.4(PSAP):c.41-53C>T	noncoding	Benign
10	71834601	C	T	C71834601T	PSAP	NM_002778.4(PSAP):c.41-96G>A	noncoding	Benign
10	71834757	T	C	T71834757C	PSAP	NM_002778.4(PSAP):c.41-252A>G	noncoding	Benign
10	71851220	A	C	A71851220C	PSAP	NM_002778.4(PSAP):c.2T>G:p.Met1Arg	coding	Pathogenic
10	71851351	A	G	A71851351G	PSAP	NM_001042465.2(PSAP):c.-130T>C	noncoding	Benign/Likely_benign
10	72005455	T	C	T72005455C	CHST3	NM_004273.5(CHST3):c.-107-281T>C	noncoding	Benign
10	72006015	T	G	T72006015G	CHST3	NM_004273.5(CHST3):c.140+33T>G	noncoding	Benign
10	72006237	A	G	A72006237G	CHST3	NM_004273.5(CHST3):c.140+255A>G	noncoding	Benign
10	72007171	G	C	G72007171C	CHST3	NM_004273.5(CHST3):c.141-1G>C	noncoding	Pathogenic
10	72007302	C	T	C72007302T	CHST3	NM_004273.5(CHST3):c.271C>T:p.Gln91Ter	coding	Pathogenic
10	72007365	G	T	G72007365T	CHST3	NM_004273.5(CHST3):c.334G>T:p.Glu112Ter	coding	Pathogenic
10	72007544	A	G	A72007544G	CHST3	NM_004273.5(CHST3):c.513A>G:p.Thr171=	coding	Benign
10	72007719	G	T	G72007719T	CHST3	NM_004273.5(CHST3):c.688G>T:p.Glu230Ter	coding	Pathogenic/Likely_pathogenic
10	72008459	C	T	C72008459T	CHST3	NM_004273.5(CHST3):c.1428C>T:p.Phe476=	coding	Benign/Likely_benign
10	72097226	A	G	A72097226G	ASCC1	NM_001198800.3(ASCC1):c.*108T>C	noncoding	Benign
10	72102274	C	T	C72102274T	ASCC1	NM_001198800.3(ASCC1):c.958-4824G>A	noncoding	Benign
10	72133144	G	A	G72133144A	ASCC1	NM_001198800.3(ASCC1):c.784C>T:p.Gln262Ter	coding	Pathogenic
10	72152901	G	A	G72152901A	ASCC1	NM_001198800.3(ASCC1):c.714C>T:p.Tyr238=	coding	Benign
10	72152901	G	T	G72152901T	ASCC1	NM_001198800.3(ASCC1):c.714C>A:p.Tyr238Ter	coding	Pathogenic
10	72161404	G	A	G72161404A	ASCC1	NM_001198800.3(ASCC1):c.626+134C>T	noncoding	Benign
10	72161437	T	C	T72161437C	ASCC1	NM_001198800.3(ASCC1):c.626+101A>G	noncoding	Benign
10	72161837	A	G	A72161837G	ASCC1	NM_001198800.3(ASCC1):c.490-163T>C	noncoding	Benign
10	72196795	C	T	C72196795T	ASCC1	NM_001198800.3(ASCC1):c.489+16G>A	noncoding	Benign
10	72196861	G	A	G72196861A	ASCC1	NM_001198800.3(ASCC1):c.439C>T:p.Gln147Ter	coding	Pathogenic
10	72196951	G	A	G72196951A	ASCC1	NM_001198800.3(ASCC1):c.349C>T:p.Arg117Ter	coding	Pathogenic
10	72203412	T	A	T72203412A	ASCC1	NM_001198800.3(ASCC1):c.310+15A>T	noncoding	Benign
10	72203442	G	A	G72203442A	ASCC1	NM_001198800.3(ASCC1):c.295C>T:p.Gln99Ter	coding	Pathogenic
10	72204246	C	T	C72204246T	ASCC1	NM_001198800.3(ASCC1):c.213-722G>A	noncoding	Benign
10	72204412	C	T	C72204412T	ASCC1	NM_001198800.3(ASCC1):c.213-888G>A	noncoding	Benign
10	72204485	G	C	G72204485C	ASCC1	NM_001198800.3(ASCC1):c.213-961C>G	coding	Benign
10	72210693	G	T	G72210693T	ASCC1	NM_001198800.3(ASCC1):c.212+39C>A	noncoding	Benign
10	72210715	T	C	T72210715C	ASCC1	NM_001198800.3(ASCC1):c.212+17A>G	noncoding	Benign
10	72210908	G	A	G72210908A	ASCC1	NM_001198800.3(ASCC1):c.113-77C>T	noncoding	Benign
10	72210954	G	A	G72210954A	ASCC1	NM_001198800.3(ASCC1):c.113-123C>T	noncoding	Benign
10	72213199	C	T	C72213199T	ASCC1	NM_001198800.3(ASCC1):c.100G>A:p.Asp34Asn	coding	Benign
10	72213485	A	T	A72213485T	ASCC1	NM_001198800.3(ASCC1):c.-33-154T>A	noncoding	Benign
10	72213572	C	T	C72213572T	ASCC1	NM_001198800.3(ASCC1):c.-33-241G>A	noncoding	Benign
10	72368083	C	T	C72368083T	MICU1	NM_001195518.2(MICU1):c.*112G>A	noncoding	Benign
10	72368095	G	A	G72368095A	MICU1	NM_001195518.2(MICU1):c.*100C>T	noncoding	Benign
10	72378907	T	A	T72378907A	MICU1	NM_001195518.2(MICU1):c.1181-3035A>T	noncoding	Benign
10	72423159	T	C	T72423159C	MICU1	NM_001195518.2(MICU1):c.1071+75A>G	noncoding	Benign
10	72423384	C	A	C72423384A	MICU1	NM_001195518.2(MICU1):c.934-13G>T	noncoding	Benign/Likely_benign
10	72423493	G	A	G72423493A	MICU1	NM_001195518.2(MICU1):c.934-122C>T	noncoding	Benign
10	72475059	T	C	T72475059C	MICU1	NM_001195518.2(MICU1):c.933+41A>G	noncoding	Benign
10	72477264	G	A	G72477264A	MICU1	NM_001195518.2(MICU1):c.653-8C>T	noncoding	Benign
10	72507923	G	C	G72507923C	MICU1	NM_001195518.2(MICU1):c.652+232C>G	noncoding	Benign
10	72508209	C	A	C72508209A	MICU1	NM_001195518.2(MICU1):c.598G>T:p.Glu200Ter	coding	Pathogenic
10	72509110	G	T	G72509110T	MICU1	NM_001195518.2(MICU1):c.538-841C>A	noncoding	Benign
10	72533826	A	T	A72533826T	MICU1	NM_001195518.2(MICU1):c.494-37T>A	noncoding	Benign
10	72533843	T	A	T72533843A	MICU1	NM_001195518.2(MICU1):c.494-54A>T	noncoding	Benign
10	72551212	G	A	G72551212A	MICU1	NM_001195518.2(MICU1):c.460C>T:p.Arg154Ter	coding	Pathogenic/Likely_pathogenic
10	72551252	A	G	A72551252G	MICU1	NM_001195518.2(MICU1):c.420T>C:p.Pro140=	coding	Benign
10	72551287	G	A	G72551287A	MICU1	NM_001195518.2(MICU1):c.385C>T:p.Arg129Ter	coding	Pathogenic
10	72566632	C	T	C72566632T	MICU1	NM_001195518.2(MICU1):c.161+1G>A	noncoding	Pathogenic/Likely_pathogenic
10	72566742	G	A	G72566742A	MICU1	NM_001195518.2(MICU1):c.52C>T:p.Arg18Ter	coding	Pathogenic
10	72625860	T	A	T72625860A	MICU1	NM_001195518.2(MICU1):c.-2+150A>T	noncoding	Benign
10	73250839	A	G	A73250839G	MRPS16	NM_016065.4(MRPS16):c.*13T>C	noncoding	Benign
10	73251551	T	A	T73251551A	MRPS16	NM_016065.4(MRPS16):c.274+212A>T	noncoding	Benign
10	73252026	G	A	G73252026A	MRPS16	NM_016065.4(MRPS16):c.14-3C>T	noncoding	Benign/Likely_benign
10	73252184	G	C	G73252184C	MRPS16	NM_016065.4(MRPS16):c.14-161C>G	noncoding	Benign
10	73252364	A	G	A73252364G	MRPS16	NM_016065.4(MRPS16):c.13+106T>C	noncoding	Benign
10	73842486	C	G	C73842486G	CAMK2G	NM_001367534.1(CAMK2G):c.875G>C:p.Arg292Pro	coding	Pathogenic/Likely_pathogenic
10	73853123	T	C	T73853123C	CAMK2G	NM_001367534.1(CAMK2G):c.275+69A>G	noncoding	Benign
10	73860999	T	C	T73860999C	CAMK2G	NM_001367534.1(CAMK2G):c.161-110A>G	noncoding	Benign
10	73873002	C	T	C73873002T	CAMK2G	NM_001367534.1(CAMK2G):c.147G>A:p.Lys49=	coding	Benign
10	73911404	G	T	G73911404T	PLAU	NM_002658.6(PLAU):c.-31-121G>T	noncoding	Benign
10	73912117	G	A	G73912117A	PLAU	NM_002658.6(PLAU):c.85+49G>A	noncoding	Benign
10	73913203	G	A	G73913203A	PLAU	NM_002658.6(PLAU):c.369-87G>A	noncoding	Benign
10	73913838	C	T	C73913838T	PLAU	NM_002658.6(PLAU):c.680+80C>T	noncoding	Benign
10	73914982	C	T	C73914982T	PLAU	NM_002658.6(PLAU):c.970+66C>T	noncoding	Benign
10	74072940	C	G	C74072940G	VCL	NM_014000.3(VCL):c.622+88C>G	noncoding	Benign
10	74074713	A	G	A74074713G	VCL	NM_014000.3(VCL):c.623-30A>G	noncoding	Benign
10	74082557	T	C	T74082557C	VCL	NM_014000.3(VCL):c.874+13T>C	noncoding	Benign/Likely_benign
10	74083361	T	C	T74083361C	VCL	NM_014000.3(VCL):c.875-5T>C	noncoding	Benign/Likely_benign
10	74089369	G	A	G74089369A	VCL	NM_014000.3(VCL):c.1176+20G>A	noncoding	Benign/Likely_benign
10	74089745	T	C	T74089745C	VCL	NM_014000.3(VCL):c.1177-278T>C	noncoding	Benign
10	74090140	C	T	C74090140T	VCL	NM_014000.3(VCL):c.1294C>T:p.Leu432=	coding	Benign/Likely_benign
10	74090233	C	A	C74090233A	VCL	NM_014000.3(VCL):c.1352+35C>A	noncoding	Benign
10	74094068	A	G	A74094068G	VCL	NM_014000.3(VCL):c.1353-203A>G	noncoding	Benign
10	74097185	T	G	T74097185G	VCL	NM_014000.3(VCL):c.1744-19T>G	noncoding	Benign/Likely_benign
10	74107435	G	T	G74107435T	VCL	NM_014000.3(VCL):c.2559+81G>T	noncoding	Benign
10	74114434	T	C	T74114434C	VCL	NM_014000.3(VCL):c.3153+47T>C	noncoding	Benign
10	74114436	T	C	T74114436C	VCL	NM_014000.3(VCL):c.3153+49T>C	noncoding	Benign
10	74114657	A	G	A74114657G	VCL	NM_014000.3(VCL):c.3154-138A>G	noncoding	Benign
10	74114789	C	T	C74114789T	VCL	NM_014000.3(VCL):c.3154-6C>T	noncoding	Benign/Likely_benign
10	74151197	G	C	G74151197C	ADK	Single_allele	noncoding	Benign
10	74151518	C	A	C74151518A	ADK	NM_006721.4(ADK):c.65+175C>A	noncoding	Benign
10	74200688	A	T	A74200688T	ADK	NM_006721.4(ADK):c.66-76A>T	noncoding	Benign
10	74314649	A	G	A74314649G	ADK	NM_006721.4(ADK):c.195-18A>G	noncoding	Benign/Likely_benign
10	74398419	C	T	C74398419T	ADK	NM_006721.4(ADK):c.447-52C>T	noncoding	Benign
10	74398760	T	C	T74398760C	ADK	NM_006721.4(ADK):c.555+181T>C	noncoding	Benign
10	74525540	G	A	G74525540A	ADK	NM_006721.4(ADK):c.726+114G>A	noncoding	Benign
10	74600264	T	C	T74600264C	ADK	NM_006721.4(ADK):c.763-115T>C	noncoding	Benign
10	74670112	T	C	T74670112C	ADK	NM_006721.4(ADK):c.878-71T>C	noncoding	Benign
10	74843219	C	T	C74843219T	KAT6B	NM_012330.4(KAT6B):c.362C>T:p.Pro121Leu	coding	Benign
10	74843367	G	A	G74843367A	KAT6B	NM_012330.4(KAT6B):c.510G>A:p.Pro170=	coding	Benign
10	74843518	C	A	C74843518A	KAT6B	NM_012330.4(KAT6B):c.621+40C>A	noncoding	Benign
10	74843777	G	A	G74843777A	KAT6B	NM_012330.4(KAT6B):c.621+299G>A	noncoding	Benign
10	74960047	A	G	A74960047G	KAT6B	NM_012330.4(KAT6B):c.699A>G:p.Glu233=	coding	Benign
10	74960085	T	A	T74960085A	KAT6B	NM_012330.4(KAT6B):c.730+7T>A	noncoding	Benign
10	74969973	T	C	T74969973C	KAT6B	NM_012330.4(KAT6B):c.847-47T>C	noncoding	Benign
10	74972603	T	C	T74972603C	KAT6B	NM_012330.4(KAT6B):c.1025T>C:p.Ile342Thr	coding	Benign/Likely_benign
10	74975704	T	C	T74975704C	KAT6B	NM_012330.4(KAT6B):c.1367T>C:p.Ile456Thr	coding	Benign/Likely_benign
10	74975805	C	T	C74975805T	KAT6B	NM_012330.4(KAT6B):c.1468C>T:p.Pro490Ser	coding	Benign/Likely_benign
10	74975877	A	G	A74975877G	KAT6B	NM_012330.4(KAT6B):c.1540A>G:p.Thr514Ala	coding	Benign
10	74975991	A	G	A74975991G	KAT6B	NM_012330.4(KAT6B):c.1654A>G:p.Thr552Ala	coding	Benign
10	74976026	G	A	G74976026A	KAT6B	NM_012330.4(KAT6B):c.1689G>A:p.Pro563=	coding	Benign/Likely_benign
10	74976331	G	A	G74976331A	KAT6B	NM_012330.4(KAT6B):c.1993+1G>A	coding	Pathogenic
10	74976370	G	A	G74976370A	KAT6B	NM_012330.4(KAT6B):c.1993+40G>A	noncoding	Benign
10	74979348	A	G	A74979348G	KAT6B	NM_012330.4(KAT6B):c.2231+9A>G	noncoding	Benign
10	75020395	A	G	A75020395G	KAT6B	NM_012330.4(KAT6B):c.2630-187A>G	noncoding	Benign
10	75020544	C	T	C75020544T	KAT6B	NM_012330.4(KAT6B):c.2630-38C>T	noncoding	Benign
10	75021268	C	T	C75021268T	KAT6B	NM_012330.4(KAT6B):c.3004C>T:p.Arg1002Ter	coding	Pathogenic
10	75021899	C	T	C75021899T	KAT6B	NM_012330.4(KAT6B):c.3040C>T:p.Gln1014Ter	coding	Pathogenic
10	75022076	G	T	G75022076T	KAT6B	NM_012330.4(KAT6B):c.3217G>T:p.Glu1073Ter	coding	Pathogenic
10	75022085	G	A	G75022085A	KAT6B	NM_012330.4(KAT6B):c.3226G>A:p.Glu1076Lys	coding	Benign
10	75022196	T	C	T75022196C	KAT6B	NM_012330.4(KAT6B):c.3337T>C:p.Leu1113=	coding	Benign/Likely_benign
10	75022261	C	T	C75022261T	KAT6B	NM_012330.4(KAT6B):c.3372+30C>T	noncoding	Benign
10	75022263	C	T	C75022263T	KAT6B	NM_012330.4(KAT6B):c.3372+32C>T	noncoding	Benign
10	75024780	T	C	T75024780C	KAT6B	NM_012330.4(KAT6B):c.3373-178T>C	noncoding	Benign
10	75025001	G	A	G75025001A	KAT6B	NM_012330.4(KAT6B):c.3416G>A:p.Arg1139Lys	coding	Benign/Likely_benign
10	75025118	T	C	T75025118C	KAT6B	NM_012330.4(KAT6B):c.3533T>C:p.Ile1178Thr	coding	Benign
10	75025289	T	C	T75025289C	KAT6B	NM_012330.4(KAT6B):c.3664+40T>C	noncoding	Benign
10	75028488	G	C	G75028488C	KAT6B	NM_012330.4(KAT6B):c.3665-1G>C	noncoding	Pathogenic
10	75028521	G	A	G75028521A	KAT6B	NM_012330.4(KAT6B):c.3697G>A:p.Glu1233Lys	coding	Benign
10	75028552	A	G	A75028552G	KAT6B	NM_012330.4(KAT6B):c.3728A>G:p.Lys1243Arg	coding	Benign
10	75028553	G	C	G75028553C	KAT6B	NM_012330.4(KAT6B):c.3729G>C:p.Lys1243Asn	coding	Benign
10	75028781	G	T	G75028781T	KAT6B	NM_012330.4(KAT6B):c.3957G>T:p.Leu1319Phe	coding	Benign/Likely_benign
10	75028860	G	T	G75028860T	KAT6B	NM_012330.4(KAT6B):c.4036G>T:p.Asp1346Tyr	coding	Benign/Likely_benign
10	75028904	A	G	A75028904G	KAT6B	NM_012330.4(KAT6B):c.4080A>G:p.Glu1360=	coding	Benign
10	75028965	G	C	G75028965C	KAT6B	NM_012330.4(KAT6B):c.4141G>C:p.Asp1381His	coding	Benign
10	75029035	G	A	G75029035A	KAT6B	NM_012330.4(KAT6B):c.4211G>A:p.Arg1404His	coding	Benign/Likely_benign
10	75029052	G	T	G75029052T	KAT6B	NM_012330.4(KAT6B):c.4228G>T:p.Glu1410Ter	coding	Pathogenic
10	75029055	G	T	G75029055T	KAT6B	NM_012330.4(KAT6B):c.4231G>T:p.Glu1411Ter	coding	Pathogenic
10	75029063	A	G	A75029063G	KAT6B	NM_012330.4(KAT6B):c.4239A>G:p.Glu1413=	coding	Benign
10	75029136	G	A	G75029136A	KAT6B	NM_012330.4(KAT6B):c.4312G>A:p.Glu1438Lys	coding	Benign/Likely_benign
10	75029208	C	A	C75029208A	KAT6B	NM_012330.4(KAT6B):c.4384C>A:p.Leu1462Ile	coding	Benign
10	75029214	G	A	G75029214A	KAT6B	NM_012330.4(KAT6B):c.4390G>A:p.Val1464Met	coding	Benign/Likely_benign
10	75029216	G	A	G75029216A	KAT6B	NM_012330.4(KAT6B):c.4392G>A:p.Val1464=	coding	Benign
10	75029217	C	A	C75029217A	KAT6B	NM_012330.4(KAT6B):c.4393C>A:p.Gln1465Lys	coding	Benign
10	75029247	A	G	A75029247G	KAT6B	NM_012330.4(KAT6B):c.4423A>G:p.Met1475Val	coding	Benign
10	75029258	C	T	C75029258T	KAT6B	NM_012330.4(KAT6B):c.4434C>T:p.Gly1478=	coding	Benign
10	75029265	C	G	C75029265G	KAT6B	NM_012330.4(KAT6B):c.4441C>G:p.Leu1481Val	coding	Benign
10	75029435	C	T	C75029435T	KAT6B	NM_012330.4(KAT6B):c.4611C>T:p.Ile1537=	coding	Benign/Likely_benign
10	75029457	G	A	G75029457A	KAT6B	NM_012330.4(KAT6B):c.4633G>A:p.Val1545Ile	coding	Benign/Likely_benign
10	75029864	C	G	C75029864G	KAT6B	NM_012330.4(KAT6B):c.5040C>G:p.Tyr1680Ter	coding	Pathogenic
10	75029882	C	A	C75029882A	KAT6B	NM_012330.4(KAT6B):c.5058C>A:p.Tyr1686Ter	coding	Pathogenic
10	75030056	G	A	G75030056A	KAT6B	NM_012330.4(KAT6B):c.5232G>A:p.Pro1744=	coding	Benign
10	75030179	C	T	C75030179T	KAT6B	NM_012330.4(KAT6B):c.5355C>T:p.Pro1785=	coding	Benign/Likely_benign
10	75030746	G	A	G75030746A	KAT6B	NM_012330.4(KAT6B):c.5922G>A:p.Ala1974=	coding	Benign/Likely_benign
10	75030794	C	T	C75030794T	KAT6B	NM_012330.4(KAT6B):c.5970C>T:p.Asn1990=	coding	Benign
10	75030872	G	A	G75030872A	KAT6B	NM_012330.4(KAT6B):c.6048G>A:p.Thr2016=	coding	Benign
10	75030977	C	T	C75030977T	KAT6B	NM_012330.4(KAT6B):c.6153C>T:p.Pro2051=	coding	Benign
10	75094806	C	T	C75094806T	DUSP13	NM_001363514.2(DUSP13):c.875G>A:p.Cys292Tyr	coding	Benign
10	75782999	C	T	C75782999T	LRMDA	NM_001305581.2(LRMDA):c.132-253009C>T	coding	Benign
10	76047241	C	T	C76047241T	LRMDA	NM_001305581.2(LRMDA):c.336C>T:p.Asn112=	coding	Benign/Likely_benign
10	76047334	A	C	A76047334C	LRMDA	NM_001305581.2(LRMDA):c.398+31A>C	noncoding	Benign
10	76058836	C	T	C76058836T	LRMDA	NM_001305581.2(LRMDA):c.516+53C>T	noncoding	Benign
10	76889214	G	A	G76889214A	KCNMA1	NM_001161352.2(KCNMA1):c.3461+237C>T	noncoding	Benign
10	76889641	C	T	C76889641T	KCNMA1	NM_001161352.2(KCNMA1):c.3343-72G>A	noncoding	Benign
10	76889844	T	C	T76889844C	KCNMA1	NM_001161352.2(KCNMA1):c.3343-275A>G	noncoding	Benign
10	76909817	T	C	T76909817C	KCNMA1	NM_001161352.2(KCNMA1):c.3147+149A>G	noncoding	Benign
10	76913799	T	G	T76913799G	KCNMA1	NM_001161352.2(KCNMA1):c.3016+1137A>C	noncoding	Benign
10	76913882	G	T	G76913882T	KCNMA1	NM_001161352.2(KCNMA1):c.3016+1054C>A	noncoding	Benign
10	76914382	C	T	C76914382T	KCNMA1	NM_001161352.2(KCNMA1):c.3016+554G>A	noncoding	Benign
10	76914853	A	G	A76914853G	KCNMA1	NM_001161352.2(KCNMA1):c.3016+83T>C	noncoding	Benign
10	76949445	G	A	G76949445A	KCNMA1	NM_001161352.2(KCNMA1):c.2485-79C>T	noncoding	Benign
10	76949544	C	T	C76949544T	KCNMA1	NM_001161352.2(KCNMA1):c.2485-178G>A	noncoding	Benign
10	76949557	T	C	T76949557C	KCNMA1	NM_001161352.2(KCNMA1):c.2485-191A>G	noncoding	Benign
10	76951800	A	G	A76951800G	KCNMA1	NM_001161352.2(KCNMA1):c.2484+2001T>C	noncoding	Benign
10	76953510	G	A	G76953510A	KCNMA1	NM_001161352.2(KCNMA1):c.2484+291C>T	noncoding	Benign
10	76953552	G	C	G76953552C	KCNMA1	NM_001161352.2(KCNMA1):c.2484+249C>G	noncoding	Benign
10	76954139	C	G	C76954139G	KCNMA1	NM_001161352.2(KCNMA1):c.2361-215G>C	noncoding	Benign
10	76969911	A	G	A76969911G	KCNMA1	NM_001161352.2(KCNMA1):c.2360+63T>C	noncoding	Benign
10	77001201	C	T	C77001201T	KCNMA1	NM_001161352.2(KCNMA1):c.2266+206G>A	noncoding	Benign
10	77012251	G	T	G77012251T	KCNMA1	NM_001161352.2(KCNMA1):c.2016-208C>A	noncoding	Benign
10	77018976	G	A	G77018976A	KCNMA1	NM_001161352.2(KCNMA1):c.2015+37C>T	noncoding	Benign
10	77028116	T	C	T77028116C	KCNMA1	NM_001161352.2(KCNMA1):c.1860-225A>G	noncoding	Benign
10	77073086	C	T	C77073086T	KCNMA1	NM_001161352.2(KCNMA1):c.1749+11G>A	noncoding	Benign/Likely_benign
10	77073312	T	C	T77073312C	KCNMA1	NM_001161352.2(KCNMA1):c.1594-60A>G	noncoding	Benign
10	77079463	G	A	G77079463A	KCNMA1	NM_001161352.2(KCNMA1):c.1593+18C>T	noncoding	Benign
10	77079626	C	A	C77079626A	KCNMA1	NM_001161352.2(KCNMA1):c.1524-76G>T	noncoding	Benign
10	77086847	T	C	T77086847C	KCNMA1	NM_001161352.2(KCNMA1):c.1335-254A>G	noncoding	Benign
10	77090254	C	T	C77090254T	KCNMA1	NM_001161352.2(KCNMA1):c.1334+146G>A	noncoding	Benign
10	77090562	C	G	C77090562G	KCNMA1	NM_001161352.2(KCNMA1):c.1224-52G>C	noncoding	Benign
10	77090675	A	T	A77090675T	KCNMA1	NM_001161352.2(KCNMA1):c.1224-165T>A	noncoding	Benign
10	77090680	C	T	C77090680T	KCNMA1	NM_001161352.2(KCNMA1):c.1224-170G>A	noncoding	Benign
10	77108192	C	T	C77108192T	KCNMA1	NM_001161352.2(KCNMA1):c.1223+289G>A	noncoding	Benign
10	77108446	G	A	G77108446A	KCNMA1	NM_001161352.2(KCNMA1):c.1223+35C>T	noncoding	Benign
10	77108828	C	A	C77108828A	KCNMA1	NM_001161352.2(KCNMA1):c.1132-256G>T	noncoding	Benign
10	77110252	G	T	G77110252T	KCNMA1	NM_001161352.2(KCNMA1):c.1052C>A:p.Ser351Tyr	coding	Pathogenic
10	77110356	G	C	G77110356C	KCNMA1	NM_001161352.2(KCNMA1):c.961-13C>G	noncoding	Benign/Likely_benign
10	77112210	G	T	G77112210T	KCNMA1	NM_001161352.2(KCNMA1):c.960+157C>A	noncoding	Benign
10	77112319	G	T	G77112319T	KCNMA1	NM_001161352.2(KCNMA1):c.960+48C>A	noncoding	Benign
10	77120778	A	G	A77120778G	KCNMA1	NM_001161352.2(KCNMA1):c.884+195T>C	noncoding	Benign
10	77121185	A	G	A77121185G	KCNMA1	NM_001161352.2(KCNMA1):c.809-137T>C	noncoding	Benign
10	77183257	A	G	A77183257G	KCNMA1	NM_001161352.2(KCNMA1):c.808+164T>C	noncoding	Benign
10	77184542	A	G	A77184542G	KCNMA1	NM_001161352.2(KCNMA1):c.696+281T>C	noncoding	Benign
10	77238561	C	A	C77238561A	KCNMA1	NM_001161352.2(KCNMA1):c.602+12634G>T	noncoding	Benign
10	77251136	A	G	A77251136G	KCNMA1	NM_001161352.2(KCNMA1):c.602+59T>C	noncoding	Benign
10	77404109	G	C	G77404109C	KCNMA1	NM_001161352.2(KCNMA1):c.379-86C>G	noncoding	Benign
10	77404126	T	C	T77404126C	KCNMA1	NM_001161352.2(KCNMA1):c.379-103A>G	noncoding	Benign
10	77636705	C	T	C77636705T	KCNMA1	NM_001161352.2(KCNMA1):c.378+560G>A	coding	Benign
10	77636963	C	T	C77636963T	KCNMA1	NM_001161352.2(KCNMA1):c.378+302G>A	coding	Benign
10	77637916	G	A	G77637916A	KCNMA1	Single_allele	noncoding	Benign
10	77977657	C	T	C77977657T	POLR3A	NM_007055.4(POLR3A):c.4025-31G>A	noncoding	Benign
10	77977855	A	C	A77977855C	POLR3A	NM_007055.4(POLR3A):c.4025-229T>G	noncoding	Benign
10	77979842	A	T	A77979842T	POLR3A	NM_007055.4(POLR3A):c.4024+299T>A	noncoding	Benign
10	77980298	G	A	G77980298A	POLR3A	NM_007055.4(POLR3A):c.3892-25C>T	noncoding	Benign
10	77980504	T	C	T77980504C	POLR3A	NM_007055.4(POLR3A):c.3892-231A>G	noncoding	Benign
10	77981606	A	G	A77981606G	POLR3A	NM_007055.4(POLR3A):c.3760-47T>C	noncoding	Benign
10	77981650	G	A	G77981650A	POLR3A	NM_007055.4(POLR3A):c.3760-91C>T	noncoding	Benign
10	77981723	G	A	G77981723A	POLR3A	NM_007055.4(POLR3A):c.3760-164C>T	noncoding	Benign
10	77982180	G	A	G77982180A	POLR3A	NM_007055.4(POLR3A):c.3733C>T:p.Arg1245Ter	coding	Pathogenic
10	77982244	G	T	G77982244T	POLR3A	NM_007055.4(POLR3A):c.3669C>A:p.Tyr1223Ter	coding	Pathogenic
10	77982840	T	C	T77982840C	POLR3A	NM_007055.4(POLR3A):c.3430-23A>G	noncoding	Benign
10	77982859	G	T	G77982859T	POLR3A	NM_007055.4(POLR3A):c.3430-42C>A	noncoding	Benign
10	77985103	G	A	G77985103A	POLR3A	NM_007055.4(POLR3A):c.3242+67C>T	noncoding	Benign
10	77985109	C	G	C77985109G	POLR3A	NM_007055.4(POLR3A):c.3242+61G>C	noncoding	Benign
10	77985136	A	C	A77985136C	POLR3A	NM_007055.4(POLR3A):c.3242+34T>G	noncoding	Benign
10	77985511	A	G	A77985511G	POLR3A	NM_007055.4(POLR3A):c.3072-171T>C	noncoding	Benign
10	77986031	A	G	A77986031G	POLR3A	NM_007055.4(POLR3A):c.2988+42T>C	noncoding	Benign
10	77986072	C	T	C77986072T	POLR3A	NM_007055.4(POLR3A):c.2988+1G>A	noncoding	Pathogenic
10	77986123	T	C	T77986123C	POLR3A	NM_007055.4(POLR3A):c.2938A>G:p.Ile980Val	coding	Benign/Likely_benign
10	77986261	T	C	T77986261C	POLR3A	NM_007055.4(POLR3A):c.2902-102A>G	noncoding	Benign
10	77990888	A	G	A77990888G	POLR3A	NM_007055.4(POLR3A):c.2901+166T>C	noncoding	Benign
10	77991057	C	T	C77991057T	POLR3A	NM_007055.4(POLR3A):c.2898G>A:p.Leu966=	coding	Benign/Likely_benign
10	77991461	G	A	G77991461A	POLR3A	NM_007055.4(POLR3A):c.2788-294C>T	noncoding	Benign
10	77993326	A	T	A77993326T	POLR3A	NM_007055.4(POLR3A):c.2658T>A:p.Tyr886Ter	coding	Pathogenic
10	77999668	C	A	C77999668A	POLR3A	NM_007055.4(POLR3A):c.2616+313G>T	noncoding	Benign
10	78000243	T	G	T78000243G	POLR3A	NM_007055.4(POLR3A):c.2479-125A>C	noncoding	Benign
10	78000928	T	G	T78000928G	POLR3A	NM_007055.4(POLR3A):c.2478+48A>C	noncoding	Benign
10	78001032	G	A	G78001032A	POLR3A	NM_007055.4(POLR3A):c.2422C>T:p.Arg808Ter	coding	Pathogenic/Likely_pathogenic
10	78001109	C	G	C78001109G	POLR3A	NM_007055.4(POLR3A):c.2360-15G>C	noncoding	Benign
10	78004663	C	T	C78004663T	POLR3A	NM_007055.4(POLR3A):c.2247+53G>A	noncoding	Benign
10	78004800	G	T	G78004800T	POLR3A	NM_007055.4(POLR3A):c.2163C>A:p.Tyr721Ter	coding	Pathogenic
10	78007458	G	A	G78007458A	POLR3A	NM_007055.4(POLR3A):c.2074+244C>T	noncoding	Benign
10	78007745	T	C	T78007745C	POLR3A	NM_007055.4(POLR3A):c.2031A>G:p.Ala677=	coding	Benign/Likely_benign
10	78007934	A	C	A78007934C	POLR3A	NM_007055.4(POLR3A):c.1910-68T>G	noncoding	Benign
10	78009245	C	A	C78009245A	POLR3A	NM_007055.4(POLR3A):c.1909+292G>T	noncoding	Benign
10	78010673	C	T	C78010673T	POLR3A	NM_007055.4(POLR3A):c.1573-133G>A	noncoding	Benign
10	78010792	C	T	C78010792T	POLR3A	NM_007055.4(POLR3A):c.1573-252G>A	noncoding	Benign
10	78017541	C	A	C78017541A	POLR3A	NM_007055.4(POLR3A):c.1431+34G>T	noncoding	Benign
10	78017613	G	A	G78017613A	POLR3A	NM_007055.4(POLR3A):c.1393C>T:p.Gln465Ter	coding	Pathogenic
10	78019392	G	A	G78019392A	POLR3A	NM_007055.4(POLR3A):c.1186-127C>T	noncoding	Benign
10	78021257	A	G	A78021257G	POLR3A	NM_007055.4(POLR3A):c.1185+289T>C	noncoding	Benign
10	78022126	G	C	G78022126C	POLR3A	NM_007055.4(POLR3A):c.885+19C>G	noncoding	Benign/Likely_benign
10	78022518	T	C	T78022518C	POLR3A	NM_007055.4(POLR3A):c.646-134A>G	noncoding	Benign
10	78022523	T	C	T78022523C	POLR3A	NM_007055.4(POLR3A):c.646-139A>G	noncoding	Benign
10	78024495	C	T	C78024495T	POLR3A	NM_007055.4(POLR3A):c.645+54G>A	noncoding	Benign
10	78024812	T	C	T78024812C	POLR3A	NM_007055.4(POLR3A):c.491-109A>G	noncoding	Benign
10	78025161	G	T	G78025161T	POLR3A	NM_007055.4(POLR3A):c.319-19C>A	noncoding	Benign
10	78026067	T	G	T78026067G	POLR3A	NM_007055.4(POLR3A):c.180+27A>C	noncoding	Benign
10	78026074	G	A	G78026074A	POLR3A	NM_007055.4(POLR3A):c.180+20C>T	noncoding	Benign
10	78026248	G	C	G78026248C	POLR3A	NM_007055.4(POLR3A):c.45-19C>G	noncoding	Benign
10	78029070	T	C	T78029070C	POLR3A	NM_007055.4(POLR3A):c.44+294A>G	noncoding	Benign
10	78029704	C	T	C78029704T	POLR3A	Single_allele	noncoding	Benign
10	78033903	T	C	T78033903C	RPS24	NM_033022.4(RPS24):c.2T>C:p.Met1Thr	coding	Pathogenic
10	78033930	C	T	C78033930T	RPS24	NM_033022.4(RPS24):c.3+26C>T	noncoding	Benign
10	78034119	C	T	C78034119T	RPS24	NM_033022.4(RPS24):c.3+215C>T	noncoding	Benign
10	78034124	C	T	C78034124T	RPS24	NM_033022.4(RPS24):c.3+220C>T	noncoding	Benign
10	78035822	T	G	T78035822G	RPS24	NM_033022.4(RPS24):c.279+102T>G	noncoding	Benign
10	78036923	A	T	A78036923T	RPS24	NM_033022.4(RPS24):c.280-271A>T	noncoding	Benign
10	78036968	G	C	G78036968C	RPS24	NM_033022.4(RPS24):c.280-226G>C	noncoding	Benign
10	78037045	C	T	C78037045T	RPS24	NM_033022.4(RPS24):c.280-149C>T	noncoding	Benign
10	78037220	C	T	C78037220T	RPS24	NM_033022.4(RPS24):c.306C>T:p.Thr102=	coding	Benign
10	78037926	G	T	G78037926T	RPS24	NM_033022.4(RPS24):c.390+622G>T	noncoding	Benign
10	78037932	C	T	C78037932T	RPS24	NM_033022.4(RPS24):c.390+628C>T	noncoding	Benign
10	78054561	T	C	T78054561C	RPS24	NM_001142285.2(RPS24):c.421T>C:p.Leu141_Gly142=	coding	Benign
10	78054989	C	T	C78054989T	RPS24	NM_001142285.2(RPS24):c.849C>T:p.Cys283_Leu284=	coding	Benign
10	79184473	T	G	T79184473G	ZMIZ1	NM_020338.4(ZMIZ1):c.-49-17111T>G	noncoding	Benign
10	79216247	C	T	C79216247T	ZMIZ1	NM_020338.4(ZMIZ1):c.253C>T:p.Arg85Ter	coding	Pathogenic
10	79277164	T	C	T79277164C	ZMIZ1	NM_020338.4(ZMIZ1):c.281-17T>C	noncoding	Benign
10	79293491	G	A	G79293491A	ZMIZ1	NM_020338.4(ZMIZ1):c.1068G>A:p.Thr356_Pro357=	coding	Benign
10	79300717	T	C	T79300717C	ZMIZ1	NM_020338.4(ZMIZ1):c.1809-15T>C	noncoding	Benign
10	79300799	G	T	G79300799T	ZMIZ1	NM_020338.4(ZMIZ1):c.1876G>T:p.Ala626Ser	coding	Benign
10	79300804	G	A	G79300804A	ZMIZ1	NM_020338.4(ZMIZ1):c.1881G>A:p.Ser627=	coding	Benign
10	79305193	G	C	G79305193C	ZMIZ1	NM_020338.4(ZMIZ1):c.2316G>C:p.Leu772=	coding	Benign
10	79305614	C	G	C79305614G	ZMIZ1	NM_020338.4(ZMIZ1):c.2423+13C>G	noncoding	Benign
10	79305618	C	T	C79305618T	ZMIZ1	NM_020338.4(ZMIZ1):c.2423+17C>T	noncoding	Benign
10	79306181	C	T	C79306181T	ZMIZ1	NM_020338.4(ZMIZ1):c.2505C>T:p.Asp835=	coding	Benign
10	79307511	G	A	G79307511A	ZMIZ1	NM_020338.4(ZMIZ1):c.2775G>A:p.Pro925=	coding	Benign
10	79312766	G	C	G79312766C	ZMIZ1	NM_020338.4(ZMIZ1):c.*17G>C	noncoding	Benign
10	79611665	A	T	A79611665T	SFTPA1	NM_005411.5(SFTPA1):c.-23-138A>T	noncoding	Benign
10	79612689	T	C	T79612689C	SFTPA1	NM_005411.5(SFTPA1):c.292+258T>C	noncoding	Benign
10	79612746	T	A	T79612746A	SFTPA1	NM_005411.5(SFTPA1):c.292+315T>A	noncoding	Benign
10	79612931	A	G	A79612931G	SFTPA1	NM_005411.5(SFTPA1):c.293-258A>G	noncoding	Benign
10	79612952	G	A	G79612952A	SFTPA1	NM_005411.5(SFTPA1):c.293-237G>A	noncoding	Benign
10	79612956	G	T	G79612956T	SFTPA1	NM_005411.5(SFTPA1):c.293-233G>T	noncoding	Benign
10	79613426	G	C	G79613426C	SFTPA1	NM_005411.5(SFTPA1):c.370+160G>C	noncoding	Benign
10	79613898	G	A	G79613898A	SFTPA1	NM_005411.5(SFTPA1):c.532G>A:p.Val178Met	coding	Pathogenic
10	79613988	T	C	T79613988C	SFTPA1	NM_005411.5(SFTPA1):c.622T>C:p.Tyr208His	coding	Pathogenic
10	79613997	T	C	T79613997C	SFTPA1	NM_005411.5(SFTPA1):c.631T>C:p.Trp211Arg	coding	Pathogenic
10	79614039	G	A	G79614039A	SFTPA1	NM_005411.5(SFTPA1):c.673G>A:p.Val225Met	coding	Pathogenic
10	79614326	T	C	T79614326C	SFTPA1	NM_005411.5(SFTPA1):c.*213T>C	noncoding	Benign
10	79614327	C	A	C79614327A	SFTPA1	NM_005411.5(SFTPA1):c.*214C>A	noncoding	Benign
10	79614362	C	A	C79614362A	SFTPA1	NM_005411.5(SFTPA1):c.*249C>A	noncoding	Benign
10	79711875	T	C	T79711875C	NUTM2B	NM_001278495.2(NUTM2B):c.2027T>C:p.Met676Thr	coding	Benign/Likely_benign
10	79938341	G	A	G79938341A	SFTPD	NM_003019.5(SFTPD):c.752-113C>T	noncoding	Benign
10	79941767	T	C	T79941767C	SFTPD	NM_003019.5(SFTPD):c.550+187A>G	noncoding	Benign
10	80156034	T	C	T80156034C	ANXA11	NM_145868.2(ANXA11):c.1459-122A>G	noncoding	Benign
10	80157564	G	A	G80157564A	ANXA11	NM_145868.2(ANXA11):c.1458+77C>T	noncoding	Benign
10	80157637	G	A	G80157637A	ANXA11	NM_145868.2(ANXA11):c.1458+4C>T	noncoding	Benign
10	80157873	T	C	T80157873C	ANXA11	NM_145868.2(ANXA11):c.1335+94A>G	noncoding	Benign
10	80157950	A	C	A80157950C	ANXA11	NM_145868.2(ANXA11):c.1335+17T>G	noncoding	Benign
10	80157952	A	G	A80157952G	ANXA11	NM_145868.2(ANXA11):c.1335+15T>C	noncoding	Benign
10	80157991	C	T	C80157991T	ANXA11	NM_145868.2(ANXA11):c.1311G>A:p.Ala437=	coding	Benign
10	80158201	T	C	T80158201C	ANXA11	NM_145868.2(ANXA11):c.1277-176A>G	noncoding	Benign
10	80159020	C	A	C80159020A	ANXA11	NM_145868.2(ANXA11):c.1276+80G>T	noncoding	Benign
10	80159124	G	A	G80159124A	ANXA11	NM_145868.2(ANXA11):c.1252C>T:p.Leu418=	coding	Benign
10	80159152	C	T	C80159152T	ANXA11	NM_145868.2(ANXA11):c.1224G>A:p.Lys408=	coding	Benign
10	80159200	G	A	G80159200A	ANXA11	NM_145868.2(ANXA11):c.1181-5C>T	noncoding	Benign
10	80161797	T	C	T80161797C	ANXA11	NM_145868.2(ANXA11):c.1180+138A>G	noncoding	Benign
10	80161959	G	A	G80161959A	ANXA11	NM_145868.2(ANXA11):c.1156C>T:p.Arg386Trp	coding	Benign
10	80162036	G	C	G80162036C	ANXA11	NM_145868.2(ANXA11):c.1087-8C>G	noncoding	Benign
10	80162054	T	C	T80162054C	ANXA11	NM_145868.2(ANXA11):c.1087-26A>G	noncoding	Benign
10	80162162	T	C	T80162162C	ANXA11	NM_145868.2(ANXA11):c.1087-134A>G	noncoding	Benign
10	80163215	G	A	G80163215A	ANXA11	NM_145868.2(ANXA11):c.1086+134C>T	noncoding	Benign
10	80163367	G	A	G80163367A	ANXA11	NM_145868.2(ANXA11):c.1068C>T:p.Leu356=	coding	Benign
10	80163449	T	G	T80163449G	ANXA11	NM_145868.2(ANXA11):c.1030-44A>C	noncoding	Benign
10	80163601	G	T	G80163601T	ANXA11	NM_145868.2(ANXA11):c.962C>A:p.Thr321Asn	coding	Benign
10	80163700	G	C	G80163700C	ANXA11	NM_145868.2(ANXA11):c.950-87C>G	noncoding	Benign
10	80164097	C	T	C80164097T	ANXA11	NM_145868.2(ANXA11):c.905G>A:p.Arg302His	coding	Benign
10	80164203	G	C	G80164203C	ANXA11	NM_145868.2(ANXA11):c.859-60C>G	noncoding	Benign
10	80164205	G	A	G80164205A	ANXA11	NM_145868.2(ANXA11):c.859-62C>T	noncoding	Benign
10	80164299	A	G	A80164299G	ANXA11	NM_145868.2(ANXA11):c.859-156T>C	noncoding	Benign
10	80166029	C	T	C80166029T	ANXA11	NM_145868.2(ANXA11):c.858+55G>A	noncoding	Benign
10	80166037	C	T	C80166037T	ANXA11	NM_145868.2(ANXA11):c.858+47G>A	noncoding	Benign
10	80166039	C	T	C80166039T	ANXA11	NM_145868.2(ANXA11):c.858+45G>A	noncoding	Benign
10	80166042	G	A	G80166042A	ANXA11	NM_145868.2(ANXA11):c.858+42C>T	noncoding	Benign
10	80166110	T	C	T80166110C	ANXA11	NM_145868.2(ANXA11):c.832A>G:p.Ile278Val	coding	Benign
10	80166415	A	G	A80166415G	ANXA11	NM_145868.2(ANXA11):c.745-218T>C	noncoding	Benign
10	80166782	C	T	C80166782T	ANXA11	NM_145868.2(ANXA11):c.744+108G>A	noncoding	Benign
10	80166870	G	T	G80166870T	ANXA11	NM_145868.2(ANXA11):c.744+20C>A	noncoding	Benign
10	80166946	G	A	G80166946A	ANXA11	NM_145868.2(ANXA11):c.688C>T:p.Arg230Cys	coding	Benign
10	80166962	A	G	A80166962G	ANXA11	NM_145868.2(ANXA11):c.672T>C:p.Ile224=	coding	Benign
10	80166994	G	C	G80166994C	ANXA11	NM_145868.2(ANXA11):c.650-10C>G	noncoding	Benign
10	80167257	G	A	G80167257A	ANXA11	NM_145868.2(ANXA11):c.618C>T:p.Ala206=	coding	Benign
10	80167303	C	T	C80167303T	ANXA11	NM_145868.2(ANXA11):c.572G>A:p.Arg191Gln	coding	Benign
10	80167463	C	T	C80167463T	ANXA11	NM_145868.2(ANXA11):c.562-150G>A	noncoding	Benign
10	80168999	C	T	C80168999T	ANXA11	NM_145868.2(ANXA11):c.531G>A:p.Gly177=	coding	Benign
10	80169056	C	A	C80169056A	ANXA11	NM_145868.2(ANXA11):c.474G>T:p.Val158=	coding	Benign
10	80169074	G	A	G80169074A	ANXA11	NM_145868.2(ANXA11):c.456C>T:p.Tyr152=	coding	Benign/Likely_benign
10	80169122	G	A	G80169122A	ANXA11	NM_145868.2(ANXA11):c.408C>T:p.Pro136=	coding	Benign
10	80169140	G	A	G80169140A	ANXA11	NM_145868.2(ANXA11):c.390C>T:p.Gly130=	coding	Benign
10	80169208	G	A	G80169208A	ANXA11	NM_145868.2(ANXA11):c.322C>T:p.Pro108Ser	coding	Benign
10	80169227	A	G	A80169227G	ANXA11	NM_145868.2(ANXA11):c.303T>C:p.Pro101=	coding	Benign
10	80169265	C	T	C80169265T	ANXA11	NM_145868.2(ANXA11):c.265G>A:p.Gly89Ser	coding	Benign
10	80169266	G	A	G80169266A	ANXA11	NM_145868.2(ANXA11):c.264C>T:p.Gly88=	coding	Benign
10	80169339	G	A	G80169339A	ANXA11	NM_145868.2(ANXA11):c.191C>T:p.Thr64Ile	coding	Benign
10	80170686	C	A	C80170686A	ANXA11	NM_145868.2(ANXA11):c.171+114G>T	noncoding	Benign
10	80170705	T	C	T80170705C	ANXA11	NM_145868.2(ANXA11):c.171+95A>G	noncoding	Benign
10	80170781	G	A	G80170781A	ANXA11	NM_145868.2(ANXA11):c.171+19C>T	noncoding	Benign
10	80172697	C	G	C80172697G	ANXA11	NM_145868.2(ANXA11):c.55+110G>C	noncoding	Benign
10	80172753	C	T	C80172753T	ANXA11	NM_145868.2(ANXA11):c.55+54G>A	noncoding	Benign
10	80172839	G	A	G80172839A	ANXA11	NM_145868.2(ANXA11):c.23C>T:p.Pro8Leu	coding	Benign
10	80172924	C	T	C80172924T	ANXA11	NM_145868.2(ANXA11):c.-8-55G>A	noncoding	Benign
10	80173034	T	C	T80173034C	ANXA11	NM_145868.2(ANXA11):c.-8-165A>G	noncoding	Benign
10	80273927	G	A	G80273927A	MAT1A	NM_000429.3(MAT1A):c.1086-44C>T	noncoding	Benign
10	80274505	C	T	C80274505T	MAT1A	NM_000429.3(MAT1A):c.1085+15G>A	noncoding	Benign/Likely_benign
10	80274919	A	G	A80274919G	MAT1A	NM_000429.3(MAT1A):c.951+98T>C	noncoding	Benign
10	80275394	A	T	A80275394T	MAT1A	NM_000429.3(MAT1A):c.769-195T>A	noncoding	Benign
10	80275417	T	C	T80275417C	MAT1A	NM_000429.3(MAT1A):c.769-218A>G	noncoding	Benign
10	80276167	C	A	C80276167A	MAT1A	NM_000429.3(MAT1A):c.768+209G>T	noncoding	Benign
10	80276549	G	A	G80276549A	MAT1A	NM_000429.3(MAT1A):c.595C>T:p.Arg199Cys	coding	Pathogenic
10	80276641	C	T	C80276641T	MAT1A	NM_000429.3(MAT1A):c.550-47G>A	noncoding	Benign
10	80280193	G	A	G80280193A	MAT1A	NM_000429.3(MAT1A):c.529C>T:p.Arg177Trp	coding	Pathogenic/Likely_pathogenic
10	80280367	G	A	G80280367A	MAT1A	NM_000429.3(MAT1A):c.406-51C>T	noncoding	Benign
10	80280406	C	T	C80280406T	MAT1A	NM_000429.3(MAT1A):c.406-90G>A	noncoding	Benign
10	80280590	A	G	A80280590G	MAT1A	NM_000429.3(MAT1A):c.405+90T>C	noncoding	Benign
10	80280846	A	C	A80280846C	MAT1A	NM_000429.3(MAT1A):c.293-54T>G	noncoding	Benign
10	80280846	A	G	A80280846G	MAT1A	NM_000429.3(MAT1A):c.293-54T>C	noncoding	Benign
10	80280896	C	G	C80280896G	MAT1A	NM_000429.3(MAT1A):c.293-104G>C	noncoding	Benign
10	80283670	C	T	C80283670T	MAT1A	NM_000429.3(MAT1A):c.292+246G>A	noncoding	Benign
10	80283820	G	A	G80283820A	MAT1A	NM_000429.3(MAT1A):c.292+96C>T	noncoding	Benign
10	80284344	T	G	T80284344G	MAT1A	NM_000429.3(MAT1A):c.170-306A>C	noncoding	Benign
10	80285390	T	C	T80285390C	MAT1A	NM_000429.3(MAT1A):c.169+122A>G	noncoding	Benign
10	80289222	C	T	C80289222T	MAT1A	NM_000429.3(MAT1A):c.91+111G>A	noncoding	Benign
10	80289847	A	G	A80289847G	MAT1A	Single_allele	noncoding	Benign
10	84194778	G	A	G84194778A	CDHR1	NM_033100.4(CDHR1):c.18G>A:p.Trp6Ter	coding	Pathogenic
10	84194861	A	G	A84194861G	CDHR1	NM_033100.4(CDHR1):c.55+46A>G	noncoding	Benign
10	84195684	C	T	C84195684T	CDHR1	NM_033100.4(CDHR1):c.151+95C>T	noncoding	Benign
10	84197925	A	C	A84197925C	CDHR1	NM_033100.4(CDHR1):c.348+89A>C	noncoding	Benign
10	84198983	T	C	T84198983C	CDHR1	NM_033100.4(CDHR1):c.349-49T>C	noncoding	Benign
10	84199038	G	T	G84199038T	CDHR1	NM_033100.4(CDHR1):c.355G>T:p.Glu119Ter	coding	Pathogenic
10	84199085	G	T	G84199085T	CDHR1	NM_033100.4(CDHR1):c.402G>T:p.Arg134Ser	coding	Benign
10	84200518	A	C	A84200518C	CDHR1	NM_033100.4(CDHR1):c.439-83A>C	noncoding	Benign
10	84200540	C	T	C84200540T	CDHR1	NM_033100.4(CDHR1):c.439-61C>T	noncoding	Benign
10	84200685	C	T	C84200685T	CDHR1	NM_033100.4(CDHR1):c.523C>T:p.Gln175Ter	coding	Pathogenic
10	84200688	G	A	G84200688A	CDHR1	NM_033100.4(CDHR1):c.525+1G>A	coding	Pathogenic
10	84200688	G	T	G84200688T	CDHR1	NM_033100.4(CDHR1):c.525+1G>T	coding	Pathogenic
10	84201860	G	A	G84201860A	CDHR1	NM_033100.4(CDHR1):c.579G>A:p.Gln193=	coding	Benign
10	84202002	A	G	A84202002G	CDHR1	NM_033100.4(CDHR1):c.639+82A>G	noncoding	Benign
10	84202894	T	G	T84202894G	CDHR1	NM_033100.4(CDHR1):c.640-86T>G	noncoding	Benign
10	84203108	C	G	C84203108G	CDHR1	NM_033100.4(CDHR1):c.768C>G:p.Tyr256Ter	coding	Pathogenic
10	84204687	G	T	G84204687T	CDHR1	NM_033100.4(CDHR1):c.862+82G>T	noncoding	Benign
10	84208210	C	T	C84208210T	CDHR1	NM_033100.4(CDHR1):c.1000C>T:p.Gln334Ter	coding	Pathogenic
10	84208780	C	T	C84208780T	CDHR1	NM_033100.4(CDHR1):c.1219C>T:p.Arg407Ter	coding	Pathogenic
10	84211591	G	A	G84211591A	CDHR1	NM_033100.4(CDHR1):c.1486-57G>A	noncoding	Benign
10	84211673	G	A	G84211673A	CDHR1	NM_033100.4(CDHR1):c.1511G>A:p.Trp504Ter	coding	Pathogenic
10	84211678	G	T	G84211678T	CDHR1	NM_033100.4(CDHR1):c.1516G>T:p.Glu506Ter	coding	Pathogenic
10	84211689	T	G	T84211689G	CDHR1	NM_033100.4(CDHR1):c.1527T>G:p.Tyr509Ter	coding	Pathogenic
10	84212345	C	G	C84212345G	CDHR1	NM_033100.4(CDHR1):c.1720C>G:p.Pro574Ala	coding	Pathogenic
10	84212369	A	T	A84212369T	CDHR1	NM_033100.4(CDHR1):c.1744A>T:p.Lys582Ter	coding	Pathogenic
10	84213365	G	A	G84213365A	CDHR1	NM_033100.4(CDHR1):c.2040+17G>A	noncoding	Benign
10	84214926	C	T	C84214926T	CDHR1	NM_033100.4(CDHR1):c.*305C>T	coding	Benign
10	84219183	G	A	G84219183A	CDHR1	NM_001171971.3(CDHR1):c.2145G>A:p.Leu715_Phe716=	coding	Benign
10	84254459	C	T	C84254459T	RGR	NM_001012720.2(RGR):c.630+16C>T	noncoding	Benign
10	85724625	C	T	C85724625T	GRID1	NM_017551.3(GRID1):c.1585G>A:p.Val529Ile	coding	Benign
10	85729560	T	C	T85729560C	GRID1	NM_017551.3(GRID1):c.1288A>G:p.Met430Val	coding	Benign
10	86679347	C	T	C86679347T	LDB3	NM_007078.3(LDB3):c.94-20C>T	noncoding	Benign/Likely_benign
10	86679432	C	T	C86679432T	LDB3	NM_007078.3(LDB3):c.159C>T:p.Asp53=	coding	Benign/Likely_benign
10	86679938	A	G	A86679938G	LDB3	NM_007078.3(LDB3):c.246-144A>G	noncoding	Benign
10	86681607	C	T	C86681607T	LDB3	NM_007078.3(LDB3):c.493C>T:p.Arg165Trp	coding	Benign/Likely_benign
10	86681951	C	T	C86681951T	LDB3	NM_007078.3(LDB3):c.689+148C>T	noncoding	Benign
10	86686887	T	C	T86686887C	LDB3	NM_007078.3(LDB3):c.690-5009T>C	noncoding	Benign
10	86706534	C	A	C86706534A	LDB3	NM_007078.3(LDB3):c.900C>A:p.Thr300=	coding	Benign/Likely_benign
10	86706953	G	A	G86706953A	LDB3	NM_007078.3(LDB3):c.1085+234G>A	noncoding	Benign
10	86710074	G	A	G86710074A	LDB3	NM_007078.3(LDB3):c.1231+24G>A	noncoding	Benign/Likely_benign
10	86716400	T	C	T86716400C	LDB3	NM_007078.3(LDB3):c.1305T>C:p.Pro435=	coding	Benign
10	86716401	G	C	G86716401C	LDB3	NM_007078.3(LDB3):c.1306G>C:p.Ala436Pro	coding	Benign
10	86716413	T	C	T86716413C	LDB3	NM_007078.3(LDB3):c.1318T>C:p.Ser440Pro	coding	Benign/Likely_benign
10	86716748	C	T	C86716748T	LDB3	NM_007078.3(LDB3):c.1653C>T:p.Cys551=	coding	Benign/Likely_benign
10	86718010	T	A	T86718010A	LDB3	NM_007078.3(LDB3):c.1723T>A:p.Phe575Ile	coding	Pathogenic
10	86718105	T	A	T86718105A	LDB3	NM_007078.3(LDB3):c.1818T>A:p.Phe606Leu	coding	Pathogenic
10	86726249	C	T	C86726249T	LDB3	NM_007078.3(LDB3):c.2091C>T:p.Cys697=	coding	Benign/Likely_benign
10	86732922	C	T	C86732922T	LDB3	NM_007078.3(LDB3):c.2130C>T:p.Tyr710=	coding	Benign/Likely_benign
10	86732938	C	T	C86732938T	LDB3	NM_007078.3(LDB3):c.2146C>T:p.Pro716Ser	coding	Pathogenic
10	86733041	G	A	G86733041A	LDB3	NM_007078.3(LDB3):c.*65G>A	noncoding	Benign
10	86756209	G	A	G86756209A	BMPR1A	Single_allele	noncoding	Benign
10	86756333	G	C	G86756333C	BMPR1A	Single_allele	noncoding	Benign
10	86756585	C	T	C86756585T	BMPR1A	Single_allele	noncoding	Benign
10	86756937	G	C	G86756937C	BMPR1A	NM_004329.3(BMPR1A):c.-268+18G>C	noncoding	Benign
10	86757323	G	A	G86757323A	BMPR1A	NM_004329.3(BMPR1A):c.-268+404G>A	noncoding	Benign
10	86758698	T	G	T86758698G	BMPR1A	NM_004329.3(BMPR1A):c.-268+1779T>G	noncoding	Benign
10	86758836	C	T	C86758836T	BMPR1A	NM_004329.3(BMPR1A):c.-268+1917C>T	noncoding	Benign
10	86759199	G	A	G86759199A	BMPR1A	NM_004329.3(BMPR1A):c.-268+2280G>A	noncoding	Benign
10	86759239	C	T	C86759239T	BMPR1A	NM_004329.3(BMPR1A):c.-268+2320C>T	noncoding	Benign
10	86759817	G	C	G86759817C	BMPR1A	NM_004329.3(BMPR1A):c.-268+2898G>C	noncoding	Benign
10	86759957	C	T	C86759957T	BMPR1A	NM_004329.3(BMPR1A):c.-268+3038C>T	noncoding	Benign
10	86760072	T	C	T86760072C	BMPR1A	NM_004329.3(BMPR1A):c.-268+3153T>C	noncoding	Benign
10	86760652	A	G	A86760652G	BMPR1A	NM_004329.3(BMPR1A):c.-268+3733A>G	noncoding	Benign
10	86761006	A	G	A86761006G	BMPR1A	NM_004329.3(BMPR1A):c.-268+4087A>G	noncoding	Benign
10	86762214	T	A	T86762214A	BMPR1A	NM_004329.3(BMPR1A):c.-268+5295T>A	noncoding	Benign
10	86762838	C	T	C86762838T	BMPR1A	NM_004329.3(BMPR1A):c.-268+5919C>T	noncoding	Benign
10	86763185	C	T	C86763185T	BMPR1A	NM_004329.3(BMPR1A):c.-268+6266C>T	noncoding	Benign
10	86763204	G	A	G86763204A	BMPR1A	NM_004329.3(BMPR1A):c.-268+6285G>A	noncoding	Benign
10	86763380	C	T	C86763380T	BMPR1A	NM_004329.3(BMPR1A):c.-268+6461C>T	noncoding	Benign
10	86763381	G	A	G86763381A	BMPR1A	NM_004329.3(BMPR1A):c.-268+6462G>A	noncoding	Benign
10	86764336	A	G	A86764336G	BMPR1A	NM_004329.3(BMPR1A):c.-268+7417A>G	noncoding	Benign
10	86764416	G	A	G86764416A	BMPR1A	NM_004329.3(BMPR1A):c.-268+7497G>A	noncoding	Benign
10	86764452	T	G	T86764452G	BMPR1A	NM_004329.3(BMPR1A):c.-268+7533T>G	noncoding	Benign
10	86764691	G	C	G86764691C	BMPR1A	NM_004329.3(BMPR1A):c.-268+7772G>C	noncoding	Benign
10	86765548	A	G	A86765548G	BMPR1A	NM_004329.3(BMPR1A):c.-268+8629A>G	noncoding	Benign
10	86765731	A	G	A86765731G	BMPR1A	NM_004329.3(BMPR1A):c.-268+8812A>G	noncoding	Benign
10	86766277	G	C	G86766277C	BMPR1A	NM_004329.3(BMPR1A):c.-268+9358G>C	noncoding	Benign
10	86766506	G	A	G86766506A	BMPR1A	NM_004329.3(BMPR1A):c.-268+9587G>A	noncoding	Benign
10	86767164	A	C	A86767164C	BMPR1A	NM_004329.3(BMPR1A):c.-268+10245A>C	noncoding	Benign
10	86767730	T	C	T86767730C	BMPR1A	NM_004329.3(BMPR1A):c.-268+10811T>C	noncoding	Benign
10	86876043	A	T	A86876043T	BMPR1A	NM_004329.3(BMPR1A):c.25A>T:p.Arg9Ter	coding	Pathogenic
10	86876099	C	G	C86876099G	BMPR1A	NM_004329.3(BMPR1A):c.67+14C>G	noncoding	Benign
10	86876131	C	T	C86876131T	BMPR1A	NM_004329.3(BMPR1A):c.67+46C>T	noncoding	Benign
10	86890006	C	T	C86890006T	BMPR1A	NM_004329.3(BMPR1A):c.68-56C>T	noncoding	Benign
10	86890050	A	G	A86890050G	BMPR1A	NM_004329.3(BMPR1A):c.68-12A>G	noncoding	Benign/Likely_benign
10	86890061	G	A	G86890061A	BMPR1A	NM_004329.3(BMPR1A):c.68-1G>A	noncoding	Pathogenic/Likely_pathogenic
10	86890061	G	C	G86890061C	BMPR1A	NM_004329.3(BMPR1A):c.68-1G>C	noncoding	Pathogenic
10	86892005	A	G	A86892005G	BMPR1A	NM_004329.3(BMPR1A):c.231-122A>G	noncoding	Benign
10	86892196	T	A	T86892196A	BMPR1A	NM_004329.3(BMPR1A):c.300T>A:p.Cys100Ter	coding	Pathogenic
10	86899830	T	C	T86899830C	BMPR1A	NM_004329.3(BMPR1A):c.370T>C:p.Cys124Arg	coding	Pathogenic/Likely_pathogenic
10	86899854	C	T	C86899854T	BMPR1A	NM_004329.3(BMPR1A):c.394C>T:p.Gln132Ter	coding	Pathogenic
10	86900138	T	C	T86900138C	BMPR1A	NM_004329.3(BMPR1A):c.530+12T>C	noncoding	Benign/Likely_benign
10	86900442	G	A	G86900442A	BMPR1A	NM_004329.3(BMPR1A):c.530+316G>A	noncoding	Benign
10	86912116	A	G	A86912116G	BMPR1A	NM_004329.3(BMPR1A):c.531-124A>G	noncoding	Benign
10	86912249	C	A	C86912249A	BMPR1A	NM_004329.3(BMPR1A):c.540C>A:p.Cys180Ter	coding	Pathogenic
10	86917133	G	A	G86917133A	BMPR1A	NM_004329.3(BMPR1A):c.676-1G>A	noncoding	Pathogenic/Likely_pathogenic
10	86918991	A	T	A86918991T	BMPR1A	NM_004329.3(BMPR1A):c.869-181A>T	noncoding	Benign
10	86919360	C	T	C86919360T	BMPR1A	NM_004329.3(BMPR1A):c.1057C>T:p.Gln353Ter	coding	Pathogenic
10	86921608	A	T	A86921608T	BMPR1A	NM_004329.3(BMPR1A):c.1255A>T:p.Lys419Ter	coding	Pathogenic
10	86921620	C	T	C86921620T	BMPR1A	NM_004329.3(BMPR1A):c.1267C>T:p.Gln423Ter	coding	Pathogenic
10	86923387	G	T	G86923387T	BMPR1A	NM_004329.3(BMPR1A):c.1354G>T:p.Glu452Ter	coding	Pathogenic
10	86923494	G	A	G86923494A	BMPR1A	NM_004329.3(BMPR1A):c.1461G>A:p.Trp487Ter	coding	Pathogenic
10	86923593	G	C	G86923593C	BMPR1A	NM_004329.3(BMPR1A):c.1474-1G>C	noncoding	Pathogenic
10	87051781	C	T	C87051781T	GLUD1	NM_005271.5(GLUD1):c.1647G>A:p.Val549=	coding	Benign
10	87053392	T	C	T87053392C	GLUD1	NM_005271.5(GLUD1):c.1507A>G:p.Lys503Glu	coding	Pathogenic
10	87060250	G	C	G87060250C	GLUD1	NM_005271.5(GLUD1):c.1198-9C>G	noncoding	Benign
10	87513255	T	A	T87513255A	MINPP1	NM_004897.5(MINPP1):c.933+34T>A	noncoding	Benign
10	87521094	T	G	T87521094G	MINPP1	NM_004897.5(MINPP1):c.992T>G:p.Ile331Ser	coding	Pathogenic/Likely_pathogenic
10	87659386	G	C	G87659386C	PAPSS2	Single_allele	noncoding	Benign
10	87659483	T	C	T87659483C	PAPSS2	Single_allele	noncoding	Benign
10	87659914	C	T	C87659914T	PAPSS2	NM_001015880.2(PAPSS2):c.-68C>T	noncoding	Benign
10	87660026	G	A	G87660026A	PAPSS2	NM_001015880.2(PAPSS2):c.27+18G>A	noncoding	Benign
10	87660116	C	G	C87660116G	PAPSS2	NM_001015880.2(PAPSS2):c.27+108C>G	noncoding	Benign
10	87660153	A	G	A87660153G	PAPSS2	NM_001015880.2(PAPSS2):c.27+145A>G	noncoding	Benign
10	87660214	C	T	C87660214T	PAPSS2	NM_001015880.2(PAPSS2):c.27+206C>T	noncoding	Benign
10	87660300	C	T	C87660300T	PAPSS2	NM_001015880.2(PAPSS2):c.27+292C>T	noncoding	Benign
10	87709554	T	C	T87709554C	PAPSS2	NM_001015880.2(PAPSS2):c.145+241T>C	noncoding	Benign
10	87713151	C	G	C87713151G	PAPSS2	NM_001015880.2(PAPSS2):c.222C>G:p.Tyr74Ter	coding	Pathogenic/Likely_pathogenic
10	87713391	G	A	G87713391A	PAPSS2	NM_001015880.2(PAPSS2):c.381+81G>A	noncoding	Benign
10	87713720	A	G	A87713720G	PAPSS2	NM_001015880.2(PAPSS2):c.382-324A>G	noncoding	Benign
10	87714003	G	A	G87714003A	PAPSS2	NM_001015880.2(PAPSS2):c.382-41G>A	noncoding	Benign
10	87714048	G	A	G87714048A	PAPSS2	NM_001015880.2(PAPSS2):c.386G>A:p.Arg129His	coding	Pathogenic
10	87714203	C	A	C87714203A	PAPSS2	NM_001015880.2(PAPSS2):c.520+21C>A	noncoding	Benign
10	87714315	C	T	C87714315T	PAPSS2	NM_001015880.2(PAPSS2):c.520+133C>T	noncoding	Benign
10	87714531	A	G	A87714531G	PAPSS2	NM_001015880.2(PAPSS2):c.521-214A>G	noncoding	Benign
10	87714984	G	C	G87714984C	PAPSS2	NM_001015880.2(PAPSS2):c.640-1G>C	noncoding	Pathogenic
10	87715057	C	T	C87715057T	PAPSS2	NM_001015880.2(PAPSS2):c.712C>T:p.Arg238Ter	coding	Pathogenic/Likely_pathogenic
10	87715069	G	T	G87715069T	PAPSS2	NM_001015880.2(PAPSS2):c.724G>T:p.Glu242Ter	coding	Pathogenic
10	87715726	T	C	T87715726C	PAPSS2	NM_001015880.2(PAPSS2):c.754-6T>C	noncoding	Benign
10	87715860	G	A	G87715860A	PAPSS2	NM_001015880.2(PAPSS2):c.865+17G>A	noncoding	Benign
10	87715935	A	G	A87715935G	PAPSS2	NM_001015880.2(PAPSS2):c.865+92A>G	noncoding	Benign
10	87715960	G	A	G87715960A	PAPSS2	NM_001015880.2(PAPSS2):c.865+117G>A	noncoding	Benign
10	87722022	G	A	G87722022A	PAPSS2	NM_001015880.2(PAPSS2):c.880+252G>A	noncoding	Benign
10	87727048	A	G	A87727048G	PAPSS2	NM_001015880.2(PAPSS2):c.881-236A>G	noncoding	Benign
10	87727250	C	G	C87727250G	PAPSS2	NM_001015880.2(PAPSS2):c.881-34C>G	noncoding	Benign
10	87727456	G	A	G87727456A	PAPSS2	NM_001015880.2(PAPSS2):c.1053G>A:p.Trp351Ter	coding	Pathogenic
10	87727650	T	C	T87727650C	PAPSS2	NM_001015880.2(PAPSS2):c.1086+161T>C	noncoding	Benign
10	87740998	G	T	G87740998T	PAPSS2	NM_001015880.2(PAPSS2):c.1087-237G>T	noncoding	Benign
10	87743467	C	A	C87743467A	PAPSS2	NM_001015880.2(PAPSS2):c.1317C>A:p.Tyr439Ter	coding	Pathogenic
10	87743551	C	T	C87743551T	PAPSS2	NM_001015880.2(PAPSS2):c.1401C>T:p.His467=	coding	Benign
10	87743626	T	A	T87743626A	PAPSS2	NM_001015880.2(PAPSS2):c.1476T>A:p.Tyr492Ter	coding	Pathogenic
10	87743741	T	G	T87743741G	PAPSS2	NM_001015880.2(PAPSS2):c.1491+100T>G	noncoding	Benign
10	87743960	G	C	G87743960C	PAPSS2	NM_001015880.2(PAPSS2):c.1491+319G>C	noncoding	Benign
10	87745176	C	T	C87745176T	PAPSS2	NM_001015880.2(PAPSS2):c.1666C>T:p.Arg556Ter	coding	Pathogenic
10	87745233	T	C	T87745233C	PAPSS2	NM_001015880.2(PAPSS2):c.1721+2T>C	noncoding	Pathogenic
10	87746116	A	T	A87746116T	PAPSS2	NM_001015880.2(PAPSS2):c.*146A>T	noncoding	Benign
10	87754702	A	G	A87754702G	ATAD1	NM_001321967.2(ATAD1):c.1071T>C:p.His357=	coding	Benign
10	87776354	G	C	G87776354C	ATAD1	NM_001321967.2(ATAD1):c.657C>G:p.Leu219=	coding	Benign
10	87776381	G	A	G87776381A	ATAD1	NM_001321967.2(ATAD1):c.630C>T:p.Ala210=	coding	Benign
10	87862043	A	T	A87862043T	PTEN	NM_001126049.2(KLLN):c.445T>A:p.Trp149Arg	coding	Benign
10	87862096	T	C	T87862096C	PTEN	NM_001126049.2(KLLN):c.392A>G:p.Asn131Ser	coding	Benign
10	87862106	G	C	G87862106C	KLLN;PTEN	NM_001126049.2(KLLN):c.382C>G:p.Arg128Gly	coding	Benign
10	87862408	C	G	C87862408G	KLLN	NM_001126049.2(KLLN):c.80G>C:p.Arg27Pro	coding	Benign
10	87863420	C	T	C87863420T	PTEN	NM_001126049.2(KLLN):c.-933G>A	noncoding	Benign
10	87863444	C	G	C87863444G	PTEN	NM_001126049.2(KLLN):c.-957G>C	noncoding	Benign
10	87863957	G	C	G87863957C	PTEN	NM_000314.8(PTEN):c.-513G>C	coding	Benign
10	87864334	G	C	G87864334C	PTEN	NM_000314.8(PTEN):c.-136G>C	coding	Pathogenic
10	87864471	T	C	T87864471C	PTEN	NM_000314.8(PTEN):c.2T>C:p.Met1Thr	coding	Pathogenic
10	87864472	G	A	G87864472A	PTEN	NM_000314.8(PTEN):c.3G>A:p.Met1Ile	coding	Pathogenic
10	87864485	A	G	A87864485G	PTEN	NM_000314.8(PTEN):c.16A>G:p.Lys6Glu	coding	Pathogenic
10	87864512	A	T	A87864512T	PTEN	NM_000314.8(PTEN):c.43A>T:p.Arg15Ter	coding	Pathogenic
10	87864544	G	C	G87864544C	PTEN	NM_000314.8(PTEN):c.75G>C:p.Leu25Phe	coding	Pathogenic
10	87894014	A	G	A87894014G	PTEN	NM_000314.8(PTEN):c.80-11A>G	noncoding	Benign/Likely_benign
10	87894058	C	G	C87894058G	PTEN	NM_000314.8(PTEN):c.113C>G:p.Pro38Arg	coding	Pathogenic
10	87925526	A	T	A87925526T	PTEN	NM_000314.8(PTEN):c.178A>T:p.Lys60Ter	coding	Pathogenic
10	87925532	A	T	A87925532T	PTEN	NM_000314.8(PTEN):c.184A>T:p.Lys62Ter	coding	Pathogenic
10	87925546	G	T	G87925546T	PTEN	NM_000314.8(PTEN):c.198G>T:p.Lys66Asn	coding	Pathogenic
10	87925633	A	C	A87925633C	PTEN	NM_000314.8(PTEN):c.209+76A>C	noncoding	Benign
10	87925641	G	A	G87925641A	PTEN	NM_000314.8(PTEN):c.209+84G>A	noncoding	Benign/Likely_benign
10	87931086	A	T	A87931086T	PTEN	NM_000314.8(PTEN):c.250A>T:p.Arg84Ter	coding	Pathogenic
10	87932976	T	C	T87932976C	PTEN	NM_000314.8(PTEN):c.254-37T>C	noncoding	Benign
10	87933028	T	C	T87933028C	PTEN	NM_000314.8(PTEN):c.269T>C:p.Phe90Ser	coding	Pathogenic/Likely_pathogenic
10	87933046	C	A	C87933046A	PTEN	NM_000314.8(PTEN):c.287C>A:p.Pro96Gln	coding	Pathogenic
10	87933047	A	G	A87933047G	PTEN	NM_000314.8(PTEN):c.288A>G:p.Pro96=	coding	Benign/Likely_benign
10	87933063	A	T	A87933063T	PTEN	NM_000314.8(PTEN):c.304A>T:p.Lys102Ter	coding	Pathogenic
10	87933078	G	T	G87933078T	PTEN	NM_000314.8(PTEN):c.319G>T:p.Asp107Tyr	coding	Pathogenic
10	87933127	A	G	A87933127G	PTEN	NM_000314.8(PTEN):c.368A>G:p.His123Arg	coding	Pathogenic
10	87933131	T	G	T87933131G	PTEN	NM_000314.8(PTEN):c.372T>G:p.Cys124Trp	coding	Pathogenic
10	87933138	G	T	G87933138T	PTEN	NM_000314.8(PTEN):c.379G>T:p.Gly127Ter	coding	Pathogenic
10	87933142	A	G	A87933142G	PTEN	NM_000314.8(PTEN):c.383A>G:p.Lys128Arg	coding	Pathogenic
10	87933170	A	G	A87933170G	PTEN	NM_000314.8(PTEN):c.411A>G:p.Ala137=	coding	Benign/Likely_benign
10	87933252	G	A	G87933252A	PTEN	NM_000314.8(PTEN):c.492+1G>A	coding	Pathogenic/Likely_pathogenic
10	87933252	G	C	G87933252C	PTEN	NM_000314.8(PTEN):c.492+1G>C	coding	Pathogenic
10	87952119	G	T	G87952119T	PTEN	NM_000314.8(PTEN):c.494G>T:p.Gly165Val	coding	Pathogenic
10	87952124	A	G	A87952124G	PTEN	NM_000314.8(PTEN):c.499A>G:p.Thr167Ala	coding	Pathogenic
10	87952167	T	C	T87952167C	PTEN	NM_000314.8(PTEN):c.542T>C:p.Leu181Pro	coding	Pathogenic
10	87952226	G	T	G87952226T	PTEN	NM_000314.8(PTEN):c.601G>T:p.Glu201Ter	coding	Pathogenic
10	87952395	G	A	G87952395A	PTEN	NM_000314.8(PTEN):c.634+136G>A	noncoding	Benign
10	87957837	G	A	G87957837A	PTEN	NM_000314.8(PTEN):c.635-16G>A	noncoding	Benign/Likely_benign
10	87957927	A	T	A87957927T	PTEN	NM_000314.8(PTEN):c.709A>T:p.Lys237Ter	coding	Pathogenic
10	87958037	A	T	A87958037T	PTEN	NM_000314.8(PTEN):c.801+18A>T	noncoding	Benign/Likely_benign
10	87960980	T	A	T87960980A	PTEN	NM_000314.8(PTEN):c.888T>A:p.Cys296Ter	coding	Pathogenic/Likely_pathogenic
10	87961004	C	A	C87961004A	PTEN	NM_000314.8(PTEN):c.912C>A:p.Cys304Ter	coding	Pathogenic
10	87961138	T	G	T87961138G	PTEN	NM_000314.8(PTEN):c.1026+20T>G	noncoding	Benign/Likely_benign
10	87961337	C	T	C87961337T	PTEN	NM_000314.8(PTEN):c.1026+219C>T	noncoding	Benign
10	87965290	A	T	A87965290T	PTEN	NM_000314.8(PTEN):c.1030A>T:p.Lys344Ter	coding	Pathogenic
10	87965294	T	C	T87965294C	PTEN	NM_000314.8(PTEN):c.1034T>C:p.Leu345Pro	coding	Pathogenic
10	87965457	A	G	A87965457G	PTEN	NM_000314.8(PTEN):c.1197A>G:p.Gln399=	coding	Benign/Likely_benign
10	88285726	A	T	A88285726T	RNLS	NM_001031709.3(RNLS):c.877-220T>A	noncoding	Benign
10	88285755	G	A	G88285755A	RNLS	NM_001031709.3(RNLS):c.877-249C>T	noncoding	Benign
10	88314229	G	A	G88314229A	RNLS	NM_001031709.3(RNLS):c.876+237C>T	noncoding	Benign
10	88314248	A	G	A88314248G	RNLS	NM_001031709.3(RNLS):c.876+218T>C	noncoding	Benign
10	88314383	G	A	G88314383A	RNLS	NM_001031709.3(RNLS):c.876+83C>T	noncoding	Benign
10	88314388	A	G	A88314388G	RNLS	NM_001031709.3(RNLS):c.876+78T>C	noncoding	Benign
10	88314644	G	A	G88314644A	RNLS	NM_001031709.3(RNLS):c.701-3C>T	noncoding	Benign
10	88314650	T	C	T88314650C	RNLS	NM_001031709.3(RNLS):c.701-9A>G	noncoding	Benign
10	88362755	C	T	C88362755T	RNLS	NM_001031709.3(RNLS):c.527-30G>A	noncoding	Benign
10	88362919	T	C	T88362919C	RNLS	NM_001031709.3(RNLS):c.527-194A>G	noncoding	Benign
10	88572854	A	G	A88572854G	RNLS	NM_001031709.3(RNLS):c.526+49T>C	noncoding	Benign
10	88573288	T	A	T88573288A	RNLS	NM_001031709.3(RNLS):c.368-227A>T	noncoding	Benign
10	88581292	G	A	G88581292A	RNLS	NM_001031709.3(RNLS):c.367+275C>T	noncoding	Benign
10	88581294	G	A	G88581294A	RNLS	NM_001031709.3(RNLS):c.367+273C>T	noncoding	Benign
10	88581602	A	G	A88581602G	RNLS	NM_001031709.3(RNLS):c.332T>C:p.Ile111Thr	coding	Benign/Likely_benign
10	88582087	T	C	T88582087C	RNLS	NM_001031709.3(RNLS):c.224+115A>G	noncoding	Benign
10	88582267	C	T	C88582267T	RNLS	NM_001031709.3(RNLS):c.159G>A:p.Gln53=	coding	Benign
10	88583080	C	G	C88583080G	RNLS	NM_001031709.3(RNLS):c.111G>C:p.Glu37Asp	coding	Benign
10	88583641	A	G	A88583641G	RNLS	NR_172141.1(LIPJ):n.735A>G	noncoding	Benign
10	88761090	T	G	T88761090G	LIPN	NM_001102469.2(LIPN):c.-8-308T>G	noncoding	Benign
10	88761763	G	C	G88761763C	LIPN	NM_001102469.2(LIPN):c.108+250G>C	noncoding	Benign
10	88761859	G	A	G88761859A	LIPN	NM_001102469.2(LIPN):c.109-329G>A	noncoding	Benign
10	88762425	T	C	T88762425C	LIPN	NM_001102469.2(LIPN):c.226+120T>C	noncoding	Benign
10	88764480	T	C	T88764480C	LIPN	NM_001102469.2(LIPN):c.297T>C:p.Ala99=	coding	Benign
10	88764578	C	T	C88764578T	LIPN	NM_001102469.2(LIPN):c.395C>T:p.Ser132Leu	coding	Benign
10	88764655	A	T	A88764655T	LIPN	NM_001102469.2(LIPN):c.425+47A>T	noncoding	Benign
10	88764699	G	A	G88764699A	LIPN	NM_001102469.2(LIPN):c.425+91G>A	noncoding	Benign
10	88764786	G	A	G88764786A	LIPN	NM_001102469.2(LIPN):c.425+178G>A	noncoding	Benign
10	88766035	C	T	C88766035T	LIPN	NM_001102469.2(LIPN):c.426-234C>T	noncoding	Benign
10	88766588	T	A	T88766588A	LIPN	NM_001102469.2(LIPN):c.535+210T>A	noncoding	Benign
10	88766622	C	T	C88766622T	LIPN	NM_001102469.2(LIPN):c.535+244C>T	noncoding	Benign
10	88768742	C	T	C88768742T	LIPN	NM_001102469.2(LIPN):c.536-50C>T	noncoding	Benign
10	88769235	G	T	G88769235T	LIPN	NM_001102469.2(LIPN):c.672+307G>T	noncoding	Benign
10	88770903	C	A	C88770903A	LIPN	NM_001102469.2(LIPN):c.731C>A:p.Thr244Asn	coding	Benign
10	88774328	A	T	A88774328T	LIPN	NM_001102469.2(LIPN):c.820-145A>T	noncoding	Benign
10	88774378	G	A	G88774378A	LIPN	NM_001102469.2(LIPN):c.820-95G>A	noncoding	Benign
10	88774453	A	C	A88774453C	LIPN	NM_001102469.2(LIPN):c.820-20A>C	noncoding	Benign
10	88774941	G	A	G88774941A	LIPN	NM_001102469.2(LIPN):c.892-151G>A	noncoding	Benign
10	88775002	G	A	G88775002A	LIPN	NM_001102469.2(LIPN):c.892-90G>A	noncoding	Benign
10	88775030	T	G	T88775030G	LIPN	NM_001102469.2(LIPN):c.892-62T>G	noncoding	Benign
10	88775057	C	T	C88775057T	LIPN	NM_001102469.2(LIPN):c.892-35C>T	noncoding	Benign
10	88775136	C	T	C88775136T	LIPN	NM_001102469.2(LIPN):c.936C>T:p.Asp312=	coding	Benign
10	88775211	A	G	A88775211G	LIPN	NM_001102469.2(LIPN):c.963+48A>G	noncoding	Benign
10	88775283	T	C	T88775283C	LIPN	NM_001102469.2(LIPN):c.963+120T>C	noncoding	Benign
10	88777975	C	T	C88777975T	LIPN	NM_001102469.2(LIPN):c.964-34C>T	noncoding	Benign
10	88778185	C	T	C88778185T	LIPN	NM_001102469.2(LIPN):c.1140C>T:p.Leu380=	coding	Benign
10	88778263	A	G	A88778263G	LIPN	NM_001102469.2(LIPN):c.*21A>G	noncoding	Benign
10	88935036	G	T	G88935036T	ACTA2	NR_125373.1(ACTA2-AS1):n.661G>T	noncoding	Benign
10	88935508	G	T	G88935508T	ACTA2	NM_001613.4(ACTA2):c.991-142C>A	coding	Benign
10	88937938	T	C	T88937938C	ACTA2	NM_001613.4(ACTA2):c.990+123A>G	noncoding	Benign
10	88939229	G	A	G88939229A	ACTA2	NM_001613.4(ACTA2):c.808+278C>T	noncoding	Benign
10	88939263	T	A	T88939263A	ACTA2	NM_001613.4(ACTA2):c.808+244A>T	noncoding	Benign
10	88939922	G	A	G88939922A	ACTA2	NM_001613.4(ACTA2):c.617-224C>T	coding	Benign
10	88943767	C	G	C88943767G	ACTA2	NM_001613.4(ACTA2):c.369+30G>C	noncoding	Benign
10	88948815	C	T	C88948815T	ACTA2	NM_001613.4(ACTA2):c.116G>A:p.Arg39His	coding	Pathogenic/Likely_pathogenic
10	88949414	C	T	C88949414T	ACTA2	NM_001613.4(ACTA2):c.-23-461G>A	noncoding	Benign
10	88949568	A	C	A88949568C	ACTA2	NM_001613.4(ACTA2):c.-23-615T>G	noncoding	Benign
10	88952721	C	T	C88952721T	ACTA2	NM_001613.4(ACTA2):c.-24+10G>A	noncoding	Benign
10	88952974	A	G	A88952974G	ACTA2	NM_001141945.2(ACTA2):c.-23-4021T>C	noncoding	Benign
10	88990925	G	A	G88990925A	FAS	NM_000043.6(FAS):c.30+19G>A	noncoding	Benign
10	88991152	C	T	C88991152T	ACTA2	NM_000043.6(FAS):c.30+246C>T	coding	Benign
10	88991225	T	G	T88991225G	ACTA2	NM_000043.6(FAS):c.30+319T>G	coding	Benign
10	89003370	C	T	C89003370T	FAS	NM_000043.6(FAS):c.196+176C>T	noncoding	Benign
10	89007590	C	T	C89007590T	FAS	NM_000043.6(FAS):c.197-110C>T	noncoding	Benign
10	89007638	G	C	G89007638C	FAS	NM_000043.6(FAS):c.197-62G>C	noncoding	Benign
10	89007762	G	T	G89007762T	FAS	NM_000043.6(FAS):c.259G>T:p.Glu87Ter	coding	Pathogenic
10	89007835	A	G	A89007835G	FAS	NM_000043.6(FAS):c.332A>G:p.His111Arg	coding	Pathogenic
10	89007883	C	T	C89007883T	FAS	NM_000043.6(FAS):c.334+46C>T	noncoding	Benign
10	89008996	A	T	A89008996T	FAS	NM_000043.6(FAS):c.442A>T:p.Lys148Ter	coding	Pathogenic
10	89009208	A	G	A89009208G	FAS	NM_000043.6(FAS):c.443+211A>G	noncoding	Benign
10	89009296	G	A	G89009296A	FAS	NM_000043.6(FAS):c.443+299G>A	noncoding	Benign
10	89010241	T	C	T89010241C	FAS	NM_000043.6(FAS):c.444-298T>C	noncoding	Benign
10	89010614	T	G	T89010614G	FAS	NM_000043.6(FAS):c.505+14T>G	noncoding	Benign
10	89010682	C	G	C89010682G	FAS	NM_000043.6(FAS):c.506-71C>G	noncoding	Benign
10	89010775	G	A	G89010775A	FAS	NM_000043.6(FAS):c.528G>A:p.Trp176Ter	coding	Pathogenic
10	89011095	C	T	C89011095T	FAS	NM_000043.6(FAS):c.568+280C>T	noncoding	Benign
10	89011855	G	A	G89011855A	FAS	NM_000043.6(FAS):c.569-144G>A	noncoding	Benign
10	89012074	T	A	T89012074A	FAS	NM_000043.6(FAS):c.644T>A:p.Leu215Ter	coding	Pathogenic
10	89013024	A	G	A89013024G	FAS	NM_000043.6(FAS):c.652-319A>G	noncoding	Benign
10	89013077	A	C	A89013077C	FAS	NM_000043.6(FAS):c.652-266A>C	noncoding	Benign
10	89013442	G	A	G89013442A	FAS	NM_000043.6(FAS):c.676+75G>A	noncoding	Benign
10	89013546	A	G	A89013546G	FAS	NM_000043.6(FAS):c.676+179A>G	noncoding	Benign
10	89013606	C	A	C89013606A	FAS	NM_000043.6(FAS):c.676+239C>A	noncoding	Benign
10	89014024	T	C	T89014024C	FAS	NM_000043.6(FAS):c.677-95T>C	noncoding	Benign
10	89014191	G	A	G89014191A	FAS	NM_000043.6(FAS):c.749G>A:p.Arg250Gln	coding	Pathogenic
10	89014191	G	C	G89014191C	FAS	NM_000043.6(FAS):c.749G>C:p.Arg250Pro	coding	Pathogenic
10	89214961	A	C	A89214961C	LIPA	NM_000235.4(LIPA):c.1067T>G:p.Leu356Ter	coding	Pathogenic
10	89214995	C	T	C89214995T	LIPA	NM_000235.4(LIPA):c.1033G>A:p.Asp345Asn	coding	Pathogenic/Likely_pathogenic
10	89215286	C	T	C89215286T	LIPA	NM_000235.4(LIPA):c.967-225G>A	noncoding	Benign
10	89215953	A	T	A89215953T	LIPA	NM_000235.4(LIPA):c.951T>A:p.Tyr317Ter	coding	Pathogenic
10	89215975	C	T	C89215975T	LIPA	NM_000235.4(LIPA):c.929G>A:p.Trp310Ter	coding	Pathogenic
10	89222252	T	C	T89222252C	LIPA	NM_000235.4(LIPA):c.894+259A>G	noncoding	Benign
10	89223531	T	C	T89223531C	LIPA	NM_000235.4(LIPA):c.822+153A>G	noncoding	Benign
10	89224866	A	G	A89224866G	LIPA	NM_000235.4(LIPA):c.675+226T>C	noncoding	Benign
10	89224974	C	T	C89224974T	LIPA	NM_000235.4(LIPA):c.675+118G>A	noncoding	Benign
10	89225115	G	A	G89225115A	LIPA	NM_000235.4(LIPA):c.652C>T:p.Arg218Ter	coding	Pathogenic
10	89225120	A	T	A89225120T	LIPA	NM_000235.4(LIPA):c.647T>A:p.Leu216Ter	coding	Pathogenic
10	89225245	C	T	C89225245T	LIPA	NM_000235.4(LIPA):c.539-17G>A	noncoding	Benign
10	89226978	A	G	A89226978G	LIPA	NM_000235.4(LIPA):c.455T>C:p.Leu152Pro	coding	Pathogenic/Likely_pathogenic
10	89227273	G	A	G89227273A	LIPA	NM_000235.4(LIPA):c.429-269C>T	noncoding	Benign
10	89228216	C	A	C89228216A	LIPA	NM_000235.4(LIPA):c.412G>T:p.Glu138Ter	coding	Pathogenic
10	89228242	T	C	T89228242C	LIPA	NM_000235.4(LIPA):c.386A>G:p.His129Arg	coding	Pathogenic/Likely_pathogenic
10	89228374	T	C	T89228374C	LIPA	NM_000235.4(LIPA):c.254A>G:p.Gln85Arg	coding	Pathogenic/Likely_pathogenic
10	89228402	A	G	A89228402G	LIPA	NM_000235.4(LIPA):c.230-4T>C	noncoding	Benign
10	89228653	A	T	A89228653T	LIPA	NM_000235.4(LIPA):c.230-255T>A	noncoding	Benign
10	89245956	G	C	G89245956C	LIPA	NM_000235.4(LIPA):c.112-163C>G	noncoding	Benign
10	89247604	C	T	C89247604T	LIPA	NM_000235.4(LIPA):c.45G>A:p.Trp15Ter	coding	Pathogenic/Likely_pathogenic
10	89251701	C	T	C89251701T	LIPA	NM_000235.4(LIPA):c.-2+36G>A	noncoding	Benign
10	89432902	A	T	A89432902T	SLC16A12	NM_213606.4(SLC16A12):c.*162T>A	noncoding	Benign
10	89433565	T	C	T89433565C	SLC16A12	NM_213606.4(SLC16A12):c.1289-239A>G	noncoding	Benign
10	89436131	G	C	G89436131C	SLC16A12	NM_213606.4(SLC16A12):c.1217C>G:p.Ser406Cys	coding	Benign
10	89436445	T	C	T89436445C	SLC16A12	NM_213606.4(SLC16A12):c.1029-126A>G	noncoding	Benign
10	89436645	T	G	T89436645G	SLC16A12	NM_213606.4(SLC16A12):c.1029-326A>C	noncoding	Benign
10	89439189	G	A	G89439189A	SLC16A12	NM_213606.4(SLC16A12):c.449-6C>T	noncoding	Benign
10	89440954	C	T	C89440954T	SLC16A12	NM_213606.4(SLC16A12):c.448+154G>A	noncoding	Benign
10	89441349	T	G	T89441349G	SLC16A12	NM_213606.4(SLC16A12):c.305-98A>C	noncoding	Benign
10	89441512	T	G	T89441512G	SLC16A12	NM_213606.4(SLC16A12):c.305-261A>C	noncoding	Benign
10	89443457	G	A	G89443457A	SLC16A12	NM_213606.4(SLC16A12):c.304+299C>T	noncoding	Benign
10	89444135	G	T	G89444135T	SLC16A12	NM_213606.4(SLC16A12):c.201-276C>A	noncoding	Benign
10	89737450	A	G	A89737450G	KIF20B	NM_001284259.2(KIF20B):c.2609A>G:p.Asn870Ser	coding	Benign
10	90915888	A	G	A90915888G	ANKRD1	NM_014391.3(ANKRD1):c.652-8T>C	noncoding	Benign/Likely_benign
10	90916100	G	A	G90916100A	ANKRD1	NM_014391.3(ANKRD1):c.651+71C>T	noncoding	Benign
10	90918990	A	G	A90918990G	ANKRD1	NM_014391.3(ANKRD1):c.346-18T>C	noncoding	Benign
10	90919008	A	G	A90919008G	ANKRD1	NM_014391.3(ANKRD1):c.346-36T>C	noncoding	Benign
10	91813227	C	T	C91813227T	TNKS2	NM_025235.4(TNKS2):c.424+20C>T	noncoding	Benign
10	91840723	G	A	G91840723A	TNKS2	NM_025235.4(TNKS2):c.1673+17G>A	noncoding	Benign
10	91924389	G	C	G91924389C	BTAF1	NM_003972.3(BTAF1):c.14+299G>C	noncoding	Benign
10	91935553	C	T	C91935553T	BTAF1	NM_003972.3(BTAF1):c.15-104C>T	noncoding	Benign
10	91939892	C	T	C91939892T	BTAF1	NM_003972.3(BTAF1):c.139-60C>T	noncoding	Benign
10	91942648	C	T	C91942648T	BTAF1	NM_003972.3(BTAF1):c.400+80C>T	noncoding	Benign
10	91942686	G	A	G91942686A	BTAF1	NM_003972.3(BTAF1):c.400+118G>A	noncoding	Benign
10	91951243	T	A	T91951243A	BTAF1	NM_003972.3(BTAF1):c.401-160T>A	noncoding	Benign
10	91953606	A	G	A91953606G	BTAF1	NM_003972.3(BTAF1):c.565-131A>G	noncoding	Benign
10	91953648	T	G	T91953648G	BTAF1	NM_003972.3(BTAF1):c.565-89T>G	noncoding	Benign
10	91954001	T	G	T91954001G	BTAF1	NM_003972.3(BTAF1):c.701+128T>G	noncoding	Benign
10	91954050	A	G	A91954050G	BTAF1	NM_003972.3(BTAF1):c.701+177A>G	noncoding	Benign
10	91957027	A	G	A91957027G	BTAF1	NM_003972.3(BTAF1):c.832-198A>G	noncoding	Benign
10	91957142	G	C	G91957142C	BTAF1	NM_003972.3(BTAF1):c.832-83G>C	noncoding	Benign
10	91957432	C	T	C91957432T	BTAF1	NM_003972.3(BTAF1):c.900+139C>T	noncoding	Benign
10	91959330	G	T	G91959330T	BTAF1	NM_003972.3(BTAF1):c.990+176G>T	noncoding	Benign
10	91959510	T	C	T91959510C	BTAF1	NM_003972.3(BTAF1):c.991-275T>C	noncoding	Benign
10	91959742	A	G	A91959742G	BTAF1	NM_003972.3(BTAF1):c.991-43A>G	noncoding	Benign
10	91959744	A	G	A91959744G	BTAF1	NM_003972.3(BTAF1):c.991-41A>G	noncoding	Benign
10	91959746	A	G	A91959746G	BTAF1	NM_003972.3(BTAF1):c.991-39A>G	noncoding	Benign
10	91959748	A	G	A91959748G	BTAF1	NM_003972.3(BTAF1):c.991-37A>G	noncoding	Benign
10	91959750	A	G	A91959750G	BTAF1	NM_003972.3(BTAF1):c.991-35A>G	noncoding	Benign
10	91959752	A	G	A91959752G	BTAF1	NM_003972.3(BTAF1):c.991-33A>G	noncoding	Benign
10	91959774	T	C	T91959774C	BTAF1	NM_003972.3(BTAF1):c.991-11T>C	noncoding	Benign
10	91960387	T	C	T91960387C	BTAF1	NM_003972.3(BTAF1):c.1263+233T>C	noncoding	Benign
10	91960441	C	T	C91960441T	BTAF1	NM_003972.3(BTAF1):c.1263+287C>T	noncoding	Benign
10	91962442	A	G	A91962442G	BTAF1	NM_003972.3(BTAF1):c.1264-96A>G	noncoding	Benign
10	91962994	G	T	G91962994T	BTAF1	NM_003972.3(BTAF1):c.1404+316G>T	noncoding	Benign
10	91964444	C	T	C91964444T	BTAF1	NM_003972.3(BTAF1):c.1529+243C>T	noncoding	Benign
10	91964509	G	A	G91964509A	BTAF1	NM_003972.3(BTAF1):c.1529+308G>A	noncoding	Benign
10	91966333	C	T	C91966333T	BTAF1	NM_003972.3(BTAF1):c.1530-304C>T	noncoding	Benign
10	91980672	T	C	T91980672C	BTAF1	NM_003972.3(BTAF1):c.1755+114T>C	noncoding	Benign
10	91989623	T	G	T91989623G	BTAF1	NM_003972.3(BTAF1):c.2854+43T>G	noncoding	Benign
10	91992465	G	A	G91992465A	BTAF1	NM_003972.3(BTAF1):c.3045+156G>A	noncoding	Benign
10	91992556	A	G	A91992556G	BTAF1	NM_003972.3(BTAF1):c.3045+247A>G	noncoding	Benign
10	91994340	G	A	G91994340A	BTAF1	NM_003972.3(BTAF1):c.3200-195G>A	noncoding	Benign
10	91994406	G	A	G91994406A	BTAF1	NM_003972.3(BTAF1):c.3200-129G>A	noncoding	Benign
10	91994786	T	G	T91994786G	BTAF1	NM_003972.3(BTAF1):c.3309+142T>G	noncoding	Benign
10	91996730	T	G	T91996730G	BTAF1	NM_003972.3(BTAF1):c.3511+160T>G	noncoding	Benign
10	92008040	G	A	G92008040A	BTAF1	NM_003972.3(BTAF1):c.3661-83G>A	noncoding	Benign
10	92008134	A	G	A92008134G	BTAF1	NM_003972.3(BTAF1):c.3672A>G:p.Pro1224=	coding	Benign
10	92008605	C	T	C92008605T	BTAF1	NM_003972.3(BTAF1):c.3814-224C>T	noncoding	Benign
10	92011011	T	C	T92011011C	BTAF1	NM_003972.3(BTAF1):c.4104-62T>C	noncoding	Benign
10	92011200	C	G	C92011200G	BTAF1	NM_003972.3(BTAF1):c.4181+50C>G	noncoding	Benign
10	92011435	T	A	T92011435A	BTAF1	NM_003972.3(BTAF1):c.4311+20T>A	noncoding	Benign
10	92014035	G	A	G92014035A	BTAF1	NM_003972.3(BTAF1):c.4584+6G>A	noncoding	Benign
10	92014060	G	T	G92014060T	BTAF1	NM_003972.3(BTAF1):c.4584+31G>T	noncoding	Benign
10	92014165	G	A	G92014165A	BTAF1	NM_003972.3(BTAF1):c.4584+136G>A	noncoding	Benign
10	92016011	A	G	A92016011G	BTAF1	NM_003972.3(BTAF1):c.4585-329A>G	noncoding	Benign
10	92016087	G	A	G92016087A	BTAF1	NM_003972.3(BTAF1):c.4585-253G>A	noncoding	Benign
10	92016196	G	A	G92016196A	BTAF1	NM_003972.3(BTAF1):c.4585-144G>A	noncoding	Benign
10	92016500	A	G	A92016500G	BTAF1	NM_003972.3(BTAF1):c.4710+35A>G	noncoding	Benign
10	92018512	A	C	A92018512C	BTAF1	NM_003972.3(BTAF1):c.4711-271A>C	noncoding	Benign
10	92018575	C	T	C92018575T	BTAF1	NM_003972.3(BTAF1):c.4711-208C>T	noncoding	Benign
10	92025113	C	A	C92025113A	BTAF1	NM_003972.3(BTAF1):c.5075+146C>A	noncoding	Benign
10	92026399	A	C	A92026399C	BTAF1	NM_003972.3(BTAF1):c.5076-193A>C	noncoding	Benign
10	92026800	A	C	A92026800C	BTAF1	NM_003972.3(BTAF1):c.5235+49A>C	noncoding	Benign
10	92028774	G	T	G92028774T	BTAF1	NM_003972.3(BTAF1):c.5407-16G>T	noncoding	Benign
10	92592748	A	T	A92592748T	KIF11	Single_allele	noncoding	Benign
10	92592861	C	T	C92592861T	KIF11	Single_allele	noncoding	Benign
10	92592979	A	G	A92592979G	KIF11	Single_allele	noncoding	Benign
10	92593066	C	G	C92593066G	KIF11	Single_allele	noncoding	Benign
10	92593161	A	G	A92593161G	KIF11	NM_004523.4(KIF11):c.-215A>G	noncoding	Benign
10	92593451	A	G	A92593451G	KIF11	NM_004523.4(KIF11):c.76A>G:p.Arg26Gly	coding	Pathogenic/Likely_pathogenic
10	92593457	G	C	G92593457C	KIF11	NM_004523.4(KIF11):c.77+5G>C	noncoding	Benign/Likely_benign
10	92593521	G	T	G92593521T	KIF11	NM_004523.4(KIF11):c.77+69G>T	noncoding	Benign
10	92593681	T	C	T92593681C	KIF11	NM_004523.4(KIF11):c.77+229T>C	noncoding	Benign
10	92606344	C	T	C92606344T	KIF11	NM_004523.4(KIF11):c.157C>T:p.Arg53Ter	coding	Pathogenic
10	92606729	G	A	G92606729A	KIF11	NM_004523.4(KIF11):c.308+13G>A	noncoding	Benign
10	92607276	A	G	A92607276G	KIF11	NM_004523.4(KIF11):c.387+39A>G	noncoding	Benign
10	92607473	A	G	A92607473G	KIF11	NM_004523.4(KIF11):c.387+236A>G	noncoding	Benign
10	92608831	T	C	T92608831C	KIF11	NM_004523.4(KIF11):c.388-189T>C	noncoding	Benign
10	92608896	T	C	T92608896C	KIF11	NM_004523.4(KIF11):c.388-124T>C	noncoding	Benign
10	92608899	G	T	G92608899T	KIF11	NM_004523.4(KIF11):c.388-121G>T	noncoding	Benign
10	92609490	C	T	C92609490T	KIF11	NM_004523.4(KIF11):c.679C>T:p.Leu227=	coding	Benign/Likely_benign
10	92609758	C	T	C92609758T	KIF11	NM_004523.4(KIF11):c.698+249C>T	noncoding	Benign
10	92609759	G	C	G92609759C	KIF11	NM_004523.4(KIF11):c.698+250G>C	noncoding	Benign
10	92609831	G	T	G92609831T	KIF11	NM_004523.4(KIF11):c.698+322G>T	noncoding	Benign
10	92612795	G	T	G92612795T	KIF11	NM_004523.4(KIF11):c.699-245G>T	noncoding	Benign
10	92612796	A	T	A92612796T	KIF11	NM_004523.4(KIF11):c.699-244A>T	noncoding	Benign
10	92612949	A	G	A92612949G	KIF11	NM_004523.4(KIF11):c.699-91A>G	noncoding	Benign
10	92613185	T	C	T92613185C	KIF11	NM_004523.4(KIF11):c.789+55T>C	noncoding	Benign
10	92613521	C	T	C92613521T	KIF11	NM_004523.4(KIF11):c.934C>T:p.Arg312Ter	coding	Pathogenic
10	92616571	C	A	C92616571A	KIF11	NM_004523.4(KIF11):c.1033-166C>A	noncoding	Benign
10	92616700	A	G	A92616700G	KIF11	NM_004523.4(KIF11):c.1033-37A>G	noncoding	Benign
10	92621128	A	G	A92621128G	KIF11	NM_004523.4(KIF11):c.1129-257A>G	noncoding	Benign
10	92621336	T	C	T92621336C	KIF11	NM_004523.4(KIF11):c.1129-49T>C	noncoding	Benign
10	92621376	C	T	C92621376T	KIF11	NM_004523.4(KIF11):c.1129-9C>T	noncoding	Benign
10	92628754	A	G	A92628754G	KIF11	NM_004523.4(KIF11):c.1218-54A>G	noncoding	Benign
10	92628790	T	C	T92628790C	KIF11	NM_004523.4(KIF11):c.1218-18T>C	noncoding	Benign
10	92628874	T	A	T92628874A	KIF11	NM_004523.4(KIF11):c.1284T>A:p.Ala428=	coding	Benign
10	92629988	G	A	G92629988A	KIF11	NM_004523.4(KIF11):c.1306-188G>A	noncoding	Benign
10	92630253	T	G	T92630253G	KIF11	NM_004523.4(KIF11):c.1383T>G:p.Leu461=	coding	Benign/Likely_benign
10	92630305	G	C	G92630305C	KIF11	NM_004523.4(KIF11):c.1435G>C:p.Glu479Gln	coding	Benign
10	92630485	A	C	A92630485C	KIF11	NM_004523.4(KIF11):c.1494+121A>C	noncoding	Benign
10	92632481	T	C	T92632481C	KIF11	NM_004523.4(KIF11):c.1495-5T>C	noncoding	Benign
10	92632971	C	T	C92632971T	KIF11	NM_004523.4(KIF11):c.1702+278C>T	noncoding	Benign
10	92633873	T	G	T92633873G	KIF11	NM_004523.4(KIF11):c.1875+78T>G	noncoding	Benign
10	92634024	G	A	G92634024A	KIF11	NM_004523.4(KIF11):c.1875+229G>A	noncoding	Benign
10	92634028	T	C	T92634028C	KIF11	NM_004523.4(KIF11):c.1875+233T>C	noncoding	Benign
10	92637260	A	G	A92637260G	KIF11	NM_004523.4(KIF11):c.1952A>G:p.Asn651Ser	coding	Benign
10	92637304	G	A	G92637304A	KIF11	NM_004523.4(KIF11):c.1996G>A:p.Asp666Asn	coding	Benign/Likely_benign
10	92637323	T	C	T92637323C	KIF11	NM_004523.4(KIF11):c.2001+14T>C	noncoding	Benign
10	92639793	G	A	G92639793A	KIF11	NM_004523.4(KIF11):c.2161-1G>A	noncoding	Pathogenic
10	92645067	C	T	C92645067T	KIF11	NM_004523.4(KIF11):c.2268-296C>T	noncoding	Benign
10	92647910	A	G	A92647910G	KIF11	NM_004523.4(KIF11):c.2548-302A>G	noncoding	Benign
10	92648651	T	C	T92648651C	KIF11	NM_004523.4(KIF11):c.2770+217T>C	noncoding	Benign
10	92649834	G	C	G92649834C	KIF11	NM_004523.4(KIF11):c.2771-1G>C	noncoding	Pathogenic
10	92649839	G	A	G92649839A	KIF11	NM_004523.4(KIF11):c.2775G>A:p.Thr925=	coding	Benign/Likely_benign
10	92649978	A	G	A92649978G	KIF11	NM_004523.4(KIF11):c.2914A>G:p.Thr972Ala	coding	Benign/Likely_benign
10	92649985	C	T	C92649985T	KIF11	NM_004523.4(KIF11):c.2921C>T:p.Pro974Leu	coding	Benign
10	92649986	G	T	G92649986T	KIF11	NM_004523.4(KIF11):c.2922G>T:p.Pro974=	coding	Pathogenic
10	92649992	T	C	T92649992C	KIF11	NM_004523.4(KIF11):c.2922+6T>C	noncoding	Benign
10	92650043	C	T	C92650043T	KIF11	NM_004523.4(KIF11):c.2922+57C>T	noncoding	Benign
10	92650494	A	G	A92650494G	KIF11	NM_004523.4(KIF11):c.3016A>G:p.Ile1006Val	coding	Benign
10	92653623	G	A	G92653623A	KIF11	NM_004523.4(KIF11):c.3040-42G>A	noncoding	Benign
10	92653650	G	T	G92653650T	KIF11	NM_004523.4(KIF11):c.3040-15G>T	noncoding	Benign
10	93313149	T	C	T93313149C	MYOF	NM_013451.4(MYOF):c.5760A>G:p.Arg1920=	coding	Benign
10	93325837	T	C	T93325837C	MYOF	NM_013451.4(MYOF):c.5260A>G:p.Asn1754Asp	coding	Benign
10	93408865	C	A	C93408865A	MYOF	NM_013451.4(MYOF):c.651G>T:p.Arg217Ser	coding	Pathogenic
10	93500222	C	G	C93500222G	CEP55	NM_018131.5(CEP55):c.171C>G:p.His57Gln	coding	Benign
10	93503133	T	A	T93503133A	CEP55	NM_018131.5(CEP55):c.204T>A:p.Ala68=	coding	Benign
10	93503224	A	G	A93503224G	CEP55	NM_018131.5(CEP55):c.295A>G:p.Thr99Ala	coding	Benign
10	93503236	C	T	C93503236T	CEP55	NM_018131.5(CEP55):c.307C>T:p.Gln103Ter	coding	Pathogenic
10	93516916	G	A	G93516916A	CEP55	NM_018131.5(CEP55):c.680-19G>A	noncoding	Benign
10	93516935	G	A	G93516935A	CEP55	NM_018131.5(CEP55):c.680G>A:p.Gly227Asp	coding	Benign
10	93516961	T	C	T93516961C	CEP55	NM_018131.5(CEP55):c.706T>C:p.Cys236Arg	coding	Benign
10	93516985	G	C	G93516985C	CEP55	NM_018131.5(CEP55):c.730G>C:p.Ala244Pro	coding	Benign
10	93518926	G	A	G93518926A	CEP55	NM_018131.5(CEP55):c.1043G>A:p.Arg348Lys	coding	Benign
10	93518959	G	A	G93518959A	CEP55	NM_018131.5(CEP55):c.1065+11G>A	noncoding	Benign
10	93519749	A	T	A93519749T	CEP55	NM_018131.5(CEP55):c.1133A>T:p.His378Leu	coding	Benign
10	93519896	A	G	A93519896G	CEP55	NM_018131.5(CEP55):c.1191+89A>G	noncoding	Benign
10	93592193	A	G	A93592193G	RBP4	NM_006744.4(RBP4):c.569-81T>C	noncoding	Benign
10	93593731	C	T	C93593731T	RBP4	NM_006744.4(RBP4):c.568+92G>A	noncoding	Benign
10	93593756	G	A	G93593756A	RBP4	NM_006744.4(RBP4):c.568+67C>T	noncoding	Benign
10	93594010	T	C	T93594010C	RBP4	NM_006744.4(RBP4):c.381A>G:p.Thr127=	coding	Benign
10	93594060	C	G	C93594060G	RBP4	NM_006744.4(RBP4):c.356-25G>C	noncoding	Benign
10	93600181	C	T	C93600181T	RBP4	NM_006744.4(RBP4):c.355+212G>A	noncoding	Benign
10	93600211	G	C	G93600211C	RBP4	NM_006744.4(RBP4):c.355+182C>G	noncoding	Benign
10	93600302	C	T	C93600302T	RBP4	NM_006744.4(RBP4):c.355+91G>A	noncoding	Benign
10	93600352	C	G	C93600352G	RBP4	NM_006744.4(RBP4):c.355+41G>C	noncoding	Benign
10	93600623	A	G	A93600623G	RBP4	NM_006744.4(RBP4):c.248+44T>C	noncoding	Benign
10	93600639	G	C	G93600639C	RBP4	NM_006744.4(RBP4):c.248+28C>G	noncoding	Benign
10	93600654	G	A	G93600654A	RBP4	NM_006744.4(RBP4):c.248+13C>T	noncoding	Benign
10	93600847	C	G	C93600847G	RBP4	NM_006744.4(RBP4):c.112-44G>C	noncoding	Benign
10	93600893	C	T	C93600893T	RBP4	NM_006744.4(RBP4):c.111+25G>A	noncoding	Benign
10	93600962	G	A	G93600962A	RBP4	NM_006744.4(RBP4):c.67C>T:p.Arg23Ter	coding	Pathogenic
10	93601207	A	C	A93601207C	RBP4	NM_006744.4(RBP4):c.-55T>G	noncoding	Benign
10	93613030	G	A	G93613030A	PDE6C	NM_006204.4(PDE6C):c.305G>A:p.Arg102Gln	coding	Pathogenic
10	93613040	C	T	C93613040T	PDE6C	NM_006204.4(PDE6C):c.315C>T:p.Asn105=	coding	Benign
10	93613205	G	T	G93613205T	PDE6C	NM_006204.4(PDE6C):c.480G>T:p.Lys160Asn	coding	Pathogenic
10	93620969	C	T	C93620969T	PDE6C	NM_006204.4(PDE6C):c.712C>T:p.Arg238Ter	coding	Pathogenic
10	93621033	G	A	G93621033A	PDE6C	NM_006204.4(PDE6C):c.723+53G>A	noncoding	Benign
10	93621917	G	T	G93621917T	PDE6C	NM_006204.4(PDE6C):c.724-15G>T	noncoding	Benign/Likely_benign
10	93625651	T	G	T93625651G	PDE6C	NM_006204.4(PDE6C):c.939+2T>G	noncoding	Pathogenic
10	93625654	G	A	G93625654A	PDE6C	NM_006204.4(PDE6C):c.939+5G>A	noncoding	Pathogenic
10	93629367	G	A	G93629367A	PDE6C	NM_006204.4(PDE6C):c.1119+62G>A	noncoding	Benign
10	93634698	T	C	T93634698C	PDE6C	NM_006204.4(PDE6C):c.1120-60T>C	noncoding	Benign
10	93634924	G	A	G93634924A	PDE6C	NM_006204.4(PDE6C):c.1269+17G>A	noncoding	Benign
10	93640489	C	T	C93640489T	PDE6C	NM_006204.4(PDE6C):c.1669C>T:p.Arg557Ter	coding	Pathogenic
10	93659181	A	C	A93659181C	PDE6C	NM_006204.4(PDE6C):c.2208+14A>C	noncoding	Benign/Likely_benign
10	93661926	G	C	G93661926C	PDE6C	NM_006204.4(PDE6C):c.2209-133G>C	noncoding	Benign
10	93662134	G	T	G93662134T	PDE6C	NM_006204.4(PDE6C):c.2283+1G>T	coding	Pathogenic
10	93663095	G	A	G93663095A	PDE6C	NM_006204.4(PDE6C):c.2435G>A:p.Trp812Ter	coding	Pathogenic
10	93687434	G	A	G93687434A	FRA10AC1	NM_145246.5(FRA10AC1):c.481C>T:p.Arg161Ter	coding	Pathogenic
10	93692698	G	A	G93692698A	FRA10AC1	NM_145246.5(FRA10AC1):c.328C>T:p.Arg110Ter	coding	Pathogenic
10	93777618	G	A	G93777618A	LGI1	NM_005097.4(LGI1):c.431+1G>A	coding	Pathogenic
10	93790161	T	A	T93790161A	LGI1	NM_005097.4(LGI1):c.494T>A:p.Leu165Ter	coding	Pathogenic
10	93790213	A	T	A93790213T	LGI1	NM_005097.4(LGI1):c.503+43A>T	coding	Benign
10	93790214	G	C	G93790214C	LGI1	NM_005097.4(LGI1):c.503+44G>C	coding	Benign
10	93790269	T	G	T93790269G	LGI1	NM_005097.4(LGI1):c.503+99T>G	noncoding	Benign
10	93792718	A	G	A93792718G	LGI1	NM_005097.4(LGI1):c.504-25A>G	noncoding	Benign
10	93792896	T	C	T93792896C	LGI1	NM_005097.4(LGI1):c.657T>C:p.Phe219=	coding	Benign
10	93793168	T	C	T93793168C	LGI1	NM_005097.4(LGI1):c.674-18T>C	noncoding	Benign
10	93793307	G	A	G93793307A	LGI1	NM_005097.4(LGI1):c.795G>A:p.Trp265Ter	coding	Pathogenic
10	93797117	C	T	C93797117T	LGI1	NM_005097.4(LGI1):c.988C>T:p.Arg330Ter	coding	Pathogenic
10	93797191	T	G	T93797191G	LGI1	NM_005097.4(LGI1):c.1062T>G:p.Ala354=	coding	Benign/Likely_benign
10	93797247	T	A	T93797247A	LGI1	NM_005097.4(LGI1):c.1118T>A:p.Leu373Ter	coding	Pathogenic
10	93797381	C	T	C93797381T	LGI1	NM_005097.4(LGI1):c.1252C>T:p.Gln418Ter	coding	Pathogenic
10	93797600	A	G	A93797600G	LGI1	NM_005097.4(LGI1):c.1471A>G:p.Ile491Val	coding	Benign/Likely_benign
10	94031667	C	T	C94031667T	PLCE1	NM_016341.4(PLCE1):c.621C>T:p.Asn207=	coding	Benign
10	94032194	C	A	C94032194A	PLCE1	NM_016341.4(PLCE1):c.1148C>A:p.Ser383Ter	coding	Pathogenic
10	94131852	C	G	C94131852G	PLCE1	NM_016341.4(PLCE1):c.1207-322C>G	noncoding	Benign
10	94132306	C	T	C94132306T	PLCE1	NM_016341.4(PLCE1):c.1339C>T:p.Arg447Ter	coding	Pathogenic
10	94227556	C	T	C94227556T	PLCE1	NM_016341.4(PLCE1):c.1955+105C>T	noncoding	Benign
10	94233959	T	C	T94233959C	PLCE1	NM_016341.4(PLCE1):c.1956-95T>C	noncoding	Benign
10	94235822	A	C	A94235822C	PLCE1	NM_016341.4(PLCE1):c.2215-93A>C	noncoding	Benign
10	94252078	G	A	G94252078A	PLCE1	NM_016341.4(PLCE1):c.3097-238G>A	noncoding	Benign
10	94252108	T	G	T94252108G	PLCE1	NM_016341.4(PLCE1):c.3097-208T>G	noncoding	Benign
10	94252725	C	T	C94252725T	PLCE1	NM_016341.4(PLCE1):c.3279+227C>T	noncoding	Benign
10	94253948	G	A	G94253948A	PLCE1	NM_016341.4(PLCE1):c.3280-242G>A	noncoding	Benign
10	94254067	C	T	C94254067T	PLCE1	NM_016341.4(PLCE1):c.3280-123C>T	noncoding	Benign
10	94254170	C	T	C94254170T	PLCE1	NM_016341.4(PLCE1):c.3280-20C>T	noncoding	Benign
10	94254414	C	T	C94254414T	PLCE1	NM_016341.4(PLCE1):c.3397+107C>T	noncoding	Benign
10	94254865	C	G	C94254865G	PLCE1	NM_016341.4(PLCE1):c.3398-28C>G	noncoding	Benign
10	94258753	A	T	A94258753T	PLCE1	NM_016341.4(PLCE1):c.3555-47A>T	noncoding	Benign
10	94262863	T	G	T94262863G	PLCE1	NM_016341.4(PLCE1):c.4053+131T>G	noncoding	Benign
10	94265734	A	C	A94265734C	PLCE1	NM_016341.4(PLCE1):c.4115+26A>C	noncoding	Benign
10	94270573	C	T	C94270573T	PLCE1	NM_016341.4(PLCE1):c.4477C>T:p.Gln1493Ter	coding	Pathogenic
10	94270579	C	T	C94270579T	PLCE1	NM_016341.4(PLCE1):c.4483C>T:p.Arg1495Ter	coding	Pathogenic/Likely_pathogenic
10	94270701	G	T	G94270701T	PLCE1	NM_016341.4(PLCE1):c.4506+99G>T	noncoding	Benign
10	94274009	A	C	A94274009C	PLCE1	NM_016341.4(PLCE1):c.4665+289A>C	noncoding	Benign
10	94279951	C	T	C94279951T	PLCE1	NM_016341.4(PLCE1):c.4795+40C>T	coding	Benign
10	94283975	A	G	A94283975G	PLCE1	NM_016341.4(PLCE1):c.4917+64A>G	noncoding	Benign
10	94285156	G	A	G94285156A	PLCE1	NM_016341.4(PLCE1):c.5035+191G>A	noncoding	Benign
10	94285241	A	G	A94285241G	PLCE1	NM_016341.4(PLCE1):c.5035+276A>G	noncoding	Benign
10	94285297	C	T	C94285297T	PLCE1	NM_016341.4(PLCE1):c.5035+332C>T	noncoding	Benign
10	94293482	T	A	T94293482A	PLCE1	NM_016341.4(PLCE1):c.5036-26T>A	noncoding	Benign
10	94298378	G	A	G94298378A	PLCE1	NM_016341.4(PLCE1):c.5168-1G>A	noncoding	Pathogenic
10	94298917	A	G	A94298917G	PLCE1	NM_016341.4(PLCE1):c.5458+248A>G	noncoding	Benign
10	94298973	C	T	C94298973T	PLCE1	NM_016341.4(PLCE1):c.5458+304C>T	noncoding	Benign
10	94304411	C	A	C94304411A	PLCE1	NM_016341.4(PLCE1):c.5459-71C>A	noncoding	Benign
10	94308511	C	T	C94308511T	PLCE1	NM_016341.4(PLCE1):c.5885-70C>T	noncoding	Benign
10	94308675	T	C	T94308675C	PLCE1	NM_016341.4(PLCE1):c.5979T>C:p.Ser1993=	coding	Benign/Likely_benign
10	94308723	A	G	A94308723G	PLCE1	NM_016341.4(PLCE1):c.6003+24A>G	noncoding	Benign
10	94313568	C	T	C94313568T	PLCE1	NM_016341.4(PLCE1):c.6132+186C>T	noncoding	Benign
10	94321700	T	G	T94321700G	PLCE1	NM_016341.4(PLCE1):c.6343-201T>G	noncoding	Benign
10	94322077	C	T	C94322077T	PLCE1	NM_016341.4(PLCE1):c.6501+18C>T	noncoding	Benign
10	94324163	G	A	G94324163A	PLCE1	NM_016341.4(PLCE1):c.6502-186G>A	noncoding	Benign
10	94324365	A	G	A94324365G	PLCE1	NM_016341.4(PLCE1):c.6518A>G:p.Lys2173Arg	coding	Benign/Likely_benign
10	94324598	T	A	T94324598A	PLCE1	NM_016341.4(PLCE1):c.6720+31T>A	noncoding	Benign
10	94324828	G	A	G94324828A	PLCE1	NM_016341.4(PLCE1):c.6721-64G>A	noncoding	Benign
10	94325033	C	A	C94325033A	PLCE1	NM_016341.4(PLCE1):c.6862C>A:p.Pro2288Thr	coding	Benign
10	94545972	T	C	T94545972C	HELLS	NM_018063.5(HELLS):c.31+20T>C	noncoding	Benign
10	94546436	C	T	C94546436T	HELLS	NM_018063.5(HELLS):c.91C>T:p.Leu31=	coding	Benign
10	94554203	A	C	A94554203C	HELLS	NM_018063.5(HELLS):c.231A>C:p.Ile77=	coding	Benign
10	94562672	C	T	C94562672T	HELLS	NM_018063.5(HELLS):c.334-19C>T	noncoding	Benign
10	94588404	G	A	G94588404A	HELLS	NM_018063.5(HELLS):c.1488+14G>A	noncoding	Benign
10	94850018	A	C	A94850018C	CYP2C19	NM_000769.4(CYP2C19):c.1251A>C:p.Gly417=	coding	Benign
10	94942234	G	A	G94942234A	CYP2C9	NM_000771.4(CYP2C9):c.374G>A:p.Arg125His	coding	Benign
10	95606856	C	T	C95606856T	ALDH18A1	NM_002860.4(ALDH18A1):c.2294G>A:p.Arg765Gln	coding	Pathogenic/Likely_pathogenic
10	95607060	T	G	T95607060G	ALDH18A1	NM_002860.4(ALDH18A1):c.2207-117A>C	noncoding	Benign
10	95607077	A	G	A95607077G	ALDH18A1	NM_002860.4(ALDH18A1):c.2207-134T>C	noncoding	Benign
10	95610440	A	G	A95610440G	ALDH18A1	NM_002860.4(ALDH18A1):c.2111-148T>C	noncoding	Benign
10	95610486	G	A	G95610486A	ALDH18A1	NM_002860.4(ALDH18A1):c.2111-194C>T	noncoding	Benign
10	95611086	T	C	T95611086C	ALDH18A1	NM_002860.4(ALDH18A1):c.2110+170A>G	noncoding	Benign
10	95611185	G	C	G95611185C	ALDH18A1	NM_002860.4(ALDH18A1):c.2110+71C>G	noncoding	Benign
10	95611560	A	G	A95611560G	ALDH18A1	NM_002860.4(ALDH18A1):c.1924-118T>C	noncoding	Benign
10	95611570	C	G	C95611570G	ALDH18A1	NM_002860.4(ALDH18A1):c.1924-128G>C	noncoding	Benign
10	95616339	A	T	A95616339T	ALDH18A1	NM_002860.4(ALDH18A1):c.1605+138T>A	noncoding	Benign
10	95616358	G	A	G95616358A	ALDH18A1	NM_002860.4(ALDH18A1):c.1605+119C>T	noncoding	Benign
10	95625257	T	C	T95625257C	ALDH18A1	NM_002860.4(ALDH18A1):c.1246+105A>G	noncoding	Benign
10	95628493	C	G	C95628493G	ALDH18A1	NM_002860.4(ALDH18A1):c.809-1G>C	coding	Pathogenic
10	95632892	C	T	C95632892T	ALDH18A1	NM_002860.4(ALDH18A1):c.808+67G>A	noncoding	Benign
10	95633012	C	T	C95633012T	ALDH18A1	NM_002860.4(ALDH18A1):c.755G>A:p.Arg252Gln	coding	Pathogenic/Likely_pathogenic
10	95633212	G	A	G95633212A	ALDH18A1	NM_002860.4(ALDH18A1):c.718-163C>T	noncoding	Benign
10	95633236	T	C	T95633236C	ALDH18A1	NM_002860.4(ALDH18A1):c.718-187A>G	noncoding	Benign
10	95633718	C	T	C95633718T	ALDH18A1	NM_002860.4(ALDH18A1):c.559-69G>A	noncoding	Benign
10	95637173	C	A	C95637173A	ALDH18A1	NM_002860.4(ALDH18A1):c.478G>T:p.Ala160Ser	coding	Pathogenic
10	95637339	G	A	G95637339A	ALDH18A1	NM_002860.4(ALDH18A1):c.401C>T:p.Ser134Phe	coding	Pathogenic
10	95637587	T	C	T95637587C	ALDH18A1	NM_002860.4(ALDH18A1):c.304-151A>G	noncoding	Benign
10	95653618	A	T	A95653618T	ALDH18A1	NM_002860.4(ALDH18A1):c.-28-213T>A	noncoding	Benign
10	95656350	G	C	G95656350C	ALDH18A1	NM_002860.4(ALDH18A1):c.-29+247C>G	noncoding	Benign
10	95656470	G	A	G95656470A	ALDH18A1	NM_002860.4(ALDH18A1):c.-29+127C>T	noncoding	Benign
10	95663951	C	A	C95663951A	TCTN3	NM_015631.6(TCTN3):c.*116G>T	noncoding	Benign
10	95664022	A	G	A95664022G	TCTN3	NM_015631.6(TCTN3):c.*45T>C	noncoding	Benign
10	95680402	G	A	G95680402A	TCTN3	NM_015631.6(TCTN3):c.1590+70C>T	noncoding	Benign
10	95683121	T	C	T95683121C	TCTN3	NM_015631.6(TCTN3):c.1278A>G:p.Ala426=	coding	Benign
10	95683177	G	A	G95683177A	TCTN3	NM_015631.6(TCTN3):c.1222C>T:p.Gln408Ter	coding	Pathogenic
10	95685592	C	A	C95685592A	TCTN3	NM_015631.6(TCTN3):c.933G>T:p.Leu311=	coding	Benign
10	95693409	G	A	G95693409A	TCTN3	NM_015631.6(TCTN3):c.324C>T:p.Asp108=	coding	Benign
10	95693898	A	C	A95693898C	TCTN3	NM_015631.6(TCTN3):c.2T>G:p.Met1Arg	coding	Pathogenic
10	95694088	G	T	G95694088T	TCTN3	Single_allele	noncoding	Benign
10	95694421	T	A	T95694421A	TCTN3	Single_allele	noncoding	Benign
10	95694422	A	T	A95694422T	TCTN3	Single_allele	noncoding	Benign
10	95694423	A	T	A95694423T	TCTN3	Single_allele	noncoding	Benign
10	95755380	G	A	G95755380A	ENTPD1	NM_001098175.2(ENTPD1):c.37+43387G>A	coding	Benign
10	95755831	T	C	T95755831C	ENTPD1	NM_001776.4(ENTPD1):c.-409T>C	coding	Benign
10	95839780	G	C	G95839780C	ENTPD1	NM_001776.6(ENTPD1):c.234G>C:p.Val78=	coding	Benign
10	95842137	A	G	A95842137G	ENTPD1	NM_001776.6(ENTPD1):c.263-207A>G	noncoding	Benign
10	95842217	A	G	A95842217G	ENTPD1	NM_001776.6(ENTPD1):c.263-127A>G	noncoding	Benign
10	95842334	T	C	T95842334C	ENTPD1	NM_001776.6(ENTPD1):c.263-10T>C	noncoding	Benign
10	95844649	A	G	A95844649G	ENTPD1	NM_001776.6(ENTPD1):c.573+14A>G	noncoding	Benign
10	95844746	T	C	T95844746C	ENTPD1	NM_001776.6(ENTPD1):c.573+111T>C	noncoding	Benign
10	95844894	A	T	A95844894T	ENTPD1	NM_001776.6(ENTPD1):c.573+259A>T	noncoding	Benign
10	95845184	T	C	T95845184C	ENTPD1	NM_001776.6(ENTPD1):c.574-173T>C	noncoding	Benign
10	95845300	C	G	C95845300G	ENTPD1	NM_001776.6(ENTPD1):c.574-57C>G	noncoding	Benign
10	95847318	C	T	C95847318T	ENTPD1	NM_001776.6(ENTPD1):c.814-128C>T	noncoding	Benign
10	95847408	G	A	G95847408A	ENTPD1	NM_001776.6(ENTPD1):c.814-38G>A	coding	Benign
10	95847887	G	T	G95847887T	ENTPD1	NM_001776.6(ENTPD1):c.1074+181G>T	noncoding	Benign
10	95864450	A	G	A95864450G	ENTPD1	NM_001776.6(ENTPD1):c.1189-274A>G	noncoding	Benign
10	95864619	G	T	G95864619T	ENTPD1	NM_001776.6(ENTPD1):c.1189-105G>T	noncoding	Benign
10	95864952	A	C	A95864952C	ENTPD1	NM_001776.6(ENTPD1):c.1326+91A>C	noncoding	Benign
10	95865083	T	C	T95865083C	ENTPD1	NM_001776.6(ENTPD1):c.1326+222T>C	noncoding	Benign
10	95866287	C	T	C95866287T	ENTPD1	NM_001776.6(ENTPD1):c.1437C>T:p.Phe479=	coding	Benign
10	96196964	G	A	G96196964A	BLNK	NM_013314.4(BLNK):c.1195C>T:p.Arg399Ter	coding	Pathogenic
10	96197074	T	A	T96197074A	BLNK	NM_013314.4(BLNK):c.1096-11A>T	noncoding	Benign
10	96197079	T	A	T96197079A	BLNK	NM_013314.4(BLNK):c.1096-16A>T	noncoding	Benign
10	96197146	C	G	C96197146G	BLNK	NM_013314.4(BLNK):c.1096-83G>C	noncoding	Benign
10	96200313	A	G	A96200313G	BLNK	NM_013314.4(BLNK):c.1012-155T>C	noncoding	Benign
10	96201199	G	T	G96201199T	BLNK	NM_013314.4(BLNK):c.935-141C>A	noncoding	Benign
10	96201237	G	A	G96201237A	BLNK	NM_013314.4(BLNK):c.935-179C>T	noncoding	Benign
10	96201293	C	T	C96201293T	BLNK	NM_013314.4(BLNK):c.935-235G>A	noncoding	Benign
10	96204398	C	T	C96204398T	BLNK	NM_013314.4(BLNK):c.902+134G>A	noncoding	Benign
10	96204401	A	G	A96204401G	BLNK	NM_013314.4(BLNK):c.902+131T>C	noncoding	Benign
10	96204505	C	G	C96204505G	BLNK	NM_013314.4(BLNK):c.902+27G>C	noncoding	Benign
10	96209938	A	G	A96209938G	BLNK	NM_013314.4(BLNK):c.677-31T>C	noncoding	Benign
10	96215111	A	G	A96215111G	BLNK	NM_013314.4(BLNK):c.676+210T>C	noncoding	Benign
10	96215516	T	C	T96215516C	BLNK	NM_013314.4(BLNK):c.608-127A>G	noncoding	Benign
10	96223524	G	A	G96223524A	BLNK	NM_013314.4(BLNK):c.525+302C>T	noncoding	Benign
10	96223770	C	T	C96223770T	BLNK	NM_013314.4(BLNK):c.525+56G>A	noncoding	Benign
10	96224136	G	A	G96224136A	BLNK	NM_013314.4(BLNK):c.362-147C>T	noncoding	Benign
10	96224162	G	C	G96224162C	BLNK	NM_013314.4(BLNK):c.362-173C>G	noncoding	Benign
10	96224195	C	T	C96224195T	BLNK	NM_013314.4(BLNK):c.362-206G>A	noncoding	Benign
10	96227339	C	T	C96227339T	BLNK	NM_013314.4(BLNK):c.361+71G>A	noncoding	Benign
10	96227388	C	G	C96227388G	BLNK	NM_013314.4(BLNK):c.361+22G>C	noncoding	Benign
10	96227622	G	A	G96227622A	BLNK	NM_013314.4(BLNK):c.205-56C>T	noncoding	Benign
10	96227779	C	A	C96227779A	BLNK	NM_013314.4(BLNK):c.205-213G>T	noncoding	Benign
10	96243047	G	A	G96243047A	BLNK	NM_013314.4(BLNK):c.114-263C>T	noncoding	Benign
10	96247101	A	T	A96247101T	BLNK	NM_013314.4(BLNK):c.48-52T>A	noncoding	Benign
10	96271349	T	A	T96271349A	BLNK	NM_013314.4(BLNK):c.47+3A>T	noncoding	Pathogenic
10	96271909	T	A	T96271909A	BLNK	Single_allele	noncoding	Benign
10	96602297	C	T	C96602297T	PIK3AP1	NM_152309.3(PIK3AP1):c.2343G>A:p.Pro781=	coding	Benign
10	96609779	A	G	A96609779G	PIK3AP1	NM_152309.3(PIK3AP1):c.2103T>C:p.Ser701=	coding	Benign
10	96620380	T	C	T96620380C	PIK3AP1	NM_152309.3(PIK3AP1):c.1913A>G:p.Lys638Arg	coding	Benign
10	96620430	G	A	G96620430A	PIK3AP1	NM_152309.3(PIK3AP1):c.1863C>T:p.Asn621=	coding	Benign
10	96620520	C	T	C96620520T	PIK3AP1	NM_152309.3(PIK3AP1):c.1773G>A:p.Ser591=	coding	Benign
10	96626801	G	A	G96626801A	PIK3AP1	NM_152309.3(PIK3AP1):c.1576C>T:p.Leu526=	coding	Benign
10	96628501	G	A	G96628501A	PIK3AP1	NM_152309.3(PIK3AP1):c.1376-8C>T	noncoding	Benign
10	96656816	C	T	C96656816T	PIK3AP1	NM_152309.3(PIK3AP1):c.549G>A:p.Pro183=	coding	Benign
10	96709637	A	G	A96709637G	PIK3AP1	NM_152309.3(PIK3AP1):c.360T>C:p.His120=	coding	Benign
10	96709750	C	A	C96709750A	PIK3AP1	NM_152309.3(PIK3AP1):c.247G>T:p.Ala83Ser	coding	Benign
10	96709936	C	T	C96709936T	PIK3AP1	NM_152309.3(PIK3AP1):c.61G>A:p.Glu21Lys	coding	Benign
10	97049109	C	G	C97049109G	SLIT1	NM_003061.3(SLIT1):c.1311G>C:p.Ala437=	coding	Benign
10	97445775	G	A	G97445775A	EXOSC1	NM_016046.5(EXOSC1):c.104C>T:p.Ser35Leu	coding	Pathogenic
10	97584164	G	A	G97584164A	HOGA1	Single_allele	noncoding	Benign
10	97584705	T	G	T97584705G	HOGA1	NM_138413.4(HOGA1):c.2T>G:p.Met1Arg	coding	Pathogenic
10	97584706	G	T	G97584706T	HOGA1	NM_138413.4(HOGA1):c.3G>T:p.Met1Ile	coding	Pathogenic
10	97598436	A	T	A97598436T	HOGA1	NM_138413.4(HOGA1):c.212-339A>T	noncoding	Benign
10	97598754	A	G	A97598754G	HOGA1	NM_138413.4(HOGA1):c.212-21A>G	noncoding	Benign/Likely_benign
10	97598790	G	A	G97598790A	HOGA1	NM_138413.4(HOGA1):c.227G>A:p.Gly76Asp	coding	Pathogenic
10	97598929	G	C	G97598929C	HOGA1	NM_138413.4(HOGA1):c.340+26G>C	noncoding	Benign
10	97599168	C	G	C97599168G	HOGA1	NM_138413.4(HOGA1):c.420C>G:p.Tyr140Ter	coding	Pathogenic
10	97599407	G	A	G97599407A	HOGA1	NM_138413.4(HOGA1):c.468+191G>A	noncoding	Benign
10	97599649	C	T	C97599649T	HOGA1	NM_138413.4(HOGA1):c.469-31C>T	noncoding	Benign
10	97599655	C	T	C97599655T	HOGA1	NM_138413.4(HOGA1):c.469-25C>T	noncoding	Benign
10	97599780	C	T	C97599780T	HOGA1	NM_138413.4(HOGA1):c.569C>T:p.Pro190Leu	coding	Pathogenic
10	97599982	T	C	T97599982C	HOGA1	NM_138413.4(HOGA1):c.604-85T>C	noncoding	Benign
10	97600163	G	T	G97600163T	HOGA1	NM_138413.4(HOGA1):c.700G>T:p.Gly234Ter	coding	Pathogenic
10	97600230	G	A	G97600230A	HOGA1	NM_138413.4(HOGA1):c.700+67G>A	noncoding	Benign/Likely_benign
10	97601968	G	A	G97601968A	HOGA1	NM_138413.4(HOGA1):c.812G>A:p.Arg271His	coding	Pathogenic
10	97601992	T	C	T97601992C	HOGA1	NM_138413.4(HOGA1):c.834+2T>C	noncoding	Pathogenic
10	97602220	G	A	G97602220A	HOGA1	NM_138413.4(HOGA1):c.834+230G>A	noncoding	Benign
10	97611390	A	G	A97611390G	HOGA1	NM_138413.4(HOGA1):c.835-120A>G	noncoding	Benign
10	97744713	G	A	G97744713A	ZFYVE27	NM_001385875.1(ZFYVE27):c.269-16G>A	noncoding	Benign
10	97744968	A	G	A97744968G	ZFYVE27	NM_001385875.1(ZFYVE27):c.455+53A>G	noncoding	Benign
10	97745024	C	T	C97745024T	ZFYVE27	NM_001385875.1(ZFYVE27):c.455+109C>T	noncoding	Benign
10	97748049	T	A	T97748049A	ZFYVE27	NM_001385875.1(ZFYVE27):c.456-220T>A	noncoding	Benign
10	97748112	T	C	T97748112C	ZFYVE27	NM_001385875.1(ZFYVE27):c.456-157T>C	noncoding	Benign
10	97748385	C	T	C97748385T	ZFYVE27	NM_001385875.1(ZFYVE27):c.551+21C>T	noncoding	Benign
10	97748600	A	G	A97748600G	ZFYVE27	NM_001385875.1(ZFYVE27):c.551+236A>G	noncoding	Benign
10	97748651	C	T	C97748651T	ZFYVE27	NM_001385875.1(ZFYVE27):c.551+287C>T	noncoding	Benign
10	97749700	T	G	T97749700G	ZFYVE27	NM_001385875.1(ZFYVE27):c.664+114T>G	noncoding	Benign
10	97750212	T	C	T97750212C	ZFYVE27	NM_001385875.1(ZFYVE27):c.665-119T>C	noncoding	Benign
10	97750311	G	T	G97750311T	ZFYVE27	NM_001385875.1(ZFYVE27):c.665-20G>T	noncoding	Benign
10	97750527	T	C	T97750527C	ZFYVE27	NM_001385875.1(ZFYVE27):c.804+57T>C	noncoding	Benign
10	97750574	A	G	A97750574G	ZFYVE27	NM_001385875.1(ZFYVE27):c.804+104A>G	noncoding	Benign
10	97751205	C	T	C97751205T	ZFYVE27	NM_001385875.1(ZFYVE27):c.805-186C>T	noncoding	Benign
10	97751672	C	T	C97751672T	ZFYVE27	NM_001385875.1(ZFYVE27):c.876+210C>T	noncoding	Benign
10	97752715	T	C	T97752715C	ZFYVE27	NM_001385875.1(ZFYVE27):c.877-142T>C	noncoding	Benign
10	97757198	G	A	G97757198A	ZFYVE27	NM_001385875.1(ZFYVE27):c.1043-67G>A	noncoding	Benign
10	97757598	A	G	A97757598G	ZFYVE27	NM_001385875.1(ZFYVE27):c.1090-44A>G	noncoding	Benign
10	97757859	C	A	C97757859A	ZFYVE27	NM_001385875.1(ZFYVE27):c.1171+136C>A	noncoding	Benign
10	97759053	C	T	C97759053T	ZFYVE27	NM_001385875.1(ZFYVE27):c.1172-183C>T	noncoding	Benign
10	97759117	G	A	G97759117A	ZFYVE27	NM_001385875.1(ZFYVE27):c.1172-119G>A	noncoding	Benign
10	97759144	G	C	G97759144C	ZFYVE27	NM_001385875.1(ZFYVE27):c.1172-92G>C	noncoding	Benign
10	98418173	A	G	A98418173G	HPS1	NM_000195.5(HPS1):c.1940+2T>C	noncoding	Pathogenic
10	98418245	G	A	G98418245A	HPS1	NM_000195.5(HPS1):c.1870C>T:p.Gln624Ter	coding	Pathogenic
10	98418258	C	T	C98418258T	HPS1	NM_000195.5(HPS1):c.1858-1G>A	coding	Pathogenic/Likely_pathogenic
10	98420217	T	C	T98420217C	HPS1	NM_000195.5(HPS1):c.1744-59A>G	noncoding	Benign
10	98420360	C	T	C98420360T	HPS1	NM_000195.5(HPS1):c.1744-202G>A	noncoding	Benign
10	98422090	T	C	T98422090C	HPS1	NM_000195.5(HPS1):c.1743+279A>G	noncoding	Benign
10	98422815	C	T	C98422815T	HPS1	NM_000195.5(HPS1):c.1599-302G>A	noncoding	Benign
10	98423463	T	C	T98423463C	HPS1	NM_000195.5(HPS1):c.1598+140A>G	noncoding	Benign
10	98423772	G	A	G98423772A	HPS1	NM_000195.5(HPS1):c.1513C>T:p.Gln505Ter	coding	Pathogenic
10	98423778	G	A	G98423778A	HPS1	NM_000195.5(HPS1):c.1507C>T:p.Gln503Ter	coding	Pathogenic
10	98424479	G	C	G98424479C	HPS1	NM_000195.5(HPS1):c.1336-105C>G	noncoding	Benign
10	98425417	C	T	C98425417T	HPS1	NM_000195.5(HPS1):c.1335+124G>A	noncoding	Benign
10	98425453	T	C	T98425453C	HPS1	NM_000195.5(HPS1):c.1335+88A>G	noncoding	Benign
10	98425561	G	A	G98425561A	HPS1	NM_000195.5(HPS1):c.1315C>T:p.Arg439Ter	coding	Pathogenic
10	98425849	C	T	C98425849T	HPS1	NM_000195.5(HPS1):c.1124G>A:p.Trp375Ter	coding	Pathogenic
10	98425916	G	A	G98425916A	HPS1	NM_000195.5(HPS1):c.1057C>T:p.Leu353=	coding	Benign
10	98425986	C	A	C98425986A	HPS1	NM_000195.5(HPS1):c.988-1G>T	coding	Pathogenic/Likely_pathogenic
10	98426061	C	T	C98426061T	HPS1	NM_000195.5(HPS1):c.988-76G>A	noncoding	Benign
10	98427157	A	G	A98427157G	HPS1	NM_000195.5(HPS1):c.987+58T>C	noncoding	Benign
10	98427375	T	C	T98427375C	HPS1	NM_000195.5(HPS1):c.938-111A>G	noncoding	Benign
10	98429319	G	C	G98429319C	HPS1	NM_000195.5(HPS1):c.937+254C>G	coding	Benign
10	98429381	A	G	A98429381G	HPS1	NM_000195.5(HPS1):c.937+192T>C	coding	Benign
10	98429416	G	A	G98429416A	HPS1	NM_000195.5(HPS1):c.937+157C>T	coding	Benign
10	98429485	G	A	G98429485A	HPS1	NM_000195.5(HPS1):c.937+88C>T	coding	Benign
10	98429495	G	A	G98429495A	HPS1	NM_000195.5(HPS1):c.937+78C>T	coding	Benign
10	98429573	C	T	C98429573T	HPS1	NM_000195.5(HPS1):c.937G>A:p.Gly313Ser	coding	Pathogenic
10	98429582	G	A	G98429582A	HPS1	NM_000195.5(HPS1):c.928C>T:p.Gln310Ter	coding	Pathogenic
10	98429844	G	A	G98429844A	HPS1	NM_000195.5(HPS1):c.814C>T:p.Gln272Ter	coding	Pathogenic
10	98430017	T	C	T98430017C	HPS1	NM_000195.5(HPS1):c.769-128A>G	noncoding	Benign
10	98430171	A	G	A98430171G	HPS1	NM_000195.5(HPS1):c.769-282T>C	noncoding	Benign
10	98430507	T	C	T98430507C	HPS1	NM_000195.5(HPS1):c.768+64A>G	noncoding	Benign
10	98430615	G	A	G98430615A	HPS1	NM_000195.5(HPS1):c.724C>T:p.Gln242Ter	coding	Pathogenic
10	98430687	A	G	A98430687G	HPS1	NM_000195.5(HPS1):c.669-17T>C	noncoding	Benign/Likely_benign
10	98431189	C	A	C98431189A	HPS1	NM_000195.5(HPS1):c.610G>T:p.Glu204Ter	coding	Pathogenic
10	98433730	C	T	C98433730T	HPS1	NM_000195.5(HPS1):c.507+253G>A	noncoding	Benign
10	98433758	G	A	G98433758A	HPS1	NM_000195.5(HPS1):c.507+225C>T	noncoding	Benign
10	98433769	A	C	A98433769C	HPS1	NM_000195.5(HPS1):c.507+214T>G	noncoding	Benign
10	98433800	T	C	T98433800C	HPS1	NM_000195.5(HPS1):c.507+183A>G	noncoding	Benign
10	98433922	G	C	G98433922C	HPS1	NM_000195.5(HPS1):c.507+61C>G	noncoding	Benign
10	98434201	A	G	A98434201G	HPS1	NM_000195.5(HPS1):c.399-110T>C	noncoding	Benign
10	98434284	C	A	C98434284A	HPS1	NM_000195.5(HPS1):c.399-193G>T	noncoding	Benign
10	98434959	T	C	T98434959C	HPS1	NM_000195.5(HPS1):c.398+313A>G	noncoding	Benign
10	98435072	T	C	T98435072C	HPS1	NM_000195.5(HPS1):c.398+200A>G	noncoding	Benign
10	98435127	G	T	G98435127T	HPS1	NM_000195.5(HPS1):c.398+145C>A	noncoding	Benign
10	98435152	T	C	T98435152C	HPS1	NM_000195.5(HPS1):c.398+120A>G	noncoding	Benign
10	98435826	T	A	T98435826A	HPS1	NM_000195.5(HPS1):c.118-54A>T	noncoding	Benign
10	98442871	C	A	C98442871A	HPS1	NM_000195.5(HPS1):c.117+253G>T	noncoding	Benign
10	98443232	G	T	G98443232T	HPS1	NM_000195.5(HPS1):c.9C>A:p.Cys3Ter	coding	Pathogenic
10	98459505	G	T	G98459505T	HPSE2	NM_021828.5(HPSE2):c.*69C>A	noncoding	Benign
10	98459557	G	A	G98459557A	HPSE2	NM_021828.5(HPSE2):c.*17C>T	noncoding	Benign
10	98459762	G	A	G98459762A	HPSE2	NM_021828.5(HPSE2):c.1614-23C>T	noncoding	Benign
10	98461509	T	C	T98461509C	HPSE2	NM_021828.5(HPSE2):c.1614-1770A>G	noncoding	Benign
10	98461839	G	A	G98461839A	HPSE2	NM_021828.5(HPSE2):c.1614-2100C>T	noncoding	Benign
10	98482352	T	G	T98482352G	HPSE2	NM_021828.5(HPSE2):c.1613+284A>C	noncoding	Benign
10	98482438	C	T	C98482438T	HPSE2	NM_021828.5(HPSE2):c.1613+198G>A	noncoding	Benign
10	98482588	C	G	C98482588G	HPSE2	NM_021828.5(HPSE2):c.1613+48G>C	noncoding	Benign
10	98490207	T	C	T98490207C	HPSE2	NM_021828.5(HPSE2):c.1321-11A>G	noncoding	Benign
10	98490295	G	T	G98490295T	HPSE2	NM_021828.5(HPSE2):c.1321-99C>A	noncoding	Benign
10	98490429	A	C	A98490429C	HPSE2	NM_021828.5(HPSE2):c.1321-233T>G	noncoding	Benign
10	98614605	C	T	C98614605T	HPSE2	NM_021828.5(HPSE2):c.1320+299G>A	noncoding	Benign
10	98614748	C	T	C98614748T	HPSE2	NM_021828.5(HPSE2):c.1320+156G>A	noncoding	Benign
10	98620469	T	C	T98620469C	HPSE2	NM_021828.5(HPSE2):c.1205+133A>G	noncoding	Benign
10	98620653	G	A	G98620653A	HPSE2	NM_021828.5(HPSE2):c.1154C>T:p.Thr385Ile	coding	Benign
10	98620709	C	T	C98620709T	HPSE2	NM_021828.5(HPSE2):c.1099-1G>A	coding	Pathogenic
10	98620710	T	C	T98620710C	HPSE2	NM_021828.5(HPSE2):c.1099-2A>G	noncoding	Pathogenic
10	98641658	T	C	T98641658C	HPSE2	NM_021828.5(HPSE2):c.1098+189A>G	noncoding	Benign
10	98641988	T	C	T98641988C	HPSE2	NM_021828.5(HPSE2):c.1005-48A>G	noncoding	Benign
10	98642176	G	A	G98642176A	HPSE2	NM_021828.5(HPSE2):c.1005-236C>T	noncoding	Benign
10	98642199	T	C	T98642199C	HPSE2	NM_021828.5(HPSE2):c.1005-259A>G	noncoding	Benign
10	98721548	T	C	T98721548C	HPSE2	NM_021828.5(HPSE2):c.956+109A>G	noncoding	Benign
10	98721711	A	T	A98721711T	HPSE2	NM_021828.5(HPSE2):c.902T>A:p.Leu301Ter	coding	Pathogenic
10	98744036	A	G	A98744036G	HPSE2	NM_021828.5(HPSE2):c.631T>C:p.Tyr211His	coding	Benign
10	98744179	T	G	T98744179G	HPSE2	NM_021828.5(HPSE2):c.611-123A>C	noncoding	Benign
10	99232255	A	G	A99232255G	HPSE2	NM_021828.5(HPSE2):c.448+93T>C	noncoding	Benign
10	99232367	A	T	A99232367T	HPSE2	NM_021828.5(HPSE2):c.429T>A:p.Tyr143Ter	coding	Pathogenic
10	99232550	C	T	C99232550T	HPSE2	NM_021828.5(HPSE2):c.291-45G>A	noncoding	Benign
10	99232748	G	C	G99232748C	HPSE2	NM_021828.5(HPSE2):c.291-243C>G	noncoding	Benign
10	99329029	C	A	C99329029A	CNNM1	Single_allele	noncoding	Benign
10	99329173	C	G	C99329173G	CNNM1	Single_allele	noncoding	Benign
10	99330053	G	A	G99330053A	CNNM1	NM_020348.3(CNNM1):c.666G>A:p.Ala222=	coding	Benign
10	99330671	T	G	T99330671G	CNNM1	NM_020348.3(CNNM1):c.1284T>G:p.Val428=	coding	Benign
10	99357800	G	A	G99357800A	CNNM1	NM_020348.3(CNNM1):c.1717+145G>A	noncoding	Benign
10	99361030	C	T	C99361030T	CNNM1	NM_020348.3(CNNM1):c.1858+55C>T	noncoding	Benign
10	99364843	C	A	C99364843A	CNNM1	NM_020348.3(CNNM1):c.2129-112C>A	noncoding	Benign
10	99377306	G	A	G99377306A	CNNM1	NM_020348.3(CNNM1):c.2340+88G>A	noncoding	Benign
10	99387935	G	A	G99387935A	CNNM1	NM_020348.3(CNNM1):c.2456G>A:p.Arg819Gln	coding	Benign
10	99387963	C	T	C99387963T	CNNM1	NM_020348.3(CNNM1):c.2484C>T:p.Asp828=	coding	Benign
10	99390499	A	G	A99390499G	CNNM1	NM_020348.3(CNNM1):c.2776+92A>G	noncoding	Benign
10	99390590	C	A	C99390590A	CNNM1	NM_020348.3(CNNM1):c.2776+183C>A	noncoding	Benign
10	99714742	T	C	T99714742C	COX15	NM_078470.6(COX15):c.1102-24A>G	noncoding	Benign
10	99727098	G	C	G99727098C	COX15	NM_078470.6(COX15):c.452C>G:p.Ser151Ter	coding	Pathogenic
10	99727531	C	T	C99727531T	COX15	NM_078470.6(COX15):c.305G>A:p.Trp102Ter	coding	Pathogenic/Likely_pathogenic
10	99729983	T	A	T99729983A	COX15	NM_078470.6(COX15):c.91-249A>T	noncoding	Benign
10	99792145	C	T	C99792145T	ABCC2	NM_000392.5(ABCC2):c.208-89C>T	noncoding	Benign
10	99793502	C	T	C99793502T	ABCC2	NM_000392.5(ABCC2):c.334-49C>T	noncoding	Benign
10	99794000	G	A	G99794000A	ABCC2	NM_000392.5(ABCC2):c.576+1G>A	coding	Pathogenic
10	99797572	A	C	A99797572C	ABCC2	NM_000392.5(ABCC2):c.867+241A>C	noncoding	Benign
10	99798989	G	T	G99798989T	ABCC2	NM_000392.5(ABCC2):c.868-218G>T	noncoding	Benign
10	99799658	A	G	A99799658G	ABCC2	NM_000392.5(ABCC2):c.1031+288A>G	noncoding	Benign
10	99807109	T	A	T99807109A	ABCC2	NM_000392.5(ABCC2):c.1531-275T>A	noncoding	Benign
10	99807669	A	G	A99807669G	ABCC2	NM_000392.5(ABCC2):c.1668+148A>G	noncoding	Benign
10	99807744	C	A	C99807744A	ABCC2	NM_000392.5(ABCC2):c.1668+223C>A	noncoding	Benign
10	99807863	A	C	A99807863C	ABCC2	NM_000392.5(ABCC2):c.1669-220A>C	noncoding	Benign
10	99807915	G	A	G99807915A	ABCC2	NM_000392.5(ABCC2):c.1669-168G>A	noncoding	Benign
10	99808256	C	G	C99808256G	ABCC2	NM_000392.5(ABCC2):c.1815+27C>G	noncoding	Benign
10	99810200	C	T	C99810200T	ABCC2	NM_000392.5(ABCC2):c.1882C>T:p.Arg628Ter	coding	Pathogenic
10	99810240	T	C	T99810240C	ABCC2	NM_000392.5(ABCC2):c.1900+22T>C	noncoding	Benign
10	99811771	C	T	C99811771T	ABCC2	NM_000392.5(ABCC2):c.1967+169C>T	noncoding	Benign
10	99817203	T	C	T99817203C	ABCC2	NM_000392.5(ABCC2):c.2095-105T>C	noncoding	Benign
10	99817261	G	A	G99817261A	ABCC2	NM_000392.5(ABCC2):c.2095-47G>A	noncoding	Benign
10	99818560	C	T	C99818560T	ABCC2	NM_000392.5(ABCC2):c.2272-230C>T	noncoding	Benign
10	99830168	G	A	G99830168A	ABCC2	NM_000392.5(ABCC2):c.2621-139G>A	noncoding	Benign
10	99832187	T	C	T99832187C	ABCC2	NM_000392.5(ABCC2):c.3258+56T>C	noncoding	Benign
10	99834652	G	T	G99834652T	ABCC2	NM_000392.5(ABCC2):c.3414+117G>T	noncoding	Benign
10	99841657	T	C	T99841657C	ABCC2	NM_000392.5(ABCC2):c.3615-310T>C	noncoding	Benign
10	99841907	T	C	T99841907C	ABCC2	NM_000392.5(ABCC2):c.3615-60T>C	noncoding	Benign
10	99842247	T	C	T99842247C	ABCC2	NM_000392.5(ABCC2):c.3741+154T>C	noncoding	Benign
10	99843765	T	C	T99843765C	ABCC2	NM_000392.5(ABCC2):c.3742-34T>C	noncoding	Benign
10	99844024	C	G	C99844024G	ABCC2	NM_000392.5(ABCC2):c.3843+124C>G	noncoding	Benign
10	99844249	A	G	A99844249G	ABCC2	NM_000392.5(ABCC2):c.3844-73A>G	noncoding	Benign
10	99844724	T	C	T99844724C	ABCC2	NM_000392.5(ABCC2):c.3987+259T>C	noncoding	Benign
10	99845936	A	G	A99845936G	ABCC2	NM_000392.5(ABCC2):c.4146+154A>G	noncoding	Benign
10	99846693	T	C	T99846693C	ABCC2	NM_000392.5(ABCC2):c.4147-268T>C	noncoding	Benign
10	99846779	C	G	C99846779G	ABCC2	NM_000392.5(ABCC2):c.4147-182C>G	noncoding	Benign
10	99846786	G	C	G99846786C	ABCC2	NM_000392.5(ABCC2):c.4147-175G>C	noncoding	Benign
10	99846926	G	A	G99846926A	ABCC2	NM_000392.5(ABCC2):c.4147-35G>A	noncoding	Benign
10	99847274	C	G	C99847274G	ABCC2	NM_000392.5(ABCC2):c.4313+147C>G	noncoding	Benign
10	99847340	G	A	G99847340A	ABCC2	NM_000392.5(ABCC2):c.4313+213G>A	noncoding	Benign
10	99850346	G	A	G99850346A	ABCC2	NM_000392.5(ABCC2):c.4314-256G>A	noncoding	Benign
10	99850966	A	G	A99850966G	ABCC2	NM_000392.5(ABCC2):c.4508+170A>G	noncoding	Benign
10	99851236	C	A	C99851236A	ABCC2	NM_000392.5(ABCC2):c.4509-266C>A	noncoding	Benign
10	99851412	A	G	A99851412G	ABCC2	NM_000392.5(ABCC2):c.4509-90A>G	noncoding	Benign
10	99880039	G	A	G99880039A	DNMBP	NM_015221.4(DNMBP):c.4320C>T:p.Ser1440=	coding	Benign
10	99880120	A	C	A99880120C	DNMBP	NM_015221.4(DNMBP):c.4239T>G:p.Cys1413Trp	coding	Benign
10	99885741	T	C	T99885741C	DNMBP	NM_015221.4(DNMBP):c.3744A>G:p.Pro1248=	coding	Benign
10	99894939	T	C	T99894939C	DNMBP	NM_015221.4(DNMBP):c.3156+7A>G	noncoding	Benign
10	99898123	G	A	G99898123A	DNMBP	NM_015221.4(DNMBP):c.2883C>T:p.Asn961=	coding	Benign
10	99956142	G	A	G99956142A	DNMBP	NM_015221.4(DNMBP):c.1332C>T:p.Pro444=	coding	Benign
10	99956355	G	C	G99956355C	DNMBP	NM_015221.4(DNMBP):c.1119C>G:p.Asn373Lys	coding	Benign
10	100151918	T	C	T100151918C	ERLIN1	NM_006459.4(ERLIN1):c.*213A>G	noncoding	Benign/Likely_benign
10	100152307	T	C	T100152307C	ERLIN1	NM_006459.4(ERLIN1):c.871A>G:p.Ile291Val	coding	Benign
10	100152437	C	T	C100152437T	ERLIN1	NM_006459.4(ERLIN1):c.826-85G>A	noncoding	Benign
10	100155872	C	T	C100155872T	ERLIN1	NM_006459.4(ERLIN1):c.745+273G>A	noncoding	Benign
10	100167290	A	G	A100167290G	ERLIN1	NM_006459.4(ERLIN1):c.563+58T>C	noncoding	Benign
10	100167711	G	A	G100167711A	ERLIN1	NM_006459.4(ERLIN1):c.505-305C>T	noncoding	Benign
10	100174478	C	T	C100174478T	ERLIN1	NM_006459.4(ERLIN1):c.431-197G>A	noncoding	Benign
10	100178212	A	G	A100178212G	ERLIN1	NM_006459.4(ERLIN1):c.243-18T>C	noncoding	Benign
10	100178213	A	C	A100178213C	ERLIN1	NM_006459.4(ERLIN1):c.243-19T>G	noncoding	Benign
10	100178264	G	A	G100178264A	ERLIN1	NM_006459.4(ERLIN1):c.243-70C>T	noncoding	Benign
10	100178377	T	A	T100178377A	ERLIN1	NM_006459.4(ERLIN1):c.243-183A>T	noncoding	Benign
10	100178957	A	G	A100178957G	ERLIN1	NM_006459.4(ERLIN1):c.242+244T>C	noncoding	Benign
10	100179115	T	C	T100179115C	ERLIN1	NM_006459.4(ERLIN1):c.242+86A>G	noncoding	Benign
10	100183966	G	A	G100183966A	ERLIN1	NM_006459.4(ERLIN1):c.114-129C>T	noncoding	Benign
10	100186257	C	G	C100186257G	ERLIN1	Single_allele	noncoding	Benign
10	100186276	G	A	G100186276A	ERLIN1	Single_allele	noncoding	Benign
10	100189674	T	G	T100189674G	CHUK	NM_001278.5(CHUK):c.2209-47A>C	noncoding	Benign
10	100193518	C	G	C100193518G	CHUK	NM_001278.5(CHUK):c.1975-87G>C	noncoding	Benign
10	100193524	C	T	C100193524T	CHUK	NM_001278.5(CHUK):c.1975-93G>A	noncoding	Benign
10	100193568	A	G	A100193568G	CHUK	NM_001278.5(CHUK):c.1975-137T>C	noncoding	Benign
10	100193948	A	C	A100193948C	CHUK	NM_001278.5(CHUK):c.1974+36T>G	noncoding	Benign
10	100194165	C	T	C100194165T	CHUK	NM_001278.5(CHUK):c.1827-34G>A	noncoding	Benign
10	100194168	G	T	G100194168T	CHUK	NM_001278.5(CHUK):c.1827-37C>A	noncoding	Benign
10	100194590	C	T	C100194590T	CHUK	NM_001278.5(CHUK):c.1730-69G>A	noncoding	Benign
10	100200385	G	A	G100200385A	CHUK	NM_001278.5(CHUK):c.1679+286C>T	noncoding	Benign
10	100202455	T	C	T100202455C	CHUK	NM_001278.5(CHUK):c.1508-306A>G	noncoding	Benign
10	100204516	C	T	C100204516T	CHUK	NM_001278.5(CHUK):c.1497G>A:p.Thr499=	coding	Benign
10	100204555	G	A	G100204555A	CHUK	NM_001278.5(CHUK):c.1458C>T:p.Ser486=	coding	Benign
10	100205182	G	A	G100205182A	CHUK	NM_001278.5(CHUK):c.1249C>T:p.Gln417Ter	coding	Pathogenic
10	100207067	C	T	C100207067T	CHUK	NM_001278.5(CHUK):c.1231+163G>A	noncoding	Benign
10	100207455	C	G	C100207455G	CHUK	NM_001278.5(CHUK):c.1129-123G>C	noncoding	Benign
10	100207636	G	A	G100207636A	CHUK	NM_001278.5(CHUK):c.1129-304C>T	noncoding	Benign
10	100207653	G	A	G100207653A	CHUK	NM_001278.5(CHUK):c.1129-321C>T	noncoding	Benign
10	100209791	T	C	T100209791C	CHUK	NM_001278.5(CHUK):c.934-2A>G	noncoding	Pathogenic
10	100209893	C	A	C100209893A	CHUK	NM_001278.5(CHUK):c.934-104G>T	noncoding	Benign
10	100210054	G	A	G100210054A	CHUK	NM_001278.5(CHUK):c.934-265C>T	noncoding	Benign
10	100218126	C	T	C100218126T	CHUK	NM_001278.5(CHUK):c.802G>A:p.Val268Ile	coding	Benign
10	100218614	G	A	G100218614A	CHUK	NM_001278.5(CHUK):c.797+104C>T	noncoding	Benign
10	100218929	A	C	A100218929C	CHUK	NM_001278.5(CHUK):c.689+79T>G	noncoding	Benign
10	100219439	G	A	G100219439A	CHUK	NM_001278.5(CHUK):c.475-80C>T	noncoding	Benign
10	100219496	T	C	T100219496C	CHUK	NM_001278.5(CHUK):c.475-137A>G	noncoding	Benign
10	100220598	A	G	A100220598G	CHUK	NM_001278.5(CHUK):c.464T>C:p.Val155Ala	coding	Benign
10	100220635	G	A	G100220635A	CHUK	NM_001278.5(CHUK):c.427C>T:p.Arg143Ter	coding	Pathogenic
10	100220702	A	G	A100220702G	CHUK	NM_001278.5(CHUK):c.386-26T>C	noncoding	Benign
10	100220950	A	C	A100220950C	CHUK	NM_001278.5(CHUK):c.386-274T>G	noncoding	Benign
10	100220965	C	T	C100220965T	CHUK	NM_001278.5(CHUK):c.386-289G>A	noncoding	Benign
10	100222302	A	G	A100222302G	CHUK	NM_001278.5(CHUK):c.316-121T>C	noncoding	Benign
10	100229415	C	T	C100229415T	CHUK	NM_001278.5(CHUK):c.105+13G>A	noncoding	Benign
10	100229416	G	A	G100229416A	CHUK	NM_001278.5(CHUK):c.105+12C>T	noncoding	Benign
10	100229464	G	C	G100229464C	CHUK	NM_001278.5(CHUK):c.69C>G:p.Thr23=	coding	Benign
10	100229692	G	T	G100229692T	CHUK	Single_allele	noncoding	Benign
10	100229753	C	T	C100229753T	CHUK	Single_allele	noncoding	Benign
10	100246924	C	T	C100246924T	CWF19L1	NM_018294.6(CWF19L1):c.720G>A:p.Ala240=	coding	Benign
10	100253524	T	A	T100253524A	CWF19L1	NM_018294.6(CWF19L1):c.520A>T:p.Lys174Ter	coding	Pathogenic
10	100523885	G	A	G100523885A	NDUFB8	NM_005004.4(NDUFB8):c.513C>T:p.Gly171=	coding	Benign
10	100526388	C	T	C100526388T	NDUFB8	NM_005004.4(NDUFB8):c.468+11G>A	noncoding	Benign
10	100526422	C	T	C100526422T	NDUFB8	NM_005004.4(NDUFB8):c.445G>A:p.Val149Met	coding	Benign
10	100526494	A	T	A100526494T	NDUFB8	NM_005004.4(NDUFB8):c.373T>A:p.Ser125Thr	coding	Benign
10	100526976	G	A	G100526976A	NDUFB8	NM_005004.4(NDUFB8):c.311C>T:p.Pro104Leu	coding	Benign
10	100529321	C	A	C100529321A	NDUFB8	NM_005004.4(NDUFB8):c.212+59G>T	noncoding	Benign
10	100529731	C	T	C100529731T	NDUFB8	NM_005004.4(NDUFB8):c.85+36G>A	noncoding	Benign
10	100529986	C	G	C100529986G	NDUFB8	Single_allele	noncoding	Benign
10	100735764	A	G	A100735764G	PAX2	NM_001304569.2(PAX2):c.25+31A>G	noncoding	Benign
10	100745390	A	T	A100745390T	PAX2	NM_001304569.2(PAX2):c.26-803A>T	noncoding	Benign
10	100745602	C	A	C100745602A	PAX2	NM_000278.5(PAX2):c.-659C>A	noncoding	Benign
10	100745886	C	A	C100745886A	PAX2	NM_000278.5(PAX2):c.-375C>A	coding	Benign
10	100746058	A	G	A100746058G	PAX2	NM_000278.5(PAX2):c.-203A>G	coding	Benign
10	100746101	G	T	G100746101T	PAX2	NM_000278.5(PAX2):c.-160G>T	coding	Benign
10	100746316	G	T	G100746316T	PAX2	NM_000278.5(PAX2):c.43+13G>T	noncoding	Benign
10	100746346	C	A	C100746346A	PAX2	NM_000278.5(PAX2):c.43+43C>A	noncoding	Benign
10	100749518	A	C	A100749518C	PAX2	NM_000278.5(PAX2):c.44-228A>C	noncoding	Benign
10	100749566	T	C	T100749566C	PAX2	NM_000278.5(PAX2):c.44-180T>C	noncoding	Benign
10	100749926	G	A	G100749926A	PAX2	NM_000278.5(PAX2):c.212+12G>A	noncoding	Benign
10	100750214	C	T	C100750214T	PAX2	NM_000278.5(PAX2):c.212+300C>T	noncoding	Benign
10	100750537	G	A	G100750537A	PAX2	NM_000278.5(PAX2):c.213-157G>A	noncoding	Benign
10	100750689	C	T	C100750689T	PAX2	NM_000278.5(PAX2):c.213-5C>T	noncoding	Benign
10	100750731	G	A	G100750731A	PAX2	NM_000278.5(PAX2):c.250G>A:p.Gly84Ser	coding	Pathogenic
10	100750791	C	T	C100750791T	PAX2	NM_000278.5(PAX2):c.310C>T:p.Arg104Ter	coding	Pathogenic
10	100750824	C	T	C100750824T	PAX2	NM_000278.5(PAX2):c.343C>T:p.Arg115Ter	coding	Pathogenic
10	100750890	A	T	A100750890T	PAX2	NM_000278.5(PAX2):c.409A>T:p.Arg137Ter	coding	Pathogenic
10	100779505	C	T	C100779505T	PAX2	NM_000278.5(PAX2):c.418C>T:p.Arg140Trp	coding	Pathogenic
10	100779517	C	T	C100779517T	PAX2	NM_000278.5(PAX2):c.430C>T:p.Gln144Ter	coding	Pathogenic
10	100779672	C	G	C100779672G	PAX2	NM_000278.5(PAX2):c.496+89C>G	noncoding	Benign
10	100781245	G	A	G100781245A	PAX2	NM_000278.5(PAX2):c.497-1G>A	noncoding	Pathogenic
10	100781691	G	A	G100781691A	PAX2	NM_000278.5(PAX2):c.616+326G>A	noncoding	Benign
10	100786702	C	T	C100786702T	PAX2	NM_000278.5(PAX2):c.616+5337C>T	noncoding	Benign
10	100806498	C	T	C100806498T	PAX2	NM_000278.5(PAX2):c.685C>T:p.Arg229Ter	coding	Pathogenic
10	100806598	C	A	C100806598A	PAX2	NM_000278.5(PAX2):c.785C>A:p.Ser262Ter	coding	Pathogenic
10	100806614	G	A	G100806614A	PAX2	NM_000278.5(PAX2):c.792+9G>A	noncoding	Benign
10	100806757	T	C	T100806757C	PAX2	NM_000278.5(PAX2):c.792+152T>C	noncoding	Benign
10	100806767	T	A	T100806767A	PAX2	NM_000278.5(PAX2):c.792+162T>A	noncoding	Benign
10	100806834	T	C	T100806834C	PAX2	NM_000278.5(PAX2):c.792+229T>C	noncoding	Benign
10	100809069	G	A	G100809069A	PAX2	NM_000278.5(PAX2):c.793-41G>A	noncoding	Benign
10	100809223	C	A	C100809223A	PAX2	NM_000278.5(PAX2):c.906C>A:p.Tyr302Ter	coding	Pathogenic
10	100824636	G	A	G100824636A	PAX2	NM_000278.5(PAX2):c.920-12G>A	noncoding	Benign
10	100824691	C	T	C100824691T	PAX2	NM_000278.5(PAX2):c.963C>T:p.His321=	coding	Benign
10	100824840	G	A	G100824840A	PAX2	NM_000278.5(PAX2):c.1021+91G>A	noncoding	Benign
10	100824890	C	A	C100824890A	PAX2	NM_000278.5(PAX2):c.1021+141C>A	noncoding	Benign
10	100824942	G	A	G100824942A	PAX2	NM_000278.5(PAX2):c.1021+193G>A	coding	Benign
10	100826966	T	C	T100826966C	PAX2	NM_000278.5(PAX2):c.1022-43T>C	noncoding	Benign
10	100827626	C	A	C100827626A	PAX2	NM_000278.5(PAX2):c.*7C>A	coding	Pathogenic
10	100827718	C	T	C100827718T	PAX2	NM_000278.5(PAX2):c.*99C>T	noncoding	Benign
10	100827817	T	C	T100827817C	PAX2	NM_000278.5(PAX2):c.*198T>C	noncoding	Benign
10	100827843	G	A	G100827843A	PAX2	NM_000278.5(PAX2):c.*224G>A	noncoding	Benign
10	100989063	C	T	C100989063T	TWNK	NM_021830.5(TWNK):c.853C>T:p.Arg285Ter	coding	Pathogenic
10	100989742	A	G	A100989742G	TWNK	NM_021830.5(TWNK):c.1342A>G:p.Asn448Asp	coding	Pathogenic
10	100989787	C	T	C100989787T	TWNK	NM_021830.5(TWNK):c.1387C>T:p.Arg463Trp	coding	Pathogenic
10	100990435	G	A	G100990435A	TWNK	NM_021830.5(TWNK):c.1485-1G>A	noncoding	Pathogenic
10	100991094	G	A	G100991094A	TWNK	NM_021830.5(TWNK):c.1734+84G>A	noncoding	Benign
10	101008491	G	A	G101008491A	PDZD7	NM_001195263.2(PDZD7):c.3078C>T:p.Pro1026=	coding	Benign/Likely_benign
10	101010351	C	G	C101010351G	PDZD7	NM_001195263.2(PDZD7):c.2538G>C:p.Gly846=	coding	Benign/Likely_benign
10	101010449	T	A	T101010449A	PDZD7	NM_001195263.2(PDZD7):c.2440A>T:p.Lys814Ter	coding	Pathogenic
10	101010617	G	A	G101010617A	PDZD7	NM_001195263.2(PDZD7):c.2272C>T:p.Arg758Ter	coding	Pathogenic
10	101011446	T	C	T101011446C	PDZD7	NM_001195263.2(PDZD7):c.2005+244A>G	noncoding	Benign
10	101011753	G	A	G101011753A	PDZD7	NM_001195263.2(PDZD7):c.1942C>T:p.Pro648Ser	coding	Benign/Likely_benign
10	101011911	C	G	C101011911G	PDZD7	NM_001195263.2(PDZD7):c.1933+14G>C	noncoding	Benign
10	101011942	G	C	G101011942C	PDZD7	NM_001195263.2(PDZD7):c.1916C>G:p.Ala639Gly	coding	Benign/Likely_benign
10	101012256	A	G	A101012256G	PDZD7	NM_001195263.2(PDZD7):c.1752T>C:p.Tyr584=	coding	Benign/Likely_benign
10	101015448	T	C	T101015448C	PDZD7	NM_001195263.2(PDZD7):c.1749+188A>G	noncoding	Benign
10	101015732	A	C	A101015732C	PDZD7	NM_001195263.2(PDZD7):c.1653T>G:p.Val551=	coding	Benign/Likely_benign
10	101015806	C	T	C101015806T	PDZD7	NM_001195263.2(PDZD7):c.1579G>A:p.Glu527Lys	coding	Benign
10	101016407	G	A	G101016407A	PDZD7	NM_001195263.2(PDZD7):c.1543C>T:p.Gln515Ter	coding	Pathogenic
10	101019153	G	T	G101019153T	PDZD7	NM_001195263.2(PDZD7):c.993C>A:p.Cys331Ter	coding	Pathogenic
10	101021879	G	A	G101021879A	PDZD7	NM_001195263.2(PDZD7):c.786C>T:p.Asn262=	coding	Benign/Likely_benign
10	101022356	A	T	A101022356T	PDZD7	NM_001195263.2(PDZD7):c.572T>A:p.Val191Glu	coding	Benign/Likely_benign
10	101023388	G	C	G101023388C	PDZD7	NM_001195263.2(PDZD7):c.542+48C>G	noncoding	Benign
10	101023630	T	C	T101023630C	PDZD7	NM_001195263.2(PDZD7):c.368-20A>G	noncoding	Benign/Likely_benign
10	101023971	G	A	G101023971A	PDZD7	NM_001195263.2(PDZD7):c.324C>T:p.Gly108=	coding	Benign/Likely_benign
10	101023988	C	G	C101023988G	PDZD7	NM_001195263.2(PDZD7):c.307G>C:p.Gly103Arg	coding	Pathogenic/Likely_pathogenic
10	101024044	A	G	A101024044G	PDZD7	NM_001195263.2(PDZD7):c.251T>C:p.Ile84Thr	coding	Pathogenic
10	101024198	T	C	T101024198C	PDZD7	NM_001195263.2(PDZD7):c.227-130A>G	noncoding	Benign
10	101030305	T	C	T101030305C	PDZD7	NM_001195263.2(PDZD7):c.-86A>G	noncoding	Benign
10	101227977	G	T	G101227977T	LBX1	NM_006562.5(LBX1):c.326-187C>A	noncoding	Benign
10	101228588	G	A	G101228588A	LBX1	NM_006562.5(LBX1):c.228C>T:p.Arg76=	coding	Benign
10	101521877	C	G	C101521877G	BTRC	NM_033637.4(BTRC):c.556+7C>G	noncoding	Benign
10	101526143	C	T	C101526143T	BTRC	NM_033637.4(BTRC):c.687C>T:p.Ile229=	coding	Benign
10	101538342	G	T	G101538342T	BTRC	NM_033637.4(BTRC):c.1627G>T:p.Ala543Ser	coding	Benign
10	101550817	C	A	C101550817A	BTRC	NM_033637.4(BTRC):c.1775C>A:p.Pro592His	coding	Benign
10	101579385	G	A	G101579385A	POLL	NM_001174084.2(POLL):c.*68C>T	noncoding	Benign
10	101580299	G	A	G101580299A	POLL	NM_001174084.2(POLL):c.1312C>T:p.Arg438Trp	coding	Benign
10	101580387	A	G	A101580387G	POLL	NM_001174084.2(POLL):c.1224T>C:p.Ser408=	coding	Benign
10	101580422	A	G	A101580422G	POLL	NM_001174084.2(POLL):c.1195-6T>C	noncoding	Benign
10	101580431	G	A	G101580431A	POLL	NM_001174084.2(POLL):c.1195-15C>T	noncoding	Benign
10	101580478	T	C	T101580478C	POLL	NM_001174084.2(POLL):c.1195-62A>G	noncoding	Benign
10	101583026	G	T	G101583026T	POLL	NM_001174084.2(POLL):c.1066-135C>A	noncoding	Benign
10	101583757	A	G	A101583757G	POLL	NM_001174084.2(POLL):c.892-76T>C	noncoding	Benign
10	101583776	A	G	A101583776G	POLL	NM_001174084.2(POLL):c.892-95T>C	noncoding	Benign
10	101584832	T	G	T101584832G	POLL	NM_001174084.2(POLL):c.661A>C:p.Thr221Pro	coding	Benign
10	101585274	T	C	T101585274C	POLL	NM_001174084.2(POLL):c.573+42A>G	noncoding	Benign
10	101608897	T	C	T101608897C	DPCD	NM_015448.3(DPCD):c.467T>C:p.Leu156Ser	coding	Benign
10	101612681	C	T	C101612681T	FBXW4	NM_022039.4(FBXW4):c.1302-204G>A	noncoding	Benign
10	101771444	C	T	C101771444T	FGF8	NM_033163.5(FGF8):c.444+19G>A	noncoding	Benign
10	101774853	C	T	C101774853T	FGF8	NM_033163.5(FGF8):c.216G>A:p.Thr72=	coding	Benign
10	101775858	G	A	G101775858A	FGF8	NM_033163.5(FGF8):c.32+11C>T	noncoding	Benign/Likely_benign
10	101775935	G	A	G101775935A	FGF8	NM_033163.5(FGF8):c.-35C>T	noncoding	Benign
10	102065163	C	T	C102065163T	HPS6	Single_allele	noncoding	Benign
10	102065312	G	A	G102065312A	HPS6	Single_allele	noncoding	Benign
10	102065579	T	C	T102065579C	HPS6	NM_024747.6(HPS6):c.105T>C:p.Arg35=	coding	Benign/Likely_benign
10	102065762	G	A	G102065762A	HPS6	NM_024747.6(HPS6):c.288G>A:p.Trp96Ter	coding	Pathogenic
10	102066207	C	T	C102066207T	HPS6	NM_024747.6(HPS6):c.733C>T:p.Arg245Ter	coding	Pathogenic
10	102066504	G	T	G102066504T	HPS6	NM_024747.6(HPS6):c.1030G>T:p.Glu344Ter	coding	Pathogenic
10	102066557	C	T	C102066557T	HPS6	NM_024747.6(HPS6):c.1083C>T:p.Pro361=	coding	Benign/Likely_benign
10	102066648	C	T	C102066648T	HPS6	NM_024747.6(HPS6):c.1174C>T:p.Gln392Ter	coding	Pathogenic
10	102066885	C	T	C102066885T	HPS6	NM_024747.6(HPS6):c.1411C>T:p.Gln471Ter	coding	Pathogenic
10	102067293	C	T	C102067293T	HPS6	NM_024747.6(HPS6):c.1819C>T:p.Arg607Ter	coding	Pathogenic/Likely_pathogenic
10	102231446	G	C	G102231446C	PITX3	NM_005029.4(PITX3):c.321+142C>G	noncoding	Benign
10	102232365	T	C	T102232365C	PITX3	NM_005029.4(PITX3):c.-12-273A>G	noncoding	Benign
10	102368807	G	A	G102368807A	GBF1	NM_001377137.1(GBF1):c.2948G>A:p.Cys983Tyr	coding	Pathogenic/Likely_pathogenic
10	102370385	C	T	C102370385T	GBF1	NM_001377137.1(GBF1):c.3413C>T:p.Ala1138Val	coding	Pathogenic/Likely_pathogenic
10	102370728	G	A	G102370728A	GBF1	NM_001377137.1(GBF1):c.3528G>A:p.Trp1176Ter	coding	Pathogenic/Likely_pathogenic
10	102377031	G	A	G102377031A	GBF1	NM_001377137.1(GBF1):c.4385G>A:p.Arg1462Gln	coding	Pathogenic/Likely_pathogenic
10	102395993	G	A	G102395993A	NFKB2	NM_001322934.2(NFKB2):c.21+13G>A	noncoding	Benign/Likely_benign
10	102396843	G	C	G102396843C	NFKB2	NM_001322934.2(NFKB2):c.243+20G>C	noncoding	Benign
10	102397510	A	G	A102397510G	NFKB2	NM_001322934.2(NFKB2):c.503-17A>G	noncoding	Benign
10	102397511	T	C	T102397511C	NFKB2	NM_001322934.2(NFKB2):c.503-16T>C	noncoding	Benign
10	102398199	G	A	G102398199A	NFKB2	NM_001322934.2(NFKB2):c.767-13G>A	noncoding	Benign
10	102398377	C	A	C102398377A	NFKB2	NM_001322934.2(NFKB2):c.853-8C>A	noncoding	Benign
10	102398469	C	T	C102398469T	NFKB2	NM_001322934.2(NFKB2):c.937C>T:p.Arg313Ter	coding	Pathogenic
10	102400149	C	T	C102400149T	NFKB2	NM_001322934.2(NFKB2):c.1539C>T:p.His513=	coding	Benign
10	102400930	G	A	G102400930A	NFKB2	NM_001322934.2(NFKB2):c.1969-17G>A	noncoding	Benign
10	102401434	C	T	C102401434T	NFKB2	NM_001322934.2(NFKB2):c.2224-15C>T	noncoding	Benign
10	102401439	G	A	G102401439A	NFKB2	NM_001322934.2(NFKB2):c.2224-10G>A	noncoding	Benign
10	102402056	C	T	C102402056T	NFKB2	NM_001322934.2(NFKB2):c.2475C>T:p.Gly825=	coding	Benign
10	102402284	C	T	C102402284T	NFKB2	NM_001322934.2(NFKB2):c.2611C>T:p.Gln871Ter	coding	Pathogenic
10	102503867	T	G	T102503867G	SUFU	Single_allele	noncoding	Benign
10	102504309	C	T	C102504309T	SUFU	NM_016169.4(SUFU):c.157C>T:p.Gln53Ter	coding	Pathogenic
10	102508869	T	C	T102508869C	SUFU	NM_016169.4(SUFU):c.183-300T>C	noncoding	Benign
10	102509043	G	C	G102509043C	SUFU	NM_016169.4(SUFU):c.183-126G>C	noncoding	Benign
10	102550060	G	A	G102550060A	SUFU	NM_016169.4(SUFU):c.408G>A:p.Trp136Ter	coding	Pathogenic
10	102550107	G	A	G102550107A	SUFU	NM_016169.4(SUFU):c.454+1G>A	coding	Pathogenic
10	102593675	C	T	C102593675T	SUFU	NM_016169.4(SUFU):c.637C>T:p.Gln213Ter	coding	Pathogenic
10	102597065	A	G	A102597065G	SUFU	NM_016169.4(SUFU):c.757-75A>G	noncoding	Benign
10	102597269	C	T	C102597269T	SUFU	NM_016169.4(SUFU):c.886C>T:p.Gln296Ter	coding	Pathogenic
10	102599096	C	T	C102599096T	SUFU	NM_016169.4(SUFU):c.911-337C>T	noncoding	Benign
10	102599417	A	C	A102599417C	SUFU	NM_016169.4(SUFU):c.911-16A>C	noncoding	Benign
10	102599593	T	C	T102599593C	SUFU	NM_016169.4(SUFU):c.1022+49T>C	noncoding	Benign
10	102615304	G	A	G102615304A	SUFU	NM_016169.4(SUFU):c.1059G>A:p.Thr353=	coding	Benign/Likely_benign
10	102615501	G	A	G102615501A	SUFU	NM_016169.4(SUFU):c.1157+99G>A	noncoding	Benign
10	102617189	C	T	C102617189T	SUFU	NM_016169.4(SUFU):c.1158-101C>T	noncoding	Benign
10	102618806	G	T	G102618806T	SUFU	NM_016169.4(SUFU):c.1296+1378G>T	noncoding	Benign
10	102618993	G	A	G102618993A	SUFU	NM_016169.4(SUFU):c.1296+1565G>A	noncoding	Benign
10	102630175	T	G	T102630175G	SUFU	NM_016169.4(SUFU):c.*20T>G	noncoding	Benign
10	102644578	A	T	A102644578T	TRIM8	NM_030912.3(TRIM8):c.-40A>T	noncoding	Benign
10	102644662	C	T	C102644662T	TRIM8	NM_030912.3(TRIM8):c.45C>T:p.Cys15=	coding	Benign
10	102644887	G	A	G102644887A	TRIM8	NM_030912.3(TRIM8):c.270G>A:p.Leu90=	coding	Benign
10	102655227	C	T	C102655227T	TRIM8	NM_030912.3(TRIM8):c.814C>T:p.Leu272Phe	coding	Benign
10	102656291	C	T	C102656291T	TRIM8	NM_030912.3(TRIM8):c.954C>T:p.Ser318=	coding	Benign
10	102656929	C	T	C102656929T	TRIM8	NM_030912.3(TRIM8):c.1231C>T:p.Gln411Ter	coding	Pathogenic/Likely_pathogenic
10	102656955	C	A	C102656955A	TRIM8	NM_030912.3(TRIM8):c.1257C>A:p.Cys419Ter	coding	Pathogenic
10	102657029	C	A	C102657029A	TRIM8	NM_030912.3(TRIM8):c.1331C>A:p.Ser444Ter	coding	Pathogenic
10	102657031	C	T	C102657031T	TRIM8	NM_030912.3(TRIM8):c.1333C>T:p.Gln445Ter	coding	Pathogenic/Likely_pathogenic
10	102657036	T	A	T102657036A	TRIM8	NM_030912.3(TRIM8):c.1338T>A:p.Tyr446Ter	coding	Pathogenic
10	102657078	T	A	T102657078A	TRIM8	NM_030912.3(TRIM8):c.1380T>A:p.Tyr460Ter	coding	Pathogenic/Likely_pathogenic
10	102657249	C	A	C102657249A	TRIM8	NM_030912.3(TRIM8):c.1551C>A:p.Pro517=	coding	Benign
10	102705379	T	C	T102705379C	ARL3	NM_004311.4(ARL3):c.114A>G:p.Ala38=	coding	Benign
10	102714350	G	A	G102714350A	ARL3	NM_004311.4(ARL3):c.-75C>T	noncoding	Benign
10	102830910	C	T	C102830910T	CYP17A1	NM_000102.4(CYP17A1):c.1319G>A:p.Arg440His	coding	Pathogenic
10	102830923	C	T	C102830923T	CYP17A1	NM_000102.4(CYP17A1):c.1306G>A:p.Gly436Arg	coding	Pathogenic
10	102831208	A	G	A102831208G	CYP17A1	NM_000102.4(CYP17A1):c.1244-223T>C	noncoding	Benign
10	102831213	A	G	A102831213G	CYP17A1	NM_000102.4(CYP17A1):c.1244-228T>C	noncoding	Benign
10	102831395	T	A	T102831395A	CYP17A1	NM_000102.4(CYP17A1):c.1243+113A>T	noncoding	Benign/Likely_benign
10	102831507	C	A	C102831507A	CYP17A1	NM_000102.4(CYP17A1):c.1243+1G>T	noncoding	Pathogenic
10	102831525	G	C	G102831525C	CYP17A1	NM_000102.4(CYP17A1):c.1226C>G:p.Pro409Arg	coding	Pathogenic
10	102831636	G	T	G102831636T	CYP17A1	NM_000102.4(CYP17A1):c.1140-25C>A	noncoding	Benign
10	102831882	G	A	G102831882A	CYP17A1	NM_000102.4(CYP17A1):c.1140-271C>T	noncoding	Benign
10	102832368	G	A	G102832368A	CYP17A1	NM_000102.4(CYP17A1):c.1139+143C>T	noncoding	Benign
10	102832432	G	A	G102832432A	CYP17A1	NM_000102.4(CYP17A1):c.1139+79C>T	noncoding	Benign
10	102832533	G	C	G102832533C	CYP17A1	NM_000102.4(CYP17A1):c.1117C>G:p.His373Asp	coding	Pathogenic/Likely_pathogenic
10	102832533	G	T	G102832533T	CYP17A1	NM_000102.4(CYP17A1):c.1117C>A:p.His373Asn	coding	Pathogenic
10	102832578	G	A	G102832578A	CYP17A1	NM_000102.4(CYP17A1):c.1072C>T:p.Arg358Ter	coding	Pathogenic
10	102832698	T	C	T102832698C	CYP17A1	NM_000102.4(CYP17A1):c.970-18A>G	noncoding	Benign
10	102832918	G	C	G102832918C	CYP17A1	NM_000102.4(CYP17A1):c.969+75C>G	noncoding	Benign
10	102832995	G	A	G102832995A	CYP17A1	NM_000102.4(CYP17A1):c.967C>T:p.Gln323Ter	coding	Pathogenic
10	102833160	G	A	G102833160A	CYP17A1	NM_000102.4(CYP17A1):c.802C>T:p.Gln268Ter	coding	Pathogenic
10	102834098	T	A	T102834098A	CYP17A1	NM_000102.4(CYP17A1):c.691A>T:p.Lys231Ter	coding	Pathogenic
10	102834644	T	A	T102834644A	CYP17A1	NM_000102.4(CYP17A1):c.666+141A>T	noncoding	Benign
10	102834750	A	G	A102834750G	CYP17A1	NM_000102.4(CYP17A1):c.666+35T>C	noncoding	Benign
10	102834848	G	T	G102834848T	CYP17A1	NM_000102.4(CYP17A1):c.603C>A:p.Tyr201Ter	coding	Pathogenic
10	102834871	C	A	C102834871A	CYP17A1	NM_000102.4(CYP17A1):c.580G>T:p.Glu194Ter	coding	Pathogenic
10	102834903	C	T	C102834903T	CYP17A1	NM_000102.4(CYP17A1):c.548G>A:p.Cys183Tyr	coding	Pathogenic
10	102834930	G	T	G102834930T	CYP17A1	NM_000102.4(CYP17A1):c.521C>A:p.Ala174Glu	coding	Pathogenic
10	102835491	G	A	G102835491A	CYP17A1	NM_000102.4(CYP17A1):c.298-99C>T	noncoding	Benign
10	102835663	T	G	T102835663G	CYP17A1	NM_000102.4(CYP17A1):c.298-271A>C	noncoding	Benign
10	102837075	C	T	C102837075T	CYP17A1	NM_000102.4(CYP17A1):c.287G>A:p.Arg96Gln	coding	Pathogenic/Likely_pathogenic
10	102837723	T	C	T102837723C	CYP17A1	Single_allele	noncoding	Benign
10	102918130	A	C	A102918130C	CNNM2	Single_allele	noncoding	Benign
10	102918623	T	C	T102918623C	CNNM2	NM_017649.5(CNNM2):c.143T>C:p.Leu48Pro	coding	Pathogenic
10	102918753	G	T	G102918753T	CNNM2	NM_017649.5(CNNM2):c.273G>T:p.Gly91=	coding	Benign
10	102919075	G	A	G102919075A	CNNM2	NM_017649.5(CNNM2):c.595G>A:p.Ala199Thr	coding	Benign
10	102919422	C	G	C102919422G	CNNM2	NM_017649.5(CNNM2):c.942C>G:p.Tyr314Ter	coding	Pathogenic
10	102919450	G	A	G102919450A	CNNM2	NM_017649.5(CNNM2):c.970G>A:p.Val324Met	coding	Pathogenic
10	102919574	C	T	C102919574T	CNNM2	NM_017649.5(CNNM2):c.1094C>T:p.Ser365Phe	coding	Benign
10	102919627	A	G	A102919627G	CNNM2	NM_017649.5(CNNM2):c.1147A>G:p.Met383Val	coding	Pathogenic
10	102919733	T	C	T102919733C	CNNM2	NM_017649.5(CNNM2):c.1253T>C:p.Leu418Pro	coding	Pathogenic
10	102920221	C	T	C102920221T	CNNM2	NM_017649.5(CNNM2):c.1621+120C>T	noncoding	Benign
10	102920380	T	A	T102920380A	CNNM2	NM_017649.5(CNNM2):c.1621+279T>A	noncoding	Benign
10	102959339	G	A	G102959339A	CNNM2	NM_017649.5(CNNM2):c.1621+39238G>A	noncoding	Benign
10	103054459	A	G	A103054459G	CNNM2	NM_017649.5(CNNM2):c.1896A>G:p.Leu632=	coding	Benign
10	103054610	T	C	T103054610C	CNNM2	NM_017649.5(CNNM2):c.1903+144T>C	noncoding	Benign
10	103056712	T	C	T103056712C	CNNM2	NM_017649.5(CNNM2):c.1904-83T>C	noncoding	Benign
10	103068741	C	T	C103068741T	CNNM2	NM_017649.5(CNNM2):c.2167+19C>T	noncoding	Benign
10	103071856	C	T	C103071856T	CNNM2	NM_017649.5(CNNM2):c.2233+17C>T	noncoding	Benign
10	103076236	C	T	C103076236T	CNNM2	NM_017649.5(CNNM2):c.2384C>T:p.Ser795Leu	coding	Pathogenic
10	103076241	C	T	C103076241T	CNNM2	NM_017649.5(CNNM2):c.2389C>T:p.Arg797Ter	coding	Pathogenic
10	103076290	T	C	T103076290C	CNNM2	NM_017649.5(CNNM2):c.2418+20T>C	noncoding	Benign
10	103076344	C	A	C103076344A	CNNM2	NM_017649.5(CNNM2):c.2418+74C>A	noncoding	Benign
10	103076754	A	G	A103076754G	CNNM2	NM_017649.5(CNNM2):c.2419-217A>G	noncoding	Benign
10	103089359	G	C	G103089359C	NT5C2	NM_001351169.2(NT5C2):c.*313C>G	noncoding	Benign
10	103090657	A	G	A103090657G	NT5C2	NM_001351169.2(NT5C2):c.1403T>C:p.Leu468Pro	coding	Pathogenic
10	103090811	T	G	T103090811G	NT5C2	NM_001351169.2(NT5C2):c.1273-24A>C	noncoding	Benign
10	103090812	C	T	C103090812T	NT5C2	NM_001351169.2(NT5C2):c.1273-25G>A	noncoding	Benign
10	103090863	A	C	A103090863C	NT5C2	NM_001351169.2(NT5C2):c.1272+73T>G	noncoding	Benign
10	103090875	G	A	G103090875A	NT5C2	NM_001351169.2(NT5C2):c.1272+61C>T	noncoding	Benign
10	103091643	G	A	G103091643A	NT5C2	NM_001351169.2(NT5C2):c.1160-28C>T	noncoding	Benign
10	103093533	A	G	A103093533G	NT5C2	NM_001351169.2(NT5C2):c.989-224T>C	noncoding	Benign
10	103093746	A	T	A103093746T	NT5C2	NM_001351169.2(NT5C2):c.988+226T>A	noncoding	Benign
10	103094330	A	C	A103094330C	NT5C2	NM_001351169.2(NT5C2):c.921+18T>G	noncoding	Benign/Likely_benign
10	103095899	T	C	T103095899C	NT5C2	NM_001351169.2(NT5C2):c.813+40A>G	noncoding	Benign
10	103098998	A	C	A103098998C	NT5C2	NM_001351169.2(NT5C2):c.634-14T>G	noncoding	Benign/Likely_benign
10	103175195	C	T	C103175195T	NT5C2	NM_001351169.2(NT5C2):c.-24-213G>A	noncoding	Benign
10	103181355	A	T	A103181355T	NT5C2	NM_001351169.2(NT5C2):c.-168-27T>A	noncoding	Benign
10	103193337	T	C	T103193337C	NT5C2	Single_allele	noncoding	Benign
10	103882771	G	A	G103882771A	STN1	NM_024928.5(STN1):c.1020C>T:p.Ser340=	coding	Benign
10	103889164	G	A	G103889164A	STN1	NM_024928.5(STN1):c.877-20C>T	noncoding	Benign
10	103897558	G	C	G103897558C	STN1	NM_024928.5(STN1):c.743C>G:p.Ser248Cys	coding	Benign
10	103897605	C	G	C103897605G	STN1	NM_024928.5(STN1):c.696G>C:p.Val232=	coding	Benign
10	103900068	T	C	T103900068C	STN1	NM_024928.5(STN1):c.451A>G:p.Thr151Ala	coding	Benign
10	104032319	A	G	A104032319G	COL17A1	NM_000494.4(COL17A1):c.4439-29T>C	noncoding	Benign
10	104032447	A	C	A104032447C	COL17A1	NM_000494.4(COL17A1):c.4439-157T>G	noncoding	Benign
10	104032746	C	T	C104032746T	COL17A1	NM_000494.4(COL17A1):c.4366G>A:p.Gly1456Ser	coding	Benign
10	104032771	G	A	G104032771A	COL17A1	NM_000494.4(COL17A1):c.4358-17C>T	noncoding	Benign
10	104032807	G	A	G104032807A	COL17A1	NM_000494.4(COL17A1):c.4358-53C>T	noncoding	Benign
10	104032997	G	A	G104032997A	COL17A1	NM_000494.4(COL17A1):c.4295-29C>T	noncoding	Benign
10	104033415	T	G	T104033415G	COL17A1	NM_000494.4(COL17A1):c.4157-40A>C	noncoding	Benign
10	104033608	T	C	T104033608C	COL17A1	NM_000494.4(COL17A1):c.4157-233A>G	noncoding	Benign
10	104033611	G	A	G104033611A	COL17A1	NM_000494.4(COL17A1):c.4157-236C>T	noncoding	Benign
10	104033645	C	T	C104033645T	COL17A1	NM_000494.4(COL17A1):c.4157-270G>A	noncoding	Benign
10	104033701	C	T	C104033701T	COL17A1	NM_000494.4(COL17A1):c.4156+244G>A	noncoding	Benign
10	104033829	C	A	C104033829A	COL17A1	NM_000494.4(COL17A1):c.4156+116G>T	noncoding	Benign
10	104033944	C	T	C104033944T	COL17A1	NM_000494.4(COL17A1):c.4156+1G>A	noncoding	Pathogenic
10	104034060	A	C	A104034060C	COL17A1	NM_000494.4(COL17A1):c.4041T>G:p.Tyr1347Ter	coding	Pathogenic
10	104034620	C	G	C104034620G	COL17A1	NM_000494.4(COL17A1):c.3766+1G>C	noncoding	Pathogenic
10	104034620	C	T	C104034620T	COL17A1	NM_000494.4(COL17A1):c.3766+1G>A	noncoding	Pathogenic
10	104034789	A	C	A104034789C	COL17A1	NM_000494.4(COL17A1):c.3620-22T>G	noncoding	Benign
10	104035030	C	G	C104035030G	COL17A1	NM_000494.4(COL17A1):c.3619+233G>C	noncoding	Benign
10	104035097	C	T	C104035097T	COL17A1	NM_000494.4(COL17A1):c.3619+166G>A	noncoding	Benign
10	104035643	G	A	G104035643A	COL17A1	NM_000494.4(COL17A1):c.3419-80C>T	noncoding	Benign
10	104035780	G	C	G104035780C	COL17A1	NM_000494.4(COL17A1):c.3419-217C>G	noncoding	Benign
10	104036507	G	A	G104036507A	COL17A1	NM_000494.4(COL17A1):c.3403C>T:p.Leu1135Phe	coding	Benign
10	104036691	A	G	A104036691G	COL17A1	NM_000494.4(COL17A1):c.3278-59T>C	noncoding	Benign
10	104036838	G	T	G104036838T	COL17A1	NM_000494.4(COL17A1):c.3278-206C>A	noncoding	Benign
10	104036980	A	C	A104036980C	COL17A1	NM_000494.4(COL17A1):c.3277+65T>G	noncoding	Benign
10	104037417	C	A	C104037417A	COL17A1	NM_000494.4(COL17A1):c.3208+219G>T	noncoding	Benign
10	104037782	C	G	C104037782G	COL17A1	NM_000494.4(COL17A1):c.3071-9G>C	noncoding	Benign
10	104037832	C	T	C104037832T	COL17A1	NM_000494.4(COL17A1):c.3071-59G>A	noncoding	Benign
10	104038216	A	G	A104038216G	COL17A1	NM_000494.4(COL17A1):c.3070+190T>C	noncoding	Benign
10	104038337	C	A	C104038337A	COL17A1	NM_000494.4(COL17A1):c.3070+69G>T	noncoding	Benign
10	104038388	C	T	C104038388T	COL17A1	NM_000494.4(COL17A1):c.3070+18G>A	noncoding	Benign
10	104038425	G	A	G104038425A	COL17A1	NM_000494.4(COL17A1):c.3051C>T:p.Tyr1017=	coding	Benign
10	104038446	A	C	A104038446C	COL17A1	NM_000494.4(COL17A1):c.3030T>G:p.Ser1010=	coding	Benign
10	104038843	C	T	C104038843T	COL17A1	NM_000494.4(COL17A1):c.2947+228G>A	noncoding	Benign
10	104039054	T	C	T104039054C	COL17A1	NM_000494.4(COL17A1):c.2947+17A>G	noncoding	Benign
10	104039796	G	A	G104039796A	COL17A1	NM_000494.4(COL17A1):c.2789-156C>T	noncoding	Benign
10	104039841	C	A	C104039841A	COL17A1	NM_000494.4(COL17A1):c.2788+132G>T	noncoding	Benign
10	104040374	G	A	G104040374A	COL17A1	NM_000494.4(COL17A1):c.2738C>T:p.Pro913Leu	coding	Benign
10	104040563	C	T	C104040563T	COL17A1	NM_000494.4(COL17A1):c.2702-153G>A	noncoding	Benign
10	104040756	C	T	C104040756T	COL17A1	NM_000494.4(COL17A1):c.2701+309G>A	noncoding	Benign
10	104041016	G	A	G104041016A	COL17A1	NM_000494.4(COL17A1):c.2701+49C>T	noncoding	Benign
10	104041135	C	T	C104041135T	COL17A1	NM_000494.4(COL17A1):c.2648-17G>A	noncoding	Benign
10	104041196	G	T	G104041196T	COL17A1	NM_000494.4(COL17A1):c.2648-78C>A	noncoding	Benign
10	104041494	C	T	C104041494T	COL17A1	NM_000494.4(COL17A1):c.2596G>A:p.Gly866Arg	coding	Pathogenic
10	104041616	A	T	A104041616T	COL17A1	NM_000494.4(COL17A1):c.2552-78T>A	noncoding	Benign
10	104042230	A	C	A104042230C	COL17A1	NM_000494.4(COL17A1):c.2551+190T>G	noncoding	Benign
10	104043322	A	G	A104043322G	COL17A1	NM_000494.4(COL17A1):c.2515+179T>C	noncoding	Benign
10	104043398	G	T	G104043398T	COL17A1	NM_000494.4(COL17A1):c.2515+103C>A	noncoding	Benign
10	104043754	G	A	G104043754A	COL17A1	NM_000494.4(COL17A1):c.2434+71C>T	noncoding	Benign
10	104045497	T	C	T104045497C	COL17A1	NM_000494.4(COL17A1):c.2398+261A>G	noncoding	Benign
10	104045552	G	A	G104045552A	COL17A1	NM_000494.4(COL17A1):c.2398+206C>T	noncoding	Benign
10	104045570	G	A	G104045570A	COL17A1	NM_000494.4(COL17A1):c.2398+188C>T	noncoding	Benign
10	104045678	G	A	G104045678A	COL17A1	NM_000494.4(COL17A1):c.2398+80C>T	noncoding	Benign
10	104046552	C	A	C104046552A	COL17A1	NM_000494.4(COL17A1):c.2362+195G>T	noncoding	Benign
10	104047554	G	A	G104047554A	COL17A1	NM_000494.4(COL17A1):c.2335+185C>T	noncoding	Benign
10	104047657	A	G	A104047657G	COL17A1	NM_000494.4(COL17A1):c.2335+82T>C	noncoding	Benign
10	104047718	T	C	T104047718C	COL17A1	NM_000494.4(COL17A1):c.2335+21A>G	noncoding	Benign
10	104049468	T	C	T104049468C	COL17A1	NM_000494.4(COL17A1):c.2168A>G:p.Glu723Gly	coding	Benign
10	104049667	A	G	A104049667G	COL17A1	NM_000494.4(COL17A1):c.2165-196T>C	noncoding	Benign
10	104049913	T	C	T104049913C	COL17A1	NM_000494.4(COL17A1):c.2164+176A>G	noncoding	Benign
10	104051121	C	A	C104051121A	COL17A1	NM_000494.4(COL17A1):c.2039-220G>T	noncoding	Benign
10	104051910	G	A	G104051910A	COL17A1	NM_000494.4(COL17A1):c.2002+245C>T	noncoding	Benign
10	104052153	A	C	A104052153C	COL17A1	NM_000494.4(COL17A1):c.2002+2T>G	noncoding	Pathogenic
10	104052932	G	C	G104052932C	COL17A1	NM_000494.4(COL17A1):c.1939+99C>G	noncoding	Benign
10	104053030	C	G	C104053030G	COL17A1	NM_000494.4(COL17A1):c.1939+1G>C	noncoding	Pathogenic
10	104053097	G	A	G104053097A	COL17A1	NM_000494.4(COL17A1):c.1873C>T:p.Arg625Ter	coding	Pathogenic
10	104053243	C	T	C104053243T	COL17A1	NM_000494.4(COL17A1):c.1835-108G>A	noncoding	Benign
10	104053735	C	T	C104053735T	COL17A1	NM_000494.4(COL17A1):c.1834+185G>A	noncoding	Benign
10	104054228	A	G	A104054228G	COL17A1	NM_000494.4(COL17A1):c.1745-110T>C	noncoding	Benign
10	104054313	G	C	G104054313C	COL17A1	NM_000494.4(COL17A1):c.1745-195C>G	noncoding	Benign
10	104054381	C	T	C104054381T	COL17A1	NM_000494.4(COL17A1):c.1745-263G>A	noncoding	Benign
10	104054701	A	C	A104054701C	COL17A1	NM_000494.4(COL17A1):c.1744+280T>G	noncoding	Benign
10	104055023	T	A	T104055023A	COL17A1	NM_000494.4(COL17A1):c.1718-16A>T	noncoding	Benign
10	104055068	C	A	C104055068A	COL17A1	NM_000494.4(COL17A1):c.1718-61G>T	noncoding	Benign
10	104055179	C	T	C104055179T	COL17A1	NM_000494.4(COL17A1):c.1718-172G>A	noncoding	Benign
10	104055446	A	T	A104055446T	COL17A1	NM_000494.4(COL17A1):c.1688-45T>A	noncoding	Benign
10	104055483	A	C	A104055483C	COL17A1	NM_000494.4(COL17A1):c.1688-82T>G	noncoding	Benign
10	104055566	A	G	A104055566G	COL17A1	NM_000494.4(COL17A1):c.1688-165T>C	noncoding	Benign
10	104055696	G	A	G104055696A	COL17A1	NM_000494.4(COL17A1):c.1687+86C>T	noncoding	Benign
10	104056065	G	T	G104056065T	COL17A1	NM_000494.4(COL17A1):c.1466-62C>A	noncoding	Benign
10	104056235	G	A	G104056235A	COL17A1	NM_000494.4(COL17A1):c.1466-232C>T	noncoding	Benign
10	104056308	C	T	C104056308T	COL17A1	NM_000494.4(COL17A1):c.1466-305G>A	noncoding	Benign
10	104056865	C	T	C104056865T	COL17A1	NM_000494.4(COL17A1):c.1465+110G>A	noncoding	Benign
10	104056927	T	C	T104056927C	COL17A1	NM_000494.4(COL17A1):c.1465+48A>G	noncoding	Benign
10	104056989	C	T	C104056989T	COL17A1	NM_000494.4(COL17A1):c.1451G>A:p.Gly484Asp	coding	Benign
10	104057250	A	G	A104057250G	COL17A1	NM_000494.4(COL17A1):c.1268-78T>C	noncoding	Benign
10	104057285	C	T	C104057285T	COL17A1	NM_000494.4(COL17A1):c.1268-113G>A	noncoding	Benign
10	104058156	G	A	G104058156A	COL17A1	NM_000494.4(COL17A1):c.1257C>T:p.Thr419=	coding	Benign
10	104059440	A	G	A104059440G	COL17A1	NM_000494.4(COL17A1):c.1222+198T>C	noncoding	Benign
10	104060221	G	A	G104060221A	COL17A1	NM_000494.4(COL17A1):c.1039C>T:p.Leu347=	coding	Benign
10	104061378	A	C	A104061378C	COL17A1	NM_000494.4(COL17A1):c.979+27T>G	noncoding	Benign
10	104061378	A	T	A104061378T	COL17A1	NM_000494.4(COL17A1):c.979+27T>A	noncoding	Benign
10	104061536	A	G	A104061536G	COL17A1	NM_000494.4(COL17A1):c.911-63T>C	noncoding	Benign
10	104061539	A	G	A104061539G	COL17A1	NM_000494.4(COL17A1):c.911-66T>C	noncoding	Benign
10	104061779	T	C	T104061779C	COL17A1	NM_000494.4(COL17A1):c.911-306A>G	noncoding	Benign
10	104062078	C	T	C104062078T	COL17A1	NM_000494.4(COL17A1):c.910+180G>A	noncoding	Benign
10	104062510	A	C	A104062510C	COL17A1	NM_000494.4(COL17A1):c.839-181T>G	noncoding	Benign
10	104063454	T	G	T104063454G	COL17A1	NM_000494.4(COL17A1):c.838+293A>C	noncoding	Benign
10	104064587	G	T	G104064587T	COL17A1	NM_000494.4(COL17A1):c.617C>A:p.Thr206Asn	coding	Benign
10	104064588	T	C	T104064588C	COL17A1	NM_000494.4(COL17A1):c.616A>G:p.Thr206Ala	coding	Benign
10	104070528	G	A	G104070528A	COL17A1	NM_000494.4(COL17A1):c.505C>T:p.Arg169Ter	coding	Pathogenic
10	104070828	A	T	A104070828T	COL17A1	NM_000494.4(COL17A1):c.464-259T>A	noncoding	Benign
10	104072164	C	A	C104072164A	COL17A1	NM_000494.4(COL17A1):c.416-85G>T	noncoding	Benign
10	104072166	C	A	C104072166A	COL17A1	NM_000494.4(COL17A1):c.416-87G>T	noncoding	Benign
10	104072224	A	C	A104072224C	COL17A1	NM_000494.4(COL17A1):c.416-145T>G	noncoding	Benign
10	104077242	A	G	A104077242G	COL17A1	NM_000494.4(COL17A1):c.202+180T>C	noncoding	Benign
10	104080361	C	G	C104080361G	COL17A1	NM_000494.4(COL17A1):c.52+261G>C	noncoding	Benign
10	104133710	C	T	C104133710T	CFAP43	NM_025145.7(CFAP43):c.4506G>A:p.Trp1502Ter	coding	Pathogenic
10	104168777	C	T	C104168777T	CFAP43	NM_025145.7(CFAP43):c.2658G>A:p.Trp886Ter	coding	Pathogenic
10	104399381	C	T	C104399381T	CFAP58	NM_001008723.2(CFAP58):c.1696C>T:p.Gln566Ter	coding	Pathogenic
10	104403781	C	T	C104403781T	CFAP58	NM_001008723.2(CFAP58):c.2092C>T:p.Arg698Ter	coding	Pathogenic
10	104447715	C	A	C104447715A	CFAP58	NM_001008723.2(CFAP58):c.2274C>A:p.Tyr758Ter	coding	Pathogenic
10	110118752	T	G	T110118752G	ADD3	NM_016824.5(ADD3):c.717+16T>G	noncoding	Benign
10	110573688	A	G	A110573688G	SMC3	NM_005445.4(SMC3):c.92-19A>G	noncoding	Benign/Likely_benign
10	110573933	T	G	T110573933G	SMC3	NM_005445.4(SMC3):c.130+188T>G	noncoding	Benign
10	110573938	G	A	G110573938A	SMC3	NM_005445.4(SMC3):c.130+193G>A	noncoding	Benign
10	110577216	A	G	A110577216G	SMC3	NM_005445.4(SMC3):c.199-205A>G	noncoding	Benign
10	110578529	T	G	T110578529G	SMC3	NM_005445.4(SMC3):c.351-99T>G	noncoding	Benign
10	110581113	A	G	A110581113G	SMC3	NM_005445.4(SMC3):c.547+92A>G	noncoding	Benign
10	110581777	T	G	T110581777G	SMC3	NM_005445.4(SMC3):c.548-146T>G	noncoding	Benign
10	110582279	A	G	A110582279G	SMC3	NM_005445.4(SMC3):c.723+181A>G	noncoding	Benign
10	110582286	A	G	A110582286G	SMC3	NM_005445.4(SMC3):c.723+188A>G	noncoding	Benign
10	110583358	A	G	A110583358G	SMC3	NM_005445.4(SMC3):c.805-26A>G	noncoding	Benign
10	110583571	A	G	A110583571G	SMC3	NM_005445.4(SMC3):c.969+23A>G	noncoding	Benign
10	110589302	T	C	T110589302C	SMC3	NM_005445.4(SMC3):c.1306-303T>C	noncoding	Benign
10	110589349	G	A	G110589349A	SMC3	NM_005445.4(SMC3):c.1306-256G>A	noncoding	Benign
10	110590121	A	G	A110590121G	SMC3	NM_005445.4(SMC3):c.1509+130A>G	noncoding	Benign
10	110590234	A	G	A110590234G	SMC3	NM_005445.4(SMC3):c.1510-178A>G	noncoding	Benign
10	110590756	T	C	T110590756C	SMC3	NM_005445.4(SMC3):c.1670+184T>C	noncoding	Benign
10	110592947	C	T	C110592947T	SMC3	NM_005445.4(SMC3):c.1813-126C>T	noncoding	Benign
10	110596478	G	A	G110596478A	SMC3	NM_005445.4(SMC3):c.2044G>A:p.Val682Ile	coding	Pathogenic
10	110596795	G	A	G110596795A	SMC3	NM_005445.4(SMC3):c.2116+245G>A	noncoding	Benign
10	110598568	G	A	G110598568A	SMC3	NM_005445.4(SMC3):c.2268+278G>A	noncoding	Benign
10	110599889	G	A	G110599889A	SMC3	NM_005445.4(SMC3):c.2427+77G>A	noncoding	Benign
10	110600347	A	G	A110600347G	SMC3	NM_005445.4(SMC3):c.2428-92A>G	noncoding	Benign
10	110600360	C	T	C110600360T	SMC3	NM_005445.4(SMC3):c.2428-79C>T	noncoding	Benign
10	110602312	A	G	A110602312G	SMC3	NM_005445.4(SMC3):c.3105+134A>G	noncoding	Benign
10	110603341	G	A	G110603341A	SMC3	NM_005445.4(SMC3):c.3582+51G>A	noncoding	Benign
10	110644335	C	T	C110644335T	RBM20	Single_allele	noncoding	Benign
10	110644568	G	T	G110644568T	RBM20	NM_001134363.3(RBM20):c.114G>T:p.Pro38=	coding	Benign/Likely_benign
10	110644607	G	T	G110644607T	RBM20	NM_001134363.3(RBM20):c.153G>T:p.Pro51=	coding	Benign/Likely_benign
10	110644640	C	A	C110644640A	RBM20	NM_001134363.3(RBM20):c.186C>A:p.Ile62=	coding	Benign/Likely_benign
10	110780770	G	A	G110780770A	RBM20	NM_001134363.3(RBM20):c.192-31G>A	noncoding	Benign
10	110781050	C	T	C110781050T	RBM20	NM_001134363.3(RBM20):c.441C>T:p.His147=	coding	Benign/Likely_benign
10	110781131	C	A	C110781131A	RBM20	NM_001134363.3(RBM20):c.522C>A:p.Pro174=	coding	Benign
10	110784107	G	A	G110784107A	RBM20	NM_001134363.3(RBM20):c.1338-234G>A	noncoding	Benign
10	110784586	C	T	C110784586T	RBM20	NM_001134363.3(RBM20):c.1429+154C>T	noncoding	Benign
10	110784813	C	T	C110784813T	RBM20	NM_001134363.3(RBM20):c.1451C>T:p.Thr484Ile	coding	Benign/Likely_benign
10	110784844	C	T	C110784844T	RBM20	NM_001134363.3(RBM20):c.1482C>T:p.Phe494=	coding	Benign/Likely_benign
10	110797492	T	C	T110797492C	RBM20	NM_001134363.3(RBM20):c.1528-16T>C	noncoding	Benign/Likely_benign
10	110797756	C	T	C110797756T	RBM20	NM_001134363.3(RBM20):c.1668+108C>T	noncoding	Benign
10	110800254	C	A	C110800254A	RBM20	NM_001134363.3(RBM20):c.1800+336C>A	noncoding	Benign
10	110812593	C	T	C110812593T	RBM20	NM_001134363.3(RBM20):c.2196C>T:p.Pro732=	coding	Benign/Likely_benign
10	110812629	C	T	C110812629T	RBM20	NM_001134363.3(RBM20):c.2232C>T:p.Asn744=	coding	Benign/Likely_benign
10	110820155	G	A	G110820155A	RBM20	NM_001134363.3(RBM20):c.2634G>A:p.Pro878=	coding	Benign/Likely_benign
10	110821944	C	T	C110821944T	RBM20	NM_001134363.3(RBM20):c.3316+9C>T	noncoding	Benign/Likely_benign
10	110823536	G	A	G110823536A	RBM20	NM_001134363.3(RBM20):c.3373G>A:p.Glu1125Lys	coding	Benign/Likely_benign
10	110823541	G	A	G110823541A	RBM20	NM_001134363.3(RBM20):c.3378G>A:p.Val1126=	coding	Benign/Likely_benign
10	110835954	A	G	A110835954G	RBM20	NM_001134363.3(RBM20):c.3660A>G:p.Pro1220=	coding	Benign/Likely_benign
10	110900537	C	T	C110900537T	BBIP1	NM_001195305.3(BBIP1):c.113-11G>A	noncoding	Benign
10	110919433	C	T	C110919433T	SHOC2	NM_001324336.2(SHOC2):c.-243C>T	noncoding	Benign
10	110919872	G	C	G110919872C	SHOC2	NM_007373.4(SHOC2):c.-235+215G>C	noncoding	Benign
10	110964391	T	C	T110964391C	SHOC2	NM_007373.4(SHOC2):c.33T>C:p.Ser11=	coding	Benign
10	111000566	A	G	A111000566G	SHOC2	NM_007373.4(SHOC2):c.972+21A>G	noncoding	Benign
10	111004583	T	C	T111004583C	SHOC2	NM_007373.4(SHOC2):c.973-23T>C	noncoding	Benign
10	111007608	G	T	G111007608T	SHOC2	NM_007373.4(SHOC2):c.1239G>T:p.Gln413His	coding	Benign/Likely_benign
10	111009860	A	T	A111009860T	SHOC2	NM_007373.4(SHOC2):c.1540+30A>T	noncoding	Benign
10	111011580	T	A	T111011580A	SHOC2	NM_007373.4(SHOC2):c.1541-30T>A	noncoding	Benign
10	112180571	T	C	T112180571C	GPAM	NM_001244949.2(GPAM):c.127A>G:p.Ile43Val	coding	Benign
10	112950166	C	T	C112950166T	TCF7L2	Single_allele	noncoding	Benign
10	112950260	G	T	G112950260T	TCF7L2	NM_001367943.1(TCF7L2):c.-497G>T	noncoding	Benign
10	112951635	C	A	C112951635A	TCF7L2	NM_001367943.1(TCF7L2):c.381+28C>A	noncoding	Benign
10	112951918	C	T	C112951918T	TCF7L2	NM_001367943.1(TCF7L2):c.381+311C>T	noncoding	Benign
10	112964714	A	G	A112964714G	TCF7L2	NM_001367943.1(TCF7L2):c.450+90A>G	noncoding	Benign
10	112964739	A	G	A112964739G	TCF7L2	NM_001367943.1(TCF7L2):c.450+115A>G	noncoding	Benign
10	112964778	A	G	A112964778G	TCF7L2	NM_001367943.1(TCF7L2):c.450+154A>G	noncoding	Benign
10	113014167	C	T	C113014167T	TCF7L2	NM_001367943.1(TCF7L2):c.451-25858C>T	noncoding	Benign
10	113014168	A	G	A113014168G	TCF7L2	NM_001367943.1(TCF7L2):c.451-25857A>G	noncoding	Benign
10	113017637	C	T	C113017637T	TCF7L2	NM_001367943.1(TCF7L2):c.451-22388C>T	noncoding	Benign
10	113017898	G	A	G113017898A	TCF7L2	NM_001367943.1(TCF7L2):c.451-22127G>A	noncoding	Benign
10	113017911	C	T	C113017911T	TCF7L2	NM_001367943.1(TCF7L2):c.451-22114C>T	noncoding	Benign
10	113017965	A	G	A113017965G	TCF7L2	NM_001367943.1(TCF7L2):c.451-22060A>G	noncoding	Benign
10	113089594	C	T	C113089594T	TCF7L2	NM_001367943.1(TCF7L2):c.552+49468C>T	noncoding	Benign
10	113089640	C	T	C113089640T	TCF7L2	NM_001367943.1(TCF7L2):c.552+49514C>T	noncoding	Benign
10	113140868	T	C	T113140868C	TCF7L2	NM_001367943.1(TCF7L2):c.553-316T>C	noncoding	Benign
10	113141442	G	T	G113141442T	TCF7L2	NM_001367943.1(TCF7L2):c.685+126G>T	noncoding	Benign
10	113144277	G	A	G113144277A	TCF7L2	NM_001367943.1(TCF7L2):c.788+252G>A	noncoding	Benign
10	113150691	C	T	C113150691T	TCF7L2	NM_001367943.1(TCF7L2):c.876-307C>T	noncoding	Benign
10	113151320	T	C	T113151320C	TCF7L2	NM_001367943.1(TCF7L2):c.1001+197T>C	noncoding	Benign
10	113152775	C	T	C113152775T	TCF7L2	NM_001367943.1(TCF7L2):c.1269+335C>T	noncoding	Benign
10	113159723	A	G	A113159723G	TCF7L2	NM_001367943.1(TCF7L2):c.1370-197A>G	noncoding	Benign
10	113160330	A	G	A113160330G	TCF7L2	NM_001367943.1(TCF7L2):c.1442+338A>G	noncoding	Benign
10	113161762	C	T	C113161762T	TCF7L2	NM_001367943.1(TCF7L2):c.1442+1770C>T	noncoding	Benign
10	113161902	G	T	G113161902T	TCF7L2	NM_001367943.1(TCF7L2):c.1442+1910G>T	noncoding	Benign
10	113165610	C	A	C113165610A	TCF7L2	NM_001367943.1(TCF7L2):c.1498C>A:p.Pro500Thr	coding	Benign
10	113165999	T	C	T113165999C	TCF7L2	NM_001367943.1(TCF7L2):c.*27T>C	noncoding	Benign
10	113552847	G	A	G113552847A	HABP2	NM_001177660.3(HABP2):c.-10+1886G>A	noncoding	Benign
10	113553052	T	C	T113553052C	HABP2	NM_004132.4(HABP2):c.-70T>C	noncoding	Benign/Likely_benign
10	113567180	C	A	C113567180A	HABP2	NM_004132.5(HABP2):c.70-309C>A	noncoding	Benign
10	113567186	G	A	G113567186A	HABP2	NM_004132.5(HABP2):c.70-303G>A	noncoding	Benign
10	113567191	C	G	C113567191G	HABP2	NM_004132.5(HABP2):c.70-298C>G	noncoding	Benign
10	113567281	A	G	A113567281G	HABP2	NM_004132.5(HABP2):c.70-208A>G	noncoding	Benign
10	113567289	C	G	C113567289G	HABP2	NM_004132.5(HABP2):c.70-200C>G	noncoding	Benign
10	113567312	G	A	G113567312A	HABP2	NM_004132.5(HABP2):c.70-177G>A	noncoding	Benign
10	113567325	A	G	A113567325G	HABP2	NM_004132.5(HABP2):c.70-164A>G	noncoding	Benign
10	113567434	A	G	A113567434G	HABP2	NM_004132.5(HABP2):c.70-55A>G	noncoding	Benign
10	113567640	A	G	A113567640G	HABP2	NM_004132.5(HABP2):c.106+115A>G	noncoding	Benign
10	113567726	T	C	T113567726C	HABP2	NM_004132.5(HABP2):c.106+201T>C	noncoding	Benign
10	113567728	A	C	A113567728C	HABP2	NM_004132.5(HABP2):c.106+203A>C	noncoding	Benign
10	113567730	G	A	G113567730A	HABP2	NM_004132.5(HABP2):c.106+205G>A	noncoding	Benign
10	113567768	G	A	G113567768A	HABP2	NM_004132.5(HABP2):c.106+243G>A	noncoding	Benign
10	113567771	C	G	C113567771G	HABP2	NM_004132.5(HABP2):c.106+246C>G	noncoding	Benign
10	113573992	T	A	T113573992A	HABP2	NM_004132.5(HABP2):c.107-297T>A	noncoding	Benign
10	113574547	T	C	T113574547C	HABP2	NM_004132.5(HABP2):c.223+142T>C	noncoding	Benign
10	113575664	G	T	G113575664T	HABP2	NM_004132.5(HABP2):c.224-233G>T	noncoding	Benign
10	113575781	C	T	C113575781T	HABP2	NM_004132.5(HABP2):c.224-116C>T	noncoding	Benign
10	113576084	A	G	A113576084G	HABP2	NM_004132.5(HABP2):c.331+80A>G	noncoding	Benign
10	113576224	T	C	T113576224C	HABP2	NM_004132.5(HABP2):c.331+220T>C	noncoding	Benign
10	113576999	A	C	A113576999C	HABP2	NM_004132.5(HABP2):c.332-151A>C	noncoding	Benign
10	113577582	T	C	T113577582C	HABP2	NM_004132.5(HABP2):c.448+316T>C	noncoding	Benign
10	113577779	C	G	C113577779G	HABP2	NM_004132.5(HABP2):c.449-247C>G	noncoding	Benign
10	113577926	A	T	A113577926T	HABP2	NM_004132.5(HABP2):c.449-100A>T	noncoding	Benign
10	113578546	T	C	T113578546C	HABP2	NM_004132.5(HABP2):c.569-81T>C	noncoding	Benign
10	113578856	A	G	A113578856G	HABP2	NM_004132.5(HABP2):c.740+58A>G	noncoding	Benign
10	113579029	G	A	G113579029A	HABP2	NM_004132.5(HABP2):c.740+231G>A	noncoding	Benign
10	113580733	G	A	G113580733A	HABP2	NM_004132.5(HABP2):c.838+41G>A	noncoding	Benign
10	113580839	C	T	C113580839T	HABP2	NM_004132.5(HABP2):c.838+147C>T	noncoding	Benign
10	113581786	G	C	G113581786C	HABP2	NM_004132.5(HABP2):c.839-90G>C	noncoding	Benign
10	113583528	C	T	C113583528T	HABP2	NM_004132.5(HABP2):c.1237+170C>T	noncoding	Benign
10	113583827	C	T	C113583827T	HABP2	NM_004132.5(HABP2):c.1238-321C>T	noncoding	Benign
10	113583941	G	A	G113583941A	HABP2	NM_004132.5(HABP2):c.1238-207G>A	noncoding	Benign
10	113584044	C	T	C113584044T	HABP2	NM_004132.5(HABP2):c.1238-104C>T	noncoding	Benign
10	113584072	A	T	A113584072T	HABP2	NM_004132.5(HABP2):c.1238-76A>T	noncoding	Benign
10	113584093	C	G	C113584093G	HABP2	NM_004132.5(HABP2):c.1238-55C>G	noncoding	Benign
10	113584596	A	G	A113584596G	HABP2	NM_004132.5(HABP2):c.1372+314A>G	noncoding	Benign
10	113585532	C	T	C113585532T	HABP2	NM_004132.5(HABP2):c.1373-261C>T	noncoding	Benign
10	113586091	T	C	T113586091C	HABP2	NM_004132.5(HABP2):c.1518+153T>C	noncoding	Benign
10	113587889	C	A	C113587889A	HABP2	NM_004132.5(HABP2):c.1519-316C>A	noncoding	Benign
10	113588129	C	A	C113588129A	HABP2	NM_004132.5(HABP2):c.1519-76C>A	noncoding	Benign
10	113590384	G	A	G113590384A	NRAP	NM_198060.4(NRAP):c.4956+194C>T	noncoding	Benign
10	113590629	C	T	C113590629T	NRAP	NM_198060.4(NRAP):c.4905G>A:p.Pro1635=	coding	Benign
10	113591041	T	C	T113591041C	NRAP	NM_198060.4(NRAP):c.4645-152A>G	noncoding	Benign
10	113592246	A	G	A113592246G	NRAP	NM_198060.4(NRAP):c.4592T>C:p.Leu1531Pro	coding	Benign
10	113592408	C	T	C113592408T	NRAP	NM_198060.4(NRAP):c.4537-107G>A	noncoding	Benign
10	113592504	C	T	C113592504T	NRAP	NM_198060.4(NRAP):c.4537-203G>A	noncoding	Benign
10	113595436	A	G	A113595436G	NRAP	NM_198060.4(NRAP):c.4536+187T>C	noncoding	Benign
10	113595569	A	G	A113595569G	NRAP	NM_198060.4(NRAP):c.4536+54T>C	noncoding	Benign
10	113596917	A	C	A113596917C	NRAP	NM_198060.4(NRAP):c.4431+169T>G	noncoding	Benign
10	113597319	G	A	G113597319A	NRAP	NM_198060.4(NRAP):c.4333-135C>T	noncoding	Benign
10	113610495	A	G	A113610495G	NRAP	NM_198060.4(NRAP):c.3567T>C:p.Ile1189=	coding	Benign
10	113610515	T	C	T113610515C	NRAP	NM_198060.4(NRAP):c.3547A>G:p.Ile1183Val	coding	Benign
10	113612114	G	T	G113612114T	NRAP	NM_198060.4(NRAP):c.3498+120C>A	noncoding	Benign
10	113613999	C	T	C113613999T	NRAP	NM_198060.4(NRAP):c.3300+184G>A	noncoding	Benign
10	113614092	T	C	T113614092C	NRAP	NM_198060.4(NRAP):c.3300+91A>G	noncoding	Benign
10	113614911	A	G	A113614911G	NRAP	NM_198060.4(NRAP):c.3114T>C:p.Asp1038=	coding	Benign
10	113615769	C	A	C113615769A	NRAP	NM_198060.4(NRAP):c.3021G>T:p.Pro1007=	coding	Benign
10	113617531	T	C	T113617531C	NRAP	NM_198060.4(NRAP):c.2897A>G:p.Asp966Gly	coding	Benign
10	113617744	A	C	A113617744C	NRAP	NM_198060.4(NRAP):c.2875-191T>G	noncoding	Benign
10	113620552	C	T	C113620552T	NRAP	NM_198060.4(NRAP):c.2874+52G>A	noncoding	Benign
10	113620849	A	C	A113620849C	NRAP	NM_198060.4(NRAP):c.2770-141T>G	noncoding	Benign
10	113620948	T	C	T113620948C	NRAP	NM_198060.4(NRAP):c.2770-240A>G	noncoding	Benign
10	113621988	G	A	G113621988A	NRAP	NM_198060.4(NRAP):c.2650C>T:p.Arg884Cys	coding	Benign
10	113623387	G	A	G113623387A	NRAP	NM_198060.4(NRAP):c.2457+142C>T	noncoding	Benign
10	113624708	C	A	C113624708A	NRAP	NM_198060.4(NRAP):c.2349+118G>T	noncoding	Benign
10	113625891	C	T	C113625891T	NRAP	NM_198060.4(NRAP):c.2244+156G>A	noncoding	Benign
10	113626217	A	C	A113626217C	NRAP	NM_198060.4(NRAP):c.2146-72T>G	noncoding	Benign
10	113626329	C	G	C113626329G	NRAP	NM_198060.4(NRAP):c.2146-184G>C	noncoding	Benign
10	113628829	A	G	A113628829G	NRAP	NM_198060.4(NRAP):c.2145+88T>C	noncoding	Benign
10	113629185	C	T	C113629185T	NRAP	NM_198060.4(NRAP):c.2041-164G>A	noncoding	Benign
10	113629421	A	C	A113629421C	NRAP	NM_198060.4(NRAP):c.2040+167T>G	noncoding	Benign
10	113629455	C	T	C113629455T	NRAP	NM_198060.4(NRAP):c.2040+133G>A	noncoding	Benign
10	113629508	G	A	G113629508A	NRAP	NM_198060.4(NRAP):c.2040+80C>T	noncoding	Benign
10	113629597	G	A	G113629597A	NRAP	NM_198060.4(NRAP):c.2031C>T:p.Leu677=	coding	Benign
10	113629607	G	A	G113629607A	NRAP	NM_198060.4(NRAP):c.2021C>T:p.Ala674Val	coding	Benign
10	113632925	G	A	G113632925A	NRAP	NM_198060.4(NRAP):c.1632+159C>T	noncoding	Benign
10	113632930	A	C	A113632930C	NRAP	NM_198060.4(NRAP):c.1632+154T>G	noncoding	Benign
10	113633160	T	A	T113633160A	NRAP	NM_198060.4(NRAP):c.1556A>T:p.Asn519Ile	coding	Benign
10	113634170	G	A	G113634170A	NRAP	NM_198060.4(NRAP):c.1469C>T:p.Ser490Leu	coding	Benign
10	113634189	C	T	C113634189T	NRAP	NM_198060.4(NRAP):c.1450G>A:p.Asp484Asn	coding	Benign
10	113640505	C	A	C113640505A	NRAP	NM_198060.4(NRAP):c.1324-174G>T	noncoding	Benign
10	113641123	T	C	T113641123C	NRAP	NM_198060.4(NRAP):c.1323+242A>G	noncoding	Benign
10	113641199	C	T	C113641199T	NRAP	NM_198060.4(NRAP):c.1323+166G>A	noncoding	Benign
10	113641213	G	A	G113641213A	NRAP	NM_198060.4(NRAP):c.1323+152C>T	noncoding	Benign
10	113641322	T	C	T113641322C	NRAP	NM_198060.4(NRAP):c.1323+43A>G	noncoding	Benign
10	113641505	A	G	A113641505G	NRAP	NM_198060.4(NRAP):c.1216-33T>C	noncoding	Benign
10	113641606	A	G	A113641606G	NRAP	NM_198060.4(NRAP):c.1216-134T>C	noncoding	Benign
10	113641708	G	A	G113641708A	NRAP	NM_198060.4(NRAP):c.1216-236C>T	noncoding	Benign
10	113642856	T	A	T113642856A	NRAP	NM_198060.4(NRAP):c.1215+78A>T	noncoding	Benign
10	113645707	G	A	G113645707A	NRAP	NM_198060.4(NRAP):c.1110+118C>T	noncoding	Benign
10	113645856	T	C	T113645856C	NRAP	NM_198060.4(NRAP):c.1079A>G:p.Gln360Arg	coding	Benign
10	113645905	C	T	C113645905T	NRAP	NM_198060.4(NRAP):c.1030G>A:p.Ala344Thr	coding	Benign
10	113646032	A	T	A113646032T	NRAP	NM_198060.4(NRAP):c.994-91T>A	noncoding	Benign
10	113646179	G	A	G113646179A	NRAP	NM_198060.4(NRAP):c.994-238C>T	noncoding	Benign
10	113646702	A	G	A113646702G	NRAP	NM_198060.4(NRAP):c.993+221T>C	noncoding	Benign
10	113646726	C	T	C113646726T	NRAP	NM_198060.4(NRAP):c.993+197G>A	noncoding	Benign
10	113650081	C	T	C113650081T	NRAP	NM_198060.4(NRAP):c.844G>A:p.Ala282Thr	coding	Benign
10	113650475	T	C	T113650475C	NRAP	NM_198060.4(NRAP):c.746A>G:p.Tyr249Cys	coding	Benign
10	113651839	C	A	C113651839A	NRAP	NM_198060.4(NRAP):c.639G>T:p.Leu213=	coding	Benign
10	113651855	A	G	A113651855G	NRAP	NM_198060.4(NRAP):c.623T>C:p.Val208Ala	coding	Benign
10	113652927	G	A	G113652927A	NRAP	NM_198060.4(NRAP):c.570+8C>T	noncoding	Benign
10	113652928	C	T	C113652928T	NRAP	NM_198060.4(NRAP):c.570+7G>A	noncoding	Benign
10	113653034	A	G	A113653034G	NRAP	NM_198060.4(NRAP):c.471T>C:p.Tyr157=	coding	Benign
10	113653798	A	C	A113653798C	NRAP	NM_198060.4(NRAP):c.465+223T>G	noncoding	Benign
10	113653799	C	T	C113653799T	NRAP	NM_198060.4(NRAP):c.465+222G>A	noncoding	Benign
10	113654241	T	C	T113654241C	NRAP	NM_198060.4(NRAP):c.361-116A>G	noncoding	Benign
10	113657530	G	A	G113657530A	NRAP	NM_198060.4(NRAP):c.300C>T:p.His100=	coding	Benign
10	113662715	A	G	A113662715G	NRAP	NM_198060.4(NRAP):c.219T>C:p.Asn73=	coding	Benign
10	113662902	C	A	C113662902A	NRAP	NM_198060.4(NRAP):c.168-136G>T	noncoding	Benign
10	113663227	G	T	G113663227T	NRAP	NM_198060.4(NRAP):c.167+125C>A	noncoding	Benign
10	113663335	G	C	G113663335C	NRAP	NM_198060.4(NRAP):c.167+17C>G	noncoding	Benign
10	113663576	A	G	A113663576G	NRAP	NM_198060.4(NRAP):c.73-130T>C	noncoding	Benign
10	113663632	C	T	C113663632T	NRAP	NM_198060.4(NRAP):c.72+179G>A	noncoding	Benign
10	113663936	A	C	A113663936C	NRAP	NM_198060.4(NRAP):c.-54T>G	noncoding	Benign
10	113663988	G	A	G113663988A	NRAP	NM_198060.4(NRAP):c.-106C>T	noncoding	Benign
10	113729393	C	G	C113729393G	CASP7	NM_001227.5(CASP7):c.765C>G:p.Asp255Glu	coding	Benign
10	113855020	C	T	C113855020T	NHLRC2	NM_198514.4(NHLRC2):c.148C>T:p.Gln50Ter	coding	Pathogenic
10	113858573	A	T	A113858573T	NHLRC2	NM_198514.4(NHLRC2):c.224A>T:p.Asp75Val	coding	Pathogenic
10	113876617	A	C	A113876617C	NHLRC2	NM_198514.4(NHLRC2):c.428A>C:p.His143Pro	coding	Pathogenic
10	113884354	C	T	C113884354T	NHLRC2	NM_198514.4(NHLRC2):c.1013C>T:p.Pro338Leu	coding	Pathogenic
10	115315665	G	A	G115315665A	ATRNL1	NM_207303.4(ATRNL1):c.2966G>A:p.Ser989Asn	coding	Benign
10	115469284	A	G	A115469284G	ATRNL1	NM_207303.4(ATRNL1):c.3609A>G:p.Thr1203=	coding	Benign
10	116125315	G	A	G116125315A	GFRA1	NM_005264.8(GFRA1):c.676C>T:p.Arg226Ter	coding	Pathogenic
10	116125363	C	A	C116125363A	GFRA1	NM_005264.8(GFRA1):c.628G>T:p.Gly210Ter	coding	Pathogenic
10	116270903	A	T	A116270903T	GFRA1	NM_005264.8(GFRA1):c.253T>A:p.Tyr85Asn	coding	Benign
10	116553753	T	C	T116553753C	PNLIP	NM_000936.4(PNLIP):c.486T>C:p.Asn162=	coding	Benign
10	117133720	A	G	A117133720G	VAX1	NM_001112704.2(VAX1):c.*288T>C	coding	Benign
10	117197516	A	G	A117197516G	KCNK18	NM_181840.1(KCNK18):c.28A>G:p.Arg10Gly	coding	Benign
10	117201263	T	C	T117201263C	KCNK18	NM_181840.1(KCNK18):c.328T>C:p.Cys110Arg	coding	Benign
10	117209835	T	C	T117209835C	KCNK18	NM_181840.1(KCNK18):c.691T>C:p.Ser231Pro	coding	Benign
10	117241444	G	A	G117241444A	SLC18A2	NM_003054.6(SLC18A2):c.-16+224G>A	noncoding	Benign
10	117241640	A	C	A117241640C	SLC18A2	NM_003054.6(SLC18A2):c.-15-39A>C	noncoding	Benign
10	117243797	C	G	C117243797G	SLC18A2	NM_003054.6(SLC18A2):c.122-174C>G	noncoding	Benign
10	117244034	C	T	C117244034T	SLC18A2	NM_003054.6(SLC18A2):c.185C>T:p.Thr62Met	coding	Benign
10	117244053	T	G	T117244053G	SLC18A2	NM_003054.6(SLC18A2):c.204T>G:p.Thr68=	coding	Benign
10	117253983	T	C	T117253983C	SLC18A2	NM_003054.6(SLC18A2):c.524-65T>C	noncoding	Benign
10	117254121	C	T	C117254121T	SLC18A2	NM_003054.6(SLC18A2):c.597C>T:p.Ser199=	coding	Benign
10	117254512	C	T	C117254512T	SLC18A2	NM_003054.6(SLC18A2):c.700+15C>T	noncoding	Benign
10	117254616	T	A	T117254616A	SLC18A2	NM_003054.6(SLC18A2):c.700+119T>A	noncoding	Benign
10	117254677	G	A	G117254677A	SLC18A2	NM_003054.6(SLC18A2):c.700+180G>A	noncoding	Benign
10	117255184	T	C	T117255184C	SLC18A2	NM_003054.6(SLC18A2):c.701-93T>C	noncoding	Benign
10	117255418	C	T	C117255418T	SLC18A2	NM_003054.6(SLC18A2):c.790+52C>T	noncoding	Benign
10	117255420	C	T	C117255420T	SLC18A2	NM_003054.6(SLC18A2):c.790+54C>T	noncoding	Benign
10	117255437	C	A	C117255437A	SLC18A2	NM_003054.6(SLC18A2):c.791-42C>A	noncoding	Benign
10	117266531	G	A	G117266531A	SLC18A2	NM_003054.6(SLC18A2):c.992-202G>A	noncoding	Benign
10	117266890	T	C	T117266890C	SLC18A2	NM_003054.6(SLC18A2):c.1070+79T>C	noncoding	Benign
10	117267055	T	C	T117267055C	SLC18A2	NM_003054.6(SLC18A2):c.1122+20T>C	noncoding	Benign
10	117267612	C	A	C117267612A	SLC18A2	NM_003054.6(SLC18A2):c.1123-61C>A	noncoding	Benign
10	117267648	G	T	G117267648T	SLC18A2	NM_003054.6(SLC18A2):c.1123-25G>T	noncoding	Benign
10	117267747	C	T	C117267747T	SLC18A2	NM_003054.6(SLC18A2):c.1186+11C>T	noncoding	Benign
10	117267900	G	T	G117267900T	SLC18A2	NM_003054.6(SLC18A2):c.1186+164G>T	noncoding	Benign
10	117270004	C	T	C117270004T	SLC18A2	NM_003054.6(SLC18A2):c.1187-67C>T	noncoding	Benign
10	117270233	G	A	G117270233A	SLC18A2	NM_003054.6(SLC18A2):c.1306+43G>A	noncoding	Benign
10	117277114	T	C	T117277114C	SLC18A2	NM_003054.6(SLC18A2):c.1441-48T>C	noncoding	Benign
10	117277498	A	C	A117277498C	SLC18A2	NM_003054.6(SLC18A2):c.*232A>C	noncoding	Benign
10	117341081	G	C	G117341081C	PDZD8	NM_173791.5(PDZD8):c.894C>G:p.Tyr298Ter	coding	Pathogenic
10	117545632	G	T	G117545632T	EMX2	NM_004098.4(EMX2):c.407G>T:p.Gly136Val	coding	Pathogenic
10	119029751	G	C	G119029751C	NANOS1	NM_199461.4(NANOS1):c.-51G>C	noncoding	Benign
10	119029901	C	A	C119029901A	NANOS1	NM_199461.4(NANOS1):c.100C>A:p.Pro34Thr	coding	Benign
10	119141113	C	T	C119141113T	SFXN4	NM_213649.2(SFXN4):c.*129G>A	noncoding	Benign
10	119147691	C	T	C119147691T	SFXN4	NM_213649.2(SFXN4):c.818+84G>A	noncoding	Benign
10	119157757	A	T	A119157757T	SFXN4	NM_213649.2(SFXN4):c.472-24T>A	noncoding	Benign
10	119158055	A	T	A119158055T	SFXN4	NM_213649.2(SFXN4):c.368T>A:p.Leu123Ter	coding	Pathogenic
10	119158104	G	A	G119158104A	SFXN4	NM_213649.2(SFXN4):c.361-42C>T	noncoding	Benign
10	119159667	G	A	G119159667A	SFXN4	NM_213649.2(SFXN4):c.360+61C>T	noncoding	Benign
10	119159734	T	C	T119159734C	SFXN4	NM_213649.2(SFXN4):c.354A>G:p.Ala118=	coding	Benign
10	119162505	T	C	T119162505C	SFXN4	NM_213649.2(SFXN4):c.178-91A>G	noncoding	Benign
10	119162563	T	C	T119162563C	SFXN4	NM_213649.2(SFXN4):c.178-149A>G	noncoding	Benign
10	119169290	C	T	C119169290T	PRDX3	NM_006793.5(PRDX3):c.604G>A:p.Asp202Asn	coding	Pathogenic
10	119169326	C	G	C119169326G	PRDX3	NM_006793.5(PRDX3):c.568G>C:p.Asp190His	coding	Pathogenic
10	119173759	G	C	G119173759C	PRDX3	NM_006793.5(PRDX3):c.425C>G:p.Ala142Gly	coding	Pathogenic
10	119177155	T	C	T119177155C	PRDX3	NM_006793.5(PRDX3):c.37-2A>G	noncoding	Pathogenic
10	119250744	A	G	A119250744G	GRK5	NM_005308.3(GRK5):c.52+42775A>G	noncoding	Benign
10	119651753	G	A	G119651753A	BAG3	NM_004281.4(BAG3):c.78G>A:p.Trp26Ter	coding	Pathogenic
10	119670031	C	T	C119670031T	BAG3	NM_004281.4(BAG3):c.361C>T:p.Arg121Ter	coding	Pathogenic
10	119670064	C	T	C119670064T	BAG3	NM_004281.4(BAG3):c.394C>T:p.Gln132Ter	coding	Pathogenic
10	119670127	C	T	C119670127T	BAG3	NM_004281.4(BAG3):c.457C>T:p.Gln153Ter	coding	Pathogenic
10	119670194	C	T	C119670194T	BAG3	NM_004281.4(BAG3):c.507+17C>T	noncoding	Benign
10	119670250	C	G	C119670250G	BAG3	NM_004281.4(BAG3):c.507+73C>G	noncoding	Benign
10	119670330	A	G	A119670330G	BAG3	NM_004281.4(BAG3):c.507+153A>G	noncoding	Benign
10	119672253	A	G	A119672253G	BAG3	NM_004281.4(BAG3):c.508-2A>G	noncoding	Pathogenic
10	119672345	C	T	C119672345T	BAG3	NM_004281.4(BAG3):c.598C>T:p.Gln200Ter	coding	Pathogenic
10	119672359	G	A	G119672359A	BAG3	NM_004281.4(BAG3):c.612G>A:p.Gly204=	coding	Benign/Likely_benign
10	119672387	C	T	C119672387T	BAG3	NM_004281.4(BAG3):c.640C>T:p.Gln214Ter	coding	Pathogenic
10	119672456	C	T	C119672456T	BAG3	NM_004281.4(BAG3):c.709C>T:p.Gln237Ter	coding	Pathogenic
10	119672498	C	T	C119672498T	BAG3	NM_004281.4(BAG3):c.751C>T:p.Gln251Ter	coding	Pathogenic
10	119672513	G	T	G119672513T	BAG3	NM_004281.4(BAG3):c.766G>T:p.Glu256Ter	coding	Pathogenic
10	119672558	C	T	C119672558T	BAG3	NM_004281.4(BAG3):c.811C>T:p.Gln271Ter	coding	Pathogenic
10	119672568	C	A	C119672568A	BAG3	NM_004281.4(BAG3):c.821C>A:p.Ser274Ter	coding	Pathogenic
10	119672859	G	A	G119672859A	BAG3	NM_004281.4(BAG3):c.909+203G>A	noncoding	Benign
10	119676464	C	T	C119676464T	BAG3	NM_004281.4(BAG3):c.910C>T:p.Gln304Ter	coding	Pathogenic
10	119676518	G	T	G119676518T	BAG3	NM_004281.4(BAG3):c.964G>T:p.Glu322Ter	coding	Pathogenic
10	119676572	C	T	C119676572T	BAG3	NM_004281.4(BAG3):c.1018C>T:p.Gln340Ter	coding	Pathogenic
10	119676641	G	T	G119676641T	BAG3	NM_004281.4(BAG3):c.1087G>T:p.Glu363Ter	coding	Pathogenic
10	119676907	C	A	C119676907A	BAG3	NM_004281.4(BAG3):c.1353C>A:p.Tyr451Ter	coding	Pathogenic
10	119676962	C	T	C119676962T	BAG3	NM_004281.4(BAG3):c.1408C>T:p.Pro470Ser	coding	Pathogenic
10	119827370	A	G	A119827370G	INPP5F	NM_014937.4(INPP5F):c.2989A>G:p.Asn997Asp	coding	Benign
10	120850879	C	G	C120850879G	WDR11	NR_033850.1(WDR11-DT):n.301G>C	noncoding	Benign
10	120851127	T	G	T120851127G	WDR11	NR_033850.1(WDR11-DT):n.53A>C	noncoding	Benign
10	120851134	A	C	A120851134C	WDR11	NR_033850.1(WDR11-DT):n.46T>G	noncoding	Benign
10	120851145	T	C	T120851145C	WDR11	NR_033850.1(WDR11-DT):n.35A>G	noncoding	Benign
10	120851270	A	G	A120851270G	WDR11	Single_allele	noncoding	Benign
10	120851275	T	A	T120851275A	WDR11	Single_allele	noncoding	Benign
10	120851281	C	T	C120851281T	WDR11	Single_allele	noncoding	Benign
10	120851415	G	A	G120851415A	WDR11	NM_018117.12(WDR11):c.-6G>A	noncoding	Benign
10	120851418	G	A	G120851418A	WDR11	NM_018117.12(WDR11):c.-3G>A	noncoding	Benign
10	120851471	G	T	G120851471T	WDR11	NM_018117.12(WDR11):c.51G>T:p.Gly17=	coding	Benign
10	120852260	A	T	A120852260T	WDR11	NM_018117.12(WDR11):c.87-264A>T	noncoding	Benign
10	120852958	G	A	G120852958A	WDR11	NM_018117.12(WDR11):c.198+323G>A	noncoding	Benign
10	120858636	G	C	G120858636C	WDR11	NM_018117.12(WDR11):c.199-7G>C	noncoding	Benign
10	120859049	A	G	A120859049G	WDR11	NM_018117.12(WDR11):c.352+253A>G	noncoding	Benign
10	120859067	A	T	A120859067T	WDR11	NM_018117.12(WDR11):c.352+271A>T	noncoding	Benign
10	120860365	C	T	C120860365T	WDR11	NM_018117.12(WDR11):c.526+83C>T	noncoding	Benign
10	120860418	G	A	G120860418A	WDR11	NM_018117.12(WDR11):c.526+136G>A	noncoding	Benign
10	120862496	T	C	T120862496C	WDR11	NM_018117.12(WDR11):c.527-239T>C	noncoding	Benign
10	120862596	C	A	C120862596A	WDR11	NM_018117.12(WDR11):c.527-139C>A	noncoding	Benign
10	120862609	A	C	A120862609C	WDR11	NM_018117.12(WDR11):c.527-126A>C	noncoding	Benign
10	120864758	T	C	T120864758C	WDR11	NM_018117.12(WDR11):c.714-289T>C	noncoding	Benign
10	120865167	G	A	G120865167A	WDR11	NM_018117.12(WDR11):c.834G>A:p.Thr278=	coding	Benign
10	120865523	A	G	A120865523G	WDR11	NM_018117.12(WDR11):c.880-107A>G	noncoding	Benign
10	120866005	T	C	T120866005C	WDR11	NM_018117.12(WDR11):c.994+261T>C	noncoding	Benign
10	120866526	C	T	C120866526T	WDR11	NM_018117.12(WDR11):c.995-43C>T	noncoding	Benign
10	120867130	C	T	C120867130T	WDR11	NM_018117.12(WDR11):c.1255C>T:p.Gln419Ter	coding	Pathogenic
10	120867441	A	G	A120867441G	WDR11	NM_018117.12(WDR11):c.1294+272A>G	noncoding	Benign
10	120867464	G	A	G120867464A	WDR11	NM_018117.12(WDR11):c.1294+295G>A	noncoding	Benign
10	120871075	A	G	A120871075G	WDR11	NM_018117.12(WDR11):c.1295-95A>G	noncoding	Benign
10	120871555	G	A	G120871555A	WDR11	NM_018117.12(WDR11):c.1471+209G>A	noncoding	Benign
10	120873574	A	T	A120873574T	WDR11	NM_018117.12(WDR11):c.1472-265A>T	noncoding	Benign
10	120873909	C	T	C120873909T	WDR11	NM_018117.12(WDR11):c.1542C>T:p.His514=	coding	Benign
10	120874095	C	G	C120874095G	WDR11	NM_018117.12(WDR11):c.1556+172C>G	noncoding	Benign
10	120878032	T	C	T120878032C	WDR11	NM_018117.12(WDR11):c.1557-321T>C	noncoding	Benign
10	120878065	C	A	C120878065A	WDR11	NM_018117.12(WDR11):c.1557-288C>A	noncoding	Benign
10	120878127	G	A	G120878127A	WDR11	NM_018117.12(WDR11):c.1557-226G>A	noncoding	Benign
10	120878484	G	A	G120878484A	WDR11	NM_018117.12(WDR11):c.1663+25G>A	noncoding	Benign
10	120878561	T	A	T120878561A	WDR11	NM_018117.12(WDR11):c.1663+102T>A	noncoding	Benign
10	120880731	T	A	T120880731A	WDR11	NM_018117.12(WDR11):c.1664-95T>A	noncoding	Benign
10	120880921	A	G	A120880921G	WDR11	NM_018117.12(WDR11):c.1739+20A>G	noncoding	Benign
10	120883438	A	G	A120883438G	WDR11	NM_018117.12(WDR11):c.1740-342A>G	noncoding	Benign
10	120883935	A	C	A120883935C	WDR11	NM_018117.12(WDR11):c.1848+47A>C	noncoding	Benign
10	120884085	C	A	C120884085A	WDR11	NM_018117.12(WDR11):c.1848+197C>A	noncoding	Benign
10	120884187	G	C	G120884187C	WDR11	NM_018117.12(WDR11):c.1848+299G>C	noncoding	Benign
10	120885480	C	G	C120885480G	WDR11	NM_018117.12(WDR11):c.1849-334C>G	noncoding	Benign
10	120885578	G	A	G120885578A	WDR11	NM_018117.12(WDR11):c.1849-236G>A	noncoding	Benign
10	120885864	A	T	A120885864T	WDR11	NM_018117.12(WDR11):c.1899A>T:p.Ala633=	coding	Benign
10	120886133	T	C	T120886133C	WDR11	NM_018117.12(WDR11):c.1973+195T>C	noncoding	Benign
10	120886137	A	G	A120886137G	WDR11	NM_018117.12(WDR11):c.1973+199A>G	noncoding	Benign
10	120886200	G	A	G120886200A	WDR11	NM_018117.12(WDR11):c.1973+262G>A	noncoding	Benign
10	120886391	G	C	G120886391C	WDR11	NM_018117.12(WDR11):c.1974-298G>C	noncoding	Benign
10	120886475	C	G	C120886475G	WDR11	NM_018117.12(WDR11):c.1974-214C>G	noncoding	Benign
10	120886558	G	C	G120886558C	WDR11	NM_018117.12(WDR11):c.1974-131G>C	noncoding	Benign
10	120886601	C	T	C120886601T	WDR11	NM_018117.12(WDR11):c.1974-88C>T	noncoding	Benign
10	120886614	G	A	G120886614A	WDR11	NM_018117.12(WDR11):c.1974-75G>A	noncoding	Benign
10	120886785	T	A	T120886785A	WDR11	NM_018117.12(WDR11):c.2070T>A:p.His690Gln	coding	Pathogenic
10	120886867	A	G	A120886867G	WDR11	NM_018117.12(WDR11):c.2121+31A>G	noncoding	Benign
10	120887054	T	C	T120887054C	WDR11	NM_018117.12(WDR11):c.2121+218T>C	noncoding	Benign
10	120887131	T	C	T120887131C	WDR11	NM_018117.12(WDR11):c.2121+295T>C	noncoding	Benign
10	120888798	T	C	T120888798C	WDR11	NM_018117.12(WDR11):c.2122-280T>C	noncoding	Benign
10	120889521	G	T	G120889521T	WDR11	NM_018117.12(WDR11):c.2228+337G>T	noncoding	Benign
10	120889970	A	G	A120889970G	WDR11	NM_018117.12(WDR11):c.2304A>G:p.Ala768=	coding	Benign
10	120890157	A	C	A120890157C	WDR11	NM_018117.12(WDR11):c.2343+148A>C	noncoding	Benign
10	120890157	A	G	A120890157G	WDR11	NM_018117.12(WDR11):c.2343+148A>G	noncoding	Benign
10	120890158	G	A	G120890158A	WDR11	NM_018117.12(WDR11):c.2343+149G>A	noncoding	Benign
10	120891086	A	G	A120891086G	WDR11	NM_018117.12(WDR11):c.2515+199A>G	noncoding	Benign
10	120891143	A	C	A120891143C	WDR11	NM_018117.12(WDR11):c.2515+256A>C	noncoding	Benign
10	120899978	C	T	C120899978T	WDR11	NM_018117.12(WDR11):c.2516-51C>T	noncoding	Benign
10	120900300	C	T	C120900300T	WDR11	NM_018117.12(WDR11):c.2624+163C>T	noncoding	Benign
10	120900341	G	C	G120900341C	WDR11	NM_018117.12(WDR11):c.2624+204G>C	noncoding	Benign
10	120900407	G	A	G120900407A	WDR11	NM_018117.12(WDR11):c.2624+270G>A	noncoding	Benign
10	120900456	C	T	C120900456T	WDR11	NM_018117.12(WDR11):c.2624+319C>T	noncoding	Benign
10	120901189	C	T	C120901189T	WDR11	NM_018117.12(WDR11):c.2687+91C>T	noncoding	Benign
10	120901261	T	C	T120901261C	WDR11	NM_018117.12(WDR11):c.2687+163T>C	noncoding	Benign
10	120901375	G	T	G120901375T	WDR11	NM_018117.12(WDR11):c.2687+277G>T	noncoding	Benign
10	120902869	G	A	G120902869A	WDR11	NM_018117.12(WDR11):c.2754-186G>A	noncoding	Benign
10	120903233	G	A	G120903233A	WDR11	NM_018117.12(WDR11):c.2931+1G>A	coding	Pathogenic
10	120903809	G	A	G120903809A	WDR11	NM_018117.12(WDR11):c.2932-238G>A	noncoding	Benign
10	120904017	G	C	G120904017C	WDR11	NM_018117.12(WDR11):c.2932-30G>C	noncoding	Benign
10	120904073	G	A	G120904073A	WDR11	NM_018117.12(WDR11):c.2958G>A:p.Leu986=	coding	Benign
10	120904438	G	A	G120904438A	WDR11	NM_018117.12(WDR11):c.3028-208G>A	noncoding	Benign
10	120904876	C	T	C120904876T	WDR11	NM_018117.12(WDR11):c.3193+65C>T	noncoding	Benign
10	120905003	A	T	A120905003T	WDR11	NM_018117.12(WDR11):c.3193+192A>T	noncoding	Benign
10	120905027	T	C	T120905027C	WDR11	NM_018117.12(WDR11):c.3193+216T>C	noncoding	Benign
10	120905182	G	A	G120905182A	WDR11	NM_018117.12(WDR11):c.3194-137G>A	noncoding	Benign
10	120905304	G	A	G120905304A	WDR11	NM_018117.12(WDR11):c.3194-15G>A	noncoding	Benign
10	120905427	C	T	C120905427T	WDR11	NM_018117.12(WDR11):c.3291+11C>T	noncoding	Benign/Likely_benign
10	120905455	C	T	C120905455T	WDR11	NM_018117.12(WDR11):c.3291+39C>T	noncoding	Benign
10	120905558	C	T	C120905558T	WDR11	NM_018117.12(WDR11):c.3291+142C>T	noncoding	Benign
10	120905773	A	C	A120905773C	WDR11	NM_018117.12(WDR11):c.3292-103A>C	noncoding	Benign
10	120905798	T	A	T120905798A	WDR11	NM_018117.12(WDR11):c.3292-78T>A	noncoding	Benign
10	120905947	C	G	C120905947G	WDR11	NM_018117.12(WDR11):c.3363C>G:p.Val1121=	coding	Benign
10	120905977	C	T	C120905977T	WDR11	NM_018117.12(WDR11):c.3393C>T:p.Leu1131=	coding	Benign
10	120906201	C	T	C120906201T	WDR11	NM_018117.12(WDR11):c.3437+180C>T	noncoding	Benign
10	120906246	T	C	T120906246C	WDR11	NM_018117.12(WDR11):c.3437+225T>C	noncoding	Benign
10	120906332	C	T	C120906332T	WDR11	NM_018117.12(WDR11):c.3437+311C>T	noncoding	Benign
10	120908332	G	A	G120908332A	WDR11	NM_018117.12(WDR11):c.3518-224G>A	noncoding	Benign
10	120908784	G	A	G120908784A	WDR11	NM_018117.12(WDR11):c.*71G>A	noncoding	Benign
10	120908900	G	A	G120908900A	WDR11	NM_018117.12(WDR11):c.*187G>A	noncoding	Benign
10	121479995	G	A	G121479995A	FGFR2	NM_000141.5(FGFR2):c.2328C>T:p.Leu776_Glu777=	coding	Benign/Likely_benign
10	121481840	A	T	A121481840T	FGFR2	NM_000141.5(FGFR2):c.2302-1819T>A	noncoding	Benign
10	121481841	T	A	T121481841A	FGFR2	NM_000141.5(FGFR2):c.2302-1820A>T	noncoding	Benign
10	121481847	T	A	T121481847A	FGFR2	NM_000141.5(FGFR2):c.2302-1826A>T	noncoding	Benign
10	121482102	G	A	G121482102A	FGFR2	NM_000141.5(FGFR2):c.2301+1596C>T	coding	Benign
10	121482280	C	T	C121482280T	FGFR2	NM_000141.5(FGFR2):c.2301+1418G>A	noncoding	Benign
10	121482502	C	T	C121482502T	FGFR2	NM_000141.5(FGFR2):c.2301+1196G>A	noncoding	Benign
10	121484153	C	T	C121484153T	FGFR2	NM_000141.5(FGFR2):c.2196-350G>A	noncoding	Benign
10	121485163	C	T	C121485163T	FGFR2	NM_000141.5(FGFR2):c.2195+232G>A	noncoding	Benign
10	121485320	C	T	C121485320T	FGFR2	NM_000141.5(FGFR2):c.2195+75G>A	noncoding	Benign
10	121487379	T	C	T121487379C	FGFR2	NM_000141.5(FGFR2):c.2032A>G:p.Arg678Gly	coding	Pathogenic/Likely_pathogenic
10	121487444	T	C	T121487444C	FGFR2	NM_000141.5(FGFR2):c.1987-20A>G	noncoding	Benign
10	121487523	C	T	C121487523T	FGFR2	NM_000141.5(FGFR2):c.1987-99G>A	noncoding	Benign
10	121487530	T	C	T121487530C	FGFR2	NM_000141.5(FGFR2):c.1987-106A>G	noncoding	Benign
10	121487662	C	T	C121487662T	FGFR2	NM_000141.5(FGFR2):c.1987-238G>A	noncoding	Benign
10	121496701	T	C	T121496701C	FGFR2	NM_000141.5(FGFR2):c.1694A>G:p.Glu565Gly	coding	Pathogenic/Likely_pathogenic
10	121496701	T	G	T121496701G	FGFR2	NM_000141.5(FGFR2):c.1694A>C:p.Glu565Ala	coding	Pathogenic/Likely_pathogenic
10	121500493	C	T	C121500493T	FGFR2	NM_000141.5(FGFR2):c.1561+333G>A	noncoding	Benign
10	121500946	G	A	G121500946A	FGFR2	NM_000141.5(FGFR2):c.1441C>T:p.Leu481_Thr482=	coding	Benign
10	121515541	C	T	C121515541T	FGFR2	NM_000141.5(FGFR2):c.1085-222G>A	noncoding	Benign
10	121517328	C	T	C121517328T	FGFR2	NM_000141.5(FGFR2):c.1075G>A:p.Val359Ile	coding	Pathogenic
10	121517373	C	G	C121517373G	FGFR2	NM_000141.5(FGFR2):c.1030G>C:p.Ala344Pro	coding	Pathogenic
10	121519056	G	C	G121519056C	FGFR2	NM_000141.5(FGFR2):c.939+923C>G	noncoding	Benign
10	121520231	C	T	C121520231T	FGFR2	NM_000141.5(FGFR2):c.749-62G>A	noncoding	Benign
10	121520281	C	T	C121520281T	FGFR2	NM_000141.5(FGFR2):c.749-112G>A	noncoding	Benign
10	121551678	G	A	G121551678A	FGFR2	NM_000141.5(FGFR2):c.455-219C>T	noncoding	Benign
10	121564448	A	G	A121564448G	FGFR2	NM_000141.5(FGFR2):c.454+54T>C	noncoding	Benign
10	121565225	T	A	T121565225A	FGFR2	NM_000141.5(FGFR2):c.376+213A>T	noncoding	Benign
10	121565375	C	T	C121565375T	FGFR2	NM_000141.5(FGFR2):c.376+63G>A	noncoding	Benign
10	121565730	C	T	C121565730T	FGFR2	NM_000141.5(FGFR2):c.110-26G>A	noncoding	Benign
10	121565883	G	C	G121565883C	FGFR2	NM_000141.5(FGFR2):c.110-179C>G	noncoding	Benign
10	121566024	T	C	T121566024C	FGFR2	NM_000141.5(FGFR2):c.110-320A>G	noncoding	Benign
10	121577821	A	G	A121577821G	FGFR2	NM_000141.5(FGFR2):c.110-12117T>C	noncoding	Benign
10	121580593	A	G	A121580593G	FGFR2	NM_000141.5(FGFR2):c.109+13116T>C	noncoding	Benign
10	121580797	C	A	C121580797A	FGFR2	NM_000141.5(FGFR2):c.109+12912G>T	noncoding	Benign
10	121580797	C	T	C121580797T	FGFR2	NM_000141.5(FGFR2):c.109+12912G>A	noncoding	Benign
10	121586602	G	A	G121586602A	FGFR2	NM_000141.5(FGFR2):c.109+7107C>T	noncoding	Benign
10	121586676	A	G	A121586676G	FGFR2	NM_000141.5(FGFR2):c.109+7033T>C	noncoding	Benign
10	121589148	T	A	T121589148A	FGFR2	NM_000141.5(FGFR2):c.109+4561A>T	noncoding	Benign
10	121589148	T	G	T121589148G	FGFR2	NM_000141.5(FGFR2):c.109+4561A>C	noncoding	Benign
10	121589810	A	T	A121589810T	FGFR2	NM_000141.5(FGFR2):c.109+3899T>A	noncoding	Benign
10	121592803	A	G	A121592803G	FGFR2	NM_000141.5(FGFR2):c.109+906T>C	noncoding	Benign
10	121594355	C	T	C121594355T	FGFR2	NM_000141.5(FGFR2):c.-150-388G>A	noncoding	Benign
10	121598582	C	G	C121598582G	FGFR2	Single_allele	noncoding	Benign
10	121598656	C	T	C121598656T	FGFR2	Single_allele	noncoding	Benign
10	122085817	C	G	C122085817G	TACC2	NM_206862.4(TACC2):c.3317C>G:p.Ser1106Trp	coding	Benign
10	122087840	G	A	G122087840A	TACC2	NM_206862.4(TACC2):c.5340G>A:p.Gly1780=	coding	Benign
10	122407996	C	T	C122407996T	PLEKHA1	NM_001001974.4(PLEKHA1):c.342+1323C>T	noncoding	Benign
10	122488726	C	G	C122488726G	HTRA1	NM_002775.5(HTRA1):c.473-176C>G	noncoding	Benign
10	122489719	C	T	C122489719T	HTRA1	NM_002775.5(HTRA1):c.777+93C>T	noncoding	Benign
10	122489793	G	A	G122489793A	HTRA1	NM_002775.5(HTRA1):c.777+167G>A	noncoding	Benign
10	122506671	G	A	G122506671A	HTRA1	NM_002775.5(HTRA1):c.778-20G>A	noncoding	Benign
10	122506675	G	A	G122506675A	HTRA1	NM_002775.5(HTRA1):c.778-16G>A	noncoding	Benign
10	122506747	C	T	C122506747T	HTRA1	NM_002775.5(HTRA1):c.834C>T:p.Phe278=	coding	Benign/Likely_benign
10	122506792	C	T	C122506792T	HTRA1	NM_002775.5(HTRA1):c.879C>T:p.Thr293=	coding	Benign/Likely_benign
10	122506817	C	T	C122506817T	HTRA1	NM_002775.5(HTRA1):c.904C>T:p.Arg302Ter	coding	Pathogenic/Likely_pathogenic
10	122506818	G	A	G122506818A	HTRA1	NM_002775.5(HTRA1):c.905G>A:p.Arg302Gln	coding	Pathogenic/Likely_pathogenic
10	122506871	G	A	G122506871A	HTRA1	NM_002775.5(HTRA1):c.958G>A:p.Asp320Asn	coding	Pathogenic
10	122506984	C	T	C122506984T	HTRA1	NM_002775.5(HTRA1):c.972+99C>T	noncoding	Benign
10	122507100	G	A	G122507100A	HTRA1	NM_002775.5(HTRA1):c.972+215G>A	noncoding	Benign
10	122507393	A	G	A122507393G	HTRA1	NM_002775.5(HTRA1):c.996A>G:p.Leu332=	coding	Benign
10	122507571	G	A	G122507571A	HTRA1	NM_002775.5(HTRA1):c.1005+169G>A	noncoding	Benign
10	122508636	G	A	G122508636A	HTRA1	NM_002775.5(HTRA1):c.1006-20G>A	noncoding	Benign
10	122508885	C	G	C122508885G	HTRA1	NM_002775.5(HTRA1):c.1120+115C>G	noncoding	Benign
10	122509024	G	C	G122509024C	HTRA1	NM_002775.5(HTRA1):c.1120+254G>C	noncoding	Benign
10	122510171	G	A	G122510171A	HTRA1	NM_002775.5(HTRA1):c.1178+18G>A	noncoding	Benign
10	122512065	C	T	C122512065T	HTRA1	NM_002775.5(HTRA1):c.1274C>T:p.Ala425Val	coding	Pathogenic
10	122514155	C	T	C122514155T	HTRA1	NM_002775.5(HTRA1):c.1275-36C>T	noncoding	Benign
10	122574140	G	A	G122574140A	DMBT1	NM_001377530.1(DMBT1):c.283+378G>A	noncoding	Benign
10	122621160	C	A	C122621160A	DMBT1	NM_001377530.1(DMBT1):c.5388C>A:p.Asp1796Glu	coding	Benign
10	122850511	G	A	G122850511A	FAM24B	NM_152644.3(FAM24B):c.5C>T:p.Pro2Leu	coding	Benign
10	122994577	G	A	G122994577A	IKZF5	NM_001372123.1(IKZF5):c.463C>T:p.His155Tyr	coding	Pathogenic
10	122994622	A	G	A122994622G	IKZF5	NM_001372123.1(IKZF5):c.418T>C:p.Cys140Arg	coding	Pathogenic
10	122994639	C	T	C122994639T	IKZF5	NM_001372123.1(IKZF5):c.401G>A:p.Gly134Glu	coding	Pathogenic/Likely_pathogenic
10	122994685	A	G	A122994685G	IKZF5	NM_001372123.1(IKZF5):c.355T>C:p.Ser119Pro	coding	Pathogenic/Likely_pathogenic
10	122996024	G	A	G122996024A	IKZF5	NM_001372123.1(IKZF5):c.286C>T:p.Arg96Trp	coding	Pathogenic/Likely_pathogenic
10	123034081	A	G	A123034081G	ACADSB	NM_001609.4(ACADSB):c.43-275A>G	noncoding	Benign
10	123034813	C	T	C123034813T	ACADSB	NM_001609.4(ACADSB):c.202+298C>T	noncoding	Benign
10	123037453	C	A	C123037453A	ACADSB	NM_001609.4(ACADSB):c.203-294C>A	noncoding	Benign
10	123037474	G	A	G123037474A	ACADSB	NM_001609.4(ACADSB):c.203-273G>A	noncoding	Benign
10	123037972	A	C	A123037972C	ACADSB	NM_001609.4(ACADSB):c.303+125A>C	noncoding	Benign
10	123037991	A	C	A123037991C	ACADSB	NM_001609.4(ACADSB):c.303+144A>C	noncoding	Benign
10	123038007	G	A	G123038007A	ACADSB	NM_001609.4(ACADSB):c.303+160G>A	noncoding	Benign
10	123040947	C	T	C123040947T	ACADSB	NM_001609.4(ACADSB):c.511-262C>T	noncoding	Benign
10	123041353	G	A	G123041353A	ACADSB	NM_001609.4(ACADSB):c.655G>A:p.Val219Met	coding	Pathogenic
10	123042707	G	A	G123042707A	ACADSB	NM_001609.4(ACADSB):c.682-339G>A	noncoding	Benign
10	123043479	G	A	G123043479A	ACADSB	NM_001609.4(ACADSB):c.807+308G>A	noncoding	Benign
10	123043484	C	T	C123043484T	ACADSB	NM_001609.4(ACADSB):c.807+313C>T	noncoding	Benign
10	123051473	C	G	C123051473G	ACADSB	NM_001609.4(ACADSB):c.1128+287C>G	noncoding	Benign
10	123052971	A	G	A123052971G	ACADSB	NM_001609.4(ACADSB):c.1129-90A>G	noncoding	Benign
10	124397955	A	T	A124397955T	OAT	NM_000274.4(OAT):c.1307T>A:p.Ile436Asn	coding	Pathogenic
10	124398099	C	T	C124398099T	OAT	NM_000274.4(OAT):c.1163G>A:p.Trp388Ter	coding	Pathogenic
10	124398210	C	T	C124398210T	OAT	NM_000274.4(OAT):c.1160-108G>A	noncoding	Benign
10	124400839	C	T	C124400839T	OAT	NM_000274.4(OAT):c.1159+1G>A	noncoding	Pathogenic
10	124400849	C	A	C124400849A	OAT	NM_000274.4(OAT):c.1150G>T:p.Glu384Ter	coding	Pathogenic
10	124402946	A	T	A124402946T	OAT	NM_000274.4(OAT):c.881T>A:p.Leu294His	coding	Pathogenic
10	124403031	G	A	G124403031A	OAT	NM_000274.4(OAT):c.796C>T:p.Gln266Ter	coding	Pathogenic
10	124403196	G	A	G124403196A	OAT	NM_000274.4(OAT):c.772-141C>T	noncoding	Benign
10	124403233	G	C	G124403233C	OAT	NM_000274.4(OAT):c.772-178C>G	noncoding	Benign
10	124403245	A	C	A124403245C	OAT	NM_000274.4(OAT):c.772-190T>G	noncoding	Benign
10	124403510	G	A	G124403510A	OAT	NM_000274.4(OAT):c.771+288C>T	noncoding	Benign
10	124403571	C	T	C124403571T	OAT	NM_000274.4(OAT):c.771+227G>A	noncoding	Benign
10	124403847	G	A	G124403847A	OAT	NM_000274.4(OAT):c.722C>T:p.Pro241Leu	coding	Pathogenic
10	124405243	G	C	G124405243C	OAT	NM_000274.4(OAT):c.648+193C>G	noncoding	Benign
10	124405290	C	T	C124405290T	OAT	NM_000274.4(OAT):c.648+146G>A	noncoding	Benign
10	124408515	T	C	T124408515C	OAT	NM_000274.4(OAT):c.520+27A>G	noncoding	Benign
10	124409147	G	A	G124409147A	OAT	NM_000274.4(OAT):c.200-182C>T	noncoding	Benign
10	124411954	G	A	G124411954A	OAT	NM_000274.4(OAT):c.199+19C>T	noncoding	Benign
10	124412171	T	C	T124412171C	OAT	NM_000274.4(OAT):c.1A>G:p.Met1Val	coding	Pathogenic
10	125039033	T	A	T125039033A	CTBP2	NM_001329.4(CTBP2):c.22A>T:p.Lys8Ter	coding	Benign
10	125772260	C	A	C125772260A	MMP21	NM_147191.1(MMP21):c.937G>T:p.Glu313Ter	coding	Pathogenic
10	125774264	C	T	C125774264T	MMP21	NM_147191.1(MMP21):c.264G>A:p.Ala88=	coding	Benign
10	125788956	A	G	A125788956G	UROS	NM_000375.3(UROS):c.710T>C:p.Leu237Pro	coding	Pathogenic
10	125795004	G	A	G125795004A	UROS	NM_000375.3(UROS):c.562-26C>T	noncoding	Benign
10	125795974	G	C	G125795974C	UROS	NM_000375.3(UROS):c.561+129C>G	noncoding	Benign
10	125796048	C	G	C125796048G	UROS	NM_000375.3(UROS):c.561+55G>C	noncoding	Benign
10	125796084	G	A	G125796084A	UROS	NM_000375.3(UROS):c.561+19C>T	noncoding	Benign
10	125796388	G	T	G125796388T	UROS	NM_000375.3(UROS):c.476-200C>A	noncoding	Benign
10	125797860	G	A	G125797860A	UROS	NM_000375.3(UROS):c.475+205C>T	noncoding	Benign
10	125798078	C	T	C125798078T	UROS	NM_000375.3(UROS):c.462G>A:p.Ala154=	coding	Benign
10	125798147	T	G	T125798147G	UROS	NM_000375.3(UROS):c.395-2A>C	noncoding	Pathogenic
10	125798316	C	T	C125798316T	UROS	NM_000375.3(UROS):c.395-171G>A	noncoding	Benign
10	125807238	A	C	A125807238C	UROS	NM_000375.3(UROS):c.394+175T>G	noncoding	Benign
10	125807263	T	C	T125807263C	UROS	NM_000375.3(UROS):c.394+150A>G	noncoding	Benign
10	125807790	C	T	C125807790T	UROS	NM_000375.3(UROS):c.320-303G>A	noncoding	Benign
10	125812149	C	G	C125812149G	UROS	NM_000375.3(UROS):c.319+65G>C	noncoding	Benign
10	125812237	A	G	A125812237G	UROS	NM_000375.3(UROS):c.296T>C:p.Val99Ala	coding	Pathogenic
10	125815055	C	A	C125815055A	UROS	NM_000375.3(UROS):c.223G>T:p.Glu75Ter	coding	Pathogenic
10	125815365	G	C	G125815365C	UROS	NM_000375.3(UROS):c.148-235C>G	noncoding	Benign
10	125815374	G	A	G125815374A	UROS	NM_000375.3(UROS):c.148-244C>T	noncoding	Benign
10	125816091	A	G	A125816091G	UROS	NM_000375.3(UROS):c.147+86T>C	noncoding	Benign
10	125816473	C	T	C125816473T	UROS	NM_000375.3(UROS):c.27G>A:p.Ala9=	coding	Benign/Likely_benign
10	125816857	G	A	G125816857A	UROS	NM_000375.3(UROS):c.-26-332C>T	noncoding	Benign
10	125841756	T	C	T125841756C	DHX32	NM_018180.3(DHX32):c.1530A>G:p.Ala510_Ala511=	coding	Benign
10	125852287	G	A	G125852287A	DHX32	NM_018180.3(DHX32):c.1351+6C>T	noncoding	Benign
10	125852300	G	A	G125852300A	DHX32	NM_018180.3(DHX32):c.1344C>T:p.Asn448_Arg449=	coding	Benign
10	125852631	C	T	C125852631T	DHX32	NM_018180.3(DHX32):c.1104G>A:p.Pro368_Arg369=	coding	Benign
10	125859645	C	T	C125859645T	DHX32	NM_018180.3(DHX32):c.807G>A:p.Ser269=	coding	Benign
10	125859807	A	T	A125859807T	DHX32	NM_018180.3(DHX32):c.645T>A:p.Ile215=	coding	Benign
10	125859975	C	T	C125859975T	DHX32	NM_018180.3(DHX32):c.477G>A:p.Arg159=	coding	Benign
10	125867034	G	A	G125867034A	DHX32	NM_018180.3(DHX32):c.432C>T:p.Tyr144=	coding	Benign
10	125880532	T	C	T125880532C	DHX32	NM_018180.3(DHX32):c.282+11A>G	noncoding	Benign
10	125880779	G	A	G125880779A	DHX32	NM_018180.3(DHX32):c.46C>T:p.Arg16Cys	coding	Benign
10	125880809	G	C	G125880809C	DHX32	NM_018180.3(DHX32):c.16C>G:p.Leu6Val	coding	Benign
10	128103682	T	G	T128103682G	MKI67	NM_002417.5(MKI67):c.8158A>C:p.Thr2720Pro	coding	Benign
10	128103894	C	T	C128103894T	MKI67	NM_002417.5(MKI67):c.7946G>A:p.Arg2649His	coding	Benign
10	128106653	G	A	G128106653A	MKI67	NM_002417.5(MKI67):c.5187C>T:p.Asn1729=	coding	Benign
10	129766906	A	G	A129766906G	MGMT	NM_002412.5(MGMT):c.533A>G:p.Lys178Arg	coding	Benign
10	129842278	G	A	G129842278A	EBF3	NM_001375380.1(EBF3):c.1210C>T:p.Arg404Ter	coding	Pathogenic/Likely_pathogenic
10	129873572	C	T	C129873572T	EBF3	NM_001375380.1(EBF3):c.661G>A:p.Val221Met	coding	Pathogenic
10	129877779	G	A	G129877779A	EBF3	NM_001375380.1(EBF3):c.625C>T:p.Arg209Trp	coding	Pathogenic/Likely_pathogenic
10	129877817	T	C	T129877817C	EBF3	NM_001375380.1(EBF3):c.587A>G:p.Gln196Arg	coding	Pathogenic
10	129957254	T	G	T129957254G	EBF3	NM_001375380.1(EBF3):c.554+4A>C	noncoding	Pathogenic
10	129958965	G	C	G129958965C	EBF3	NM_001375380.1(EBF3):c.454C>G:p.Arg152Gly	coding	Pathogenic
10	129963007	T	C	T129963007C	EBF3	NM_001375380.1(EBF3):c.292-2A>G	noncoding	Pathogenic
10	129963366	C	T	C129963366T	EBF3	NM_001375380.1(EBF3):c.291+1G>A	noncoding	Pathogenic
10	129963429	T	G	T129963429G	EBF3	NM_001375380.1(EBF3):c.229A>C:p.Arg77=	coding	Benign
10	129963680	C	T	C129963680T	EBF3	NM_001375380.1(EBF3):c.89G>A:p.Trp30Ter	coding	Pathogenic
10	132785124	A	G	A132785124G	NKX6-2	NM_177400.3(NKX6-2):c.626T>C:p.Val209Ala	coding	Benign
10	132785152	G	A	G132785152A	NKX6-2	NM_177400.3(NKX6-2):c.598C>T:p.Arg200Trp	coding	Pathogenic
10	132785288	G	A	G132785288A	NKX6-2	NM_177400.3(NKX6-2):c.571C>T:p.Gln191Ter	coding	Pathogenic
10	132785343	G	C	G132785343C	NKX6-2	NM_177400.3(NKX6-2):c.516C>G:p.Tyr172Ter	coding	Pathogenic
10	132785526	C	A	C132785526A	NKX6-2	NM_177400.3(NKX6-2):c.406+17G>T	noncoding	Benign
10	132785835	G	C	G132785835C	NKX6-2	NM_177400.3(NKX6-2):c.114C>G:p.Ala38=	coding	Benign
10	133283930	A	G	A133283930G	TUBGCP2	NM_006659.4(TUBGCP2):c.2097T>C:p.Phe699=	coding	Benign
10	133285168	G	A	G133285168A	TUBGCP2	NM_006659.4(TUBGCP2):c.1941C>T:p.Tyr647=	coding	Benign
10	133292479	C	T	C133292479T	TUBGCP2	NM_006659.4(TUBGCP2):c.1214+20G>A	noncoding	Benign
10	133292487	G	A	G133292487A	TUBGCP2	NM_006659.4(TUBGCP2):c.1214+12C>T	noncoding	Benign
10	133292510	G	A	G133292510A	TUBGCP2	NM_006659.4(TUBGCP2):c.1203C>T:p.His401=	coding	Benign
10	133299436	C	T	C133299436T	TUBGCP2	NM_006659.4(TUBGCP2):c.447G>A:p.Thr149=	coding	Benign
10	133362587	G	A	G133362587A	ECHS1	NM_004092.4(ECHS1):c.*281C>T	noncoding	Benign
10	133362754	G	A	G133362754A	ECHS1	NM_004092.4(ECHS1):c.*114C>T	noncoding	Benign
10	133362950	C	T	C133362950T	ECHS1	NM_004092.4(ECHS1):c.808-17G>A	noncoding	Benign/Likely_benign
10	133363054	C	T	C133363054T	ECHS1	NM_004092.4(ECHS1):c.808-121G>A	noncoding	Benign
10	133364583	A	C	A133364583C	ECHS1	NM_004092.4(ECHS1):c.807+75T>G	noncoding	Benign
10	133364815	T	C	T133364815C	ECHS1	NM_004092.4(ECHS1):c.740-90A>G	noncoding	Benign
10	133365859	G	C	G133365859C	ECHS1	NM_004092.4(ECHS1):c.739+117C>G	noncoding	Benign
10	133365954	G	C	G133365954C	ECHS1	NM_004092.4(ECHS1):c.739+22C>G	noncoding	Benign
10	133366327	G	A	G133366327A	ECHS1	NM_004092.4(ECHS1):c.620-232C>T	noncoding	Benign
10	133366813	G	A	G133366813A	ECHS1	NM_004092.4(ECHS1):c.619+76C>T	noncoding	Benign
10	133366945	G	A	G133366945A	ECHS1	NM_004092.4(ECHS1):c.563C>T:p.Ala188Val	coding	Pathogenic
10	133368841	T	C	T133368841C	ECHS1	NM_004092.4(ECHS1):c.514+82A>G	noncoding	Benign
10	133369035	C	T	C133369035T	ECHS1	NM_004092.4(ECHS1):c.415-13G>A	noncoding	Benign
10	133370104	A	G	A133370104G	ECHS1	NM_004092.4(ECHS1):c.287-73T>C	noncoding	Benign
10	133370476	G	A	G133370476A	ECHS1	NM_004092.4(ECHS1):c.286+84C>T	noncoding	Benign
10	133370596	C	T	C133370596T	ECHS1	NM_004092.4(ECHS1):c.250G>A:p.Ala84Thr	coding	Pathogenic
10	133373241	C	T	C133373241T	ECHS1	NM_004092.4(ECHS1):c.88+5G>A	noncoding	Pathogenic/Likely_pathogenic
10	133373302	A	G	A133373302G	ECHS1	NM_004092.4(ECHS1):c.32T>C:p.Val11Ala	coding	Benign
10	133560087	C	T	C133560087T	SYCE1	NM_001143764.3(SYCE1):c.136+4G>A	noncoding	Benign
11	298224	C	T	C298224T	IFITM5	NM_001025295.3(IFITM5):c.*277G>A	noncoding	Benign
11	298316	C	T	C298316T	IFITM5	NM_001025295.3(IFITM5):c.*185G>A	noncoding	Benign
11	298515	C	T	C298515T	IFITM5	NM_001025295.3(IFITM5):c.385G>A:p.Ala129Thr	coding	Benign
11	298630	C	T	C298630T	IFITM5	NM_001025295.3(IFITM5):c.270G>A:p.Ala90=	coding	Benign
11	298678	C	T	C298678T	IFITM5	NM_001025295.3(IFITM5):c.222G>A:p.Ala74=	coding	Benign
11	298758	G	A	G298758A	IFITM5	NM_001025295.3(IFITM5):c.187-45C>T	noncoding	Benign
11	299262	G	T	G299262T	IFITM5	NM_001025295.3(IFITM5):c.186+43C>A	noncoding	Benign
11	299395	C	T	C299395T	IFITM5	NM_001025295.3(IFITM5):c.96G>A:p.Pro32=	coding	Benign
11	299405	G	A	G299405A	IFITM5	NM_001025295.3(IFITM5):c.86C>T:p.Pro29Leu	coding	Benign
11	299438	G	A	G299438A	IFITM5	NM_001025295.3(IFITM5):c.53C>T:p.Ala18Val	coding	Benign
11	299449	C	T	C299449T	IFITM5	NM_001025295.3(IFITM5):c.42G>A:p.Thr14=	coding	Benign/Likely_benign
11	299450	G	A	G299450A	IFITM5	NM_001025295.3(IFITM5):c.41C>T:p.Thr14Met	coding	Benign/Likely_benign
11	299457	C	A	C299457A	IFITM5	NM_001025295.3(IFITM5):c.34G>T:p.Ala12Ser	coding	Benign/Likely_benign
11	299617	G	A	G299617A	IFITM5	Single_allele	noncoding	Benign
11	530447	A	G	A530447G	LRRC56	Single_allele	noncoding	Benign
11	530466	G	C	G530466C	LRRC56	Single_allele	noncoding	Benign
11	530475	G	A	G530475A	LRRC56	Single_allele	noncoding	Benign
11	531070	G	A	G531070A	LRRC56	Single_allele	noncoding	Benign
11	532570	C	T	C532570T	HRAS	NM_005343.4(HRAS):c.*6-48G>A	noncoding	Benign
11	532596	G	A	G532596A	HRAS	NM_005343.4(HRAS):c.*5+35C>T	noncoding	Benign
11	532602	G	A	G532602A	HRAS	NM_005343.4(HRAS):c.*5+29C>T	noncoding	Benign
11	532607	G	A	G532607A	HRAS	NM_005343.4(HRAS):c.*5+24C>T	noncoding	Benign
11	532738	G	C	G532738C	HRAS	NM_005343.4(HRAS):c.468C>G:p.Phe156Leu	coding	Pathogenic
11	532740	A	G	A532740G	HRAS	NM_005343.4(HRAS):c.466T>C:p.Phe156Leu	coding	Pathogenic
11	532979	C	T	C532979T	HRAS	NM_005343.4(HRAS):c.451-224G>A	noncoding	Benign
11	533404	C	T	C533404T	HRAS	NM_005343.4(HRAS):c.450+49G>A	noncoding	Benign
11	533415	G	A	G533415A	HRAS	NM_005343.4(HRAS):c.450+38C>T	noncoding	Benign
11	533540	A	G	A533540G	HRAS	NM_005343.4(HRAS):c.363T>C:p.Ala121=	coding	Benign/Likely_benign
11	533642	G	A	G533642A	HRAS	NM_005343.4(HRAS):c.291-30C>T	noncoding	Benign
11	533900	C	T	C533900T	HRAS	NM_005343.4(HRAS):c.156G>A:p.Leu52=	coding	Benign/Likely_benign
11	534137	G	C	G534137C	HRAS	NM_005343.4(HRAS):c.111+75C>G	noncoding	Benign
11	534162	G	C	G534162C	HRAS	NM_005343.4(HRAS):c.111+50C>G	noncoding	Benign
11	534355	C	T	C534355T	HRAS	NM_005343.4(HRAS):c.-33G>A	noncoding	Benign
11	534385	A	G	A534385G	HRAS	NM_005343.4(HRAS):c.-53-10T>C	noncoding	Benign
11	535369	G	A	G535369A	HRAS	NM_005343.4(HRAS):c.-54+47C>T	noncoding	Benign
11	535596	C	T	C535596T	HRAS	Single_allele	noncoding	Benign
11	535603	G	A	G535603A	HRAS	Single_allele	noncoding	Benign
11	535649	C	T	C535649T	HRAS	Single_allele	noncoding	Benign
11	540584	G	A	G540584A	LRRC56	NM_198075.4(LRRC56):c.-11-90G>A	noncoding	Benign
11	540604	A	C	A540604C	LRRC56	NM_198075.4(LRRC56):c.-11-70A>C	noncoding	Benign
11	540719	G	A	G540719A	LRRC56	NM_198075.4(LRRC56):c.35G>A:p.Arg12Gln	coding	Benign
11	540740	G	A	G540740A	LRRC56	NM_198075.4(LRRC56):c.56G>A:p.Arg19Gln	coding	Benign
11	540865	A	T	A540865T	LRRC56	NM_198075.4(LRRC56):c.177+4A>T	noncoding	Benign
11	541462	C	T	C541462T	LRRC56	NM_198075.4(LRRC56):c.178-75C>T	noncoding	Benign
11	541565	G	A	G541565A	LRRC56	NM_198075.4(LRRC56):c.206G>A:p.Arg69Gln	coding	Benign
11	541601	G	C	G541601C	LRRC56	NM_198075.4(LRRC56):c.242G>C:p.Arg81Pro	coding	Benign
11	541643	C	T	C541643T	LRRC56	NM_198075.4(LRRC56):c.265+19C>T	noncoding	Benign
11	544528	G	T	G544528T	LRRC56	NM_198075.4(LRRC56):c.266-192G>T	noncoding	Benign
11	544827	C	T	C544827T	LRRC56	NM_198075.4(LRRC56):c.326+47C>T	noncoding	Benign
11	549946	C	T	C549946T	LRRC56	NM_198075.4(LRRC56):c.371C>T:p.Ala124Val	coding	Benign
11	549957	C	G	C549957G	LRRC56	NM_198075.4(LRRC56):c.382C>G:p.Leu128Val	coding	Benign
11	549959	C	T	C549959T	LRRC56	NM_198075.4(LRRC56):c.384C>T:p.Leu128=	coding	Benign
11	550028	C	G	C550028G	LRRC56	NM_198075.4(LRRC56):c.423+30C>G	noncoding	Benign
11	550063	G	A	G550063A	LRRC56	NM_198075.4(LRRC56):c.424-9G>A	noncoding	Benign
11	550080	C	T	C550080T	LRRC56	NM_198075.4(LRRC56):c.432C>T:p.Tyr144=	coding	Benign
11	550161	C	T	C550161T	LRRC56	NM_198075.4(LRRC56):c.513C>T:p.Ser171=	coding	Benign
11	550192	C	A	C550192A	LRRC56	NM_198075.4(LRRC56):c.544C>A:p.Gln182Lys	coding	Benign
11	551161	G	A	G551161A	LRRC56	NM_198075.4(LRRC56):c.655G>A:p.Val219Met	coding	Benign
11	551204	C	T	C551204T	LRRC56	NM_198075.4(LRRC56):c.698C>T:p.Pro233Leu	coding	Benign
11	551205	G	A	G551205A	LRRC56	NM_198075.4(LRRC56):c.699G>A:p.Pro233=	coding	Benign
11	551229	C	A	C551229A	LRRC56	NM_198075.4(LRRC56):c.723C>A:p.Ala241=	coding	Benign
11	551229	C	T	C551229T	LRRC56	NM_198075.4(LRRC56):c.723C>T:p.Ala241=	coding	Benign
11	551235	G	A	G551235A	LRRC56	NM_198075.4(LRRC56):c.729G>A:p.Pro243=	coding	Benign
11	551283	C	T	C551283T	LRRC56	NM_198075.4(LRRC56):c.777C>T:p.Gly259=	coding	Benign
11	551338	C	T	C551338T	LRRC56	NM_198075.4(LRRC56):c.796+36C>T	noncoding	Benign
11	551405	G	A	G551405A	LRRC56	NM_198075.4(LRRC56):c.796+103G>A	noncoding	Benign
11	551422	C	T	C551422T	LRRC56	NM_198075.4(LRRC56):c.796+120C>T	noncoding	Benign
11	551644	C	T	C551644T	LRRC56	NM_198075.4(LRRC56):c.797-7C>T	noncoding	Benign
11	551669	C	G	C551669G	LRRC56	NM_198075.4(LRRC56):c.815C>G:p.Pro272Arg	coding	Benign
11	551741	C	T	C551741T	LRRC56	NM_198075.4(LRRC56):c.887C>T:p.Ser296Phe	coding	Benign
11	551753	G	A	G551753A	LRRC56	NM_198075.4(LRRC56):c.899G>A:p.Arg300His	coding	Benign
11	552101	C	T	C552101T	LRRC56	NM_198075.4(LRRC56):c.1050C>T:p.Pro350=	coding	Benign
11	552153	A	C	A552153C	LRRC56	NM_198075.4(LRRC56):c.1102A>C:p.Thr368Pro	coding	Benign
11	552547	T	C	T552547C	LRRC56	NM_198075.4(LRRC56):c.1182-22T>C	noncoding	Benign
11	552752	C	G	C552752G	LRRC56	NM_198075.4(LRRC56):c.1315+50C>G	noncoding	Benign
11	552756	T	C	T552756C	LRRC56	NM_198075.4(LRRC56):c.1315+54T>C	noncoding	Benign
11	552787	T	C	T552787C	LRRC56	NM_198075.4(LRRC56):c.1315+85T>C	noncoding	Benign
11	552788	G	C	G552788C	LRRC56	NM_198075.4(LRRC56):c.1315+86G>C	noncoding	Benign
11	552875	A	G	A552875G	LRRC56	NM_198075.4(LRRC56):c.1315+173A>G	noncoding	Benign
11	553847	C	T	C553847T	LRRC56	NM_198075.4(LRRC56):c.1316-116C>T	noncoding	Benign
11	553866	G	A	G553866A	LRRC56	NM_198075.4(LRRC56):c.1316-97G>A	noncoding	Benign
11	553955	C	T	C553955T	LRRC56	NM_198075.4(LRRC56):c.1316-8C>T	noncoding	Benign
11	554003	T	G	T554003G	LRRC56	NM_198075.4(LRRC56):c.1356T>G:p.Pro452=	coding	Benign
11	554018	G	A	G554018A	LRRC56	NM_198075.4(LRRC56):c.1371G>A:p.Arg457=	coding	Benign
11	554047	G	A	G554047A	LRRC56	NM_198075.4(LRRC56):c.1400G>A:p.Arg467Gln	coding	Benign
11	554166	C	G	C554166G	LRRC56	NM_198075.4(LRRC56):c.1519C>G:p.Arg507Gly	coding	Benign
11	554214	G	C	G554214C	LRRC56	NM_198075.4(LRRC56):c.1567G>C:p.Asp523His	coding	Benign
11	554299	C	G	C554299G	LRRC56	NM_198075.4(LRRC56):c.*23C>G	noncoding	Benign
11	612818	G	A	G612818A	IRF7	NM_001572.5(IRF7):c.1357-18C>T	noncoding	Benign
11	612843	T	G	T612843G	IRF7	NM_001572.5(IRF7):c.1357-43A>C	noncoding	Benign
11	612967	A	G	A612967G	IRF7	NM_001572.5(IRF7):c.1356+32T>C	noncoding	Benign
11	613165	G	C	G613165C	IRF7	NM_001572.5(IRF7):c.1237+41C>G	noncoding	Benign
11	613192	A	G	A613192G	IRF7	NM_001572.5(IRF7):c.1237+14T>C	noncoding	Benign
11	613208	T	C	T613208C	IRF7	NM_001572.5(IRF7):c.1235A>G:p.Gln412Arg	coding	Benign
11	613297	T	G	T613297G	IRF7	NM_001572.5(IRF7):c.1146A>C:p.Gly382=	coding	Benign
11	613607	C	G	C613607G	IRF7	NM_001572.5(IRF7):c.848-12G>C	noncoding	Benign
11	613879	G	A	G613879A	IRF7	NM_001572.5(IRF7):c.767-14C>T	noncoding	Benign
11	613884	C	T	C613884T	IRF7	NM_001572.5(IRF7):c.767-19G>A	noncoding	Benign
11	614053	C	G	C614053G	IRF7	NM_001572.5(IRF7):c.680-16G>C	noncoding	Benign
11	614055	G	A	G614055A	IRF7	NM_001572.5(IRF7):c.680-18C>T	noncoding	Benign
11	614318	T	C	T614318C	IRF7	NM_001572.5(IRF7):c.535A>G:p.Lys179Glu	coding	Benign
11	614367	T	C	T614367C	IRF7	NM_001572.5(IRF7):c.486A>G:p.Thr162=	coding	Benign
11	614864	C	T	C614864T	IRF7	NM_001572.5(IRF7):c.327G>A:p.Arg109=	coding	Benign
11	615010	G	T	G615010T	IRF7	NM_001572.5(IRF7):c.184-3C>A	noncoding	Benign
11	615011	A	T	A615011T	IRF7	NM_001572.5(IRF7):c.184-4T>A	noncoding	Benign
11	615103	G	A	G615103A	IRF7	NM_001572.5(IRF7):c.177C>T:p.Ile59=	coding	Benign
11	640109	A	C	A640109C	DRD4	NM_000797.4(DRD4):c.860A>C:p.Gln287Pro	coding	Benign/Likely_benign
11	654091	G	A	G654091A	DEAF1	NM_021008.4(DEAF1):c.1504-40C>T	noncoding	Benign
11	674454	G	T	G674454T	DEAF1	NM_021008.4(DEAF1):c.1503+82C>A	noncoding	Benign
11	674458	G	A	G674458A	DEAF1	NM_021008.4(DEAF1):c.1503+78C>T	noncoding	Benign
11	674499	G	A	G674499A	DEAF1	NM_021008.4(DEAF1):c.1503+37C>T	noncoding	Benign
11	674731	C	T	C674731T	DEAF1	NM_021008.4(DEAF1):c.1308G>A:p.Ala436=	coding	Benign
11	674733	C	T	C674733T	DEAF1	NM_021008.4(DEAF1):c.1306G>A:p.Ala436Thr	coding	Benign
11	674800	G	A	G674800A	DEAF1	NM_021008.4(DEAF1):c.1256-17C>T	noncoding	Benign
11	678767	G	A	G678767A	DEAF1	NM_021008.4(DEAF1):c.1182C>T:p.Tyr394=	coding	Benign/Likely_benign
11	678812	G	A	G678812A	DEAF1	NM_021008.4(DEAF1):c.1137C>T:p.Ala379=	coding	Benign
11	679915	G	A	G679915A	DEAF1	NM_021008.4(DEAF1):c.998-99C>T	noncoding	Benign
11	680866	A	G	A680866G	DEAF1	NM_021008.4(DEAF1):c.997+97T>C	noncoding	Benign
11	681077	T	C	T681077C	DEAF1	NM_021008.4(DEAF1):c.883A>G:p.Arg295Gly	coding	Pathogenic
11	684910	G	A	G684910A	DEAF1	NM_021008.4(DEAF1):c.858C>T:p.Asp286=	coding	Benign
11	684913	G	A	G684913A	DEAF1	NM_021008.4(DEAF1):c.855C>T:p.Cys285=	coding	Benign/Likely_benign
11	684945	G	A	G684945A	DEAF1	NM_021008.4(DEAF1):c.823C>T:p.His275Tyr	coding	Pathogenic
11	684953	A	C	A684953C	DEAF1	NM_021008.4(DEAF1):c.815T>G:p.Leu272Ter	coding	Pathogenic
11	684953	A	G	A684953G	DEAF1	NM_021008.4(DEAF1):c.815T>C:p.Leu272Ser	coding	Pathogenic
11	686839	G	A	G686839A	DEAF1	NM_021008.4(DEAF1):c.804+19C>T	noncoding	Benign
11	686925	C	G	C686925G	DEAF1	NM_021008.4(DEAF1):c.737G>C:p.Arg246Thr	coding	Pathogenic/Likely_pathogenic
11	686943	A	G	A686943G	DEAF1	NM_021008.4(DEAF1):c.719T>C:p.Phe240Ser	coding	Pathogenic
11	686962	A	C	A686962C	DEAF1	NM_021008.4(DEAF1):c.700T>G:p.Trp234Gly	coding	Pathogenic/Likely_pathogenic
11	686988	C	T	C686988T	DEAF1	NM_021008.4(DEAF1):c.674G>A:p.Gly225Glu	coding	Pathogenic
11	688091	C	T	C688091T	DEAF1	NM_021008.4(DEAF1):c.518-34G>A	noncoding	Benign
11	688312	G	A	G688312A	DEAF1	NM_021008.4(DEAF1):c.517+19C>T	noncoding	Benign
11	688323	C	T	C688323T	DEAF1	NM_021008.4(DEAF1):c.517+8G>A	noncoding	Benign
11	691636	G	A	G691636A	DEAF1	NM_021008.4(DEAF1):c.290-38C>T	noncoding	Benign
11	694942	C	A	C694942A	DEAF1	NM_021008.4(DEAF1):c.106G>T:p.Glu36Ter	coding	Pathogenic
11	709401	A	G	A709401G	EPS8L2	NM_022772.4(EPS8L2):c.-7A>G	noncoding	Benign
11	709680	T	C	T709680C	EPS8L2	NM_022772.4(EPS8L2):c.100+72T>C	noncoding	Benign
11	710558	G	A	G710558A	EPS8L2	NM_022772.4(EPS8L2):c.165+72G>A	noncoding	Benign
11	710567	A	C	A710567C	EPS8L2	NM_022772.4(EPS8L2):c.165+81A>C	noncoding	Benign
11	719981	C	G	C719981G	EPS8L2	NM_022772.4(EPS8L2):c.166-81C>G	noncoding	Benign
11	720197	C	T	C720197T	EPS8L2	NM_022772.4(EPS8L2):c.301C>T:p.Leu101=	coding	Benign
11	720763	C	T	C720763T	EPS8L2	NM_022772.4(EPS8L2):c.477+17C>T	noncoding	Benign
11	721013	A	G	A721013G	EPS8L2	NM_022772.4(EPS8L2):c.558-51A>G	noncoding	Benign
11	721019	A	G	A721019G	EPS8L2	NM_022772.4(EPS8L2):c.558-45A>G	noncoding	Benign
11	721570	C	T	C721570T	EPS8L2	NM_022772.4(EPS8L2):c.774C>T:p.Ile258=	coding	Benign
11	721737	A	G	A721737G	EPS8L2	NM_022772.4(EPS8L2):c.895+46A>G	noncoding	Benign
11	721877	G	C	G721877C	EPS8L2	NM_022772.4(EPS8L2):c.896-26G>C	noncoding	Benign
11	721931	C	T	C721931T	EPS8L2	NM_022772.4(EPS8L2):c.924C>T:p.Pro308=	coding	Benign
11	722193	G	A	G722193A	EPS8L2	NM_022772.4(EPS8L2):c.1059+28G>A	noncoding	Benign
11	722202	G	C	G722202C	EPS8L2	NM_022772.4(EPS8L2):c.1059+37G>C	noncoding	Benign
11	722569	T	C	T722569C	EPS8L2	NM_022772.4(EPS8L2):c.1208+20T>C	noncoding	Benign
11	722709	C	T	C722709T	EPS8L2	NM_022772.4(EPS8L2):c.1245C>T:p.Tyr415=	coding	Benign
11	723116	C	T	C723116T	EPS8L2	NM_022772.4(EPS8L2):c.1342-125C>T	noncoding	Benign
11	723429	C	T	C723429T	EPS8L2	NM_022772.4(EPS8L2):c.1454+76C>T	noncoding	Benign
11	724502	A	T	A724502T	EPS8L2	NM_022772.4(EPS8L2):c.1455-222A>T	noncoding	Benign
11	724846	C	T	C724846T	EPS8L2	NM_022772.4(EPS8L2):c.1560+17C>T	noncoding	Benign
11	726031	G	A	G726031A	EPS8L2	NM_022772.4(EPS8L2):c.1681-67G>A	noncoding	Benign
11	726193	G	A	G726193A	EPS8L2	NM_022772.4(EPS8L2):c.1753+23G>A	noncoding	Benign
11	726581	T	C	T726581C	EPS8L2	NM_022772.4(EPS8L2):c.1935-38T>C	noncoding	Benign
11	726764	G	A	G726764A	EPS8L2	NM_022772.4(EPS8L2):c.2067+13G>A	noncoding	Benign
11	726814	C	G	C726814G	EPS8L2	NM_022772.4(EPS8L2):c.2067+63C>G	noncoding	Benign
11	760139	A	T	A760139T	TALDO1	NM_006755.2(TALDO1):c.347A>T:p.Asp116Val	coding	Benign
11	765066	C	T	C765066T	TALDO1	Single_allele	noncoding	Benign
11	792084	G	A	G792084A	SLC25A22	NM_001191061.2(SLC25A22):c.819-16C>T	noncoding	Benign/Likely_benign
11	792233	G	A	G792233A	SLC25A22	NM_001191061.2(SLC25A22):c.743-16C>T	noncoding	Benign/Likely_benign
11	792429	G	A	G792429A	SLC25A22	NM_001191061.2(SLC25A22):c.617C>T:p.Pro206Leu	coding	Pathogenic/Likely_pathogenic
11	792763	C	G	C792763G	SLC25A22	NM_001191061.2(SLC25A22):c.413-36G>C	noncoding	Benign
11	793008	G	A	G793008A	SLC25A22	NM_001191061.2(SLC25A22):c.294-20C>T	noncoding	Benign/Likely_benign
11	794535	G	A	G794535A	SLC25A22	NM_001191061.2(SLC25A22):c.147-22C>T	noncoding	Benign
11	794641	C	T	C794641T	SLC25A22	NM_001191061.2(SLC25A22):c.147-128G>A	noncoding	Benign
11	794916	G	A	G794916A	SLC25A22	NM_001191061.2(SLC25A22):c.21-15C>T	noncoding	Benign/Likely_benign
11	795366	G	A	G795366A	SLC25A22	NM_001191061.2(SLC25A22):c.-163-197C>T	noncoding	Benign
11	795380	A	C	A795380C	SLC25A22	NM_001191061.2(SLC25A22):c.-163-211T>G	noncoding	Benign
11	796006	C	A	C796006A	SLC25A22	NM_001191061.2(SLC25A22):c.-163-837G>T	noncoding	Benign
11	797370	T	C	T797370C	SLC25A22	NM_001191061.2(SLC25A22):c.-164+847A>G	noncoding	Benign
11	797834	C	A	C797834A	SLC25A22	NM_001191061.2(SLC25A22):c.-164+383G>T	coding	Benign
11	797935	C	G	C797935G	SLC25A22	NM_001191061.2(SLC25A22):c.-164+282G>C	coding	Benign
11	799456	G	A	G799456A	PIDD1	NM_145886.4(PIDD1):c.2584C>T:p.Arg862Trp	coding	Pathogenic
11	799846	G	A	G799846A	PIDD1	NM_145886.4(PIDD1):c.2443C>T:p.Arg815Trp	coding	Pathogenic
11	800015	C	T	C800015T	PIDD1	NM_145886.4(PIDD1):c.2275-1G>A	coding	Pathogenic
11	801644	A	T	A801644T	PIDD1	NM_145886.4(PIDD1):c.1303-20T>A	noncoding	Benign
11	802902	T	G	T802902G	PIDD1	NM_145886.4(PIDD1):c.710-11A>C	noncoding	Benign
11	819464	T	G	T819464G	PNPLA2	NM_020376.4(PNPLA2):c.-145-110T>G	noncoding	Benign
11	823603	C	T	C823603T	PNPLA2	NM_020376.4(PNPLA2):c.757+16C>T	noncoding	Benign/Likely_benign
11	836008	T	C	T836008C	CD151	NM_004357.5(CD151):c.-7-55T>C	noncoding	Benign
11	836023	C	T	C836023T	CD151	NM_004357.5(CD151):c.-7-40C>T	noncoding	Benign
11	836166	C	T	C836166T	CD151	NM_004357.5(CD151):c.84+13C>T	noncoding	Benign/Likely_benign
11	836227	A	G	A836227G	CD151	NM_004357.5(CD151):c.85-24A>G	noncoding	Benign
11	836418	G	T	G836418T	CD151	NM_004357.5(CD151):c.252G>T:p.Lys84Asn	coding	Benign
11	836864	A	G	A836864G	CD151	NM_004357.5(CD151):c.351+21A>G	noncoding	Benign
11	836971	G	C	G836971C	CD151	NM_004357.5(CD151):c.351+128G>C	noncoding	Benign
11	837084	G	A	G837084A	CD151	NM_004357.5(CD151):c.352-166G>A	noncoding	Benign
11	837121	G	C	G837121C	CD151	NM_004357.5(CD151):c.352-129G>C	noncoding	Benign
11	837378	C	T	C837378T	CD151	NM_004357.5(CD151):c.456+24C>T	noncoding	Benign
11	837436	A	C	A837436C	CD151	NM_004357.5(CD151):c.457-24A>C	noncoding	Benign
11	837444	C	T	C837444T	CD151	NM_004357.5(CD151):c.457-16C>T	noncoding	Benign
11	837496	C	T	C837496T	CD151	NM_004357.5(CD151):c.493C>T:p.Arg165Ter	coding	Pathogenic
11	837582	G	A	G837582A	CD151	NM_004357.5(CD151):c.579G>A:p.Gly193=	coding	Benign
11	837772	C	T	C837772T	CD151	NM_004357.5(CD151):c.615+154C>T	noncoding	Benign
11	837913	C	T	C837913T	CD151	NM_004357.5(CD151):c.616-29C>T	noncoding	Benign
11	838110	C	T	C838110T	CD151	NM_004357.5(CD151):c.703-23C>T	noncoding	Benign
11	838115	A	G	A838115G	CD151	NM_004357.5(CD151):c.703-18A>G	noncoding	Benign
11	838419	A	G	A838419G	CD151	NM_004357.5(CD151):c.*227A>G	noncoding	Benign
11	838424	C	T	C838424T	CD151	NM_004357.5(CD151):c.*232C>T	noncoding	Benign
11	1222830	G	A	G1222830A	MUC5B	Single_allele	noncoding	Benign
11	1222850	C	G	C1222850G	MUC5B	Single_allele	noncoding	Benign
11	1222967	G	A	G1222967A	MUC5B	Single_allele	noncoding	Benign
11	1222989	T	C	T1222989C	MUC5B	Single_allele	noncoding	Benign
11	1226967	G	T	G1226967T	MUC5B	NM_002458.3(MUC5B):c.462-64G>T	noncoding	Benign
11	1227261	T	G	T1227261G	MUC5B	NM_002458.3(MUC5B):c.577-47T>G	noncoding	Benign
11	1227493	C	T	C1227493T	MUC5B	NM_002458.3(MUC5B):c.667+95C>T	noncoding	Benign
11	1227501	A	G	A1227501G	MUC5B	NM_002458.3(MUC5B):c.667+103A>G	noncoding	Benign
11	1228306	G	T	G1228306T	MUC5B	NM_002458.3(MUC5B):c.775-258G>T	noncoding	Benign
11	1228371	C	G	C1228371G	MUC5B	NM_002458.3(MUC5B):c.775-193C>G	noncoding	Benign
11	1228945	G	A	G1228945A	MUC5B	NM_002458.3(MUC5B):c.976+180G>A	noncoding	Benign
11	1228953	A	G	A1228953G	MUC5B	NM_002458.3(MUC5B):c.976+188A>G	noncoding	Benign
11	1228991	G	A	G1228991A	MUC5B	NM_002458.3(MUC5B):c.977-179G>A	noncoding	Benign
11	1229012	G	T	G1229012T	MUC5B	NM_002458.3(MUC5B):c.977-158G>T	noncoding	Benign
11	1229154	A	G	A1229154G	MUC5B	NM_002458.3(MUC5B):c.977-16A>G	noncoding	Benign
11	1229353	C	T	C1229353T	MUC5B	NM_002458.3(MUC5B):c.1102+58C>T	noncoding	Benign
11	1229373	G	C	G1229373C	MUC5B	NM_002458.3(MUC5B):c.1102+78G>C	noncoding	Benign
11	1229449	C	T	C1229449T	MUC5B	NM_002458.3(MUC5B):c.1102+154C>T	noncoding	Benign
11	1229466	C	T	C1229466T	MUC5B	NM_002458.3(MUC5B):c.1102+171C>T	noncoding	Benign
11	1229573	G	A	G1229573A	MUC5B	NM_002458.3(MUC5B):c.1103-117G>A	noncoding	Benign
11	1230817	T	C	T1230817C	MUC5B	NM_002458.3(MUC5B):c.1471-119T>C	noncoding	Benign
11	1231906	C	T	C1231906T	MUC5B	NM_002458.3(MUC5B):c.1679-90C>T	noncoding	Benign
11	1232626	T	C	T1232626C	MUC5B	NM_002458.3(MUC5B):c.1939-18T>C	noncoding	Benign
11	1232808	G	A	G1232808A	MUC5B	NM_002458.3(MUC5B):c.2065+38G>A	noncoding	Benign
11	1233369	T	C	T1233369C	MUC5B	NM_002458.3(MUC5B):c.2321+101T>C	noncoding	Benign
11	1233710	G	A	G1233710A	MUC5B	NM_002458.3(MUC5B):c.2322-83G>A	noncoding	Benign
11	1234887	G	A	G1234887A	MUC5B	NM_002458.3(MUC5B):c.2631-198G>A	noncoding	Benign
11	1236229	G	A	G1236229A	MUC5B	NM_002458.3(MUC5B):c.2881-157G>A	noncoding	Benign
11	1236637	T	C	T1236637C	MUC5B	NM_002458.3(MUC5B):c.3057+75T>C	noncoding	Benign
11	1236745	G	A	G1236745A	MUC5B	NM_002458.3(MUC5B):c.3058-180G>A	noncoding	Benign
11	1236831	C	T	C1236831T	MUC5B	NM_002458.3(MUC5B):c.3058-94C>T	noncoding	Benign
11	1240410	C	T	C1240410T	MUC5B	NM_002458.3(MUC5B):c.3970+35C>T	noncoding	Benign
11	1241082	G	A	G1241082A	MUC5B	NM_002458.3(MUC5B):c.4202G>A:p.Arg1401His	coding	Benign
11	1241295	C	T	C1241295T	MUC5B	NM_002458.3(MUC5B):c.4415C>T:p.Pro1472Leu	coding	Benign
11	1242293	G	A	G1242293A	MUC5B	NM_002458.3(MUC5B):c.5413G>A:p.Gly1805Ser	coding	Benign
11	1242457	C	T	C1242457T	MUC5B	NM_002458.3(MUC5B):c.5577C>T:p.Asn1859=	coding	Benign
11	1243578	T	G	T1243578G	MUC5B	NM_002458.3(MUC5B):c.6698T>G:p.Val2233Gly	coding	Benign
11	1243877	C	T	C1243877T	MUC5B	NM_002458.3(MUC5B):c.6997C>T:p.Pro2333Ser	coding	Benign
11	1244192	G	A	G1244192A	MUC5B	NM_002458.3(MUC5B):c.7312G>A:p.Glu2438Lys	coding	Benign
11	1245548	C	T	C1245548T	MUC5B	NM_002458.3(MUC5B):c.8668C>T:p.Pro2890Ser	coding	Benign
11	1246245	T	C	T1246245C	MUC5B	NM_002458.3(MUC5B):c.9365T>C:p.Met3122Thr	coding	Benign
11	1246272	C	T	C1246272T	MUC5B	NM_002458.3(MUC5B):c.9392C>T:p.Thr3131Met	coding	Benign
11	1247251	G	A	G1247251A	MUC5B	NM_002458.3(MUC5B):c.10371G>A:p.Arg3457=	coding	Benign
11	1248168	C	T	C1248168T	MUC5B	NM_002458.3(MUC5B):c.11288C>T:p.Thr3763Ile	coding	Benign
11	1249152	C	G	C1249152G	MUC5B	NM_002458.3(MUC5B):c.12272C>G:p.Thr4091Arg	coding	Benign
11	1250809	G	A	G1250809A	MUC5B	NM_002458.3(MUC5B):c.13929G>A:p.Pro4643=	coding	Benign
11	1251015	C	T	C1251015T	MUC5B	NM_002458.3(MUC5B):c.14135C>T:p.Thr4712Met	coding	Benign
11	1251479	G	A	G1251479A	MUC5B	NM_002458.3(MUC5B):c.14599G>A:p.Ala4867Thr	coding	Benign
11	1251524	A	G	A1251524G	MUC5B	NM_002458.3(MUC5B):c.14644A>G:p.Thr4882Ala	coding	Benign
11	1252603	T	C	T1252603C	MUC5B	NM_002458.3(MUC5B):c.15045+79T>C	noncoding	Benign
11	1253258	G	A	G1253258A	MUC5B	NM_002458.3(MUC5B):c.15217+278G>A	noncoding	Benign
11	1253788	C	A	C1253788A	MUC5B	NM_002458.3(MUC5B):c.15218-304C>A	noncoding	Benign
11	1253876	G	A	G1253876A	MUC5B	NM_002458.3(MUC5B):c.15218-216G>A	noncoding	Benign
11	1254422	C	T	C1254422T	MUC5B	NM_002458.3(MUC5B):c.15477+71C>T	noncoding	Benign
11	1257826	C	T	C1257826T	MUC5B	NM_002458.3(MUC5B):c.16450+116C>T	noncoding	Benign
11	1258256	A	G	A1258256G	MUC5B	NM_002458.3(MUC5B):c.16555+53A>G	noncoding	Benign
11	1259904	T	C	T1259904C	MUC5B	NM_002458.3(MUC5B):c.16801-59T>C	noncoding	Benign
11	1310024	G	C	G1310024C	TOLLIP	NR_029409.1(TOLLIP-DT):n.317G>C	noncoding	Benign
11	1390271	C	T	C1390271T	BRSK2	NM_001256627.2(BRSK2):c.-14C>T	noncoding	Benign
11	1443152	C	T	C1443152T	BRSK2	NM_001256627.2(BRSK2):c.564+13C>T	noncoding	Benign
11	1450261	C	T	C1450261T	BRSK2	NM_001256627.2(BRSK2):c.1288-326C>T	noncoding	Benign
11	1450353	G	A	G1450353A	BRSK2	NM_001256627.2(BRSK2):c.1288-234G>A	noncoding	Benign
11	1450522	G	A	G1450522A	BRSK2	NM_001256627.2(BRSK2):c.1288-65G>A	noncoding	Benign
11	1450530	C	G	C1450530G	BRSK2	NM_001256627.2(BRSK2):c.1288-57C>G	noncoding	Benign
11	1450676	G	A	G1450676A	BRSK2	NM_001256627.2(BRSK2):c.1377G>A:p.Thr459_Pro460=	coding	Benign
11	1456412	G	C	G1456412C	BRSK2	NM_001256627.2(BRSK2):c.1733G>C:p.Gly578Ala	coding	Benign
11	1456538	C	T	C1456538T	BRSK2	NM_001256627.2(BRSK2):c.1849+10C>T	noncoding	Benign
11	1460695	C	T	C1460695T	BRSK2	NM_001256627.2(BRSK2):c.2183C>T:p.Pro728Leu	coding	Benign
11	1460700	A	G	A1460700G	BRSK2	NM_001256627.2(BRSK2):c.2188A>G:p.Thr730Ala	coding	Benign
11	1754865	G	A	G1754865A	CTSD	NM_001909.5(CTSD):c.827+41C>T	noncoding	Benign
11	1757266	C	T	C1757266T	CTSD	NM_001909.5(CTSD):c.704+58G>A	noncoding	Benign
11	1757655	C	T	C1757655T	CTSD	NM_001909.5(CTSD):c.472-99G>A	noncoding	Benign
11	1757755	G	A	G1757755A	CTSD	NM_001909.5(CTSD):c.472-199C>T	noncoding	Benign
11	1759624	C	A	C1759624A	CTSD	NM_001909.5(CTSD):c.244G>T:p.Glu82Ter	coding	Pathogenic
11	1761176	G	C	G1761176C	CTSD	NM_001909.5(CTSD):c.228+133C>G	noncoding	Benign
11	1761531	T	C	T1761531C	CTSD	NM_001909.5(CTSD):c.69-63A>G	noncoding	Benign
11	1764065	C	G	C1764065G	CTSD	Single_allele	noncoding	Benign
11	1839074	G	A	G1839074A	TNNI2	NM_003282.4(TNNI2):c.-23+41G>A	noncoding	Benign
11	1839194	G	C	G1839194C	TNNI2	NM_003282.4(TNNI2):c.-23+161G>C	noncoding	Benign
11	1839995	C	A	C1839995A	TNNI2	NM_003282.4(TNNI2):c.15+140C>A	noncoding	Benign
11	1841786	C	T	C1841786T	TNNI2	Single_allele	noncoding	Benign
11	1922639	C	T	C1922639T	TNNT3	NM_006757.4(TNNT3):c.-18-218C>T	noncoding	Benign
11	1922972	A	G	A1922972G	TNNT3	NM_006757.4(TNNT3):c.18-76A>G	noncoding	Benign
11	1923406	A	T	A1923406T	TNNT3	NM_006757.4(TNNT3):c.32-149A>T	noncoding	Benign
11	1923844	C	G	C1923844G	TNNT3	NM_006757.4(TNNT3):c.49+272C>G	noncoding	Benign
11	1924862	C	T	C1924862T	TNNT3	NM_006757.4(TNNT3):c.50-237C>T	noncoding	Benign
11	1924989	C	T	C1924989T	TNNT3	NM_006757.4(TNNT3):c.50-110C>T	noncoding	Benign
11	1925300	T	G	T1925300G	TNNT3	NM_006757.4(TNNT3):c.67+184T>G	noncoding	Benign
11	1926195	C	G	C1926195G	TNNT3	NM_006757.4(TNNT3):c.68-500C>G	noncoding	Benign
11	1926345	C	A	C1926345A	TNNT3	NM_006757.4(TNNT3):c.68-350C>A	noncoding	Benign
11	1926448	G	A	G1926448A	TNNT3	NM_006757.4(TNNT3):c.68-247G>A	noncoding	Benign
11	1926559	G	A	G1926559A	TNNT3	NM_006757.4(TNNT3):c.68-136G>A	noncoding	Benign
11	1926563	C	T	C1926563T	TNNT3	NM_006757.4(TNNT3):c.68-132C>T	noncoding	Benign
11	1926570	C	G	C1926570G	TNNT3	NM_006757.4(TNNT3):c.68-125C>G	noncoding	Benign
11	1926679	G	T	G1926679T	TNNT3	NM_006757.4(TNNT3):c.68-16G>T	noncoding	Benign
11	1926956	T	C	T1926956C	TNNT3	NM_006757.4(TNNT3):c.82+247T>C	noncoding	Benign
11	1928807	G	A	G1928807A	TNNT3	NM_006757.4(TNNT3):c.83-313G>A	noncoding	Benign
11	1929306	G	T	G1929306T	TNNT3	NM_006757.4(TNNT3):c.106+163G>T	noncoding	Benign
11	1929358	A	G	A1929358G	TNNT3	NM_006757.4(TNNT3):c.106+215A>G	noncoding	Benign
11	1929361	T	C	T1929361C	TNNT3	NM_006757.4(TNNT3):c.106+218T>C	noncoding	Benign
11	1929417	G	A	G1929417A	TNNT3	NM_006757.4(TNNT3):c.106+274G>A	noncoding	Benign
11	1929676	T	G	T1929676G	TNNT3	NM_006757.4(TNNT3):c.107-134T>G	noncoding	Benign
11	1929693	G	A	G1929693A	TNNT3	NM_006757.4(TNNT3):c.107-117G>A	noncoding	Benign
11	1929695	T	C	T1929695C	TNNT3	NM_006757.4(TNNT3):c.107-115T>C	noncoding	Benign
11	1929884	T	C	T1929884C	TNNT3	NM_006757.4(TNNT3):c.125+56T>C	noncoding	Benign
11	1932458	C	G	C1932458G	TNNT3	NM_006757.4(TNNT3):c.126-11C>G	noncoding	Benign
11	1933562	A	C	A1933562C	TNNT3	NM_006757.4(TNNT3):c.172-159A>C	noncoding	Benign
11	1933774	C	T	C1933774T	TNNT3	NM_006757.4(TNNT3):c.225C>T:p.Ile75=	coding	Benign
11	1934147	C	A	C1934147A	TNNT3	NM_006757.4(TNNT3):c.366+139C>A	noncoding	Benign
11	1934541	T	C	T1934541C	TNNT3	NM_006757.4(TNNT3):c.481-5T>C	noncoding	Benign
11	1934880	G	A	G1934880A	TNNT3	NM_006757.4(TNNT3):c.642G>A:p.Lys214=	coding	Benign
11	1934982	T	C	T1934982C	TNNT3	NM_006757.4(TNNT3):c.681+63T>C	noncoding	Benign
11	1935108	G	C	G1935108C	TNNT3	NM_006757.4(TNNT3):c.681+189G>C	noncoding	Benign
11	1935112	G	T	G1935112T	TNNT3	NM_006757.4(TNNT3):c.681+193G>T	noncoding	Benign
11	1935135	G	A	G1935135A	TNNT3	NM_006757.4(TNNT3):c.681+216G>A	noncoding	Benign
11	1936016	C	T	C1936016T	TNNT3	NM_006757.4(TNNT3):c.682-947C>T	noncoding	Benign
11	1936560	T	C	T1936560C	TNNT3	NM_006757.4(TNNT3):c.682-403T>C	noncoding	Benign
11	1936564	G	A	G1936564A	TNNT3	NM_006757.4(TNNT3):c.682-399G>A	noncoding	Benign
11	1936651	G	A	G1936651A	TNNT3	NM_006757.4(TNNT3):c.682-312G>A	noncoding	Benign
11	1936871	C	T	C1936871T	TNNT3	NM_006757.4(TNNT3):c.682-92C>T	noncoding	Benign
11	1937018	C	A	C1937018A	TNNT3	NM_006757.4(TNNT3):c.722+15C>A	noncoding	Benign
11	1938423	G	C	G1938423C	TNNT3	NM_006757.4(TNNT3):c.723-15G>C	noncoding	Benign/Likely_benign
11	1938436	A	G	A1938436G	TNNT3	NM_006757.4(TNNT3):c.723-2A>G	noncoding	Pathogenic
11	2133089	C	T	C2133089T	IGF2	NM_000612.6(IGF2):c.441G>A:p.Glu147=	coding	Benign
11	2135531	T	A	T2135531A	IGF2	NM_000612.6(IGF2):c.-6-2A>T	noncoding	Pathogenic
11	2159542	C	T	C2159542T	INS	NM_001042376.3(INS-IGF2):c.187+1243G>A	noncoding	Benign
11	2159566	C	A	C2159566A	INS	NM_001042376.3(INS-IGF2):c.187+1219G>T	noncoding	Benign
11	2159615	G	A	G2159615A	INS	NM_001042376.3(INS-IGF2):c.187+1170C>T	noncoding	Benign
11	2160108	G	A	G2160108A	INS	NM_000207.3(INS):c.188-111C>T	noncoding	Benign
11	2160165	C	G	C2160165G	INS	NM_000207.3(INS):c.188-168G>C	noncoding	Benign
11	2160971	T	C	T2160971C	INS	NM_000207.3(INS):c.1A>G:p.Met1Val	coding	Pathogenic
11	2161130	T	C	T2161130C	INS	NM_000207.3(INS):c.-18+38A>G	noncoding	Benign
11	2161265	C	G	C2161265G	INS	Single_allele	noncoding	Benign
11	2163897	C	G	C2163897G	TH	Single_allele	noncoding	Benign
11	2164345	G	A	G2164345A	TH	NM_000360.4(TH):c.1382C>T:p.Pro461Leu	coding	Pathogenic/Likely_pathogenic
11	2164373	G	A	G2164373A	TH	NM_000360.4(TH):c.1354C>T:p.Gln452Ter	coding	Pathogenic
11	2165105	A	G	A2165105G	TH	NM_000360.4(TH):c.1334+127T>C	noncoding	Benign
11	2165284	G	A	G2165284A	TH	NM_000360.4(TH):c.1282C>T:p.Gln428Ter	coding	Pathogenic/Likely_pathogenic
11	2165585	T	A	T2165585A	TH	NM_000360.4(TH):c.1200+83A>T	noncoding	Benign
11	2165615	C	T	C2165615T	TH	NM_000360.4(TH):c.1200+53G>A	noncoding	Benign
11	2165679	C	T	C2165679T	TH	NM_000360.4(TH):c.1189G>A:p.Gly397Arg	coding	Pathogenic/Likely_pathogenic
11	2165727	G	T	G2165727T	TH	NM_000360.4(TH):c.1141C>A:p.Gln381Lys	coding	Pathogenic/Likely_pathogenic
11	2165730	T	A	T2165730A	TH	NM_000360.4(TH):c.1138A>T:p.Lys380Ter	coding	Pathogenic
11	2165777	G	A	G2165777A	TH	NM_000360.4(TH):c.1105-14C>T	noncoding	Benign
11	2165841	T	C	T2165841C	TH	NM_000360.4(TH):c.1105-78A>G	noncoding	Benign
11	2166168	T	G	T2166168G	TH	NM_000360.4(TH):c.1048-110A>C	noncoding	Benign
11	2166209	C	A	C2166209A	TH	NM_000360.4(TH):c.1048-151G>T	noncoding	Benign
11	2166212	C	A	C2166212A	TH	NM_000360.4(TH):c.1048-154G>T	noncoding	Benign
11	2166225	T	G	T2166225G	TH	NM_000360.4(TH):c.1048-167A>C	noncoding	Benign
11	2166247	C	T	C2166247T	TH	NM_000360.4(TH):c.1048-189G>A	noncoding	Benign
11	2166252	C	G	C2166252G	TH	NM_000360.4(TH):c.1048-194G>C	noncoding	Benign
11	2166464	C	T	C2166464T	TH	NM_000360.4(TH):c.1047+16G>A	noncoding	Benign
11	2166760	C	T	C2166760T	TH	NM_000360.4(TH):c.850G>A:p.Gly284Ser	coding	Pathogenic/Likely_pathogenic
11	2167004	G	A	G2167004A	TH	NM_000360.4(TH):c.724C>T:p.Leu242Phe	coding	Pathogenic
11	2167158	G	C	G2167158C	TH	NM_000360.4(TH):c.696-126C>G	noncoding	Benign
11	2167170	C	T	C2167170T	TH	NM_000360.4(TH):c.696-138G>A	noncoding	Benign
11	2167206	A	G	A2167206G	TH	NM_000360.4(TH):c.696-174T>C	noncoding	Benign
11	2167336	C	T	C2167336T	TH	NM_000360.4(TH):c.695+99G>A	noncoding	Benign
11	2167851	G	A	G2167851A	TH	NM_000360.4(TH):c.644+15C>T	noncoding	Benign
11	2167851	G	T	G2167851T	TH	NM_000360.4(TH):c.644+15C>A	noncoding	Benign
11	2167926	G	T	G2167926T	TH	NM_000360.4(TH):c.584C>A:p.Ser195Ter	coding	Pathogenic
11	2168078	G	A	G2168078A	TH	NM_000360.4(TH):c.576+13C>T	noncoding	Benign
11	2169670	G	A	G2169670A	TH	NM_000360.4(TH):c.292C>T:p.Arg98Ter	coding	Pathogenic/Likely_pathogenic
11	2169681	G	T	G2169681T	TH	NM_000360.4(TH):c.281C>A:p.Ser94Ter	coding	Pathogenic
11	2169924	C	A	C2169924A	TH	NM_000360.4(TH):c.91-53G>T	noncoding	Benign
11	2169925	T	C	T2169925C	TH	NM_000360.4(TH):c.91-54A>G	noncoding	Benign
11	2170153	C	G	C2170153G	TH	NM_000360.4(TH):c.91-282G>C	noncoding	Benign
11	2170479	C	T	C2170479T	TH	NM_000360.4(TH):c.91-608G>A	noncoding	Benign
11	2171568	C	T	C2171568T	TH	NM_000360.4(TH):c.90+129G>A	noncoding	Benign
11	2171771	C	T	C2171771T	TH	NM_000360.4(TH):c.16G>A:p.Ala6Thr	coding	Benign
11	2171857	G	A	G2171857A	TH	NM_199292.3(TH):c.-71C>T	noncoding	Pathogenic/Likely_pathogenic
11	2172367	C	T	C2172367T	TH	NC_000011.9:g.2193597C>T	noncoding	Benign
11	2172610	A	G	A2172610G	TH	NC_000011.9:g.2193840A>G	noncoding	Benign
11	2377192	T	C	T2377192C	CD81	NM_001297649.2(CD81):c.-148+835T>C	noncoding	Benign
11	2390138	G	A	G2390138A	CD81	NM_004356.4(CD81):c.67-274G>A	noncoding	Benign
11	2390306	C	T	C2390306T	CD81	NM_004356.4(CD81):c.67-106C>T	noncoding	Benign
11	2390397	C	T	C2390397T	CD81	NM_004356.4(CD81):c.67-15C>T	noncoding	Benign
11	2390399	C	T	C2390399T	CD81	NM_004356.4(CD81):c.67-13C>T	noncoding	Benign
11	2390423	C	A	C2390423A	CD81	NM_004356.4(CD81):c.78C>A:p.Gly26=	coding	Benign
11	2390766	T	C	T2390766C	CD81	NM_004356.4(CD81):c.181+240T>C	noncoding	Benign
11	2394135	C	T	C2394135T	CD81	NM_004356.4(CD81):c.222C>T:p.Phe74=	coding	Benign
11	2394207	C	T	C2394207T	CD81	NM_004356.4(CD81):c.279+15C>T	noncoding	Benign
11	2394734	G	A	G2394734A	CD81	NM_004356.4(CD81):c.280-238G>A	noncoding	Benign
11	2394756	G	A	G2394756A	CD81	NM_004356.4(CD81):c.280-216G>A	noncoding	Benign
11	2394888	G	A	G2394888A	CD81	NM_004356.4(CD81):c.280-84G>A	noncoding	Benign
11	2394980	C	T	C2394980T	CD81	NM_004356.4(CD81):c.288C>T:p.Thr96=	coding	Benign
11	2395654	T	G	T2395654G	CD81	NM_004356.4(CD81):c.459+134T>G	noncoding	Benign
11	2395668	C	T	C2395668T	CD81	NM_004356.4(CD81):c.459+148C>T	noncoding	Benign
11	2395692	G	C	G2395692C	CD81	NM_004356.4(CD81):c.459+172G>C	noncoding	Benign
11	2396040	G	T	G2396040T	CD81	NM_004356.4(CD81):c.561+70G>T	noncoding	Benign
11	2396293	A	G	A2396293G	CD81	NM_004356.4(CD81):c.561+323A>G	noncoding	Benign
11	2396705	T	C	T2396705C	CD81	NM_004356.4(CD81):c.639T>C:p.Ala213=	coding	Benign
11	2396741	C	T	C2396741T	CD81	NM_004356.4(CD81):c.648+27C>T	noncoding	Benign
11	2397107	A	G	A2397107G	CD81	NM_004356.4(CD81):c.*241A>G	noncoding	Benign
11	2444986	C	A	C2444986A	KCNQ1	Single_allele	noncoding	Benign
11	2445400	T	A	T2445400A	KCNQ1	NM_000218.3(KCNQ1):c.302T>A:p.Leu101Ter	coding	Pathogenic
11	2445457	G	A	G2445457A	KCNQ1	NM_000218.3(KCNQ1):c.359G>A:p.Trp120Ter	coding	Pathogenic
11	2461525	T	C	T2461525C	KCNQ1	NM_000218.3(KCNQ1):c.386+16041T>C	coding	Benign
11	2461549	C	T	C2461549T	KCNQ1	NM_000218.3(KCNQ1):c.386+16065C>T	coding	Benign
11	2461550	G	A	G2461550A	KCNQ1	NM_000218.3(KCNQ1):c.386+16066G>A	coding	Benign
11	2461594	G	A	G2461594A	KCNQ1	NM_000218.3(KCNQ1):c.386+16110G>A	coding	Benign
11	2477948	G	A	G2477948A	KCNQ1	NM_000218.3(KCNQ1):c.386+32464G>A	noncoding	Benign
11	2527831	G	C	G2527831C	KCNQ1	NM_000218.3(KCNQ1):c.387-97G>C	noncoding	Benign
11	2527877	T	C	T2527877C	KCNQ1	NM_000218.3(KCNQ1):c.387-51T>C	noncoding	Benign
11	2528020	T	C	T2528020C	KCNQ1	NM_000218.3(KCNQ1):c.477+2T>C	noncoding	Pathogenic
11	2531539	G	A	G2531539A	KCNQ1	NM_000218.3(KCNQ1):c.477+3521G>A	noncoding	Benign
11	2532919	A	G	A2532919G	KCNQ1	NM_000218.3(KCNQ1):c.477+4901A>G	noncoding	Benign
11	2570437	G	A	G2570437A	KCNQ1	NM_000218.3(KCNQ1):c.478-191G>A	noncoding	Benign
11	2570608	G	A	G2570608A	KCNQ1	NM_000218.3(KCNQ1):c.478-20G>A	noncoding	Benign/Likely_benign
11	2570633	C	A	C2570633A	KCNQ1	NM_000218.3(KCNQ1):c.483C>A:p.Ile161_Val162=	coding	Benign/Likely_benign
11	2570668	T	A	T2570668A	KCNQ1	NM_000218.3(KCNQ1):c.518T>A:p.Val173Asp	coding	Pathogenic
11	2570685	G	A	G2570685A	KCNQ1	NM_000218.3(KCNQ1):c.535G>A:p.Gly179Ser	coding	Pathogenic
11	2570696	C	T	C2570696T	KCNQ1	NM_000218.3(KCNQ1):c.546C>T:p.Ser182_Lys183=	coding	Benign
11	2570718	C	T	C2570718T	KCNQ1	NM_000218.3(KCNQ1):c.568C>T:p.Arg190Trp	coding	Pathogenic/Likely_pathogenic
11	2571323	A	G	A2571323G	KCNQ1	NM_000218.3(KCNQ1):c.605-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	2571362	C	A	C2571362A	KCNQ1	NM_000218.3(KCNQ1):c.642C>A:p.Cys214Ter	coding	Pathogenic/Likely_pathogenic
11	2571362	C	T	C2571362T	KCNQ1	NM_000218.3(KCNQ1):c.642C>T:p.Cys214_Val215=	coding	Benign/Likely_benign
11	2571391	C	T	C2571391T	KCNQ1	NM_000218.3(KCNQ1):c.671C>T:p.Thr224Met	coding	Pathogenic/Likely_pathogenic
11	2571398	C	G	C2571398G	KCNQ1	NM_000218.3(KCNQ1):c.678C>G:p.Ala226_Ile227=	coding	Benign/Likely_benign
11	2571404	G	A	G2571404A	KCNQ1	NM_000218.3(KCNQ1):c.683+1G>A	coding	Pathogenic/Likely_pathogenic
11	2571955	C	T	C2571955T	KCNQ1	NM_000218.3(KCNQ1):c.684-58C>T	noncoding	Benign
11	2572029	C	T	C2572029T	KCNQ1	NM_000218.3(KCNQ1):c.700C>T:p.Gln234Ter	coding	Pathogenic
11	2572186	A	G	A2572186G	KCNQ1	NM_000218.3(KCNQ1):c.780+77A>G	noncoding	Benign
11	2572747	A	G	A2572747G	KCNQ1	NM_000218.3(KCNQ1):c.781-99A>G	noncoding	Benign
11	2572848	G	C	G2572848C	KCNQ1	NM_000218.3(KCNQ1):c.783G>C:p.Glu261Asp	coding	Pathogenic
11	2572923	C	T	C2572923T	KCNQ1	NM_000218.3(KCNQ1):c.858C>T:p.Asp286_Ala287=	coding	Benign/Likely_benign
11	2572953	C	T	C2572953T	KCNQ1	NM_000218.3(KCNQ1):c.888C>T:p.Phe296_Gly297=	coding	Benign/Likely_benign
11	2572962	C	T	C2572962T	KCNQ1	NM_000218.3(KCNQ1):c.897C>T:p.Tyr299_Ala300=	coding	Benign/Likely_benign
11	2572970	C	T	C2572970T	KCNQ1	NM_000218.3(KCNQ1):c.905C>T:p.Ala302Val	coding	Pathogenic/Likely_pathogenic
11	2573003	C	T	C2573003T	KCNQ1	NM_000218.3(KCNQ1):c.921+17C>T	noncoding	Benign/Likely_benign
11	2583454	G	A	G2583454A	KCNQ1	NM_000218.3(KCNQ1):c.941G>A:p.Gly314Asp	coding	Pathogenic
11	2583471	C	T	C2583471T	KCNQ1	NM_000218.3(KCNQ1):c.958C>T:p.Pro320Ser	coding	Pathogenic/Likely_pathogenic
11	2583472	C	A	C2583472A	KCNQ1	NM_000218.3(KCNQ1):c.959C>A:p.Pro320His	coding	Pathogenic
11	2583481	G	A	G2583481A	KCNQ1	NM_000218.3(KCNQ1):c.968G>A:p.Trp323Ter	coding	Pathogenic
11	2583497	C	T	C2583497T	KCNQ1	NM_000218.3(KCNQ1):c.984C>T:p.Ile328_Ala329=	coding	Benign/Likely_benign
11	2583540	C	T	C2583540T	KCNQ1	NM_000218.3(KCNQ1):c.1027C>T:p.Pro343Ser	coding	Pathogenic
11	2583560	G	A	G2583560A	KCNQ1	NM_000218.3(KCNQ1):c.1032+15G>A	noncoding	Benign
11	2585197	T	A	T2585197A	KCNQ1	NM_000218.3(KCNQ1):c.1033-15T>A	noncoding	Benign/Likely_benign
11	2585271	C	T	C2585271T	KCNQ1	NM_000218.3(KCNQ1):c.1092C>T:p.Phe364_Asn365=	coding	Benign
11	2585278	C	T	C2585278T	KCNQ1	NM_000218.3(KCNQ1):c.1099C>T:p.Gln367Ter	coding	Pathogenic
11	2585309	T	A	T2585309A	KCNQ1	NM_000218.3(KCNQ1):c.1128+2T>A	noncoding	Pathogenic/Likely_pathogenic
11	2585320	C	A	C2585320A	KCNQ1	NM_000218.3(KCNQ1):c.1128+13C>A	noncoding	Benign/Likely_benign
11	2587615	T	C	T2587615C	KCNQ1	NM_000218.3(KCNQ1):c.1174T>C:p.Trp392Arg	coding	Pathogenic/Likely_pathogenic
11	2588525	C	T	C2588525T	KCNQ1	NM_000218.3(KCNQ1):c.1252-188C>T	noncoding	Benign
11	2588781	C	G	C2588781G	KCNQ1	NM_000218.3(KCNQ1):c.1320C>G:p.Val440_Pro441=	coding	Benign/Likely_benign
11	2588817	G	T	G2588817T	KCNQ1	NM_000218.3(KCNQ1):c.1356G>T:p.Arg452_Leu453=	coding	Benign/Likely_benign
11	2609499	G	C	G2609499C	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1393+20645G>C	coding	Benign
11	2610111	T	C	T2610111C	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1393+21257T>C	coding	Benign
11	2613343	C	T	C2613343T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1393+24489C>T	coding	Benign
11	2613576	T	C	T2613576C	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1393+24722T>C	coding	Benign
11	2650934	T	A	T2650934A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-11027T>A	coding	Benign
11	2651113	C	G	C2651113G	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-10848C>G	coding	Benign
11	2651869	T	G	T2651869G	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-10092T>G	coding	Benign
11	2654559	G	A	G2654559A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-7402G>A	coding	Benign
11	2655582	G	A	G2655582A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-6379G>A	coding	Benign
11	2656155	C	A	C2656155A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-5806C>A	coding	Benign
11	2656413	C	T	C2656413T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-5548C>T	coding	Benign
11	2656446	T	C	T2656446C	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-5515T>C	coding	Benign
11	2658251	T	C	T2658251C	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-3710T>C	coding	Benign
11	2659139	A	G	A2659139G	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-2822A>G	coding	Benign
11	2659461	G	A	G2659461A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-2500G>A	coding	Benign
11	2660158	G	A	G2660158A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-1803G>A	coding	Benign
11	2660175	T	A	T2660175A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-1786T>A	coding	Benign
11	2660389	T	A	T2660389A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-1572T>A	coding	Benign
11	2660569	C	T	C2660569T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-1392C>T	coding	Benign
11	2661415	T	C	T2661415C	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-546T>C	coding	Benign
11	2661943	C	G	C2661943G	KCNQ1	NM_000218.3(KCNQ1):c.1394-18C>G	coding	Benign
11	2662127	A	G	A2662127G	KCNQ1	NM_000218.3(KCNQ1):c.1514+46A>G	coding	Benign
11	2662222	C	A	C2662222A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+141C>A	coding	Benign
11	2662372	C	G	C2662372G	KCNQ1	NM_000218.3(KCNQ1):c.1514+291C>G	coding	Benign
11	2662704	G	A	G2662704A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+623G>A	coding	Benign
11	2662815	C	T	C2662815T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+734C>T	coding	Benign
11	2662818	G	A	G2662818A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+737G>A	coding	Benign
11	2663162	C	T	C2663162T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+1081C>T	coding	Benign
11	2664712	G	T	G2664712T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+2631G>T	coding	Benign
11	2665278	C	G	C2665278G	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+3197C>G	coding	Benign
11	2665458	G	A	G2665458A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+3377G>A	coding	Benign
11	2666045	C	T	C2666045T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+3964C>T	coding	Benign
11	2666184	G	A	G2666184A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+4103G>A	coding	Benign
11	2666574	A	T	A2666574T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+4493A>T	coding	Benign
11	2667055	G	A	G2667055A	KCNQ1	NM_000218.3(KCNQ1):c.1514+4974G>A	coding	Benign/Likely_benign
11	2667156	T	C	T2667156C	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+5075T>C	coding	Benign
11	2667578	G	A	G2667578A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+5497G>A	coding	Benign
11	2668616	T	A	T2668616A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+6535T>A	coding	Benign
11	2668687	T	G	T2668687G	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+6606T>G	coding	Benign
11	2670014	G	T	G2670014T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+7933G>T	coding	Benign
11	2670094	G	T	G2670094T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+8013G>T	coding	Benign
11	2670241	A	G	A2670241G	KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+8160A>G	coding	Benign
11	2670976	C	T	C2670976T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+8895C>T	coding	Benign
11	2671805	A	G	A2671805G	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+9724A>G	coding	Benign
11	2672058	C	G	C2672058G	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+9977C>G	coding	Benign
11	2672661	T	C	T2672661C	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+10580T>C	coding	Benign
11	2673058	G	A	G2673058A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+10977G>A	coding	Benign
11	2679458	T	C	T2679458C	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+17377T>C	coding	Benign
11	2682010	G	C	G2682010C	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+19929G>C	coding	Benign
11	2682085	C	T	C2682085T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+20004C>T	coding	Benign
11	2686342	G	C	G2686342C	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+24261G>C	coding	Benign
11	2687165	C	T	C2687165T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+25084C>T	coding	Benign
11	2687885	G	A	G2687885A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+25804G>A	coding	Benign
11	2688194	G	A	G2688194A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+26113G>A	coding	Benign
11	2688952	T	C	T2688952C	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+26871T>C	coding	Benign
11	2689685	G	C	G2689685C	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+27604G>C	coding	Benign
11	2689998	G	T	G2689998T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+27917G>T	coding	Benign
11	2691741	G	A	G2691741A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+29660G>A	coding	Benign
11	2691879	G	A	G2691879A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+29798G>A	coding	Benign
11	2692644	C	A	C2692644A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+30563C>A	coding	Benign
11	2692950	G	A	G2692950A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+30869G>A	coding	Benign
11	2693171	T	C	T2693171C	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+31090T>C	coding	Benign
11	2696334	G	A	G2696334A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+34253G>A	coding	Benign
11	2699763	G	A	G2699763A	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+37682G>A	coding	Benign
11	2768725	A	G	A2768725G	KCNQ1	NM_000218.3(KCNQ1):c.1515-119A>G	noncoding	Benign
11	2768789	G	A	G2768789A	KCNQ1	NM_000218.3(KCNQ1):c.1515-55G>A	noncoding	Benign
11	2768900	T	G	T2768900G	KCNQ1	NM_000218.3(KCNQ1):c.1571T>G:p.Val524Gly	coding	Pathogenic/Likely_pathogenic
11	2768920	G	A	G2768920A	KCNQ1	NM_000218.3(KCNQ1):c.1590+1G>A	coding	Pathogenic
11	2775941	G	A	G2775941A	KCNQ1	NM_000218.3(KCNQ1):c.1591-19G>A	noncoding	Benign/Likely_benign
11	2775959	G	A	G2775959A	KCNQ1	NM_000218.3(KCNQ1):c.1591-1G>A	noncoding	Pathogenic/Likely_pathogenic
11	2776062	C	T	C2776062T	KCNQ1	NM_000218.3(KCNQ1):c.1685+8C>T	noncoding	Benign/Likely_benign
11	2776090	A	G	A2776090G	KCNQ1	NM_000218.3(KCNQ1):c.1685+36A>G	noncoding	Benign
11	2776200	G	C	G2776200C	KCNQ1	NM_000218.3(KCNQ1):c.1685+146G>C	noncoding	Benign
11	2776210	G	C	G2776210C	KCNQ1	NM_000218.3(KCNQ1):c.1685+156G>C	noncoding	Benign
11	2776997	C	T	C2776997T	KCNQ1	NM_000218.3(KCNQ1):c.1697C>T:p.Ser566Phe	coding	Pathogenic/Likely_pathogenic
11	2777016	G	A	G2777016A	KCNQ1	NM_000218.3(KCNQ1):c.1716G>A:p.Leu572_Phe573=	coding	Benign/Likely_benign
11	2777022	C	T	C2777022T	KCNQ1	NM_000218.3(KCNQ1):c.1722C>T:p.Ile574_Ser575=	coding	Benign
11	2777030	C	G	C2777030G	KCNQ1	NM_000218.3(KCNQ1):c.1730C>G:p.Ser577Ter	coding	Pathogenic
11	2777075	T	C	T2777075C	KCNQ1	NM_000218.3(KCNQ1):c.1732+43T>C	noncoding	Benign
11	2777923	T	C	T2777923C	KCNQ1	NM_000218.3(KCNQ1):c.1733-53T>C	noncoding	Benign
11	2777959	T	G	T2777959G	KCNQ1	NM_000218.3(KCNQ1):c.1733-17T>G	noncoding	Benign
11	2777974	A	G	A2777974G	KCNQ1	NM_000218.3(KCNQ1):c.1733-2A>G	noncoding	Pathogenic
11	2778069	G	T	G2778069T	KCNQ1	NM_000218.3(KCNQ1):c.1794+32G>T	noncoding	Benign
11	2847518	A	G	A2847518G	KCNQ1	NM_000218.3(KCNQ1):c.1795-249A>G	noncoding	Benign
11	2847638	G	A	G2847638A	KCNQ1	NM_000218.3(KCNQ1):c.1795-129G>A	noncoding	Benign
11	2885132	C	A	C2885132A	CDKN1C	NM_001122630.2(CDKN1C):c.325G>T:p.Glu109Ter	coding	Pathogenic
11	2885213	C	A	C2885213A	CDKN1C	NM_001122630.2(CDKN1C):c.244G>T:p.Glu82Ter	coding	Pathogenic
11	2885253	C	T	C2885253T	CDKN1C	NM_001122630.2(CDKN1C):c.204G>A:p.Trp68Ter	coding	Pathogenic
11	2885254	C	T	C2885254T	CDKN1C	NM_001122630.2(CDKN1C):c.203G>A:p.Trp68Ter	coding	Pathogenic
11	2885258	G	A	G2885258A	CDKN1C	NM_001122630.2(CDKN1C):c.199C>T:p.Gln67Ter	coding	Pathogenic
11	2885324	C	A	C2885324A	CDKN1C	NM_001122630.2(CDKN1C):c.133G>T:p.Glu45Ter	coding	Pathogenic
11	2885400	G	T	G2885400T	CDKN1C	NM_001122630.2(CDKN1C):c.57C>A:p.Cys19Ter	coding	Pathogenic
11	3165196	C	G	C3165196G	OSBPL5	NM_020896.4(OSBPL5):c.-22+20G>C	noncoding	Benign
11	3679613	A	G	A3679613G	NUP98	NM_016320.5(NUP98):c.5014T>C:p.Ser1672Pro	coding	Benign
11	3798037	C	T	C3798037T	PGAP2	NM_001145438.2(PGAP2):c.139+55C>T	coding	Benign
11	3798189	T	A	T3798189A	PGAP2	NM_001145438.2(PGAP2):c.139+207T>A	noncoding	Benign
11	3807993	A	C	A3807993C	PGAP2	NM_001145438.2(PGAP2):c.140-301A>C	noncoding	Benign
11	3807994	C	T	C3807994T	PGAP2	NM_001145438.2(PGAP2):c.140-300C>T	noncoding	Benign
11	3808189	G	C	G3808189C	PGAP2	NM_001145438.2(PGAP2):c.140-105G>C	noncoding	Benign
11	3808632	C	G	C3808632G	PGAP2	NM_014489.4(PGAP2):c.-30C>G	coding	Benign
11	3811027	G	T	G3811027T	PGAP2	NM_014489.4(PGAP2):c.-10-223G>T	noncoding	Benign
11	3817132	G	A	G3817132A	PGAP2	NM_014489.4(PGAP2):c.166-221G>A	noncoding	Benign
11	3817259	C	T	C3817259T	PGAP2	NM_014489.4(PGAP2):c.166-94C>T	noncoding	Benign
11	3817582	T	C	T3817582C	PGAP2	NM_014489.4(PGAP2):c.348+47T>C	noncoding	Benign
11	3817669	A	T	A3817669T	PGAP2	NM_014489.4(PGAP2):c.348+134A>T	noncoding	Benign
11	3817680	G	C	G3817680C	PGAP2	NM_014489.4(PGAP2):c.348+145G>C	noncoding	Benign
11	3817723	T	C	T3817723C	PGAP2	NM_014489.4(PGAP2):c.348+188T>C	noncoding	Benign
11	3823081	A	G	A3823081G	PGAP2	NM_014489.4(PGAP2):c.349-802A>G	noncoding	Benign
11	3823138	A	G	A3823138G	PGAP2	NM_014489.4(PGAP2):c.349-745A>G	noncoding	Benign
11	3823177	G	A	G3823177A	PGAP2	NM_014489.4(PGAP2):c.349-706G>A	noncoding	Benign
11	3855664	A	G	A3855664G	STIM1	NM_001382567.1(STIM1):c.-607A>G	noncoding	Benign
11	3855844	C	T	C3855844T	STIM1	NM_001382567.1(STIM1):c.-427C>T	noncoding	Benign
11	3967761	C	A	C3967761A	STIM1	NM_001382567.1(STIM1):c.270+79C>A	noncoding	Benign
11	3967895	G	C	G3967895C	STIM1	NM_001382567.1(STIM1):c.270+213G>C	noncoding	Benign
11	3967952	G	A	G3967952A	STIM1	NM_001382567.1(STIM1):c.270+270G>A	noncoding	Benign
11	3967996	C	G	C3967996G	STIM1	NM_001382567.1(STIM1):c.270+314C>G	noncoding	Benign
11	4024130	A	T	A4024130T	STIM1	NM_001382567.1(STIM1):c.385+143A>T	noncoding	Benign
11	4024185	G	A	G4024185A	STIM1	NM_001382567.1(STIM1):c.385+198G>A	noncoding	Benign
11	4024237	G	C	G4024237C	STIM1	NM_001382567.1(STIM1):c.385+250G>C	noncoding	Benign
11	4024296	T	G	T4024296G	STIM1	NM_001382567.1(STIM1):c.385+309T>G	noncoding	Benign
11	4055380	A	C	A4055380C	STIM1	NM_001382567.1(STIM1):c.386-146A>C	noncoding	Benign
11	4055818	T	A	T4055818A	STIM1	NM_001382567.1(STIM1):c.497+181T>A	noncoding	Benign
11	4074872	T	C	T4074872C	STIM1	NM_001382567.1(STIM1):c.969+193T>C	noncoding	Benign
11	4082777	C	A	C4082777A	STIM1	NM_001382567.1(STIM1):c.1138-105C>A	noncoding	Benign
11	4082830	A	C	A4082830C	STIM1	NM_001382567.1(STIM1):c.1138-52A>C	noncoding	Benign
11	4082857	T	C	T4082857C	STIM1	NM_001382567.1(STIM1):c.1138-25T>C	noncoding	Benign
11	4083042	A	G	A4083042G	STIM1	NM_001382567.1(STIM1):c.1238+60A>G	noncoding	Benign
11	4083089	A	C	A4083089C	STIM1	NM_001382567.1(STIM1):c.1238+107A>C	noncoding	Benign
11	4083110	C	T	C4083110T	STIM1	NM_001382567.1(STIM1):c.1238+128C>T	noncoding	Benign
11	4083125	T	C	T4083125C	STIM1	NM_001382567.1(STIM1):c.1239-138T>C	noncoding	Benign
11	4083200	G	A	G4083200A	STIM1	NM_001382567.1(STIM1):c.1239-63G>A	noncoding	Benign
11	4086354	T	C	T4086354C	STIM1	NM_001382567.1(STIM1):c.1568-123T>C	noncoding	Benign
11	4088420	C	A	C4088420A	STIM1	NM_001382567.1(STIM1):c.1634+1877C>A	noncoding	Benign
11	4088479	A	T	A4088479T	STIM1	NM_001382567.1(STIM1):c.1634+1936A>T	noncoding	Benign
11	4088918	C	T	C4088918T	STIM1	NM_001382567.1(STIM1):c.1635-2364C>T	noncoding	Benign
11	4091180	C	T	C4091180T	STIM1	NM_001382567.1(STIM1):c.1635-102C>T	noncoding	Benign
11	5225460	A	C	A5225460C	HBB	NM_000518.4(HBB):c.*138T>G	noncoding	Benign/Likely_benign
11	5225605	T	C	T5225605C	HBB	NM_000518.5(HBB):c.437A>G:p.Tyr146Cys	coding	Pathogenic
11	5225660	G	A	G5225660A	HBB	NM_000518.5(HBB):c.382C>T:p.Gln128Ter	coding	Pathogenic
11	5225669	G	T	G5225669T	HBB	NM_000518.5(HBB):c.373C>A:p.Pro125Thr	coding	Benign
11	5225851	T	C	T5225851C	HBB	NM_000518.5(HBB):c.316-125A>G	noncoding	Benign/Likely_benign
11	5226644	T	A	T5226644A	HBB	NM_000518.4(HBB):c.248A>T:p.Lys83Met	coding	Pathogenic
11	5226687	G	A	G5226687A	HBB	NM_000518.5(HBB):c.205C>T:p.Leu69Phe	coding	Pathogenic
11	5226696	T	A	T5226696A	HBB	NM_000518.5(HBB):c.196A>T:p.Lys66Ter	coding	Pathogenic
11	5226936	A	G	A5226936G	HBB	NM_000518.4(HBB):c.86T>C:p.Leu29Pro	coding	Pathogenic
11	5226939	G	T	G5226939T	HBB	NM_000518.4(HBB):c.83C>A:p.Ala28Asp	coding	Pathogenic
11	5226982	C	T	C5226982T	HBB	NM_000518.5(HBB):c.40G>A:p.Ala14Thr	coding	Benign
11	5226997	T	C	T5226997C	HBB	NM_000518.4(HBB):c.25A>G:p.Lys9Glu	coding	Pathogenic
11	5227562	T	G	T5227562G	HBB	Single_allele	noncoding	Benign
11	5233094	T	C	T5233094C	HBD	NM_000519.4(HBD):c.316-2A>G	noncoding	Pathogenic
11	5233845	A	C	A5233845C	HBD	NM_000519.4(HBD):c.315+146T>G	noncoding	Benign
11	5234551	G	A	G5234551A	HBD	NM_000519.3(HBD):c.-118C>T	noncoding	Pathogenic
11	5234670	C	T	C5234670T	HBD	Single_allele	noncoding	Benign
11	5234682	A	G	A5234682G	HBD	Single_allele	noncoding	Benign
11	5248353	G	A	G5248353A	HBG1	NM_000559.3(HBG1):c.*6C>T	noncoding	Benign
11	5248354	T	G	T5248354G	HBG1	NM_000559.3(HBG1):c.*5A>C	noncoding	Benign
11	5248355	G	A	G5248355A	HBG1	NM_000559.3(HBG1):c.*4C>T	noncoding	Benign
11	5248356	A	G	A5248356G	HBG1	NM_000559.3(HBG1):c.*3T>C	noncoding	Benign
11	5248393	G	C	G5248393C	HBG1	NM_000559.3(HBG1):c.410C>G:p.Ala137Gly	coding	Benign
11	5249833	C	T	C5249833T	HBG1	NM_000559.3(HBG1):c.-29G>A	noncoding	Pathogenic
11	5250015	G	A	G5250015A	HBG1	NG_000007.3:g.47601C>T	noncoding	Pathogenic
11	5254416	T	A	T5254416A	HBG2	NM_000184.3(HBG2):c.191A>T:p.His64Leu	coding	Pathogenic
11	5254667	A	G	A5254667G	HBG2	NM_000184.3(HBG2):c.62T>C:p.Val21Ala	coding	Benign
11	5254939	G	A	G5254939A	HBG2	NG_000007.3(HBG2):g.42677C>T	noncoding	Benign
11	5255348	A	C	A5255348C	HBG2	NG_000007.3:g.42268T>G	noncoding	Pathogenic
11	5453664	T	C	T5453664C	OR51I2	NM_001004754.3(OR51I2):c.176T>C:p.Met59Thr	coding	Benign
11	6390089	C	G	C6390089G	SMPD1	Single_allele	noncoding	Benign
11	6390370	C	G	C6390370G	SMPD1	Single_allele	noncoding	Benign
11	6390626	C	T	C6390626T	SMPD1	NM_000543.5(SMPD1):c.28C>T:p.Gln10Ter	coding	Pathogenic/Likely_pathogenic
11	6390659	C	T	C6390659T	SMPD1	NM_000543.5(SMPD1):c.61C>T:p.Gln21Ter	coding	Pathogenic/Likely_pathogenic
11	6390706	G	A	G6390706A	SMPD1	NM_000543.5(SMPD1):c.108G>A:p.Val36=	coding	Benign
11	6390765	G	A	G6390765A	SMPD1	NM_000543.5(SMPD1):c.167G>A:p.Trp56Ter	coding	Pathogenic
11	6390855	G	A	G6390855A	SMPD1	NM_000543.5(SMPD1):c.257G>A:p.Trp86Ter	coding	Pathogenic
11	6390917	G	C	G6390917C	SMPD1	NM_000543.5(SMPD1):c.318+1G>C	coding	Pathogenic
11	6391325	G	A	G6391325A	SMPD1	NM_000543.5(SMPD1):c.319-59G>A	noncoding	Benign
11	6391567	G	A	G6391567A	SMPD1	NM_000543.5(SMPD1):c.502G>A:p.Gly168Arg	coding	Pathogenic/Likely_pathogenic
11	6391593	G	A	G6391593A	SMPD1	NM_000543.5(SMPD1):c.528G>A:p.Trp176Ter	coding	Pathogenic/Likely_pathogenic
11	6391670	G	A	G6391670A	SMPD1	NM_000543.5(SMPD1):c.605G>A:p.Arg202His	coding	Pathogenic
11	6391697	G	A	G6391697A	SMPD1	NM_000543.5(SMPD1):c.632G>A:p.Trp211Ter	coding	Pathogenic
11	6391712	T	G	T6391712G	SMPD1	NM_000543.5(SMPD1):c.647T>G:p.Leu216Arg	coding	Pathogenic
11	6391733	G	A	G6391733A	SMPD1	NM_000543.5(SMPD1):c.668G>A:p.Cys223Tyr	coding	Pathogenic
11	6391733	G	C	G6391733C	SMPD1	NM_000543.5(SMPD1):c.668G>C:p.Cys223Ser	coding	Pathogenic
11	6391824	C	A	C6391824A	SMPD1	NM_000543.5(SMPD1):c.759C>A:p.Asp253Glu	coding	Pathogenic
11	6391904	A	C	A6391904C	SMPD1	NM_000543.5(SMPD1):c.839A>C:p.Asp280Ala	coding	Pathogenic
11	6392090	G	A	G6392090A	SMPD1	NM_000543.5(SMPD1):c.1025G>A:p.Trp342Ter	coding	Pathogenic/Likely_pathogenic
11	6392097	T	G	T6392097G	SMPD1	NM_000543.5(SMPD1):c.1032T>G:p.Tyr344Ter	coding	Pathogenic
11	6392153	T	G	T6392153G	SMPD1	NM_000543.5(SMPD1):c.1088T>G:p.Leu363Arg	coding	Pathogenic
11	6392157	G	A	G6392157A	SMPD1	NM_000543.5(SMPD1):c.1091+1G>A	coding	Pathogenic/Likely_pathogenic
11	6393295	A	C	A6393295C	SMPD1	NM_000543.5(SMPD1):c.1171A>C:p.Asn391His	coding	Pathogenic
11	6393340	C	T	C6393340T	SMPD1	NM_000543.5(SMPD1):c.1216C>T:p.Gln406Ter	coding	Pathogenic
11	6393533	G	A	G6393533A	SMPD1	NM_000543.5(SMPD1):c.1264-84G>A	noncoding	Benign
11	6393629	G	A	G6393629A	SMPD1	NM_000543.5(SMPD1):c.1276G>A:p.Gly426Ser	coding	Pathogenic/Likely_pathogenic
11	6393898	A	G	A6393898G	SMPD1	NM_000543.5(SMPD1):c.1343A>G:p.Tyr448Cys	coding	Pathogenic/Likely_pathogenic
11	6393918	C	T	C6393918T	SMPD1	NM_000543.5(SMPD1):c.1363C>T:p.Gln455Ter	coding	Pathogenic
11	6394013	T	G	T6394013G	SMPD1	NM_000543.5(SMPD1):c.1458T>G:p.Ser486Arg	coding	Pathogenic/Likely_pathogenic
11	6394046	G	A	G6394046A	SMPD1	NM_000543.5(SMPD1):c.1486+5G>A	noncoding	Pathogenic
11	6394162	C	T	C6394162T	SMPD1	NM_000543.5(SMPD1):c.1487-36C>T	noncoding	Benign/Likely_benign
11	6394203	C	T	C6394203T	SMPD1	NM_000543.5(SMPD1):c.1492C>T:p.Arg498Cys	coding	Pathogenic/Likely_pathogenic
11	6394258	A	G	A6394258G	SMPD1	NM_000543.5(SMPD1):c.1547A>G:p.His516Arg	coding	Pathogenic
11	6394309	C	A	C6394309A	SMPD1	NM_000543.5(SMPD1):c.1598C>A:p.Pro533Gln	coding	Pathogenic
11	6394317	C	T	C6394317T	SMPD1	NM_000543.5(SMPD1):c.1606C>T:p.Gln536Ter	coding	Pathogenic
11	6394337	A	C	A6394337C	SMPD1	NM_000543.5(SMPD1):c.1626A>C:p.Arg542=	coding	Benign
11	6394410	C	T	C6394410T	SMPD1	NM_000543.5(SMPD1):c.1699C>T:p.Gln567Ter	coding	Pathogenic
11	6394446	G	A	G6394446A	SMPD1	NM_000543.5(SMPD1):c.1735G>A:p.Gly579Ser	coding	Pathogenic/Likely_pathogenic
11	6511289	C	T	C6511289T	DNHD1	NM_144666.3(DNHD1):c.1252C>T:p.His418Tyr	coding	Benign
11	6528549	A	C	A6528549C	DNHD1	NM_144666.3(DNHD1):c.1865A>C:p.Asp622Ala	coding	Benign
11	6528765	A	G	A6528765G	DNHD1	NM_144666.3(DNHD1):c.2081A>G:p.Asn694Ser	coding	Benign
11	6528774	A	G	A6528774G	DNHD1	NM_144666.3(DNHD1):c.2090A>G:p.Gln697Arg	coding	Benign
11	6533711	C	A	C6533711A	DNHD1	NM_144666.3(DNHD1):c.2536C>A:p.Leu846Met	coding	Benign
11	6548666	G	A	G6548666A	DNHD1	NM_144666.3(DNHD1):c.7120G>A:p.Val2374Met	coding	Benign
11	6558204	A	G	A6558204G	DNHD1	NM_144666.3(DNHD1):c.8909A>G:p.Tyr2970Cys	coding	Pathogenic
11	6603668	G	A	G6603668A	ILK	Single_allele	noncoding	Benign
11	6607812	G	A	G6607812A	ILK	NM_004517.4(ILK):c.90-234G>A	noncoding	Benign
11	6608029	T	C	T6608029C	ILK	NM_004517.4(ILK):c.90-17T>C	noncoding	Benign
11	6609288	C	T	C6609288T	ILK	NM_004517.4(ILK):c.619-11C>T	noncoding	Benign
11	6609773	A	G	A6609773G	ILK	NM_004517.4(ILK):c.906A>G:p.Ala302=	coding	Benign/Likely_benign
11	6610209	G	C	G6610209C	ILK	NM_004517.4(ILK):c.1140G>C:p.Val380=	coding	Benign/Likely_benign
11	6610458	G	A	G6610458A	ILK	NM_004517.4(ILK):c.1210-4G>A	noncoding	Benign/Likely_benign
11	6614612	C	T	C6614612T	TPP1	NM_000391.4(TPP1):c.1626G>A:p.Trp542Ter	coding	Pathogenic
11	6614638	G	A	G6614638A	TPP1	NM_000391.4(TPP1):c.1600C>T:p.Gln534Ter	coding	Pathogenic
11	6614877	C	A	C6614877A	TPP1	NM_000391.4(TPP1):c.1540G>T:p.Gly514Ter	coding	Pathogenic
11	6614949	C	A	C6614949A	TPP1	NM_000391.4(TPP1):c.1468G>T:p.Glu490Ter	coding	Pathogenic
11	6615069	A	G	A6615069G	TPP1	NM_000391.4(TPP1):c.1426-78T>C	noncoding	Benign
11	6615179	C	T	C6615179T	TPP1	NM_000391.4(TPP1):c.1417G>A:p.Gly473Arg	coding	Pathogenic
11	6615189	T	C	T6615189C	TPP1	NM_000391.4(TPP1):c.1407A>G:p.Pro469=	coding	Benign
11	6615449	G	T	G6615449T	TPP1	NM_000391.4(TPP1):c.1259C>A:p.Ser420Ter	coding	Pathogenic/Likely_pathogenic
11	6615490	A	T	A6615490T	TPP1	NM_000391.4(TPP1):c.1218T>A:p.Tyr406Ter	coding	Pathogenic
11	6616690	T	C	T6616690C	TPP1	NM_000391.4(TPP1):c.857A>G:p.Asn286Ser	coding	Pathogenic/Likely_pathogenic
11	6616757	G	A	G6616757A	TPP1	NM_000391.4(TPP1):c.790C>T:p.Gln264Ter	coding	Pathogenic
11	6616860	C	A	C6616860A	TPP1	NM_000391.4(TPP1):c.688-1G>T	coding	Pathogenic
11	6616983	A	G	A6616983G	TPP1	NM_000391.4(TPP1):c.679T>C:p.Cys227Arg	coding	Pathogenic
11	6617057	G	A	G6617057A	TPP1	NM_000391.4(TPP1):c.605C>T:p.Pro202Leu	coding	Pathogenic/Likely_pathogenic
11	6617155	T	C	T6617155C	TPP1	NM_000391.4(TPP1):c.509-2A>G	noncoding	Pathogenic
11	6617337	G	A	G6617337A	TPP1	NM_000391.4(TPP1):c.472C>T:p.Gln158Ter	coding	Pathogenic
11	6617344	A	G	A6617344G	TPP1	NM_000391.4(TPP1):c.465T>C:p.His155=	coding	Benign/Likely_benign
11	6618819	C	G	C6618819G	TPP1	NM_000391.4(TPP1):c.186G>C:p.Ser62=	coding	Benign
11	6618875	C	A	C6618875A	TPP1	NM_000391.4(TPP1):c.130G>T:p.Glu44Ter	coding	Pathogenic
11	6619233	T	A	T6619233A	TPP1	NM_000391.4(TPP1):c.52A>T:p.Lys18Ter	coding	Pathogenic
11	6619550	C	T	C6619550T	TPP1	Single_allele	noncoding	Benign
11	6622163	A	G	A6622163G	DCHS1	NM_003737.4(DCHS1):c.9513T>C:p.Pro3171=	coding	Benign
11	6622283	C	T	C6622283T	DCHS1	NM_003737.4(DCHS1):c.9393G>A:p.Gly3131=	coding	Benign
11	6622745	C	T	C6622745T	DCHS1	NM_003737.4(DCHS1):c.8931G>A:p.Gln2977=	coding	Benign
11	6623039	G	A	G6623039A	DCHS1	NM_003737.4(DCHS1):c.8637C>T:p.Ser2879=	coding	Benign/Likely_benign
11	6623077	C	T	C6623077T	DCHS1	NM_003737.4(DCHS1):c.8599G>A:p.Ala2867Thr	coding	Benign
11	6623196	C	G	C6623196G	DCHS1	NM_003737.4(DCHS1):c.8480G>C:p.Arg2827Pro	coding	Benign
11	6623369	C	T	C6623369T	DCHS1	NM_003737.4(DCHS1):c.8307G>A:p.Ala2769=	coding	Benign
11	6624062	A	C	A6624062C	DCHS1	NM_003737.4(DCHS1):c.7614T>G:p.Ala2538=	coding	Benign
11	6624291	C	T	C6624291T	DCHS1	NM_003737.4(DCHS1):c.7385G>A:p.Arg2462Gln	coding	Benign
11	6625353	C	T	C6625353T	DCHS1	NM_003737.4(DCHS1):c.6991G>A:p.Val2331Ile	coding	Benign
11	6625500	G	T	G6625500T	DCHS1	NM_003737.4(DCHS1):c.6863-19C>A	noncoding	Benign/Likely_benign
11	6625501	T	C	T6625501C	DCHS1	NM_003737.4(DCHS1):c.6863-20A>G	noncoding	Benign
11	6626700	C	T	C6626700T	DCHS1	NM_003737.4(DCHS1):c.6251-35G>A	noncoding	Benign
11	6626720	G	T	G6626720T	DCHS1	NM_003737.4(DCHS1):c.6251-55C>A	noncoding	Benign
11	6626747	C	T	C6626747T	DCHS1	NM_003737.4(DCHS1):c.6250+42G>A	noncoding	Benign
11	6626774	T	A	T6626774A	DCHS1	NM_003737.4(DCHS1):c.6250+15A>T	noncoding	Benign
11	6626859	C	T	C6626859T	DCHS1	NM_003737.4(DCHS1):c.6180G>A:p.Gly2060=	coding	Benign
11	6627342	T	C	T6627342C	DCHS1	NM_003737.4(DCHS1):c.5697A>G:p.Ala1899=	coding	Benign
11	6627360	G	T	G6627360T	DCHS1	NM_003737.4(DCHS1):c.5679C>A:p.Tyr1893Ter	coding	Pathogenic
11	6627706	C	T	C6627706T	DCHS1	NM_003737.4(DCHS1):c.5372-39G>A	noncoding	Benign
11	6629393	A	G	A6629393G	DCHS1	NM_003737.4(DCHS1):c.5161+59T>C	noncoding	Benign
11	6629453	T	A	T6629453A	DCHS1	NM_003737.4(DCHS1):c.5160A>T:p.Thr1720=	coding	Benign
11	6629582	G	C	G6629582C	DCHS1	NM_003737.4(DCHS1):c.5036-5C>G	noncoding	Benign
11	6629625	T	C	T6629625C	DCHS1	NM_003737.4(DCHS1):c.5035+47A>G	noncoding	Benign
11	6630315	C	T	C6630315T	DCHS1	NM_003737.4(DCHS1):c.4479G>A:p.Gly1493=	coding	Benign/Likely_benign
11	6630744	C	G	C6630744G	DCHS1	NM_003737.4(DCHS1):c.4050G>C:p.Leu1350=	coding	Benign
11	6631185	C	T	C6631185T	DCHS1	NM_003737.4(DCHS1):c.3798G>A:p.Leu1266=	coding	Benign
11	6631372	C	T	C6631372T	DCHS1	NM_003737.4(DCHS1):c.3711G>A:p.Thr1237=	coding	Benign/Likely_benign
11	6631388	G	A	G6631388A	DCHS1	NM_003737.4(DCHS1):c.3695C>T:p.Pro1232Leu	coding	Benign
11	6631745	C	T	C6631745T	DCHS1	NM_003737.4(DCHS1):c.3546G>A:p.Gln1182=	coding	Benign/Likely_benign
11	6631998	A	G	A6631998G	DCHS1	NM_003737.4(DCHS1):c.3481+33T>C	noncoding	Benign
11	6632001	C	G	C6632001G	DCHS1	NM_003737.4(DCHS1):c.3481+30G>C	noncoding	Benign
11	6632964	G	A	G6632964A	DCHS1	NM_003737.4(DCHS1):c.2548C>T:p.Arg850Cys	coding	Benign/Likely_benign
11	6632989	C	T	C6632989T	DCHS1	NM_003737.4(DCHS1):c.2523G>A:p.Ala841=	coding	Benign
11	6633382	A	G	A6633382G	DCHS1	NM_003737.4(DCHS1):c.2455+30T>C	noncoding	Benign
11	6633562	G	A	G6633562A	DCHS1	NM_003737.4(DCHS1):c.2305C>T:p.Gln769Ter	coding	Pathogenic
11	6633642	A	T	A6633642T	DCHS1	NM_003737.4(DCHS1):c.2225T>A:p.Leu742Ter	coding	Pathogenic
11	6634033	G	A	G6634033A	DCHS1	NM_003737.4(DCHS1):c.1987-13C>T	noncoding	Benign
11	6639488	C	T	C6639488T	DCHS1	NM_003737.4(DCHS1):c.1797+329G>A	noncoding	Benign
11	6640182	G	A	G6640182A	DCHS1	NM_003737.4(DCHS1):c.1432C>T:p.Arg478Ter	coding	Pathogenic
11	6640216	G	A	G6640216A	DCHS1	NM_003737.4(DCHS1):c.1398C>T:p.Asn466=	coding	Benign/Likely_benign
11	6640913	G	C	G6640913C	DCHS1	NM_003737.4(DCHS1):c.701C>G:p.Pro234Arg	coding	Benign
11	6641874	C	T	C6641874T	DCHS1	NM_003737.4(DCHS1):c.-120-141G>A	noncoding	Benign
11	6641975	G	A	G6641975A	DCHS1	NM_003737.4(DCHS1):c.-120-242C>T	noncoding	Benign
11	7038518	T	A	T7038518A	NLRP14	NM_176822.4(NLRP14):c.-21-48T>A	noncoding	Benign
11	7038729	A	C	A7038729C	NLRP14	NM_176822.4(NLRP14):c.143A>C:p.Asn48Thr	coding	Benign
11	7038750	G	A	G7038750A	NLRP14	NM_176822.4(NLRP14):c.164G>A:p.Arg55Gln	coding	Benign
11	7038861	A	G	A7038861G	NLRP14	NM_176822.4(NLRP14):c.275A>G:p.Lys92Arg	coding	Benign
11	7039439	A	T	A7039439T	NLRP14	NM_176822.4(NLRP14):c.290-275A>T	noncoding	Benign
11	7039831	T	G	T7039831G	NLRP14	NM_176822.4(NLRP14):c.361+46T>G	noncoding	Benign
11	7042066	A	G	A7042066G	NLRP14	NM_176822.4(NLRP14):c.362-322A>G	noncoding	Benign
11	7042068	T	C	T7042068C	NLRP14	NM_176822.4(NLRP14):c.362-320T>C	noncoding	Benign
11	7042524	C	T	C7042524T	NLRP14	NM_176822.4(NLRP14):c.498C>T:p.Phe166=	coding	Benign
11	7043226	T	C	T7043226C	NLRP14	NM_176822.4(NLRP14):c.1200T>C:p.Phe400=	coding	Benign
11	7044058	C	A	C7044058A	NLRP14	NM_176822.4(NLRP14):c.1958+74C>A	noncoding	Benign
11	7046470	G	T	G7046470T	NLRP14	NM_176822.4(NLRP14):c.1959-198G>T	noncoding	Benign
11	7046937	C	T	C7046937T	NLRP14	NM_176822.4(NLRP14):c.2123+105C>T	noncoding	Benign
11	7049399	T	C	T7049399C	NLRP14	NM_176822.4(NLRP14):c.2124-272T>C	noncoding	Benign
11	7049427	A	T	A7049427T	NLRP14	NM_176822.4(NLRP14):c.2124-244A>T	noncoding	Benign
11	7049492	G	T	G7049492T	NLRP14	NM_176822.4(NLRP14):c.2124-179G>T	noncoding	Benign
11	7049635	G	A	G7049635A	NLRP14	NM_176822.4(NLRP14):c.2124-36G>A	noncoding	Benign
11	7049800	G	A	G7049800A	NLRP14	NM_176822.4(NLRP14):c.2253G>A:p.Glu751=	coding	Benign
11	7057573	A	C	A7057573C	NLRP14	NM_176822.4(NLRP14):c.2292-104A>C	noncoding	Benign
11	7057807	G	A	G7057807A	NLRP14	NM_176822.4(NLRP14):c.2422G>A:p.Glu808Lys	coding	Benign
11	7058030	A	G	A7058030G	NLRP14	NM_176822.4(NLRP14):c.2462+183A>G	noncoding	Benign
11	7058108	C	T	C7058108T	NLRP14	NM_176822.4(NLRP14):c.2463-172C>T	noncoding	Benign
11	7059640	T	G	T7059640G	NLRP14	NM_176822.4(NLRP14):c.2634-254T>G	noncoding	Benign
11	7062028	A	G	A7062028G	NLRP14	NM_176822.4(NLRP14):c.2805-305A>G	noncoding	Benign
11	7070126	A	C	A7070126C	NLRP14	NM_176822.4(NLRP14):c.2976-160A>C	noncoding	Benign
11	7070175	A	C	A7070175C	NLRP14	NM_176822.4(NLRP14):c.2976-111A>C	noncoding	Benign
11	7070338	C	T	C7070338T	NLRP14	NM_176822.4(NLRP14):c.3028C>T:p.Leu1010Phe	coding	Benign
11	7070541	C	A	C7070541A	NLRP14	NM_176822.4(NLRP14):c.3146+85C>A	noncoding	Benign
11	7071602	A	G	A7071602G	NLRP14	Single_allele	noncoding	Benign
11	7088922	T	C	T7088922C	RBMXL2	Single_allele	noncoding	Benign
11	7089006	C	G	C7089006G	RBMXL2	NM_014469.5(RBMXL2):c.-115C>G	noncoding	Benign
11	7089012	G	C	G7089012C	RBMXL2	NM_014469.5(RBMXL2):c.-109G>C	noncoding	Benign
11	7089132	G	A	G7089132A	RBMXL2	NM_014469.5(RBMXL2):c.12G>A:p.Ala4=	coding	Benign
11	7089317	C	T	C7089317T	RBMXL2	NM_014469.5(RBMXL2):c.197C>T:p.Ala66Val	coding	Benign
11	7089520	A	G	A7089520G	RBMXL2	NM_014469.5(RBMXL2):c.400A>G:p.Thr134Ala	coding	Benign
11	7992932	C	T	C7992932T	EIF3F	NM_003754.3(EIF3F):c.561C>T:p.His187=	coding	Benign
11	7996046	C	T	C7996046T	EIF3F	NM_003754.3(EIF3F):c.*24C>T	noncoding	Benign
11	8039672	G	A	G8039672A	TUB	NM_003320.5(TUB):c.183G>A:p.Lys61_Glu62=	coding	Benign
11	8039684	G	A	G8039684A	TUB	NM_003320.5(TUB):c.195G>A:p.Glu65_Ile66=	coding	Benign
11	8094048	C	T	C8094048T	TUB	NM_177972.3(TUB):c.256C>T:p.Gln86Ter	coding	Pathogenic
11	8094152	T	C	T8094152C	TUB	NM_177972.3(TUB):c.360T>C:p.Gly120=	coding	Benign
11	8094165	A	T	A8094165T	TUB	NM_177972.3(TUB):c.373A>T:p.Lys125Ter	coding	Pathogenic
11	8094215	C	G	C8094215G	TUB	NM_177972.3(TUB):c.397+26C>G	noncoding	Benign
11	8095681	A	G	A8095681G	TUB	NM_177972.3(TUB):c.565+16A>G	noncoding	Benign
11	8096638	C	G	C8096638G	TUB	NM_177972.3(TUB):c.566-47C>G	noncoding	Benign
11	8096653	C	A	C8096653A	TUB	NM_177972.3(TUB):c.566-32C>A	noncoding	Benign
11	8097751	A	G	A8097751G	TUB	NM_177972.3(TUB):c.923A>G:p.Lys308Arg	coding	Benign
11	8097795	C	T	C8097795T	TUB	NM_177972.3(TUB):c.967C>T:p.Arg323Ter	coding	Pathogenic
11	8098876	G	T	G8098876T	TUB	NM_177972.3(TUB):c.1116+1G>T	coding	Pathogenic
11	8100544	C	T	C8100544T	TUB	NM_177972.3(TUB):c.1158C>T:p.Ser386=	coding	Benign
11	8100602	G	A	G8100602A	TUB	NM_177972.3(TUB):c.1215+1G>A	coding	Pathogenic/Likely_pathogenic
11	8101476	T	G	T8101476G	TUB	NM_177972.3(TUB):c.1388-10T>G	noncoding	Benign
11	8695456	C	T	C8695456T	DENND2B	NM_213618.2(DENND2B):c.3379+7G>A	noncoding	Benign
11	9143402	C	A	C9143402A	DENND5A	NM_015213.4(DENND5A):c.3387+1G>T	noncoding	Pathogenic
11	9144983	G	A	G9144983A	DENND5A	NM_015213.4(DENND5A):c.3122+12C>T	noncoding	Benign
11	9145852	T	C	T9145852C	DENND5A	NM_015213.4(DENND5A):c.2858-37A>G	noncoding	Benign
11	9150152	C	T	C9150152T	DENND5A	NM_015213.4(DENND5A):c.2664G>A:p.Val888=	coding	Benign
11	9150228	A	G	A9150228G	DENND5A	NM_015213.4(DENND5A):c.2607-19T>C	noncoding	Benign
11	9170737	A	G	A9170737G	DENND5A	NM_015213.4(DENND5A):c.1947T>C:p.Thr649=	coding	Benign
11	9178373	G	A	G9178373A	DENND5A	NM_015213.4(DENND5A):c.1672-7C>T	noncoding	Benign/Likely_benign
11	9178842	G	A	G9178842A	DENND5A	NM_015213.4(DENND5A):c.1671+16C>T	noncoding	Benign
11	9178918	T	C	T9178918C	DENND5A	NM_015213.4(DENND5A):c.1611A>G:p.Gln537=	coding	Benign/Likely_benign
11	9179008	G	A	G9179008A	DENND5A	NM_015213.4(DENND5A):c.1521C>T:p.Leu507=	coding	Benign
11	9180887	C	T	C9180887T	DENND5A	NM_015213.4(DENND5A):c.1335G>A:p.Ser445=	coding	Benign
11	9203779	T	C	T9203779C	DENND5A	NM_015213.4(DENND5A):c.830A>G:p.Asn277Ser	coding	Benign
11	9203870	C	T	C9203870T	DENND5A	NM_015213.4(DENND5A):c.739G>A:p.Val247Ile	coding	Benign
11	9203939	C	G	C9203939G	DENND5A	NM_015213.4(DENND5A):c.670G>C:p.Glu224Gln	coding	Benign
11	9204204	G	A	G9204204A	DENND5A	NM_015213.4(DENND5A):c.405C>T:p.Leu135=	coding	Benign
11	9264968	C	T	C9264968T	DENND5A	NM_015213.4(DENND5A):c.102G>A:p.Glu34=	coding	Benign
11	9265034	G	A	G9265034A	DENND5A	NM_015213.4(DENND5A):c.36C>T:p.Pro12=	coding	Benign
11	9471553	G	T	G9471553T	ZNF143	NM_003442.6(ZNF143):c.112+133G>T	noncoding	Benign
11	9472785	A	G	A9472785G	ZNF143	NM_003442.6(ZNF143):c.205+16A>G	noncoding	Benign
11	9474414	A	T	A9474414T	ZNF143	NM_003442.6(ZNF143):c.290-136A>T	noncoding	Benign
11	9478273	G	A	G9478273A	ZNF143	NM_003442.6(ZNF143):c.374-117G>A	noncoding	Benign
11	9478593	C	T	C9478593T	ZNF143	NM_003442.6(ZNF143):c.570+7C>T	noncoding	Benign
11	9479393	C	G	C9479393G	ZNF143	NM_003442.6(ZNF143):c.571-79C>G	noncoding	Benign
11	9479721	T	C	T9479721C	ZNF143	NM_003442.6(ZNF143):c.645+175T>C	noncoding	Benign
11	9479727	G	T	G9479727T	ZNF143	NM_003442.6(ZNF143):c.645+181G>T	noncoding	Benign
11	9494639	T	C	T9494639C	ZNF143	NM_003442.6(ZNF143):c.646-7T>C	noncoding	Benign
11	9496110	A	G	A9496110G	ZNF143	NM_003442.6(ZNF143):c.766-193A>G	noncoding	Benign
11	9497627	T	C	T9497627C	ZNF143	NM_003442.6(ZNF143):c.842-48T>C	noncoding	Benign
11	9497828	C	T	C9497828T	ZNF143	NM_003442.6(ZNF143):c.967+28C>T	noncoding	Benign
11	9497862	G	A	G9497862A	ZNF143	NM_003442.6(ZNF143):c.967+62G>A	noncoding	Benign
11	9497873	T	C	T9497873C	ZNF143	NM_003442.6(ZNF143):c.967+73T>C	noncoding	Benign
11	9497917	G	A	G9497917A	ZNF143	NM_003442.6(ZNF143):c.967+117G>A	noncoding	Benign
11	9497987	T	C	T9497987C	ZNF143	NM_003442.6(ZNF143):c.967+187T>C	noncoding	Benign
11	9500918	T	C	T9500918C	ZNF143	NM_003442.6(ZNF143):c.968-173T>C	noncoding	Benign
11	9500947	C	A	C9500947A	ZNF143	NM_003442.6(ZNF143):c.968-144C>A	noncoding	Benign
11	9500951	C	G	C9500951G	ZNF143	NM_003442.6(ZNF143):c.968-140C>G	noncoding	Benign
11	9501020	T	C	T9501020C	ZNF143	NM_003442.6(ZNF143):c.968-71T>C	noncoding	Benign
11	9508415	G	A	G9508415A	ZNF143	NM_003442.6(ZNF143):c.1148-204G>A	noncoding	Benign
11	9508467	G	A	G9508467A	ZNF143	NM_003442.6(ZNF143):c.1148-152G>A	noncoding	Benign
11	9512556	G	A	G9512556A	ZNF143	NM_003442.6(ZNF143):c.1484G>A:p.Ser495Asn	coding	Benign
11	9516357	G	C	G9516357C	ZNF143	NM_003442.6(ZNF143):c.1681G>C:p.Glu561Gln	coding	Benign
11	9516370	C	G	C9516370G	ZNF143	NM_003442.6(ZNF143):c.1686+8C>G	noncoding	Benign
11	9516431	A	G	A9516431G	ZNF143	NM_003442.6(ZNF143):c.1686+69A>G	noncoding	Benign
11	9525034	T	C	T9525034C	ZNF143	NM_003442.6(ZNF143):c.1687-206T>C	noncoding	Benign
11	9525040	G	A	G9525040A	ZNF143	NM_003442.6(ZNF143):c.1687-200G>A	noncoding	Benign
11	9527595	G	A	G9527595A	ZNF143	NM_003442.6(ZNF143):c.1899G>A:p.Thr633=	coding	Benign
11	9785111	G	A	G9785111A	SBF2	NM_030962.4(SBF2):c.5231+14C>T	noncoding	Benign/Likely_benign
11	9785332	G	A	G9785332A	SBF2	NM_030962.4(SBF2):c.5038-14C>T	noncoding	Benign
11	9795975	A	C	A9795975C	SBF2	NM_030962.4(SBF2):c.4444-18T>G	noncoding	Benign/Likely_benign
11	9829443	G	A	G9829443A	SBF2	NM_030962.4(SBF2):c.3706C>T:p.Gln1236Ter	coding	Pathogenic
11	9842851	T	C	T9842851C	SBF2	NM_030962.4(SBF2):c.3111-81A>G	noncoding	Benign
11	9853017	A	G	A9853017G	SBF2	NM_030962.4(SBF2):c.2537-268T>C	noncoding	Benign
11	9858271	A	C	A9858271C	SBF2	NM_030962.4(SBF2):c.2055T>G:p.Tyr685Ter	coding	Pathogenic
11	9858406	C	T	C9858406T	SBF2	NM_030962.4(SBF2):c.1930-10G>A	noncoding	Benign
11	9895732	C	T	C9895732T	SBF2	NM_030962.4(SBF2):c.1929+211G>A	noncoding	Benign
11	9895993	C	A	C9895993A	SBF2	NM_030962.4(SBF2):c.1879G>T:p.Glu627Ter	coding	Pathogenic
11	9961899	T	C	T9961899C	SBF2	NM_030962.4(SBF2):c.1860+58A>G	noncoding	Benign
11	9962191	G	A	G9962191A	SBF2	NM_030962.4(SBF2):c.1711-85C>T	noncoding	Benign
11	9962372	T	G	T9962372G	SBF2	NM_030962.4(SBF2):c.1711-266A>C	noncoding	Benign
11	9963486	A	T	A9963486T	SBF2	NM_030962.4(SBF2):c.1710+287T>A	noncoding	Benign
11	9963902	A	G	A9963902G	SBF2	NM_030962.4(SBF2):c.1601-20T>C	noncoding	Benign/Likely_benign
11	9992125	C	T	C9992125T	SBF2	NM_030962.4(SBF2):c.1296+290G>A	noncoding	Benign
11	9992222	A	G	A9992222G	SBF2	NM_030962.4(SBF2):c.1296+193T>C	noncoding	Benign
11	9992915	C	A	C9992915A	SBF2	NM_030962.4(SBF2):c.1167+75G>T	noncoding	Benign
11	9998617	T	C	T9998617C	SBF2	NM_030962.4(SBF2):c.862-238A>G	noncoding	Benign
11	10002658	T	C	T10002658C	SBF2	NM_030962.4(SBF2):c.651A>G:p.Ala217=	coding	Benign/Likely_benign
11	10002764	A	G	A10002764G	SBF2	NM_030962.4(SBF2):c.620-75T>C	noncoding	Benign
11	10028247	A	G	A10028247G	SBF2	NM_030962.4(SBF2):c.619+205T>C	noncoding	Benign
11	10028253	G	A	G10028253A	SBF2	NM_030962.4(SBF2):c.619+199C>T	noncoding	Benign
11	10029786	G	C	G10029786C	SBF2	NM_030962.4(SBF2):c.492C>G:p.Val164=	coding	Benign/Likely_benign
11	10042894	G	A	G10042894A	SBF2	NM_030962.4(SBF2):c.229C>T:p.Arg77Ter	coding	Pathogenic
11	10194169	T	C	T10194169C	SBF2	NM_030962.4(SBF2):c.56-182A>G	noncoding	Benign
11	10293930	T	G	T10293930G	SBF2	NM_030962.4(SBF2):c.55+85A>C	noncoding	Benign
11	10628820	G	A	G10628820A	IRAG1	NM_130385.4(IRAG1):c.583C>T:p.Pro195Ser	coding	Benign
11	10750875	T	C	T10750875C	CTR9	Single_allele	noncoding	Benign
11	10751008	A	G	A10751008G	CTR9	Single_allele	noncoding	Benign
11	10751502	G	A	G10751502A	CTR9	NM_014633.5(CTR9):c.45+45G>A	noncoding	Benign
11	10752445	C	T	C10752445T	CTR9	NM_014633.5(CTR9):c.46-227C>T	noncoding	Benign
11	10755053	A	G	A10755053G	CTR9	NM_014633.5(CTR9):c.240A>G:p.Lys80=	coding	Benign
11	10755086	G	A	G10755086A	CTR9	NM_014633.5(CTR9):c.273G>A:p.Ala91=	coding	Benign
11	10755484	T	C	T10755484C	CTR9	NM_014633.5(CTR9):c.385-194T>C	noncoding	Benign
11	10755619	T	C	T10755619C	CTR9	NM_014633.5(CTR9):c.385-59T>C	noncoding	Benign
11	10755665	C	T	C10755665T	CTR9	NM_014633.5(CTR9):c.385-13C>T	noncoding	Benign
11	10755710	A	G	A10755710G	CTR9	NM_014633.5(CTR9):c.417A>G:p.Leu139=	coding	Benign
11	10755863	G	A	G10755863A	CTR9	NM_014633.5(CTR9):c.502+68G>A	noncoding	Benign
11	10755945	T	C	T10755945C	CTR9	NM_014633.5(CTR9):c.502+150T>C	noncoding	Benign
11	10756831	A	G	A10756831G	CTR9	NM_014633.5(CTR9):c.585A>G:p.Gly195=	coding	Benign
11	10756954	A	G	A10756954G	CTR9	NM_014633.5(CTR9):c.592+116A>G	noncoding	Benign
11	10756963	T	G	T10756963G	CTR9	NM_014633.5(CTR9):c.592+125T>G	noncoding	Benign
11	10759848	T	G	T10759848G	CTR9	NM_014633.5(CTR9):c.593-325T>G	noncoding	Benign
11	10761967	T	C	T10761967C	CTR9	NM_014633.5(CTR9):c.762T>C:p.Gly254=	coding	Benign
11	10762338	G	A	G10762338A	CTR9	NM_014633.5(CTR9):c.849+284G>A	noncoding	Benign
11	10764150	T	C	T10764150C	CTR9	NM_014633.5(CTR9):c.1233T>C:p.Asp411=	coding	Benign/Likely_benign
11	10764448	G	T	G10764448T	CTR9	NM_014633.5(CTR9):c.1413+12G>T	noncoding	Benign
11	10764589	G	A	G10764589A	CTR9	NM_014633.5(CTR9):c.1455G>A:p.Ala485=	coding	Benign
11	10764595	C	T	C10764595T	CTR9	NM_014633.5(CTR9):c.1461C>T:p.His487=	coding	Benign
11	10764628	C	T	C10764628T	CTR9	NM_014633.5(CTR9):c.1494C>T:p.Thr498=	coding	Benign
11	10764691	G	A	G10764691A	CTR9	NM_014633.5(CTR9):c.1557G>A:p.Leu519=	coding	Benign/Likely_benign
11	10764938	G	C	G10764938C	CTR9	NM_014633.5(CTR9):c.1597+207G>C	noncoding	Benign
11	10766110	G	A	G10766110A	CTR9	NM_014633.5(CTR9):c.1598-292G>A	noncoding	Benign
11	10766737	A	G	A10766737G	CTR9	NM_014633.5(CTR9):c.1686+247A>G	noncoding	Benign
11	10766780	T	C	T10766780C	CTR9	NM_014633.5(CTR9):c.1686+290T>C	noncoding	Benign
11	10767803	C	T	C10767803T	CTR9	NM_014633.5(CTR9):c.1687-3C>T	noncoding	Benign/Likely_benign
11	10768479	C	T	C10768479T	CTR9	NM_014633.5(CTR9):c.2097C>T:p.Ser699=	coding	Benign
11	10769981	A	G	A10769981G	CTR9	NM_014633.5(CTR9):c.2110-229A>G	noncoding	Benign
11	10770436	G	A	G10770436A	CTR9	NM_014633.5(CTR9):c.2227-51G>A	noncoding	Benign
11	10770573	T	C	T10770573C	CTR9	NM_014633.5(CTR9):c.2313T>C:p.Asp771=	coding	Benign/Likely_benign
11	10770636	A	C	A10770636C	CTR9	NM_014633.5(CTR9):c.2372+4A>C	noncoding	Benign
11	10770640	T	A	T10770640A	CTR9	NM_014633.5(CTR9):c.2372+8T>A	noncoding	Benign
11	10770779	A	G	A10770779G	CTR9	NM_014633.5(CTR9):c.2372+147A>G	noncoding	Benign
11	10772507	T	C	T10772507C	CTR9	NM_014633.5(CTR9):c.2445-13T>C	noncoding	Benign
11	10772512	T	C	T10772512C	CTR9	NM_014633.5(CTR9):c.2445-8T>C	noncoding	Benign
11	10772734	C	A	C10772734A	CTR9	NM_014633.5(CTR9):c.2580+79C>A	noncoding	Benign
11	10773578	C	T	C10773578T	CTR9	NM_014633.5(CTR9):c.2727+305C>T	noncoding	Benign
11	10774059	T	C	T10774059C	CTR9	NM_014633.5(CTR9):c.2775T>C:p.Thr925=	coding	Benign
11	10774137	G	C	G10774137C	CTR9	NM_014633.5(CTR9):c.2853G>C:p.Glu951Asp	coding	Benign
11	10774178	A	G	A10774178G	CTR9	NM_014633.5(CTR9):c.2885+9A>G	noncoding	Benign
11	10774256	G	T	G10774256T	CTR9	NM_014633.5(CTR9):c.2885+87G>T	noncoding	Benign
11	10775263	C	G	C10775263G	CTR9	NM_014633.5(CTR9):c.2942C>G:p.Pro981Arg	coding	Benign
11	10778703	C	T	C10778703T	CTR9	NM_014633.5(CTR9):c.3120C>T:p.Asn1040=	coding	Benign
11	10778737	T	C	T10778737C	CTR9	NM_014633.5(CTR9):c.3154T>C:p.Cys1052Arg	coding	Benign
11	10778778	G	A	G10778778A	CTR9	NM_014633.5(CTR9):c.3195G>A:p.Lys1065=	coding	Benign
11	10778985	G	A	G10778985A	CTR9	NM_014633.5(CTR9):c.3402G>A:p.Ser1134=	coding	Benign
11	10779032	A	G	A10779032G	CTR9	NM_014633.5(CTR9):c.3449A>G:p.Glu1150Gly	coding	Benign/Likely_benign
11	10779036	G	A	G10779036A	CTR9	NM_014633.5(CTR9):c.3453G>A:p.Ser1151=	coding	Benign
11	10779053	A	T	A10779053T	CTR9	NM_014633.5(CTR9):c.3470A>T:p.Asn1157Ile	coding	Benign
11	12764271	C	T	C12764271T	TEAD1	NM_021961.6(TEAD1):c.39C>T:p.Ala13=	coding	Benign
11	12764418	C	T	C12764418T	TEAD1	NM_021961.6(TEAD1):c.186C>T:p.Asp62=	coding	Benign
11	12862323	A	G	A12862323G	TEAD1	NM_021961.6(TEAD1):c.267+9A>G	noncoding	Benign
11	12881896	C	T	C12881896T	TEAD1	NM_021961.6(TEAD1):c.513C>T:p.Asp171=	coding	Benign
11	12881938	G	A	G12881938A	TEAD1	NM_021961.6(TEAD1):c.555G>A:p.Ala185=	coding	Benign
11	12930169	C	T	C12930169T	TEAD1	NM_021961.6(TEAD1):c.1015-5C>T	noncoding	Benign
11	12930338	G	C	G12930338C	TEAD1	NM_021961.6(TEAD1):c.1167+12G>C	noncoding	Benign
11	13492716	C	T	C13492716T	PTH	NM_000315.4(PTH):c.87-50G>A	noncoding	Benign
11	13492769	C	G	C13492769G	PTH	NM_000315.4(PTH):c.86+1G>C	noncoding	Pathogenic
11	13492958	C	T	C13492958T	PTH	NM_000315.4(PTH):c.-5-98G>A	noncoding	Benign
11	13694635	G	A	G13694635A	FAR1	NM_032228.6(FAR1):c.-7-124G>A	noncoding	Benign
11	13694777	C	T	C13694777T	FAR1	NM_032228.6(FAR1):c.12C>T:p.Ile4=	coding	Benign/Likely_benign
11	13694983	A	G	A13694983G	FAR1	NM_032228.6(FAR1):c.189+29A>G	noncoding	Benign
11	13695072	C	A	C13695072A	FAR1	NM_032228.6(FAR1):c.189+118C>A	noncoding	Benign
11	13700692	A	G	A13700692G	FAR1	NM_032228.6(FAR1):c.365+200A>G	noncoding	Benign
11	13708092	G	A	G13708092A	FAR1	NM_032228.6(FAR1):c.545+13G>A	noncoding	Benign
11	13708093	A	T	A13708093T	FAR1	NM_032228.6(FAR1):c.545+14A>T	noncoding	Benign
11	13711854	C	T	C13711854T	FAR1	NM_032228.6(FAR1):c.768+46C>T	noncoding	Benign
11	13713008	T	C	T13713008C	FAR1	NM_032228.6(FAR1):c.930T>C:p.Thr310=	coding	Benign
11	13721778	A	G	A13721778G	FAR1	NM_032228.6(FAR1):c.1176A>G:p.Glu392=	coding	Benign/Likely_benign
11	13727340	G	C	G13727340C	FAR1	NM_032228.6(FAR1):c.1258-216G>C	noncoding	Benign
11	13727545	T	C	T13727545C	FAR1	NM_032228.6(FAR1):c.1258-11T>C	noncoding	Benign
11	13728369	A	T	A13728369T	FAR1	NM_032228.6(FAR1):c.1386-243A>T	noncoding	Benign
11	13728499	C	A	C13728499A	FAR1	NM_032228.6(FAR1):c.1386-113C>A	noncoding	Benign
11	13728664	C	T	C13728664T	FAR1	NM_032228.6(FAR1):c.1438C>T:p.Arg480Cys	coding	Pathogenic/Likely_pathogenic
11	13728665	G	T	G13728665T	FAR1	NM_032228.6(FAR1):c.1439G>T:p.Arg480Leu	coding	Pathogenic
11	13963036	C	T	C13963036T	SPON1	NM_006108.4(SPON1):c.132C>T:p.Cys44=	coding	Benign
11	14279213	C	G	C14279213G	RRAS2	NM_012250.6(RRAS2):c.*124G>C	noncoding	Benign
11	14281717	T	A	T14281717A	RRAS2	NM_012250.6(RRAS2):c.412A>T:p.Thr138Ser	coding	Benign
11	14281736	T	A	T14281736A	RRAS2	NM_012250.6(RRAS2):c.409-16A>T	noncoding	Benign
11	14294369	C	T	C14294369T	RRAS2	NM_012250.6(RRAS2):c.408+102G>A	noncoding	Benign
11	14294741	A	G	A14294741G	RRAS2	NM_012250.6(RRAS2):c.299+19T>C	noncoding	Benign
11	14358804	C	A	C14358804A	RRAS2	NM_012250.6(RRAS2):c.67G>T:p.Gly23Cys	coding	Pathogenic
11	14359282	G	A	G14359282A	RRAS2	NM_001177314.2(RRAS2):c.3+5109C>T	noncoding	Benign
11	14364395	G	A	G14364395A	RRAS2	NM_001177314.2(RRAS2):c.-2C>T	noncoding	Benign
11	14364599	A	G	A14364599G	RRAS2	Single_allele	noncoding	Benign
11	14468724	T	C	T14468724C	COPB1	NM_001144061.2(COPB1):c.2102A>G:p.Gln701Arg	coding	Pathogenic
11	14474581	A	C	A14474581C	COPB1	NM_001144061.2(COPB1):c.1651T>G:p.Phe551Val	coding	Pathogenic/Likely_pathogenic
11	14483031	C	A	C14483031A	COPB1	NM_001144061.2(COPB1):c.957+1G>T	noncoding	Pathogenic/Likely_pathogenic
11	14879098	G	A	G14879098A	CYP2R1	NM_024514.5(CYP2R1):c.1330+16C>T	noncoding	Benign
11	14879385	G	A	G14879385A	CYP2R1	NM_024514.5(CYP2R1):c.1059C>T:p.Asp353=	coding	Benign/Likely_benign
11	14880780	T	A	T14880780A	CYP2R1	NM_024514.5(CYP2R1):c.368-12A>T	noncoding	Benign
11	14885847	A	G	A14885847G	CYP2R1	NM_024514.5(CYP2R1):c.296T>C:p.Leu99Pro	coding	Pathogenic/Likely_pathogenic
11	14891971	G	A	G14891971A	CYP2R1	NM_024514.5(CYP2R1):c.225+10C>T	noncoding	Benign
11	14892029	G	A	G14892029A	CYP2R1	NM_024514.5(CYP2R1):c.177C>T:p.Ser59=	coding	Benign
11	15972839	A	G	A15972839G	SOX6	NM_001367873.1(SOX6):c.2457T>C:p.Asn819=	coding	Benign
11	15986197	T	C	T15986197C	SOX6	NM_001367873.1(SOX6):c.2183+7A>G	noncoding	Benign/Likely_benign
11	15986206	C	A	C15986206A	SOX6	NM_001367873.1(SOX6):c.2181G>T:p.Val727=	coding	Benign
11	15986310	G	A	G15986310A	SOX6	NM_001367873.1(SOX6):c.2077C>T:p.Arg693Ter	coding	Pathogenic
11	15986689	T	C	T15986689C	SOX6	NM_001367873.1(SOX6):c.1967-269A>G	noncoding	Benign
11	16018629	A	T	A16018629T	SOX6	NM_001367873.1(SOX6):c.1624-3579T>A	noncoding	Benign
11	16055785	T	C	T16055785C	SOX6	NM_001367873.1(SOX6):c.1218A>G:p.Glu406=	coding	Benign
11	16097617	G	A	G16097617A	SOX6	NM_001367873.1(SOX6):c.970C>T:p.Gln324Ter	coding	Pathogenic
11	16111867	A	G	A16111867G	SOX6	NM_001367873.1(SOX6):c.834T>C:p.Thr278=	coding	Benign
11	16183777	T	C	T16183777C	SOX6	NM_001367873.1(SOX6):c.777+109A>G	noncoding	Benign
11	16183943	T	C	T16183943C	SOX6	NM_001367873.1(SOX6):c.720A>G:p.Gln240=	coding	Benign
11	16183945	G	A	G16183945A	SOX6	NM_001367873.1(SOX6):c.718C>T:p.Gln240Ter	coding	Pathogenic
11	16183960	A	G	A16183960G	SOX6	NM_001367873.1(SOX6):c.709-6T>C	noncoding	Benign
11	16184049	C	T	C16184049T	SOX6	NM_001367873.1(SOX6):c.709-95G>A	noncoding	Benign
11	16186840	C	T	C16186840T	SOX6	NM_001367873.1(SOX6):c.651G>A:p.Ala217=	coding	Benign
11	16318510	A	C	A16318510C	SOX6	NM_001367873.1(SOX6):c.381T>G:p.Leu127=	coding	Benign
11	16318614	G	A	G16318614A	SOX6	NM_001367873.1(SOX6):c.277C>T:p.Arg93Ter	coding	Pathogenic
11	16341047	C	T	C16341047T	SOX6	NM_001367873.1(SOX6):c.202G>A:p.Asp68Asn	coding	Benign
11	16341387	T	C	T16341387C	SOX6	NM_001367873.1(SOX6):c.-4-135A>G	noncoding	Benign
11	16403109	G	C	G16403109C	SOX6	NM_033326.3(SOX6):c.-4-61857C>G	noncoding	Benign
11	16803000	T	C	T16803000C	PLEKHA7	NM_001329630.2(PLEKHA7):c.2129A>G:p.Asp710Gly	coding	Benign
11	17089725	A	G	A17089725G	PIK3C2A	NM_002645.4(PIK3C2A):c.*13T>C	noncoding	Benign
11	17091430	T	C	T17091430C	PIK3C2A	NM_002645.4(PIK3C2A):c.4782A>G:p.Pro1594=	coding	Benign
11	17097140	T	C	T17097140C	PIK3C2A	NM_002645.4(PIK3C2A):c.4243A>G:p.Thr1415Ala	coding	Benign
11	17097183	A	G	A17097183G	PIK3C2A	NM_002645.4(PIK3C2A):c.4200T>C:p.Gly1400=	coding	Benign
11	17099886	G	A	G17099886A	PIK3C2A	NM_002645.4(PIK3C2A):c.4092C>T:p.Asp1364=	coding	Benign
11	17102841	A	C	A17102841C	PIK3C2A	NM_002645.4(PIK3C2A):c.3682-10T>G	noncoding	Benign
11	17105123	C	T	C17105123T	PIK3C2A	NM_002645.4(PIK3C2A):c.3681+46G>A	noncoding	Benign
11	17145648	A	C	A17145648C	PIK3C2A	NM_002645.4(PIK3C2A):c.1704+20T>G	noncoding	Benign
11	17150586	T	C	T17150586C	PIK3C2A	NM_002645.4(PIK3C2A):c.1239A>G:p.Ala413=	coding	Benign
11	17168732	T	C	T17168732C	PIK3C2A	NM_002645.4(PIK3C2A):c.1010A>G:p.Gln337Arg	coding	Benign
11	17169131	G	A	G17169131A	PIK3C2A	NM_002645.4(PIK3C2A):c.611C>T:p.Thr204Ile	coding	Benign
11	17169469	A	G	A17169469G	PIK3C2A	NM_002645.4(PIK3C2A):c.273T>C:p.Asp91=	coding	Benign
11	17169472	A	G	A17169472G	PIK3C2A	NM_002645.4(PIK3C2A):c.270T>C:p.Ile90=	coding	Benign
11	17386704	G	A	G17386704A	KCNJ11	NM_000525.4(KCNJ11):c.*215C>T	noncoding	Benign/Likely_benign
11	17387091	C	T	C17387091T	KCNJ11	NM_000525.4(KCNJ11):c.1001G>A:p.Gly334Asp	coding	Benign
11	17387095	A	T	A17387095T	KCNJ11	NM_000525.4(KCNJ11):c.997T>A:p.Phe333Ile	coding	Benign
11	17387337	A	G	A17387337G	KCNJ11	NM_000525.4(KCNJ11):c.755T>C:p.Val252Ala	coding	Benign
11	17387548	T	C	T17387548C	KCNJ11	NM_000525.4(KCNJ11):c.544A>G:p.Ile182Val	coding	Benign
11	17387593	T	G	T17387593G	KCNJ11	NM_000525.4(KCNJ11):c.499A>C:p.Ile167Leu	coding	Benign
11	17387934	C	T	C17387934T	KCNJ11	NM_000525.4(KCNJ11):c.158G>A:p.Gly53Asp	coding	Benign
11	17387937	T	C	T17387937C	KCNJ11	NM_000525.4(KCNJ11):c.155A>G:p.Gln52Arg	coding	Benign
11	17387989	A	G	A17387989G	KCNJ11	NM_000525.4(KCNJ11):c.103T>C:p.Phe35Leu	coding	Benign
11	17387991	C	T	C17387991T	KCNJ11	NM_000525.4(KCNJ11):c.101G>A:p.Arg34His	coding	Pathogenic/Likely_pathogenic
11	17388025	T	C	T17388025C	ABCC8;KCNJ11	NM_000525.4(KCNJ11):c.67A>G:p.Lys23Glu	coding	Benign/Likely_benign
11	17388736	C	T	C17388736T	KCNJ11	NM_001166290.2(KCNJ11):c.-17+438G>A	noncoding	Benign
11	17393210	C	T	C17393210T	ABCC8	NM_000352.6(ABCC8):c.4609-82G>A	noncoding	Benign
11	17393596	A	C	A17393596C	ABCC8	NM_000352.6(ABCC8):c.4608+101T>G	noncoding	Benign
11	17393643	C	G	C17393643G	ABCC8	NM_000352.6(ABCC8):c.4608+54G>C	noncoding	Benign
11	17393696	C	T	C17393696T	ABCC8	NM_000352.6(ABCC8):c.4608+1G>A	noncoding	Pathogenic
11	17394267	G	A	G17394267A	ABCC8	NM_000352.6(ABCC8):c.4544C>T:p.Thr1515Met	coding	Pathogenic/Likely_pathogenic
11	17394296	G	C	G17394296C	ABCC8	NM_000352.6(ABCC8):c.4515C>G:p.Asp1505Glu	coding	Pathogenic
11	17394333	C	T	C17394333T	ABCC8	NM_000352.6(ABCC8):c.4478G>A:p.Arg1493Gln	coding	Pathogenic/Likely_pathogenic
11	17394412	C	T	C17394412T	ABCC8	NM_000352.6(ABCC8):c.4412-13G>A	noncoding	Pathogenic/Likely_pathogenic
11	17394578	G	A	G17394578A	ABCC8	NM_000352.6(ABCC8):c.4412-179C>T	noncoding	Benign
11	17395172	C	G	C17395172G	ABCC8	NM_000352.6(ABCC8):c.4411G>C:p.Asp1471His	coding	Pathogenic
11	17395213	G	A	G17395213A	ABCC8	NM_000352.6(ABCC8):c.4370C>T:p.Ala1457Val	coding	Pathogenic
11	17395214	C	T	C17395214T	ABCC8	NM_000352.6(ABCC8):c.4369G>A:p.Ala1457Thr	coding	Pathogenic
11	17395620	C	T	C17395620T	ABCC8	NM_000352.6(ABCC8):c.4297G>A:p.Gly1433Ser	coding	Pathogenic/Likely_pathogenic
11	17395665	G	A	G17395665A	ABCC8	NM_000352.6(ABCC8):c.4252C>T:p.Arg1418Cys	coding	Pathogenic
11	17395790	C	T	C17395790T	ABCC8	NM_000352.6(ABCC8):c.4198+62G>A	noncoding	Benign
11	17395852	C	T	C17395852T	ABCC8	NM_000352.6(ABCC8):c.4198G>A:p.Gly1400Arg	coding	Pathogenic/Likely_pathogenic
11	17395914	C	A	C17395914A	ABCC8	NM_000352.6(ABCC8):c.4136G>T:p.Arg1379Leu	coding	Pathogenic/Likely_pathogenic
11	17395914	C	T	C17395914T	ABCC8	NM_000352.6(ABCC8):c.4136G>A:p.Arg1379His	coding	Pathogenic/Likely_pathogenic
11	17396662	G	C	G17396662C	ABCC8	NM_000352.6(ABCC8):c.4119+254C>G	noncoding	Benign
11	17396976	G	T	G17396976T	ABCC8	NM_000352.6(ABCC8):c.4059C>A:p.Tyr1353Ter	coding	Pathogenic
11	17397191	A	G	A17397191G	ABCC8	NM_000352.6(ABCC8):c.3988+2T>C	noncoding	Pathogenic
11	17397527	G	A	G17397527A	ABCC8	NM_000352.6(ABCC8):c.3867+157C>T	noncoding	Benign
11	17397953	G	A	G17397953A	ABCC8	NM_000352.6(ABCC8):c.3754-156C>T	noncoding	Benign
11	17398070	G	T	G17398070T	ABCC8	NM_000352.6(ABCC8):c.3753+269C>A	noncoding	Benign
11	17398670	T	C	T17398670C	ABCC8	NM_000352.6(ABCC8):c.3651-229A>G	noncoding	Benign
11	17402848	G	A	G17402848A	ABCC8	NM_000352.6(ABCC8):c.3558-95C>T	noncoding	Benign
11	17402986	A	T	A17402986T	ABCC8	NM_000352.6(ABCC8):c.3558-233T>A	noncoding	Benign
11	17405500	G	A	G17405500A	ABCC8	NM_000352.6(ABCC8):c.3393C>T:p.Ile1131=	coding	Benign
11	17405789	G	C	G17405789C	ABCC8	NM_000352.6(ABCC8):c.3330-226C>G	noncoding	Benign
11	17405816	C	T	C17405816T	ABCC8	NM_000352.6(ABCC8):c.3330-253G>A	noncoding	Benign
11	17406315	G	A	G17406315A	ABCC8	NM_000352.6(ABCC8):c.3329+307C>T	noncoding	Benign
11	17406354	C	G	C17406354G	ABCC8	NM_000352.6(ABCC8):c.3329+268G>C	noncoding	Benign
11	17407050	G	T	G17407050T	ABCC8	NM_000352.6(ABCC8):c.3000C>A:p.Cys1000Ter	coding	Pathogenic
11	17408325	G	A	G17408325A	ABCC8	NM_000352.6(ABCC8):c.2820+67C>T	noncoding	Benign
11	17408412	G	A	G17408412A	ABCC8	NM_000352.6(ABCC8):c.2800C>T:p.Gln934Ter	coding	Pathogenic
11	17408769	G	T	G17408769T	ABCC8	NM_000352.6(ABCC8):c.2695-252C>A	noncoding	Benign
11	17410516	C	T	C17410516T	ABCC8	NM_000352.6(ABCC8):c.2694G>A:p.Trp898Ter	coding	Pathogenic
11	17410539	G	A	G17410539A	ABCC8	NM_000352.6(ABCC8):c.2671C>T:p.Gln891Ter	coding	Pathogenic
11	17413396	G	A	G17413396A	ABCC8	NM_000352.6(ABCC8):c.2473C>T:p.Arg825Trp	coding	Pathogenic
11	17413479	C	T	C17413479T	ABCC8	NM_000352.6(ABCC8):c.2391-1G>A	coding	Pathogenic
11	17413495	C	A	C17413495A	ABCC8	NM_000352.6(ABCC8):c.2391-17G>T	noncoding	Benign
11	17413667	G	A	G17413667A	ABCC8	NM_000352.6(ABCC8):c.2391-189C>T	noncoding	Benign
11	17414495	C	G	C17414495G	ABCC8	NM_000352.6(ABCC8):c.2390+17G>C	noncoding	Benign/Likely_benign
11	17414644	A	G	A17414644G	ABCC8	NM_000352.6(ABCC8):c.2292-34T>C	noncoding	Benign
11	17414646	G	A	G17414646A	ABCC8	NM_000352.6(ABCC8):c.2292-36C>T	noncoding	Benign
11	17414724	G	A	G17414724A	ABCC8	NM_000352.6(ABCC8):c.2292-114C>T	noncoding	Benign
11	17415021	A	T	A17415021T	ABCC8	NM_000352.6(ABCC8):c.2291+283T>A	noncoding	Benign
11	17415329	C	A	C17415329A	ABCC8	NM_000352.6(ABCC8):c.2266G>T:p.Glu756Ter	coding	Pathogenic
11	17415404	C	T	C17415404T	ABCC8	NM_000352.6(ABCC8):c.2256-65G>A	noncoding	Benign
11	17427415	C	T	C17427415T	ABCC8	NM_000352.6(ABCC8):c.2117-261G>A	noncoding	Benign
11	17427455	A	G	A17427455G	ABCC8	NM_000352.6(ABCC8):c.2117-301T>C	noncoding	Benign
11	17427722	C	A	C17427722A	ABCC8	NM_000352.6(ABCC8):c.2116+145G>T	noncoding	Benign
11	17427870	G	A	G17427870A	ABCC8	NM_000352.6(ABCC8):c.2113C>T:p.Arg705Ter	coding	Pathogenic
11	17428422	G	A	G17428422A	ABCC8	NM_000352.6(ABCC8):c.1924-17C>T	noncoding	Benign
11	17430547	G	T	G17430547T	ABCC8	NM_000352.6(ABCC8):c.1817+267C>A	noncoding	Benign
11	17430858	G	C	G17430858C	ABCC8	NM_000352.6(ABCC8):c.1773C>G:p.Phe591Leu	coding	Pathogenic
11	17431033	C	T	C17431033T	ABCC8	NM_000352.6(ABCC8):c.1672-74G>A	noncoding	Benign
11	17431056	T	G	T17431056G	ABCC8	NM_000352.6(ABCC8):c.1672-97A>C	noncoding	Benign
11	17431896	C	T	C17431896T	ABCC8	NM_000352.6(ABCC8):c.1671+308G>A	noncoding	Benign
11	17442774	G	A	G17442774A	ABCC8	NM_000352.6(ABCC8):c.1576C>T:p.Arg526Cys	coding	Pathogenic/Likely_pathogenic
11	17442849	C	T	C17442849T	ABCC8	NM_000352.6(ABCC8):c.1501G>A:p.Glu501Lys	coding	Pathogenic/Likely_pathogenic
11	17442987	T	C	T17442987C	ABCC8	NM_000352.6(ABCC8):c.1468-105A>G	noncoding	Benign
11	17443192	G	A	G17443192A	ABCC8	NM_000352.6(ABCC8):c.1453C>T:p.Gln485Ter	coding	Pathogenic
11	17443276	C	A	C17443276A	ABCC8	NM_000352.6(ABCC8):c.1369G>T:p.Gly457Ter	coding	Pathogenic
11	17443640	C	T	C17443640T	ABCC8	NM_000352.6(ABCC8):c.1333-328G>A	noncoding	Benign
11	17444140	G	T	G17444140T	ABCC8	NM_000352.6(ABCC8):c.1333-828C>A	noncoding	Benign
11	17444498	A	C	A17444498C	ABCC8	NM_000352.6(ABCC8):c.1333-1186T>G	noncoding	Benign
11	17444577	T	C	T17444577C	ABCC8	NM_000352.6(ABCC8):c.1333-1265A>G	noncoding	Benign
11	17448207	C	T	C17448207T	ABCC8	NM_000352.6(ABCC8):c.1332+309G>A	noncoding	Benign
11	17448488	C	T	C17448488T	ABCC8	NM_000352.6(ABCC8):c.1332+28G>A	noncoding	Benign
11	17448516	C	A	C17448516A	ABCC8	NM_000352.6(ABCC8):c.1332G>T:p.Gln444His	coding	Pathogenic
11	17448518	G	A	G17448518A	ABCC8	NM_000352.6(ABCC8):c.1330C>T:p.Gln444Ter	coding	Pathogenic
11	17453430	A	C	A17453430C	ABCC8	NM_000352.6(ABCC8):c.1012-147T>G	noncoding	Benign
11	17453600	T	C	T17453600C	ABCC8	NM_000352.6(ABCC8):c.1012-317A>G	noncoding	Benign
11	17460265	G	A	G17460265A	ABCC8	NM_000352.6(ABCC8):c.1011+223C>T	noncoding	Benign
11	17460401	T	C	T17460401C	ABCC8	NM_000352.6(ABCC8):c.1011+87A>G	noncoding	Benign
11	17460487	C	A	C17460487A	ABCC8	NM_000352.6(ABCC8):c.1011+1G>T	noncoding	Pathogenic
11	17460496	G	A	G17460496A	ABCC8	NM_000352.6(ABCC8):c.1003C>T:p.Gln335Ter	coding	Pathogenic
11	17460514	T	A	T17460514A	ABCC8	NM_000352.6(ABCC8):c.985A>T:p.Lys329Ter	coding	Pathogenic
11	17460529	C	T	C17460529T	ABCC8	NM_000352.6(ABCC8):c.970G>A:p.Val324Met	coding	Pathogenic
11	17460636	C	T	C17460636T	ABCC8	NM_000352.6(ABCC8):c.863G>A:p.Trp288Ter	coding	Pathogenic
11	17460781	T	C	T17460781C	ABCC8	NM_000352.6(ABCC8):c.823-105A>G	noncoding	Benign
11	17460782	G	A	G17460782A	ABCC8	NM_000352.6(ABCC8):c.823-106C>T	noncoding	Benign
11	17460783	G	T	G17460783T	ABCC8	NM_000352.6(ABCC8):c.823-107C>A	noncoding	Benign
11	17461491	C	T	C17461491T	ABCC8	NM_000352.6(ABCC8):c.822+92G>A	noncoding	Benign
11	17461615	G	A	G17461615A	ABCC8	NM_000352.6(ABCC8):c.790C>T:p.Gln264Ter	coding	Pathogenic
11	17461709	C	T	C17461709T	ABCC8	NM_000352.6(ABCC8):c.696G>A:p.Trp232Ter	coding	Pathogenic
11	17461750	G	A	G17461750A	ABCC8	NM_000352.6(ABCC8):c.655C>T:p.Gln219Ter	coding	Pathogenic
11	17462139	A	G	A17462139G	ABCC8	NM_000352.6(ABCC8):c.580-314T>C	noncoding	Benign
11	17463184	C	T	C17463184T	ABCC8	NM_000352.6(ABCC8):c.579+254G>A	noncoding	Benign
11	17463234	C	G	C17463234G	ABCC8	NM_000352.6(ABCC8):c.579+204G>C	noncoding	Benign
11	17463515	G	A	G17463515A	ABCC8	NM_000352.6(ABCC8):c.502C>T:p.Arg168Cys	coding	Pathogenic
11	17463523	G	T	G17463523T	ABCC8	NM_000352.6(ABCC8):c.494C>A:p.Ser165Ter	coding	Pathogenic
11	17463589	C	T	C17463589T	ABCC8	NM_000352.6(ABCC8):c.428G>A:p.Trp143Ter	coding	Pathogenic
11	17463922	C	T	C17463922T	ABCC8	NM_000352.6(ABCC8):c.413-318G>A	noncoding	Benign
11	17469789	T	G	T17469789G	ABCC8	NM_000352.6(ABCC8):c.412+312A>C	noncoding	Benign
11	17469839	A	T	A17469839T	ABCC8	NM_000352.6(ABCC8):c.412+262T>A	noncoding	Benign
11	17469862	C	T	C17469862T	ABCC8	NM_000352.6(ABCC8):c.412+239G>A	noncoding	Benign
11	17469893	C	T	C17469893T	ABCC8	NM_000352.6(ABCC8):c.412+208G>A	noncoding	Benign
11	17470024	C	T	C17470024T	ABCC8	NM_000352.6(ABCC8):c.412+77G>A	noncoding	Benign
11	17470284	C	A	C17470284A	ABCC8	NM_000352.6(ABCC8):c.291-62G>T	noncoding	Benign
11	17470364	G	A	G17470364A	ABCC8	NM_000352.6(ABCC8):c.291-142C>T	noncoding	Benign
11	17470465	G	T	G17470465T	ABCC8	NM_000352.6(ABCC8):c.291-243C>A	noncoding	Benign
11	17475183	A	G	A17475183G	ABCC8	NM_000352.6(ABCC8):c.149-156T>C	noncoding	Benign
11	17476321	T	A	T17476321A	ABCC8	NM_000352.6(ABCC8):c.148+308A>T	noncoding	Benign
11	17476510	G	A	G17476510A	ABCC8	NM_000352.6(ABCC8):c.148+119C>T	noncoding	Benign
11	17476701	A	T	A17476701T	ABCC8	NM_000352.6(ABCC8):c.76T>A:p.Cys26Ser	coding	Pathogenic/Likely_pathogenic
11	17476732	G	C	G17476732C	ABCC8	NM_000352.6(ABCC8):c.45C>G:p.Tyr15Ter	coding	Pathogenic
11	17477214	T	A	T17477214A	ABCC8	Single_allele	noncoding	Benign
11	17494491	C	T	C17494491T	USH1C	NM_153676.4(USH1C):c.2656-115G>A	noncoding	Benign
11	17495305	A	G	A17495305G	USH1C	NM_153676.4(USH1C):c.2655+264T>C	noncoding	Benign
11	17495389	G	T	G17495389T	USH1C	NM_153676.4(USH1C):c.2655+180C>A	noncoding	Benign
11	17496633	T	C	T17496633C	USH1C	NM_153676.4(USH1C):c.2546+125A>G	noncoding	Benign
11	17496829	G	A	G17496829A	USH1C	NM_153676.4(USH1C):c.2491-16C>T	noncoding	Benign
11	17501537	T	C	T17501537C	USH1C	NM_153676.4(USH1C):c.2227-2A>G	noncoding	Pathogenic
11	17501548	A	G	A17501548G	USH1C	NM_153676.4(USH1C):c.2227-13T>C	noncoding	Benign
11	17504393	G	C	G17504393C	USH1C	NM_153676.4(USH1C):c.2184+254C>G	noncoding	Benign
11	17510284	A	T	A17510284T	USH1C	NM_153676.4(USH1C):c.1530+121T>A	noncoding	Benign
11	17511850	G	A	G17511850A	USH1C	NM_153676.4(USH1C):c.1413+52C>T	noncoding	Benign
11	17516158	G	C	G17516158C	USH1C	NM_153676.4(USH1C):c.1260+83C>G	noncoding	Benign
11	17516501	G	A	G17516501A	USH1C	NM_153676.4(USH1C):c.1211-211C>T	noncoding	Benign
11	17517225	C	T	C17517225T	USH1C	NM_153676.4(USH1C):c.1211-935G>A	noncoding	Benign
11	17517460	C	A	C17517460A	USH1C	NM_005709.4(USH1C):c.1225G>T:p.Glu409Ter	coding	Pathogenic
11	17517539	G	A	G17517539A	USH1C	NM_153676.4(USH1C):c.1211-1249C>T	noncoding	Benign
11	17517665	T	C	T17517665C	USH1C	NM_153676.4(USH1C):c.1211-1375A>G	noncoding	Benign
11	17520712	C	G	C17520712G	USH1C	NM_153676.4(USH1C):c.1210+158G>C	noncoding	Benign
11	17520981	C	A	C17520981A	USH1C	NM_153676.4(USH1C):c.1099G>T:p.Glu367Ter	coding	Pathogenic
11	17521392	G	A	G17521392A	USH1C	NM_153676.4(USH1C):c.1039C>T:p.Gln347Ter	coding	Pathogenic/Likely_pathogenic
11	17521401	C	A	C17521401A	USH1C	NM_153676.4(USH1C):c.1030G>T:p.Glu344Ter	coding	Pathogenic
11	17521453	G	A	G17521453A	USH1C	NM_153676.4(USH1C):c.1020-42C>T	noncoding	Benign
11	17521656	G	C	G17521656C	USH1C	NM_153676.4(USH1C):c.1020-245C>G	noncoding	Benign
11	17522557	G	A	G17522557A	USH1C	NM_153676.4(USH1C):c.1019+227C>T	noncoding	Benign
11	17522562	G	C	G17522562C	USH1C	NM_153676.4(USH1C):c.1019+222C>G	noncoding	Benign
11	17523178	C	T	C17523178T	USH1C	NM_153676.4(USH1C):c.876+33G>A	noncoding	Benign
11	17524307	T	C	T17524307C	USH1C	NM_153676.4(USH1C):c.759+144A>G	noncoding	Benign
11	17524431	G	A	G17524431A	USH1C	NM_153676.4(USH1C):c.759+20C>T	noncoding	Benign/Likely_benign
11	17524631	G	A	G17524631A	USH1C	NM_153676.4(USH1C):c.675-96C>T	noncoding	Benign
11	17524668	C	T	C17524668T	USH1C	NM_153676.4(USH1C):c.675-133G>A	noncoding	Benign
11	17524726	A	C	A17524726C	USH1C	NM_153676.4(USH1C):c.675-191T>G	noncoding	Benign
11	17524793	C	T	C17524793T	USH1C	NM_153676.4(USH1C):c.675-258G>A	noncoding	Benign
11	17524795	A	C	A17524795C	USH1C	NM_153676.4(USH1C):c.675-260T>G	noncoding	Benign
11	17526363	G	A	G17526363A	USH1C	NM_153676.4(USH1C):c.658C>T:p.Arg220Ter	coding	Pathogenic
11	17526435	G	A	G17526435A	USH1C	NM_153676.4(USH1C):c.586C>T:p.Arg196Ter	coding	Pathogenic
11	17526586	T	C	T17526586C	USH1C	NM_153676.4(USH1C):c.580-145A>G	noncoding	Benign
11	17526589	G	A	G17526589A	USH1C	NM_153676.4(USH1C):c.580-148C>T	noncoding	Benign
11	17526637	A	G	A17526637G	USH1C	NM_153676.4(USH1C):c.579+116T>C	noncoding	Benign
11	17526639	C	T	C17526639T	USH1C	NM_153676.4(USH1C):c.579+114G>A	noncoding	Benign
11	17526661	G	A	G17526661A	USH1C	NM_153676.4(USH1C):c.579+92C>T	noncoding	Benign
11	17526692	C	T	C17526692T	USH1C	NM_153676.4(USH1C):c.579+61G>A	noncoding	Benign
11	17526722	C	G	C17526722G	USH1C	NM_153676.4(USH1C):c.579+31G>C	noncoding	Benign
11	17526751	A	C	A17526751C	USH1C	NM_153676.4(USH1C):c.579+2T>G	noncoding	Pathogenic
11	17526752	C	G	C17526752G	USH1C	NM_153676.4(USH1C):c.579+1G>C	noncoding	Pathogenic/Likely_pathogenic
11	17526960	T	C	T17526960C	USH1C	NM_153676.4(USH1C):c.521+56A>G	noncoding	Benign
11	17527256	G	A	G17527256A	USH1C	NM_153676.4(USH1C):c.463C>T:p.Arg155Ter	coding	Pathogenic/Likely_pathogenic
11	17531177	G	A	G17531177A	USH1C	NM_153676.4(USH1C):c.364C>T:p.Gln122Ter	coding	Pathogenic
11	17532963	C	A	C17532963A	USH1C	NM_153676.4(USH1C):c.104+292G>T	noncoding	Benign
11	17544434	G	A	G17544434A	USH1C	Single_allele	noncoding	Benign
11	17544747	T	C	T17544747C	USH1C	Single_allele	noncoding	Benign
11	17547064	A	G	A17547064G	OTOG	Single_allele	noncoding	Benign
11	17547845	C	G	C17547845G	OTOG	NM_001292063.2(OTOG):c.95-82C>G	noncoding	Benign
11	17547980	C	G	C17547980G	OTOG	NM_001292063.2(OTOG):c.148C>G:p.Gln50Glu	coding	Benign
11	17548338	A	G	A17548338G	OTOG	NM_001292063.2(OTOG):c.216+126A>G	noncoding	Benign
11	17551782	G	A	G17551782A	OTOG	NM_001292063.2(OTOG):c.217-218G>A	noncoding	Benign
11	17552202	C	G	C17552202G	OTOG	NM_001292063.2(OTOG):c.292+127C>G	noncoding	Benign
11	17552825	C	T	C17552825T	OTOG	NM_001292063.2(OTOG):c.293-294C>T	noncoding	Benign
11	17553041	T	C	T17553041C	OTOG	NM_001292063.2(OTOG):c.293-78T>C	noncoding	Benign
11	17553405	G	A	G17553405A	OTOG	NM_001292063.2(OTOG):c.426G>A:p.Ala142=	coding	Benign/Likely_benign
11	17553495	C	T	C17553495T	OTOG	NM_001292063.2(OTOG):c.516C>T:p.Pro172=	coding	Benign/Likely_benign
11	17555538	G	A	G17555538A	OTOG	NM_001292063.2(OTOG):c.541-241G>A	noncoding	Benign
11	17555676	C	T	C17555676T	OTOG	NM_001292063.2(OTOG):c.541-103C>T	noncoding	Benign
11	17555691	G	A	G17555691A	OTOG	NM_001292063.2(OTOG):c.541-88G>A	noncoding	Benign
11	17558244	C	T	C17558244T	OTOG	NM_001292063.2(OTOG):c.925C>T:p.Gln309Ter	coding	Pathogenic
11	17558316	G	T	G17558316T	OTOG	NM_001292063.2(OTOG):c.996+1G>T	coding	Pathogenic
11	17558393	C	G	C17558393G	OTOG	NM_001292063.2(OTOG):c.996+78C>G	noncoding	Benign
11	17558888	G	A	G17558888A	OTOG	NM_001292063.2(OTOG):c.1104-164G>A	noncoding	Benign
11	17558984	A	G	A17558984G	OTOG	NM_001292063.2(OTOG):c.1104-68A>G	noncoding	Benign
11	17559146	C	T	C17559146T	OTOG	NM_001292063.2(OTOG):c.1198C>T:p.Gln400Ter	coding	Pathogenic
11	17559175	A	C	A17559175C	OTOG	NM_001292063.2(OTOG):c.1213+14A>C	noncoding	Benign/Likely_benign
11	17559451	T	C	T17559451C	OTOG	NM_001292063.2(OTOG):c.1214-83T>C	noncoding	Benign
11	17559452	C	T	C17559452T	OTOG	NM_001292063.2(OTOG):c.1214-82C>T	noncoding	Benign
11	17559680	G	A	G17559680A	OTOG	NM_001292063.2(OTOG):c.1342+18G>A	noncoding	Benign
11	17559730	G	A	G17559730A	OTOG	NM_001292063.2(OTOG):c.1342+68G>A	noncoding	Benign
11	17560404	C	T	C17560404T	OTOG	NM_001292063.2(OTOG):c.1343-305C>T	noncoding	Benign
11	17560412	C	T	C17560412T	OTOG	NM_001292063.2(OTOG):c.1343-297C>T	noncoding	Benign
11	17561229	G	A	G17561229A	OTOG	NM_001292063.2(OTOG):c.1498+92G>A	noncoding	Benign
11	17568850	A	C	A17568850C	OTOG	NM_001292063.2(OTOG):c.1645-306A>C	noncoding	Benign
11	17569093	C	T	C17569093T	OTOG	NM_001292063.2(OTOG):c.1645-63C>T	noncoding	Benign
11	17569131	C	T	C17569131T	OTOG	NM_001292063.2(OTOG):c.1645-25C>T	noncoding	Benign
11	17570414	C	T	C17570414T	OTOG	NM_001292063.2(OTOG):c.1955+24C>T	noncoding	Benign
11	17571782	C	T	C17571782T	OTOG	NM_001292063.2(OTOG):c.1956-298C>T	noncoding	Benign
11	17572255	C	T	C17572255T	OTOG	NM_001292063.2(OTOG):c.2080+51C>T	noncoding	Benign
11	17572361	T	G	T17572361G	OTOG	NM_001292063.2(OTOG):c.2080+157T>G	noncoding	Benign
11	17572424	T	C	T17572424C	OTOG	NM_001292063.2(OTOG):c.2080+220T>C	noncoding	Benign
11	17572537	C	G	C17572537G	OTOG	NM_001292063.2(OTOG):c.2080+333C>G	noncoding	Benign
11	17572966	A	T	A17572966T	OTOG	NM_001292063.2(OTOG):c.2081-112A>T	noncoding	Benign
11	17573350	C	T	C17573350T	OTOG	NM_001292063.2(OTOG):c.2293+60C>T	noncoding	Benign
11	17573365	G	C	G17573365C	OTOG	NM_001292063.2(OTOG):c.2293+75G>C	noncoding	Benign
11	17574469	G	A	G17574469A	OTOG	NM_001292063.2(OTOG):c.2294-251G>A	noncoding	Benign
11	17574757	C	T	C17574757T	OTOG	NM_001292063.2(OTOG):c.2331C>T:p.Cys777=	coding	Benign
11	17576275	C	T	C17576275T	OTOG	NM_001292063.2(OTOG):c.2487-281C>T	noncoding	Benign
11	17576455	C	T	C17576455T	OTOG	NM_001292063.2(OTOG):c.2487-101C>T	noncoding	Benign
11	17577094	C	T	C17577094T	OTOG	NM_001292063.2(OTOG):c.2605+183C>T	noncoding	Benign
11	17578180	G	A	G17578180A	OTOG	NM_001292063.2(OTOG):c.2606-193G>A	noncoding	Benign
11	17578252	G	A	G17578252A	OTOG	NM_001292063.2(OTOG):c.2606-121G>A	noncoding	Benign
11	17578649	C	T	C17578649T	OTOG	NM_001292063.2(OTOG):c.2759+123C>T	noncoding	Benign
11	17578712	G	A	G17578712A	OTOG	NM_001292063.2(OTOG):c.2759+186G>A	noncoding	Benign
11	17591189	G	C	G17591189C	OTOG	NM_001292063.2(OTOG):c.2868-261G>C	noncoding	Benign
11	17591229	C	T	C17591229T	OTOG	NM_001292063.2(OTOG):c.2868-221C>T	noncoding	Benign
11	17591341	T	A	T17591341A	OTOG	NM_001292063.2(OTOG):c.2868-109T>A	noncoding	Benign
11	17591425	T	G	T17591425G	OTOG	NM_001292063.2(OTOG):c.2868-25T>G	noncoding	Benign
11	17591599	G	A	G17591599A	OTOG	NM_001292063.2(OTOG):c.3006+11G>A	noncoding	Benign/Likely_benign
11	17591801	A	G	A17591801G	OTOG	NM_001292063.2(OTOG):c.3006+213A>G	noncoding	Benign
11	17592866	G	T	G17592866T	OTOG	NM_001292063.2(OTOG):c.3007-327G>T	noncoding	Benign
11	17592992	C	T	C17592992T	OTOG	NM_001292063.2(OTOG):c.3007-201C>T	noncoding	Benign
11	17593654	G	A	G17593654A	OTOG	NM_001292063.2(OTOG):c.3186G>A:p.Trp1062Ter	coding	Pathogenic
11	17593752	G	A	G17593752A	OTOG	NM_001292063.2(OTOG):c.3284G>A:p.Trp1095Ter	coding	Pathogenic
11	17593877	G	A	G17593877A	OTOG	NM_001292063.2(OTOG):c.3288+121G>A	noncoding	Benign
11	17594488	G	C	G17594488C	OTOG	NM_001292063.2(OTOG):c.3408+322G>C	noncoding	Benign
11	17595921	A	G	A17595921G	OTOG	NM_001292063.2(OTOG):c.3409-117A>G	noncoding	Benign
11	17596173	C	T	C17596173T	OTOG	NM_001292063.2(OTOG):c.3525+19C>T	noncoding	Benign
11	17596751	C	T	C17596751T	OTOG	NM_001292063.2(OTOG):c.3526-100C>T	noncoding	Benign
11	17597193	A	G	A17597193G	OTOG	NM_001292063.2(OTOG):c.3682+186A>G	noncoding	Benign
11	17599521	A	G	A17599521G	OTOG	NM_001292063.2(OTOG):c.3683-150A>G	noncoding	Benign
11	17599716	C	T	C17599716T	OTOG	NM_001292063.2(OTOG):c.3709+19C>T	noncoding	Benign
11	17602576	C	T	C17602576T	OTOG	NM_001292063.2(OTOG):c.3877+199C>T	noncoding	Benign
11	17605952	C	T	C17605952T	OTOG	NM_001292063.2(OTOG):c.3973C>T:p.Arg1325Cys	coding	Benign
11	17605981	C	T	C17605981T	OTOG	NM_001292063.2(OTOG):c.4002C>T:p.Phe1334=	coding	Benign/Likely_benign
11	17608020	G	A	G17608020A	OTOG	NM_001292063.2(OTOG):c.4157-276G>A	noncoding	Benign
11	17608638	C	A	C17608638A	OTOG	NM_001292063.2(OTOG):c.4274+225C>A	noncoding	Benign
11	17609164	C	T	C17609164T	OTOG	NM_001292063.2(OTOG):c.4309C>T:p.Gln1437Ter	coding	Pathogenic
11	17609500	G	A	G17609500A	OTOG	NM_001292063.2(OTOG):c.4355-155G>A	noncoding	Benign
11	17609544	C	T	C17609544T	OTOG	NM_001292063.2(OTOG):c.4355-111C>T	noncoding	Benign
11	17611007	C	T	C17611007T	OTOG	NM_001292063.2(OTOG):c.5707C>T:p.Arg1903Ter	coding	Pathogenic
11	17611465	T	C	T17611465C	OTOG	NM_001292063.2(OTOG):c.6123+42T>C	noncoding	Benign
11	17611569	C	A	C17611569A	OTOG	NM_001292063.2(OTOG):c.6123+146C>A	noncoding	Benign
11	17612005	C	G	C17612005G	OTOG	NM_001292063.2(OTOG):c.6124-157C>G	noncoding	Benign
11	17613370	T	C	T17613370C	OTOG	NM_001292063.2(OTOG):c.6439-242T>C	noncoding	Benign
11	17613374	C	T	C17613374T	OTOG	NM_001292063.2(OTOG):c.6439-238C>T	noncoding	Benign
11	17613716	C	G	C17613716G	OTOG	NM_001292063.2(OTOG):c.6528+15C>G	noncoding	Benign
11	17629241	C	T	C17629241T	OTOG	NM_001292063.2(OTOG):c.6637C>T:p.Gln2213Ter	coding	Pathogenic
11	17629501	A	G	A17629501G	OTOG	NM_001292063.2(OTOG):c.6712+185A>G	noncoding	Benign
11	17631391	G	T	G17631391T	OTOG	NM_001292063.2(OTOG):c.6713-311G>T	noncoding	Benign
11	17632025	A	G	A17632025G	OTOG	NM_001292063.2(OTOG):c.6934-63A>G	noncoding	Benign
11	17632036	A	G	A17632036G	OTOG	NM_001292063.2(OTOG):c.6934-52A>G	noncoding	Benign
11	17632199	A	G	A17632199G	OTOG	NM_001292063.2(OTOG):c.7045A>G:p.Ile2349Val	coding	Benign/Likely_benign
11	17632246	G	A	G17632246A	OTOG	NM_001292063.2(OTOG):c.7072+20G>A	noncoding	Benign
11	17633787	C	T	C17633787T	OTOG	NM_001292063.2(OTOG):c.7180C>T:p.Gln2394Ter	coding	Pathogenic
11	17633836	G	A	G17633836A	OTOG	NM_001292063.2(OTOG):c.7229G>A:p.Arg2410Gln	coding	Benign
11	17633861	G	A	G17633861A	OTOG	NM_001292063.2(OTOG):c.7254G>A:p.Pro2418=	coding	Benign/Likely_benign
11	17634067	A	T	A17634067T	OTOG	NM_001292063.2(OTOG):c.7268-2A>T	noncoding	Pathogenic
11	17634601	A	G	A17634601G	OTOG	NM_001292063.2(OTOG):c.7481-243A>G	noncoding	Benign
11	17634960	G	A	G17634960A	OTOG	NM_001292063.2(OTOG):c.7585+12G>A	noncoding	Benign/Likely_benign
11	17635124	C	T	C17635124T	OTOG	NM_001292063.2(OTOG):c.7630C>T:p.Arg2544Ter	coding	Pathogenic
11	17635201	A	T	A17635201T	OTOG	NM_001292063.2(OTOG):c.7693+14A>T	noncoding	Benign/Likely_benign
11	17635246	C	T	C17635246T	OTOG	NM_001292063.2(OTOG):c.7693+59C>T	noncoding	Benign
11	17635485	A	G	A17635485G	OTOG	NM_001292063.2(OTOG):c.7694-125A>G	noncoding	Benign
11	17635592	G	T	G17635592T	OTOG	NM_001292063.2(OTOG):c.7694-18G>T	noncoding	Benign
11	17635927	C	T	C17635927T	OTOG	NM_001292063.2(OTOG):c.7795+216C>T	noncoding	Benign
11	17638164	C	T	C17638164T	OTOG	NM_001292063.2(OTOG):c.7796-287C>T	noncoding	Benign
11	17639576	G	A	G17639576A	OTOG	NM_001292063.2(OTOG):c.7935+113G>A	noncoding	Benign
11	17640632	C	T	C17640632T	OTOG	NM_001292063.2(OTOG):c.7936-113C>T	noncoding	Benign
11	17641110	C	T	C17641110T	OTOG	NM_001292063.2(OTOG):c.8190+19C>T	noncoding	Benign
11	17641253	A	G	A17641253G	OTOG	NM_001292063.2(OTOG):c.8190+162A>G	noncoding	Benign
11	17641679	T	C	T17641679C	OTOG	NM_001292063.2(OTOG):c.8191-168T>C	noncoding	Benign
11	17641966	C	T	C17641966T	OTOG	NM_001292063.2(OTOG):c.8295+15C>T	noncoding	Benign
11	17642315	A	G	A17642315G	OTOG	NM_001292063.2(OTOG):c.8415+69A>G	noncoding	Benign
11	17642558	T	G	T17642558G	OTOG	NM_001292063.2(OTOG):c.8415+312T>G	noncoding	Benign
11	17643256	C	T	C17643256T	OTOG	NM_001292063.2(OTOG):c.8416-205C>T	noncoding	Benign
11	17643445	G	A	G17643445A	OTOG	NM_001292063.2(OTOG):c.8416-16G>A	noncoding	Benign
11	17645574	T	C	T17645574C	OTOG	NM_001292063.2(OTOG):c.8472T>C:p.Asp2824=	coding	Benign/Likely_benign
11	17646014	G	T	G17646014T	OTOG	NM_001292063.2(OTOG):c.*70G>T	noncoding	Benign
11	17735870	C	A	C17735870A	KCNC1	NM_001112741.2(KCNC1):c.-133C>A	noncoding	Benign
11	17736591	A	T	A17736591T	KCNC1	NM_001112741.2(KCNC1):c.570+19A>T	noncoding	Benign/Likely_benign
11	17771443	T	C	T17771443C	KCNC1	NM_001112741.2(KCNC1):c.571-222T>C	noncoding	Benign
11	17771777	G	T	G17771777T	KCNC1	NM_001112741.2(KCNC1):c.683G>T:p.Arg228Leu	coding	Benign/Likely_benign
11	17772006	G	A	G17772006A	KCNC1	NM_001112741.2(KCNC1):c.912G>A:p.Lys304=	coding	Benign/Likely_benign
11	17772290	C	T	C17772290T	KCNC1	NM_001112741.2(KCNC1):c.1196C>T:p.Thr399Met	coding	Pathogenic/Likely_pathogenic
11	17772387	C	G	C17772387G	KCNC1	NM_001112741.2(KCNC1):c.1293C>G:p.Pro431=	coding	Benign
11	17772627	C	T	C17772627T	KCNC1	NM_001112741.2(KCNC1):c.1504+29C>T	coding	Benign
11	17779376	C	A	C17779376A	KCNC1	NM_001112741.2(KCNC1):c.1505-80C>A	noncoding	Benign
11	17779535	C	T	C17779535T	KCNC1	NM_001112741.2(KCNC1):c.1584C>T:p.Pro528=	coding	Benign
11	17779580	C	T	C17779580T	KCNC1	NM_001112741.2(KCNC1):c.1629C>T:p.Tyr543=	coding	Benign
11	17779610	G	T	G17779610T	KCNC1	NM_001112741.2(KCNC1):c.1659G>T:p.Glu553Asp	coding	Benign/Likely_benign
11	17779673	A	G	A17779673G	KCNC1	NM_001112741.2(KCNC1):c.1693+29A>G	noncoding	Benign
11	17779690	G	A	G17779690A	KCNC1	NM_001112741.2(KCNC1):c.1693+46G>A	noncoding	Benign
11	17781626	C	T	C17781626T	KCNC1	NM_001112741.2(KCNC1):c.1694-44C>T	noncoding	Benign
11	18269312	C	T	C18269312T	SAA1	NM_199161.5(SAA1):c.209C>T:p.Ala70Val	coding	Benign/Likely_benign
11	18269327	T	C	T18269327C	SAA1	NM_199161.5(SAA1):c.224T>C:p.Val75Ala	coding	Benign
11	18280058	T	C	T18280058C	HPS5	NM_181507.2(HPS5):c.3330-116A>G	noncoding	Benign
11	18281857	C	T	C18281857T	HPS5	NM_181507.2(HPS5):c.3329+93G>A	noncoding	Benign
11	18282216	C	T	C18282216T	HPS5	NM_181507.2(HPS5):c.3063G>A:p.Trp1021Ter	coding	Pathogenic
11	18284210	G	C	G18284210C	HPS5	NM_181507.2(HPS5):c.2952-309C>G	noncoding	Benign
11	18285498	T	C	T18285498C	HPS5	NM_181507.2(HPS5):c.2838-39A>G	noncoding	Benign
11	18287571	A	C	A18287571C	HPS5	NM_181507.2(HPS5):c.2681T>G:p.Leu894Ter	coding	Pathogenic
11	18288153	A	G	A18288153G	HPS5	NM_181507.2(HPS5):c.2441-140T>C	noncoding	Benign
11	18291391	A	G	A18291391G	HPS5	NM_181507.2(HPS5):c.2440+51T>C	noncoding	Benign
11	18291922	T	A	T18291922A	HPS5	NM_181507.2(HPS5):c.1960A>T:p.Lys654Ter	coding	Pathogenic
11	18292190	T	G	T18292190G	HPS5	NM_181507.2(HPS5):c.1863-171A>C	noncoding	Benign
11	18292930	G	A	G18292930A	HPS5	NM_181507.2(HPS5):c.1831C>T:p.Gln611Ter	coding	Pathogenic
11	18294702	T	C	T18294702C	HPS5	NM_181507.2(HPS5):c.1784+318A>G	noncoding	Benign
11	18294766	C	T	C18294766T	HPS5	NM_181507.2(HPS5):c.1784+254G>A	noncoding	Benign
11	18295911	T	A	T18295911A	HPS5	NM_181507.2(HPS5):c.1634+88A>T	noncoding	Benign
11	18296317	C	A	C18296317A	HPS5	NM_181507.2(HPS5):c.1511-195G>T	noncoding	Benign
11	18296740	G	A	G18296740A	HPS5	NM_181507.2(HPS5):c.1510+58C>T	noncoding	Benign
11	18297542	A	T	A18297542T	HPS5	NM_181507.2(HPS5):c.1323+17T>A	noncoding	Benign
11	18297737	A	G	A18297737G	HPS5	NM_181507.2(HPS5):c.1165-20T>C	noncoding	Benign
11	18298605	G	T	G18298605T	HPS5	NM_181507.2(HPS5):c.1164+187C>A	noncoding	Benign
11	18299010	A	C	A18299010C	HPS5	NM_181507.2(HPS5):c.986-40T>G	noncoding	Benign
11	18299153	G	A	G18299153A	HPS5	NM_181507.2(HPS5):c.986-183C>T	noncoding	Benign
11	18300832	G	T	G18300832T	HPS5	NM_181507.2(HPS5):c.981C>A:p.Val327=	coding	Benign
11	18300855	G	C	G18300855C	HPS5	NM_181507.2(HPS5):c.958C>G:p.Gln320Glu	coding	Benign
11	18305162	G	C	G18305162C	HPS5	NM_181507.2(HPS5):c.896+260C>G	noncoding	Benign
11	18305165	G	A	G18305165A	HPS5	NM_181507.2(HPS5):c.896+257C>T	noncoding	Benign
11	18305211	C	T	C18305211T	HPS5	NM_181507.2(HPS5):c.896+211G>A	noncoding	Benign
11	18305278	C	T	C18305278T	HPS5	NM_181507.2(HPS5):c.896+144G>A	noncoding	Benign
11	18305509	A	G	A18305509G	HPS5	NM_181507.2(HPS5):c.825-16T>C	noncoding	Benign/Likely_benign
11	18305575	T	G	T18305575G	HPS5	NM_181507.2(HPS5):c.825-82A>C	noncoding	Benign
11	18305701	C	T	C18305701T	HPS5	NM_181507.2(HPS5):c.825-208G>A	noncoding	Benign
11	18306101	T	G	T18306101G	HPS5	NM_181507.2(HPS5):c.824+34A>C	noncoding	Benign/Likely_benign
11	18308975	A	G	A18308975G	HPS5	NM_181507.2(HPS5):c.582T>C:p.Leu194=	coding	Benign
11	18311177	C	A	C18311177A	HPS5	NM_181507.2(HPS5):c.284+210G>T	noncoding	Benign
11	18311360	A	C	A18311360C	HPS5	NM_181507.2(HPS5):c.284+27T>G	noncoding	Benign
11	18311452	C	A	C18311452A	HPS5	NM_181507.2(HPS5):c.220-1G>T	coding	Pathogenic/Likely_pathogenic
11	18311511	A	T	A18311511T	HPS5	NM_181507.2(HPS5):c.220-60T>A	noncoding	Benign
11	18311514	T	A	T18311514A	HPS5	NM_181507.2(HPS5):c.220-63A>T	noncoding	Benign
11	18311889	A	T	A18311889T	HPS5	NM_181507.2(HPS5):c.219+25T>A	noncoding	Benign
11	18394268	C	T	C18394268T	LDHA	Single_allele	noncoding	Benign
11	18394766	A	C	A18394766C	LDHA	NM_005566.4(LDHA):c.-25+130A>C	noncoding	Benign
11	18396036	G	A	G18396036A	LDHA	NM_005566.4(LDHA):c.-24-783G>A	noncoding	Benign
11	18407233	G	A	G18407233A	LDHA	NM_005566.4(LDHA):c.951G>A:p.Lys317=	coding	Benign/Likely_benign
11	19184943	A	G	A19184943G	CSRP3	NM_003476.5(CSRP3):c.508+9T>C	noncoding	Benign/Likely_benign
11	19186303	T	C	T19186303C	CSRP3	NM_003476.5(CSRP3):c.327A>G:p.Lys109=	coding	Benign
11	19186495	G	A	G19186495A	CSRP3	NM_003476.5(CSRP3):c.282-147C>T	noncoding	Benign
11	19202157	C	T	C19202157T	CSRP3	Single_allele	noncoding	Benign
11	19202232	G	A	G19202232A	CSRP3	Single_allele	noncoding	Benign
11	19892613	G	A	G19892613A	NAV2	NM_145117.5(NAV2):c.931+19G>A	noncoding	Benign
11	19933954	A	G	A19933954G	NAV2	NM_145117.5(NAV2):c.1710A>G:p.Lys570=	coding	Benign
11	19948955	T	C	T19948955C	NAV2	NM_145117.5(NAV2):c.2520T>C:p.His840=	coding	Benign
11	19949012	T	C	T19949012C	NAV2	NM_145117.5(NAV2):c.2577T>C:p.Asp859=	coding	Benign
11	19949033	C	T	C19949033T	NAV2	NM_145117.5(NAV2):c.2598C>T:p.Asp866=	coding	Benign
11	20045518	C	T	C20045518T	NAV2	NM_145117.5(NAV2):c.3750C>T:p.Asp1250=	coding	Benign
11	20077995	C	T	C20077995T	NAV2	NM_145117.5(NAV2):c.5070C>T:p.Asp1690=	coding	Benign
11	20083123	G	A	G20083123A	NAV2	NM_145117.5(NAV2):c.5442G>A:p.Pro1814=	coding	Benign
11	20097752	G	T	G20097752T	NAV2	NM_145117.5(NAV2):c.6181+7G>T	noncoding	Benign
11	20600917	A	C	A20600917C	SLC6A5	NM_004211.5(SLC6A5):c.4-212A>C	noncoding	Benign
11	20600983	C	A	C20600983A	SLC6A5	NM_004211.5(SLC6A5):c.4-146C>A	noncoding	Benign
11	20601059	A	G	A20601059G	SLC6A5	NM_004211.5(SLC6A5):c.4-70A>G	noncoding	Benign
11	20601134	C	A	C20601134A	SLC6A5	NM_004211.5(SLC6A5):c.9C>A:p.Cys3Ter	coding	Pathogenic/Likely_pathogenic
11	20601215	C	A	C20601215A	SLC6A5	NM_004211.5(SLC6A5):c.90C>A:p.Cys30Ter	coding	Pathogenic
11	20601227	G	T	G20601227T	SLC6A5	NM_004211.5(SLC6A5):c.102G>T:p.Thr34=	coding	Benign
11	20601688	C	T	C20601688T	SLC6A5	NM_004211.5(SLC6A5):c.540+23C>T	noncoding	Benign
11	20604001	T	C	T20604001C	SLC6A5	NM_004211.5(SLC6A5):c.541-285T>C	noncoding	Benign
11	20604002	G	A	G20604002A	SLC6A5	NM_004211.5(SLC6A5):c.541-284G>A	noncoding	Benign
11	20604425	G	T	G20604425T	SLC6A5	NM_004211.5(SLC6A5):c.679+1G>T	coding	Pathogenic
11	20604560	C	G	C20604560G	SLC6A5	NM_004211.5(SLC6A5):c.679+136C>G	noncoding	Benign
11	20606825	A	G	A20606825G	SLC6A5	NM_004211.5(SLC6A5):c.680-182A>G	noncoding	Benign
11	20606861	C	G	C20606861G	SLC6A5	NM_004211.5(SLC6A5):c.680-146C>G	noncoding	Benign
11	20606933	T	C	T20606933C	SLC6A5	NM_004211.5(SLC6A5):c.680-74T>C	noncoding	Benign
11	20607010	C	A	C20607010A	SLC6A5	NM_004211.5(SLC6A5):c.683C>A:p.Ala228Asp	coding	Pathogenic
11	20607154	C	T	C20607154T	SLC6A5	NM_004211.5(SLC6A5):c.811+16C>T	noncoding	Benign
11	20614740	C	T	C20614740T	SLC6A5	NM_004211.5(SLC6A5):c.1047C>T:p.Thr349=	coding	Benign
11	20614865	C	T	C20614865T	SLC6A5	NM_004211.5(SLC6A5):c.1127+45C>T	noncoding	Benign
11	20617497	A	G	A20617497G	SLC6A5	NM_004211.5(SLC6A5):c.1128-255A>G	noncoding	Benign
11	20617515	C	T	C20617515T	SLC6A5	NM_004211.5(SLC6A5):c.1128-237C>T	noncoding	Benign
11	20617516	G	A	G20617516A	SLC6A5	NM_004211.5(SLC6A5):c.1128-236G>A	noncoding	Benign
11	20617911	A	G	A20617911G	SLC6A5	NM_004211.5(SLC6A5):c.1260+27A>G	noncoding	Benign
11	20617919	A	C	A20617919C	SLC6A5	NM_004211.5(SLC6A5):c.1260+35A>C	noncoding	Benign
11	20617933	G	A	G20617933A	SLC6A5	NM_004211.5(SLC6A5):c.1260+49G>A	noncoding	Benign
11	20618085	G	A	G20618085A	SLC6A5	NM_004211.5(SLC6A5):c.1260+201G>A	noncoding	Benign
11	20618106	A	G	A20618106G	SLC6A5	NM_004211.5(SLC6A5):c.1260+222A>G	noncoding	Benign
11	20626406	C	T	C20626406T	SLC6A5	NM_004211.5(SLC6A5):c.1261-302C>T	noncoding	Benign
11	20626474	G	A	G20626474A	SLC6A5	NM_004211.5(SLC6A5):c.1261-234G>A	noncoding	Benign
11	20626587	C	G	C20626587G	SLC6A5	NM_004211.5(SLC6A5):c.1261-121C>G	noncoding	Benign
11	20626633	C	T	C20626633T	SLC6A5	NM_004211.5(SLC6A5):c.1261-75C>T	noncoding	Benign
11	20626762	C	T	C20626762T	SLC6A5	NM_004211.5(SLC6A5):c.1315C>T:p.Arg439Ter	coding	Pathogenic
11	20626872	C	T	C20626872T	SLC6A5	NM_004211.5(SLC6A5):c.1395+30C>T	noncoding	Benign
11	20627010	C	A	C20627010A	SLC6A5	NM_004211.5(SLC6A5):c.1395+168C>A	noncoding	Benign
11	20627681	C	T	C20627681T	SLC6A5	NM_004211.5(SLC6A5):c.1396-299C>T	noncoding	Benign
11	20627703	C	T	C20627703T	SLC6A5	NM_004211.5(SLC6A5):c.1396-277C>T	noncoding	Benign
11	20627858	G	A	G20627858A	SLC6A5	NM_004211.5(SLC6A5):c.1396-122G>A	noncoding	Benign
11	20627902	G	A	G20627902A	SLC6A5	NM_004211.5(SLC6A5):c.1396-78G>A	noncoding	Benign
11	20628294	G	T	G20628294T	SLC6A5	NM_004211.5(SLC6A5):c.1499+211G>T	noncoding	Benign
11	20628316	C	T	C20628316T	SLC6A5	NM_004211.5(SLC6A5):c.1499+233C>T	noncoding	Benign
11	20630812	C	T	C20630812T	SLC6A5	NM_004211.5(SLC6A5):c.1621C>T:p.Gln541Ter	coding	Pathogenic
11	20631074	C	A	C20631074A	SLC6A5	NM_004211.5(SLC6A5):c.1624+259C>A	noncoding	Benign
11	20636057	C	T	C20636057T	SLC6A5	NM_004211.5(SLC6A5):c.1625-250C>T	noncoding	Benign
11	20637133	C	A	C20637133A	SLC6A5	NM_004211.5(SLC6A5):c.1738-39C>A	noncoding	Benign
11	20638211	G	A	G20638211A	SLC6A5	NM_004211.5(SLC6A5):c.1870-248G>A	noncoding	Benign
11	20638603	C	T	C20638603T	SLC6A5	NM_004211.5(SLC6A5):c.1969+45C>T	noncoding	Benign
11	20638725	C	T	C20638725T	SLC6A5	NM_004211.5(SLC6A5):c.1969+167C>T	noncoding	Benign
11	20646519	G	T	G20646519T	SLC6A5	NM_004211.5(SLC6A5):c.1970-315G>T	noncoding	Benign
11	20646557	C	T	C20646557T	SLC6A5	NM_004211.5(SLC6A5):c.1970-277C>T	noncoding	Benign
11	20651985	T	C	T20651985C	SLC6A5	NM_004211.5(SLC6A5):c.2071-304T>C	noncoding	Benign
11	20652102	A	T	A20652102T	SLC6A5	NM_004211.5(SLC6A5):c.2071-187A>T	noncoding	Benign
11	20652342	C	A	C20652342A	SLC6A5	NM_004211.5(SLC6A5):c.2124C>A:p.Tyr708Ter	coding	Pathogenic
11	20654522	T	C	T20654522C	SLC6A5	NM_004211.5(SLC6A5):c.2239-191T>C	noncoding	Benign
11	22193514	G	T	G22193514T	ANO5	NM_213599.3(ANO5):c.22G>T:p.Glu8Ter	coding	Pathogenic
11	22193532	G	A	G22193532A	ANO5	NM_213599.3(ANO5):c.40G>A:p.Gly14Arg	coding	Pathogenic
11	22220779	T	C	T22220779C	ANO5	NM_213599.3(ANO5):c.181-318T>C	noncoding	Benign
11	22220877	T	C	T22220877C	ANO5	NM_213599.3(ANO5):c.181-220T>C	noncoding	Benign
11	22221158	A	G	A22221158G	ANO5	NM_213599.3(ANO5):c.242A>G:p.Asp81Gly	coding	Pathogenic/Likely_pathogenic
11	22221174	C	A	C22221174A	ANO5	NM_213599.3(ANO5):c.258C>A:p.Tyr86Ter	coding	Pathogenic
11	22221215	G	A	G22221215A	ANO5	NM_213599.3(ANO5):c.294+5G>A	noncoding	Pathogenic
11	22227794	A	G	A22227794G	ANO5	NM_213599.3(ANO5):c.648+208A>G	noncoding	Benign
11	22236252	C	G	C22236252G	ANO5	NM_213599.3(ANO5):c.738C>G:p.Tyr246Ter	coding	Pathogenic
11	22239523	G	T	G22239523T	ANO5	NM_213599.3(ANO5):c.763-46G>T	noncoding	Benign
11	22239572	C	T	C22239572T	ANO5	NM_213599.3(ANO5):c.766C>T:p.Gln256Ter	coding	Pathogenic
11	22239629	C	T	C22239629T	ANO5	NM_213599.3(ANO5):c.823C>T:p.Gln275Ter	coding	Pathogenic
11	22239899	C	A	C22239899A	ANO5	NM_213599.3(ANO5):c.878+215C>A	noncoding	Benign
11	22250105	A	G	A22250105G	ANO5	NM_213599.3(ANO5):c.879-132A>G	noncoding	Benign
11	22250196	A	T	A22250196T	ANO5	NM_213599.3(ANO5):c.879-41A>T	noncoding	Benign
11	22250347	T	A	T22250347A	ANO5	NM_213599.3(ANO5):c.989T>A:p.Leu330Ter	coding	Pathogenic
11	22250772	C	T	C22250772T	ANO5	NM_213599.3(ANO5):c.1045C>T:p.Gln349Ter	coding	Pathogenic
11	22250813	T	A	T22250813A	ANO5	NM_213599.3(ANO5):c.1086T>A:p.Tyr362Ter	coding	Pathogenic
11	22250847	G	T	G22250847T	ANO5	NM_213599.3(ANO5):c.1119+1G>T	coding	Pathogenic
11	22251009	G	A	G22251009A	ANO5	NM_213599.3(ANO5):c.1178G>A:p.Trp393Ter	coding	Pathogenic
11	22255405	A	G	A22255405G	ANO5	NM_213599.3(ANO5):c.1215A>G:p.Gln405=	coding	Benign
11	22257377	C	G	C22257377G	ANO5	NM_213599.3(ANO5):c.1333-303C>G	noncoding	Benign
11	22257416	G	A	G22257416A	ANO5	NM_213599.3(ANO5):c.1333-264G>A	noncoding	Benign
11	22259642	C	T	C22259642T	ANO5	NM_213599.3(ANO5):c.1531C>T:p.Gln511Ter	coding	Pathogenic
11	22259957	A	G	A22259957G	ANO5	NM_213599.3(ANO5):c.1630+216A>G	noncoding	Benign
11	22262002	C	T	C22262002T	ANO5	NM_213599.3(ANO5):c.1631-127C>T	noncoding	Benign
11	22262154	T	G	T22262154G	ANO5	NM_213599.3(ANO5):c.1656T>G:p.Tyr552Ter	coding	Pathogenic
11	22262188	C	T	C22262188T	ANO5	NM_213599.3(ANO5):c.1690C>T:p.Gln564Ter	coding	Pathogenic
11	22262214	C	A	C22262214A	ANO5	NM_213599.3(ANO5):c.1716C>A:p.Cys572Ter	coding	Pathogenic
11	22263072	G	T	G22263072T	ANO5	NM_213599.3(ANO5):c.1898+29G>T	noncoding	Benign/Likely_benign
11	22263225	T	A	T22263225A	ANO5	NM_213599.3(ANO5):c.1898+182T>A	noncoding	Benign
11	22270024	C	T	C22270024T	ANO5	NM_213599.3(ANO5):c.1899-288C>T	noncoding	Benign
11	22270337	C	T	C22270337T	ANO5	NM_213599.3(ANO5):c.1924C>T:p.Arg642Ter	coding	Pathogenic
11	22270461	T	G	T22270461G	ANO5	NM_213599.3(ANO5):c.2029+19T>G	noncoding	Benign/Likely_benign
11	22270589	A	G	A22270589G	ANO5	NM_213599.3(ANO5):c.2029+147A>G	noncoding	Benign
11	22270661	C	T	C22270661T	ANO5	NM_213599.3(ANO5):c.2029+219C>T	noncoding	Benign
11	22270680	A	C	A22270680C	ANO5	NM_213599.3(ANO5):c.2029+238A>C	noncoding	Benign
11	22272870	C	T	C22272870T	ANO5	NM_213599.3(ANO5):c.2116C>T:p.Arg706Ter	coding	Pathogenic
11	22273127	G	A	G22273127A	ANO5	NM_213599.3(ANO5):c.2235+138G>A	noncoding	Benign
11	22274728	C	T	C22274728T	ANO5	NM_213599.3(ANO5):c.2395C>T:p.Arg799Ter	coding	Pathogenic/Likely_pathogenic
11	22276112	T	A	T22276112A	ANO5	NM_213599.3(ANO5):c.2433T>A:p.Tyr811Ter	coding	Pathogenic
11	22276149	C	T	C22276149T	ANO5	NM_213599.3(ANO5):c.2470C>T:p.Gln824Ter	coding	Pathogenic
11	22276177	T	A	T22276177A	ANO5	NM_213599.3(ANO5):c.2498T>A:p.Met833Lys	coding	Pathogenic/Likely_pathogenic
11	22625808	C	T	C22625808T	FANCF	NM_022725.4(FANCF):c.3G>A:p.Met1Ile	coding	Pathogenic
11	22626004	A	G	A22626004G	FANCF	Single_allele	noncoding	Benign
11	26331890	C	G	C26331890G	ANO3	NM_031418.1(ANO3):c.-386C>G	noncoding	Benign
11	26332014	T	C	T26332014C	ANO3	NM_031418.1(ANO3):c.-262C=	noncoding	Benign
11	26332096	T	A	T26332096A	ANO3	NM_031418.1(ANO3):c.-180T>A	noncoding	Benign
11	26332264	C	T	C26332264T	ANO3	NM_031418.4(ANO3):c.-12C>T	coding	Benign
11	26332404	G	T	G26332404T	ANO3	NM_031418.4(ANO3):c.46+83G>T	noncoding	Benign
11	26443953	G	A	G26443953A	ANO3	NM_031418.4(ANO3):c.313+117G>A	noncoding	Benign
11	26462949	G	C	G26462949C	ANO3	NM_031418.4(ANO3):c.314-81G>C	noncoding	Benign
11	26508353	G	C	G26508353C	ANO3	NM_031418.4(ANO3):c.591+91G>C	noncoding	Benign
11	26516520	C	T	C26516520T	ANO3	NM_031418.4(ANO3):c.592-307C>T	noncoding	Benign
11	26516572	G	T	G26516572T	ANO3	NM_031418.4(ANO3):c.592-255G>T	noncoding	Benign
11	26517090	C	T	C26517090T	ANO3	NM_031418.4(ANO3):c.692+163C>T	noncoding	Benign
11	26517201	G	A	G26517201A	ANO3	NM_031418.4(ANO3):c.692+274G>A	noncoding	Benign
11	26517227	G	A	G26517227A	ANO3	NM_031418.4(ANO3):c.692+300G>A	noncoding	Benign
11	26525438	G	A	G26525438A	ANO3	NM_031418.4(ANO3):c.693-197G>A	noncoding	Benign
11	26525440	A	G	A26525440G	ANO3	NM_031418.4(ANO3):c.693-195A>G	noncoding	Benign
11	26525801	G	A	G26525801A	ANO3	NM_031418.4(ANO3):c.737+122G>A	noncoding	Benign
11	26525806	T	G	T26525806G	ANO3	NM_031418.4(ANO3):c.737+127T>G	noncoding	Benign
11	26531132	T	A	T26531132A	ANO3	NM_031418.4(ANO3):c.738-73T>A	noncoding	Benign
11	26531149	T	A	T26531149A	ANO3	NM_031418.4(ANO3):c.738-56T>A	noncoding	Benign
11	26531155	T	C	T26531155C	ANO3	NM_031418.4(ANO3):c.738-50T>C	noncoding	Benign
11	26531510	G	A	G26531510A	ANO3	NM_031418.4(ANO3):c.869+174G>A	noncoding	Benign
11	26534707	A	G	A26534707G	ANO3	NM_031418.4(ANO3):c.976+145A>G	noncoding	Benign
11	26534848	G	A	G26534848A	ANO3	NM_031418.4(ANO3):c.976+286G>A	noncoding	Benign
11	26537294	G	A	G26537294A	ANO3	NM_031418.4(ANO3):c.977-112G>A	noncoding	Benign
11	26537326	T	C	T26537326C	ANO3	NM_031418.4(ANO3):c.977-80T>C	noncoding	Benign
11	26537476	C	T	C26537476T	ANO3	NM_031418.4(ANO3):c.1032+15C>T	noncoding	Benign/Likely_benign
11	26537625	G	A	G26537625A	ANO3	NM_031418.4(ANO3):c.1032+164G>A	noncoding	Benign
11	26541634	T	C	T26541634C	ANO3	NM_031418.4(ANO3):c.1033-313T>C	noncoding	Benign
11	26541635	G	A	G26541635A	ANO3	NM_031418.4(ANO3):c.1033-312G>A	noncoding	Benign
11	26541917	A	T	A26541917T	ANO3	NM_031418.4(ANO3):c.1033-30A>T	noncoding	Benign
11	26542105	T	G	T26542105G	ANO3	NM_031418.4(ANO3):c.1154+37T>G	noncoding	Benign
11	26547419	A	G	A26547419G	ANO3	NM_031418.4(ANO3):c.1158A>G:p.Leu386=	coding	Benign
11	26547492	A	G	A26547492G	ANO3	NM_031418.4(ANO3):c.1231A>G:p.Ile411Val	coding	Benign
11	26547693	G	T	G26547693T	ANO3	NM_031418.4(ANO3):c.1289+143G>T	noncoding	Benign
11	26547855	G	A	G26547855A	ANO3	NM_031418.4(ANO3):c.1289+305G>A	noncoding	Benign
11	26552996	T	G	T26552996G	ANO3	NM_031418.4(ANO3):c.1290-253T>G	noncoding	Benign
11	26553044	T	A	T26553044A	ANO3	NM_031418.4(ANO3):c.1290-205T>A	noncoding	Benign
11	26553083	A	G	A26553083G	ANO3	NM_031418.4(ANO3):c.1290-166A>G	noncoding	Benign
11	26553193	T	C	T26553193C	ANO3	NM_031418.4(ANO3):c.1290-56T>C	noncoding	Benign
11	26553224	G	T	G26553224T	ANO3	NM_031418.4(ANO3):c.1290-25G>T	noncoding	Benign
11	26553230	G	T	G26553230T	ANO3	NM_031418.4(ANO3):c.1290-19G>T	noncoding	Benign
11	26553236	G	T	G26553236T	ANO3	NM_031418.4(ANO3):c.1290-13G>T	noncoding	Benign
11	26553339	T	C	T26553339C	ANO3	NM_031418.4(ANO3):c.1380T>C:p.Tyr460=	coding	Benign
11	26559977	C	T	C26559977T	ANO3	NM_031418.4(ANO3):c.1447+198C>T	coding	Benign
11	26598111	G	A	G26598111A	ANO3	NM_031418.4(ANO3):c.1448-254G>A	noncoding	Benign
11	26598221	G	A	G26598221A	ANO3	NM_031418.4(ANO3):c.1448-144G>A	noncoding	Benign
11	26598325	T	C	T26598325C	ANO3	NM_031418.4(ANO3):c.1448-40T>C	noncoding	Benign
11	26598554	T	C	T26598554C	ANO3	NM_031418.4(ANO3):c.1530+107T>C	noncoding	Benign
11	26599007	T	C	T26599007C	ANO3	NM_031418.4(ANO3):c.1671+9T>C	noncoding	Benign
11	26599417	T	G	T26599417G	ANO3	NM_031418.4(ANO3):c.1672-133T>G	noncoding	Benign
11	26599570	A	C	A26599570C	ANO3	NM_031418.4(ANO3):c.1692A>C:p.Ala564=	coding	Benign
11	26599733	A	G	A26599733G	ANO3	NM_031418.4(ANO3):c.1836+19A>G	noncoding	Benign/Likely_benign
11	26624161	T	C	T26624161C	ANO3	NM_031418.4(ANO3):c.1837-301T>C	noncoding	Benign
11	26624236	A	G	A26624236G	ANO3	NM_031418.4(ANO3):c.1837-226A>G	noncoding	Benign
11	26624264	A	G	A26624264G	ANO3	NM_031418.4(ANO3):c.1837-198A>G	noncoding	Benign
11	26624347	A	T	A26624347T	ANO3	NM_031418.4(ANO3):c.1837-115A>T	noncoding	Benign
11	26634111	G	A	G26634111A	ANO3	NM_031418.4(ANO3):c.1874-93G>A	noncoding	Benign
11	26634183	T	A	T26634183A	ANO3	NM_031418.4(ANO3):c.1874-21T>A	noncoding	Benign
11	26634245	C	T	C26634245T	ANO3	NM_031418.4(ANO3):c.1915C>T:p.Leu639=	coding	Benign/Likely_benign
11	26634823	T	C	T26634823C	ANO3	NM_031418.4(ANO3):c.1986-190T>C	noncoding	Benign
11	26635016	C	T	C26635016T	ANO3	NM_031418.4(ANO3):c.1989C>T:p.Phe663=	coding	Benign
11	26635105	G	A	G26635105A	ANO3	NM_031418.4(ANO3):c.2043+35G>A	noncoding	Benign
11	26635167	C	G	C26635167G	ANO3	NM_031418.4(ANO3):c.2043+97C>G	noncoding	Benign
11	26635201	A	C	A26635201C	ANO3	NM_031418.4(ANO3):c.2043+131A>C	noncoding	Benign
11	26641699	A	T	A26641699T	ANO3	NM_031418.4(ANO3):c.2142-197A>T	noncoding	Benign
11	26641706	A	T	A26641706T	ANO3	NM_031418.4(ANO3):c.2142-190A>T	noncoding	Benign
11	26641707	T	A	T26641707A	ANO3	NM_031418.4(ANO3):c.2142-189T>A	noncoding	Benign
11	26641737	T	C	T26641737C	ANO3	NM_031418.4(ANO3):c.2142-159T>C	noncoding	Benign
11	26641751	T	A	T26641751A	ANO3	NM_031418.4(ANO3):c.2142-145T>A	noncoding	Benign
11	26641757	A	T	A26641757T	ANO3	NM_031418.4(ANO3):c.2142-139A>T	noncoding	Benign
11	26641847	A	G	A26641847G	ANO3	NM_031418.4(ANO3):c.2142-49A>G	noncoding	Benign
11	26642315	T	A	T26642315A	ANO3	NM_031418.4(ANO3):c.2275+286T>A	noncoding	Benign
11	26647548	G	A	G26647548A	ANO3	NM_031418.4(ANO3):c.2429-161G>A	noncoding	Benign
11	26647620	A	C	A26647620C	ANO3	NM_031418.4(ANO3):c.2429-89A>C	noncoding	Benign
11	26647719	T	G	T26647719G	ANO3	NM_031418.4(ANO3):c.2439T>G:p.Leu813=	coding	Benign
11	26648007	A	G	A26648007G	ANO3	NM_031418.4(ANO3):c.2576+151A>G	noncoding	Benign
11	26648049	C	T	C26648049T	ANO3	NM_031418.4(ANO3):c.2576+193C>T	noncoding	Benign
11	26656249	A	T	A26656249T	ANO3	NM_031418.4(ANO3):c.2657+44A>T	noncoding	Benign/Likely_benign
11	26656320	T	C	T26656320C	ANO3	NM_031418.4(ANO3):c.2658-56T>C	noncoding	Benign
11	26656400	C	T	C26656400T	ANO3	NM_031418.4(ANO3):c.2682C>T:p.Pro894=	coding	Benign
11	26660453	T	C	T26660453C	ANO3	NM_031418.4(ANO3):c.*9T>C	noncoding	Benign
11	26660487	G	A	G26660487A	ANO3	NM_031418.4(ANO3):c.*43G>A	noncoding	Benign
11	27368192	T	C	T27368192C	LGR4	NM_018490.5(LGR4):c.2531A>G:p.Asp844Gly	coding	Pathogenic
11	27377180	C	A	C27377180A	LGR4	NM_018490.5(LGR4):c.1087G>T:p.Gly363Cys	coding	Pathogenic
11	27392490	T	C	T27392490C	LGR4	NM_018490.5(LGR4):c.286A>G:p.Ile96Val	coding	Pathogenic
11	27659629	C	G	C27659629G	BDNF	NM_001709.5(BDNF):c.-21-1044G>C	coding	Benign
11	27659650	C	T	C27659650T	BDNF	NM_001709.5(BDNF):c.-21-1065G>A	coding	Benign
11	27659841	C	T	C27659841T	BDNF	NM_001709.5(BDNF):c.-21-1256G>A	noncoding	Benign
11	27673917	A	G	A27673917G	BDNF	NM_001709.5(BDNF):c.-21-15332T>C	noncoding	Benign
11	27674238	A	G	A27674238G	BDNF	NM_001709.5(BDNF):c.-21-15653T>C	coding	Benign
11	27674363	C	A	C27674363A	BDNF	NM_001709.5(BDNF):c.-21-15778G>T	noncoding	Benign
11	30011644	G	A	G30011644A	KCNA4	NM_002233.4(KCNA4):c.1035C>T:p.Gly345=	coding	Benign
11	30231642	T	G	T30231642G	FSHB	NM_001382289.1(FSHB):c.-37-224T>G	noncoding	Benign
11	30231771	A	T	A30231771T	FSHB	NM_001382289.1(FSHB):c.-37-95A>T	noncoding	Benign
11	30232094	T	C	T30232094C	FSHB	NM_001382289.1(FSHB):c.159+33T>C	noncoding	Benign
11	30233752	G	A	G30233752A	FSHB	NM_001382289.1(FSHB):c.342G>A:p.Val114=	coding	Benign
11	31305697	G	C	G31305697C	DCDC1	NM_001387274.1(DCDC1):c.672C>G:p.Leu224=	coding	Benign
11	31305769	C	T	C31305769T	DCDC1	NM_001387274.1(DCDC1):c.600G>A:p.Glu200=	coding	Benign
11	31306219	G	A	G31306219A	DCDC1	NM_001387274.1(DCDC1):c.591+13C>T	noncoding	Benign
11	31307826	C	T	C31307826T	DCDC1	NM_001387274.1(DCDC1):c.247G>A:p.Val83Met	coding	Benign
11	31632409	C	A	C31632409A	ELP4	NM_019040.5(ELP4):c.927+4C>A	noncoding	Benign
11	31789939	G	T	G31789939T	PAX6	NM_001368894.2(PAX6):c.1306C>A:p.Gln436Lys	coding	Benign/Likely_benign
11	31790009	G	A	G31790009A	PAX6	NM_001368894.2(PAX6):c.1236C>T:p.Ser412=	coding	Benign
11	31790667	A	C	A31790667C	PAX6	NM_001368894.2(PAX6):c.1225+43T>G	noncoding	Benign
11	31790845	G	A	G31790845A	PAX6	NM_001368894.2(PAX6):c.1090C>T:p.Gln364Ter	coding	Pathogenic
11	31791135	T	G	T31791135G	PAX6	NM_001368894.2(PAX6):c.1075-275A>C	noncoding	Benign
11	31793534	G	A	G31793534A	PAX6	NM_001368894.2(PAX6):c.978C>T:p.Gly326=	coding	Benign
11	31793560	G	A	G31793560A	PAX6	NM_001368894.2(PAX6):c.959-7C>T	noncoding	Benign
11	31793619	A	T	A31793619T	PAX6	NM_001368894.2(PAX6):c.958+33T>A	noncoding	Benign
11	31793782	C	G	C31793782G	PAX6	NM_001368894.2(PAX6):c.828G>C:p.Arg276Ser	coding	Pathogenic
11	31794348	T	A	T31794348A	PAX6	NM_001368894.2(PAX6):c.725-234A>T	noncoding	Benign
11	31794645	C	A	C31794645A	PAX6	NM_001368894.2(PAX6):c.709G>T:p.Glu237Ter	coding	Pathogenic
11	31794949	C	T	C31794949T	PAX6	NM_001368894.2(PAX6):c.566-161G>A	noncoding	Benign
11	31800821	A	G	A31800821G	PAX6	NM_001368894.2(PAX6):c.435T>C:p.Ala145=	coding	Benign/Likely_benign
11	31800831	C	G	C31800831G	PAX6	NM_001368894.2(PAX6):c.425G>C:p.Arg142Pro	coding	Pathogenic
11	31800846	A	T	A31800846T	PAX6	NM_001368894.2(PAX6):c.410T>A:p.Ile137Lys	coding	Pathogenic
11	31801523	C	T	C31801523T	PAX6	NM_001368894.2(PAX6):c.399+38G>A	coding	Benign
11	31801559	A	G	A31801559G	PAX6	NM_001368894.2(PAX6):c.399+2T>C	coding	Pathogenic
11	31801717	T	C	T31801717C	PAX6	NM_001368894.2(PAX6):c.243A>G:p.Arg81=	coding	Benign
11	31802060	T	A	T31802060A	PAX6	NM_001368894.2(PAX6):c.142-148A>T	noncoding	Benign
11	31802386	G	A	G31802386A	PAX6	NM_001368894.2(PAX6):c.141+318C>T	noncoding	Benign
11	31802473	G	A	G31802473A	PAX6	NM_001368894.2(PAX6):c.141+231C>T	noncoding	Benign
11	31802807	C	G	C31802807G	PAX6	NM_001368894.2(PAX6):c.38G>C:p.Gly13Ala	coding	Pathogenic
11	31802811	C	G	C31802811G	PAX6	NM_001368894.2(PAX6):c.34G>C:p.Gly12Arg	coding	Pathogenic
11	31802875	A	G	A31802875G	PAX6	NM_001368894.2(PAX6):c.11-41T>C	coding	Benign
11	31803029	C	T	C31803029T	PAX6	NM_001368894.2(PAX6):c.11-195G>A	coding	Benign
11	31806097	G	A	G31806097A	PAX6	NM_001368894.2(PAX6):c.10+305C>T	noncoding	Benign
11	31806102	A	G	A31806102G	PAX6	NM_001368894.2(PAX6):c.10+300T>C	noncoding	Benign
11	31806127	G	C	G31806127C	PAX6	NM_001368894.2(PAX6):c.10+275C>G	noncoding	Benign
11	31806726	A	G	A31806726G	PAX6	NM_001368894.2(PAX6):c.-52+123T>C	noncoding	Benign
11	31807129	C	T	C31807129T	PAX6	NM_001368894.2(PAX6):c.-128-204G>A	noncoding	Benign
11	32389093	G	A	G32389093A	WT1	NM_024426.6(WT1):c.1534C>T:p.Gln512Ter	coding	Pathogenic
11	32395980	A	C	A32395980C	WT1	NM_024426.6(WT1):c.1264+277T>G	noncoding	Benign
11	32396281	G	A	G32396281A	WT1	NM_024426.6(WT1):c.1240C>T:p.Gln414Ter	coding	Pathogenic
11	32399727	C	T	C32399727T	WT1	NM_024426.6(WT1):c.1113+221G>A	noncoding	Benign
11	32416295	A	C	A32416295C	WT1	NM_024426.6(WT1):c.1016+195T>G	noncoding	Benign
11	32416326	T	A	T32416326A	WT1	NM_024426.6(WT1):c.1016+164A>T	noncoding	Benign
11	32416356	G	A	G32416356A	WT1	NM_024426.6(WT1):c.1016+134C>T	noncoding	Benign
11	32416368	T	G	T32416368G	WT1	NM_024426.6(WT1):c.1016+122A>C	noncoding	Benign
11	32417455	T	C	T32417455C	WT1	NM_024426.6(WT1):c.965+122A>G	noncoding	Benign
11	32417492	T	C	T32417492C	WT1	NM_024426.6(WT1):c.965+85A>G	noncoding	Benign
11	32417563	A	G	A32417563G	WT1	NM_024426.6(WT1):c.965+14T>C	noncoding	Benign
11	32417642	G	C	G32417642C	WT1	NM_024426.6(WT1):c.900C>G:p.Tyr300Ter	coding	Pathogenic
11	32427728	G	C	G32427728C	WT1	NM_024426.6(WT1):c.887+228C>G	noncoding	Benign
11	32427871	C	G	C32427871G	WT1	NM_024426.6(WT1):c.887+85G>C	noncoding	Benign
11	32427874	C	A	C32427874A	WT1	NM_024426.6(WT1):c.887+82G>T	noncoding	Benign
11	32427942	C	T	C32427942T	WT1	NM_024426.6(WT1):c.887+14G>A	noncoding	Benign
11	32428045	G	C	G32428045C	WT1	NM_024426.6(WT1):c.798C>G:p.Tyr266Ter	coding	Pathogenic
11	32428115	G	A	G32428115A	WT1	NM_024426.6(WT1):c.785-57C>T	noncoding	Benign
11	32428253	G	T	G32428253T	WT1	NM_024426.6(WT1):c.785-195C>A	noncoding	Benign
11	32430374	T	G	T32430374G	WT1	NM_024426.6(WT1):c.662-1755A>C	noncoding	Benign
11	32430375	G	C	G32430375C	WT1	NM_024426.6(WT1):c.662-1756C>G	noncoding	Benign
11	32430404	A	C	A32430404C	WT1	NM_024426.6(WT1):c.662-1785T>G	noncoding	Benign
11	32430792	C	T	C32430792T	WT1	NM_024426.6(WT1):c.662-2173G>A	coding	Benign
11	32430978	G	C	G32430978C	WT1	NM_024426.6(WT1):c.662-2359C>G	noncoding	Benign
11	32435205	C	A	C32435205A	WT1	NM_024426.6(WT1):c.156G>T:p.Glu52Asp	coding	Benign
11	32435238	C	G	C32435238G	WT1	NM_024426.6(WT1):c.123G>C:p.Pro41=	coding	Benign/Likely_benign
11	32438918	G	A	G32438918A	WT1	NR_120546.1(WT1-AS):n.1873G>A	noncoding	Benign
11	33755788	C	T	C33755788T	FBXO3	NM_012175.4(FBXO3):c.661G>A:p.Val221Ile	coding	Benign
11	34086238	G	A	G34086238A	CAPRIN1	NM_005898.5(CAPRIN1):c.1122+19G>A	noncoding	Benign
11	34461363	G	A	G34461363A	CAT	NM_001752.4(CAT):c.1169G>A:p.Gly390Asp	coding	Benign
11	34916054	A	T	A34916054T	PDHX	NM_015957.4(APIP):c.57+174T>A	noncoding	Benign
11	34916827	G	C	G34916827C	PDHX	NM_003477.3(PDHX):c.160+12G>C	noncoding	Benign/Likely_benign
11	34931541	G	T	G34931541T	PDHX	NM_003477.3(PDHX):c.241+57G>T	noncoding	Benign
11	34957345	G	A	G34957345A	PDHX	NM_003477.3(PDHX):c.343-39G>A	noncoding	Benign
11	34960594	G	A	G34960594A	PDHX	NM_003477.3(PDHX):c.641+76G>A	noncoding	Benign
11	34960599	T	G	T34960599G	PDHX	NM_003477.3(PDHX):c.641+81T>G	noncoding	Benign
11	34960601	C	A	C34960601A	PDHX	NM_003477.3(PDHX):c.641+83C>A	noncoding	Benign
11	34966621	A	G	A34966621G	PDHX	NM_003477.3(PDHX):c.642-19A>G	noncoding	Benign/Likely_benign
11	34978198	C	G	C34978198G	PDHX	NM_003477.3(PDHX):c.1023+16C>G	noncoding	Benign
11	34978314	G	A	G34978314A	PDHX	NM_003477.3(PDHX):c.1023+132G>A	noncoding	Benign
11	35265558	G	C	G35265558C	SLC1A2	NM_004171.4(SLC1A2):c.1622C>G:p.Ala541Gly	coding	Benign
11	35280854	C	G	C35280854G	SLC1A2	NM_004171.4(SLC1A2):c.1421+13G>C	noncoding	Benign
11	35280923	T	C	T35280923C	SLC1A2	NM_004171.4(SLC1A2):c.1365A>G:p.Thr455=	coding	Benign
11	35280935	G	A	G35280935A	SLC1A2	NM_004171.4(SLC1A2):c.1353C>T:p.Leu451=	coding	Benign
11	35280971	C	T	C35280971T	SLC1A2	NM_004171.4(SLC1A2):c.1317G>A:p.Ala439=	coding	Benign/Likely_benign
11	35286822	T	C	T35286822C	SLC1A2	NM_004171.4(SLC1A2):c.1221A>G:p.Val407=	coding	Benign
11	35286903	C	A	C35286903A	SLC1A2	NM_004171.4(SLC1A2):c.1140G>T:p.Gly380=	coding	Benign
11	35286930	G	A	G35286930A	SLC1A2	NM_004171.4(SLC1A2):c.1113C>T:p.Thr371=	coding	Benign
11	35286957	A	G	A35286957G	SLC1A2	NM_004171.4(SLC1A2):c.1092-6T>C	noncoding	Benign
11	35292397	G	A	G35292397A	SLC1A2	NM_004171.4(SLC1A2):c.981C>T:p.His327=	coding	Benign
11	35292535	A	C	A35292535C	SLC1A2	NM_004171.4(SLC1A2):c.858-15T>G	noncoding	Benign
11	35301590	C	T	C35301590T	SLC1A2	NM_004171.4(SLC1A2):c.786G>A:p.Gln262=	coding	Benign
11	35301653	A	G	A35301653G	SLC1A2	NM_004171.4(SLC1A2):c.731-8T>C	noncoding	Benign
11	35306201	C	T	C35306201T	SLC1A2	NM_004171.4(SLC1A2):c.603G>A:p.Pro201=	coding	Benign
11	35306220	A	T	A35306220T	SLC1A2	NM_004171.4(SLC1A2):c.584T>A:p.Val195Asp	coding	Benign
11	35306257	G	A	G35306257A	SLC1A2	NM_004171.4(SLC1A2):c.562-15C>T	noncoding	Benign
11	35306278	A	G	A35306278G	SLC1A2	NM_004171.4(SLC1A2):c.562-36T>C	noncoding	Benign
11	35312315	C	T	C35312315T	SLC1A2	NM_004171.4(SLC1A2):c.444G>A:p.Lys148=	coding	Benign
11	35312371	T	C	T35312371C	SLC1A2	NM_004171.4(SLC1A2):c.388A>G:p.Ile130Val	coding	Benign
11	35312485	T	C	T35312485C	SLC1A2	NM_004171.4(SLC1A2):c.311-37A>G	noncoding	Benign
11	35315161	C	T	C35315161T	SLC1A2	NM_004171.4(SLC1A2):c.172G>A:p.Ala58Thr	coding	Benign
11	35315190	A	G	A35315190G	SLC1A2	NM_004171.4(SLC1A2):c.158-15T>C	noncoding	Benign
11	35317346	G	C	G35317346C	SLC1A2	NM_004171.4(SLC1A2):c.157+31C>G	noncoding	Benign
11	35317384	C	T	C35317384T	SLC1A2	NM_004171.4(SLC1A2):c.150G>A:p.Thr50=	coding	Benign
11	35317442	C	T	C35317442T	SLC1A2	NM_004171.4(SLC1A2):c.92G>A:p.Arg31Gln	coding	Benign
11	35317496	T	G	T35317496G	SLC1A2	NM_004171.4(SLC1A2):c.38A>C:p.Gln13Pro	coding	Benign
11	35418950	C	T	C35418950T	SLC1A2	NM_004171.4(SLC1A2):c.17G>A:p.Gly6Asp	coding	Benign
11	35418955	C	T	C35418955T	SLC1A2	NM_004171.4(SLC1A2):c.12G>A:p.Thr4=	coding	Benign
11	35685232	G	C	G35685232C	TRIM44	NM_017583.6(TRIM44):c.670-27G>C	noncoding	Benign
11	35806408	A	G	A35806408G	TRIM44	NM_017583.6(TRIM44):c.*23A>G	noncoding	Benign
11	36437447	A	G	A36437447G	PRR5L	NM_001160167.2(PRR5L):c.415A>G:p.Thr139Ala	coding	Benign
11	36574515	G	A	G36574515A	RAG1	NM_000448.3(RAG1):c.1211G>A:p.Arg404Gln	coding	Pathogenic
11	36574764	T	G	T36574764G	RAG1	NM_000448.3(RAG1):c.1460T>G:p.Met487Arg	coding	Pathogenic
11	36574832	G	T	G36574832T	RAG1	NM_000448.3(RAG1):c.1528G>T:p.Glu510Ter	coding	Pathogenic
11	36574981	G	T	G36574981T	RAG1	NM_000448.3(RAG1):c.1677G>T:p.Arg559Ser	coding	Pathogenic
11	36575175	G	A	G36575175A	RAG1	NM_000448.3(RAG1):c.1871G>A:p.Arg624His	coding	Pathogenic
11	36575825	C	T	C36575825T	RAG1	NM_000448.3(RAG1):c.2521C>T:p.Arg841Trp	coding	Pathogenic
11	36575919	T	G	T36575919G	RAG1	NM_000448.3(RAG1):c.2615T>G:p.Leu872Ter	coding	Pathogenic
11	36576112	C	A	C36576112A	RAG1	NM_000448.3(RAG1):c.2808C>A:p.Thr936=	coding	Benign
11	36576171	T	C	T36576171C	RAG1	NM_000448.3(RAG1):c.2867T>C:p.Ile956Thr	coding	Pathogenic
11	36592812	A	T	A36592812T	RAG2	NM_000536.4(RAG2):c.1357T>A:p.Trp453Arg	coding	Pathogenic/Likely_pathogenic
11	36593694	G	A	G36593694A	RAG2	NM_000536.4(RAG2):c.475C>T:p.Arg159Cys	coding	Pathogenic
11	36593727	G	A	G36593727A	RAG2	NM_000536.4(RAG2):c.442C>T:p.Arg148Ter	coding	Pathogenic
11	36593952	G	A	G36593952A	RAG2	NM_000536.4(RAG2):c.217C>T:p.Arg73Cys	coding	Pathogenic/Likely_pathogenic
11	36594039	C	A	C36594039A	RAG2	NM_000536.4(RAG2):c.130G>T:p.Gly44Ter	coding	Pathogenic
11	36594046	G	C	G36594046C	RAG2	NM_000536.4(RAG2):c.123C>G:p.Cys41Trp	coding	Pathogenic/Likely_pathogenic
11	36594508	G	C	G36594508C	RAG2	NM_000536.4(RAG2):c.-27-313C>G	noncoding	Benign
11	36595228	C	T	C36595228T	RAG2	NM_000536.4(RAG2):c.-27-1033G>A	noncoding	Benign
11	44095874	G	A	G44095874A	EXT2	NM_207122.2(EXT2):c.-31+22G>A	noncoding	Benign
11	44095894	A	G	A44095894G	EXT2	NM_207122.2(EXT2):c.-31+42A>G	noncoding	Benign
11	44107862	C	T	C44107862T	EXT2	NM_207122.2(EXT2):c.150C>T:p.Ile50=	coding	Benign
11	44107994	T	A	T44107994A	EXT2	NM_207122.2(EXT2):c.282T>A:p.Tyr94Ter	coding	Pathogenic
11	44108196	C	T	C44108196T	EXT2	NM_207122.2(EXT2):c.484C>T:p.Gln162Ter	coding	Pathogenic
11	44108380	G	C	G44108380C	EXT2	NM_207122.2(EXT2):c.536+132G>C	noncoding	Benign
11	44109115	A	C	A44109115C	EXT2	NM_207122.2(EXT2):c.537-79A>C	noncoding	Benign
11	44109197	G	A	G44109197A	EXT2	NM_207122.2(EXT2):c.540G>A:p.Trp180Ter	coding	Pathogenic
11	44113998	T	A	T44113998A	EXT2	NM_207122.2(EXT2):c.627-187T>A	noncoding	Benign
11	44114444	C	T	C44114444T	EXT2	NM_207122.2(EXT2):c.743+143C>T	noncoding	Benign
11	44124707	A	G	A44124707G	EXT2	NM_207122.2(EXT2):c.744-82A>G	noncoding	Benign
11	44124707	A	T	A44124707T	EXT2	NM_207122.2(EXT2):c.744-82A>T	noncoding	Benign
11	44124840	C	G	C44124840G	EXT2	NM_207122.2(EXT2):c.795C>G:p.Tyr265Ter	coding	Pathogenic
11	44124916	G	T	G44124916T	EXT2	NM_207122.2(EXT2):c.871G>T:p.Glu291Ter	coding	Pathogenic
11	44125014	G	A	G44125014A	EXT2	NM_207122.2(EXT2):c.939+30G>A	noncoding	Benign
11	44126798	C	G	C44126798G	EXT2	NM_207122.2(EXT2):c.940-18C>G	noncoding	Benign
11	44126872	C	T	C44126872T	EXT2	NM_207122.2(EXT2):c.996C>T:p.Ser332=	coding	Benign
11	44126899	G	A	G44126899A	EXT2	NM_207122.2(EXT2):c.1023G>A:p.Pro341=	coding	Benign/Likely_benign
11	44129907	T	C	T44129907C	EXT2	NM_207122.2(EXT2):c.1080-138T>C	noncoding	Benign
11	44129930	G	T	G44129930T	EXT2	NM_207122.2(EXT2):c.1080-115G>T	noncoding	Benign
11	44130029	T	G	T44130029G	EXT2	NM_207122.2(EXT2):c.1080-16T>G	noncoding	Benign
11	44130043	A	G	A44130043G	EXT2	NM_207122.2(EXT2):c.1080-2A>G	noncoding	Pathogenic
11	44130044	G	A	G44130044A	EXT2	NM_207122.2(EXT2):c.1080-1G>A	noncoding	Pathogenic
11	44130044	G	T	G44130044T	EXT2	NM_207122.2(EXT2):c.1080-1G>T	noncoding	Pathogenic
11	44171341	C	A	C44171341A	EXT2	NM_207122.2(EXT2):c.1174-270C>A	noncoding	Benign
11	44171671	C	T	C44171671T	EXT2	NM_207122.2(EXT2):c.1234C>T:p.Gln412Ter	coding	Pathogenic
11	44171723	G	A	G44171723A	EXT2	NM_207122.2(EXT2):c.1286G>A:p.Trp429Ter	coding	Pathogenic
11	44171724	G	A	G44171724A	EXT2	NM_207122.2(EXT2):c.1287G>A:p.Trp429Ter	coding	Pathogenic
11	44171868	T	C	T44171868C	EXT2	NM_207122.2(EXT2):c.1305+126T>C	noncoding	Benign
11	44197736	C	T	C44197736T	EXT2	NM_207122.2(EXT2):c.1306-93C>T	noncoding	Benign
11	44197948	A	G	A44197948G	EXT2	NM_207122.2(EXT2):c.1425A>G:p.Glu475=	coding	Benign
11	44206598	C	T	C44206598T	EXT2	NM_207122.2(EXT2):c.1496-195C>T	noncoding	Benign
11	44206684	G	A	G44206684A	EXT2	NM_207122.2(EXT2):c.1496-109G>A	noncoding	Benign
11	44206851	G	A	G44206851A	EXT2	NM_207122.2(EXT2):c.1554G>A:p.Lys518=	coding	Benign
11	44232337	A	G	A44232337G	EXT2	NM_207122.2(EXT2):c.1663-16A>G	noncoding	Benign
11	44232371	G	C	G44232371C	EXT2	NM_207122.2(EXT2):c.1681G>C:p.Asp561His	coding	Benign
11	44232506	C	T	C44232506T	EXT2	NM_207122.2(EXT2):c.1806+10C>T	noncoding	Benign
11	44232507	G	A	G44232507A	EXT2	NM_207122.2(EXT2):c.1806+11G>A	noncoding	Benign/Likely_benign
11	44234064	T	C	T44234064C	EXT2	NM_207122.2(EXT2):c.1807-51T>C	noncoding	Benign
11	44234132	T	A	T44234132A	EXT2	NM_207122.2(EXT2):c.1824T>A:p.Tyr608Ter	coding	Pathogenic
11	44236227	G	C	G44236227C	EXT2	NM_207122.2(EXT2):c.1936-66G>C	noncoding	Benign
11	44265255	C	T	C44265255T	ALX4	NM_021926.4(ALX4):c.907-72G>A	noncoding	Benign
11	44265369	G	A	G44265369A	ALX4	NM_021926.4(ALX4):c.907-186C>T	noncoding	Benign
11	44265478	T	C	T44265478C	ALX4	NM_021926.4(ALX4):c.907-295A>G	noncoding	Benign
11	44267739	A	G	A44267739G	ALX4	NM_021926.4(ALX4):c.778-117T>C	noncoding	Benign
11	44267762	C	G	C44267762G	ALX4	NM_021926.4(ALX4):c.778-140G>C	noncoding	Benign
11	44267885	G	C	G44267885C	ALX4	NM_021926.4(ALX4):c.778-263C>G	noncoding	Benign
11	44275278	C	T	C44275278T	ALX4	NM_021926.4(ALX4):c.777+70G>A	noncoding	Benign
11	44275703	A	G	A44275703G	ALX4	NM_021926.4(ALX4):c.467-45T>C	noncoding	Benign
11	44275793	C	A	C44275793A	ALX4	NM_021926.4(ALX4):c.467-135G>T	noncoding	Benign
11	44275917	G	A	G44275917A	ALX4	NM_021926.4(ALX4):c.467-259C>T	noncoding	Benign
11	44275928	G	A	G44275928A	ALX4	NM_021926.4(ALX4):c.467-270C>T	noncoding	Benign
11	45804395	G	A	G45804395A	SLC35C1	NM_001145265.1(SLC35C1):c.-154G>A	noncoding	Benign
11	45805010	A	G	A45805010G	SLC35C1	NM_001145265.2(SLC35C1):c.-32+493A>G	noncoding	Benign
11	45806474	G	A	G45806474A	SLC35C1	NM_018389.5(SLC35C1):c.535+138G>A	noncoding	Benign
11	45810481	T	C	T45810481C	SLC35C1	NM_018389.5(SLC35C1):c.536-295T>C	noncoding	Benign
11	45811131	T	A	T45811131A	SLC35C1	NM_018389.5(SLC35C1):c.891T>A:p.Asn297Lys	coding	Pathogenic
11	45910695	G	A	G45910695A	PEX16	NM_004813.4(PEX16):c.952+203C>T	noncoding	Benign
11	45910880	G	A	G45910880A	PEX16	NM_004813.4(PEX16):c.952+18C>T	noncoding	Benign/Likely_benign
11	45911211	C	T	C45911211T	PEX16	NM_004813.4(PEX16):c.888-249G>A	noncoding	Benign
11	45911249	T	A	T45911249A	PEX16	NM_004813.4(PEX16):c.888-287A>T	noncoding	Benign
11	45913702	C	T	C45913702T	PEX16	NM_004813.4(PEX16):c.887+117G>A	noncoding	Benign
11	45913976	T	C	T45913976C	PEX16	NM_004813.4(PEX16):c.768-38A>G	noncoding	Benign
11	45914161	C	T	C45914161T	PEX16	NM_004813.4(PEX16):c.737G>A:p.Trp246Ter	coding	Pathogenic
11	45914180	G	A	G45914180A	PEX16	NM_004813.4(PEX16):c.718C>T:p.Gln240Ter	coding	Pathogenic
11	45915266	G	C	G45915266C	PEX16	NM_004813.4(PEX16):c.460+202C>G	noncoding	Benign
11	45915477	G	A	G45915477A	PEX16	NM_004813.4(PEX16):c.451C>T:p.Gln151Ter	coding	Pathogenic
11	45916290	A	G	A45916290G	PEX16	NM_004813.4(PEX16):c.162T>C:p.Ser54=	coding	Benign
11	45917321	T	A	T45917321A	PEX16	NM_004813.4(PEX16):c.148+137A>T	noncoding	Benign
11	45917491	G	A	G45917491A	PEX16	NM_004813.4(PEX16):c.115C>T:p.Arg39Ter	coding	Pathogenic
11	45918090	C	T	C45918090T	PEX16	NM_004813.2(PEX16):c.-279G>A	noncoding	Benign/Likely_benign
11	45918297	A	C	A45918297C	PEX16	Single_allele	noncoding	Benign
11	45918383	C	G	C45918383G	PEX16	Single_allele	noncoding	Benign
11	45918468	A	G	A45918468G	PEX16	Single_allele	noncoding	Benign
11	45934077	T	C	T45934077C	PHF21A	NM_001352027.3(PHF21A):c.1937A>G:p.Asn646Ser	coding	Benign
11	45934129	T	C	T45934129C	PHF21A	NM_001352027.3(PHF21A):c.1885A>G:p.Ile629Val	coding	Benign
11	45938118	C	T	C45938118T	PHF21A	NM_001352027.3(PHF21A):c.1608+39G>A	noncoding	Benign
11	45949455	T	A	T45949455A	PHF21A	NM_001352027.3(PHF21A):c.1174A>T:p.Lys392Ter	coding	Pathogenic
11	45953579	C	T	C45953579T	PHF21A	NM_001352027.3(PHF21A):c.1043G>A:p.Arg348His	coding	Benign
11	45953645	T	C	T45953645C	PHF21A	NM_001352027.3(PHF21A):c.997-20A>G	noncoding	Benign
11	45965429	G	A	G45965429A	PHF21A	NM_001352027.3(PHF21A):c.882C>T:p.Thr294=	coding	Benign
11	46079145	G	A	G46079145A	PHF21A	NM_001352027.3(PHF21A):c.76C>T:p.Gln26Ter	coding	Pathogenic
11	46084137	G	A	G46084137A	PHF21A	NM_001352027.3(PHF21A):c.54+29C>T	noncoding	Benign
11	46277758	C	G	C46277758G	CREB3L1	NM_052854.4(CREB3L1):c.-354C>G	noncoding	Benign
11	46296481	C	G	C46296481G	CREB3L1	NM_052854.4(CREB3L1):c.103-3454C>G	noncoding	Benign
11	46299684	C	G	C46299684G	CREB3L1	NM_052854.4(CREB3L1):c.103-251C>G	noncoding	Benign
11	46300276	A	C	A46300276C	CREB3L1	NM_052854.4(CREB3L1):c.331+113A>C	noncoding	Benign
11	46307919	G	A	G46307919A	CREB3L1	NM_052854.4(CREB3L1):c.435G>A:p.Ser145=	coding	Benign/Likely_benign
11	46307938	G	A	G46307938A	CREB3L1	NM_052854.4(CREB3L1):c.454G>A:p.Ala152Thr	coding	Benign/Likely_benign
11	46308197	G	A	G46308197A	CREB3L1	NM_052854.4(CREB3L1):c.516+197G>A	noncoding	Benign
11	46308284	A	G	A46308284G	CREB3L1	NM_052854.4(CREB3L1):c.516+284A>G	noncoding	Benign
11	46309811	G	T	G46309811T	CREB3L1	NM_052854.4(CREB3L1):c.517-178G>T	noncoding	Benign
11	46310330	C	T	C46310330T	CREB3L1	NM_052854.4(CREB3L1):c.595+263C>T	noncoding	Benign
11	46310807	C	G	C46310807G	CREB3L1	NM_052854.4(CREB3L1):c.596-225C>G	noncoding	Benign
11	46310953	T	C	T46310953C	CREB3L1	NM_052854.4(CREB3L1):c.596-79T>C	noncoding	Benign
11	46311152	C	T	C46311152T	CREB3L1	NM_052854.4(CREB3L1):c.716C>T:p.Thr239Met	coding	Benign
11	46311342	T	G	T46311342G	CREB3L1	NM_052854.4(CREB3L1):c.753+153T>G	noncoding	Benign
11	46312106	G	A	G46312106A	CREB3L1	NM_052854.4(CREB3L1):c.754-219G>A	noncoding	Benign
11	46312333	G	A	G46312333A	CREB3L1	NM_052854.4(CREB3L1):c.762G>A:p.Gln254=	coding	Benign
11	46312688	G	A	G46312688A	CREB3L1	NM_052854.4(CREB3L1):c.962+18G>A	noncoding	Benign
11	46316053	T	C	T46316053C	CREB3L1	NM_052854.4(CREB3L1):c.1032-233T>C	noncoding	Benign
11	46316501	G	T	G46316501T	CREB3L1	NM_052854.4(CREB3L1):c.1131+116G>T	noncoding	Benign
11	46317341	C	T	C46317341T	CREB3L1	NM_052854.4(CREB3L1):c.1132-20C>T	noncoding	Benign
11	46317415	G	T	G46317415T	CREB3L1	NM_052854.4(CREB3L1):c.1186G>T:p.Glu396Ter	coding	Pathogenic
11	46317426	C	T	C46317426T	CREB3L1	NM_052854.4(CREB3L1):c.1197C>T:p.Ser399=	coding	Benign
11	46317459	C	T	C46317459T	CREB3L1	NM_052854.4(CREB3L1):c.1230C>T:p.Ala410=	coding	Benign/Likely_benign
11	46317460	G	A	G46317460A	CREB3L1	NM_052854.4(CREB3L1):c.1231G>A:p.Ala411Thr	coding	Benign
11	46317633	C	T	C46317633T	CREB3L1	NM_052854.4(CREB3L1):c.1258+146C>T	noncoding	Benign
11	46320338	A	G	A46320338G	CREB3L1	NM_052854.4(CREB3L1):c.1333A>G:p.Met445Val	coding	Benign/Likely_benign
11	46320659	G	A	G46320659A	CREB3L1	NM_052854.4(CREB3L1):c.1524-51G>A	noncoding	Benign
11	46320706	C	T	C46320706T	CREB3L1	NM_052854.4(CREB3L1):c.1524-4C>T	noncoding	Benign
11	46366302	C	G	C46366302G	DGKZ	NM_001199267.2(DGKZ):c.162-989C>G	coding	Benign
11	46366318	A	G	A46366318G	DGKZ	NM_001199267.2(DGKZ):c.162-973A>G	coding	Benign
11	46366370	C	T	C46366370T	DGKZ	NM_001199267.2(DGKZ):c.162-921C>T	coding	Benign
11	46366461	G	T	G46366461T	DGKZ	NM_001199267.2(DGKZ):c.162-830G>T	coding	Benign
11	46366474	G	A	G46366474A	DGKZ	NM_001199267.2(DGKZ):c.162-817G>A	coding	Benign
11	46366550	C	G	C46366550G	DGKZ	NM_001199267.2(DGKZ):c.162-741C>G	coding	Benign
11	46366649	G	A	G46366649A	DGKZ	NM_001199267.2(DGKZ):c.162-642G>A	coding	Benign
11	46366687	C	T	C46366687T	DGKZ	NM_001199267.2(DGKZ):c.162-604C>T	coding	Benign
11	46366974	G	A	G46366974A	DGKZ	NM_001199267.2(DGKZ):c.162-317G>A	coding	Benign
11	46367342	C	T	C46367342T	DGKZ	NM_001199267.2(DGKZ):c.213C>T:p.Thr71=	coding	Benign
11	46367767	C	T	C46367767T	DGKZ	NM_001199267.2(DGKZ):c.366+20C>T	noncoding	Benign
11	46369482	C	T	C46369482T	DGKZ	NM_001199267.2(DGKZ):c.442-12C>T	noncoding	Benign
11	46371789	T	C	T46371789C	DGKZ	NM_001199267.2(DGKZ):c.828+14T>C	noncoding	Benign
11	46372179	G	T	G46372179T	DGKZ	NM_001199267.2(DGKZ):c.924+9G>T	noncoding	Benign
11	46372408	T	C	T46372408C	DGKZ	NM_001199267.2(DGKZ):c.925-20T>C	noncoding	Benign
11	46374929	T	C	T46374929C	DGKZ	NM_001199267.2(DGKZ):c.1596-5T>C	noncoding	Benign
11	46375416	C	A	C46375416A	DGKZ	NM_001199267.2(DGKZ):c.1708-16C>A	noncoding	Benign
11	46375651	G	A	G46375651A	DGKZ	NM_001199267.2(DGKZ):c.1907+20G>A	noncoding	Benign
11	46377058	G	T	G46377058T	DGKZ	NM_001199267.2(DGKZ):c.2200-15G>T	noncoding	Benign
11	46377099	C	T	C46377099T	DGKZ	NM_001199267.2(DGKZ):c.2226C>T:p.Ile742=	coding	Benign
11	46377230	G	A	G46377230A	DGKZ	NM_001199267.2(DGKZ):c.2339+18G>A	noncoding	Benign
11	46700671	T	C	T46700671C	ZNF408	Single_allele	noncoding	Benign
11	46700926	C	T	C46700926T	ZNF408	Single_allele	noncoding	Benign
11	46700939	G	A	G46700939A	ZNF408	Single_allele	noncoding	Benign
11	46701135	G	C	G46701135C	ZNF408	NM_024741.3(ZNF408):c.52+36G>C	coding	Benign/Likely_benign
11	46701181	T	C	T46701181C	ZNF408	NM_024741.3(ZNF408):c.52+82T>C	noncoding	Benign
11	46702518	G	C	G46702518C	ZNF408	NM_024741.3(ZNF408):c.331-186G>C	noncoding	Benign
11	46704335	C	T	C46704335T	ZNF408	NM_024741.3(ZNF408):c.653-18C>T	noncoding	Benign
11	46705321	C	T	C46705321T	ZNF408	NM_024741.3(ZNF408):c.1621C>T:p.Arg541Cys	coding	Pathogenic/Likely_pathogenic
11	46705590	G	A	G46705590A	ZNF408	NM_024741.3(ZNF408):c.1890G>A:p.Arg630=	coding	Benign
11	46719945	C	T	C46719945T	F2	NM_000506.5(F2):c.240+83C>T	noncoding	Benign
11	46720358	C	A	C46720358A	F2	NM_000506.5(F2):c.241-165C>A	noncoding	Benign
11	46720699	T	C	T46720699C	F2	NM_000506.5(F2):c.266-91T>C	noncoding	Benign
11	46720876	G	A	G46720876A	F2	NM_000506.5(F2):c.316+36G>A	noncoding	Benign
11	46720939	A	G	A46720939G	F2	NM_000506.5(F2):c.316+99A>G	noncoding	Benign
11	46722920	G	A	G46722920A	F2	NM_000506.5(F2):c.317-260G>A	noncoding	Benign
11	46722978	T	C	T46722978C	F2	NM_000506.5(F2):c.317-202T>C	noncoding	Benign
11	46726429	T	C	T46726429C	F2	NM_000506.5(F2):c.875-69T>C	noncoding	Benign
11	46728514	C	G	C46728514G	F2	NM_000506.5(F2):c.1299-150C>G	noncoding	Benign
11	46729269	T	C	T46729269C	F2	NM_000506.5(F2):c.1473-111T>C	noncoding	Benign
11	46729851	T	C	T46729851C	F2	NM_000506.5(F2):c.1654+290T>C	noncoding	Benign
11	46738916	G	T	G46738916T	F2	NM_000506.5(F2):c.1655-132G>T	noncoding	Benign
11	46739206	G	A	G46739206A	F2	NM_000506.5(F2):c.1726-59G>A	noncoding	Benign
11	46858722	G	T	G46858722T	LRP4	NM_002334.4(LRP4):c.*261C>A	noncoding	Benign/Likely_benign
11	46862896	C	T	C46862896T	LRP4	NM_002334.4(LRP4):c.5244-149G>A	noncoding	Benign
11	46864324	G	A	G46864324A	LRP4	NM_002334.4(LRP4):c.5243+124C>T	noncoding	Benign
11	46868107	G	C	G46868107C	LRP4	NM_002334.4(LRP4):c.4959C>G:p.Gly1653=	coding	Pathogenic
11	46868162	T	C	T46868162C	LRP4	NM_002334.4(LRP4):c.4952-48A>G	noncoding	Benign
11	46868168	T	C	T46868168C	LRP4	NM_002334.4(LRP4):c.4952-54A>G	noncoding	Benign
11	46868587	C	G	C46868587G	LRP4	NM_002334.4(LRP4):c.4951+13G>C	noncoding	Benign
11	46868590	T	C	T46868590C	LRP4	NM_002334.4(LRP4):c.4951+10A>G	noncoding	Benign
11	46868837	C	G	C46868837G	LRP4	NM_002334.4(LRP4):c.4838-124G>C	noncoding	Benign
11	46871947	C	A	C46871947A	LRP4	NM_002334.4(LRP4):c.4584-314G>T	noncoding	Benign
11	46873755	T	C	T46873755C	LRP4	NM_002334.4(LRP4):c.4230-162A>G	coding	Benign
11	46873827	G	A	G46873827A	LRP4	NM_002334.4(LRP4):c.4230-234C>T	coding	Benign
11	46874575	G	T	G46874575T	LRP4	NM_002334.4(LRP4):c.4229+225C>A	noncoding	Benign
11	46875236	A	T	A46875236T	LRP4	NM_002334.4(LRP4):c.3926-133T>A	noncoding	Benign
11	46875357	G	C	G46875357C	LRP4	NM_002334.4(LRP4):c.3925+99C>G	noncoding	Benign
11	46875702	G	C	G46875702C	LRP4	NM_002334.4(LRP4):c.3700-21C>G	noncoding	Benign
11	46876236	T	C	T46876236C	LRP4	NM_002334.4(LRP4):c.3536+230A>G	noncoding	Benign
11	46876241	C	G	C46876241G	LRP4	NM_002334.4(LRP4):c.3536+225G>C	noncoding	Benign
11	46876314	C	T	C46876314T	LRP4	NM_002334.4(LRP4):c.3536+152G>A	noncoding	Benign
11	46876319	G	A	G46876319A	LRP4	NM_002334.4(LRP4):c.3536+147C>T	noncoding	Benign
11	46876444	G	T	G46876444T	LRP4	NM_002334.4(LRP4):c.3536+22C>A	noncoding	Benign
11	46877044	G	A	G46877044A	LRP4	NM_002334.4(LRP4):c.3277+155C>T	noncoding	Benign
11	46877570	C	T	C46877570T	LRP4	NM_002334.4(LRP4):c.3137-231G>A	noncoding	Benign
11	46878729	A	G	A46878729G	LRP4	NM_002334.4(LRP4):c.3136+178T>C	noncoding	Benign
11	46879108	G	T	G46879108T	LRP4	NM_002334.4(LRP4):c.3004+18C>A	noncoding	Benign
11	46879300	G	A	G46879300A	LRP4	NM_002334.4(LRP4):c.2830C>T:p.Gln944Ter	coding	Pathogenic
11	46879605	A	T	A46879605T	LRP4	NM_002334.4(LRP4):c.2815-290T>A	noncoding	Benign
11	46883767	A	T	A46883767T	LRP4	NM_002334.4(LRP4):c.2612+104T>A	noncoding	Benign
11	46884180	G	A	G46884180A	LRP4	NM_002334.4(LRP4):c.2507-204C>T	noncoding	Benign
11	46884287	A	G	A46884287G	LRP4	NM_002334.4(LRP4):c.2507-311T>C	noncoding	Benign
11	46886073	C	T	C46886073T	LRP4	NM_002334.4(LRP4):c.2506+18G>A	noncoding	Benign
11	46886074	G	A	G46886074A	LRP4	NM_002334.4(LRP4):c.2506+17C>T	noncoding	Benign
11	46886276	C	T	C46886276T	LRP4	NM_002334.4(LRP4):c.2424+49G>A	noncoding	Benign
11	46886489	G	A	G46886489A	LRP4	NM_002334.4(LRP4):c.2260C>T:p.Arg754Ter	coding	Pathogenic
11	46886699	C	T	C46886699T	LRP4	NM_002334.4(LRP4):c.2216-166G>A	noncoding	Benign
11	46889093	C	G	C46889093G	LRP4	NM_002334.4(LRP4):c.2215+318G>C	noncoding	Benign
11	46889906	T	C	T46889906C	LRP4	NM_002334.4(LRP4):c.2092+38A>G	noncoding	Benign
11	46889927	G	A	G46889927A	LRP4	NM_002334.4(LRP4):c.2092+17C>T	noncoding	Benign
11	46890153	C	T	C46890153T	LRP4	NM_002334.4(LRP4):c.1916-33G>A	noncoding	Benign
11	46890230	G	C	G46890230C	LRP4	NM_002334.4(LRP4):c.1915+47C>G	noncoding	Benign
11	46893366	C	G	C46893366G	LRP4	NM_002334.4(LRP4):c.1541-237G>C	noncoding	Benign
11	46894442	T	C	T46894442C	LRP4	NM_002334.4(LRP4):c.1540+147A>G	noncoding	Benign
11	46895142	C	T	C46895142T	LRP4	NM_002334.4(LRP4):c.1309+24G>A	noncoding	Benign
11	46895444	G	A	G46895444A	LRP4	NM_002334.4(LRP4):c.1184-153C>T	noncoding	Benign
11	46895491	G	C	G46895491C	LRP4	NM_002334.4(LRP4):c.1184-200C>G	noncoding	Benign
11	46896432	G	A	G46896432A	LRP4	NM_002334.4(LRP4):c.923-97C>T	noncoding	Benign
11	46897026	G	A	G46897026A	LRP4	NM_002334.4(LRP4):c.797-32C>T	noncoding	Benign
11	46898691	A	G	A46898691G	LRP4	NM_002334.4(LRP4):c.677-14T>C	noncoding	Benign
11	46899848	G	A	G46899848A	LRP4	NM_002334.4(LRP4):c.430+15C>T	noncoding	Benign
11	46900090	G	A	G46900090A	LRP4	NM_002334.4(LRP4):c.317-114C>T	noncoding	Benign
11	46902544	G	A	G46902544A	LRP4	NM_002334.4(LRP4):c.199+239C>T	noncoding	Benign
11	46902623	T	A	T46902623A	LRP4	NM_002334.4(LRP4):c.199+160A>T	noncoding	Benign
11	46903114	C	G	C46903114G	LRP4	NM_002334.4(LRP4):c.53-185G>C	noncoding	Benign
11	46903241	C	T	C46903241T	LRP4	NM_002334.4(LRP4):c.53-312G>A	noncoding	Benign
11	46918196	C	A	C46918196A	LRP4	NM_002334.4(LRP4):c.52+132G>T	noncoding	Benign
11	46918742	C	T	C46918742T	LRP4	Single_allele	noncoding	Benign
11	47214743	A	G	A47214743G	DDB2	Single_allele	noncoding	Benign
11	47214747	A	G	A47214747G	DDB2	Single_allele	noncoding	Benign
11	47214854	C	G	C47214854G	DDB2	Single_allele	noncoding	Benign
11	47216129	T	C	T47216129C	DDB2	NM_000107.3(DDB2):c.128-207T>C	noncoding	Benign
11	47232931	C	T	C47232931T	DDB2	NM_000107.3(DDB2):c.574C>T:p.Arg192Ter	coding	Pathogenic
11	47233051	G	A	G47233051A	DDB2	NM_000107.3(DDB2):c.602+92G>A	noncoding	Benign
11	47233148	C	T	C47233148T	DDB2	NM_000107.3(DDB2):c.602+189C>T	noncoding	Benign
11	47234352	A	G	A47234352G	DDB2	NM_000107.3(DDB2):c.603-221A>G	noncoding	Benign
11	47235157	C	T	C47235157T	DDB2	NM_000107.3(DDB2):c.881-113C>T	noncoding	Benign
11	47238000	C	A	C47238000A	DDB2	NM_000107.3(DDB2):c.1187C>A:p.Ser396Ter	coding	Pathogenic
11	47238117	T	C	T47238117C	DDB2	NM_000107.3(DDB2):c.1189-21T>C	noncoding	Benign
11	47238442	G	A	G47238442A	DDB2	NM_000107.3(DDB2):c.1234+259G>A	noncoding	Benign
11	47238591	G	C	G47238591C	DDB2	NM_000107.3(DDB2):c.1235-209G>C	noncoding	Benign
11	47238721	T	C	T47238721C	DDB2	NM_000107.3(DDB2):c.1235-79T>C	noncoding	Benign
11	47238768	A	G	A47238768G	DDB2	NM_000107.3(DDB2):c.1235-32A>G	noncoding	Benign
11	47275949	C	G	C47275949G	MADD	NM_003682.4(MADD):c.710C>G:p.Ser237Ter	coding	Pathogenic
11	47276747	C	T	C47276747T	MADD	NM_003682.4(MADD):c.979C>T:p.Arg327Ter	coding	Pathogenic/Likely_pathogenic
11	47276809	G	A	G47276809A	MADD	NM_003682.4(MADD):c.1041G>A:p.Glu347=	coding	Benign
11	47281724	T	C	T47281724C	MADD	NM_003682.4(MADD):c.1440T>C:p.Asn480=	coding	Benign
11	47285034	G	A	G47285034A	MADD	NM_003682.4(MADD):c.2251G>A:p.Val751Met	coding	Benign
11	47285077	G	A	G47285077A	MADD	NM_003682.4(MADD):c.2294G>A:p.Arg765Gln	coding	Benign
11	47289494	G	A	G47289494A	MADD	NM_003682.4(MADD):c.2816+1G>A	coding	Pathogenic
11	47290823	A	G	A47290823G	MADD	NM_003682.4(MADD):c.3361+7A>G	noncoding	Benign
11	47309563	T	A	T47309563A	MADD	NM_001376571.1(MADD):c.4109T>A:p.Leu1370Ter	coding	Pathogenic
11	47331311	G	A	G47331311A	MYBPC3	Single_allele	noncoding	Benign
11	47331331	A	T	A47331331T	MYBPC3	Single_allele	noncoding	Benign
11	47331429	T	C	T47331429C	MYBPC3	NM_000256.3(MYBPC3):c.*314A>G	noncoding	Benign
11	47331449	A	T	A47331449T	MYBPC3	NM_000256.3(MYBPC3):c.*294T>A	noncoding	Benign
11	47331696	G	A	G47331696A	MYBPC3	NM_000256.3(MYBPC3):c.*47C>T	noncoding	Benign
11	47331760	G	T	G47331760T	MYBPC3	NM_000256.3(MYBPC3):c.*27-44C>A	noncoding	Benign
11	47331829	G	C	G47331829C	MYBPC3	NM_000256.3(MYBPC3):c.*26+16C>G	noncoding	Benign
11	47331893	G	C	G47331893C	MYBPC3	NM_000256.3(MYBPC3):c.3815-12C>G	noncoding	Benign
11	47331947	G	A	G47331947A	MYBPC3	NM_000256.3(MYBPC3):c.3815-66C>T	noncoding	Benign
11	47332081	C	A	C47332081A	MYBPC3	NM_000256.3(MYBPC3):c.3805G>T:p.Glu1269Ter	coding	Pathogenic
11	47332620	C	T	C47332620T	MYBPC3	NM_000256.3(MYBPC3):c.3573G>A:p.Ser1191=	coding	Benign/Likely_benign
11	47332659	G	A	G47332659A	MYBPC3	NM_000256.3(MYBPC3):c.3534C>T:p.Ser1178=	coding	Benign/Likely_benign
11	47332703	C	T	C47332703T	MYBPC3	NM_000256.3(MYBPC3):c.3491-1G>A	coding	Pathogenic
11	47332880	G	A	G47332880A	MYBPC3	NM_000256.3(MYBPC3):c.3424C>T:p.Gln1142Ter	coding	Pathogenic
11	47332891	C	T	C47332891T	MYBPC3	NM_000256.3(MYBPC3):c.3413G>A:p.Arg1138His	coding	Benign/Likely_benign
11	47333094	A	T	A47333094T	MYBPC3	NM_000256.3(MYBPC3):c.3330+100T>A	noncoding	Benign
11	47333193	C	A	C47333193A	MYBPC3	NM_000256.3(MYBPC3):c.3330+1G>T	noncoding	Pathogenic/Likely_pathogenic
11	47333296	G	A	G47333296A	MYBPC3	NM_000256.3(MYBPC3):c.3228C>T:p.Asp1076=	coding	Benign/Likely_benign
11	47333316	G	A	G47333316A	MYBPC3	NM_000256.3(MYBPC3):c.3208C>T:p.Gln1070Ter	coding	Pathogenic
11	47333584	T	A	T47333584A	MYBPC3	NM_000256.3(MYBPC3):c.3163A>T:p.Lys1055Ter	coding	Pathogenic/Likely_pathogenic
11	47333744	G	A	G47333744A	MYBPC3	NM_000256.3(MYBPC3):c.3003C>T:p.Pro1001=	coding	Benign/Likely_benign
11	47334012	T	C	T47334012C	MYBPC3	NM_000256.3(MYBPC3):c.2906-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	47335007	T	C	T47335007C	MYBPC3	NM_000256.3(MYBPC3):c.2905+35A>G	noncoding	Benign/Likely_benign
11	47335032	G	A	G47335032A	MYBPC3	NM_000256.3(MYBPC3):c.2905+10C>T	noncoding	Benign/Likely_benign
11	47335186	G	A	G47335186A	MYBPC3	NM_000256.3(MYBPC3):c.2761C>T:p.Gln921Ter	coding	Pathogenic
11	47335861	G	C	G47335861C	MYBPC3	NM_000256.3(MYBPC3):c.2737+16C>G	noncoding	Benign/Likely_benign
11	47335935	T	G	T47335935G	MYBPC3	NM_000256.3(MYBPC3):c.2679A>C:p.Pro893=	coding	Benign
11	47336010	A	T	A47336010T	MYBPC3	NM_000256.3(MYBPC3):c.2604T>A:p.Gly868=	coding	Benign
11	47336013	T	C	T47336013C	MYBPC3	NM_000256.3(MYBPC3):c.2603-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	47337499	C	A	C47337499A	MYBPC3	NM_000256.3(MYBPC3):c.2494G>T:p.Glu832Ter	coding	Pathogenic
11	47337673	G	A	G47337673A	MYBPC3	NM_000256.3(MYBPC3):c.2413+17C>T	noncoding	Benign/Likely_benign
11	47337739	G	T	G47337739T	MYBPC3	NM_000256.3(MYBPC3):c.2364C>A:p.Cys788Ter	coding	Pathogenic
11	47337821	C	T	C47337821T	MYBPC3	NM_000256.3(MYBPC3):c.2309-27G>A	noncoding	Benign/Likely_benign
11	47338581	G	A	G47338581A	MYBPC3	NM_000256.3(MYBPC3):c.2247C>T:p.Tyr749=	coding	Benign/Likely_benign
11	47338664	C	A	C47338664A	MYBPC3	NM_000256.3(MYBPC3):c.2164G>T:p.Glu722Ter	coding	Pathogenic
11	47338665	G	A	G47338665A	MYBPC3	NM_000256.3(MYBPC3):c.2163C>T:p.Thr721=	coding	Benign/Likely_benign
11	47338681	T	C	T47338681C	MYBPC3	NM_000256.3(MYBPC3):c.2149-2A>G	noncoding	Pathogenic
11	47339303	C	T	C47339303T	MYBPC3	NM_000256.3(MYBPC3):c.2148+21G>A	noncoding	Benign
11	47339340	C	T	C47339340T	MYBPC3	NM_000256.3(MYBPC3):c.2132G>A:p.Trp711Ter	coding	Pathogenic
11	47339533	T	C	T47339533C	MYBPC3	NM_000256.3(MYBPC3):c.2067+118A>G	noncoding	Benign
11	47339765	G	T	G47339765T	MYBPC3	NM_000256.3(MYBPC3):c.1953C>A:p.Cys651Ter	coding	Pathogenic
11	47340880	A	G	A47340880G	MYBPC3	NM_000256.3(MYBPC3):c.1927+123T>C	noncoding	Benign
11	47340914	G	C	G47340914C	MYBPC3	NM_000256.3(MYBPC3):c.1927+89C>G	noncoding	Benign
11	47341027	T	A	T47341027A	MYBPC3	NM_000256.3(MYBPC3):c.1903A>T:p.Lys635Ter	coding	Pathogenic
11	47341204	C	A	C47341204A	MYBPC3	NM_000256.3(MYBPC3):c.1831G>T:p.Glu611Ter	coding	Pathogenic
11	47341983	A	G	A47341983G	MYBPC3	NM_000256.3(MYBPC3):c.1790+8T>C	noncoding	Benign
11	47342005	C	T	C47342005T	MYBPC3	NM_000256.3(MYBPC3):c.1776G>A:p.Val592=	coding	Benign/Likely_benign
11	47342051	C	T	C47342051T	MYBPC3	NM_000256.3(MYBPC3):c.1730G>A:p.Trp577Ter	coding	Pathogenic
11	47342136	G	A	G47342136A	MYBPC3	NM_000256.3(MYBPC3):c.1645C>T:p.Gln549Ter	coding	Pathogenic
11	47342137	G	C	G47342137C	MYBPC3	NM_000256.3(MYBPC3):c.1644C>G:p.Tyr548Ter	coding	Pathogenic/Likely_pathogenic
11	47342565	C	T	C47342565T	MYBPC3	NM_000256.3(MYBPC3):c.1624+13G>A	noncoding	Benign/Likely_benign
11	47342577	C	A	C47342577A	MYBPC3	NM_000256.3(MYBPC3):c.1624+1G>T	noncoding	Pathogenic
11	47342577	C	T	C47342577T	MYBPC3	NM_000256.3(MYBPC3):c.1624+1G>A	noncoding	Pathogenic
11	47342605	G	A	G47342605A	MYBPC3	NM_000256.3(MYBPC3):c.1597C>T:p.Gln533Ter	coding	Pathogenic
11	47342656	C	A	C47342656A	MYBPC3	NM_000256.3(MYBPC3):c.1546G>T:p.Glu516Ter	coding	Pathogenic
11	47342657	G	A	G47342657A	MYBPC3	NM_000256.3(MYBPC3):c.1545C>T:p.Asn515=	coding	Benign/Likely_benign
11	47342708	G	C	G47342708C	MYBPC3	NM_000256.3(MYBPC3):c.1494C>G:p.Thr498=	coding	Benign/Likely_benign
11	47342761	G	A	G47342761A	MYBPC3	NM_000256.3(MYBPC3):c.1458-17C>T	noncoding	Benign/Likely_benign
11	47342840	G	A	G47342840A	MYBPC3	NM_000256.3(MYBPC3):c.1447C>T:p.Gln483Ter	coding	Pathogenic
11	47342867	C	A	C47342867A	MYBPC3	NM_000256.3(MYBPC3):c.1420G>T:p.Glu474Ter	coding	Pathogenic
11	47342883	C	T	C47342883T	MYBPC3	NM_000256.3(MYBPC3):c.1404G>A:p.Gly468=	coding	Benign/Likely_benign
11	47342917	G	A	G47342917A	MYBPC3	NM_000256.3(MYBPC3):c.1370C>T:p.Thr457Met	coding	Benign/Likely_benign
11	47343064	G	T	G47343064T	MYBPC3	NM_000256.3(MYBPC3):c.1308C>A:p.Cys436Ter	coding	Pathogenic
11	47343094	G	T	G47343094T	MYBPC3	NM_000256.3(MYBPC3):c.1278C>A:p.Cys426Ter	coding	Pathogenic
11	47343211	A	G	A47343211G	MYBPC3	NM_000256.3(MYBPC3):c.1226+49T>C	noncoding	Benign
11	47343281	C	T	C47343281T	MYBPC3	NM_000256.3(MYBPC3):c.1224-19G>A	noncoding	Pathogenic/Likely_pathogenic
11	47343626	T	G	T47343626G	MYBPC3	NM_000256.3(MYBPC3):c.1091-2A>C	noncoding	Pathogenic
11	47343672	T	C	T47343672C	MYBPC3	NM_000256.3(MYBPC3):c.1091-48A>G	noncoding	Benign
11	47344358	C	T	C47344358T	MYBPC3	NM_000256.3(MYBPC3):c.1091-734G>A	noncoding	Benign
11	47345820	C	T	C47345820T	MYBPC3	NM_000256.3(MYBPC3):c.1090+387G>A	noncoding	Benign
11	47346178	T	C	T47346178C	MYBPC3	NM_000256.3(MYBPC3):c.1090+29A>G	noncoding	Benign
11	47346226	G	A	G47346226A	MYBPC3	NM_000256.3(MYBPC3):c.1071C>T:p.Arg357=	coding	Benign/Likely_benign
11	47346307	T	G	T47346307G	MYBPC3	NM_000256.3(MYBPC3):c.990A>C:p.Pro330=	coding	Benign
11	47346332	C	T	C47346332T	MYBPC3	NM_000256.3(MYBPC3):c.965G>A:p.Trp322Ter	coding	Pathogenic
11	47346364	C	T	C47346364T	MYBPC3	NM_000256.3(MYBPC3):c.933G>A:p.Ser311=	coding	Benign/Likely_benign
11	47346380	G	T	G47346380T	MYBPC3	NM_000256.3(MYBPC3):c.927-10C>A	noncoding	Pathogenic/Likely_pathogenic
11	47346394	G	A	G47346394A	MYBPC3	NM_000256.3(MYBPC3):c.927-24C>T	noncoding	Benign
11	47346488	G	C	G47346488C	MYBPC3	NM_000256.3(MYBPC3):c.927-118C>G	noncoding	Benign
11	47346489	G	A	G47346489A	MYBPC3	NM_000256.3(MYBPC3):c.927-119C>T	noncoding	Benign
11	47347441	G	C	G47347441C	MYBPC3	NM_000256.3(MYBPC3):c.890C>G:p.Ser297Ter	coding	Pathogenic
11	47347469	C	A	C47347469A	MYBPC3	NM_000256.3(MYBPC3):c.862G>T:p.Glu288Ter	coding	Pathogenic
11	47347640	G	A	G47347640A	MYBPC3	NM_000256.3(MYBPC3):c.851+11C>T	noncoding	Benign/Likely_benign
11	47347891	C	A	C47347891A	MYBPC3	NM_000256.3(MYBPC3):c.787G>T:p.Gly263Ter	coding	Pathogenic
11	47347923	A	G	A47347923G	MYBPC3	NM_000256.3(MYBPC3):c.773-18T>C	noncoding	Benign
11	47347925	A	G	A47347925G	MYBPC3	NM_000256.3(MYBPC3):c.773-20T>C	noncoding	Benign
11	47348530	G	A	G47348530A	MYBPC3	NM_000256.3(MYBPC3):c.666C>T:p.Phe222=	coding	Benign/Likely_benign
11	47349579	G	A	G47349579A	MYBPC3	NM_000256.3(MYBPC3):c.654+195C>T	noncoding	Benign
11	47349756	C	T	C47349756T	MYBPC3	NM_000256.3(MYBPC3):c.654+18G>A	noncoding	Benign/Likely_benign
11	47349762	C	T	C47349762T	MYBPC3	NM_000256.3(MYBPC3):c.654+12G>A	noncoding	Benign/Likely_benign
11	47349763	G	A	G47349763A	MYBPC3	NM_000256.3(MYBPC3):c.654+11C>T	noncoding	Benign/Likely_benign
11	47349789	G	A	G47349789A	MYBPC3	NM_000256.3(MYBPC3):c.639C>T:p.Tyr213=	coding	Benign/Likely_benign
11	47350505	T	A	T47350505A	MYBPC3	NM_000256.3(MYBPC3):c.403A>T:p.Lys135Ter	coding	Pathogenic
11	47350536	G	T	G47350536T	MYBPC3	NM_000256.3(MYBPC3):c.372C>A:p.Ala124=	coding	Benign/Likely_benign
11	47350621	G	A	G47350621A	MYBPC3	NM_000256.3(MYBPC3):c.293-6C>T	noncoding	Benign/Likely_benign
11	47351228	C	G	C47351228G	MYBPC3	NM_000256.3(MYBPC3):c.292+11G>C	noncoding	Benign/Likely_benign
11	47351353	C	A	C47351353A	MYBPC3	NM_000256.3(MYBPC3):c.178G>T:p.Glu60Ter	coding	Pathogenic
11	47351423	T	C	T47351423C	MYBPC3	NM_000256.3(MYBPC3):c.108A>G:p.Ala36=	coding	Benign/Likely_benign
11	47351502	G	T	G47351502T	MYBPC3	NM_000256.3(MYBPC3):c.29C>A:p.Ser10Ter	coding	Pathogenic
11	47359855	G	A	G47359855A	SPI1	NM_003120.3(SPI1):c.328C>T:p.Gln110Ter	coding	Pathogenic
11	47408907	T	C	T47408907C	SLC39A13	NM_001128225.3(SLC39A13):c.-9+245T>C	noncoding	Benign
11	47409739	T	G	T47409739G	SLC39A13	NM_001128225.3(SLC39A13):c.-8-348T>G	noncoding	Benign
11	47409978	G	A	G47409978A	SLC39A13	NM_001128225.3(SLC39A13):c.-8-109G>A	noncoding	Benign
11	47410014	G	A	G47410014A	SLC39A13	NM_001128225.3(SLC39A13):c.-8-73G>A	noncoding	Benign
11	47410483	G	C	G47410483C	SLC39A13	NM_001128225.3(SLC39A13):c.301+88G>C	noncoding	Benign
11	47412369	C	G	C47412369G	SLC39A13	NM_001128225.3(SLC39A13):c.439C>G:p.Gln147Glu	coding	Benign/Likely_benign
11	47413538	G	A	G47413538A	SLC39A13	NM_001128225.3(SLC39A13):c.645+31G>A	noncoding	Benign
11	47413584	C	T	C47413584T	SLC39A13	NM_001128225.3(SLC39A13):c.646-13C>T	noncoding	Benign
11	47414980	G	T	G47414980T	SLC39A13	NM_001128225.3(SLC39A13):c.920-59G>T	noncoding	Benign
11	47415049	T	C	T47415049C	SLC39A13	NM_001128225.3(SLC39A13):c.930T>C:p.Ser310=	coding	Benign/Likely_benign
11	47415651	C	T	C47415651T	SLC39A13	NM_001128225.3(SLC39A13):c.*288C>T	noncoding	Benign
11	47441227	T	C	T47441227C	RAPSN	NM_005055.5(RAPSN):c.913-15A>G	noncoding	Benign/Likely_benign
11	47441685	C	A	C47441685A	RAPSN	NM_005055.5(RAPSN):c.838G>T:p.Gly280Ter	coding	Pathogenic
11	47441900	G	A	G47441900A	RAPSN	NM_005055.5(RAPSN):c.712C>T:p.Gln238Ter	coding	Pathogenic
11	47442667	C	A	C47442667A	RAPSN	NM_005055.5(RAPSN):c.679G>T:p.Glu227Ter	coding	Pathogenic
11	47442747	C	T	C47442747T	RAPSN	NM_005055.5(RAPSN):c.599G>A:p.Trp200Ter	coding	Pathogenic
11	47442809	G	T	G47442809T	RAPSN	NM_005055.5(RAPSN):c.537C>A:p.Tyr179Ter	coding	Pathogenic
11	47442967	G	A	G47442967A	RAPSN	NM_005055.5(RAPSN):c.532-153C>T	noncoding	Benign
11	47443032	C	T	C47443032T	RAPSN	NM_005055.5(RAPSN):c.532-218G>A	noncoding	Benign
11	47447811	C	A	C47447811A	RAPSN	NM_005055.5(RAPSN):c.531+1G>T	noncoding	Pathogenic/Likely_pathogenic
11	47447925	G	A	G47447925A	RAPSN	NM_005055.5(RAPSN):c.418C>T:p.Gln140Ter	coding	Pathogenic
11	47448025	G	T	G47448025T	RAPSN	NM_005055.5(RAPSN):c.318C>A:p.Cys106Ter	coding	Pathogenic
11	47448052	G	T	G47448052T	RAPSN	NM_005055.5(RAPSN):c.291C>A:p.Cys97Ter	coding	Pathogenic
11	47448270	G	A	G47448270A	RAPSN	NM_005055.5(RAPSN):c.193-120C>T	noncoding	Benign
11	47448832	C	T	C47448832T	RAPSN	NM_005055.5(RAPSN):c.133G>A:p.Val45Met	coding	Pathogenic/Likely_pathogenic
11	47448958	G	A	G47448958A	RAPSN	NM_005055.5(RAPSN):c.7C>T:p.Gln3Ter	coding	Pathogenic
11	47449501	C	T	C47449501T	RAPSN	Single_allele	noncoding	Benign
11	47578886	C	T	C47578886T	NDUFS3	NM_018095.6(KBTBD4):c.19+47G>A	coding	Benign
11	47580425	C	T	C47580425T	NDUFS3	NM_004551.3(NDUFS3):c.134-100C>T	noncoding	Benign
11	47582125	G	A	G47582125A	NDUFS3	NM_004551.3(NDUFS3):c.419G>A:p.Arg140Gln	coding	Pathogenic
11	47582140	C	T	C47582140T	NDUFS3	NM_004551.3(NDUFS3):c.434C>T:p.Thr145Ile	coding	Pathogenic/Likely_pathogenic
11	47798388	C	T	C47798388T	NUP160	NM_015231.3(NUP160):c.2869G>A:p.Gly957Ser	coding	Benign
11	47804538	A	C	A47804538C	NUP160	NM_015231.3(NUP160):c.2574+11T>G	noncoding	Benign
11	47812384	C	T	C47812384T	NUP160	NM_015231.3(NUP160):c.1896G>A:p.Arg632=	coding	Benign
11	47813040	G	A	G47813040A	NUP160	NM_015231.3(NUP160):c.1692C>T:p.Asp564=	coding	Benign
11	47822082	C	T	C47822082T	NUP160	NM_015231.3(NUP160):c.1077+5G>A	noncoding	Pathogenic
11	47835701	T	C	T47835701C	NUP160	NM_015231.3(NUP160):c.949A>G:p.Thr317Ala	coding	Benign
11	47848303	C	A	C47848303A	NUP160	NM_015231.3(NUP160):c.16G>T:p.Ala6Ser	coding	Benign
11	47848303	C	T	C47848303T	NUP160	NM_015231.3(NUP160):c.16G>A:p.Ala6Thr	coding	Benign
11	48123823	A	C	A48123823C	PTPRJ	NM_002843.4(PTPRJ):c.827A>C:p.Gln276Pro	coding	Benign
11	49206068	A	G	A49206068G	FOLH1	NM_004476.3(FOLH1):c.223T>C:p.Tyr75His	coding	Benign
11	56664191	G	A	G56664191A	OR5AR1	NM_001004730.1(OR5AR1):c.506G>A:p.Cys169Tyr	coding	Benign
11	57597582	C	T	C57597582T	SERPING1	NG_009625.1:g.5029C>t	noncoding	Pathogenic
11	57598295	A	C	A57598295C	SERPING1	NM_000062.3(SERPING1):c.25A>C:p.Thr9Pro	coding	Benign
11	57598322	G	A	G57598322A	SERPING1	NM_000062.3(SERPING1):c.51+1G>A	coding	Pathogenic
11	57598324	A	G	A57598324G	SERPING1	NM_000062.3(SERPING1):c.51+3A>G	noncoding	Pathogenic
11	57599863	G	A	G57599863A	SERPING1	NM_000062.3(SERPING1):c.52-16G>A	noncoding	Benign
11	57600048	C	A	C57600048A	SERPING1	NM_000062.3(SERPING1):c.221C>A:p.Ser74Ter	coding	Pathogenic
11	57600056	A	T	A57600056T	SERPING1	NM_000062.3(SERPING1):c.229A>T:p.Lys77Ter	coding	Pathogenic
11	57600173	C	T	C57600173T	SERPING1	NM_000062.3(SERPING1):c.346C>T:p.Gln116Ter	coding	Pathogenic
11	57600227	G	T	G57600227T	SERPING1	NM_000062.3(SERPING1):c.400G>T:p.Glu134Ter	coding	Pathogenic
11	57600378	G	T	G57600378T	SERPING1	NM_000062.3(SERPING1):c.550+1G>T	coding	Pathogenic
11	57602019	C	G	C57602019G	SERPING1	NM_000062.3(SERPING1):c.551-16C>G	noncoding	Benign
11	57602034	G	C	G57602034C	SERPING1	NM_000062.3(SERPING1):c.551-1G>C	noncoding	Pathogenic
11	57602098	G	A	G57602098A	SERPING1	NM_000062.3(SERPING1):c.614G>A:p.Cys205Tyr	coding	Pathogenic
11	57602170	G	A	G57602170A	SERPING1	NM_000062.3(SERPING1):c.685+1G>A	coding	Pathogenic
11	57602170	G	T	G57602170T	SERPING1	NM_000062.3(SERPING1):c.685+1G>T	coding	Pathogenic
11	57602171	T	G	T57602171G	SERPING1	NM_000062.3(SERPING1):c.685+2T>G	noncoding	Pathogenic
11	57611861	C	T	C57611861T	SERPING1	NM_000062.3(SERPING1):c.1174C>T:p.Gln392Ter	coding	Pathogenic
11	57611883	C	T	C57611883T	SERPING1	NM_000062.3(SERPING1):c.1196C>T:p.Pro399Leu	coding	Pathogenic
11	57611938	T	C	T57611938C	SERPING1	NM_000062.3(SERPING1):c.1249+2T>C	noncoding	Pathogenic
11	57614327	G	C	G57614327C	SERPING1	NM_000062.3(SERPING1):c.1250-1G>C	noncoding	Pathogenic
11	57614347	T	A	T57614347A	SERPING1	NM_000062.3(SERPING1):c.1269T>A:p.Tyr423Ter	coding	Pathogenic
11	57614361	G	A	G57614361A	SERPING1	NM_000062.3(SERPING1):c.1283G>A:p.Cys428Tyr	coding	Pathogenic
11	57614387	C	T	C57614387T	SERPING1	NM_000062.3(SERPING1):c.1309C>T:p.Gln437Ter	coding	Pathogenic
11	57614507	T	C	T57614507C	SERPING1	NM_000062.3(SERPING1):c.1429T>C:p.Phe477Leu	coding	Pathogenic
11	57614528	C	T	C57614528T	SERPING1	NM_000062.3(SERPING1):c.1450C>T:p.Gln484Ter	coding	Pathogenic
11	57660990	C	T	C57660990T	CLP1	NM_006831.3(CLP1):c.832C>T:p.Leu278=	coding	Benign
11	57796519	C	T	C57796519T	CTNND1	NM_001085458.2(CTNND1):c.483C>T:p.Asp161=	coding	Benign
11	57797124	G	T	G57797124T	CTNND1	NM_001085458.2(CTNND1):c.956+132G>T	noncoding	Benign
11	57802356	A	T	A57802356T	CTNND1	NM_001085458.2(CTNND1):c.1420+160A>T	noncoding	Benign
11	57809154	A	G	A57809154G	CTNND1	NM_001085458.2(CTNND1):c.2243-120A>G	noncoding	Benign
11	57809420	C	T	C57809420T	CTNND1	NM_001085458.2(CTNND1):c.2389C>T:p.Arg797Ter	coding	Pathogenic
11	57809624	A	G	A57809624G	CTNND1	NM_001085458.2(CTNND1):c.2435+158A>G	noncoding	Benign
11	57814141	C	A	C57814141A	CTNND1	NM_001085458.2(CTNND1):c.2639-170C>A	noncoding	Benign
11	57815436	G	A	G57815436A	CTNND1	NM_001085458.2(CTNND1):c.2744G>A:p.Arg915Lys	coding	Benign
11	57816074	C	T	C57816074T	CTNND1	NM_001085458.2(CTNND1):c.2895+73C>T	noncoding	Benign
11	59125983	T	G	T59125983G	FAM111B	NM_198947.4(FAM111B):c.1886T>G:p.Phe629Cys	coding	Pathogenic
11	59126237	G	A	G59126237A	FAM111B	NM_198947.4(FAM111B):c.2140G>A:p.Asp714Asn	coding	Benign
11	59148565	A	G	A59148565G	FAM111A	NM_001312909.2(FAM111A):c.-76-232A>G	noncoding	Benign
11	59151621	A	T	A59151621T	FAM111A	NM_001312909.2(FAM111A):c.82-129A>T	noncoding	Benign
11	59151984	A	G	A59151984G	FAM111A	NM_001312909.2(FAM111A):c.316A>G:p.Met106Val	coding	Benign
11	59152032	C	T	C59152032T	FAM111A	NM_001312909.2(FAM111A):c.364C>T:p.Gln122Ter	coding	Pathogenic
11	59152340	A	G	A59152340G	FAM111A	NM_001312909.2(FAM111A):c.672A>G:p.Ala224=	coding	Benign
11	59153019	C	G	C59153019G	FAM111A	NM_001312909.2(FAM111A):c.1351C>G:p.Gln451Glu	coding	Benign
11	59211653	G	T	G59211653T	MPEG1	NM_001039396.2(MPEG1):c.1213C>A:p.Pro405Thr	coding	Pathogenic
11	59211674	G	A	G59211674A	MPEG1	NM_001039396.2(MPEG1):c.1192C>T:p.Gln398Ter	coding	Pathogenic
11	59443715	G	A	G59443715A	OR5A1	NM_001004728.2(OR5A1):c.547G>A:p.Asp183Asn	coding	Benign
11	59713496	A	G	A59713496G	OR10V1	NM_001005324.1(OR10V1):c.350T>C:p.Val117Ala	coding	Benign
11	59755647	C	T	C59755647T	STX3	NM_004177.5(STX3):c.30+12C>T	noncoding	Benign
11	59787035	A	G	A59787035G	STX3	NM_004177.5(STX3):c.115-2A>G	noncoding	Pathogenic
11	59788886	C	T	C59788886T	STX3	NM_004177.5(STX3):c.228C>T:p.Asp76=	coding	Benign
11	59795435	C	T	C59795435T	STX3	NM_004177.5(STX3):c.739C>T:p.Arg247Ter	coding	Pathogenic
11	59840907	A	G	A59840907G	CBLIF	NM_005142.3(CBLIF):c.693+236T>C	noncoding	Benign
11	59842989	A	G	A59842989G	CBLIF	NM_005142.3(CBLIF):c.370+39T>C	noncoding	Benign
11	59844088	A	G	A59844088G	CBLIF	NM_005142.3(CBLIF):c.80-33T>C	noncoding	Benign
11	59845184	A	G	A59845184G	CBLIF	NM_005142.3(CBLIF):c.79+191T>C	noncoding	Benign
11	59853222	T	G	T59853222G	TCN1	NM_001062.4(TCN1):c.1221A>C:p.Gly407=	coding	Benign
11	59853537	G	T	G59853537T	TCN1	NM_001062.4(TCN1):c.1122-216C>A	noncoding	Benign
11	59854659	T	C	T59854659C	TCN1	NM_001062.4(TCN1):c.1114A>G:p.Ile372Val	coding	Benign
11	59855960	G	A	G59855960A	TCN1	NM_001062.4(TCN1):c.846C>T:p.Ser282=	coding	Benign
11	59856073	T	G	T59856073G	TCN1	NM_001062.4(TCN1):c.748-15A>C	noncoding	Benign
11	59856078	T	G	T59856078G	TCN1	NM_001062.4(TCN1):c.748-20A>C	noncoding	Benign
11	59861594	G	A	G59861594A	TCN1	NM_001062.4(TCN1):c.489C>T:p.Thr163=	coding	Benign
11	59861832	C	T	C59861832T	TCN1	NM_001062.4(TCN1):c.401-150G>A	noncoding	Benign
11	59866402	G	T	G59866402T	TCN1	NM_001062.4(TCN1):c.69C>A:p.Cys23Ter	coding	Pathogenic
11	60302703	A	G	A60302703G	MS4A4A	NM_148975.3(MS4A4A):c.532A>G:p.Met178Val	coding	Benign
11	60462204	C	T	C60462204T	MS4A1	NM_152866.3(MS4A1):c.-171C>T	noncoding	Benign
11	60462984	C	G	C60462984G	MS4A1	NM_152866.3(MS4A1):c.160-18C>G	noncoding	Benign
11	60463050	C	T	C60463050T	MS4A1	NM_152866.3(MS4A1):c.208C>T:p.Leu70=	coding	Benign
11	60463249	G	T	G60463249T	MS4A1	NM_152866.3(MS4A1):c.279+128G>T	noncoding	Benign
11	60464513	G	A	G60464513A	MS4A1	NM_152866.3(MS4A1):c.336+169G>A	noncoding	Benign
11	60468210	G	T	G60468210T	MS4A1	NM_152866.3(MS4A1):c.676-40G>T	noncoding	Benign
11	60468453	T	C	T60468453C	MS4A1	NM_152866.3(MS4A1):c.879T>C:p.Asn293=	coding	Benign
11	60867618	T	C	T60867618C	ZP1	NM_207341.4(ZP1):c.57T>C:p.Val19=	coding	Benign
11	60869691	C	T	C60869691T	ZP1	NM_207341.4(ZP1):c.473C>T:p.Thr158Ile	coding	Benign
11	60870988	C	T	C60870988T	ZP1	NM_207341.4(ZP1):c.858C>T:p.Phe286=	coding	Benign
11	60873007	C	A	C60873007A	ZP1	NM_207341.4(ZP1):c.1113-155C>A	noncoding	Benign
11	60874852	G	A	G60874852A	ZP1	NM_207341.4(ZP1):c.1573-81G>A	noncoding	Benign
11	61119441	C	T	C61119441T	CD5	NM_014207.4(CD5):c.671C>T:p.Pro224Leu	coding	Benign
11	61125763	C	T	C61125763T	CD5	NM_014207.4(CD5):c.1412C>T:p.Ala471Val	coding	Benign
11	61316508	A	C	A61316508C	DDB1	NM_001923.5(DDB1):c.1285T>G:p.Phe429Val	coding	Pathogenic
11	61326806	C	T	C61326806T	DDB1	NM_001923.5(DDB1):c.637G>A:p.Glu213Lys	coding	Pathogenic
11	61326880	C	T	C61326880T	DDB1	NM_001923.5(DDB1):c.563G>A:p.Arg188Gln	coding	Pathogenic
11	61326881	G	A	G61326881A	DDB1	NM_001923.5(DDB1):c.562C>T:p.Arg188Trp	coding	Pathogenic
11	61339053	C	T	C61339053T	TKFC	NM_015533.4(TKFC):c.194-13C>T	noncoding	Benign
11	61339420	G	C	G61339420C	TKFC	NM_015533.4(TKFC):c.471G>C:p.Thr157=	coding	Benign
11	61341502	G	A	G61341502A	TKFC	NM_015533.4(TKFC):c.553G>A:p.Ala185Thr	coding	Benign
11	61342697	A	C	A61342697C	TKFC	NM_015533.4(TKFC):c.775+39A>C	noncoding	Benign
11	61345330	C	T	C61345330T	TKFC	NM_015533.4(TKFC):c.1311C>T:p.Val437=	coding	Benign
11	61364146	A	G	A61364146G	TMEM138	NM_016464.5(TMEM138):c.-139-106A>G	noncoding	Benign
11	61364484	C	T	C61364484T	TMEM138	NM_016464.5(TMEM138):c.94C>T:p.Gln32Ter	coding	Pathogenic
11	61366203	A	G	A61366203G	TMEM138	NM_016464.5(TMEM138):c.287A>G:p.His96Arg	coding	Pathogenic/Likely_pathogenic
11	61368205	T	C	T61368205C	TMEM138	NM_016464.5(TMEM138):c.376+207T>C	noncoding	Benign
11	61393283	G	A	G61393283A	TMEM216	NM_001173990.3(TMEM216):c.87G>A:p.Trp29Ter	coding	Pathogenic
11	61394054	A	G	A61394054G	TMEM216	NM_001173990.3(TMEM216):c.229+78A>G	noncoding	Benign
11	61397793	C	A	C61397793A	TMEM216	NM_001173990.3(TMEM216):c.249C>A:p.Cys83Ter	coding	Pathogenic
11	61398237	A	G	A61398237G	TMEM216	NM_001173990.3(TMEM216):c.432-33A>G	noncoding	Benign
11	61398260	G	C	G61398260C	TMEM216	NM_001173990.3(TMEM216):c.432-10G>C	noncoding	Benign
11	61430161	A	G	A61430161G	SDHAF2	NM_017841.4(SDHAF2):c.15A>G:p.Thr5=	coding	Benign/Likely_benign
11	61437718	C	T	C61437718T	SDHAF2	NM_017841.4(SDHAF2):c.130C>T:p.Gln44Ter	coding	Pathogenic
11	61437804	T	A	T61437804A	SDHAF2	NM_017841.4(SDHAF2):c.216T>A:p.Tyr72Ter	coding	Pathogenic
11	61437860	G	A	G61437860A	SDHAF2	NM_017841.4(SDHAF2):c.260+12G>A	noncoding	Benign/Likely_benign
11	61438058	T	A	T61438058A	SDHAF2	NM_017841.4(SDHAF2):c.315T>A:p.Tyr105Ter	coding	Pathogenic/Likely_pathogenic
11	61438062	C	T	C61438062T	SDHAF2	NM_017841.4(SDHAF2):c.319C>T:p.Arg107Cys	coding	Benign/Likely_benign
11	61446083	C	T	C61446083T	SDHAF2	NM_017841.4(SDHAF2):c.*12C>T	noncoding	Benign/Likely_benign
11	61743661	G	A	G61743661A	DAGLA	NM_006133.3(DAGLA):c.2301G>A:p.Ala767=	coding	Benign
11	61752514	C	G	C61752514G	MYRF	Single_allele	noncoding	Benign
11	61755487	G	T	G61755487T	MYRF	NM_001127392.3(MYRF):c.46+2697G>T	noncoding	Benign
11	61766325	A	T	A61766325T	MYRF	NM_001127392.3(MYRF):c.398+104A>T	noncoding	Benign
11	61766436	T	C	T61766436C	MYRF	NM_001127392.3(MYRF):c.398+215T>C	noncoding	Benign
11	61769111	G	A	G61769111A	MYRF	NM_001127392.3(MYRF):c.399-149G>A	noncoding	Benign
11	61770057	T	G	T61770057G	MYRF	NM_001127392.3(MYRF):c.461-189T>G	noncoding	Benign
11	61770218	G	A	G61770218A	MYRF	NM_001127392.3(MYRF):c.461-28G>A	noncoding	Benign
11	61770433	C	A	C61770433A	MYRF	NM_001127392.3(MYRF):c.648C>A:p.Tyr216Ter	coding	Pathogenic
11	61771548	C	G	C61771548G	MYRF	NM_001127392.3(MYRF):c.789C>G:p.Pro263=	coding	Benign
11	61771909	C	T	C61771909T	MYRF	NM_001127392.3(MYRF):c.1072C>T:p.Gln358Ter	coding	Pathogenic
11	61776027	T	C	T61776027C	MYRF	NM_001127392.3(MYRF):c.1312-29T>C	noncoding	Benign
11	61776489	T	C	T61776489C	MYRF	NM_001127392.3(MYRF):c.1499+57T>C	noncoding	Benign
11	61777378	G	T	G61777378T	MYRF	NM_001127392.3(MYRF):c.1705G>T:p.Glu569Ter	coding	Pathogenic
11	61779120	A	G	A61779120G	MYRF	NM_001127392.3(MYRF):c.2014-143A>G	noncoding	Benign
11	61779596	G	A	G61779596A	MYRF	NM_001127392.3(MYRF):c.2247+26G>A	noncoding	Benign
11	61779765	C	T	C61779765T	MYRF	NM_001127392.3(MYRF):c.2248-77C>T	noncoding	Benign
11	61781087	A	G	A61781087G	MYRF	NM_001127392.3(MYRF):c.2572+42A>G	noncoding	Benign
11	61781324	G	A	G61781324A	MYRF	NM_001127392.3(MYRF):c.2759G>A:p.Arg920His	coding	Benign
11	61781402	G	A	G61781402A	MYRF	NM_001127392.3(MYRF):c.2764+73G>A	noncoding	Benign
11	61781553	G	A	G61781553A	MYRF	NM_001127392.3(MYRF):c.2765-20G>A	noncoding	Benign
11	61781986	A	G	A61781986G	MYRF	NM_001127392.3(MYRF):c.3016+162A>G	noncoding	Benign
11	61783884	T	C	T61783884C	MYRF	NM_001127392.3(MYRF):c.3153T>C:p.Ser1051=	coding	Benign
11	61784455	A	C	A61784455C	MYRF	NM_001127392.3(MYRF):c.3300+70A>C	noncoding	Benign
11	61785729	G	A	G61785729A	MYRF	NM_001127392.3(MYRF):c.3301-71G>A	noncoding	Benign
11	61834531	C	G	C61834531G	FADS2	NM_004265.4(FADS2):c.208-3247C>G	noncoding	Benign
11	61950564	G	A	G61950564A	BEST1	NM_004183.4(BEST1):c.-37+137G>A	noncoding	Benign
11	61951554	G	A	G61951554A	BEST1	NM_004183.4(BEST1):c.-36-217G>A	noncoding	Benign
11	61951598	T	C	T61951598C	BEST1	NM_004183.4(BEST1):c.-36-173T>C	noncoding	Benign
11	61951811	C	G	C61951811G	BEST1	NM_004183.4(BEST1):c.5C>G:p.Thr2Ser	coding	Pathogenic/Likely_pathogenic
11	61951823	C	G	C61951823G	BEST1	NM_004183.4(BEST1):c.17C>G:p.Thr6Arg	coding	Pathogenic
11	61951844	G	A	G61951844A	BEST1	NM_004183.4(BEST1):c.38G>A:p.Arg13His	coding	Pathogenic/Likely_pathogenic
11	61951853	C	A	C61951853A	BEST1	NM_004183.4(BEST1):c.47C>A:p.Ser16Tyr	coding	Pathogenic
11	61951853	C	T	C61951853T	BEST1	NM_004183.4(BEST1):c.47C>T:p.Ser16Phe	coding	Pathogenic
11	61951878	G	A	G61951878A	BEST1	NM_004183.4(BEST1):c.72G>A:p.Trp24Ter	coding	Pathogenic
11	61951908	C	T	C61951908T	BEST1	NM_004183.4(BEST1):c.102C>T:p.Gly34=	coding	Pathogenic
11	61955093	A	C	A61955093C	BEST1	NM_004183.4(BEST1):c.153-14A>C	noncoding	Benign
11	61955144	A	T	A61955144T	BEST1	NM_004183.4(BEST1):c.190A>T:p.Lys64Ter	coding	Pathogenic
11	61955178	T	C	T61955178C	BEST1	NM_004183.4(BEST1):c.224T>C:p.Leu75Pro	coding	Pathogenic
11	61955195	G	A	G61955195A	BEST1	NM_004183.4(BEST1):c.241G>A:p.Val81Met	coding	Pathogenic/Likely_pathogenic
11	61955198	C	G	C61955198G	BEST1	NM_004183.4(BEST1):c.244C>G:p.Leu82Val	coding	Pathogenic/Likely_pathogenic
11	61955366	T	A	T61955366A	BEST1	NM_004183.4(BEST1):c.247+165T>A	noncoding	Benign
11	61955745	G	A	G61955745A	BEST1	NM_004183.4(BEST1):c.275G>A:p.Arg92His	coding	Pathogenic
11	61955758	G	C	G61955758C	BEST1	NM_004183.4(BEST1):c.288G>C:p.Gln96His	coding	Pathogenic
11	61955771	C	A	C61955771A	BEST1	NM_004183.4(BEST1):c.301C>A:p.Pro101Thr	coding	Pathogenic
11	61955870	C	G	C61955870G	BEST1	NM_004183.4(BEST1):c.400C>G:p.Leu134Val	coding	Pathogenic/Likely_pathogenic
11	61955891	C	A	C61955891A	BEST1	NM_004183.4(BEST1):c.421C>A:p.Arg141Ser	coding	Pathogenic/Likely_pathogenic
11	61955897	G	T	G61955897T	BEST1	NM_004183.4(BEST1):c.427G>T:p.Val143Phe	coding	Pathogenic
11	61955924	C	G	C61955924G	BEST1	NM_004183.4(BEST1):c.454C>G:p.Pro152Ala	coding	Pathogenic
11	61955945	C	T	C61955945T	BEST1	NM_004183.4(BEST1):c.475C>T:p.Gln159Ter	coding	Pathogenic
11	61956084	A	G	A61956084G	BEST1	NM_004183.4(BEST1):c.481+133A>G	noncoding	Benign
11	61956161	C	T	C61956161T	BEST1	NM_004183.4(BEST1):c.481+210C>T	noncoding	Benign
11	61956231	A	T	A61956231T	BEST1	NM_004183.4(BEST1):c.481+280A>T	noncoding	Benign
11	61956820	C	T	C61956820T	BEST1	NM_004183.4(BEST1):c.482-24C>T	noncoding	Benign
11	61957042	C	T	C61957042T	BEST1	NM_004183.4(BEST1):c.636+44C>T	noncoding	Benign
11	61957111	T	G	T61957111G	BEST1	NM_004183.4(BEST1):c.636+113T>G	noncoding	Benign
11	61957179	C	A	C61957179A	BEST1	NM_004183.4(BEST1):c.636+181C>A	noncoding	Benign
11	61957369	C	G	C61957369G	BEST1	NM_004183.4(BEST1):c.637-18C>G	noncoding	Benign
11	61957408	C	T	C61957408T	BEST1	NM_004183.4(BEST1):c.658C>T:p.Gln220Ter	coding	Pathogenic/Likely_pathogenic
11	61957421	T	G	T61957421G	BEST1	NM_004183.4(BEST1):c.671T>G:p.Leu224Arg	coding	Pathogenic
11	61957430	A	G	A61957430G	BEST1	NM_004183.4(BEST1):c.680A>G:p.Tyr227Cys	coding	Pathogenic/Likely_pathogenic
11	61957459	A	T	A61957459T	BEST1	NM_004183.4(BEST1):c.709A>T:p.Thr237Ser	coding	Pathogenic
11	61957477	C	T	C61957477T	BEST1	NM_004183.4(BEST1):c.714+13C>T	noncoding	Benign
11	61957535	T	A	T61957535A	BEST1	NM_004183.4(BEST1):c.714+71T>A	noncoding	Benign
11	61957702	T	C	T61957702C	BEST1	NM_004183.4(BEST1):c.714+238T>C	noncoding	Benign
11	61957703	G	A	G61957703A	BEST1	NM_004183.4(BEST1):c.714+239G>A	noncoding	Benign
11	61958026	A	G	A61958026G	BEST1	NM_004183.4(BEST1):c.715-120A>G	noncoding	Benign
11	61958153	C	A	C61958153A	BEST1	NM_004183.4(BEST1):c.722C>A:p.Thr241Asn	coding	Pathogenic
11	61958168	G	A	G61958168A	BEST1	NM_004183.4(BEST1):c.737G>A:p.Ser246Asn	coding	Pathogenic
11	61958261	C	T	C61958261T	BEST1	NM_004183.4(BEST1):c.830C>T:p.Thr277Met	coding	Pathogenic
11	61958291	G	A	G61958291A	BEST1	NM_004183.4(BEST1):c.860G>A:p.Trp287Ter	coding	Pathogenic
11	61958625	T	G	T61958625G	BEST1	NM_004183.4(BEST1):c.867+327T>G	noncoding	Benign
11	61959399	G	T	G61959399T	BEST1	NM_004183.4(BEST1):c.868-99G>T	noncoding	Benign
11	61959481	C	A	C61959481A	BEST1	NM_004183.4(BEST1):c.868-17C>A	noncoding	Benign
11	61959497	G	A	G61959497A	BEST1	NM_004183.4(BEST1):c.868-1G>A	noncoding	Pathogenic
11	61959507	C	A	C61959507A	BEST1	NM_004183.4(BEST1):c.877C>A:p.Gln293Lys	coding	Pathogenic
11	61959509	G	C	G61959509C	BEST1	NM_004183.4(BEST1):c.879G>C:p.Gln293His	coding	Pathogenic
11	61959514	T	C	T61959514C	BEST1	NM_004183.4(BEST1):c.884T>C:p.Ile295Thr	coding	Pathogenic
11	61959516	A	C	A61959516C	BEST1	NM_004183.4(BEST1):c.886A>C:p.Asn296His	coding	Pathogenic
11	61959520	C	A	C61959520A	BEST1	NM_004183.4(BEST1):c.890C>A:p.Pro297His	coding	Pathogenic
11	61959532	A	G	A61959532G	BEST1	NM_004183.4(BEST1):c.902A>G:p.Asp301Gly	coding	Pathogenic
11	61959539	T	A	T61959539A	BEST1	NM_004183.4(BEST1):c.909T>A:p.Asp303Glu	coding	Pathogenic
11	61959544	T	C	T61959544C	BEST1	NM_004183.4(BEST1):c.914T>C:p.Phe305Ser	coding	Pathogenic
11	61959559	T	C	T61959559C	BEST1	NM_004183.4(BEST1):c.929T>C:p.Ile310Thr	coding	Pathogenic
11	61960009	C	T	C61960009T	BEST1	NM_004183.4(BEST1):c.1066C>T:p.Arg356Ter	coding	Pathogenic
11	61960319	G	A	G61960319A	BEST1	NM_004183.4(BEST1):c.1100+276G>A	noncoding	Benign
11	61962706	G	T	G61962706T	BEST1	NM_004183.4(BEST1):c.1552G>T:p.Glu518Ter	coding	Pathogenic/Likely_pathogenic
11	61962942	C	A	C61962942A	BEST1	NM_004183.4(BEST1):c.1739+49C>A	coding	Benign
11	61962955	G	T	G61962955T	BEST1	NM_004183.4(BEST1):c.1739+62G>T	coding	Benign
11	61963081	T	C	T61963081C	BEST1	NM_004183.4(BEST1):c.1739+188T>C	coding	Benign
11	61964062	G	T	G61964062T	BEST1	NM_004183.4(BEST1):c.1740-42G>T	noncoding	Benign
11	61964255	T	C	T61964255C	BEST1;FTH1	NM_004183.4(BEST1):c.*133T>C	noncoding	Benign/Likely_benign
11	61965778	G	A	G61965778A	FTH1	NM_002032.3(FTH1):c.115-263C>T	noncoding	Benign
11	61967163	G	A	G61967163A	FTH1	NM_002032.3(FTH1):c.114+149C>T	noncoding	Benign
11	61967704	C	A	C61967704A	FTH1	Single_allele	noncoding	Benign
11	62128004	G	A	G62128004A	INCENP	NM_001040694.2(INCENP):c.-11-147G>A	noncoding	Benign
11	62128069	A	G	A62128069G	INCENP	NM_001040694.2(INCENP):c.-11-82A>G	noncoding	Benign
11	62128269	A	G	A62128269G	INCENP	NM_001040694.2(INCENP):c.108A>G:p.Glu36=	coding	Benign
11	62128743	G	A	G62128743A	INCENP	NM_001040694.2(INCENP):c.141-27G>A	noncoding	Benign
11	62129117	T	G	T62129117G	INCENP	NM_001040694.2(INCENP):c.254+234T>G	noncoding	Benign
11	62129601	C	T	C62129601T	INCENP	NM_001040694.2(INCENP):c.255-181C>T	noncoding	Benign
11	62129725	C	T	C62129725T	INCENP	NM_001040694.2(INCENP):c.255-57C>T	noncoding	Benign
11	62129887	C	T	C62129887T	INCENP	NM_001040694.2(INCENP):c.360C>T:p.Val120=	coding	Benign
11	62129937	C	T	C62129937T	INCENP	NM_001040694.2(INCENP):c.410C>T:p.Ala137Val	coding	Benign
11	62130702	T	C	T62130702C	INCENP	NM_001040694.2(INCENP):c.1063+112T>C	noncoding	Benign
11	62130720	G	A	G62130720A	INCENP	NM_001040694.2(INCENP):c.1063+130G>A	noncoding	Benign
11	62138513	G	A	G62138513A	INCENP	NM_001040694.2(INCENP):c.1116-200G>A	noncoding	Benign
11	62138827	A	G	A62138827G	INCENP	NM_001040694.2(INCENP):c.1173+57A>G	noncoding	Benign
11	62138902	T	C	T62138902C	INCENP	NM_001040694.2(INCENP):c.1188T>C:p.Asn396=	coding	Benign
11	62139066	G	A	G62139066A	INCENP	NM_001040694.2(INCENP):c.1291+61G>A	noncoding	Benign
11	62140159	T	A	T62140159A	INCENP	NM_001040694.2(INCENP):c.1292-75T>A	noncoding	Benign
11	62140244	G	A	G62140244A	INCENP	NM_001040694.2(INCENP):c.1302G>A:p.Thr434=	coding	Benign
11	62140349	C	A	C62140349A	INCENP	NM_001040694.2(INCENP):c.1343+64C>A	noncoding	Benign
11	62140437	A	G	A62140437G	INCENP	NM_001040694.2(INCENP):c.1343+152A>G	noncoding	Benign
11	62140497	C	T	C62140497T	INCENP	NM_001040694.2(INCENP):c.1344-207C>T	noncoding	Benign
11	62140550	G	A	G62140550A	INCENP	NM_001040694.2(INCENP):c.1344-154G>A	noncoding	Benign
11	62140968	T	C	T62140968C	INCENP	NM_001040694.2(INCENP):c.1517T>C:p.Met506Thr	coding	Benign
11	62141052	G	T	G62141052T	INCENP	NM_001040694.2(INCENP):c.1593+8G>T	noncoding	Benign
11	62141200	G	A	G62141200A	INCENP	NM_001040694.2(INCENP):c.1593+156G>A	noncoding	Benign
11	62144738	C	T	C62144738T	INCENP	NM_001040694.2(INCENP):c.1606-244C>T	noncoding	Benign
11	62144928	G	A	G62144928A	INCENP	NM_001040694.2(INCENP):c.1606-54G>A	noncoding	Benign
11	62145607	C	T	C62145607T	INCENP	NM_001040694.2(INCENP):c.1837-22C>T	noncoding	Benign
11	62145619	G	C	G62145619C	INCENP	NM_001040694.2(INCENP):c.1837-10G>C	noncoding	Benign
11	62145724	G	T	G62145724T	INCENP	NM_001040694.2(INCENP):c.1932G>T:p.Glu644Asp	coding	Benign
11	62145760	A	G	A62145760G	INCENP	NM_001040694.2(INCENP):c.1959+9A>G	noncoding	Benign
11	62145885	G	T	G62145885T	INCENP	NM_001040694.2(INCENP):c.1959+134G>T	noncoding	Benign
11	62145890	C	G	C62145890G	INCENP	NM_001040694.2(INCENP):c.1959+139C>G	noncoding	Benign
11	62145924	T	C	T62145924C	INCENP	NM_001040694.2(INCENP):c.1959+173T>C	noncoding	Benign
11	62146484	C	T	C62146484T	INCENP	NM_001040694.2(INCENP):c.1960-174C>T	noncoding	Benign
11	62146531	G	A	G62146531A	INCENP	NM_001040694.2(INCENP):c.1960-127G>A	noncoding	Benign
11	62146584	G	A	G62146584A	INCENP	NM_001040694.2(INCENP):c.1960-74G>A	noncoding	Benign
11	62146650	T	C	T62146650C	INCENP	NM_001040694.2(INCENP):c.1960-8T>C	noncoding	Benign
11	62146788	G	A	G62146788A	INCENP	NM_001040694.2(INCENP):c.2090G>A:p.Arg697Gln	coding	Benign
11	62146810	G	A	G62146810A	INCENP	NM_001040694.2(INCENP):c.2112G>A:p.Glu704=	coding	Benign
11	62146897	C	T	C62146897T	INCENP	NM_001040694.2(INCENP):c.2199C>T:p.Ala733=	coding	Benign
11	62146991	T	C	T62146991C	INCENP	NM_001040694.2(INCENP):c.2204+89T>C	noncoding	Benign
11	62147080	A	G	A62147080G	INCENP	NM_001040694.2(INCENP):c.2204+178A>G	noncoding	Benign
11	62148278	C	A	C62148278A	INCENP	NM_001040694.2(INCENP):c.2205-198C>A	noncoding	Benign
11	62148351	A	G	A62148351G	INCENP	NM_001040694.2(INCENP):c.2205-125A>G	noncoding	Benign
11	62148435	C	G	C62148435G	INCENP	NM_001040694.2(INCENP):c.2205-41C>G	noncoding	Benign
11	62148574	G	A	G62148574A	INCENP	NM_001040694.2(INCENP):c.2283+20G>A	noncoding	Benign
11	62148618	C	T	C62148618T	INCENP	NM_001040694.2(INCENP):c.2283+64C>T	noncoding	Benign
11	62148840	C	T	C62148840T	INCENP	NM_001040694.2(INCENP):c.2385C>T:p.Asp795=	coding	Benign
11	62148851	C	A	C62148851A	INCENP	NM_001040694.2(INCENP):c.2391+5C>A	noncoding	Benign
11	62148852	A	G	A62148852G	INCENP	NM_001040694.2(INCENP):c.2391+6A>G	noncoding	Benign
11	62148981	T	A	T62148981A	INCENP	NM_001040694.2(INCENP):c.2391+135T>A	noncoding	Benign
11	62149047	C	G	C62149047G	INCENP	NM_001040694.2(INCENP):c.2391+201C>G	noncoding	Benign
11	62149083	C	G	C62149083G	INCENP	NM_001040694.2(INCENP):c.2391+237C>G	noncoding	Benign
11	62149968	A	G	A62149968G	INCENP	NM_001040694.2(INCENP):c.2392-89A>G	noncoding	Benign
11	62150041	A	G	A62150041G	INCENP	NM_001040694.2(INCENP):c.2392-16A>G	noncoding	Benign
11	62150370	T	C	T62150370C	INCENP	NM_001040694.2(INCENP):c.2542+163T>C	noncoding	Benign
11	62151576	G	A	G62151576A	INCENP	NM_001040694.2(INCENP):c.2543-186G>A	noncoding	Benign
11	62152006	G	A	G62152006A	INCENP	NM_001040694.2(INCENP):c.*30G>A	noncoding	Benign
11	62152043	C	G	C62152043G	INCENP	NM_001040694.2(INCENP):c.*67C>G	noncoding	Benign
11	62152097	G	C	G62152097C	INCENP	NM_001040694.2(INCENP):c.*121G>C	noncoding	Benign
11	62338001	C	T	C62338001T	ASRGL1	NM_001083926.2(ASRGL1):c.24C>T:p.His8=	coding	Benign
11	62338074	G	A	G62338074A	ASRGL1	NM_001083926.2(ASRGL1):c.97G>A:p.Val33Met	coding	Benign
11	62338139	C	T	C62338139T	ASRGL1	NM_001083926.2(ASRGL1):c.162C>T:p.Ala54=	coding	Benign
11	62389136	C	T	C62389136T	ASRGL1	NM_001083926.2(ASRGL1):c.495C>T:p.Asn165=	coding	Benign
11	62391538	C	T	C62391538T	ASRGL1	NM_001083926.2(ASRGL1):c.627C>T:p.Ala209=	coding	Benign
11	62392110	G	A	G62392110A	ASRGL1	NM_001083926.2(ASRGL1):c.753G>A:p.Ser251=	coding	Benign
11	62392155	C	T	C62392155T	ASRGL1	NM_001083926.2(ASRGL1):c.798C>T:p.Ile266=	coding	Benign
11	62392224	G	A	G62392224A	ASRGL1	NM_001083926.2(ASRGL1):c.867G>A:p.Lys289=	coding	Benign
11	62518193	C	T	C62518193T	AHNAK	NM_001620.3(AHNAK):c.16224G>A:p.Leu5408=	coding	Benign
11	62613678	C	T	C62613678T	ROM1	NM_000327.4(ROM1):c.397C>T:p.Leu133=	coding	Benign/Likely_benign
11	62614372	C	T	C62614372T	ROM1	NM_000327.4(ROM1):c.705C>T:p.Ala235=	coding	Benign
11	62615990	C	T	C62615990T	B3GAT3	NM_012200.4(B3GAT3):c.910-191G>A	coding	Benign
11	62616744	A	T	A62616744T	B3GAT3	NM_012200.4(B3GAT3):c.671T>A:p.Leu224Gln	coding	Pathogenic
11	62617322	G	A	G62617322A	B3GAT3	NM_012200.4(B3GAT3):c.283C>T:p.Arg95Ter	coding	Pathogenic
11	62617397	T	C	T62617397C	B3GAT3	NM_012200.4(B3GAT3):c.258-50A>G	noncoding	Benign
11	62620509	G	A	G62620509A	B3GAT3	NM_012200.4(B3GAT3):c.245C>T:p.Pro82Leu	coding	Pathogenic
11	62621946	A	G	A62621946G	B3GAT3	NM_012200.4(B3GAT3):c.2T>C:p.Met1Thr	coding	Pathogenic
11	62621947	T	A	T62621947A	B3GAT3	NM_012200.4(B3GAT3):c.1A>T:p.Met1Leu	coding	Pathogenic/Likely_pathogenic
11	62622146	C	T	C62622146T	B3GAT3	Single_allele	noncoding	Benign
11	62625910	G	A	G62625910A	GANAB	NM_198334.3(GANAB):c.2740C>T:p.Arg914Cys	coding	Benign
11	62626154	G	A	G62626154A	GANAB	NM_198334.3(GANAB):c.2636C>T:p.Pro879Leu	coding	Benign
11	62626390	G	A	G62626390A	GANAB	NM_198334.3(GANAB):c.2569C>T:p.Arg857Cys	coding	Benign
11	62626443	G	A	G62626443A	GANAB	NM_198334.3(GANAB):c.2516C>T:p.Thr839Ile	coding	Pathogenic
11	62626973	G	A	G62626973A	GANAB	NM_198334.3(GANAB):c.2323-39C>T	noncoding	Benign
11	62627409	A	G	A62627409G	GANAB	NM_198334.3(GANAB):c.2181-56T>C	noncoding	Benign
11	62627589	G	A	G62627589A	GANAB	NM_198334.3(GANAB):c.2181-236C>T	noncoding	Benign
11	62628776	C	T	C62628776T	GANAB	NM_198334.3(GANAB):c.2173G>A:p.Val725Ile	coding	Benign/Likely_benign
11	62629607	G	A	G62629607A	GANAB	NM_198334.3(GANAB):c.1815C>T:p.Phe605=	coding	Benign
11	62629642	T	C	T62629642C	GANAB	NM_198334.3(GANAB):c.1780A>G:p.Met594Val	coding	Benign
11	62629705	C	G	C62629705G	GANAB	NM_198334.3(GANAB):c.1738-21G>C	noncoding	Benign
11	62630425	A	G	A62630425G	GANAB	NM_198334.3(GANAB):c.1467T>C:p.Tyr489=	coding	Benign/Likely_benign
11	62630583	G	A	G62630583A	GANAB	NM_198334.3(GANAB):c.1386+18C>T	noncoding	Benign
11	62631118	G	A	G62631118A	GANAB	NM_198334.3(GANAB):c.1062C>T:p.Arg354=	coding	Benign
11	62631296	C	T	C62631296T	GANAB	NM_198334.3(GANAB):c.997-113G>A	noncoding	Benign
11	62632544	T	C	T62632544C	GANAB	NM_198334.3(GANAB):c.996+21A>G	noncoding	Benign
11	62634148	C	T	C62634148T	GANAB	NM_198334.3(GANAB):c.561-634G>A	noncoding	Benign
11	62634244	A	G	A62634244G	GANAB	NM_198334.3(GANAB):c.560+577T>C	noncoding	Benign
11	62634891	G	A	G62634891A	GANAB	NM_198334.3(GANAB):c.490C>T:p.Arg164Ter	coding	Pathogenic
11	62634999	G	A	G62634999A	GANAB	NM_198334.3(GANAB):c.382C>T:p.Leu128Phe	coding	Benign
11	62638690	G	T	G62638690T	GANAB	NM_198334.3(GANAB):c.380+293C>A	noncoding	Benign
11	62638968	T	C	T62638968C	GANAB	NM_198334.3(GANAB):c.380+15A>G	noncoding	Benign/Likely_benign
11	62639387	G	A	G62639387A	GANAB	NM_198334.3(GANAB):c.224C>T:p.Thr75Met	coding	Pathogenic
11	62640006	C	T	C62640006T	GANAB	NM_198334.3(GANAB):c.39-275G>A	noncoding	Benign
11	62640011	G	A	G62640011A	GANAB	NM_198334.3(GANAB):c.39-280C>T	noncoding	Benign
11	62640012	G	A	G62640012A	GANAB	NM_198334.3(GANAB):c.39-281C>T	noncoding	Benign
11	62640062	T	C	T62640062C	GANAB	NM_198334.3(GANAB):c.39-331A>G	noncoding	Benign
11	62646545	G	A	G62646545A	GANAB	NM_198334.3(GANAB):c.38+17C>T	noncoding	Benign
11	62671374	G	A	G62671374A	UQCC3	NM_024099.5(LBHD1):c.-11+190C>T	noncoding	Benign
11	62690476	A	G	A62690476G	BSCL2	NM_001122955.4(BSCL2):c.1280T>C:p.Leu427Pro	coding	Benign/Likely_benign
11	62690592	C	T	C62690592T	BSCL2	NM_001122955.4(BSCL2):c.1234+20G>A	noncoding	Benign
11	62690687	G	A	G62690687A	BSCL2	NM_001122955.4(BSCL2):c.1159C>T:p.Gln387Ter	coding	Pathogenic
11	62690761	G	A	G62690761A	BSCL2	NM_001122955.4(BSCL2):c.1153+26C>T	noncoding	Benign
11	62692647	C	T	C62692647T	BSCL2	NM_001122955.4(BSCL2):c.765+16G>A	noncoding	Benign
11	62694731	T	A	T62694731A	BSCL2	NM_001122955.4(BSCL2):c.487-20A>T	noncoding	Benign
11	62694966	G	A	G62694966A	BSCL2	NM_001122955.4(BSCL2):c.487-255C>T	noncoding	Benign
11	62706076	C	T	C62706076T	BSCL2	NM_001122955.4(BSCL2):c.88-459G>A	noncoding	Benign
11	62707367	A	G	A62707367G	BSCL2	NM_001122955.4(BSCL2):c.-172T>C	noncoding	Benign
11	62707486	C	T	C62707486T	BSCL2	NM_001122955.3(BSCL2):c.-291G>A	noncoding	Pathogenic
11	62707781	G	C	G62707781C	BSCL2	NM_012202.5(GNG3):c.-136G>C	noncoding	Benign
11	62707977	C	T	C62707977T	BSCL2	NM_012202.5(GNG3):c.-2+62C>T	noncoding	Benign
11	62995792	T	A	T62995792A	SLC22A8	NM_004254.4(SLC22A8):c.913A>T:p.Ile305Phe	coding	Benign
11	63629422	A	G	A63629422G	ATL3	NM_015459.5(ATL3):c.1540-17T>C	noncoding	Benign
11	63631678	A	G	A63631678G	ATL3	NM_015459.5(ATL3):c.1108-207T>C	noncoding	Benign
11	63631703	C	T	C63631703T	ATL3	NM_015459.5(ATL3):c.1108-232G>A	noncoding	Benign
11	63633021	C	T	C63633021T	ATL3	NM_015459.5(ATL3):c.1107+5G>A	noncoding	Benign
11	63635604	C	T	C63635604T	ATL3	NM_015459.5(ATL3):c.979-14G>A	noncoding	Benign
11	63636284	A	G	A63636284G	ATL3	NM_015459.5(ATL3):c.901T>C:p.Leu301=	coding	Benign
11	63643513	G	C	G63643513C	ATL3	NM_015459.5(ATL3):c.712-18C>G	noncoding	Benign
11	63644279	G	A	G63644279A	ATL3	NM_015459.5(ATL3):c.619-18C>T	noncoding	Benign
11	63646309	C	T	C63646309T	ATL3	NM_015459.5(ATL3):c.618+198G>A	noncoding	Benign
11	63646549	G	A	G63646549A	ATL3	NM_015459.5(ATL3):c.576C>T:p.Tyr192=	coding	Benign
11	63651997	A	G	A63651997G	ATL3	NM_015459.5(ATL3):c.511-11T>C	noncoding	Benign/Likely_benign
11	63652408	C	T	C63652408T	ATL3	NM_015459.5(ATL3):c.510+63G>A	noncoding	Benign
11	63658793	C	T	C63658793T	ATL3	NM_015459.5(ATL3):c.373G>A:p.Val125Ile	coding	Benign/Likely_benign
11	63671035	A	G	A63671035G	ATL3	NM_015459.5(ATL3):c.46+255T>C	noncoding	Benign
11	63671364	C	T	C63671364T	ATL3	NM_015459.5(ATL3):c.-29G>A	noncoding	Benign
11	63671500	G	A	G63671500A	ATL3	NM_015459.4(ATL3):c.-165C>T	noncoding	Benign
11	63671930	G	A	G63671930A	ATL3	NM_015459.2(ATL3):c.-215C>T	noncoding	Benign
11	63976284	C	A	C63976284A	COX8A	NM_004074.3(COX8A):c.174C>A:p.Ile58=	coding	Benign
11	64116324	G	A	G64116324A	FLRT1	NM_013280.5(FLRT1):c.57G>A:p.Thr19=	coding	Benign
11	64116513	T	C	T64116513C	FLRT1	NM_013280.5(FLRT1):c.246T>C:p.Asp82=	coding	Benign
11	64116555	C	T	C64116555T	FLRT1	NM_013280.5(FLRT1):c.288C>T:p.Ala96=	coding	Benign
11	64116981	C	T	C64116981T	FLRT1	NM_013280.5(FLRT1):c.714C>T:p.Arg238=	coding	Benign
11	64117002	C	T	C64117002T	FLRT1	NM_013280.5(FLRT1):c.735C>T:p.Ser245=	coding	Benign
11	64117437	G	T	G64117437T	FLRT1	NM_013280.5(FLRT1):c.1170G>T:p.Ala390=	coding	Benign
11	64117815	C	T	C64117815T	FLRT1	NM_013280.5(FLRT1):c.1548C>T:p.Tyr516=	coding	Benign
11	64117833	C	T	C64117833T	FLRT1	NM_013280.5(FLRT1):c.1566C>T:p.Pro522=	coding	Benign
11	64118145	G	A	G64118145A	FLRT1	NM_013280.5(FLRT1):c.1878G>A:p.Pro626=	coding	Benign
11	64118160	A	G	A64118160G	FLRT1	NM_013280.5(FLRT1):c.1893A>G:p.Glu631=	coding	Benign
11	64118232	C	T	C64118232T	FLRT1	NM_013280.5(FLRT1):c.1965C>T:p.Tyr655=	coding	Benign
11	64210475	C	T	C64210475T	FERMT3	NM_031471.6(FERMT3):c.161-136C>T	noncoding	Benign
11	64210600	G	A	G64210600A	FERMT3	NM_031471.6(FERMT3):c.161-11G>A	noncoding	Benign
11	64211690	C	T	C64211690T	FERMT3	NM_031471.6(FERMT3):c.729C>T:p.Ala243=	coding	Benign
11	64219520	C	T	C64219520T	FERMT3	NM_031471.6(FERMT3):c.895-4C>T	noncoding	Benign
11	64219672	C	T	C64219672T	FERMT3	NM_031471.6(FERMT3):c.1029+14C>T	noncoding	Benign
11	64219728	G	C	G64219728C	FERMT3	NM_031471.6(FERMT3):c.1030-12G>C	noncoding	Benign
11	64220169	A	T	A64220169T	FERMT3	NM_031471.6(FERMT3):c.1205-51A>T	noncoding	Benign
11	64220554	G	A	G64220554A	FERMT3	NM_031471.6(FERMT3):c.1430G>A:p.Arg477His	coding	Benign
11	64220573	G	A	G64220573A	FERMT3	NM_031471.6(FERMT3):c.1449G>A:p.Pro483=	coding	Benign
11	64220682	G	A	G64220682A	FERMT3	NM_031471.6(FERMT3):c.1545+13G>A	noncoding	Benign
11	64220727	C	T	C64220727T	FERMT3	NM_031471.6(FERMT3):c.1545+58C>T	noncoding	Benign
11	64220868	G	A	G64220868A	FERMT3	NM_031471.6(FERMT3):c.1546-148G>A	noncoding	Benign
11	64222830	G	A	G64222830A	FERMT3	NM_031471.6(FERMT3):c.1671-218G>A	noncoding	Benign
11	64223033	C	G	C64223033G	FERMT3	NM_031471.6(FERMT3):c.1671-15C>G	noncoding	Benign
11	64223034	T	C	T64223034C	FERMT3	NM_031471.6(FERMT3):c.1671-14T>C	noncoding	Benign
11	64223046	A	G	A64223046G	FERMT3	NM_031471.6(FERMT3):c.1671-2A>G	noncoding	Pathogenic
11	64223414	G	C	G64223414C	FERMT3	NM_031471.6(FERMT3):c.1914G>C:p.Ser638=	coding	Benign
11	64263769	C	T	C64263769T	PLCB3	NM_000932.5(PLCB3):c.2534C>T:p.Ser845Leu	coding	Benign
11	64264092	G	T	G64264092T	PLCB3	NM_000932.5(PLCB3):c.2632G>T:p.Ala878Ser	coding	Pathogenic
11	64293042	C	T	C64293042T	KCNK4	NM_033310.3(KCNK4):c.24C>T:p.Ala8=	coding	Benign/Likely_benign
11	64293171	G	C	G64293171C	KCNK4	NM_033310.3(KCNK4):c.153G>C:p.Pro51=	coding	Benign
11	64297107	C	T	C64297107T	KCNK4	NM_033310.3(KCNK4):c.314-12C>T	noncoding	Benign
11	64297129	T	C	T64297129C	KCNK4	NM_033310.3(KCNK4):c.324T>C:p.Asn108=	coding	Benign
11	64297484	G	A	G64297484A	KCNK4	NM_033310.3(KCNK4):c.492G>A:p.Pro164=	coding	Benign
11	64297608	G	A	G64297608A	KCNK4	NM_033310.3(KCNK4):c.616G>A:p.Val206Ile	coding	Benign
11	64298186	C	T	C64298186T	KCNK4	NM_033310.3(KCNK4):c.738C>T:p.Phe246=	coding	Benign/Likely_benign
11	64298262	G	A	G64298262A	KCNK4	NM_033310.3(KCNK4):c.801+13G>A	noncoding	Benign
11	64299387	G	A	G64299387A	KCNK4	NM_033310.3(KCNK4):c.843G>A:p.Thr281=	coding	Benign
11	64299527	C	T	C64299527T	KCNK4	NM_033310.3(KCNK4):c.983C>T:p.Pro328Leu	coding	Benign
11	64299638	C	T	C64299638T	KCNK4	NM_033310.3(KCNK4):c.1094C>T:p.Pro365Leu	coding	Benign
11	64299694	G	A	G64299694A	KCNK4	NM_033310.3(KCNK4):c.1150G>A:p.Gly384Arg	coding	Benign
11	64299699	T	G	T64299699G	KCNK4	NM_033310.3(KCNK4):c.1155T>G:p.Arg385=	coding	Benign
11	64360272	A	G	A64360272G	RPS6KA4	NM_003942.3(RPS6KA4):c.237A>G:p.Gln79=	coding	Benign
11	64590769	A	T	A64590769T	SLC22A12	Single_allele	noncoding	Benign
11	64590793	C	T	C64590793T	SLC22A12	Single_allele	noncoding	Benign
11	64591323	C	T	C64591323T	SLC22A12	NM_144585.4(SLC22A12):c.-234C>T	noncoding	Benign/Likely_benign
11	64591679	G	A	G64591679A	SLC22A12	NM_144585.4(SLC22A12):c.123G>A:p.Ser41=	coding	Benign/Likely_benign
11	64592155	C	T	C64592155T	SLC22A12	NM_144585.4(SLC22A12):c.402+197C>T	noncoding	Benign
11	64592542	T	C	T64592542C	SLC22A12	NM_144585.4(SLC22A12):c.403-237T>C	noncoding	Benign
11	64592788	G	C	G64592788C	SLC22A12	NM_144585.4(SLC22A12):c.412G>C:p.Val138Leu	coding	Pathogenic
11	64592878	G	A	G64592878A	SLC22A12	NM_144585.4(SLC22A12):c.502G>A:p.Asp168Asn	coding	Pathogenic
11	64593151	G	A	G64593151A	SLC22A12	NM_144585.4(SLC22A12):c.507-254G>A	noncoding	Benign
11	64593157	C	T	C64593157T	SLC22A12	NM_144585.4(SLC22A12):c.507-248C>T	noncoding	Benign
11	64593158	G	A	G64593158A	SLC22A12	NM_144585.4(SLC22A12):c.507-247G>A	noncoding	Benign
11	64593233	C	T	C64593233T	SLC22A12	NM_144585.4(SLC22A12):c.507-172C>T	noncoding	Benign
11	64593579	C	T	C64593579T	SLC22A12	NM_144585.4(SLC22A12):c.661+20C>T	noncoding	Benign
11	64593912	G	T	G64593912T	SLC22A12	NM_144585.4(SLC22A12):c.830+109G>T	noncoding	Benign
11	64598196	C	A	C64598196A	SLC22A12	NM_144585.4(SLC22A12):c.831-320C>A	noncoding	Benign
11	64598324	C	A	C64598324A	SLC22A12	NM_144585.4(SLC22A12):c.831-192C>A	noncoding	Benign
11	64598471	T	C	T64598471C	SLC22A12	NM_144585.4(SLC22A12):c.831-45T>C	noncoding	Benign
11	64599057	G	C	G64599057C	SLC22A12	NM_144585.4(SLC22A12):c.1070+134G>C	noncoding	Benign
11	64599147	A	G	A64599147G	SLC22A12	NM_144585.4(SLC22A12):c.1070+224A>G	noncoding	Benign
11	64599578	A	G	A64599578G	SLC22A12	NM_144585.4(SLC22A12):c.1071-98A>G	noncoding	Benign
11	64599642	A	C	A64599642C	SLC22A12	NM_144585.4(SLC22A12):c.1071-34A>C	noncoding	Benign
11	64599643	C	T	C64599643T	SLC22A12	NM_144585.4(SLC22A12):c.1071-33C>T	noncoding	Benign
11	64599955	C	G	C64599955G	SLC22A12	NM_144585.4(SLC22A12):c.1285+65C>G	noncoding	Benign
11	64600117	A	G	A64600117G	SLC22A12	NM_144585.4(SLC22A12):c.1285+227A>G	noncoding	Benign
11	64600179	G	A	G64600179A	SLC22A12	NM_144585.4(SLC22A12):c.1286-188G>A	noncoding	Benign
11	64600264	A	G	A64600264G	SLC22A12	NM_144585.4(SLC22A12):c.1286-103A>G	noncoding	Benign
11	64600768	C	T	C64600768T	SLC22A12	NM_144585.4(SLC22A12):c.1428C>T:p.Ala476=	coding	Benign
11	64600956	C	T	C64600956T	SLC22A12	NM_144585.4(SLC22A12):c.1598+18C>T	noncoding	Benign
11	64601198	G	C	G64601198C	SLC22A12	NM_144585.4(SLC22A12):c.1598+260G>C	noncoding	Benign
11	64601471	G	A	G64601471A	SLC22A12	NM_144585.4(SLC22A12):c.1599-17G>A	noncoding	Benign
11	64608285	C	T	C64608285T	NRXN2	NM_015080.4(NRXN2):c.4253-203G>A	noncoding	Benign
11	64620460	G	A	G64620460A	NRXN2	NM_015080.4(NRXN2):c.4174-88C>T	noncoding	Benign
11	64635223	T	C	T64635223C	NRXN2	NM_015080.4(NRXN2):c.3585+48A>G	noncoding	Benign
11	64648295	G	A	G64648295A	NRXN2	NM_015080.4(NRXN2):c.3327C>T:p.Gly1109=	coding	Benign
11	64648431	C	T	C64648431T	NRXN2	NM_015080.4(NRXN2):c.3284-93G>A	noncoding	Benign
11	64648559	C	A	C64648559A	NRXN2	NM_015080.4(NRXN2):c.3283+175G>T	noncoding	Benign
11	64650787	T	C	T64650787C	NRXN2	NM_015080.4(NRXN2):c.2919-149A>G	noncoding	Benign
11	64650833	G	A	G64650833A	NRXN2	NM_015080.4(NRXN2):c.2919-195C>T	noncoding	Benign
11	64651428	G	A	G64651428A	NRXN2	NM_015080.4(NRXN2):c.2745C>T:p.Ile915=	coding	Benign
11	64651745	T	G	T64651745G	NRXN2	NM_015080.4(NRXN2):c.2537-109A>C	noncoding	Benign
11	64651746	T	C	T64651746C	NRXN2	NM_015080.4(NRXN2):c.2537-110A>G	noncoding	Benign
11	64653580	C	T	C64653580T	NRXN2	NM_015080.4(NRXN2):c.2416+116G>A	noncoding	Benign
11	64660201	G	A	G64660201A	NRXN2	NM_015080.4(NRXN2):c.2389+131C>T	noncoding	Benign
11	64667876	C	T	C64667876T	NRXN2	NM_015080.4(NRXN2):c.1360-188G>A	noncoding	Benign
11	64668434	C	T	C64668434T	NRXN2	NM_015080.4(NRXN2):c.1359+9G>A	noncoding	Benign
11	64693200	A	G	A64693200G	NRXN2	NM_015080.4(NRXN2):c.749-324T>C	noncoding	Benign
11	64697810	C	T	C64697810T	NRXN2	NM_015080.4(NRXN2):c.731-18G>A	noncoding	Benign
11	64697931	T	C	T64697931C	NRXN2	NM_015080.4(NRXN2):c.731-139A>G	noncoding	Benign
11	64698042	C	T	C64698042T	NRXN2	NM_015080.4(NRXN2):c.731-250G>A	noncoding	Benign
11	64712836	C	T	C64712836T	NRXN2	NM_015080.4(NRXN2):c.730+134G>A	noncoding	Benign
11	64712838	C	G	C64712838G	NRXN2	NM_015080.4(NRXN2):c.730+132G>C	noncoding	Benign
11	64713169	G	A	G64713169A	NRXN2	NM_015080.4(NRXN2):c.531C>T:p.Gly177=	coding	Benign
11	64713458	A	T	A64713458T	NRXN2	NM_015080.4(NRXN2):c.242T>A:p.Leu81Gln	coding	Benign
11	64714107	G	A	G64714107A	NRXN2	NM_015080.4(NRXN2):c.-244-164C>T	noncoding	Benign
11	64728680	G	A	G64728680A	RASGRP2	NM_001098671.2(RASGRP2):c.1771+183C>T	noncoding	Benign
11	64729115	T	C	T64729115C	RASGRP2	NM_001098671.2(RASGRP2):c.1592-73A>G	noncoding	Benign
11	64729272	C	T	C64729272T	RASGRP2	NM_001098671.2(RASGRP2):c.1592-230G>A	noncoding	Benign
11	64729525	C	T	C64729525T	RASGRP2	NM_001098671.2(RASGRP2):c.1591+237G>A	noncoding	Benign
11	64729689	C	T	C64729689T	RASGRP2	NM_001098671.2(RASGRP2):c.1591+73G>A	noncoding	Benign
11	64729717	A	C	A64729717C	RASGRP2	NM_001098671.2(RASGRP2):c.1591+45T>G	noncoding	Benign
11	64735282	T	G	T64735282G	RASGRP2	NM_001098671.2(RASGRP2):c.1297-55A>C	noncoding	Benign
11	64735707	A	G	A64735707G	RASGRP2	NM_001098671.2(RASGRP2):c.1174-43T>C	noncoding	Benign
11	64735934	G	A	G64735934A	RASGRP2	NM_001098671.2(RASGRP2):c.1142C>T:p.Ser381Phe	coding	Pathogenic
11	64736024	A	G	A64736024G	RASGRP2	NM_001098671.2(RASGRP2):c.1096-44T>C	noncoding	Benign
11	64739467	G	A	G64739467A	RASGRP2	NM_001098671.2(RASGRP2):c.706C>T:p.Gln236Ter	coding	Pathogenic
11	64739843	T	C	T64739843C	RASGRP2	NM_001098671.2(RASGRP2):c.523-34A>G	noncoding	Benign
11	64740005	G	A	G64740005A	RASGRP2	NM_001098671.2(RASGRP2):c.522+8C>T	noncoding	Benign
11	64740208	A	C	A64740208C	RASGRP2	NM_001098671.2(RASGRP2):c.372-45T>G	noncoding	Benign
11	64740327	G	C	G64740327C	RASGRP2	NM_001098671.2(RASGRP2):c.372-164C>G	noncoding	Benign
11	64740982	G	A	G64740982A	RASGRP2	NM_001098671.2(RASGRP2):c.337C>T:p.Arg113Ter	coding	Pathogenic
11	64741767	C	T	C64741767T	RASGRP2	NM_001098671.2(RASGRP2):c.176+243G>A	noncoding	Benign
11	64741966	T	C	T64741966C	RASGRP2	NM_001098671.2(RASGRP2):c.176+44A>G	noncoding	Benign
11	64742778	C	T	C64742778T	RASGRP2	NM_001098671.2(RASGRP2):c.73+16G>A	noncoding	Benign
11	64746948	G	T	G64746948T	PYGM	NM_005609.4(PYGM):c.2352C>A:p.Cys784Ter	coding	Pathogenic/Likely_pathogenic
11	64750470	C	T	C64750470T	PYGM	NM_005609.4(PYGM):c.2083G>A:p.Gly695Arg	coding	Pathogenic
11	64751650	T	A	T64751650A	PYGM	NM_005609.4(PYGM):c.1774A>T:p.Lys592Ter	coding	Pathogenic
11	64751932	A	G	A64751932G	PYGM	NM_005609.4(PYGM):c.1760T>C:p.Leu587Pro	coding	Pathogenic
11	64752516	C	T	C64752516T	PYGM	NM_005609.4(PYGM):c.1519-12G>A	noncoding	Benign
11	64753518	C	T	C64753518T	PYGM	NM_005609.4(PYGM):c.1403+1G>A	noncoding	Pathogenic
11	64753698	C	T	C64753698T	PYGM	NM_005609.4(PYGM):c.1240-16G>A	noncoding	Benign/Likely_benign
11	64753928	A	G	A64753928G	PYGM	NM_005609.4(PYGM):c.1190T>C:p.Leu397Pro	coding	Pathogenic/Likely_pathogenic
11	64753999	A	T	A64753999T	PYGM	NM_005609.4(PYGM):c.1119T>A:p.Cys373Ter	coding	Pathogenic
11	64754336	G	A	G64754336A	PYGM	NM_005609.4(PYGM):c.1009C>T:p.Gln337Ter	coding	Pathogenic
11	64754594	A	G	A64754594G	PYGM	NM_005609.4(PYGM):c.999+99T>C	noncoding	Benign
11	64755485	C	T	C64755485T	PYGM	NM_005609.4(PYGM):c.734G>A:p.Trp245Ter	coding	Pathogenic
11	64755538	G	T	G64755538T	PYGM	NM_005609.4(PYGM):c.681C>A:p.Tyr227Ter	coding	Pathogenic
11	64757870	C	T	C64757870T	PYGM	NM_005609.4(PYGM):c.569G>A:p.Trp190Ter	coding	Pathogenic
11	64757890	C	T	C64757890T	PYGM	NM_005609.4(PYGM):c.549G>A:p.Trp183Ter	coding	Pathogenic
11	64757992	C	T	C64757992T	PYGM	NM_005609.4(PYGM):c.529-82G>A	noncoding	Benign
11	64758172	G	T	G64758172T	PYGM	NM_005609.4(PYGM):c.528+74C>A	noncoding	Benign
11	64758420	C	T	C64758420T	PYGM	NM_005609.4(PYGM):c.424+17G>A	noncoding	Benign/Likely_benign
11	64758696	G	C	G64758696C	PYGM	NM_005609.4(PYGM):c.252C>G:p.Tyr84Ter	coding	Pathogenic/Likely_pathogenic
11	64759674	G	T	G64759674T	PYGM	NM_005609.4(PYGM):c.225C>A:p.Tyr75Ter	coding	Pathogenic
11	64804492	T	A	T64804492A	MEN1	NM_001370259.2(MEN1):c.1675A>T:p.Lys559Ter	coding	Pathogenic
11	64804649	G	A	G64804649A	MEN1	NM_001370259.2(MEN1):c.1518C>T:p.Thr506=	coding	Benign/Likely_benign
11	64804711	C	A	C64804711A	MEN1	NM_001370259.2(MEN1):c.1456G>T:p.Glu486Ter	coding	Pathogenic
11	64804750	C	A	C64804750A	MEN1	NM_001370259.2(MEN1):c.1417G>T:p.Glu473Ter	coding	Pathogenic
11	64804780	C	A	C64804780A	MEN1	NM_001370259.2(MEN1):c.1387G>T:p.Glu463Ter	coding	Pathogenic
11	64804813	G	A	G64804813A	MEN1	NM_001370259.2(MEN1):c.1354C>T:p.Arg452Trp	coding	Pathogenic/Likely_pathogenic
11	64804818	T	C	T64804818C	MEN1	NM_001370259.2(MEN1):c.1351-2A>G	noncoding	Pathogenic
11	64804931	C	G	C64804931G	MEN1	NM_001370259.2(MEN1):c.1350+103G>C	noncoding	Benign
11	64805111	C	A	C64805111A	MEN1	NM_001370259.2(MEN1):c.1273G>T:p.Glu425Ter	coding	Pathogenic
11	64805637	G	A	G64805637A	MEN1	NM_001370259.2(MEN1):c.1183C>T:p.Gln395Ter	coding	Pathogenic
11	64805688	C	A	C64805688A	MEN1	NM_001370259.2(MEN1):c.1132G>T:p.Glu378Ter	coding	Pathogenic
11	64805761	G	C	G64805761C	MEN1	NM_001370259.2(MEN1):c.1059C>G:p.Tyr353Ter	coding	Pathogenic
11	64805768	T	C	T64805768C	MEN1	NM_001370259.2(MEN1):c.1052A>G:p.Tyr351Cys	coding	Pathogenic/Likely_pathogenic
11	64805835	A	T	A64805835T	MEN1	NM_001370259.2(MEN1):c.1050-65T>A	noncoding	Benign
11	64805841	C	T	C64805841T	MEN1	NM_001370259.2(MEN1):c.1050-71G>A	noncoding	Benign
11	64806117	T	C	T64806117C	MEN1	NM_001370259.2(MEN1):c.1049+115A>G	noncoding	Benign
11	64806230	A	C	A64806230C	MEN1	NM_001370259.2(MEN1):c.1049+2T>G	noncoding	Pathogenic
11	64806236	G	A	G64806236A	MEN1	NM_001370259.2(MEN1):c.1045C>T:p.Gln349Ter	coding	Pathogenic
11	64806258	C	T	C64806258T	MEN1	NM_001370259.2(MEN1):c.1023G>A:p.Trp341Ter	coding	Pathogenic
11	64806271	G	T	G64806271T	MEN1	NM_001370259.2(MEN1):c.1010C>A:p.Ala337Asp	coding	Pathogenic
11	64806300	G	C	G64806300C	MEN1	NM_001370259.2(MEN1):c.981C>G:p.Tyr327Ter	coding	Pathogenic
11	64806318	G	T	G64806318T	MEN1	NM_001370259.2(MEN1):c.963C>A:p.Tyr321Ter	coding	Pathogenic
11	64806728	G	A	G64806728A	MEN1	NM_001370259.2(MEN1):c.912+283C>T	noncoding	Benign
11	64807064	C	A	C64807064A	MEN1	NM_001370259.2(MEN1):c.859G>T:p.Glu287Ter	coding	Pathogenic
11	64807080	C	G	C64807080G	MEN1	NM_001370259.2(MEN1):c.843G>C:p.Gly281=	coding	Benign/Likely_benign
11	64807209	C	T	C64807209T	MEN1	NM_001370259.2(MEN1):c.794G>A:p.Trp265Ter	coding	Pathogenic
11	64807645	A	T	A64807645T	MEN1	NM_001370259.2(MEN1):c.690T>A:p.Cys230Ter	coding	Pathogenic
11	64807682	T	G	T64807682G	MEN1	NM_001370259.2(MEN1):c.655-2A>C	noncoding	Pathogenic
11	64807809	G	A	G64807809A	MEN1	NM_001370259.2(MEN1):c.654+82C>T	noncoding	Benign
11	64807996	C	G	C64807996G	MEN1	NM_001370259.2(MEN1):c.549G>C:p.Trp183Cys	coding	Pathogenic
11	64808019	C	G	C64808019G	MEN1	NM_001370259.2(MEN1):c.526G>C:p.Ala176Pro	coding	Pathogenic/Likely_pathogenic
11	64808078	C	T	C64808078T	MEN1	NM_001370259.2(MEN1):c.467G>A:p.Gly156Asp	coding	Pathogenic/Likely_pathogenic
11	64808079	C	A	C64808079A	MEN1	NM_001370259.2(MEN1):c.466G>T:p.Gly156Cys	coding	Pathogenic/Likely_pathogenic
11	64809482	C	T	C64809482T	MEN1	NM_001370259.2(MEN1):c.445+183G>A	noncoding	Benign
11	64809733	C	T	C64809733T	MEN1	NM_001370259.2(MEN1):c.377G>A:p.Trp126Ter	coding	Pathogenic
11	64809771	G	A	G64809771A	MEN1	NM_001370259.2(MEN1):c.339C>T:p.Ser113=	coding	Benign/Likely_benign
11	64809975	C	G	C64809975G	MEN1	NM_001370259.2(MEN1):c.135G>C:p.Glu45Asp	coding	Pathogenic/Likely_pathogenic
11	64809977	C	T	C64809977T	MEN1	NM_001370259.2(MEN1):c.133G>A:p.Glu45Lys	coding	Pathogenic
11	64809997	G	A	G64809997A	MEN1	NM_001370259.2(MEN1):c.113C>T:p.Ser38Phe	coding	Pathogenic/Likely_pathogenic
11	64810034	C	T	C64810034T	MEN1	NM_001370259.2(MEN1):c.76G>A:p.Glu26Lys	coding	Pathogenic/Likely_pathogenic
11	64810045	A	C	A64810045C	MEN1	NM_001370259.2(MEN1):c.65T>G:p.Leu22Arg	coding	Pathogenic/Likely_pathogenic
11	64810091	G	A	G64810091A	MEN1	NM_001370259.2(MEN1):c.19C>T:p.Gln7Ter	coding	Pathogenic
11	64810092	G	A	G64810092A	MEN1	NM_001370259.2(MEN1):c.18C>T:p.Ala6=	coding	Benign/Likely_benign
11	64810108	A	C	A64810108C	MEN1	NM_001370259.2(MEN1):c.2T>G:p.Met1Arg	coding	Pathogenic
11	64810108	A	G	A64810108G	MEN1	NM_001370259.2(MEN1):c.2T>C:p.Met1Thr	coding	Pathogenic
11	64810833	G	A	G64810833A	MEN1	NM_130803.3(MEN1):c.-43C>T	noncoding	Benign
11	64925917	G	A	G64925917A	PPP2R5B	NM_006244.4(PPP2R5B):c.183G>A:p.Pro61=	coding	Benign
11	64927888	G	A	G64927888A	PPP2R5B	NM_006244.4(PPP2R5B):c.483G>A:p.Ser161=	coding	Benign
11	64930306	C	T	C64930306T	PPP2R5B	NM_006244.4(PPP2R5B):c.723-16C>T	noncoding	Benign
11	64930478	C	T	C64930478T	PPP2R5B	NM_006244.4(PPP2R5B):c.783-3C>T	noncoding	Benign
11	64931498	C	T	C64931498T	PPP2R5B	NM_006244.4(PPP2R5B):c.945+9C>T	noncoding	Benign
11	64931570	G	A	G64931570A	PPP2R5B	NM_006244.4(PPP2R5B):c.957G>A:p.Gly319=	coding	Benign
11	64932911	C	T	C64932911T	PPP2R5B	NM_006244.4(PPP2R5B):c.1244+19C>T	noncoding	Benign
11	64933713	C	A	C64933713A	PPP2R5B	NM_006244.4(PPP2R5B):c.1363C>A:p.Gln455Lys	coding	Benign
11	64933823	C	T	C64933823T	PPP2R5B	NM_006244.4(PPP2R5B):c.1473C>T:p.Ala491=	coding	Benign
11	65108918	C	T	C65108918T	VPS51	NM_013265.4(VPS51):c.1443+4C>T	noncoding	Benign
11	65109268	C	T	C65109268T	VPS51	NM_013265.4(VPS51):c.1444-12C>T	noncoding	Benign
11	65182955	G	A	G65182955A	CAPN1	NM_005186.4(CAPN1):c.254G>A:p.Trp85Ter	coding	Pathogenic
11	65182970	T	C	T65182970C	CAPN1	NM_005186.4(CAPN1):c.267+2T>C	noncoding	Pathogenic
11	65183001	A	G	A65183001G	CAPN1	NM_005186.4(CAPN1):c.267+33A>G	noncoding	Benign
11	65183372	A	T	A65183372T	CAPN1	NM_005186.4(CAPN1):c.338-102A>T	noncoding	Benign
11	65183499	C	T	C65183499T	CAPN1	NM_005186.4(CAPN1):c.363C>T:p.Ile121=	coding	Benign
11	65185912	C	A	C65185912A	CAPN1	NM_005186.4(CAPN1):c.457-5C>A	noncoding	Benign
11	65186202	G	A	G65186202A	CAPN1	NM_005186.4(CAPN1):c.623G>A:p.Gly208Asp	coding	Pathogenic
11	65186250	G	A	G65186250A	CAPN1	NM_005186.4(CAPN1):c.671G>A:p.Trp224Ter	coding	Pathogenic
11	65186356	C	T	C65186356T	CAPN1	NM_005186.4(CAPN1):c.759+18C>T	noncoding	Benign
11	65187223	C	T	C65187223T	CAPN1	NM_005186.4(CAPN1):c.768C>T:p.Ser256=	coding	Benign
11	65187299	G	C	G65187299C	CAPN1	NM_005186.4(CAPN1):c.843+1G>C	coding	Pathogenic
11	65187332	G	A	G65187332A	CAPN1	NM_005186.4(CAPN1):c.843+34G>A	noncoding	Benign
11	65188586	G	A	G65188586A	CAPN1	NM_005186.4(CAPN1):c.1005G>A:p.Trp335Ter	coding	Pathogenic/Likely_pathogenic
11	65188591	C	A	C65188591A	CAPN1	NM_005186.4(CAPN1):c.1010C>A:p.Ser337Ter	coding	Pathogenic
11	65188734	C	T	C65188734T	CAPN1	NM_005186.4(CAPN1):c.1153C>T:p.Arg385Ter	coding	Pathogenic/Likely_pathogenic
11	65188747	G	A	G65188747A	CAPN1	NM_005186.4(CAPN1):c.1165+1G>A	coding	Pathogenic
11	65188898	A	G	A65188898G	CAPN1	NM_005186.4(CAPN1):c.1165+152A>G	noncoding	Benign
11	65204815	G	C	G65204815C	CAPN1	NM_005186.4(CAPN1):c.1298G>C:p.Arg433Pro	coding	Benign
11	65204858	G	C	G65204858C	CAPN1	NM_005186.4(CAPN1):c.1341G>C:p.Glu447Asp	coding	Pathogenic
11	65204883	A	T	A65204883T	CAPN1	NM_005186.4(CAPN1):c.1341+25A>T	noncoding	Benign
11	65204993	C	G	C65204993G	CAPN1	NM_005186.4(CAPN1):c.1341+135C>G	noncoding	Benign
11	65206301	G	A	G65206301A	CAPN1	NM_005186.4(CAPN1):c.1354-162G>A	noncoding	Benign
11	65206824	G	A	G65206824A	CAPN1	NM_005186.4(CAPN1):c.1605+5G>A	noncoding	Pathogenic/Likely_pathogenic
11	65206971	C	T	C65206971T	CAPN1	NM_005186.4(CAPN1):c.1605+152C>T	noncoding	Benign
11	65208201	C	T	C65208201T	CAPN1	NM_005186.4(CAPN1):c.1672-4C>T	noncoding	Benign
11	65208274	C	T	C65208274T	CAPN1	NM_005186.4(CAPN1):c.1729+12C>T	noncoding	Benign
11	65209688	G	A	G65209688A	CAPN1	NM_005186.4(CAPN1):c.1795-161G>A	noncoding	Benign
11	65209953	C	T	C65209953T	CAPN1	NM_005186.4(CAPN1):c.1863+36C>T	noncoding	Benign
11	65210007	C	T	C65210007T	CAPN1	NM_005186.4(CAPN1):c.1864-11C>T	noncoding	Benign
11	65210173	C	T	C65210173T	CAPN1	NM_005186.4(CAPN1):c.1942+77C>T	noncoding	Benign
11	65210312	C	T	C65210312T	CAPN1	NM_005186.4(CAPN1):c.1943-24C>T	noncoding	Benign
11	65210362	G	T	G65210362T	CAPN1	NM_005186.4(CAPN1):c.1969G>T:p.Glu657Ter	coding	Pathogenic/Likely_pathogenic
11	65210466	A	G	A65210466G	CAPN1	NM_005186.4(CAPN1):c.2059+14A>G	noncoding	Benign
11	65211245	C	G	C65211245G	CAPN1	NM_005186.4(CAPN1):c.2119-15C>G	noncoding	Benign
11	65333844	C	G	C65333844G	DPF2	Single_allele	noncoding	Benign
11	65333907	T	C	T65333907C	DPF2	NM_006268.5(DPF2):c.21T>C:p.Asn7=	coding	Benign
11	65340442	C	T	C65340442T	DPF2	NM_006268.5(DPF2):c.90C>T:p.Arg30=	coding	Benign
11	65341076	A	G	A65341076G	DPF2	NM_006268.5(DPF2):c.301+3A>G	noncoding	Benign
11	65341391	G	A	G65341391A	DPF2	NM_006268.5(DPF2):c.302-8G>A	noncoding	Benign
11	65341762	A	C	A65341762C	DPF2	NM_006268.5(DPF2):c.465+200A>C	noncoding	Benign
11	65345988	G	T	G65345988T	DPF2	NM_006268.5(DPF2):c.834G>T:p.Gly278=	coding	Benign
11	65348877	G	A	G65348877A	DPF2	NM_006268.5(DPF2):c.1045G>A:p.Asp349Asn	coding	Pathogenic
11	65348898	T	G	T65348898G	DPF2	NM_006268.5(DPF2):c.1066T>G:p.Cys356Gly	coding	Pathogenic
11	65349020	C	T	C65349020T	DPF2	NM_006268.5(DPF2):c.1099+89C>T	noncoding	Benign
11	65351500	T	C	T65351500C	DPF2	NM_006268.5(DPF2):c.1100-183T>C	noncoding	Benign
11	65351526	C	T	C65351526T	DPF2	NM_006268.5(DPF2):c.1100-157C>T	noncoding	Benign
11	65526199	C	T	C65526199T	SCYL1	NM_020680.4(SCYL1):c.451C>T:p.Arg151Ter	coding	Pathogenic
11	65538885	G	A	G65538885A	LTBP3	NM_001130144.3(LTBP3):c.*195C>T	noncoding	Benign
11	65539246	G	A	G65539246A	LTBP3	NM_001130144.3(LTBP3):c.3761-15C>T	noncoding	Benign
11	65539460	C	A	C65539460A	LTBP3	NM_001130144.3(LTBP3):c.3629-1G>T	coding	Pathogenic
11	65539479	A	G	A65539479G	LTBP3	NM_001130144.3(LTBP3):c.3629-20T>C	noncoding	Benign
11	65539931	C	T	C65539931T	LTBP3	NM_001130144.3(LTBP3):c.3386-50G>A	noncoding	Benign
11	65540381	G	A	G65540381A	LTBP3	NM_001130144.3(LTBP3):c.3108C>T:p.Asp1036=	coding	Benign
11	65540472	G	T	G65540472T	LTBP3	NM_001130144.3(LTBP3):c.3106+14C>A	noncoding	Benign
11	65540693	A	C	A65540693C	LTBP3	NM_001130144.3(LTBP3):c.2978-79T>G	noncoding	Benign
11	65540861	G	C	G65540861C	LTBP3	NM_001130144.3(LTBP3):c.2977+10C>G	noncoding	Benign
11	65541306	C	T	C65541306T	LTBP3	NM_001130144.3(LTBP3):c.2726-13G>A	noncoding	Benign
11	65543445	C	T	C65543445T	LTBP3	NM_001130144.3(LTBP3):c.2458G>A:p.Asp820Asn	coding	Benign
11	65546428	G	A	G65546428A	LTBP3	NM_001130144.3(LTBP3):c.2353+14C>T	noncoding	Benign
11	65547359	A	T	A65547359T	LTBP3	NM_001130144.3(LTBP3):c.2107+80T>A	noncoding	Benign
11	65547377	C	T	C65547377T	LTBP3	NM_001130144.3(LTBP3):c.2107+62G>A	noncoding	Benign
11	65547426	G	A	G65547426A	LTBP3	NM_001130144.3(LTBP3):c.2107+13C>T	noncoding	Benign
11	65547431	C	T	C65547431T	LTBP3	NM_001130144.3(LTBP3):c.2107+8G>A	noncoding	Benign
11	65547529	C	A	C65547529A	LTBP3	NM_001130144.3(LTBP3):c.2017G>T:p.Gly673Cys	coding	Pathogenic
11	65547578	G	C	G65547578C	LTBP3	NM_001130144.3(LTBP3):c.1979-11C>G	noncoding	Benign
11	65547913	C	A	C65547913A	LTBP3	NM_001130144.3(LTBP3):c.1846+7G>T	noncoding	Benign
11	65548031	G	A	G65548031A	LTBP3	NM_001130144.3(LTBP3):c.1735C>T:p.Arg579Ter	coding	Pathogenic
11	65548047	T	C	T65548047C	LTBP3	NM_001130144.3(LTBP3):c.1721-2A>G	noncoding	Pathogenic
11	65551467	C	T	C65551467T	LTBP3	NM_001130144.3(LTBP3):c.1556G>A:p.Ser519Asn	coding	Benign/Likely_benign
11	65551794	T	C	T65551794C	LTBP3	NM_001130144.3(LTBP3):c.1531+178A>G	noncoding	Benign
11	65552261	T	C	T65552261C	LTBP3	NM_001130144.3(LTBP3):c.1332A>G:p.Pro444=	coding	Benign/Likely_benign
11	65552280	G	A	G65552280A	LTBP3	NM_001130144.3(LTBP3):c.1313C>T:p.Ala438Val	coding	Benign
11	65552842	C	A	C65552842A	LTBP3	NM_001130144.3(LTBP3):c.1186+18G>T	noncoding	Benign
11	65553309	G	A	G65553309A	LTBP3	NM_001130144.3(LTBP3):c.971-53C>T	noncoding	Benign
11	65553463	C	T	C65553463T	LTBP3	NM_001130144.3(LTBP3):c.932G>A:p.Trp311Ter	coding	Pathogenic
11	65553510	G	A	G65553510A	LTBP3	NM_001130144.3(LTBP3):c.885C>T:p.Pro295=	coding	Benign/Likely_benign
11	65553683	G	A	G65553683A	LTBP3	NM_001130144.3(LTBP3):c.864+18C>T	noncoding	Benign
11	65553857	G	T	G65553857T	LTBP3	NM_001130144.3(LTBP3):c.708C>A:p.Pro236=	coding	Benign
11	65557619	C	T	C65557619T	LTBP3	NM_001130144.3(LTBP3):c.331+10G>A	noncoding	Benign
11	65557989	G	A	G65557989A	LTBP3	NM_001130144.3(LTBP3):c.-30C>T	noncoding	Benign
11	65558451	T	G	T65558451G	LTBP3	Single_allele	noncoding	Benign
11	65558453	T	G	T65558453G	LTBP3	Single_allele	noncoding	Benign
11	65558454	G	T	G65558454T	LTBP3	Single_allele	noncoding	Benign
11	65582285	T	G	T65582285G	EHBP1L1	NM_001099409.3(EHBP1L1):c.1613T>G:p.Val538Gly	coding	Benign
11	65654881	G	A	G65654881A	RELA	NM_021975.4(RELA):c.1153C>T:p.Gln385Ter	coding	Pathogenic
11	65654903	C	T	C65654903T	RELA	NM_021975.4(RELA):c.1131G>A:p.Ser377=	coding	Benign
11	65654954	A	C	A65654954C	RELA	NM_021975.4(RELA):c.1080T>G:p.Tyr360Ter	coding	Pathogenic
11	65655015	C	G	C65655015G	RELA	NM_021975.4(RELA):c.1034-15G>C	noncoding	Benign
11	65655736	G	A	G65655736A	RELA	NM_021975.4(RELA):c.985C>T:p.Arg329Ter	coding	Pathogenic/Likely_pathogenic
11	65655838	C	T	C65655838T	RELA	NM_021975.4(RELA):c.958+17G>A	noncoding	Benign
11	65658311	C	A	C65658311A	RELA	NM_021975.4(RELA):c.853G>T:p.Glu285Ter	coding	Pathogenic
11	65658428	G	A	G65658428A	RELA	NM_021975.4(RELA):c.736C>T:p.Arg246Ter	coding	Pathogenic
11	65658513	G	A	G65658513A	RELA	NM_021975.4(RELA):c.665-14C>T	noncoding	Benign
11	65658704	C	T	C65658704T	RELA	NM_021975.4(RELA):c.664+14G>A	noncoding	Benign
11	65658767	G	A	G65658767A	RELA	NM_021975.4(RELA):c.615C>T:p.Ser205=	coding	Benign
11	65660222	G	A	G65660222A	RELA	NM_021975.4(RELA):c.336-7C>T	noncoding	Benign
11	65662008	C	A	C65662008A	RELA	NM_021975.4(RELA):c.115G>T:p.Glu39Ter	coding	Pathogenic
11	65662163	C	T	C65662163T	RELA	NM_021975.4(RELA):c.34+16G>A	noncoding	Benign
11	65662215	G	A	G65662215A	RELA	NM_021975.4(RELA):c.8-10C>T	noncoding	Benign
11	65712931	G	A	G65712931A	KAT5	NM_182710.3(KAT5):c.257G>A:p.Arg86His	coding	Pathogenic
11	65716922	T	A	T65716922A	KAT5	NM_182710.3(KAT5):c.1204T>A:p.Cys402Ser	coding	Pathogenic
11	65718661	T	G	T65718661G	KAT5	NM_182710.3(KAT5):c.1336T>G:p.Ser446Ala	coding	Pathogenic
11	65720032	C	T	C65720032T	RNASEH2C	NM_032193.4(RNASEH2C):c.468+13G>A	noncoding	Benign/Likely_benign
11	65720045	C	A	C65720045A	RNASEH2C	NM_032193.4(RNASEH2C):c.468G>T:p.Ala156=	coding	Benign/Likely_benign
11	65856048	G	A	G65856048A	CFL1	NM_005507.3(CFL1):c.198C>T:p.Asp66=	coding	Benign
11	65867292	C	G	C65867292G	EFEMP2	NM_016938.5(EFEMP2):c.1171-213G>C	noncoding	Benign
11	65868088	G	A	G65868088A	EFEMP2	NM_016938.5(EFEMP2):c.975-32C>T	noncoding	Benign
11	65868437	G	A	G65868437A	EFEMP2	NM_016938.5(EFEMP2):c.848-16C>T	noncoding	Benign
11	65868830	T	C	T65868830C	EFEMP2	NM_016938.5(EFEMP2):c.728-201A>G	noncoding	Benign
11	65869802	A	G	A65869802G	EFEMP2	NM_016938.5(EFEMP2):c.727+55T>C	noncoding	Benign
11	65869870	G	A	G65869870A	EFEMP2	NM_016938.5(EFEMP2):c.714C>T:p.Gly238=	coding	Benign/Likely_benign
11	65870669	C	T	C65870669T	EFEMP2	NM_016938.5(EFEMP2):c.368-11G>A	noncoding	Benign/Likely_benign
11	65870676	C	T	C65870676T	EFEMP2	NM_016938.5(EFEMP2):c.368-18G>A	noncoding	Benign/Likely_benign
11	65871903	C	T	C65871903T	EFEMP2	NM_016938.5(EFEMP2):c.160+67G>A	noncoding	Benign
11	65884359	A	G	A65884359G	FIBP	NM_004214.5(FIBP):c.1004+33T>C	noncoding	Benign
11	66002932	T	C	T66002932C	BANF1	NM_003860.4(BANF1):c.-16-303T>C	noncoding	Benign
11	66002942	G	A	G66002942A	BANF1	NM_003860.4(BANF1):c.-16-293G>A	noncoding	Benign
11	66003074	G	A	G66003074A	BANF1	NM_003860.4(BANF1):c.-16-161G>A	noncoding	Benign
11	66003187	A	G	A66003187G	BANF1	NM_003860.4(BANF1):c.-16-48A>G	noncoding	Benign
11	66003482	G	A	G66003482A	BANF1	NM_003860.4(BANF1):c.123+109G>A	noncoding	Benign
11	66017353	T	A	T66017353A	CATSPER1	NM_053054.4(CATSPER1):c.2202-179A>T	noncoding	Benign
11	66020296	C	T	C66020296T	CATSPER1	NM_053054.4(CATSPER1):c.2064+21G>A	noncoding	Benign
11	66020447	G	A	G66020447A	CATSPER1	NM_053054.4(CATSPER1):c.1992-58C>T	noncoding	Benign
11	66021666	C	G	C66021666G	CATSPER1	NM_053054.4(CATSPER1):c.1544-23G>C	noncoding	Benign
11	66023339	G	A	G66023339A	CATSPER1	NM_053054.4(CATSPER1):c.1217-278C>T	noncoding	Benign
11	66025073	G	A	G66025073A	CATSPER1	NM_053054.4(CATSPER1):c.1216+91C>T	noncoding	Benign
11	66025095	G	T	G66025095T	CATSPER1	NM_053054.4(CATSPER1):c.1216+69C>A	noncoding	Benign
11	66042292	C	T	C66042292T	GAL3ST3	NM_033036.3(GAL3ST3):c.*215G>A	noncoding	Benign
11	66042404	C	A	C66042404A	GAL3ST3	NM_033036.3(GAL3ST3):c.*103G>T	noncoding	Benign
11	66042574	T	G	T66042574G	GAL3ST3	NM_033036.3(GAL3ST3):c.1229A>C:p.Glu410Ala	coding	Benign
11	66042738	C	T	C66042738T	GAL3ST3	NM_033036.3(GAL3ST3):c.1065G>A:p.Pro355=	coding	Benign
11	66042768	G	A	G66042768A	GAL3ST3	NM_033036.3(GAL3ST3):c.1035C>T:p.Ala345=	coding	Benign
11	66043278	T	C	T66043278C	GAL3ST3	NM_033036.3(GAL3ST3):c.525A>G:p.Val175=	coding	Benign
11	66043398	C	T	C66043398T	GAL3ST3	NM_033036.3(GAL3ST3):c.405G>A:p.Ala135=	coding	Benign
11	66043737	G	T	G66043737T	GAL3ST3	NM_033036.3(GAL3ST3):c.126-60C>A	noncoding	Benign
11	66045016	C	T	C66045016T	GAL3ST3	NM_033036.3(GAL3ST3):c.125+275G>A	noncoding	Benign
11	66045138	A	G	A66045138G	GAL3ST3	NM_033036.3(GAL3ST3):c.125+153T>C	noncoding	Benign
11	66052385	A	T	A66052385T	SF3B2	NM_006842.3(SF3B2):c.1A>T:p.Met1Leu	coding	Pathogenic
11	66059233	G	A	G66059233A	SF3B2	NM_006842.3(SF3B2):c.1215G>A:p.Lys405=	coding	Benign
11	66061933	C	T	C66061933T	SF3B2	NM_006842.3(SF3B2):c.1912C>T:p.Arg638Ter	coding	Pathogenic
11	66070128	C	T	C66070128T	PACS1	Single_allele	noncoding	Benign
11	66070208	C	G	C66070208G	PACS1	Single_allele	noncoding	Benign
11	66070872	G	A	G66070872A	PACS1	NM_018026.4(PACS1):c.356+30G>A	noncoding	Benign
11	66071059	G	T	G66071059T	PACS1	NM_018026.4(PACS1):c.356+217G>T	noncoding	Benign
11	66071101	C	T	C66071101T	PACS1	NM_018026.4(PACS1):c.356+259C>T	noncoding	Benign
11	66193451	G	A	G66193451A	PACS1	NM_018026.4(PACS1):c.357-35G>A	noncoding	Benign
11	66210347	T	C	T66210347C	PACS1	NM_018026.4(PACS1):c.445-15T>C	noncoding	Benign/Likely_benign
11	66210454	G	A	G66210454A	PACS1	NM_018026.4(PACS1):c.534+3G>A	noncoding	Benign
11	66210464	T	C	T66210464C	PACS1	NM_018026.4(PACS1):c.534+13T>C	noncoding	Benign
11	66210925	A	G	A66210925G	PACS1	NM_018026.4(PACS1):c.535-209A>G	noncoding	Benign
11	66210982	C	T	C66210982T	PACS1	NM_018026.4(PACS1):c.535-152C>T	noncoding	Benign
11	66211107	C	T	C66211107T	PACS1	NM_018026.4(PACS1):c.535-27C>T	noncoding	Benign
11	66211230	T	C	T66211230C	PACS1	NM_018026.4(PACS1):c.631T>C:p.Leu211=	coding	Benign/Likely_benign
11	66211325	C	T	C66211325T	PACS1	NM_018026.4(PACS1):c.660+66C>T	noncoding	Benign
11	66216051	A	G	A66216051G	PACS1	NM_018026.4(PACS1):c.661-68A>G	noncoding	Benign
11	66216092	G	T	G66216092T	PACS1	NM_018026.4(PACS1):c.661-27G>T	noncoding	Benign
11	66216094	C	T	C66216094T	PACS1	NM_018026.4(PACS1):c.661-25C>T	noncoding	Benign
11	66216307	C	T	C66216307T	PACS1	NM_018026.4(PACS1):c.805+44C>T	noncoding	Benign
11	66216856	T	C	T66216856C	PACS1	NM_018026.4(PACS1):c.978+81T>C	noncoding	Benign
11	66219626	C	T	C66219626T	PACS1	NM_018026.4(PACS1):c.979-120C>T	noncoding	Benign
11	66220004	T	C	T66220004C	PACS1	NM_018026.4(PACS1):c.1038+199T>C	noncoding	Benign
11	66220774	G	A	G66220774A	PACS1	NM_018026.4(PACS1):c.1182G>A:p.Thr394=	coding	Benign/Likely_benign
11	66220807	T	C	T66220807C	PACS1	NM_018026.4(PACS1):c.1199+16T>C	noncoding	Benign
11	66220950	C	T	C66220950T	PACS1	NM_018026.4(PACS1):c.1199+159C>T	noncoding	Benign
11	66221187	C	T	C66221187T	PACS1	NM_018026.4(PACS1):c.1233C>T:p.Ser411=	coding	Benign/Likely_benign
11	66221240	C	A	C66221240A	PACS1	NM_018026.4(PACS1):c.1286C>A:p.Thr429Asn	coding	Benign
11	66221253	C	T	C66221253T	PACS1	NM_018026.4(PACS1):c.1293+6C>T	noncoding	Benign/Likely_benign
11	66221284	G	A	G66221284A	PACS1	NM_018026.4(PACS1):c.1293+37G>A	noncoding	Benign
11	66227470	G	T	G66227470T	PACS1	NM_018026.4(PACS1):c.1294-34G>T	noncoding	Benign
11	66227610	C	T	C66227610T	PACS1	NM_018026.4(PACS1):c.1374+26C>T	noncoding	Benign
11	66230427	A	G	A66230427G	PACS1	NM_018026.4(PACS1):c.1375-121A>G	noncoding	Benign
11	66230809	G	T	G66230809T	PACS1	NM_018026.4(PACS1):c.1495G>T:p.Val499Leu	coding	Benign/Likely_benign
11	66230888	G	A	G66230888A	PACS1	NM_018026.4(PACS1):c.1574G>A:p.Arg525Lys	coding	Pathogenic
11	66231112	G	A	G66231112A	PACS1	NM_018026.4(PACS1):c.1626+172G>A	noncoding	Benign
11	66232143	A	T	A66232143T	PACS1	NM_018026.4(PACS1):c.1627-29A>T	noncoding	Benign
11	66232294	G	A	G66232294A	PACS1	NM_018026.4(PACS1):c.1731+18G>A	noncoding	Benign
11	66232307	G	T	G66232307T	PACS1	NM_018026.4(PACS1):c.1731+31G>T	noncoding	Benign
11	66233075	T	C	T66233075C	PACS1	NM_018026.4(PACS1):c.1838+9T>C	noncoding	Benign/Likely_benign
11	66233250	G	A	G66233250A	PACS1	NM_018026.4(PACS1):c.1838+184G>A	noncoding	Benign
11	66233827	T	C	T66233827C	PACS1	NM_018026.4(PACS1):c.1881T>C:p.Ala627=	coding	Benign
11	66233947	C	T	C66233947T	PACS1	NM_018026.4(PACS1):c.1993+8C>T	noncoding	Benign
11	66233957	C	T	C66233957T	PACS1	NM_018026.4(PACS1):c.1993+18C>T	noncoding	Benign
11	66234278	C	T	C66234278T	PACS1	NM_018026.4(PACS1):c.2104+36C>T	noncoding	Benign
11	66234398	C	T	C66234398T	PACS1	NM_018026.4(PACS1):c.2104+156C>T	noncoding	Benign
11	66234407	A	T	A66234407T	PACS1	NM_018026.4(PACS1):c.2104+165A>T	noncoding	Benign
11	66235210	G	A	G66235210A	PACS1	NM_018026.4(PACS1):c.2105-91G>A	noncoding	Benign
11	66235374	C	T	C66235374T	PACS1	NM_018026.4(PACS1):c.2178C>T:p.Ala726=	coding	Benign/Likely_benign
11	66235394	G	A	G66235394A	PACS1	NM_018026.4(PACS1):c.2198G>A:p.Arg733Gln	coding	Benign/Likely_benign
11	66235952	C	T	C66235952T	PACS1	NM_018026.4(PACS1):c.2250+12C>T	noncoding	Benign
11	66238852	G	C	G66238852C	PACS1	NM_018026.4(PACS1):c.2293+6G>C	noncoding	Benign
11	66239074	T	C	T66239074C	PACS1	NM_018026.4(PACS1):c.2294-68T>C	noncoding	Benign
11	66239218	A	T	A66239218T	PACS1	NM_018026.4(PACS1):c.2370A>T:p.Arg790=	coding	Benign/Likely_benign
11	66239226	C	T	C66239226T	PACS1	NM_018026.4(PACS1):c.2378C>T:p.Thr793Met	coding	Benign
11	66239328	C	T	C66239328T	PACS1	NM_018026.4(PACS1):c.2429+51C>T	noncoding	Benign
11	66239329	G	A	G66239329A	PACS1	NM_018026.4(PACS1):c.2429+52G>A	noncoding	Benign
11	66241077	A	G	A66241077G	PACS1	NM_018026.4(PACS1):c.2430-350A>G	noncoding	Benign
11	66241523	C	T	C66241523T	PACS1	NM_018026.4(PACS1):c.2526C>T:p.Asp842_Ala843=	coding	Benign
11	66242865	C	T	C66242865T	PACS1	NM_018026.4(PACS1):c.2657-47C>T	noncoding	Benign
11	66242866	G	A	G66242866A	PACS1	NM_018026.4(PACS1):c.2657-46G>A	noncoding	Benign
11	66243059	G	C	G66243059C	PACS1	NM_018026.4(PACS1):c.2776+28G>C	noncoding	Benign
11	66243319	A	T	A66243319T	PACS1	NM_018026.4(PACS1):c.*39A>T	noncoding	Benign
11	66263880	C	T	C66263880T	KLC2	NM_001318734.2(KLC2):c.870C>T:p.Val290=	coding	Benign
11	66263979	T	C	T66263979C	KLC2	NM_001318734.2(KLC2):c.942+27T>C	noncoding	Benign
11	66264189	C	T	C66264189T	KLC2	NM_001318734.2(KLC2):c.1086C>T:p.Asp362=	coding	Benign
11	66264337	G	A	G66264337A	KLC2	NM_001318734.2(KLC2):c.1117-8G>A	noncoding	Benign
11	66265830	C	T	C66265830T	KLC2	NM_001318734.2(KLC2):c.1444-24C>T	noncoding	Benign
11	66265959	C	T	C66265959T	KLC2	NM_001318734.2(KLC2):c.1549C>T:p.Pro517Ser	coding	Benign
11	66346090	C	A	C66346090A	B4GAT1	NM_006876.3(B4GAT1):c.1207G>T:p.Glu403Ter	coding	Pathogenic
11	66346682	A	T	A66346682T	B4GAT1	NM_006876.3(B4GAT1):c.864T>A:p.Tyr288Ter	coding	Pathogenic
11	66347350	C	T	C66347350T	B4GAT1	NM_006876.3(B4GAT1):c.196G>A:p.Ala66Thr	coding	Benign/Likely_benign
11	66347816	G	C	G66347816C	B4GAT1	Single_allele	noncoding	Benign
11	66510498	C	T	C66510498T	BBS1	Single_allele	noncoding	Benign
11	66510588	C	G	C66510588G	BBS1	NM_024649.5(BBS1):c.-72C>G	noncoding	Benign
11	66510660	A	G	A66510660G	BBS1	NM_024649.5(BBS1):c.1A>G:p.Met1Val	coding	Pathogenic
11	66510660	A	T	A66510660T	BBS1	NM_024649.5(BBS1):c.1A>T:p.Met1Leu	coding	Pathogenic/Likely_pathogenic
11	66510707	G	T	G66510707T	BBS1	NM_024649.5(BBS1):c.47+1G>T	coding	Pathogenic
11	66511011	A	C	A66511011C	BBS1	NM_024649.5(BBS1):c.48-2A>C	noncoding	Pathogenic/Likely_pathogenic
11	66511012	G	A	G66511012A	BBS1	NM_024649.5(BBS1):c.48-1G>A	noncoding	Pathogenic
11	66511012	G	T	G66511012T	BBS1	NM_024649.5(BBS1):c.48-1G>T	noncoding	Pathogenic/Likely_pathogenic
11	66514628	C	T	C66514628T	BBS1	NM_024649.5(BBS1):c.382C>T:p.Gln128Ter	coding	Pathogenic
11	66514667	C	T	C66514667T	BBS1	NM_024649.5(BBS1):c.421C>T:p.Gln141Ter	coding	Pathogenic
11	66515786	C	T	C66515786T	BBS1	NM_024649.5(BBS1):c.518+55C>T	noncoding	Benign
11	66515931	C	T	C66515931T	BBS1	NM_024649.5(BBS1):c.589C>T:p.Gln197Ter	coding	Pathogenic
11	66519749	G	C	G66519749C	BBS1	NM_024649.5(BBS1):c.723+1G>C	coding	Pathogenic
11	66519912	G	A	G66519912A	BBS1	NM_024649.5(BBS1):c.723+164G>A	noncoding	Benign
11	66520045	A	G	A66520045G	BBS1	NM_024649.5(BBS1):c.723+297A>G	noncoding	Benign
11	66521376	G	A	G66521376A	BBS1	NM_024649.5(BBS1):c.830G>A:p.Arg277Lys	coding	Pathogenic
11	66523454	A	G	A66523454G	BBS1	NM_024649.5(BBS1):c.831-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	66523634	C	T	C66523634T	BBS1	NM_024649.5(BBS1):c.951+58C>T	noncoding	Pathogenic
11	66523885	G	C	G66523885C	BBS1	NM_024649.5(BBS1):c.1110+3G>C	noncoding	Pathogenic
11	66524089	A	G	A66524089G	BBS1	NM_024649.5(BBS1):c.1110+207A>G	noncoding	Benign
11	66526308	T	C	T66526308C	BBS1	NM_024649.5(BBS1):c.1180+116T>C	noncoding	Benign
11	66526729	C	T	C66526729T	BBS1	NM_024649.5(BBS1):c.1261C>T:p.Gln421Ter	coding	Pathogenic
11	66526807	G	A	G66526807A	BBS1	NM_024649.5(BBS1):c.1339G>A:p.Ala447Thr	coding	Pathogenic/Likely_pathogenic
11	66530936	C	T	C66530936T	BBS1	NM_024649.5(BBS1):c.1516C>T:p.Gln506Ter	coding	Pathogenic
11	66531123	C	T	C66531123T	BBS1	NM_024649.5(BBS1):c.1608+95C>T	noncoding	Benign
11	66531152	A	C	A66531152C	BBS1	NM_024649.5(BBS1):c.1608+124A>C	noncoding	Benign
11	66531704	G	T	G66531704T	BBS1	NM_024649.5(BBS1):c.1657G>T:p.Glu553Ter	coding	Pathogenic
11	66531743	G	A	G66531743A	BBS1	NM_024649.5(BBS1):c.1695+1G>A	coding	Pathogenic
11	66563698	C	T	C66563698T	CTSF	NM_003793.4(CTSF):c.*235G>A	noncoding	Benign
11	66564165	C	T	C66564165T	CTSF	NM_003793.4(CTSF):c.1322-19G>A	noncoding	Benign/Likely_benign
11	66565281	C	G	C66565281G	CTSF	NM_003793.4(CTSF):c.1046-275G>C	noncoding	Benign
11	66565601	C	A	C66565601A	CTSF	NM_003793.4(CTSF):c.1045+70G>T	noncoding	Benign
11	66566520	A	G	A66566520G	CTSF	NM_003793.4(CTSF):c.608-116T>C	noncoding	Benign
11	66567085	G	A	G66567085A	CTSF	NM_003793.4(CTSF):c.607+161C>T	noncoding	Benign
11	66567256	C	T	C66567256T	CTSF	NM_003793.4(CTSF):c.597G>A:p.Glu199=	coding	Benign/Likely_benign
11	66567802	G	A	G66567802A	CTSF	NM_003793.4(CTSF):c.313-140C>T	noncoding	Benign
11	66567837	T	C	T66567837C	CTSF	NM_003793.4(CTSF):c.312+147A>G	noncoding	Benign
11	66567944	C	G	C66567944G	CTSF	NM_003793.4(CTSF):c.312+40G>C	noncoding	Benign
11	66568442	C	A	C66568442A	CTSF	NM_003793.4(CTSF):c.45G>T:p.Pro15=	coding	Benign
11	66568589	G	A	G66568589A	CTSF	NM_003793.4(CTSF):c.-103C>T	noncoding	Benign
11	66568697	A	G	A66568697G	CTSF	Single_allele	noncoding	Benign
11	66568700	C	A	C66568700A	CTSF	Single_allele	noncoding	Benign
11	66568713	C	G	C66568713G	CTSF	Single_allele	noncoding	Benign
11	66568739	T	C	T66568739C	CTSF	Single_allele	noncoding	Benign
11	66686529	A	G	A66686529G	SPTBN2	NM_006946.4(SPTBN2):c.6897-89T>C	noncoding	Benign
11	66687077	G	A	G66687077A	SPTBN2	NM_006946.4(SPTBN2):c.6813C>T:p.His2271=	coding	Benign
11	66687447	G	A	G66687447A	SPTBN2	NM_006946.4(SPTBN2):c.6702C>T:p.Phe2234=	coding	Benign
11	66687587	C	T	C66687587T	SPTBN2	NM_006946.4(SPTBN2):c.6562G>A:p.Gly2188Ser	coding	Benign
11	66688095	G	C	G66688095C	SPTBN2	NM_006946.4(SPTBN2):c.6375-16C>G	noncoding	Benign
11	66688277	C	T	C66688277T	SPTBN2	NM_006946.4(SPTBN2):c.6266G>A:p.Arg2089Lys	coding	Benign/Likely_benign
11	66688916	T	C	T66688916C	SPTBN2	NM_006946.4(SPTBN2):c.6035-67A>G	noncoding	Benign
11	66690303	A	C	A66690303C	SPTBN2	NM_006946.4(SPTBN2):c.5566-20T>G	noncoding	Benign
11	66691205	T	C	T66691205C	SPTBN2	NM_006946.4(SPTBN2):c.5565+79A>G	noncoding	Benign
11	66691225	C	T	C66691225T	SPTBN2	NM_006946.4(SPTBN2):c.5565+59G>A	noncoding	Benign
11	66691374	C	T	C66691374T	SPTBN2	NM_006946.4(SPTBN2):c.5475G>A:p.Pro1825=	coding	Benign
11	66693011	C	T	C66693011T	SPTBN2	NM_006946.4(SPTBN2):c.4944G>A:p.Ala1648=	coding	Benign/Likely_benign
11	66693240	C	T	C66693240T	SPTBN2	NM_006946.4(SPTBN2):c.4800G>A:p.Ala1600=	coding	Benign
11	66693799	G	A	G66693799A	SPTBN2	NM_006946.4(SPTBN2):c.4566C>T:p.Ser1522=	coding	Benign
11	66699344	G	A	G66699344A	SPTBN2	NM_006946.4(SPTBN2):c.3776+62C>T	noncoding	Benign
11	66700781	T	C	T66700781C	SPTBN2	NM_006946.4(SPTBN2):c.3318A>G:p.Gln1106=	coding	Benign
11	66700983	C	T	C66700983T	SPTBN2	NM_006946.4(SPTBN2):c.3116G>A:p.Arg1039Gln	coding	Benign/Likely_benign
11	66701255	G	A	G66701255A	SPTBN2	NM_006946.4(SPTBN2):c.2844C>T:p.Asp948=	coding	Benign
11	66701561	T	C	T66701561C	SPTBN2	NM_006946.4(SPTBN2):c.2816+23A>G	noncoding	Benign
11	66704548	C	A	C66704548A	SPTBN2	NM_006946.4(SPTBN2):c.2678+50G>T	noncoding	Benign
11	66704586	T	G	T66704586G	SPTBN2	NM_006946.4(SPTBN2):c.2678+12A>C	noncoding	Benign
11	66704750	G	A	G66704750A	SPTBN2	NM_006946.4(SPTBN2):c.2526C>T:p.Gly842=	coding	Benign/Likely_benign
11	66705254	G	A	G66705254A	SPTBN2	NM_006946.4(SPTBN2):c.2022C>T:p.Thr674=	coding	Benign/Likely_benign
11	66705671	G	A	G66705671A	SPTBN2	NM_006946.4(SPTBN2):c.1807+13C>T	noncoding	Benign/Likely_benign
11	66707725	G	A	G66707725A	SPTBN2	NM_006946.4(SPTBN2):c.1444C>T:p.Gln482Ter	coding	Pathogenic
11	66708168	G	A	G66708168A	SPTBN2	NM_006946.4(SPTBN2):c.1323C>T:p.Leu441=	coding	Benign/Likely_benign
11	66708181	C	T	C66708181T	SPTBN2	NM_006946.4(SPTBN2):c.1310G>A:p.Arg437Gln	coding	Pathogenic/Likely_pathogenic
11	66708182	G	A	G66708182A	SPTBN2	NM_006946.4(SPTBN2):c.1309C>T:p.Arg437Trp	coding	Pathogenic/Likely_pathogenic
11	66708246	G	T	G66708246T	SPTBN2	NM_006946.4(SPTBN2):c.1245C>A:p.Thr415=	coding	Benign
11	66708251	G	A	G66708251A	SPTBN2	NM_006946.4(SPTBN2):c.1240C>T:p.Arg414Cys	coding	Pathogenic
11	66708932	G	A	G66708932A	SPTBN2	NM_006946.4(SPTBN2):c.1161C>T:p.Arg387=	coding	Benign/Likely_benign
11	66713793	C	T	C66713793T	SPTBN2	NM_006946.4(SPTBN2):c.657-47G>A	noncoding	Benign
11	66715794	A	G	A66715794G	SPTBN2	NM_006946.4(SPTBN2):c.309+36T>C	noncoding	Benign
11	66721068	C	T	C66721068T	SPTBN2	NM_006946.4(SPTBN2):c.157+16G>A	noncoding	Benign
11	66721083	C	T	C66721083T	SPTBN2	NM_006946.4(SPTBN2):c.157+1G>A	noncoding	Pathogenic
11	66848886	G	A	G66848886A	PC	NM_001040716.2(PC):c.*13C>T	noncoding	Benign
11	66849228	A	G	A66849228G	PC	NM_001040716.2(PC):c.3288+2T>C	noncoding	Pathogenic
11	66849229	C	A	C66849229A	PC	NM_001040716.2(PC):c.3288+1G>T	noncoding	Pathogenic
11	66849284	A	G	A66849284G	PC	NM_001040716.2(PC):c.3234T>C:p.Phe1078=	coding	Benign
11	66849716	G	A	G66849716A	PC	NM_001040716.2(PC):c.3042C>T:p.Pro1014=	coding	Benign
11	66850352	A	G	A66850352G	PC	NM_001040716.2(PC):c.2586T>C:p.Tyr862=	coding	Benign
11	66851021	G	A	G66851021A	PC	NM_001040716.2(PC):c.2223+19C>T	noncoding	Benign/Likely_benign
11	66851854	G	A	G66851854A	PC	NM_001040716.2(PC):c.1918C>T:p.Gln640Ter	coding	Pathogenic
11	66852601	G	A	G66852601A	PC	NM_001040716.2(PC):c.1663C>T:p.Arg555Ter	coding	Pathogenic
11	66852677	C	T	C66852677T	PC	NM_001040716.2(PC):c.1604-17G>A	noncoding	Benign/Likely_benign
11	66853238	C	T	C66853238T	PC	NM_001040716.2(PC):c.1513+1G>A	noncoding	Pathogenic
11	66863797	C	A	C66863797A	PC	NM_001040716.2(PC):c.1345G>T:p.Glu449Ter	coding	Pathogenic
11	66863957	C	A	C66863957A	PC	NM_001040716.2(PC):c.1186-1G>T	coding	Pathogenic
11	66866249	G	A	G66866249A	PC	NM_001040716.2(PC):c.1123C>T:p.Gln375Ter	coding	Pathogenic
11	66866330	G	A	G66866330A	PC	NM_001040716.2(PC):c.1042C>T:p.Gln348Ter	coding	Pathogenic
11	66866350	C	T	C66866350T	PC	NM_001040716.2(PC):c.1023-1G>A	coding	Pathogenic
11	66868955	C	A	C66868955A	PC	NM_001040716.2(PC):c.913G>T:p.Glu305Ter	coding	Pathogenic
11	66870897	G	A	G66870897A	PC	NM_001040716.2(PC):c.634-5C>T	noncoding	Benign
11	66871686	C	A	C66871686A	PC	NM_001040716.2(PC):c.321+1G>T	noncoding	Pathogenic
11	67228132	T	C	T67228132C	KDM2A	NM_012308.3(KDM2A):c.1053T>C:p.Thr351=	coding	Benign
11	67279866	C	T	C67279866T	GRK2	NM_001619.5(GRK2):c.469C>T:p.Leu157Phe	coding	Pathogenic
11	67455134	A	C	A67455134C	CABP4	NM_001300896.3(CABP4):c.-112-575A>C	noncoding	Benign
11	67455577	C	T	C67455577T	CABP4	NM_145200.5(CABP4):c.154C>T:p.Arg52Ter	coding	Pathogenic
11	67455715	C	T	C67455715T	CABP4	NM_145200.5(CABP4):c.292C>T:p.Arg98Ter	coding	Pathogenic
11	67456199	G	A	G67456199A	CABP4	NM_145200.5(CABP4):c.378G>A:p.Leu126=	coding	Benign
11	67456220	T	A	T67456220A	CABP4	NM_145200.5(CABP4):c.397+2T>A	noncoding	Pathogenic
11	67456443	G	T	G67456443T	CABP4	NM_145200.5(CABP4):c.541+1G>T	coding	Pathogenic
11	67456530	C	G	C67456530G	CABP4	NM_145200.5(CABP4):c.541+88C>G	noncoding	Benign
11	67457368	G	C	G67457368C	CABP4	NM_145200.5(CABP4):c.542-205G>C	noncoding	Benign
11	67457517	C	T	C67457517T	CABP4	NM_145200.5(CABP4):c.542-56C>T	noncoding	Benign
11	67457656	C	T	C67457656T	CABP4	NM_145200.5(CABP4):c.625C>T:p.Arg209Ter	coding	Pathogenic
11	67457833	A	C	A67457833C	CABP4	NM_145200.5(CABP4):c.651+151A>C	noncoding	Benign
11	67458360	G	A	G67458360A	CABP4	NM_145200.5(CABP4):c.652-11G>A	noncoding	Benign/Likely_benign
11	67458458	G	T	G67458458T	CABP4	NM_145200.5(CABP4):c.739G>T:p.Glu247Ter	coding	Pathogenic
11	67458533	C	T	C67458533T	CABP4	NM_145200.5(CABP4):c.799+15C>T	noncoding	Benign/Likely_benign
11	67483228	G	T	G67483228T	AIP	NM_003977.4(AIP):c.70G>T:p.Glu24Ter	coding	Pathogenic
11	67487000	C	A	C67487000A	AIP	NM_003977.4(AIP):c.100-6C>A	noncoding	Benign
11	67487125	G	A	G67487125A	AIP	NM_003977.4(AIP):c.219G>A:p.Trp73Ter	coding	Pathogenic
11	67487165	C	T	C67487165T	AIP	NM_003977.4(AIP):c.259C>T:p.Gln87Ter	coding	Pathogenic
11	67489566	C	T	C67489566T	AIP	NM_003977.4(AIP):c.468+111C>T	noncoding	Benign
11	67489699	G	A	G67489699A	AIP	NM_003977.4(AIP):c.468+244G>A	noncoding	Benign
11	67489802	G	T	G67489802T	AIP	NM_003977.4(AIP):c.469-236G>T	noncoding	Benign
11	67490055	G	A	G67490055A	AIP	NM_003977.4(AIP):c.486G>A:p.Thr162=	coding	Benign/Likely_benign
11	67490073	G	A	G67490073A	AIP	NM_003977.4(AIP):c.504G>A:p.Trp168Ter	coding	Pathogenic
11	67490122	G	T	G67490122T	AIP	NM_003977.4(AIP):c.553G>T:p.Glu185Ter	coding	Pathogenic
11	67490175	C	G	C67490175G	AIP	NM_003977.4(AIP):c.606C>G:p.Tyr202Ter	coding	Pathogenic
11	67490296	C	G	C67490296G	AIP	NM_003977.4(AIP):c.646-20C>G	coding	Benign
11	67490343	C	T	C67490343T	AIP	NM_003977.4(AIP):c.673C>T:p.Gln225Ter	coding	Pathogenic
11	67490366	G	A	G67490366A	AIP	NM_003977.4(AIP):c.696G>A:p.Pro232=	coding	Benign/Likely_benign
11	67490453	C	G	C67490453G	AIP	NM_003977.4(AIP):c.783C>G:p.Tyr261Ter	coding	Pathogenic
11	67519197	T	C	T67519197C	CABP2	NM_016366.3(CABP2):c.638-33A>G	noncoding	Benign
11	67520372	A	C	A67520372C	CABP2	NM_016366.3(CABP2):c.380-212T>G	noncoding	Benign
11	67520491	C	T	C67520491T	CABP2	NM_016366.3(CABP2):c.380-331G>A	noncoding	Benign
11	67522571	C	T	C67522571T	CABP2	NM_016366.3(CABP2):c.188G>A:p.Arg63Gln	coding	Benign/Likely_benign
11	67522635	C	T	C67522635T	CABP2	NM_016366.3(CABP2):c.124G>A:p.Ala42Thr	coding	Benign/Likely_benign
11	67523172	G	A	G67523172A	CABP2	NM_016366.3(CABP2):c.42+113C>T	noncoding	Benign
11	67523482	G	A	G67523482A	CABP2	Single_allele	noncoding	Benign
11	67523586	C	T	C67523586T	CABP2	Single_allele	noncoding	Benign
11	67583528	C	A	C67583528A	GSTP1	Single_allele	noncoding	Benign
11	67583533	C	T	C67583533T	GSTP1	Single_allele	noncoding	Benign
11	67583826	G	A	G67583826A	GSTP1	NM_000852.4(GSTP1):c.-18G>A	noncoding	Benign
11	67584060	G	A	G67584060A	GSTP1	NM_000852.4(GSTP1):c.2-74G>A	noncoding	Benign
11	67584069	A	G	A67584069G	GSTP1	NM_000852.4(GSTP1):c.2-65A>G	noncoding	Benign
11	67584114	C	G	C67584114G	GSTP1	NM_000852.4(GSTP1):c.2-20C>G	noncoding	Benign
11	67584303	C	T	C67584303T	GSTP1	NM_000852.4(GSTP1):c.37+134C>T	noncoding	Benign
11	67584690	C	T	C67584690T	GSTP1	NM_000852.4(GSTP1):c.150C>T:p.Tyr50=	coding	Benign
11	67584785	C	A	C67584785A	GSTP1	NM_000852.4(GSTP1):c.232+13C>A	noncoding	Benign
11	67585218	A	G	A67585218G	GSTP1	NM_000852.4(GSTP1):c.313A>G:p.Ile105Val	coding	Benign
11	67585782	G	A	G67585782A	GSTP1	NM_000852.4(GSTP1):c.337-322G>A	noncoding	Benign
11	67586108	C	T	C67586108T	GSTP1	NM_000852.4(GSTP1):c.341C>T:p.Ala114Val	coding	Benign
11	67586373	C	T	C67586373T	GSTP1	NM_000852.4(GSTP1):c.445-16C>T	noncoding	Benign
11	67586499	T	C	T67586499C	GSTP1	NM_000852.4(GSTP1):c.555T>C:p.Ser185=	coding	Benign
11	67607110	T	C	T67607110C	NDUFV1	NM_007103.4(NDUFV1):c.72+34T>C	noncoding	Benign
11	67609316	C	A	C67609316A	NDUFV1	NM_007103.4(NDUFV1):c.327-136C>A	noncoding	Benign
11	67609416	G	C	G67609416C	NDUFV1	NM_007103.4(NDUFV1):c.327-36G>C	noncoding	Benign
11	67609461	T	G	T67609461G	NDUFV1	NM_007103.4(NDUFV1):c.336T>G:p.Tyr112Ter	coding	Pathogenic
11	67609581	C	T	C67609581T	NDUFV1	NM_007103.4(NDUFV1):c.456C>T:p.Arg152=	coding	Benign
11	67610316	C	T	C67610316T	NDUFV1	NM_007103.4(NDUFV1):c.511-65C>T	noncoding	Benign
11	67610481	A	G	A67610481G	NDUFV1	NM_007103.4(NDUFV1):c.611A>G:p.Tyr204Cys	coding	Pathogenic
11	67610510	G	A	G67610510A	NDUFV1	NM_007103.4(NDUFV1):c.640G>A:p.Glu214Lys	coding	Pathogenic
11	67610975	C	G	C67610975G	NDUFV1	NM_007103.4(NDUFV1):c.701-20C>G	noncoding	Benign
11	67611026	C	T	C67611026T	NDUFV1	NM_007103.4(NDUFV1):c.732C>T:p.Asn244=	coding	Benign/Likely_benign
11	67611367	C	G	C67611367G	NDUFV1	NM_007103.4(NDUFV1):c.914-36C>G	noncoding	Benign
11	67611608	G	C	G67611608C	NDUFV1	NM_007103.4(NDUFV1):c.1080+39G>C	noncoding	Benign
11	67611997	G	A	G67611997A	NDUFV1	NM_007103.4(NDUFV1):c.1162+19G>A	noncoding	Benign/Likely_benign
11	67612292	G	A	G67612292A	NDUFV1	NM_007103.4(NDUFV1):c.1308+27G>A	noncoding	Benign
11	67991627	A	G	A67991627G	UNC93B1	NM_030930.4(UNC93B1):c.1713T>C:p.Pro571=	coding	Benign
11	67991845	C	T	C67991845T	UNC93B1	NM_030930.4(UNC93B1):c.1495G>A:p.Val499Met	coding	Benign
11	67995753	G	A	G67995753A	UNC93B1	NM_030930.4(UNC93B1):c.1221C>T:p.Ala407=	coding	Benign
11	67998438	G	T	G67998438T	UNC93B1	NM_030930.4(UNC93B1):c.702C>A:p.Cys234Ter	coding	Pathogenic
11	68003128	C	A	C68003128A	UNC93B1	NM_030930.4(UNC93B1):c.286G>T:p.Glu96Ter	coding	Pathogenic
11	68032013	G	C	G68032013C	NDUFS8	NM_002496.4(NDUFS8):c.1-139G>C	noncoding	Benign
11	68032264	C	G	C68032264G	NDUFS8	NM_002496.4(NDUFS8):c.59-22C>G	noncoding	Benign
11	68032459	T	C	T68032459C	NDUFS8	NM_002496.4(NDUFS8):c.109+123T>C	noncoding	Benign
11	68036689	C	T	C68036689T	NDUFS8	Single_allele	noncoding	Benign
11	68041471	T	C	T68041471C	TCIRG1	NM_006019.4(TCIRG1):c.117+83T>C	noncoding	Benign
11	68041832	G	T	G68041832T	TCIRG1	NM_006019.4(TCIRG1):c.196+1G>T	coding	Pathogenic/Likely_pathogenic
11	68042651	C	T	C68042651T	TCIRG1	NM_006019.4(TCIRG1):c.205C>T:p.Gln69Ter	coding	Pathogenic/Likely_pathogenic
11	68042822	C	T	C68042822T	TCIRG1	NM_006019.4(TCIRG1):c.376C>T:p.Gln126Ter	coding	Pathogenic
11	68043365	C	A	C68043365A	TCIRG1	NM_006019.4(TCIRG1):c.504-6C>A	coding	Pathogenic
11	68043390	G	T	G68043390T	TCIRG1	NM_006019.4(TCIRG1):c.523G>T:p.Glu175Ter	coding	Pathogenic
11	68043497	G	A	G68043497A	TCIRG1	NM_006019.4(TCIRG1):c.630G>A:p.Thr210=	coding	Pathogenic
11	68043511	G	A	G68043511A	TCIRG1	NM_006019.4(TCIRG1):c.630+14G>A	noncoding	Benign/Likely_benign
11	68043625	G	T	G68043625T	TCIRG1	NM_006019.4(TCIRG1):c.685G>T:p.Gly229Ter	coding	Pathogenic
11	68043628	C	T	C68043628T	TCIRG1	NM_006019.4(TCIRG1):c.688C>T:p.Gln230Ter	coding	Pathogenic
11	68043803	C	T	C68043803T	TCIRG1	NM_006019.4(TCIRG1):c.714-11C>T	noncoding	Benign
11	68043887	C	T	C68043887T	TCIRG1	NM_006019.4(TCIRG1):c.787C>T:p.Gln263Ter	coding	Pathogenic
11	68043909	T	G	T68043909G	TCIRG1	NM_006019.4(TCIRG1):c.807+2T>G	noncoding	Pathogenic
11	68043920	G	C	G68043920C	TCIRG1	NM_006019.4(TCIRG1):c.807+13G>C	noncoding	Benign
11	68044293	G	A	G68044293A	TCIRG1	NM_006019.4(TCIRG1):c.969G>A:p.Trp323Ter	coding	Pathogenic
11	68044496	G	T	G68044496T	TCIRG1	NM_006019.4(TCIRG1):c.1020+152G>T	noncoding	Benign/Likely_benign
11	68045103	G	C	G68045103C	TCIRG1	NM_006019.4(TCIRG1):c.1165+1G>C	coding	Pathogenic
11	68047574	T	C	T68047574C	TCIRG1	NM_006019.4(TCIRG1):c.1305+2T>C	noncoding	Pathogenic/Likely_pathogenic
11	68047653	C	T	C68047653T	TCIRG1	NM_006019.4(TCIRG1):c.1312C>T:p.Gln438Ter	coding	Pathogenic
11	68047867	C	G	C68047867G	TCIRG1	NM_006019.4(TCIRG1):c.1464-15C>G	noncoding	Benign
11	68047877	C	T	C68047877T	TCIRG1	NM_006019.4(TCIRG1):c.1464-5C>T	noncoding	Benign
11	68047974	T	A	T68047974A	TCIRG1	NM_006019.4(TCIRG1):c.1554+2T>A	noncoding	Pathogenic
11	68048625	G	C	G68048625C	TCIRG1	NM_006019.4(TCIRG1):c.1555-254G>C	noncoding	Benign
11	68048877	A	C	A68048877C	TCIRG1	NM_006019.4(TCIRG1):c.1555-2A>C	noncoding	Pathogenic/Likely_pathogenic
11	68049091	C	T	C68049091T	TCIRG1	NM_006019.4(TCIRG1):c.1684C>T:p.Gln562Ter	coding	Pathogenic/Likely_pathogenic
11	68049183	G	A	G68049183A	TCIRG1	NM_006019.4(TCIRG1):c.1776G>A:p.Trp592Ter	coding	Pathogenic
11	68049292	C	T	C68049292T	TCIRG1	NM_006019.4(TCIRG1):c.1885C>T:p.Gln629Ter	coding	Pathogenic
11	68049469	A	G	A68049469G	TCIRG1	NM_006019.4(TCIRG1):c.1887+175A>G	noncoding	Benign
11	68049961	G	A	G68049961A	TCIRG1	NM_006019.4(TCIRG1):c.2014-1G>A	noncoding	Pathogenic
11	68050272	C	T	C68050272T	TCIRG1	NM_006019.4(TCIRG1):c.2236+18C>T	noncoding	Benign
11	68050409	C	T	C68050409T	TCIRG1	NM_006019.4(TCIRG1):c.2237-78C>T	noncoding	Benign
11	68158935	C	A	C68158935A	KMT5B	NM_017635.5(KMT5B):c.1411G>T:p.Glu471Ter	coding	Pathogenic
11	68171239	T	A	T68171239A	KMT5B	NM_017635.5(KMT5B):c.833A>T:p.Asn278Ile	coding	Pathogenic
11	68173848	G	T	G68173848T	KMT5B	NM_017635.5(KMT5B):c.609C>A:p.Tyr203Ter	coding	Pathogenic
11	68173898	G	A	G68173898A	KMT5B	NM_017635.5(KMT5B):c.559C>T:p.Arg187Ter	coding	Pathogenic/Likely_pathogenic
11	68175020	G	C	G68175020C	KMT5B	NM_017635.5(KMT5B):c.541C>G:p.His181Asp	coding	Pathogenic
11	68312389	C	T	C68312389T	LRP5	Single_allele	noncoding	Benign
11	68313082	C	G	C68313082G	LRP5	NM_002335.4(LRP5):c.91+277C>G	noncoding	Benign
11	68347851	G	A	G68347851A	LRP5	NM_002335.4(LRP5):c.96G>A:p.Ser32=	coding	Benign
11	68347964	T	A	T68347964A	LRP5	NM_002335.4(LRP5):c.209T>A:p.Phe70Tyr	coding	Pathogenic
11	68347965	C	A	C68347965A	LRP5	NM_002335.4(LRP5):c.210C>A:p.Phe70Leu	coding	Pathogenic
11	68348296	C	T	C68348296T	LRP5	NM_002335.4(LRP5):c.488+53C>T	noncoding	Benign
11	68357754	A	G	A68357754G	LRP5	NM_002335.4(LRP5):c.593A>G:p.Asn198Ser	coding	Pathogenic/Likely_pathogenic
11	68357793	G	A	G68357793A	LRP5	NM_002335.4(LRP5):c.632G>A:p.Trp211Ter	coding	Pathogenic
11	68357908	C	T	C68357908T	LRP5	NM_002335.4(LRP5):c.686+61C>T	noncoding	Benign
11	68363530	A	C	A68363530C	LRP5	NM_002335.4(LRP5):c.687-217A>C	noncoding	Benign
11	68363710	T	G	T68363710G	LRP5	NM_002335.4(LRP5):c.687-37T>G	noncoding	Benign
11	68363730	C	T	C68363730T	LRP5	NM_002335.4(LRP5):c.687-17C>T	noncoding	Benign/Likely_benign
11	68363925	C	T	C68363925T	LRP5	NM_002335.4(LRP5):c.865C>T:p.Gln289Ter	coding	Pathogenic
11	68363952	C	T	C68363952T	LRP5	NM_002335.4(LRP5):c.883+9C>T	noncoding	Benign
11	68364043	G	A	G68364043A	LRP5	NM_002335.4(LRP5):c.883+100G>A	noncoding	Benign
11	68364142	G	C	G68364142C	LRP5	NM_002335.4(LRP5):c.883+199G>C	noncoding	Benign
11	68364144	G	A	G68364144A	LRP5	NM_002335.4(LRP5):c.883+201G>A	noncoding	Benign
11	68365263	A	G	A68365263G	LRP5	NM_002335.4(LRP5):c.884-308A>G	noncoding	Benign
11	68365418	A	C	A68365418C	LRP5	NM_002335.4(LRP5):c.884-153A>C	noncoding	Benign
11	68365717	C	T	C68365717T	LRP5	NM_002335.4(LRP5):c.1015+15C>T	noncoding	Benign
11	68386242	C	T	C68386242T	LRP5	NM_002335.4(LRP5):c.1016-74C>T	noncoding	Benign
11	68386499	C	A	C68386499A	LRP5	NM_002335.4(LRP5):c.1199C>A:p.Ala400Glu	coding	Pathogenic
11	68386575	G	A	G68386575A	LRP5	NM_002335.4(LRP5):c.1275G>A:p.Trp425Ter	coding	Pathogenic
11	68386621	G	A	G68386621A	LRP5	NM_002335.4(LRP5):c.1321G>A:p.Glu441Lys	coding	Pathogenic/Likely_pathogenic
11	68386684	C	T	C68386684T	LRP5	NM_002335.4(LRP5):c.1384C>T:p.Arg462Ter	coding	Pathogenic
11	68386695	A	C	A68386695C	LRP5	NM_002335.4(LRP5):c.1395A>C:p.Ala465=	coding	Benign/Likely_benign
11	68386713	G	A	G68386713A	LRP5	NM_002335.4(LRP5):c.1412+1G>A	coding	Pathogenic
11	68386939	G	C	G68386939C	LRP5	NM_002335.4(LRP5):c.1412+227G>C	noncoding	Benign
11	68389727	C	T	C68389727T	LRP5	NM_002335.4(LRP5):c.1413-154C>T	noncoding	Benign
11	68389831	G	A	G68389831A	LRP5	NM_002335.4(LRP5):c.1413-50G>A	noncoding	Benign
11	68389949	G	A	G68389949A	LRP5	NM_002335.4(LRP5):c.1481G>A:p.Arg494Gln	coding	Pathogenic/Likely_pathogenic
11	68389980	G	A	G68389980A	LRP5	NM_002335.4(LRP5):c.1512G>A:p.Trp504Ter	coding	Pathogenic
11	68390032	G	A	G68390032A	LRP5	NM_002335.4(LRP5):c.1564G>A:p.Ala522Thr	coding	Pathogenic
11	68403357	A	G	A68403357G	LRP5	NM_002335.4(LRP5):c.1585-126A>G	noncoding	Benign
11	68403365	G	T	G68403365T	LRP5	NM_002335.4(LRP5):c.1585-118G>T	noncoding	Benign
11	68403761	C	T	C68403761T	LRP5	NM_002335.4(LRP5):c.1801+62C>T	noncoding	Benign
11	68404424	G	A	G68404424A	LRP5	NM_002335.4(LRP5):c.1801+725G>A	noncoding	Benign/Likely_benign
11	68404634	A	C	A68404634C	LRP5	NM_002335.4(LRP5):c.1801+935A>C	noncoding	Benign
11	68410092	G	A	G68410092A	LRP5	NM_002335.4(LRP5):c.2270G>A:p.Trp757Ter	coding	Pathogenic
11	68410240	G	A	G68410240A	LRP5	NM_002335.4(LRP5):c.2318+100G>A	noncoding	Benign
11	68410260	C	T	C68410260T	LRP5	NM_002335.4(LRP5):c.2318+120C>T	noncoding	Benign
11	68411167	T	C	T68411167C	LRP5	NM_002335.4(LRP5):c.2319-269T>C	noncoding	Benign
11	68411200	G	A	G68411200A	LRP5	NM_002335.4(LRP5):c.2319-236G>A	noncoding	Benign
11	68411263	A	G	A68411263G	LRP5	NM_002335.4(LRP5):c.2319-173A>G	noncoding	Benign
11	68411284	G	A	G68411284A	LRP5	NM_002335.4(LRP5):c.2319-152G>A	noncoding	Benign
11	68411657	C	T	C68411657T	LRP5	NM_002335.4(LRP5):c.2503+37C>T	noncoding	Benign
11	68411698	A	G	A68411698G	LRP5	NM_002335.4(LRP5):c.2503+78A>G	noncoding	Benign
11	68414153	A	G	A68414153G	LRP5	NM_002335.4(LRP5):c.2827+141A>G	noncoding	Benign
11	68416310	T	C	T68416310C	LRP5	NM_002335.4(LRP5):c.2828-18T>C	noncoding	Benign
11	68424878	T	G	T68424878G	LRP5	NM_002335.4(LRP5):c.3237-224T>G	noncoding	Benign
11	68424894	C	G	C68424894G	LRP5	NM_002335.4(LRP5):c.3237-208C>G	noncoding	Benign
11	68424953	T	C	T68424953C	LRP5	NM_002335.4(LRP5):c.3237-149T>C	noncoding	Benign
11	68425050	T	G	T68425050G	LRP5	NM_002335.4(LRP5):c.3237-52T>G	noncoding	Benign
11	68426018	G	A	G68426018A	LRP5	NM_002335.4(LRP5):c.3468G>A:p.Gln1156=	coding	Benign/Likely_benign
11	68429362	T	C	T68429362C	LRP5	NM_002335.4(LRP5):c.3638-213T>C	noncoding	Benign
11	68429493	C	T	C68429493T	LRP5	NM_002335.4(LRP5):c.3638-82C>T	noncoding	Benign
11	68429679	C	T	C68429679T	LRP5	NM_002335.4(LRP5):c.3742C>T:p.Gln1248Ter	coding	Pathogenic
11	68433477	G	A	G68433477A	LRP5	NM_002335.4(LRP5):c.3764-125G>A	noncoding	Benign
11	68433539	C	T	C68433539T	LRP5	NM_002335.4(LRP5):c.3764-63C>T	noncoding	Benign
11	68433572	G	A	G68433572A	LRP5	NM_002335.4(LRP5):c.3764-30G>A	noncoding	Benign
11	68433739	G	A	G68433739A	LRP5	NM_002335.4(LRP5):c.3901G>A:p.Ala1301Thr	coding	Benign
11	68433792	C	T	C68433792T	LRP5	NM_002335.4(LRP5):c.3954C>T:p.Asp1318=	coding	Benign
11	68436975	G	A	G68436975A	LRP5	NM_002335.4(LRP5):c.4087G>A:p.Asp1363Asn	coding	Pathogenic
11	68437252	C	T	C68437252T	LRP5	NM_002335.4(LRP5):c.4111+253C>T	noncoding	Benign
11	68438110	T	C	T68438110C	LRP5	NM_002335.4(LRP5):c.4112-336T>C	noncoding	Benign
11	68438432	T	C	T68438432C	LRP5	NM_002335.4(LRP5):c.4112-14T>C	noncoding	Benign/Likely_benign
11	68438705	T	C	T68438705C	LRP5	NM_002335.4(LRP5):c.4348+23T>C	noncoding	Benign
11	68438729	G	C	G68438729C	LRP5	NM_002335.4(LRP5):c.4348+47G>C	noncoding	Benign
11	68438796	A	G	A68438796G	LRP5	NM_002335.4(LRP5):c.4348+114A>G	noncoding	Benign
11	68438864	C	T	C68438864T	LRP5	NM_002335.4(LRP5):c.4348+182C>T	noncoding	Benign
11	68439007	G	A	G68439007A	LRP5	NM_002335.4(LRP5):c.4348+325G>A	noncoding	Benign
11	68439760	C	T	C68439760T	LRP5	NM_002335.4(LRP5):c.4349-17C>T	noncoding	Benign
11	68439776	G	A	G68439776A	LRP5	NM_002335.4(LRP5):c.4349-1G>A	noncoding	Pathogenic
11	68439874	G	C	G68439874C	LRP5	NM_002335.4(LRP5):c.4446G>C:p.Ser1482=	coding	Benign/Likely_benign
11	68439970	C	A	C68439970A	LRP5	NM_002335.4(LRP5):c.4488+54C>A	noncoding	Benign
11	68446651	C	T	C68446651T	LRP5	NM_002335.4(LRP5):c.4586+118C>T	noncoding	Benign
11	68448486	G	A	G68448486A	LRP5	NM_002335.4(LRP5):c.4587-323G>A	noncoding	Benign
11	68448790	C	G	C68448790G	LRP5	NM_002335.4(LRP5):c.4587-19C>G	noncoding	Benign
11	68448836	C	T	C68448836T	LRP5	NM_002335.4(LRP5):c.4614C>T:p.Pro1538=	coding	Benign/Likely_benign
11	68448892	G	A	G68448892A	LRP5	NM_002335.4(LRP5):c.4670G>A:p.Trp1557Ter	coding	Pathogenic
11	68449288	C	T	C68449288T	LRP5	Single_allele	noncoding	Benign
11	68688942	T	C	T68688942C	GAL	NM_015973.5(GAL):c.301+16T>C	noncoding	Benign
11	68691002	T	C	T68691002C	GAL	NM_015973.5(GAL):c.*15T>C	noncoding	Benign
11	68754585	G	A	G68754585A	CPT1A	Single_allele	noncoding	Benign
11	68760132	G	A	G68760132A	CPT1A	NM_001876.4(CPT1A):c.2142+93C>T	noncoding	Benign
11	68760267	C	T	C68760267T	CPT1A	NM_001876.4(CPT1A):c.2100G>A:p.Glu700=	coding	Benign
11	68760296	G	A	G68760296A	CPT1A	NM_001876.4(CPT1A):c.2071C>T:p.Gln691Ter	coding	Pathogenic/Likely_pathogenic
11	68761668	A	T	A68761668T	CPT1A	NM_001876.4(CPT1A):c.1895T>A:p.Leu632Ter	coding	Pathogenic
11	68762789	C	T	C68762789T	CPT1A	NM_001876.4(CPT1A):c.1741-28G>A	noncoding	Benign
11	68762850	C	A	C68762850A	CPT1A	NM_001876.4(CPT1A):c.1741-89G>T	noncoding	Benign
11	68780731	G	T	G68780731T	CPT1A	NM_001876.4(CPT1A):c.1367C>A:p.Ser456Ter	coding	Pathogenic
11	68780792	C	A	C68780792A	CPT1A	NM_001876.4(CPT1A):c.1353-47G>T	noncoding	Benign
11	68781000	G	A	G68781000A	CPT1A	NM_001876.4(CPT1A):c.1353-255C>T	noncoding	Benign
11	68781961	T	C	T68781961C	CPT1A	NM_001876.4(CPT1A):c.1164-2A>G	noncoding	Pathogenic
11	68782078	T	C	T68782078C	CPT1A	NM_001876.4(CPT1A):c.1164-119A>G	noncoding	Benign
11	68784963	G	A	G68784963A	CPT1A	NM_001876.4(CPT1A):c.1015C>T:p.Arg339Ter	coding	Pathogenic
11	68793358	C	T	C68793358T	CPT1A	NM_001876.4(CPT1A):c.924G>A:p.Trp308Ter	coding	Pathogenic
11	68797205	C	T	C68797205T	CPT1A	NM_001876.4(CPT1A):c.694-272G>A	noncoding	Benign
11	68799181	A	G	A68799181G	CPT1A	NM_001876.4(CPT1A):c.693+37T>C	noncoding	Benign
11	68799182	A	C	A68799182C	CPT1A	NM_001876.4(CPT1A):c.693+36T>G	noncoding	Benign
11	68799182	A	G	A68799182G	CPT1A	NM_001876.4(CPT1A):c.693+36T>C	noncoding	Benign
11	68799183	A	T	A68799183T	CPT1A	NM_001876.4(CPT1A):c.693+35T>A	noncoding	Benign
11	68799243	A	C	A68799243C	CPT1A	NM_001876.4(CPT1A):c.668T>G:p.Leu223Ter	coding	Pathogenic
11	68799322	C	A	C68799322A	CPT1A	NM_001876.4(CPT1A):c.589G>T:p.Glu197Ter	coding	Pathogenic
11	68804263	T	C	T68804263C	CPT1A	NM_001876.4(CPT1A):c.454-162A>G	noncoding	Benign
11	68804323	C	G	C68804323G	CPT1A	NM_001876.4(CPT1A):c.454-222G>C	noncoding	Benign
11	68807301	T	G	T68807301G	CPT1A	NM_001876.4(CPT1A):c.453+166A>C	noncoding	Benign
11	68807618	G	A	G68807618A	CPT1A	NM_001876.4(CPT1A):c.302C>T:p.Thr101Met	coding	Benign/Likely_benign
11	68807709	G	A	G68807709A	CPT1A	NM_001876.4(CPT1A):c.282-71C>T	noncoding	Benign
11	68807874	C	T	C68807874T	CPT1A	NM_001876.4(CPT1A):c.282-236G>A	noncoding	Benign
11	68812127	C	G	C68812127G	CPT1A	NM_001876.4(CPT1A):c.281+310G>C	noncoding	Benign
11	68812171	C	T	C68812171T	CPT1A	NM_001876.4(CPT1A):c.281+266G>A	noncoding	Benign
11	68812592	C	T	C68812592T	CPT1A	NM_001876.4(CPT1A):c.142-16G>A	noncoding	Benign/Likely_benign
11	68812593	G	C	G68812593C	CPT1A	NM_001876.4(CPT1A):c.142-17C>G	noncoding	Benign
11	68815399	C	A	C68815399A	CPT1A	NM_001876.4(CPT1A):c.76G>T:p.Glu26Ter	coding	Pathogenic
11	68903809	A	G	A68903809G	IGHMBP2	NM_181514.2(MRPL21):c.2T>C:p.Met1Thr	coding	Benign
11	68904278	C	T	C68904278T	IGHMBP2	NM_002180.3(IGHMBP2):c.86+240C>T	noncoding	Benign
11	68906193	C	T	C68906193T	IGHMBP2	NM_002180.3(IGHMBP2):c.211C>T:p.Arg71Ter	coding	Pathogenic
11	68908261	C	T	C68908261T	IGHMBP2	NM_002180.3(IGHMBP2):c.373C>T:p.Gln125Ter	coding	Pathogenic
11	68908632	G	A	G68908632A	IGHMBP2	NM_002180.3(IGHMBP2):c.547+1G>A	coding	Pathogenic/Likely_pathogenic
11	68911420	C	T	C68911420T	IGHMBP2	NM_002180.3(IGHMBP2):c.548-20C>T	noncoding	Benign/Likely_benign
11	68911530	A	G	A68911530G	IGHMBP2	NM_002180.3(IGHMBP2):c.638A>G:p.His213Arg	coding	Pathogenic/Likely_pathogenic
11	68911604	G	C	G68911604C	IGHMBP2	NM_002180.3(IGHMBP2):c.711+1G>C	coding	Pathogenic
11	68914852	C	T	C68914852T	IGHMBP2	NM_002180.3(IGHMBP2):c.741C>T:p.Ala247=	coding	Benign/Likely_benign
11	68914901	C	T	C68914901T	IGHMBP2	NM_002180.3(IGHMBP2):c.790C>T:p.Arg264Cys	coding	Pathogenic
11	68929181	A	G	A68929181G	IGHMBP2	NM_002180.3(IGHMBP2):c.1061-2A>G	noncoding	Pathogenic
11	68929226	C	T	C68929226T	IGHMBP2	NM_002180.3(IGHMBP2):c.1104C>T:p.Tyr368=	coding	Benign/Likely_benign
11	68929252	G	A	G68929252A	IGHMBP2	NM_002180.3(IGHMBP2):c.1130G>A:p.Cys377Tyr	coding	Pathogenic
11	68929266	G	A	G68929266A	IGHMBP2	NM_002180.3(IGHMBP2):c.1144G>A:p.Glu382Lys	coding	Pathogenic
11	68929320	G	A	G68929320A	IGHMBP2	NM_002180.3(IGHMBP2):c.1198G>A:p.Asp400Asn	coding	Pathogenic
11	68933233	G	C	G68933233C	IGHMBP2	NM_002180.3(IGHMBP2):c.1236-66G>C	noncoding	Benign
11	68933492	C	T	C68933492T	IGHMBP2	NM_002180.3(IGHMBP2):c.1418+11C>T	noncoding	Benign/Likely_benign
11	68933853	A	G	A68933853G	IGHMBP2	NM_002180.3(IGHMBP2):c.1477A>G:p.Thr493Ala	coding	Pathogenic
11	68934207	C	G	C68934207G	IGHMBP2	NM_002180.3(IGHMBP2):c.1538-257C>G	noncoding	Benign
11	68934347	C	T	C68934347T	IGHMBP2	NM_002180.3(IGHMBP2):c.1538-117C>T	noncoding	Benign
11	68935175	T	C	T68935175C	IGHMBP2	NM_002180.3(IGHMBP2):c.1633-124T>C	noncoding	Benign
11	68935396	T	G	T68935396G	IGHMBP2	NM_002180.3(IGHMBP2):c.1730T>G:p.Leu577Arg	coding	Pathogenic
11	68935404	G	A	G68935404A	IGHMBP2	NM_002180.3(IGHMBP2):c.1738G>A:p.Val580Ile	coding	Pathogenic/Likely_pathogenic
11	68935541	C	G	C68935541G	IGHMBP2	NM_002180.3(IGHMBP2):c.1756+119C>G	noncoding	Benign
11	68935555	T	C	T68935555C	IGHMBP2	NM_002180.3(IGHMBP2):c.1756+133T>C	noncoding	Benign
11	68936842	C	T	C68936842T	IGHMBP2	NM_002180.3(IGHMBP2):c.2362C>T:p.Arg788Ter	coding	Pathogenic/Likely_pathogenic
11	68937330	C	T	C68937330T	IGHMBP2	NM_002180.3(IGHMBP2):c.2611+239C>T	noncoding	Benign
11	68937364	G	C	G68937364C	IGHMBP2	NM_002180.3(IGHMBP2):c.2611+273G>C	noncoding	Benign
11	68937390	C	T	C68937390T	IGHMBP2	NM_002180.3(IGHMBP2):c.2611+299C>T	noncoding	Benign
11	68938355	G	T	G68938355T	IGHMBP2	NM_002180.3(IGHMBP2):c.2784+1G>T	coding	Pathogenic
11	68939467	A	G	A68939467G	IGHMBP2	NM_002180.3(IGHMBP2):c.2785-67A>G	noncoding	Benign
11	69063896	G	A	G69063896A	TPCN2	NM_139075.4(TPCN2):c.655G>A:p.Val219Ile	coding	Benign
11	69643662	G	C	G69643662C	CCND1	NM_053056.3(CCND1):c.415-170G>C	noncoding	Benign
11	69647874	G	A	G69647874A	CCND1	NM_053056.3(CCND1):c.575-120G>A	noncoding	Benign
11	69648088	C	T	C69648088T	CCND1	NM_053056.3(CCND1):c.669C>T:p.Phe223=	coding	Benign
11	69648142	G	A	G69648142A	CCND1	NM_053056.3(CCND1):c.723G>A:p.Pro241=	coding	Benign
11	69650913	A	G	A69650913G	CCND1	NM_053056.3(CCND1):c.724-205A>G	noncoding	Benign
11	69651092	A	G	A69651092G	CCND1	NM_053056.3(CCND1):c.724-26A>G	noncoding	Benign
11	69651347	C	A	C69651347A	CCND1	NM_053056.3(CCND1):c.*65C>A	noncoding	Benign
11	69810719	A	G	A69810719G	FGF3	NM_005247.4(FGF3):c.325-19T>C	noncoding	Benign
11	69810743	T	C	T69810743C	FGF3	NM_005247.4(FGF3):c.325-43A>G	noncoding	Benign
11	69810962	G	A	G69810962A	FGF3	NM_005247.4(FGF3):c.325-262C>T	noncoding	Benign
11	69816205	G	A	G69816205A	FGF3	NM_005247.4(FGF3):c.324+115C>T	noncoding	Benign
11	69816210	G	A	G69816210A	FGF3	NM_005247.4(FGF3):c.324+110C>T	noncoding	Benign
11	69816305	A	G	A69816305G	FGF3	NM_005247.4(FGF3):c.324+15T>C	noncoding	Benign/Likely_benign
11	69816309	C	T	C69816309T	FGF3	NM_005247.4(FGF3):c.324+11G>A	noncoding	Benign
11	69816361	G	A	G69816361A	FGF3	NM_005247.4(FGF3):c.283C>T:p.Arg95Trp	coding	Pathogenic/Likely_pathogenic
11	69818542	C	A	C69818542A	FGF3	NM_005247.4(FGF3):c.220+172G>T	noncoding	Benign
11	69819057	C	A	C69819057A	FGF3	NM_005247.4(FGF3):c.-124G>T	noncoding	Benign
11	69819659	G	A	G69819659A	FGF3	Single_allele	noncoding	Benign
11	69819665	A	G	A69819665G	FGF3	Single_allele	noncoding	Benign
11	70203190	G	A	G70203190A	FADD	Single_allele	noncoding	Benign
11	70203417	A	G	A70203417G	FADD	NM_003824.4(FADD):c.-43A>G	noncoding	Benign
11	70206084	T	C	T70206084C	FADD	NM_003824.4(FADD):c.287-49T>C	noncoding	Benign
11	70485363	C	A	C70485363A	SHANK2	NM_012309.5(SHANK2):c.4930G>T:p.Glu1644Ter	coding	Pathogenic
11	70487700	G	A	G70487700A	SHANK2	NM_012309.5(SHANK2):c.2593C>T:p.Gln865Ter	coding	Pathogenic
11	70490306	G	A	G70490306A	SHANK2	NM_012309.5(SHANK2):c.2521C>T:p.Arg841Ter	coding	Pathogenic
11	70492345	G	C	G70492345C	SHANK2	NM_012309.5(SHANK2):c.2429C>G:p.Ser810Ter	coding	Pathogenic
11	70661608	G	A	G70661608A	SHANK2	NM_012309.5(SHANK2):c.1924C>T:p.Arg642Ter	coding	Pathogenic
11	70895542	T	A	T70895542A	SHANK2	NM_012309.5(SHANK2):c.1174+959A>T	noncoding	Benign
11	71435443	T	A	T71435443A	DHCR7	NM_001360.3(DHCR7):c.1360A>T:p.Lys454Ter	coding	Pathogenic
11	71435462	G	A	G71435462A	DHCR7	NM_001360.3(DHCR7):c.1341C>T:p.Asp447=	coding	Benign/Likely_benign
11	71435476	G	A	G71435476A	DHCR7	NM_001360.3(DHCR7):c.1327C>T:p.Arg443Cys	coding	Pathogenic/Likely_pathogenic
11	71435508	T	C	T71435508C	DHCR7	NM_001360.3(DHCR7):c.1295A>G:p.Tyr432Cys	coding	Pathogenic
11	71435513	G	C	G71435513C	DHCR7	NM_001360.3(DHCR7):c.1290C>G:p.Tyr430Ter	coding	Pathogenic/Likely_pathogenic
11	71435581	A	G	A71435581G	DHCR7	NM_001360.3(DHCR7):c.1222T>C:p.Tyr408His	coding	Pathogenic/Likely_pathogenic
11	71435583	T	C	T71435583C	DHCR7	NM_001360.3(DHCR7):c.1220A>G:p.Asn407Ser	coding	Pathogenic
11	71435584	T	A	T71435584A	DHCR7	NM_001360.3(DHCR7):c.1219A>T:p.Asn407Tyr	coding	Pathogenic/Likely_pathogenic
11	71435665	A	G	A71435665G	DHCR7	NM_001360.3(DHCR7):c.1138T>C:p.Cys380Arg	coding	Pathogenic/Likely_pathogenic
11	71435720	G	C	G71435720C	DHCR7	NM_001360.3(DHCR7):c.1083C>G:p.Phe361Leu	coding	Pathogenic
11	71435906	G	A	G71435906A	DHCR7	NM_001360.3(DHCR7):c.964-67C>T	noncoding	Benign
11	71437811	C	A	C71437811A	DHCR7	NM_001360.3(DHCR7):c.963+1G>T	noncoding	Pathogenic/Likely_pathogenic
11	71437823	A	T	A71437823T	DHCR7	NM_001360.3(DHCR7):c.952T>A:p.Tyr318Asn	coding	Pathogenic
11	71437850	C	T	C71437850T	DHCR7	NM_001360.3(DHCR7):c.925G>A:p.Gly309Ser	coding	Pathogenic
11	71437923	G	T	G71437923T	DHCR7	NM_001360.3(DHCR7):c.852C>A:p.Phe284Leu	coding	Pathogenic/Likely_pathogenic
11	71438020	C	T	C71438020T	DHCR7	NM_001360.3(DHCR7):c.832-77G>A	noncoding	Benign
11	71438023	A	G	A71438023G	DHCR7	NM_001360.3(DHCR7):c.832-80T>C	noncoding	Benign
11	71438091	G	A	G71438091A	DHCR7	NM_001360.3(DHCR7):c.832-148C>T	noncoding	Benign
11	71438810	C	T	C71438810T	DHCR7	NM_001360.3(DHCR7):c.831+69G>A	noncoding	Benign
11	71438888	G	T	G71438888T	DHCR7	NM_001360.3(DHCR7):c.822C>A:p.Asn274Lys	coding	Pathogenic
11	71438971	C	T	C71438971T	DHCR7	NM_001360.3(DHCR7):c.739G>A:p.Ala247Thr	coding	Pathogenic
11	71439144	C	T	C71439144T	DHCR7	NM_001360.3(DHCR7):c.627-61G>A	noncoding	Benign
11	71441253	G	C	G71441253C	DHCR7	NM_001360.3(DHCR7):c.600C>G:p.Tyr200Ter	coding	Pathogenic
11	71441267	T	C	T71441267C	DHCR7	NM_001360.3(DHCR7):c.586A>G:p.Met196Val	coding	Benign
11	71441278	G	A	G71441278A	DHCR7	NM_001360.3(DHCR7):c.575C>T:p.Ser192Phe	coding	Pathogenic
11	71441308	C	T	C71441308T	DHCR7	NM_001360.3(DHCR7):c.545G>A:p.Trp182Ter	coding	Pathogenic
11	71442287	G	A	G71442287A	DHCR7	NM_001360.3(DHCR7):c.388C>T:p.Gln130Ter	coding	Pathogenic/Likely_pathogenic
11	71442349	A	G	A71442349G	DHCR7	NM_001360.3(DHCR7):c.326T>C:p.Leu109Pro	coding	Pathogenic/Likely_pathogenic
11	71442413	C	A	C71442413A	DHCR7	NM_001360.3(DHCR7):c.322-60G>T	noncoding	Benign
11	71444203	C	T	C71444203T	DHCR7	NM_001360.3(DHCR7):c.111G>A:p.Trp37Ter	coding	Pathogenic/Likely_pathogenic
11	71444871	G	A	G71444871A	DHCR7	NM_001360.3(DHCR7):c.82C>T:p.Gln28Ter	coding	Pathogenic/Likely_pathogenic
11	71444950	C	T	C71444950T	DHCR7	NM_001360.3(DHCR7):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
11	71447778	T	C	T71447778C	DHCR7	NM_001360.3(DHCR7):c.-131-44A>G	noncoding	Benign
11	71447795	A	C	A71447795C	DHCR7	NM_001360.3(DHCR7):c.-131-61T>G	noncoding	Benign
11	71448594	G	C	G71448594C	DHCR7	Single_allele	noncoding	Benign
11	71448718	T	G	T71448718G	DHCR7	Single_allele	noncoding	Benign
11	71455108	A	C	A71455108C	NADSYN1	NM_018161.5(NADSYN1):c.86-2A>C	noncoding	Pathogenic
11	71458501	G	C	G71458501C	NADSYN1	NM_018161.5(NADSYN1):c.220G>C:p.Val74Leu	coding	Benign
11	71463406	A	G	A71463406G	NADSYN1	NM_018161.5(NADSYN1):c.264-26A>G	noncoding	Benign
11	71463507	C	T	C71463507T	NADSYN1	NM_018161.5(NADSYN1):c.317+22C>T	noncoding	Benign
11	71472428	C	T	C71472428T	NADSYN1	NM_018161.5(NADSYN1):c.408-21C>T	noncoding	Benign
11	71472431	C	T	C71472431T	NADSYN1	NM_018161.5(NADSYN1):c.408-18C>T	noncoding	Benign
11	71473632	A	C	A71473632C	NADSYN1	NM_018161.5(NADSYN1):c.612A>C:p.Gln204His	coding	Benign
11	71474433	T	C	T71474433C	NADSYN1	NM_018161.5(NADSYN1):c.705T>C:p.Cys235=	coding	Benign
11	71474472	T	C	T71474472C	NADSYN1	NM_018161.5(NADSYN1):c.744T>C:p.Ile248=	coding	Benign
11	71478390	T	C	T71478390C	NADSYN1	NM_018161.5(NADSYN1):c.799-5T>C	noncoding	Benign
11	72088058	G	A	G72088058A	LRTOMT	NM_145309.6(LRRC51):c.-139-239G>A	noncoding	Benign
11	72088622	A	C	A72088622C	LRTOMT	NM_145309.6(LRRC51):c.-56+242A>C	noncoding	Benign
11	72088919	T	C	T72088919C	LRTOMT	NM_145309.6(LRRC51):c.-55-110T>C	noncoding	Benign
11	72093720	G	C	G72093720C	LRTOMT	NM_145309.6(LRRC51):c.288+19G>C	noncoding	Benign
11	72096721	A	C	A72096721C	LRTOMT	NM_145309.6(LRTOMT):c.*1201A>C	coding	Benign
11	72097010	T	C	T72097010C	LRTOMT	NM_001145308.5(LRTOMT):c.34+1914T>C	noncoding	Benign
11	72104920	T	C	T72104920C	LRTOMT	NM_001145308.5(LRTOMT):c.35-44T>C	noncoding	Benign
11	72105173	G	A	G72105173A	LRTOMT	NM_001145308.5(LRTOMT):c.83+161G>A	noncoding	Benign
11	72107872	G	A	G72107872A	LRTOMT	NM_001393500.2(TOMT):c.260-51G>A	noncoding	Benign
11	72189920	G	A	G72189920A	FOLR1	NM_000802.3(FOLR1):c.-20G>A	noncoding	Benign
11	72190084	G	A	G72190084A	FOLR1	NM_000802.3(FOLR1):c.-9+153G>A	noncoding	Benign
11	72190447	G	A	G72190447A	FOLR1	NM_000802.3(FOLR1):c.-9+516G>A	noncoding	Benign
11	72190534	C	T	C72190534T	FOLR1	NM_000802.3(FOLR1):c.-9+603C>T	noncoding	Benign
11	72190626	C	T	C72190626T	FOLR1	NM_000802.3(FOLR1):c.-9+695C>T	noncoding	Benign
11	72190801	A	C	A72190801C	FOLR1	NM_000802.3(FOLR1):c.-9+870A>C	noncoding	Benign
11	72195200	T	C	T72195200C	FOLR1	NM_016729.3(FOLR1):c.169-71T>C	noncoding	Benign
11	72195360	G	A	G72195360A	FOLR1	NM_016729.3(FOLR1):c.258G>A:p.Trp86Ter	coding	Pathogenic
11	72195627	C	T	C72195627T	FOLR1	NM_016729.3(FOLR1):c.373C>T:p.Arg125Cys	coding	Pathogenic
11	72195682	G	A	G72195682A	FOLR1	NM_016729.3(FOLR1):c.428G>A:p.Trp143Ter	coding	Pathogenic
11	72196438	T	C	T72196438C	FOLR1	Single_allele	noncoding	Benign
11	72196454	C	T	C72196454T	FOLR1	Single_allele	noncoding	Benign
11	72225386	A	G	A72225386G	INPPL1	NM_001567.4(INPPL1):c.182+220A>G	noncoding	Benign
11	72228407	C	G	C72228407G	INPPL1	NM_001567.4(INPPL1):c.306C>G:p.Tyr102Ter	coding	Pathogenic
11	72228861	C	G	C72228861G	INPPL1	NM_001567.4(INPPL1):c.518+14C>G	noncoding	Benign
11	72229589	G	A	G72229589A	INPPL1	NM_001567.4(INPPL1):c.753+31G>A	noncoding	Benign
11	72230168	A	G	A72230168G	INPPL1	NM_001567.4(INPPL1):c.987A>G:p.Ser329=	coding	Benign
11	72230337	A	G	A72230337G	INPPL1	NM_001567.4(INPPL1):c.1091-25A>G	noncoding	Benign
11	72230643	T	C	T72230643C	INPPL1	NM_001567.4(INPPL1):c.1198-153T>C	noncoding	Benign
11	72230768	C	T	C72230768T	INPPL1	NM_001567.4(INPPL1):c.1198-28C>T	noncoding	Benign
11	72231060	C	T	C72231060T	INPPL1	NM_001567.4(INPPL1):c.1368C>T:p.Asp456=	coding	Benign
11	72231196	G	A	G72231196A	INPPL1	NM_001567.4(INPPL1):c.1497+7G>A	noncoding	Benign
11	72231216	C	A	C72231216A	INPPL1	NM_001567.4(INPPL1):c.1497+27C>A	noncoding	Benign
11	72232610	G	A	G72232610A	INPPL1	NM_001567.4(INPPL1):c.1713-16G>A	noncoding	Benign
11	72232916	C	A	C72232916A	INPPL1	NM_001567.4(INPPL1):c.1893C>A:p.Leu631=	coding	Benign
11	72232917	C	A	C72232917A	INPPL1	NM_001567.4(INPPL1):c.1894C>A:p.Leu632Ile	coding	Benign
11	72233198	C	T	C72233198T	INPPL1	NM_001567.4(INPPL1):c.2040+35C>T	noncoding	Benign
11	72234101	C	T	C72234101T	INPPL1	NM_001567.4(INPPL1):c.2213-180C>T	noncoding	Benign
11	72234288	A	G	A72234288G	INPPL1	NM_001567.4(INPPL1):c.2220A>G:p.Ser740=	coding	Benign
11	72235289	T	C	T72235289C	INPPL1	NM_001567.4(INPPL1):c.2504-7T>C	noncoding	Benign
11	72235952	C	T	C72235952T	INPPL1	NM_001567.4(INPPL1):c.2845C>T:p.Arg949Ter	coding	Pathogenic
11	72237108	C	T	C72237108T	INPPL1	NM_001567.4(INPPL1):c.2880-16C>T	noncoding	Benign
11	72237492	C	G	C72237492G	INPPL1	NM_001567.4(INPPL1):c.3248C>G:p.Ala1083Gly	coding	Benign
11	72237735	G	A	G72237735A	INPPL1	NM_001567.4(INPPL1):c.3491G>A:p.Arg1164Gln	coding	Benign
11	72238020	C	G	C72238020G	INPPL1	NM_001567.4(INPPL1):c.3553-22C>G	noncoding	Benign
11	72238054	C	T	C72238054T	INPPL1	NM_001567.4(INPPL1):c.3565C>T:p.Gln1189Ter	coding	Pathogenic
11	72238189	T	C	T72238189C	INPPL1	NM_001567.4(INPPL1):c.3686+14T>C	noncoding	Benign/Likely_benign
11	72238621	G	C	G72238621C	INPPL1	NM_001567.4(INPPL1):c.*268G>C	noncoding	Benign
11	72293536	G	A	G72293536A	CLPB	NM_001258392.3(CLPB):c.1865C>T:p.Thr622Met	coding	Benign
11	72294039	G	A	G72294039A	CLPB	NM_001258392.3(CLPB):c.1768C>T:p.Arg590Cys	coding	Pathogenic
11	72294414	G	C	G72294414C	CLPB	NM_001258392.3(CLPB):c.1591C>G:p.Arg531Gly	coding	Pathogenic
11	72294417	C	T	C72294417T	CLPB	NM_001258392.3(CLPB):c.1588G>A:p.Gly530Arg	coding	Pathogenic
11	72294434	C	T	C72294434T	CLPB	NM_001258392.3(CLPB):c.1571G>A:p.Arg524Gln	coding	Benign/Likely_benign
11	72301942	G	A	G72301942A	CLPB	NM_001258392.3(CLPB):c.1190C>T:p.Pro397Leu	coding	Pathogenic
11	72307183	A	G	A72307183G	CLPB	NM_001258392.3(CLPB):c.1122+16T>C	noncoding	Benign/Likely_benign
11	72307248	G	T	G72307248T	CLPB	NM_001258392.3(CLPB):c.1073C>A:p.Thr358Lys	coding	Pathogenic
11	72316961	A	G	A72316961G	CLPB	NM_001258392.3(CLPB):c.988+145T>C	noncoding	Benign
11	72329866	C	G	C72329866G	CLPB	NM_001258392.3(CLPB):c.776-62G>C	noncoding	Benign
11	72358830	A	C	A72358830C	CLPB	NM_001258392.3(CLPB):c.775+50T>G	noncoding	Benign
11	72358965	G	A	G72358965A	CLPB	NM_001258392.3(CLPB):c.690C>T:p.Asn230=	coding	Benign/Likely_benign
11	72372993	C	T	C72372993T	CLPB	NM_030813.6(CLPB):c.668G>A:p.Ser223Asn	coding	Benign/Likely_benign
11	72402976	G	A	G72402976A	CLPB	NM_001258392.3(CLPB):c.532C>T:p.Arg178Ter	coding	Pathogenic
11	72430379	G	A	G72430379A	CLPB	NM_001258392.3(CLPB):c.404-16C>T	noncoding	Benign/Likely_benign
11	72434331	C	T	C72434331T	CLPB	NM_001258392.3(CLPB):c.144G>A:p.Leu48=	coding	Benign/Likely_benign
11	72434676	A	C	A72434676C	CLPB	Single_allele	noncoding	Benign
11	72434687	G	A	G72434687A	CLPB	NM_030813.5(CLPB):c.-213C>T	noncoding	Benign
11	72577393	A	T	A72577393T	PDE2A	NM_002599.5(PDE2A):c.2817T>A:p.Asp939Glu	coding	Benign
11	72577555	G	A	G72577555A	PDE2A	NM_002599.5(PDE2A):c.2655C>T:p.Tyr885=	coding	Benign
11	72577607	G	C	G72577607C	PDE2A	NM_002599.5(PDE2A):c.2616-13C>G	noncoding	Benign
11	72578247	T	C	T72578247C	PDE2A	NM_002599.5(PDE2A):c.2601A>G:p.Ala867=	coding	Benign
11	72579585	G	A	G72579585A	PDE2A	NM_002599.5(PDE2A):c.2205C>T:p.Ile735=	coding	Benign
11	72580883	T	C	T72580883C	PDE2A	NM_002599.5(PDE2A):c.2133+3A>G	noncoding	Benign
11	72580988	G	A	G72580988A	PDE2A	NM_002599.5(PDE2A):c.2046-15C>T	noncoding	Benign
11	72581422	G	A	G72581422A	PDE2A	NM_002599.5(PDE2A):c.1980C>T:p.His660=	coding	Benign
11	72581872	C	T	C72581872T	PDE2A	NM_002599.5(PDE2A):c.1922+5G>A	noncoding	Pathogenic
11	72582558	A	G	A72582558G	PDE2A	NM_002599.5(PDE2A):c.1737T>C:p.Asp579=	coding	Benign
11	72584297	G	C	G72584297C	PDE2A	NM_002599.5(PDE2A):c.1554C>G:p.Ala518=	coding	Benign
11	72584539	C	T	C72584539T	PDE2A	NM_002599.5(PDE2A):c.1537+12G>A	noncoding	Benign
11	72584649	T	C	T72584649C	PDE2A	NM_002599.5(PDE2A):c.1439A>G:p.Asp480Gly	coding	Pathogenic
11	72584690	C	T	C72584690T	PDE2A	NM_002599.5(PDE2A):c.1398G>A:p.Ala466=	coding	Benign/Likely_benign
11	72584862	A	G	A72584862G	PDE2A	NM_002599.5(PDE2A):c.1359+10T>C	noncoding	Benign
11	72585604	G	T	G72585604T	PDE2A	NM_002599.5(PDE2A):c.1183-11C>A	noncoding	Benign
11	72586067	C	T	C72586067T	PDE2A	NM_002599.5(PDE2A):c.1182+3G>A	noncoding	Benign
11	72589187	C	T	C72589187T	PDE2A	NM_002599.5(PDE2A):c.927G>A:p.Lys309=	coding	Benign
11	72589742	G	A	G72589742A	PDE2A	NM_002599.5(PDE2A):c.873+9C>T	noncoding	Benign
11	72590173	C	G	C72590173G	PDE2A	NM_002599.5(PDE2A):c.756+19G>C	noncoding	Benign
11	72590415	C	T	C72590415T	PDE2A	NM_002599.5(PDE2A):c.703+12G>A	noncoding	Benign
11	72590459	G	A	G72590459A	PDE2A	NM_002599.5(PDE2A):c.671C>T:p.Thr224Ile	coding	Benign
11	72590522	G	A	G72590522A	PDE2A	NM_002599.5(PDE2A):c.608C>T:p.Pro203Leu	coding	Benign
11	72596636	G	A	G72596636A	PDE2A	NM_002599.5(PDE2A):c.446C>T:p.Pro149Leu	coding	Pathogenic
11	72597607	G	A	G72597607A	PDE2A	NM_002599.5(PDE2A):c.336C>T:p.Ile112=	coding	Benign
11	72605137	C	T	C72605137T	PDE2A	NM_002599.5(PDE2A):c.323+1G>A	noncoding	Pathogenic
11	72608652	G	A	G72608652A	PDE2A	NM_002599.5(PDE2A):c.234+10C>T	noncoding	Benign
11	72697010	G	C	G72697010C	ARAP1	NM_001040118.3(ARAP1):c.3139C>G:p.Gln1047Glu	coding	Benign
11	73950858	G	C	G73950858C	DNAJB13	Single_allele	noncoding	Benign
11	73951088	T	A	T73951088A	DNAJB13	NM_153614.4(DNAJB13):c.19T>A:p.Ser7Thr	coding	Benign
11	73951228	C	T	C73951228T	DNAJB13	NM_153614.4(DNAJB13):c.68+91C>T	noncoding	Benign
11	73951318	A	G	A73951318G	DNAJB13	NM_153614.4(DNAJB13):c.68+181A>G	noncoding	Benign
11	73958000	G	C	G73958000C	DNAJB13	NM_153614.4(DNAJB13):c.69-317G>C	noncoding	Benign
11	73958265	C	A	C73958265A	DNAJB13	NM_153614.4(DNAJB13):c.69-52C>A	noncoding	Benign
11	73958289	A	C	A73958289C	DNAJB13	NM_153614.4(DNAJB13):c.69-28A>C	noncoding	Benign
11	73959388	G	C	G73959388C	DNAJB13	NM_153614.4(DNAJB13):c.173-106G>C	noncoding	Benign
11	73959600	T	C	T73959600C	DNAJB13	NM_153614.4(DNAJB13):c.279T>C:p.His93=	coding	Benign
11	73959932	T	G	T73959932G	DNAJB13	NM_153614.4(DNAJB13):c.334+277T>G	noncoding	Benign
11	73964589	G	T	G73964589T	DNAJB13	NM_153614.4(DNAJB13):c.335-289G>T	noncoding	Benign
11	73965106	C	G	C73965106G	DNAJB13	NM_153614.4(DNAJB13):c.492+71C>G	noncoding	Benign
11	73966500	G	A	G73966500A	DNAJB13	NM_153614.4(DNAJB13):c.606+249G>A	noncoding	Benign
11	73966543	G	A	G73966543A	DNAJB13	NM_153614.4(DNAJB13):c.606+292G>A	noncoding	Benign
11	73968174	G	C	G73968174C	DNAJB13	NM_153614.4(DNAJB13):c.607-171G>C	noncoding	Benign
11	73968187	A	G	A73968187G	DNAJB13	NM_153614.4(DNAJB13):c.607-158A>G	noncoding	Benign
11	73968587	T	C	T73968587C	DNAJB13	NM_153614.4(DNAJB13):c.720+129T>C	noncoding	Benign
11	73968610	G	A	G73968610A	DNAJB13	NM_153614.4(DNAJB13):c.720+152G>A	noncoding	Benign
11	73968792	T	A	T73968792A	DNAJB13	NM_153614.4(DNAJB13):c.720+334T>A	noncoding	Benign
11	73968961	C	T	C73968961T	DNAJB13	NM_153614.4(DNAJB13):c.721-285C>T	noncoding	Benign
11	73969006	C	T	C73969006T	DNAJB13	NM_153614.4(DNAJB13):c.721-240C>T	noncoding	Benign
11	73969018	G	A	G73969018A	DNAJB13	NM_153614.4(DNAJB13):c.721-228G>A	noncoding	Benign
11	73969083	T	G	T73969083G	DNAJB13	NM_153614.4(DNAJB13):c.721-163T>G	noncoding	Benign
11	73969581	T	C	T73969581C	DNAJB13	NM_153614.4(DNAJB13):c.797+259T>C	noncoding	Benign
11	73969582	G	A	G73969582A	DNAJB13	NM_153614.4(DNAJB13):c.797+260G>A	noncoding	Benign
11	73969705	C	T	C73969705T	DNAJB13	NM_153614.4(DNAJB13):c.798-256C>T	noncoding	Benign
11	73969731	C	T	C73969731T	DNAJB13	NM_153614.4(DNAJB13):c.798-230C>T	noncoding	Benign
11	73970045	C	T	C73970045T	DNAJB13	NM_153614.4(DNAJB13):c.882C>T:p.Phe294=	coding	Benign
11	73970090	G	A	G73970090A	DNAJB13	NM_153614.4(DNAJB13):c.927G>A:p.Met309Ile	coding	Benign
11	73970302	T	C	T73970302C	DNAJB13	Single_allele	noncoding	Benign
11	74001814	T	C	T74001814C	UCP3	NM_003356.4(UCP3):c.825-288A>G	noncoding	Benign
11	74003294	G	A	G74003294A	UCP3	NM_003356.4(UCP3):c.824+533C>T	coding	Benign
11	74004497	G	A	G74004497A	UCP3	NM_003356.4(UCP3):c.630C>T:p.Tyr210=	coding	Benign
11	74004621	G	A	G74004621A	UCP3	NM_003356.4(UCP3):c.542-36C>T	noncoding	Benign
11	74005979	A	T	A74005979T	UCP3	NM_003356.4(UCP3):c.338-46T>A	noncoding	Benign
11	74005980	T	C	T74005980C	UCP3	NM_003356.4(UCP3):c.338-47A>G	noncoding	Benign
11	74006202	C	T	C74006202T	UCP3	NM_003356.4(UCP3):c.304G>A:p.Val102Ile	coding	Benign
11	74006209	A	G	A74006209G	UCP3	NM_003356.4(UCP3):c.297T>C:p.Tyr99=	coding	Benign
11	74006351	G	A	G74006351A	UCP3	NM_003356.4(UCP3):c.155C>T:p.Thr52Met	coding	Benign
11	74006522	C	G	C74006522G	UCP3	NM_003356.4(UCP3):c.127-143G>C	noncoding	Benign
11	74013403	C	T	C74013403T	C2CD3	NM_001286577.2(C2CD3):c.7044G>A:p.Gln2348=	coding	Benign
11	74013463	C	A	C74013463A	C2CD3	NM_001286577.2(C2CD3):c.6984G>T:p.Ser2328=	coding	Benign
11	74013467	T	C	T74013467C	C2CD3	NM_001286577.2(C2CD3):c.6980A>G:p.Asn2327Ser	coding	Benign
11	74028045	T	C	T74028045C	C2CD3	NM_001286577.2(C2CD3):c.6921+242A>G	noncoding	Benign
11	74028245	T	G	T74028245G	C2CD3	NM_001286577.2(C2CD3):c.6921+42A>C	noncoding	Benign
11	74028256	T	C	T74028256C	C2CD3	NM_001286577.2(C2CD3):c.6921+31A>G	noncoding	Benign
11	74028608	C	G	C74028608G	C2CD3	NM_001286577.2(C2CD3):c.6810-210G>C	noncoding	Benign
11	74028636	T	C	T74028636C	C2CD3	NM_001286577.2(C2CD3):c.6810-238A>G	noncoding	Benign
11	74033449	T	A	T74033449A	C2CD3	NM_001286577.2(C2CD3):c.6711A>T:p.Arg2237Ser	coding	Benign
11	74033671	A	C	A74033671C	C2CD3	NM_001286577.2(C2CD3):c.6489T>G:p.Val2163=	coding	Benign
11	74033702	G	A	G74033702A	C2CD3	NM_001286577.2(C2CD3):c.6458C>T:p.Ala2153Val	coding	Benign
11	74033817	G	A	G74033817A	C2CD3	NM_001286577.2(C2CD3):c.6343C>T:p.Pro2115Ser	coding	Benign
11	74033923	C	T	C74033923T	C2CD3	NM_001286577.2(C2CD3):c.6237G>A:p.Thr2079=	coding	Benign/Likely_benign
11	74033924	G	A	G74033924A	C2CD3	NM_001286577.2(C2CD3):c.6236C>T:p.Thr2079Met	coding	Benign
11	74034038	G	A	G74034038A	C2CD3	NM_001286577.2(C2CD3):c.6122C>T:p.Ala2041Val	coding	Benign
11	74034102	A	G	A74034102G	C2CD3	NM_001286577.2(C2CD3):c.6058T>C:p.Ser2020Pro	coding	Benign
11	74034350	T	C	T74034350C	C2CD3	NM_001286577.2(C2CD3):c.5882-72A>G	noncoding	Benign
11	74037134	T	C	T74037134C	C2CD3	NM_001286577.2(C2CD3):c.5881+344A>G	noncoding	Benign
11	74037208	C	T	C74037208T	C2CD3	NM_001286577.2(C2CD3):c.5881+270G>A	noncoding	Benign
11	74037711	G	A	G74037711A	C2CD3	NM_001286577.2(C2CD3):c.5661-13C>T	noncoding	Benign
11	74041746	A	C	A74041746C	C2CD3	NM_001286577.2(C2CD3):c.5660+308T>G	noncoding	Benign
11	74041879	A	G	A74041879G	C2CD3	NM_001286577.2(C2CD3):c.5660+175T>C	noncoding	Benign
11	74048206	T	C	T74048206C	C2CD3	NM_001286577.2(C2CD3):c.5494A>G:p.Arg1832Gly	coding	Benign
11	74048209	C	A	C74048209A	C2CD3	NM_001286577.2(C2CD3):c.5491G>T:p.Gly1831Trp	coding	Benign
11	74048411	G	A	G74048411A	C2CD3	NM_001286577.2(C2CD3):c.5362-73C>T	noncoding	Benign
11	74048499	T	C	T74048499C	C2CD3	NM_001286577.2(C2CD3):c.5362-161A>G	noncoding	Benign
11	74048574	T	C	T74048574C	C2CD3	NM_001286577.2(C2CD3):c.5362-236A>G	noncoding	Benign
11	74048619	T	G	T74048619G	C2CD3	NM_001286577.2(C2CD3):c.5362-281A>C	noncoding	Benign
11	74049086	T	C	T74049086C	C2CD3	NM_001286577.2(C2CD3):c.5361+251A>G	noncoding	Benign
11	74049368	G	T	G74049368T	C2CD3	NM_001286577.2(C2CD3):c.5330C>A:p.Ala1777Glu	coding	Benign
11	74049641	A	G	A74049641G	C2CD3	NM_001286577.2(C2CD3):c.5156-99T>C	noncoding	Benign
11	74054407	T	A	T74054407A	C2CD3	NM_001286577.2(C2CD3):c.5155+200A>T	noncoding	Benign
11	74054449	T	C	T74054449C	C2CD3	NM_001286577.2(C2CD3):c.5155+158A>G	noncoding	Benign
11	74054686	A	C	A74054686C	C2CD3	NM_001286577.2(C2CD3):c.5091-15T>G	noncoding	Benign
11	74054742	G	A	G74054742A	C2CD3	NM_001286577.2(C2CD3):c.5091-71C>T	noncoding	Benign
11	74054767	T	C	T74054767C	C2CD3	NM_001286577.2(C2CD3):c.5091-96A>G	noncoding	Benign
11	74057112	C	G	C74057112G	C2CD3	NM_001286577.2(C2CD3):c.5090+294G>C	noncoding	Benign
11	74057180	G	A	G74057180A	C2CD3	NM_001286577.2(C2CD3):c.5090+226C>T	noncoding	Benign
11	74057508	C	T	C74057508T	C2CD3	NM_001286577.2(C2CD3):c.4988G>A:p.Ser1663Asn	coding	Benign
11	74074074	A	C	A74074074C	C2CD3	NM_001286577.2(C2CD3):c.4951+179T>G	noncoding	Benign
11	74074281	T	C	T74074281C	C2CD3	NM_001286577.2(C2CD3):c.4923A>G:p.Val1641=	coding	Benign
11	74074841	C	T	C74074841T	C2CD3	NM_001286577.2(C2CD3):c.4604-241G>A	noncoding	Benign
11	74077847	T	A	T74077847A	C2CD3	NM_001286577.2(C2CD3):c.4603+268A>T	noncoding	Benign
11	74077848	A	G	A74077848G	C2CD3	NM_001286577.2(C2CD3):c.4603+267T>C	noncoding	Benign
11	74077931	A	G	A74077931G	C2CD3	NM_001286577.2(C2CD3):c.4603+184T>C	noncoding	Benign
11	74078100	A	T	A74078100T	C2CD3	NM_001286577.2(C2CD3):c.4603+15T>A	noncoding	Benign
11	74078287	C	T	C74078287T	C2CD3	NM_001286577.2(C2CD3):c.4431G>A:p.Arg1477=	coding	Benign
11	74078729	A	G	A74078729G	C2CD3	NM_001286577.2(C2CD3):c.4001-12T>C	noncoding	Benign
11	74078732	T	G	T74078732G	C2CD3	NM_001286577.2(C2CD3):c.4001-15A>C	noncoding	Benign
11	74078832	C	T	C74078832T	C2CD3	NM_001286577.2(C2CD3):c.4001-115G>A	noncoding	Benign
11	74084728	A	C	A74084728C	C2CD3	NM_001286577.2(C2CD3):c.4000+153T>G	noncoding	Benign
11	74084741	A	T	A74084741T	C2CD3	NM_001286577.2(C2CD3):c.4000+140T>A	noncoding	Benign
11	74085563	T	C	T74085563C	C2CD3	NM_001286577.2(C2CD3):c.3910+55A>G	noncoding	Benign
11	74085638	T	C	T74085638C	C2CD3	NM_001286577.2(C2CD3):c.3890A>G:p.Tyr1297Cys	coding	Benign
11	74085872	C	T	C74085872T	C2CD3	NM_001286577.2(C2CD3):c.3656G>A:p.Arg1219Gln	coding	Benign
11	74086148	T	C	T74086148C	C2CD3	NM_001286577.2(C2CD3):c.3642-262A>G	noncoding	Benign
11	74090617	G	C	G74090617C	C2CD3	NM_001286577.2(C2CD3):c.3641+196C>G	noncoding	Benign
11	74090948	G	A	G74090948A	C2CD3	NM_001286577.2(C2CD3):c.3518-12C>T	noncoding	Benign
11	74094926	A	G	A74094926G	C2CD3	NM_001286577.2(C2CD3):c.3160+302T>C	noncoding	Benign
11	74094979	A	T	A74094979T	C2CD3	NM_001286577.2(C2CD3):c.3160+249T>A	noncoding	Benign
11	74095398	C	T	C74095398T	C2CD3	NM_001286577.2(C2CD3):c.2990G>A:p.Arg997Gln	coding	Benign
11	74098146	G	A	G74098146A	C2CD3	NM_001286577.2(C2CD3):c.2842C>T:p.Arg948Ter	coding	Pathogenic
11	74098211	A	G	A74098211G	C2CD3	NM_001286577.2(C2CD3):c.2777T>C:p.Val926Ala	coding	Benign
11	74098233	G	A	G74098233A	C2CD3	NM_001286577.2(C2CD3):c.2755C>T:p.Leu919=	coding	Benign
11	74100336	T	C	T74100336C	C2CD3	NM_001286577.2(C2CD3):c.2732+189A>G	noncoding	Benign
11	74100942	G	T	G74100942T	C2CD3	NM_001286577.2(C2CD3):c.2581-266C>A	noncoding	Benign
11	74103111	T	C	T74103111C	C2CD3	NM_001286577.2(C2CD3):c.2580+20A>G	noncoding	Benign
11	74103149	C	T	C74103149T	C2CD3	NM_001286577.2(C2CD3):c.2562G>A:p.Pro854=	coding	Benign
11	74103393	G	C	G74103393C	C2CD3	NM_001286577.2(C2CD3):c.2318C>G:p.Pro773Arg	coding	Benign
11	74103431	T	G	T74103431G	C2CD3	NM_001286577.2(C2CD3):c.2280A>C:p.Ala760=	coding	Benign
11	74103644	G	A	G74103644A	C2CD3	NM_001286577.2(C2CD3):c.2086-19C>T	noncoding	Benign
11	74106513	A	G	A74106513G	C2CD3	NM_001286577.2(C2CD3):c.1963-20T>C	noncoding	Benign
11	74109039	T	A	T74109039A	C2CD3	NM_001286577.2(C2CD3):c.1957A>T:p.Lys653Ter	coding	Pathogenic
11	74109135	G	A	G74109135A	C2CD3	NM_001286577.2(C2CD3):c.1861C>T:p.Arg621Ter	coding	Pathogenic
11	74109213	C	T	C74109213T	C2CD3	NM_001286577.2(C2CD3):c.1844-61G>A	noncoding	Benign
11	74114458	T	C	T74114458C	C2CD3	NM_001286577.2(C2CD3):c.1656A>G:p.Pro552=	coding	Benign
11	74114707	T	C	T74114707C	C2CD3	NM_001286577.2(C2CD3):c.1521-114A>G	noncoding	Benign
11	74122899	G	A	G74122899A	C2CD3	NM_001286577.2(C2CD3):c.1365+89C>T	noncoding	Benign
11	74132939	G	A	G74132939A	C2CD3	NM_001286577.2(C2CD3):c.1122C>T:p.Asp374=	coding	Benign
11	74133389	A	G	A74133389G	C2CD3	NM_001286577.2(C2CD3):c.1088+36T>C	noncoding	Benign
11	74138709	T	C	T74138709C	C2CD3	NM_001286577.2(C2CD3):c.955+11A>G	noncoding	Benign
11	74138729	G	C	G74138729C	C2CD3	NM_001286577.2(C2CD3):c.946C>G:p.Leu316Val	coding	Benign
11	74138957	G	C	G74138957C	C2CD3	NM_001286577.2(C2CD3):c.718C>G:p.His240Asp	coding	Benign
11	74139928	C	G	C74139928G	C2CD3	NM_001286577.2(C2CD3):c.484-100G>C	noncoding	Benign
11	74161623	T	C	T74161623C	C2CD3	NM_001286577.2(C2CD3):c.326-67A>G	noncoding	Benign
11	74168702	A	C	A74168702C	C2CD3	NM_001286577.2(C2CD3):c.56-89T>G	noncoding	Benign
11	74170535	T	A	T74170535A	C2CD3	NM_001286577.2(C2CD3):c.55+203A>T	noncoding	Benign
11	74170832	C	A	C74170832A	C2CD3	NM_001286577.2(C2CD3):c.-40G>T	noncoding	Benign
11	74171215	T	G	T74171215G	C2CD3	Single_allele	noncoding	Benign
11	74336638	A	G	A74336638G	PGM2L1	NM_173582.6(PGM2L1):c.*14T>C	noncoding	Benign
11	74338524	A	G	A74338524G	PGM2L1	NM_173582.6(PGM2L1):c.1710T>C:p.Ser570=	coding	Benign
11	74338763	G	A	G74338763A	PGM2L1	NM_173582.6(PGM2L1):c.1633-162C>T	noncoding	Benign
11	74342502	C	T	C74342502T	PGM2L1	NM_173582.6(PGM2L1):c.1591G>A:p.Val531Ile	coding	Benign
11	74343130	A	G	A74343130G	PGM2L1	NM_173582.6(PGM2L1):c.1313-116T>C	noncoding	Benign
11	74343301	G	T	G74343301T	PGM2L1	NM_173582.6(PGM2L1):c.1312+22C>A	noncoding	Benign
11	74346602	T	C	T74346602C	PGM2L1	NM_173582.6(PGM2L1):c.1037+130A>G	noncoding	Benign
11	74346886	C	T	C74346886T	PGM2L1	NM_173582.6(PGM2L1):c.940-57G>A	noncoding	Benign
11	74351776	C	T	C74351776T	PGM2L1	NM_173582.6(PGM2L1):c.556-200G>A	noncoding	Benign
11	74368430	A	G	A74368430G	PGM2L1	NM_173582.6(PGM2L1):c.555+62T>C	noncoding	Benign
11	74368455	C	T	C74368455T	PGM2L1	NM_173582.6(PGM2L1):c.555+37G>A	noncoding	Benign
11	74371566	T	G	T74371566G	PGM2L1	NM_173582.6(PGM2L1):c.386+145A>C	noncoding	Benign
11	74371681	A	G	A74371681G	PGM2L1	NM_173582.6(PGM2L1):c.386+30T>C	noncoding	Benign
11	74397905	G	A	G74397905A	PGM2L1	NM_173582.6(PGM2L1):c.111+146C>T	noncoding	Benign
11	74398121	A	G	A74398121G	PGM2L1	NM_173582.6(PGM2L1):c.41T>C:p.Leu14Pro	coding	Benign
11	74457172	T	C	T74457172C	KCNE3	NM_005472.4(KCNE3):c.*80A>G	noncoding	Benign
11	74467162	C	A	C74467162A	KCNE3	NM_005472.5(KCNE3):c.-190+236G>T	noncoding	Benign
11	74467279	C	A	C74467279A	KCNE3	NM_005472.5(KCNE3):c.-190+119G>T	noncoding	Benign
11	74467446	C	T	C74467446T	KCNE3	NM_005472.4(KCNE3):c.-238G>A	noncoding	Benign
11	74467452	C	T	C74467452T	KCNE3	NM_005472.5(KCNE3):c.-244G>A	noncoding	Benign
11	74467453	T	C	T74467453C	KCNE3	NM_005472.5(KCNE3):c.-245A>G	noncoding	Benign
11	74491959	G	A	G74491959A	LIPT2	NM_001144869.3(LIPT2):c.*176C>T	noncoding	Benign
11	74492211	T	A	T74492211A	LIPT2	NM_001144869.3(LIPT2):c.620A>T:p.Glu207Val	coding	Benign
11	74492263	T	A	T74492263A	LIPT2	NM_001144869.3(LIPT2):c.568A>T:p.Thr190Ser	coding	Benign
11	74493008	A	C	A74493008C	LIPT2	NM_001144869.3(LIPT2):c.466+230T>G	noncoding	Benign
11	74493153	G	A	G74493153A	LIPT2	NM_001144869.3(LIPT2):c.466+85C>T	noncoding	Benign
11	74493224	T	G	T74493224G	LIPT2	NM_001144869.3(LIPT2):c.466+14A>C	noncoding	Benign
11	74493431	G	A	G74493431A	LIPT2	NM_001144869.3(LIPT2):c.273C>T:p.Phe91=	coding	Benign
11	74493546	G	A	G74493546A	LIPT2	NM_001144869.3(LIPT2):c.158C>T:p.Ala53Val	coding	Benign
11	74493682	A	G	A74493682G	LIPT2	NM_001144869.3(LIPT2):c.22T>C:p.Leu8=	coding	Benign
11	75561608	C	T	C75561608T	SERPINH1	NG_012052.1:g.4484C>T	noncoding	Pathogenic
11	75566537	C	T	C75566537T	SERPINH1	NM_001235.5(SERPINH1):c.188C>T:p.Ala63Val	coding	Benign/Likely_benign
11	75566715	G	C	G75566715C	SERPINH1	NM_001235.5(SERPINH1):c.366G>C:p.Thr122=	coding	Benign
11	75567247	A	G	A75567247G	SERPINH1	NM_001235.5(SERPINH1):c.622+276A>G	noncoding	Benign
11	75568926	G	A	G75568926A	SERPINH1	NM_001235.5(SERPINH1):c.722-13G>A	noncoding	Benign/Likely_benign
11	75586759	C	A	C75586759A	MAP6	Single_allele	noncoding	Benign
11	75586839	C	T	C75586839T	MAP6	Single_allele	noncoding	Benign
11	75587752	A	G	A75587752G	MAP6	NM_033063.2(MAP6):c.1749T>C:p.Asp583=	coding	Benign
11	75606128	G	A	G75606128A	MAP6	NM_033063.2(MAP6):c.1120-124C>T	noncoding	Benign
11	75667629	A	C	A75667629C	MAP6	NM_033063.2(MAP6):c.741T>G:p.Ile247Met	coding	Benign
11	75798307	G	A	G75798307A	DGAT2	NM_032564.5(DGAT2):c.890G>A:p.Arg297Gln	coding	Benign
11	76861021	C	T	C76861021T	ACER3	NM_018367.7(ACER3):c.45C>T:p.Thr15=	coding	Benign
11	76926600	C	T	C76926600T	ACER3	NM_018367.7(ACER3):c.147C>T:p.Phe49=	coding	Benign
11	76926607	G	A	G76926607A	ACER3	NM_018367.7(ACER3):c.154G>A:p.Val52Ile	coding	Benign
11	76926636	G	A	G76926636A	ACER3	NM_018367.7(ACER3):c.183G>A:p.Lys61=	coding	Benign
11	76926686	C	G	C76926686G	ACER3	NM_018367.7(ACER3):c.214+19C>G	noncoding	Benign
11	76976355	A	C	A76976355C	ACER3	NM_018367.7(ACER3):c.320+14A>C	noncoding	Benign
11	76990562	G	A	G76990562A	ACER3	NM_018367.7(ACER3):c.426G>A:p.Pro142=	coding	Benign
11	76998751	G	A	G76998751A	ACER3	NM_018367.7(ACER3):c.439-12G>A	noncoding	Benign
11	77015084	G	A	G77015084A	ACER3	NM_018367.7(ACER3):c.566G>A:p.Trp189Ter	coding	Pathogenic
11	77020256	T	C	T77020256C	ACER3	NM_018367.7(ACER3):c.751-18T>C	noncoding	Benign
11	77084907	C	G	C77084907G	CAPN5	NM_004055.5(CAPN5):c.21C>G:p.Pro7=	coding	Benign
11	77084939	G	A	G77084939A	CAPN5	NM_004055.5(CAPN5):c.53G>A:p.Arg18Gln	coding	Benign
11	77085031	G	A	G77085031A	CAPN5	NM_004055.5(CAPN5):c.145G>A:p.Val49Ile	coding	Benign
11	77093678	G	A	G77093678A	CAPN5	NM_004055.5(CAPN5):c.166-4G>A	noncoding	Benign
11	77093683	G	A	G77093683A	CAPN5	NM_004055.5(CAPN5):c.167G>A:p.Gly56Asp	coding	Benign
11	77093729	C	T	C77093729T	CAPN5	NM_004055.5(CAPN5):c.213C>T:p.His71=	coding	Benign
11	77093825	G	T	G77093825T	CAPN5	NM_004055.5(CAPN5):c.297+12G>T	noncoding	Benign
11	77112574	C	G	C77112574G	CAPN5	NM_004055.5(CAPN5):c.298-15C>G	noncoding	Benign
11	77112580	C	G	C77112580G	CAPN5	NM_004055.5(CAPN5):c.298-9C>G	noncoding	Benign
11	77112627	A	G	A77112627G	CAPN5	NM_004055.5(CAPN5):c.336A>G:p.Glu112=	coding	Benign
11	77112699	C	T	C77112699T	CAPN5	NM_004055.5(CAPN5):c.408C>T:p.Ile136=	coding	Benign
11	77114317	T	C	T77114317C	CAPN5	NM_004055.5(CAPN5):c.582T>C:p.Ser194=	coding	Benign
11	77114353	C	T	C77114353T	CAPN5	NM_004055.5(CAPN5):c.618C>T:p.Asn206=	coding	Benign
11	77115387	C	T	C77115387T	CAPN5	NM_004055.5(CAPN5):c.700-8C>T	noncoding	Benign
11	77115574	G	A	G77115574A	CAPN5	NM_004055.5(CAPN5):c.879G>A:p.Gly293=	coding	Benign
11	77116221	C	G	C77116221G	CAPN5	NM_004055.5(CAPN5):c.894-5C>G	noncoding	Benign
11	77118208	C	T	C77118208T	CAPN5	NM_004055.5(CAPN5):c.1023C>T:p.Arg341=	coding	Benign
11	77119169	C	A	C77119169A	CAPN5	NM_004055.5(CAPN5):c.1290+17C>A	noncoding	Benign
11	77119172	C	T	C77119172T	CAPN5	NM_004055.5(CAPN5):c.1290+20C>T	noncoding	Benign
11	77120701	C	T	C77120701T	CAPN5	NM_004055.5(CAPN5):c.1291-12C>T	noncoding	Benign
11	77120702	G	A	G77120702A	CAPN5	NM_004055.5(CAPN5):c.1291-11G>A	noncoding	Benign
11	77120848	G	A	G77120848A	CAPN5	NM_004055.5(CAPN5):c.1426G>A:p.Glu476Lys	coding	Benign
11	77122717	G	C	G77122717C	CAPN5	NM_004055.5(CAPN5):c.1740+5G>C	noncoding	Benign
11	77122732	G	A	G77122732A	CAPN5	NM_004055.5(CAPN5):c.1740+20G>A	noncoding	Benign
11	77123774	C	T	C77123774T	CAPN5	NM_004055.5(CAPN5):c.1827C>T:p.Thr609=	coding	Benign
11	77123791	G	A	G77123791A	CAPN5	NM_004055.5(CAPN5):c.1844G>A:p.Arg615Gln	coding	Benign
11	77123841	C	A	C77123841A	CAPN5	NM_004055.5(CAPN5):c.1894C>A:p.Leu632Ile	coding	Benign/Likely_benign
11	77130637	G	A	G77130637A	MYO7A	NM_000260.4(MYO7A):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
11	77142745	G	T	G77142745T	MYO7A	NM_000260.4(MYO7A):c.55G>T:p.Glu19Ter	coding	Pathogenic
11	77142799	C	T	C77142799T	MYO7A	NM_000260.4(MYO7A):c.109C>T:p.Gln37Ter	coding	Pathogenic/Likely_pathogenic
11	77142955	C	G	C77142955G	MYO7A	NM_000260.4(MYO7A):c.132+133C>G	noncoding	Benign
11	77143158	C	T	C77143158T	MYO7A	NM_000260.4(MYO7A):c.132+336C>T	noncoding	Benign
11	77147616	T	C	T77147616C	MYO7A	NM_000260.4(MYO7A):c.133-182T>C	noncoding	Benign
11	77147670	C	G	C77147670G	MYO7A	NM_000260.4(MYO7A):c.133-128C>G	noncoding	Benign
11	77147710	C	T	C77147710T	MYO7A	NM_000260.4(MYO7A):c.133-88C>T	noncoding	Benign
11	77147781	G	A	G77147781A	MYO7A	NM_000260.4(MYO7A):c.133-17G>A	noncoding	Benign
11	77148023	C	T	C77148023T	MYO7A	NM_000260.4(MYO7A):c.285+73C>T	noncoding	Benign
11	77155661	T	C	T77155661C	MYO7A	NM_000260.4(MYO7A):c.286-246T>C	noncoding	Benign
11	77155945	C	A	C77155945A	MYO7A	NM_000260.4(MYO7A):c.324C>A:p.Tyr108Ter	coding	Pathogenic
11	77155997	A	T	A77155997T	MYO7A	NM_000260.4(MYO7A):c.376A>T:p.Lys126Ter	coding	Pathogenic
11	77156018	C	T	C77156018T	MYO7A	NM_000260.4(MYO7A):c.397C>T:p.His133Tyr	coding	Pathogenic/Likely_pathogenic
11	77156676	G	A	G77156676A	MYO7A	NM_000260.4(MYO7A):c.487G>A:p.Gly163Arg	coding	Pathogenic/Likely_pathogenic
11	77156706	C	T	C77156706T	MYO7A	NM_000260.4(MYO7A):c.517C>T:p.Gln173Ter	coding	Pathogenic/Likely_pathogenic
11	77156990	C	T	C77156990T	MYO7A	NM_000260.4(MYO7A):c.721C>T:p.Arg241Cys	coding	Pathogenic/Likely_pathogenic
11	77157002	C	T	C77157002T	MYO7A	NM_000260.4(MYO7A):c.733C>T:p.Gln245Ter	coding	Pathogenic
11	77157277	A	T	A77157277T	MYO7A	NM_000260.4(MYO7A):c.736-2A>T	noncoding	Pathogenic
11	77157339	C	T	C77157339T	MYO7A	NM_000260.4(MYO7A):c.796C>T:p.Gln266Ter	coding	Pathogenic/Likely_pathogenic
11	77157393	G	A	G77157393A	MYO7A	NM_000260.4(MYO7A):c.849+1G>A	coding	Pathogenic
11	77157393	G	C	G77157393C	MYO7A	NM_000260.4(MYO7A):c.849+1G>C	coding	Pathogenic
11	77157394	T	C	T77157394C	MYO7A	NM_000260.4(MYO7A):c.849+2T>C	noncoding	Pathogenic
11	77157720	G	A	G77157720A	MYO7A	NM_000260.4(MYO7A):c.849+328G>A	noncoding	Benign
11	77158295	G	T	G77158295T	MYO7A	NM_000260.4(MYO7A):c.868G>T:p.Glu290Ter	coding	Pathogenic
11	77158431	G	A	G77158431A	MYO7A	NM_000260.4(MYO7A):c.1003+1G>A	coding	Pathogenic
11	77158609	G	A	G77158609A	MYO7A	NM_000260.4(MYO7A):c.1003+179G>A	noncoding	Benign
11	77159407	A	C	A77159407C	MYO7A	NM_000260.4(MYO7A):c.1004-40A>C	noncoding	Benign
11	77159411	T	C	T77159411C	MYO7A	NM_000260.4(MYO7A):c.1004-36T>C	noncoding	Benign
11	77159524	G	A	G77159524A	MYO7A	NM_000260.4(MYO7A):c.1080+1G>A	coding	Pathogenic
11	77160179	T	C	T77160179C	MYO7A	NM_000260.4(MYO7A):c.1097T>C:p.Leu366Pro	coding	Pathogenic/Likely_pathogenic
11	77160999	G	A	G77160999A	MYO7A	NM_000260.4(MYO7A):c.1227G>A:p.Trp409Ter	coding	Pathogenic
11	77161236	G	A	G77161236A	MYO7A	NM_000260.4(MYO7A):c.1343+121G>A	noncoding	Benign
11	77162092	C	A	C77162092A	MYO7A	NM_000260.4(MYO7A):c.1344-28C>A	noncoding	Benign
11	77162135	C	A	C77162135A	MYO7A	NM_000260.4(MYO7A):c.1359C>A:p.Cys453Ter	coding	Pathogenic
11	77163274	C	T	C77163274T	MYO7A	NM_000260.4(MYO7A):c.1690+286C>T	noncoding	Benign
11	77165861	T	C	T77165861C	MYO7A	NM_000260.4(MYO7A):c.1691-195T>C	noncoding	Benign
11	77166217	A	G	A77166217G	MYO7A	NM_000260.4(MYO7A):c.1797+55A>G	noncoding	Benign
11	77172835	C	T	C77172835T	MYO7A	NM_000260.4(MYO7A):c.1885C>T:p.Gln629Ter	coding	Pathogenic/Likely_pathogenic
11	77172868	G	T	G77172868T	MYO7A	NM_000260.4(MYO7A):c.1918G>T:p.Glu640Ter	coding	Pathogenic
11	77172886	G	A	G77172886A	MYO7A	NM_000260.4(MYO7A):c.1935+1G>A	coding	Pathogenic
11	77173177	T	C	T77173177C	MYO7A	NM_000260.4(MYO7A):c.1935+292T>C	noncoding	Benign
11	77175076	G	A	G77175076A	MYO7A	NM_000260.4(MYO7A):c.2094+162G>A	noncoding	Benign
11	77175260	G	C	G77175260C	MYO7A	NM_000260.4(MYO7A):c.2095-112G>C	noncoding	Benign
11	77177820	T	C	T77177820C	MYO7A	NM_000260.4(MYO7A):c.2282+177T>C	noncoding	Benign
11	77179025	C	T	C77179025T	MYO7A	NM_000260.4(MYO7A):c.2283-20C>T	noncoding	Benign
11	77179026	G	A	G77179026A	MYO7A	NM_000260.4(MYO7A):c.2283-19G>A	noncoding	Benign
11	77179130	G	A	G77179130A	MYO7A	NM_000260.4(MYO7A):c.2367+1G>A	coding	Pathogenic
11	77179766	T	C	T77179766C	MYO7A	NM_000260.4(MYO7A):c.2399T>C:p.Leu800Pro	coding	Pathogenic
11	77179880	G	A	G77179880A	MYO7A	NM_000260.4(MYO7A):c.2513G>A:p.Trp838Ter	coding	Pathogenic
11	77179924	C	T	C77179924T	MYO7A	NM_000260.4(MYO7A):c.2557C>T:p.Arg853Cys	coding	Pathogenic
11	77179936	C	T	C77179936T	MYO7A	NM_000260.4(MYO7A):c.2569C>T:p.Gln857Ter	coding	Pathogenic
11	77180018	C	T	C77180018T	MYO7A	NM_000260.4(MYO7A):c.2586+65C>T	noncoding	Benign
11	77180675	G	C	G77180675C	MYO7A	NM_000260.4(MYO7A):c.2694+194G>C	noncoding	Benign
11	77181133	G	A	G77181133A	MYO7A	NM_000260.4(MYO7A):c.2695-247G>A	noncoding	Benign
11	77181292	T	C	T77181292C	MYO7A	NM_000260.4(MYO7A):c.2695-88T>C	noncoding	Benign
11	77181371	A	G	A77181371G	MYO7A	NM_000260.4(MYO7A):c.2695-9A>G	noncoding	Pathogenic
11	77181522	T	G	T77181522G	MYO7A	NM_000260.4(MYO7A):c.2837T>G:p.Met946Arg	coding	Pathogenic/Likely_pathogenic
11	77181548	G	A	G77181548A	MYO7A	NM_000260.4(MYO7A):c.2863G>A:p.Gly955Ser	coding	Pathogenic/Likely_pathogenic
11	77181560	C	T	C77181560T	MYO7A	NM_000260.4(MYO7A):c.2875C>T:p.Gln959Ter	coding	Pathogenic
11	77181563	G	T	G77181563T	MYO7A	NM_000260.4(MYO7A):c.2878G>T:p.Glu960Ter	coding	Pathogenic/Likely_pathogenic
11	77181731	G	A	G77181731A	MYO7A	NM_000260.4(MYO7A):c.2904+142G>A	noncoding	Benign
11	77182043	T	A	T77182043A	MYO7A	NM_000260.4(MYO7A):c.2997T>A:p.Tyr999Ter	coding	Pathogenic
11	77182486	C	G	C77182486G	MYO7A	NM_000260.4(MYO7A):c.3171C>G:p.Tyr1057Ter	coding	Pathogenic
11	77182564	C	A	C77182564A	MYO7A	NM_000260.4(MYO7A):c.3249C>A:p.Tyr1083Ter	coding	Pathogenic
11	77182577	C	T	C77182577T	MYO7A	NM_000260.4(MYO7A):c.3262C>T:p.Gln1088Ter	coding	Pathogenic/Likely_pathogenic
11	77183071	C	T	C77183071T	MYO7A	NM_000260.4(MYO7A):c.3289C>T:p.Gln1097Ter	coding	Pathogenic
11	77183080	G	T	G77183080T	MYO7A	NM_000260.4(MYO7A):c.3298G>T:p.Glu1100Ter	coding	Pathogenic/Likely_pathogenic
11	77183086	C	T	C77183086T	MYO7A	NM_000260.4(MYO7A):c.3304C>T:p.Gln1102Ter	coding	Pathogenic
11	77183418	C	T	C77183418T	MYO7A	NM_000260.4(MYO7A):c.3375+261C>T	noncoding	Benign
11	77184395	C	T	C77184395T	MYO7A	NM_000260.4(MYO7A):c.3376-193C>T	noncoding	Benign
11	77184688	G	T	G77184688T	MYO7A	NM_000260.4(MYO7A):c.3476G>T:p.Gly1159Val	coding	Pathogenic/Likely_pathogenic
11	77189416	G	A	G77189416A	MYO7A	NM_000260.4(MYO7A):c.3576G>A:p.Trp1192Ter	coding	Pathogenic/Likely_pathogenic
11	77189468	A	T	A77189468T	MYO7A	NM_000260.4(MYO7A):c.3628A>T:p.Lys1210Ter	coding	Pathogenic
11	77190107	C	T	C77190107T	MYO7A	NM_000260.4(MYO7A):c.3718C>T:p.Arg1240Trp	coding	Pathogenic/Likely_pathogenic
11	77190808	G	C	G77190808C	MYO7A	NM_000260.4(MYO7A):c.3862G>C:p.Ala1288Pro	coding	Pathogenic/Likely_pathogenic
11	77190871	G	C	G77190871C	MYO7A	NM_000260.4(MYO7A):c.3924+1G>C	coding	Pathogenic/Likely_pathogenic
11	77190909	C	A	C77190909A	MYO7A	NM_000260.4(MYO7A):c.3924+39C>A	noncoding	Benign
11	77190957	G	A	G77190957A	MYO7A	NM_000260.4(MYO7A):c.3924+87G>A	noncoding	Benign
11	77191988	G	A	G77191988A	MYO7A	NM_000260.4(MYO7A):c.3925-63G>A	noncoding	Benign
11	77192105	G	A	G77192105A	MYO7A	NM_000260.4(MYO7A):c.3979G>A:p.Glu1327Lys	coding	Pathogenic/Likely_pathogenic
11	77192200	C	A	C77192200A	MYO7A	NM_000260.4(MYO7A):c.4074C>A:p.Ser1358=	coding	Benign
11	77194078	A	G	A77194078G	MYO7A	NM_000260.4(MYO7A):c.4153-276A>G	noncoding	Benign
11	77194408	G	T	G77194408T	MYO7A	NM_000260.4(MYO7A):c.4207G>T:p.Glu1403Ter	coding	Pathogenic
11	77194489	A	T	A77194489T	MYO7A	NM_000260.4(MYO7A):c.4288A>T:p.Lys1430Ter	coding	Pathogenic
11	77194498	C	T	C77194498T	MYO7A	NM_000260.4(MYO7A):c.4297C>T:p.Gln1433Ter	coding	Pathogenic
11	77194526	T	C	T77194526C	MYO7A	NM_000260.4(MYO7A):c.4323+2T>C	noncoding	Pathogenic
11	77194536	G	A	G77194536A	MYO7A	NM_000260.4(MYO7A):c.4323+12G>A	noncoding	Benign/Likely_benign
11	77194607	G	A	G77194607A	MYO7A	NM_000260.4(MYO7A):c.4323+83G>A	noncoding	Benign
11	77197579	T	G	T77197579G	MYO7A	NM_000260.4(MYO7A):c.4422T>G:p.Tyr1474Ter	coding	Pathogenic
11	77197687	T	C	T77197687C	MYO7A	NM_000260.4(MYO7A):c.4441+89T>C	noncoding	Benign/Likely_benign
11	77197746	A	G	A77197746G	MYO7A	NM_000260.4(MYO7A):c.4441+148A>G	noncoding	Benign
11	77197793	G	A	G77197793A	MYO7A	NM_000260.4(MYO7A):c.4441+195G>A	noncoding	Benign
11	77197900	A	C	A77197900C	MYO7A	NM_000260.4(MYO7A):c.4441+302A>C	noncoding	Benign
11	77198097	C	T	C77198097T	MYO7A	NM_000260.4(MYO7A):c.4442-398C>T	noncoding	Benign
11	77198425	G	A	G77198425A	MYO7A	NM_000260.4(MYO7A):c.4442-70G>A	noncoding	Benign
11	77198494	G	C	G77198494C	MYO7A	NM_000260.4(MYO7A):c.4442-1G>C	noncoding	Pathogenic/Likely_pathogenic
11	77198793	G	C	G77198793C	MYO7A	NM_000260.4(MYO7A):c.4568+172G>C	noncoding	Benign
11	77199640	G	A	G77199640A	MYO7A	NM_000260.4(MYO7A):c.4674G>A:p.Trp1558Ter	coding	Pathogenic
11	77201361	A	C	A77201361C	MYO7A	NM_000260.4(MYO7A):c.4853-87A>C	noncoding	Benign
11	77201538	G	A	G77201538A	MYO7A	NM_000260.4(MYO7A):c.4943G>A:p.Trp1648Ter	coding	Pathogenic
11	77201567	C	T	C77201567T	MYO7A	NM_000260.4(MYO7A):c.4972C>T:p.Gln1658Ter	coding	Pathogenic/Likely_pathogenic
11	77201769	A	G	A77201769G	MYO7A	NM_000260.4(MYO7A):c.5043+131A>G	noncoding	Benign
11	77202330	C	T	C77202330T	MYO7A	NM_000260.4(MYO7A):c.5074C>T:p.Gln1692Ter	coding	Pathogenic
11	77202351	C	T	C77202351T	MYO7A	NM_000260.4(MYO7A):c.5095C>T:p.Gln1699Ter	coding	Pathogenic/Likely_pathogenic
11	77202742	G	A	G77202742A	MYO7A	NM_000260.4(MYO7A):c.5168+318G>A	noncoding	Benign
11	77202871	G	A	G77202871A	MYO7A	NM_000260.4(MYO7A):c.5169-189G>A	noncoding	Benign
11	77203191	C	A	C77203191A	MYO7A	NM_000260.4(MYO7A):c.5300C>A:p.Ser1767Ter	coding	Pathogenic
11	77203307	G	A	G77203307A	MYO7A	NM_000260.4(MYO7A):c.5326+90G>A	noncoding	Benign
11	77203651	G	C	G77203651C	MYO7A	NM_000260.4(MYO7A):c.5327-425G>C	noncoding	Benign
11	77203670	G	T	G77203670T	MYO7A	NM_000260.4(MYO7A):c.5327-406G>T	noncoding	Benign
11	77203848	A	G	A77203848G	MYO7A	NM_000260.4(MYO7A):c.5327-228A>G	noncoding	Benign
11	77203903	A	G	A77203903G	MYO7A	NM_000260.4(MYO7A):c.5327-173A>G	noncoding	Benign
11	77204177	A	T	A77204177T	MYO7A	NM_000260.4(MYO7A):c.5428A>T:p.Lys1810Ter	coding	Pathogenic
11	77204183	G	A	G77204183A	MYO7A	NM_000260.4(MYO7A):c.5434G>A:p.Glu1812Lys	coding	Pathogenic/Likely_pathogenic
11	77204191	T	G	T77204191G	MYO7A	NM_000260.4(MYO7A):c.5442T>G:p.Tyr1814Ter	coding	Pathogenic
11	77204249	C	T	C77204249T	MYO7A	NM_000260.4(MYO7A):c.5480+20C>T	noncoding	Benign
11	77205419	C	T	C77205419T	MYO7A	NM_000260.4(MYO7A):c.5481-43C>T	noncoding	Benign
11	77205483	G	A	G77205483A	MYO7A	NM_000260.4(MYO7A):c.5502G>A:p.Trp1834Ter	coding	Pathogenic
11	77205491	T	A	T77205491A	MYO7A	NM_000260.4(MYO7A):c.5510T>A:p.Leu1837His	coding	Pathogenic
11	77205604	C	T	C77205604T	MYO7A	NM_000260.4(MYO7A):c.5623C>T:p.Gln1875Ter	coding	Pathogenic
11	77206061	C	T	C77206061T	MYO7A	NM_000260.4(MYO7A):c.5637-36C>T	noncoding	Benign
11	77206107	C	T	C77206107T	MYO7A	NM_000260.4(MYO7A):c.5647C>T:p.Arg1883Trp	coding	Pathogenic/Likely_pathogenic
11	77207460	C	T	C77207460T	MYO7A	NM_000260.4(MYO7A):c.5856+58C>T	noncoding	Benign
11	77208134	G	A	G77208134A	MYO7A	NM_000260.4(MYO7A):c.5857-296G>A	noncoding	Benign
11	77208719	C	A	C77208719A	MYO7A	NM_000260.4(MYO7A):c.5967C>A:p.Tyr1989Ter	coding	Pathogenic/Likely_pathogenic
11	77208801	C	T	C77208801T	MYO7A	NM_000260.4(MYO7A):c.6049C>T:p.Gln2017Ter	coding	Pathogenic
11	77208805	T	C	T77208805C	MYO7A	NM_000260.4(MYO7A):c.6051+2T>C	noncoding	Pathogenic
11	77208901	C	A	C77208901A	MYO7A	NM_000260.4(MYO7A):c.6051+98C>A	noncoding	Benign
11	77208933	C	T	C77208933T	MYO7A	NM_000260.4(MYO7A):c.6051+130C>T	noncoding	Benign
11	77211226	C	G	C77211226G	MYO7A	NM_000260.4(MYO7A):c.6126C>G:p.Tyr2042Ter	coding	Pathogenic
11	77211284	G	T	G77211284T	MYO7A	NM_000260.4(MYO7A):c.6184G>T:p.Glu2062Ter	coding	Pathogenic/Likely_pathogenic
11	77211296	C	T	C77211296T	MYO7A	NM_000260.4(MYO7A):c.6196C>T:p.Gln2066Ter	coding	Pathogenic/Likely_pathogenic
11	77211332	A	T	A77211332T	MYO7A	NM_000260.4(MYO7A):c.6232A>T:p.Lys2078Ter	coding	Pathogenic
11	77211972	G	A	G77211972A	MYO7A	NM_000260.4(MYO7A):c.6354+35G>A	noncoding	Benign/Likely_benign
11	77212143	C	A	C77212143A	MYO7A	NM_000260.4(MYO7A):c.6354+206C>A	noncoding	Benign
11	77213753	G	A	G77213753A	MYO7A	NM_000260.4(MYO7A):c.6439-107G>A	noncoding	Benign
11	77213972	C	T	C77213972T	MYO7A	NM_000260.4(MYO7A):c.6551C>T:p.Thr2184Met	coding	Pathogenic
11	77214004	A	G	A77214004G	MYO7A	NM_000260.4(MYO7A):c.6558+25A>G	noncoding	Benign
11	77214217	A	G	A77214217G	MYO7A	NM_000260.4(MYO7A):c.6558+238A>G	noncoding	Benign
11	77214227	C	T	C77214227T	MYO7A	NM_000260.4(MYO7A):c.6558+248C>T	noncoding	Benign
11	77214327	A	G	A77214327G	MYO7A	NM_000260.4(MYO7A):c.6559-280A>G	noncoding	Benign
11	77214352	G	C	G77214352C	MYO7A	NM_000260.4(MYO7A):c.6559-255G>C	noncoding	Benign
11	77214564	T	C	T77214564C	MYO7A	NM_000260.4(MYO7A):c.6559-43T>C	noncoding	Benign
11	77214581	G	A	G77214581A	MYO7A	NM_000260.4(MYO7A):c.6559-26G>A	noncoding	Benign
11	77340638	G	C	G77340638C	PAK1	NM_002576.5(PAK1):c.1116+8C>G	noncoding	Benign
11	77340775	C	T	C77340775T	PAK1	NM_002576.5(PAK1):c.999-12G>A	noncoding	Benign
11	77379319	G	A	G77379319A	PAK1	NM_002576.5(PAK1):c.361C>T:p.Pro121Ser	coding	Pathogenic/Likely_pathogenic
11	78100680	T	C	T78100680C	ALG8	Single_allele	noncoding	Benign
11	78100817	C	T	C78100817T	ALG8	Single_allele	noncoding	Benign
11	78100847	T	C	T78100847C	ALG8	Single_allele	noncoding	Benign
11	78101277	T	A	T78101277A	ALG8	NM_024079.5(ALG8):c.1350-82A>T	noncoding	Benign
11	78104150	C	T	C78104150T	ALG8	NM_024079.5(ALG8):c.1277-98G>A	noncoding	Benign
11	78104730	G	A	G78104730A	ALG8	NM_024079.5(ALG8):c.1179-277C>T	noncoding	Benign
11	78106573	A	G	A78106573G	ALG8	NM_024079.5(ALG8):c.1178+234T>C	noncoding	Benign
11	78109122	T	C	T78109122C	ALG8	NM_024079.5(ALG8):c.1038+320A>G	noncoding	Benign
11	78112511	G	A	G78112511A	ALG8	NM_024079.5(ALG8):c.898+139C>T	noncoding	Benign
11	78112614	A	G	A78112614G	ALG8	NM_024079.5(ALG8):c.898+36T>C	noncoding	Benign
11	78112746	G	A	G78112746A	ALG8	NM_024079.5(ALG8):c.802C>T:p.Arg268Ter	coding	Pathogenic
11	78112998	C	A	C78112998A	ALG8	NM_024079.5(ALG8):c.778-228G>T	noncoding	Benign
11	78113699	T	C	T78113699C	ALG8	NM_024079.5(ALG8):c.777+187A>G	noncoding	Benign
11	78113722	C	A	C78113722A	ALG8	NM_024079.5(ALG8):c.777+164G>T	noncoding	Benign
11	78113978	G	A	G78113978A	ALG8	NM_024079.5(ALG8):c.685C>T:p.Arg229Ter	coding	Pathogenic
11	78114020	G	A	G78114020A	ALG8	NM_024079.5(ALG8):c.674-31C>T	noncoding	Benign
11	78114462	A	G	A78114462G	ALG8	NM_024079.5(ALG8):c.547-70T>C	noncoding	Benign
11	78114596	A	G	A78114596G	ALG8	NM_024079.5(ALG8):c.547-204T>C	noncoding	Benign
11	78114651	C	T	C78114651T	ALG8	NM_024079.5(ALG8):c.547-259G>A	noncoding	Benign
11	78119002	G	A	G78119002A	ALG8	NM_024079.5(ALG8):c.546+180C>T	noncoding	Benign
11	78119249	T	A	T78119249A	ALG8	NM_024079.5(ALG8):c.479A>T:p.His160Leu	coding	Pathogenic
11	78121423	T	G	T78121423G	ALG8	NM_024079.5(ALG8):c.369-249A>C	noncoding	Benign
11	78123948	G	A	G78123948A	ALG8	NM_024079.5(ALG8):c.368+73C>T	noncoding	Benign
11	78124232	G	T	G78124232T	ALG8	NM_024079.5(ALG8):c.175-18C>A	noncoding	Benign/Likely_benign
11	78124453	C	G	C78124453G	ALG8	NM_024079.5(ALG8):c.175-239G>C	noncoding	Benign
11	78127634	C	T	C78127634T	ALG8	NM_024079.5(ALG8):c.96-198G>A	noncoding	Benign
11	78127699	C	T	C78127699T	ALG8	NM_024079.5(ALG8):c.96-263G>A	noncoding	Benign
11	78139757	G	T	G78139757T	ALG8	Single_allele	noncoding	Benign
11	78139763	C	T	C78139763T	ALG8	Single_allele	noncoding	Benign
11	78139778	C	T	C78139778T	ALG8	Single_allele	noncoding	Benign
11	78436471	G	A	G78436471A	NARS2	NM_024678.6(NARS2):c.*199C>T	noncoding	Benign
11	78436666	C	T	C78436666T	NARS2	NM_024678.6(NARS2):c.*4G>A	noncoding	Benign
11	78437024	T	C	T78437024C	NARS2	NM_024678.6(NARS2):c.1290-210A>G	noncoding	Benign
11	78440842	A	G	A78440842G	NARS2	NM_024678.6(NARS2):c.1289+249T>C	noncoding	Benign
11	78443564	G	A	G78443564A	NARS2	NM_024678.6(NARS2):c.1262+97C>T	noncoding	Benign
11	78443687	G	C	G78443687C	NARS2	NM_024678.6(NARS2):c.1236C>G:p.Tyr412Ter	coding	Pathogenic
11	78443846	G	A	G78443846A	NARS2	NM_024678.6(NARS2):c.1165-88C>T	noncoding	Benign
11	78443920	T	C	T78443920C	NARS2	NM_024678.6(NARS2):c.1165-162A>G	noncoding	Benign
11	78465762	A	G	A78465762G	NARS2	NM_024678.6(NARS2):c.1164+114T>C	noncoding	Benign
11	78465958	T	C	T78465958C	NARS2	NM_024678.6(NARS2):c.1082A>G:p.Asn361Ser	coding	Benign/Likely_benign
11	78469133	A	G	A78469133G	NARS2	NM_024678.6(NARS2):c.1026+114T>C	noncoding	Benign
11	78469461	A	T	A78469461T	NARS2	NM_024678.6(NARS2):c.960-148T>A	noncoding	Benign
11	78469462	A	C	A78469462C	NARS2	NM_024678.6(NARS2):c.960-149T>G	noncoding	Benign
11	78478512	T	C	T78478512C	NARS2	NM_024678.6(NARS2):c.922-37A>G	noncoding	Benign
11	78493334	C	T	C78493334T	NARS2	NM_024678.6(NARS2):c.690-139G>A	noncoding	Benign
11	78528580	T	A	T78528580A	NARS2	NM_024678.6(NARS2):c.689+262A>T	noncoding	Benign
11	78529173	A	T	A78529173T	NARS2	NM_024678.6(NARS2):c.595-237T>A	noncoding	Benign
11	78559588	A	T	A78559588T	NARS2	NM_024678.6(NARS2):c.545T>A:p.Ile182Lys	coding	Pathogenic
11	78566153	A	G	A78566153G	NARS2	NM_024678.6(NARS2):c.492T>C:p.Ala164=	coding	Benign/Likely_benign
11	78566227	G	A	G78566227A	NARS2	NM_024678.6(NARS2):c.418C>T:p.Arg140Ter	coding	Pathogenic
11	78568923	G	A	G78568923A	NARS2	NM_024678.6(NARS2):c.252-171C>T	noncoding	Benign
11	78571081	G	A	G78571081A	NARS2	NM_024678.6(NARS2):c.251+254C>T	noncoding	Benign
11	78571103	A	G	A78571103G	NARS2	NM_024678.6(NARS2):c.251+232T>C	noncoding	Benign
11	78571464	C	G	C78571464G	NARS2	NM_024678.6(NARS2):c.142-20G>C	noncoding	Benign/Likely_benign
11	78571587	T	C	T78571587C	NARS2	NM_024678.6(NARS2):c.142-143A>G	noncoding	Benign
11	78574214	C	A	C78574214A	NARS2	NM_024678.6(NARS2):c.141+134G>T	noncoding	Benign
11	78661491	G	A	G78661491A	TENM4	NM_001098816.3(TENM4):c.7509C>T:p.Leu2503=	coding	Benign
11	78669154	C	T	C78669154T	TENM4	NM_001098816.3(TENM4):c.7191G>A:p.Gln2397=	coding	Benign
11	78676361	C	T	C78676361T	TENM4	NM_001098816.3(TENM4):c.5287G>A:p.Gly1763Arg	coding	Benign
11	78688076	G	A	G78688076A	TENM4	NM_001098816.3(TENM4):c.5238C>T:p.Gly1746=	coding	Benign
11	78856172	G	A	G78856172A	TENM4	NM_001098816.3(TENM4):c.1262C>T:p.Pro421Leu	coding	Pathogenic
11	85631688	T	C	T85631688C	TMEM126B	NM_018480.7(TMEM126B):c.83T>C:p.Val28Ala	coding	Benign/Likely_benign
11	85634217	C	T	C85634217T	TMEM126B	NM_018480.7(TMEM126B):c.335C>T:p.Thr112Ile	coding	Benign
11	85636129	C	T	C85636129T	TMEM126B	NM_018480.7(TMEM126B):c.593C>T:p.Ala198Val	coding	Benign
11	85636371	G	A	G85636371A	TMEM126B	NM_018480.7(TMEM126B):c.*142G>A	noncoding	Benign
11	85648169	A	C	A85648169C	TMEM126A	NM_032273.4(TMEM126A):c.-8+80A>C	noncoding	Benign
11	85648210	A	G	A85648210G	TMEM126A	NM_032273.4(TMEM126A):c.-8+121A>G	noncoding	Benign
11	85656245	C	T	C85656245T	TMEM126A	NM_032273.4(TMEM126A):c.396-64C>T	noncoding	Benign
11	85656658	C	T	C85656658T	TMEM126A	Single_allele	noncoding	Benign
11	85974531	C	T	C85974531T	PICALM	NM_007166.4(PICALM):c.1944+177G>A	noncoding	Benign
11	85975053	T	G	T85975053G	PICALM	NM_007166.4(PICALM):c.1840-241A>C	noncoding	Benign
11	85975108	A	T	A85975108T	PICALM	NM_007166.4(PICALM):c.1840-296T>A	noncoding	Benign
11	85978392	T	C	T85978392C	PICALM	NM_007166.4(PICALM):c.1780-1710A>G	noncoding	Benign
11	85981018	A	G	A85981018G	PICALM	NM_007166.4(PICALM):c.1779+111T>C	noncoding	Benign
11	85981299	A	C	A85981299C	PICALM	NM_007166.4(PICALM):c.1680-71T>G	noncoding	Benign
11	85982310	C	T	C85982310T	PICALM	NM_007166.4(PICALM):c.1517-307G>A	noncoding	Benign
11	85983565	A	G	A85983565G	PICALM	NM_007166.4(PICALM):c.1516+301T>C	noncoding	Benign
11	85990579	T	C	T85990579C	PICALM	NM_007166.4(PICALM):c.1259-180A>G	noncoding	Benign
11	85990698	T	C	T85990698C	PICALM	NM_007166.4(PICALM):c.1259-299A>G	noncoding	Benign
11	86001394	T	C	T86001394C	PICALM	NM_007166.4(PICALM):c.894-236A>G	noncoding	Benign
11	86001464	T	C	T86001464C	PICALM	NM_007166.4(PICALM):c.894-306A>G	noncoding	Benign
11	86003245	T	C	T86003245C	PICALM	NM_007166.4(PICALM):c.893+121A>G	noncoding	Benign
11	86003562	T	C	T86003562C	PICALM	NM_007166.4(PICALM):c.808-111A>G	noncoding	Benign
11	86007620	A	C	A86007620C	PICALM	NM_007166.4(PICALM):c.766-37T>G	noncoding	Benign
11	86007773	C	G	C86007773G	PICALM	NM_007166.4(PICALM):c.766-190G>C	noncoding	Benign
11	86012084	C	T	C86012084T	PICALM	NM_007166.4(PICALM):c.658+197G>A	noncoding	Benign
11	86012484	C	T	C86012484T	PICALM	NM_007166.4(PICALM):c.547-92G>A	noncoding	Benign
11	86015251	T	G	T86015251G	PICALM	NM_007166.4(PICALM):c.453-288A>C	noncoding	Benign
11	86022022	A	C	A86022022C	PICALM	NM_007166.4(PICALM):c.452+345T>G	noncoding	Benign
11	86022065	T	G	T86022065G	PICALM	NM_007166.4(PICALM):c.452+302A>C	noncoding	Benign
11	86022686	T	C	T86022686C	PICALM	NM_007166.4(PICALM):c.350-217A>G	noncoding	Benign
11	86026023	C	G	C86026023G	PICALM	NM_007166.4(PICALM):c.349+269G>C	noncoding	Benign
11	86026087	T	C	T86026087C	PICALM	NM_007166.4(PICALM):c.349+205A>G	noncoding	Benign
11	86026460	A	G	A86026460G	PICALM	NM_007166.4(PICALM):c.274-93T>C	noncoding	Benign
11	86069406	T	C	T86069406C	PICALM	NM_001206947.2(PICALM):c.-24+314A>G	noncoding	Benign
11	86244421	G	C	G86244421C	EED	Single_allele	noncoding	Benign
11	86250124	C	T	C86250124T	EED	NM_003797.5(EED):c.115-172C>T	noncoding	Benign
11	86250604	G	A	G86250604A	EED	NM_003797.5(EED):c.267+156G>A	noncoding	Benign
11	86252105	G	A	G86252105A	EED	NM_003797.5(EED):c.268-43G>A	noncoding	Benign
11	86255135	G	T	G86255135T	EED	NM_003797.5(EED):c.361-87G>T	noncoding	Benign
11	86256256	A	G	A86256256G	EED	NM_003797.5(EED):c.427-131A>G	noncoding	Benign
11	86256667	G	A	G86256667A	EED	NM_003797.5(EED):c.552+155G>A	noncoding	Benign
11	86257323	C	T	C86257323T	EED	NM_003797.5(EED):c.553-192C>T	noncoding	Benign
11	86257543	A	G	A86257543G	EED	NM_003797.5(EED):c.581A>G:p.Asn194Ser	coding	Pathogenic
11	86257581	C	T	C86257581T	EED	NM_003797.5(EED):c.619C>T:p.Leu207=	coding	Benign
11	86266075	G	A	G86266075A	EED	NM_003797.5(EED):c.727-8G>A	noncoding	Benign
11	86268228	T	G	T86268228G	EED	NM_003797.5(EED):c.861-228T>G	noncoding	Benign
11	86268627	A	G	A86268627G	EED	NM_003797.5(EED):c.966+66A>G	noncoding	Benign
11	86268636	C	T	C86268636T	EED	NM_003797.5(EED):c.966+75C>T	noncoding	Benign
11	86276776	A	C	A86276776C	EED	NM_003797.5(EED):c.967-204A>C	noncoding	Benign
11	86278474	T	C	T86278474C	EED	NM_003797.5(EED):c.1275T>C:p.Leu425=	coding	Benign
11	86306229	G	A	G86306229A	HIKESHI	NM_016401.4(HIKESHI):c.31-16G>A	noncoding	Benign
11	86337359	C	T	C86337359T	HIKESHI	NM_016401.4(HIKESHI):c.269-20C>T	noncoding	Benign
11	86951205	T	C	T86951205C	FZD4	NM_012193.4(FZD4):c.1551A>G:p.Val517=	coding	Benign
11	86951243	G	A	G86951243A	FZD4	NM_012193.4(FZD4):c.1513C>T:p.Gln505Ter	coding	Pathogenic/Likely_pathogenic
11	86951282	C	G	C86951282G	FZD4	NM_012193.4(FZD4):c.1474G>C:p.Gly492Arg	coding	Pathogenic/Likely_pathogenic
11	86951394	A	T	A86951394T	FZD4	NM_012193.4(FZD4):c.1362T>A:p.Cys454Ter	coding	Pathogenic
11	86951434	G	C	G86951434C	FZD4;PRSS23	NM_012193.4(FZD4):c.1322C>G:p.Ser441Ter	coding	Pathogenic
11	86952180	G	A	G86952180A	FZD4	NM_012193.4(FZD4):c.576C>T:p.Ile192=	coding	Benign
11	86954881	G	A	G86954881A	FZD4	NM_012193.4(FZD4):c.205C>T:p.His69Tyr	coding	Benign/Likely_benign
11	86954968	C	A	C86954968A	FZD4	NM_012193.4(FZD4):c.118G>T:p.Glu40Ter	coding	Pathogenic
11	88296207	C	G	C88296207G	CTSC	NM_001814.6(CTSC):c.815G>C:p.Arg272Pro	coding	Pathogenic/Likely_pathogenic
11	88296280	A	T	A88296280T	CTSC	NM_001814.6(CTSC):c.758-16T>A	noncoding	Benign
11	88296417	T	C	T88296417C	CTSC	NM_001814.6(CTSC):c.758-153A>G	noncoding	Benign
11	88296449	T	C	T88296449C	CTSC	NM_001814.6(CTSC):c.758-185A>G	noncoding	Benign
11	88300344	A	T	A88300344T	CTSC	NM_001814.6(CTSC):c.757+186T>A	noncoding	Benign
11	88300353	T	C	T88300353C	CTSC	NM_001814.6(CTSC):c.757+177A>G	noncoding	Benign
11	88300533	G	A	G88300533A	CTSC	NM_001814.6(CTSC):c.754C>T:p.Gln252Ter	coding	Pathogenic
11	88309234	G	C	G88309234C	CTSC	NM_001814.6(CTSC):c.570C>G:p.Tyr190Ter	coding	Pathogenic
11	88309278	T	A	T88309278A	CTSC	NM_001814.6(CTSC):c.526A>T:p.Lys176Ter	coding	Pathogenic
11	88312096	T	G	T88312096G	CTSC	NM_001814.6(CTSC):c.485+292A>C	noncoding	Benign
11	88312108	A	C	A88312108C	CTSC	NM_001814.6(CTSC):c.485+280T>G	noncoding	Benign
11	88326515	G	A	G88326515A	CTSC	NM_001814.6(CTSC):c.318+8422C>T	noncoding	Benign
11	88326571	T	C	T88326571C	CTSC	NM_001814.6(CTSC):c.318+8366A>G	noncoding	Benign
11	88326572	A	T	A88326572T	CTSC	NM_001814.6(CTSC):c.318+8365T>A	noncoding	Benign
11	88326713	T	A	T88326713A	CTSC	NM_001814.6(CTSC):c.318+8224A>T	noncoding	Benign
11	88326714	T	C	T88326714C	CTSC	NM_001814.6(CTSC):c.318+8223A>G	noncoding	Benign
11	88328237	A	C	A88328237C	CTSC	NM_001814.6(CTSC):c.318+6700T>G	noncoding	Benign
11	88328488	A	G	A88328488G	CTSC	NM_001814.6(CTSC):c.318+6449T>C	noncoding	Benign
11	88334658	G	T	G88334658T	CTSC	NM_001814.6(CTSC):c.318+279C>A	noncoding	Benign
11	88334681	C	T	C88334681T	CTSC	NM_001814.6(CTSC):c.318+256G>A	noncoding	Benign
11	88334836	T	A	T88334836A	CTSC	NM_001814.6(CTSC):c.318+101A>T	noncoding	Benign
11	88334884	G	T	G88334884T	CTSC	NM_001814.6(CTSC):c.318+53C>A	noncoding	Benign
11	88334987	G	A	G88334987A	CTSC	NM_001814.6(CTSC):c.268C>T:p.Gln90Ter	coding	Pathogenic
11	88335161	T	A	T88335161A	CTSC	NM_001814.6(CTSC):c.173-79A>T	noncoding	Benign
11	88335293	T	C	T88335293C	CTSC	NM_001814.6(CTSC):c.173-211A>G	noncoding	Benign
11	88337395	C	T	C88337395T	CTSC	NM_001814.6(CTSC):c.172+106G>A	noncoding	Benign
11	88337727	G	T	G88337727T	CTSC	NM_001814.6(CTSC):c.-55C>A	noncoding	Pathogenic
11	88337904	A	G	A88337904G	CTSC	Single_allele	noncoding	Benign
11	89177653	C	T	C89177653T	TYR	Single_allele	noncoding	Benign
11	89177954	A	G	A89177954G	TYR	NM_000372.5(TYR):c.1A>G:p.Met1Val	coding	Pathogenic
11	89177955	T	C	T89177955C	TYR	NM_000372.5(TYR):c.2T>C:p.Met1Thr	coding	Pathogenic
11	89178004	T	C	T89178004C	TYR	NM_000372.5(TYR):c.51T>C:p.Ala17=	coding	Benign/Likely_benign
11	89178014	C	T	C89178014T	TYR	NM_000372.5(TYR):c.61C>T:p.Pro21Ser	coding	Pathogenic
11	89178024	G	A	G89178024A	TYR	NM_000372.5(TYR):c.71G>A:p.Cys24Tyr	coding	Pathogenic
11	89178047	G	T	G89178047T	TYR	NM_000372.5(TYR):c.94G>T:p.Glu32Ter	coding	Pathogenic
11	89178051	A	C	A89178051C	TYR	NM_000372.5(TYR):c.98A>C:p.Lys33Thr	coding	Pathogenic
11	89178085	T	A	T89178085A	TYR	NM_000372.5(TYR):c.132T>A:p.Ser44Arg	coding	Pathogenic
11	89178091	T	A	T89178091A	TYR	NM_000372.5(TYR):c.138T>A:p.Cys46Ter	coding	Pathogenic
11	89178208	T	A	T89178208A	TYR	NM_000372.5(TYR):c.255T>A:p.Tyr85Ter	coding	Pathogenic
11	89178243	G	T	G89178243T	TYR	NM_000372.5(TYR):c.290G>T:p.Gly97Val	coding	Pathogenic
11	89178278	G	A	G89178278A	TYR	NM_000372.5(TYR):c.325G>A:p.Gly109Arg	coding	Pathogenic/Likely_pathogenic
11	89178321	T	C	T89178321C	TYR	NM_000372.5(TYR):c.368T>C:p.Ile123Thr	coding	Pathogenic
11	89178559	T	G	T89178559G	TYR	NM_000372.5(TYR):c.606T>G:p.His202Gln	coding	Pathogenic
11	89178579	C	T	C89178579T	TYR	NM_000372.5(TYR):c.626C>T:p.Pro209Leu	coding	Pathogenic
11	89178588	G	A	G89178588A	TYR	NM_000372.5(TYR):c.635G>A:p.Arg212Lys	coding	Pathogenic/Likely_pathogenic
11	89178668	C	T	C89178668T	TYR	NM_000372.5(TYR):c.715C>T:p.Arg239Trp	coding	Pathogenic
11	89178710	G	A	G89178710A	TYR	NM_000372.5(TYR):c.757G>A:p.Gly253Arg	coding	Pathogenic/Likely_pathogenic
11	89191378	G	A	G89191378A	TYR	NM_000372.5(TYR):c.996G>A:p.Met332Ile	coding	Pathogenic/Likely_pathogenic
11	89191419	G	A	G89191419A	TYR	NM_000372.5(TYR):c.1036+1G>A	coding	Pathogenic/Likely_pathogenic
11	89191420	T	G	T89191420G	TYR	NM_000372.5(TYR):c.1036+2T>G	noncoding	Pathogenic
11	89227622	G	A	G89227622A	TYR	NM_000372.5(TYR):c.1037-201G>A	noncoding	Benign
11	89227648	T	C	T89227648C	TYR	NM_000372.5(TYR):c.1037-175T>C	noncoding	Benign
11	89227746	T	C	T89227746C	TYR	NM_000372.5(TYR):c.1037-77T>C	noncoding	Benign
11	89227823	G	A	G89227823A	TYR	NM_000372.5(TYR):c.1037G>A:p.Gly346Glu	coding	Pathogenic/Likely_pathogenic
11	89227861	C	T	C89227861T	TYR	NM_000372.5(TYR):c.1075C>T:p.Gln359Ter	coding	Pathogenic
11	89227892	A	G	A89227892G	TYR	NM_000372.5(TYR):c.1106A>G:p.Tyr369Cys	coding	Pathogenic
11	89228020	G	A	G89228020A	TYR	NM_000372.5(TYR):c.1184+50G>A	noncoding	Benign
11	89228131	T	G	T89228131G	TYR	NM_000372.5(TYR):c.1184+161T>G	noncoding	Benign
11	89284852	C	T	C89284852T	TYR	NM_000372.5(TYR):c.1264C>T:p.Arg422Trp	coding	Pathogenic/Likely_pathogenic
11	89284934	A	G	A89284934G	TYR	NM_000372.5(TYR):c.1346A>G:p.Tyr449Cys	coding	Pathogenic
11	89284955	G	T	G89284955T	TYR	NM_000372.5(TYR):c.1366+1G>T	coding	Pathogenic
11	89294875	T	G	T89294875G	TYR	NM_000372.5(TYR):c.1367-268T>G	noncoding	Benign
11	92355011	C	T	C92355011T	FAT3	NM_001367949.2(FAT3):c.2899C>T:p.Leu967=	coding	Benign
11	92798190	A	G	A92798190G	FAT3	NM_001367949.2(FAT3):c.5177A>G:p.Gln1726Arg	coding	Benign
11	92799511	T	C	T92799511C	FAT3	NM_001367949.2(FAT3):c.6498T>C:p.Pro2166=	coding	Benign
11	93783896	A	G	A93783896G	MED17	Single_allele	noncoding	Benign
11	93784133	A	G	A93784133G	MED17	Single_allele	noncoding	Benign
11	93784163	A	G	A93784163G	MED17	Single_allele	noncoding	Benign
11	93784298	A	C	A93784298C	MED17	NM_004268.5(MED17):c.-216A>C	noncoding	Benign
11	93784748	C	T	C93784748T	MED17	NM_004268.5(MED17):c.235C>T:p.Gln79Ter	coding	Pathogenic
11	93788092	T	C	T93788092C	MED17	NM_004268.5(MED17):c.342T>C:p.Asp114=	coding	Benign
11	93788239	C	T	C93788239T	MED17	NM_004268.5(MED17):c.417+72C>T	noncoding	Benign
11	93790628	C	T	C93790628T	MED17	NM_004268.5(MED17):c.472C>T:p.Gln158Ter	coding	Pathogenic
11	93790672	C	T	C93790672T	MED17	NM_004268.5(MED17):c.516C>T:p.Thr172=	coding	Benign
11	93790717	T	A	T93790717A	MED17	NM_004268.5(MED17):c.561T>A:p.Leu187=	coding	Benign
11	93790721	C	T	C93790721T	MED17	NM_004268.5(MED17):c.565C>T:p.Arg189Ter	coding	Pathogenic
11	93793937	T	C	T93793937C	MED17	NM_004268.5(MED17):c.775-14T>C	noncoding	Benign
11	93794011	C	T	C93794011T	MED17	NM_004268.5(MED17):c.835C>T:p.Arg279Ter	coding	Pathogenic
11	93795343	T	C	T93795343C	MED17	NM_004268.5(MED17):c.1012+283T>C	noncoding	Benign
11	93796268	T	C	T93796268C	MED17	NM_004268.5(MED17):c.1013-142T>C	noncoding	Benign
11	93796451	A	T	A93796451T	MED17	NM_004268.5(MED17):c.1054A>T:p.Lys352Ter	coding	Pathogenic
11	93796743	G	T	G93796743T	MED17	NM_004268.5(MED17):c.1143+203G>T	noncoding	Benign
11	93797541	A	T	A93797541T	MED17	NM_004268.5(MED17):c.1150A>T:p.Lys384Ter	coding	Pathogenic
11	93797601	A	T	A93797601T	MED17	NM_004268.5(MED17):c.1210A>T:p.Arg404Ter	coding	Pathogenic
11	93797731	G	A	G93797731A	MED17	NM_004268.5(MED17):c.1328+12G>A	noncoding	Benign
11	93797869	G	A	G93797869A	MED17	NM_004268.5(MED17):c.1328+150G>A	noncoding	Benign
11	93801764	T	G	T93801764G	MED17	NM_004268.5(MED17):c.1329-71T>G	noncoding	Benign
11	93801765	T	A	T93801765A	MED17	NM_004268.5(MED17):c.1329-70T>A	noncoding	Benign
11	93801823	T	C	T93801823C	MED17	NM_004268.5(MED17):c.1329-12T>C	noncoding	Benign
11	93801866	C	T	C93801866T	MED17	NM_004268.5(MED17):c.1360C>T:p.Arg454Ter	coding	Pathogenic
11	93802287	A	G	A93802287G	MED17	NM_004268.5(MED17):c.1466+315A>G	noncoding	Benign
11	93807599	T	C	T93807599C	MED17	NM_004268.5(MED17):c.1548T>C:p.Tyr516=	coding	Benign
11	93807633	C	T	C93807633T	MED17	NM_004268.5(MED17):c.1582C>T:p.Gln528Ter	coding	Pathogenic
11	93809548	G	A	G93809548A	MED17	NM_004268.5(MED17):c.1585-169G>A	noncoding	Benign
11	93809646	C	T	C93809646T	MED17	NM_004268.5(MED17):c.1585-71C>T	noncoding	Benign
11	94064453	A	G	A94064453G	HEPHL1	NM_001098672.2(HEPHL1):c.751A>G:p.Asn251Asp	coding	Benign
11	94070551	C	G	C94070551G	HEPHL1	NM_001098672.2(HEPHL1):c.1232+9C>G	noncoding	Benign
11	94110868	G	T	G94110868T	HEPHL1	NM_001098672.2(HEPHL1):c.3046-35G>T	noncoding	Benign
11	94128631	A	G	A94128631G	PANX1	Single_allele	noncoding	Benign
11	94128854	C	T	C94128854T	PANX1	NM_015368.4(PANX1):c.-459C>T	noncoding	Benign
11	94129292	C	G	C94129292G	PANX1	NM_015368.4(PANX1):c.-21C>G	noncoding	Benign
11	94129327	A	C	A94129327C	PANX1	NM_015368.4(PANX1):c.15A>C:p.Gln5His	coding	Benign
11	94153672	G	C	G94153672C	PANX1	NM_015368.4(PANX1):c.321+42G>C	noncoding	Benign
11	94178690	C	T	C94178690T	PANX1	NM_015368.4(PANX1):c.545+98C>T	noncoding	Benign
11	94179454	C	T	C94179454T	PANX1	NM_015368.4(PANX1):c.546-148C>T	noncoding	Benign
11	94179472	A	G	A94179472G	PANX1	NM_015368.4(PANX1):c.546-130A>G	noncoding	Benign
11	94179870	A	G	A94179870G	PANX1	NM_015368.4(PANX1):c.814A>G:p.Ile272Val	coding	Benign
11	94180226	G	T	G94180226T	PANX1	NM_015368.4(PANX1):c.1170G>T:p.Glu390Asp	coding	Benign
11	94180292	T	C	T94180292C	PANX1	NM_015368.4(PANX1):c.1201+35T>C	noncoding	Benign
11	94180326	T	C	T94180326C	PANX1	NM_015368.4(PANX1):c.1201+69T>C	noncoding	Benign
11	94180525	C	T	C94180525T	PANX1	NM_015368.4(PANX1):c.1202-265C>T	noncoding	Benign
11	94180526	T	C	T94180526C	PANX1	NM_015368.4(PANX1):c.1202-264T>C	noncoding	Benign
11	94180963	A	G	A94180963G	PANX1	NM_015368.4(PANX1):c.*94A>G	noncoding	Benign
11	94435534	C	G	C94435534G	MRE11	NM_005591.4(MRE11):c.1994+298G>C	noncoding	Benign
11	94435847	G	T	G94435847T	MRE11	NM_005591.4(MRE11):c.1979C>A:p.Ser660Ter	coding	Pathogenic
11	94437215	G	A	G94437215A	MRE11	NM_005591.4(MRE11):c.1888C>T:p.Gln630Ter	coding	Pathogenic
11	94437368	G	C	G94437368C	MRE11	NM_005591.4(MRE11):c.1868-133C>G	noncoding	Benign
11	94437508	C	T	C94437508T	MRE11	NM_005591.4(MRE11):c.1868-273G>A	noncoding	Benign
11	94445909	A	C	A94445909C	MRE11	NM_005591.4(MRE11):c.1784-16T>G	noncoding	Benign
11	94445959	T	C	T94445959C	MRE11	NM_005591.4(MRE11):c.1784-66A>G	noncoding	Benign
11	94446949	G	C	G94446949C	MRE11	NM_005591.4(MRE11):c.1783+270C>G	noncoding	Benign
11	94447100	T	G	T94447100G	MRE11	NM_005591.4(MRE11):c.1783+119A>C	noncoding	Benign
11	94459854	A	G	A94459854G	MRE11	NM_005591.4(MRE11):c.1327-273T>C	noncoding	Benign
11	94460837	A	T	A94460837T	MRE11	NM_005591.4(MRE11):c.1326+99T>A	noncoding	Benign
11	94461137	G	T	G94461137T	MRE11	NM_005591.4(MRE11):c.1226-101C>A	noncoding	Benign
11	94461291	G	A	G94461291A	MRE11	NM_005591.4(MRE11):c.1226-255C>T	noncoding	Benign
11	94464074	T	C	T94464074C	MRE11	NM_005591.4(MRE11):c.1225+39A>G	noncoding	Benign
11	94464090	C	A	C94464090A	MRE11	NM_005591.4(MRE11):c.1225+23G>T	noncoding	Benign/Likely_benign
11	94464265	C	G	C94464265G	MRE11	NM_005591.4(MRE11):c.1099-26G>C	noncoding	Benign/Likely_benign
11	94464402	C	T	C94464402T	MRE11	NM_005591.4(MRE11):c.1099-163G>A	noncoding	Benign
11	94464456	T	C	T94464456C	MRE11	NM_005591.4(MRE11):c.1099-217A>G	noncoding	Benign
11	94467524	C	G	C94467524G	MRE11	NM_005591.4(MRE11):c.1098+289G>C	noncoding	Benign
11	94467601	A	G	A94467601G	MRE11	NM_005591.4(MRE11):c.1098+212T>C	noncoding	Benign
11	94467609	G	C	G94467609C	MRE11	NM_005591.4(MRE11):c.1098+204C>G	noncoding	Benign
11	94467815	G	A	G94467815A	MRE11	NM_005591.4(MRE11):c.1096C>T:p.Arg366Ter	coding	Pathogenic
11	94470187	G	A	G94470187A	MRE11	NM_005591.4(MRE11):c.1017+284C>T	noncoding	Benign
11	94470702	A	T	A94470702T	MRE11	NM_005591.4(MRE11):c.846-60T>A	noncoding	Benign
11	94472068	T	C	T94472068C	MRE11	NM_005591.4(MRE11):c.660-309A>G	noncoding	Benign
11	94476182	T	C	T94476182C	MRE11	NM_005591.4(MRE11):c.659+107A>G	noncoding	Benign
11	94476259	G	C	G94476259C	MRE11	NM_005591.4(MRE11):c.659+30C>G	noncoding	Benign/Likely_benign
11	94476447	G	A	G94476447A	MRE11	NM_005591.4(MRE11):c.545-44C>T	noncoding	Benign/Likely_benign
11	94478878	T	A	T94478878A	MRE11	NM_005591.4(MRE11):c.403-2A>T	noncoding	Pathogenic
11	94478983	C	T	C94478983T	MRE11	NM_005591.4(MRE11):c.403-107G>A	noncoding	Benign
11	94478988	A	G	A94478988G	MRE11	NM_005591.4(MRE11):c.403-112T>C	noncoding	Benign
11	94485832	T	C	T94485832C	MRE11	NM_005591.4(MRE11):c.314+92A>G	noncoding	Benign
11	94490689	A	G	A94490689G	MRE11	NM_005591.4(MRE11):c.153+144T>C	noncoding	Benign
11	94491108	C	G	C94491108G	MRE11	NM_005591.4(MRE11):c.21-143G>C	noncoding	Benign
11	94492641	C	T	C94492641T	MRE11	NM_005591.4(MRE11):c.20+141G>A	noncoding	Benign
11	94493185	G	A	G94493185A	MRE11	NM_005591.4(MRE11):c.-105-279C>T	noncoding	Benign
11	94493391	C	G	C94493391G	MRE11	NM_005591.4(MRE11):c.-106+400G>C	noncoding	Benign
11	94493416	A	G	A94493416G	MRE11	NM_005591.4(MRE11):c.-106+375T>C	noncoding	Benign
11	94493476	C	A	C94493476A	MRE11	NM_005591.4(MRE11):c.-106+315G>T	noncoding	Benign
11	94493932	G	T	G94493932T	MRE11	Single_allele	noncoding	Benign
11	94493959	C	A	C94493959A	MRE11	Single_allele	noncoding	Benign
11	95813131	T	G	T95813131G	CEP57	NM_014679.5(CEP57):c.382+20T>G	noncoding	Benign
11	95817805	C	T	C95817805T	CEP57	NM_014679.5(CEP57):c.523C>T:p.Arg175Ter	coding	Pathogenic
11	95827915	C	T	C95827915T	CEP57	NM_014679.5(CEP57):c.1015C>T:p.Arg339Ter	coding	Pathogenic
11	95828017	C	T	C95828017T	CEP57	NM_014679.5(CEP57):c.1117C>T:p.Gln373Ter	coding	Pathogenic
11	95836366	G	A	G95836366A	MTMR2	NM_016156.6(MTMR2):c.1594-42C>T	noncoding	Benign
11	95838093	C	T	C95838093T	MTMR2	NM_016156.6(MTMR2):c.1593+1G>A	noncoding	Pathogenic
11	95838124	G	T	G95838124T	MTMR2	NM_016156.6(MTMR2):c.1563C>A:p.Leu521=	coding	Benign
11	95844761	C	G	C95844761G	MTMR2	NM_016156.6(MTMR2):c.1386+192G>C	noncoding	Benign
11	95845021	G	A	G95845021A	MTMR2	NM_016156.6(MTMR2):c.1318C>T:p.Arg440Ter	coding	Pathogenic
11	95845430	A	T	A95845430T	MTMR2	NM_016156.6(MTMR2):c.1180-271T>A	noncoding	Benign
11	95849665	C	G	C95849665G	MTMR2	NM_016156.6(MTMR2):c.993+9G>C	noncoding	Benign
11	95857322	G	A	G95857322A	MTMR2	NM_016156.6(MTMR2):c.654+230C>T	noncoding	Benign
11	95858187	C	T	C95858187T	MTMR2	NM_016156.6(MTMR2):c.570+344G>A	noncoding	Benign
11	95858708	A	G	A95858708G	MTMR2	NM_016156.6(MTMR2):c.469-76T>C	noncoding	Benign
11	95862425	C	A	C95862425A	MTMR2	NM_016156.6(MTMR2):c.263-59G>T	noncoding	Benign
11	95887581	T	C	T95887581C	MTMR2	NM_016156.6(MTMR2):c.186+575A>G	noncoding	Benign
11	95888001	T	C	T95888001C	MTMR2	NM_016156.6(MTMR2):c.186+155A>G	noncoding	Benign
11	95888559	C	T	C95888559T	MTMR2	NM_016156.6(MTMR2):c.81-298G>A	noncoding	Benign
11	96384213	G	A	G96384213A	CCDC82	NM_024725.4(CCDC82):c.535C>T:p.Arg179Ter	coding	Pathogenic
11	101453067	C	A	C101453067A	TRPC6	NM_004621.6(TRPC6):c.2684G>T:p.Arg895Leu	coding	Pathogenic
11	101453252	G	A	G101453252A	TRPC6	NM_004621.6(TRPC6):c.2645-146C>T	noncoding	Benign
11	101453654	G	A	G101453654A	TRPC6	NM_004621.6(TRPC6):c.2640C>T:p.Asn880=	coding	Benign
11	101453689	G	A	G101453689A	TRPC6	NM_004621.6(TRPC6):c.2605C>T:p.Gln869Ter	coding	Pathogenic
11	101454847	A	T	A101454847T	TRPC6	NM_004621.6(TRPC6):c.2568+171T>A	noncoding	Benign
11	101455239	G	A	G101455239A	TRPC6	NM_004621.6(TRPC6):c.2485-138C>T	noncoding	Benign
11	101455388	G	A	G101455388A	TRPC6	NM_004621.6(TRPC6):c.2485-287C>T	noncoding	Benign
11	101469276	A	G	A101469276G	TRPC6	NM_004621.6(TRPC6):c.2484+151T>C	noncoding	Benign
11	101472299	A	G	A101472299G	TRPC6	NM_004621.6(TRPC6):c.2043T>C:p.Ala681=	coding	Benign
11	101472631	C	T	C101472631T	TRPC6	NM_004621.6(TRPC6):c.2010-299G>A	noncoding	Benign
11	101473446	G	A	G101473446A	TRPC6	NM_004621.6(TRPC6):c.2009+63C>T	noncoding	Benign
11	101473968	A	G	A101473968G	TRPC6	NM_004621.6(TRPC6):c.1745-195T>C	noncoding	Benign
11	101482750	C	T	C101482750T	TRPC6	NM_004621.6(TRPC6):c.1510+199G>A	noncoding	Benign
11	101482761	C	T	C101482761T	TRPC6	NM_004621.6(TRPC6):c.1510+188G>A	noncoding	Benign
11	101483301	G	A	G101483301A	TRPC6	NM_004621.6(TRPC6):c.1294-136C>T	noncoding	Benign
11	101488700	T	C	T101488700C	TRPC6	NM_004621.6(TRPC6):c.1293+237A>G	noncoding	Benign
11	101489201	C	T	C101489201T	TRPC6	NM_004621.6(TRPC6):c.1129-100G>A	noncoding	Benign
11	101489400	C	T	C101489400T	TRPC6	NM_004621.6(TRPC6):c.1129-299G>A	noncoding	Benign
11	101491688	G	A	G101491688A	TRPC6	NM_004621.6(TRPC6):c.996C>T:p.Leu332=	coding	Benign/Likely_benign
11	101491736	A	G	A101491736G	TRPC6	NM_004621.6(TRPC6):c.948T>C:p.Asn316=	coding	Benign
11	101503895	G	A	G101503895A	TRPC6	NM_004621.6(TRPC6):c.945+129C>T	noncoding	Benign
11	101504302	T	C	T101504302C	TRPC6	NM_004621.6(TRPC6):c.667A>G:p.Ile223Val	coding	Benign
11	101504884	C	G	C101504884G	TRPC6	NM_004621.6(TRPC6):c.171-86G>C	noncoding	Benign
11	101505019	T	G	T101505019G	TRPC6	NM_004621.6(TRPC6):c.171-221A>C	noncoding	Benign
11	101583264	C	T	C101583264T	TRPC6	NM_004621.6(TRPC6):c.170+70G>A	noncoding	Benign
11	102047477	A	G	A102047477G	CFAP300	NM_032930.3(CFAP300):c.7A>G:p.Thr3Ala	coding	Benign
11	102047486	C	T	C102047486T	CFAP300	NM_032930.3(CFAP300):c.16C>T:p.Leu6Phe	coding	Benign
11	102047596	A	G	A102047596G	CFAP300	NM_032930.3(CFAP300):c.110+16A>G	noncoding	Benign
11	102047872	C	T	C102047872T	CFAP300	NM_032930.3(CFAP300):c.168C>T:p.Ser56=	coding	Benign
11	102047955	A	C	A102047955C	CFAP300	NM_032930.3(CFAP300):c.192+59A>C	noncoding	Benign
11	102058897	A	C	A102058897C	CFAP300	NM_032930.3(CFAP300):c.210A>C:p.Pro70=	coding	Benign
11	102058968	T	C	T102058968C	CFAP300	NM_032930.3(CFAP300):c.268+13T>C	noncoding	Benign
11	102058971	A	G	A102058971G	CFAP300	NM_032930.3(CFAP300):c.268+16A>G	noncoding	Benign
11	102066525	C	T	C102066525T	CFAP300	NM_032930.3(CFAP300):c.309C>T:p.Cys103=	coding	Benign
11	102076034	G	A	G102076034A	CFAP300	NM_032930.3(CFAP300):c.597G>A:p.Lys199=	coding	Benign
11	102083100	A	G	A102083100G	CFAP300	NM_032930.3(CFAP300):c.705A>G:p.Ala235=	coding	Benign
11	102083149	C	T	C102083149T	CFAP300	NM_032930.3(CFAP300):c.754C>T:p.Arg252Cys	coding	Benign
11	102110546	T	C	T102110546C	YAP1	NM_001130145.3(YAP1):c.-303T>C	noncoding	Benign
11	102111105	T	C	T102111105C	YAP1	NM_001130145.3(YAP1):c.257T>C:p.Met86Thr	coding	Pathogenic
11	102113897	C	T	C102113897T	YAP1	NM_001130145.3(YAP1):c.322-247C>T	noncoding	Benign
11	102113987	A	G	A102113987G	YAP1	NM_001130145.3(YAP1):c.322-157A>G	noncoding	Benign
11	102114571	C	T	C102114571T	YAP1	NM_001130145.3(YAP1):c.572+177C>T	noncoding	Benign
11	102186337	C	A	C102186337A	YAP1	NM_001130145.3(YAP1):c.802+206C>A	noncoding	Benign
11	102209255	G	A	G102209255A	YAP1	NM_001130145.3(YAP1):c.985-262G>A	noncoding	Benign
11	102209497	G	A	G102209497A	YAP1	NM_001130145.3(YAP1):c.985-20G>A	noncoding	Benign
11	102227623	G	C	G102227623C	YAP1	NM_001130145.3(YAP1):c.1276+42G>C	noncoding	Benign
11	102377646	C	T	C102377646T	BIRC2	NM_001166.5(BIRC2):c.1517C>T:p.Ala506Val	coding	Benign
11	102577525	A	G	A102577525G	MMP20	NM_004771.4(MMP20):c.1352-99T>C	noncoding	Benign
11	102577753	C	T	C102577753T	MMP20	NM_004771.4(MMP20):c.1352-327G>A	noncoding	Benign
11	102578919	T	A	T102578919A	MMP20	NM_004771.4(MMP20):c.1351+120A>T	noncoding	Benign
11	102579200	T	C	T102579200C	MMP20	NM_004771.4(MMP20):c.1248-58A>G	noncoding	Benign
11	102579220	A	C	A102579220C	MMP20	NM_004771.4(MMP20):c.1248-78T>G	noncoding	Benign
11	102593219	A	G	A102593219G	MMP20	NM_004771.4(MMP20):c.1247+220T>C	noncoding	Benign
11	102593564	T	G	T102593564G	MMP20	NM_004771.4(MMP20):c.1122A>C:p.Gln374His	coding	Pathogenic
11	102593720	C	T	C102593720T	MMP20	NM_004771.4(MMP20):c.1091-125G>A	noncoding	Benign
11	102594420	C	G	C102594420G	MMP20	NM_004771.4(MMP20):c.1090+201G>C	noncoding	Benign
11	102594495	C	T	C102594495T	MMP20	NM_004771.4(MMP20):c.1090+126G>A	noncoding	Benign
11	102594550	G	A	G102594550A	MMP20	NM_004771.4(MMP20):c.1090+71C>T	noncoding	Benign
11	102606228	C	G	C102606228G	MMP20	NM_004771.4(MMP20):c.953+307G>C	noncoding	Benign
11	102606275	A	G	A102606275G	MMP20	NM_004771.4(MMP20):c.953+260T>C	noncoding	Benign
11	102606315	T	C	T102606315C	MMP20	NM_004771.4(MMP20):c.953+220A>G	noncoding	Benign
11	102606401	A	C	A102606401C	MMP20	NM_004771.4(MMP20):c.953+134T>G	noncoding	Benign
11	102606495	A	G	A102606495G	MMP20	NM_004771.4(MMP20):c.953+40T>C	noncoding	Benign
11	102606784	T	C	T102606784C	MMP20	NM_004771.4(MMP20):c.812-108A>G	noncoding	Benign
11	102606825	C	T	C102606825T	MMP20	NM_004771.4(MMP20):c.812-149G>A	noncoding	Benign
11	102606910	G	A	G102606910A	MMP20	NM_004771.4(MMP20):c.812-234C>T	noncoding	Benign
11	102608687	T	C	T102608687C	MMP20	NM_004771.4(MMP20):c.811+250A>G	noncoding	Benign
11	102608807	A	G	A102608807G	MMP20	NM_004771.4(MMP20):c.811+130T>C	noncoding	Benign
11	102608818	T	C	T102608818C	MMP20	NM_004771.4(MMP20):c.811+119A>G	noncoding	Benign
11	102608824	T	C	T102608824C	MMP20	NM_004771.4(MMP20):c.811+113A>G	noncoding	Benign
11	102609038	G	T	G102609038T	MMP20	NM_004771.4(MMP20):c.710C>A:p.Ser237Tyr	coding	Pathogenic
11	102609690	G	A	G102609690A	MMP20	NM_004771.4(MMP20):c.649+215C>T	noncoding	Benign
11	102609929	C	G	C102609929G	MMP20	NM_004771.4(MMP20):c.625G>C:p.Glu209Gln	coding	Pathogenic
11	102610052	C	T	C102610052T	MMP20	NM_004771.4(MMP20):c.524-22G>A	noncoding	Benign
11	102610347	G	A	G102610347A	MMP20	NM_004771.4(MMP20):c.524-317C>T	noncoding	Benign
11	102612007	G	A	G102612007A	MMP20	NM_004771.4(MMP20):c.375-104C>T	noncoding	Benign
11	102617342	G	A	G102617342A	MMP20	NM_004771.4(MMP20):c.127-283C>T	noncoding	Benign
11	102624981	C	A	C102624981A	MMP20	NM_004771.4(MMP20):c.126+213G>T	noncoding	Benign
11	102624987	G	C	G102624987C	MMP20	NM_004771.4(MMP20):c.126+207C>G	noncoding	Benign
11	102625014	C	T	C102625014T	MMP20	NM_004771.4(MMP20):c.126+180G>A	noncoding	Benign
11	102780582	G	C	G102780582C	MMP10	NM_002425.3(MMP10):c.10C>G:p.Leu4Val	coding	Benign
11	102790143	G	A	G102790143A	MMP1	NM_002421.4(MMP1):c.*269C>T	noncoding	Benign
11	102790228	A	G	A102790228G	MMP1	NM_002421.4(MMP1):c.*184T>C	noncoding	Benign
11	102790349	G	A	G102790349A	MMP1	NM_002421.4(MMP1):c.*63C>T	noncoding	Benign
11	102790368	T	C	T102790368C	MMP1	NM_002421.4(MMP1):c.*44A>G	noncoding	Benign
11	102790545	T	G	T102790545G	MMP1	NM_002421.4(MMP1):c.1301-24A>C	noncoding	Benign
11	102790864	A	G	A102790864G	MMP1	NM_002421.4(MMP1):c.1197-58T>C	noncoding	Benign
11	102790934	G	A	G102790934A	MMP1	NM_002421.4(MMP1):c.1197-128C>T	noncoding	Benign
11	102791026	G	A	G102791026A	MMP1	NM_002421.4(MMP1):c.1197-220C>T	noncoding	Benign
11	102791082	G	C	G102791082C	MMP1	NM_002421.4(MMP1):c.1196+251C>G	noncoding	Benign
11	102791735	T	C	T102791735C	MMP1	NM_002421.4(MMP1):c.1034-240A>G	noncoding	Benign
11	102792772	T	C	T102792772C	MMP1	NM_002421.4(MMP1):c.900-34A>G	noncoding	Benign
11	102792977	T	G	T102792977G	MMP1	NM_002421.4(MMP1):c.900-239A>C	noncoding	Benign
11	102794938	T	C	T102794938C	MMP1	NM_002421.4(MMP1):c.899+236A>G	noncoding	Benign
11	102794953	A	T	A102794953T	MMP1	NM_002421.4(MMP1):c.899+221T>A	noncoding	Benign
11	102795306	A	G	A102795306G	MMP1	NM_002421.4(MMP1):c.782-15T>C	noncoding	Benign
11	102795312	A	G	A102795312G	MMP1	NM_002421.4(MMP1):c.782-21T>C	noncoding	Benign
11	102795433	T	C	T102795433C	MMP1	NM_002421.4(MMP1):c.781+19A>G	noncoding	Benign
11	102795826	C	A	C102795826A	MMP1	NM_002421.4(MMP1):c.626-219G>T	noncoding	Benign
11	102795924	G	T	G102795924T	MMP1	NM_002421.4(MMP1):c.626-317C>A	noncoding	Benign
11	102796332	C	T	C102796332T	MMP1	NM_002421.4(MMP1):c.625+332G>A	noncoding	Benign
11	102797955	T	A	T102797955A	MMP1	NM_002421.4(MMP1):c.105+33A>T	noncoding	Benign
11	102797956	T	G	T102797956G	MMP1	NM_002421.4(MMP1):c.105+32A>C	noncoding	Benign
11	102797971	T	C	T102797971C	MMP1	NM_002421.4(MMP1):c.105+17A>G	noncoding	Benign
11	102798151	G	A	G102798151A	MMP1	NM_002421.4(MMP1):c.-59C>T	noncoding	Benign
11	102798479	A	G	A102798479G	MMP1	Single_allele	noncoding	Benign
11	102798499	A	G	A102798499G	MMP1	Single_allele	noncoding	Benign
11	102798678	T	C	T102798678C	MMP1	Single_allele	noncoding	Benign
11	102836574	G	A	G102836574A	MMP3	NM_002422.5(MMP3):c.1334-348C>T	coding	Benign
11	102837183	A	G	A102837183G	MMP3	NM_002422.5(MMP3):c.1333+115T>C	noncoding	Benign
11	102838791	T	A	T102838791A	MMP3	NM_002422.5(MMP3):c.1070-81A>T	noncoding	Benign
11	102839352	G	A	G102839352A	MMP3	NM_002422.5(MMP3):c.936-109C>T	noncoding	Benign
11	102839976	T	A	T102839976A	MMP3	NM_002422.5(MMP3):c.935+132A>T	noncoding	Benign
11	102840850	C	G	C102840850G	MMP3	NM_002422.5(MMP3):c.626-257G>C	noncoding	Benign
11	102842315	C	T	C102842315T	MMP3	NM_002422.5(MMP3):c.500-36G>A	noncoding	Benign
11	102842394	T	C	T102842394C	MMP3	NM_002422.5(MMP3):c.499+37A>G	noncoding	Benign
11	102842429	A	T	A102842429T	MMP3	NM_002422.5(MMP3):c.499+2T>A	noncoding	Benign
11	102843046	G	C	G102843046C	MMP3	NM_002422.5(MMP3):c.106-130C>G	noncoding	Benign
11	102843985	C	G	C102843985G	MMP3	Single_allele	noncoding	Benign
11	102944347	G	A	G102944347A	MMP13	NM_002427.4(MMP13):c.1335C>T:p.Asn445=	coding	Benign/Likely_benign
11	102945614	C	G	C102945614G	MMP13	NM_002427.4(MMP13):c.1315+32G>C	noncoding	Benign
11	102945627	G	A	G102945627A	MMP13	NM_002427.4(MMP13):c.1315+19C>T	noncoding	Benign
11	102945934	C	T	C102945934T	MMP13	NM_002427.4(MMP13):c.1212-185G>A	noncoding	Benign
11	102946003	A	G	A102946003G	MMP13	NM_002427.4(MMP13):c.1212-254T>C	noncoding	Benign
11	102948283	G	A	G102948283A	MMP13	NM_002427.4(MMP13):c.1052-233C>T	noncoding	Benign
11	102948287	A	G	A102948287G	MMP13	NM_002427.4(MMP13):c.1052-237T>C	noncoding	Benign
11	102948726	A	G	A102948726G	MMP13	NM_002427.4(MMP13):c.1051+299T>C	noncoding	Benign
11	102948845	T	C	T102948845C	MMP13	NM_002427.4(MMP13):c.1051+180A>G	noncoding	Benign
11	102949102	G	T	G102949102T	MMP13	NM_002427.4(MMP13):c.974C>A:p.Ser325Ter	coding	Pathogenic
11	102949187	G	A	G102949187A	MMP13	NM_002427.4(MMP13):c.918-29C>T	noncoding	Benign
11	102949239	C	G	C102949239G	MMP13	NM_002427.4(MMP13):c.918-81G>C	noncoding	Benign
11	102949781	C	T	C102949781T	MMP13	NM_002427.4(MMP13):c.917+329G>A	noncoding	Benign
11	102949926	C	T	C102949926T	MMP13	NM_002427.4(MMP13):c.917+184G>A	noncoding	Benign
11	102951920	T	C	T102951920C	MMP13	NM_002427.4(MMP13):c.799+92A>G	noncoding	Benign
11	102954097	T	C	T102954097C	MMP13	NM_002427.4(MMP13):c.637+59A>G	noncoding	Benign
11	102954174	A	C	A102954174C	MMP13	NM_002427.4(MMP13):c.619T>G:p.Trp207Gly	coding	Pathogenic/Likely_pathogenic
11	102954362	T	G	T102954362G	MMP13	NM_002427.4(MMP13):c.512-81A>C	noncoding	Benign
11	102954623	G	C	G102954623C	MMP13	NM_002427.4(MMP13):c.363-17C>G	noncoding	Benign
11	102954906	T	C	T102954906C	MMP13	NM_002427.4(MMP13):c.363-300A>G	noncoding	Benign
11	102955476	G	C	G102955476C	MMP13	NM_002427.4(MMP13):c.138C>G:p.Tyr46Ter	coding	Pathogenic
11	102955810	C	T	C102955810T	MMP13	NC_000011.9:g.102826539C>T	noncoding	Benign
11	102956023	T	A	T102956023A	MMP13	Single_allele	noncoding	Benign
11	103109576	T	C	T103109576C	DYNC2H1	NM_001377.3(DYNC2H1):c.2T>C:p.Met1Thr	coding	Pathogenic
11	103114070	C	T	C103114070T	DYNC2H1	NM_001377.3(DYNC2H1):c.367-33C>T	noncoding	Benign
11	103114235	C	T	C103114235T	DYNC2H1	NM_001377.3(DYNC2H1):c.499C>T:p.Arg167Ter	coding	Pathogenic/Likely_pathogenic
11	103114289	A	G	A103114289G	DYNC2H1	NM_001377.3(DYNC2H1):c.502+51A>G	noncoding	Benign
11	103115210	G	A	G103115210A	DYNC2H1	NM_001377.3(DYNC2H1):c.536G>A:p.Trp179Ter	coding	Pathogenic
11	103115323	T	C	T103115323C	DYNC2H1	NM_001377.3(DYNC2H1):c.621+28T>C	noncoding	Benign
11	103121515	G	A	G103121515A	DYNC2H1	NM_001377.3(DYNC2H1):c.1485+19G>A	noncoding	Benign/Likely_benign
11	103121767	T	C	T103121767C	DYNC2H1	NM_001377.3(DYNC2H1):c.1485+271T>C	noncoding	Benign
11	103129019	T	C	T103129019C	DYNC2H1	NM_001377.3(DYNC2H1):c.1953+14T>C	noncoding	Benign/Likely_benign
11	103133338	A	G	A103133338G	DYNC2H1	NM_001377.3(DYNC2H1):c.1954-217A>G	noncoding	Benign
11	103133609	G	T	G103133609T	DYNC2H1	NM_001377.3(DYNC2H1):c.2008G>T:p.Glu670Ter	coding	Pathogenic
11	103134354	C	T	C103134354T	DYNC2H1	NM_001377.3(DYNC2H1):c.2140C>T:p.Gln714Ter	coding	Pathogenic
11	103134596	A	G	A103134596G	DYNC2H1	NM_001377.3(DYNC2H1):c.2205+177A>G	noncoding	Benign
11	103135166	G	A	G103135166A	DYNC2H1	NM_001377.3(DYNC2H1):c.2206-329G>A	noncoding	Benign
11	103143225	G	T	G103143225T	DYNC2H1	NM_001377.3(DYNC2H1):c.2575-43G>T	noncoding	Benign
11	103147888	G	C	G103147888C	DYNC2H1	NM_001377.3(DYNC2H1):c.2818+1G>C	coding	Pathogenic
11	103148063	A	G	A103148063G	DYNC2H1	NM_001377.3(DYNC2H1):c.2818+176A>G	noncoding	Benign
11	103148714	C	G	C103148714G	DYNC2H1	NM_001377.3(DYNC2H1):c.2946+97C>G	noncoding	Benign
11	103152265	C	T	C103152265T	DYNC2H1	NM_001377.3(DYNC2H1):c.3076C>T:p.Gln1026Ter	coding	Pathogenic
11	103154479	G	A	G103154479A	DYNC2H1	NM_001377.3(DYNC2H1):c.3331G>A:p.Glu1111Lys	coding	Pathogenic
11	103154594	G	A	G103154594A	DYNC2H1	NM_001377.3(DYNC2H1):c.3446G>A:p.Trp1149Ter	coding	Pathogenic
11	103154694	G	A	G103154694A	DYNC2H1	NM_001377.3(DYNC2H1):c.3459-1G>A	noncoding	Pathogenic
11	103155283	A	T	A103155283T	DYNC2H1	NM_001377.3(DYNC2H1):c.3574-48A>T	noncoding	Benign
11	103156736	C	T	C103156736T	DYNC2H1	NM_001377.3(DYNC2H1):c.4093C>T:p.Gln1365Ter	coding	Pathogenic
11	103156875	C	T	C103156875T	DYNC2H1	NM_001377.3(DYNC2H1):c.4127+105C>T	noncoding	Benign
11	103158644	G	A	G103158644A	DYNC2H1	NM_001377.3(DYNC2H1):c.4128-33G>A	noncoding	Benign
11	103159048	A	T	A103159048T	DYNC2H1	NM_001377.3(DYNC2H1):c.4378+21A>T	noncoding	Benign
11	103160686	G	A	G103160686A	DYNC2H1	NM_001377.3(DYNC2H1):c.4379-246G>A	noncoding	Benign
11	103160982	A	T	A103160982T	DYNC2H1	NM_001377.3(DYNC2H1):c.4429A>T:p.Lys1477Ter	coding	Pathogenic
11	103163185	A	T	A103163185T	DYNC2H1	NM_001377.3(DYNC2H1):c.4611+38A>T	noncoding	Benign
11	103163187	C	T	C103163187T	DYNC2H1	NM_001377.3(DYNC2H1):c.4611+40C>T	noncoding	Benign
11	103163463	G	A	G103163463A	DYNC2H1	NM_001377.3(DYNC2H1):c.4611+316G>A	noncoding	Benign
11	103166104	A	G	A103166104G	DYNC2H1	NM_001377.3(DYNC2H1):c.4762+56A>G	noncoding	Benign
11	103170455	T	C	T103170455C	DYNC2H1	NM_001377.3(DYNC2H1):c.5151+165T>C	noncoding	Benign
11	103170910	C	T	C103170910T	DYNC2H1	NM_001377.3(DYNC2H1):c.5176C>T:p.Arg1726Ter	coding	Pathogenic
11	103174365	A	G	A103174365G	DYNC2H1	NM_001377.3(DYNC2H1):c.5674+195A>G	noncoding	Benign
11	103177664	G	A	G103177664A	DYNC2H1	NM_001377.3(DYNC2H1):c.5983G>A:p.Ala1995Thr	coding	Pathogenic
11	103178909	T	C	T103178909C	DYNC2H1	NM_001377.3(DYNC2H1):c.6140-117T>C	noncoding	Benign
11	103179299	A	G	A103179299G	DYNC2H1	NM_001377.3(DYNC2H1):c.6347+66A>G	noncoding	Benign
11	103181873	G	A	G103181873A	DYNC2H1	NM_001377.3(DYNC2H1):c.6464G>A:p.Trp2155Ter	coding	Pathogenic
11	103181900	A	T	A103181900T	DYNC2H1	NM_001377.3(DYNC2H1):c.6477+14A>T	noncoding	Benign/Likely_benign
11	103185032	G	A	G103185032A	DYNC2H1	NM_001377.3(DYNC2H1):c.6614G>A:p.Arg2205His	coding	Pathogenic/Likely_pathogenic
11	103187587	G	A	G103187587A	DYNC2H1	NM_001377.3(DYNC2H1):c.7140+1G>A	coding	Pathogenic
11	103188471	T	C	T103188471C	DYNC2H1	NM_001377.3(DYNC2H1):c.7141-26T>C	noncoding	Benign
11	103188903	A	G	A103188903G	DYNC2H1	NM_001377.3(DYNC2H1):c.7292+255A>G	noncoding	Benign
11	103189580	A	G	A103189580G	DYNC2H1	NM_001377.3(DYNC2H1):c.7293-92A>G	noncoding	Benign
11	103189759	G	A	G103189759A	DYNC2H1	NM_001377.3(DYNC2H1):c.7380G>A:p.Trp2460Ter	coding	Pathogenic
11	103191334	C	T	C103191334T	DYNC2H1	NM_001377.3(DYNC2H1):c.7438-183C>T	noncoding	Benign
11	103199146	A	G	A103199146G	DYNC2H1	NM_001377.3(DYNC2H1):c.7840-82A>G	noncoding	Benign
11	103199246	C	T	C103199246T	DYNC2H1	NM_001377.3(DYNC2H1):c.7858C>T:p.Arg2620Ter	coding	Pathogenic
11	103203620	C	T	C103203620T	DYNC2H1	NM_001377.3(DYNC2H1):c.8198-43C>T	noncoding	Benign
11	103203775	T	G	T103203775G	DYNC2H1	NM_001377.3(DYNC2H1):c.8310T>G:p.Tyr2770Ter	coding	Pathogenic/Likely_pathogenic
11	103205161	A	T	A103205161T	DYNC2H1	NM_001377.3(DYNC2H1):c.8454+197A>T	noncoding	Benign
11	103205258	C	A	C103205258A	DYNC2H1	NM_001377.3(DYNC2H1):c.8454+294C>A	noncoding	Benign
11	103209628	A	G	A103209628G	DYNC2H1	NM_001377.3(DYNC2H1):c.8455-248A>G	noncoding	Benign
11	103215652	G	T	G103215652T	DYNC2H1	NM_001377.3(DYNC2H1):c.8695-69G>T	noncoding	Benign
11	103220258	T	C	T103220258C	DYNC2H1	NM_001377.3(DYNC2H1):c.8946+230T>C	noncoding	Benign
11	103220508	A	G	A103220508G	DYNC2H1	NM_001377.3(DYNC2H1):c.8947-115A>G	noncoding	Benign
11	103220817	G	A	G103220817A	DYNC2H1	NM_001377.3(DYNC2H1):c.9107+34G>A	noncoding	Benign
11	103222216	A	G	A103222216G	DYNC2H1	NM_001377.3(DYNC2H1):c.9231+63A>G	noncoding	Benign
11	103222239	C	T	C103222239T	DYNC2H1	NM_001377.3(DYNC2H1):c.9231+86C>T	noncoding	Benign
11	103222252	C	T	C103222252T	DYNC2H1	NM_001377.3(DYNC2H1):c.9231+99C>T	noncoding	Benign
11	103233832	G	A	G103233832A	DYNC2H1	NM_001377.3(DYNC2H1):c.9441-202G>A	noncoding	Benign
11	103233834	G	A	G103233834A	DYNC2H1	NM_001377.3(DYNC2H1):c.9441-200G>A	noncoding	Benign
11	103233840	G	A	G103233840A	DYNC2H1	NM_001377.3(DYNC2H1):c.9441-194G>A	noncoding	Benign
11	103233888	C	T	C103233888T	DYNC2H1	NM_001377.3(DYNC2H1):c.9441-146C>T	noncoding	Benign
11	103234201	C	A	C103234201A	DYNC2H1	NM_001377.3(DYNC2H1):c.9567+41C>A	noncoding	Benign
11	103234435	C	A	C103234435A	DYNC2H1	NM_001377.3(DYNC2H1):c.9567+275C>A	noncoding	Benign
11	103235742	A	G	A103235742G	DYNC2H1	NM_001377.3(DYNC2H1):c.9638A>G:p.Tyr3213Cys	coding	Pathogenic
11	103236537	C	T	C103236537T	DYNC2H1	NM_001377.3(DYNC2H1):c.9817C>T:p.Gln3273Ter	coding	Pathogenic
11	103236717	A	G	A103236717G	DYNC2H1	NM_001377.3(DYNC2H1):c.9819+178A>G	noncoding	Benign
11	103241750	C	G	C103241750G	DYNC2H1	NM_001377.3(DYNC2H1):c.9820-1943C>G	noncoding	Benign
11	103243696	C	T	C103243696T	DYNC2H1	NM_001377.3(DYNC2H1):c.9823C>T:p.Arg3275Ter	coding	Pathogenic
11	103252998	C	T	C103252998T	DYNC2H1	NM_001377.3(DYNC2H1):c.10043-287C>T	noncoding	Benign
11	103253384	C	T	C103253384T	DYNC2H1	NM_001377.3(DYNC2H1):c.10142C>T:p.Pro3381Leu	coding	Pathogenic/Likely_pathogenic
11	103255200	G	C	G103255200C	DYNC2H1	NM_001377.3(DYNC2H1):c.10207-215G>C	noncoding	Benign
11	103255567	G	A	G103255567A	DYNC2H1	NM_001377.3(DYNC2H1):c.10326+33G>A	noncoding	Benign
11	103255970	G	T	G103255970T	DYNC2H1	NM_001377.3(DYNC2H1):c.10327-136G>T	noncoding	Benign
11	103256336	T	C	T103256336C	DYNC2H1	NM_001377.3(DYNC2H1):c.10461+96T>C	noncoding	Benign
11	103257781	C	T	C103257781T	DYNC2H1	NM_001377.3(DYNC2H1):c.10605+30C>T	noncoding	Benign
11	103281946	A	G	A103281946G	DYNC2H1	NM_001377.3(DYNC2H1):c.10762-233A>G	noncoding	Benign
11	103283134	A	G	A103283134G	DYNC2H1	NM_001377.3(DYNC2H1):c.10890+49A>G	noncoding	Benign
11	103285959	C	T	C103285959T	DYNC2H1	NM_001377.3(DYNC2H1):c.10891-296C>T	noncoding	Benign
11	103286077	T	C	T103286077C	DYNC2H1	NM_001377.3(DYNC2H1):c.10891-178T>C	noncoding	Benign
11	103286381	C	T	C103286381T	DYNC2H1	NM_001377.3(DYNC2H1):c.11017C>T:p.Gln3673Ter	coding	Pathogenic
11	103303053	A	C	A103303053C	DYNC2H1	NM_001377.3(DYNC2H1):c.11096-40A>C	noncoding	Benign
11	103303064	A	C	A103303064C	DYNC2H1	NM_001377.3(DYNC2H1):c.11096-29A>C	noncoding	Benign
11	103304768	C	T	C103304768T	DYNC2H1	NM_001377.3(DYNC2H1):c.11382+48C>T	noncoding	Benign
11	103304846	A	C	A103304846C	DYNC2H1	NM_001377.3(DYNC2H1):c.11382+126A>C	noncoding	Benign
11	103307413	T	C	T103307413C	DYNC2H1	NM_001377.3(DYNC2H1):c.11383-308T>C	noncoding	Benign
11	103307610	C	T	C103307610T	DYNC2H1	NM_001377.3(DYNC2H1):c.11383-111C>T	noncoding	Benign
11	103308121	G	C	G103308121C	DYNC2H1	NM_001377.3(DYNC2H1):c.11493+290G>C	noncoding	Benign
11	103311612	C	G	C103311612G	DYNC2H1	NM_001377.3(DYNC2H1):c.11494-266C>G	noncoding	Benign
11	103316476	C	T	C103316476T	DYNC2H1	NM_001377.3(DYNC2H1):c.11650-69C>T	noncoding	Benign
11	103316572	T	C	T103316572C	DYNC2H1	NM_001377.3(DYNC2H1):c.11677T>C:p.Leu3893=	coding	Benign
11	103316908	G	A	G103316908A	DYNC2H1	NM_001377.3(DYNC2H1):c.11725+288G>A	noncoding	Benign
11	103320943	G	T	G103320943T	DYNC2H1	NM_001377.3(DYNC2H1):c.11726-86G>T	noncoding	Benign
11	103321310	T	C	T103321310C	DYNC2H1	NM_001377.3(DYNC2H1):c.11934+73T>C	noncoding	Benign
11	103358195	C	G	C103358195G	DYNC2H1	NM_001377.3(DYNC2H1):c.12040-48C>G	noncoding	Benign
11	103358382	G	A	G103358382A	DYNC2H1	NM_001377.3(DYNC2H1):c.12156+23G>A	noncoding	Benign
11	103358445	A	C	A103358445C	DYNC2H1	NM_001377.3(DYNC2H1):c.12156+86A>C	noncoding	Benign
11	103358460	G	C	G103358460C	DYNC2H1	NM_001377.3(DYNC2H1):c.12156+101G>C	noncoding	Benign
11	103399744	C	T	C103399744T	DYNC2H1	NM_001377.3(DYNC2H1):c.12238C>T:p.Gln4080Ter	coding	Pathogenic
11	103400153	C	G	C103400153G	DYNC2H1	NM_001377.3(DYNC2H1):c.12366+281C>G	noncoding	Benign
11	103435866	C	T	C103435866T	DYNC2H1	NM_001377.3(DYNC2H1):c.12367-77C>T	noncoding	Benign
11	103455072	C	A	C103455072A	DYNC2H1	NM_001377.3(DYNC2H1):c.12457-114C>A	noncoding	Benign
11	103455312	A	G	A103455312G	DYNC2H1	NM_001377.3(DYNC2H1):c.12566+17A>G	noncoding	Benign/Likely_benign
11	103456445	C	T	C103456445T	DYNC2H1	NM_001377.3(DYNC2H1):c.12648+89C>T	noncoding	Benign
11	103468518	G	A	G103468518A	DYNC2H1	NM_001377.3(DYNC2H1):c.12649-71G>A	noncoding	Benign
11	103479518	C	T	C103479518T	DYNC2H1	NM_001377.3(DYNC2H1):c.*265C>T	noncoding	Benign/Likely_benign
11	105610311	C	T	C105610311T	GRIA4	NM_000829.4(GRIA4):c.-208C>T	noncoding	Benign
11	105862109	T	G	T105862109G	GRIA4	NM_000829.4(GRIA4):c.573T>G:p.Asp191Glu	coding	Benign
11	105926811	G	T	G105926811T	GRIA4	NM_000829.4(GRIA4):c.1918G>T:p.Ala640Ser	coding	Pathogenic
11	105974348	C	T	C105974348T	GRIA4	NM_000829.4(GRIA4):c.2448C>T:p.Gly816_Val817=	coding	Benign
11	107511039	G	A	G107511039A	ALKBH8	NM_138775.3(ALKBH8):c.1288-3C>T	noncoding	Benign
11	107525432	T	C	T107525432C	ALKBH8	NM_138775.3(ALKBH8):c.1030+9A>G	noncoding	Benign
11	107532269	A	T	A107532269T	ALKBH8	NM_138775.3(ALKBH8):c.878+31T>A	noncoding	Benign
11	107549804	A	G	A107549804G	ALKBH8	NM_138775.3(ALKBH8):c.720T>C:p.Asp240=	coding	Benign
11	108046360	A	G	A108046360G	CUL5	NM_003478.6(CUL5):c.225A>G:p.Gln75=	coding	Benign
11	108131718	T	C	T108131718C	ACAT1	NM_000019.4(ACAT1):c.73-189T>C	noncoding	Benign
11	108133939	T	A	T108133939A	ACAT1	NM_000019.4(ACAT1):c.238+2T>A	noncoding	Pathogenic
11	108133954	C	T	C108133954T	ACAT1	NM_000019.4(ACAT1):c.238+17C>T	noncoding	Benign
11	108133960	G	A	G108133960A	ACAT1	NM_000019.4(ACAT1):c.238+23G>A	noncoding	Benign
11	108134071	A	C	A108134071C	ACAT1	NM_000019.4(ACAT1):c.238+134A>C	noncoding	Benign
11	108134298	C	T	C108134298T	ACAT1	NM_000019.4(ACAT1):c.316C>T:p.Gln106Ter	coding	Pathogenic
11	108135240	C	T	C108135240T	ACAT1	NM_000019.4(ACAT1):c.433C>T:p.Gln145Ter	coding	Pathogenic
11	108135320	A	C	A108135320C	ACAT1	NM_000019.4(ACAT1):c.435+78A>C	noncoding	Benign
11	108135378	G	A	G108135378A	ACAT1	NM_000019.4(ACAT1):c.435+136G>A	noncoding	Benign
11	108139009	G	A	G108139009A	ACAT1	NM_000019.4(ACAT1):c.547G>A:p.Gly183Arg	coding	Pathogenic/Likely_pathogenic
11	108139200	G	A	G108139200A	ACAT1	NM_000019.4(ACAT1):c.579+159G>A	noncoding	Benign
11	108141350	G	A	G108141350A	ACAT1	NM_000019.4(ACAT1):c.731-255G>A	noncoding	Benign
11	108141603	A	G	A108141603G	ACAT1	NM_000019.4(ACAT1):c.731-2A>G	noncoding	Pathogenic
11	108141607	C	T	C108141607T	ACAT1	NM_000019.4(ACAT1):c.733C>T:p.Gln245Ter	coding	Pathogenic
11	108141637	G	T	G108141637T	ACAT1	NM_000019.4(ACAT1):c.763G>T:p.Glu255Ter	coding	Pathogenic
11	108141661	A	T	A108141661T	ACAT1	NM_000019.4(ACAT1):c.787A>T:p.Lys263Ter	coding	Pathogenic
11	108141702	T	C	T108141702C	ACAT1	NM_000019.4(ACAT1):c.826+2T>C	noncoding	Pathogenic
11	108142279	T	A	T108142279A	ACAT1	NM_000019.4(ACAT1):c.827-158T>A	noncoding	Benign
11	108142366	A	G	A108142366G	ACAT1	NM_000019.4(ACAT1):c.827-71A>G	noncoding	Benign
11	108142545	T	C	T108142545C	ACAT1	NM_000019.4(ACAT1):c.935T>C:p.Ile312Thr	coding	Pathogenic/Likely_pathogenic
11	108142634	C	T	C108142634T	ACAT1	NM_000019.4(ACAT1):c.940+84C>T	noncoding	Benign
11	108142644	C	T	C108142644T	ACAT1	NM_000019.4(ACAT1):c.940+94C>T	noncoding	Benign
11	108143908	A	C	A108143908C	ACAT1	NM_000019.4(ACAT1):c.941-75A>C	noncoding	Benign
11	108144072	C	T	C108144072T	ACAT1	NM_000019.4(ACAT1):c.1005+25C>T	noncoding	Benign
11	108144222	A	C	A108144222C	ACAT1	NM_000019.4(ACAT1):c.1005+175A>C	noncoding	Benign
11	108146236	T	C	T108146236C	ACAT1	NM_000019.4(ACAT1):c.1040T>C:p.Ile347Thr	coding	Pathogenic/Likely_pathogenic
11	108146296	T	A	T108146296A	ACAT1	NM_000019.4(ACAT1):c.1100T>A:p.Leu367Ter	coding	Pathogenic
11	108146310	C	T	C108146310T	ACAT1	NM_000019.4(ACAT1):c.1114C>T:p.Gln372Ter	coding	Pathogenic
11	108146313	A	T	A108146313T	ACAT1	NM_000019.4(ACAT1):c.1117A>T:p.Lys373Ter	coding	Pathogenic
11	108146356	T	C	T108146356C	ACAT1	NM_000019.4(ACAT1):c.1160T>C:p.Ile387Thr	coding	Pathogenic/Likely_pathogenic
11	108146360	G	A	G108146360A	ACAT1	NM_000019.4(ACAT1):c.1163+1G>A	coding	Pathogenic
11	108147295	C	A	C108147295A	ACAT1	NM_000019.4(ACAT1):c.1189C>A:p.His397Asn	coding	Pathogenic
11	108147295	C	G	C108147295G	ACAT1	NM_000019.4(ACAT1):c.1189C>G:p.His397Asp	coding	Pathogenic/Likely_pathogenic
11	108161440	T	C	T108161440C	NPAT	NM_002519.3(NPAT):c.3646A>G:p.Asn1216Asp	coding	Benign
11	108161506	C	A	C108161506A	NPAT	NM_002519.3(NPAT):c.3580G>T:p.Gly1194Cys	coding	Benign
11	108161887	C	T	C108161887T	NPAT	NM_002519.3(NPAT):c.3199G>A:p.Asp1067Asn	coding	Benign
11	108172538	T	C	T108172538C	NPAT	NM_002519.3(NPAT):c.2446A>G:p.Thr816Ala	coding	Benign/Likely_benign
11	108173478	A	C	A108173478C	NPAT	NM_002519.3(NPAT):c.1506T>G:p.Pro502=	coding	Benign/Likely_benign
11	108185471	T	C	T108185471C	NPAT	NM_002519.3(NPAT):c.750A>G:p.Arg250=	coding	Benign/Likely_benign
11	108223190	G	C	G108223190C	ATM	NM_000051.4(ATM):c.-31+4G>C	noncoding	Benign
11	108227516	A	G	A108227516G	ATM	NM_000051.4(ATM):c.-30-79A>G	noncoding	Benign
11	108227607	G	A	G108227607A	ATM	NM_000051.4(ATM):c.-18G>A	noncoding	Benign/Likely_benign
11	108227806	C	A	C108227806A	ATM	NM_000051.4(ATM):c.103C>A:p.Arg35=	coding	Benign/Likely_benign
11	108227874	G	A	G108227874A	ATM	NM_000051.4(ATM):c.171G>A:p.Trp57Ter	coding	Pathogenic
11	108229188	A	T	A108229188T	ATM	NM_000051.4(ATM):c.196A>T:p.Lys66Ter	coding	Pathogenic
11	108229203	G	T	G108229203T	ATM	NM_000051.4(ATM):c.211G>T:p.Glu71Ter	coding	Pathogenic
11	108229313	T	A	T108229313A	ATM	NM_000051.4(ATM):c.321T>A:p.Cys107Ter	coding	Pathogenic
11	108235599	A	G	A108235599G	ATM	NM_000051.4(ATM):c.332-71A>G	noncoding	Benign
11	108235669	G	A	G108235669A	ATM	NM_000051.4(ATM):c.332-1G>A	noncoding	Pathogenic
11	108235710	C	A	C108235710A	ATM	NM_000051.4(ATM):c.372C>A:p.Ile124=	coding	Benign/Likely_benign
11	108235830	G	A	G108235830A	ATM	NM_000051.4(ATM):c.492G>A:p.Trp164Ter	coding	Pathogenic
11	108235839	G	A	G108235839A	ATM	NM_000051.4(ATM):c.496+5G>A	noncoding	Pathogenic/Likely_pathogenic
11	108235854	G	C	G108235854C	ATM	NM_000051.4(ATM):c.496+20G>C	noncoding	Benign/Likely_benign
11	108236055	C	T	C108236055T	ATM	NM_000051.4(ATM):c.496+221C>T	noncoding	Benign
11	108243779	A	G	A108243779G	ATM	NM_000051.4(ATM):c.497-174A>G	noncoding	Benign
11	108243905	T	G	T108243905G	ATM	NM_000051.4(ATM):c.497-48T>G	noncoding	Benign
11	108243963	T	C	T108243963C	ATM	NM_000051.4(ATM):c.507T>C:p.Ser169=	coding	Benign/Likely_benign
11	108244066	G	T	G108244066T	ATM	NM_000051.4(ATM):c.610G>T:p.Gly204Ter	coding	Pathogenic
11	108244156	T	C	T108244156C	ATM	NM_000051.4(ATM):c.662+38T>C	noncoding	Benign
11	108244894	G	T	G108244894T	ATM	NM_000051.4(ATM):c.769G>T:p.Glu257Ter	coding	Pathogenic
11	108244981	C	T	C108244981T	ATM	NM_000051.4(ATM):c.856C>T:p.Gln286Ter	coding	Pathogenic
11	108245002	A	T	A108245002T	ATM	NM_000051.4(ATM):c.877A>T:p.Lys293Ter	coding	Pathogenic/Likely_pathogenic
11	108245028	T	C	T108245028C	ATM	NM_000051.4(ATM):c.901+2T>C	noncoding	Pathogenic/Likely_pathogenic
11	108245051	T	G	T108245051G	ATM	NM_000051.4(ATM):c.901+25T>G	noncoding	Benign
11	108246976	C	G	C108246976G	ATM	NM_000051.4(ATM):c.914C>G:p.Ser305Ter	coding	Pathogenic
11	108246981	A	T	A108246981T	ATM	NM_000051.4(ATM):c.919A>T:p.Lys307Ter	coding	Pathogenic
11	108247029	A	G	A108247029G	ATM	NM_000051.4(ATM):c.967A>G:p.Ile323Val	coding	Pathogenic/Likely_pathogenic
11	108247063	C	G	C108247063G	ATM	NM_000051.4(ATM):c.1001C>G:p.Ser334Ter	coding	Pathogenic
11	108247082	C	A	C108247082A	ATM	NM_000051.4(ATM):c.1020C>A:p.Ala340=	coding	Benign/Likely_benign
11	108247089	G	T	G108247089T	ATM	NM_000051.4(ATM):c.1027G>T:p.Glu343Ter	coding	Pathogenic
11	108247101	G	T	G108247101T	ATM	NM_000051.4(ATM):c.1039G>T:p.Glu347Ter	coding	Pathogenic
11	108247405	C	T	C108247405T	ATM	NM_000051.4(ATM):c.1065+278C>T	noncoding	Benign
11	108248911	T	G	T108248911G	ATM	NM_000051.4(ATM):c.1066-22T>G	noncoding	Benign
11	108248927	T	G	T108248927G	ATM	NM_000051.4(ATM):c.1066-6T>G	noncoding	Benign
11	108248940	A	G	A108248940G	ATM	NM_000051.4(ATM):c.1073A>G:p.Asn358Ser	coding	Benign
11	108249046	G	A	G108249046A	ATM	NM_000051.4(ATM):c.1179G>A:p.Trp393Ter	coding	Pathogenic
11	108249068	C	T	C108249068T	ATM	NM_000051.4(ATM):c.1201C>T:p.Gln401Ter	coding	Pathogenic
11	108250700	G	A	G108250700A	ATM	NM_000051.4(ATM):c.1236-1G>A	noncoding	Pathogenic/Likely_pathogenic
11	108250700	G	C	G108250700C	ATM	NM_000051.4(ATM):c.1236-1G>C	noncoding	Pathogenic/Likely_pathogenic
11	108250727	C	G	C108250727G	ATM	NM_000051.4(ATM):c.1262C>G:p.Ser421Ter	coding	Pathogenic
11	108250729	A	T	A108250729T	ATM	NM_000051.4(ATM):c.1264A>T:p.Lys422Ter	coding	Pathogenic/Likely_pathogenic
11	108250745	T	A	T108250745A	ATM	NM_000051.4(ATM):c.1280T>A:p.Leu427Ter	coding	Pathogenic
11	108250768	T	C	T108250768C	ATM	NM_000051.4(ATM):c.1303T>C:p.Leu435=	coding	Benign/Likely_benign
11	108250797	C	A	C108250797A	ATM	NM_000051.4(ATM):c.1332C>A:p.Pro444=	coding	Benign/Likely_benign
11	108250846	G	T	G108250846T	ATM	NM_000051.4(ATM):c.1381G>T:p.Glu461Ter	coding	Pathogenic
11	108250959	G	A	G108250959A	ATM	NM_000051.4(ATM):c.1494G>A:p.Glu498=	coding	Benign/Likely_benign
11	108250985	T	A	T108250985A	ATM	NM_000051.4(ATM):c.1520T>A:p.Leu507Ter	coding	Pathogenic
11	108251858	T	G	T108251858G	ATM	NM_000051.4(ATM):c.1629T>G:p.Thr543=	coding	Benign/Likely_benign
11	108251870	C	A	C108251870A	ATM	NM_000051.4(ATM):c.1641C>A:p.Thr547=	coding	Benign/Likely_benign
11	108251901	G	T	G108251901T	ATM	NM_000051.4(ATM):c.1672G>T:p.Gly558Ter	coding	Pathogenic
11	108251921	T	A	T108251921A	ATM	NM_000051.4(ATM):c.1692T>A:p.Cys564Ter	coding	Pathogenic/Likely_pathogenic
11	108251931	A	T	A108251931T	ATM	NM_000051.4(ATM):c.1702A>T:p.Arg568Ter	coding	Pathogenic
11	108251953	C	A	C108251953A	ATM	NM_000051.4(ATM):c.1724C>A:p.Ser575Ter	coding	Pathogenic
11	108251965	G	A	G108251965A	ATM	NM_000051.4(ATM):c.1736G>A:p.Trp579Ter	coding	Pathogenic
11	108251975	C	G	C108251975G	ATM	NM_000051.4(ATM):c.1746C>G:p.Phe582Leu	coding	Benign/Likely_benign
11	108252096	T	C	T108252096C	ATM	NM_000051.4(ATM):c.1802+65T>C	noncoding	Benign
11	108252896	C	T	C108252896T	ATM	NM_000051.4(ATM):c.1882C>T:p.Gln628Ter	coding	Pathogenic
11	108252901	C	T	C108252901T	ATM	NM_000051.4(ATM):c.1887C>T:p.Ser629=	coding	Benign/Likely_benign
11	108252908	G	T	G108252908T	ATM	NM_000051.4(ATM):c.1894G>T:p.Glu632Ter	coding	Pathogenic
11	108253572	G	A	G108253572A	ATM	NM_000051.4(ATM):c.1899-242G>A	noncoding	Benign
11	108253977	G	T	G108253977T	ATM	NM_000051.4(ATM):c.2062G>T:p.Glu688Ter	coding	Pathogenic
11	108254000	G	A	G108254000A	ATM	NM_000051.4(ATM):c.2085G>A:p.Leu695=	coding	Benign/Likely_benign
11	108254001	G	T	G108254001T	ATM	NM_000051.4(ATM):c.2086G>T:p.Gly696Ter	coding	Pathogenic
11	108254008	C	G	C108254008G	ATM	NM_000051.4(ATM):c.2093C>G:p.Ser698Ter	coding	Pathogenic
11	108254030	C	G	C108254030G	ATM	NM_000051.4(ATM):c.2115C>G:p.Tyr705Ter	coding	Pathogenic/Likely_pathogenic
11	108254034	T	C	T108254034C	ATM	NM_000051.4(ATM):c.2119T>C:p.Ser707Pro	coding	Benign/Likely_benign
11	108254053	A	G	A108254053G	ATM	NM_000051.4(ATM):c.2124+14A>G	noncoding	Benign/Likely_benign
11	108256225	C	G	C108256225G	ATM	NM_000051.4(ATM):c.2135C>G:p.Ser712Ter	coding	Pathogenic/Likely_pathogenic
11	108256238	C	G	C108256238G	ATM	NM_000051.4(ATM):c.2148C>G:p.Val716=	coding	Benign/Likely_benign
11	108256320	G	T	G108256320T	ATM	NM_000051.4(ATM):c.2230G>T:p.Glu744Ter	coding	Pathogenic
11	108256358	A	G	A108256358G	ATM	NM_000051.4(ATM):c.2250+18A>G	noncoding	Benign/Likely_benign
11	108256360	T	C	T108256360C	ATM	NM_000051.4(ATM):c.2250+20T>C	noncoding	Benign/Likely_benign
11	108256415	T	C	T108256415C	ATM	NM_000051.4(ATM):c.2250+75T>C	noncoding	Benign
11	108256561	T	C	T108256561C	ATM	NM_000051.4(ATM):c.2250+221T>C	noncoding	Benign
11	108257479	A	G	A108257479G	ATM	NM_000051.4(ATM):c.2251-2A>G	noncoding	Pathogenic
11	108257490	C	T	C108257490T	ATM	NM_000051.4(ATM):c.2260C>T:p.Gln754Ter	coding	Pathogenic
11	108257559	A	T	A108257559T	ATM	NM_000051.4(ATM):c.2329A>T:p.Arg777Ter	coding	Pathogenic
11	108258930	A	G	A108258930G	ATM	NM_000051.4(ATM):c.2377-56A>G	noncoding	Benign
11	108259037	A	T	A108259037T	ATM	NM_000051.4(ATM):c.2428A>T:p.Lys810Ter	coding	Pathogenic
11	108259162	T	G	T108259162G	ATM	NM_000051.4(ATM):c.2466+87T>G	noncoding	Benign/Likely_benign
11	108267214	C	G	C108267214G	ATM	NM_000051.4(ATM):c.2510C>G:p.Ser837Ter	coding	Pathogenic
11	108267276	T	C	T108267276C	ATM	NM_000051.4(ATM):c.2572T>C:p.Phe858Leu	coding	Benign/Likely_benign
11	108267278	T	G	T108267278G	ATM	NM_000051.4(ATM):c.2574T>G:p.Phe858Leu	coding	Benign
11	108267330	C	T	C108267330T	ATM	NM_000051.4(ATM):c.2626C>T:p.Gln876Ter	coding	Pathogenic
11	108267351	A	G	A108267351G	ATM	NM_000051.4(ATM):c.2638+9A>G	noncoding	Benign/Likely_benign
11	108267427	G	T	G108267427T	ATM	NM_000051.4(ATM):c.2638+85G>T	noncoding	Benign
11	108268026	A	G	A108268026G	ATM	NM_000051.4(ATM):c.2639-384A>G	noncoding	Pathogenic/Likely_pathogenic
11	108268486	T	A	T108268486A	ATM	NM_000051.4(ATM):c.2715T>A:p.Cys905Ter	coding	Pathogenic
11	108268610	G	A	G108268610A	ATM	NM_000051.4(ATM):c.2838+1G>A	coding	Pathogenic/Likely_pathogenic
11	108270182	C	T	C108270182T	ATM	NM_000051.4(ATM):c.2839-882C>T	noncoding	Benign
11	108270407	G	A	G108270407A	ATM	NM_000051.4(ATM):c.2839-657G>A	noncoding	Benign
11	108270974	G	T	G108270974T	ATM	NM_000051.4(ATM):c.2839-90G>T	noncoding	Benign
11	108271062	A	T	A108271062T	ATM	NM_000051.4(ATM):c.2839-2A>T	noncoding	Pathogenic
11	108271094	G	T	G108271094T	ATM	NM_000051.4(ATM):c.2869G>T:p.Glu957Ter	coding	Pathogenic
11	108271148	T	G	T108271148G	ATM	NM_000051.4(ATM):c.2921+2T>G	noncoding	Pathogenic
11	108271291	A	T	A108271291T	ATM	NM_000051.4(ATM):c.2962A>T:p.Lys988Ter	coding	Pathogenic
11	108271336	C	T	C108271336T	ATM	NM_000051.4(ATM):c.3007C>T:p.Gln1003Ter	coding	Pathogenic
11	108271414	C	G	C108271414G	ATM	NM_000051.4(ATM):c.3077+8C>G	noncoding	Benign/Likely_benign
11	108271467	G	A	G108271467A	ATM	NM_000051.4(ATM):c.3077+61G>A	noncoding	Benign
11	108272530	A	C	A108272530C	ATM	NM_000051.4(ATM):c.3078-2A>C	noncoding	Pathogenic
11	108272556	T	G	T108272556G	ATM	NM_000051.4(ATM):c.3102T>G:p.Tyr1034Ter	coding	Pathogenic/Likely_pathogenic
11	108272718	G	A	G108272718A	ATM	NM_000051.4(ATM):c.3154-4G>A	noncoding	Benign/Likely_benign
11	108272737	A	T	A108272737T	ATM	NM_000051.4(ATM):c.3169A>T:p.Lys1057Ter	coding	Pathogenic
11	108272742	G	A	G108272742A	ATM	NM_000051.4(ATM):c.3174G>A:p.Trp1058Ter	coding	Pathogenic
11	108272787	A	G	A108272787G	ATM	NM_000051.4(ATM):c.3219A>G:p.Val1073=	coding	Benign/Likely_benign
11	108272853	G	T	G108272853T	ATM	NM_000051.4(ATM):c.3284+1G>T	coding	Pathogenic
11	108272868	T	G	T108272868G	ATM	NM_000051.4(ATM):c.3284+16T>G	noncoding	Benign/Likely_benign
11	108279552	C	T	C108279552T	ATM	NM_000051.4(ATM):c.3346C>T:p.Gln1116Ter	coding	Pathogenic
11	108279560	A	G	A108279560G	ATM	NM_000051.4(ATM):c.3354A>G:p.Thr1118=	coding	Benign/Likely_benign
11	108279575	A	G	A108279575G	ATM	NM_000051.4(ATM):c.3369A>G:p.Ala1123=	coding	Benign/Likely_benign
11	108279622	A	C	A108279622C	ATM	NM_000051.4(ATM):c.3402+14A>C	noncoding	Benign/Likely_benign
11	108279937	A	T	A108279937T	ATM	NM_000051.4(ATM):c.3402+329A>T	noncoding	Benign
11	108280961	T	A	T108280961A	ATM	NM_000051.4(ATM):c.3403-34T>A	noncoding	Benign/Likely_benign
11	108280991	T	C	T108280991C	ATM	NM_000051.4(ATM):c.3403-4T>C	noncoding	Benign
11	108281040	A	T	A108281040T	ATM	NM_000051.4(ATM):c.3448A>T:p.Arg1150Ter	coding	Pathogenic
11	108281053	T	A	T108281053A	ATM	NM_000051.4(ATM):c.3461T>A:p.Leu1154Ter	coding	Pathogenic
11	108281124	A	T	A108281124T	ATM	NM_000051.4(ATM):c.3532A>T:p.Lys1178Ter	coding	Pathogenic/Likely_pathogenic
11	108281142	G	T	G108281142T	ATM	NM_000051.4(ATM):c.3550G>T:p.Gly1184Ter	coding	Pathogenic
11	108282750	T	A	T108282750A	ATM	NM_000051.4(ATM):c.3617T>A:p.Leu1206Ter	coding	Pathogenic
11	108282795	G	A	G108282795A	ATM	NM_000051.4(ATM):c.3662G>A:p.Trp1221Ter	coding	Pathogenic
11	108282815	G	T	G108282815T	ATM	NM_000051.4(ATM):c.3682G>T:p.Glu1228Ter	coding	Pathogenic
11	108282849	T	G	T108282849G	ATM	NM_000051.4(ATM):c.3716T>G:p.Leu1239Ter	coding	Pathogenic
11	108282878	A	T	A108282878T	ATM	NM_000051.4(ATM):c.3745A>T:p.Arg1249Ter	coding	Pathogenic
11	108282880	G	A	G108282880A	ATM	NM_000051.4(ATM):c.3746+1G>A	coding	Pathogenic
11	108283923	G	A	G108283923A	ATM	NM_000051.4(ATM):c.3747-304G>A	noncoding	Benign
11	108284193	A	G	A108284193G	ATM	NM_000051.4(ATM):c.3747-34A>G	noncoding	Benign
11	108284300	C	T	C108284300T	ATM	NM_000051.4(ATM):c.3820C>T:p.Gln1274Ter	coding	Pathogenic
11	108284306	C	T	C108284306T	ATM	NM_000051.4(ATM):c.3826C>T:p.Gln1276Ter	coding	Pathogenic
11	108284338	C	A	C108284338A	ATM	NM_000051.4(ATM):c.3858C>A:p.Cys1286Ter	coding	Pathogenic
11	108284405	G	A	G108284405A	ATM	NM_000051.4(ATM):c.3925G>A:p.Ala1309Thr	coding	Benign
11	108284443	G	T	G108284443T	ATM	NM_000051.4(ATM):c.3963G>T:p.Met1321Ile	coding	Benign
11	108284491	A	G	A108284491G	ATM	NM_000051.4(ATM):c.3993+18A>G	noncoding	Benign/Likely_benign
11	108284521	A	G	A108284521G	ATM	NM_000051.4(ATM):c.3993+48A>G	noncoding	Benign
11	108284670	G	A	G108284670A	ATM	NM_000051.4(ATM):c.3993+197G>A	noncoding	Benign
11	108287593	C	T	C108287593T	ATM	NM_000051.4(ATM):c.3994-7C>T	noncoding	Benign/Likely_benign
11	108287626	A	G	A108287626G	ATM	NM_000051.4(ATM):c.4020A>G:p.Leu1340=	coding	Benign/Likely_benign
11	108287663	G	T	G108287663T	ATM	NM_000051.4(ATM):c.4057G>T:p.Glu1353Ter	coding	Pathogenic
11	108288975	A	G	A108288975G	ATM	NM_000051.4(ATM):c.4110-2A>G	noncoding	Pathogenic
11	108289026	A	T	A108289026T	ATM	NM_000051.4(ATM):c.4159A>T:p.Lys1387Ter	coding	Pathogenic
11	108289046	C	A	C108289046A	ATM	NM_000051.4(ATM):c.4179C>A:p.Ile1393=	coding	Benign/Likely_benign
11	108289607	C	G	C108289607G	ATM	NM_000051.4(ATM):c.4242C>G:p.Ser1414=	coding	Benign
11	108289623	C	T	C108289623T	ATM	NM_000051.4(ATM):c.4258C>T:p.Leu1420Phe	coding	Benign/Likely_benign
11	108289728	A	C	A108289728C	ATM	NM_000051.4(ATM):c.4363A>C:p.Ser1455Arg	coding	Benign
11	108289820	C	T	C108289820T	ATM	NM_000051.4(ATM):c.4436+19C>T	noncoding	Benign/Likely_benign
11	108292680	C	T	C108292680T	ATM	NM_000051.4(ATM):c.4498C>T:p.Gln1500Ter	coding	Pathogenic
11	108292785	C	T	C108292785T	ATM	NM_000051.4(ATM):c.4603C>T:p.Gln1535Ter	coding	Pathogenic
11	108293006	A	G	A108293006G	ATM	NM_000051.4(ATM):c.4611+213A>G	noncoding	Benign
11	108293375	G	A	G108293375A	ATM	NM_000051.4(ATM):c.4674G>A:p.Thr1558=	coding	Benign/Likely_benign
11	108293433	C	T	C108293433T	ATM	NM_000051.4(ATM):c.4732C>T:p.Gln1578Ter	coding	Pathogenic/Likely_pathogenic
11	108293462	C	T	C108293462T	ATM	NM_000051.4(ATM):c.4761C>T:p.Pro1587=	coding	Benign/Likely_benign
11	108293518	C	T	C108293518T	ATM	NM_000051.4(ATM):c.4776+41C>T	noncoding	Benign
11	108294679	G	A	G108294679A	ATM	NM_000051.4(ATM):c.4777-248G>A	noncoding	Benign
11	108294680	C	G	C108294680G	ATM	NM_000051.4(ATM):c.4777-247C>G	noncoding	Benign
11	108295047	A	T	A108295047T	ATM	NM_000051.4(ATM):c.4897A>T:p.Arg1633Ter	coding	Pathogenic
11	108297399	C	T	C108297399T	ATM	NM_000051.4(ATM):c.5005+17C>T	noncoding	Benign/Likely_benign
11	108299646	T	G	T108299646G	ATM	NM_000051.4(ATM):c.5006-68T>G	noncoding	Benign
11	108299796	T	G	T108299796G	ATM	NM_000051.4(ATM):c.5088T>G:p.Tyr1696Ter	coding	Pathogenic
11	108301682	A	T	A108301682T	ATM	NM_000051.4(ATM):c.5212A>T:p.Lys1738Ter	coding	Pathogenic
11	108301763	C	T	C108301763T	ATM	NM_000051.4(ATM):c.5293C>T:p.Gln1765Ter	coding	Pathogenic
11	108301791	T	C	T108301791C	ATM	NM_000051.4(ATM):c.5319+2T>C	noncoding	Pathogenic/Likely_pathogenic
11	108304710	C	G	C108304710G	ATM	NM_000051.4(ATM):c.5532C>G:p.Tyr1844Ter	coding	Pathogenic
11	108304748	C	A	C108304748A	ATM	NM_000051.4(ATM):c.5570C>A:p.Ser1857Ter	coding	Pathogenic
11	108304752	G	A	G108304752A	ATM	NM_000051.4(ATM):c.5574G>A:p.Trp1858Ter	coding	Pathogenic
11	108304761	G	A	G108304761A	ATM	NM_000051.4(ATM):c.5583G>A:p.Leu1861=	coding	Benign/Likely_benign
11	108307938	C	T	C108307938T	ATM	NM_000051.4(ATM):c.5716C>T:p.Gln1906Ter	coding	Pathogenic
11	108307983	A	T	A108307983T	ATM	NM_000051.4(ATM):c.5761A>T:p.Arg1921Ter	coding	Pathogenic
11	108307985	G	T	G108307985T	ATM	NM_000051.4(ATM):c.5762+1G>T	coding	Pathogenic/Likely_pathogenic
11	108308010	C	T	C108308010T	ATM	NM_000051.4(ATM):c.5762+26C>T	noncoding	Benign/Likely_benign
11	108309110	A	G	A108309110G	ATM	NM_000051.4(ATM):c.5763-1050A>G	noncoding	Pathogenic/Likely_pathogenic
11	108310158	A	C	A108310158C	ATM	NM_000051.4(ATM):c.5763-2A>C	noncoding	Pathogenic
11	108310170	G	T	G108310170T	ATM	NM_000051.4(ATM):c.5773G>T:p.Gly1925Ter	coding	Pathogenic
11	108310196	G	A	G108310196A	ATM	NM_000051.4(ATM):c.5799G>A:p.Trp1933Ter	coding	Pathogenic
11	108310268	T	G	T108310268G	ATM	NM_000051.4(ATM):c.5871T>G:p.Tyr1957Ter	coding	Pathogenic
11	108310272	G	T	G108310272T	ATM	NM_000051.4(ATM):c.5875G>T:p.Glu1959Ter	coding	Pathogenic
11	108310387	A	G	A108310387G	ATM	NM_000051.4(ATM):c.5918+72A>G	noncoding	Benign/Likely_benign
11	108312453	T	G	T108312453G	ATM	NM_000051.4(ATM):c.5961T>G:p.Ser1987_Ser1988=	coding	Benign/Likely_benign
11	108312506	T	C	T108312506C	ATM	NM_000051.4(ATM):c.6006+8T>C	noncoding	Benign/Likely_benign
11	108315896	T	G	T108315896G	ATM	NM_000051.4(ATM):c.6080T>G:p.Leu2027Ter	coding	Pathogenic
11	108316040	G	A	G108316040A	ATM	NM_000051.4(ATM):c.6125G>A:p.Trp2042Ter	coding	Pathogenic
11	108316041	G	A	G108316041A	ATM	NM_000051.4(ATM):c.6126G>A:p.Trp2042Ter	coding	Pathogenic
11	108316062	T	C	T108316062C	ATM	NM_000051.4(ATM):c.6147T>C:p.Tyr2049_Asp2050=	coding	Benign/Likely_benign
11	108316088	C	G	C108316088G	ATM	NM_000051.4(ATM):c.6173C>G:p.Ser2058Ter	coding	Pathogenic
11	108316102	G	T	G108316102T	ATM	NM_000051.4(ATM):c.6187G>T:p.Gly2063Ter	coding	Pathogenic
11	108316115	T	G	T108316115G	ATM	NM_000051.4(ATM):c.6198+2T>G	noncoding	Pathogenic
11	108316423	G	A	G108316423A	ATM	NM_000051.4(ATM):c.6198+310G>A	noncoding	Benign
11	108317312	C	G	C108317312G	ATM	NM_000051.4(ATM):c.6199-61C>G	noncoding	Benign/Likely_benign
11	108317416	T	A	T108317416A	ATM	NM_000051.4(ATM):c.6242T>A:p.Leu2081Ter	coding	Pathogenic
11	108317447	G	A	G108317447A	ATM	NM_000051.4(ATM):c.6273G>A:p.Trp2091Ter	coding	Pathogenic
11	108317735	T	A	T108317735A	ATM	NM_000051.4(ATM):c.6347+214T>A	noncoding	Benign
11	108319963	A	T	A108319963T	ATM	NM_000051.4(ATM):c.6357A>T:p.Val2119_Glu2120=	coding	Benign/Likely_benign
11	108319978	C	A	C108319978A	ATM	NM_000051.4(ATM):c.6372C>A:p.Tyr2124Ter	coding	Pathogenic
11	108319986	C	G	C108319986G	ATM	NM_000051.4(ATM):c.6380C>G:p.Ser2127Ter	coding	Pathogenic
11	108321308	G	T	G108321308T	ATM	NM_000051.4(ATM):c.6460G>T:p.Glu2154Ter	coding	Pathogenic
11	108321338	G	T	G108321338T	ATM	NM_000051.4(ATM):c.6490G>T:p.Glu2164Ter	coding	Pathogenic/Likely_pathogenic
11	108321377	C	T	C108321377T	ATM	NM_000051.4(ATM):c.6529C>T:p.Gln2177Ter	coding	Pathogenic
11	108321395	G	T	G108321395T	ATM	NM_000051.4(ATM):c.6547G>T:p.Glu2183Ter	coding	Pathogenic
11	108325052	A	C	A108325052C	ATM	NM_000051.4(ATM):c.6573-258A>C	noncoding	Benign
11	108325294	A	G	A108325294G	ATM	NM_000051.4(ATM):c.6573-16A>G	noncoding	Benign/Likely_benign
11	108325312	C	G	C108325312G	ATM	NM_000051.4(ATM):c.6575C>G:p.Ser2192Ter	coding	Pathogenic
11	108325326	C	T	C108325326T	ATM	NM_000051.4(ATM):c.6589C>T:p.Gln2197Ter	coding	Pathogenic
11	108325353	C	T	C108325353T	ATM	NM_000051.4(ATM):c.6616C>T:p.Gln2206Ter	coding	Pathogenic
11	108325398	G	T	G108325398T	ATM	NM_000051.4(ATM):c.6661G>T:p.Glu2221Ter	coding	Pathogenic
11	108325506	G	T	G108325506T	ATM	NM_000051.4(ATM):c.6769G>T:p.Glu2257Ter	coding	Pathogenic
11	108325533	A	T	A108325533T	ATM	NM_000051.4(ATM):c.6796A>T:p.Lys2266Ter	coding	Pathogenic
11	108325542	C	T	C108325542T	ATM	NM_000051.4(ATM):c.6805C>T:p.Gln2269Ter	coding	Pathogenic
11	108326079	C	T	C108326079T	ATM	NM_000051.4(ATM):c.6829C>T:p.Gln2277Ter	coding	Pathogenic
11	108326138	A	T	A108326138T	ATM	NM_000051.4(ATM):c.6888A>T:p.Ala2296_Gln2297=	coding	Benign/Likely_benign
11	108326187	A	T	A108326187T	ATM	NM_000051.4(ATM):c.6937A>T:p.Lys2313Ter	coding	Pathogenic
11	108327626	T	C	T108327626C	ATM	NM_000051.4(ATM):c.6976-19T>C	noncoding	Benign/Likely_benign
11	108327643	A	C	A108327643C	ATM	NM_000051.4(ATM):c.6976-2A>C	noncoding	Pathogenic/Likely_pathogenic
11	108327644	G	A	G108327644A	ATM	NM_000051.4(ATM):c.6976-1G>A	noncoding	Pathogenic
11	108327644	G	T	G108327644T	ATM	NM_000051.4(ATM):c.6976-1G>T	noncoding	Pathogenic/Likely_pathogenic
11	108327671	C	G	C108327671G	ATM	NM_000051.4(ATM):c.7002C>G:p.Tyr2334Ter	coding	Pathogenic
11	108327680	T	A	T108327680A	ATM	NM_000051.4(ATM):c.7011T>A:p.Cys2337Ter	coding	Pathogenic
11	108327731	G	A	G108327731A	ATM	NM_000051.4(ATM):c.7062G>A:p.Ala2354_Val2355=	coding	Benign/Likely_benign
11	108327741	C	T	C108327741T	ATM	NM_000051.4(ATM):c.7072C>T:p.Gln2358Ter	coding	Pathogenic
11	108329044	T	G	T108329044G	ATM	NM_000051.4(ATM):c.7113T>G:p.Tyr2371Ter	coding	Pathogenic
11	108329047	T	C	T108329047C	ATM	NM_000051.4(ATM):c.7116T>C:p.Asp2372_Gly2373=	coding	Benign/Likely_benign
11	108329089	A	G	A108329089G	ATM	NM_000051.4(ATM):c.7158A>G:p.Ala2386_Phe2387=	coding	Benign
11	108329126	C	T	C108329126T	ATM	NM_000051.4(ATM):c.7195C>T:p.Gln2399Ter	coding	Pathogenic
11	108329143	C	A	C108329143A	ATM	NM_000051.4(ATM):c.7212C>A:p.Tyr2404Ter	coding	Pathogenic
11	108329198	G	T	G108329198T	ATM	NM_000051.4(ATM):c.7267G>T:p.Glu2423Ter	coding	Pathogenic
11	108329239	G	A	G108329239A	ATM	NM_000051.4(ATM):c.7307+1G>A	coding	Pathogenic/Likely_pathogenic
11	108330242	G	T	G108330242T	ATM	NM_000051.4(ATM):c.7336G>T:p.Glu2446Ter	coding	Pathogenic
11	108330255	T	A	T108330255A	ATM	NM_000051.4(ATM):c.7349T>A:p.Leu2450Ter	coding	Pathogenic
11	108330316	T	A	T108330316A	ATM	NM_000051.4(ATM):c.7410T>A:p.Tyr2470Ter	coding	Pathogenic
11	108330330	T	G	T108330330G	ATM	NM_000051.4(ATM):c.7424T>G:p.Leu2475Ter	coding	Pathogenic
11	108330354	G	A	G108330354A	ATM	NM_000051.4(ATM):c.7448G>A:p.Trp2483Ter	coding	Pathogenic
11	108330401	G	T	G108330401T	ATM	NM_000051.4(ATM):c.7495G>T:p.Glu2499Ter	coding	Pathogenic
11	108330422	G	A	G108330422A	ATM	NM_000051.4(ATM):c.7515+1G>A	coding	Pathogenic/Likely_pathogenic
11	108331449	C	T	C108331449T	ATM	NM_000051.4(ATM):c.7521C>T:p.Asp2507_Gly2508=	coding	Benign/Likely_benign
11	108331534	G	T	G108331534T	ATM	NM_000051.4(ATM):c.7606G>T:p.Gly2536Ter	coding	Pathogenic
11	108331548	C	A	C108331548A	ATM	NM_000051.4(ATM):c.7620C>A:p.Val2540_Leu2541=	coding	Benign/Likely_benign
11	108331558	G	A	G108331558A	ATM	NM_000051.4(ATM):c.7629+1G>A	coding	Pathogenic/Likely_pathogenic
11	108331895	C	A	C108331895A	ATM	NM_000051.4(ATM):c.7646C>A:p.Ser2549Ter	coding	Pathogenic
11	108332002	A	T	A108332002T	ATM	NM_000051.4(ATM):c.7753A>T:p.Lys2585Ter	coding	Pathogenic
11	108332888	A	T	A108332888T	ATM	NM_000051.4(ATM):c.7915A>T:p.Lys2639Ter	coding	Pathogenic
11	108333042	G	A	G108333042A	ATM	NM_000051.4(ATM):c.7927+142G>A	noncoding	Benign
11	108333791	C	A	C108333791A	ATM	NM_000051.4(ATM):c.7928-95C>A	noncoding	Benign
11	108333813	G	A	G108333813A	ATM	NM_000051.4(ATM):c.7928-73G>A	noncoding	Benign
11	108333921	A	T	A108333921T	ATM	NM_000051.4(ATM):c.7963A>T:p.Lys2655Ter	coding	Pathogenic
11	108333934	T	G	T108333934G	ATM	NM_000051.4(ATM):c.7976T>G:p.Leu2659Ter	coding	Pathogenic
11	108333936	G	T	G108333936T	ATM	NM_000051.4(ATM):c.7978G>T:p.Glu2660Ter	coding	Pathogenic
11	108333955	C	A	C108333955A	ATM	NM_000051.4(ATM):c.7997C>A:p.Thr2666Asn	coding	Pathogenic/Likely_pathogenic
11	108333970	T	G	T108333970G	ATM	NM_000051.4(ATM):c.8010+2T>G	noncoding	Pathogenic
11	108334656	G	A	G108334656A	ATM	NM_000051.4(ATM):c.8011-313G>A	noncoding	Benign
11	108334967	A	G	A108334967G	ATM	NM_000051.4(ATM):c.8011-2A>G	noncoding	Pathogenic
11	108335038	G	T	G108335038T	ATM	NM_000051.4(ATM):c.8080G>T:p.Gly2694Ter	coding	Pathogenic
11	108335111	T	C	T108335111C	ATM	NM_000051.4(ATM):c.8151+2T>C	noncoding	Pathogenic
11	108335126	C	G	C108335126G	ATM	NM_000051.4(ATM):c.8151+17C>G	noncoding	Benign/Likely_benign
11	108335844	G	A	G108335844A	ATM	NM_000051.4(ATM):c.8152-1G>A	noncoding	Pathogenic/Likely_pathogenic
11	108335863	C	T	C108335863T	ATM	NM_000051.4(ATM):c.8170C>T:p.Gln2724Ter	coding	Pathogenic
11	108335922	G	A	G108335922A	ATM	NM_000051.4(ATM):c.8229G>A:p.Thr2743_Glu2744=	coding	Benign/Likely_benign
11	108335932	A	T	A108335932T	ATM	NM_000051.4(ATM):c.8239A>T:p.Lys2747Ter	coding	Pathogenic
11	108343220	A	T	A108343220T	ATM	NM_000051.4(ATM):c.8269-2A>T	noncoding	Pathogenic
11	108343221	G	C	G108343221C	ATM	NM_000051.4(ATM):c.8269-1G>C	noncoding	Pathogenic/Likely_pathogenic
11	108343303	G	T	G108343303T	ATM	NM_000051.4(ATM):c.8350G>T:p.Glu2784Ter	coding	Pathogenic
11	108343351	C	T	C108343351T	ATM	NM_000051.4(ATM):c.8398C>T:p.Gln2800Ter	coding	Pathogenic
11	108343376	G	A	G108343376A	ATM	NM_000051.4(ATM):c.8418+5G>A	noncoding	Pathogenic/Likely_pathogenic
11	108343449	A	G	A108343449G	ATM	NM_000051.4(ATM):c.8418+78A>G	noncoding	Benign/Likely_benign
11	108345775	T	A	T108345775A	ATM	NM_000051.4(ATM):c.8451T>A:p.Tyr2817Ter	coding	Pathogenic
11	108345775	T	G	T108345775G	ATM	NM_000051.4(ATM):c.8451T>G:p.Tyr2817Ter	coding	Pathogenic
11	108345804	T	G	T108345804G	ATM	NM_000051.4(ATM):c.8480T>G:p.Phe2827Cys	coding	Pathogenic/Likely_pathogenic
11	108345823	C	G	C108345823G	ATM	NM_000051.4(ATM):c.8499C>G:p.Tyr2833Ter	coding	Pathogenic
11	108345880	T	A	T108345880A	ATM	NM_000051.4(ATM):c.8556T>A:p.Tyr2852Ter	coding	Pathogenic
11	108345880	T	G	T108345880G	ATM	NM_000051.4(ATM):c.8556T>G:p.Tyr2852Ter	coding	Pathogenic
11	108345883	G	A	G108345883A	ATM	NM_000051.4(ATM):c.8559G>A:p.Thr2853_Arg2854=	coding	Benign/Likely_benign
11	108345889	T	G	T108345889G	ATM	NM_000051.4(ATM):c.8565T>G:p.Ser2855Arg	coding	Pathogenic/Likely_pathogenic
11	108345898	T	C	T108345898C	ATM	NM_000051.4(ATM):c.8574T>C:p.Thr2858_Ser2859=	coding	Benign/Likely_benign
11	108345918	T	C	T108345918C	ATM	NM_000051.4(ATM):c.8584+10T>C	noncoding	Benign/Likely_benign
11	108347286	C	G	C108347286G	ATM	NM_000051.4(ATM):c.8592C>G:p.Tyr2864Ter	coding	Pathogenic
11	108347383	T	C	T108347383C	ATM	NM_000051.4(ATM):c.8671+18T>C	noncoding	Benign/Likely_benign
11	108347469	T	C	T108347469C	ATM	NM_000051.4(ATM):c.8671+104T>C	noncoding	Benign
11	108353777	G	T	G108353777T	ATM	NM_000051.4(ATM):c.8683G>T:p.Glu2895Ter	coding	Pathogenic
11	108353780	C	T	C108353780T	ATM	NM_000051.4(ATM):c.8686C>T:p.Gln2896Ter	coding	Pathogenic
11	108353831	G	T	G108353831T	ATM	NM_000051.4(ATM):c.8737G>T:p.Asp2913Tyr	coding	Pathogenic/Likely_pathogenic
11	108353879	A	T	A108353879T	ATM	NM_000051.4(ATM):c.8785A>T:p.Arg2929Ter	coding	Pathogenic
11	108354150	G	A	G108354150A	ATM	NM_000051.4(ATM):c.8786+270G>A	noncoding	Benign
11	108354756	C	T	C108354756T	ATM	NM_000051.4(ATM):c.8787-55C>T	noncoding	Benign
11	108354809	A	G	A108354809G	ATM	NM_000051.4(ATM):c.8787-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	108354810	G	A	G108354810A	ATM	NM_000051.4(ATM):c.8787-1G>A	noncoding	Pathogenic
11	108354810	G	C	G108354810C	ATM	NM_000051.4(ATM):c.8787-1G>C	noncoding	Pathogenic
11	108354818	G	T	G108354818T	ATM	NM_000051.4(ATM):c.8794G>T:p.Glu2932Ter	coding	Pathogenic
11	108354821	A	T	A108354821T	ATM	NM_000051.4(ATM):c.8797A>T:p.Lys2933Ter	coding	Pathogenic
11	108354934	A	G	A108354934G	ATM	NM_000051.4(ATM):c.8850+60A>G	noncoding	Benign
11	108365145	C	T	C108365145T	ATM	NM_000051.4(ATM):c.8914C>T:p.Gln2972Ter	coding	Pathogenic
11	108365154	G	T	G108365154T	ATM	NM_000051.4(ATM):c.8923G>T:p.Glu2975Ter	coding	Pathogenic
11	108365204	C	A	C108365204A	ATM	NM_000051.4(ATM):c.8973C>A:p.Cys2991Ter	coding	Pathogenic
11	108365323	A	G	A108365323G	ATM	NM_000051.4(ATM):c.8988-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	108365360	G	A	G108365360A	ATM	NM_000051.4(ATM):c.9023G>A:p.Arg3008His	coding	Pathogenic/Likely_pathogenic
11	108365537	C	G	C108365537G	ATM	NM_000051.4(ATM):c.*29C>G	noncoding	Benign/Likely_benign
11	108365552	A	G	A108365552G	ATM	NM_000051.4(ATM):c.*44A>G	noncoding	Benign/Likely_benign
11	108509254	A	G	A108509254G	EXPH5	NM_015065.3(EXPH5):c.*283T>C	noncoding	Benign
11	108509585	T	C	T108509585C	EXPH5	NM_015065.3(EXPH5):c.5922A>G:p.Thr1974=	coding	Benign
11	108510294	G	A	G108510294A	EXPH5	NM_015065.3(EXPH5):c.5213C>T:p.Thr1738Ile	coding	Benign
11	108510520	C	T	C108510520T	EXPH5	NM_015065.3(EXPH5):c.4987G>A:p.Gly1663Arg	coding	Benign
11	108510541	C	T	C108510541T	EXPH5	NM_015065.3(EXPH5):c.4966G>A:p.Glu1656Lys	coding	Benign
11	108510590	G	T	G108510590T	EXPH5	NM_015065.3(EXPH5):c.4917C>A:p.Cys1639Ter	coding	Pathogenic
11	108510917	T	C	T108510917C	EXPH5	NM_015065.3(EXPH5):c.4590A>G:p.Leu1530=	coding	Benign
11	108511576	A	G	A108511576G	EXPH5	NM_015065.3(EXPH5):c.3931T>C:p.Cys1311Arg	coding	Benign
11	108511590	G	C	G108511590C	EXPH5	NM_015065.3(EXPH5):c.3917C>G:p.Ser1306Ter	coding	Pathogenic
11	108511857	A	T	A108511857T	EXPH5	NM_015065.3(EXPH5):c.3650T>A:p.Leu1217Ter	coding	Pathogenic
11	108512540	T	C	T108512540C	EXPH5	NM_015065.3(EXPH5):c.2967A>G:p.Thr989=	coding	Benign
11	108512811	A	G	A108512811G	EXPH5	NM_015065.3(EXPH5):c.2696T>C:p.Val899Ala	coding	Benign
11	108512833	T	A	T108512833A	EXPH5	NM_015065.3(EXPH5):c.2674A>T:p.Asn892Tyr	coding	Benign
11	108512949	A	G	A108512949G	EXPH5	NM_015065.3(EXPH5):c.2558T>C:p.Leu853Pro	coding	Benign
11	108513178	C	T	C108513178T	EXPH5	NM_015065.3(EXPH5):c.2329G>A:p.Asp777Asn	coding	Benign
11	108513258	G	C	G108513258C	EXPH5	NM_015065.3(EXPH5):c.2249C>G:p.Ser750Ter	coding	Pathogenic
11	108513258	G	T	G108513258T	EXPH5	NM_015065.3(EXPH5):c.2249C>A:p.Ser750Ter	coding	Pathogenic
11	108513294	G	C	G108513294C	EXPH5	NM_015065.3(EXPH5):c.2213C>G:p.Ser738Cys	coding	Benign
11	108513480	C	T	C108513480T	EXPH5	NM_015065.3(EXPH5):c.2027G>A:p.Ser676Asn	coding	Benign
11	108513934	C	A	C108513934A	EXPH5	NM_015065.3(EXPH5):c.1573G>T:p.Val525Phe	coding	Benign
11	108513939	T	C	T108513939C	EXPH5	NM_015065.3(EXPH5):c.1568A>G:p.His523Arg	coding	Benign
11	108514524	C	T	C108514524T	EXPH5	NM_015065.3(EXPH5):c.983G>A:p.Arg328Gln	coding	Benign
11	108518558	C	T	C108518558T	EXPH5	NM_015065.3(EXPH5):c.493-185G>A	noncoding	Benign
11	108538715	A	G	A108538715G	EXPH5	NM_015065.3(EXPH5):c.443+309T>C	noncoding	Benign
11	108539057	T	A	T108539057A	EXPH5	NM_015065.3(EXPH5):c.410A>T:p.Glu137Val	coding	Benign
11	108541499	T	A	T108541499A	EXPH5	NM_015065.3(EXPH5):c.280+153A>T	noncoding	Benign
11	108541642	T	G	T108541642G	EXPH5	NM_015065.3(EXPH5):c.280+10A>C	noncoding	Benign/Likely_benign
11	108593235	A	C	A108593235C	EXPH5	NM_015065.3(EXPH5):c.119+183T>G	noncoding	Benign
11	108593259	C	A	C108593259A	EXPH5	NM_015065.3(EXPH5):c.119+159G>T	noncoding	Benign
11	108593482	T	C	T108593482C	EXPH5	NM_015065.3(EXPH5):c.55A>G:p.Arg19Gly	coding	Benign
11	108593824	T	C	T108593824C	EXPH5	Single_allele	noncoding	Benign
11	110233064	G	A	G110233064A	RDX	NM_002906.4(RDX):c.1587+173C>T	noncoding	Benign
11	110233199	A	C	A110233199C	RDX	NM_002906.4(RDX):c.1587+38T>G	noncoding	Benign
11	110233414	G	T	G110233414T	RDX	NM_002906.4(RDX):c.1410C>A:p.Pro470=	coding	Benign/Likely_benign
11	110233497	G	A	G110233497A	RDX	NM_002906.4(RDX):c.1345-18C>T	noncoding	Benign
11	110236021	C	T	C110236021T	RDX	NM_002906.4(RDX):c.1344+78G>A	noncoding	Benign
11	110247639	A	C	A110247639C	RDX	NM_002906.4(RDX):c.1090+64T>G	noncoding	Benign
11	110255472	A	G	A110255472G	RDX	NM_002906.4(RDX):c.699-87T>C	noncoding	Benign
11	110257751	C	A	C110257751A	RDX	NM_002906.4(RDX):c.698+16G>T	noncoding	Benign
11	110264842	C	T	C110264842T	RDX	NM_002906.4(RDX):c.129G>A:p.Trp43Ter	coding	Pathogenic
11	110265109	G	T	G110265109T	RDX	NM_002906.4(RDX):c.97-235C>A	noncoding	Benign
11	110272329	A	G	A110272329G	RDX	NM_002906.4(RDX):c.96+207T>C	noncoding	Benign
11	111541559	C	T	C111541559T	LAYN	NM_178834.5(LAYN):c.85+631C>T	noncoding	Benign
11	111825716	T	C	T111825716C	ALG9	NM_024740.2(ALG9):c.1602+10449A>G	noncoding	Benign
11	111837480	A	G	A111837480G	ALG9	NM_024740.2(ALG9):c.1460T>C:p.Leu487Pro	coding	Pathogenic
11	111837858	T	G	T111837858G	ALG9	NM_024740.2(ALG9):c.1325-243A>C	noncoding	Benign
11	111837945	T	A	T111837945A	ALG9	NM_024740.2(ALG9):c.1324+304A>T	noncoding	Benign
11	111844847	G	C	G111844847C	ALG9	NM_024740.2(ALG9):c.896-124C>G	noncoding	Benign
11	111853058	A	G	A111853058G	ALG9	NM_024740.2(ALG9):c.895+322T>C	noncoding	Benign
11	111853496	G	A	G111853496A	ALG9	NM_024740.2(ALG9):c.790-11C>T	noncoding	Benign/Likely_benign
11	111854023	C	G	C111854023G	ALG9	NM_024740.2(ALG9):c.702-287G>C	noncoding	Benign
11	111868485	T	C	T111868485C	ALG9	NM_024740.2(ALG9):c.405+117A>G	noncoding	Benign
11	111868816	C	T	C111868816T	ALG9	NM_024740.2(ALG9):c.271-80G>A	noncoding	Benign
11	111870388	A	C	A111870388C	ALG9	NM_024740.2(ALG9):c.132-18T>G	noncoding	Benign/Likely_benign
11	111870420	C	T	C111870420T	ALG9	NM_024740.2(ALG9):c.132-50G>A	noncoding	Benign
11	111870740	T	C	T111870740C	ALG9	NM_024740.2(ALG9):c.132-370A>G	noncoding	Benign
11	111870746	C	T	C111870746T	ALG9	NM_024740.2(ALG9):c.132-376G>A	noncoding	Benign
11	111871167	G	C	G111871167C	ALG9	NM_024740.2(ALG9):c.131+185C>G	coding	Benign
11	111909104	C	T	C111909104T	CRYAB	NM_001289808.2(CRYAB):c.325-137G>A	noncoding	Benign
11	111910465	T	C	T111910465C	CRYAB	NM_001289808.2(CRYAB):c.202-16A>G	noncoding	Benign
11	111911649	G	A	G111911649A	CRYAB	NM_001289808.2(CRYAB):c.76C>T:p.Gln26Ter	coding	Pathogenic
11	112024469	G	T	G112024469T	DLAT	Single_allele	noncoding	Benign
11	112024875	C	T	C112024875T	DLAT	NM_001931.4(DLAT):c.-598C>T	noncoding	Benign
11	112026077	T	C	T112026077C	DLAT	NM_001931.5(DLAT):c.280-121T>C	noncoding	Benign
11	112033119	G	A	G112033119A	DLAT	NM_001931.5(DLAT):c.661-285G>A	noncoding	Benign
11	112033271	T	C	T112033271C	DLAT	NM_001931.5(DLAT):c.661-133T>C	noncoding	Benign
11	112033348	T	C	T112033348C	DLAT	NM_001931.5(DLAT):c.661-56T>C	noncoding	Benign
11	112037460	G	A	G112037460A	DLAT	NM_001931.5(DLAT):c.975G>A:p.Pro325=	coding	Pathogenic
11	112037476	G	T	G112037476T	DLAT	NM_001931.5(DLAT):c.975+16G>T	noncoding	Benign
11	112039095	C	A	C112039095A	DLAT	NM_001931.5(DLAT):c.976-149C>A	noncoding	Benign
11	112044872	G	A	G112044872A	DLAT	NM_001931.5(DLAT):c.1198-266G>A	noncoding	Benign
11	112045545	G	A	G112045545A	DLAT	NM_001931.5(DLAT):c.1290+315G>A	noncoding	Benign
11	112051169	C	T	C112051169T	DLAT	NM_001931.5(DLAT):c.1399-65C>T	noncoding	Benign
11	112059852	C	T	C112059852T	DLAT	NM_001931.5(DLAT):c.1515-51C>T	noncoding	Benign
11	112062364	A	G	A112062364G	DLAT	NM_001931.5(DLAT):c.1815-42A>G	noncoding	Benign
11	112062631	C	A	C112062631A	DLAT	NM_001931.5(DLAT):c.*96C>A	noncoding	Benign
11	112086956	C	T	C112086956T	SDHD	NM_003002.4(SDHD):c.49C>T:p.Arg17Ter	coding	Pathogenic
11	112087095	G	T	G112087095T	SDHD	NM_003002.4(SDHD):c.52+136G>T	noncoding	Benign
11	112087884	G	A	G112087884A	SDHD	NM_003002.4(SDHD):c.80G>A:p.Arg27Lys	coding	Benign/Likely_benign
11	112087953	A	G	A112087953G	SDHD	NM_003002.4(SDHD):c.149A>G:p.His50Arg	coding	Benign/Likely_benign
11	112087974	G	A	G112087974A	SDHD	NM_003002.4(SDHD):c.169+1G>A	coding	Pathogenic
11	112087974	G	T	G112087974T	SDHD	NM_003002.4(SDHD):c.169+1G>T	coding	Pathogenic
11	112088597	T	A	T112088597A	SDHD	NM_003002.4(SDHD):c.170-270T>A	noncoding	Benign
11	112088936	T	G	T112088936G	SDHD	NM_003002.4(SDHD):c.239T>G:p.Leu80Arg	coding	Pathogenic
11	112089135	T	C	T112089135C	SDHD	NM_003002.4(SDHD):c.314+124T>C	noncoding	Benign
11	112094807	G	A	G112094807A	SDHD	NM_003002.4(SDHD):c.317G>A:p.Gly106Asp	coding	Pathogenic/Likely_pathogenic
11	112094807	G	T	G112094807T	SDHD	NM_003002.4(SDHD):c.317G>T:p.Gly106Val	coding	Pathogenic/Likely_pathogenic
11	112094830	T	G	T112094830G	SDHD	NM_003002.4(SDHD):c.340T>G:p.Tyr114Asp	coding	Pathogenic/Likely_pathogenic
11	112094854	A	T	A112094854T	SDHD	NM_003002.4(SDHD):c.364A>T:p.Lys122Ter	coding	Pathogenic
11	112094928	T	C	T112094928C	SDHD	NM_003002.4(SDHD):c.438T>C:p.Asp146=	coding	Benign/Likely_benign
11	112226521	G	T	G112226521T	PTS	NM_000317.3(PTS):c.78G>T:p.Leu26Phe	coding	Pathogenic/Likely_pathogenic
11	112226610	A	T	A112226610T	PTS	NM_000317.3(PTS):c.83+84A>T	noncoding	Benign
11	112229892	C	T	C112229892T	PTS	NM_000317.3(PTS):c.164-316C>T	noncoding	Benign
11	112229921	A	G	A112229921G	PTS	NM_000317.3(PTS):c.164-287A>G	noncoding	Benign
11	112229960	C	T	C112229960T	PTS	NM_000317.3(PTS):c.164-248C>T	noncoding	Benign
11	112230111	T	C	T112230111C	PTS	NM_000317.3(PTS):c.164-97T>C	noncoding	Benign
11	112230231	G	T	G112230231T	PTS	NM_000317.3(PTS):c.186+1G>T	coding	Pathogenic/Likely_pathogenic
11	112230545	A	G	A112230545G	PTS	NM_000317.3(PTS):c.187-81A>G	noncoding	Benign
11	112230677	A	G	A112230677G	PTS	NM_000317.3(PTS):c.238A>G:p.Met80Val	coding	Pathogenic/Likely_pathogenic
11	112230682	G	A	G112230682A	PTS	NM_000317.3(PTS):c.243G>A:p.Glu81=	coding	Pathogenic
11	112230776	T	A	T112230776A	PTS	NM_000317.3(PTS):c.243+94T>A	noncoding	Benign
11	112233235	T	C	T112233235C	PTS	NM_000317.3(PTS):c.314+2T>C	noncoding	Pathogenic
11	112233430	A	G	A112233430G	PTS	NM_000317.3(PTS):c.315-2A>G	noncoding	Pathogenic/Likely_pathogenic
11	112233448	G	A	G112233448A	PTS	NM_000317.3(PTS):c.331G>A:p.Ala111Thr	coding	Pathogenic
11	112233496	C	T	C112233496T	PTS	NM_000317.3(PTS):c.379C>T:p.Leu127Phe	coding	Pathogenic
11	112233501	T	A	T112233501A	PTS	NM_000317.3(PTS):c.384T>A:p.Tyr128Ter	coding	Pathogenic
11	112233516	C	A	C112233516A	PTS	NM_000317.3(PTS):c.399C>A:p.Tyr133Ter	coding	Pathogenic
11	112233524	A	T	A112233524T	PTS	NM_000317.3(PTS):c.407A>T:p.Asp136Val	coding	Pathogenic
11	113316054	G	A	G113316054A	TTC12	NM_017868.4(TTC12):c.-15-189G>A	noncoding	Benign
11	113316157	C	T	C113316157T	TTC12	NM_017868.4(TTC12):c.-15-86C>T	noncoding	Benign
11	113323114	A	C	A113323114C	TTC12	NM_017868.4(TTC12):c.59-174A>C	noncoding	Benign
11	113323241	C	G	C113323241G	TTC12	NM_017868.4(TTC12):c.59-47C>G	noncoding	Benign
11	113323254	T	C	T113323254C	TTC12	NM_017868.4(TTC12):c.59-34T>C	noncoding	Benign
11	113323446	A	C	A113323446C	TTC12	NM_017868.4(TTC12):c.217A>C:p.Met73Leu	coding	Benign
11	113324873	A	G	A113324873G	TTC12	NM_017868.4(TTC12):c.322+191A>G	noncoding	Benign
11	113329836	A	G	A113329836G	TTC12	NM_017868.4(TTC12):c.445-84A>G	noncoding	Benign
11	113329987	G	A	G113329987A	TTC12	NM_017868.4(TTC12):c.504+8G>A	noncoding	Benign
11	113330009	A	G	A113330009G	TTC12	NM_017868.4(TTC12):c.504+30A>G	noncoding	Benign
11	113338706	C	G	C113338706G	TTC12	NM_017868.4(TTC12):c.577-68C>G	noncoding	Benign
11	113340607	G	T	G113340607T	TTC12	NM_017868.4(TTC12):c.827-57G>T	noncoding	Benign
11	113340648	T	G	T113340648G	TTC12	NM_017868.4(TTC12):c.827-16T>G	noncoding	Benign
11	113341831	T	C	T113341831C	TTC12	NM_017868.4(TTC12):c.897-6T>C	noncoding	Benign
11	113344402	C	T	C113344402T	TTC12	NM_017868.4(TTC12):c.1116C>T:p.Ser372=	coding	Benign
11	113350189	T	C	T113350189C	TTC12	NM_017868.4(TTC12):c.1247+24T>C	noncoding	Benign
11	113352262	G	T	G113352262T	TTC12	NM_017868.4(TTC12):c.1446+55G>T	noncoding	Benign
11	113352412	T	A	T113352412A	TTC12	NM_017868.4(TTC12):c.1446+205T>A	noncoding	Benign
11	113359213	C	T	C113359213T	TTC12	NM_017868.4(TTC12):c.1447-150C>T	noncoding	Benign
11	113359878	C	T	C113359878T	TTC12	NM_017868.4(TTC12):c.1546-62C>T	noncoding	Benign
11	113360206	A	G	A113360206G	TTC12	NM_017868.4(TTC12):c.1614+198A>G	noncoding	Benign
11	113362337	G	A	G113362337A	TTC12	NM_017868.4(TTC12):c.1615-64G>A	noncoding	Benign
11	113363744	G	A	G113363744A	TTC12	NM_017868.4(TTC12):c.1717-84G>A	noncoding	Benign
11	113363749	A	G	A113363749G	TTC12	NM_017868.4(TTC12):c.1717-79A>G	noncoding	Benign
11	113363957	T	C	T113363957C	TTC12	NM_017868.4(TTC12):c.1816+30T>C	noncoding	Benign
11	113364053	A	G	A113364053G	TTC12	NM_017868.4(TTC12):c.1816+126A>G	noncoding	Benign
11	113364697	A	G	A113364697G	TTC12	NM_017868.4(TTC12):c.1817-138A>G	noncoding	Benign
11	113364743	G	A	G113364743A	TTC12	NM_017868.4(TTC12):c.1817-92G>A	noncoding	Benign
11	113365142	A	G	A113365142G	TTC12	NM_017868.4(TTC12):c.2042+82A>G	noncoding	Benign
11	113366469	G	T	G113366469T	TTC12	Single_allele	noncoding	Benign
11	113400106	G	A	G113400106A	ANKK1	NM_178510.2(ANKK1):c.2137G>A:p.Glu713Lys	coding	Benign
11	113410675	C	T	C113410675T	DRD2	NM_000795.4(DRD2):c.*52G>A	noncoding	Benign
11	113411054	A	C	A113411054C	DRD2	NM_000795.4(DRD2):c.1139-134T>G	noncoding	Benign
11	113411094	G	A	G113411094A	DRD2	NM_000795.4(DRD2):c.1139-174C>T	noncoding	Benign
11	113411128	C	T	C113411128T	DRD2	NM_000795.4(DRD2):c.1139-208G>A	noncoding	Benign
11	113411573	T	G	T113411573G	DRD2	NM_000795.4(DRD2):c.1139-653A>C	noncoding	Benign
11	113412491	A	C	A113412491C	DRD2	NM_000795.4(DRD2):c.1138+65T>G	noncoding	Benign
11	113412958	T	A	T113412958A	DRD2	NM_000795.4(DRD2):c.811-75A>T	noncoding	Benign
11	113412966	C	A	C113412966A	DRD2	NM_000795.4(DRD2):c.811-83G>T	noncoding	Benign/Likely_benign
11	113414355	T	C	T113414355C	DRD2	NM_000795.4(DRD2):c.810+20A>G	noncoding	Benign
11	113414577	G	A	G113414577A	DRD2	NM_000795.4(DRD2):c.724-116C>T	noncoding	Benign
11	113414587	G	A	G113414587A	DRD2	NM_000795.4(DRD2):c.724-126C>T	noncoding	Benign
11	113414814	C	A	C113414814A	DRD2	NM_000795.4(DRD2):c.724-353G>T	noncoding	Benign
11	113415194	C	T	C113415194T	DRD2	NM_000795.4(DRD2):c.723+227G>A	noncoding	Benign
11	113415286	C	T	C113415286T	DRD2	NM_000795.4(DRD2):c.723+135G>A	noncoding	Benign
11	113415768	C	T	C113415768T	DRD2	NM_000795.4(DRD2):c.533-157G>A	noncoding	Benign
11	113415779	A	G	A113415779G	DRD2	NM_000795.4(DRD2):c.533-168T>C	noncoding	Benign
11	113416156	T	C	T113416156C	DRD2	NM_000795.4(DRD2):c.533-545A>G	noncoding	Benign
11	113416789	G	T	G113416789T	DRD2	NM_000795.4(DRD2):c.532+74C>A	noncoding	Benign
11	113418315	G	A	G113418315A	DRD2	NM_000795.4(DRD2):c.286-179C>T	noncoding	Benign
11	113418344	C	T	C113418344T	DRD2	NM_000795.4(DRD2):c.286-208G>A	noncoding	Benign
11	113418460	T	C	T113418460C	DRD2	NM_000795.4(DRD2):c.286-324A>G	noncoding	Benign
11	113424176	G	A	G113424176A	DRD2	NM_000795.4(DRD2):c.285+191C>T	noncoding	Benign
11	113424254	T	C	T113424254C	DRD2	NM_000795.4(DRD2):c.285+113A>G	noncoding	Benign
11	113424276	T	A	T113424276A	DRD2	NM_000795.4(DRD2):c.285+91A>T	noncoding	Benign
11	113424977	G	A	G113424977A	DRD2	NM_000795.4(DRD2):c.-31-295C>T	noncoding	Benign
11	113451074	C	T	C113451074T	DRD2	NM_000795.4(DRD2):c.-32+24002G>A	noncoding	Benign
11	113475629	T	C	T113475629C	DRD2	NM_000795.3(DRD2):c.-585A>G	noncoding	Benign
11	113476233	A	G	A113476233G	DRD2	NC_000011.9:g.113346955A>G	noncoding	Benign
11	113688123	G	A	G113688123A	TMPRSS5	NM_030770.4(TMPRSS5):c.*137C>T	noncoding	Benign
11	113690184	A	C	A113690184C	TMPRSS5	NM_030770.4(TMPRSS5):c.1206+47T>G	noncoding	Benign
11	113690525	T	C	T113690525C	TMPRSS5	NM_030770.4(TMPRSS5):c.1064-152A>G	noncoding	Benign
11	113690534	G	A	G113690534A	TMPRSS5	NM_030770.4(TMPRSS5):c.1064-161C>T	noncoding	Benign
11	113690699	A	C	A113690699C	TMPRSS5	NM_030770.4(TMPRSS5):c.1063+142T>G	noncoding	Benign
11	113690928	C	A	C113690928A	TMPRSS5	NM_030770.4(TMPRSS5):c.976G>T:p.Ala326Ser	coding	Benign
11	113691058	C	T	C113691058T	TMPRSS5	NM_030770.4(TMPRSS5):c.965-119G>A	noncoding	Benign
11	113692837	C	A	C113692837A	TMPRSS5	NM_030770.4(TMPRSS5):c.964+234G>T	noncoding	Benign
11	113692838	C	G	C113692838G	TMPRSS5	NM_030770.4(TMPRSS5):c.964+233G>C	noncoding	Benign
11	113692852	T	A	T113692852A	TMPRSS5	NM_030770.4(TMPRSS5):c.964+219A>T	noncoding	Benign
11	113692966	A	G	A113692966G	TMPRSS5	NM_030770.4(TMPRSS5):c.964+105T>C	noncoding	Benign
11	113695483	C	T	C113695483T	TMPRSS5	NM_030770.4(TMPRSS5):c.579-40G>A	noncoding	Benign
11	113695485	C	A	C113695485A	TMPRSS5	NM_030770.4(TMPRSS5):c.579-42G>T	noncoding	Benign
11	113695605	C	A	C113695605A	TMPRSS5	NM_030770.4(TMPRSS5):c.579-162G>T	noncoding	Benign
11	113698853	T	G	T113698853G	TMPRSS5	NM_030770.4(TMPRSS5):c.328+52A>C	noncoding	Benign
11	113699211	G	C	G113699211C	TMPRSS5	NM_030770.4(TMPRSS5):c.206-184C>G	noncoding	Benign
11	113699215	C	G	C113699215G	TMPRSS5	NM_030770.4(TMPRSS5):c.206-188G>C	noncoding	Benign
11	113699237	C	G	C113699237G	TMPRSS5	NM_030770.4(TMPRSS5):c.206-210G>C	noncoding	Benign
11	113699246	T	C	T113699246C	TMPRSS5	NM_030770.4(TMPRSS5):c.206-219A>G	noncoding	Benign
11	113699260	T	C	T113699260C	TMPRSS5	NM_030770.4(TMPRSS5):c.206-233A>G	noncoding	Benign
11	113699486	C	T	C113699486T	TMPRSS5	NM_030770.4(TMPRSS5):c.205+109G>A	noncoding	Benign
11	113699768	T	C	T113699768C	TMPRSS5	NM_030770.4(TMPRSS5):c.107-75A>G	noncoding	Benign
11	113706210	A	G	A113706210G	TMPRSS5	NM_030770.4(TMPRSS5):c.3+12T>C	noncoding	Benign
11	113706310	G	T	G113706310T	TMPRSS5	Single_allele	noncoding	Benign
11	116785632	A	G	A116785632G	ZPR1	NM_003904.5(ZPR1):c.587T>C:p.Ile196Thr	coding	Pathogenic
11	116789970	G	A	G116789970A	APOA5	NM_001371904.1(APOA5):c.*158C>T	noncoding	Benign
11	116790097	G	A	G116790097A	APOA5	NM_001371904.1(APOA5):c.*31C>T	noncoding	Benign
11	116790406	G	A	G116790406A	APOA5	NM_001371904.1(APOA5):c.823C>T:p.Gln275Ter	coding	Pathogenic/Likely_pathogenic
11	116791110	T	C	T116791110C	APOA5	NM_001371904.1(APOA5):c.162-43A>G	noncoding	Benign
11	116791691	G	C	G116791691C	APOA5	NM_001371904.1(APOA5):c.56C>G:p.Ser19Trp	coding	Benign
11	116791757	C	A	C116791757A	APOA5	NM_001371904.1(APOA5):c.49+55G>T	noncoding	Benign
11	116791863	C	T	C116791863T	APOA5	NM_001371904.1(APOA5):c.-3G>A	noncoding	Benign
11	116820918	C	A	C116820918A	APOA4	NM_000482.4(APOA4):c.1140G>T:p.Gln380His	coding	Benign
11	116820959	T	A	T116820959A	APOA4	NM_000482.4(APOA4):c.1099A>T:p.Thr367Ser	coding	Benign
11	116821505	C	T	C116821505T	APOA4	NM_000482.4(APOA4):c.553G>A:p.Glu185Lys	coding	Benign
11	116821577	C	A	C116821577A	APOA4	NM_000482.4(APOA4):c.481G>T:p.Ala161Ser	coding	Benign
11	116821608	G	A	G116821608A	APOA4	NM_000482.4(APOA4):c.450C>T:p.Ala150=	coding	Benign
11	116821618	C	T	C116821618T	APOA4	NM_000482.4(APOA4):c.440G>A:p.Ser147Asn	coding	Benign
11	116821733	G	A	G116821733A	APOA4	NM_000482.4(APOA4):c.325C>T:p.Leu109=	coding	Benign
11	116821836	A	G	A116821836G	APOA4	NM_000482.4(APOA4):c.222T>C:p.Gly74=	coding	Benign
11	116821842	G	A	G116821842A	APOA4	NM_000482.4(APOA4):c.216C>T:p.Tyr72=	coding	Benign
11	116821978	G	A	G116821978A	APOA4	NM_000482.4(APOA4):c.177-97C>T	noncoding	Benign
11	116822097	G	C	G116822097C	APOA4	NM_000482.4(APOA4):c.177-216C>G	noncoding	Benign
11	116822447	A	G	A116822447G	APOA4	NM_000482.4(APOA4):c.176+212T>C	noncoding	Benign
11	116822497	G	A	G116822497A	APOA4	NM_000482.4(APOA4):c.176+162C>T	noncoding	Benign
11	116822637	C	T	C116822637T	APOA4	NM_000482.4(APOA4):c.176+22G>A	noncoding	Benign
11	116822638	G	A	G116822638A	APOA4	NM_000482.4(APOA4):c.176+21C>T	noncoding	Benign
11	116822748	C	T	C116822748T	APOA4	NM_000482.4(APOA4):c.87G>A:p.Thr29=	coding	Benign
11	116823155	C	T	C116823155T	APOA4	NM_000482.4(APOA4):c.37G>A:p.Val13Met	coding	Benign
11	116823289	C	T	C116823289T	APOA4	NM_000482.4(APOA4):c.-98G>A	noncoding	Benign
11	116823339	C	G	C116823339G	APOA4	Single_allele	noncoding	Benign
11	116830406	C	G	C116830406G	APOC3	NM_000040.3(APOC3):c.-13-164C>G	noncoding	Benign
11	116830437	T	G	T116830437G	APOC3	NM_000040.3(APOC3):c.-13-133T>G	noncoding	Benign
11	116830500	G	A	G116830500A	APOC3	NM_000040.3(APOC3):c.-13-70G>A	noncoding	Benign
11	116830508	C	T	C116830508T	APOC3	NM_000040.3(APOC3):c.-13-62C>T	noncoding	Benign
11	116830816	G	A	G116830816A	APOC3	NM_000040.3(APOC3):c.99G>A:p.Gln33=	coding	Benign/Likely_benign
11	116830953	G	A	G116830953A	APOC3	NM_000040.3(APOC3):c.179+57G>A	noncoding	Benign
11	116830958	T	A	T116830958A	APOC3	NM_000040.3(APOC3):c.179+62T>A	noncoding	Benign
11	116831117	G	A	G116831117A	APOC3	NM_000040.3(APOC3):c.179+221G>A	noncoding	Benign
11	116831134	T	C	T116831134C	APOC3	NM_000040.3(APOC3):c.179+238T>C	noncoding	Benign
11	116832682	G	A	G116832682A	APOC3	NM_000040.3(APOC3):c.180-82G>A	noncoding	Benign
11	116832924	G	C	G116832924C	APOC3	NM_000040.3(APOC3):c.*40G>C	noncoding	Benign
11	116832955	G	T	G116832955T	APOC3	NM_000040.3(APOC3):c.*71G>T	noncoding	Benign
11	116835627	T	C	T116835627C	APOA1	Single_allele	noncoding	Benign
11	116835630	A	T	A116835630T	APOA1	Single_allele	noncoding	Benign
11	116836007	A	G	A116836007G	APOA1	NM_000039.3(APOA1):c.605T>C:p.Leu202Pro	coding	Pathogenic
11	116836048	G	C	G116836048C	APOA1	NM_000039.3(APOA1):c.564C>G:p.Ala188=	coding	Benign/Likely_benign
11	116836316	A	G	A116836316G	APOA1	NM_000039.3(APOA1):c.296T>C:p.Leu99Pro	coding	Pathogenic/Likely_pathogenic
11	116836474	G	A	G116836474A	APOA1	NM_000039.3(APOA1):c.201-63C>T	noncoding	Benign
11	116836622	A	G	A116836622G	APOA1	NM_000039.3(APOA1):c.201-211T>C	noncoding	Benign
11	116836685	G	A	G116836685A	APOA1	NM_000039.3(APOA1):c.201-274C>T	noncoding	Benign
11	116836797	C	T	C116836797T	APOA1	NM_000039.3(APOA1):c.200+204G>A	noncoding	Benign
11	116836867	A	G	A116836867G	APOA1	NM_000039.3(APOA1):c.200+134T>C	noncoding	Benign
11	116836968	A	G	A116836968G	APOA1	NM_000039.3(APOA1):c.200+33T>C	noncoding	Benign
11	116837304	A	G	A116837304G	APOA1	NM_000039.3(APOA1):c.43+41T>C	noncoding	Benign
11	116837344	C	A	C116837344A	APOA1;APOA1-AS	NM_000039.3(APOA1):c.43+1G>T	noncoding	Pathogenic
11	116837344	C	G	C116837344G	APOA1	NM_000039.3(APOA1):c.43+1G>C	noncoding	Pathogenic
11	116837538	G	A	G116837538A	APOA1	NM_000039.3(APOA1):c.-21+67C>T	noncoding	Benign
11	116857914	G	C	G116857914C	SIK3	NM_001366686.3(SIK3):c.3551C>G:p.Pro1184Arg	coding	Benign
11	116861796	G	T	G116861796T	SIK3	NM_001366686.3(SIK3):c.2315+45C>A	noncoding	Benign
11	116863829	G	A	G116863829A	SIK3	NM_001366686.3(SIK3):c.1953-11C>T	noncoding	Benign
11	116873673	T	C	T116873673C	SIK3	NM_001366686.3(SIK3):c.1582-37A>G	noncoding	Benign
11	117338552	C	T	C117338552T	CEP164	NM_014956.5(CEP164):c.-21-14C>T	noncoding	Benign
11	117338596	C	T	C117338596T	CEP164	NM_014956.5(CEP164):c.10C>T:p.Arg4Ter	coding	Pathogenic/Likely_pathogenic
11	117338665	C	A	C117338665A	CEP164	NM_014956.5(CEP164):c.79C>A:p.Gln27Lys	coding	Benign/Likely_benign
11	117344297	G	A	G117344297A	CEP164	NM_014956.5(CEP164):c.194+20G>A	noncoding	Benign
11	117361675	A	G	A117361675G	CEP164	NM_014956.5(CEP164):c.394-160A>G	noncoding	Benign
11	117361776	C	T	C117361776T	CEP164	NM_014956.5(CEP164):c.394-59C>T	noncoding	Benign
11	117361892	C	T	C117361892T	CEP164	NM_014956.5(CEP164):c.451C>T:p.Arg151Ter	coding	Pathogenic
11	117362238	A	G	A117362238G	CEP164	NM_014956.5(CEP164):c.553-166A>G	noncoding	Benign
11	117362553	C	T	C117362553T	CEP164	NM_014956.5(CEP164):c.687+15C>T	noncoding	Benign
11	117362711	C	T	C117362711T	CEP164	NM_014956.5(CEP164):c.687+173C>T	noncoding	Benign
11	117363467	C	T	C117363467T	CEP164	NM_014956.5(CEP164):c.726C>T:p.His242=	coding	Benign
11	117371044	T	A	T117371044A	CEP164	NM_014956.5(CEP164):c.766-36T>A	noncoding	Benign
11	117371142	C	T	C117371142T	CEP164	NM_014956.5(CEP164):c.828C>T:p.Ala276=	coding	Benign
11	117380427	A	G	A117380427G	CEP164	NM_014956.5(CEP164):c.1318-187A>G	noncoding	Benign
11	117380503	C	A	C117380503A	CEP164	NM_014956.5(CEP164):c.1318-111C>A	noncoding	Benign
11	117380695	C	T	C117380695T	CEP164	NM_014956.5(CEP164):c.1399C>T:p.Leu467=	coding	Benign
11	117380805	G	C	G117380805C	CEP164	NM_014956.5(CEP164):c.1409+100G>C	noncoding	Benign
11	117381699	A	G	A117381699G	CEP164	NM_014956.5(CEP164):c.1410-2A>G	noncoding	Benign
11	117381735	C	T	C117381735T	CEP164	NM_014956.5(CEP164):c.1444C>T:p.Gln482Ter	coding	Pathogenic
11	117387160	G	T	G117387160T	CEP164	NM_014956.5(CEP164):c.1725-43G>T	noncoding	Benign
11	117387482	T	C	T117387482C	CEP164	NM_014956.5(CEP164):c.1934+70T>C	noncoding	Benign
11	117390838	G	T	G117390838T	CEP164	NM_014956.5(CEP164):c.1996G>T:p.Glu666Ter	coding	Pathogenic
11	117392387	T	C	T117392387C	CEP164	NM_014956.5(CEP164):c.2361+84T>C	noncoding	Benign
11	117392481	C	T	C117392481T	CEP164	NM_014956.5(CEP164):c.2362-15C>T	noncoding	Benign
11	117392900	T	G	T117392900G	CEP164	NM_014956.5(CEP164):c.2494-104T>G	noncoding	Benign
11	117393019	C	T	C117393019T	CEP164	NM_014956.5(CEP164):c.2509C>T:p.Arg837Ter	coding	Pathogenic
11	117394389	G	T	G117394389T	CEP164	NM_014956.5(CEP164):c.2656G>T:p.Gly886Ter	coding	Pathogenic
11	117395378	G	A	G117395378A	CEP164	NM_014956.5(CEP164):c.2914-169G>A	noncoding	Benign
11	117395625	C	T	C117395625T	CEP164	NM_014956.5(CEP164):c.2992C>T:p.Arg998Ter	coding	Pathogenic
11	117395688	C	T	C117395688T	CEP164	NM_014956.5(CEP164):c.3055C>T:p.Gln1019Ter	coding	Pathogenic
11	117395750	T	C	T117395750C	CEP164	NM_014956.5(CEP164):c.3089+28T>C	noncoding	Benign
11	117395932	G	C	G117395932C	CEP164	NM_014956.5(CEP164):c.3090-122G>C	noncoding	Benign
11	117396006	C	G	C117396006G	CEP164	NM_014956.5(CEP164):c.3090-48C>G	noncoding	Benign
11	117396073	C	T	C117396073T	CEP164	NM_014956.5(CEP164):c.3109C>T:p.Gln1037Ter	coding	Pathogenic
11	117396111	G	A	G117396111A	CEP164	NM_014956.5(CEP164):c.3147G>A:p.Glu1049=	coding	Benign
11	117397358	C	G	C117397358G	CEP164	NM_014956.5(CEP164):c.3501+45C>G	noncoding	Benign
11	117409868	A	G	A117409868G	CEP164	NM_014956.5(CEP164):c.3999A>G:p.Gln1333=	coding	Benign
11	117411918	G	T	G117411918T	CEP164	NM_014956.5(CEP164):c.4286+1G>T	coding	Pathogenic
11	117412026	C	T	C117412026T	CEP164	NM_014956.5(CEP164):c.4287-46C>T	noncoding	Benign
11	117412263	C	G	C117412263G	CEP164	NM_014956.5(CEP164):c.*95C>G	noncoding	Benign
11	117428406	G	A	G117428406A	DSCAML1	NM_020693.4(DSCAML1):c.6084C>T:p.Leu2028=	coding	Benign
11	117428557	G	C	G117428557C	DSCAML1	NM_020693.4(DSCAML1):c.5933C>G:p.Ala1978Gly	coding	Benign
11	117428613	C	G	C117428613G	DSCAML1	NM_020693.4(DSCAML1):c.5877G>C:p.Gly1959=	coding	Benign
11	117428727	G	A	G117428727A	DSCAML1	NM_020693.4(DSCAML1):c.5763C>T:p.Pro1921=	coding	Benign
11	117428730	G	A	G117428730A	DSCAML1	NM_020693.4(DSCAML1):c.5760C>T:p.Cys1920=	coding	Benign
11	117428817	G	A	G117428817A	DSCAML1	NM_020693.4(DSCAML1):c.5687-14C>T	noncoding	Benign
11	117430765	C	T	C117430765T	DSCAML1	NM_020693.4(DSCAML1):c.5643G>A:p.Arg1881=	coding	Benign
11	117431740	G	A	G117431740A	DSCAML1	NM_020693.4(DSCAML1):c.5180-12C>T	noncoding	Benign
11	117432392	T	C	T117432392C	DSCAML1	NM_020693.4(DSCAML1):c.5139A>G:p.Thr1713=	coding	Benign
11	117432516	A	G	A117432516G	DSCAML1	NM_020693.4(DSCAML1):c.5027-12T>C	noncoding	Benign
11	117433121	T	G	T117433121G	DSCAML1	NM_020693.4(DSCAML1):c.5026+17A>C	noncoding	Benign
11	117433142	T	C	T117433142C	DSCAML1	NM_020693.4(DSCAML1):c.5022A>G:p.Gln1674=	coding	Benign
11	117433480	C	T	C117433480T	DSCAML1	NM_020693.4(DSCAML1):c.4877-9G>A	noncoding	Benign
11	117437902	G	A	G117437902A	DSCAML1	NM_020693.4(DSCAML1):c.4425C>T:p.His1475=	coding	Benign
11	117438019	G	A	G117438019A	DSCAML1	NM_020693.4(DSCAML1):c.4308C>T:p.Ser1436=	coding	Benign
11	117438079	G	A	G117438079A	DSCAML1	NM_020693.4(DSCAML1):c.4248C>T:p.Phe1416=	coding	Benign
11	117438087	C	T	C117438087T	DSCAML1	NM_020693.4(DSCAML1):c.4244-4G>A	noncoding	Benign
11	117438865	G	A	G117438865A	DSCAML1	NM_020693.4(DSCAML1):c.4243+20C>T	noncoding	Benign
11	117439273	C	T	C117439273T	DSCAML1	NM_020693.4(DSCAML1):c.4137G>A:p.Leu1379=	coding	Benign
11	117439306	A	G	A117439306G	DSCAML1	NM_020693.4(DSCAML1):c.4104T>C:p.Thr1368=	coding	Benign
11	117444043	C	T	C117444043T	DSCAML1	NM_020693.4(DSCAML1):c.3709-4G>A	noncoding	Benign
11	117450704	G	T	G117450704T	DSCAML1	NM_020693.4(DSCAML1):c.3569-16C>A	noncoding	Benign
11	117464970	G	A	G117464970A	DSCAML1	NM_020693.4(DSCAML1):c.3237C>T:p.Ser1079=	coding	Benign
11	117464994	C	G	C117464994G	DSCAML1	NM_020693.4(DSCAML1):c.3213G>C:p.Arg1071=	coding	Benign
11	117465006	T	C	T117465006C	DSCAML1	NM_020693.4(DSCAML1):c.3201A>G:p.Gln1067=	coding	Benign
11	117469994	C	T	C117469994T	DSCAML1	NM_020693.4(DSCAML1):c.2954-14G>A	noncoding	Benign
11	117471957	T	C	T117471957C	DSCAML1	NM_020693.4(DSCAML1):c.2865A>G:p.Ala955=	coding	Benign
11	117480432	C	T	C117480432T	DSCAML1	NM_020693.4(DSCAML1):c.2785+11G>A	noncoding	Benign
11	117481279	C	T	C117481279T	DSCAML1	NM_020693.4(DSCAML1):c.2560-9G>A	noncoding	Benign
11	117482142	G	A	G117482142A	DSCAML1	NM_020693.4(DSCAML1):c.2380C>T:p.His794Tyr	coding	Benign
11	117482168	G	A	G117482168A	DSCAML1	NM_020693.4(DSCAML1):c.2360-6C>T	noncoding	Benign
11	117505695	G	A	G117505695A	DSCAML1	NM_020693.4(DSCAML1):c.1821C>T:p.Ala607=	coding	Benign
11	117505698	G	A	G117505698A	DSCAML1	NM_020693.4(DSCAML1):c.1818C>T:p.Pro606=	coding	Benign
11	117505710	G	A	G117505710A	DSCAML1	NM_020693.4(DSCAML1):c.1806C>T:p.Phe602=	coding	Benign
11	117518671	C	T	C117518671T	DSCAML1	NM_020693.4(DSCAML1):c.1305G>A:p.Pro435=	coding	Benign
11	117518780	C	T	C117518780T	DSCAML1	NM_020693.4(DSCAML1):c.1214-18G>A	noncoding	Benign
11	117521182	G	A	G117521182A	DSCAML1	NM_020693.4(DSCAML1):c.1161C>T:p.Phe387=	coding	Benign/Likely_benign
11	117521251	G	A	G117521251A	DSCAML1	NM_020693.4(DSCAML1):c.1092C>T:p.Arg364=	coding	Benign
11	117521280	C	A	C117521280A	DSCAML1	NM_020693.4(DSCAML1):c.1063G>T:p.Val355Leu	coding	Benign
11	117521365	G	A	G117521365A	DSCAML1	NM_020693.4(DSCAML1):c.978C>T:p.Thr326=	coding	Benign
11	117521395	A	G	A117521395G	DSCAML1	NM_020693.4(DSCAML1):c.948T>C:p.His316=	coding	Benign
11	117524875	G	A	G117524875A	DSCAML1	NM_020693.4(DSCAML1):c.867C>T:p.Ser289=	coding	Benign
11	117524992	C	T	C117524992T	DSCAML1	NM_020693.4(DSCAML1):c.750G>A:p.Ser250=	coding	Benign
11	117525064	G	A	G117525064A	DSCAML1	NM_020693.4(DSCAML1):c.678C>T:p.Pro226=	coding	Benign
11	117532520	G	T	G117532520T	DSCAML1	NM_020693.4(DSCAML1):c.514C>A:p.His172Asn	coding	Benign
11	117776781	C	T	C117776781T	DSCAML1	NM_020693.4(DSCAML1):c.511+10G>A	noncoding	Benign
11	117797208	C	A	C117797208A	DSCAML1	NM_020693.4(DSCAML1):c.-129G>T	coding	Benign
11	117820430	C	T	C117820430T	FXYD2	NM_001680.5(FXYD2):c.*7-58G>A	noncoding	Benign
11	117820433	C	T	C117820433T	FXYD2	NM_001680.5(FXYD2):c.*7-61G>A	noncoding	Benign
11	117820637	C	T	C117820637T	FXYD2	NM_001680.5(FXYD2):c.*6+29G>A	noncoding	Benign
11	117821059	T	C	T117821059C	FXYD2	NM_001680.5(FXYD2):c.140-164A>G	noncoding	Benign
11	117822127	T	C	T117822127C	FXYD2	NM_001680.5(FXYD2):c.139+279A>G	noncoding	Benign
11	117822321	A	G	A117822321G	FXYD2	NM_001680.5(FXYD2):c.139+85T>C	noncoding	Benign
11	117822540	T	C	T117822540C	FXYD2	NM_001680.5(FXYD2):c.65-60A>G	noncoding	Benign
11	117822722	G	A	G117822722A	FXYD2	NM_001680.5(FXYD2):c.26-5C>T	noncoding	Benign
11	117824625	C	T	C117824625T	FXYD2	NM_001680.5(FXYD2):c.25+29G>A	noncoding	Benign
11	117824950	T	C	T117824950C	FXYD2	NM_021603.4(FXYD2):c.20-2233A>G	noncoding	Benign
11	117827768	A	G	A117827768G	FXYD2	NM_021603.4(FXYD2):c.19+227T>C	noncoding	Benign
11	117828047	G	A	G117828047A	FXYD2	NM_021603.4(FXYD2):c.-34C>T	coding	Benign
11	117986053	G	T	G117986053T	IL10RA	NC_000011.9:g.117856768G>T	noncoding	Benign
11	117988366	A	G	A117988366G	IL10RA	NM_001558.4(IL10RA):c.68-16A>G	noncoding	Benign
11	117993223	C	A	C117993223A	IL10RA	NM_001558.4(IL10RA):c.368-18C>A	noncoding	Benign
11	117993223	C	G	C117993223G	IL10RA	NM_001558.4(IL10RA):c.368-18C>G	noncoding	Benign
11	117995656	C	A	C117995656A	IL10RA	NM_001558.4(IL10RA):c.756C>A:p.Tyr252Ter	coding	Pathogenic
11	118136665	C	A	C118136665A	SCN4B	NM_174934.4(SCN4B):c.*362G>T	noncoding	Benign/Likely_benign
11	118136699	C	T	C118136699T	SCN4B	NM_174934.4(SCN4B):c.*328G>A	noncoding	Benign
11	118136819	T	G	T118136819G	SCN4B	NM_174934.4(SCN4B):c.*208A>C	noncoding	Benign
11	118136869	G	A	G118136869A	SCN4B	NM_174934.4(SCN4B):c.*158C>T	noncoding	Benign
11	118136902	G	A	G118136902A	SCN4B	NM_174934.4(SCN4B):c.*125C>T	noncoding	Benign
11	118137017	G	A	G118137017A	SCN4B	NM_174934.4(SCN4B):c.*10C>T	noncoding	Benign
11	118137090	A	G	A118137090G	SCN4B	NM_174934.4(SCN4B):c.624T>C:p.Asn208=	coding	Benign/Likely_benign
11	118137096	C	T	C118137096T	SCN4B	NM_174934.4(SCN4B):c.618G>A:p.Ser206=	coding	Benign/Likely_benign
11	118141436	C	T	C118141436T	SCN4B	NM_174934.4(SCN4B):c.464-100G>A	noncoding	Benign
11	118141437	C	T	C118141437T	SCN4B	NM_174934.4(SCN4B):c.464-101G>A	noncoding	Benign
11	118141463	C	T	C118141463T	SCN4B	NM_174934.4(SCN4B):c.464-127G>A	noncoding	Benign
11	118144074	G	A	G118144074A	SCN4B	NM_174934.4(SCN4B):c.235-13C>T	noncoding	Benign/Likely_benign
11	118144176	A	T	A118144176T	SCN4B	NM_174934.4(SCN4B):c.235-115T>A	noncoding	Benign
11	118145308	G	T	G118145308T	SCN4B	NM_174934.4(SCN4B):c.62-79C>A	coding	Benign
11	118152722	G	A	G118152722A	SCN4B	NM_174934.4(SCN4B):c.-49C>T	noncoding	Benign
11	118152764	A	C	A118152764C	SCN4B	NM_174934.4(SCN4B):c.-91T>G	noncoding	Benign
11	118152817	A	C	A118152817C	SCN4B	NM_174934.4(SCN4B):c.-144T>G	noncoding	Benign
11	118152851	G	C	G118152851C	SCN4B	Single_allele	noncoding	Benign
11	118152895	A	T	A118152895T	SCN4B	NM_174934.3(SCN4B):c.-222T>A	noncoding	Benign/Likely_benign
11	118166849	G	A	G118166849A	SCN2B	NM_004588.5(SCN2B):c.*38C>T	noncoding	Benign
11	118166923	C	T	C118166923T	SCN2B	NM_004588.5(SCN2B):c.612G>A:p.Thr204=	coding	Benign
11	118167253	C	T	C118167253T	SCN2B	NM_004588.5(SCN2B):c.449-167G>A	noncoding	Benign
11	118168026	C	T	C118168026T	SCN2B	NM_004588.5(SCN2B):c.448+59G>A	noncoding	Benign
11	118168509	C	T	C118168509T	SCN2B	NM_004588.5(SCN2B):c.237+76G>A	noncoding	Benign
11	118168558	T	C	T118168558C	SCN2B	NM_004588.5(SCN2B):c.237+27A>G	noncoding	Benign
11	118260334	T	C	T118260334C	MPZL2	NM_005797.4(MPZL2):c.437-133A>G	noncoding	Benign
11	118260427	A	G	A118260427G	MPZL2	NM_005797.4(MPZL2):c.437-226T>C	noncoding	Benign
11	118262619	T	C	T118262619C	MPZL2	NM_005797.4(MPZL2):c.255A>G:p.Gln85=	coding	Benign
11	118262650	T	A	T118262650A	MPZL2	NM_005797.4(MPZL2):c.226-2A>T	noncoding	Pathogenic
11	118264070	T	G	T118264070G	MPZL2	NM_005797.4(MPZL2):c.58+26A>C	noncoding	Benign
11	118264734	C	T	C118264734T	MPZL2	Single_allele	noncoding	Benign
11	118304825	A	G	A118304825G	CD3E	NM_000733.4(CD3E):c.-60+49A>G	noncoding	Benign
11	118308327	T	C	T118308327C	CD3E	NM_000733.4(CD3E):c.71-100T>C	noncoding	Benign
11	118308457	C	T	C118308457T	CD3E	NM_000733.4(CD3E):c.85+16C>T	noncoding	Benign
11	118308482	A	G	A118308482G	CD3E	NM_000733.4(CD3E):c.85+41A>G	noncoding	Benign
11	118308485	G	A	G118308485A	CD3E	NM_000733.4(CD3E):c.85+44G>A	noncoding	Benign
11	118311945	T	C	T118311945C	CD3E	NM_000733.4(CD3E):c.86-208T>C	noncoding	Benign
11	118312086	G	A	G118312086A	CD3E	NM_000733.4(CD3E):c.86-67G>A	noncoding	Benign
11	118312114	T	A	T118312114A	CD3E	NM_000733.4(CD3E):c.86-39T>A	noncoding	Benign
11	118313018	C	T	C118313018T	CD3E	NM_000733.4(CD3E):c.352+152C>T	noncoding	Benign
11	118313556	T	C	T118313556C	CD3E	NM_000733.4(CD3E):c.353-151T>C	noncoding	Benign
11	118313696	A	T	A118313696T	CD3E	NM_000733.4(CD3E):c.353-11A>T	noncoding	Benign/Likely_benign
11	118314425	T	C	T118314425C	CD3E	NM_000733.4(CD3E):c.521-23T>C	noncoding	Benign
11	118314631	G	A	G118314631A	CD3E	NM_000733.4(CD3E):c.567+137G>A	noncoding	Benign
11	118314777	T	C	T118314777C	CD3E	NM_000733.4(CD3E):c.567+283T>C	noncoding	Benign
11	118315204	A	G	A118315204G	CD3E	NM_000733.4(CD3E):c.568-282A>G	noncoding	Benign
11	118339391	G	C	G118339391C	CD3D	NM_000732.6(CD3D):c.450+60C>G	noncoding	Benign
11	118339924	A	G	A118339924G	CD3D	NM_000732.6(CD3D):c.275-18T>C	noncoding	Benign
11	118340610	A	G	A118340610G	CD3D	NM_000732.6(CD3D):c.56-17T>C	noncoding	Benign/Likely_benign
11	118342917	C	T	C118342917T	CD3D	Single_allele	noncoding	Benign
11	118349042	C	G	C118349042G	CD3G	NM_000073.3(CD3G):c.71C>G:p.Ser24Ter	coding	Pathogenic
11	118349841	A	T	A118349841T	CD3G	NM_000073.3(CD3G):c.178A>T:p.Lys60Ter	coding	Pathogenic
11	118350694	G	A	G118350694A	CD3G	NM_000073.3(CD3G):c.439+11G>A	noncoding	Benign
11	118352416	C	T	C118352416T	CD3G	NM_000073.3(CD3G):c.496C>T:p.Arg166Ter	coding	Pathogenic
11	118369511	G	A	G118369511A	UBE4A	NM_001204077.2(UBE4A):c.384G>A:p.Trp128Ter	coding	Pathogenic
11	118372576	C	T	C118372576T	UBE4A	NM_001204077.2(UBE4A):c.631C>T:p.Arg211Ter	coding	Pathogenic
11	118436647	G	A	G118436647A	KMT2A	NM_001197104.2(KMT2A):c.135G>A:p.Pro45=	coding	Benign
11	118436659	C	T	C118436659T	KMT2A	NM_001197104.2(KMT2A):c.147C>T:p.Gly49=	coding	Benign
11	118436730	G	A	G118436730A	KMT2A	NM_001197104.2(KMT2A):c.218G>A:p.Gly73Glu	coding	Benign/Likely_benign
11	118436739	G	C	G118436739C	KMT2A	NM_001197104.2(KMT2A):c.227G>C:p.Gly76Ala	coding	Benign
11	118436881	C	T	C118436881T	KMT2A	NM_001197104.2(KMT2A):c.369C>T:p.Gly123=	coding	Benign
11	118468854	A	G	A118468854G	KMT2A	NM_001197104.2(KMT2A):c.502+10A>G	noncoding	Benign
11	118471839	C	A	C118471839A	KMT2A	NM_001197104.2(KMT2A):c.680C>A:p.Thr227Asn	coding	Benign
11	118471890	T	G	T118471890G	KMT2A	NM_001197104.2(KMT2A):c.731T>G:p.Leu244Ter	coding	Pathogenic
11	118471966	G	A	G118471966A	KMT2A	NM_001197104.2(KMT2A):c.807G>A:p.Lys269=	coding	Benign
11	118472688	A	G	A118472688G	KMT2A	NM_001197104.2(KMT2A):c.1529A>G:p.His510Arg	coding	Benign
11	118472787	C	G	C118472787G	KMT2A	NM_001197104.2(KMT2A):c.1628C>G:p.Thr543Arg	coding	Benign
11	118472819	C	T	C118472819T	KMT2A	NM_001197104.2(KMT2A):c.1660C>T:p.Gln554Ter	coding	Pathogenic
11	118472875	G	T	G118472875T	KMT2A	NM_001197104.2(KMT2A):c.1716G>T:p.Leu572=	coding	Benign
11	118472996	C	T	C118472996T	KMT2A	NM_001197104.2(KMT2A):c.1837C>T:p.Arg613Ter	coding	Pathogenic
11	118473134	G	T	G118473134T	KMT2A	NM_001197104.2(KMT2A):c.1975G>T:p.Glu659Ter	coding	Pathogenic
11	118473572	C	T	C118473572T	KMT2A	NM_001197104.2(KMT2A):c.2413C>T:p.Gln805Ter	coding	Pathogenic
11	118473579	G	A	G118473579A	KMT2A	NM_001197104.2(KMT2A):c.2420G>A:p.Gly807Glu	coding	Benign
11	118473611	A	T	A118473611T	KMT2A	NM_001197104.2(KMT2A):c.2452A>T:p.Lys818Ter	coding	Pathogenic
11	118473642	C	G	C118473642G	KMT2A	NM_001197104.2(KMT2A):c.2483C>G:p.Ser828Ter	coding	Pathogenic
11	118473728	G	T	G118473728T	KMT2A	NM_001197104.2(KMT2A):c.2569G>T:p.Glu857Ter	coding	Pathogenic
11	118473849	C	G	C118473849G	KMT2A	NM_001197104.2(KMT2A):c.2690C>G:p.Ser897Ter	coding	Pathogenic
11	118473885	G	A	G118473885A	KMT2A	NM_001197104.2(KMT2A):c.2726G>A:p.Gly909Asp	coding	Benign/Likely_benign
11	118473918	A	G	A118473918G	KMT2A	NM_001197104.2(KMT2A):c.2759A>G:p.Asp920Gly	coding	Benign
11	118474102	A	G	A118474102G	KMT2A	NM_001197104.2(KMT2A):c.2943A>G:p.Pro981=	coding	Benign/Likely_benign
11	118474124	C	T	C118474124T	KMT2A	NM_001197104.2(KMT2A):c.2965C>T:p.Leu989Phe	coding	Benign/Likely_benign
11	118474402	T	A	T118474402A	KMT2A	NM_001197104.2(KMT2A):c.3156+87T>A	noncoding	Benign
11	118476876	T	C	T118476876C	KMT2A	NM_001197104.2(KMT2A):c.3228T>C:p.Ala1076=	coding	Benign
11	118476889	C	T	C118476889T	KMT2A	NM_001197104.2(KMT2A):c.3241C>T:p.Arg1081Ter	coding	Pathogenic
11	118477929	A	G	A118477929G	KMT2A	NM_001197104.2(KMT2A):c.3335-38A>G	noncoding	Benign
11	118478195	G	T	G118478195T	KMT2A	NM_001197104.2(KMT2A):c.3563G>T:p.Cys1188Phe	coding	Pathogenic
11	118478248	G	T	G118478248T	KMT2A	NM_001197104.2(KMT2A):c.3569+47G>T	noncoding	Benign
11	118478532	C	T	C118478532T	KMT2A	NM_001197104.2(KMT2A):c.3569+331C>T	noncoding	Benign
11	118480239	G	A	G118480239A	KMT2A	NM_001197104.2(KMT2A):c.3634+1G>A	coding	Pathogenic
11	118480242	G	A	G118480242A	KMT2A	NM_001197104.2(KMT2A):c.3634+4G>A	noncoding	Benign/Likely_benign
11	118480265	C	A	C118480265A	KMT2A	NM_001197104.2(KMT2A):c.3634+27C>A	noncoding	Benign
11	118481764	C	T	C118481764T	KMT2A	NM_001197104.2(KMT2A):c.3684C>T:p.Ser1228=	coding	Benign/Likely_benign
11	118481879	G	A	G118481879A	KMT2A	NM_001197104.2(KMT2A):c.3799G>A:p.Val1267Ile	coding	Benign
11	118481987	C	G	C118481987G	KMT2A	NM_001197104.2(KMT2A):c.3907C>G:p.Leu1303Val	coding	Benign
11	118482054	G	A	G118482054A	KMT2A	NM_001197104.2(KMT2A):c.3974G>A:p.Ser1325Asn	coding	Benign/Likely_benign
11	118484035	T	A	T118484035A	KMT2A	NM_001197104.2(KMT2A):c.4087-148T>A	noncoding	Benign
11	118484160	A	G	A118484160G	KMT2A	NM_001197104.2(KMT2A):c.4087-23A>G	noncoding	Benign
11	118484334	A	G	A118484334G	KMT2A	NM_001197104.2(KMT2A):c.4218+20A>G	noncoding	Benign/Likely_benign
11	118484339	G	T	G118484339T	KMT2A	NM_001197104.2(KMT2A):c.4218+25G>T	noncoding	Benign
11	118484837	C	T	C118484837T	KMT2A	NM_001197104.2(KMT2A):c.4219-25C>T	noncoding	Benign
11	118488446	G	A	G118488446A	KMT2A	NM_001197104.2(KMT2A):c.4333-168G>A	noncoding	Benign
11	118488650	A	G	A118488650G	KMT2A	NM_001197104.2(KMT2A):c.4369A>G:p.Lys1457Glu	coding	Benign/Likely_benign
11	118488777	T	C	T118488777C	KMT2A	NM_001197104.2(KMT2A):c.4479+17T>C	noncoding	Benign
11	118491019	G	A	G118491019A	KMT2A	NM_001197104.2(KMT2A):c.4697-177G>A	noncoding	Benign
11	118491338	A	G	A118491338G	KMT2A	NM_001197104.2(KMT2A):c.4819+20A>G	noncoding	Benign
11	118491699	T	C	T118491699C	KMT2A	NM_001197104.2(KMT2A):c.4820-45T>C	noncoding	Benign
11	118491830	C	T	C118491830T	KMT2A	NM_001197104.2(KMT2A):c.4906C>T:p.Arg1636Ter	coding	Pathogenic/Likely_pathogenic
11	118492154	T	C	T118492154C	KMT2A	NM_001197104.2(KMT2A):c.5004+226T>C	noncoding	Benign
11	118494369	A	T	A118494369T	KMT2A	NM_001197104.2(KMT2A):c.5260A>T:p.Asn1754Tyr	coding	Pathogenic
11	118494403	A	G	A118494403G	KMT2A	NM_001197104.2(KMT2A):c.5289+5A>G	noncoding	Benign/Likely_benign
11	118494453	G	A	G118494453A	KMT2A	NM_001197104.2(KMT2A):c.5289+55G>A	noncoding	Benign
11	118494548	C	T	C118494548T	KMT2A	NM_001197104.2(KMT2A):c.5290-146C>T	noncoding	Benign
11	118494768	G	A	G118494768A	KMT2A	NM_001197104.2(KMT2A):c.5363+1G>A	coding	Pathogenic
11	118495767	C	T	C118495767T	KMT2A	NM_001197104.2(KMT2A):c.5431C>T:p.Arg1811Ter	coding	Pathogenic/Likely_pathogenic
11	118495834	A	G	A118495834G	KMT2A	NM_001197104.2(KMT2A):c.5498A>G:p.Lys1833Arg	coding	Benign
11	118495916	G	A	G118495916A	KMT2A	NM_001197104.2(KMT2A):c.5557+23G>A	noncoding	Benign
11	118496275	C	T	C118496275T	KMT2A	NM_001197104.2(KMT2A):c.5572C>T:p.Arg1858Ter	coding	Pathogenic
11	118496399	A	T	A118496399T	KMT2A	NM_001197104.2(KMT2A):c.5664+32A>T	noncoding	Benign
11	118498004	G	A	G118498004A	KMT2A	NM_001197104.2(KMT2A):c.5733G>A:p.Ala1911=	coding	Benign/Likely_benign
11	118498049	G	A	G118498049A	KMT2A	NM_001197104.2(KMT2A):c.5778G>A:p.Met1926Ile	coding	Benign
11	118498085	T	C	T118498085C	KMT2A	NM_001197104.2(KMT2A):c.5802+12T>C	noncoding	Benign
11	118498107	T	G	T118498107G	KMT2A	NM_001197104.2(KMT2A):c.5802+34T>G	noncoding	Benign
11	118498502	C	T	C118498502T	KMT2A	NM_001197104.2(KMT2A):c.5935C>T:p.Arg1979Ter	coding	Pathogenic
11	118499938	G	C	G118499938C	KMT2A	NM_001197104.2(KMT2A):c.6158+25G>C	noncoding	Benign
11	118501116	G	C	G118501116C	KMT2A	NM_001197104.2(KMT2A):c.6288G>C:p.Arg2096Ser	coding	Benign
11	118501802	A	G	A118501802G	KMT2A	NM_001197104.2(KMT2A):c.6450A>G:p.Thr2150=	coding	Benign
11	118502464	G	A	G118502464A	KMT2A	NM_001197104.2(KMT2A):c.6572G>A:p.Arg2191Gln	coding	Benign/Likely_benign
11	118502468	C	T	C118502468T	KMT2A	NM_001197104.2(KMT2A):c.6576C>T:p.Ser2192=	coding	Benign
11	118502539	T	C	T118502539C	KMT2A	NM_001197104.2(KMT2A):c.6647T>C:p.Met2216Thr	coding	Benign
11	118502736	C	T	C118502736T	KMT2A	NM_001197104.2(KMT2A):c.6844C>T:p.His2282Tyr	coding	Benign
11	118502915	A	C	A118502915C	KMT2A	NM_001197104.2(KMT2A):c.7023A>C:p.Thr2341=	coding	Benign
11	118502962	C	G	C118502962G	KMT2A	NM_001197104.2(KMT2A):c.7070C>G:p.Pro2357Arg	coding	Benign
11	118503028	G	A	G118503028A	KMT2A	NM_001197104.2(KMT2A):c.7136G>A:p.Arg2379Lys	coding	Benign
11	118503196	C	G	C118503196G	KMT2A	NM_001197104.2(KMT2A):c.7304C>G:p.Ser2435Cys	coding	Benign/Likely_benign
11	118503367	A	G	A118503367G	KMT2A	NM_001197104.2(KMT2A):c.7475A>G:p.Asp2492Gly	coding	Benign/Likely_benign
11	118503406	C	A	C118503406A	KMT2A	NM_001197104.2(KMT2A):c.7514C>A:p.Pro2505His	coding	Benign/Likely_benign
11	118503806	T	A	T118503806A	KMT2A	NM_001197104.2(KMT2A):c.7914T>A:p.Tyr2638Ter	coding	Pathogenic
11	118503875	G	C	G118503875C	KMT2A	NM_001197104.2(KMT2A):c.7983G>C:p.Lys2661Asn	coding	Benign/Likely_benign
11	118504106	G	A	G118504106A	KMT2A	NM_001197104.2(KMT2A):c.8214G>A:p.Arg2738=	coding	Benign
11	118504199	T	C	T118504199C	KMT2A	NM_001197104.2(KMT2A):c.8307T>C:p.His2769=	coding	Benign/Likely_benign
11	118504524	C	T	C118504524T	KMT2A	NM_001197104.2(KMT2A):c.8632C>T:p.Leu2878=	coding	Benign/Likely_benign
11	118504542	T	C	T118504542C	KMT2A	NM_001197104.2(KMT2A):c.8650T>C:p.Leu2884=	coding	Benign
11	118505328	C	T	C118505328T	KMT2A	NM_001197104.2(KMT2A):c.9436C>T:p.Gln3146Ter	coding	Pathogenic
11	118505476	C	T	C118505476T	KMT2A	NM_001197104.2(KMT2A):c.9584C>T:p.Pro3195Leu	coding	Benign
11	118505477	G	A	G118505477A	KMT2A	NM_001197104.2(KMT2A):c.9585G>A:p.Pro3195=	coding	Benign
11	118505796	G	A	G118505796A	KMT2A	NM_001197104.2(KMT2A):c.9904G>A:p.Ala3302Thr	coding	Benign/Likely_benign
11	118505984	C	T	C118505984T	KMT2A	NM_001197104.2(KMT2A):c.10092C>T:p.His3364=	coding	Benign/Likely_benign
11	118506159	A	G	A118506159G	KMT2A	NM_001197104.2(KMT2A):c.10267A>G:p.Ile3423Val	coding	Benign
11	118506205	C	T	C118506205T	KMT2A	NM_001197104.2(KMT2A):c.10313C>T:p.Thr3438Met	coding	Benign
11	118506210	A	G	A118506210G	KMT2A	NM_001197104.2(KMT2A):c.10318A>G:p.Ile3440Val	coding	Benign/Likely_benign
11	118506267	A	G	A118506267G	KMT2A	NM_001197104.2(KMT2A):c.10375A>G:p.Asn3459Asp	coding	Benign
11	118506293	G	T	G118506293T	KMT2A	NM_001197104.2(KMT2A):c.10401G>T:p.Gly3467=	coding	Benign
11	118506367	C	T	C118506367T	KMT2A	NM_001197104.2(KMT2A):c.10475C>T:p.Ala3492Val	coding	Benign/Likely_benign
11	118506439	G	A	G118506439A	KMT2A	NM_001197104.2(KMT2A):c.10547G>A:p.Gly3516Glu	coding	Benign/Likely_benign
11	118506607	T	G	T118506607G	KMT2A	NM_001197104.2(KMT2A):c.10715T>G:p.Ile3572Ser	coding	Benign/Likely_benign
11	118506808	G	A	G118506808A	KMT2A	NM_001197104.2(KMT2A):c.10754+162G>A	noncoding	Benign
11	118509090	T	C	T118509090C	KMT2A	NM_001197104.2(KMT2A):c.10836-46T>C	noncoding	Benign
11	118509108	T	C	T118509108C	KMT2A	NM_001197104.2(KMT2A):c.10836-28T>C	noncoding	Benign
11	118509226	A	G	A118509226G	KMT2A	NM_001197104.2(KMT2A):c.10900+26A>G	noncoding	Benign
11	118510354	C	T	C118510354T	KMT2A	NM_001197104.2(KMT2A):c.11071+236C>T	noncoding	Benign
11	118511907	C	T	C118511907T	KMT2A	NM_001197104.2(KMT2A):c.11072-44C>T	noncoding	Benign
11	118511948	C	T	C118511948T	KMT2A	NM_001197104.2(KMT2A):c.11072-3C>T	coding	Benign/Likely_benign
11	118511992	T	A	T118511992A	KMT2A	NM_001197104.2(KMT2A):c.11113T>A:p.Ser3705Thr	coding	Benign
11	118519367	A	C	A118519367C	KMT2A	NM_001197104.2(KMT2A):c.11147-251A>C	noncoding	Benign
11	118519583	G	A	G118519583A	KMT2A	NM_001197104.2(KMT2A):c.11147-35G>A	coding	Benign
11	118519909	G	A	G118519909A	KMT2A	NM_001197104.2(KMT2A):c.11322-48G>A	noncoding	Benign
11	118520083	G	A	G118520083A	KMT2A	NM_001197104.2(KMT2A):c.11429+19G>A	noncoding	Benign
11	118520660	A	G	A118520660G	KMT2A	NM_001197104.2(KMT2A):c.11430-142A>G	noncoding	Benign
11	118520687	C	T	C118520687T	KMT2A	NM_001197104.2(KMT2A):c.11430-115C>T	noncoding	Benign
11	118520965	C	T	C118520965T	KMT2A	NM_001197104.2(KMT2A):c.11513+80C>T	noncoding	Benign
11	118521851	G	A	G118521851A	KMT2A	NM_001197104.2(KMT2A):c.11644-46G>A	noncoding	Benign
11	118522469	A	G	A118522469G	KMT2A	NM_001197104.2(KMT2A):c.*297A>G	noncoding	Benign
11	118572348	G	C	G118572348C	ARCN1	Single_allele	noncoding	Benign
11	118581186	T	C	T118581186C	ARCN1	NM_001655.5(ARCN1):c.4-60T>C	noncoding	Benign
11	118581619	G	C	G118581619C	ARCN1	NM_001655.5(ARCN1):c.267+110G>C	noncoding	Benign
11	118583462	A	G	A118583462G	ARCN1	NM_001655.5(ARCN1):c.447+104A>G	noncoding	Benign
11	118583869	C	T	C118583869T	ARCN1	NM_001655.5(ARCN1):c.508C>T:p.Arg170Ter	coding	Pathogenic
11	118583914	G	T	G118583914T	ARCN1	NM_001655.5(ARCN1):c.553G>T:p.Gly185Ter	coding	Pathogenic
11	118590456	C	T	C118590456T	ARCN1	NM_001655.5(ARCN1):c.934C>T:p.Arg312Ter	coding	Pathogenic
11	118592506	T	A	T118592506A	ARCN1	NM_001655.5(ARCN1):c.985-203T>A	noncoding	Benign
11	118597722	G	A	G118597722A	ARCN1	NM_001655.5(ARCN1):c.1257G>A:p.Ala419=	coding	Benign
11	118597768	C	T	C118597768T	ARCN1	NM_001655.5(ARCN1):c.1303C>T:p.Arg435Ter	coding	Pathogenic
11	118600708	T	C	T118600708C	ARCN1	NM_001655.5(ARCN1):c.1530T>C:p.Ile510=	coding	Benign
11	118752035	G	A	G118752035A	DDX6	NM_004397.6(DDX6):c.*70C>T	noncoding	Benign
11	118752276	T	C	T118752276C	DDX6	NM_004397.6(DDX6):c.*8-179A>G	noncoding	Benign
11	118754900	C	T	C118754900T	DDX6	NM_004397.6(DDX6):c.1277-13G>A	noncoding	Benign
11	118779679	G	A	G118779679A	DDX6	NM_004397.6(DDX6):c.322C>T:p.Leu108_Met109=	coding	Benign
11	118786061	G	T	G118786061T	DDX6	NM_004397.6(DDX6):c.191C>A:p.Thr64Asn	coding	Benign
11	118883644	C	A	C118883644A	CXCR5	Single_allele	noncoding	Benign
11	119018306	G	A	G119018306A	TRAPPC4	NM_001028.3(RPS25):c.-22C>T	noncoding	Benign
11	119018318	G	A	G119018318A	TRAPPC4	NM_001028.3(RPS25):c.-34C>T	noncoding	Benign
11	119018363	G	T	G119018363T	TRAPPC4	Single_allele	noncoding	Benign
11	119018404	A	G	A119018404G	TRAPPC4	Single_allele	noncoding	Benign
11	119018422	A	G	A119018422G	TRAPPC4	Single_allele	noncoding	Benign
11	119018475	T	C	T119018475C	TRAPPC4	Single_allele	noncoding	Benign
11	119018668	G	A	G119018668A	TRAPPC4	Single_allele	noncoding	Benign
11	119019100	C	T	C119019100T	TRAPPC4	NM_016146.6(TRAPPC4):c.176-43C>T	noncoding	Benign
11	119019103	C	G	C119019103G	TRAPPC4	NM_016146.6(TRAPPC4):c.176-40C>G	noncoding	Benign
11	119019112	C	G	C119019112G	TRAPPC4	NM_016146.6(TRAPPC4):c.176-31C>G	noncoding	Benign
11	119019267	G	A	G119019267A	TRAPPC4	NM_016146.6(TRAPPC4):c.300G>A:p.Arg100=	coding	Benign
11	119019312	C	T	C119019312T	TRAPPC4	NM_016146.6(TRAPPC4):c.345C>T:p.Phe115=	coding	Benign
11	119019375	C	T	C119019375T	TRAPPC4	NM_016146.6(TRAPPC4):c.350+58C>T	noncoding	Benign
11	119019446	T	C	T119019446C	TRAPPC4	NM_016146.6(TRAPPC4):c.350+129T>C	noncoding	Benign
11	119020092	C	A	C119020092A	TRAPPC4	NM_016146.6(TRAPPC4):c.351-58C>A	noncoding	Benign
11	119020198	C	T	C119020198T	TRAPPC4	NM_016146.6(TRAPPC4):c.399C>T:p.Gly133=	coding	Benign
11	119020478	G	T	G119020478T	TRAPPC4	NM_016146.6(TRAPPC4):c.454+225G>T	noncoding	Benign
11	119021567	C	T	C119021567T	TRAPPC4	NM_016146.6(TRAPPC4):c.455-193C>T	noncoding	Benign
11	119023290	A	G	A119023290G	TRAPPC4	NM_016146.6(TRAPPC4):c.582-31A>G	noncoding	Benign
11	119023517	G	C	G119023517C	TRAPPC4	NM_016146.6(TRAPPC4):c.*118G>C	noncoding	Benign
11	119023577	A	G	A119023577G	TRAPPC4	NM_016146.6(TRAPPC4):c.*178A>G	noncoding	Benign
11	119024893	C	T	C119024893T	SLC37A4	NM_001164277.2(SLC37A4):c.*17G>A	noncoding	Benign
11	119024933	G	A	G119024933A	SLC37A4	NM_001164277.2(SLC37A4):c.1267C>T:p.Arg423Ter	coding	Pathogenic
11	119025022	C	T	C119025022T	SLC37A4	NM_001164277.2(SLC37A4):c.1178G>A:p.Trp393Ter	coding	Pathogenic
11	119025405	A	G	A119025405G	SLC37A4	NM_001164277.2(SLC37A4):c.986-76T>C	noncoding	Benign
11	119025406	A	C	A119025406C	SLC37A4	NM_001164277.2(SLC37A4):c.986-77T>G	noncoding	Benign
11	119025966	C	T	C119025966T	SLC37A4	NM_001164277.2(SLC37A4):c.985+1G>A	noncoding	Pathogenic
11	119026052	C	T	C119026052T	SLC37A4	NM_001164277.2(SLC37A4):c.899G>A:p.Arg300His	coding	Pathogenic/Likely_pathogenic
11	119026249	G	A	G119026249A	SLC37A4	NM_001164277.2(SLC37A4):c.872-169C>T	noncoding	Benign
11	119026552	C	T	C119026552T	SLC37A4	NM_001164277.2(SLC37A4):c.871+51G>A	noncoding	Benign
11	119026553	G	A	G119026553A	SLC37A4	NM_001164277.2(SLC37A4):c.871+50C>T	noncoding	Benign
11	119026602	C	A	C119026602A	SLC37A4	NM_001164277.2(SLC37A4):c.871+1G>T	noncoding	Pathogenic
11	119026762	A	G	A119026762G	SLC37A4	NM_001164277.2(SLC37A4):c.786-74T>C	noncoding	Benign
11	119027069	G	A	G119027069A	SLC37A4	NM_001164277.2(SLC37A4):c.652C>T:p.Gln218Ter	coding	Pathogenic/Likely_pathogenic
11	119027252	C	T	C119027252T	SLC37A4	NM_001164277.2(SLC37A4):c.627-157G>A	noncoding	Benign
11	119027526	C	T	C119027526T	SLC37A4	NM_001164277.2(SLC37A4):c.626+102G>A	noncoding	Benign
11	119027552	G	A	G119027552A	SLC37A4	NM_001164277.2(SLC37A4):c.626+76C>T	noncoding	Benign
11	119027612	C	T	C119027612T	SLC37A4	NM_001164277.2(SLC37A4):c.626+16G>A	noncoding	Benign
11	119027628	C	T	C119027628T	SLC37A4	NM_001164277.2(SLC37A4):c.625G>A:p.Gly209Ser	coding	Pathogenic
11	119027706	A	G	A119027706G	SLC37A4	NM_001164277.2(SLC37A4):c.547T>C:p.Cys183Arg	coding	Pathogenic
11	119027760	C	T	C119027760T	SLC37A4	NM_001164277.2(SLC37A4):c.494G>A:p.Trp165Ter	coding	Pathogenic
11	119027811	G	A	G119027811A	SLC37A4	NM_001164277.2(SLC37A4):c.443C>T:p.Ala148Val	coding	Pathogenic
11	119028235	G	A	G119028235A	SLC37A4	NM_001164277.2(SLC37A4):c.340C>T:p.Gln114Ter	coding	Pathogenic
11	119028508	C	T	C119028508T	SLC37A4	NM_001164277.2(SLC37A4):c.149-82G>A	noncoding	Benign
11	119029007	G	A	G119029007A	SLC37A4	NM_001164277.2(SLC37A4):c.148+215C>T	noncoding	Benign
11	119029048	C	T	C119029048T	SLC37A4	NM_001164277.2(SLC37A4):c.148+174G>A	noncoding	Benign
11	119029220	A	G	A119029220G	SLC37A4	NM_001164277.2(SLC37A4):c.148+2T>C	noncoding	Pathogenic/Likely_pathogenic
11	119029653	G	A	G119029653A	SLC37A4	NM_001164277.2(SLC37A4):c.-195-89C>T	noncoding	Benign
11	119029700	T	G	T119029700G	SLC37A4	NM_001164277.2(SLC37A4):c.-195-136A>C	noncoding	Benign
11	119030818	T	G	T119030818G	SLC37A4	NM_001164277.2(SLC37A4):c.-700+31A>C	noncoding	Benign
11	119030939	C	A	C119030939A	SLC37A4	Single_allele	noncoding	Benign
11	119045844	G	C	G119045844C	HYOU1	NM_006389.5(HYOU1):c.2888-13C>G	noncoding	Benign
11	119045845	A	G	A119045845G	HYOU1	NM_006389.5(HYOU1):c.2888-14T>C	noncoding	Benign
11	119047825	G	A	G119047825A	HYOU1	NM_006389.5(HYOU1):c.2511-7C>T	noncoding	Benign
11	119047937	G	A	G119047937A	HYOU1	NM_006389.5(HYOU1):c.2510+10C>T	noncoding	Benign
11	119048093	C	T	C119048093T	HYOU1	NM_006389.5(HYOU1):c.2377-13G>A	noncoding	Benign
11	119048269	C	T	C119048269T	HYOU1	NM_006389.5(HYOU1):c.2355G>A:p.Glu785=	coding	Benign
11	119048494	T	C	T119048494C	HYOU1	NM_006389.5(HYOU1):c.2235A>G:p.Ala745=	coding	Benign
11	119048850	C	T	C119048850T	HYOU1	NM_006389.5(HYOU1):c.2029G>A:p.Val677Ile	coding	Benign
11	119049741	T	C	T119049741C	HYOU1	NM_006389.5(HYOU1):c.1726+36A>G	noncoding	Benign
11	119049828	C	T	C119049828T	HYOU1	NM_006389.5(HYOU1):c.1675G>A:p.Val559Ile	coding	Benign
11	119051422	C	A	C119051422A	HYOU1	NM_006389.5(HYOU1):c.1526+16G>T	noncoding	Benign
11	119051488	G	A	G119051488A	HYOU1	NM_006389.5(HYOU1):c.1476C>T:p.Asn492=	coding	Benign
11	119051902	C	G	C119051902G	HYOU1	NM_006389.5(HYOU1):c.1255G>C:p.Ala419Pro	coding	Pathogenic
11	119052102	T	C	T119052102C	HYOU1	NM_006389.5(HYOU1):c.1193A>G:p.Lys398Arg	coding	Benign
11	119052715	C	T	C119052715T	HYOU1	NM_006389.5(HYOU1):c.909G>A:p.Pro303=	coding	Benign
11	119054101	C	A	C119054101A	HYOU1	NM_006389.5(HYOU1):c.794+20G>T	noncoding	Benign
11	119054224	A	G	A119054224G	HYOU1	NM_006389.5(HYOU1):c.691T>C:p.Tyr231His	coding	Pathogenic
11	119054629	G	A	G119054629A	HYOU1	NM_006389.5(HYOU1):c.543C>T:p.Asn181=	coding	Benign
11	119055071	G	A	G119055071A	HYOU1	NM_006389.5(HYOU1):c.420-11C>T	noncoding	Benign
11	119055223	G	A	G119055223A	HYOU1	NM_006389.5(HYOU1):c.381C>T:p.Phe127=	coding	Benign
11	119055241	C	T	C119055241T	HYOU1	NM_006389.5(HYOU1):c.363G>A:p.Pro121=	coding	Benign
11	119055310	A	C	A119055310C	HYOU1	NM_006389.5(HYOU1):c.294T>G:p.Arg98=	coding	Benign
11	119055316	C	G	C119055316G	HYOU1	NM_006389.5(HYOU1):c.288G>C:p.Thr96=	coding	Benign
11	119067959	C	T	C119067959T	VPS11	NM_021729.6(VPS11):c.136C>T:p.Pro46Ser	coding	Pathogenic
11	119068169	A	G	A119068169G	VPS11	NM_021729.6(VPS11):c.187+159A>G	coding	Benign
11	119070219	C	T	C119070219T	VPS11	NM_021729.6(VPS11):c.473-15C>T	noncoding	Benign
11	119070247	C	G	C119070247G	VPS11	NM_021729.6(VPS11):c.486C>G:p.Gly162=	coding	Benign
11	119071585	G	A	G119071585A	VPS11	NM_021729.6(VPS11):c.637-11G>A	noncoding	Benign
11	119071634	G	A	G119071634A	VPS11	NM_021729.6(VPS11):c.675G>A:p.Glu225=	coding	Benign
11	119073965	C	T	C119073965T	VPS11	NM_021729.6(VPS11):c.1238+14C>T	noncoding	Benign
11	119076881	G	A	G119076881A	VPS11	NM_021729.6(VPS11):c.1239-16G>A	noncoding	Benign
11	119076924	C	T	C119076924T	VPS11	NM_021729.6(VPS11):c.1266C>T:p.Tyr422=	coding	Benign
11	119078567	C	G	C119078567G	VPS11	NM_021729.6(VPS11):c.1926C>G:p.Val642=	coding	Benign
11	119078618	C	T	C119078618T	VPS11	NM_021729.6(VPS11):c.1977C>T:p.Phe659=	coding	Benign
11	119078621	C	T	C119078621T	VPS11	NM_021729.6(VPS11):c.1980C>T:p.Cys660=	coding	Benign
11	119079170	G	A	G119079170A	VPS11	NM_021729.6(VPS11):c.2308G>A:p.Val770Ile	coding	Benign
11	119081189	T	G	T119081189G	VPS11	NM_021729.6(VPS11):c.2536T>G:p.Cys846Gly	coding	Pathogenic/Likely_pathogenic
11	119081443	T	G	T119081443G	VPS11	NM_021729.6(VPS11):c.2662-16T>G	noncoding	Benign
11	119081463	A	G	A119081463G	VPS11	NM_021729.6(VPS11):c.2666A>G:p.Lys889Arg	coding	Benign
11	119081588	C	T	C119081588T	VPS11	NM_021729.6(VPS11):c.2791C>T:p.Arg931Cys	coding	Benign
11	119081661	A	G	A119081661G	VPS11	NM_021729.6(VPS11):c.*38A>G	noncoding	Benign
11	119085086	C	G	C119085086G	HMBS	NM_000190.4(HMBS):c.33+20C>G	coding	Benign
11	119088159	G	T	G119088159T	HMBS	NM_000190.4(HMBS):c.34-96G>T	noncoding	Benign
11	119088287	C	T	C119088287T	HMBS	NM_000190.4(HMBS):c.66C>T:p.Arg22=	coding	Benign
11	119088309	G	A	G119088309A	HMBS	NM_000190.4(HMBS):c.87+1G>A	coding	Pathogenic
11	119088310	T	G	T119088310G	HMBS	NM_000190.4(HMBS):c.87+2T>G	noncoding	Pathogenic
11	119088570	T	C	T119088570C	HMBS	NM_000190.4(HMBS):c.88-65T>C	noncoding	Benign
11	119088695	C	T	C119088695T	HMBS	NM_000190.4(HMBS):c.148C>T:p.Gln50Ter	coding	Pathogenic
11	119088708	G	T	G119088708T	HMBS	NM_000190.4(HMBS):c.160+1G>T	coding	Pathogenic
11	119089022	C	T	C119089022T	HMBS	NM_000190.4(HMBS):c.161-60C>T	noncoding	Benign
11	119089132	G	C	G119089132C	HMBS	NM_000190.4(HMBS):c.210+1G>C	coding	Pathogenic
11	119089202	C	T	C119089202T	HMBS	NM_000190.4(HMBS):c.211-15C>T	noncoding	Benign
11	119089666	C	T	C119089666T	HMBS	NM_000190.4(HMBS):c.267-17C>T	noncoding	Benign
11	119090189	G	A	G119090189A	HMBS	NM_000190.4(HMBS):c.423-1G>A	noncoding	Pathogenic
11	119090266	G	A	G119090266A	HMBS	NM_000190.4(HMBS):c.498+1G>A	coding	Pathogenic
11	119090364	T	C	T119090364C	HMBS	NM_000190.4(HMBS):c.498+99T>C	noncoding	Benign
11	119090521	T	C	T119090521C	HMBS	NM_000190.4(HMBS):c.498+256T>C	noncoding	Benign
11	119091452	C	T	C119091452T	HMBS	NM_000190.4(HMBS):c.538C>T:p.Gln180Ter	coding	Pathogenic
11	119092094	A	G	A119092094G	HMBS	NM_000190.4(HMBS):c.613-31A>G	noncoding	Benign
11	119092403	G	C	G119092403C	HMBS	NM_000190.4(HMBS):c.652-1G>C	noncoding	Pathogenic
11	119092465	T	C	T119092465C	HMBS	NM_000190.4(HMBS):c.713T>C:p.Leu238Pro	coding	Pathogenic
11	119092475	C	T	C119092475T	HMBS	NM_000190.4(HMBS):c.723C>T:p.Pro241=	coding	Benign/Likely_benign
11	119092812	G	A	G119092812A	HMBS	NM_000190.4(HMBS):c.825+1G>A	coding	Pathogenic
11	119092933	A	T	A119092933T	HMBS	NM_000190.4(HMBS):c.826-2A>T	noncoding	Pathogenic
11	119092934	G	A	G119092934A	HMBS	NM_000190.4(HMBS):c.826-1G>A	noncoding	Pathogenic
11	119092948	G	A	G119092948A	HMBS	NM_000190.4(HMBS):c.839G>A:p.Gly280Glu	coding	Pathogenic
11	119093022	G	C	G119093022C	HMBS	NM_000190.4(HMBS):c.912+1G>C	coding	Pathogenic
11	119093023	T	C	T119093023C	HMBS	NM_000190.4(HMBS):c.912+2T>C	noncoding	Pathogenic
11	119093040	G	A	G119093040A	HMBS	NM_000190.4(HMBS):c.912+19G>A	noncoding	Benign
11	119093137	C	T	C119093137T	HMBS	NM_000190.4(HMBS):c.940C>T:p.Gln314Ter	coding	Pathogenic
11	119093170	C	T	C119093170T	HMBS	NM_000190.4(HMBS):c.973C>T:p.Arg325Ter	coding	Pathogenic
11	119095811	C	T	C119095811T	H2AX	Single_allele	noncoding	Benign
11	119097126	C	T	C119097126T	DPAGT1	NM_001382.4(DPAGT1):c.1161+16G>A	noncoding	Benign/Likely_benign
11	119099972	C	T	C119099972T	DPAGT1	NM_001382.4(DPAGT1):c.643+290G>A	noncoding	Benign
11	119100165	T	C	T119100165C	DPAGT1	NM_001382.4(DPAGT1):c.643+97A>G	noncoding	Benign
11	119100168	A	C	A119100168C	DPAGT1	NM_001382.4(DPAGT1):c.643+94T>G	noncoding	Benign
11	119100251	A	T	A119100251T	DPAGT1	NM_001382.4(DPAGT1):c.643+11T>A	noncoding	Benign/Likely_benign
11	119100541	A	G	A119100541G	DPAGT1	NM_001382.4(DPAGT1):c.496+89T>C	noncoding	Benign
11	119101650	C	T	C119101650T	DPAGT1	NM_001382.4(DPAGT1):c.6G>A:p.Trp2Ter	coding	Pathogenic
11	119206392	G	C	G119206392C	CBL	NM_005188.4(CBL):c.-26G>C	noncoding	Benign
11	119206624	G	T	G119206624T	CBL	NM_005188.4(CBL):c.195+12G>T	noncoding	Benign
11	119206625	C	T	C119206625T	CBL	NM_005188.4(CBL):c.195+13C>T	noncoding	Benign
11	119206688	G	C	G119206688C	CBL	NM_005188.4(CBL):c.195+76G>C	noncoding	Benign
11	119272103	C	G	C119272103G	CBL	NM_005188.4(CBL):c.590+222C>G	noncoding	Benign
11	119275949	G	C	G119275949C	CBL	NM_005188.4(CBL):c.870-48G>C	noncoding	Benign
11	119278236	A	C	A119278236C	CBL	NM_005188.4(CBL):c.1166A>C:p.Lys389Thr	coding	Pathogenic/Likely_pathogenic
11	119278323	T	C	T119278323C	CBL	NM_005188.4(CBL):c.1227+26T>C	noncoding	Benign
11	119284908	G	T	G119284908T	CBL	NM_005188.4(CBL):c.1432-61G>T	noncoding	Benign
11	119284939	G	C	G119284939C	CBL	NM_005188.4(CBL):c.1432-30G>C	noncoding	Benign
11	119284963	C	T	C119284963T	CBL	NM_005188.4(CBL):c.1432-6C>T	noncoding	Benign/Likely_benign
11	119284996	A	G	A119284996G	CBL	NM_005188.4(CBL):c.1459A>G:p.Met487Val	coding	Benign/Likely_benign
11	119285268	C	T	C119285268T	CBL	NM_005188.4(CBL):c.1643C>T:p.Pro548Leu	coding	Benign
11	119285402	C	T	C119285402T	CBL	NM_005188.4(CBL):c.1777C>T:p.Arg593Trp	coding	Benign
11	119297521	T	G	T119297521G	CBL	NM_005188.4(CBL):c.2251+40T>G	noncoding	Benign
11	119297742	G	A	G119297742A	CBL	NM_005188.4(CBL):c.2251+261G>A	noncoding	Benign
11	119339501	G	T	G119339501T	C1QTNF5	NM_001278431.2(C1QTNF5):c.562C>A:p.Pro188Thr	coding	Pathogenic
11	119340362	C	T	C119340362T	C1QTNF5	NM_001278431.2(C1QTNF5):c.36G>A:p.Leu12=	coding	Benign
11	119341673	G	A	G119341673A	MFRP	NM_031433.4(MFRP):c.1615C>T:p.Arg539Cys	coding	Pathogenic
11	119341964	G	A	G119341964A	MFRP	NM_031433.4(MFRP):c.1408C>T:p.Gln470Ter	coding	Pathogenic
11	119343582	G	A	G119343582A	MFRP	NM_031433.4(MFRP):c.1124+234C>T	noncoding	Benign
11	119343682	G	A	G119343682A	MFRP	NM_031433.4(MFRP):c.1124+134C>T	noncoding	Benign
11	119344061	A	G	A119344061G	MFRP	NM_031433.4(MFRP):c.976-97T>C	noncoding	Benign
11	119344088	T	C	T119344088C	MFRP	NM_031433.4(MFRP):c.976-124A>G	noncoding	Benign
11	119344297	A	G	A119344297G	MFRP	NM_031433.4(MFRP):c.975+18T>C	noncoding	Benign
11	119344336	C	T	C119344336T	MFRP;C1QTNF5	NM_031433.4(MFRP):c.954G>A:p.Leu318_Gln319=	coding	Benign/Likely_benign
11	119344455	C	T	C119344455T	MFRP	NM_031433.4(MFRP):c.899-64G>A	noncoding	Benign
11	119344543	G	C	G119344543C	MFRP	NM_031433.4(MFRP):c.898+89C>G	noncoding	Benign
11	119344546	C	T	C119344546T	MFRP	NM_031433.4(MFRP):c.898+86G>A	noncoding	Benign
11	119344675	A	T	A119344675T	MFRP	NM_031433.4(MFRP):c.855T>A:p.Cys285Ter	coding	Pathogenic/Likely_pathogenic
11	119345191	C	T	C119345191T	MFRP	NM_031433.4(MFRP):c.642-187G>A	noncoding	Benign
11	119345281	G	A	G119345281A	MFRP	NM_031433.4(MFRP):c.641+139C>T	noncoding	Benign
11	119345910	G	A	G119345910A	MFRP	NM_031433.4(MFRP):c.290C>T:p.Pro97Leu	coding	Benign
11	119346148	G	A	G119346148A	MFRP	NM_031433.4(MFRP):c.169C>T:p.Arg57Ter	coding	Pathogenic/Likely_pathogenic
11	119346265	T	C	T119346265C	MFRP	NM_031433.4(MFRP):c.157+7A>G	noncoding	Benign
11	119346327	G	T	G119346327T	MFRP	NM_031433.4(MFRP):c.102C>A:p.Cys34Ter	coding	Pathogenic
11	119346601	G	A	G119346601A	C1QTNF5;MFRP	NM_031433.4(MFRP):c.-88C>T	noncoding	Benign/Likely_benign
11	119346745	C	T	C119346745T	MFRP	Single_allele	noncoding	Benign
11	119346846	G	A	G119346846A	MFRP	Single_allele	noncoding	Benign
11	119346870	C	T	C119346870T	MFRP	Single_allele	noncoding	Benign
11	119346923	C	T	C119346923T	MFRP	Single_allele	noncoding	Benign
11	120792654	T	C	T120792654C	GRIK4	NM_014619.5(GRIK4):c.83-10039T>C	noncoding	Benign
11	120956900	A	G	A120956900G	GRIK4	NM_014619.5(GRIK4):c.1821A>G:p.Gln607=	coding	Benign
11	121102355	A	C	A121102355C	TECTA	NM_005422.4(TECTA):c.-1-310A>C	noncoding	Benign
11	121102587	A	C	A121102587C	TECTA	NM_005422.4(TECTA):c.-1-78A>C	noncoding	Benign
11	121102807	C	T	C121102807T	TECTA	NM_005422.4(TECTA):c.64+78C>T	noncoding	Benign
11	121105602	A	C	A121105602C	TECTA	NM_005422.4(TECTA):c.65-229A>C	noncoding	Benign
11	121105704	G	A	G121105704A	TECTA	NM_005422.4(TECTA):c.65-127G>A	noncoding	Benign
11	121105719	A	G	A121105719G	TECTA	NM_005422.4(TECTA):c.65-112A>G	noncoding	Benign
11	121113378	C	G	C121113378G	TECTA	NM_005422.4(TECTA):c.624+169C>G	noncoding	Benign
11	121113972	C	T	C121113972T	TECTA	NM_005422.4(TECTA):c.790+254C>T	noncoding	Benign
11	121118083	C	T	C121118083T	TECTA	NM_005422.4(TECTA):c.791-223C>T	noncoding	Benign
11	121118976	C	A	C121118976A	TECTA	NM_005422.4(TECTA):c.1203+258C>A	noncoding	Benign
11	121119010	C	A	C121119010A	TECTA	NM_005422.4(TECTA):c.1203+292C>A	noncoding	Benign
11	121125133	C	T	C121125133T	TECTA	NM_005422.4(TECTA):c.1204-169C>T	noncoding	Benign
11	121125803	C	T	C121125803T	TECTA	NM_005422.4(TECTA):c.1705C>T:p.Gln569Ter	coding	Pathogenic
11	121127516	A	G	A121127516G	TECTA	NM_005422.4(TECTA):c.1775-236A>G	noncoding	Benign
11	121128549	A	G	A121128549G	TECTA	NM_005422.4(TECTA):c.2367+205A>G	noncoding	Benign
11	121129503	T	G	T121129503G	TECTA	NM_005422.4(TECTA):c.2368-135T>G	noncoding	Benign
11	121130210	C	A	C121130210A	TECTA	NM_005422.4(TECTA):c.2940C>A:p.Cys980Ter	coding	Pathogenic
11	121130330	T	C	T121130330C	TECTA	NM_005422.4(TECTA):c.2941+119T>C	noncoding	Benign
11	121137239	C	T	C121137239T	TECTA	NM_005422.4(TECTA):c.2942-182C>T	noncoding	Benign
11	121137248	G	A	G121137248A	TECTA	NM_005422.4(TECTA):c.2942-173G>A	noncoding	Benign
11	121145259	T	C	T121145259C	TECTA	NM_005422.4(TECTA):c.3544-296T>C	noncoding	Benign
11	121145389	T	C	T121145389C	TECTA	NM_005422.4(TECTA):c.3544-166T>C	noncoding	Benign
11	121145436	G	A	G121145436A	TECTA	NM_005422.4(TECTA):c.3544-119G>A	noncoding	Benign
11	121153197	G	A	G121153197A	TECTA	NM_005422.4(TECTA):c.4305+117G>A	noncoding	Benign
11	121153283	A	G	A121153283G	TECTA	NM_005422.4(TECTA):c.4305+203A>G	noncoding	Benign
11	121161808	G	A	G121161808A	TECTA	NM_005422.4(TECTA):c.4977-267G>A	noncoding	Benign
11	121161946	A	G	A121161946G	TECTA	NM_005422.4(TECTA):c.4977-129A>G	noncoding	Benign
11	121162396	A	G	A121162396G	TECTA	NM_005422.4(TECTA):c.5272+26A>G	noncoding	Benign
11	121162568	C	T	C121162568T	TECTA	NM_005422.4(TECTA):c.5272+198C>T	noncoding	Benign
11	121162665	A	G	A121162665G	TECTA	NM_005422.4(TECTA):c.5272+295A>G	noncoding	Benign
11	121165151	G	T	G121165151T	TECTA	NM_005422.4(TECTA):c.5273-122G>T	noncoding	Benign
11	121165596	G	T	G121165596T	TECTA	NM_005422.4(TECTA):c.5383+213G>T	noncoding	Benign
11	121165606	G	A	G121165606A	TECTA	NM_005422.4(TECTA):c.5383+223G>A	noncoding	Benign
11	121166820	C	G	C121166820G	TECTA	NM_005422.4(TECTA):c.5586+40C>G	noncoding	Benign
11	121166961	G	A	G121166961A	TECTA	NM_005422.4(TECTA):c.5586+181G>A	noncoding	Benign
11	121167761	G	C	G121167761C	TECTA	NM_005422.4(TECTA):c.5587-293G>C	noncoding	Benign
11	121168026	C	T	C121168026T	TECTA	NM_005422.4(TECTA):c.5587-28C>T	noncoding	Benign
11	121168135	C	T	C121168135T	TECTA	NM_005422.4(TECTA):c.5668C>T:p.Arg1890Cys	coding	Pathogenic/Likely_pathogenic
11	121168360	A	G	A121168360G	TECTA	NM_005422.4(TECTA):c.5750+143A>G	noncoding	Benign
11	121168525	T	C	T121168525C	TECTA	NM_005422.4(TECTA):c.5751-152T>C	noncoding	Benign
11	121169002	A	G	A121169002G	TECTA	NM_005422.4(TECTA):c.5999+77A>G	noncoding	Benign
11	121169238	A	T	A121169238T	TECTA	NM_005422.4(TECTA):c.5999+313A>T	noncoding	Benign
11	121187534	G	A	G121187534A	TECTA	NM_005422.4(TECTA):c.6000-298G>A	noncoding	Benign
11	121187814	A	G	A121187814G	TECTA	NM_005422.4(TECTA):c.6000-18A>G	noncoding	Benign
11	121187935	G	T	G121187935T	TECTA	NM_005422.4(TECTA):c.6103G>T:p.Glu2035Ter	coding	Pathogenic
11	121188236	A	G	A121188236G	TECTA	NM_005422.4(TECTA):c.6162+242A>G	noncoding	Benign
11	121188245	G	A	G121188245A	TECTA	NM_005422.4(TECTA):c.6162+251G>A	noncoding	Benign
11	121189564	C	T	C121189564T	TECTA	NM_005422.4(TECTA):c.6251-200C>T	noncoding	Benign
11	121190071	C	A	C121190071A	TECTA	NM_005422.4(TECTA):c.6367+191C>A	noncoding	Benign
11	121190074	C	A	C121190074A	TECTA	NM_005422.4(TECTA):c.6367+194C>A	noncoding	Benign
11	121190740	G	T	G121190740T	TECTA	NM_005422.4(TECTA):c.6402G>T:p.Thr2134=	coding	Benign/Likely_benign
11	121303604	T	A	T121303604A	SC5D	NM_006918.5(SC5D):c.210+19T>A	noncoding	Benign
11	121304347	A	G	A121304347G	SC5D	NM_006918.5(SC5D):c.211-14A>G	noncoding	Benign
11	121304510	A	C	A121304510C	SC5D	NM_006918.5(SC5D):c.343+17A>C	noncoding	Benign
11	121307038	G	T	G121307038T	SC5D	NM_006918.5(SC5D):c.445-19G>T	noncoding	Benign
11	121452568	G	A	G121452568A	SORL1	NM_003105.6(SORL1):c.237G>A:p.Arg79=	coding	Benign
11	121465206	T	G	T121465206G	SORL1	NM_003105.6(SORL1):c.286-4801T>G	noncoding	Benign
11	121478261	C	T	C121478261T	SORL1	NM_003105.6(SORL1):c.528+18C>T	noncoding	Benign
11	121488024	C	T	C121488024T	SORL1	NM_003105.6(SORL1):c.529-8C>T	noncoding	Benign
11	121496917	T	C	T121496917C	SORL1	NM_003105.6(SORL1):c.807T>C:p.His269=	coding	Benign
11	121496918	G	A	G121496918A	SORL1	NM_003105.6(SORL1):c.808G>A:p.Glu270Lys	coding	Benign
11	121522896	T	C	T121522896C	SORL1	NM_003105.6(SORL1):c.1523-20T>C	noncoding	Benign
11	121522975	G	A	G121522975A	SORL1	NM_003105.6(SORL1):c.1582G>A:p.Ala528Thr	coding	Benign
11	121543611	G	A	G121543611A	SORL1	NM_003105.6(SORL1):c.1749G>A:p.Val583=	coding	Benign
11	121550604	G	A	G121550604A	SORL1	NM_003105.6(SORL1):c.2200G>A:p.Asp734Asn	coding	Benign
11	121555172	C	T	C121555172T	SORL1	NM_003105.6(SORL1):c.2440-15C>T	noncoding	Benign
11	121555246	A	T	A121555246T	SORL1	NM_003105.6(SORL1):c.2499A>T:p.Thr833=	coding	Benign
11	121555333	G	A	G121555333A	SORL1	NM_003105.6(SORL1):c.2571+15G>A	noncoding	Benign
11	121558586	G	A	G121558586A	SORL1	NM_003105.6(SORL1):c.2664-5G>A	noncoding	Benign
11	121558767	C	T	C121558767T	SORL1	NM_003105.6(SORL1):c.2840C>T:p.Thr947Met	coding	Benign
11	121558853	G	A	G121558853A	SORL1	NM_003105.6(SORL1):c.2910+16G>A	noncoding	Benign
11	121567110	C	G	C121567110G	SORL1	NM_003105.6(SORL1):c.3220C>G:p.Gln1074Glu	coding	Benign
11	121574249	A	G	A121574249G	SORL1	NM_003105.6(SORL1):c.3346A>G:p.Ile1116Val	coding	Benign
11	121574375	T	C	T121574375C	SORL1	NM_003105.6(SORL1):c.3460+12T>C	noncoding	Benign
11	121577381	T	G	T121577381G	SORL1	NM_003105.6(SORL1):c.3561T>G:p.Ser1187=	coding	Benign
11	121583440	C	G	C121583440G	SORL1	NM_003105.6(SORL1):c.3581-18C>G	noncoding	Benign
11	121583497	G	A	G121583497A	SORL1	NM_003105.6(SORL1):c.3620G>A:p.Arg1207Gln	coding	Benign
11	121586227	A	T	A121586227T	SORL1	NM_003105.6(SORL1):c.3712A>T:p.Lys1238Ter	coding	Pathogenic
11	121586253	C	T	C121586253T	SORL1	NM_003105.6(SORL1):c.3738C>T:p.Asn1246=	coding	Benign
11	121586339	T	G	T121586339G	SORL1	NM_003105.6(SORL1):c.3814+10T>G	noncoding	Benign
11	121589386	C	T	C121589386T	SORL1	NM_003105.6(SORL1):c.4074C>T:p.Asn1358=	coding	Benign
11	121590137	C	T	C121590137T	SORL1	NM_003105.6(SORL1):c.4176C>T:p.Asn1392=	coding	Benign
11	121595610	T	C	T121595610C	SORL1	NM_003105.6(SORL1):c.4370-13T>C	noncoding	Benign
11	121595786	G	C	G121595786C	SORL1	NM_003105.6(SORL1):c.4519+14G>C	noncoding	Benign
11	121605213	T	A	T121605213A	SORL1	NM_003105.6(SORL1):c.4752T>A:p.Ala1584=	coding	Benign
11	121611131	C	T	C121611131T	SORL1	NM_003105.6(SORL1):c.5295C>T:p.Phe1765=	coding	Benign
11	121612844	G	T	G121612844T	SORL1	NM_003105.6(SORL1):c.5419+12G>T	noncoding	Benign
11	121618854	G	A	G121618854A	SORL1	NM_003105.6(SORL1):c.5685G>A:p.Lys1895=	coding	Benign
11	121618909	C	T	C121618909T	SORL1	NM_003105.6(SORL1):c.5724+16C>T	noncoding	Benign
11	121621073	G	A	G121621073A	SORL1	NM_003105.6(SORL1):c.5899G>A:p.Val1967Ile	coding	Benign
11	121625068	C	T	C121625068T	SORL1	NM_003105.6(SORL1):c.6172-17C>T	noncoding	Benign
11	121627721	C	T	C121627721T	SORL1	NM_003105.6(SORL1):c.6531C>T:p.Tyr2177=	coding	Benign
11	123083815	C	A	C123083815A	CLMP	NM_024769.5(CLMP):c.421G>T:p.Gly141Ter	coding	Pathogenic
11	123633290	C	T	C123633290T	SCN3B	NM_001040151.2(SCN3B):c.*509G>A	noncoding	Benign
11	123633646	G	A	G123633646A	SCN3B	NM_001040151.2(SCN3B):c.*153C>T	noncoding	Benign
11	123633773	C	T	C123633773T	SCN3B	NM_001040151.2(SCN3B):c.*26G>A	noncoding	Benign
11	123642249	A	G	A123642249G	SCN3B	NM_001040151.2(SCN3B):c.445+197T>C	noncoding	Benign
11	123653587	T	A	T123653587A	SCN3B	NM_001040151.2(SCN3B):c.55+160A>T	noncoding	Benign
11	123653703	G	A	G123653703A	SCN3B	NM_001040151.2(SCN3B):c.55+44C>T	noncoding	Benign
11	123653787	A	G	A123653787G	SCN3B	NM_001040151.2(SCN3B):c.15T>C:p.Asn5=	coding	Benign/Likely_benign
11	123653980	G	A	G123653980A	SCN3B	NM_001040151.2(SCN3B):c.-25-154C>T	noncoding	Benign
11	123653982	T	C	T123653982C	SCN3B	NM_001040151.2(SCN3B):c.-25-156A>G	noncoding	Benign
11	123654035	C	T	C123654035T	SCN3B	NM_001040151.2(SCN3B):c.-26+191G>A	noncoding	Benign
11	123654140	G	C	G123654140C	SCN3B	NM_001040151.2(SCN3B):c.-26+86C>G	noncoding	Benign
11	123654232	C	T	C123654232T	SCN3B	NM_001040151.2(SCN3B):c.-32G>A	noncoding	Benign
11	123654493	C	G	C123654493G	SCN3B	NM_001040151.2(SCN3B):c.-293G>C	noncoding	Benign
11	123654564	C	T	C123654564T	SCN3B	NM_001040151.2(SCN3B):c.-364G>A	noncoding	Benign
11	124617442	C	T	C124617442T	PANX3	NM_052959.3(PANX3):c.493C>T:p.Arg165Trp	coding	Benign
11	124637041	T	C	T124637041C	SIAE	NM_170601.5(SIAE):c.1482A>G:p.Leu494=	coding	Benign
11	124637071	C	T	C124637071T	SIAE	NM_170601.5(SIAE):c.1452G>A:p.Thr484=	coding	Benign
11	124637107	A	T	A124637107T	SIAE	NM_170601.5(SIAE):c.1416T>A:p.His472Gln	coding	Benign
11	124638606	C	T	C124638606T	SIAE	NM_170601.5(SIAE):c.1256G>A:p.Gly419Glu	coding	Benign
11	124639793	G	A	G124639793A	SIAE	NM_170601.5(SIAE):c.1041C>T:p.Phe347=	coding	Benign
11	124647445	G	A	G124647445A	SIAE	NM_170601.5(SIAE):c.886C>T:p.Leu296Phe	coding	Benign
11	124647452	G	A	G124647452A	SIAE	NM_170601.5(SIAE):c.879C>T:p.Phe293=	coding	Benign
11	124647474	G	A	G124647474A	SIAE	NM_170601.5(SIAE):c.857C>T:p.Thr286Met	coding	Benign
11	124648162	C	T	C124648162T	SIAE	NM_170601.5(SIAE):c.736G>A:p.Asp246Asn	coding	Benign
11	124649708	G	A	G124649708A	SIAE	NM_170601.5(SIAE):c.633C>T:p.Ile211=	coding	Benign
11	124649768	G	A	G124649768A	SIAE	NM_170601.5(SIAE):c.573C>T:p.Tyr191=	coding	Benign
11	124654637	G	A	G124654637A	SIAE	NM_170601.5(SIAE):c.544+18C>T	noncoding	Benign
11	124654731	A	G	A124654731G	SIAE	NM_170601.5(SIAE):c.468T>C:p.Ser156=	coding	Benign
11	124654812	C	G	C124654812G	SIAE	NM_170601.5(SIAE):c.406-19G>C	noncoding	Benign
11	124660768	T	C	T124660768C	SIAE	NM_170601.5(SIAE):c.265A>G:p.Met89Val	coding	Benign
11	124669340	C	T	C124669340T	SIAE	NM_170601.5(SIAE):c.229+20G>A	noncoding	Benign
11	124669341	G	A	G124669341A	SIAE	NM_170601.5(SIAE):c.229+19C>T	noncoding	Benign
11	124669377	T	C	T124669377C	SIAE	NM_170601.5(SIAE):c.212A>G:p.Lys71Arg	coding	Benign
11	124870092	T	C	T124870092C	ROBO3	NM_022370.4(ROBO3):c.766+24T>C	noncoding	Benign
11	124872835	C	T	C124872835T	ROBO3	NM_022370.4(ROBO3):c.1331-49C>T	noncoding	Benign
11	124887804	C	T	C124887804T	ROBO4	NM_019055.6(ROBO4):c.1985G>A:p.Gly662Asp	coding	Benign/Likely_benign
11	124896525	G	A	G124896525A	ROBO4	NM_019055.6(ROBO4):c.546C>T:p.Pro182=	coding	Benign/Likely_benign
11	124897171	T	C	T124897171C	ROBO4	NM_019055.6(ROBO4):c.161A>G:p.Gln54Arg	coding	Benign
11	124922644	C	A	C124922644A	HEPACAM	NM_152722.5(HEPACAM):c.877+101G>T	noncoding	Benign
11	124922838	C	T	C124922838T	HEPACAM	NM_152722.5(HEPACAM):c.804-20G>A	noncoding	Benign/Likely_benign
11	124923354	C	T	C124923354T	HEPACAM	NM_152722.5(HEPACAM):c.789G>A:p.Trp263Ter	coding	Pathogenic
11	124923915	T	A	T124923915A	HEPACAM	NM_152722.5(HEPACAM):c.523A>T:p.Lys175Ter	coding	Pathogenic
11	124924857	G	A	G124924857A	HEPACAM	NM_152722.5(HEPACAM):c.298C>T:p.Arg100Ter	coding	Pathogenic
11	124925258	G	T	G124925258T	HEPACAM	NM_152722.5(HEPACAM):c.86-189C>A	noncoding	Benign
11	124925262	T	G	T124925262G	HEPACAM	NM_152722.5(HEPACAM):c.86-193A>C	noncoding	Benign
11	124935723	T	C	T124935723C	HEPACAM	NM_152722.5(HEPACAM):c.85+199A>G	noncoding	Benign
11	124936088	A	G	A124936088G	HEPACAM	NM_152722.4(HEPACAM):c.-82T>C	noncoding	Benign/Likely_benign
11	124936564	G	A	G124936564A	HEPACAM	Single_allele	noncoding	Benign
11	125592730	G	T	G125592730T	STT3A	Single_allele	noncoding	Benign
11	125592740	C	T	C125592740T	STT3A	Single_allele	noncoding	Benign
11	125592747	G	A	G125592747A	STT3A	Single_allele	noncoding	Benign
11	125595690	C	T	C125595690T	STT3A	NM_152713.5(STT3A):c.-35-191C>T	noncoding	Benign
11	125595757	C	T	C125595757T	STT3A	NM_152713.5(STT3A):c.-35-124C>T	noncoding	Benign
11	125596106	A	G	A125596106G	STT3A	NM_152713.5(STT3A):c.88+103A>G	noncoding	Benign
11	125596115	T	G	T125596115G	STT3A	NM_152713.5(STT3A):c.88+112T>G	noncoding	Benign
11	125596781	G	T	G125596781T	STT3A	NM_152713.5(STT3A):c.89-278G>T	noncoding	Benign
11	125597139	C	T	C125597139T	STT3A	NM_152713.5(STT3A):c.149+20C>T	noncoding	Benign/Likely_benign
11	125597249	C	A	C125597249A	STT3A	NM_152713.5(STT3A):c.149+130C>A	noncoding	Benign
11	125602147	G	C	G125602147C	STT3A	NM_152713.5(STT3A):c.150-156G>C	noncoding	Benign
11	125602166	T	C	T125602166C	STT3A	NM_152713.5(STT3A):c.150-137T>C	noncoding	Benign
11	125602547	C	T	C125602547T	STT3A	NM_152713.5(STT3A):c.271+123C>T	noncoding	Benign
11	125602648	G	A	G125602648A	STT3A	NM_152713.5(STT3A):c.272-155G>A	noncoding	Benign
11	125602721	T	C	T125602721C	STT3A	NM_152713.5(STT3A):c.272-82T>C	noncoding	Benign
11	125603869	A	G	A125603869G	STT3A	NM_152713.5(STT3A):c.418-288A>G	noncoding	Benign
11	125604101	G	A	G125604101A	STT3A	NM_152713.5(STT3A):c.418-56G>A	noncoding	Benign
11	125604411	T	C	T125604411C	STT3A	NM_152713.5(STT3A):c.508+164T>C	noncoding	Benign
11	125604437	T	C	T125604437C	STT3A	NM_152713.5(STT3A):c.508+190T>C	noncoding	Benign
11	125604453	T	C	T125604453C	STT3A	NM_152713.5(STT3A):c.508+206T>C	noncoding	Benign
11	125605449	T	A	T125605449A	STT3A	NM_152713.5(STT3A):c.509-180T>A	noncoding	Benign
11	125605545	C	G	C125605545G	STT3A	NM_152713.5(STT3A):c.509-84C>G	noncoding	Benign
11	125605548	G	A	G125605548A	STT3A	NM_152713.5(STT3A):c.509-81G>A	noncoding	Benign
11	125605614	G	T	G125605614T	STT3A	NM_152713.5(STT3A):c.509-15G>T	noncoding	Benign/Likely_benign
11	125606216	G	A	G125606216A	STT3A	NM_152713.5(STT3A):c.616-85G>A	noncoding	Benign
11	125606648	A	C	A125606648C	STT3A	NM_152713.5(STT3A):c.780+183A>C	noncoding	Benign
11	125606674	C	T	C125606674T	STT3A	NM_152713.5(STT3A):c.780+209C>T	noncoding	Benign
11	125606751	G	A	G125606751A	STT3A	NM_152713.5(STT3A):c.780+286G>A	noncoding	Benign
11	125607992	G	A	G125607992A	STT3A	NM_152713.5(STT3A):c.781-117G>A	noncoding	Benign
11	125608314	C	T	C125608314T	STT3A	NM_152713.5(STT3A):c.961+25C>T	noncoding	Benign
11	125608344	C	T	C125608344T	STT3A	NM_152713.5(STT3A):c.961+55C>T	noncoding	Benign
11	125611726	G	A	G125611726A	STT3A	NM_152713.5(STT3A):c.1209+207G>A	noncoding	Benign
11	125612344	A	C	A125612344C	STT3A	NM_152713.5(STT3A):c.1210-248A>C	noncoding	Benign
11	125612450	G	A	G125612450A	STT3A	NM_152713.5(STT3A):c.1210-142G>A	noncoding	Benign
11	125612595	C	T	C125612595T	STT3A	NM_152713.5(STT3A):c.1213C>T:p.Arg405Cys	coding	Pathogenic
11	125612818	G	A	G125612818A	STT3A	NM_152713.5(STT3A):c.1365+71G>A	noncoding	Benign
11	125613276	G	T	G125613276T	STT3A	NM_152713.5(STT3A):c.1554+99G>T	noncoding	Benign
11	125613990	G	A	G125613990A	STT3A	NM_152713.5(STT3A):c.1555-97G>A	noncoding	Benign
11	125619726	A	G	A125619726G	STT3A	NM_152713.5(STT3A):c.1964-285A>G	noncoding	Benign
11	125619893	A	C	A125619893C	STT3A	NM_152713.5(STT3A):c.1964-118A>C	noncoding	Benign
11	125620721	C	A	C125620721A	STT3A	NM_152713.5(STT3A):c.2080-51C>A	noncoding	Benign
11	125627447	A	G	A125627447G	CHEK1	NM_001114122.3(CHEK1):c.66-160A>G	noncoding	Benign
11	125747715	A	G	A125747715G	PATE1	NM_138294.3(PATE1):c.140A>G:p.Gln47Arg	coding	Benign
11	125893851	C	G	C125893851G	PUS3	NM_031307.4(PUS3):c.1380G>C:p.Glu460Asp	coding	Benign
11	125895633	G	A	G125895633A	PUS3	NM_031307.4(PUS3):c.535C>T:p.Pro179Ser	coding	Benign
11	125896149	C	A	C125896149A	PUS3	NM_031307.4(PUS3):c.136G>T:p.Ala46Ser	coding	Benign
11	125896278	A	C	A125896278C	PUS3	NM_031307.4(PUS3):c.7T>G:p.Tyr3Asp	coding	Benign
11	125896283	A	G	A125896283G	HYLS1	NM_001134793.2(HYLS1):c.-25-3061A>G	coding	Pathogenic
11	125896309	G	C	G125896309C	PUS3	NM_031307.4(PUS3):c.-25C>G	noncoding	Benign
11	125896312	C	T	C125896312T	PUS3	NM_031307.4(PUS3):c.-28G>A	noncoding	Benign
11	125899031	G	A	G125899031A	HYLS1	NM_001134793.2(HYLS1):c.-25-313G>A	noncoding	Benign
11	125900530	A	C	A125900530C	HYLS1	NM_001134793.2(HYLS1):c.*262A>C	noncoding	Benign
11	125904062	G	C	G125904062C	DDX25	NM_001330438.2(DDX25):c.-280+632G>C	noncoding	Benign
11	125904156	C	T	C125904156T	DDX25	NM_001330438.2(DDX25):c.-280+726C>T	noncoding	Benign
11	125904191	G	T	G125904191T	DDX25	NM_001330438.2(DDX25):c.-280+761G>T	noncoding	Benign
11	125908055	G	T	G125908055T	DDX25	NM_013264.5(DDX25):c.312-141G>T	noncoding	Benign
11	125908324	T	C	T125908324C	DDX25	NM_013264.5(DDX25):c.404+36T>C	noncoding	Benign
11	125908556	T	A	T125908556A	DDX25	NM_013264.5(DDX25):c.507+53T>A	noncoding	Benign
11	125908558	G	T	G125908558T	DDX25	NM_013264.5(DDX25):c.507+55G>T	noncoding	Benign
11	125910021	G	A	G125910021A	DDX25	NM_013264.5(DDX25):c.508-343G>A	noncoding	Benign
11	125910210	A	C	A125910210C	DDX25	NM_013264.5(DDX25):c.508-154A>C	noncoding	Benign
11	125910299	C	T	C125910299T	DDX25	NM_013264.5(DDX25):c.508-65C>T	noncoding	Benign
11	125917017	T	G	T125917017G	DDX25	NM_013264.5(DDX25):c.804T>G:p.Ala268=	coding	Benign
11	125917548	C	T	C125917548T	DDX25	NM_013264.5(DDX25):c.1038+297C>T	noncoding	Benign
11	125917566	G	A	G125917566A	DDX25	NM_013264.5(DDX25):c.1038+315G>A	noncoding	Benign
11	125917584	A	C	A125917584C	DDX25	NM_013264.5(DDX25):c.1038+333A>C	noncoding	Benign
11	125918360	C	A	C125918360A	DDX25	NM_013264.5(DDX25):c.1039-268C>A	noncoding	Benign
11	125918718	C	T	C125918718T	DDX25	NM_013264.5(DDX25):c.1129C>T:p.Arg377Ter	coding	Pathogenic
11	125918783	T	C	T125918783C	DDX25	NM_013264.5(DDX25):c.1194T>C:p.Cys398=	coding	Benign
11	125919090	G	A	G125919090A	DDX25	NM_013264.5(DDX25):c.1201+300G>A	noncoding	Benign
11	125921122	C	T	C125921122T	DDX25	NM_013264.5(DDX25):c.1202-69C>T	noncoding	Benign
11	125921621	C	T	C125921621T	DDX25	NM_013264.5(DDX25):c.1390+242C>T	noncoding	Benign
11	125922521	T	C	T125922521C	DDX25	NM_013264.5(DDX25):c.1391-299T>C	noncoding	Benign
11	125923161	T	G	T125923161G	DDX25	NM_013264.5(DDX25):c.*280T>G	noncoding	Benign
11	125961255	G	A	G125961255A	CDON	NM_001378964.1(CDON):c.3632-150C>T	noncoding	Benign
11	125961512	T	C	T125961512C	CDON	NM_001378964.1(CDON):c.3631+212A>G	noncoding	Benign
11	125961715	C	T	C125961715T	CDON	NM_001378964.1(CDON):c.3631+9G>A	coding	Benign
11	125978094	G	T	G125978094T	CDON	NM_001378964.1(CDON):c.3356+210C>A	noncoding	Benign
11	125978141	G	A	G125978141A	CDON	NM_001378964.1(CDON):c.3356+163C>T	noncoding	Benign
11	125978524	A	C	A125978524C	CDON	NM_001378964.1(CDON):c.3277-141T>G	noncoding	Benign
11	125978587	T	C	T125978587C	CDON	NM_001378964.1(CDON):c.3277-204A>G	noncoding	Benign
11	125978611	C	T	C125978611T	CDON	NM_001378964.1(CDON):c.3277-228G>A	noncoding	Benign
11	125978626	T	A	T125978626A	CDON	NM_001378964.1(CDON):c.3277-243A>T	noncoding	Benign
11	125980870	A	C	A125980870C	CDON	NM_001378964.1(CDON):c.3276+179T>G	noncoding	Benign
11	125980986	C	G	C125980986G	CDON	NM_001378964.1(CDON):c.3276+63G>C	noncoding	Benign
11	125981516	A	G	A125981516G	CDON	NM_001378964.1(CDON):c.2996-187T>C	noncoding	Benign
11	125983628	A	T	A125983628T	CDON	NM_001378964.1(CDON):c.2995+244T>A	noncoding	Benign
11	125983664	T	C	T125983664C	CDON	NM_001378964.1(CDON):c.2995+208A>G	noncoding	Benign
11	125983802	A	G	A125983802G	CDON	NM_001378964.1(CDON):c.2995+70T>C	noncoding	Benign
11	125989888	T	C	T125989888C	CDON	NM_001378964.1(CDON):c.2651-129A>G	noncoding	Benign
11	125989895	A	C	A125989895C	CDON	NM_001378964.1(CDON):c.2651-136T>G	noncoding	Benign
11	125994099	C	A	C125994099A	CDON	NM_001378964.1(CDON):c.2650+185G>T	noncoding	Benign
11	125994595	G	C	G125994595C	CDON	NM_001378964.1(CDON):c.2545-206C>G	noncoding	Benign
11	125994880	T	C	T125994880C	CDON	NM_001378964.1(CDON):c.2535A>G:p.Leu845=	coding	Benign
11	125995118	A	G	A125995118G	CDON	NM_001378964.1(CDON):c.2363-66T>C	noncoding	Benign
11	126001485	T	C	T126001485C	CDON	NM_001378964.1(CDON):c.2158+234A>G	noncoding	Benign
11	126001558	T	C	T126001558C	CDON	NM_001378964.1(CDON):c.2158+161A>G	noncoding	Benign
11	126001659	C	A	C126001659A	CDON	NM_001378964.1(CDON):c.2158+60G>T	noncoding	Benign
11	126002060	A	G	A126002060G	CDON	NM_001378964.1(CDON):c.2027-210T>C	noncoding	Benign
11	126002065	G	C	G126002065C	CDON	NM_001378964.1(CDON):c.2027-215C>G	noncoding	Benign
11	126004263	G	C	G126004263C	CDON	NM_001378964.1(CDON):c.1852-187C>G	noncoding	Benign
11	126005503	C	T	C126005503T	CDON	NM_001378964.1(CDON):c.1851+256G>A	noncoding	Benign
11	126005619	G	A	G126005619A	CDON	NM_001378964.1(CDON):c.1851+140C>T	noncoding	Benign
11	126005659	T	A	T126005659A	CDON	NM_001378964.1(CDON):c.1851+100A>T	noncoding	Benign
11	126010168	C	T	C126010168T	CDON	NM_001378964.1(CDON):c.1552+173G>A	noncoding	Benign
11	126015009	G	A	G126015009A	CDON	NM_001378964.1(CDON):c.1198+232C>T	noncoding	Benign
11	126015106	C	A	C126015106A	CDON	NM_001378964.1(CDON):c.1198+135G>T	noncoding	Benign
11	126015696	C	T	C126015696T	CDON	NM_001378964.1(CDON):c.929-186G>A	noncoding	Benign
11	126015836	C	T	C126015836T	CDON	NM_001378964.1(CDON):c.929-326G>A	noncoding	Benign
11	126016845	T	C	T126016845C	CDON	NM_001378964.1(CDON):c.928+243A>G	noncoding	Benign
11	126018082	T	C	T126018082C	CDON	NM_001378964.1(CDON):c.640+248A>G	noncoding	Benign
11	126018100	C	G	C126018100G	CDON	NM_001378964.1(CDON):c.640+230G>C	noncoding	Benign
11	126019363	A	G	A126019363G	CDON	NM_001378964.1(CDON):c.496+256T>C	noncoding	Benign
11	126019776	T	C	T126019776C	CDON	NM_001378964.1(CDON):c.350-11A>G	noncoding	Benign/Likely_benign
11	126019784	C	T	C126019784T	CDON	NM_001378964.1(CDON):c.350-19G>A	noncoding	Benign
11	126019860	C	T	C126019860T	CDON	NM_001378964.1(CDON):c.350-95G>A	noncoding	Benign
11	126020095	C	G	C126020095G	CDON	NM_001378964.1(CDON):c.350-330G>C	noncoding	Benign
11	126020939	G	A	G126020939A	CDON	NM_001378964.1(CDON):c.349+309C>T	noncoding	Benign
11	126021008	C	T	C126021008T	CDON	NM_001378964.1(CDON):c.349+240G>A	noncoding	Benign
11	126021550	A	T	A126021550T	CDON	NM_001378964.1(CDON):c.77-30T>A	noncoding	Benign
11	126021587	C	T	C126021587T	CDON	NM_001378964.1(CDON):c.77-67G>A	noncoding	Benign
11	126021699	G	A	G126021699A	CDON	NM_001378964.1(CDON):c.77-179C>T	noncoding	Benign
11	126021811	T	C	T126021811C	CDON	NM_001378964.1(CDON):c.77-291A>G	noncoding	Benign
11	126023158	T	A	T126023158A	CDON	NM_001378964.1(CDON):c.76+243A>T	noncoding	Benign
11	126023181	T	C	T126023181C	CDON	NM_001378964.1(CDON):c.76+220A>G	noncoding	Benign
11	126023316	C	G	C126023316G	CDON	NM_001378964.1(CDON):c.76+85G>C	noncoding	Benign
11	126023603	G	A	G126023603A	CDON	NM_001378964.1(CDON):c.-61-66C>T	noncoding	Benign
11	126023608	T	C	T126023608C	CDON	NM_001378964.1(CDON):c.-61-71A>G	noncoding	Benign
11	126023657	C	T	C126023657T	CDON	NM_001378964.1(CDON):c.-61-120G>A	noncoding	Benign
11	126268860	G	A	G126268860A	FOXRED1	NM_003139.4(SRPRA):c.-56C>T	noncoding	Benign
11	126269418	T	A	T126269418A	FOXRED1	NM_017547.4(FOXRED1):c.85+127T>A	noncoding	Benign
11	126272869	C	T	C126272869T	FOXRED1	NM_017547.4(FOXRED1):c.307-100C>T	noncoding	Benign
11	126273014	C	T	C126273014T	FOXRED1	NM_017547.4(FOXRED1):c.352C>T:p.Gln118Ter	coding	Pathogenic
11	126273097	C	T	C126273097T	FOXRED1	NM_017547.4(FOXRED1):c.417+18C>T	noncoding	Benign/Likely_benign
11	126273463	C	G	C126273463G	FOXRED1	NM_017547.4(FOXRED1):c.536+9C>G	noncoding	Benign/Likely_benign
11	126274964	C	G	C126274964G	FOXRED1	NM_017547.4(FOXRED1):c.574C>G:p.Gln192Glu	coding	Benign
11	126275429	G	A	G126275429A	FOXRED1	NM_017547.4(FOXRED1):c.733+1G>A	coding	Pathogenic
11	126276036	T	C	T126276036C	FOXRED1	NM_017547.4(FOXRED1):c.811-23T>C	noncoding	Benign
11	126276349	C	T	C126276349T	FOXRED1	NM_017547.4(FOXRED1):c.972-45C>T	noncoding	Benign
11	126276396	A	G	A126276396G	FOXRED1	NM_017547.4(FOXRED1):c.974A>G:p.Tyr325Cys	coding	Benign
11	126277879	T	C	T126277879C	FOXRED1	NM_017547.4(FOXRED1):c.*190T>C	noncoding	Benign/Likely_benign
11	126292948	C	T	C126292948T	TIRAP	NM_001318777.2(TIRAP):c.539C>T:p.Ser180Leu	coding	Benign
11	126304143	C	T	C126304143T	DCPS	NM_014026.6(DCPS):c.63C>T:p.His21=	coding	Benign
11	126304269	C	T	C126304269T	DCPS	NM_014026.6(DCPS):c.189C>T:p.Phe63=	coding	Benign
11	126306683	G	A	G126306683A	DCPS	NM_014026.6(DCPS):c.315G>A:p.Gln105=	coding	Benign
11	126338337	G	C	G126338337C	DCPS	NM_014026.6(DCPS):c.574G>C:p.Glu192Gln	coding	Benign/Likely_benign
11	126424569	G	A	G126424569A	KIRREL3	NM_032531.4(KIRREL3):c.*11C>T	noncoding	Benign
11	126424922	G	A	G126424922A	KIRREL3	NM_032531.4(KIRREL3):c.1995C>T:p.Gly665=	coding	Benign
11	126429199	A	G	A126429199G	KIRREL3	NM_032531.4(KIRREL3):c.1786T>C:p.Ser596Pro	coding	Benign
11	126521402	T	G	T126521402G	KIRREL3	NM_032531.4(KIRREL3):c.346A>C:p.Arg116=	coding	Benign
11	126526647	C	T	C126526647T	KIRREL3	NM_032531.4(KIRREL3):c.174G>A:p.Val58=	coding	Benign
11	128460625	T	C	T128460625C	ETS1	NM_001143820.2(ETS1):c.*1736A>G	noncoding	Benign
11	128694587	A	G	A128694587G	FLI1	NM_002017.5(FLI1):c.18+311A>G	noncoding	Benign
11	128694592	A	C	A128694592C	FLI1	NM_002017.5(FLI1):c.18+316A>C	noncoding	Benign
11	128757831	T	A	T128757831A	FLI1	NM_002017.5(FLI1):c.19-284T>A	noncoding	Benign
11	128758528	C	A	C128758528A	FLI1	NM_002017.5(FLI1):c.230+202C>A	noncoding	Benign
11	128758528	C	G	C128758528G	FLI1	NM_002017.5(FLI1):c.230+202C>G	noncoding	Benign
11	128758575	C	T	C128758575T	FLI1	NM_002017.5(FLI1):c.230+249C>T	noncoding	Benign
11	128764330	C	A	C128764330A	FLI1	NM_002017.5(FLI1):c.231-3788C>A	noncoding	Benign
11	128764865	C	T	C128764865T	FLI1	NM_002017.5(FLI1):c.231-3253C>T	noncoding	Benign
11	128767841	G	A	G128767841A	FLI1	NM_002017.5(FLI1):c.231-277G>A	noncoding	Benign
11	128767904	C	T	C128767904T	FLI1	NM_002017.5(FLI1):c.231-214C>T	noncoding	Benign
11	128767977	A	G	A128767977G	FLI1	NM_002017.5(FLI1):c.231-141A>G	noncoding	Benign
11	128768006	C	A	C128768006A	FLI1	NM_002017.5(FLI1):c.231-112C>A	noncoding	Benign
11	128768533	A	T	A128768533T	FLI1	NM_002017.5(FLI1):c.385+261A>T	noncoding	Benign
11	128772493	C	T	C128772493T	FLI1	NM_002017.5(FLI1):c.386-289C>T	noncoding	Benign
11	128773084	C	T	C128773084T	FLI1	NM_002017.5(FLI1):c.589+99C>T	noncoding	Benign
11	128781998	A	G	A128781998G	FLI1	NM_002017.5(FLI1):c.630A>G:p.Gln210=	coding	Benign
11	128782117	G	T	G128782117T	FLI1	NM_002017.5(FLI1):c.655+94G>T	noncoding	Benign
11	128782243	T	G	T128782243G	FLI1	NM_002017.5(FLI1):c.655+220T>G	noncoding	Benign
11	128805397	T	A	T128805397A	FLI1	NM_002017.5(FLI1):c.687T>A:p.Ala229=	coding	Benign
11	128805506	C	T	C128805506T	FLI1	NM_002017.5(FLI1):c.721+75C>T	noncoding	Benign
11	128806973	G	T	G128806973T	FLI1	NM_002017.5(FLI1):c.722-207G>T	noncoding	Benign
11	128807018	A	G	A128807018G	FLI1	NM_002017.5(FLI1):c.722-162A>G	noncoding	Benign
11	128807085	C	T	C128807085T	FLI1	NM_002017.5(FLI1):c.722-95C>T	noncoding	Benign
11	128809110	A	G	A128809110G	FLI1	NM_002017.5(FLI1):c.782-47A>G	noncoding	Benign
11	128809316	G	C	G128809316C	FLI1	NM_002017.5(FLI1):c.829+112G>C	noncoding	Benign
11	128809506	G	A	G128809506A	FLI1	NM_002017.5(FLI1):c.829+302G>A	noncoding	Benign
11	128810258	C	T	C128810258T	FLI1	NM_002017.5(FLI1):c.830-201C>T	noncoding	Benign
11	128810473	C	T	C128810473T	FLI1	NM_002017.5(FLI1):c.844C>T:p.Gln282Ter	coding	Pathogenic
11	128810571	C	G	C128810571G	FLI1	NM_002017.5(FLI1):c.942C>G:p.Pro314=	coding	Benign
11	128839357	A	C	A128839357C	KCNJ1	NM_153766.3(KCNJ1):c.887T>G:p.Val296Gly	coding	Pathogenic
11	128840550	T	C	T128840550C	KCNJ1	NM_153766.3(KCNJ1):c.-21-286A>G	noncoding	Benign
11	128842711	A	G	A128842711G	KCNJ1	NM_153766.3(KCNJ1):c.-21-2447T>C	noncoding	Benign
11	128891780	G	A	G128891780A	KCNJ5	NM_000890.5(KCNJ5):c.-11+59G>A	noncoding	Benign
11	128911939	C	A	C128911939A	KCNJ5	NM_000890.5(KCNJ5):c.666C>A:p.Gly222_Asp223=	coding	Benign
11	128998344	T	C	T128998344C	ARHGAP32	NM_001378024.1(ARHGAP32):c.1170A>G:p.Glu390=	coding	Benign
11	130159766	T	C	T130159766C	ST14	Single_allele	noncoding	Benign
11	130160143	C	T	C130160143T	ST14	NM_021978.4(ST14):c.81+83C>T	noncoding	Benign
11	130188152	A	G	A130188152G	ST14	NM_021978.4(ST14):c.120A>G:p.Pro40=	coding	Benign
11	130188511	G	A	G130188511A	ST14	NM_021978.4(ST14):c.242-19G>A	noncoding	Benign
11	130188542	G	A	G130188542A	ST14	NM_021978.4(ST14):c.254G>A:p.Arg85His	coding	Benign
11	130190322	C	T	C130190322T	ST14	NM_021978.4(ST14):c.635-132C>T	noncoding	Benign
11	130190449	C	T	C130190449T	ST14	NM_021978.4(ST14):c.635-5C>T	noncoding	Benign
11	130190674	G	A	G130190674A	ST14	NM_021978.4(ST14):c.855G>A:p.Met285Ile	coding	Benign
11	130190717	A	G	A130190717G	ST14	NM_021978.4(ST14):c.875+23A>G	noncoding	Benign
11	130194328	A	G	A130194328G	ST14	NM_021978.4(ST14):c.1015+40A>G	noncoding	Benign
11	130196366	C	A	C130196366A	ST14	NM_021978.4(ST14):c.1141C>A:p.Arg381Ser	coding	Benign
11	130196477	G	A	G130196477A	ST14	NM_021978.4(ST14):c.1223+29G>A	noncoding	Benign
11	130196565	T	C	T130196565C	ST14	NM_021978.4(ST14):c.1224-5T>C	noncoding	Benign
11	130196972	T	C	T130196972C	ST14	NM_021978.4(ST14):c.1354+272T>C	noncoding	Benign
11	130196976	C	T	C130196976T	ST14	NM_021978.4(ST14):c.1354+276C>T	noncoding	Benign
11	130197005	C	T	C130197005T	ST14	NM_021978.4(ST14):c.1354+305C>T	noncoding	Benign
11	130197007	G	A	G130197007A	ST14	NM_021978.4(ST14):c.1354+307G>A	noncoding	Benign
11	130197869	G	T	G130197869T	ST14	NM_021978.4(ST14):c.1383G>T:p.Thr461=	coding	Benign
11	130197997	C	T	C130197997T	ST14	NM_021978.4(ST14):c.1459+52C>T	noncoding	Benign
11	130198092	A	C	A130198092C	ST14	NM_021978.4(ST14):c.1459+147A>C	noncoding	Benign
11	130198493	C	A	C130198493A	ST14	NM_021978.4(ST14):c.1571-15C>A	noncoding	Benign
11	130198596	G	C	G130198596C	ST14	NM_021978.4(ST14):c.1659G>C:p.Gly553=	coding	Benign
11	130198659	C	T	C130198659T	ST14	NM_021978.4(ST14):c.1684+38C>T	noncoding	Benign
11	130199291	A	G	A130199291G	ST14	NM_021978.4(ST14):c.1807+222A>G	noncoding	Benign
11	130199661	G	A	G130199661A	ST14	NM_021978.4(ST14):c.1808-290G>A	noncoding	Benign
11	130199809	C	T	C130199809T	ST14	NM_021978.4(ST14):c.1808-142C>T	noncoding	Benign
11	130199895	T	G	T130199895G	ST14	NM_021978.4(ST14):c.1808-56T>G	noncoding	Benign
11	130209339	G	C	G130209339C	ST14	NM_021978.4(ST14):c.2270-103G>C	noncoding	Benign
11	130209582	G	C	G130209582C	ST14	NM_021978.4(ST14):c.2406+4G>C	noncoding	Benign
11	130209679	C	T	C130209679T	ST14	NM_021978.4(ST14):c.2424C>T:p.Pro808=	coding	Benign
11	130210122	C	T	C130210122T	ST14	NM_021978.4(ST14):c.*299C>T	noncoding	Benign
11	134068835	C	G	C134068835G	JAM3	Single_allele	noncoding	Benign
11	134069412	C	T	C134069412T	JAM3	NM_032801.5(JAM3):c.76+253C>T	noncoding	Benign
11	134139965	T	C	T134139965C	JAM3	NM_032801.5(JAM3):c.142+49T>C	noncoding	Benign
11	134140052	G	A	G134140052A	JAM3	NM_032801.5(JAM3):c.142+136G>A	noncoding	Benign
11	134140147	C	A	C134140147A	JAM3	NM_032801.5(JAM3):c.142+231C>A	noncoding	Benign
11	134140473	G	T	G134140473T	JAM3	NM_032801.5(JAM3):c.143-184G>T	noncoding	Benign
11	134140827	A	G	A134140827G	JAM3	NM_032801.5(JAM3):c.256+57A>G	noncoding	Benign
11	134140943	T	C	T134140943C	JAM3	NM_032801.5(JAM3):c.256+173T>C	noncoding	Benign
11	134144342	C	T	C134144342T	JAM3	NM_032801.5(JAM3):c.358C>T:p.Arg120Ter	coding	Pathogenic
11	134144791	G	A	G134144791A	JAM3	NM_032801.5(JAM3):c.410-1G>A	noncoding	Pathogenic
11	134145259	G	A	G134145259A	JAM3	NM_032801.5(JAM3):c.612+265G>A	noncoding	Benign
11	134146116	T	C	T134146116C	JAM3	NM_032801.5(JAM3):c.712+71T>C	noncoding	Benign
11	134148753	T	G	T134148753G	JAM3	NM_032801.5(JAM3):c.843-11T>G	noncoding	Benign
11	134148850	G	A	G134148850A	JAM3	NM_032801.5(JAM3):c.897+32G>A	noncoding	Benign
11	134148996	T	A	T134148996A	JAM3	NM_032801.5(JAM3):c.898-150T>A	noncoding	Benign
11	134149085	G	A	G134149085A	JAM3	NM_032801.5(JAM3):c.898-61G>A	noncoding	Benign
11	134149217	G	T	G134149217T	JAM3	NM_032801.5(JAM3):c.*36G>T	noncoding	Benign
11	134149466	G	A	G134149466A	JAM3	NM_032801.5(JAM3):c.*285G>A	noncoding	Benign
11	134177348	T	C	T134177348C	NCAPD3	NM_015261.3(NCAPD3):c.2892A>G:p.Val964=	coding	Benign
11	134194645	T	C	T134194645C	NCAPD3	NM_015261.3(NCAPD3):c.1689+20A>G	noncoding	Benign
11	134203124	A	T	A134203124T	NCAPD3	NM_015261.3(NCAPD3):c.1525+18T>A	noncoding	Benign
11	134204018	C	T	C134204018T	NCAPD3	NM_015261.3(NCAPD3):c.1215+28G>A	noncoding	Benign
11	134204204	T	C	T134204204C	NCAPD3	NM_015261.3(NCAPD3):c.1090-33A>G	noncoding	Benign
11	134253534	G	A	G134253534A	ACAD8	NM_014384.2(ACAD8):c.-67G>A	noncoding	Benign/Likely_benign
11	134253968	C	A	C134253968A	ACAD8	NM_014384.3(ACAD8):c.109+259C>A	noncoding	Benign
11	134256673	C	T	C134256673T	ACAD8	NM_014384.3(ACAD8):c.210+25C>T	noncoding	Benign
11	134256718	T	C	T134256718C	ACAD8	NM_014384.3(ACAD8):c.210+70T>C	noncoding	Benign
11	134256857	G	A	G134256857A	ACAD8	NM_014384.3(ACAD8):c.210+209G>A	noncoding	Benign
11	134257163	G	A	G134257163A	ACAD8	NM_014384.3(ACAD8):c.286G>A:p.Gly96Ser	coding	Pathogenic
11	134258284	G	C	G134258284C	ACAD8	NM_014384.3(ACAD8):c.381-231G>C	noncoding	Benign
11	134258300	T	A	T134258300A	ACAD8	NM_014384.3(ACAD8):c.381-215T>A	noncoding	Benign
11	134258419	G	T	G134258419T	ACAD8	NM_014384.3(ACAD8):c.381-96G>T	noncoding	Benign
11	134258542	C	T	C134258542T	ACAD8	NM_014384.3(ACAD8):c.408C>T:p.Phe136=	coding	Benign/Likely_benign
11	134258765	G	A	G134258765A	ACAD8	NM_014384.3(ACAD8):c.490+141G>A	noncoding	Benign
11	134259177	C	T	C134259177T	ACAD8	NM_014384.3(ACAD8):c.567+93C>T	noncoding	Benign
11	134259292	T	C	T134259292C	ACAD8	NM_014384.3(ACAD8):c.567+208T>C	noncoding	Benign
11	134259342	G	T	G134259342T	ACAD8	NM_014384.3(ACAD8):c.567+258G>T	noncoding	Benign
11	134259545	T	C	T134259545C	ACAD8	NM_014384.3(ACAD8):c.568-63T>C	noncoding	Benign
11	134260914	C	A	C134260914A	ACAD8	NM_014384.3(ACAD8):c.706-130C>A	noncoding	Benign
11	134260976	C	T	C134260976T	ACAD8	NM_014384.3(ACAD8):c.706-68C>T	noncoding	Benign
11	134260993	G	A	G134260993A	ACAD8	NM_014384.3(ACAD8):c.706-51G>A	noncoding	Benign
11	134261502	G	A	G134261502A	ACAD8	NM_014384.3(ACAD8):c.939+130G>A	noncoding	Benign
11	134261528	T	C	T134261528C	ACAD8	NM_014384.3(ACAD8):c.939+156T>C	noncoding	Benign
11	134261556	C	A	C134261556A	ACAD8	NM_014384.3(ACAD8):c.940-182C>A	noncoding	Benign
11	134261615	A	G	A134261615G	ACAD8	NM_014384.3(ACAD8):c.940-123A>G	noncoding	Benign
11	134261798	C	T	C134261798T	ACAD8	NM_014384.3(ACAD8):c.1000C>T:p.Arg334Cys	coding	Pathogenic
11	134261891	G	A	G134261891A	ACAD8	NM_014384.3(ACAD8):c.1092+1G>A	coding	Pathogenic
11	134261891	G	C	G134261891C	ACAD8	NM_014384.3(ACAD8):c.1092+1G>C	coding	Pathogenic
11	134261969	A	C	A134261969C	ACAD8	NM_014384.3(ACAD8):c.1092+79A>C	noncoding	Benign
11	134262263	C	T	C134262263T	ACAD8	NM_014384.3(ACAD8):c.1093-257C>T	noncoding	Benign
11	134262367	A	T	A134262367T	ACAD8	NM_014384.3(ACAD8):c.1093-153A>T	noncoding	Benign
11	134262440	G	C	G134262440C	ACAD8	NM_014384.3(ACAD8):c.1093-80G>C	noncoding	Benign
11	134262665	G	A	G134262665A	ACAD8	NM_014384.3(ACAD8):c.1195+43G>A	noncoding	Benign
11	134262786	G	C	G134262786C	ACAD8	NM_014384.3(ACAD8):c.1195+164G>C	noncoding	Benign
11	134262810	C	T	C134262810T	ACAD8	NM_014384.3(ACAD8):c.1195+188C>T	noncoding	Benign
12	165899	A	G	A165899G	IQSEC3	NM_001170738.2(IQSEC3):c.2971+9A>G	noncoding	Benign
12	318409	A	G	A318409G	KDM5A	NM_001042603.3(KDM5A):c.2594T>C:p.Met865Thr	coding	Benign
12	829987	G	A	G829987A	WNK1	NM_018979.4(WNK1):c.1154-16G>A	noncoding	Benign
12	860961	G	T	G860961T	WNK1	NM_018979.4(WNK1):c.1621-52G>T	noncoding	Benign
12	861824	A	G	A861824G	WNK1	NM_018979.4(WNK1):c.1952-259A>G	noncoding	Benign
12	864856	A	G	A864856G	WNK1	NM_018979.4(WNK1):c.2139+2586A>G	noncoding	Benign
12	864909	C	T	C864909T	WNK1	NM_018979.4(WNK1):c.2139+2639C>T	noncoding	Benign
12	865238	T	C	T865238C	WNK1	NM_213655.5(WNK1):c.2268T>C:p.Pro756=	coding	Benign
12	865240	C	T	C865240T	WNK1	NM_213655.5(WNK1):c.2270C>T:p.Pro757Leu	coding	Benign/Likely_benign
12	865621	C	T	C865621T	WNK1	NM_018979.4(WNK1):c.2139+3351C>T	noncoding	Benign
12	867907	C	A	C867907A	WNK1	NM_213655.5(WNK1):c.2436C>A:p.Tyr812Ter	coding	Pathogenic
12	868243	A	G	A868243G	WNK1	NM_213655.5(WNK1):c.2772A>G:p.Glu924=	coding	Benign/Likely_benign
12	868745	C	T	C868745T	WNK1	NM_213655.5(WNK1):c.3274C>T:p.Gln1092Ter	coding	Pathogenic
12	868844	C	T	C868844T	WNK1	NM_213655.5(WNK1):c.3373C>T:p.Gln1125Ter	coding	Pathogenic
12	869006	C	T	C869006T	WNK1	NM_213655.5(WNK1):c.3535C>T:p.Gln1179Ter	coding	Pathogenic
12	878278	A	G	A878278G	WNK1	NM_018979.4(WNK1):c.2290A>G:p.Thr764Ala	coding	Benign
12	880231	A	G	A880231G	WNK1	NM_018979.4(WNK1):c.2832+200A>G	noncoding	Benign
12	880258	C	T	C880258T	WNK1	NM_018979.4(WNK1):c.2832+227C>T	noncoding	Benign
12	880673	T	C	T880673C	WNK1	NM_018979.4(WNK1):c.2833-48T>C	noncoding	Benign
12	881843	C	T	C881843T	WNK1	NM_018979.4(WNK1):c.3209+54C>T	noncoding	Benign
12	882195	C	T	C882195T	WNK1	NM_018979.4(WNK1):c.3372+122C>T	noncoding	Benign
12	883076	A	G	A883076G	WNK1	NM_018979.4(WNK1):c.3489+17A>G	noncoding	Benign
12	884663	G	T	G884663T	WNK1	NM_018979.4(WNK1):c.3859G>T:p.Ala1287Ser	coding	Benign/Likely_benign
12	885158	A	G	A885158G	WNK1	NM_018979.4(WNK1):c.4354A>G:p.Thr1452Ala	coding	Benign/Likely_benign
12	885787	T	C	T885787C	WNK1	NM_018979.4(WNK1):c.4983T>C:p.Ser1661=	coding	Benign/Likely_benign
12	885805	C	T	C885805T	WNK1	NM_018979.4(WNK1):c.5001C>T:p.Ser1667=	coding	Benign
12	887191	C	T	C887191T	WNK1	NM_018979.4(WNK1):c.5281-30C>T	noncoding	Benign
12	887217	G	A	G887217A	WNK1	NM_018979.4(WNK1):c.5281-4G>A	noncoding	Benign/Likely_benign
12	889058	A	T	A889058T	WNK1	NM_018979.4(WNK1):c.5365-82A>T	noncoding	Benign
12	890332	G	A	G890332A	WNK1	NM_018979.4(WNK1):c.5449-121G>A	noncoding	Benign
12	894651	T	G	T894651G	WNK1	NM_018979.4(WNK1):c.5583+16T>G	noncoding	Benign
12	895996	T	C	T895996C	WNK1	NM_018979.4(WNK1):c.5584-75T>C	noncoding	Benign
12	896958	C	T	C896958T	WNK1	NM_018979.4(WNK1):c.6245+226C>T	noncoding	Benign
12	900688	A	G	A900688G	WNK1	NM_018979.4(WNK1):c.6643+18A>G	noncoding	Benign/Likely_benign
12	907744	T	C	T907744C	WNK1	NM_018979.4(WNK1):c.6644-103T>C	noncoding	Benign
12	1810377	C	T	C1810377T	CACNA2D4	NM_172364.5(CACNA2D4):c.2659-37G>A	noncoding	Benign
12	1840791	C	T	C1840791T	CACNA2D4	NM_172364.5(CACNA2D4):c.2499G>A:p.Thr833=	coding	Benign
12	1846498	G	T	G1846498T	CACNA2D4	NM_172364.5(CACNA2D4):c.2342+96C>A	noncoding	Benign
12	1846502	C	A	C1846502A	CACNA2D4	NM_172364.5(CACNA2D4):c.2342+92G>T	noncoding	Benign
12	1846724	T	C	T1846724C	CACNA2D4	NM_172364.5(CACNA2D4):c.2247-35A>G	noncoding	Benign
12	1860096	T	C	T1860096C	CACNA2D4	NM_172364.5(CACNA2D4):c.1940+49A>G	noncoding	Benign
12	1860269	G	C	G1860269C	CACNA2D4	NM_172364.5(CACNA2D4):c.1879-63C>G	noncoding	Benign
12	1883017	C	T	C1883017T	CACNA2D4	NM_172364.5(CACNA2D4):c.1352-17G>A	noncoding	Benign
12	1883019	C	T	C1883019T	CACNA2D4	NM_172364.5(CACNA2D4):c.1352-19G>A	noncoding	Benign
12	1884171	T	C	T1884171C	CACNA2D4	NM_172364.5(CACNA2D4):c.1351+72A>G	noncoding	Benign
12	1884801	C	A	C1884801A	CACNA2D4	NM_172364.5(CACNA2D4):c.1239G>T:p.Pro413=	coding	Benign/Likely_benign
12	1885876	A	G	A1885876G	CACNA2D4	NM_172364.5(CACNA2D4):c.1068+89T>C	noncoding	Benign
12	1886456	G	C	G1886456C	CACNA2D4	NM_172364.5(CACNA2D4):c.843-83C>G	noncoding	Benign
12	1913245	T	C	T1913245C	CACNA2D4	NM_172364.5(CACNA2D4):c.310-106A>G	noncoding	Benign
12	1915150	A	G	A1915150G	CACNA2D4	NM_172364.5(CACNA2D4):c.228-215T>C	noncoding	Benign
12	2053339	T	C	T2053339C	CACNA1C	NM_000719.7(CACNA1C):c.-224T>C	noncoding	Benign
12	2053382	G	A	G2053382A	CACNA1C	NM_000719.7(CACNA1C):c.-181G>A	noncoding	Benign
12	2115282	G	A	G2115282A	CACNA1C	NM_000719.7(CACNA1C):c.108G>A:p.Ala36=	coding	Benign/Likely_benign
12	2115375	C	T	C2115375T	CACNA1C	NM_000719.7(CACNA1C):c.201C>T:p.Ser67=	coding	Benign/Likely_benign
12	2115411	G	A	G2115411A	CACNA1C	NM_000719.7(CACNA1C):c.237G>A:p.Thr79=	coding	Benign/Likely_benign
12	2120316	C	G	C2120316G	CACNA1C	NM_000719.7(CACNA1C):c.372-9C>G	noncoding	Benign/Likely_benign
12	2120322	C	T	C2120322T	CACNA1C	NM_000719.7(CACNA1C):c.372-3C>T	noncoding	Benign
12	2120766	C	T	C2120766T	CACNA1C	NM_000719.7(CACNA1C):c.477+336C>T	noncoding	Benign
12	2237227	C	T	C2237227T	CACNA1C	NM_000719.7(CACNA1C):c.477+116797C>T	noncoding	Benign
12	2240418	G	C	G2240418C	CACNA1C	NM_000719.7(CACNA1C):c.477+119988G>C	noncoding	Benign
12	2274839	T	G	T2274839G	CACNA1C	NM_000719.7(CACNA1C):c.477+154409T>G	noncoding	Benign
12	2448993	C	A	C2448993A	CACNA1C	NM_000719.7(CACNA1C):c.495C>A:p.Leu165=	coding	Benign
12	2449035	C	T	C2449035T	CACNA1C	NM_000719.7(CACNA1C):c.537C>T:p.Ile179=	coding	Benign/Likely_benign
12	2449093	G	A	G2449093A	CACNA1C	NM_000719.7(CACNA1C):c.595G>A:p.Asp199Asn	coding	Pathogenic
12	2485914	G	T	G2485914T	CACNA1C	NM_000719.7(CACNA1C):c.758-190G>T	noncoding	Benign
12	2486174	G	A	G2486174A	CACNA1C	NM_000719.7(CACNA1C):c.828G>A:p.Leu276=	coding	Benign/Likely_benign
12	2486201	C	T	C2486201T	CACNA1C	NM_000719.7(CACNA1C):c.855C>T:p.Ile285=	coding	Benign/Likely_benign
12	2486277	C	T	C2486277T	CACNA1C	NM_000719.7(CACNA1C):c.916+15C>T	noncoding	Benign
12	2493005	A	G	A2493005G	CACNA1C	NM_000719.7(CACNA1C):c.917-185A>G	noncoding	Benign
12	2493141	C	G	C2493141G	CACNA1C	NM_000719.7(CACNA1C):c.917-49C>G	noncoding	Benign
12	2493412	A	C	A2493412C	CACNA1C	NM_000719.7(CACNA1C):c.1113+26A>C	noncoding	Benign
12	2504420	T	C	T2504420C	CACNA1C	NM_000719.7(CACNA1C):c.1114-422T>C	noncoding	Benign
12	2504432	C	A	C2504432A	CACNA1C	NM_000719.7(CACNA1C):c.1114-410C>A	noncoding	Benign/Likely_benign
12	2504447	T	C	T2504447C	CACNA1C	NM_001167623.2(CACNA1C):c.1125T>C:p.Ala375=	coding	Benign
12	2512602	C	T	C2512602T	CACNA1C	NM_000719.7(CACNA1C):c.1218-210C>T	noncoding	Benign
12	2512845	C	T	C2512845T	CACNA1C	NM_000719.7(CACNA1C):c.1251C>T:p.Ala417=	coding	Benign/Likely_benign
12	2549971	C	T	C2549971T	CACNA1C	NM_000719.7(CACNA1C):c.1419C>T:p.Ser473=	coding	Benign/Likely_benign
12	2567555	C	T	C2567555T	CACNA1C	NM_000719.7(CACNA1C):c.1670-14C>T	noncoding	Benign
12	2567752	T	G	T2567752G	CACNA1C	NM_000719.7(CACNA1C):c.1853T>G:p.Val618Gly	coding	Pathogenic
12	2581622	C	T	C2581622T	CACNA1C	NM_000719.7(CACNA1C):c.1928C>T:p.Ser643Phe	coding	Pathogenic
12	2581647	C	T	C2581647T	CACNA1C	NM_000719.7(CACNA1C):c.1953C>T:p.Ile651=	coding	Benign/Likely_benign
12	2581662	T	A	T2581662A	CACNA1C	NM_000719.7(CACNA1C):c.1968T>A:p.Leu656=	coding	Benign
12	2581663	C	T	C2581663T	CACNA1C	NM_000719.7(CACNA1C):c.1969C>T:p.Leu657Phe	coding	Pathogenic
12	2581761	C	T	C2581761T	CACNA1C	NM_000719.7(CACNA1C):c.2067C>T:p.Phe689=	coding	Benign/Likely_benign
12	2581809	T	C	T2581809C	CACNA1C	NM_000719.7(CACNA1C):c.2103+12T>C	noncoding	Benign
12	2582825	C	T	C2582825T	CACNA1C	NM_000719.7(CACNA1C):c.2107C>T:p.Leu703=	coding	Benign
12	2585970	C	T	C2585970T	CACNA1C	NM_000719.7(CACNA1C):c.2530+66C>T	noncoding	Benign
12	2597501	T	G	T2597501G	CACNA1C	NM_000719.7(CACNA1C):c.2853+212T>G	noncoding	Benign
12	2597505	A	T	A2597505T	CACNA1C	NM_000719.7(CACNA1C):c.2853+216A>T	noncoding	Benign
12	2601517	A	G	A2601517G	CACNA1C	NM_000719.7(CACNA1C):c.2854-337A>G	noncoding	Benign
12	2605587	G	A	G2605587A	CACNA1C	NM_000719.7(CACNA1C):c.3049-92G>A	noncoding	Benign
12	2606604	C	T	C2606604T	CACNA1C	NM_000719.7(CACNA1C):c.3157-7C>T	noncoding	Benign/Likely_benign
12	2607011	G	A	G2607011A	CACNA1C	NM_000719.7(CACNA1C):c.3237G>A:p.Gly1079=	coding	Benign/Likely_benign
12	2608654	T	C	T2608654C	CACNA1C	NM_000719.7(CACNA1C):c.3500T>C:p.Val1167Ala	coding	Pathogenic/Likely_pathogenic
12	2610636	C	T	C2610636T	CACNA1C	NM_000719.7(CACNA1C):c.3654C>T:p.Ser1218=	coding	Benign/Likely_benign
12	2610660	C	T	C2610660T	CACNA1C	NM_000719.7(CACNA1C):c.3678C>T:p.Phe1226=	coding	Benign/Likely_benign
12	2610710	G	A	G2610710A	CACNA1C	NM_000719.7(CACNA1C):c.3717+11G>A	noncoding	Benign/Likely_benign
12	2633614	C	T	C2633614T	CACNA1C	NM_000719.7(CACNA1C):c.3829-683C>T	noncoding	Benign
12	2648521	T	C	T2648521C	CACNA1C	NM_000719.7(CACNA1C):c.3945+14T>C	noncoding	Benign
12	2651503	A	C	A2651503C	CACNA1C	NM_000719.7(CACNA1C):c.3946-137A>C	noncoding	Benign
12	2651556	G	A	G2651556A	CACNA1C	NM_000719.7(CACNA1C):c.3946-84G>A	noncoding	Benign
12	2651559	C	A	C2651559A	CACNA1C	NM_000719.7(CACNA1C):c.3946-81C>A	noncoding	Benign
12	2651594	C	G	C2651594G	CACNA1C	NM_000719.7(CACNA1C):c.3946-46C>G	coding	Benign
12	2651762	C	T	C2651762T	CACNA1C	NM_000719.7(CACNA1C):c.4068C>T:p.Ser1356=	coding	Benign/Likely_benign
12	2653847	G	T	G2653847T	CACNA1C	NM_000719.7(CACNA1C):c.4087G>T:p.Val1363Leu	coding	Pathogenic
12	2655228	C	G	C2655228G	CACNA1C	NM_000719.7(CACNA1C):c.4222C>G:p.Leu1408Val	coding	Pathogenic
12	2664915	G	A	G2664915A	CACNA1C	NM_000719.7(CACNA1C):c.4323G>A:p.Thr1441=	coding	Benign/Likely_benign
12	2666684	A	G	A2666684G	CACNA1C	NM_000719.7(CACNA1C):c.4527-2A>G	noncoding	Pathogenic
12	2666795	G	A	G2666795A	CACNA1C	NM_000719.7(CACNA1C):c.4623+13G>A	noncoding	Benign
12	2668895	C	G	C2668895G	CACNA1C	NM_000719.7(CACNA1C):c.4624-38C>G	coding	Benign
12	2676796	A	G	A2676796G	CACNA1C	NM_000719.7(CACNA1C):c.4829-298A>G	coding	Benign
12	2677881	T	C	T2677881C	CACNA1C	NM_000719.7(CACNA1C):c.5091+14T>C	coding	Benign
12	2678056	A	C	A2678056C	CACNA1C	NM_000719.7(CACNA1C):c.5091+189A>C	noncoding	Benign
12	2679488	C	T	C2679488T	CACNA1C	NM_000719.7(CACNA1C):c.5136C>T:p.Ser1712=	coding	Benign/Likely_benign
12	2679629	G	A	G2679629A	CACNA1C	NM_000719.7(CACNA1C):c.5277G>A:p.Ser1759=	coding	Benign/Likely_benign
12	2679695	C	T	C2679695T	CACNA1C	NM_000719.7(CACNA1C):c.5343C>T:p.Pro1781=	coding	Benign
12	2679698	C	T	C2679698T	CACNA1C	NM_000719.7(CACNA1C):c.5346C>T:p.Ala1782=	coding	Benign/Likely_benign
12	2679796	G	C	G2679796C	CACNA1C	NM_000719.7(CACNA1C):c.5444G>C:p.Arg1815Thr	coding	Benign
12	2680515	G	A	G2680515A	CACNA1C	NM_000719.7(CACNA1C):c.5444+719G>A	coding	Benign/Likely_benign
12	2680621	A	G	A2680621G	CACNA1C	NM_000719.7(CACNA1C):c.5444+825A>G	noncoding	Benign
12	2680623	C	G	C2680623G	CACNA1C	NM_000719.7(CACNA1C):c.5444+827C>G	noncoding	Benign
12	2681959	C	T	C2681959T	CACNA1C	NM_000719.7(CACNA1C):c.5445-591C>T	coding	Benign
12	2682556	C	T	C2682556T	CACNA1C	NM_000719.7(CACNA1C):c.5451C>T:p.His1817=	coding	Benign/Likely_benign
12	2685854	G	A	G2685854A	CACNA1C	NM_000719.7(CACNA1C):c.5680+12G>A	noncoding	Benign
12	2688442	C	T	C2688442T	CACNA1C	NM_000719.7(CACNA1C):c.5785-5C>T	noncoding	Benign/Likely_benign
12	2690886	C	T	C2690886T	CACNA1C	NM_000719.7(CACNA1C):c.6118-14C>T	coding	Benign/Likely_benign
12	2690995	A	T	A2690995T	CACNA1C	NM_000719.7(CACNA1C):c.6213A>T:p.Ile2071=	coding	Benign/Likely_benign
12	2691025	C	T	C2691025T	CACNA1C	NM_000719.7(CACNA1C):c.6243C>T:p.Ile2081=	coding	Benign/Likely_benign
12	2909557	C	T	C2909557T	TULP3	NM_003324.5(TULP3):c.70C>T:p.Arg24Ter	coding	Pathogenic
12	2931156	T	G	T2931156G	TULP3	NM_003324.5(TULP3):c.612T>G:p.Cys204Trp	coding	Pathogenic
12	2937730	G	A	G2937730A	TULP3	NM_003324.5(TULP3):c.1023+1G>A	coding	Pathogenic
12	2938234	C	T	C2938234T	TULP3	NM_003324.5(TULP3):c.1144C>T:p.Arg382Trp	coding	Pathogenic
12	2939338	G	A	G2939338A	TULP3	NM_003324.5(TULP3):c.1223G>A:p.Arg408His	coding	Pathogenic
12	4273992	T	C	T4273992C	CCND2	NM_001759.4(CCND2):c.-49T>C	noncoding	Benign
12	4274154	T	G	T4274154G	CCND2	NM_001759.4(CCND2):c.114T>G:p.Leu38=	coding	Benign/Likely_benign
12	4279105	C	T	C4279105T	CCND2	NM_001759.4(CCND2):c.571+186C>T	noncoding	Benign
12	4288540	T	A	T4288540A	CCND2	NM_001759.4(CCND2):c.572-302T>A	noncoding	Benign
12	4288600	G	C	G4288600C	CCND2	NM_001759.4(CCND2):c.572-242G>C	noncoding	Benign
12	4299895	G	A	G4299895A	CCND2	NM_001759.4(CCND2):c.756G>A:p.Ala252=	coding	Benign
12	4299941	G	A	G4299941A	CCND2	NM_001759.4(CCND2):c.802G>A:p.Gly268Arg	coding	Benign
12	4370573	G	A	G4370573A	FGF23	NM_020638.3(FGF23):c.526C>T:p.Arg176Trp	coding	Pathogenic
12	4372398	T	C	T4372398C	FGF23	NM_020638.3(FGF23):c.315+196A>G	noncoding	Benign
12	4372800	T	C	T4372800C	FGF23	NM_020638.3(FGF23):c.212-103A>G	noncoding	Benign
12	4372935	G	A	G4372935A	FGF23	NM_020638.3(FGF23):c.212-238C>T	noncoding	Benign
12	4380069	T	C	T4380069C	FGF23	Single_allele	noncoding	Benign
12	4434321	T	A	T4434321A	FGF6	NM_020996.3(FGF6):c.521A>T:p.Asp174Val	coding	Benign
12	4490600	A	C	A4490600C	C12orf4	NM_020374.4(C12orf4):c.1499-11T>G	noncoding	Benign
12	4649022	G	C	G4649022C	NDUFA9	NM_001278309.2(AKAP3):c.-522C>G	noncoding	Benign
12	4654183	C	T	C4654183T	NDUFA9	NM_005002.5(NDUFA9):c.50-109C>T	noncoding	Benign
12	4654234	G	C	G4654234C	NDUFA9	NM_005002.5(NDUFA9):c.50-58G>C	noncoding	Benign
12	4655029	C	T	C4655029T	NDUFA9	NM_005002.5(NDUFA9):c.318+107C>T	noncoding	Benign
12	4657597	C	T	C4657597T	NDUFA9	NM_005002.5(NDUFA9):c.319-151C>T	noncoding	Benign
12	4657632	T	C	T4657632C	NDUFA9	NM_005002.5(NDUFA9):c.319-116T>C	noncoding	Benign
12	4658718	A	T	A4658718T	NDUFA9	NM_005002.5(NDUFA9):c.411-318A>T	noncoding	Benign
12	4658732	A	G	A4658732G	NDUFA9	NM_005002.5(NDUFA9):c.411-304A>G	noncoding	Benign
12	4658929	T	C	T4658929C	NDUFA9	NM_005002.5(NDUFA9):c.411-107T>C	noncoding	Benign
12	4658937	G	A	G4658937A	NDUFA9	NM_005002.5(NDUFA9):c.411-99G>A	noncoding	Benign
12	4659271	C	T	C4659271T	NDUFA9	NM_005002.5(NDUFA9):c.552+94C>T	noncoding	Benign
12	4669921	A	G	A4669921G	NDUFA9	NM_005002.5(NDUFA9):c.800+104A>G	noncoding	Benign
12	4669962	C	T	C4669962T	NDUFA9	NM_005002.5(NDUFA9):c.800+145C>T	noncoding	Benign
12	4682285	C	T	C4682285T	NDUFA9	NM_005002.5(NDUFA9):c.881C>T:p.Pro294Leu	coding	Benign
12	4685185	A	G	A4685185G	NDUFA9	NM_005002.5(NDUFA9):c.897-74A>G	noncoding	Benign
12	4685239	A	G	A4685239G	NDUFA9	NM_005002.5(NDUFA9):c.897-20A>G	noncoding	Benign/Likely_benign
12	4911810	G	C	G4911810C	KCNA1	NM_000217.3(KCNA1):c.432G>C:p.Leu144=	coding	Benign/Likely_benign
12	4912228	C	T	C4912228T	KCNA1	NM_000217.3(KCNA1):c.850C>T:p.Gln284Ter	coding	Pathogenic
12	4912565	G	T	G4912565T	KCNA1	NM_000217.3(KCNA1):c.1187G>T:p.Gly396Val	coding	Pathogenic/Likely_pathogenic
12	4912580	C	T	C4912580T	KCNA1	NM_000217.3(KCNA1):c.1202C>T:p.Ala401Val	coding	Pathogenic/Likely_pathogenic
12	5043712	G	T	G5043712T	KCNA5	Single_allele	noncoding	Benign
12	5043783	C	T	C5043783T	KCNA5	Single_allele	noncoding	Benign
12	5043793	G	A	G5043793A	KCNA5	Single_allele	noncoding	Benign
12	5044618	C	T	C5044618T	KCNA5	NM_002234.4(KCNA5):c.471C>T:p.Asp157=	coding	Benign
12	5952519	G	A	G5952519A	VWF	NM_000552.5(VWF):c.7987C>T:p.Arg2663Cys	coding	Pathogenic
12	5967775	A	G	A5967775G	VWF	NM_000552.5(VWF):c.7771-173T>C	noncoding	Benign
12	5969204	G	A	G5969204A	VWF	NM_000552.5(VWF):c.7729+7C>T	noncoding	Pathogenic
12	5969310	G	A	G5969310A	VWF	NM_000552.5(VWF):c.7630C>T:p.Gln2544Ter	coding	Pathogenic
12	5969377	C	T	C5969377T	VWF	NM_000552.5(VWF):c.7563G>A:p.Trp2521Ter	coding	Pathogenic
12	5969450	T	G	T5969450G	VWF	NM_000552.5(VWF):c.7549-59A>C	noncoding	Benign
12	5971368	T	C	T5971368C	VWF	NM_000552.5(VWF):c.7548+231A>G	noncoding	Benign
12	5971411	G	C	G5971411C	VWF	NM_000552.5(VWF):c.7548+188C>G	noncoding	Benign
12	5971429	G	A	G5971429A	VWF	NM_000552.5(VWF):c.7548+170C>T	noncoding	Benign
12	5971633	G	T	G5971633T	VWF	NM_000552.5(VWF):c.7514C>A:p.Ser2505Ter	coding	Pathogenic
12	5976111	C	T	C5976111T	VWF	NM_000552.5(VWF):c.7437G>A:p.Ser2479=	coding	Pathogenic
12	5976248	G	A	G5976248A	VWF	NM_000552.5(VWF):c.7300C>T:p.Arg2434Ter	coding	Pathogenic
12	5976281	G	A	G5976281A	VWF	NM_000552.5(VWF):c.7288-21C>T	noncoding	Benign
12	5976347	A	G	A5976347G	VWF	NM_000552.5(VWF):c.7288-87T>C	noncoding	Benign
12	5981659	T	C	T5981659C	VWF	NM_000552.5(VWF):c.7287+127A>G	noncoding	Benign
12	5981726	G	A	G5981726A	VWF	NM_000552.5(VWF):c.7287+60C>T	noncoding	Benign
12	5982852	G	T	G5982852T	VWF	NM_000552.5(VWF):c.7081+298C>A	noncoding	Benign
12	5982869	C	T	C5982869T	VWF	NM_000552.5(VWF):c.7081+281G>A	noncoding	Benign
12	5983396	G	A	G5983396A	VWF	NM_000552.5(VWF):c.6977-142C>T	noncoding	Benign
12	5984786	T	C	T5984786C	VWF	NM_000552.5(VWF):c.6976+259A>G	noncoding	Benign
12	5984899	C	T	C5984899T	VWF	NM_000552.5(VWF):c.6976+146G>A	noncoding	Benign
12	5984916	G	A	G5984916A	VWF	NM_000552.5(VWF):c.6976+129C>T	noncoding	Benign
12	5984986	G	A	G5984986A	VWF	NM_000552.5(VWF):c.6976+59C>T	noncoding	Benign
12	5985110	C	T	C5985110T	VWF	NM_000552.5(VWF):c.6911G>A:p.Cys2304Tyr	coding	Pathogenic
12	5985224	C	T	C5985224T	VWF	NM_000552.5(VWF):c.6902-105G>A	noncoding	Benign
12	5985329	C	G	C5985329G	VWF	NM_000552.5(VWF):c.6902-210G>C	noncoding	Benign
12	5985771	C	G	C5985771G	VWF	NM_000552.5(VWF):c.6799-106G>C	noncoding	Benign
12	5991630	C	T	C5991630T	VWF	NM_000552.5(VWF):c.6798+189G>A	noncoding	Benign
12	5991874	C	T	C5991874T	VWF	NM_000552.5(VWF):c.6743G>A:p.Cys2248Tyr	coding	Pathogenic
12	5993598	G	A	G5993598A	VWF	NM_000552.5(VWF):c.6598+264C>T	noncoding	Benign
12	5993649	G	A	G5993649A	VWF	NM_000552.5(VWF):c.6598+213C>T	noncoding	Benign
12	5993736	C	T	C5993736T	VWF	NM_000552.5(VWF):c.6598+126G>A	noncoding	Benign
12	5993741	G	A	G5993741A	VWF	NM_000552.5(VWF):c.6598+121C>T	noncoding	Benign
12	5993925	A	G	A5993925G	VWF	NM_000552.5(VWF):c.6535T>C:p.Ser2179Pro	coding	Pathogenic
12	5994435	G	C	G5994435C	VWF	NM_000552.5(VWF):c.6236C>G:p.Ser2079Ter	coding	Pathogenic
12	5994832	C	T	C5994832T	VWF	NM_000552.5(VWF):c.6064-225G>A	noncoding	Benign
12	5995702	G	A	G5995702A	VWF	NM_000552.5(VWF):c.6063+300C>T	noncoding	Benign
12	5995977	C	T	C5995977T	VWF	NM_000552.5(VWF):c.6063+25G>A	noncoding	Benign
12	5996333	T	C	T5996333C	VWF	NM_000552.5(VWF):c.5843-111A>G	noncoding	Benign
12	6011666	C	G	C6011666G	VWF	NM_000552.5(VWF):c.5793G>C:p.Gln1931His	coding	Pathogenic
12	6011668	G	A	G6011668A	VWF	NM_000552.5(VWF):c.5791C>T:p.Gln1931Ter	coding	Pathogenic
12	6011912	C	T	C6011912T	VWF	NM_000552.5(VWF):c.5665-118G>A	noncoding	Benign
12	6013586	A	G	A6013586G	VWF	NM_000552.5(VWF):c.5515T>C:p.Leu1839=	coding	Benign
12	6016088	C	T	C6016088T	VWF	NM_000552.5(VWF):c.5455+1G>A	noncoding	Pathogenic
12	6016164	T	C	T6016164C	VWF	NM_000552.5(VWF):c.5380A>G:p.Lys1794Glu	coding	Pathogenic
12	6016209	G	A	G6016209A	VWF	NM_000552.5(VWF):c.5335C>T:p.Arg1779Ter	coding	Pathogenic
12	6016592	C	A	C6016592A	VWF	NM_000552.5(VWF):c.5235G>T:p.Trp1745Cys	coding	Pathogenic
12	6016592	C	T	C6016592T	VWF	NM_000552.5(VWF):c.5235G>A:p.Trp1745Ter	coding	Pathogenic
12	6018235	T	G	T6018235G	VWF	NM_000552.5(VWF):c.5053+130A>C	noncoding	Benign
12	6018283	G	A	G6018283A	VWF	NM_000552.5(VWF):c.5053+82C>T	noncoding	Benign
12	6018328	C	T	C6018328T	VWF	NM_000552.5(VWF):c.5053+37G>A	noncoding	Benign
12	6018440	C	A	C6018440A	VWF	NM_000552.5(VWF):c.4978G>T:p.Glu1660Ter	coding	Pathogenic
12	6018487	C	T	C6018487T	VWF	NM_000552.5(VWF):c.4931G>A:p.Trp1644Ter	coding	Pathogenic/Likely_pathogenic
12	6018526	C	T	C6018526T	VWF	NM_000552.5(VWF):c.4892G>A:p.Gly1631Asp	coding	Pathogenic/Likely_pathogenic
12	6018594	G	A	G6018594A	VWF	NM_000552.5(VWF):c.4824C>T:p.Thr1608=	coding	Benign/Likely_benign
12	6018626	C	A	C6018626A	VWF	NM_000552.5(VWF):c.4792G>T:p.Glu1598Ter	coding	Pathogenic
12	6018666	G	T	G6018666T	VWF	NM_000552.5(VWF):c.4752C>A:p.Tyr1584Ter	coding	Pathogenic
12	6018685	G	T	G6018685T	VWF	NM_000552.5(VWF):c.4733C>A:p.Thr1578Asn	coding	Pathogenic
12	6018708	G	T	G6018708T	VWF	NM_000552.5(VWF):c.4710C>A:p.Tyr1570Ter	coding	Pathogenic
12	6018790	G	A	G6018790A	VWF	NM_000552.5(VWF):c.4628C>T:p.Ser1543Phe	coding	Pathogenic
12	6018792	G	C	G6018792C	VWF	NM_000552.5(VWF):c.4626C>G:p.Tyr1542Ter	coding	Pathogenic
12	6018901	G	A	G6018901A	VWF	NM_000552.5(VWF):c.4517C>T:p.Ser1506Leu	coding	Pathogenic/Likely_pathogenic
12	6019171	A	G	A6019171G	VWF	NM_000552.5(VWF):c.4247T>C:p.Ile1416Thr	coding	Pathogenic/Likely_pathogenic
12	6019313	A	T	A6019313T	VWF	NM_000552.5(VWF):c.4105T>A:p.Phe1369Ile	coding	Pathogenic/Likely_pathogenic
12	6019343	C	T	C6019343T	VWF	NM_000552.5(VWF):c.4075G>A:p.Glu1359Lys	coding	Pathogenic
12	6019382	G	A	G6019382A	VWF	NM_000552.5(VWF):c.4036C>T:p.Gln1346Ter	coding	Pathogenic
12	6019397	G	A	G6019397A	VWF	NM_000552.5(VWF):c.4021C>T:p.Arg1341Trp	coding	Pathogenic/Likely_pathogenic
12	6019474	C	A	C6019474A	VWF	NM_000552.5(VWF):c.3944G>T:p.Arg1315Leu	coding	Pathogenic
12	6019475	G	A	G6019475A	VWF	NM_000552.5(VWF):c.3943C>T:p.Arg1315Cys	coding	Pathogenic/Likely_pathogenic
12	6019498	A	G	A6019498G	VWF	NM_000552.5(VWF):c.3920T>C:p.Leu1307Pro	coding	Pathogenic
12	6019541	A	G	A6019541G	VWF	NM_000552.5(VWF):c.3877T>C:p.Phe1293Leu	coding	Pathogenic
12	6019555	A	C	A6019555C	VWF	NM_000552.5(VWF):c.3863T>G:p.Leu1288Arg	coding	Pathogenic/Likely_pathogenic
12	6019565	A	G	A6019565G	VWF	NM_000552.5(VWF):c.3853T>C:p.Ser1285Pro	coding	Pathogenic
12	6019818	T	C	T6019818C	VWF	NM_000552.5(VWF):c.3675-75A>G	noncoding	Benign
12	6022006	A	G	A6022006G	VWF	NM_000552.5(VWF):c.3568T>C:p.Cys1190Arg	coding	Pathogenic/Likely_pathogenic
12	6022792	T	C	T6022792C	VWF	NM_000552.5(VWF):c.3486A>G:p.Pro1162=	coding	Benign/Likely_benign
12	6022793	G	A	G6022793A	VWF	NM_000552.5(VWF):c.3485C>T:p.Pro1162Leu	coding	Benign/Likely_benign
12	6022811	G	A	G6022811A	VWF	NM_000552.5(VWF):c.3467C>T:p.Thr1156Met	coding	Pathogenic/Likely_pathogenic
12	6022888	G	A	G6022888A	VWF	NM_000552.5(VWF):c.3390C>T:p.Cys1130=	coding	Pathogenic/Likely_pathogenic
12	6022900	T	C	T6022900C	VWF	NM_000552.5(VWF):c.3380-2A>G	noncoding	Pathogenic
12	6023650	C	T	C6023650T	VWF	NM_000552.5(VWF):c.3360G>A:p.Trp1120Ter	coding	Pathogenic
12	6025623	C	T	C6025623T	VWF	NM_000552.5(VWF):c.3179G>A:p.Cys1060Tyr	coding	Pathogenic
12	6025904	A	C	A6025904C	VWF	NM_000552.5(VWF):c.3108+2T>G	noncoding	Pathogenic
12	6026060	T	C	T6026060C	VWF	NM_000552.5(VWF):c.2968-14A>G	noncoding	Pathogenic
12	6029407	T	A	T6029407A	VWF	NM_000552.5(VWF):c.2902A>T:p.Lys968Ter	coding	Pathogenic
12	6029409	C	T	C6029409T	VWF	NM_000552.5(VWF):c.2900G>A:p.Gly967Asp	coding	Benign/Likely_benign
12	6031511	G	C	G6031511C	VWF	NM_000552.5(VWF):c.2753C>G:p.Ser918Ter	coding	Pathogenic
12	6034689	T	C	T6034689C	VWF	NM_000552.5(VWF):c.2684A>G:p.Gln895Arg	coding	Pathogenic
12	6034839	A	T	A6034839T	VWF	NM_000552.5(VWF):c.2547-13T>A	noncoding	Pathogenic
12	6034998	T	C	T6034998C	VWF	NM_000552.5(VWF):c.2547-172A>G	noncoding	Benign
12	6035003	T	G	T6035003G	VWF	NM_000552.5(VWF):c.2547-177A>C	noncoding	Benign
12	6036424	G	T	G6036424T	VWF	NM_000552.5(VWF):c.2510C>A:p.Ala837Asp	coding	Benign
12	6036782	G	A	G6036782A	VWF	NM_000552.5(VWF):c.2443-291C>T	noncoding	Benign
12	6044303	G	T	G6044303T	VWF	NM_000552.5(VWF):c.2430C>A:p.Cys810Ter	coding	Pathogenic
12	6044356	G	A	G6044356A	VWF	NM_000552.5(VWF):c.2377C>T:p.Gln793Ter	coding	Pathogenic
12	6044361	G	A	G6044361A	VWF	NM_000552.5(VWF):c.2372C>T:p.Thr791Met	coding	Pathogenic/Likely_pathogenic
12	6044572	A	G	A6044572G	VWF	NM_000552.5(VWF):c.2282-121T>C	noncoding	Benign
12	6044573	C	T	C6044573T	VWF	NM_000552.5(VWF):c.2282-122G>A	noncoding	Benign
12	6044584	A	G	A6044584G	VWF	NM_000552.5(VWF):c.2282-133T>C	noncoding	Benign
12	6052613	G	A	G6052613A	VWF	NM_000552.5(VWF):c.2116C>T:p.Gln706Ter	coding	Pathogenic
12	6053009	T	C	T6053009C	VWF	NM_000552.5(VWF):c.1946-226A>G	noncoding	Benign
12	6056648	C	G	C6056648G	VWF	NM_000552.5(VWF):c.1945+209G>C	noncoding	Benign
12	6056872	C	A	C6056872A	VWF	NM_000552.5(VWF):c.1930G>T:p.Glu644Ter	coding	Pathogenic
12	6057073	C	A	C6057073A	VWF	NM_000552.5(VWF):c.1730-1G>T	coding	Pathogenic
12	6057885	G	A	G6057885A	VWF	NM_000552.5(VWF):c.1693C>T:p.Gln565Ter	coding	Pathogenic
12	6057919	C	T	C6057919T	VWF	NM_000552.5(VWF):c.1659G>A:p.Trp553Ter	coding	Pathogenic
12	6063182	C	A	C6063182A	VWF	NM_000552.5(VWF):c.1433-128G>T	noncoding	Benign
12	6063227	T	C	T6063227C	VWF	NM_000552.5(VWF):c.1433-173A>G	noncoding	Benign
12	6064358	G	T	G6064358T	VWF	NM_000552.5(VWF):c.1320C>A:p.Cys440Ter	coding	Pathogenic
12	6071323	C	T	C6071323T	VWF	NM_000552.5(VWF):c.1130G>A:p.Trp377Ter	coding	Pathogenic
12	6071337	G	T	G6071337T	VWF	NM_000552.5(VWF):c.1116C>A:p.Cys372Ter	coding	Pathogenic
12	6071344	C	A	C6071344A	VWF	NM_000552.5(VWF):c.1110-1G>T	coding	Pathogenic
12	6072347	G	A	G6072347A	VWF	NM_000552.5(VWF):c.1093C>T:p.Arg365Ter	coding	Pathogenic
12	6075543	C	T	C6075543T	VWF	NM_000552.5(VWF):c.666G>A:p.Trp222Ter	coding	Pathogenic
12	6095465	G	A	G6095465A	VWF	NM_000552.5(VWF):c.652C>T:p.Gln218Ter	coding	Pathogenic
12	6095471	C	A	C6095471A	VWF	NM_000552.5(VWF):c.646G>T:p.Glu216Ter	coding	Pathogenic
12	6110485	C	T	C6110485T	VWF	NM_000552.5(VWF):c.421G>A:p.Asp141Asn	coding	Pathogenic/Likely_pathogenic
12	6110865	C	A	C6110865A	VWF	NM_000552.5(VWF):c.323+1G>T	noncoding	Pathogenic
12	6110867	T	A	T6110867A	VWF	NM_000552.5(VWF):c.322A>T:p.Arg108Ter	coding	Pathogenic
12	6110879	G	A	G6110879A	VWF	NM_000552.5(VWF):c.310C>T:p.Gln104Ter	coding	Pathogenic
12	6110960	G	A	G6110960A	VWF	NM_000552.5(VWF):c.229C>T:p.Gln77Ter	coding	Pathogenic
12	6110970	T	G	T6110970G	VWF	NM_000552.5(VWF):c.221-2A>C	noncoding	Pathogenic
12	6121122	A	G	A6121122G	VWF	NM_000552.5(VWF):c.220+52T>C	noncoding	Benign
12	6121378	G	A	G6121378A	VWF	NM_000552.5(VWF):c.56-40C>T	noncoding	Benign
12	6123260	G	A	G6123260A	VWF	NM_000552.5(VWF):c.1-64C>T	noncoding	Benign
12	6329290	A	G	A6329290G	TNFRSF1A	NM_001065.4(TNFRSF1A):c.*22T>C	noncoding	Benign
12	6329638	C	T	C6329638T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.1058-16G>A	noncoding	Benign
12	6329653	C	T	C6329653T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.1058-31G>A	noncoding	Benign
12	6329680	C	A	C6329680A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.1058-58G>T	noncoding	Benign
12	6330046	A	G	A6330046G	TNFRSF1A	NM_001065.4(TNFRSF1A):c.789T>C:p.Thr263=	coding	Benign/Likely_benign
12	6330121	C	A	C6330121A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.769-55G>T	noncoding	Benign
12	6330122	C	A	C6330122A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.769-56G>T	noncoding	Benign
12	6330720	A	G	A6330720G	TNFRSF1A	NM_001065.4(TNFRSF1A):c.626-9T>C	noncoding	Benign
12	6333047	A	G	A6333047G	TNFRSF1A	NM_001065.4(TNFRSF1A):c.551+22T>C	noncoding	Benign
12	6333056	C	T	C6333056T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.551+13G>A	noncoding	Benign
12	6333180	A	G	A6333180G	TNFRSF1A	NM_001065.4(TNFRSF1A):c.473-33T>C	noncoding	Benign
12	6333219	C	T	C6333219T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.473-72G>A	noncoding	Benign
12	6333279	G	T	G6333279T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.472+88C>A	noncoding	Benign
12	6333303	G	A	G6333303A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.472+64C>T	noncoding	Benign
12	6333320	A	G	A6333320G	TNFRSF1A	NM_001065.4(TNFRSF1A):c.472+47T>C	noncoding	Benign
12	6333380	G	A	G6333380A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.459C>T:p.Thr153=	coding	Benign/Likely_benign
12	6333707	C	T	C6333707T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.322+30G>A	noncoding	Benign
12	6333753	G	C	G6333753C	TNFRSF1A	NM_001065.4(TNFRSF1A):c.306C>G:p.Cys102Trp	coding	Pathogenic
12	6333840	T	C	T6333840C	TNFRSF1A	NM_001065.4(TNFRSF1A):c.219A>G:p.Pro73=	coding	Benign
12	6333894	C	T	C6333894T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.194-29G>A	noncoding	Benign
12	6333897	G	A	G6333897A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.194-32C>T	noncoding	Benign
12	6333944	C	T	C6333944T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.194-79G>A	noncoding	Benign
12	6333966	G	A	G6333966A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.194-101C>T	noncoding	Benign
12	6333976	G	T	G6333976T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.194-111C>A	noncoding	Benign
12	6333990	C	T	C6333990T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.193+101G>A	noncoding	Benign
12	6334072	C	T	C6334072T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.193+19G>A	noncoding	Benign
12	6334085	C	T	C6334085T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.193+6G>A	noncoding	Benign/Likely_benign
12	6334111	C	A	C6334111A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.173G>T:p.Cys58Phe	coding	Pathogenic
12	6334133	G	A	G6334133A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.151C>T:p.His51Tyr	coding	Pathogenic
12	6334137	A	G	A6334137G	TNFRSF1A	NM_001065.4(TNFRSF1A):c.147T>C:p.Tyr49=	coding	Benign/Likely_benign
12	6341800	G	A	G6341800A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.15C>T:p.Thr5=	coding	Benign
12	6341869	C	A	C6341869A	TNFRSF1A	NM_001065.4(TNFRSF1A):c.-55G>T	noncoding	Benign
12	6346794	G	A	G6346794A	SCNN1A	Single_allele	noncoding	Benign
12	6348664	C	T	C6348664T	SCNN1A	NM_001038.6(SCNN1A):c.1629+63G>A	noncoding	Benign
12	6348670	C	A	C6348670A	SCNN1A	NM_001038.6(SCNN1A):c.1629+57G>T	noncoding	Benign
12	6348676	T	C	T6348676C	SCNN1A	NM_001038.6(SCNN1A):c.1629+51A>G	noncoding	Benign
12	6348877	C	T	C6348877T	SCNN1A	NM_001038.6(SCNN1A):c.1553+73G>A	noncoding	Benign
12	6348918	C	T	C6348918T	SCNN1A	NM_001038.6(SCNN1A):c.1553+32G>A	noncoding	Benign
12	6349108	G	C	G6349108C	SCNN1A	NM_001038.6(SCNN1A):c.1497+56C>G	noncoding	Benign
12	6349407	T	C	T6349407C	SCNN1A	NM_001038.6(SCNN1A):c.1361-2A>G	noncoding	Pathogenic
12	6349537	G	A	G6349537A	SCNN1A	NM_001038.6(SCNN1A):c.1361-132C>T	noncoding	Benign
12	6354179	C	T	C6354179T	SCNN1A	NM_001038.6(SCNN1A):c.1360+259G>A	noncoding	Benign
12	6354436	A	C	A6354436C	SCNN1A	NM_001038.6(SCNN1A):c.1360+2T>G	noncoding	Pathogenic
12	6354696	G	A	G6354696A	SCNN1A	NM_001038.6(SCNN1A):c.1242+54C>T	noncoding	Benign
12	6355618	G	A	G6355618A	SCNN1A	NM_001038.6(SCNN1A):c.979+159C>T	noncoding	Benign
12	6361758	C	A	C6361758A	SCNN1A	NM_001038.6(SCNN1A):c.875+293G>T	noncoding	Benign
12	6361905	C	A	C6361905A	SCNN1A	NM_001038.6(SCNN1A):c.875+146G>T	noncoding	Benign
12	6363805	C	T	C6363805T	SCNN1A	NM_001038.6(SCNN1A):c.417-95G>A	noncoding	Benign
12	6363864	C	A	C6363864A	SCNN1A	NM_001038.6(SCNN1A):c.417-154G>T	noncoding	Benign
12	6374297	T	C	T6374297C	SCNN1A	NM_001038.6(SCNN1A):c.416+71A>G	noncoding	Benign
12	6377358	T	C	T6377358C	SCNN1A	NM_001159575.2(SCNN1A):c.-92A>G	coding	Benign
12	6377490	T	C	T6377490C	SCNN1A	NM_001270987.2(LTBR):c.39+1896T>C	noncoding	Benign
12	6444626	C	G	C6444626G	CD27	Single_allele	noncoding	Benign
12	6444640	G	A	G6444640A	CD27	Single_allele	noncoding	Benign
12	6444694	A	G	A6444694G	CD27	Single_allele	noncoding	Benign
12	6445263	G	C	G6445263C	CD27	NM_001242.5(CD27):c.136+32G>C	noncoding	Benign
12	6445462	G	A	G6445462A	CD27	NM_001242.5(CD27):c.175G>A:p.Ala59Thr	coding	Benign
12	6462882	A	G	A6462882G	VAMP1	NM_014231.5(VAMP1):c.*1588T>C	coding	Benign
12	6463025	T	C	T6463025C	VAMP1	NM_014231.5(VAMP1):c.*1445A>G	coding	Benign
12	6464550	T	C	T6464550C	VAMP1	NM_014231.5(VAMP1):c.341-64A>G	coding	Benign
12	6464551	G	A	G6464551A	VAMP1	NM_014231.5(VAMP1):c.341-65C>T	coding	Benign
12	6464583	C	T	C6464583T	VAMP1	NM_014231.5(VAMP1):c.341-97G>A	coding	Benign
12	6464690	G	T	G6464690T	VAMP1	NM_014231.5(VAMP1):c.340+200C>A	coding	Benign
12	6464744	C	T	C6464744T	VAMP1	NM_014231.5(VAMP1):c.340+146G>A	coding	Benign
12	6464954	G	A	G6464954A	VAMP1	NM_014231.5(VAMP1):c.289-13C>T	noncoding	Benign
12	6465135	G	T	G6465135T	VAMP1	NM_014231.5(VAMP1):c.289-194C>A	noncoding	Benign
12	6465827	G	A	G6465827A	VAMP1	NM_014231.5(VAMP1):c.288+15C>T	noncoding	Benign
12	6465878	G	T	G6465878T	VAMP1	NM_014231.5(VAMP1):c.252C>A:p.Ala84=	coding	Benign
12	6466025	A	T	A6466025T	VAMP1	NM_014231.5(VAMP1):c.130-25T>A	noncoding	Benign
12	6466257	G	A	G6466257A	VAMP1	NM_014231.5(VAMP1):c.97C>T:p.Arg33Ter	coding	Pathogenic
12	6470399	A	G	A6470399G	VAMP1	NM_014231.5(VAMP1):c.2+131T>C	noncoding	Benign
12	6470646	T	C	T6470646C	VAMP1	NM_014231.5(VAMP1):c.-115A>G	noncoding	Benign
12	6495252	C	T	C6495252T	NCAPD2	NM_014865.4(NCAPD2):c.127+27C>T	noncoding	Benign
12	6510118	C	G	C6510118G	NCAPD2	NM_014865.4(NCAPD2):c.247C>G:p.Gln83Glu	coding	Benign
12	6522003	C	A	C6522003A	NCAPD2	NM_014865.4(NCAPD2):c.1920C>A:p.Ile640=	coding	Benign
12	6526401	A	T	A6526401T	NCAPD2	NM_014865.4(NCAPD2):c.2566+30A>T	noncoding	Benign
12	6528679	T	C	T6528679C	NCAPD2	NM_014865.4(NCAPD2):c.3300T>C:p.Arg1100=	coding	Benign
12	6528950	C	T	C6528950T	NCAPD2	NM_014865.4(NCAPD2):c.3483C>T:p.Asn1161=	coding	Benign
12	6529500	C	T	C6529500T	NCAPD2	NM_014865.4(NCAPD2):c.3573-13C>T	noncoding	Benign
12	6529922	A	G	A6529922G	NCAPD2	NM_014865.4(NCAPD2):c.3801A>G:p.Val1267=	coding	Benign
12	6530815	C	G	C6530815G	NCAPD2	NM_014865.4(NCAPD2):c.3962C>G:p.Thr1321Ser	coding	Benign
12	6530819	T	C	T6530819C	NCAPD2	NM_014865.4(NCAPD2):c.3964+2T>C	noncoding	Pathogenic
12	6534825	C	G	C6534825G	GAPDH	NM_002046.7(GAPDH):c.-8C>G	noncoding	Benign
12	6570710	G	A	G6570710A	CHD4	NM_001273.5(CHD4):c.5722-17C>T	noncoding	Benign
12	6581720	G	A	G6581720A	CHD4	NM_001273.5(CHD4):c.4610C>T:p.Ser1537Phe	coding	Benign
12	6581743	C	T	C6581743T	CHD4	NM_001273.5(CHD4):c.4587G>A:p.Lys1529=	coding	Benign
12	6582286	G	A	G6582286A	CHD4	NM_001273.5(CHD4):c.4371-5C>T	noncoding	Benign
12	6587491	G	A	G6587491A	CHD4	NM_001273.5(CHD4):c.3772C>T:p.Leu1258=	coding	Benign
12	6587885	C	T	C6587885T	CHD4	NM_001273.5(CHD4):c.3530G>A:p.Arg1177His	coding	Pathogenic
12	6591526	C	T	C6591526T	CHD4	NM_001273.5(CHD4):c.3280G>A:p.Glu1094Lys	coding	Pathogenic
12	6593533	T	G	T6593533G	CHD4	NM_001273.5(CHD4):c.2397A>C:p.Pro799=	coding	Benign
12	6597938	C	T	C6597938T	CHD4	NM_001273.5(CHD4):c.1848G>A:p.Gly616=	coding	Benign
12	6597986	G	A	G6597986A	CHD4	NM_001273.5(CHD4):c.1800C>T:p.Asn600=	coding	Benign
12	6598360	G	A	G6598360A	CHD4	NM_001273.5(CHD4):c.1548C>T:p.Pro516=	coding	Benign
12	6598430	G	A	G6598430A	CHD4	NM_001273.5(CHD4):c.1483-5C>T	noncoding	Benign
12	6599893	G	A	G6599893A	CHD4	NM_001273.5(CHD4):c.1362C>T:p.Val454=	coding	Benign
12	6600551	G	A	G6600551A	CHD4	NM_001273.5(CHD4):c.1046C>T:p.Thr349Ile	coding	Benign
12	6601271	A	G	A6601271G	CHD4	NM_001273.5(CHD4):c.799+18T>C	noncoding	Benign
12	6601957	C	T	C6601957T	CHD4	NM_001273.5(CHD4):c.438+3G>A	noncoding	Benign
12	6601981	C	A	C6601981A	CHD4	NM_001273.5(CHD4):c.417G>T:p.Glu139Asp	coding	Benign
12	6602187	C	T	C6602187T	CHD4	NM_001273.5(CHD4):c.223-12G>A	noncoding	Benign
12	6606256	C	T	C6606256T	CHD4	NM_001273.5(CHD4):c.100+18G>A	noncoding	Benign
12	6606287	G	C	G6606287C	CHD4	NM_001273.5(CHD4):c.87C>G:p.Pro29=	coding	Benign
12	6606361	G	A	G6606361A	CHD4	NM_001273.5(CHD4):c.13C>T:p.Leu5=	coding	Benign
12	6800139	A	G	A6800139G	CD4	NM_000616.5(CD4):c.1A>G:p.Met1Val	coding	Pathogenic
12	6800222	A	G	A6800222G	CD4	NM_000616.5(CD4):c.49+35A>G	noncoding	Benign
12	6816241	C	T	C6816241T	CD4	NM_000616.5(CD4):c.793C>T:p.Arg265Trp	coding	Benign
12	6817197	T	C	T6817197C	CD4	NM_000616.5(CD4):c.1023T>C:p.Ser341=	coding	Benign
12	6818420	G	A	G6818420A	CD4	NM_000616.5(CD4):c.1157-1G>A	noncoding	Pathogenic
12	6818909	T	C	T6818909C	CD4	NM_000616.5(CD4):c.1341T>C:p.Cys447=	coding	Benign
12	6818969	T	G	T6818969G	CD4	NM_000616.5(CD4):c.1346+55T>G	noncoding	Benign
12	6819420	C	A	C6819420A	CD4	NM_000616.5(CD4):c.*91C>A	noncoding	Benign
12	6819421	A	G	A6819421G	CD4	NM_000616.5(CD4):c.*92A>G	noncoding	Benign
12	6841239	G	A	G6841239A	GNB3	NM_002075.4(GNB3):c.-30-19G>A	noncoding	Benign
12	6843014	G	A	G6843014A	GNB3	NM_002075.4(GNB3):c.141G>A:p.Thr47=	coding	Benign
12	6843087	G	C	G6843087C	GNB3	NM_002075.4(GNB3):c.203+11G>C	noncoding	Benign
12	6843996	C	A	C6843996A	GNB3	NM_002075.4(GNB3):c.699+18C>A	noncoding	Benign
12	6844093	A	C	A6844093C	GNB3	NM_002075.4(GNB3):c.699+115A>C	noncoding	Benign
12	6844093	A	T	A6844093T	GNB3	NM_002075.4(GNB3):c.699+115A>T	noncoding	Benign/Likely_benign
12	6844094	T	C	T6844094C	GNB3	NM_002075.4(GNB3):c.699+116T>C	noncoding	Benign
12	6845576	G	A	G6845576A	GNB3	NM_002075.4(GNB3):c.700-10G>A	noncoding	Benign
12	6845627	C	T	C6845627T	GNB3	NM_002075.4(GNB3):c.741C>T:p.Asp247_Ala248=	coding	Benign
12	6845648	C	T	C6845648T	GNB3	NM_002075.4(GNB3):c.762C>T:p.Asp254_Leu255=	coding	Benign
12	6845700	G	A	G6845700A	GNB3	NM_002075.4(GNB3):c.814G>A:p.Gly272Ser	coding	Benign
12	6845711	C	T	C6845711T	GNB3	NM_002075.4(GNB3):c.825C>T:p.Ser275_Val276=	coding	Benign
12	6845738	A	G	A6845738G	GNB3	NM_002075.4(GNB3):c.852A>G:p.Leu284_Leu285=	coding	Benign
12	6846697	A	C	A6846697C	GNB3	NM_002075.4(GNB3):c.917-95A>C	noncoding	Benign
12	6846701	C	A	C6846701A	GNB3	NM_002075.4(GNB3):c.917-91C>A	noncoding	Benign
12	6847016	C	T	C6847016T	GNB3	NM_002075.4(GNB3):c.*118C>T	coding	Benign
12	6867521	G	A	G6867521A	TPI1	NM_001159287.1(TPI1):c.66G>A:p.Pro22_Arg23=	coding	Benign/Likely_benign
12	6867905	T	C	T6867905C	TPI1	NM_000365.6(TPI1):c.115+224T>C	noncoding	Benign
12	6868851	A	G	A6868851G	TPI1	NM_000365.6(TPI1):c.116-13A>G	noncoding	Benign/Likely_benign
12	6868852	T	C	T6868852C	TPI1	NM_000365.6(TPI1):c.116-12T>C	noncoding	Benign/Likely_benign
12	6869846	G	A	G6869846A	TPI1	NM_000365.6(TPI1):c.543+73G>A	noncoding	Benign
12	6935780	G	A	G6935780A	ATN1	NM_001940.4(ATN1):c.513G>A:p.Pro171=	coding	Benign
12	6936015	G	A	G6936015A	ATN1	NM_001940.4(ATN1):c.748G>A:p.Gly250Ser	coding	Benign
12	6937132	C	G	C6937132G	ATN1	NM_001940.4(ATN1):c.1865C>G:p.Ala622Gly	coding	Benign
12	6937235	A	C	A6937235C	ATN1	NM_001940.4(ATN1):c.1968A>C:p.Gly656_Tyr657=	coding	Benign
12	6937980	C	A	C6937980A	ATN1	NM_001940.4(ATN1):c.2430C>A:p.Arg810=	coding	Benign
12	6939118	A	C	A6939118C	ATN1	NM_001940.4(ATN1):c.3155A>C:p.His1052Pro	coding	Pathogenic/Likely_pathogenic
12	6943811	C	T	C6943811T	C12orf57	NM_001301834.1(C12orf57):c.-16+149C>T	noncoding	Benign
12	6943815	G	A	G6943815A	C12orf57	NM_001301834.1(C12orf57):c.-16+153G>A	noncoding	Benign
12	6943843	C	T	C6943843T	RNU7-1	NM_138425.3(C12orf57):c.-279C>T	coding	Pathogenic
12	6943850	G	A	G6943850A	RNU7-1	NM_138425.3(C12orf57):c.-272G>A	coding	Pathogenic
12	6943856	T	G	T6943856G	RNU7-1	NM_138425.3(C12orf57):c.-266T>G	coding	Pathogenic
12	6943859	C	T	C6943859T	C12orf57	NM_138425.3(C12orf57):c.-263C>T	coding	Benign
12	6943863	T	C	T6943863C	C12orf57	NM_138425.3(C12orf57):c.-259T>C	coding	Benign
12	6943922	A	G	A6943922G	C12orf57	NM_138425.3(C12orf57):c.-200A>G	coding	Benign
12	6943933	T	C	T6943933C	C12orf57	NM_138425.3(C12orf57):c.-189T>C	coding	Benign
12	6943958	G	A	G6943958A	C12orf57	NM_138425.3(C12orf57):c.-164G>A	coding	Benign
12	6943986	A	C	A6943986C	C12orf57	NM_138425.3(C12orf57):c.-136A>C	coding	Benign
12	6944052	T	G	T6944052G	C12orf57	NM_138425.4(C12orf57):c.-70T>G	coding	Benign
12	6944199	A	G	A6944199G	C12orf57	NM_138425.4(C12orf57):c.52+26A>G	noncoding	Benign
12	6944607	C	T	C6944607T	C12orf57	NM_138425.4(C12orf57):c.184C>T:p.Gln62Ter	coding	Pathogenic/Likely_pathogenic
12	6944745	C	T	C6944745T	C12orf57	NM_138425.4(C12orf57):c.229+93C>T	noncoding	Benign
12	6944797	C	T	C6944797T	C12orf57	NM_138425.4(C12orf57):c.229+145C>T	noncoding	Benign
12	6945696	G	A	G6945696A	C12orf57	NM_138425.4(C12orf57):c.230-75G>A	noncoding	Benign
12	6946217	G	A	G6946217A	C12orf57	Single_allele	noncoding	Benign
12	6974359	A	C	A6974359C	EMG1	NM_006331.8(EMG1):c.189A>C:p.Leu63=	coding	Benign
12	7062058	C	T	C7062058T	C1S	NM_001734.5(C1S):c.5+141C>T	noncoding	Benign
12	7062357	C	T	C7062357T	C1S	NM_001734.5(C1S):c.6-118C>T	noncoding	Benign
12	7062873	T	G	T7062873G	C1S	NM_001734.5(C1S):c.214-17T>G	noncoding	Benign
12	7063032	G	A	G7063032A	C1S	NM_001734.5(C1S):c.356G>A:p.Arg119His	coding	Benign
12	7063074	C	T	C7063074T	C1S	NM_001734.5(C1S):c.391+7C>T	noncoding	Benign
12	7064203	A	G	A7064203G	C1S	NM_001734.5(C1S):c.392-64A>G	noncoding	Benign
12	7064590	C	T	C7064590T	C1S	NM_001734.5(C1S):c.517+198C>T	noncoding	Benign
12	7064937	C	T	C7064937T	C1S	NM_001734.5(C1S):c.518-163C>T	noncoding	Benign
12	7065143	T	A	T7065143A	C1S	NM_001734.5(C1S):c.561T>A:p.Ile187=	coding	Benign
12	7065598	A	G	A7065598G	C1S	NM_001734.5(C1S):c.718-219A>G	noncoding	Benign
12	7067466	A	G	A7067466G	C1S	NM_001734.5(C1S):c.1067-177A>G	noncoding	Benign
12	7068568	T	C	T7068568C	C1S	NM_001734.5(C1S):c.1270+38T>C	noncoding	Benign
12	7069674	C	T	C7069674T	C1S	NM_001734.5(C1S):c.1271-181C>T	noncoding	Benign
12	7070121	G	T	G7070121T	C1S	NM_001734.5(C1S):c.1537G>T:p.Gly513Ter	coding	Pathogenic
12	7070261	C	T	C7070261T	C1S	NM_001734.5(C1S):c.1677C>T:p.Leu559=	coding	Benign
12	7070715	G	T	G7070715T	C1S	NM_001734.5(C1S):c.*64G>T	noncoding	Benign
12	7081258	G	T	G7081258T	C1R	NM_001733.7(C1R):c.1392C>A:p.Ile464=	coding	Benign
12	7088459	A	G	A7088459G	C1R	NM_001733.7(C1R):c.1038+151T>C	noncoding	Benign
12	7088532	A	G	A7088532G	C1R	NM_001733.7(C1R):c.1038+78T>C	noncoding	Benign
12	7088615	T	G	T7088615G	C1R	NM_001733.7(C1R):c.1033A>C:p.Ile345Leu	coding	Benign
12	7088974	C	T	C7088974T	C1R	NM_001733.7(C1R):c.781G>A:p.Gly261Arg	coding	Benign
12	7089608	C	T	C7089608T	C1R	NM_001733.7(C1R):c.550G>A:p.Glu184Lys	coding	Benign
12	7090267	G	T	G7090267T	C1R	NM_001733.7(C1R):c.232-19C>A	noncoding	Benign
12	7090354	A	G	A7090354G	C1R	NM_001733.7(C1R):c.232-106T>C	noncoding	Benign
12	7090357	A	G	A7090357G	C1R	NM_001733.7(C1R):c.232-109T>C	noncoding	Benign
12	7090444	C	T	C7090444T	C1R	NM_001733.7(C1R):c.232-196G>A	noncoding	Benign
12	7092360	A	T	A7092360T	C1R	NM_001733.7(C1R):c.2+27T>A	noncoding	Benign
12	7092366	T	G	T7092366G	C1R	NM_001733.7(C1R):c.2+21A>C	noncoding	Benign
12	7190262	G	A	G7190262A	PEX5	NM_001351132.2(PEX5):c.-16-100G>A	noncoding	Benign
12	7190496	G	A	G7190496A	PEX5	NM_001351132.2(PEX5):c.119G>A:p.Trp40Ter	coding	Pathogenic
12	7190557	A	G	A7190557G	PEX5	NM_001351132.2(PEX5):c.147+33A>G	coding	Benign/Likely_benign
12	7191633	T	C	T7191633C	PEX5	NM_001351132.2(PEX5):c.381T>C:p.Asp127=	coding	Benign
12	7199184	C	T	C7199184T	PEX5	NM_001351132.2(PEX5):c.551+71C>T	noncoding	Benign
12	7199247	T	C	T7199247C	PEX5	NM_001351132.2(PEX5):c.551+134T>C	noncoding	Benign
12	7201751	G	A	G7201751A	PEX5	NM_001351132.2(PEX5):c.552G>A:p.Trp184Ter	coding	Pathogenic
12	7201782	C	T	C7201782T	PEX5	NM_001351132.2(PEX5):c.583C>T:p.Gln195Ter	coding	Pathogenic
12	7203193	G	A	G7203193A	PEX5	NM_001351132.2(PEX5):c.847-239G>A	noncoding	Benign
12	7203194	C	A	C7203194A	PEX5	NM_001351132.2(PEX5):c.847-238C>A	noncoding	Benign
12	7203198	G	A	G7203198A	PEX5	NM_001351132.2(PEX5):c.847-234G>A	noncoding	Benign
12	7203199	C	A	C7203199A	PEX5	NM_001351132.2(PEX5):c.847-233C>A	noncoding	Benign
12	7203203	G	A	G7203203A	PEX5	NM_001351132.2(PEX5):c.847-229G>A	noncoding	Benign
12	7203204	C	A	C7203204A	PEX5	NM_001351132.2(PEX5):c.847-228C>A	noncoding	Benign
12	7203208	G	A	G7203208A	PEX5	NM_001351132.2(PEX5):c.847-224G>A	noncoding	Benign
12	7203209	C	A	C7203209A	PEX5	NM_001351132.2(PEX5):c.847-223C>A	noncoding	Benign
12	7203213	G	A	G7203213A	PEX5	NM_001351132.2(PEX5):c.847-219G>A	noncoding	Benign
12	7203214	C	A	C7203214A	PEX5	NM_001351132.2(PEX5):c.847-218C>A	noncoding	Benign
12	7203218	G	A	G7203218A	PEX5	NM_001351132.2(PEX5):c.847-214G>A	noncoding	Benign
12	7203219	C	A	C7203219A	PEX5	NM_001351132.2(PEX5):c.847-213C>A	noncoding	Benign
12	7203229	C	G	C7203229G	PEX5	NM_001351132.2(PEX5):c.847-203C>G	noncoding	Benign
12	7203302	C	G	C7203302G	PEX5	NM_001351132.2(PEX5):c.847-130C>G	noncoding	Benign
12	7203767	C	T	C7203767T	PEX5	NM_001351132.2(PEX5):c.966+216C>T	noncoding	Benign
12	7203883	G	A	G7203883A	PEX5	NM_001351132.2(PEX5):c.966+332G>A	noncoding	Benign
12	7207547	C	A	C7207547A	PEX5	NM_001351132.2(PEX5):c.967-112C>A	noncoding	Benign
12	7207926	C	T	C7207926T	PEX5	NM_001351132.2(PEX5):c.1111-84C>T	noncoding	Benign
12	7208296	T	C	T7208296C	PEX5	NM_001351132.2(PEX5):c.1182-161T>C	noncoding	Benign
12	7208530	C	T	C7208530T	PEX5	NM_001351132.2(PEX5):c.1255C>T:p.Gln419Ter	coding	Pathogenic
12	7208533	C	T	C7208533T	PEX5	NM_001351132.2(PEX5):c.1258C>T:p.Arg420Ter	coding	Pathogenic
12	7209233	T	C	T7209233C	PEX5	NM_001351132.2(PEX5):c.1560+63T>C	noncoding	Benign
12	7209696	G	A	G7209696A	PEX5	NM_001351132.2(PEX5):c.1574G>A:p.Trp525Ter	coding	Pathogenic
12	7209853	A	G	A7209853G	PEX5	NM_001351132.2(PEX5):c.1718+13A>G	noncoding	Benign/Likely_benign
12	7209933	C	T	C7209933T	PEX5	NM_001351132.2(PEX5):c.1719-89C>T	noncoding	Benign
12	7496888	T	C	T7496888C	CD163	NM_203416.4(CD163):c.1024A>G:p.Ile342Val	coding	Benign
12	7690059	A	G	A7690059G	GDF3	NM_020634.3(GDF3):c.914T>C:p.Leu305Pro	coding	Benign
12	7690336	C	T	C7690336T	GDF3	NM_020634.3(GDF3):c.637G>A:p.Gly213Arg	coding	Benign
12	7690394	G	A	G7690394A	GDF3	NM_020634.3(GDF3):c.579C>T:p.Asn193=	coding	Benign
12	7690777	C	T	C7690777T	GDF3	NM_020634.3(GDF3):c.269-73G>A	noncoding	Benign
12	7695344	C	T	C7695344T	GDF3	NM_020634.3(GDF3):c.268+117G>A	noncoding	Benign
12	7695606	G	C	G7695606C	GDF3	NM_020634.3(GDF3):c.123C>G:p.Pro41=	coding	Benign
12	7695841	C	T	C7695841T	GDF3	Single_allele	noncoding	Benign
12	7696031	C	T	C7696031T	GDF3	Single_allele	noncoding	Benign
12	8092803	A	G	A8092803G	NECAP1	NM_015509.4(NECAP1):c.492+19A>G	noncoding	Benign
12	8604313	G	A	G8604313A	AICDA	NM_020661.4(AICDA):c.568C>T:p.Arg190Ter	coding	Pathogenic/Likely_pathogenic
12	8604697	A	C	A8604697C	AICDA	NM_020661.4(AICDA):c.543+110T>G	noncoding	Benign
12	8604940	G	A	G8604940A	AICDA	NM_020661.4(AICDA):c.428-18C>T	noncoding	Benign
12	8605382	C	G	C8605382G	AICDA	NM_020661.4(AICDA):c.260G>C:p.Cys87Ser	coding	Pathogenic/Likely_pathogenic
12	8607340	C	T	C8607340T	AICDA	NM_020661.4(AICDA):c.9-328G>A	noncoding	Benign
12	8647970	A	G	A8647970G	MFAP5	NM_003480.4(MFAP5):c.*121T>C	noncoding	Benign
12	8648221	C	T	C8648221T	MFAP5	NM_003480.4(MFAP5):c.410-18G>A	noncoding	Benign/Likely_benign
12	8649412	G	A	G8649412A	MFAP5	NM_003480.4(MFAP5):c.409+89C>T	noncoding	Benign
12	8649836	A	G	A8649836G	MFAP5	NM_003480.4(MFAP5):c.336-262T>C	noncoding	Benign
12	8650260	C	T	C8650260T	MFAP5	NM_003480.4(MFAP5):c.335+242G>A	noncoding	Benign
12	8650278	C	T	C8650278T	MFAP5	NM_003480.4(MFAP5):c.335+224G>A	noncoding	Benign
12	8650366	C	A	C8650366A	MFAP5	NM_003480.4(MFAP5):c.335+136G>T	noncoding	Benign
12	8650639	T	C	T8650639C	MFAP5	NM_003480.4(MFAP5):c.248-50A>G	noncoding	Benign
12	8651386	C	T	C8651386T	MFAP5	NM_003480.4(MFAP5):c.247+276G>A	noncoding	Benign
12	8651541	T	C	T8651541C	MFAP5	NM_003480.4(MFAP5):c.247+121A>G	noncoding	Benign
12	8651976	C	A	C8651976A	MFAP5	NM_003480.4(MFAP5):c.218-285G>T	noncoding	Benign
12	8654154	A	G	A8654154G	MFAP5	NM_003480.4(MFAP5):c.217+283T>C	noncoding	Benign
12	8654599	T	C	T8654599C	MFAP5	NM_003480.4(MFAP5):c.173-118A>G	noncoding	Benign
12	8654792	G	A	G8654792A	MFAP5	NM_003480.4(MFAP5):c.173-311C>T	noncoding	Benign
12	8655107	G	A	G8655107A	MFAP5	NM_003480.4(MFAP5):c.172+308C>T	noncoding	Benign
12	8655147	G	A	G8655147A	MFAP5	NM_003480.4(MFAP5):c.172+268C>T	noncoding	Benign
12	8655931	T	G	T8655931G	MFAP5	NM_003480.4(MFAP5):c.95-101A>C	noncoding	Benign
12	8656034	C	T	C8656034T	MFAP5	NM_003480.4(MFAP5):c.95-204G>A	noncoding	Benign
12	8662103	A	G	A8662103G	MFAP5	NM_003480.4(MFAP5):c.2T>C:p.Met1Thr	coding	Pathogenic
12	8662802	C	G	C8662802G	MFAP5	NM_003480.4(MFAP5):c.-178G>C	noncoding	Benign
12	8662835	A	G	A8662835G	MFAP5	Single_allele	noncoding	Benign
12	8823178	A	G	A8823178G	A2ML1	NM_144670.6(A2ML1):c.63-4A>G	noncoding	Benign/Likely_benign
12	8823224	C	T	C8823224T	A2ML1	NM_144670.6(A2ML1):c.105C>T:p.Ser35=	coding	Benign/Likely_benign
12	8829798	A	G	A8829798G	A2ML1	NM_144670.6(A2ML1):c.462+19A>G	noncoding	Benign
12	8829909	C	T	C8829909T	A2ML1	NM_144670.6(A2ML1):c.462+130C>T	noncoding	Benign
12	8834821	A	G	A8834821G	A2ML1	NM_144670.6(A2ML1):c.483+139A>G	noncoding	Benign
12	8835475	C	T	C8835475T	A2ML1	NM_144670.6(A2ML1):c.484-32C>T	noncoding	Benign
12	8836068	A	G	A8836068G	A2ML1	NM_144670.6(A2ML1):c.644-187A>G	noncoding	Benign
12	8837575	A	G	A8837575G	A2ML1	NM_144670.6(A2ML1):c.855+9A>G	noncoding	Benign/Likely_benign
12	8838367	T	C	T8838367C	A2ML1	NM_144670.6(A2ML1):c.887T>C:p.Val296Ala	coding	Benign/Likely_benign
12	8838934	A	G	A8838934G	A2ML1	NM_144670.6(A2ML1):c.971-179A>G	noncoding	Benign
12	8841525	G	A	G8841525A	A2ML1	NM_144670.6(A2ML1):c.1237G>A:p.Val413Ile	coding	Benign/Likely_benign
12	8841582	T	A	T8841582A	A2ML1	NM_144670.6(A2ML1):c.1248+46T>A	noncoding	Benign
12	8843090	G	A	G8843090A	A2ML1	NM_144670.6(A2ML1):c.1249-44G>A	noncoding	Benign
12	8843098	A	G	A8843098G	A2ML1	NM_144670.6(A2ML1):c.1249-36A>G	noncoding	Benign
12	8843213	G	A	G8843213A	A2ML1	NM_144670.6(A2ML1):c.1328G>A:p.Arg443Gln	coding	Benign/Likely_benign
12	8845442	T	C	T8845442C	A2ML1	NM_144670.6(A2ML1):c.1477T>C:p.Leu493=	coding	Benign/Likely_benign
12	8845524	G	A	G8845524A	A2ML1	NM_144670.6(A2ML1):c.1537+22G>A	noncoding	Benign
12	8845861	A	T	A8845861T	A2ML1	NM_144670.6(A2ML1):c.1538-216A>T	noncoding	Benign
12	8846064	T	A	T8846064A	A2ML1	NM_144670.6(A2ML1):c.1538-13T>A	noncoding	Benign/Likely_benign
12	8846141	G	C	G8846141C	A2ML1	NM_144670.6(A2ML1):c.1602G>C:p.Leu534=	coding	Benign/Likely_benign
12	8847367	C	T	C8847367T	A2ML1	NM_144670.6(A2ML1):c.1684-182C>T	noncoding	Benign
12	8847640	G	A	G8847640A	A2ML1	NM_144670.6(A2ML1):c.1775G>A:p.Arg592Gln	coding	Benign/Likely_benign
12	8849801	C	T	C8849801T	A2ML1	NM_144670.6(A2ML1):c.2119+42C>T	noncoding	Benign
12	8850290	A	G	A8850290G	A2ML1	NM_144670.6(A2ML1):c.2234+16A>G	noncoding	Benign
12	8851746	G	A	G8851746A	A2ML1	NM_144670.6(A2ML1):c.2235-38G>A	noncoding	Benign
12	8852296	C	A	C8852296A	A2ML1	NM_144670.6(A2ML1):c.2550C>A:p.Asp850Glu	coding	Benign
12	8852355	A	G	A8852355G	A2ML1	NM_144670.6(A2ML1):c.2590+19A>G	noncoding	Benign
12	8854213	C	T	C8854213T	A2ML1	NM_144670.6(A2ML1):c.2676C>T:p.Gly892=	coding	Benign/Likely_benign
12	8854565	T	G	T8854565G	A2ML1	NM_144670.6(A2ML1):c.2713-215T>G	noncoding	Benign
12	8855488	C	A	C8855488A	A2ML1	NM_144670.6(A2ML1):c.2765-21C>A	noncoding	Benign
12	8855585	G	A	G8855585A	A2ML1	NM_144670.6(A2ML1):c.2841G>A:p.Thr947=	coding	Benign/Likely_benign
12	8855681	C	T	C8855681T	A2ML1	NM_144670.6(A2ML1):c.2848+89C>T	noncoding	Benign
12	8855691	A	G	A8855691G	A2ML1	NM_144670.6(A2ML1):c.2848+99A>G	noncoding	Benign
12	8855695	A	G	A8855695G	A2ML1	NM_144670.6(A2ML1):c.2848+103A>G	noncoding	Benign
12	8856966	G	A	G8856966A	A2ML1	NM_144670.6(A2ML1):c.2849-198G>A	noncoding	Benign
12	8857011	G	T	G8857011T	A2ML1	NM_144670.6(A2ML1):c.2849-153G>T	noncoding	Benign
12	8857041	C	T	C8857041T	A2ML1	NM_144670.6(A2ML1):c.2849-123C>T	noncoding	Benign
12	8857135	T	C	T8857135C	A2ML1	NM_144670.6(A2ML1):c.2849-29T>C	noncoding	Benign
12	8857177	C	G	C8857177G	A2ML1	NM_144670.6(A2ML1):c.2862C>G:p.Gly954=	coding	Benign/Likely_benign
12	8857454	G	A	G8857454A	A2ML1	NM_144670.6(A2ML1):c.3026-53G>A	noncoding	Benign
12	8857460	T	C	T8857460C	A2ML1	NM_144670.6(A2ML1):c.3026-47T>C	noncoding	Benign
12	8857630	A	G	A8857630G	A2ML1	NM_144670.6(A2ML1):c.3107+42A>G	noncoding	Benign
12	8857677	C	T	C8857677T	A2ML1	NM_144670.6(A2ML1):c.3107+89C>T	noncoding	Benign
12	8858072	C	T	C8858072T	A2ML1	NM_144670.6(A2ML1):c.3234C>T:p.Asn1078=	coding	Benign/Likely_benign
12	8858210	A	G	A8858210G	A2ML1	NM_144670.6(A2ML1):c.3264+108A>G	noncoding	Benign
12	8860975	G	A	G8860975A	A2ML1	NM_144670.6(A2ML1):c.3339+20G>A	noncoding	Benign
12	8861176	G	A	G8861176A	A2ML1	NM_144670.6(A2ML1):c.3381G>A:p.Ser1127_Ala1128=	coding	Benign/Likely_benign
12	8862110	G	A	G8862110A	A2ML1	NM_144670.6(A2ML1):c.3502+813G>A	noncoding	Benign
12	8862121	T	C	T8862121C	A2ML1	NM_144670.6(A2ML1):c.3502+824T>C	noncoding	Benign
12	8863722	T	C	T8863722C	A2ML1	NM_144670.6(A2ML1):c.3503-72T>C	noncoding	Benign
12	8863977	A	G	A8863977G	A2ML1	NM_144670.6(A2ML1):c.3686A>G:p.His1229Arg	coding	Benign
12	8864038	A	T	A8864038T	A2ML1	NM_144670.6(A2ML1):c.3717+30A>T	noncoding	Benign
12	8864209	T	G	T8864209G	A2ML1	NM_144670.6(A2ML1):c.3717+201T>G	noncoding	Benign
12	8864265	C	T	C8864265T	A2ML1	NM_144670.6(A2ML1):c.3717+257C>T	noncoding	Benign
12	8864266	A	G	A8864266G	A2ML1	NM_144670.6(A2ML1):c.3717+258A>G	noncoding	Benign
12	8864272	A	G	A8864272G	A2ML1	NM_144670.6(A2ML1):c.3717+264A>G	noncoding	Benign
12	8867656	A	G	A8867656G	A2ML1	NM_144670.6(A2ML1):c.3718-186A>G	noncoding	Benign
12	8868084	G	A	G8868084A	A2ML1	NM_144670.6(A2ML1):c.3933+27G>A	noncoding	Benign
12	8868352	C	T	C8868352T	A2ML1	NM_144670.6(A2ML1):c.4056C>T:p.His1352=	coding	Benign/Likely_benign
12	8868425	T	C	T8868425C	A2ML1	NM_144670.6(A2ML1):c.4061+68T>C	noncoding	Benign
12	8868551	G	A	G8868551A	A2ML1	NM_144670.6(A2ML1):c.4076G>A:p.Arg1359His	coding	Benign/Likely_benign
12	8869488	C	T	C8869488T	A2ML1	NM_144670.6(A2ML1):c.4221+285C>T	noncoding	Benign
12	8874732	G	A	G8874732A	A2ML1	NM_144670.6(A2ML1):c.4324+205G>A	noncoding	Benign
12	8874764	A	G	A8874764G	A2ML1	NM_144670.6(A2ML1):c.4325-207A>G	noncoding	Benign
12	8875971	T	G	T8875971G	A2ML1	NM_144670.6(A2ML1):c.*2-87T>G	noncoding	Benign
12	8876276	G	A	G8876276A	A2ML1	NM_144670.6(A2ML1):c.*220G>A	noncoding	Benign
12	8917770	T	A	T8917770A	PHC1	NM_004426.3(PHC1):c.93T>A:p.Leu31=	coding	Benign
12	8917777	C	T	C8917777T	PHC1	NM_004426.3(PHC1):c.100C>T:p.Arg34Ter	coding	Pathogenic
12	8917982	T	C	T8917982C	PHC1	NM_004426.3(PHC1):c.114+191T>C	noncoding	Benign
12	8919566	C	T	C8919566T	PHC1	NM_004426.3(PHC1):c.115-190C>T	noncoding	Benign
12	8921663	C	T	C8921663T	PHC1	NM_004426.3(PHC1):c.369C>T:p.Pro123=	coding	Benign
12	8922418	G	T	G8922418T	PHC1	NM_004426.3(PHC1):c.457-215G>T	noncoding	Benign
12	8930161	C	T	C8930161T	PHC1	NM_004426.3(PHC1):c.613-274C>T	noncoding	Benign
12	8930259	A	G	A8930259G	PHC1	NM_004426.3(PHC1):c.613-176A>G	noncoding	Benign
12	8932335	G	A	G8932335A	PHC1	NM_004426.3(PHC1):c.1106-228G>A	noncoding	Benign
12	8932503	G	A	G8932503A	PHC1	NM_004426.3(PHC1):c.1106-60G>A	noncoding	Benign
12	8933302	T	G	T8933302G	PHC1	NM_004426.3(PHC1):c.1845T>G:p.Val615=	coding	Benign
12	8933644	A	G	A8933644G	PHC1	NM_004426.3(PHC1):c.1894-221A>G	noncoding	Benign
12	8933957	G	A	G8933957A	PHC1	NM_004426.3(PHC1):c.1986G>A:p.Lys662=	coding	Benign
12	8934302	A	G	A8934302G	PHC1	NM_004426.3(PHC1):c.2077A>G:p.Thr693Ala	coding	Benign
12	8934485	G	A	G8934485A	PHC1	NM_004426.3(PHC1):c.2253+7G>A	noncoding	Benign
12	8935270	A	T	A8935270T	PHC1	NM_004426.3(PHC1):c.2368+32A>T	noncoding	Benign
12	8936676	A	C	A8936676C	PHC1	NM_004426.3(PHC1):c.2369-180A>C	noncoding	Benign
12	8937702	G	A	G8937702A	PHC1	NM_004426.3(PHC1):c.2629-127G>A	noncoding	Benign
12	8937932	G	A	G8937932A	PHC1	NM_004426.3(PHC1):c.2732G>A:p.Arg911His	coding	Benign
12	8938072	C	T	C8938072T	PHC1	NM_004426.3(PHC1):c.2860+12C>T	noncoding	Benign
12	8938263	G	A	G8938263A	PHC1	NM_004426.3(PHC1):c.2860+203G>A	noncoding	Benign
12	8938296	C	T	C8938296T	PHC1	NM_004426.3(PHC1):c.2860+236C>T	noncoding	Benign
12	8939702	C	T	C8939702T	PHC1	NM_004426.3(PHC1):c.*243C>T	noncoding	Benign
12	9010581	A	G	A9010581G	KLRG1	NM_005810.4(KLRG1):c.*1044A>G	noncoding	Benign
12	9079672	T	C	T9079672C	A2M	NM_000014.6(A2M):c.2998A>G:p.Ile1000Val	coding	Benign
12	10098846	C	G	C10098846G	CLEC1A	NM_016511.4(CLEC1A):c.77G>C:p.Gly26Ala	coding	Benign
12	10160535	G	A	G10160535A	OLR1	NM_002543.4(OLR1):c.565-73C>T	noncoding	Benign
12	10372766	G	C	G10372766C	KLRC4-KLRK1	NM_007360.4(KLRK1):c.*348C>G	noncoding	Benign
12	10408358	T	C	T10408358C	KLRC4-KLRK1	NM_013431.2(KLRC4):c.311A>G:p.Asn104Ser	coding	Benign
12	11650286	A	C	A11650286C	ETV6	NM_001987.5(ETV6):c.33+126A>C	noncoding	Benign
12	11650294	A	G	A11650294G	ETV6	NM_001987.5(ETV6):c.33+134A>G	noncoding	Benign
12	11650369	G	C	G11650369C	ETV6	NM_001987.5(ETV6):c.33+209G>C	noncoding	Benign
12	11650420	A	G	A11650420G	ETV6	NM_001987.5(ETV6):c.33+260A>G	noncoding	Benign
12	11752734	G	A	G11752734A	ETV6	NM_001987.5(ETV6):c.163+155G>A	noncoding	Benign
12	11752741	T	C	T11752741C	ETV6	NM_001987.5(ETV6):c.163+162T>C	noncoding	Benign
12	11839234	G	A	G11839234A	ETV6	NM_001987.5(ETV6):c.258G>A:p.Thr86=	coding	Benign
12	11853128	A	C	A11853128C	ETV6	NM_001987.5(ETV6):c.329-299A>C	noncoding	Benign
12	11853610	G	A	G11853610A	ETV6	NM_001987.5(ETV6):c.463+49G>A	noncoding	Benign
12	11853866	T	G	T11853866G	ETV6	NM_001987.5(ETV6):c.463+305T>G	noncoding	Benign
12	11865245	C	T	C11865245T	ETV6	NM_001987.5(ETV6):c.464-4179C>T	noncoding	Benign
12	11869164	A	T	A11869164T	ETV6	NM_001987.5(ETV6):c.464-260A>T	noncoding	Benign
12	11869456	G	A	G11869456A	ETV6	NM_001987.5(ETV6):c.496G>A:p.Val166Met	coding	Benign/Likely_benign
12	11869602	G	A	G11869602A	ETV6	NM_001987.5(ETV6):c.642G>A:p.Pro214=	coding	Benign
12	11870089	C	G	C11870089G	ETV6	NM_001987.5(ETV6):c.1009+120C>G	noncoding	Benign
12	11884104	T	C	T11884104C	ETV6	NM_001987.5(ETV6):c.1010-341T>C	noncoding	Benign
12	11884147	G	A	G11884147A	ETV6	NM_001987.5(ETV6):c.1010-298G>A	noncoding	Benign
12	11884155	T	C	T11884155C	ETV6	NM_001987.5(ETV6):c.1010-290T>C	noncoding	Benign
12	11884244	G	A	G11884244A	ETV6	NM_001987.5(ETV6):c.1010-201G>A	noncoding	Benign
12	11884384	C	G	C11884384G	ETV6	NM_001987.5(ETV6):c.1010-61C>G	noncoding	Benign
12	11886300	A	G	A11886300G	ETV6	NM_001987.5(ETV6):c.1253+274A>G	noncoding	Benign
12	11890727	A	C	A11890727C	ETV6	NM_001987.5(ETV6):c.1254-214A>C	noncoding	Benign
12	11890743	C	G	C11890743G	ETV6	NM_001987.5(ETV6):c.1254-198C>G	noncoding	Benign
12	11890929	C	T	C11890929T	ETV6	NM_001987.5(ETV6):c.1254-12C>T	noncoding	Benign
12	11890975	C	T	C11890975T	ETV6	NM_001987.5(ETV6):c.1288C>T:p.Arg430Ter	coding	Pathogenic
12	11891261	T	C	T11891261C	ETV6	NM_001987.5(ETV6):c.*215T>C	noncoding	Benign
12	11894684	T	C	T11894684C	ETV6	NM_001987.5(ETV6):c.*3638T>C	noncoding	Benign
12	12121384	G	T	G12121384T	LRP6	NM_002336.3(LRP6):c.4584C>A:p.Pro1528=	coding	Benign
12	12124798	T	C	T12124798C	LRP6	NM_002336.3(LRP6):c.4450-136A>G	noncoding	Benign
12	12124913	T	G	T12124913G	LRP6	NM_002336.3(LRP6):c.4450-251A>C	noncoding	Benign
12	12125118	A	G	A12125118G	LRP6	NM_002336.3(LRP6):c.4449+178T>C	noncoding	Benign
12	12125533	T	C	T12125533C	LRP6	NM_002336.3(LRP6):c.4313-101A>G	noncoding	Benign
12	12125534	A	T	A12125534T	LRP6	NM_002336.3(LRP6):c.4313-102T>A	noncoding	Benign
12	12125753	T	G	T12125753G	LRP6	NM_002336.3(LRP6):c.4313-321A>C	noncoding	Benign
12	12126427	G	A	G12126427A	LRP6	NM_002336.3(LRP6):c.4312+264C>T	noncoding	Benign
12	12126461	T	C	T12126461C	LRP6	NM_002336.3(LRP6):c.4312+230A>G	noncoding	Benign
12	12126671	A	G	A12126671G	LRP6	NM_002336.3(LRP6):c.4312+20T>C	noncoding	Benign
12	12126897	T	C	T12126897C	LRP6	NM_002336.3(LRP6):c.4106A>G:p.Gln1369Arg	coding	Benign
12	12126938	A	C	A12126938C	LRP6	NM_002336.3(LRP6):c.4082-17T>G	noncoding	Benign
12	12130519	G	A	G12130519A	LRP6	NM_002336.3(LRP6):c.4081+264C>T	noncoding	Benign
12	12130530	T	C	T12130530C	LRP6	NM_002336.3(LRP6):c.4081+253A>G	noncoding	Benign
12	12131097	A	T	A12131097T	LRP6	NM_002336.3(LRP6):c.3971-204T>A	noncoding	Benign
12	12131120	T	C	T12131120C	LRP6	NM_002336.3(LRP6):c.3971-227A>G	noncoding	Benign
12	12131170	C	T	C12131170T	LRP6	NM_002336.3(LRP6):c.3971-277G>A	noncoding	Benign
12	12131656	G	A	G12131656A	LRP6	NM_002336.3(LRP6):c.3970+165C>T	noncoding	Benign
12	12131981	G	A	G12131981A	LRP6	NM_002336.3(LRP6):c.3810C>T:p.Cys1270=	coding	Benign
12	12134887	T	A	T12134887A	LRP6	NM_002336.3(LRP6):c.3733+288A>T	noncoding	Benign
12	12135167	A	G	A12135167G	LRP6	NM_002336.3(LRP6):c.3733+8T>C	noncoding	Benign
12	12135227	C	T	C12135227T	LRP6	NM_002336.3(LRP6):c.3681G>A:p.Arg1227=	coding	Benign
12	12138095	C	T	C12138095T	LRP6	NM_002336.3(LRP6):c.3607+230G>A	noncoding	Benign
12	12138164	C	A	C12138164A	LRP6	NM_002336.3(LRP6):c.3607+161G>T	noncoding	Benign
12	12138545	G	C	G12138545C	LRP6	NM_002336.3(LRP6):c.3398-11C>G	noncoding	Benign
12	12138704	C	T	C12138704T	LRP6	NM_002336.3(LRP6):c.3398-170G>A	noncoding	Benign
12	12147235	C	T	C12147235T	LRP6	NM_002336.3(LRP6):c.3397+131G>A	noncoding	Benign
12	12147668	A	C	A12147668C	LRP6	NM_002336.3(LRP6):c.3207-112T>G	noncoding	Benign
12	12148964	C	T	C12148964T	LRP6	NM_002336.3(LRP6):c.3184G>A:p.Val1062Ile	coding	Benign
12	12150959	G	A	G12150959A	LRP6	NM_002336.3(LRP6):c.2871C>T:p.Ile957=	coding	Benign
12	12150965	G	A	G12150965A	LRP6	NM_002336.3(LRP6):c.2865C>T:p.Pro955=	coding	Benign
12	12150990	A	G	A12150990G	LRP6	NM_002336.3(LRP6):c.2840T>C:p.Met947Thr	coding	Pathogenic
12	12158968	T	A	T12158968A	LRP6	NM_002336.3(LRP6):c.2652A>T:p.Ser884=	coding	Benign
12	12159568	G	T	G12159568T	LRP6	NM_002336.3(LRP6):c.2464+212C>A	noncoding	Benign
12	12159794	G	C	G12159794C	LRP6	NM_002336.3(LRP6):c.2450C>G:p.Ser817Cys	coding	Benign
12	12161874	G	A	G12161874A	LRP6	NM_002336.3(LRP6):c.2279+319C>T	noncoding	Benign
12	12162050	T	C	T12162050C	LRP6	NM_002336.3(LRP6):c.2279+143A>G	noncoding	Benign
12	12162290	G	A	G12162290A	LRP6	NM_002336.3(LRP6):c.2182C>T:p.Arg728Ter	coding	Pathogenic
12	12164729	T	C	T12164729C	LRP6	NM_002336.3(LRP6):c.1763-167A>G	noncoding	Benign
12	12164886	T	C	T12164886C	LRP6	NM_002336.3(LRP6):c.1762+193A>G	noncoding	Benign
12	12164967	A	G	A12164967G	LRP6	NM_002336.3(LRP6):c.1762+112T>C	noncoding	Benign
12	12165449	A	G	A12165449G	LRP6	NM_002336.3(LRP6):c.1546-154T>C	noncoding	Benign
12	12165556	T	C	T12165556C	LRP6	NM_002336.3(LRP6):c.1546-261A>G	noncoding	Benign
12	12179908	C	T	C12179908T	LRP6	NM_002336.3(LRP6):c.1447G>A:p.Val483Ile	coding	Benign
12	12179987	G	C	G12179987C	LRP6	NM_002336.3(LRP6):c.1374-6C>G	noncoding	Benign
12	12181072	G	C	G12181072C	LRP6	NM_002336.3(LRP6):c.1344C>G:p.Pro448=	coding	Benign
12	12181262	C	G	C12181262G	LRP6	NM_002336.3(LRP6):c.1154G>C:p.Arg385Pro	coding	Pathogenic
12	12184032	A	G	A12184032G	LRP6	NM_002336.3(LRP6):c.924T>C:p.Cys308=	coding	Benign
12	12184112	C	T	C12184112T	LRP6	NM_002336.3(LRP6):c.845-1G>A	coding	Pathogenic
12	12184127	C	T	C12184127T	LRP6	NM_002336.3(LRP6):c.845-16G>A	noncoding	Benign
12	12244332	A	T	A12244332T	LRP6	NM_002336.3(LRP6):c.379T>A:p.Ser127Thr	coding	Benign
12	12244648	A	T	A12244648T	LRP6	NM_002336.3(LRP6):c.63T>A:p.Pro21=	coding	Benign
12	12244657	T	A	T12244657A	LRP6	NM_002336.3(LRP6):c.56-2A>T	noncoding	Pathogenic
12	12244720	C	G	C12244720G	LRP6	NM_002336.3(LRP6):c.56-65G>C	noncoding	Benign
12	12244734	T	A	T12244734A	LRP6	NM_002336.3(LRP6):c.56-79A>T	noncoding	Benign
12	12244736	A	T	A12244736T	LRP6	NM_002336.3(LRP6):c.56-81T>A	noncoding	Benign
12	12244963	C	G	C12244963G	LRP6	NM_002336.3(LRP6):c.56-308G>C	noncoding	Benign
12	12266591	T	C	T12266591C	LRP6	NM_002336.3(LRP6):c.55+90A>G	noncoding	Benign
12	12266785	G	T	G12266785T	LRP6	NM_002336.3(LRP6):c.-50C>A	noncoding	Benign
12	12717038	G	T	G12717038T	CDKN1B	Single_allele	noncoding	Benign
12	12717833	G	A	G12717833A	CDKN1B	NM_004064.5(CDKN1B):c.-7G>A	noncoding	Benign
12	12717852	C	T	C12717852T	CDKN1B	NM_004064.5(CDKN1B):c.13C>T:p.Arg5Ter	coding	Pathogenic
12	12717953	C	T	C12717953T	CDKN1B	NM_004064.5(CDKN1B):c.114C>T:p.His38=	coding	Benign/Likely_benign
12	12717994	T	G	T12717994G	CDKN1B	NM_004064.5(CDKN1B):c.155T>G:p.Met52Arg	coding	Benign/Likely_benign
12	12718018	G	A	G12718018A	CDKN1B	NM_004064.5(CDKN1B):c.179G>A:p.Trp60Ter	coding	Pathogenic
12	12718019	G	A	G12718019A	CDKN1B	NM_004064.5(CDKN1B):c.180G>A:p.Trp60Ter	coding	Pathogenic
12	12718158	C	T	C12718158T	CDKN1B	NM_004064.5(CDKN1B):c.319C>T:p.Gln107Ter	coding	Pathogenic
12	12718260	C	T	C12718260T	CDKN1B	NM_004064.5(CDKN1B):c.421C>T:p.Gln141Ter	coding	Pathogenic
12	12718299	C	T	C12718299T	CDKN1B	NM_004064.5(CDKN1B):c.460C>T:p.Arg154Ter	coding	Pathogenic
12	12718820	C	T	C12718820T	CDKN1B	NM_004064.5(CDKN1B):c.476-5C>T	noncoding	Benign/Likely_benign
12	12718836	C	T	C12718836T	CDKN1B	NM_004064.5(CDKN1B):c.487C>T:p.Gln163Ter	coding	Pathogenic
12	12720814	T	C	T12720814C	CDKN1B	NM_004064.5(CDKN1B):c.*9-222T>C	noncoding	Benign
12	13562374	A	C	A13562374C	GRIN2B	NM_000834.5(GRIN2B):c.*409T>G	noncoding	Benign
12	13562917	G	A	G13562917A	GRIN2B	NM_000834.5(GRIN2B):c.4321C>T:p.Arg1441Cys	coding	Benign
12	13562952	G	A	G13562952A	GRIN2B	NM_000834.5(GRIN2B):c.4286C>T:p.Pro1429Leu	coding	Benign
12	13563003	G	T	G13563003T	GRIN2B	NM_000834.5(GRIN2B):c.4235C>A:p.Ala1412Glu	coding	Benign/Likely_benign
12	13563033	T	C	T13563033C	GRIN2B	NM_000834.5(GRIN2B):c.4205A>G:p.Lys1402Arg	coding	Benign
12	13563090	G	A	G13563090A	GRIN2B	NM_000834.5(GRIN2B):c.4148C>T:p.Thr1383Met	coding	Benign
12	13563131	G	A	G13563131A	GRIN2B	NM_000834.5(GRIN2B):c.4107C>T:p.Gly1369=	coding	Benign/Likely_benign
12	13563133	C	T	C13563133T	GRIN2B	NM_000834.5(GRIN2B):c.4105G>A:p.Gly1369Ser	coding	Benign/Likely_benign
12	13563145	T	G	T13563145G	GRIN2B	NM_000834.5(GRIN2B):c.4093A>C:p.Asn1365His	coding	Benign
12	13563163	C	A	C13563163A	GRIN2B	NM_000834.5(GRIN2B):c.4075G>T:p.Ala1359Ser	coding	Benign
12	13563247	T	G	T13563247G	GRIN2B	NM_000834.5(GRIN2B):c.3991A>C:p.Met1331Leu	coding	Benign
12	13563281	C	T	C13563281T	GRIN2B	NM_000834.5(GRIN2B):c.3957G>A:p.Pro1319=	coding	Benign/Likely_benign
12	13563288	A	G	A13563288G	GRIN2B	NM_000834.5(GRIN2B):c.3950T>C:p.Leu1317Pro	coding	Benign
12	13563441	G	A	G13563441A	GRIN2B	NM_000834.5(GRIN2B):c.3797C>T:p.Pro1266Leu	coding	Benign/Likely_benign
12	13563516	C	T	C13563516T	GRIN2B	NM_000834.5(GRIN2B):c.3722G>A:p.Arg1241Gln	coding	Benign
12	13563650	A	G	A13563650G	GRIN2B	NM_000834.5(GRIN2B):c.3588T>C:p.Pro1196=	coding	Benign/Likely_benign
12	13563689	C	T	C13563689T	GRIN2B	NM_000834.5(GRIN2B):c.3549G>A:p.Thr1183=	coding	Benign/Likely_benign
12	13563765	C	A	C13563765A	GRIN2B	NM_000834.5(GRIN2B):c.3473G>T:p.Arg1158Leu	coding	Benign
12	13563765	C	T	C13563765T	GRIN2B	NM_000834.5(GRIN2B):c.3473G>A:p.Arg1158Gln	coding	Benign
12	13563898	G	A	G13563898A	GRIN2B	NM_000834.5(GRIN2B):c.3340C>T:p.Pro1114Ser	coding	Benign
12	13564064	G	A	G13564064A	GRIN2B	NM_000834.5(GRIN2B):c.3174C>T:p.Ser1058=	coding	Benign/Likely_benign
12	13564189	A	C	A13564189C	GRIN2B	NM_000834.5(GRIN2B):c.3049T>G:p.Ser1017Ala	coding	Benign
12	13564538	G	T	G13564538T	GRIN2B	NM_000834.5(GRIN2B):c.2700C>A:p.Arg900=	coding	Benign
12	13564573	C	T	C13564573T	GRIN2B	NM_000834.5(GRIN2B):c.2665G>A:p.Ala889Thr	coding	Benign
12	13564631	G	T	G13564631T	GRIN2B	NM_000834.5(GRIN2B):c.2607C>A:p.Tyr869Ter	coding	Pathogenic
12	13564658	G	T	G13564658T	GRIN2B	NM_000834.5(GRIN2B):c.2599-19C>A	noncoding	Benign/Likely_benign
12	13566762	T	C	T13566762C	GRIN2B	NM_000834.5(GRIN2B):c.2598+263A>G	noncoding	Benign
12	13566925	A	G	A13566925G	GRIN2B	NM_000834.5(GRIN2B):c.2598+100T>C	noncoding	Benign
12	13567108	C	T	C13567108T	GRIN2B	NM_000834.5(GRIN2B):c.2515G>A:p.Glu839Lys	coding	Pathogenic/Likely_pathogenic
12	13567142	C	T	C13567142T	GRIN2B	NM_000834.5(GRIN2B):c.2481G>A:p.Ala827=	coding	Benign/Likely_benign
12	13567170	A	G	A13567170G	GRIN2B	NM_000834.5(GRIN2B):c.2453T>C:p.Met818Thr	coding	Pathogenic/Likely_pathogenic
12	13567186	G	C	G13567186C	GRIN2B	NM_000834.5(GRIN2B):c.2437C>G:p.Leu813Val	coding	Pathogenic/Likely_pathogenic
12	13567221	C	T	C13567221T	GRIN2B	NM_000834.5(GRIN2B):c.2402G>A:p.Cys801Tyr	coding	Pathogenic
12	13567330	G	A	G13567330A	GRIN2B	NM_000834.5(GRIN2B):c.2360-67C>T	noncoding	Benign
12	13567338	A	G	A13567338G	GRIN2B	NM_000834.5(GRIN2B):c.2360-75T>C	noncoding	Benign
12	13569694	C	T	C13569694T	GRIN2B	NM_000834.5(GRIN2B):c.2359+136G>A	noncoding	Benign
12	13569728	C	T	C13569728T	GRIN2B	NM_000834.5(GRIN2B):c.2359+102G>A	noncoding	Benign
12	13569771	A	G	A13569771G	GRIN2B	NM_000834.5(GRIN2B):c.2359+59T>C	noncoding	Benign
12	13569997	T	C	T13569997C	GRIN2B	NM_000834.5(GRIN2B):c.2192A>G:p.Tyr731Cys	coding	Pathogenic
12	13570026	G	C	G13570026C	GRIN2B	NM_000834.5(GRIN2B):c.2172-9C>G	noncoding	Benign
12	13571825	G	A	G13571825A	GRIN2B	NM_000834.5(GRIN2B):c.2150C>T:p.Ala717Val	coding	Pathogenic
12	13571858	A	T	A13571858T	GRIN2B	NM_000834.5(GRIN2B):c.2117T>A:p.Met706Lys	coding	Pathogenic
12	13571888	C	T	C13571888T	GRIN2B	NM_000834.5(GRIN2B):c.2087G>A:p.Arg696His	coding	Pathogenic/Likely_pathogenic
12	13571903	G	C	G13571903C	GRIN2B	NM_000834.5(GRIN2B):c.2072C>G:p.Thr691Arg	coding	Pathogenic
12	13572164	C	A	C13572164A	GRIN2B	NM_000834.5(GRIN2B):c.2011-200G>T	noncoding	Benign
12	13608565	T	C	T13608565C	GRIN2B	NM_000834.5(GRIN2B):c.2010+38A>G	noncoding	Benign
12	13608764	A	T	A13608764T	GRIN2B	NM_000834.5(GRIN2B):c.1849T>A:p.Ser617Thr	coding	Pathogenic
12	13608765	G	T	G13608765T	GRIN2B	NM_000834.5(GRIN2B):c.1848C>A:p.Asn616Lys	coding	Pathogenic
12	13608781	C	A	C13608781A	GRIN2B	NM_000834.5(GRIN2B):c.1832G>T:p.Gly611Val	coding	Pathogenic/Likely_pathogenic
12	13608875	G	A	G13608875A	GRIN2B	NM_000834.5(GRIN2B):c.1781-43C>T	noncoding	Benign
12	13611532	T	C	T13611532C	GRIN2B	NM_000834.5(GRIN2B):c.1780+193A>G	noncoding	Benign
12	13611647	A	G	A13611647G	GRIN2B	NM_000834.5(GRIN2B):c.1780+78T>C	noncoding	Benign
12	13611801	G	A	G13611801A	GRIN2B	NM_000834.5(GRIN2B):c.1704C>T:p.Ile568=	coding	Benign/Likely_benign
12	13612081	A	T	A13612081T	GRIN2B	NM_000834.5(GRIN2B):c.1655-231T>A	noncoding	Benign
12	13615140	C	T	C13615140T	GRIN2B	NM_000834.5(GRIN2B):c.1628G>A:p.Gly543Glu	coding	Pathogenic
12	13615147	T	C	T13615147C	GRIN2B	NM_000834.5(GRIN2B):c.1621A>G:p.Ser541Gly	coding	Pathogenic
12	13615149	C	T	C13615149T	GRIN2B	NM_000834.5(GRIN2B):c.1619G>A:p.Arg540His	coding	Pathogenic/Likely_pathogenic
12	13615162	C	T	C13615162T	GRIN2B	NM_000834.5(GRIN2B):c.1606G>A:p.Val536Ile	coding	Pathogenic
12	13615420	C	T	C13615420T	GRIN2B	NM_000834.5(GRIN2B):c.1500+73G>A	noncoding	Benign
12	13615611	C	A	C13615611A	GRIN2B	NM_000834.5(GRIN2B):c.1382G>T:p.Cys461Phe	coding	Pathogenic/Likely_pathogenic
12	13615637	G	A	G13615637A	GRIN2B	NM_000834.5(GRIN2B):c.1356C>T:p.Tyr452=	coding	Benign/Likely_benign
12	13615696	C	A	C13615696A	GRIN2B	NM_000834.5(GRIN2B):c.1329-32G>T	noncoding	Benign
12	13616562	G	A	G13616562A	GRIN2B	NM_000834.5(GRIN2B):c.1221C>T:p.Ser407=	coding	Benign/Likely_benign
12	13616606	G	A	G13616606A	GRIN2B	NM_000834.5(GRIN2B):c.1177C>T:p.Arg393Ter	coding	Pathogenic/Likely_pathogenic
12	13616636	A	T	A13616636T	GRIN2B	NM_000834.5(GRIN2B):c.1147T>A:p.Ser383Thr	coding	Benign/Likely_benign
12	13616730	T	C	T13616730C	GRIN2B	NM_000834.5(GRIN2B):c.1126-73A>G	noncoding	Benign
12	13616791	G	C	G13616791C	GRIN2B	NM_000834.5(GRIN2B):c.1126-134C>G	noncoding	Benign
12	13616897	A	G	A13616897G	GRIN2B	NM_000834.5(GRIN2B):c.1126-240T>C	noncoding	Benign
12	13675736	A	G	A13675736G	GRIN2B	NM_000834.5(GRIN2B):c.1125+9T>C	noncoding	Benign
12	13675850	G	A	G13675850A	GRIN2B	NM_000834.5(GRIN2B):c.1020C>T:p.Ile340=	coding	Benign/Likely_benign
12	13753121	T	C	T13753121C	GRIN2B	NM_000834.5(GRIN2B):c.1010+196A>G	noncoding	Benign
12	13753280	A	G	A13753280G	GRIN2B	NM_000834.5(GRIN2B):c.1010+37T>C	noncoding	Benign
12	13753329	T	C	T13753329C	GRIN2B	NM_000834.5(GRIN2B):c.998A>G:p.Asn333Ser	coding	Benign
12	13753368	C	G	C13753368G	GRIN2B	NM_000834.5(GRIN2B):c.959G>C:p.Ser320Thr	coding	Benign
12	13753459	G	A	G13753459A	GRIN2B	NM_000834.5(GRIN2B):c.868C>T:p.Pro290Ser	coding	Benign
12	13753493	G	T	G13753493T	GRIN2B	NM_000834.5(GRIN2B):c.834C>A:p.Ile278=	coding	Benign/Likely_benign
12	13753515	G	A	G13753515A	GRIN2B	NM_000834.5(GRIN2B):c.812C>T:p.Ala271Val	coding	Benign/Likely_benign
12	13753708	T	C	T13753708C	GRIN2B	NM_000834.5(GRIN2B):c.619A>G:p.Met207Val	coding	Benign
12	13753729	C	G	C13753729G	GRIN2B	NM_000834.5(GRIN2B):c.598G>C:p.Glu200Gln	coding	Benign
12	13753814	G	A	G13753814A	GRIN2B	NM_000834.5(GRIN2B):c.513C>T:p.Ile171=	coding	Benign/Likely_benign
12	13753935	A	G	A13753935G	GRIN2B	NM_000834.5(GRIN2B):c.412-20T>C	noncoding	Benign
12	13865849	G	A	G13865849A	GRIN2B	NM_000834.5(GRIN2B):c.360C>T:p.Leu120=	coding	Benign/Likely_benign
12	13865939	A	G	A13865939G	GRIN2B	NM_000834.5(GRIN2B):c.270T>C:p.Ser90=	coding	Benign
12	13866019	C	T	C13866019T	GRIN2B	NM_000834.5(GRIN2B):c.190G>A:p.Val64Met	coding	Benign/Likely_benign
12	13866148	C	T	C13866148T	GRIN2B	NM_000834.5(GRIN2B):c.61G>A:p.Val21Met	coding	Benign/Likely_benign
12	13866149	G	A	G13866149A	GRIN2B	NM_000834.5(GRIN2B):c.60C>T:p.Ala20=	coding	Benign/Likely_benign
12	13866157	C	T	C13866157T	GRIN2B	NM_000834.5(GRIN2B):c.52G>A:p.Val18Ile	coding	Benign/Likely_benign
12	13979877	T	G	T13979877G	GRIN2B	NM_000834.5(GRIN2B):c.-19+51A>C	noncoding	Benign
12	14434367	A	G	A14434367G	ATF7IP	NM_018179.5(ATF7IP):c.1589A>G:p.Lys530Arg	coding	Benign
12	14614625	G	C	G14614625C	GUCY2C	NM_004963.4(GUCY2C):c.3047+242C>G	noncoding	Benign
12	14614964	C	T	C14614964T	GUCY2C	NM_004963.4(GUCY2C):c.2971-21G>A	noncoding	Benign
12	14616534	G	A	G14616534A	GUCY2C	NM_004963.4(GUCY2C):c.2970+99C>T	noncoding	Benign
12	14618957	T	A	T14618957A	GUCY2C	NM_004963.4(GUCY2C):c.2875+254A>T	noncoding	Benign
12	14621315	G	C	G14621315C	GUCY2C	NM_004963.4(GUCY2C):c.2602-99C>G	noncoding	Benign
12	14621915	T	A	T14621915A	GUCY2C	NM_004963.4(GUCY2C):c.2601+90A>T	noncoding	Benign
12	14622280	T	C	T14622280C	GUCY2C	NM_004963.4(GUCY2C):c.2409-83A>G	noncoding	Benign
12	14622326	G	A	G14622326A	GUCY2C	NM_004963.4(GUCY2C):c.2409-129C>T	noncoding	Benign
12	14628446	G	T	G14628446T	GUCY2C	NM_004963.4(GUCY2C):c.2249+200C>A	noncoding	Benign
12	14628569	A	T	A14628569T	GUCY2C	NM_004963.4(GUCY2C):c.2249+77T>A	noncoding	Benign
12	14628755	G	A	G14628755A	GUCY2C	NM_004963.4(GUCY2C):c.2158-18C>T	noncoding	Benign
12	14628934	C	T	C14628934T	GUCY2C	NM_004963.4(GUCY2C):c.2158-197G>A	noncoding	Benign
12	14639717	G	C	G14639717C	GUCY2C	NM_004963.4(GUCY2C):c.2157+145C>G	noncoding	Benign
12	14639959	G	A	G14639959A	GUCY2C	NM_004963.4(GUCY2C):c.2069-9C>T	noncoding	Benign
12	14640180	A	G	A14640180G	GUCY2C	NM_004963.4(GUCY2C):c.2069-230T>C	noncoding	Benign
12	14640220	C	T	C14640220T	GUCY2C	NM_004963.4(GUCY2C):c.2069-270G>A	noncoding	Benign
12	14640853	G	A	G14640853A	GUCY2C	NM_004963.4(GUCY2C):c.2068+229C>T	noncoding	Benign
12	14643709	G	T	G14643709T	GUCY2C	NM_004963.4(GUCY2C):c.1798-3C>A	noncoding	Benign
12	14643821	A	G	A14643821G	GUCY2C	NM_004963.4(GUCY2C):c.1798-115T>C	noncoding	Benign
12	14645154	A	G	A14645154G	GUCY2C	NM_004963.4(GUCY2C):c.1797+75T>C	noncoding	Benign
12	14645333	A	T	A14645333T	GUCY2C	NM_004963.4(GUCY2C):c.1711-18T>A	noncoding	Benign
12	14645591	C	T	C14645591T	GUCY2C	NM_004963.4(GUCY2C):c.1711-276G>A	noncoding	Benign
12	14651873	C	T	C14651873T	GUCY2C	NM_004963.4(GUCY2C):c.1605+86G>A	noncoding	Benign
12	14652060	G	C	G14652060C	GUCY2C	NM_004963.4(GUCY2C):c.1534-30C>G	noncoding	Benign
12	14652294	C	T	C14652294T	GUCY2C	NM_004963.4(GUCY2C):c.1534-264G>A	noncoding	Benign
12	14652880	G	T	G14652880T	GUCY2C	NM_004963.4(GUCY2C):c.1533+72C>A	noncoding	Benign
12	14653149	A	G	A14653149G	GUCY2C	NM_004963.4(GUCY2C):c.1471-135T>C	noncoding	Benign
12	14661078	C	A	C14661078A	GUCY2C	NM_004963.4(GUCY2C):c.1283-16G>T	noncoding	Benign/Likely_benign
12	14661078	C	T	C14661078T	GUCY2C	NM_004963.4(GUCY2C):c.1283-16G>A	noncoding	Benign
12	14669921	G	A	G14669921A	GUCY2C	NM_004963.4(GUCY2C):c.1171-88C>T	noncoding	Benign
12	14673253	C	T	C14673253T	GUCY2C	NM_004963.4(GUCY2C):c.1085-295G>A	noncoding	Benign
12	14674301	G	A	G14674301A	GUCY2C	NM_004963.4(GUCY2C):c.1084+324C>T	noncoding	Benign
12	14674906	T	G	T14674906G	GUCY2C	NM_004963.4(GUCY2C):c.949-146A>C	noncoding	Benign
12	14676524	A	C	A14676524C	GUCY2C	NM_004963.4(GUCY2C):c.948+330T>G	noncoding	Benign
12	14676601	T	C	T14676601C	GUCY2C	NM_004963.4(GUCY2C):c.948+253A>G	noncoding	Benign
12	14676768	G	T	G14676768T	GUCY2C	NM_004963.4(GUCY2C):c.948+86C>A	noncoding	Benign
12	14676959	A	C	A14676959C	GUCY2C	NM_004963.4(GUCY2C):c.843T>G:p.Phe281Leu	coding	Benign
12	14676986	A	G	A14676986G	GUCY2C	NM_004963.4(GUCY2C):c.831-15T>C	noncoding	Benign
12	14677242	G	T	G14677242T	GUCY2C	NM_004963.4(GUCY2C):c.831-271C>A	noncoding	Benign
12	14681493	G	T	G14681493T	GUCY2C	NM_004963.4(GUCY2C):c.612-16C>A	noncoding	Benign
12	14681764	G	A	G14681764A	GUCY2C	NM_004963.4(GUCY2C):c.612-287C>T	noncoding	Benign
12	14682782	G	T	G14682782T	GUCY2C	NM_004963.4(GUCY2C):c.611+260C>A	noncoding	Benign
12	14683083	C	T	C14683083T	GUCY2C	NM_004963.4(GUCY2C):c.570G>A:p.Ser190=	coding	Benign
12	14683143	G	A	G14683143A	GUCY2C	NM_004963.4(GUCY2C):c.510C>T:p.Phe170=	coding	Benign
12	14683424	A	G	A14683424G	GUCY2C	NM_004963.4(GUCY2C):c.396-167T>C	noncoding	Benign
12	14687990	A	G	A14687990G	GUCY2C	NM_004963.4(GUCY2C):c.291T>C:p.Ser97=	coding	Benign
12	14688192	C	T	C14688192T	GUCY2C	NM_004963.4(GUCY2C):c.218-129G>A	noncoding	Benign
12	14696212	T	G	T14696212G	GUCY2C	NM_004963.4(GUCY2C):c.217+20A>C	noncoding	Benign
12	14696646	G	A	G14696646A	GUCY2C	Single_allele	noncoding	Benign
12	14882575	G	A	G14882575A	MGP	NM_000900.5(MGP):c.171-295C>T	noncoding	Benign
12	14885985	A	G	A14885985G	MGP	NC_000012.11:g.15038919A>G	noncoding	Benign
12	15322293	G	A	G15322293A	PTPRO	Single_allele	noncoding	Benign
12	15322757	G	T	G15322757T	PTPRO	NM_030667.3(PTPRO):c.31G>T:p.Ala11Ser	coding	Benign
12	15484006	T	C	T15484006C	PTPRO	NM_030667.3(PTPRO):c.108T>C:p.Asp36=	coding	Benign
12	15484402	C	T	C15484402T	PTPRO	NM_030667.3(PTPRO):c.349+155C>T	noncoding	Benign
12	15484458	C	A	C15484458A	PTPRO	NM_030667.3(PTPRO):c.349+211C>A	noncoding	Benign
12	15484466	T	G	T15484466G	PTPRO	NM_030667.3(PTPRO):c.349+219T>G	noncoding	Benign
12	15496965	T	C	T15496965C	PTPRO	NM_030667.3(PTPRO):c.350-280T>C	noncoding	Benign
12	15497422	G	A	G15497422A	PTPRO	NM_030667.3(PTPRO):c.508+19G>A	noncoding	Benign/Likely_benign
12	15499286	A	G	A15499286G	PTPRO	NM_030667.3(PTPRO):c.509-156A>G	noncoding	Benign
12	15499396	T	C	T15499396C	PTPRO	NM_030667.3(PTPRO):c.509-46T>C	noncoding	Benign
12	15499603	C	T	C15499603T	PTPRO	NM_030667.3(PTPRO):c.661+9C>T	noncoding	Benign
12	15499717	T	C	T15499717C	PTPRO	NM_030667.3(PTPRO):c.661+123T>C	noncoding	Benign
12	15499878	T	C	T15499878C	PTPRO	NM_030667.3(PTPRO):c.661+284T>C	noncoding	Benign
12	15501455	T	C	T15501455C	PTPRO	NM_030667.3(PTPRO):c.662-165T>C	noncoding	Benign
12	15502223	T	G	T15502223G	PTPRO	NM_030667.3(PTPRO):c.1105+160T>G	noncoding	Benign
12	15503898	T	A	T15503898A	PTPRO	NM_030667.3(PTPRO):c.1106-10T>A	noncoding	Benign
12	15503912	C	G	C15503912G	PTPRO	NM_030667.3(PTPRO):c.1110C>G:p.Asn370Lys	coding	Benign/Likely_benign
12	15508290	A	T	A15508290T	PTPRO	NM_030667.3(PTPRO):c.1268-281A>T	noncoding	Benign
12	15508308	A	G	A15508308G	PTPRO	NM_030667.3(PTPRO):c.1268-263A>G	noncoding	Benign
12	15508340	G	A	G15508340A	PTPRO	NM_030667.3(PTPRO):c.1268-231G>A	noncoding	Benign
12	15508507	A	G	A15508507G	PTPRO	NM_030667.3(PTPRO):c.1268-64A>G	noncoding	Benign
12	15509036	T	A	T15509036A	PTPRO	NM_030667.3(PTPRO):c.1464+269T>A	noncoding	Benign
12	15509051	G	A	G15509051A	PTPRO	NM_030667.3(PTPRO):c.1464+284G>A	noncoding	Benign
12	15515218	G	A	G15515218A	PTPRO	NM_030667.3(PTPRO):c.1465-280G>A	noncoding	Benign
12	15516803	T	C	T15516803C	PTPRO	NM_030667.3(PTPRO):c.1626T>C:p.Gly542=	coding	Benign
12	15520169	C	T	C15520169T	PTPRO	NM_030667.3(PTPRO):c.1780-32C>T	noncoding	Benign
12	15525058	A	T	A15525058T	PTPRO	NM_030667.3(PTPRO):c.2043+93A>T	noncoding	Benign
12	15525204	A	G	A15525204G	PTPRO	NM_030667.3(PTPRO):c.2043+239A>G	noncoding	Benign
12	15526186	C	A	C15526186A	PTPRO	NM_030667.3(PTPRO):c.2088C>A:p.Gly696=	coding	Benign
12	15526274	G	A	G15526274A	PTPRO	NM_030667.3(PTPRO):c.2164+12G>A	noncoding	Benign
12	15546564	C	A	C15546564A	PTPRO	NM_030667.3(PTPRO):c.2165-5C>A	coding	Benign/Likely_benign
12	15546838	C	G	C15546838G	PTPRO	NM_030667.3(PTPRO):c.2304+130C>G	noncoding	Benign
12	15548918	G	A	G15548918A	PTPRO	NM_030667.3(PTPRO):c.2305-176G>A	noncoding	Benign
12	15549073	C	T	C15549073T	PTPRO	NM_030667.3(PTPRO):c.2305-21C>T	noncoding	Benign
12	15549195	T	C	T15549195C	PTPRO	NM_030667.3(PTPRO):c.2406T>C:p.Ser802=	coding	Benign
12	15551216	G	A	G15551216A	PTPRO	NM_030667.3(PTPRO):c.2438-335G>A	noncoding	Benign
12	15551491	G	T	G15551491T	PTPRO	NM_030667.3(PTPRO):c.2438-60G>T	noncoding	Benign
12	15557336	C	G	C15557336G	PTPRO	NM_030667.3(PTPRO):c.2559-119C>G	noncoding	Benign
12	15560123	A	G	A15560123G	PTPRO	NM_030667.3(PTPRO):c.2628-70A>G	noncoding	Benign
12	15565827	A	G	A15565827G	PTPRO	NM_030667.3(PTPRO):c.2747+199A>G	noncoding	Benign
12	15569621	A	G	A15569621G	PTPRO	NM_030667.3(PTPRO):c.2829+123A>G	noncoding	Benign
12	15569741	C	T	C15569741T	PTPRO	NM_030667.3(PTPRO):c.2829+243C>T	noncoding	Benign
12	15578599	T	C	T15578599C	PTPRO	NM_030667.3(PTPRO):c.2830-254T>C	noncoding	Benign
12	15578605	T	C	T15578605C	PTPRO	NM_030667.3(PTPRO):c.2830-248T>C	noncoding	Benign
12	15578810	C	T	C15578810T	PTPRO	NM_030667.3(PTPRO):c.2830-43C>T	noncoding	Benign
12	15580021	T	C	T15580021C	PTPRO	NM_030667.3(PTPRO):c.2921-18T>C	noncoding	Benign
12	15580182	T	A	T15580182A	PTPRO	NM_030667.3(PTPRO):c.2997+67T>A	noncoding	Benign
12	15580315	A	T	A15580315T	PTPRO	NM_030667.3(PTPRO):c.2997+200A>T	noncoding	Benign
12	15580735	G	A	G15580735A	PTPRO	NM_030667.3(PTPRO):c.3036G>A:p.Gly1012=	coding	Benign
12	15586902	C	T	C15586902T	PTPRO	NM_030667.3(PTPRO):c.3261C>T:p.Asp1087=	coding	Benign
12	15587360	C	A	C15587360A	PTPRO	NM_030667.3(PTPRO):c.3410+309C>A	noncoding	Benign
12	15595086	C	T	C15595086T	PTPRO	NM_030667.3(PTPRO):c.*16+29C>T	noncoding	Benign
12	15623283	C	T	C15623283T	EPS8	NM_004447.6(EPS8):c.2230G>A:p.Val744Ile	coding	Benign/Likely_benign
12	15624079	C	G	C15624079G	EPS8	NM_004447.6(EPS8):c.2225+148G>C	noncoding	Benign
12	15624552	T	C	T15624552C	EPS8	NM_004447.6(EPS8):c.2045-145A>G	noncoding	Benign
12	15631161	T	C	T15631161C	EPS8	NM_004447.6(EPS8):c.2044+281A>G	noncoding	Benign
12	15631284	C	G	C15631284G	EPS8	NM_004447.6(EPS8):c.2044+158G>C	noncoding	Benign
12	15631648	T	C	T15631648C	EPS8	NM_004447.6(EPS8):c.1838A>G:p.Tyr613Cys	coding	Benign
12	15640445	T	C	T15640445C	EPS8	NM_004447.6(EPS8):c.1821+258A>G	noncoding	Benign
12	15640466	G	A	G15640466A	EPS8	NM_004447.6(EPS8):c.1821+237C>T	noncoding	Benign
12	15640736	C	A	C15640736A	EPS8	NM_004447.6(EPS8):c.1788G>T:p.Gly596=	coding	Benign
12	15640931	T	C	T15640931C	EPS8	NM_004447.6(EPS8):c.1678-85A>G	noncoding	Benign
12	15641511	C	T	C15641511T	EPS8	NM_004447.6(EPS8):c.1677+211G>A	noncoding	Benign
12	15641862	T	C	T15641862C	EPS8	NM_004447.6(EPS8):c.1569-32A>G	noncoding	Benign
12	15646878	C	A	C15646878A	EPS8	NM_004447.6(EPS8):c.1568+249G>T	noncoding	Benign
12	15646909	C	T	C15646909T	EPS8	NM_004447.6(EPS8):c.1568+218G>A	noncoding	Benign
12	15650615	T	A	T15650615A	EPS8	NM_004447.6(EPS8):c.1434+208A>T	noncoding	Benign
12	15650833	A	C	A15650833C	EPS8	NM_004447.6(EPS8):c.1424T>G:p.Leu475Ter	coding	Pathogenic
12	15651058	T	C	T15651058C	EPS8	NM_004447.6(EPS8):c.1251-52A>G	noncoding	Benign
12	15653823	G	A	G15653823A	EPS8	NM_004447.6(EPS8):c.1250+322C>T	noncoding	Benign
12	15653990	A	G	A15653990G	EPS8	NM_004447.6(EPS8):c.1250+155T>C	noncoding	Benign
12	15654433	T	C	T15654433C	EPS8	NM_004447.6(EPS8):c.1102-140A>G	noncoding	Benign
12	15658097	C	T	C15658097T	EPS8	NM_004447.6(EPS8):c.1083G>A:p.Leu361=	coding	Benign/Likely_benign
12	15658308	T	C	T15658308C	EPS8	NM_004447.6(EPS8):c.1027-155A>G	noncoding	Benign
12	15660726	G	A	G15660726A	EPS8	NM_004447.6(EPS8):c.825C>T:p.His275=	coding	Benign/Likely_benign
12	15660971	A	G	A15660971G	EPS8	NM_004447.6(EPS8):c.811-231T>C	noncoding	Benign
12	15660979	T	C	T15660979C	EPS8	NM_004447.6(EPS8):c.811-239A>G	noncoding	Benign
12	15661824	T	C	T15661824C	EPS8	NM_004447.6(EPS8):c.810+202A>G	noncoding	Benign
12	15661867	T	C	T15661867C	EPS8	NM_004447.6(EPS8):c.810+159A>G	noncoding	Benign
12	15665946	T	A	T15665946A	EPS8	NM_004447.6(EPS8):c.600-54A>T	noncoding	Benign
12	15669295	A	C	A15669295C	EPS8	NM_004447.6(EPS8):c.516+92T>G	noncoding	Benign
12	15669310	T	C	T15669310C	EPS8	NM_004447.6(EPS8):c.516+77A>G	noncoding	Benign
12	15670679	C	T	C15670679T	EPS8	NM_004447.6(EPS8):c.204+177G>A	noncoding	Benign
12	15681318	T	A	T15681318A	EPS8	NM_004447.6(EPS8):c.60-16A>T	noncoding	Benign/Likely_benign
12	18282518	C	T	C18282518T	PIK3C2G	NM_001288772.2(PIK3C2G):c.437C>T:p.Pro146Leu	coding	Benign
12	18723318	G	C	G18723318C	PLCZ1	NM_033123.4(PLCZ1):c.360C>G:p.Ile120Met	coding	Benign
12	20369318	G	A	G20369318A	PDE3A	NM_000921.5(PDE3A):c.34G>A:p.Asp12Asn	coding	Benign
12	20369686	G	T	G20369686T	PDE3A	NM_000921.5(PDE3A):c.402G>T:p.Ala134=	coding	Benign
12	20370409	G	T	G20370409T	PDE3A	NM_000921.5(PDE3A):c.960+165G>T	noncoding	Benign
12	20370410	T	G	T20370410G	PDE3A	NM_000921.5(PDE3A):c.960+166T>G	noncoding	Benign
12	20370411	T	G	T20370411G	PDE3A	NM_000921.5(PDE3A):c.960+167T>G	noncoding	Benign
12	20556799	G	A	G20556799A	PDE3A	NM_000921.5(PDE3A):c.1011+89G>A	noncoding	Benign
12	20571857	G	C	G20571857C	PDE3A	NM_000921.5(PDE3A):c.1011+15147G>C	noncoding	Benign
12	20572054	G	A	G20572054A	PDE3A	NM_000921.5(PDE3A):c.1011+15344G>A	coding	Benign
12	20613625	C	T	C20613625T	PDE3A	NM_000921.5(PDE3A):c.1194C>T:p.Val398=	coding	Benign
12	20613751	G	C	G20613751C	PDE3A	NM_000921.5(PDE3A):c.1269+51G>C	noncoding	Benign
12	20613957	G	A	G20613957A	PDE3A	NM_000921.5(PDE3A):c.1269+257G>A	noncoding	Benign
12	20616054	C	T	C20616054T	PDE3A	NM_000921.5(PDE3A):c.1270-176C>T	noncoding	Benign
12	20621151	A	G	A20621151G	PDE3A	NM_000921.5(PDE3A):c.1425-145A>G	noncoding	Benign
12	20621530	A	G	A20621530G	PDE3A	NM_000921.5(PDE3A):c.1540+119A>G	noncoding	Benign
12	20621605	A	G	A20621605G	PDE3A	NM_000921.5(PDE3A):c.1540+194A>G	noncoding	Benign
12	20630165	A	C	A20630165C	PDE3A	NM_000921.5(PDE3A):c.1760+38A>C	noncoding	Benign
12	20630166	C	T	C20630166T	PDE3A	NM_000921.5(PDE3A):c.1760+39C>T	noncoding	Benign
12	20633853	T	C	T20633853C	PDE3A	NM_000921.5(PDE3A):c.1846+75T>C	noncoding	Benign
12	20633873	T	G	T20633873G	PDE3A	NM_000921.5(PDE3A):c.1846+95T>G	noncoding	Benign
12	20633888	C	T	C20633888T	PDE3A	NM_000921.5(PDE3A):c.1846+110C>T	noncoding	Benign
12	20633907	T	C	T20633907C	PDE3A	NM_000921.5(PDE3A):c.1846+129T>C	noncoding	Benign
12	20633946	C	T	C20633946T	PDE3A	NM_000921.5(PDE3A):c.1846+168C>T	noncoding	Benign
12	20637217	T	C	T20637217C	PDE3A	NM_000921.5(PDE3A):c.2119T>C:p.Cys707Arg	coding	Benign
12	20637424	G	A	G20637424A	PDE3A	NM_000921.5(PDE3A):c.2139+187G>A	noncoding	Benign
12	20639827	G	T	G20639827T	PDE3A	NM_000921.5(PDE3A):c.2140-19G>T	noncoding	Benign
12	20640061	G	A	G20640061A	PDE3A	NM_000921.5(PDE3A):c.2251+104G>A	noncoding	Benign
12	20647086	C	T	C20647086T	PDE3A	NM_000921.5(PDE3A):c.2565+136C>T	noncoding	Benign
12	20648500	T	G	T20648500G	PDE3A	NM_000921.5(PDE3A):c.2566-188T>G	noncoding	Benign
12	20648702	C	T	C20648702T	PDE3A	NM_000921.5(PDE3A):c.2580C>T:p.Asn860=	coding	Benign
12	20648907	C	T	C20648907T	PDE3A	NM_000921.5(PDE3A):c.2769+16C>T	noncoding	Benign
12	20650332	G	A	G20650332A	PDE3A	NM_000921.5(PDE3A):c.2770-113G>A	noncoding	Benign
12	20650389	A	C	A20650389C	PDE3A	NM_000921.5(PDE3A):c.2770-56A>C	noncoding	Benign
12	20650615	T	C	T20650615C	PDE3A	NM_000921.5(PDE3A):c.2925+15T>C	noncoding	Benign
12	20653789	A	G	A20653789G	PDE3A	NM_000921.5(PDE3A):c.2926-158A>G	noncoding	Benign
12	20654111	C	T	C20654111T	PDE3A	NM_000921.5(PDE3A):c.3090C>T:p.Ser1030=	coding	Benign
12	20654423	G	A	G20654423A	PDE3A	NM_000921.5(PDE3A):c.3184+218G>A	noncoding	Benign
12	20654519	C	G	C20654519G	PDE3A	NM_000921.5(PDE3A):c.3184+314C>G	noncoding	Benign
12	20679922	T	C	T20679922C	PDE3A	NM_000921.5(PDE3A):c.3185-108T>C	noncoding	Benign
12	20815894	C	T	C20815894T	SLCO1B3	NM_019844.4(SLCO1B3):c.84+72C>T	noncoding	Benign
12	20815946	A	T	A20815946T	SLCO1B3	NM_019844.4(SLCO1B3):c.84+124A>T	noncoding	Benign
12	20855422	T	G	T20855422G	SLCO1B3	NM_019844.4(SLCO1B3):c.226+253T>G	noncoding	Benign
12	20858301	T	C	T20858301C	SLCO1B3	NM_019844.4(SLCO1B3):c.227-138T>C	noncoding	Benign
12	20858362	A	G	A20858362G	SLCO1B3	NM_019844.4(SLCO1B3):c.227-77A>G	noncoding	Benign
12	20858376	T	C	T20858376C	SLCO1B3	NM_019844.4(SLCO1B3):c.227-63T>C	noncoding	Benign
12	20860697	C	T	C20860697T	SLCO1B3	NM_019844.4(SLCO1B3):c.360-320C>T	noncoding	Benign
12	20860707	A	C	A20860707C	SLCO1B3	NM_019844.4(SLCO1B3):c.360-310A>C	noncoding	Benign
12	20860744	A	G	A20860744G	SLCO1B3	NM_019844.4(SLCO1B3):c.360-273A>G	noncoding	Benign
12	20861205	C	G	C20861205G	SLCO1B3	NM_019844.4(SLCO1B3):c.481+67C>G	noncoding	Benign
12	20861229	T	A	T20861229A	SLCO1B3	NM_019844.4(SLCO1B3):c.481+91T>A	noncoding	Benign
12	20861335	G	A	G20861335A	SLCO1B3	NM_019844.4(SLCO1B3):c.481+197G>A	noncoding	Benign
12	20861409	C	T	C20861409T	SLCO1B3	NM_019844.4(SLCO1B3):c.481+271C>T	noncoding	Benign
12	20862112	C	G	C20862112G	SLCO1B3	NM_019844.4(SLCO1B3):c.482-300C>G	noncoding	Benign
12	20862141	G	T	G20862141T	SLCO1B3	NM_019844.4(SLCO1B3):c.482-271G>T	noncoding	Benign
12	20862205	G	T	G20862205T	SLCO1B3	NM_019844.4(SLCO1B3):c.482-207G>T	noncoding	Benign
12	20862271	C	A	C20862271A	SLCO1B3	NM_019844.4(SLCO1B3):c.482-141C>A	noncoding	Benign
12	20862309	C	G	C20862309G	SLCO1B3	NM_019844.4(SLCO1B3):c.482-103C>G	noncoding	Benign
12	20875159	T	C	T20875159C	SLCO1B3	NM_019844.4(SLCO1B3):c.728-76T>C	noncoding	Benign
12	20877937	G	A	G20877937A	SLCO1B3;SLCO1B3-SLCO1B7	NM_019844.4(SLCO1B3):c.1135+1G>A	coding	Pathogenic
12	20883168	A	G	A20883168G	SLCO1B3	NM_019844.4(SLCO1B3):c.1498-250A>G	noncoding	Benign
12	20883234	T	C	T20883234C	SLCO1B3	NM_019844.4(SLCO1B3):c.1498-184T>C	noncoding	Benign
12	20883336	T	G	T20883336G	SLCO1B3	NM_019844.4(SLCO1B3):c.1498-82T>G	noncoding	Benign
12	20883749	A	C	A20883749C	SLCO1B3	NM_019844.4(SLCO1B3):c.1682+147A>C	noncoding	Benign
12	20898501	G	A	G20898501A	SLCO1B3	NM_019844.4(SLCO1B3):c.1747+1G>A	coding	Pathogenic
12	20898555	C	T	C20898555T	SLCO1B3	NM_019844.4(SLCO1B3):c.1747+55C>T	noncoding	Benign
12	20915765	C	T	C20915765T	SLCO1B3	NM_019844.4(SLCO1B3):c.1866-239C>T	noncoding	Benign
12	21141359	T	G	T21141359G	SLCO1B1	NM_006446.5(SLCO1B1):c.-61-155T>G	noncoding	Benign
12	21141851	G	A	G21141851A	SLCO1B1	NM_006446.5(SLCO1B1):c.84+193G>A	noncoding	Benign
12	21172413	G	A	G21172413A	SLCO1B1	NM_006446.5(SLCO1B1):c.85-237G>A	noncoding	Benign
12	21172880	T	G	T21172880G	SLCO1B1	NM_006446.5(SLCO1B1):c.226+89T>G	noncoding	Benign
12	21173015	A	G	A21173015G	SLCO1B1	NM_006446.5(SLCO1B1):c.226+224A>G	noncoding	Benign
12	21174806	C	A	C21174806A	SLCO1B1	NM_006446.5(SLCO1B1):c.359+97C>A	noncoding	Benign
12	21176456	C	T	C21176456T	SLCO1B1	NM_006446.5(SLCO1B1):c.360-320C>T	noncoding	Benign
12	21176490	T	C	T21176490C	SLCO1B1	NM_006446.5(SLCO1B1):c.360-286T>C	noncoding	Benign
12	21176804	A	G	A21176804G	SLCO1B1	NM_006446.5(SLCO1B1):c.388A>G:p.Asn130Asp	coding	Benign
12	21177057	C	T	C21177057T	SLCO1B1	NM_006446.5(SLCO1B1):c.481+160C>T	noncoding	Benign
12	21177062	A	T	A21177062T	SLCO1B1	NM_006446.5(SLCO1B1):c.481+165A>T	noncoding	Benign
12	21177086	G	A	G21177086A	SLCO1B1	NM_006446.5(SLCO1B1):c.481+189G>A	noncoding	Benign
12	21177088	G	A	G21177088A	SLCO1B1	NM_006446.5(SLCO1B1):c.481+191G>A	noncoding	Benign
12	21179053	C	T	C21179053T	SLCO1B1	NM_006446.5(SLCO1B1):c.727+33C>T	noncoding	Benign
12	21200714	A	C	A21200714C	SLCO1B1	NM_006446.5(SLCO1B1):c.1135+42A>C	noncoding	Benign
12	21200738	G	A	G21200738A	SLCO1B1	NM_006446.5(SLCO1B1):c.1135+66G>A	noncoding	Benign
12	21200938	A	G	A21200938G	SLCO1B1	NM_006446.5(SLCO1B1):c.1135+266A>G	noncoding	Benign
12	21200977	C	G	C21200977G	SLCO1B1	NM_006446.5(SLCO1B1):c.1135+305C>G	noncoding	Benign
12	21216949	C	G	C21216949G	SLCO1B1	NM_006446.5(SLCO1B1):c.1498-170C>G	noncoding	Benign
12	21217030	T	C	T21217030C	SLCO1B1	NM_006446.5(SLCO1B1):c.1498-89T>C	noncoding	Benign
12	21217051	G	A	G21217051A	SLCO1B1	NM_006446.5(SLCO1B1):c.1498-68G>A	noncoding	Benign
12	21222127	T	A	T21222127A	SLCO1B1	NM_006446.5(SLCO1B1):c.1683-173T>A	noncoding	Benign
12	21222129	G	C	G21222129C	SLCO1B1	NM_006446.5(SLCO1B1):c.1683-171G>C	noncoding	Benign
12	21224563	C	A	C21224563A	SLCO1B1	NM_006446.5(SLCO1B1):c.1748-159C>A	noncoding	Benign
12	21224625	G	C	G21224625C	SLCO1B1	NM_006446.5(SLCO1B1):c.1748-97G>C	noncoding	Benign
12	21238884	T	C	T21238884C	SLCO1B1	NM_006446.5(SLCO1B1):c.1866-95T>C	noncoding	Benign
12	21437292	A	G	A21437292G	PYROXD1	Single_allele	noncoding	Benign
12	21437311	T	C	T21437311C	PYROXD1	Single_allele	noncoding	Benign
12	21437463	T	C	T21437463C	PYROXD1	Single_allele	noncoding	Benign
12	21437556	G	A	G21437556A	PYROXD1	Single_allele	noncoding	Benign
12	21437623	A	C	A21437623C	PYROXD1	Single_allele	noncoding	Benign
12	21437687	T	C	T21437687C	PYROXD1	NM_024854.5(PYROXD1):c.-44T>C	noncoding	Benign
12	21437854	C	A	C21437854A	PYROXD1	NM_024854.5(PYROXD1):c.84+40C>A	noncoding	Benign
12	21440103	T	C	T21440103C	PYROXD1	NM_024854.5(PYROXD1):c.85-265T>C	noncoding	Benign
12	21440470	G	C	G21440470C	PYROXD1	NM_024854.5(PYROXD1):c.165+22G>C	noncoding	Benign
12	21440591	A	G	A21440591G	PYROXD1	NM_024854.5(PYROXD1):c.165+143A>G	noncoding	Benign
12	21445261	G	A	G21445261A	PYROXD1	NM_024854.5(PYROXD1):c.166-86G>A	noncoding	Benign
12	21445330	C	T	C21445330T	PYROXD1	NM_024854.5(PYROXD1):c.166-17C>T	noncoding	Benign
12	21445540	C	G	C21445540G	PYROXD1	NM_024854.5(PYROXD1):c.285+74C>G	noncoding	Benign
12	21445592	A	G	A21445592G	PYROXD1	NM_024854.5(PYROXD1):c.285+126A>G	noncoding	Benign
12	21445767	T	C	T21445767C	PYROXD1	NM_024854.5(PYROXD1):c.285+301T>C	noncoding	Benign
12	21450021	C	T	C21450021T	PYROXD1	NM_024854.5(PYROXD1):c.414+330C>T	noncoding	Benign
12	21451806	C	T	C21451806T	PYROXD1	NM_024854.5(PYROXD1):c.415-275C>T	noncoding	Benign
12	21451845	A	G	A21451845G	PYROXD1	NM_024854.5(PYROXD1):c.415-236A>G	noncoding	Benign
12	21452200	A	G	A21452200G	PYROXD1	NM_024854.5(PYROXD1):c.488+46A>G	noncoding	Benign
12	21452223	A	C	A21452223C	PYROXD1	NM_024854.5(PYROXD1):c.488+69A>C	noncoding	Benign
12	21452385	A	G	A21452385G	PYROXD1	NM_024854.5(PYROXD1):c.488+231A>G	noncoding	Benign
12	21452432	G	T	G21452432T	PYROXD1	NM_024854.5(PYROXD1):c.488+278G>T	noncoding	Benign
12	21454865	C	T	C21454865T	PYROXD1	NM_024854.5(PYROXD1):c.489-267C>T	noncoding	Benign
12	21454969	C	T	C21454969T	PYROXD1	NM_024854.5(PYROXD1):c.489-163C>T	noncoding	Benign
12	21455077	G	T	G21455077T	PYROXD1	NM_024854.5(PYROXD1):c.489-55G>T	noncoding	Benign
12	21455109	A	G	A21455109G	PYROXD1	NM_024854.5(PYROXD1):c.489-23A>G	noncoding	Benign
12	21455458	T	C	T21455458C	PYROXD1	NM_024854.5(PYROXD1):c.649+166T>C	noncoding	Benign
12	21455585	G	A	G21455585A	PYROXD1	NM_024854.5(PYROXD1):c.649+293G>A	noncoding	Benign
12	21455651	T	C	T21455651C	PYROXD1	NM_024854.5(PYROXD1):c.650-344T>C	noncoding	Benign
12	21455699	T	G	T21455699G	PYROXD1	NM_024854.5(PYROXD1):c.650-296T>G	noncoding	Benign
12	21455798	C	T	C21455798T	PYROXD1	NM_024854.5(PYROXD1):c.650-197C>T	noncoding	Benign
12	21455957	T	C	T21455957C	PYROXD1	NM_024854.5(PYROXD1):c.650-38T>C	noncoding	Benign
12	21456193	T	C	T21456193C	PYROXD1	NM_024854.5(PYROXD1):c.750+98T>C	noncoding	Benign
12	21456246	T	G	T21456246G	PYROXD1	NM_024854.5(PYROXD1):c.750+151T>G	noncoding	Benign
12	21456288	G	T	G21456288T	PYROXD1	NM_024854.5(PYROXD1):c.750+193G>T	noncoding	Benign
12	21460745	A	T	A21460745T	PYROXD1	NM_024854.5(PYROXD1):c.751-280A>T	noncoding	Benign
12	21460933	A	G	A21460933G	PYROXD1	NM_024854.5(PYROXD1):c.751-92A>G	noncoding	Benign
12	21460989	T	C	T21460989C	PYROXD1	NM_024854.5(PYROXD1):c.751-36T>C	noncoding	Benign
12	21461117	T	C	T21461117C	PYROXD1	NM_024854.5(PYROXD1):c.843T>C:p.Thr281=	coding	Benign
12	21461322	G	A	G21461322A	PYROXD1	NM_024854.5(PYROXD1):c.880+168G>A	noncoding	Benign
12	21461667	A	G	A21461667G	PYROXD1	NM_024854.5(PYROXD1):c.881-341A>G	noncoding	Benign
12	21461969	A	G	A21461969G	PYROXD1	NM_024854.5(PYROXD1):c.881-39A>G	noncoding	Benign
12	21462273	A	G	A21462273G	PYROXD1	NM_024854.5(PYROXD1):c.993+153A>G	noncoding	Benign
12	21462314	T	G	T21462314G	PYROXD1	NM_024854.5(PYROXD1):c.993+194T>G	noncoding	Benign
12	21462323	G	A	G21462323A	PYROXD1	NM_024854.5(PYROXD1):c.993+203G>A	noncoding	Benign
12	21462334	T	C	T21462334C	PYROXD1	NM_024854.5(PYROXD1):c.993+214T>C	noncoding	Benign
12	21462384	C	T	C21462384T	PYROXD1	NM_024854.5(PYROXD1):c.993+264C>T	noncoding	Benign
12	21462722	A	C	A21462722C	PYROXD1	NM_024854.5(PYROXD1):c.994-18A>C	noncoding	Benign
12	21462730	T	C	T21462730C	PYROXD1	NM_024854.5(PYROXD1):c.994-10T>C	noncoding	Benign
12	21462876	T	C	T21462876C	PYROXD1	NM_024854.5(PYROXD1):c.1116+14T>C	noncoding	Benign
12	21463001	A	T	A21463001T	PYROXD1	NM_024854.5(PYROXD1):c.1116+139A>T	noncoding	Benign
12	21463171	C	T	C21463171T	PYROXD1	NM_024854.5(PYROXD1):c.1116+309C>T	noncoding	Benign
12	21468431	C	T	C21468431T	PYROXD1	NM_024854.5(PYROXD1):c.1255-75C>T	noncoding	Benign
12	21468485	C	A	C21468485A	PYROXD1	NM_024854.5(PYROXD1):c.1255-21C>A	noncoding	Benign
12	21468498	A	G	A21468498G	PYROXD1	NM_024854.5(PYROXD1):c.1255-8A>G	noncoding	Benign
12	21468803	A	G	A21468803G	PYROXD1	NM_024854.5(PYROXD1):c.*49A>G	noncoding	Benign
12	21468883	A	C	A21468883C	PYROXD1	NM_024854.5(PYROXD1):c.*129A>C	noncoding	Benign
12	21468957	T	C	T21468957C	PYROXD1	NM_024854.5(PYROXD1):c.*203T>C	noncoding	Benign
12	21469993	T	C	T21469993C	RECQL	NM_002907.4(RECQL):c.*201A>G	noncoding	Benign
12	21470188	T	G	T21470188G	RECQL	NM_002907.4(RECQL):c.*6A>C	noncoding	Benign
12	21470288	T	A	T21470288A	RECQL	NM_002907.4(RECQL):c.1856A>T:p.Asn619Ile	coding	Benign
12	21470364	A	T	A21470364T	RECQL	NM_002907.4(RECQL):c.1798-18T>A	coding	Benign
12	21475570	C	T	C21475570T	RECQL	NM_002907.4(RECQL):c.1114G>A:p.Val372Ile	coding	Benign/Likely_benign
12	21475602	T	C	T21475602C	RECQL	NM_002907.4(RECQL):c.1099-17A>G	noncoding	Benign/Likely_benign
12	21475686	T	C	T21475686C	RECQL	NM_002907.4(RECQL):c.1088A>G:p.Asn363Ser	coding	Benign/Likely_benign
12	21476798	T	C	T21476798C	RECQL	NM_002907.4(RECQL):c.949+113A>G	noncoding	Benign
12	21477081	A	G	A21477081G	RECQL	NM_002907.4(RECQL):c.868-89T>C	noncoding	Benign
12	21477515	T	C	T21477515C	RECQL	NM_002907.4(RECQL):c.867+288A>G	noncoding	Benign
12	21486590	A	G	A21486590G	RECQL	NM_002907.4(RECQL):c.395-5T>C	noncoding	Benign
12	21486657	G	C	G21486657C	RECQL	NM_002907.4(RECQL):c.395-72C>G	noncoding	Benign
12	21486657	G	T	G21486657T	RECQL	NM_002907.4(RECQL):c.395-72C>A	noncoding	Benign
12	21486658	T	C	T21486658C	RECQL	NM_002907.4(RECQL):c.395-73A>G	noncoding	Benign
12	21486930	C	T	C21486930T	RECQL	NM_002907.4(RECQL):c.395-345G>A	noncoding	Benign
12	21491646	C	T	C21491646T	RECQL	NM_002907.4(RECQL):c.87G>A:p.Thr29=	coding	Benign/Likely_benign
12	21491655	T	C	T21491655C	RECQL	NM_002907.4(RECQL):c.78A>G:p.Gln26=	coding	Benign/Likely_benign
12	21491792	G	A	G21491792A	RECQL	NM_002907.4(RECQL):c.17-76C>T	noncoding	Benign
12	21501710	C	A	C21501710A	RECQL	NM_002907.3(RECQL):c.-586G>T	noncoding	Benign
12	21539024	C	T	C21539024T	GYS2	NM_021957.4(GYS2):c.1890+234G>A	noncoding	Benign
12	21539079	C	A	C21539079A	GYS2	NM_021957.4(GYS2):c.1890+179G>T	noncoding	Benign
12	21540309	A	T	A21540309T	GYS2	NM_021957.4(GYS2):c.1809+101T>A	noncoding	Benign
12	21540310	T	A	T21540310A	GYS2	NM_021957.4(GYS2):c.1809+100A>T	noncoding	Benign
12	21542690	A	G	A21542690G	GYS2	NM_021957.4(GYS2):c.1550-99T>C	noncoding	Benign
12	21546182	T	C	T21546182C	GYS2	NM_021957.4(GYS2):c.1549+162A>G	noncoding	Benign
12	21546557	C	G	C21546557G	GYS2	NM_021957.4(GYS2):c.1423-87G>C	noncoding	Benign
12	21546574	T	C	T21546574C	GYS2	NM_021957.4(GYS2):c.1423-104A>G	noncoding	Benign
12	21557985	G	A	G21557985A	GYS2	NM_021957.4(GYS2):c.1422+215C>T	noncoding	Benign
12	21557997	T	G	T21557997G	GYS2	NM_021957.4(GYS2):c.1422+203A>C	noncoding	Benign
12	21558075	C	A	C21558075A	GYS2	NM_021957.4(GYS2):c.1422+125G>T	noncoding	Benign
12	21558447	C	T	C21558447T	GYS2	NM_021957.4(GYS2):c.1309-134G>A	noncoding	Benign
12	21558451	G	C	G21558451C	GYS2	NM_021957.4(GYS2):c.1309-138C>G	noncoding	Benign
12	21558502	G	A	G21558502A	GYS2	NM_021957.4(GYS2):c.1309-189C>T	noncoding	Benign
12	21560216	C	A	C21560216A	GYS2	NM_021957.4(GYS2):c.1169+170G>T	noncoding	Benign
12	21560427	G	A	G21560427A	GYS2	NM_021957.4(GYS2):c.1128C>T:p.Asn376=	coding	Benign/Likely_benign
12	21560714	A	G	A21560714G	GYS2	NM_021957.4(GYS2):c.1063-222T>C	noncoding	Benign
12	21562867	A	G	A21562867G	GYS2	NM_021957.4(GYS2):c.1062+51T>C	noncoding	Benign
12	21562965	C	G	C21562965G	GYS2	NM_021957.4(GYS2):c.1015G>C:p.Ala339Pro	coding	Pathogenic/Likely_pathogenic
12	21563121	A	C	A21563121C	GYS2	NM_021957.4(GYS2):c.942-83T>G	noncoding	Benign
12	21563164	T	C	T21563164C	GYS2	NM_021957.4(GYS2):c.941+64A>G	noncoding	Benign
12	21563566	G	T	G21563566T	GYS2	NM_021957.4(GYS2):c.824-221C>A	noncoding	Benign
12	21568699	C	T	C21568699T	GYS2	NM_021957.4(GYS2):c.823+166G>A	noncoding	Benign
12	21574380	G	A	G21574380A	GYS2	NM_021957.4(GYS2):c.496-54C>T	noncoding	Benign
12	21574381	C	A	C21574381A	GYS2	NM_021957.4(GYS2):c.496-55G>T	noncoding	Benign
12	21576162	A	G	A21576162G	GYS2	NM_021957.4(GYS2):c.304-105T>C	noncoding	Benign
12	21580187	T	G	T21580187G	GYS2	NM_021957.4(GYS2):c.303+155A>C	noncoding	Benign
12	21604338	A	G	A21604338G	GYS2	NM_021957.4(GYS2):c.121+134T>C	noncoding	Benign
12	21604880	C	T	C21604880T	GYS2	Single_allele	noncoding	Benign
12	21765468	A	T	A21765468T	KCNJ8	NM_004982.4(KCNJ8):c.*255T>A	noncoding	Benign
12	21766491	G	A	G21766491A	KCNJ8	NM_004982.4(KCNJ8):c.507C>T:p.Ile169=	coding	Benign/Likely_benign
12	21773314	G	A	G21773314A	KCNJ8	NM_004982.4(KCNJ8):c.303C>T:p.Ile101=	coding	Benign
12	21806074	A	T	A21806074T	ABCC9	NM_020297.4(ABCC9):c.4450-14T>A	noncoding	Benign
12	21810240	A	G	A21810240G	ABCC9	NM_020297.4(ABCC9):c.4212-285T>C	noncoding	Benign
12	21816042	T	G	T21816042G	ABCC9	NM_020297.4(ABCC9):c.3893-149A>C	noncoding	Benign
12	21817283	C	T	C21817283T	ABCC9	NM_020297.4(ABCC9):c.3796G>A:p.Val1266Met	coding	Pathogenic/Likely_pathogenic
12	21818263	C	T	C21818263T	ABCC9	NM_020297.4(ABCC9):c.3670-12G>A	noncoding	Benign
12	21829002	A	G	A21829002G	ABCC9	NM_020297.4(ABCC9):c.3625T>C:p.Tyr1209His	coding	Pathogenic
12	21829191	C	T	C21829191T	ABCC9	NM_020297.4(ABCC9):c.3567-131G>A	noncoding	Benign
12	21835866	C	T	C21835866T	ABCC9	NM_020297.4(ABCC9):c.3566+2212G>A	noncoding	Benign
12	21842456	A	G	A21842456G	ABCC9	NM_020297.4(ABCC9):c.3331T>C:p.Leu1111=	coding	Benign/Likely_benign
12	21842621	C	A	C21842621A	ABCC9	NM_020297.4(ABCC9):c.3316-150G>T	noncoding	Benign
12	21844940	C	T	C21844940T	ABCC9	NM_020297.4(ABCC9):c.3097-25G>A	noncoding	Benign
12	21845078	C	T	C21845078T	ABCC9	NM_020297.4(ABCC9):c.3097-163G>A	noncoding	Benign
12	21845140	A	T	A21845140T	ABCC9	NM_020297.4(ABCC9):c.3097-225T>A	noncoding	Benign
12	21852506	C	T	C21852506T	ABCC9	NM_020297.4(ABCC9):c.2506-1G>A	coding	Pathogenic
12	21852576	A	G	A21852576G	ABCC9	NM_020297.4(ABCC9):c.2506-71T>C	noncoding	Benign
12	21859413	G	A	G21859413A	ABCC9	NM_020297.4(ABCC9):c.2505+173C>T	noncoding	Benign
12	21859647	C	G	C21859647G	ABCC9	NM_020297.4(ABCC9):c.2444G>C:p.Gly815Ala	coding	Pathogenic
12	21861229	C	T	C21861229T	ABCC9	NM_020297.4(ABCC9):c.2340-174G>A	noncoding	Benign
12	21861230	C	A	C21861230A	ABCC9	NM_020297.4(ABCC9):c.2340-175G>T	noncoding	Benign
12	21861231	C	A	C21861231A	ABCC9	NM_020297.4(ABCC9):c.2340-176G>T	noncoding	Benign
12	21861231	C	T	C21861231T	ABCC9	NM_020297.4(ABCC9):c.2340-176G>A	noncoding	Benign
12	21863284	G	A	G21863284A	ABCC9	NM_020297.4(ABCC9):c.2238-230C>T	noncoding	Benign
12	21872669	G	A	G21872669A	ABCC9	NM_020297.4(ABCC9):c.2154C>T:p.Ile718=	coding	Benign/Likely_benign
12	21872766	G	A	G21872766A	ABCC9	NM_020297.4(ABCC9):c.2093-36C>T	noncoding	Benign
12	21872968	A	G	A21872968G	ABCC9	NM_020297.4(ABCC9):c.2093-238T>C	noncoding	Benign
12	21875732	A	G	A21875732G	ABCC9	NM_020297.4(ABCC9):c.2020-6T>C	noncoding	Benign/Likely_benign
12	21882949	T	G	T21882949G	ABCC9	NM_020297.4(ABCC9):c.1912-76A>C	noncoding	Benign
12	21888216	T	C	T21888216C	ABCC9	NM_020297.4(ABCC9):c.1803-282A>G	noncoding	Benign
12	21894240	C	T	C21894240T	ABCC9	NM_020297.4(ABCC9):c.1660-66G>A	noncoding	Benign
12	21906437	A	G	A21906437G	ABCC9	NM_020297.4(ABCC9):c.1456-149T>C	noncoding	Benign
12	21907922	T	C	T21907922C	ABCC9	NM_020297.4(ABCC9):c.1455+155A>G	noncoding	Benign
12	21910403	A	G	A21910403G	ABCC9	NM_020297.4(ABCC9):c.1165-91T>C	noncoding	Benign
12	21910419	A	C	A21910419C	ABCC9	NM_020297.4(ABCC9):c.1165-107T>G	noncoding	Benign
12	21911037	A	G	A21911037G	ABCC9	NM_020297.4(ABCC9):c.1012-59T>C	noncoding	Benign
12	21917116	A	G	A21917116G	ABCC9	NM_020297.4(ABCC9):c.407-13T>C	noncoding	Benign/Likely_benign
12	21934042	A	C	A21934042C	ABCC9	NM_020297.4(ABCC9):c.143-119T>G	noncoding	Benign
12	21936414	G	A	G21936414A	ABCC9	NM_020297.4(ABCC9):c.142+119C>T	noncoding	Benign
12	21936514	A	T	A21936514T	ABCC9	NM_020297.4(ABCC9):c.142+19T>A	noncoding	Benign/Likely_benign
12	23536573	T	C	T23536573C	SOX5	NM_006940.6(SOX5):c.1868A>G:p.Tyr623Cys	coding	Pathogenic
12	23536634	G	A	G23536634A	SOX5	NM_006940.6(SOX5):c.1807C>T:p.Gln603Ter	coding	Pathogenic
12	23543182	C	T	C23543182T	SOX5	NM_006940.6(SOX5):c.1771+29G>A	noncoding	Benign
12	23543234	T	C	T23543234C	SOX5	NM_006940.6(SOX5):c.1748A>G:p.Asn583Ser	coding	Pathogenic
12	23543271	G	A	G23543271A	SOX5	NM_006940.6(SOX5):c.1711C>T:p.Arg571Trp	coding	Pathogenic/Likely_pathogenic
12	23543309	C	T	C23543309T	SOX5	NM_006940.6(SOX5):c.1673G>A:p.Arg558His	coding	Pathogenic/Likely_pathogenic
12	23543343	G	A	G23543343A	SOX5	NM_006940.6(SOX5):c.1639C>T:p.Arg547Ter	coding	Pathogenic
12	23546426	T	C	T23546426C	SOX5	NM_006940.6(SOX5):c.1489-2A>G	noncoding	Pathogenic
12	23640898	C	G	C23640898G	SOX5	NM_006940.6(SOX5):c.932-1G>C	coding	Pathogenic
12	23665566	T	C	T23665566C	SOX5	NM_006940.6(SOX5):c.811-2A>G	noncoding	Pathogenic
12	23845954	T	C	T23845954C	SOX5	NM_006940.6(SOX5):c.481+29A>G	noncoding	Benign
12	23846112	G	A	G23846112A	SOX5	NM_006940.6(SOX5):c.352C>T:p.Arg118Ter	coding	Pathogenic
12	25205716	A	T	A25205716T	KRAS	NM_033360.4(KRAS):c.*4200T>A	noncoding	Benign/Likely_benign
12	25209283	A	G	A25209283G	KRAS	NM_033360.4(KRAS):c.*633T>C	noncoding	Benign/Likely_benign
12	25225316	A	T	A25225316T	KRAS	NM_004985.5(KRAS):c.450+298T>A	noncoding	Benign
12	25225522	T	C	T25225522C	KRAS	NM_033360.4(KRAS):c.450+92A>G	noncoding	Benign
12	25225574	T	C	T25225574C	KRAS	NM_033360.4(KRAS):c.450+40A>G	noncoding	Benign
12	25225935	T	G	T25225935G	KRAS	NM_004985.5(KRAS):c.291-162A>C	noncoding	Benign
12	25227137	T	A	T25227137A	KRAS	NM_033360.4(KRAS):c.290+97A>T	noncoding	Benign
12	25227137	T	G	T25227137G	KRAS	NM_033360.4(KRAS):c.290+97A>C	noncoding	Benign
12	25227160	A	C	A25227160C	KRAS	NM_033360.4(KRAS):c.290+74T>G	noncoding	Benign
12	25245084	T	A	T25245084A	KRAS	NM_004985.5(KRAS):c.111+190A>T	noncoding	Benign
12	25245332	G	A	G25245332A	KRAS	NM_004985.5(KRAS):c.53C>T:p.Ala18Val	coding	Pathogenic
12	25245372	T	C	T25245372C	KRAS	NM_004985.5(KRAS):c.13A>G:p.Lys5Glu	coding	Pathogenic/Likely_pathogenic
12	25250589	C	G	C25250589G	KRAS	NM_004985.5(KRAS):c.-12+162G>C	noncoding	Benign
12	25250929	G	A	G25250929A	KRAS	NM_004985.5(KRAS):c.-190C>T	noncoding	Benign
12	26580129	T	C	T26580129C	ITPR2	NM_002223.4(ITPR2):c.4407A>G:p.Lys1469=	coding	Benign
12	26596898	G	A	G26596898A	ITPR2	NM_002223.4(ITPR2):c.4239C>T:p.Asp1413=	coding	Benign
12	26599964	C	T	C26599964T	ITPR2	NM_002223.4(ITPR2):c.3801+23G>A	noncoding	Benign
12	26631917	G	A	G26631917A	ITPR2	NM_002223.4(ITPR2):c.2883C>T:p.His961=	coding	Benign
12	26657844	T	C	T26657844C	ITPR2	NM_002223.4(ITPR2):c.2055A>G:p.Ser685=	coding	Benign
12	26715389	T	C	T26715389C	ITPR2	NM_002223.4(ITPR2):c.765A>G:p.Glu255=	coding	Benign
12	26790237	A	T	A26790237T	ITPR2	NM_002223.4(ITPR2):c.93-10T>A	noncoding	Benign
12	27647774	C	T	C27647774T	PPFIBP1	NM_003622.4(PPFIBP1):c.403C>T:p.Arg135Ter	coding	Pathogenic
12	27667321	G	A	G27667321A	PPFIBP1	NM_003622.4(PPFIBP1):c.1146+1G>A	coding	Pathogenic
12	27672464	C	T	C27672464T	PPFIBP1	NM_003622.4(PPFIBP1):c.1300C>T:p.Gln434Ter	coding	Pathogenic
12	27676485	C	T	C27676485T	PPFIBP1	NM_003622.4(PPFIBP1):c.1468C>T:p.Gln490Ter	coding	Pathogenic
12	27682500	T	C	T27682500C	PPFIBP1	NM_003622.4(PPFIBP1):c.2158+2T>C	noncoding	Pathogenic
12	27688340	C	T	C27688340T	PPFIBP1	NM_003622.4(PPFIBP1):c.2413C>T:p.Arg805Ter	coding	Pathogenic
12	27689147	C	T	C27689147T	PPFIBP1	NM_003622.4(PPFIBP1):c.2629C>T:p.Arg877Ter	coding	Pathogenic
12	27714794	G	A	G27714794A	MRPS35	NM_021821.4(MRPS35):c.127G>A:p.Gly43Arg	coding	Benign
12	27963563	G	C	G27963563C	PTHLH	NM_198965.2(PTHLH):c.309C>G:p.Tyr103Ter	coding	Pathogenic
12	27969169	C	G	C27969169G	PTHLH	NM_198965.2(PTHLH):c.101+225G>C	noncoding	Benign
12	27969451	A	C	A27969451C	PTHLH	NM_198965.2(PTHLH):c.44T>G:p.Leu15Arg	coding	Pathogenic
12	27969552	T	A	T27969552A	PTHLH	NM_198965.2(PTHLH):c.-22-36A>T	noncoding	Benign
12	30632012	C	T	C30632012T	IPO8	NM_006390.4(IPO8):c.2900-1G>A	coding	Pathogenic/Likely_pathogenic
12	30637041	C	T	C30637041T	IPO8	NM_006390.4(IPO8):c.2636G>A:p.Arg879Lys	coding	Benign
12	30649131	T	C	T30649131C	IPO8	NM_006390.4(IPO8):c.2268+6A>G	noncoding	Benign
12	30665215	C	T	C30665215T	IPO8	NM_006390.4(IPO8):c.1428+5G>A	noncoding	Pathogenic
12	30665228	G	A	G30665228A	IPO8	NM_006390.4(IPO8):c.1420C>T:p.Arg474Ter	coding	Pathogenic
12	30674707	C	T	C30674707T	IPO8	NM_006390.4(IPO8):c.776G>A:p.Trp259Ter	coding	Pathogenic
12	30695566	G	A	G30695566A	IPO8	NM_006390.4(IPO8):c.82C>T:p.Gln28Ter	coding	Pathogenic
12	31085141	G	A	G31085141A	DDX11	NM_030653.4(DDX11):c.638+15G>A	noncoding	Benign
12	31087991	A	G	A31087991G	DDX11	NM_030653.4(DDX11):c.684+8A>G	noncoding	Benign
12	31089465	T	C	T31089465C	DDX11	NM_030653.4(DDX11):c.855T>C:p.Cys285=	coding	Benign
12	31089506	A	G	A31089506G	DDX11	NM_030653.4(DDX11):c.880+16A>G	noncoding	Benign
12	31090045	C	A	C31090045A	DDX11	NM_030653.4(DDX11):c.1040C>A:p.Ala347Asp	coding	Benign
12	31094824	T	C	T31094824C	DDX11	NM_030653.4(DDX11):c.1482+2T>C	noncoding	Pathogenic
12	31101061	C	T	C31101061T	DDX11	NM_030653.4(DDX11):c.1983C>T:p.Leu661=	coding	Benign
12	31101818	C	T	C31101818T	DDX11	NM_030653.4(DDX11):c.2053-15C>T	noncoding	Benign
12	31102329	G	A	G31102329A	DDX11	NM_030653.4(DDX11):c.2271+18G>A	noncoding	Benign
12	31102471	C	T	C31102471T	DDX11	NM_030653.4(DDX11):c.2316C>T:p.Leu772=	coding	Benign
12	31102934	A	G	A31102934G	DDX11	NM_030653.4(DDX11):c.2373-2A>G	noncoding	Pathogenic
12	31103408	G	A	G31103408A	DDX11	NM_030653.4(DDX11):c.2536+13G>A	noncoding	Benign
12	31103583	C	T	C31103583T	DDX11	NM_030653.4(DDX11):c.2543C>T:p.Ala848Val	coding	Benign
12	32534418	A	G	A32534418G	FGD4	NM_001370298.3(FGD4):c.167-29719A>G	coding	Benign
12	32581779	G	A	G32581779A	FGD4	NM_001370298.3(FGD4):c.504-181G>A	noncoding	Benign
12	32581815	G	A	G32581815A	FGD4	NM_001370298.3(FGD4):c.504-145G>A	noncoding	Benign
12	32582556	G	T	G32582556T	FGD4	NM_001370298.3(FGD4):c.1011+89G>T	noncoding	Benign
12	32598235	G	T	G32598235T	FGD4	NM_001370298.3(FGD4):c.1012-262G>T	noncoding	Benign
12	32598430	G	A	G32598430A	FGD4	NM_001370298.3(FGD4):c.1012-67G>A	noncoding	Benign
12	32598560	G	A	G32598560A	FGD4	NM_001370298.3(FGD4):c.1075G>A:p.Val359Ile	coding	Benign/Likely_benign
12	32598766	A	G	A32598766G	FGD4	NM_001370298.3(FGD4):c.1101+180A>G	noncoding	Benign
12	32601311	C	T	C32601311T	FGD4	NM_001370298.3(FGD4):c.1135C>T:p.Arg379Ter	coding	Pathogenic
12	32601728	C	G	C32601728G	FGD4	NM_001370298.3(FGD4):c.1247+305C>G	noncoding	Benign
12	32601984	G	A	G32601984A	FGD4	NM_001370298.3(FGD4):c.1248-177G>A	noncoding	Benign
12	32610624	T	A	T32610624A	FGD4	NM_001370298.3(FGD4):c.1544-152T>A	noncoding	Benign
12	32610734	G	A	G32610734A	FGD4	NM_001370298.3(FGD4):c.1544-42G>A	noncoding	Benign
12	32620072	A	G	A32620072G	FGD4	NM_001370298.3(FGD4):c.1922+202A>G	noncoding	Benign
12	32620085	C	A	C32620085A	FGD4	NM_001370298.3(FGD4):c.1922+215C>A	noncoding	Benign
12	32624429	C	T	C32624429T	FGD4	NM_001370298.3(FGD4):c.1930C>T:p.Gln644Ter	coding	Pathogenic
12	32624832	G	A	G32624832A	FGD4	NM_001370298.3(FGD4):c.1954-144G>A	noncoding	Benign
12	32624955	T	G	T32624955G	FGD4	NM_001370298.3(FGD4):c.1954-21T>G	noncoding	Benign
12	32625105	A	G	A32625105G	FGD4	NM_001370298.3(FGD4):c.2046+37A>G	noncoding	Benign
12	32625516	T	C	T32625516C	FGD4	NM_001370298.3(FGD4):c.2047-138T>C	noncoding	Benign
12	32625529	G	A	G32625529A	FGD4	NM_001370298.3(FGD4):c.2047-125G>A	noncoding	Benign
12	32625686	G	A	G32625686A	FGD4	NM_001370298.3(FGD4):c.2079G>A:p.Trp693Ter	coding	Pathogenic
12	32625690	C	T	C32625690T	FGD4	NM_001370298.3(FGD4):c.2083C>T:p.Arg695Ter	coding	Pathogenic
12	32625808	T	G	T32625808G	FGD4	NM_001370298.3(FGD4):c.2172+29T>G	noncoding	Benign
12	32625896	G	T	G32625896T	FGD4	NM_001370298.3(FGD4):c.2172+117G>T	noncoding	Benign
12	32633378	G	C	G32633378C	FGD4	NM_001370298.3(FGD4):c.2173-171G>C	noncoding	Benign
12	32638403	A	G	A32638403G	FGD4	NM_001370298.3(FGD4):c.2314-252A>G	noncoding	Benign
12	32638526	C	T	C32638526T	FGD4	NM_001370298.3(FGD4):c.2314-129C>T	noncoding	Benign
12	32638862	G	A	G32638862A	FGD4	NM_001370298.3(FGD4):c.2454+67G>A	coding	Benign
12	32640049	A	C	A32640049C	FGD4	NM_001370298.3(FGD4):c.2455-227A>C	noncoding	Benign
12	32679092	C	G	C32679092G	DNM1L	Single_allele	noncoding	Benign
12	32679391	A	T	A32679391T	DNM1L	NM_012062.5(DNM1L):c.28A>T:p.Lys10Ter	coding	Pathogenic
12	32701271	C	T	C32701271T	DNM1L	NM_012062.5(DNM1L):c.103-144C>T	noncoding	Benign
12	32701292	T	A	T32701292A	DNM1L	NM_012062.5(DNM1L):c.103-123T>A	noncoding	Benign
12	32701488	C	A	C32701488A	DNM1L	NM_012062.5(DNM1L):c.176C>A:p.Thr59Asn	coding	Pathogenic
12	32701884	T	C	T32701884C	DNM1L	NM_012062.5(DNM1L):c.250+322T>C	noncoding	Benign
12	32710995	G	A	G32710995A	DNM1L	NM_012062.5(DNM1L):c.436G>A:p.Asp146Asn	coding	Pathogenic/Likely_pathogenic
12	32731447	G	A	G32731447A	DNM1L	NM_012062.5(DNM1L):c.1292G>A:p.Cys431Tyr	coding	Pathogenic
12	32732176	G	A	G32732176A	DNM1L	NM_012062.5(DNM1L):c.1446+233G>A	noncoding	Benign
12	32736858	A	G	A32736858G	DNM1L	NM_012062.5(DNM1L):c.1540-247A>G	noncoding	Benign
12	32736977	C	T	C32736977T	DNM1L	NM_012062.5(DNM1L):c.1540-128C>T	noncoding	Benign
12	32737617	T	C	T32737617C	DNM1L	NM_012062.5(DNM1L):c.1597-248T>C	noncoding	Benign
12	32740469	C	T	C32740469T	DNM1L	NM_012062.5(DNM1L):c.1945C>T:p.Arg649Ter	coding	Pathogenic
12	32743063	T	C	T32743063C	DNM1L	NM_012062.5(DNM1L):c.2155-291T>C	noncoding	Benign
12	32743431	G	C	G32743431C	DNM1L;YARS2	NM_012062.5(DNM1L):c.*21G>C	noncoding	Benign/Likely_benign
12	32743432	A	T	A32743432T	DNM1L;YARS2	NM_012062.5(DNM1L):c.*22A>T	noncoding	Benign/Likely_benign
12	32743681	C	G	C32743681G	DNM1L;YARS2	NM_012062.5(DNM1L):c.*271C>G	noncoding	Benign/Likely_benign
12	32755241	C	A	C32755241A	YARS2	NM_001040436.3(YARS2):c.634G>T:p.Glu212Ter	coding	Pathogenic/Likely_pathogenic
12	32792737	A	G	A32792737G	PKP2	NM_001005242.3(PKP2):c.2358-6T>C	noncoding	Benign/Likely_benign
12	32796111	A	G	A32796111G	PKP2	NM_001005242.3(PKP2):c.2355T>C:p.Asp785=	coding	Benign/Likely_benign
12	32796319	C	A	C32796319A	PKP2	NM_001005242.3(PKP2):c.2168-21G>T	noncoding	Benign
12	32802526	G	A	G32802526A	PKP2	NM_001005242.3(PKP2):c.2044C>T:p.Gln682Ter	coding	Pathogenic
12	32821284	T	C	T32821284C	PKP2	NM_001005242.3(PKP2):c.2013+72A>G	noncoding	Benign
12	32822472	T	A	T32822472A	PKP2	NM_001005242.3(PKP2):c.1834A>T:p.Lys612Ter	coding	Pathogenic
12	32822556	G	A	G32822556A	PKP2	NM_001005242.3(PKP2):c.1750C>T:p.Gln584Ter	coding	Pathogenic
12	32822568	C	A	C32822568A	PKP2	NM_001005242.3(PKP2):c.1738G>T:p.Glu580Ter	coding	Pathogenic
12	32850764	A	T	A32850764T	PKP2	NM_001005242.3(PKP2):c.1378+2T>A	noncoding	Pathogenic/Likely_pathogenic
12	32850910	G	A	G32850910A	PKP2	NM_001005242.3(PKP2):c.1234C>T:p.Gln412Ter	coding	Pathogenic/Likely_pathogenic
12	32850967	G	A	G32850967A	PKP2	NM_001005242.3(PKP2):c.1177C>T:p.Gln393Ter	coding	Pathogenic/Likely_pathogenic
12	32868960	G	A	G32868960A	PKP2	NM_001005242.3(PKP2):c.1137C>T:p.His379=	coding	Benign/Likely_benign
12	32878011	C	T	C32878011T	PKP2	NM_001005242.3(PKP2):c.869G>A:p.Trp290Ter	coding	Pathogenic
12	32878298	A	C	A32878298C	PKP2	NM_001005242.3(PKP2):c.582T>G:p.Tyr194Ter	coding	Pathogenic
12	32878298	A	T	A32878298T	PKP2	NM_001005242.3(PKP2):c.582T>A:p.Tyr194Ter	coding	Pathogenic
12	32878919	C	A	C32878919A	PKP2	NM_001005242.3(PKP2):c.336+1G>T	noncoding	Pathogenic
12	32879003	C	A	C32879003A	PKP2	NM_001005242.3(PKP2):c.253G>T:p.Glu85Ter	coding	Pathogenic
12	32896519	G	A	G32896519A	PKP2	NM_001005242.3(PKP2):c.213C>T:p.Ser71=	coding	Benign/Likely_benign
12	32896687	G	A	G32896687A	PKP2	NM_001005242.3(PKP2):c.45C>T:p.Thr15=	coding	Benign/Likely_benign
12	32896731	T	G	T32896731G	PKP2	NM_001005242.3(PKP2):c.1A>C:p.Met1Leu	coding	Pathogenic
12	32896781	C	A	C32896781A	PKP2	Single_allele	noncoding	Benign
12	32896821	C	A	C32896821A	PKP2	NM_004572.3(PKP2):c.-90G>T	noncoding	Benign/Likely_benign
12	38321198	A	G	A38321198G	ALG10B	NM_001013620.4(ALG10B):c.1407A>G:p.Gln469=	coding	Benign
12	40224884	T	C	T40224884C	LRRK2	Single_allele	noncoding	Benign
12	40225008	G	C	G40225008C	LRRK2	NM_198578.4(LRRK2):c.-124G>C	noncoding	Benign/Likely_benign
12	40225280	G	A	G40225280A	LRRK2	NM_198578.4(LRRK2):c.149G>A:p.Arg50His	coding	Benign
12	40225499	G	A	G40225499A	LRRK2	NM_198578.4(LRRK2):c.152-56G>A	noncoding	Benign
12	40225505	G	A	G40225505A	LRRK2	NM_198578.4(LRRK2):c.152-50G>A	noncoding	Benign
12	40225740	A	G	A40225740G	LRRK2	NM_198578.4(LRRK2):c.237+100A>G	noncoding	Benign
12	40232380	A	C	A40232380C	LRRK2	NM_198578.4(LRRK2):c.344A>C:p.His115Pro	coding	Benign/Likely_benign
12	40232383	A	G	A40232383G	LRRK2	NM_198578.4(LRRK2):c.347A>G:p.Gln116Arg	coding	Benign/Likely_benign
12	40232428	T	C	T40232428C	LRRK2	NM_198578.4(LRRK2):c.347+45T>C	noncoding	Benign
12	40232483	C	T	C40232483T	LRRK2	NM_198578.4(LRRK2):c.347+100C>T	noncoding	Benign
12	40235752	A	T	A40235752T	LRRK2	NM_198578.4(LRRK2):c.436+38A>T	noncoding	Benign
12	40235985	A	T	A40235985T	LRRK2	NM_198578.4(LRRK2):c.436+271A>T	noncoding	Benign
12	40237806	G	A	G40237806A	LRRK2	NM_198578.4(LRRK2):c.437-163G>A	noncoding	Benign
12	40237931	A	C	A40237931C	LRRK2	NM_198578.4(LRRK2):c.437-38A>C	noncoding	Benign
12	40238136	T	C	T40238136C	LRRK2	NM_198578.4(LRRK2):c.571+33T>C	noncoding	Benign
12	40238297	T	G	T40238297G	LRRK2	NM_198578.4(LRRK2):c.571+194T>G	noncoding	Benign
12	40238298	C	T	C40238298T	LRRK2	NM_198578.4(LRRK2):c.571+195C>T	noncoding	Benign
12	40240356	T	C	T40240356C	LRRK2	NM_198578.4(LRRK2):c.572-127T>C	noncoding	Benign
12	40243361	T	C	T40243361C	LRRK2	NM_198578.4(LRRK2):c.707-189T>C	noncoding	Benign
12	40243677	A	G	A40243677G	LRRK2	NM_198578.4(LRRK2):c.834A>G:p.Thr278=	coding	Benign/Likely_benign
12	40249666	C	T	C40249666T	LRRK2	NM_198578.4(LRRK2):c.839-160C>T	noncoding	Benign
12	40250950	A	G	A40250950G	LRRK2	NM_198578.4(LRRK2):c.959-282A>G	noncoding	Benign
12	40251072	C	T	C40251072T	LRRK2	NM_198578.4(LRRK2):c.959-160C>T	noncoding	Benign
12	40251794	A	G	A40251794G	LRRK2	NM_198578.4(LRRK2):c.1181+250A>G	noncoding	Benign
12	40251828	G	A	G40251828A	LRRK2	NM_198578.4(LRRK2):c.1181+284G>A	noncoding	Benign
12	40253146	G	A	G40253146A	LRRK2	NM_198578.4(LRRK2):c.1288+130G>A	noncoding	Benign
12	40257449	A	G	A40257449G	LRRK2	NM_198578.4(LRRK2):c.1418+72A>G	noncoding	Benign
12	40259911	C	T	C40259911T	LRRK2	NM_198578.4(LRRK2):c.1543+307C>T	noncoding	Benign
12	40263735	A	G	A40263735G	LRRK2	NM_198578.4(LRRK2):c.1544-54A>G	noncoding	Benign
12	40263969	C	G	C40263969G	LRRK2	NM_198578.4(LRRK2):c.1656+68C>G	noncoding	Benign
12	40274666	A	T	A40274666T	LRRK2	NM_198578.4(LRRK2):c.1740A>T:p.Leu580Phe	coding	Benign
12	40277616	C	A	C40277616A	LRRK2	NM_198578.4(LRRK2):c.1942-272C>A	noncoding	Benign
12	40283782	G	T	G40283782T	LRRK2	NM_198578.4(LRRK2):c.2242-93G>T	noncoding	Benign
12	40283853	C	T	C40283853T	LRRK2	NM_198578.4(LRRK2):c.2242-22C>T	noncoding	Benign
12	40287115	T	C	T40287115C	LRRK2	NM_198578.4(LRRK2):c.2501-236T>C	noncoding	Benign
12	40287139	A	G	A40287139G	LRRK2	NM_198578.4(LRRK2):c.2501-212A>G	noncoding	Benign
12	40287255	C	T	C40287255T	LRRK2	NM_198578.4(LRRK2):c.2501-96C>T	noncoding	Benign
12	40287684	A	G	A40287684G	LRRK2	NM_198578.4(LRRK2):c.2689+145A>G	noncoding	Benign
12	40293233	C	T	C40293233T	LRRK2	NM_198578.4(LRRK2):c.2690-312C>T	noncoding	Benign
12	40293294	C	T	C40293294T	LRRK2	NM_198578.4(LRRK2):c.2690-251C>T	noncoding	Benign
12	40293480	A	T	A40293480T	LRRK2	NM_198578.4(LRRK2):c.2690-65A>T	noncoding	Benign
12	40293552	A	C	A40293552C	LRRK2	NM_198578.4(LRRK2):c.2697A>C:p.Glu899Asp	coding	Benign/Likely_benign
12	40293852	A	G	A40293852G	LRRK2	NM_198578.4(LRRK2):c.2808+189A>G	noncoding	Benign
12	40293896	C	T	C40293896T	LRRK2	NM_198578.4(LRRK2):c.2808+233C>T	noncoding	Benign
12	40295119	A	G	A40295119G	LRRK2	NM_198578.4(LRRK2):c.2878+205A>G	noncoding	Benign
12	40295786	C	T	C40295786T	LRRK2	NM_198578.4(LRRK2):c.3096+142C>T	noncoding	Benign
12	40298109	T	G	T40298109G	LRRK2	NM_198578.4(LRRK2):c.3097-134T>G	noncoding	Benign
12	40298488	A	G	A40298488G	LRRK2	NM_198578.4(LRRK2):c.3342A>G:p.Leu1114=	coding	Benign/Likely_benign
12	40298921	A	G	A40298921G	LRRK2	NM_198578.4(LRRK2):c.3348-188A>G	noncoding	Benign
12	40299423	A	C	A40299423C	LRRK2	NM_198578.4(LRRK2):c.3496+166A>C	noncoding	Benign
12	40303070	T	C	T40303070C	LRRK2	NM_198578.4(LRRK2):c.3590+188T>C	noncoding	Benign
12	40303675	C	T	C40303675T	LRRK2	NM_198578.4(LRRK2):c.3591-273C>T	noncoding	Benign
12	40303859	T	A	T40303859A	LRRK2	NM_198578.4(LRRK2):c.3591-89T>A	noncoding	Benign
12	40308362	C	T	C40308362T	LRRK2	NM_198578.4(LRRK2):c.3960-105C>T	noncoding	Benign
12	40308969	C	T	C40308969T	LRRK2	NM_198578.4(LRRK2):c.4190-137C>T	noncoding	Benign
12	40309044	A	T	A40309044T	LRRK2	NM_198578.4(LRRK2):c.4190-62A>T	noncoding	Benign
12	40309350	C	A	C40309350A	LRRK2	NM_198578.4(LRRK2):c.4317+117C>A	noncoding	Benign
12	40310755	T	C	T40310755C	LRRK2	NM_198578.4(LRRK2):c.4536+106T>C	noncoding	Benign
12	40313846	A	G	A40313846G	LRRK2	NM_198578.4(LRRK2):c.4537-126A>G	noncoding	Benign
12	40315043	A	T	A40315043T	LRRK2	NM_198578.4(LRRK2):c.4739-169A>T	noncoding	Benign
12	40315090	T	C	T40315090C	LRRK2	NM_198578.4(LRRK2):c.4739-122T>C	noncoding	Benign
12	40315120	C	T	C40315120T	LRRK2	NM_198578.4(LRRK2):c.4739-92C>T	noncoding	Benign
12	40315383	A	G	A40315383G	LRRK2	NM_198578.4(LRRK2):c.4827+83A>G	noncoding	Benign
12	40315516	G	A	G40315516A	LRRK2	NM_198578.4(LRRK2):c.4827+216G>A	noncoding	Benign
12	40315526	G	A	G40315526A	LRRK2	NM_198578.4(LRRK2):c.4827+226G>A	noncoding	Benign
12	40319758	T	G	T40319758G	LRRK2	NM_198578.4(LRRK2):c.4828-230T>G	noncoding	Benign
12	40319793	T	C	T40319793C	LRRK2	NM_198578.4(LRRK2):c.4828-195T>C	noncoding	Benign
12	40319957	T	C	T40319957C	LRRK2	NM_198578.4(LRRK2):c.4828-31T>C	noncoding	Benign
12	40320188	T	A	T40320188A	LRRK2	NM_198578.4(LRRK2):c.5015+13T>A	noncoding	Benign
12	40320207	A	G	A40320207G	LRRK2	NM_198578.4(LRRK2):c.5015+32A>G	noncoding	Benign
12	40320386	G	A	G40320386A	LRRK2	NM_198578.4(LRRK2):c.5015+211G>A	noncoding	Benign
12	40320464	T	C	T40320464C	LRRK2	NM_198578.4(LRRK2):c.5015+289T>C	noncoding	Benign
12	40320465	G	T	G40320465T	LRRK2	NM_198578.4(LRRK2):c.5015+290G>T	noncoding	Benign
12	40320816	C	T	C40320816T	LRRK2	NM_198578.4(LRRK2):c.5016-218C>T	noncoding	Benign
12	40320983	A	T	A40320983T	LRRK2	NM_198578.4(LRRK2):c.5016-51A>T	noncoding	Benign
12	40321098	C	T	C40321098T	LRRK2	NM_198578.4(LRRK2):c.5080C>T:p.Leu1694=	coding	Benign/Likely_benign
12	40321211	T	A	T40321211A	LRRK2	NM_198578.4(LRRK2):c.5170+23T>A	noncoding	Benign
12	40321446	T	C	T40321446C	LRRK2	NM_198578.4(LRRK2):c.5170+258T>C	noncoding	Benign
12	40321500	G	A	G40321500A	LRRK2	NM_198578.4(LRRK2):c.5170+312G>A	noncoding	Benign
12	40321788	C	T	C40321788T	LRRK2	NM_198578.4(LRRK2):c.5171-247C>T	noncoding	Benign
12	40322213	C	T	C40322213T	LRRK2	NM_198578.4(LRRK2):c.5317+32C>T	noncoding	Benign
12	40322386	G	A	G40322386A	LRRK2	NM_198578.4(LRRK2):c.5385G>A:p.Leu1795=	coding	Benign/Likely_benign
12	40322530	A	C	A40322530C	LRRK2	NM_198578.4(LRRK2):c.5509+20A>C	noncoding	Benign/Likely_benign
12	40322672	T	C	T40322672C	LRRK2	NM_198578.4(LRRK2):c.5509+162T>C	noncoding	Benign
12	40322892	A	G	A40322892G	LRRK2	NM_198578.4(LRRK2):c.5510-268A>G	noncoding	Benign
12	40323341	G	A	G40323341A	LRRK2	NM_198578.4(LRRK2):c.5656+35G>A	noncoding	Benign
12	40328650	A	G	A40328650G	LRRK2	NM_198578.4(LRRK2):c.5757+190A>G	noncoding	Benign
12	40328655	G	A	G40328655A	LRRK2	NM_198578.4(LRRK2):c.5757+195G>A	noncoding	Benign
12	40328747	C	A	C40328747A	LRRK2	NM_198578.4(LRRK2):c.5757+287C>A	noncoding	Benign
12	40335205	C	T	C40335205T	LRRK2	NM_198578.4(LRRK2):c.5948+48C>T	noncoding	Benign
12	40337804	G	A	G40337804A	LRRK2	NM_198578.4(LRRK2):c.5949-2490G>A	noncoding	Benign
12	40340255	A	G	A40340255G	LRRK2	NM_198578.4(LRRK2):c.5949-39A>G	noncoding	Benign
12	40340399	C	T	C40340399T	LRRK2	NM_198578.4(LRRK2):c.6054C>T:p.Tyr2018=	coding	Benign/Likely_benign
12	40346563	G	T	G40346563T	LRRK2	NM_198578.4(LRRK2):c.6110-190G>T	noncoding	Benign
12	40347033	T	G	T40347033G	LRRK2	NM_198578.4(LRRK2):c.6280+110T>G	noncoding	Benign
12	40347145	A	G	A40347145G	LRRK2	NM_198578.4(LRRK2):c.6280+222A>G	noncoding	Benign
12	40348203	T	C	T40348203C	LRRK2	NM_198578.4(LRRK2):c.6281-206T>C	noncoding	Benign
12	40348204	A	C	A40348204C	LRRK2	NM_198578.4(LRRK2):c.6281-205A>C	noncoding	Benign
12	40348271	C	T	C40348271T	LRRK2	NM_198578.4(LRRK2):c.6281-138C>T	noncoding	Benign
12	40348561	G	A	G40348561A	LRRK2	NM_198578.4(LRRK2):c.6381+52G>A	noncoding	Benign
12	40351379	T	C	T40351379C	LRRK2	NM_198578.4(LRRK2):c.6382-160T>C	noncoding	Benign
12	40354127	C	T	C40354127T	LRRK2	NM_198578.4(LRRK2):c.6577-172C>T	noncoding	Benign
12	40354593	G	A	G40354593A	LRRK2	NM_198578.4(LRRK2):c.6770+101G>A	noncoding	Benign
12	40354745	A	G	A40354745G	LRRK2	NM_198578.4(LRRK2):c.6770+253A>G	noncoding	Benign
12	40359187	G	A	G40359187A	LRRK2	NM_198578.4(LRRK2):c.6844-73G>A	noncoding	Benign
12	40359501	A	G	A40359501G	LRRK2	NM_198578.4(LRRK2):c.7028+57A>G	noncoding	Benign
12	40363361	A	G	A40363361G	LRRK2	NM_198578.4(LRRK2):c.7029-41A>G	noncoding	Benign
12	40363731	A	G	A40363731G	LRRK2	NM_198578.4(LRRK2):c.7181+177A>G	noncoding	Benign
12	40364815	T	G	T40364815G	LRRK2	NM_198578.4(LRRK2):c.7182-27T>G	noncoding	Benign
12	40364980	A	G	A40364980G	LRRK2	NM_198578.4(LRRK2):c.7320A>G:p.Ser2440=	coding	Benign/Likely_benign
12	40366962	T	C	T40366962C	LRRK2	NM_198578.4(LRRK2):c.7391-44T>C	noncoding	Benign
12	40367092	G	C	G40367092C	LRRK2	NM_198578.4(LRRK2):c.7462+15G>C	noncoding	Benign
12	40367205	A	G	A40367205G	LRRK2	NM_198578.4(LRRK2):c.7462+128A>G	noncoding	Benign
12	40367513	A	T	A40367513T	LRRK2	NM_198578.4(LRRK2):c.7463-131A>T	noncoding	Benign
12	40367556	A	G	A40367556G	LRRK2	NM_198578.4(LRRK2):c.7463-88A>G	noncoding	Benign
12	40692480	C	A	C40692480A	CNTN1	NM_001843.4(CNTN1):c.-189C>A	noncoding	Benign
12	40692833	A	G	A40692833G	CNTN1	NM_001843.4(CNTN1):c.-77+241A>G	noncoding	Benign
12	40908306	C	G	C40908306G	CNTN1	NM_001843.4(CNTN1):c.-76-51C>G	noncoding	Benign
12	40924864	T	A	T40924864A	CNTN1	NM_001843.4(CNTN1):c.496+212T>A	noncoding	Benign
12	40929779	G	T	G40929779T	CNTN1	NM_001843.4(CNTN1):c.497-17G>T	noncoding	Benign/Likely_benign
12	40933624	T	G	T40933624G	CNTN1	NM_001843.4(CNTN1):c.803+64T>G	noncoding	Benign
12	40933625	G	T	G40933625T	CNTN1	NM_001843.4(CNTN1):c.803+65G>T	noncoding	Benign
12	40933766	T	A	T40933766A	CNTN1	NM_001843.4(CNTN1):c.873T>A:p.Ser291=	coding	Benign/Likely_benign
12	40937498	C	A	C40937498A	CNTN1	NM_001843.4(CNTN1):c.1111-72C>A	noncoding	Benign
12	40937923	A	T	A40937923T	CNTN1	NM_001843.4(CNTN1):c.1228+236A>T	noncoding	Benign
12	40939558	A	G	A40939558G	CNTN1	NM_001843.4(CNTN1):c.1379+73A>G	noncoding	Benign
12	40943743	G	T	G40943743T	CNTN1	NM_001843.4(CNTN1):c.1507+19G>T	noncoding	Benign/Likely_benign
12	40981193	T	A	T40981193A	CNTN1	NM_001843.4(CNTN1):c.1963+126T>A	noncoding	Benign
12	41014332	G	A	G41014332A	CNTN1	NM_001843.4(CNTN1):c.2184+34G>A	noncoding	Benign
12	41016463	C	G	C41016463G	CNTN1	NM_001843.4(CNTN1):c.2185-219C>G	noncoding	Benign
12	41070201	G	A	G41070201A	CNTN1	NM_001843.4(CNTN1):c.*166G>A	noncoding	Benign
12	42459548	A	G	A42459548G	PRICKLE1	NM_153026.3(PRICKLE1):c.*261T>C	noncoding	Benign
12	42459718	A	G	A42459718G	PRICKLE1	NM_153026.3(PRICKLE1):c.*91T>C	noncoding	Benign
12	42469369	C	G	C42469369G	PRICKLE1	NM_153026.3(PRICKLE1):c.384+81G>C	noncoding	Benign
12	42469714	G	A	G42469714A	PRICKLE1	NM_153026.3(PRICKLE1):c.247-127C>T	noncoding	Benign
12	42470643	C	T	C42470643T	PRICKLE1	NM_153026.3(PRICKLE1):c.133-284G>A	noncoding	Benign
12	42483163	G	T	G42483163T	PRICKLE1	NM_153026.3(PRICKLE1):c.-48-10599C>A	noncoding	Benign
12	42483565	G	A	G42483565A	PRICKLE1	NM_153026.3(PRICKLE1):c.-48-11001C>T	noncoding	Benign
12	42589336	C	G	C42589336G	PRICKLE1	NM_153026.3(PRICKLE1):c.-49+129G>C	noncoding	Benign
12	42589597	C	T	C42589597T	PRICKLE1	NM_153026.3(PRICKLE1):c.-181G>A	noncoding	Benign
12	43771383	A	G	A43771383G	IRAK4	NM_016123.4(IRAK4):c.307+18A>G	noncoding	Benign
12	43771627	T	A	T43771627A	IRAK4	NM_016123.4(IRAK4):c.307+262T>A	noncoding	Benign
12	43772054	C	T	C43772054T	IRAK4	NM_016123.4(IRAK4):c.308-126C>T	noncoding	Benign
12	43772133	C	T	C43772133T	IRAK4	NM_016123.4(IRAK4):c.308-47C>T	noncoding	Benign
12	43772236	C	T	C43772236T	IRAK4	NM_016123.4(IRAK4):c.364C>T:p.Gln122Ter	coding	Pathogenic
12	43772378	A	C	A43772378C	IRAK4	NM_016123.4(IRAK4):c.490+16A>C	noncoding	Benign
12	43773220	T	A	T43773220A	IRAK4	NM_016123.4(IRAK4):c.651+148T>A	noncoding	Benign
12	43777799	A	T	A43777799T	IRAK4	NM_016123.4(IRAK4):c.831+55A>T	noncoding	Benign
12	43777841	T	G	T43777841G	IRAK4	NM_016123.4(IRAK4):c.831+97T>G	noncoding	Benign
12	43778320	A	G	A43778320G	IRAK4	NM_016123.4(IRAK4):c.941+18A>G	noncoding	Benign
12	43782131	C	T	C43782131T	IRAK4	NM_016123.4(IRAK4):c.942-176C>T	noncoding	Benign
12	43782543	A	C	A43782543C	IRAK4	NM_016123.4(IRAK4):c.1125+53A>C	noncoding	Benign
12	43782628	T	C	T43782628C	IRAK4	NM_016123.4(IRAK4):c.1125+138T>C	noncoding	Benign
12	43783643	A	T	A43783643T	IRAK4	NM_016123.4(IRAK4):c.1126-19A>T	noncoding	Benign
12	43783644	T	A	T43783644A	IRAK4	NM_016123.4(IRAK4):c.1126-18T>A	noncoding	Benign
12	43783671	G	T	G43783671T	IRAK4	NM_016123.4(IRAK4):c.1135G>T:p.Glu379Ter	coding	Pathogenic
12	43786283	A	G	A43786283G	IRAK4	NM_016123.4(IRAK4):c.1189-116A>G	noncoding	Benign
12	43786500	C	G	C43786500G	IRAK4	NM_016123.4(IRAK4):c.1290C>G:p.Tyr430Ter	coding	Pathogenic
12	45216643	C	T	C45216643T	ANO6	NM_001025356.3(ANO6):c.70+252C>T	noncoding	Benign
12	45270430	G	A	G45270430A	ANO6	NM_001025356.3(ANO6):c.71-31584G>A	noncoding	Benign
12	45293197	A	C	A45293197C	ANO6	NM_001025356.3(ANO6):c.71-8817A>C	noncoding	Benign
12	45301952	C	A	C45301952A	ANO6	NM_001025356.3(ANO6):c.71-62C>A	noncoding	Benign
12	45331006	G	A	G45331006A	ANO6	NM_001025356.3(ANO6):c.151-289G>A	noncoding	Benign
12	45348734	A	G	A45348734G	ANO6	NM_001025356.3(ANO6):c.747+103A>G	noncoding	Benign
12	45378251	G	A	G45378251A	ANO6	NM_001025356.3(ANO6):c.1165+138G>A	noncoding	Benign
12	45388305	T	C	T45388305C	ANO6	NM_001025356.3(ANO6):c.1308+2T>C	noncoding	Pathogenic
12	45401729	C	A	C45401729A	ANO6	NM_001025356.3(ANO6):c.1387-66C>A	noncoding	Benign
12	45403537	G	A	G45403537A	ANO6	NM_001025356.3(ANO6):c.1880+1G>A	coding	Pathogenic
12	45403640	T	A	T45403640A	ANO6	NM_001025356.3(ANO6):c.1880+104T>A	noncoding	Benign
12	45409326	G	A	G45409326A	ANO6	NM_001025356.3(ANO6):c.1881-31G>A	noncoding	Benign
12	45409787	A	G	A45409787G	ANO6	NM_001025356.3(ANO6):c.2011+300A>G	noncoding	Benign
12	45416872	C	T	C45416872T	ANO6	NM_001025356.3(ANO6):c.2185C>T:p.Gln729Ter	coding	Pathogenic
12	45417151	G	A	G45417151A	ANO6	NM_001025356.3(ANO6):c.2217+247G>A	noncoding	Benign
12	45422668	G	A	G45422668A	ANO6	NM_001025356.3(ANO6):c.2421-289G>A	noncoding	Benign
12	45422699	A	G	A45422699G	ANO6	NM_001025356.3(ANO6):c.2421-258A>G	noncoding	Benign
12	45439972	G	A	G45439972A	ANO6	NM_001142679.2(ANO6):c.*34G>A	noncoding	Benign
12	45729823	C	G	C45729823G	ARID2	NM_152641.4(ARID2):c.-14C>G	noncoding	Benign
12	45731346	G	T	G45731346T	ARID2	NM_152641.4(ARID2):c.284+32G>T	noncoding	Benign
12	45811425	G	A	G45811425A	ARID2	NM_152641.4(ARID2):c.292G>A:p.Glu98Lys	coding	Benign
12	45817613	T	C	T45817613C	ARID2	NM_152641.4(ARID2):c.419-57T>C	noncoding	Benign
12	45821380	G	A	G45821380A	ARID2	NM_152641.4(ARID2):c.638-40G>A	noncoding	Benign
12	45821457	G	A	G45821457A	ARID2	NM_152641.4(ARID2):c.675G>A:p.Trp225Ter	coding	Pathogenic
12	45837554	G	T	G45837554T	ARID2	NM_152641.4(ARID2):c.1177G>T:p.Glu393Ter	coding	Pathogenic
12	45839328	G	C	G45839328C	ARID2	NM_152641.4(ARID2):c.1331-1G>C	noncoding	Pathogenic
12	45846938	G	A	G45846938A	ARID2	NM_152641.4(ARID2):c.1580+1G>A	coding	Pathogenic
12	45850500	C	T	C45850500T	ARID2	NM_152641.4(ARID2):c.2377C>T:p.Gln793Ter	coding	Pathogenic
12	45850581	C	T	C45850581T	ARID2	NM_152641.4(ARID2):c.2458C>T:p.Gln820Ter	coding	Pathogenic
12	45850857	C	T	C45850857T	ARID2	NM_152641.4(ARID2):c.2734C>T:p.Gln912Ter	coding	Pathogenic
12	45850890	C	T	C45850890T	ARID2	NM_152641.4(ARID2):c.2767C>T:p.Gln923Ter	coding	Pathogenic
12	45851294	G	A	G45851294A	ARID2	NM_152641.4(ARID2):c.3171G>A:p.Ser1057=	coding	Benign
12	45851628	G	A	G45851628A	ARID2	NM_152641.4(ARID2):c.3505G>A:p.Gly1169Ser	coding	Pathogenic
12	45851937	C	T	C45851937T	ARID2	NM_152641.4(ARID2):c.3814C>T:p.Arg1272Ter	coding	Pathogenic
12	45852732	A	T	A45852732T	ARID2	NM_152641.4(ARID2):c.4609A>T:p.Arg1537Ter	coding	Pathogenic
12	45852855	C	T	C45852855T	ARID2	NM_152641.4(ARID2):c.4732C>T:p.Gln1578Ter	coding	Pathogenic
12	45891883	C	T	C45891883T	ARID2	NM_152641.4(ARID2):c.5026C>T:p.Gln1676Ter	coding	Pathogenic
12	45891886	C	T	C45891886T	ARID2	NM_152641.4(ARID2):c.5029C>T:p.Arg1677Ter	coding	Pathogenic
12	45891966	A	G	A45891966G	ARID2	NM_152641.4(ARID2):c.5062-45A>G	noncoding	Benign
12	47845054	C	A	C47845054A	VDR	NM_000376.3(VDR):c.1025-49G>T	noncoding	Benign
12	47845100	C	T	C47845100T	VDR	NM_000376.3(VDR):c.1025-95G>A	noncoding	Benign
12	47845117	C	G	C47845117G	VDR	NM_000376.3(VDR):c.1025-112G>C	noncoding	Benign
12	47846052	C	T	C47846052T	VDR	NM_000376.3(VDR):c.1024+283G>A	noncoding	Benign
12	47856077	G	A	G47856077A	VDR	NM_000376.3(VDR):c.584-276C>T	noncoding	Benign
12	47857011	T	A	T47857011A	VDR	NM_000376.3(VDR):c.583+118A>T	noncoding	Benign
12	47857750	C	T	C47857750T	VDR	NM_000376.3(VDR):c.278-62G>A	noncoding	Benign
12	47857759	G	A	G47857759A	VDR	NM_000376.3(VDR):c.278-71C>T	noncoding	Benign
12	47865107	G	A	G47865107A	VDR	NM_000376.3(VDR):c.217C>T:p.Arg73Ter	coding	Pathogenic
12	47865176	G	A	G47865176A	VDR	NM_000376.3(VDR):c.148C>T:p.Arg50Ter	coding	Pathogenic
12	47865343	C	T	C47865343T	VDR	NM_000376.3(VDR):c.147-166G>A	noncoding	Benign
12	47878678	G	A	G47878678A	VDR	NM_000376.3(VDR):c.146+290C>T	noncoding	Benign
12	47879277	A	G	A47879277G	VDR	NM_000376.3(VDR):c.-2-162T>C	noncoding	Benign
12	47879424	T	C	T47879424C	VDR	NM_000376.3(VDR):c.-2-309A>G	noncoding	Benign
12	47879436	T	G	T47879436G	VDR	NM_000376.3(VDR):c.-2-321A>C	noncoding	Benign
12	47882438	C	T	C47882438T	VDR	NM_000376.3(VDR):c.-3+256G>A	noncoding	Benign
12	47882646	T	C	T47882646C	VDR	NM_000376.3(VDR):c.-3+48A>G	noncoding	Benign
12	47973466	C	A	C47973466A	COL2A1	NM_001844.5(COL2A1):c.4405G>T:p.Asp1469Tyr	coding	Pathogenic
12	47974087	A	C	A47974087C	COL2A1	NM_001844.5(COL2A1):c.4317+2T>G	noncoding	Pathogenic
12	47974088	C	A	C47974088A	COL2A1	NM_001844.5(COL2A1):c.4317+1G>T	noncoding	Pathogenic
12	47974113	G	T	G47974113T	COL2A1	NM_001844.5(COL2A1):c.4293C>A:p.Tyr1431Ter	coding	Pathogenic
12	47974235	A	G	A47974235G	COL2A1	NM_001844.5(COL2A1):c.4171T>C:p.Tyr1391His	coding	Pathogenic
12	47974247	G	A	G47974247A	COL2A1	NM_001844.5(COL2A1):c.4159C>T:p.Gln1387Ter	coding	Pathogenic
12	47974273	A	T	A47974273T	COL2A1	NM_001844.5(COL2A1):c.4133T>A:p.Leu1378Gln	coding	Pathogenic
12	47974332	C	G	C47974332G	COL2A1	NM_001844.5(COL2A1):c.4075-1G>C	coding	Pathogenic
12	47974674	C	T	C47974674T	COL2A1	NM_001844.5(COL2A1):c.4074+1G>A	noncoding	Pathogenic
12	47974780	G	T	G47974780T	COL2A1	NM_001844.5(COL2A1):c.3969C>A:p.Cys1323Ter	coding	Pathogenic
12	47974781	C	G	C47974781G	COL2A1	NM_001844.5(COL2A1):c.3968G>C:p.Cys1323Ser	coding	Pathogenic
12	47974799	A	C	A47974799C	COL2A1	NM_001844.5(COL2A1):c.3950T>G:p.Met1317Arg	coding	Pathogenic
12	47974852	C	A	C47974852A	COL2A1	NM_001844.5(COL2A1):c.3897G>T:p.Trp1299Cys	coding	Pathogenic
12	47974853	C	T	C47974853T	COL2A1	NM_001844.5(COL2A1):c.3896G>A:p.Trp1299Ter	coding	Pathogenic
12	47975104	G	A	G47975104A	COL2A1	NM_001844.5(COL2A1):c.3886+213C>T	noncoding	Benign
12	47975316	C	T	C47975316T	COL2A1	NM_001844.5(COL2A1):c.3886+1G>A	noncoding	Pathogenic
12	47975410	G	A	G47975410A	COL2A1	NM_001844.5(COL2A1):c.3793C>T:p.Gln1265Ter	coding	Pathogenic
12	47975494	G	A	G47975494A	COL2A1	NM_001844.5(COL2A1):c.3709C>T:p.Gln1237Ter	coding	Pathogenic
12	47975962	C	G	C47975962G	COL2A1	NM_001844.5(COL2A1):c.3597+1G>C	noncoding	Pathogenic
12	47975962	C	T	C47975962T	COL2A1	NM_001844.5(COL2A1):c.3597+1G>A	noncoding	Pathogenic
12	47976006	C	T	C47976006T	COL2A1	NM_001844.5(COL2A1):c.3554G>A:p.Gly1185Glu	coding	Pathogenic
12	47976034	C	T	C47976034T	COL2A1	NM_001844.5(COL2A1):c.3526G>A:p.Gly1176Ser	coding	Pathogenic
12	47976070	C	T	C47976070T	COL2A1	NM_001844.5(COL2A1):c.3490G>A:p.Gly1164Ser	coding	Pathogenic
12	47976140	G	A	G47976140A	COL2A1	NM_001844.5(COL2A1):c.3490-70C>T	noncoding	Benign
12	47976540	C	G	C47976540G	COL2A1	NM_001844.5(COL2A1):c.3463G>C:p.Gly1155Arg	coding	Pathogenic
12	47976540	C	T	C47976540T	COL2A1	NM_001844.5(COL2A1):c.3463G>A:p.Gly1155Ser	coding	Pathogenic
12	47976820	C	T	C47976820T	COL2A1	NM_001844.5(COL2A1):c.3427G>A:p.Gly1143Ser	coding	Pathogenic
12	47976901	C	A	C47976901A	COL2A1	NM_001844.5(COL2A1):c.3346G>T:p.Gly1116Cys	coding	Pathogenic
12	47976919	C	A	C47976919A	COL2A1	NM_001844.5(COL2A1):c.3328G>T:p.Gly1110Cys	coding	Pathogenic
12	47977146	C	A	C47977146A	COL2A1	NM_001844.5(COL2A1):c.3283G>T:p.Gly1095Cys	coding	Pathogenic
12	47977149	G	A	G47977149A	COL2A1	NM_001844.5(COL2A1):c.3280C>T:p.Gln1094Ter	coding	Pathogenic
12	47977358	C	T	C47977358T	COL2A1	NM_001844.5(COL2A1):c.3235G>A:p.Ala1079Thr	coding	Benign/Likely_benign
12	47977599	C	A	C47977599A	COL2A1	NM_001844.5(COL2A1):c.3165+1G>T	noncoding	Pathogenic
12	47977644	C	T	C47977644T	COL2A1	NM_001844.5(COL2A1):c.3121G>A:p.Gly1041Ser	coding	Pathogenic
12	47977812	G	A	G47977812A	COL2A1	NM_001844.5(COL2A1):c.3112-159C>T	noncoding	Benign
12	47978008	A	G	A47978008G	COL2A1	NM_001844.5(COL2A1):c.3111+2T>C	noncoding	Pathogenic
12	47978118	C	T	C47978118T	COL2A1	NM_001844.5(COL2A1):c.3004-1G>A	coding	Pathogenic
12	47978271	G	A	G47978271A	COL2A1	NM_001844.5(COL2A1):c.3003+20C>T	noncoding	Benign
12	47978353	C	T	C47978353T	COL2A1	NM_001844.5(COL2A1):c.2941G>A:p.Gly981Ser	coding	Pathogenic
12	47978392	C	A	C47978392A	COL2A1	NM_001844.5(COL2A1):c.2902G>T:p.Glu968Ter	coding	Pathogenic
12	47978596	C	G	C47978596G	COL2A1	NM_001844.5(COL2A1):c.2895+1G>C	noncoding	Pathogenic
12	47978605	C	T	C47978605T	COL2A1	NM_001844.5(COL2A1):c.2887G>A:p.Gly963Ser	coding	Pathogenic
12	47978630	G	A	G47978630A	COL2A1	NM_001844.5(COL2A1):c.2862C>T:p.Gly954=	coding	Pathogenic/Likely_pathogenic
12	47978694	C	T	C47978694T	COL2A1	NM_001844.5(COL2A1):c.2798G>A:p.Gly933Glu	coding	Pathogenic
12	47978712	C	A	C47978712A	COL2A1	NM_001844.5(COL2A1):c.2780G>T:p.Gly927Val	coding	Pathogenic
12	47978857	G	A	G47978857A	COL2A1	NM_001844.5(COL2A1):c.2734-99C>T	noncoding	Benign
12	47979518	C	G	C47979518G	COL2A1	NM_001844.5(COL2A1):c.2726G>C:p.Gly909Ala	coding	Pathogenic
12	47980579	C	A	C47980579A	COL2A1	NM_001844.5(COL2A1):c.2600G>T:p.Gly867Val	coding	Pathogenic/Likely_pathogenic
12	47980947	G	T	G47980947T	COL2A1	NM_001844.5(COL2A1):c.2485C>A:p.Pro829Thr	coding	Pathogenic
12	47980987	T	G	T47980987G	COL2A1	NM_001844.5(COL2A1):c.2464-19A>C	noncoding	Benign
12	47981149	A	T	A47981149T	COL2A1	NM_001844.5(COL2A1):c.2464-181T>A	noncoding	Benign
12	47981415	G	T	G47981415T	COL2A1	NM_001844.5(COL2A1):c.2410-19C>A	noncoding	Benign
12	47981475	G	T	G47981475T	COL2A1	NM_001844.5(COL2A1):c.2410-79C>A	noncoding	Benign
12	47981885	C	A	C47981885A	COL2A1	NM_001844.5(COL2A1):c.2356-56G>T	noncoding	Benign
12	47982115	C	T	C47982115T	COL2A1	NM_001844.5(COL2A1):c.2347G>A:p.Gly783Ser	coding	Pathogenic
12	47982354	G	A	G47982354A	COL2A1	NM_001844.5(COL2A1):c.2301+148C>T	noncoding	Benign
12	47982528	C	G	C47982528G	COL2A1	NM_001844.5(COL2A1):c.2275G>C:p.Gly759Arg	coding	Pathogenic
12	47982546	C	T	C47982546T	COL2A1	NM_001844.5(COL2A1):c.2257G>A:p.Gly753Ser	coding	Pathogenic
12	47982555	C	T	C47982555T	COL2A1	NM_001844.5(COL2A1):c.2248G>A:p.Gly750Arg	coding	Pathogenic
12	47982558	G	A	G47982558A	COL2A1	NM_001844.5(COL2A1):c.2245C>T:p.Gln749Ter	coding	Pathogenic
12	47982590	C	A	C47982590A	COL2A1	NM_001844.5(COL2A1):c.2213G>T:p.Gly738Val	coding	Pathogenic
12	47982639	G	A	G47982639A	COL2A1	NM_001844.5(COL2A1):c.2194-30C>T	noncoding	Benign
12	47982882	C	T	C47982882T	COL2A1	NM_001844.5(COL2A1):c.2159G>A:p.Gly720Asp	coding	Pathogenic/Likely_pathogenic
12	47982904	G	A	G47982904A	COL2A1	NM_001844.5(COL2A1):c.2137C>T:p.Gln713Ter	coding	Pathogenic
12	47982909	C	T	C47982909T	COL2A1	NM_001844.5(COL2A1):c.2132G>A:p.Gly711Asp	coding	Pathogenic
12	47982946	C	G	C47982946G	COL2A1	NM_001844.5(COL2A1):c.2095G>C:p.Gly699Arg	coding	Pathogenic
12	47983092	C	G	C47983092G	COL2A1	NM_001844.5(COL2A1):c.2094+1G>C	noncoding	Pathogenic
12	47983119	C	T	C47983119T	COL2A1	NM_001844.5(COL2A1):c.2068G>A:p.Gly690Arg	coding	Pathogenic
12	47983128	C	T	C47983128T	COL2A1	NM_001844.5(COL2A1):c.2059G>A:p.Gly687Ser	coding	Pathogenic/Likely_pathogenic
12	47983138	C	A	C47983138A	COL2A1	NM_001844.5(COL2A1):c.2050-1G>T	coding	Pathogenic
12	47983420	C	A	C47983420A	COL2A1	NM_001844.5(COL2A1):c.2014G>T:p.Gly672Cys	coding	Pathogenic
12	47983429	C	T	C47983429T	COL2A1	NM_001844.5(COL2A1):c.2005G>A:p.Gly669Ser	coding	Pathogenic/Likely_pathogenic
12	47983682	C	A	C47983682A	COL2A1	NM_001844.5(COL2A1):c.1995+1G>T	noncoding	Pathogenic
12	47983682	C	T	C47983682T	COL2A1	NM_001844.5(COL2A1):c.1995+1G>A	noncoding	Pathogenic
12	47983709	C	A	C47983709A	COL2A1	NM_001844.5(COL2A1):c.1969G>T:p.Gly657Cys	coding	Pathogenic
12	47983852	A	G	A47983852G	COL2A1	NM_001844.5(COL2A1):c.1942-116T>C	noncoding	Benign
12	47983935	T	C	T47983935C	COL2A1	NM_001844.5(COL2A1):c.1941+152A>G	noncoding	Benign
12	47983973	T	C	T47983973C	COL2A1	NM_001844.5(COL2A1):c.1941+114A>G	noncoding	Benign
12	47984073	G	A	G47984073A	COL2A1	NM_001844.5(COL2A1):c.1941+14C>T	noncoding	Benign/Likely_benign
12	47984094	C	T	C47984094T	COL2A1	NM_001844.5(COL2A1):c.1934G>A:p.Gly645Asp	coding	Pathogenic
12	47984545	C	T	C47984545T	COL2A1	NM_001844.5(COL2A1):c.1887+1G>A	noncoding	Pathogenic
12	47984571	C	T	C47984571T	COL2A1	NM_001844.5(COL2A1):c.1862G>A:p.Gly621Glu	coding	Pathogenic
12	47985047	C	T	C47985047T	COL2A1	NM_001844.5(COL2A1):c.1781G>A:p.Gly594Glu	coding	Pathogenic
12	47985048	C	T	C47985048T	COL2A1	NM_001844.5(COL2A1):c.1780G>A:p.Gly594Arg	coding	Pathogenic
12	47985093	C	T	C47985093T	COL2A1	NM_001844.5(COL2A1):c.1735G>A:p.Gly579Arg	coding	Pathogenic
12	47985136	C	T	C47985136T	COL2A1	NM_001844.5(COL2A1):c.1735-43G>A	noncoding	Benign
12	47985150	C	G	C47985150G	COL2A1	NM_001844.5(COL2A1):c.1735-57G>C	noncoding	Benign
12	47985798	C	T	C47985798T	COL2A1	NM_001844.5(COL2A1):c.1610G>A:p.Gly537Asp	coding	Pathogenic
12	47986362	C	T	C47986362T	COL2A1	NM_001844.5(COL2A1):c.1501G>A:p.Gly501Arg	coding	Pathogenic
12	47986371	C	G	C47986371G	COL2A1	NM_001844.5(COL2A1):c.1492G>C:p.Gly498Arg	coding	Pathogenic
12	47986428	G	A	G47986428A	COL2A1	NM_001844.5(COL2A1):c.1435C>T:p.Gln479Ter	coding	Pathogenic
12	47987086	C	T	C47987086T	COL2A1	NM_001844.5(COL2A1):c.1357G>A:p.Gly453Ser	coding	Pathogenic
12	47987090	C	T	C47987090T	COL2A1	NM_001844.5(COL2A1):c.1353G>A:p.Pro451=	coding	Benign
12	47987095	C	G	C47987095G	COL2A1	NM_001844.5(COL2A1):c.1348G>C:p.Gly450Arg	coding	Pathogenic
12	47987095	C	T	C47987095T	COL2A1	NM_001844.5(COL2A1):c.1348G>A:p.Gly450Ser	coding	Pathogenic
12	47987112	C	A	C47987112A	COL2A1	NM_001844.5(COL2A1):c.1331G>T:p.Gly444Val	coding	Pathogenic/Likely_pathogenic
12	47987276	C	T	C47987276T	COL2A1	NM_001844.5(COL2A1):c.1259G>A:p.Gly420Glu	coding	Pathogenic
12	47987285	C	A	C47987285A	COL2A1	NM_001844.5(COL2A1):c.1250G>T:p.Gly417Val	coding	Pathogenic
12	47987294	C	A	C47987294A	COL2A1	NM_001844.5(COL2A1):c.1241G>T:p.Gly414Val	coding	Pathogenic
12	47987315	T	C	T47987315C	COL2A1	NM_001844.5(COL2A1):c.1222-2A>G	noncoding	Pathogenic
12	47987610	C	T	C47987610T	COL2A1	NM_001844.5(COL2A1):c.1221+1G>A	noncoding	Pathogenic/Likely_pathogenic
12	47987618	C	T	C47987618T	COL2A1	NM_001844.5(COL2A1):c.1214G>A:p.Gly405Asp	coding	Pathogenic
12	47987637	C	T	C47987637T	COL2A1	NM_001844.5(COL2A1):c.1195G>A:p.Gly399Arg	coding	Pathogenic
12	47987690	C	T	C47987690T	COL2A1	NM_001844.5(COL2A1):c.1142G>A:p.Gly381Asp	coding	Pathogenic
12	47989281	C	T	C47989281T	COL2A1	NM_001844.5(COL2A1):c.1069G>A:p.Gly357Ser	coding	Pathogenic
12	47989452	A	G	A47989452G	COL2A1	NM_001844.5(COL2A1):c.1069-171T>C	noncoding	Benign
12	47989710	C	T	C47989710T	COL2A1	NM_001844.5(COL2A1):c.1068+51G>A	noncoding	Benign
12	47989760	C	G	C47989760G	COL2A1	NM_001844.5(COL2A1):c.1068+1G>C	noncoding	Pathogenic
12	47989807	T	C	T47989807C	COL2A1	NM_001844.5(COL2A1):c.1024-2A>G	noncoding	Pathogenic
12	47992876	A	T	A47992876T	COL2A1	NM_001844.5(COL2A1):c.1023+2T>A	noncoding	Pathogenic
12	47992921	C	A	C47992921A	COL2A1	NM_001844.5(COL2A1):c.980G>T:p.Gly327Val	coding	Pathogenic
12	47993136	A	G	A47993136G	COL2A1	NM_001844.5(COL2A1):c.970-205T>C	noncoding	Benign
12	47993274	G	C	G47993274C	COL2A1	NM_001844.5(COL2A1):c.969+184C>G	noncoding	Benign
12	47993816	C	T	C47993816T	COL2A1	NM_001844.5(COL2A1):c.917G>A:p.Gly306Asp	coding	Pathogenic
12	47993993	C	T	C47993993T	COL2A1	NM_001844.5(COL2A1):c.870+1G>A	noncoding	Pathogenic
12	47994029	C	A	C47994029A	COL2A1	NM_001844.5(COL2A1):c.835G>T:p.Gly279Ter	coding	Pathogenic
12	47994048	C	T	C47994048T	COL2A1	NM_001844.5(COL2A1):c.817-1G>A	coding	Pathogenic
12	47994319	G	A	G47994319A	COL2A1	NM_001844.5(COL2A1):c.816+105C>T	noncoding	Benign
12	47994459	C	A	C47994459A	COL2A1	NM_001844.5(COL2A1):c.781G>T:p.Gly261Ter	coding	Pathogenic
12	47995280	C	A	C47995280A	COL2A1	NM_001844.5(COL2A1):c.737G>T:p.Gly246Val	coding	Pathogenic
12	47995309	C	G	C47995309G	COL2A1	NM_001844.5(COL2A1):c.709-1G>C	coding	Pathogenic
12	47995309	C	T	C47995309T	COL2A1	NM_001844.5(COL2A1):c.709-1G>A	coding	Pathogenic
12	47995328	G	A	G47995328A	COL2A1	NM_001844.5(COL2A1):c.709-20C>T	noncoding	Benign
12	47995449	G	C	G47995449C	COL2A1	NM_001844.5(COL2A1):c.709-141C>G	noncoding	Benign
12	47995462	C	T	C47995462T	COL2A1	NM_001844.5(COL2A1):c.709-154G>A	noncoding	Benign
12	47995550	C	G	C47995550G	COL2A1	NM_001844.5(COL2A1):c.708+160G>C	noncoding	Benign
12	47995874	C	T	C47995874T	COL2A1	NM_001844.5(COL2A1):c.654+1G>A	noncoding	Pathogenic
12	47995882	C	T	C47995882T	COL2A1	NM_001844.5(COL2A1):c.647G>A:p.Gly216Asp	coding	Pathogenic/Likely_pathogenic
12	47995909	C	A	C47995909A	COL2A1	NM_001844.5(COL2A1):c.620G>T:p.Gly207Val	coding	Pathogenic
12	47996802	T	A	T47996802A	COL2A1	NM_001844.5(COL2A1):c.532-177A>T	noncoding	Benign
12	47997609	A	T	A47997609T	COL2A1	NM_001844.5(COL2A1):c.528T>A:p.Gly176=	coding	Benign/Likely_benign
12	47997677	C	A	C47997677A	COL2A1	NM_001844.5(COL2A1):c.460G>T:p.Glu154Ter	coding	Pathogenic
12	47997986	C	T	C47997986T	COL2A1	NM_001844.5(COL2A1):c.375+46G>A	noncoding	Benign
12	47998168	C	T	C47998168T	COL2A1	NM_001844.5(COL2A1):c.342+1G>A	noncoding	Pathogenic
12	47999944	G	T	G47999944T	COL2A1	NM_001844.5(COL2A1):c.267C>A:p.Cys89Ter	coding	Pathogenic
12	48000055	G	T	G48000055T	COL2A1	NM_001844.5(COL2A1):c.156C>A:p.Cys52Ter	coding	Pathogenic/Likely_pathogenic
12	48000064	C	T	C48000064T	COL2A1	NM_001844.5(COL2A1):c.147G>A:p.Pro49=	coding	Benign/Likely_benign
12	48000175	G	A	G48000175A	COL2A1	NM_001844.5(COL2A1):c.86-50C>T	noncoding	Benign
12	48004321	T	C	T48004321C	COL2A1	NM_001844.5(COL2A1):c.1A>G:p.Met1Val	coding	Pathogenic
12	48106148	A	T	A48106148T	PFKM	NM_001267594.1(SENP1):c.-165T>A	noncoding	Benign
12	48107081	C	G	C48107081G	PFKM	NM_001166686.2(PFKM):c.-9-284C>G	noncoding	Benign
12	48107378	A	T	A48107378T	PFKM	NM_001166686.2(PFKM):c.5A>T:p.His2Leu	coding	Benign
12	48107628	A	G	A48107628G	PFKM	NM_001166686.2(PFKM):c.82+173A>G	noncoding	Benign
12	48108317	A	G	A48108317G	PFKM	NM_001166686.2(PFKM):c.205+123A>G	noncoding	Benign
12	48118502	C	A	C48118502A	PFKM	NM_001354735.1(PFKM):c.226C>A:p.Gln76Lys	noncoding	Benign
12	48119244	C	A	C48119244A	PFKM	NM_000289.5(PFKM):c.-171C>A	coding	Benign/Likely_benign
12	48119492	A	G	A48119492G	PFKM	NM_000289.6(PFKM):c.-9+86A>G	noncoding	Benign
12	48130309	G	T	G48130309T	PFKM	NM_000289.6(PFKM):c.86-54G>T	noncoding	Benign
12	48130392	C	T	C48130392T	PFKM	NM_000289.6(PFKM):c.115C>T:p.Arg39Ter	coding	Pathogenic/Likely_pathogenic
12	48130525	C	A	C48130525A	PFKM	NM_000289.6(PFKM):c.159+89C>A	noncoding	Benign
12	48131011	T	G	T48131011G	PFKM	NM_000289.6(PFKM):c.160-305T>G	noncoding	Benign
12	48131087	A	G	A48131087G	PFKM	NM_000289.6(PFKM):c.160-229A>G	noncoding	Benign
12	48131321	T	A	T48131321A	PFKM	NM_000289.6(PFKM):c.165T>A:p.Tyr55Ter	coding	Pathogenic
12	48132928	C	T	C48132928T	PFKM	NM_000289.6(PFKM):c.298C>T:p.Arg100Ter	coding	Pathogenic
12	48133247	T	C	T48133247C	PFKM	NM_000289.6(PFKM):c.428-68T>C	noncoding	Benign
12	48134191	A	G	A48134191G	PFKM	NM_000289.6(PFKM):c.594-41A>G	noncoding	Benign/Likely_benign
12	48134576	C	T	C48134576T	PFKM	NM_000289.6(PFKM):c.639-145C>T	noncoding	Benign
12	48134818	C	T	C48134818T	PFKM	NM_000289.6(PFKM):c.736C>T:p.Arg246Ter	coding	Pathogenic
12	48135274	T	A	T48135274A	PFKM	NM_000289.6(PFKM):c.844-17T>A	noncoding	Benign/Likely_benign
12	48137788	T	C	T48137788C	PFKM	NM_000289.6(PFKM):c.1004T>C:p.Val335Ala	coding	Benign
12	48139566	G	A	G48139566A	PFKM	NM_000289.6(PFKM):c.1127+217G>A	noncoding	Benign
12	48140824	C	T	C48140824T	PFKM	NM_000289.6(PFKM):c.1294C>T:p.Arg432Ter	coding	Pathogenic
12	48141676	A	G	A48141676G	PFKM	NM_000289.6(PFKM):c.1413-64A>G	noncoding	Pathogenic
12	48141682	C	A	C48141682A	PFKM	NM_000289.6(PFKM):c.1413-58C>A	noncoding	Benign/Likely_benign
12	48142176	T	G	T48142176G	PFKM	NM_000289.6(PFKM):c.1653+110T>G	noncoding	Benign
12	48142623	A	G	A48142623G	PFKM	NM_000289.6(PFKM):c.1654-159A>G	noncoding	Benign
12	48145125	G	A	G48145125A	PFKM	NM_000289.6(PFKM):c.2087G>A:p.Arg696His	coding	Benign/Likely_benign
12	48145552	A	G	A48145552G	PFKM	NM_000289.6(PFKM):c.2199-12A>G	noncoding	Benign/Likely_benign
12	48768815	G	A	G48768815A	ADCY6	NM_015270.5(ADCY6):c.3382-99C>T	noncoding	Benign
12	48770699	G	A	G48770699A	ADCY6	NM_015270.5(ADCY6):c.3256+67C>T	noncoding	Benign
12	48771042	T	C	T48771042C	ADCY6	NM_015270.5(ADCY6):c.3052-72A>G	noncoding	Benign
12	48771622	C	T	C48771622T	ADCY6	NM_015270.5(ADCY6):c.3051+88G>A	noncoding	Benign
12	48771754	C	T	C48771754T	ADCY6	NM_015270.5(ADCY6):c.3007G>A:p.Glu1003Lys	coding	Pathogenic
12	48772698	G	T	G48772698T	ADCY6	NM_015270.5(ADCY6):c.2622-155C>A	noncoding	Benign
12	48773360	T	A	T48773360A	ADCY6	NM_015270.5(ADCY6):c.2621+109A>T	noncoding	Benign
12	48773419	A	C	A48773419C	ADCY6	NM_015270.5(ADCY6):c.2621+50T>G	noncoding	Benign
12	48773900	C	A	C48773900A	ADCY6	NM_015270.5(ADCY6):c.2442+40G>T	noncoding	Benign
12	48774345	G	C	G48774345C	ADCY6	NM_015270.5(ADCY6):c.2283+57C>G	noncoding	Benign
12	48775065	G	C	G48775065C	ADCY6	NM_015270.5(ADCY6):c.1981-11C>G	noncoding	Benign
12	48775479	T	A	T48775479A	ADCY6	NM_015270.5(ADCY6):c.1833-29A>T	noncoding	Benign
12	48776427	C	T	C48776427T	ADCY6	NM_015270.5(ADCY6):c.1535+1G>A	noncoding	Pathogenic
12	48776526	G	A	G48776526A	ADCY6	NM_015270.5(ADCY6):c.1437C>T:p.Arg479_Val480=	coding	Benign
12	48776642	C	T	C48776642T	ADCY6	NM_015270.5(ADCY6):c.1377-56G>A	noncoding	Benign
12	48778007	T	C	T48778007C	ADCY6	NM_015270.5(ADCY6):c.1014+101A>G	noncoding	Benign
12	48778536	C	T	C48778536T	ADCY6	NM_015270.5(ADCY6):c.865-279G>A	noncoding	Benign
12	48782799	G	A	G48782799A	ADCY6	NM_015270.5(ADCY6):c.636C>T:p.Ser212_Tyr213=	coding	Benign
12	48783089	G	T	G48783089T	ADCY6	NM_015270.5(ADCY6):c.346C>A:p.Arg116_Ser117=	coding	Benign
12	48783330	T	G	T48783330G	ADCY6	NM_015270.5(ADCY6):c.105A>C:p.Ala35_Gly36=	coding	Benign
12	48904002	A	G	A48904002G	CCDC65	Single_allele	noncoding	Benign
12	48904035	C	T	C48904035T	CCDC65	Single_allele	noncoding	Benign
12	48904081	C	T	C48904081T	CCDC65	Single_allele	noncoding	Benign
12	48904276	G	A	G48904276A	CCDC65	NM_033124.5(CCDC65):c.-61G>A	noncoding	Benign
12	48904479	T	C	T48904479C	CCDC65	NM_033124.5(CCDC65):c.132+11T>C	noncoding	Benign
12	48904557	C	T	C48904557T	CCDC65	NM_033124.5(CCDC65):c.132+89C>T	noncoding	Benign
12	48904654	G	T	G48904654T	CCDC65	NM_033124.5(CCDC65):c.132+186G>T	noncoding	Benign
12	48904720	T	C	T48904720C	CCDC65	NM_033124.5(CCDC65):c.133-226T>C	noncoding	Benign
12	48905412	T	C	T48905412C	CCDC65	NM_033124.5(CCDC65):c.300+299T>C	noncoding	Benign
12	48914390	T	C	T48914390C	CCDC65	NM_033124.5(CCDC65):c.301-14T>C	noncoding	Benign
12	48914692	G	A	G48914692A	CCDC65	NM_033124.5(CCDC65):c.470+119G>A	noncoding	Benign
12	48916941	G	A	G48916941A	CCDC65	NM_033124.5(CCDC65):c.471-29G>A	noncoding	Benign
12	48916942	A	G	A48916942G	CCDC65	NM_033124.5(CCDC65):c.471-28A>G	noncoding	Benign
12	48917122	G	A	G48917122A	CCDC65	NM_033124.5(CCDC65):c.609+14G>A	noncoding	Benign
12	48917283	A	G	A48917283G	CCDC65	NM_033124.5(CCDC65):c.609+175A>G	noncoding	Benign
12	48917347	C	T	C48917347T	CCDC65	NM_033124.5(CCDC65):c.609+239C>T	noncoding	Benign
12	48917379	G	A	G48917379A	CCDC65	NM_033124.5(CCDC65):c.609+271G>A	noncoding	Benign
12	48917424	A	G	A48917424G	CCDC65	NM_033124.5(CCDC65):c.609+316A>G	noncoding	Benign
12	48918412	G	A	G48918412A	CCDC65	NM_033124.5(CCDC65):c.747G>A:p.Val249=	coding	Benign
12	48918649	C	T	C48918649T	CCDC65	NM_033124.5(CCDC65):c.808-36C>T	noncoding	Benign
12	48920919	G	A	G48920919A	CCDC65	NM_033124.5(CCDC65):c.1027-11G>A	noncoding	Benign
12	48921097	A	T	A48921097T	CCDC65	NM_033124.5(CCDC65):c.1179+15A>T	noncoding	Benign
12	48921134	G	C	G48921134C	CCDC65	NM_033124.5(CCDC65):c.1180-34G>C	noncoding	Benign
12	48939660	T	C	T48939660C	ARF3	NM_001659.3(ARF3):c.379A>G:p.Lys127Glu	coding	Pathogenic
12	48939762	C	T	C48939762T	ARF3	NM_001659.3(ARF3):c.277G>A:p.Asp93Asn	coding	Pathogenic
12	48940016	G	A	G48940016A	ARF3	NM_001659.3(ARF3):c.240C>T:p.His80=	coding	Benign
12	48940056	T	A	T48940056A	ARF3	NM_001659.3(ARF3):c.200A>T:p.Asp67Val	coding	Pathogenic
12	48940957	G	A	G48940957A	ARF3	NM_001659.3(ARF3):c.139C>T:p.Pro47Ser	coding	Pathogenic
12	48941001	G	T	G48941001T	ARF3	NM_001659.3(ARF3):c.95C>A:p.Thr32Asn	coding	Pathogenic
12	48965910	T	C	T48965910C	WNT10B	NM_003394.4(WNT10B):c.*185A>G	noncoding	Benign
12	48966206	G	A	G48966206A	WNT10B	NM_003394.4(WNT10B):c.1059C>T:p.His353=	coding	Benign
12	48968320	C	G	C48968320G	WNT10B	NM_003394.4(WNT10B):c.338-1G>C	coding	Pathogenic/Likely_pathogenic
12	48970608	G	A	G48970608A	WNT10B	NM_003394.4(WNT10B):c.-40-39C>T	noncoding	Benign
12	48979627	T	A	T48979627A	WNT1	NM_005430.4(WNT1):c.264T>A:p.Ser88Arg	coding	Benign/Likely_benign
12	48980479	G	T	G48980479T	WNT1	NM_005430.4(WNT1):c.414G>T:p.Ser138=	coding	Benign
12	48980530	C	A	C48980530A	WNT1	NM_005430.4(WNT1):c.465C>A:p.Tyr155Ter	coding	Pathogenic
12	48981208	C	A	C48981208A	WNT1	NM_005430.4(WNT1):c.681C>A:p.Cys227Ter	coding	Pathogenic
12	48981434	G	T	G48981434T	WNT1	NM_005430.4(WNT1):c.907G>T:p.Gly303Ter	coding	Pathogenic
12	48996894	T	C	T48996894C	DDN	NM_015086.2(DDN):c.1982A>G:p.Glu661Gly	coding	Benign
12	49022122	C	T	C49022122T	KMT2D	NM_003482.4(KMT2D):c.16442G>A:p.Cys5481Tyr	coding	Pathogenic/Likely_pathogenic
12	49022248	C	T	C49022248T	KMT2D	NM_003482.4(KMT2D):c.16412+32G>A	noncoding	Benign
12	49022655	C	T	C49022655T	KMT2D	NM_003482.4(KMT2D):c.16273G>A:p.Glu5425Lys	coding	Pathogenic
12	49022813	G	C	G49022813C	KMT2D	NM_003482.4(KMT2D):c.16115C>G:p.Thr5372Ser	coding	Benign/Likely_benign
12	49023161	T	C	T49023161C	KMT2D	NM_003482.4(KMT2D):c.16053-286A>G	noncoding	Benign
12	49024611	C	T	C49024611T	KMT2D	NM_003482.4(KMT2D):c.16019G>A:p.Arg5340Gln	coding	Pathogenic/Likely_pathogenic
12	49024617	C	T	C49024617T	KMT2D	NM_003482.4(KMT2D):c.16013G>A:p.Cys5338Tyr	coding	Pathogenic
12	49024853	A	G	A49024853G	KMT2D	NM_003482.4(KMT2D):c.15878T>C:p.Leu5293Pro	coding	Pathogenic
12	49024947	C	G	C49024947G	KMT2D	NM_003482.4(KMT2D):c.15785-1G>C	coding	Pathogenic
12	49025894	G	C	G49025894C	KMT2D	NM_003482.4(KMT2D):c.15784+288C>G	noncoding	Benign
12	49026087	T	C	T49026087C	KMT2D	NM_003482.4(KMT2D):c.15784+95A>G	noncoding	Benign
12	49026277	C	T	C49026277T	KMT2D	NM_003482.4(KMT2D):c.15689G>A:p.Cys5230Tyr	coding	Pathogenic
12	49026862	C	T	C49026862T	KMT2D	NM_003482.4(KMT2D):c.15104G>A:p.Cys5035Tyr	coding	Pathogenic
12	49026876	A	C	A49026876C	KMT2D	NM_003482.4(KMT2D):c.15090T>G:p.Arg5030=	coding	Benign/Likely_benign
12	49026947	G	A	G49026947A	KMT2D	NM_003482.4(KMT2D):c.15019C>T:p.Arg5007Trp	coding	Benign/Likely_benign
12	49026977	G	A	G49026977A	KMT2D	NM_003482.4(KMT2D):c.14989C>T:p.Gln4997Ter	coding	Pathogenic
12	49027187	T	G	T49027187G	KMT2D	NM_003482.4(KMT2D):c.14779A>C:p.Ser4927Arg	coding	Benign
12	49027200	T	G	T49027200G	KMT2D	NM_003482.4(KMT2D):c.14766A>C:p.Ala4922=	coding	Benign
12	49027205	A	G	A49027205G	KMT2D	NM_003482.4(KMT2D):c.14761T>C:p.Leu4921=	coding	Benign
12	49027219	G	A	G49027219A	KMT2D	NM_003482.4(KMT2D):c.14747C>T:p.Pro4916Leu	coding	Benign
12	49027333	G	A	G49027333A	KMT2D	NM_003482.4(KMT2D):c.14644-11C>T	noncoding	Benign
12	49027396	G	C	G49027396C	KMT2D	NM_003482.4(KMT2D):c.14644-74C>G	noncoding	Benign
12	49027989	G	A	G49027989A	KMT2D	NM_003482.4(KMT2D):c.14515+20C>T	noncoding	Benign
12	49028311	A	G	A49028311G	KMT2D	NM_003482.4(KMT2D):c.14383-170T>C	noncoding	Benign
12	49028808	G	A	G49028808A	KMT2D	NM_003482.4(KMT2D):c.14382+20C>T	noncoding	Benign
12	49029012	G	A	G49029012A	KMT2D	NM_003482.4(KMT2D):c.14251+49C>T	noncoding	Benign
12	49029205	C	A	C49029205A	KMT2D	NM_003482.4(KMT2D):c.14107G>T:p.Asp4703Tyr	coding	Benign
12	49029390	C	G	C49029390G	KMT2D	NM_003482.4(KMT2D):c.14075+11G>C	noncoding	Benign
12	49030448	T	G	T49030448G	KMT2D	NM_003482.4(KMT2D):c.13840-9A>C	noncoding	Benign
12	49030463	T	G	T49030463G	KMT2D	NM_003482.4(KMT2D):c.13840-24A>C	noncoding	Benign
12	49030642	G	A	G49030642A	KMT2D	NM_003482.4(KMT2D):c.13798C>T:p.Leu4600=	coding	Benign
12	49030833	G	A	G49030833A	KMT2D	NM_003482.4(KMT2D):c.13671+60C>T	noncoding	Benign
12	49030977	G	A	G49030977A	KMT2D	NM_003482.4(KMT2D):c.13587C>T:p.Ser4529=	coding	Benign
12	49031082	C	T	C49031082T	KMT2D	NM_003482.4(KMT2D):c.13531-49G>A	noncoding	Benign
12	49031393	C	T	C49031393T	KMT2D	NM_003482.4(KMT2D):c.13312G>A:p.Glu4438Lys	coding	Benign
12	49031533	T	C	T49031533C	KMT2D	NM_003482.4(KMT2D):c.13172A>G:p.Gln4391Arg	coding	Benign
12	49031602	G	T	G49031602T	KMT2D	NM_003482.4(KMT2D):c.13103C>A:p.Thr4368Asn	coding	Benign/Likely_benign
12	49031704	G	A	G49031704A	KMT2D	NM_003482.4(KMT2D):c.13001C>T:p.Ala4334Val	coding	Benign/Likely_benign
12	49031706	C	A	C49031706A	KMT2D	NM_003482.4(KMT2D):c.12999G>T:p.Glu4333Asp	coding	Benign/Likely_benign
12	49031741	G	A	G49031741A	KMT2D	NM_003482.4(KMT2D):c.12964C>T:p.Gln4322Ter	coding	Pathogenic
12	49031761	T	C	T49031761C	KMT2D	NM_003482.4(KMT2D):c.12944A>G:p.Gln4315Arg	coding	Benign/Likely_benign
12	49031843	G	A	G49031843A	KMT2D	NM_003482.4(KMT2D):c.12862C>T:p.Arg4288Trp	coding	Benign
12	49032109	G	A	G49032109A	KMT2D	NM_003482.4(KMT2D):c.12596C>T:p.Ala4199Val	coding	Benign
12	49032235	T	G	T49032235G	KMT2D	NM_003482.4(KMT2D):c.12470A>C:p.Gln4157Pro	coding	Benign
12	49032236	G	A	G49032236A	KMT2D	NM_003482.4(KMT2D):c.12469C>T:p.Gln4157Ter	coding	Pathogenic/Likely_pathogenic
12	49032640	G	A	G49032640A	KMT2D	NM_003482.4(KMT2D):c.12065C>T:p.Thr4022Met	coding	Benign
12	49032815	G	A	G49032815A	KMT2D	NM_003482.4(KMT2D):c.11890C>T:p.Gln3964Ter	coding	Pathogenic
12	49032879	T	C	T49032879C	KMT2D	NM_003482.4(KMT2D):c.11826A>G:p.Gln3942=	coding	Benign/Likely_benign
12	49032965	G	A	G49032965A	KMT2D	NM_003482.4(KMT2D):c.11740C>T:p.Gln3914Ter	coding	Pathogenic
12	49032974	G	A	G49032974A	KMT2D	NM_003482.4(KMT2D):c.11731C>T:p.Gln3911Ter	coding	Pathogenic
12	49033122	T	C	T49033122C	KMT2D	NM_003482.4(KMT2D):c.11583A>G:p.Gln3861=	coding	Benign
12	49033127	G	A	G49033127A	KMT2D	NM_003482.4(KMT2D):c.11578C>T:p.Gln3860Ter	coding	Pathogenic
12	49033244	G	A	G49033244A	KMT2D	NM_003482.4(KMT2D):c.11461C>T:p.Gln3821Ter	coding	Pathogenic
12	49033255	G	T	G49033255T	KMT2D	NM_003482.4(KMT2D):c.11450C>A:p.Ala3817Asp	coding	Benign
12	49033310	G	A	G49033310A	KMT2D	NM_003482.4(KMT2D):c.11395C>T:p.Gln3799Ter	coding	Pathogenic/Likely_pathogenic
12	49033385	G	A	G49033385A	KMT2D	NM_003482.4(KMT2D):c.11320C>T:p.Gln3774Ter	coding	Pathogenic
12	49033406	G	C	G49033406C	KMT2D	NM_003482.4(KMT2D):c.11299C>G:p.Gln3767Glu	coding	Benign
12	49033544	G	C	G49033544C	KMT2D	NM_003482.4(KMT2D):c.11161C>G:p.Leu3721Val	coding	Benign
12	49033658	G	A	G49033658A	KMT2D	NM_003482.4(KMT2D):c.11047C>T:p.Gln3683Ter	coding	Pathogenic
12	49033684	T	C	T49033684C	KMT2D	NM_003482.4(KMT2D):c.11021A>G:p.Asn3674Ser	coding	Benign
12	49033796	G	T	G49033796T	KMT2D	NM_003482.4(KMT2D):c.10909C>A:p.Pro3637Thr	coding	Benign
12	49033896	C	T	C49033896T	KMT2D	NM_003482.4(KMT2D):c.10809G>A:p.Gln3603=	coding	Benign
12	49033981	G	A	G49033981A	KMT2D	NM_003482.4(KMT2D):c.10741-17C>T	noncoding	Benign
12	49034006	C	T	C49034006T	KMT2D	NM_003482.4(KMT2D):c.10741-42G>A	noncoding	Benign
12	49034066	C	T	C49034066T	KMT2D	NM_003482.4(KMT2D):c.10740+1G>A	noncoding	Pathogenic
12	49034255	G	A	G49034255A	KMT2D	NM_003482.4(KMT2D):c.10552C>T:p.Gln3518Ter	coding	Pathogenic
12	49034269	C	T	C49034269T	KMT2D	NM_003482.4(KMT2D):c.10538G>A:p.Trp3513Ter	coding	Pathogenic
12	49034448	G	A	G49034448A	KMT2D	NM_003482.4(KMT2D):c.10469C>T:p.Pro3490Leu	coding	Benign/Likely_benign
12	49034589	C	T	C49034589T	KMT2D	NM_003482.4(KMT2D):c.10433G>A:p.Ser3478Asn	coding	Benign
12	49034630	C	T	C49034630T	KMT2D	NM_003482.4(KMT2D):c.10392G>A:p.Gly3464=	coding	Benign
12	49034631	C	T	C49034631T	KMT2D	NM_003482.4(KMT2D):c.10391G>A:p.Gly3464Glu	coding	Benign
12	49034691	A	G	A49034691G	KMT2D	NM_003482.4(KMT2D):c.10356-25T>C	noncoding	Benign
12	49034926	T	C	T49034926C	KMT2D	NM_003482.4(KMT2D):c.10241A>G:p.Lys3414Arg	coding	Benign
12	49037150	C	G	C49037150G	KMT2D	NM_003482.4(KMT2D):c.10206G>C:p.Leu3402=	coding	Benign/Likely_benign
12	49037338	G	A	G49037338A	KMT2D	NM_003482.4(KMT2D):c.10018C>T:p.Gln3340Ter	coding	Pathogenic
12	49037521	G	A	G49037521A	KMT2D	NM_003482.4(KMT2D):c.9835C>T:p.Gln3279Ter	coding	Pathogenic
12	49037566	G	A	G49037566A	KMT2D	NM_003482.4(KMT2D):c.9790C>T:p.Gln3264Ter	coding	Pathogenic
12	49037760	C	T	C49037760T	KMT2D	NM_003482.4(KMT2D):c.9596G>A:p.Ser3199Asn	coding	Benign
12	49037809	C	G	C49037809G	KMT2D	NM_003482.4(KMT2D):c.9547G>C:p.Ala3183Pro	coding	Benign/Likely_benign
12	49037957	T	C	T49037957C	KMT2D	NM_003482.4(KMT2D):c.9399A>G:p.Gln3133=	coding	Benign
12	49038060	C	T	C49038060T	KMT2D	NM_003482.4(KMT2D):c.9296G>A:p.Arg3099His	coding	Benign/Likely_benign
12	49038383	G	A	G49038383A	KMT2D	NM_003482.4(KMT2D):c.8973C>T:p.Pro2991=	coding	Benign/Likely_benign
12	49038449	C	T	C49038449T	KMT2D	NM_003482.4(KMT2D):c.8907G>A:p.Ser2969=	coding	Benign
12	49038543	G	A	G49038543A	KMT2D	NM_003482.4(KMT2D):c.8813C>T:p.Pro2938Leu	coding	Benign
12	49038809	G	A	G49038809A	KMT2D	NM_003482.4(KMT2D):c.8547C>T:p.Ala2849=	coding	Benign/Likely_benign
12	49039585	C	T	C49039585T	KMT2D	NM_003482.4(KMT2D):c.8079G>A:p.Gln2693=	coding	Benign
12	49039652	T	C	T49039652C	KMT2D	NM_003482.4(KMT2D):c.8047-35A>G	noncoding	Benign
12	49039816	T	G	T49039816G	KMT2D	NM_003482.4(KMT2D):c.7954A>C:p.Met2652Leu	coding	Benign/Likely_benign
12	49040099	C	T	C49040099T	KMT2D	NM_003482.4(KMT2D):c.7671G>A:p.Pro2557=	coding	Benign
12	49040163	A	G	A49040163G	KMT2D	NM_003482.4(KMT2D):c.7607T>C:p.Phe2536Ser	coding	Benign
12	49040212	G	A	G49040212A	KMT2D	NM_003482.4(KMT2D):c.7558C>T:p.Arg2520Trp	coding	Benign
12	49040225	G	A	G49040225A	KMT2D	NM_003482.4(KMT2D):c.7545C>T:p.Pro2515=	coding	Benign
12	49040273	G	A	G49040273A	KMT2D	NM_003482.4(KMT2D):c.7497C>T:p.Pro2499=	coding	Benign
12	49040292	C	T	C49040292T	KMT2D	NM_003482.4(KMT2D):c.7478G>A:p.Gly2493Glu	coding	Benign/Likely_benign
12	49040392	G	A	G49040392A	KMT2D	NM_003482.4(KMT2D):c.7378C>T:p.Arg2460Cys	coding	Benign
12	49040403	C	T	C49040403T	KMT2D	NM_003482.4(KMT2D):c.7367G>A:p.Arg2456His	coding	Benign/Likely_benign
12	49040710	G	A	G49040710A	KMT2D	NM_003482.4(KMT2D):c.7060C>T:p.Pro2354Ser	coding	Benign/Likely_benign
12	49040979	C	G	C49040979G	KMT2D	NM_003482.4(KMT2D):c.6791G>C:p.Gly2264Ala	coding	Benign
12	49041127	A	T	A49041127T	KMT2D	NM_003482.4(KMT2D):c.6643T>A:p.Ser2215Thr	coding	Benign/Likely_benign
12	49041191	C	T	C49041191T	KMT2D	NM_003482.4(KMT2D):c.6579G>A:p.Pro2193=	coding	Benign
12	49041197	C	T	C49041197T	KMT2D	NM_003482.4(KMT2D):c.6573G>A:p.Thr2191=	coding	Benign
12	49041744	G	T	G49041744T	KMT2D	NM_003482.4(KMT2D):c.6184-39C>A	noncoding	Benign
12	49041920	G	T	G49041920T	KMT2D	NM_003482.4(KMT2D):c.6180C>A:p.Tyr2060Ter	coding	Pathogenic
12	49041992	T	C	T49041992C	KMT2D	NM_003482.4(KMT2D):c.6110-2A>G	noncoding	Pathogenic
12	49042031	C	T	C49042031T	KMT2D	NM_003482.4(KMT2D):c.6110-41G>A	noncoding	Benign
12	49042041	A	G	A49042041G	KMT2D	NM_003482.4(KMT2D):c.6109+48T>C	noncoding	Benign
12	49042088	C	G	C49042088G	KMT2D	NM_003482.4(KMT2D):c.6109+1G>C	noncoding	Pathogenic
12	49042140	G	A	G49042140A	KMT2D	NM_003482.4(KMT2D):c.6058C>T:p.Pro2020Ser	coding	Benign
12	49042231	C	T	C49042231T	KMT2D	NM_003482.4(KMT2D):c.5967G>A:p.Thr1989=	coding	Benign
12	49042285	G	A	G49042285A	KMT2D	NM_003482.4(KMT2D):c.5913C>T:p.Ser1971=	coding	Benign
12	49042607	T	C	T49042607C	KMT2D	NM_003482.4(KMT2D):c.5821A>G:p.Met1941Val	coding	Benign/Likely_benign
12	49042810	G	A	G49042810A	KMT2D	NM_003482.4(KMT2D):c.5713C>T:p.Gln1905Ter	coding	Pathogenic
12	49042907	G	C	G49042907C	KMT2D	NM_003482.4(KMT2D):c.5645-29C>G	noncoding	Benign
12	49042941	A	G	A49042941G	KMT2D	NM_003482.4(KMT2D):c.5645-63T>C	noncoding	Benign
12	49043334	C	T	C49043334T	KMT2D	NM_003482.4(KMT2D):c.5533+29G>A	noncoding	Benign
12	49043373	G	A	G49043373A	KMT2D	NM_003482.4(KMT2D):c.5523C>T:p.Ala1841=	coding	Benign
12	49043429	C	T	C49043429T	KMT2D	NM_003482.4(KMT2D):c.5468-1G>A	coding	Pathogenic
12	49043943	C	T	C49043943T	KMT2D	NM_003482.4(KMT2D):c.5244G>A:p.Gly1748=	coding	Benign
12	49044203	C	A	C49044203A	KMT2D	NM_003482.4(KMT2D):c.5185G>T:p.Glu1729Ter	coding	Pathogenic
12	49044245	C	T	C49044245T	KMT2D	NM_003482.4(KMT2D):c.5143G>A:p.Ala1715Thr	coding	Benign
12	49044564	T	C	T49044564C	KMT2D	NM_003482.4(KMT2D):c.4964-42A>G	noncoding	Benign
12	49044772	C	T	C49044772T	KMT2D	NM_003482.4(KMT2D):c.4935G>A:p.Leu1645=	coding	Benign/Likely_benign
12	49044864	G	A	G49044864A	KMT2D	NM_003482.4(KMT2D):c.4843C>T:p.Arg1615Ter	coding	Pathogenic
12	49045008	C	T	C49045008T	KMT2D	NM_003482.4(KMT2D):c.4742-43G>A	noncoding	Benign
12	49045280	G	A	G49045280A	KMT2D	NM_003482.4(KMT2D):c.4742-315C>T	noncoding	Benign
12	49045738	A	G	A49045738G	KMT2D	NM_003482.4(KMT2D):c.4741+182T>C	noncoding	Benign
12	49045876	C	T	C49045876T	KMT2D	NM_003482.4(KMT2D):c.4741+44G>A	noncoding	Benign
12	49046318	T	C	T49046318C	KMT2D	NM_003482.4(KMT2D):c.4525A>G:p.Ile1509Val	coding	Benign/Likely_benign
12	49046343	G	A	G49046343A	KMT2D	NM_003482.4(KMT2D):c.4500C>T:p.Pro1500=	coding	Benign
12	49046416	G	C	G49046416C	KMT2D	NM_003482.4(KMT2D):c.4427C>G:p.Ser1476Cys	coding	Pathogenic
12	49046422	C	A	C49046422A	KMT2D	NM_003482.4(KMT2D):c.4421G>T:p.Cys1474Phe	coding	Pathogenic
12	49046466	C	T	C49046466T	KMT2D	NM_003482.4(KMT2D):c.4419-42G>A	noncoding	Benign
12	49046472	T	C	T49046472C	KMT2D	NM_003482.4(KMT2D):c.4419-48A>G	noncoding	Benign
12	49046828	G	A	G49046828A	KMT2D	NM_003482.4(KMT2D):c.4237-38C>T	noncoding	Benign
12	49047944	C	A	C49047944A	KMT2D	NM_003482.4(KMT2D):c.4236+21G>T	noncoding	Benign
12	49048396	G	A	G49048396A	KMT2D	NM_003482.4(KMT2D):c.4131+263C>T	noncoding	Benign
12	49048528	C	A	C49048528A	KMT2D	NM_003482.4(KMT2D):c.4131+131G>T	noncoding	Benign
12	49048624	C	T	C49048624T	KMT2D	NM_003482.4(KMT2D):c.4131+35G>A	noncoding	Benign
12	49048707	C	A	C49048707A	KMT2D	NM_003482.4(KMT2D):c.4083G>T:p.Gln1361His	coding	Benign
12	49049030	T	C	T49049030C	KMT2D	NM_003482.4(KMT2D):c.4020+75A>G	noncoding	Benign
12	49049089	G	A	G49049089A	KMT2D	NM_003482.4(KMT2D):c.4020+16C>T	noncoding	Benign
12	49049229	G	C	G49049229C	KMT2D	NM_003482.4(KMT2D):c.3907-11C>G	noncoding	Benign
12	49049698	C	T	C49049698T	KMT2D	NM_003482.4(KMT2D):c.3890G>A:p.Arg1297His	coding	Benign
12	49049798	G	A	G49049798A	KMT2D	NM_003482.4(KMT2D):c.3790C>T:p.Leu1264=	coding	Benign
12	49050022	C	T	C49050022T	KMT2D	NM_003482.4(KMT2D):c.3566G>A:p.Arg1189His	coding	Benign
12	49050407	C	A	C49050407A	KMT2D	NM_003482.4(KMT2D):c.3181G>T:p.Val1061Leu	coding	Benign
12	49050408	C	A	C49050408A	KMT2D	NM_003482.4(KMT2D):c.3180G>T:p.Lys1060Asn	coding	Benign
12	49050543	G	A	G49050543A	KMT2D	NM_003482.4(KMT2D):c.3045C>T:p.Ile1015=	coding	Benign/Likely_benign
12	49050901	G	A	G49050901A	KMT2D	NM_003482.4(KMT2D):c.2782C>T:p.Gln928Ter	coding	Pathogenic
12	49051098	G	T	G49051098T	KMT2D	NM_003482.4(KMT2D):c.2585C>A:p.Pro862His	coding	Benign
12	49051137	G	A	G49051137A	KMT2D	NM_003482.4(KMT2D):c.2546C>T:p.Ser849Leu	coding	Benign/Likely_benign
12	49051177	G	T	G49051177T	KMT2D	NM_003482.4(KMT2D):c.2506C>A:p.Gln836Lys	coding	Benign/Likely_benign
12	49051195	C	A	C49051195A	KMT2D	NM_003482.4(KMT2D):c.2488G>T:p.Glu830Ter	coding	Pathogenic
12	49051206	G	T	G49051206T	KMT2D	NM_003482.4(KMT2D):c.2477C>A:p.Pro826His	coding	Benign/Likely_benign
12	49051263	G	T	G49051263T	KMT2D	NM_003482.4(KMT2D):c.2420C>A:p.Ser807Tyr	coding	Benign
12	49051414	C	G	C49051414G	KMT2D	NM_003482.4(KMT2D):c.2269G>C:p.Glu757Gln	coding	Benign
12	49051463	C	A	C49051463A	KMT2D	NM_003482.4(KMT2D):c.2220G>T:p.Gly740=	coding	Benign/Likely_benign
12	49051477	G	A	G49051477A	KMT2D	NM_003482.4(KMT2D):c.2206C>T:p.Pro736Ser	coding	Benign/Likely_benign
12	49051717	G	T	G49051717T	KMT2D	NM_003482.4(KMT2D):c.1966C>A:p.Leu656Met	coding	Benign
12	49051722	G	T	G49051722T	KMT2D	NM_003482.4(KMT2D):c.1961C>A:p.Ser654Tyr	coding	Benign/Likely_benign
12	49052287	G	A	G49052287A	KMT2D	NM_003482.4(KMT2D):c.1396C>T:p.Arg466Cys	coding	Benign/Likely_benign
12	49052306	G	C	G49052306C	KMT2D	NM_003482.4(KMT2D):c.1377C>G:p.Ser459=	coding	Benign
12	49052320	C	A	C49052320A	KMT2D	NM_003482.4(KMT2D):c.1363G>T:p.Glu455Ter	coding	Pathogenic
12	49052372	C	A	C49052372A	KMT2D	NM_003482.4(KMT2D):c.1311G>T:p.Glu437Asp	coding	Benign
12	49052387	G	A	G49052387A	KMT2D	NM_003482.4(KMT2D):c.1296C>T:p.Ala432=	coding	Benign/Likely_benign
12	49052437	C	T	C49052437T	KMT2D	NM_003482.4(KMT2D):c.1259-13G>A	noncoding	Benign
12	49052561	C	T	C49052561T	KMT2D	NM_003482.4(KMT2D):c.1258+3G>A	noncoding	Benign/Likely_benign
12	49052777	G	T	G49052777T	KMT2D	NM_003482.4(KMT2D):c.1113-68C>A	noncoding	Benign
12	49053011	C	T	C49053011T	KMT2D	NM_003482.4(KMT2D):c.1016G>A:p.Trp339Ter	coding	Pathogenic
12	49053043	C	T	C49053043T	KMT2D	NM_003482.4(KMT2D):c.984G>A:p.Ala328=	coding	Benign/Likely_benign
12	49053096	C	A	C49053096A	KMT2D	NM_003482.4(KMT2D):c.955-24G>T	noncoding	Benign
12	49053295	A	T	A49053295T	KMT2D	NM_003482.4(KMT2D):c.866T>A:p.Leu289Ter	coding	Pathogenic
12	49053302	T	C	T49053302C	KMT2D	NM_003482.4(KMT2D):c.859A>G:p.Lys287Glu	coding	Benign/Likely_benign
12	49053604	C	T	C49053604T	KMT2D	NM_003482.4(KMT2D):c.711G>A:p.Glu237=	coding	Benign
12	49053633	G	C	G49053633C	KMT2D	NM_003482.4(KMT2D):c.682C>G:p.Arg228Gly	coding	Benign/Likely_benign
12	49054025	G	A	G49054025A	KMT2D	NM_003482.4(KMT2D):c.626C>T:p.Thr209Ile	coding	Benign/Likely_benign
12	49054168	G	T	G49054168T	KMT2D	NM_003482.4(KMT2D):c.511-28C>A	noncoding	Benign
12	49054655	C	T	C49054655T	KMT2D	NM_003482.4(KMT2D):c.273G>A:p.Trp91Ter	coding	Pathogenic
12	49054752	C	T	C49054752T	KMT2D	NM_003482.4(KMT2D):c.177-1G>A	coding	Pathogenic
12	49054800	T	G	T49054800G	KMT2D	NM_003482.4(KMT2D):c.177-49A>C	noncoding	Benign
12	49054860	C	T	C49054860T	KMT2D	NM_003482.4(KMT2D):c.176+40G>A	noncoding	Benign
12	49055011	G	A	G49055011A	KMT2D	NM_003482.4(KMT2D):c.65C>T:p.Ala22Val	coding	Benign
12	49090046	A	G	A49090046G	DHH	NM_021044.4(DHH):c.1004T>C:p.Leu335Pro	coding	Pathogenic
12	49091590	C	G	C49091590G	DHH	NM_021044.4(DHH):c.304-201G>C	noncoding	Benign
12	49094144	G	A	G49094144A	DHH	NM_021044.4(DHH):c.303+66C>T	noncoding	Benign
12	49128822	C	T	C49128822T	TUBA1B	NM_006082.3(TUBA1B):c.492G>A:p.Lys164=	coding	Benign
12	49185100	A	C	A49185100C	TUBA1A	NM_006009.4(TUBA1A):c.1266T>G:p.Arg422=	coding	Benign
12	49185120	C	T	C49185120T	TUBA1A	NM_006009.4(TUBA1A):c.1246G>A:p.Gly416Ser	coding	Pathogenic/Likely_pathogenic
12	49185150	G	A	G49185150A	TUBA1A	NM_006009.4(TUBA1A):c.1216C>T:p.His406Tyr	coding	Pathogenic
12	49185150	G	C	G49185150C	TUBA1A	NM_006009.4(TUBA1A):c.1216C>G:p.His406Asp	coding	Pathogenic
12	49185185	T	C	T49185185C	TUBA1A	NM_006009.4(TUBA1A):c.1181A>G:p.Lys394Arg	coding	Pathogenic
12	49185290	G	A	G49185290A	TUBA1A	NM_006009.4(TUBA1A):c.1076C>T:p.Pro359Leu	coding	Pathogenic/Likely_pathogenic
12	49185317	C	A	C49185317A	TUBA1A	NM_006009.4(TUBA1A):c.1049G>T:p.Gly350Val	coding	Pathogenic/Likely_pathogenic
12	49185488	T	C	T49185488C	TUBA1A	NM_006009.4(TUBA1A):c.878A>G:p.Asn293Ser	coding	Pathogenic/Likely_pathogenic
12	49185580	A	G	A49185580G	TUBA1A	NM_006009.4(TUBA1A):c.786T>C:p.Tyr262=	coding	Benign/Likely_benign
12	49185710	A	G	A49185710G	TUBA1A	NM_006009.4(TUBA1A):c.656T>C:p.Ile219Thr	coding	Pathogenic
12	49185726	G	A	G49185726A	TUBA1A	NM_006009.4(TUBA1A):c.640C>T:p.Arg214Cys	coding	Pathogenic
12	49185935	C	A	C49185935A	TUBA1A	NM_006009.4(TUBA1A):c.431G>T:p.Gly144Val	coding	Pathogenic
12	49186417	C	G	C49186417G	TUBA1A	NM_006009.4(TUBA1A):c.268G>C:p.Glu90Gln	coding	Pathogenic
12	49186787	C	T	C49186787T	TUBA1A	NM_006009.4(TUBA1A):c.50G>A:p.Gly17Asp	coding	Pathogenic
12	49188909	T	G	T49188909G	TUBA1A	NM_006009.4(TUBA1A):c.3+68A>C	coding	Benign
12	49295097	C	G	C49295097G	PRPH	Single_allele	noncoding	Benign
12	49295177	G	C	G49295177C	PRPH	NM_006262.4(PRPH):c.-24G>C	noncoding	Benign
12	49295226	G	A	G49295226A	PRPH	NM_006262.4(PRPH):c.26G>A:p.Arg9Gln	coding	Benign
12	49295814	G	C	G49295814C	PRPH	NM_006262.4(PRPH):c.545+69G>C	coding	Benign
12	49296554	T	C	T49296554C	PRPH	NM_006262.4(PRPH):c.702+27T>C	coding	Benign
12	49296726	T	C	T49296726C	PRPH	NM_006262.4(PRPH):c.703-163T>C	coding	Benign
12	49297467	A	G	A49297467G	PRPH	NM_006262.4(PRPH):c.1107A>G:p.Lys369=	coding	Benign
12	49297620	C	A	C49297620A	PRPH	NM_006262.4(PRPH):c.1217+43C>A	coding	Benign
12	49297784	T	C	T49297784C	PRPH	NM_006262.4(PRPH):c.1267+58T>C	noncoding	Benign
12	49297924	T	C	T49297924C	PRPH	NM_006262.4(PRPH):c.1268-34T>C	noncoding	Benign
12	49297993	C	T	C49297993T	PRPH	NM_006262.4(PRPH):c.1303C>T:p.Arg435Trp	coding	Benign
12	49544030	A	G	A49544030G	KCNH3	NM_012284.3(KCNH3):c.939A>G:p.Ala313=	coding	Benign
12	49587731	C	G	C49587731G	FAM186B	NM_032130.3(FAM186B):c.2556G>C:p.Glu852Asp	coding	Benign
12	49587939	T	C	T49587939C	FAM186B	NM_032130.3(FAM186B):c.2535-187A>G	noncoding	Benign
12	49588455	G	A	G49588455A	FAM186B	NM_032130.3(FAM186B):c.2533C>T:p.Arg845Cys	coding	Benign
12	49588481	C	T	C49588481T	FAM186B	NM_032130.3(FAM186B):c.2507G>A:p.Arg836Gln	coding	Benign
12	49588536	G	A	G49588536A	FAM186B	NM_032130.3(FAM186B):c.2452C>T:p.Arg818Trp	coding	Benign
12	49599389	T	C	T49599389C	FAM186B	NM_032130.3(FAM186B):c.2171+80A>G	noncoding	Benign
12	49599895	C	T	C49599895T	FAM186B	NM_032130.3(FAM186B):c.1745G>A:p.Arg582Gln	coding	Benign
12	49599983	C	G	C49599983G	FAM186B	NM_032130.3(FAM186B):c.1657G>C:p.Glu553Gln	coding	Benign
12	49600271	A	C	A49600271C	FAM186B	NM_032130.3(FAM186B):c.1369T>G:p.Phe457Val	coding	Benign
12	49600875	C	G	C49600875G	FAM186B	NM_032130.3(FAM186B):c.765G>C:p.Arg255Ser	coding	Benign
12	49601002	G	A	G49601002A	FAM186B	NM_032130.3(FAM186B):c.638C>T:p.Thr213Met	coding	Benign
12	49603372	A	C	A49603372C	FAM186B	NM_032130.3(FAM186B):c.323-5T>G	noncoding	Benign
12	49603385	G	T	G49603385T	FAM186B	NM_032130.3(FAM186B):c.323-18C>A	noncoding	Benign
12	49604314	C	G	C49604314G	FAM186B	NM_032130.3(FAM186B):c.321G>C:p.Trp107Cys	coding	Benign
12	49605492	T	C	T49605492C	FAM186B	NM_032130.3(FAM186B):c.-15A>G	noncoding	Benign
12	49605758	C	T	C49605758T	FAM186B	Single_allele	noncoding	Benign
12	49950833	G	T	G49950833T	AQP2	NM_000486.6(AQP2):c.3G>T:p.Met1Ile	coding	Pathogenic
12	49950936	C	T	C49950936T	AQP2	NM_000486.6(AQP2):c.106C>T:p.Gln36Ter	coding	Pathogenic
12	49950957	C	T	C49950957T	AQP2	NM_000486.6(AQP2):c.127C>T:p.Gln43Ter	coding	Pathogenic
12	49951020	G	A	G49951020A	AQP2	NM_000486.6(AQP2):c.190G>A:p.Gly64Arg	coding	Pathogenic/Likely_pathogenic
12	49951083	C	T	C49951083T	AQP2	NM_000486.6(AQP2):c.253C>T:p.Arg85Ter	coding	Pathogenic
12	49951296	G	A	G49951296A	AQP2	NM_000486.6(AQP2):c.360+106G>A	noncoding	Benign
12	49951316	G	A	G49951316A	AQP2	NM_000486.6(AQP2):c.360+126G>A	noncoding	Benign
12	49951423	G	A	G49951423A	AQP2	NM_000486.6(AQP2):c.360+233G>A	noncoding	Benign
12	49951482	A	G	A49951482G	AQP2	NM_000486.6(AQP2):c.360+292A>G	noncoding	Benign
12	49951517	G	A	G49951517A	AQP2	NM_000486.6(AQP2):c.360+327G>A	coding	Benign
12	49953905	T	G	T49953905G	AQP2	NM_000486.6(AQP2):c.361-250T>G	noncoding	Benign
12	49954576	T	C	T49954576C	AQP2	NM_000486.6(AQP2):c.526-54T>C	noncoding	Benign
12	49954891	C	T	C49954891T	AQP2	NM_000486.6(AQP2):c.606+181C>T	noncoding	Benign
12	49955146	T	C	T49955146C	AQP2	NM_000486.6(AQP2):c.607-253T>C	noncoding	Benign
12	49955178	A	G	A49955178G	AQP2	NM_000486.6(AQP2):c.607-221A>G	noncoding	Benign
12	49955307	A	G	A49955307G	AQP2	NM_000486.6(AQP2):c.607-92A>G	noncoding	Benign
12	49955340	C	A	C49955340A	AQP2	NM_000486.6(AQP2):c.607-59C>A	noncoding	Benign
12	49955577	C	T	C49955577T	AQP2	NM_000486.6(AQP2):c.785C>T:p.Pro262Leu	coding	Pathogenic
12	49955628	C	A	C49955628A	AQP2	NM_000486.6(AQP2):c.*20C>A	noncoding	Benign
12	49962394	G	A	G49962394A	AQP5	NM_001651.4(AQP5):c.363+14G>A	noncoding	Benign
12	49963477	G	C	G49963477C	AQP5	NM_001651.4(AQP5):c.364-15G>C	noncoding	Benign
12	49964271	A	G	A49964271G	AQP5	NM_001651.4(AQP5):c.612+96A>G	noncoding	Benign
12	49964290	C	G	C49964290G	AQP5	NM_001651.4(AQP5):c.612+115C>G	noncoding	Benign
12	49964391	C	A	C49964391A	AQP5	NM_001651.4(AQP5):c.612+216C>A	noncoding	Benign
12	49964685	A	G	A49964685G	AQP5	NM_001651.4(AQP5):c.613-307A>G	noncoding	Benign
12	49964761	T	C	T49964761C	AQP5	NM_001651.4(AQP5):c.613-231T>C	noncoding	Benign
12	49965105	G	A	G49965105A	AQP5	NM_001651.4(AQP5):c.726G>A:p.Thr242=	coding	Benign
12	49965465	C	T	C49965465T	AQP5	NM_001651.4(AQP5):c.*288C>T	noncoding	Benign
12	49990388	T	C	T49990388C	RACGAP1	NM_001319999.2(RACGAP1):c.1824-45A>G	noncoding	Benign
12	49990566	T	C	T49990566C	RACGAP1	NM_001319999.2(RACGAP1):c.1823+118A>G	noncoding	Benign
12	49990686	A	G	A49990686G	RACGAP1	NM_001319999.2(RACGAP1):c.1821T>C:p.Pro607=	coding	Benign
12	49991880	T	C	T49991880C	RACGAP1	NM_001319999.2(RACGAP1):c.1714+118A>G	noncoding	Benign
12	49992232	C	T	C49992232T	RACGAP1	NM_001319999.2(RACGAP1):c.1578+13G>A	noncoding	Benign
12	49994087	C	T	C49994087T	RACGAP1	NM_001319999.2(RACGAP1):c.1339+44G>A	noncoding	Benign
12	49994176	G	A	G49994176A	RACGAP1	NM_001319999.2(RACGAP1):c.1294C>T:p.Pro432Ser	coding	Pathogenic
12	49994283	A	T	A49994283T	RACGAP1	NM_001319999.2(RACGAP1):c.1187T>A:p.Leu396Gln	coding	Pathogenic
12	49999589	G	T	G49999589T	RACGAP1	NM_001319999.2(RACGAP1):c.748+27C>A	noncoding	Benign
12	50002218	T	A	T50002218A	RACGAP1	NM_001319999.2(RACGAP1):c.549+29A>T	noncoding	Benign
12	50005130	A	G	A50005130G	RACGAP1	NM_001319999.2(RACGAP1):c.425+126T>C	noncoding	Benign
12	50016750	C	T	C50016750T	RACGAP1	NM_001319999.2(RACGAP1):c.-4-31G>A	noncoding	Benign
12	50086152	C	T	C50086152T	SMARCD1	NM_003076.5(SMARCD1):c.178-9C>T	noncoding	Benign
12	50086502	A	G	A50086502G	SMARCD1	NM_003076.5(SMARCD1):c.366-119A>G	noncoding	Benign
12	50088428	T	C	T50088428C	SMARCD1	NM_003076.5(SMARCD1):c.655-93T>C	noncoding	Benign
12	50089663	G	C	G50089663C	SMARCD1	NM_003076.5(SMARCD1):c.772-221G>C	noncoding	Benign
12	50090230	G	A	G50090230A	SMARCD1	NM_003076.5(SMARCD1):c.874-11G>A	noncoding	Benign
12	50094764	G	A	G50094764A	SMARCD1	NM_003076.5(SMARCD1):c.1269+192G>A	noncoding	Benign
12	50104356	T	G	T50104356G	GPD1	NM_005276.4(GPD1):c.42-218T>G	noncoding	Benign
12	50104752	G	A	G50104752A	GPD1	NM_005276.4(GPD1):c.219+1G>A	coding	Pathogenic
12	50104771	G	A	G50104771A	GPD1	NM_005276.4(GPD1):c.219+20G>A	noncoding	Benign
12	50106849	C	T	C50106849T	GPD1	NM_005276.4(GPD1):c.544C>T:p.Gln182Ter	coding	Pathogenic
12	50107466	T	C	T50107466C	GPD1	NM_005276.4(GPD1):c.613-101T>C	noncoding	Benign
12	50109299	A	G	A50109299G	GPD1	NM_005276.4(GPD1):c.954-124A>G	noncoding	Benign
12	50109486	C	T	C50109486T	GPD1	NM_005276.4(GPD1):c.1017C>T:p.Ile339=	coding	Benign
12	50118849	T	C	T50118849C	COX14	NM_032901.4(COX14):c.-8-1187T>C	noncoding	Benign
12	50119736	G	T	G50119736T	COX14	NM_032901.4(COX14):c.-8-300G>T	noncoding	Benign
12	50119904	C	T	C50119904T	COX14	NM_032901.4(COX14):c.-8-132C>T	noncoding	Benign
12	50334028	C	T	C50334028T	FAM186A	NM_001145475.3(FAM186A):c.6579G>A:p.Met2193Ile	coding	Benign
12	50360780	T	G	T50360780G	FAM186A	NM_001145475.3(FAM186A):c.559A>C:p.Lys187Gln	coding	Benign
12	50695833	T	C	T50695833C	DIP2B	NM_173602.3(DIP2B):c.1814-15T>C	noncoding	Benign
12	50695951	T	A	T50695951A	DIP2B	NM_173602.3(DIP2B):c.1917T>A:p.Thr639=	coding	Benign
12	50718803	T	C	T50718803C	DIP2B	NM_173602.3(DIP2B):c.2946T>C:p.Asn982=	coding	Benign
12	50737086	G	A	G50737086A	DIP2B	NM_173602.3(DIP2B):c.4152G>A:p.Pro1384=	coding	Benign
12	50741384	A	G	A50741384G	DIP2B	NM_173602.3(DIP2B):c.4355-32A>G	noncoding	Benign
12	50741492	T	C	T50741492C	DIP2B	NM_173602.3(DIP2B):c.4431T>C:p.Ile1477=	coding	Benign
12	50764080	G	T	G50764080T	ATF1	Single_allele	noncoding	Benign
12	50809588	C	T	C50809588T	ATF1	NM_005171.5(ATF1):c.327C>T:p.Tyr109=	coding	Benign
12	51009122	T	G	T51009122G	SLC11A2	NM_000617.3(SLC11A2):c.35-498A>C	coding	Benign
12	51028167	G	C	G51028167C	SLC11A2	NM_001174125.2(SLC11A2):c.49+10C>G	noncoding	Benign
12	51094453	A	G	A51094453G	TFCP2	NM_005653.5(TFCP2):c.*788T>C	noncoding	Benign
12	51591371	C	T	C51591371T	SCN8A	NM_001330260.2(SCN8A):c.-55+12C>T	noncoding	Benign
12	51662994	G	A	G51662994A	SCN8A	NM_001330260.2(SCN8A):c.177G>A:p.Leu59=	coding	Benign/Likely_benign
12	51663024	C	T	C51663024T	SCN8A	NM_001330260.2(SCN8A):c.207C>T:p.Tyr69=	coding	Benign/Likely_benign
12	51684127	A	G	A51684127G	SCN8A	NM_001330260.2(SCN8A):c.277-47A>G	noncoding	Benign
12	51684317	T	C	T51684317C	SCN8A	NM_001330260.2(SCN8A):c.395+25T>C	noncoding	Benign
12	51684336	G	A	G51684336A	SCN8A	NM_001330260.2(SCN8A):c.395+44G>A	noncoding	Benign
12	51686389	G	A	G51686389A	SCN8A	NM_001330260.2(SCN8A):c.417G>A:p.Met139Ile	coding	Pathogenic
12	51686474	T	C	T51686474C	SCN8A	NM_001330260.2(SCN8A):c.485+17T>C	noncoding	Benign/Likely_benign
12	51688714	G	A	G51688714A	SCN8A	NM_001330260.2(SCN8A):c.615-291G>A	noncoding	Benign
12	51688861	C	T	C51688861T	SCN8A	NM_001330260.2(SCN8A):c.615-144C>T	noncoding	Benign
12	51689022	T	G	T51689022G	SCN8A	NM_001330260.2(SCN8A):c.632T>G:p.Val211Gly	noncoding	Pathogenic
12	51689132	A	G	A51689132G	SCN8A	NM_001330260.2(SCN8A):c.706+36A>G	noncoding	Benign
12	51689137	C	G	C51689137G	SCN8A	NM_001330260.2(SCN8A):c.706+41C>G	noncoding	Benign
12	51699673	G	A	G51699673A	SCN8A	NM_001330260.2(SCN8A):c.810G>A:p.Leu270=	coding	Benign/Likely_benign
12	51699751	C	G	C51699751G	SCN8A	NM_001330260.2(SCN8A):c.888C>G:p.Gly296=	coding	Benign
12	51702737	T	C	T51702737C	SCN8A	NM_001330260.2(SCN8A):c.993-36T>C	noncoding	Benign
12	51705374	C	A	C51705374A	SCN8A	NM_001330260.2(SCN8A):c.1135-43C>A	noncoding	Benign
12	51705432	G	A	G51705432A	SCN8A	NM_001330260.2(SCN8A):c.1150G>A:p.Gly384Arg	coding	Pathogenic
12	51705521	T	C	T51705521C	SCN8A	NM_001330260.2(SCN8A):c.1239T>C:p.Ala413=	coding	Benign
12	51705831	T	C	T51705831C	SCN8A	NM_001330260.2(SCN8A):c.1341+208T>C	noncoding	Benign
12	51745899	A	T	A51745899T	SCN8A	NM_001330260.2(SCN8A):c.1999-4A>T	noncoding	Benign/Likely_benign
12	51746042	G	T	G51746042T	SCN8A	NM_001330260.2(SCN8A):c.2131+7G>T	noncoding	Benign
12	51746060	A	C	A51746060C	SCN8A	NM_001330260.2(SCN8A):c.2131+25A>C	noncoding	Benign
12	51751305	T	G	T51751305G	SCN8A	NM_001330260.2(SCN8A):c.2132-50T>G	noncoding	Benign
12	51751392	G	A	G51751392A	SCN8A	NM_001330260.2(SCN8A):c.2169G>A:p.Trp723Ter	coding	Pathogenic
12	51751510	A	G	A51751510G	SCN8A	NM_001330260.2(SCN8A):c.2287A>G:p.Ile763Val	coding	Pathogenic/Likely_pathogenic
12	51751523	C	T	C51751523T	SCN8A	NM_001330260.2(SCN8A):c.2300C>T:p.Thr767Ile	coding	Pathogenic/Likely_pathogenic
12	51751615	C	T	C51751615T	SCN8A	NM_001330260.2(SCN8A):c.2370+22C>T	noncoding	Benign
12	51751628	G	A	G51751628A	SCN8A	NM_001330260.2(SCN8A):c.2370+35G>A	noncoding	Benign
12	51762471	A	C	A51762471C	SCN8A	NM_001330260.2(SCN8A):c.2371-32A>C	noncoding	Benign
12	51762657	T	A	T51762657A	SCN8A	NM_001330260.2(SCN8A):c.2525T>A:p.Val842Glu	coding	Pathogenic
12	51762725	A	G	A51762725G	SCN8A	NM_001330260.2(SCN8A):c.2544+49A>G	noncoding	Benign
12	51765674	C	G	C51765674G	SCN8A	NM_001330260.2(SCN8A):c.2548C>G:p.Arg850Gly	coding	Pathogenic
12	51765746	G	A	G51765746A	SCN8A	NM_001330260.2(SCN8A):c.2620G>A:p.Ala874Thr	coding	Pathogenic/Likely_pathogenic
12	51765811	A	G	A51765811G	SCN8A	NM_001330260.2(SCN8A):c.2685A>G:p.Gln895=	coding	Benign
12	51766029	T	C	T51766029C	SCN8A	NM_001330260.2(SCN8A):c.2901+2T>C	noncoding	Pathogenic
12	51766094	A	G	A51766094G	SCN8A	NM_001330260.2(SCN8A):c.2901+67A>G	noncoding	Benign
12	51768856	C	T	C51768856T	SCN8A	NM_001330260.2(SCN8A):c.2902-9C>T	noncoding	Benign
12	51769538	G	C	G51769538C	SCN8A	NM_001330260.2(SCN8A):c.3372+203G>C	noncoding	Benign
12	51769819	G	A	G51769819A	SCN8A	NM_001330260.2(SCN8A):c.3373-49G>A	noncoding	Benign
12	51770620	C	T	C51770620T	SCN8A	NM_001330260.2(SCN8A):c.3582C>T:p.Ile1194=	coding	Benign/Likely_benign
12	51770697	G	C	G51770697C	SCN8A	NM_001330260.2(SCN8A):c.3645+14G>C	noncoding	Benign/Likely_benign
12	51774587	T	C	T51774587C	SCN8A	NM_001330260.2(SCN8A):c.3819+225T>C	noncoding	Benign
12	51780447	A	G	A51780447G	SCN8A	NM_001330260.2(SCN8A):c.3820-202A>G	noncoding	Benign
12	51780605	G	T	G51780605T	SCN8A	NM_001330260.2(SCN8A):c.3820-44G>T	noncoding	Benign
12	51780606	G	T	G51780606T	SCN8A	NM_001330260.2(SCN8A):c.3820-43G>T	noncoding	Benign
12	51780610	C	T	C51780610T	SCN8A	NM_001330260.2(SCN8A):c.3820-39C>T	noncoding	Benign
12	51780642	T	C	T51780642C	SCN8A	NM_001330260.2(SCN8A):c.3820-7T>C	noncoding	Benign/Likely_benign
12	51780743	G	C	G51780743C	SCN8A	NM_001330260.2(SCN8A):c.3914G>C:p.Arg1305Thr	coding	Pathogenic
12	51780751	T	C	T51780751C	SCN8A	NM_001330260.2(SCN8A):c.3922T>C:p.Ser1308Pro	coding	Pathogenic
12	51786542	G	A	G51786542A	SCN8A	NM_001330260.2(SCN8A):c.3943G>A:p.Val1315Met	coding	Pathogenic
12	51786543	T	C	T51786543C	SCN8A	NM_001330260.2(SCN8A):c.3944T>C:p.Val1315Ala	coding	Pathogenic
12	51786554	G	T	G51786554T	SCN8A	NM_001330260.2(SCN8A):c.3955G>T:p.Ala1319Ser	coding	Pathogenic/Likely_pathogenic
12	51786566	G	A	G51786566A	SCN8A	NM_001330260.2(SCN8A):c.3967G>A:p.Ala1323Thr	coding	Pathogenic/Likely_pathogenic
12	51786604	C	T	C51786604T	SCN8A	NM_001330260.2(SCN8A):c.4005C>T:p.Leu1335=	coding	Benign/Likely_benign
12	51788712	G	A	G51788712A	SCN8A	NM_001330260.2(SCN8A):c.4245G>A:p.Trp1415Ter	coding	Pathogenic
12	51788766	G	A	G51788766A	SCN8A	NM_001330260.2(SCN8A):c.4281+18G>A	noncoding	Benign
12	51789440	C	T	C51789440T	SCN8A	NM_001330260.2(SCN8A):c.4419+22C>T	noncoding	Benign
12	51789618	A	G	A51789618G	SCN8A	NM_001330260.2(SCN8A):c.4419+200A>G	noncoding	Benign
12	51794414	C	A	C51794414A	SCN8A	NM_001330260.2(SCN8A):c.4568C>A:p.Ala1523Asp	coding	Pathogenic
12	51794436	G	A	G51794436A	SCN8A	NM_001330260.2(SCN8A):c.4590G>A:p.Met1530Ile	coding	Benign/Likely_benign
12	51794690	T	A	T51794690A	SCN8A	NM_001330260.2(SCN8A):c.4795+49T>A	noncoding	Benign
12	51806244	C	A	C51806244A	SCN8A	NM_001330260.2(SCN8A):c.4796-38C>A	noncoding	Benign
12	51806247	C	A	C51806247A	SCN8A	NM_001330260.2(SCN8A):c.4796-35C>A	noncoding	Benign
12	51806362	C	T	C51806362T	SCN8A	NM_001330260.2(SCN8A):c.4876C>T:p.Arg1626Cys	coding	Pathogenic
12	51806366	T	A	T51806366A	SCN8A	NM_001330260.2(SCN8A):c.4880T>A:p.Ile1627Asn	coding	Pathogenic/Likely_pathogenic
12	51807066	G	A	G51807066A	SCN8A	NM_001330260.2(SCN8A):c.5580G>A:p.Gly1860=	coding	Benign/Likely_benign
12	51807105	C	T	C51807105T	SCN8A	NM_001330260.2(SCN8A):c.5619C>T:p.Phe1873=	coding	Benign/Likely_benign
12	51912002	C	T	C51912002T	ACVRL1	NM_000020.3(ACVRL1):c.-5-468C>T	noncoding	Benign
12	51912005	A	G	A51912005G	ACVRL1	NM_000020.3(ACVRL1):c.-5-465A>G	noncoding	Benign
12	51912542	A	T	A51912542T	ACVRL1	NM_000020.3(ACVRL1):c.61+7A>T	noncoding	Benign
12	51912903	C	G	C51912903G	ACVRL1	NM_000020.3(ACVRL1):c.62-196C>G	noncoding	Benign
12	51913110	A	T	A51913110T	ACVRL1	NM_000020.3(ACVRL1):c.73A>T:p.Lys25Ter	coding	Pathogenic
12	51913125	C	T	C51913125T	ACVRL1	NM_000020.3(ACVRL1):c.88C>T:p.Pro30Ser	coding	Benign/Likely_benign
12	51913138	G	A	G51913138A	ACVRL1	NM_000020.3(ACVRL1):c.101G>A:p.Cys34Tyr	coding	Pathogenic
12	51913158	T	G	T51913158G	ACVRL1	NM_000020.3(ACVRL1):c.121T>G:p.Cys41Gly	coding	Pathogenic
12	51913177	G	C	G51913177C	ACVRL1	NM_000020.3(ACVRL1):c.140G>C:p.Arg47Pro	coding	Pathogenic/Likely_pathogenic
12	51913179	G	A	G51913179A	ACVRL1	NM_000020.3(ACVRL1):c.142G>A:p.Gly48Arg	coding	Pathogenic
12	51913180	G	A	G51913180A	ACVRL1	NM_000020.3(ACVRL1):c.143G>A:p.Gly48Glu	coding	Pathogenic/Likely_pathogenic
12	51913230	G	T	G51913230T	ACVRL1	NM_000020.3(ACVRL1):c.193G>T:p.Glu65Ter	coding	Pathogenic
12	51913242	T	C	T51913242C	ACVRL1	NM_000020.3(ACVRL1):c.205T>C:p.Cys69Arg	coding	Pathogenic
12	51913347	G	T	G51913347T	ACVRL1	NM_000020.3(ACVRL1):c.310G>T:p.Glu104Ter	coding	Pathogenic
12	51913510	G	C	G51913510C	ACVRL1	NM_000020.3(ACVRL1):c.314-49G>C	noncoding	Benign
12	51913574	C	A	C51913574A	ACVRL1	NM_000020.3(ACVRL1):c.329C>A:p.Ser110Ter	coding	Pathogenic
12	51913574	C	T	C51913574T	ACVRL1	NM_000020.3(ACVRL1):c.329C>T:p.Ser110Leu	coding	Benign/Likely_benign
12	51913668	G	A	G51913668A	ACVRL1	NM_000020.3(ACVRL1):c.423G>A:p.Trp141Ter	coding	Pathogenic
12	51913750	C	T	C51913750T	ACVRL1	NM_000020.3(ACVRL1):c.505C>T:p.Gln169Ter	coding	Pathogenic
12	51913772	T	C	T51913772C	ACVRL1	NM_000020.3(ACVRL1):c.525+2T>C	noncoding	Pathogenic
12	51913994	C	A	C51913994A	ACVRL1	NM_000020.3(ACVRL1):c.546C>A:p.Cys182Ter	coding	Pathogenic/Likely_pathogenic
12	51914456	G	T	G51914456T	ACVRL1	NM_000020.3(ACVRL1):c.643G>T:p.Glu215Ter	coding	Pathogenic
12	51914476	G	A	G51914476A	ACVRL1	NM_000020.3(ACVRL1):c.663G>A:p.Trp221Ter	coding	Pathogenic
12	51914494	C	T	C51914494T	ACVRL1	NM_000020.3(ACVRL1):c.681C>T:p.Ala227=	coding	Benign/Likely_benign
12	51914529	G	A	G51914529A	ACVRL1	NM_000020.3(ACVRL1):c.716G>A:p.Trp239Ter	coding	Pathogenic
12	51914530	G	A	G51914530A	ACVRL1	NM_000020.3(ACVRL1):c.717G>A:p.Trp239Ter	coding	Pathogenic
12	51914585	G	A	G51914585A	ACVRL1	NM_000020.3(ACVRL1):c.772G>A:p.Gly258Ser	coding	Pathogenic
12	51914609	C	T	C51914609T	ACVRL1	NM_000020.3(ACVRL1):c.772+24C>T	noncoding	Benign/Likely_benign
12	51915239	G	A	G51915239A	ACVRL1	NM_000020.3(ACVRL1):c.787G>A:p.Asp263Asn	coding	Pathogenic
12	51915282	C	A	C51915282A	ACVRL1	NM_000020.3(ACVRL1):c.830C>A:p.Thr277Lys	coding	Pathogenic/Likely_pathogenic
12	51915282	C	G	C51915282G	ACVRL1	NM_000020.3(ACVRL1):c.830C>G:p.Thr277Arg	coding	Pathogenic/Likely_pathogenic
12	51915318	T	C	T51915318C	ACVRL1	NM_000020.3(ACVRL1):c.866T>C:p.Leu289Pro	coding	Pathogenic
12	51915320	C	T	C51915320T	ACVRL1	NM_000020.3(ACVRL1):c.868C>T:p.Gln290Ter	coding	Pathogenic
12	51915323	A	T	A51915323T	ACVRL1	NM_000020.3(ACVRL1):c.871A>T:p.Arg291Ter	coding	Pathogenic
12	51915377	G	A	G51915377A	ACVRL1	NM_000020.3(ACVRL1):c.925G>A:p.Gly309Ser	coding	Pathogenic
12	51915378	G	A	G51915378A	ACVRL1	NM_000020.3(ACVRL1):c.926G>A:p.Gly309Asp	coding	Pathogenic
12	51915413	C	T	C51915413T	ACVRL1	NM_000020.3(ACVRL1):c.961C>T:p.Gln321Ter	coding	Pathogenic
12	51915434	C	T	C51915434T	ACVRL1	NM_000020.3(ACVRL1):c.982C>T:p.His328Tyr	coding	Pathogenic/Likely_pathogenic
12	51915435	A	C	A51915435C	ACVRL1	NM_000020.3(ACVRL1):c.983A>C:p.His328Pro	coding	Pathogenic
12	51915484	T	A	T51915484A	ACVRL1	NM_000020.3(ACVRL1):c.1032T>A:p.Cys344Ter	coding	Pathogenic
12	51915501	G	A	G51915501A	ACVRL1	NM_000020.3(ACVRL1):c.1048+1G>A	coding	Pathogenic/Likely_pathogenic
12	51915501	G	T	G51915501T	ACVRL1	NM_000020.3(ACVRL1):c.1048+1G>T	coding	Pathogenic
12	51916056	C	T	C51916056T	ACVRL1	NM_000020.3(ACVRL1):c.1069C>T:p.Gln357Ter	coding	Pathogenic
12	51916070	C	A	C51916070A	ACVRL1	NM_000020.3(ACVRL1):c.1083C>A:p.Tyr361Ter	coding	Pathogenic
12	51916112	C	A	C51916112A	ACVRL1	NM_000020.3(ACVRL1):c.1125C>A:p.Tyr375Ter	coding	Pathogenic
12	51916113	A	G	A51916113G	ACVRL1	NM_000020.3(ACVRL1):c.1126A>G:p.Met376Val	coding	Pathogenic/Likely_pathogenic
12	51916116	G	A	G51916116A	ACVRL1	NM_000020.3(ACVRL1):c.1129G>A:p.Ala377Thr	coding	Pathogenic
12	51916148	G	A	G51916148A	ACVRL1	NM_000020.3(ACVRL1):c.1161G>A:p.Thr387=	coding	Benign/Likely_benign
12	51916176	G	A	G51916176A	ACVRL1	NM_000020.3(ACVRL1):c.1189G>A:p.Asp397Asn	coding	Pathogenic/Likely_pathogenic
12	51916205	G	T	G51916205T	ACVRL1	NM_000020.3(ACVRL1):c.1218G>T:p.Trp406Cys	coding	Pathogenic/Likely_pathogenic
12	51916235	T	C	T51916235C	ACVRL1	NM_000020.3(ACVRL1):c.1246+2T>C	noncoding	Pathogenic
12	51918970	A	G	A51918970G	ACVRL1	NM_000020.3(ACVRL1):c.1247-15A>G	noncoding	Benign/Likely_benign
12	51919015	A	G	A51919015G	ACVRL1	NM_000020.3(ACVRL1):c.1277A>G:p.Tyr426Cys	coding	Pathogenic/Likely_pathogenic
12	51919035	C	T	C51919035T	ACVRL1	NM_000020.3(ACVRL1):c.1297C>T:p.Pro433Ser	coding	Pathogenic/Likely_pathogenic
12	51919067	T	A	T51919067A	ACVRL1	NM_000020.3(ACVRL1):c.1329T>A:p.Cys443Ter	coding	Pathogenic
12	51919077	C	T	C51919077T	ACVRL1	NM_000020.3(ACVRL1):c.1339C>T:p.Gln447Ter	coding	Pathogenic
12	51919412	T	A	T51919412A	ACVRL1	NM_000020.3(ACVRL1):c.1377+297T>A	noncoding	Benign
12	51920060	C	T	C51920060T	ACVRL1	NM_000020.3(ACVRL1):c.1378-699C>T	noncoding	Benign
12	51920203	C	T	C51920203T	ACVRL1	NM_000020.3(ACVRL1):c.1378-556C>T	noncoding	Benign
12	51920420	T	G	T51920420G	ACVRL1	NM_000020.3(ACVRL1):c.1378-339T>G	noncoding	Benign
12	51920757	A	G	A51920757G	ACVRL1	NM_000020.3(ACVRL1):c.1378-2A>G	noncoding	Pathogenic
12	51920796	G	A	G51920796A	ACVRL1	NM_000020.3(ACVRL1):c.1415G>A:p.Trp472Ter	coding	Pathogenic
12	51920797	G	A	G51920797A	ACVRL1	NM_000020.3(ACVRL1):c.1416G>A:p.Trp472Ter	coding	Pathogenic
12	51920826	C	T	C51920826T	ACVRL1	NM_000020.3(ACVRL1):c.1445C>T:p.Ala482Val	coding	Benign/Likely_benign
12	51954475	A	G	A51954475G	ACVR1B	NM_004302.5(ACVR1B):c.91+2641A>G	noncoding	Benign
12	51984099	G	A	G51984099A	ACVR1B	NM_004302.5(ACVR1B):c.912G>A:p.Met304Ile	coding	Pathogenic
12	52286153	C	G	C52286153G	KRT81	NM_002281.4(KRT81):c.*102G>C	noncoding	Benign
12	52286224	T	C	T52286224C	KRT81	NM_002281.4(KRT81):c.*31A>G	noncoding	Benign
12	52286320	C	T	C52286320T	KRT81;KRT86	NM_002281.4(KRT81):c.1453G>A:p.Val485Met	coding	Benign
12	52286388	G	A	G52286388A	KRT81	NM_002281.4(KRT81):c.1385C>T:p.Ala462Val	coding	Benign
12	52286982	G	A	G52286982A	KRT81	NM_002281.4(KRT81):c.1247+120C>T	noncoding	Benign
12	52287272	C	T	C52287272T	KRT81	NM_002281.4(KRT81):c.1077G>A:p.Ala359=	coding	Benign
12	52287296	G	A	G52287296A	KRT81	NM_002281.4(KRT81):c.1053C>T:p.Ala351=	coding	Benign
12	52287498	T	C	T52287498C	KRT81	NM_002281.4(KRT81):c.1026+98A>G	noncoding	Benign
12	52287632	T	C	T52287632C	KRT81	NM_002281.4(KRT81):c.990A>G:p.Gln330=	coding	Benign
12	52287653	A	G	A52287653G	KRT81	NM_002281.4(KRT81):c.969T>C:p.Asn323=	coding	Benign
12	52287676	G	A	G52287676A	KRT81	NM_002281.4(KRT81):c.946C>T:p.Arg316Cys	coding	Benign
12	52287749	T	C	T52287749C	KRT81	NM_002281.4(KRT81):c.901-28A>G	noncoding	Benign
12	52287930	T	C	T52287930C	KRT81	NM_002281.4(KRT81):c.900+54A>G	noncoding	Benign
12	52287949	A	C	A52287949C	KRT81	NM_002281.4(KRT81):c.900+35T>G	noncoding	Benign
12	52288141	A	C	A52288141C	KRT81	NM_002281.4(KRT81):c.743T>G:p.Leu248Arg	coding	Benign
12	52288184	T	C	T52288184C	KRT81	NM_002281.4(KRT81):c.736-36A>G	noncoding	Benign
12	52288357	G	A	G52288357A	KRT81	NM_002281.4(KRT81):c.735+4C>T	noncoding	Benign
12	52291429	T	G	T52291429G	KRT81	NM_002281.4(KRT81):c.37A>C:p.Ser13Arg	coding	Benign
12	52291649	C	G	C52291649G	KRT81	NM_001320198.2(KRT86):c.-4-10264C>G	noncoding	Benign
12	52291761	C	T	C52291761T	KRT81	NM_001320198.2(KRT86):c.-4-10152C>T	noncoding	Benign
12	52301846	C	T	C52301846T	KRT86	NM_001320198.2(KRT86):c.-4-67C>T	noncoding	Benign
12	52301970	C	T	C52301970T	KRT86	NM_001320198.2(KRT86):c.54C>T:p.Cys18=	coding	Benign
12	52302003	C	T	C52302003T	KRT86	NM_001320198.2(KRT86):c.87C>T:p.Ala29=	coding	Benign
12	52302264	G	A	G52302264A	KRT86	NM_001320198.2(KRT86):c.348G>A:p.Arg116=	coding	Benign
12	52303146	A	C	A52303146C	KRT86	NM_001320198.2(KRT86):c.416A>C:p.Gln139Pro	coding	Benign
12	52303486	G	C	G52303486C	KRT86	NM_001320198.2(KRT86):c.578+178G>C	noncoding	Benign
12	52303960	T	C	T52303960C	KRT86	NM_001320198.2(KRT86):c.579-151T>C	noncoding	Benign
12	52303964	A	C	A52303964C	KRT86	NM_001320198.2(KRT86):c.579-147A>C	noncoding	Benign
12	52303967	C	G	C52303967G	KRT86	NM_001320198.2(KRT86):c.579-144C>G	noncoding	Benign
12	52304018	T	C	T52304018C	KRT86	NM_001320198.2(KRT86):c.579-93T>C	noncoding	Benign
12	52304022	C	T	C52304022T	KRT86	NM_001320198.2(KRT86):c.579-89C>T	noncoding	Benign
12	52304025	G	C	G52304025C	KRT86	NM_001320198.2(KRT86):c.579-86G>C	noncoding	Benign
12	52304168	G	A	G52304168A	KRT86	NM_001320198.2(KRT86):c.636G>A:p.Lys212=	coding	Benign
12	52304440	C	T	C52304440T	KRT86	NM_001320198.2(KRT86):c.639+269C>T	noncoding	Benign
12	52304442	A	G	A52304442G	KRT86	NM_001320198.2(KRT86):c.639+271A>G	noncoding	Benign
12	52304444	T	G	T52304444G	KRT86	NM_001320198.2(KRT86):c.639+273T>G	noncoding	Benign
12	52304446	C	T	C52304446T	KRT86	NM_001320198.2(KRT86):c.639+275C>T	noncoding	Benign
12	52304451	G	T	G52304451T	KRT86	NM_001320198.2(KRT86):c.639+280G>T	noncoding	Benign
12	52304452	C	T	C52304452T	KRT86	NM_001320198.2(KRT86):c.639+281C>T	noncoding	Benign
12	52304461	C	A	C52304461A	KRT86	NM_001320198.2(KRT86):c.639+290C>A	noncoding	Benign
12	52304472	A	T	A52304472T	KRT86	NM_001320198.2(KRT86):c.639+301A>T	noncoding	Benign
12	52304976	T	C	T52304976C	KRT86	NM_001320198.2(KRT86):c.684T>C:p.Asn228=	coding	Benign
12	52305377	T	C	T52305377C	KRT86	NM_001320198.2(KRT86):c.873T>C:p.Ala291=	coding	Benign
12	52305429	G	T	G52305429T	KRT86	NM_001320198.2(KRT86):c.900+25G>T	noncoding	Benign
12	52305764	T	C	T52305764C	KRT86	NM_001320198.2(KRT86):c.1002T>C:p.Ala334=	coding	Benign
12	52305944	G	A	G52305944A	KRT86	NM_001320198.2(KRT86):c.1027-116G>A	noncoding	Benign
12	52306316	C	A	C52306316A	KRT86	NM_001320198.2(KRT86):c.1247+36C>A	noncoding	Benign
12	52307924	T	C	T52307924C	KRT86	NM_001320198.2(KRT86):c.1248-309T>C	noncoding	Benign
12	52308679	A	G	A52308679G	KRT86	NM_001320198.2(KRT86):c.*94A>G	noncoding	Benign
12	52308712	C	T	C52308712T	KRT86	NM_001320198.2(KRT86):c.*127C>T	noncoding	Benign
12	52308849	G	A	G52308849A	KRT86	NM_001320198.2(KRT86):c.*264G>A	noncoding	Benign
12	52308872	A	G	A52308872G	KRT86	NM_001320198.2(KRT86):c.*287A>G	noncoding	Benign
12	52315194	T	C	T52315194C	KRT83	NM_002282.3(KRT83):c.1294+118A>G	noncoding	Benign
12	52315248	T	C	T52315248C	KRT83	NM_002282.3(KRT83):c.1294+64A>G	noncoding	Benign
12	52315438	T	C	T52315438C	KRT83	NM_002282.3(KRT83):c.1263-95A>G	noncoding	Benign
12	52315645	A	G	A52315645G	KRT83	NM_002282.3(KRT83):c.1262+248T>C	noncoding	Benign
12	52316197	C	A	C52316197A	KRT83	NM_002282.3(KRT83):c.1042-84G>T	noncoding	Benign
12	52316253	A	G	A52316253G	KRT83	NM_002282.3(KRT83):c.1042-140T>C	noncoding	Benign
12	52316318	C	T	C52316318T	KRT83	NM_002282.3(KRT83):c.1041+150G>A	noncoding	Benign
12	52316414	C	T	C52316414T	KRT83	NM_002282.3(KRT83):c.1041+54G>A	noncoding	Benign
12	52317113	T	C	T52317113C	KRT83	NM_002282.3(KRT83):c.751-90A>G	noncoding	Benign
12	52317114	G	A	G52317114A	KRT83	NM_002282.3(KRT83):c.751-91C>T	noncoding	Benign
12	52317129	A	G	A52317129G	KRT83	NM_002282.3(KRT83):c.751-106T>C	noncoding	Benign
12	52317432	T	C	T52317432C	KRT83	NM_002282.3(KRT83):c.750+249A>G	noncoding	Benign
12	52317591	G	C	G52317591C	KRT83	NM_002282.3(KRT83):c.750+90C>G	noncoding	Benign
12	52317632	A	G	A52317632G	KRT83	NM_002282.3(KRT83):c.750+49T>C	noncoding	Benign
12	52317840	C	T	C52317840T	KRT83	NM_002282.3(KRT83):c.655-64G>A	noncoding	Benign
12	52317992	G	A	G52317992A	KRT83	NM_002282.3(KRT83):c.594-22C>T	noncoding	Benign
12	52318962	C	T	C52318962T	KRT83	NM_002282.3(KRT83):c.593+194G>A	noncoding	Benign
12	52319029	A	G	A52319029G	KRT83	NM_002282.3(KRT83):c.593+127T>C	noncoding	Benign
12	52319033	G	A	G52319033A	KRT83	NM_002282.3(KRT83):c.593+123C>T	noncoding	Benign
12	52319114	A	G	A52319114G	KRT83	NM_002282.3(KRT83):c.593+42T>C	noncoding	Benign
12	52319434	C	T	C52319434T	KRT83	NM_002282.3(KRT83):c.385-70G>A	noncoding	Benign
12	52319633	T	A	T52319633A	KRT83	NM_002282.3(KRT83):c.385-269A>T	noncoding	Benign
12	52320638	G	A	G52320638A	KRT83	NM_002282.3(KRT83):c.384+314C>T	noncoding	Benign
12	52321579	C	T	C52321579T	KRT83	Single_allele	noncoding	Benign
12	52360706	G	T	G52360706T	KRT85	NM_002283.4(KRT85):c.*147C>A	noncoding	Benign
12	52360731	T	C	T52360731C	KRT85	NM_002283.4(KRT85):c.*122A>G	noncoding	Benign
12	52361169	G	A	G52361169A	KRT85	NM_002283.4(KRT85):c.1331-123C>T	noncoding	Benign
12	52361313	A	T	A52361313T	KRT85	NM_002283.4(KRT85):c.1330+154T>A	noncoding	Benign
12	52361405	A	G	A52361405G	KRT85	NM_002283.4(KRT85):c.1330+62T>C	noncoding	Benign
12	52361557	T	C	T52361557C	KRT85	NM_002283.4(KRT85):c.1299-59A>G	noncoding	Benign
12	52362881	C	T	C52362881T	KRT85	NM_002283.4(KRT85):c.1050G>A:p.Thr350=	coding	Benign
12	52363129	C	A	C52363129A	KRT85	NM_002283.4(KRT85):c.951+117G>T	noncoding	Benign
12	52365026	C	T	C52365026T	KRT85	NM_002283.4(KRT85):c.565G>A:p.Asp189Asn	coding	Benign
12	52365210	G	C	G52365210C	KRT85	NM_002283.4(KRT85):c.421-40C>G	noncoding	Benign
12	52365455	G	A	G52365455A	KRT85	NM_002283.4(KRT85):c.421-285C>T	noncoding	Benign
12	52366948	G	A	G52366948A	KRT85	NM_002283.4(KRT85):c.420+38C>T	noncoding	Benign
12	52367259	C	T	C52367259T	KRT85	NM_002283.4(KRT85):c.147G>A:p.Thr49=	coding	Benign
12	52367685	A	C	A52367685C	KRT85	Single_allele	noncoding	Benign
12	52447260	A	G	A52447260G	KRT6B	NM_005555.4(KRT6B):c.1625T>C:p.Val542Ala	coding	Benign
12	52447395	T	C	T52447395C	KRT6B	NM_005555.4(KRT6B):c.1490A>G:p.Tyr497Cys	coding	Benign
12	52447765	G	A	G52447765A	KRT6B	NM_005555.4(KRT6B):c.1424+13C>T	noncoding	Benign
12	52447806	G	A	G52447806A	KRT6B	NM_005555.4(KRT6B):c.1396C>T:p.Arg466Cys	coding	Benign
12	52447894	C	T	C52447894T	KRT6B	NM_005555.4(KRT6B):c.1308G>A:p.Lys436=	coding	Benign
12	52447981	G	A	G52447981A	KRT6B	NM_005555.4(KRT6B):c.1221C>T:p.Ala407=	coding	Benign
12	52448859	C	T	C52448859T	KRT6B	NM_005555.4(KRT6B):c.1186G>A:p.Asp396Asn	coding	Benign
12	52448952	T	C	T52448952C	KRT6B	NM_005555.4(KRT6B):c.1093A>G:p.Ile365Val	coding	Benign
12	52448978	G	A	G52448978A	KRT6B	NM_005555.4(KRT6B):c.1078-11C>T	noncoding	Benign
12	52449750	T	A	T52449750A	KRT6B	NM_005555.4(KRT6B):c.912+8A>T	noncoding	Benign
12	52449995	T	C	T52449995C	KRT6B	NM_005555.4(KRT6B):c.816+17A>G	noncoding	Benign
12	52450459	A	G	A52450459G	KRT6B	NM_005555.4(KRT6B):c.702T>C:p.Arg234=	coding	Benign
12	52450462	A	G	A52450462G	KRT6B	NM_005555.4(KRT6B):c.699T>C:p.Gly233=	coding	Benign
12	52450481	T	C	T52450481C	KRT6B	NM_005555.4(KRT6B):c.680A>G:p.Asn227Ser	coding	Benign
12	52450552	G	A	G52450552A	KRT6B	NM_005555.4(KRT6B):c.609C>T:p.Thr203=	coding	Benign
12	52450574	G	A	G52450574A	KRT6B	NM_005555.4(KRT6B):c.587C>T:p.Thr196Ile	coding	Benign
12	52450594	C	G	C52450594G	KRT6B	NM_005555.4(KRT6B):c.567G>C:p.Lys189Asn	coding	Benign
12	52451662	A	G	A52451662G	KRT6B	NM_005555.4(KRT6B):c.417T>C:p.Thr139=	coding	Benign
12	52451790	C	T	C52451790T	KRT6B	NM_005555.4(KRT6B):c.289G>A:p.Gly97Arg	coding	Benign
12	52452017	T	C	T52452017C	KRT6B	NM_005555.4(KRT6B):c.62A>G:p.Asn21Ser	coding	Benign
12	52469144	C	G	C52469144G	KRT6C	NM_173086.5(KRT6C):c.1613G>C:p.Gly538Ala	coding	Benign
12	52469248	G	A	G52469248A	KRT6C	NM_173086.5(KRT6C):c.1509C>T:p.Val503=	coding	Benign
12	52469254	G	A	G52469254A	KRT6C	NM_173086.5(KRT6C):c.1503C>T:p.Ser501=	coding	Benign
12	52469307	G	T	G52469307T	KRT6C	NM_173086.5(KRT6C):c.1460-10C>A	noncoding	Benign
12	52469429	C	T	C52469429T	KRT6C	NM_173086.5(KRT6C):c.1441G>A:p.Val481Ile	coding	Benign
12	52469780	C	T	C52469780T	KRT6C	NM_173086.5(KRT6C):c.1314G>A:p.Lys438=	coding	Benign
12	52469837	T	G	T52469837G	KRT6C	NM_173086.5(KRT6C):c.1257A>C:p.Ala419=	coding	Benign/Likely_benign
12	52471186	G	A	G52471186A	KRT6C	NM_173086.5(KRT6C):c.1023C>T:p.Tyr341=	coding	Benign
12	52471659	T	C	T52471659C	KRT6C	NM_173086.5(KRT6C):c.816+13A>G	noncoding	Benign
12	52472053	A	G	A52472053G	KRT6C	NM_173086.5(KRT6C):c.755+13T>C	noncoding	Benign
12	52472134	G	C	G52472134C	KRT6C	NM_173086.5(KRT6C):c.687C>G:p.Val229=	coding	Benign
12	52472276	C	T	C52472276T	KRT6C	NM_173086.5(KRT6C):c.545G>A:p.Arg182Gln	coding	Benign
12	52473310	C	T	C52473310T	KRT6C	NM_173086.5(KRT6C):c.428G>A:p.Ser143Asn	coding	Benign
12	52473321	G	A	G52473321A	KRT6C	NM_173086.5(KRT6C):c.417C>T:p.Thr139=	coding	Benign
12	52473540	G	T	G52473540T	KRT6C	NM_173086.5(KRT6C):c.198C>A:p.Gly66=	coding	Benign
12	52473555	C	T	C52473555T	KRT6C	NM_173086.5(KRT6C):c.183G>A:p.Leu61=	coding	Benign
12	52473557	G	A	G52473557A	KRT6C	NM_173086.5(KRT6C):c.181C>T:p.Leu61=	coding	Benign
12	52473558	A	G	A52473558G	KRT6C	NM_173086.5(KRT6C):c.180T>C:p.Ser60=	coding	Benign
12	52487760	G	C	G52487760C	KRT6A	NM_005554.4(KRT6A):c.1655C>G:p.Thr552Ser	coding	Benign
12	52487848	C	A	C52487848A	KRT6A	NM_005554.4(KRT6A):c.1567G>T:p.Val523Phe	coding	Benign
12	52488072	T	C	T52488072C	KRT6A	NM_005554.4(KRT6A):c.1456A>G:p.Ile486Val	coding	Benign
12	52488126	G	A	G52488126A	KRT6A	NM_005554.4(KRT6A):c.1425-23C>T	noncoding	Benign
12	52488310	T	G	T52488310G	KRT6A	NM_005554.4(KRT6A):c.1424+18A>C	noncoding	Benign
12	52489930	T	C	T52489930C	KRT6A	NM_005554.4(KRT6A):c.1203+13A>G	noncoding	Benign
12	52490725	G	A	G52490725A	KRT6A	NM_005554.4(KRT6A):c.921C>T:p.Ser307=	coding	Benign
12	52490839	G	A	G52490839A	KRT6A	NM_005554.4(KRT6A):c.912+19C>T	noncoding	Benign
12	52490951	A	G	A52490951G	KRT6A	NM_005554.4(KRT6A):c.819T>C:p.Asp273=	coding	Benign
12	52492640	C	T	C52492640T	KRT6A	NM_005554.4(KRT6A):c.540+9G>A	noncoding	Benign
12	52492694	T	C	T52492694C	KRT6A	NM_005554.4(KRT6A):c.495A>G:p.Glu165=	coding	Benign/Likely_benign
12	52492706	A	G	A52492706G	KRT6A	NM_005554.4(KRT6A):c.483T>C:p.Ala161=	coding	Benign
12	52493127	T	C	T52493127C	KRT6A	NM_005554.4(KRT6A):c.62A>G:p.Asn21Ser	coding	Benign
12	52515277	T	A	T52515277A	KRT5	NM_000424.4(KRT5):c.1475-37A>T	noncoding	Benign
12	52515635	T	C	T52515635C	KRT5	NM_000424.4(KRT5):c.1474+163A>G	noncoding	Benign
12	52515833	C	T	C52515833T	KRT5	NM_000424.4(KRT5):c.1440-1G>A	coding	Pathogenic
12	52516638	T	A	T52516638A	KRT5	NM_000424.4(KRT5):c.1438A>T:p.Arg480Ter	coding	Pathogenic
12	52516649	C	T	C52516649T	KRT5	NM_000424.4(KRT5):c.1427G>A:p.Gly476Asp	coding	Pathogenic
12	52516670	G	C	G52516670C	KRT5	NM_000424.4(KRT5):c.1406C>G:p.Thr469Ser	coding	Pathogenic
12	52516678	C	G	C52516678G	KRT5	NM_000424.4(KRT5):c.1398G>C:p.Glu466Asp	coding	Pathogenic/Likely_pathogenic
12	52516680	C	G	C52516680G	KRT5	NM_000424.4(KRT5):c.1396G>C:p.Glu466Gln	coding	Pathogenic
12	52516793	G	A	G52516793A	KRT5	NM_000424.4(KRT5):c.1283C>T:p.Ala428Val	coding	Pathogenic
12	52516794	C	T	C52516794T	KRT5	NM_000424.4(KRT5):c.1282G>A:p.Ala428Thr	coding	Pathogenic
12	52516903	G	T	G52516903T	KRT5	NM_000424.4(KRT5):c.1219-46C>A	noncoding	Benign
12	52516928	A	G	A52516928G	KRT5	NM_000424.4(KRT5):c.1219-71T>C	noncoding	Benign
12	52517067	A	G	A52517067G	KRT5	NM_000424.4(KRT5):c.1218+40T>C	noncoding	Benign
12	52517699	T	A	T52517699A	KRT5	NM_000424.4(KRT5):c.983A>T:p.Asp328Val	coding	Pathogenic
12	52517721	T	G	T52517721G	KRT5	NM_000424.4(KRT5):c.961A>C:p.Thr321Pro	coding	Pathogenic
12	52519120	T	A	T52519120A	KRT5	NM_000424.4(KRT5):c.596A>T:p.Lys199Met	coding	Pathogenic
12	52519129	A	G	A52519129G	KRT5	NM_000424.4(KRT5):c.587T>C:p.Leu196Pro	coding	Pathogenic/Likely_pathogenic
12	52519145	G	C	G52519145C	KRT5	NM_000424.4(KRT5):c.571C>G:p.Gln191Glu	coding	Pathogenic
12	52519159	A	T	A52519159T	KRT5	NM_000424.4(KRT5):c.557T>A:p.Val186Glu	coding	Pathogenic
12	52519176	G	C	G52519176C	KRT5	NM_000424.4(KRT5):c.556-16C>G	noncoding	Pathogenic
12	52519770	T	C	T52519770C	KRT5	NM_000424.4(KRT5):c.527A>G:p.Asn176Ser	coding	Pathogenic
12	52519916	G	A	G52519916A	KRT5	NM_000424.4(KRT5):c.381C>T:p.Phe127=	coding	Benign/Likely_benign
12	52520211	C	T	C52520211T	KRT5	NM_000424.4(KRT5):c.86G>A:p.Arg29His	coding	Benign
12	52544536	C	T	C52544536T	KRT71	NM_033448.3(KRT71):c.1568G>A:p.Arg523Gln	coding	Benign
12	52544580	T	C	T52544580C	KRT71	NM_033448.3(KRT71):c.1524A>G:p.Leu508=	coding	Benign
12	52544713	A	C	A52544713C	KRT71	NM_033448.3(KRT71):c.1391T>G:p.Val464Gly	coding	Benign
12	52544751	A	G	A52544751G	KRT71	NM_033448.3(KRT71):c.1361-8T>C	noncoding	Benign
12	52544921	C	T	C52544921T	KRT71	NM_033448.3(KRT71):c.1361-178G>A	noncoding	Benign
12	52545441	G	A	G52545441A	KRT71	NM_033448.3(KRT71):c.1360+124C>T	noncoding	Benign
12	52545981	A	G	A52545981G	KRT71	NM_033448.3(KRT71):c.1325+305T>C	noncoding	Benign
12	52546044	C	T	C52546044T	KRT71	NM_033448.3(KRT71):c.1325+242G>A	noncoding	Benign
12	52546210	T	C	T52546210C	KRT71	NM_033448.3(KRT71):c.1325+76A>G	noncoding	Benign
12	52546279	C	T	C52546279T	KRT71	NM_033448.3(KRT71):c.1325+7G>A	noncoding	Benign
12	52546384	C	T	C52546384T	KRT71	NM_033448.3(KRT71):c.1227G>A:p.Ala409=	coding	Benign
12	52546813	A	G	A52546813G	KRT71	NM_033448.3(KRT71):c.1105-307T>C	noncoding	Benign
12	52547745	T	C	T52547745C	KRT71	NM_033448.3(KRT71):c.1104+112A>G	noncoding	Benign
12	52548110	C	T	C52548110T	KRT71	NM_033448.3(KRT71):c.978+42G>A	noncoding	Benign
12	52548451	G	T	G52548451T	KRT71	NM_033448.3(KRT71):c.814-135C>A	noncoding	Benign
12	52548517	C	T	C52548517T	KRT71	NM_033448.3(KRT71):c.813+184G>A	noncoding	Benign
12	52548578	G	A	G52548578A	KRT71	NM_033448.3(KRT71):c.813+123C>T	noncoding	Benign
12	52548910	C	T	C52548910T	KRT71	NM_033448.3(KRT71):c.718-114G>A	noncoding	Benign
12	52549214	C	T	C52549214T	KRT71	NM_033448.3(KRT71):c.717+79G>A	noncoding	Benign
12	52549360	G	A	G52549360A	KRT71	NM_033448.3(KRT71):c.657-7C>T	noncoding	Benign
12	52549900	T	C	T52549900C	KRT71	NM_033448.3(KRT71):c.656+129A>G	noncoding	Benign
12	52550276	T	C	T52550276C	KRT71	NM_033448.3(KRT71):c.442-33A>G	noncoding	Benign
12	52552552	A	G	A52552552G	KRT71	NM_033448.3(KRT71):c.441+85T>C	noncoding	Benign
12	52552562	C	G	C52552562G	KRT71	NM_033448.3(KRT71):c.441+75G>C	noncoding	Benign
12	52552714	C	T	C52552714T	KRT71	NM_033448.3(KRT71):c.364G>A:p.Glu122Lys	coding	Benign
12	52552759	C	T	C52552759T	KRT71	NM_033448.3(KRT71):c.319G>A:p.Val107Ile	coding	Benign
12	52553041	C	T	C52553041T	KRT71	NM_033448.3(KRT71):c.37G>A:p.Ala13Thr	coding	Benign
12	52553106	A	G	A52553106G	KRT71	NM_033448.3(KRT71):c.-29T>C	noncoding	Benign
12	52553290	C	T	C52553290T	KRT71	Single_allele	noncoding	Benign
12	52553392	C	T	C52553392T	KRT71	Single_allele	noncoding	Benign
12	52567052	T	C	T52567052C	KRT74	NM_175053.4(KRT74):c.1507A>G:p.Thr503Ala	coding	Benign
12	52567100	C	T	C52567100T	KRT74	NM_175053.4(KRT74):c.1459G>A:p.Ala487Thr	coding	Benign
12	52567369	C	A	C52567369A	KRT74	NM_175053.4(KRT74):c.1391-201G>T	noncoding	Benign
12	52567370	A	G	A52567370G	KRT74	NM_175053.4(KRT74):c.1391-202T>C	noncoding	Benign
12	52567433	C	G	C52567433G	KRT74	NM_175053.4(KRT74):c.1390+226G>C	noncoding	Benign
12	52567521	A	T	A52567521T	KRT74	NM_175053.4(KRT74):c.1390+138T>A	noncoding	Benign
12	52567534	C	T	C52567534T	KRT74	NM_175053.4(KRT74):c.1390+125G>A	noncoding	Benign
12	52567926	G	A	G52567926A	KRT74	NM_175053.4(KRT74):c.1356-233C>T	noncoding	Benign
12	52568735	C	A	C52568735A	KRT74	NM_175053.4(KRT74):c.1135-346G>T	noncoding	Benign
12	52569995	A	G	A52569995G	KRT74	NM_175053.4(KRT74):c.1009-11T>C	noncoding	Benign
12	52570102	T	C	T52570102C	KRT74	NM_175053.4(KRT74):c.1009-118A>G	noncoding	Benign
12	52570407	C	A	C52570407A	KRT74	NM_175053.4(KRT74):c.1008+262G>T	noncoding	Benign
12	52570559	C	A	C52570559A	KRT74	NM_175053.4(KRT74):c.1008+110G>T	noncoding	Benign
12	52570618	C	A	C52570618A	KRT74	NM_175053.4(KRT74):c.1008+51G>T	noncoding	Benign
12	52570626	G	A	G52570626A	KRT74	NM_175053.4(KRT74):c.1008+43C>T	noncoding	Benign
12	52570633	A	G	A52570633G	KRT74	NM_175053.4(KRT74):c.1008+36T>C	noncoding	Benign
12	52570922	A	G	A52570922G	KRT74	NM_175053.4(KRT74):c.844-89T>C	noncoding	Benign
12	52570934	G	A	G52570934A	KRT74	NM_175053.4(KRT74):c.844-101C>T	noncoding	Benign
12	52571140	C	T	C52571140T	KRT74	NM_175053.4(KRT74):c.843+219G>A	noncoding	Benign
12	52571150	T	G	T52571150G	KRT74	NM_175053.4(KRT74):c.843+209A>C	noncoding	Benign
12	52571194	C	T	C52571194T	KRT74	NM_175053.4(KRT74):c.843+165G>A	noncoding	Benign
12	52571197	A	G	A52571197G	KRT74	NM_175053.4(KRT74):c.843+162T>C	noncoding	Benign
12	52571389	T	G	T52571389G	KRT74	NM_175053.4(KRT74):c.813A>C:p.Glu271Asp	coding	Benign
12	52571664	A	G	A52571664G	KRT74	NM_175053.4(KRT74):c.748-210T>C	noncoding	Benign
12	52571938	T	C	T52571938C	KRT74	NM_175053.4(KRT74):c.747+6A>G	noncoding	Benign
12	52571977	C	T	C52571977T	KRT74	NM_175053.4(KRT74):c.714G>A:p.Thr238=	coding	Benign
12	52571998	T	C	T52571998C	KRT74	NM_175053.4(KRT74):c.693A>G:p.Glu231=	coding	Benign
12	52572093	T	G	T52572093G	KRT74	NM_175053.4(KRT74):c.687-89A>C	noncoding	Benign
12	52572179	T	C	T52572179C	KRT74	NM_175053.4(KRT74):c.687-175A>G	noncoding	Benign
12	52572207	A	T	A52572207T	KRT74	NM_175053.4(KRT74):c.687-203T>A	noncoding	Benign
12	52572263	C	T	C52572263T	KRT74	NM_175053.4(KRT74):c.686+190G>A	noncoding	Benign
12	52572353	T	A	T52572353A	KRT74	NM_175053.4(KRT74):c.686+100A>T	noncoding	Benign
12	52572465	T	A	T52572465A	KRT74	NM_175053.4(KRT74):c.674A>T:p.Asp225Val	coding	Benign
12	52572584	C	T	C52572584T	KRT74	NM_175053.4(KRT74):c.555G>A:p.Lys185=	coding	Benign
12	52572606	A	T	A52572606T	KRT74	NM_175053.4(KRT74):c.533T>A:p.Leu178Gln	coding	Benign
12	52572644	G	C	G52572644C	KRT74	NM_175053.4(KRT74):c.495C>G:p.Asn165Lys	coding	Benign
12	52572653	C	T	C52572653T	KRT74	NM_175053.4(KRT74):c.486G>A:p.Glu162=	coding	Benign
12	52572728	C	A	C52572728A	KRT74	NM_175053.4(KRT74):c.472-61G>T	noncoding	Benign
12	52573115	A	G	A52573115G	KRT74	NM_175053.4(KRT74):c.471+192T>C	noncoding	Benign
12	52573213	A	G	A52573213G	KRT74	NM_175053.4(KRT74):c.471+94T>C	noncoding	Benign
12	52573296	A	G	A52573296G	KRT74	NM_175053.4(KRT74):c.471+11T>C	noncoding	Benign
12	52573333	C	T	C52573333T	KRT74	NM_175053.4(KRT74):c.445G>A:p.Asp149Asn	coding	Benign
12	52573490	A	G	A52573490G	KRT74	NM_175053.4(KRT74):c.288T>C:p.Ser96=	coding	Benign
12	52573652	G	A	G52573652A	KRT74	NM_175053.4(KRT74):c.126C>T:p.Gly42=	coding	Benign
12	52574076	A	G	A52574076G	KRT74	Single_allele	noncoding	Benign
12	52645753	C	T	C52645753T	KRT2	NM_000423.3(KRT2):c.1470-184G>A	noncoding	Benign
12	52646475	T	A	T52646475A	KRT2	NM_000423.3(KRT2):c.1469+265A>T	noncoding	Benign
12	52646627	T	C	T52646627C	KRT2	NM_000423.3(KRT2):c.1469+113A>G	noncoding	Benign
12	52647708	G	A	G52647708A	KRT2	NM_000423.3(KRT2):c.1248+22C>T	noncoding	Benign
12	52648157	C	T	C52648157T	KRT2	NM_000423.3(KRT2):c.1122+16G>A	noncoding	Benign
12	52648653	C	A	C52648653A	KRT2	NM_000423.3(KRT2):c.958-316G>T	noncoding	Benign
12	52648991	G	A	G52648991A	KRT2	NM_000423.3(KRT2):c.957+16C>T	noncoding	Benign
12	52649852	G	A	G52649852A	KRT2	NM_000423.3(KRT2):c.861+62C>T	noncoding	Benign
12	52649852	G	T	G52649852T	KRT2	NM_000423.3(KRT2):c.861+62C>A	noncoding	Benign
12	52650643	T	C	T52650643C	KRT2	NM_000423.3(KRT2):c.586-90A>G	noncoding	Benign
12	52650676	C	T	C52650676T	KRT2	NM_000423.3(KRT2):c.586-123G>A	noncoding	Benign
12	52651831	A	G	A52651831G	KRT2	NM_000423.3(KRT2):c.312T>C:p.Gly104=	coding	Benign
12	52651962	G	A	G52651962A	KRT2	NM_000423.3(KRT2):c.181C>T:p.Arg61Trp	coding	Benign
12	52652460	G	A	G52652460A	KRT2	Single_allele	noncoding	Benign
12	52676259	A	G	A52676259G	KRT1	NM_006121.4(KRT1):c.1475+16T>C	noncoding	Benign
12	52676317	T	C	T52676317C	KRT1	NM_006121.4(KRT1):c.1433A>G:p.Glu478Gly	coding	Pathogenic
12	52676337	T	G	T52676337G	KRT1	NM_006121.4(KRT1):c.1413A>C:p.Thr471=	coding	Benign
12	52677058	C	T	C52677058T	KRT1	NM_006121.4(KRT1):c.1254+1G>A	noncoding	Pathogenic
12	52677309	C	T	C52677309T	KRT1	NM_006121.4(KRT1):c.1128+7G>A	noncoding	Benign
12	52677554	A	G	A52677554G	KRT1	NM_006121.4(KRT1):c.964-74T>C	noncoding	Benign
12	52677598	A	C	A52677598C	KRT1	NM_006121.4(KRT1):c.963+52T>G	noncoding	Benign
12	52677776	A	G	A52677776G	KRT1	NM_006121.4(KRT1):c.868-31T>C	noncoding	Benign
12	52678898	T	C	T52678898C	KRT1	NM_006121.4(KRT1):c.592-142A>G	noncoding	Benign
12	52678903	T	C	T52678903C	KRT1	NM_006121.4(KRT1):c.592-147A>G	noncoding	Benign
12	52679756	A	T	A52679756T	KRT1	NM_006121.4(KRT1):c.591+2T>A	noncoding	Pathogenic
12	52792304	G	C	G52792304C	KRT3	NM_057088.3(KRT3):c.1123C>G:p.Arg375Gly	coding	Benign
12	52792338	G	A	G52792338A	KRT3	NM_057088.3(KRT3):c.1089C>T:p.Arg363=	coding	Benign
12	52795912	C	G	C52795912G	KRT3	NM_057088.3(KRT3):c.131G>C:p.Gly44Ala	coding	Benign
12	52807896	C	T	C52807896T	KRT4	NM_002272.4(KRT4):c.1126-32G>A	noncoding	Benign
12	52808596	T	C	T52808596C	KRT4	NM_002272.4(KRT4):c.999+90A>G	noncoding	Benign
12	52809075	G	A	G52809075A	KRT4	NM_002272.4(KRT4):c.835-225C>T	noncoding	Benign
12	52810740	A	C	A52810740C	KRT4	NM_002272.4(KRT4):c.738+16T>G	noncoding	Benign
12	52810973	T	C	T52810973C	KRT4	NM_002272.4(KRT4):c.678-157A>G	noncoding	Benign
12	52811659	C	T	C52811659T	KRT4	NM_002272.4(KRT4):c.677+104G>A	noncoding	Benign
12	52812255	G	A	G52812255A	KRT4	NM_002272.4(KRT4):c.463-278C>T	noncoding	Benign
12	52813537	C	T	C52813537T	KRT4	NM_002272.4(KRT4):c.462+60G>A	noncoding	Benign
12	52898859	C	T	C52898859T	KRT8	NM_002273.4(KRT8):c.1022G>A:p.Arg341His	coding	Benign
12	52904798	C	A	C52904798A	KRT8	NM_002273.4(KRT8):c.184G>T:p.Gly62Cys	coding	Benign
12	52904985	A	G	A52904985G	KRT8	NM_002273.4(KRT8):c.-4T>C	coding	Benign
12	52907235	C	T	C52907235T	KRT8	NM_001256282.2(KRT8):c.39-2208G>A	noncoding	Benign
12	52949441	C	T	C52949441T	KRT18	NM_000224.3(KRT18):c.268C>T:p.Arg90Cys	coding	Benign/Likely_benign
12	52949447	G	C	G52949447C	KRT18	NM_000224.3(KRT18):c.274G>C:p.Ala92Pro	coding	Benign/Likely_benign
12	52949473	C	G	C52949473G	KRT18	NM_000224.3(KRT18):c.300C>G:p.Ser100Arg	coding	Benign/Likely_benign
12	53049172	G	C	G53049172C	TNS2	NM_015319.2(TNS2):c.29G>C:p.Arg10Thr	coding	Benign
12	53052175	T	C	T53052175C	TNS2	NM_170754.4(TNS2):c.184+212T>C	noncoding	Benign
12	53054451	G	A	G53054451A	TNS2	NM_170754.4(TNS2):c.522+10G>A	noncoding	Benign
12	53054536	C	T	C53054536T	TNS2	NM_170754.4(TNS2):c.522+95C>T	noncoding	Benign
12	53055537	G	A	G53055537A	TNS2	NM_170754.4(TNS2):c.574-31G>A	noncoding	Benign
12	53055813	T	C	T53055813C	TNS2	NM_170754.4(TNS2):c.729T>C:p.Ser243=	coding	Benign
12	53055951	T	C	T53055951C	TNS2	NM_170754.4(TNS2):c.761+106T>C	noncoding	Benign
12	53058065	G	C	G53058065C	TNS2	NM_170754.4(TNS2):c.1058G>C:p.Ser353Thr	coding	Benign
12	53058168	C	T	C53058168T	TNS2	NM_170754.4(TNS2):c.1095+66C>T	noncoding	Benign
12	53058954	C	G	C53058954G	TNS2	NM_170754.4(TNS2):c.1406-93C>G	noncoding	Benign
12	53059649	G	A	G53059649A	TNS2	NM_170754.4(TNS2):c.2008G>A:p.Ala670Thr	coding	Benign
12	53059672	C	T	C53059672T	TNS2	NM_170754.4(TNS2):c.2031C>T:p.Val677=	coding	Benign
12	53060392	C	T	C53060392T	TNS2	NM_170754.4(TNS2):c.2618-13C>T	noncoding	Benign
12	53060409	G	A	G53060409A	TNS2	NM_170754.4(TNS2):c.2622G>A:p.Ser874=	coding	Benign
12	53060602	G	A	G53060602A	TNS2	NM_170754.4(TNS2):c.2768+47G>A	noncoding	Benign
12	53061325	C	T	C53061325T	TNS2	NM_170754.4(TNS2):c.3359-55C>T	noncoding	Benign
12	53061633	G	A	G53061633A	TNS2	NM_170754.4(TNS2):c.3448+164G>A	noncoding	Benign
12	53061795	C	T	C53061795T	TNS2	NM_170754.4(TNS2):c.3449-20C>T	noncoding	Benign
12	53062069	C	T	C53062069T	TNS2	NM_170754.4(TNS2):c.3575-84C>T	noncoding	Benign
12	53062096	G	A	G53062096A	TNS2	NM_170754.4(TNS2):c.3575-57G>A	noncoding	Benign
12	53062835	C	T	C53062835T	TNS2	NM_170754.4(TNS2):c.3823+138C>T	noncoding	Benign
12	53063436	C	G	C53063436G	TNS2	NM_170754.4(TNS2):c.4061+19C>G	noncoding	Benign
12	53063834	C	T	C53063834T	TNS2	NM_170754.4(TNS2):c.4182C>T:p.Gly1394=	coding	Benign
12	53063920	C	A	C53063920A	TNS2	NM_170754.4(TNS2):c.*38C>A	noncoding	Benign
12	53063955	G	A	G53063955A	TNS2	NM_170754.4(TNS2):c.*73G>A	noncoding	Benign
12	53211761	G	A	G53211761A	RARG	NM_000966.6(RARG):c.1280C>T:p.Ser427Leu	coding	Benign
12	53307709	C	T	C53307709T	AAAS	NM_015665.6(AAAS):c.1421G>A:p.Trp474Ter	coding	Pathogenic
12	53307895	G	A	G53307895A	AAAS	NM_015665.6(AAAS):c.1366C>T:p.Gln456Ter	coding	Pathogenic
12	53308587	T	C	T53308587C	AAAS	NM_015665.6(AAAS):c.1088-59A>G	noncoding	Benign
12	53308788	G	A	G53308788A	AAAS	NM_015665.6(AAAS):c.1024C>T:p.Arg342Ter	coding	Pathogenic
12	53308940	G	A	G53308940A	AAAS	NM_015665.6(AAAS):c.996+20C>T	noncoding	Benign
12	53309191	T	A	T53309191A	AAAS	NM_015665.6(AAAS):c.901A>T:p.Lys301Ter	coding	Pathogenic
12	53309205	G	T	G53309205T	AAAS	NM_015665.6(AAAS):c.887C>A:p.Ser296Tyr	coding	Pathogenic
12	53309208	C	T	C53309208T	AAAS	NM_015665.6(AAAS):c.884G>A:p.Trp295Ter	coding	Pathogenic
12	53309236	G	A	G53309236A	AAAS	NM_015665.6(AAAS):c.856C>T:p.Arg286Ter	coding	Pathogenic
12	53309240	C	T	C53309240T	AAAS	NM_015665.6(AAAS):c.852G>A:p.Trp284Ter	coding	Pathogenic
12	53309623	G	A	G53309623A	AAAS	NM_015665.6(AAAS):c.788C>T:p.Ser263Leu	coding	Pathogenic
12	53309702	G	A	G53309702A	AAAS	NM_015665.6(AAAS):c.709C>T:p.Gln237Ter	coding	Pathogenic
12	53314227	G	C	G53314227C	AAAS	NM_015665.6(AAAS):c.689+71C>G	noncoding	Benign
12	53314297	C	T	C53314297T	AAAS	NM_015665.6(AAAS):c.689+1G>A	noncoding	Pathogenic
12	53314385	C	T	C53314385T	AAAS	NM_015665.6(AAAS):c.602G>A:p.Trp201Ter	coding	Pathogenic
12	53314407	G	A	G53314407A	AAAS	NM_015665.6(AAAS):c.580C>T:p.Arg194Ter	coding	Pathogenic
12	53314410	G	A	G53314410A	AAAS	NM_015665.6(AAAS):c.577C>T:p.Gln193Ter	coding	Pathogenic
12	53314443	T	G	T53314443G	AAAS	NM_015665.6(AAAS):c.546-2A>C	noncoding	Pathogenic
12	53314653	T	C	T53314653C	AAAS	NM_015665.6(AAAS):c.545+98A>G	noncoding	Benign
12	53314796	G	A	G53314796A	AAAS	NM_015665.6(AAAS):c.500C>T:p.Ala167Val	coding	Pathogenic
12	53315093	C	T	C53315093T	AAAS	NM_015665.6(AAAS):c.446+1G>A	noncoding	Pathogenic
12	53315107	G	A	G53315107A	AAAS	NM_015665.6(AAAS):c.433C>T:p.Gln145Ter	coding	Pathogenic
12	53315126	A	G	A53315126G	AAAS	NM_015665.6(AAAS):c.414T>C:p.Asp138=	coding	Benign/Likely_benign
12	53315157	G	A	G53315157A	AAAS	NM_015665.6(AAAS):c.400-17C>T	noncoding	Benign
12	53315334	C	T	C53315334T	AAAS	NM_015665.6(AAAS):c.399+1G>A	noncoding	Pathogenic
12	53315379	G	A	G53315379A	AAAS	NM_015665.6(AAAS):c.355C>T:p.Arg119Ter	coding	Pathogenic
12	53315924	G	T	G53315924T	AAAS	NM_015665.6(AAAS):c.252-142C>A	noncoding	Benign
12	53320506	T	G	T53320506G	AAAS	NM_015665.6(AAAS):c.251+59A>C	noncoding	Benign
12	53320712	A	G	A53320712G	AAAS	NM_015665.6(AAAS):c.124-20T>C	noncoding	Benign
12	53320725	T	G	T53320725G	AAAS	NM_015665.6(AAAS):c.124-33A>C	noncoding	Benign
12	53321084	G	A	G53321084A	AAAS	NM_015665.6(AAAS):c.123+259C>T	noncoding	Benign
12	53321209	C	T	C53321209T	AAAS	NM_015665.6(AAAS):c.123+134G>A	noncoding	Benign
12	53321341	A	G	A53321341G	AAAS	NM_015665.6(AAAS):c.123+2T>C	noncoding	Pathogenic
12	53328449	G	A	G53328449A	SP7	NM_001173467.3(SP7):c.993C>T:p.Cys331=	coding	Benign
12	53328515	C	T	C53328515T	SP7	NM_001173467.3(SP7):c.927G>A:p.Ser309=	coding	Benign
12	53329437	G	A	G53329437A	SP7	NM_001173467.3(SP7):c.22-17C>T	noncoding	Benign
12	53335604	G	T	G53335604T	SP7	NM_001173467.3(SP7):c.21+22C>A	noncoding	Benign
12	53335707	T	G	T53335707G	SP7	NM_001173467.3(SP7):c.-47-14A>C	noncoding	Benign
12	53423937	G	A	G53423937A	AMHR2	NM_020547.3(AMHR2):c.3G>A:p.Met1Ile	coding	Pathogenic
12	53424132	T	A	T53424132A	AMHR2	NM_020547.3(AMHR2):c.49+149T>A	noncoding	Benign
12	53424172	C	A	C53424172A	AMHR2	NM_020547.3(AMHR2):c.50-116C>A	noncoding	Benign
12	53424302	C	T	C53424302T	AMHR2	NM_020547.3(AMHR2):c.64C>T:p.Arg22Ter	coding	Pathogenic
12	53424471	G	A	G53424471A	AMHR2	NM_020547.3(AMHR2):c.232+1G>A	coding	Pathogenic
12	53424503	A	G	A53424503G	AMHR2	NM_020547.3(AMHR2):c.232+33A>G	noncoding	Benign
12	53424714	C	T	C53424714T	AMHR2	NM_020547.3(AMHR2):c.238C>T:p.Arg80Ter	coding	Pathogenic
12	53425136	C	T	C53425136T	AMHR2	NM_020547.3(AMHR2):c.425-29C>T	noncoding	Benign
12	53425842	C	T	C53425842T	AMHR2	NM_020547.3(AMHR2):c.775C>T:p.Arg259Ter	coding	Pathogenic
12	53428886	G	A	G53428886A	AMHR2	NM_020547.3(AMHR2):c.853-10G>A	noncoding	Benign
12	53429100	G	A	G53429100A	AMHR2	NM_020547.3(AMHR2):c.967+90G>A	noncoding	Benign
12	53429208	T	C	T53429208C	AMHR2	NM_020547.3(AMHR2):c.967+198T>C	noncoding	Benign
12	53429523	G	A	G53429523A	AMHR2	NM_020547.3(AMHR2):c.1038G>A:p.Ser346=	coding	Benign
12	53429906	C	T	C53429906T	AMHR2	NM_020547.3(AMHR2):c.1216C>T:p.Arg406Ter	coding	Pathogenic
12	53430197	C	T	C53430197T	AMHR2	NM_020547.3(AMHR2):c.1340C>T:p.Thr447Ile	coding	Pathogenic
12	53430359	A	G	A53430359G	AMHR2	NM_020547.3(AMHR2):c.1425+77A>G	noncoding	Benign
12	53430624	C	T	C53430624T	AMHR2	NM_020547.3(AMHR2):c.1425+342C>T	noncoding	Benign
12	53430960	A	G	A53430960G	AMHR2	NM_020547.3(AMHR2):c.1426-217A>G	noncoding	Benign
12	53431541	T	C	T53431541C	AMHR2	NM_020547.3(AMHR2):c.*68T>C	noncoding	Benign
12	53939187	C	A	C53939187A	HOXC13	NM_017410.3(HOXC13):c.281C>A:p.Thr94Lys	coding	Benign
12	53945268	C	A	C53945268A	HOXC13	NM_017410.3(HOXC13):c.*12C>A	noncoding	Benign
12	54280451	A	G	A54280451G	HNRNPA1	Single_allele	noncoding	Benign
12	54281329	G	A	G54281329A	HNRNPA1	NM_031157.4(HNRNPA1):c.16-57G>A	noncoding	Benign
12	54282964	A	G	A54282964G	HNRNPA1	NM_031157.4(HNRNPA1):c.751+90A>G	noncoding	Benign
12	54284196	C	T	C54284196T	HNRNPA1	NM_031157.4(HNRNPA1):c.1064-62C>T	noncoding	Benign
12	54401626	A	G	A54401626G	ITGA5	NM_002205.5(ITGA5):c.2346T>C:p.Phe782=	coding	Benign
12	54508410	C	T	C54508410T	NCKAP1L	NM_005337.5(NCKAP1L):c.385C>T:p.Arg129Trp	coding	Pathogenic
12	55682131	C	A	C55682131A	METTL7B	NM_152637.3(METTL7B):c.377C>A:p.Pro126His	coding	Benign
12	55688784	A	G	A55688784G	ITGA7	NM_002206.3(ITGA7):c.2958+60T>C	noncoding	Benign
12	55692951	G	A	G55692951A	ITGA7	NM_002206.3(ITGA7):c.2737C>T:p.Arg913Trp	coding	Benign/Likely_benign
12	55693139	A	G	A55693139G	ITGA7	NM_002206.3(ITGA7):c.2712+2T>C	noncoding	Pathogenic
12	55694287	C	T	C55694287T	ITGA7	NM_002206.3(ITGA7):c.2401G>A:p.Val801Ile	coding	Benign
12	55694876	G	A	G55694876A	ITGA7	NM_002206.3(ITGA7):c.2098C>T:p.Gln700Ter	coding	Pathogenic
12	55695389	G	A	G55695389A	ITGA7	NM_002206.3(ITGA7):c.2003+133C>T	noncoding	Benign
12	55695792	G	C	G55695792C	ITGA7	NM_002206.3(ITGA7):c.1888-155C>G	noncoding	Benign
12	55696883	A	C	A55696883C	ITGA7	NM_002206.3(ITGA7):c.1737+16T>G	noncoding	Benign
12	55696931	G	A	G55696931A	ITGA7	NM_002206.3(ITGA7):c.1705C>T:p.Arg569Ter	coding	Pathogenic
12	55697086	A	G	A55697086G	ITGA7	NM_002206.3(ITGA7):c.1568-18T>C	noncoding	Benign/Likely_benign
12	55697291	G	A	G55697291A	ITGA7	NM_002206.3(ITGA7):c.1506-14C>T	noncoding	Benign/Likely_benign
12	55697356	C	T	C55697356T	ITGA7	NM_002206.3(ITGA7):c.1506-79G>A	noncoding	Benign
12	55699883	G	A	G55699883A	ITGA7	NM_002206.3(ITGA7):c.777C>T:p.Leu259_Asn260=	coding	Benign
12	55701011	T	C	T55701011C	ITGA7	NM_002206.3(ITGA7):c.558A>G:p.Gly186_Arg187=	coding	Benign/Likely_benign
12	55701124	G	A	G55701124A	ITGA7	NM_002206.3(ITGA7):c.445C>T:p.Arg149Ter	coding	Pathogenic
12	55701563	G	A	G55701563A	ITGA7	NM_002206.3(ITGA7):c.415-409C>T	noncoding	Benign
12	55703138	G	A	G55703138A	ITGA7	NM_002206.3(ITGA7):c.247C>T:p.Gln83Ter	coding	Pathogenic
12	55707332	G	A	G55707332A	ITGA7	NM_002206.3(ITGA7):c.206+145C>T	noncoding	Benign
12	55707496	G	A	G55707496A	ITGA7	NM_002206.3(ITGA7):c.187C>T:p.Gln63Ter	coding	Pathogenic
12	55712110	G	A	G55712110A	ITGA7	NM_001144997.2(ITGA7):c.38C>T:p.Thr13Ile	coding	Benign/Likely_benign
12	55712282	A	G	A55712282G	ITGA7	NM_001144997.2(ITGA7):c.-13T>C	noncoding	Benign
12	55712528	G	A	G55712528A	ITGA7	Single_allele	noncoding	Benign
12	55720985	G	C	G55720985C	RDH5	NM_002905.5(RDH5):c.-32-168G>C	noncoding	Benign
12	55721408	G	A	G55721408A	RDH5	NM_002905.5(RDH5):c.224G>A:p.Arg75His	coding	Benign/Likely_benign
12	55721468	G	A	G55721468A	RDH5	NM_002905.5(RDH5):c.284G>A:p.Trp95Ter	coding	Pathogenic
12	55721744	A	G	A55721744G	RDH5	NM_002905.5(RDH5):c.366A>G:p.Pro122=	coding	Benign
12	55721914	A	G	A55721914G	RDH5	NM_002905.5(RDH5):c.536A>G:p.Lys179Arg	coding	Pathogenic
12	55721994	C	A	C55721994A	RDH5	NM_002905.5(RDH5):c.569+47C>A	noncoding	Benign
12	55722001	C	T	C55722001T	RDH5	NM_002905.5(RDH5):c.569+54C>T	noncoding	Benign
12	55722099	T	C	T55722099C	RDH5	NM_002905.5(RDH5):c.569+152T>C	noncoding	Benign
12	55723786	C	T	C55723786T	RDH5	NM_002905.5(RDH5):c.570-100C>T	noncoding	Benign
12	55723868	G	A	G55723868A	RDH5	NM_002905.5(RDH5):c.570-18G>A	noncoding	Benign
12	55749551	G	A	G55749551A	GDF11	NM_005811.5(GDF11):c.893G>A:p.Arg298Gln	coding	Pathogenic/Likely_pathogenic
12	55842747	A	G	A55842747G	MMP19	NM_002429.6(MMP19):c.84T>C:p.Pro28=	coding	Benign
12	56041628	G	A	G56041628A	RPS26	Single_allele	noncoding	Benign
12	56042327	C	G	C56042327G	RPS26	NM_001029.5(RPS26):c.4-98C>G	noncoding	Benign
12	56042688	T	G	T56042688G	RPS26	NM_001029.5(RPS26):c.181+86T>G	noncoding	Benign
12	56043520	G	T	G56043520T	RPS26	NM_001029.5(RPS26):c.312+27G>T	noncoding	Benign
12	56043521	C	T	C56043521T	RPS26	NM_001029.5(RPS26):c.312+28C>T	noncoding	Benign
12	56079996	G	A	G56079996A	ERBB3	Single_allele	noncoding	Benign
12	56080024	T	C	T56080024C	ERBB3	Single_allele	noncoding	Benign
12	56080106	T	A	T56080106A	ERBB3	Single_allele	noncoding	Benign
12	56080595	T	C	T56080595C	ERBB3	NM_001982.4(ERBB3):c.82+213T>C	noncoding	Benign
12	56083705	G	T	G56083705T	ERBB3	NM_001982.4(ERBB3):c.83-46G>T	noncoding	Benign
12	56083910	A	T	A56083910T	ERBB3	NM_001982.4(ERBB3):c.234+8A>T	noncoding	Benign
12	56084218	A	C	A56084218C	ERBB3	NM_001982.4(ERBB3):c.234+316A>C	noncoding	Benign
12	56084823	G	A	G56084823A	ERBB3	NM_001982.4(ERBB3):c.235-172G>A	noncoding	Benign
12	56084830	A	G	A56084830G	ERBB3	NM_001982.4(ERBB3):c.235-165A>G	noncoding	Benign
12	56084874	A	C	A56084874C	ERBB3	NM_001982.4(ERBB3):c.235-121A>C	noncoding	Benign
12	56084898	A	G	A56084898G	ERBB3	NM_001982.4(ERBB3):c.235-97A>G	noncoding	Benign
12	56086690	C	A	C56086690A	ERBB3	NM_001982.4(ERBB3):c.547+34C>A	noncoding	Benign
12	56086799	G	A	G56086799A	ERBB3	NM_001982.4(ERBB3):c.547+143G>A	noncoding	Benign
12	56088396	T	G	T56088396G	ERBB3	NM_001982.4(ERBB3):c.875-147T>G	noncoding	Benign
12	56089075	G	A	G56089075A	ERBB3	NM_001982.4(ERBB3):c.1109+207G>A	noncoding	Benign
12	56092977	A	G	A56092977G	ERBB3	NM_001982.4(ERBB3):c.1184-9A>G	noncoding	Pathogenic
12	56093417	T	C	T56093417C	ERBB3	NM_001982.4(ERBB3):c.1347T>C:p.Ile449=	coding	Benign
12	56095129	G	A	G56095129A	ERBB3	NM_001982.4(ERBB3):c.1860-128G>A	noncoding	Benign
12	56097956	G	C	G56097956C	ERBB3	NM_001982.4(ERBB3):c.2616+16G>C	noncoding	Benign/Likely_benign
12	56098096	T	G	T56098096G	ERBB3	NM_001982.4(ERBB3):c.2616+156T>G	noncoding	Benign
12	56098201	A	G	A56098201G	ERBB3	NM_001982.4(ERBB3):c.2616+261A>G	noncoding	Benign
12	56100038	A	C	A56100038C	ERBB3	NM_001982.4(ERBB3):c.3129+9A>C	noncoding	Benign
12	56101207	G	A	G56101207A	ERBB3	NM_001982.4(ERBB3):c.3348G>A:p.Arg1116=	coding	Benign
12	56101214	A	T	A56101214T	ERBB3	NM_001982.4(ERBB3):c.3355A>T:p.Ser1119Cys	coding	Benign
12	56101378	A	C	A56101378C	ERBB3	NM_001982.4(ERBB3):c.3502+17A>C	noncoding	Benign
12	56101522	C	T	C56101522T	ERBB3	NM_001982.4(ERBB3):c.3503-7C>T	noncoding	Benign
12	56163804	G	A	G56163804A	SMARCC2	NM_001330288.2(SMARCC2):c.3662-39C>T	noncoding	Benign
12	56164613	C	T	C56164613T	SMARCC2	NM_001330288.2(SMARCC2):c.3351G>A:p.Pro1117_Pro1118=	coding	Benign
12	56169562	G	A	G56169562A	SMARCC2	NM_001330288.2(SMARCC2):c.2682C>T:p.Ala894=	coding	Benign
12	56171556	T	C	T56171556C	SMARCC2	NM_001330288.2(SMARCC2):c.2185+123A>G	noncoding	Benign
12	56171608	T	G	T56171608G	SMARCC2	NM_001330288.2(SMARCC2):c.2185+71A>C	noncoding	Benign
12	56172435	A	G	A56172435G	SMARCC2	NM_001330288.2(SMARCC2):c.1919T>C:p.Leu640Pro	coding	Pathogenic
12	56178170	G	C	G56178170C	SMARCC2	NM_001330288.2(SMARCC2):c.1311-77C>G	noncoding	Benign
12	56178831	T	C	T56178831C	SMARCC2	NM_001330288.2(SMARCC2):c.1158A>G:p.Glu386=	coding	Benign
12	56181404	G	A	G56181404A	SMARCC2	NM_001330288.2(SMARCC2):c.956+78C>T	noncoding	Benign
12	56181481	C	A	C56181481A	SMARCC2	NM_001330288.2(SMARCC2):c.956+1G>T	noncoding	Pathogenic
12	56181739	G	A	G56181739A	SMARCC2	NM_001330288.2(SMARCC2):c.805C>T:p.Arg269Ter	coding	Pathogenic/Likely_pathogenic
12	56181958	T	G	T56181958G	SMARCC2	NM_001330288.2(SMARCC2):c.708+46A>C	noncoding	Benign
12	56184898	T	C	T56184898C	SMARCC2	NM_001330288.2(SMARCC2):c.438A>G:p.Pro146=	coding	Benign
12	56189702	A	G	A56189702G	SMARCC2	Single_allele	noncoding	Benign
12	56207453	A	G	A56207453G	RNF41	NM_005785.4(RNF41):c.602+193T>C	noncoding	Benign
12	56207955	G	T	G56207955T	RNF41	NM_005785.4(RNF41):c.499-206C>A	noncoding	Benign
12	56210689	C	T	C56210689T	RNF41	NM_005785.4(RNF41):c.91-121G>A	noncoding	Benign
12	56210705	T	C	T56210705C	RNF41	NM_005785.4(RNF41):c.91-137A>G	noncoding	Benign
12	56214143	C	T	C56214143T	RNF41	NM_005785.4(RNF41):c.-23-73G>A	noncoding	Benign
12	56231261	T	C	T56231261C	SLC39A5	NM_173596.3(SLC39A5):c.-14T>C	noncoding	Benign
12	56235686	C	T	C56235686T	SLC39A5	NM_173596.3(SLC39A5):c.931C>T:p.Arg311Ter	coding	Pathogenic
12	56236660	G	C	G56236660C	SLC39A5	NM_173596.3(SLC39A5):c.1121G>C:p.Ser374Thr	coding	Benign
12	56346828	G	A	G56346828A	STAT2	NM_005419.4(STAT2):c.1852C>T:p.Gln618Ter	coding	Pathogenic
12	56348972	G	A	G56348972A	STAT2	NM_005419.4(STAT2):c.1528C>T:p.Arg510Ter	coding	Pathogenic
12	56349583	T	C	T56349583C	STAT2	NM_005419.4(STAT2):c.1257+6A>G	noncoding	Benign
12	56351413	G	A	G56351413A	STAT2	NM_005419.4(STAT2):c.820C>T:p.Gln274Ter	coding	Pathogenic
12	56354581	G	A	G56354581A	STAT2	NM_005419.4(STAT2):c.667C>T:p.Arg223Ter	coding	Pathogenic
12	56356121	G	T	G56356121T	STAT2	NM_005419.4(STAT2):c.285+11C>A	noncoding	Benign
12	56356448	G	A	G56356448A	STAT2	NM_005419.4(STAT2):c.124C>T:p.Gln42Ter	coding	Pathogenic
12	56418347	G	A	G56418347A	TIMELESS	NM_003920.5(TIMELESS):c.3241C>T:p.Arg1081Ter	coding	Pathogenic
12	56451457	C	T	C56451457T	MIP	NM_012064.4(MIP):c.615G>A:p.Trp205Ter	coding	Pathogenic
12	56451512	T	C	T56451512C	MIP	NM_012064.4(MIP):c.607-47A>G	noncoding	Benign
12	56451519	G	A	G56451519A	MIP	NM_012064.4(MIP):c.607-54C>T	noncoding	Benign
12	56451574	T	C	T56451574C	MIP	NM_012064.4(MIP):c.607-109A>G	noncoding	Benign
12	56451617	C	T	C56451617T	MIP	NM_012064.4(MIP):c.607-152G>A	noncoding	Benign
12	56451694	T	G	T56451694G	MIP	NM_012064.4(MIP):c.607-229A>C	noncoding	Benign
12	56453071	C	G	C56453071G	MIP	NM_012064.4(MIP):c.606+1G>C	noncoding	Pathogenic
12	56454697	T	C	T56454697C	MIP	Single_allele	noncoding	Benign
12	56642528	A	G	A56642528G	ATP5F1B	NM_001686.4(ATP5F1B):c.1004T>C:p.Leu335Pro	coding	Pathogenic
12	56720316	A	G	A56720316G	NACA	NM_001365896.1(NACA):c.1214T>C:p.Phe405Ser	coding	Benign
12	56752285	T	G	T56752285G	PRIM1	NM_000946.3(PRIM1):c.14A>C:p.Asp5Ala	coding	Benign
12	56929739	A	G	A56929739G	SDR9C7	NM_148897.3(SDR9C7):c.561-186T>C	noncoding	Benign
12	56930258	C	T	C56930258T	SDR9C7	NM_148897.3(SDR9C7):c.528G>A:p.Lys176=	coding	Benign
12	56930294	A	G	A56930294G	SDR9C7	NM_148897.3(SDR9C7):c.492T>C:p.Arg164=	coding	Benign
12	56934207	G	C	G56934207C	SDR9C7	NM_148897.3(SDR9C7):c.55C>G:p.Leu19Val	coding	Benign/Likely_benign
12	57010271	G	A	G57010271A	TAC3	NM_013251.4(TAC3):c.*19C>T	noncoding	Benign
12	57016407	G	A	G57016407A	TAC3	NM_013251.4(TAC3):c.-26C>T	noncoding	Benign
12	57028944	A	T	A57028944T	MYO1A	NM_005379.4(MYO1A):c.3006-63T>A	noncoding	Benign
12	57029413	T	C	T57029413C	MYO1A	NM_005379.4(MYO1A):c.2877+22A>G	noncoding	Benign
12	57029930	C	G	C57029930G	MYO1A	NM_005379.4(MYO1A):c.2592-58G>C	noncoding	Benign
12	57030064	T	C	T57030064C	MYO1A	NM_005379.4(MYO1A):c.2591+146A>G	noncoding	Benign
12	57030361	G	T	G57030361T	MYO1A	NM_005379.4(MYO1A):c.2485-45C>A	noncoding	Benign
12	57031362	C	T	C57031362T	MYO1A	NM_005379.4(MYO1A):c.2350-188G>A	noncoding	Benign
12	57036191	T	C	T57036191C	MYO1A	NM_005379.4(MYO1A):c.2349+116A>G	noncoding	Benign
12	57036537	C	T	C57036537T	MYO1A	NM_005379.4(MYO1A):c.2275-156G>A	noncoding	Benign
12	57036651	C	G	C57036651G	MYO1A	NM_005379.4(MYO1A):c.2274+121G>C	noncoding	Benign
12	57036808	G	C	G57036808C	MYO1A	NM_005379.4(MYO1A):c.2238C>G:p.Ser746=	coding	Benign/Likely_benign
12	57038233	C	T	C57038233T	MYO1A	NM_005379.4(MYO1A):c.1761-164G>A	noncoding	Benign
12	57041338	G	A	G57041338A	MYO1A	NM_005379.4(MYO1A):c.1165-50C>T	noncoding	Benign
12	57042961	C	T	C57042961T	MYO1A	NM_005379.4(MYO1A):c.1098+111G>A	noncoding	Benign
12	57048355	A	G	A57048355G	MYO1A	NM_005379.4(MYO1A):c.-20-12T>C	noncoding	Benign
12	57048397	A	G	A57048397G	MYO1A	NM_005379.4(MYO1A):c.-20-54T>C	noncoding	Benign
12	57128474	C	G	C57128474G	LRP1	Single_allele	noncoding	Benign
12	57138168	C	T	C57138168T	LRP1	NM_002332.3(LRP1):c.68-291C>T	noncoding	Benign
12	57138780	G	A	G57138780A	LRP1	NM_002332.3(LRP1):c.190+199G>A	noncoding	Benign
12	57141129	G	A	G57141129A	LRP1	NM_002332.3(LRP1):c.191-245G>A	noncoding	Benign
12	57141483	C	T	C57141483T	LRP1	NM_002332.3(LRP1):c.300C>T:p.Asp100=	coding	Benign
12	57154683	C	T	C57154683T	LRP1	NM_002332.3(LRP1):c.1209C>T:p.Thr403=	coding	Benign
12	57161245	G	A	G57161245A	LRP1	NM_002332.3(LRP1):c.2202+130G>A	noncoding	Benign
12	57162030	C	T	C57162030T	LRP1	NM_002332.3(LRP1):c.2203-287C>T	noncoding	Benign
12	57166026	G	A	G57166026A	LRP1	NM_002332.3(LRP1):c.2672-58G>A	noncoding	Benign
12	57167596	G	T	G57167596T	LRP1	NM_002332.3(LRP1):c.2995+72G>T	noncoding	Benign
12	57167668	C	T	C57167668T	LRP1	NM_002332.3(LRP1):c.2995+144C>T	noncoding	Benign
12	57173397	G	T	G57173397T	LRP1	NM_002332.3(LRP1):c.3346+47G>T	noncoding	Benign
12	57173979	C	T	C57173979T	LRP1	NM_002332.3(LRP1):c.3546C>T:p.Cys1182=	coding	Benign
12	57175331	G	A	G57175331A	LRP1	NM_002332.3(LRP1):c.3548-129G>A	noncoding	Benign
12	57175695	C	T	C57175695T	LRP1	NM_002332.3(LRP1):c.3783C>T:p.Cys1261=	coding	Benign
12	57175730	G	A	G57175730A	LRP1	NM_002332.3(LRP1):c.3793+25G>A	noncoding	Benign
12	57176231	C	A	C57176231A	LRP1	NM_002332.3(LRP1):c.3991+125C>A	noncoding	Benign
12	57176810	G	A	G57176810A	LRP1	NM_002332.3(LRP1):c.3992-231G>A	noncoding	Benign
12	57184505	C	T	C57184505T	LRP1	NM_002332.3(LRP1):c.6186+53C>T	noncoding	Benign
12	57184890	G	A	G57184890A	LRP1	NM_002332.3(LRP1):c.6238G>A:p.Asp2080Asn	coding	Benign
12	57185394	A	G	A57185394G	LRP1	NM_002332.3(LRP1):c.6464-137A>G	noncoding	Benign
12	57185944	A	T	A57185944T	LRP1	NM_002332.3(LRP1):c.6841+36A>T	noncoding	Benign
12	57187245	C	G	C57187245G	LRP1	NM_002332.3(LRP1):c.6842-22C>G	noncoding	Benign
12	57191361	C	T	C57191361T	LRP1	NM_002332.3(LRP1):c.7278C>T:p.Ala2426=	coding	Benign
12	57194056	C	T	C57194056T	LRP1	NM_002332.3(LRP1):c.7918+44C>T	noncoding	Benign
12	57194266	A	G	A57194266G	LRP1	NM_002332.3(LRP1):c.7919-88A>G	noncoding	Benign
12	57194344	C	T	C57194344T	LRP1	NM_002332.3(LRP1):c.7919-10C>T	noncoding	Benign
12	57194650	G	A	G57194650A	LRP1	NM_002332.3(LRP1):c.8142G>A:p.Thr2714=	coding	Benign
12	57194708	C	T	C57194708T	LRP1	NM_002332.3(LRP1):c.8191+9C>T	noncoding	Benign
12	57195876	C	T	C57195876T	LRP1	NM_002332.3(LRP1):c.8574C>T:p.Cys2858=	coding	Benign
12	57196001	A	C	A57196001C	LRP1	NM_002332.3(LRP1):c.8699A>C:p.Gln2900Pro	coding	Benign
12	57196082	C	T	C57196082T	LRP1	NM_002332.3(LRP1):c.8702-5C>T	noncoding	Benign
12	57196952	T	C	T57196952C	LRP1	NM_002332.3(LRP1):c.8893-30T>C	noncoding	Benign
12	57196975	C	T	C57196975T	LRP1	NM_002332.3(LRP1):c.8893-7C>T	noncoding	Benign
12	57197014	C	T	C57197014T	LRP1	NM_002332.3(LRP1):c.8925C>T:p.Asp2975=	coding	Benign
12	57197086	T	C	T57197086C	LRP1	NM_002332.3(LRP1):c.8997T>C:p.Thr2999=	coding	Benign
12	57197443	T	C	T57197443C	LRP1	NM_002332.3(LRP1):c.9162+59T>C	noncoding	Benign
12	57197675	C	T	C57197675T	LRP1	NM_002332.3(LRP1):c.9282+11C>T	noncoding	Benign
12	57199318	G	A	G57199318A	LRP1	NM_002332.3(LRP1):c.9783G>A:p.Thr3261=	coding	Benign
12	57199421	A	G	A57199421G	LRP1	NM_002332.3(LRP1):c.9865+21A>G	noncoding	Benign
12	57200111	A	G	A57200111G	LRP1	NM_002332.3(LRP1):c.10014+86A>G	noncoding	Benign
12	57201283	G	A	G57201283A	LRP1	NM_002332.3(LRP1):c.10345+130G>A	noncoding	Benign
12	57201650	C	T	C57201650T	LRP1	NM_002332.3(LRP1):c.10468+31C>T	noncoding	Benign
12	57202201	C	T	C57202201T	LRP1	NM_002332.3(LRP1):c.10595-220C>T	noncoding	Benign
12	57202269	A	G	A57202269G	LRP1	NM_002332.3(LRP1):c.10595-152A>G	noncoding	Benign
12	57204088	G	A	G57204088A	LRP1	NM_002332.3(LRP1):c.10952-322G>A	noncoding	Benign
12	57204135	C	T	C57204135T	LRP1	NM_002332.3(LRP1):c.10952-275C>T	noncoding	Benign
12	57206198	C	A	C57206198A	LRP1	NM_002332.3(LRP1):c.11591-275C>A	noncoding	Benign
12	57209494	C	A	C57209494A	LRP1	NM_002332.3(LRP1):c.12263-198C>A	noncoding	Benign
12	57209634	A	G	A57209634G	LRP1	NM_002332.3(LRP1):c.12263-58A>G	noncoding	Benign
12	57211019	A	G	A57211019G	LRP1	NM_002332.3(LRP1):c.12916+140A>G	noncoding	Benign
12	57211385	T	C	T57211385C	LRP1	NM_002332.3(LRP1):c.13091+35T>C	noncoding	Benign
12	57212276	G	A	G57212276A	LRP1	NM_002332.3(LRP1):c.13494+15G>A	noncoding	Benign
12	57229580	A	G	A57229580G	SHMT2	Single_allele	noncoding	Benign
12	57229736	G	A	G57229736A	SHMT2	NM_005412.6(SHMT2):c.-43G>A	noncoding	Benign
12	57230918	C	T	C57230918T	SHMT2	NM_005412.6(SHMT2):c.149C>T:p.Ser50Leu	coding	Benign
12	57231870	C	T	C57231870T	SHMT2	NM_005412.6(SHMT2):c.469C>T:p.Pro157Ser	coding	Pathogenic
12	57232167	G	A	G57232167A	SHMT2	NM_005412.6(SHMT2):c.513-44G>A	noncoding	Benign
12	57232235	C	T	C57232235T	SHMT2	NM_005412.6(SHMT2):c.537C>T:p.Asp179=	coding	Benign
12	57233291	G	T	G57233291T	SHMT2	NM_005412.6(SHMT2):c.969G>T:p.Leu323=	coding	Benign
12	57233892	G	A	G57233892A	SHMT2	NM_005412.6(SHMT2):c.1267G>A:p.Gly423Ser	coding	Pathogenic
12	57233934	G	A	G57233934A	SHMT2	NM_005412.6(SHMT2):c.1279+30G>A	noncoding	Benign
12	57234027	A	C	A57234027C	SHMT2	NM_005412.6(SHMT2):c.1304A>C:p.Gln435Pro	coding	Pathogenic
12	57234341	C	G	C57234341G	SHMT2	NM_005412.6(SHMT2):c.1495C>G:p.Pro499Ala	coding	Pathogenic
12	57243934	T	C	T57243934C	STAC3	NM_145064.3(STAC3):c.997-24A>G	noncoding	Benign
12	57244222	T	A	T57244222A	STAC3	NM_145064.3(STAC3):c.862A>T:p.Lys288Ter	coding	Pathogenic/Likely_pathogenic
12	57244604	G	A	G57244604A	STAC3	NM_145064.3(STAC3):c.739C>T:p.Gln247Ter	coding	Pathogenic
12	57247024	C	T	C57247024T	STAC3	NM_145064.3(STAC3):c.506-123G>A	noncoding	Benign
12	57449928	G	A	G57449928A	INHBC	NM_005538.4(INHBC):c.965G>A:p.Arg322Gln	coding	Benign
12	57465648	G	A	G57465648A	GLI1	NM_005269.3(GLI1):c.576G>A:p.Glu192=	coding	Benign
12	57471538	G	A	G57471538A	GLI1	NM_005269.3(GLI1):c.2798G>A:p.Gly933Asp	coding	Benign
12	57472038	G	C	G57472038C	GLI1	NM_005269.3(GLI1):c.3298G>C:p.Glu1100Gln	coding	Benign
12	57488217	G	C	G57488217C	MARS1	NM_004990.4(MARS1):c.109+18G>C	noncoding	Benign/Likely_benign
12	57488311	A	G	A57488311G	MARS1	NM_004990.4(MARS1):c.109+112A>G	noncoding	Benign
12	57488993	T	A	T57488993A	MARS1	NM_004990.4(MARS1):c.110-26T>A	noncoding	Benign
12	57489406	A	G	A57489406G	MARS1	NM_004990.4(MARS1):c.280-18A>G	noncoding	Benign/Likely_benign
12	57489985	A	G	A57489985G	MARS1	NM_004990.4(MARS1):c.490+14A>G	noncoding	Benign/Likely_benign
12	57489991	C	T	C57489991T	MARS1	NM_004990.4(MARS1):c.490+20C>T	noncoding	Benign
12	57490018	G	A	G57490018A	MARS1	NM_004990.4(MARS1):c.490+47G>A	noncoding	Benign
12	57498021	T	C	T57498021C	MARS1	NM_004990.4(MARS1):c.771-136T>C	noncoding	Benign
12	57498290	G	C	G57498290C	MARS1	NM_004990.4(MARS1):c.887+17G>C	noncoding	Benign/Likely_benign
12	57511629	A	G	A57511629G	MARS1	NM_004990.4(MARS1):c.1369-69A>G	noncoding	Benign
12	57511687	C	T	C57511687T	MARS1	NM_004990.4(MARS1):c.1369-11C>T	noncoding	Benign/Likely_benign
12	57511904	A	G	A57511904G	MARS1	NM_004990.4(MARS1):c.1539+36A>G	noncoding	Benign
12	57514966	C	T	C57514966T	MARS1	NM_004990.4(MARS1):c.2112C>T:p.Ala704=	coding	Benign/Likely_benign
12	57516423	C	G	C57516423G	MARS1	NM_004990.4(MARS1):c.2557-12C>G	noncoding	Benign/Likely_benign
12	57549736	C	T	C57549736T	KIF5A	Single_allele	noncoding	Benign
12	57563938	G	A	G57563938A	KIF5A	NM_004984.4(KIF5A):c.292-170G>A	noncoding	Benign
12	57564211	A	G	A57564211G	KIF5A	NM_004984.4(KIF5A):c.395A>G:p.Lys132Arg	coding	Pathogenic
12	57564581	A	G	A57564581G	KIF5A	NM_004984.4(KIF5A):c.445+73A>G	noncoding	Benign
12	57567508	A	G	A57567508G	KIF5A	NM_004984.4(KIF5A):c.604A>G:p.Ser202Gly	coding	Pathogenic
12	57567509	G	A	G57567509A	KIF5A	NM_004984.4(KIF5A):c.605G>A:p.Ser202Asn	coding	Pathogenic
12	57568943	A	G	A57568943G	KIF5A	NM_004984.4(KIF5A):c.715-20A>G	noncoding	Benign
12	57568976	G	A	G57568976A	KIF5A	NM_004984.4(KIF5A):c.728G>A:p.Gly243Glu	coding	Pathogenic
12	57569013	C	G	C57569013G	KIF5A	NM_004984.4(KIF5A):c.765C>G:p.Ile255Met	coding	Pathogenic
12	57569161	G	C	G57569161C	KIF5A	NM_004984.4(KIF5A):c.819+94G>C	noncoding	Benign
12	57569269	C	T	C57569269T	KIF5A	NM_004984.4(KIF5A):c.833C>T:p.Pro278Leu	coding	Pathogenic/Likely_pathogenic
12	57569290	C	T	C57569290T	KIF5A	NM_004984.4(KIF5A):c.854C>T:p.Thr285Ile	coding	Pathogenic
12	57569325	C	T	C57569325T	KIF5A	NM_004984.4(KIF5A):c.889C>T:p.Arg297Trp	coding	Pathogenic
12	57570150	G	A	G57570150A	KIF5A	NM_004984.4(KIF5A):c.1281G>A:p.Gln427=	coding	Benign
12	57571311	C	A	C57571311A	KIF5A	NM_004984.4(KIF5A):c.1294-10C>A	noncoding	Benign
12	57572066	G	A	G57572066A	KIF5A	NM_004984.4(KIF5A):c.1368G>A:p.Leu456=	coding	Benign
12	57575225	G	T	G57575225T	KIF5A	NM_004984.4(KIF5A):c.1858G>T:p.Glu620Ter	coding	Pathogenic
12	57575771	A	G	A57575771G	KIF5A	NM_004984.4(KIF5A):c.2023+14A>G	noncoding	Benign
12	57576172	G	A	G57576172A	KIF5A	NM_004984.4(KIF5A):c.2088+21G>A	noncoding	Benign
12	57578099	G	A	G57578099A	KIF5A	NM_004984.4(KIF5A):c.2433+19G>A	noncoding	Benign
12	57582590	T	C	T57582590C	KIF5A	NM_004984.4(KIF5A):c.2993-12T>C	noncoding	Benign
12	57582630	G	C	G57582630C	KIF5A	NM_004984.4(KIF5A):c.3020+1G>C	coding	Pathogenic
12	57584602	C	T	C57584602T	KIF5A	NM_004984.4(KIF5A):c.*421C>T	noncoding	Benign
12	57626577	A	G	A57626577G	B4GALNT1	NM_001478.5(B4GALNT1):c.*167T>C	noncoding	Benign
12	57626832	C	T	C57626832T	B4GALNT1	NM_001478.5(B4GALNT1):c.1514G>A:p.Arg505His	coding	Pathogenic
12	57626833	G	A	G57626833A	B4GALNT1	NM_001478.5(B4GALNT1):c.1513C>T:p.Arg505Cys	coding	Pathogenic
12	57626931	C	G	C57626931G	B4GALNT1	NM_001478.5(B4GALNT1):c.1415G>C:p.Arg472Pro	coding	Pathogenic
12	57627150	G	A	G57627150A	B4GALNT1	NM_001478.5(B4GALNT1):c.1385-189C>T	noncoding	Benign
12	57627308	G	C	G57627308C	B4GALNT1	NM_001478.5(B4GALNT1):c.1384+310C>G	noncoding	Benign
12	57627413	A	T	A57627413T	B4GALNT1	NM_001478.5(B4GALNT1):c.1384+205T>A	noncoding	Benign
12	57628291	G	A	G57628291A	B4GALNT1	NM_001478.5(B4GALNT1):c.1003-29C>T	noncoding	Benign
12	57630203	G	A	G57630203A	B4GALNT1	NM_001478.5(B4GALNT1):c.661C>T:p.Gln221Ter	coding	Pathogenic
12	57630334	T	C	T57630334C	B4GALNT1	NM_001478.5(B4GALNT1):c.532-2A>G	noncoding	Pathogenic/Likely_pathogenic
12	57630602	C	T	C57630602T	B4GALNT1	NM_001478.5(B4GALNT1):c.491-84G>A	noncoding	Benign
12	57630843	G	C	G57630843C	B4GALNT1	NM_001478.5(B4GALNT1):c.490+137C>G	noncoding	Benign
12	57631713	C	A	C57631713A	B4GALNT1	NM_001478.5(B4GALNT1):c.218+202G>T	noncoding	Benign
12	57632218	G	A	G57632218A	B4GALNT1	NM_001478.5(B4GALNT1):c.-1-85C>T	noncoding	Benign
12	57632238	A	G	A57632238G	B4GALNT1	NM_001478.5(B4GALNT1):c.-1-105T>C	noncoding	Benign
12	57632376	A	T	A57632376T	B4GALNT1	NM_001478.5(B4GALNT1):c.-1-243T>A	noncoding	Benign
12	57633003	G	T	G57633003T	B4GALNT1	NM_001478.5(B4GALNT1):c.-233C>A	noncoding	Benign
12	57718406	A	G	A57718406G	OS9	NM_006812.4(OS9):c.1395A>G:p.Glu465=	coding	Benign
12	57749230	C	T	C57749230T	CDK4	NM_000075.4(CDK4):c.771G>A:p.Val257=	coding	Benign/Likely_benign
12	57750769	A	T	A57750769T	CDK4	NM_000075.4(CDK4):c.523-4T>A	noncoding	Benign/Likely_benign
12	57750882	C	T	C57750882T	CDK4	NM_000075.4(CDK4):c.522+41G>A	noncoding	Benign
12	57751373	C	T	C57751373T	CDK4	NM_000075.4(CDK4):c.219-31G>A	noncoding	Benign
12	57763649	G	A	G57763649A	CYP27B1	NM_000785.4(CYP27B1):c.1375C>T:p.Arg459Cys	coding	Pathogenic/Likely_pathogenic
12	57763798	G	A	G57763798A	CYP27B1	NM_000785.4(CYP27B1):c.1226C>T:p.Thr409Ile	coding	Pathogenic
12	57763809	C	G	C57763809G	CYP27B1	NM_000785.4(CYP27B1):c.1216-1G>C	coding	Pathogenic
12	57764775	C	T	C57764775T	CYP27B1	NM_000785.4(CYP27B1):c.942G>A:p.Leu314=	coding	Benign/Likely_benign
12	57765483	G	A	G57765483A	CYP27B1	NM_000785.4(CYP27B1):c.403C>T:p.Gln135Ter	coding	Pathogenic
12	57765538	G	T	G57765538T	CYP27B1	NM_000785.4(CYP27B1):c.387-39C>A	noncoding	Benign
12	57765993	C	A	C57765993A	CYP27B1	NM_000785.4(CYP27B1):c.386+14G>T	noncoding	Benign
12	57766063	G	A	G57766063A	CYP27B1	NM_000785.4(CYP27B1):c.330C>T:p.Phe110=	coding	Benign
12	57766872	C	A	C57766872A	CYP27B1	NM_000785.4(CYP27B1):c.170G>T:p.Gly57Val	coding	Pathogenic
12	57766991	C	T	C57766991T	CYP27B1	NM_000785.4(CYP27B1):c.51G>A:p.Trp17Ter	coding	Pathogenic
12	57782637	C	T	C57782637T	TSFM	Single_allele	noncoding	Benign
12	57782818	C	A	C57782818A	TSFM	NM_005726.6(TSFM):c.17C>A:p.Ser6Ter	coding	Pathogenic
12	57783128	C	T	C57783128T	TSFM	NM_005726.6(TSFM):c.76C>T:p.Gln26Ter	coding	Pathogenic
12	57783137	C	T	C57783137T	TSFM	NM_005726.6(TSFM):c.85C>T:p.Gln29Ter	coding	Pathogenic
12	57783308	C	T	C57783308T	TSFM	NM_005726.6(TSFM):c.231+25C>T	noncoding	Benign
12	57787074	T	A	T57787074A	TSFM	NM_005726.6(TSFM):c.395T>A:p.Leu132Ter	coding	Pathogenic
12	57787082	C	T	C57787082T	TSFM	NM_005726.6(TSFM):c.403C>T:p.Gln135Ter	coding	Pathogenic
12	57791987	A	T	A57791987T	TSFM	NM_005726.6(TSFM):c.484-999A>T	coding	Benign
12	57791990	T	C	T57791990C	TSFM	NM_005726.6(TSFM):c.484-996T>C	coding	Benign
12	57792009	A	G	A57792009G	TSFM	NM_005726.6(TSFM):c.484-977A>G	coding	Benign
12	57792023	T	C	T57792023C	TSFM	NM_005726.6(TSFM):c.484-963T>C	coding	Benign
12	57793074	G	C	G57793074C	TSFM	NM_005726.6(TSFM):c.571+1G>C	coding	Pathogenic
12	57796206	C	T	C57796206T	TSFM	NM_005726.6(TSFM):c.601C>T:p.Arg201Ter	coding	Pathogenic
12	57796253	T	G	T57796253G	TSFM	NM_005726.6(TSFM):c.648T>G:p.Tyr216Ter	coding	Pathogenic
12	57796353	G	T	G57796353T	TSFM	NM_005726.6(TSFM):c.748G>T:p.Glu250Ter	coding	Pathogenic
12	57799665	T	C	T57799665C	AVIL	NM_006576.4(AVIL):c.2346+130A>G	noncoding	Benign
12	57801990	C	T	C57801990T	AVIL	NM_006576.4(AVIL):c.2151+170G>A	noncoding	Benign
12	57802018	T	C	T57802018C	AVIL	NM_006576.4(AVIL):c.2151+142A>G	noncoding	Benign
12	57802664	G	A	G57802664A	TSFM	NM_006576.4(AVIL):c.1963-316C>T	coding	Benign
12	57802745	G	A	G57802745A	TSFM	NM_006576.4(AVIL):c.1963-397C>T	coding	Benign
12	57803019	A	G	A57803019G	TSFM	NM_006576.4(AVIL):c.1962+228T>C	noncoding	Benign
12	57807992	G	A	G57807992A	AVIL	NM_006576.4(AVIL):c.1194+202C>T	noncoding	Benign
12	57808636	C	A	C57808636A	AVIL	NM_006576.4(AVIL):c.940-88G>T	noncoding	Benign
12	57809481	A	G	A57809481G	AVIL	NM_006576.4(AVIL):c.939+116T>C	noncoding	Benign
12	57809571	C	T	C57809571T	AVIL	NM_006576.4(AVIL):c.939+26G>A	noncoding	Benign
12	57809594	T	A	T57809594A	AVIL	NM_006576.4(AVIL):c.939+3A>T	noncoding	Benign
12	57810500	T	C	T57810500C	AVIL	NM_006576.4(AVIL):c.610A>G:p.Lys204Glu	coding	Benign
12	57814381	G	A	G57814381A	AVIL	NM_006576.4(AVIL):c.67-155C>T	noncoding	Benign
12	63624100	C	T	C63624100T	DPY19L2	NM_173812.5(DPY19L2):c.893G>A:p.Arg298His	coding	Pathogenic
12	63779530	A	G	A63779530G	RXYLT1	Single_allele	noncoding	Benign
12	63779793	C	A	C63779793A	RXYLT1	Single_allele	noncoding	Benign
12	63780131	T	C	T63780131C	RXYLT1	NM_014254.3(RXYLT1):c.169+2T>C	coding	Pathogenic
12	63780493	A	G	A63780493G	RXYLT1	NM_014254.3(RXYLT1):c.169+364A>G	noncoding	Benign
12	63780900	G	C	G63780900C	RXYLT1	NM_014254.3(RXYLT1):c.170-119G>C	noncoding	Benign
12	63781105	C	T	C63781105T	RXYLT1	NM_014254.3(RXYLT1):c.256C>T:p.Gln86Ter	coding	Pathogenic
12	63802089	A	G	A63802089G	RXYLT1	NM_014254.3(RXYLT1):c.429-2A>G	noncoding	Pathogenic
12	63802360	G	A	G63802360A	RXYLT1	NM_014254.3(RXYLT1):c.698G>A:p.Trp233Ter	coding	Pathogenic
12	63804950	C	T	C63804950T	RXYLT1	NM_014254.3(RXYLT1):c.744-284C>T	noncoding	Benign
12	63809194	C	A	C63809194A	RXYLT1	NM_014254.3(RXYLT1):c.*102C>A	noncoding	Benign
12	64456088	C	T	C64456088T	TBK1	NM_013254.4(TBK1):c.87+131C>T	noncoding	Benign
12	64466857	G	A	G64466857A	TBK1	NM_013254.4(TBK1):c.359-44G>A	noncoding	Benign
12	64474391	G	A	G64474391A	TBK1	NM_013254.4(TBK1):c.701+1G>A	coding	Pathogenic/Likely_pathogenic
12	64480322	A	C	A64480322C	TBK1	NM_013254.4(TBK1):c.812+200A>C	noncoding	Benign
12	64481601	G	A	G64481601A	TBK1	NM_013254.4(TBK1):c.813-241G>A	noncoding	Benign
12	64481769	A	G	A64481769G	TBK1	NM_013254.4(TBK1):c.813-73A>G	noncoding	Benign
12	64482119	A	G	A64482119G	TBK1	NM_013254.4(TBK1):c.992+98A>G	noncoding	Benign
12	64482238	T	C	T64482238C	TBK1	NM_013254.4(TBK1):c.992+217T>C	noncoding	Benign
12	64484380	G	A	G64484380A	TBK1	NM_013254.4(TBK1):c.1070G>A:p.Arg357Gln	coding	Pathogenic
12	64484463	G	T	G64484463T	TBK1	NM_013254.4(TBK1):c.1153G>T:p.Glu385Ter	coding	Pathogenic/Likely_pathogenic
12	64485385	T	C	T64485385C	TBK1	NM_013254.4(TBK1):c.1190-70T>C	noncoding	Benign
12	64485656	G	T	G64485656T	TBK1	NM_013254.4(TBK1):c.1248+143G>T	noncoding	Benign
12	64485995	C	T	C64485995T	TBK1	NM_013254.4(TBK1):c.1318C>T:p.Arg440Ter	coding	Pathogenic
12	64486012	G	A	G64486012A	TBK1	NM_013254.4(TBK1):c.1335G>A:p.Trp445Ter	coding	Pathogenic
12	64486123	A	G	A64486123G	TBK1	NM_013254.4(TBK1):c.1340+106A>G	noncoding	Benign
12	64488187	G	A	G64488187A	TBK1	NM_013254.4(TBK1):c.1341-300G>A	noncoding	Benign
12	64488860	C	T	C64488860T	TBK1	NM_013254.4(TBK1):c.1442+272C>T	noncoding	Benign
12	64489981	C	A	C64489981A	TBK1	NM_013254.4(TBK1):c.1443-60C>A	noncoding	Benign
12	64490384	G	C	G64490384C	TBK1	NM_013254.4(TBK1):c.1521+265G>C	noncoding	Benign
12	64496696	A	C	A64496696C	TBK1	NM_013254.4(TBK1):c.1761-253A>C	noncoding	Benign
12	64496729	C	T	C64496729T	TBK1	NM_013254.4(TBK1):c.1761-220C>T	noncoding	Benign
12	64496938	C	T	C64496938T	TBK1	NM_013254.4(TBK1):c.1761-11C>T	noncoding	Benign
12	64497234	C	G	C64497234G	TBK1	NM_013254.4(TBK1):c.1934C>G:p.Ser645Ter	coding	Pathogenic
12	64497491	A	G	A64497491G	TBK1	NM_013254.4(TBK1):c.1960-157A>G	noncoding	Benign
12	64497498	G	A	G64497498A	TBK1	NM_013254.4(TBK1):c.1960-150G>A	noncoding	Benign
12	64497621	C	T	C64497621T	TBK1	NM_013254.4(TBK1):c.1960-27C>T	noncoding	Benign
12	64717028	G	A	G64717028A	GNS	NM_002076.4(GNS):c.1581-209C>T	noncoding	Benign
12	64719809	G	A	G64719809A	GNS	NM_002076.4(GNS):c.1580+213C>T	noncoding	Benign
12	64720143	G	A	G64720143A	GNS	NM_002076.4(GNS):c.1459C>T:p.Gln487Ter	coding	Pathogenic
12	64720184	T	C	T64720184C	GNS	NM_002076.4(GNS):c.1420-2A>G	noncoding	Pathogenic
12	64721600	G	A	G64721600A	GNS	NM_002076.4(GNS):c.1414C>T:p.Gln472Ter	coding	Pathogenic
12	64722667	C	G	C64722667G	GNS	NM_002076.4(GNS):c.1308+339G>C	noncoding	Benign
12	64723065	G	A	G64723065A	GNS	NM_002076.4(GNS):c.1249C>T:p.Gln417Ter	coding	Pathogenic
12	64723308	C	T	C64723308T	GNS	NM_002076.4(GNS):c.1201-195G>A	noncoding	Benign
12	64739202	C	T	C64739202T	GNS	NM_002076.4(GNS):c.994+179G>A	noncoding	Benign
12	64739681	C	T	C64739681T	GNS	NM_002076.4(GNS):c.876-182G>A	noncoding	Benign
12	64740605	C	T	C64740605T	GNS	NM_002076.4(GNS):c.875+1G>A	noncoding	Pathogenic
12	64740756	C	G	C64740756G	GNS	NM_002076.4(GNS):c.793-68G>C	noncoding	Benign
12	64743125	T	C	T64743125C	GNS	NM_002076.4(GNS):c.792+16A>G	noncoding	Benign
12	64743279	G	T	G64743279T	GNS	NM_002076.4(GNS):c.654C>A:p.Tyr218Ter	coding	Pathogenic
12	64743356	G	A	G64743356A	GNS	NM_002076.4(GNS):c.625-48C>T	noncoding	Benign
12	64743385	G	T	G64743385T	GNS	NM_002076.4(GNS):c.625-77C>A	noncoding	Benign
12	64743626	A	T	A64743626T	GNS	NM_002076.4(GNS):c.625-318T>A	noncoding	Benign
12	64744895	T	A	T64744895A	GNS	NM_002076.4(GNS):c.538A>T:p.Lys180Ter	coding	Pathogenic
12	64744907	C	A	C64744907A	GNS	NM_002076.4(GNS):c.526G>T:p.Glu176Ter	coding	Pathogenic
12	64745164	G	A	G64745164A	GNS	NM_002076.4(GNS):c.526-257C>T	noncoding	Benign
12	64745625	C	T	C64745625T	GNS	NM_002076.4(GNS):c.525+34G>A	noncoding	Benign
12	64745678	C	T	C64745678T	GNS	NM_002076.4(GNS):c.506G>A:p.Trp169Ter	coding	Pathogenic
12	64748034	C	T	C64748034T	GNS	NM_002076.4(GNS):c.253-116G>A	noncoding	Benign
12	64748191	G	A	G64748191A	GNS	NM_002076.4(GNS):c.253-273C>T	noncoding	Benign
12	64752896	T	C	T64752896C	GNS	NM_002076.4(GNS):c.193-139A>G	noncoding	Benign
12	64759493	T	C	T64759493C	GNS	NM_001330187.2(TBC1D30):c.-532T>C	noncoding	Benign
12	64875267	G	A	G64875267A	TBC1D30	NM_015279.2(TBC1D30):c.1765G>A:p.Val589Ile	coding	Benign
12	65055206	G	A	G65055206A	WIF1	NM_007191.5(WIF1):c.930C>T:p.Cys310=	coding	Benign
12	65055291	A	G	A65055291G	WIF1	NM_007191.5(WIF1):c.923-78T>C	noncoding	Benign
12	65055962	T	C	T65055962C	WIF1	NM_007191.5(WIF1):c.922+69A>G	noncoding	Benign
12	65062685	A	G	A65062685G	WIF1	NM_007191.5(WIF1):c.731-109T>C	noncoding	Benign
12	65066588	A	G	A65066588G	WIF1	NM_007191.5(WIF1):c.730+53T>C	noncoding	Benign
12	65066899	T	C	T65066899C	WIF1	NM_007191.5(WIF1):c.635-163A>G	noncoding	Benign
12	65067677	A	G	A65067677G	WIF1	NM_007191.5(WIF1):c.634+18T>C	noncoding	Benign
12	65068843	A	G	A65068843G	WIF1	NM_007191.5(WIF1):c.459T>C:p.Asp153=	coding	Benign
12	65068980	A	G	A65068980G	WIF1	NM_007191.5(WIF1):c.398-76T>C	noncoding	Benign
12	65077687	A	G	A65077687G	WIF1	NM_007191.5(WIF1):c.397+59T>C	noncoding	Benign
12	65078000	C	A	C65078000A	WIF1	NM_007191.5(WIF1):c.289-146G>T	noncoding	Benign
12	65120486	T	C	T65120486C	WIF1	NM_007191.5(WIF1):c.219A>G:p.Ala73=	coding	Benign
12	65120758	G	C	G65120758C	WIF1	NM_007191.5(WIF1):c.149-202C>G	noncoding	Benign
12	65120790	A	G	A65120790G	WIF1	NM_007191.5(WIF1):c.149-234T>C	noncoding	Benign
12	65120938	G	A	G65120938A	WIF1	NM_007191.5(WIF1):c.148+106C>T	noncoding	Benign
12	65121602	G	A	G65121602A	WIF1	Single_allele	noncoding	Benign
12	65170346	C	G	C65170346G	LEMD3	NM_014319.5(LEMD3):c.750C>G:p.Val250=	coding	Benign
12	65170506	G	T	G65170506T	LEMD3	NM_014319.5(LEMD3):c.910G>T:p.Gly304Cys	coding	Benign
12	65170530	G	T	G65170530T	LEMD3	NM_014319.5(LEMD3):c.934G>T:p.Gly312Ter	coding	Pathogenic
12	65170726	C	G	C65170726G	LEMD3	NM_014319.5(LEMD3):c.1130C>G:p.Ser377Ter	coding	Pathogenic
12	65170801	C	T	C65170801T	LEMD3	NM_014319.5(LEMD3):c.1205C>T:p.Ser402Phe	coding	Benign/Likely_benign
12	65170919	C	A	C65170919A	LEMD3	NM_014319.5(LEMD3):c.1323C>A:p.Tyr441Ter	coding	Pathogenic
12	65170959	C	T	C65170959T	LEMD3	NM_014319.5(LEMD3):c.1363C>T:p.Gln455Ter	coding	Pathogenic
12	65171221	A	G	A65171221G	LEMD3	NM_014319.5(LEMD3):c.1522+103A>G	noncoding	Benign
12	65210961	C	T	C65210961T	LEMD3	NM_014319.5(LEMD3):c.1558C>T:p.Gln520Ter	coding	Pathogenic
12	65211137	G	A	G65211137A	LEMD3	NM_014319.5(LEMD3):c.1560+174G>A	noncoding	Benign
12	65216025	C	T	C65216025T	LEMD3	NM_014319.5(LEMD3):c.1609C>T:p.Arg537Ter	coding	Pathogenic
12	65216073	A	T	A65216073T	LEMD3	NM_014319.5(LEMD3):c.1627+30A>T	noncoding	Benign
12	65218319	G	A	G65218319A	LEMD3	NM_014319.5(LEMD3):c.1628-233G>A	noncoding	Benign
12	65218719	G	A	G65218719A	LEMD3	NM_014319.5(LEMD3):c.1695+100G>A	noncoding	Benign
12	65238435	A	G	A65238435G	LEMD3	NM_014319.5(LEMD3):c.1696-67A>G	noncoding	Benign
12	65239612	A	G	A65239612G	LEMD3	NM_014319.5(LEMD3):c.1922-317A>G	noncoding	Benign
12	65240134	A	G	A65240134G	LEMD3	NM_014319.5(LEMD3):c.2024-2A>G	noncoding	Pathogenic
12	65240985	C	T	C65240985T	LEMD3	NM_014319.5(LEMD3):c.2203C>T:p.Arg735Ter	coding	Pathogenic
12	65241199	G	T	G65241199T	LEMD3	NM_014319.5(LEMD3):c.2305+112G>T	noncoding	Benign
12	65243468	A	T	A65243468T	LEMD3	NM_014319.5(LEMD3):c.2386A>T:p.Met796Leu	coding	Benign
12	65245624	C	T	C65245624T	LEMD3	NM_014319.5(LEMD3):c.2388-45C>T	noncoding	Benign
12	65278326	G	A	G65278326A	MSRB3	Single_allele	noncoding	Benign
12	65326863	T	C	T65326863C	MSRB3	NM_001031679.3(MSRB3):c.114T>C:p.Phe38=	coding	Benign/Likely_benign
12	65327044	A	G	A65327044G	MSRB3	NM_001031679.3(MSRB3):c.185+110A>G	noncoding	Benign
12	65328868	G	A	G65328868A	MSRB3	NM_001031679.3(MSRB3):c.263+265G>A	noncoding	Benign
12	65369095	C	T	C65369095T	MSRB3	NM_001031679.3(MSRB3):c.292+69C>T	noncoding	Benign
12	65453926	G	A	G65453926A	MSRB3	NM_001031679.3(MSRB3):c.390+101G>A	noncoding	Benign
12	65463119	C	T	C65463119T	MSRB3	NM_001031679.3(MSRB3):c.391-36C>T	noncoding	Benign
12	66465441	T	C	T66465441C	GRIP1	NM_001366722.1(GRIP1):c.725-19A>G	noncoding	Benign
12	68157629	C	T	C68157629T	IFNG	NM_000619.3(IFNG):c.366+284G>A	noncoding	Benign
12	68159923	C	A	C68159923A	IFNG	NG_015840.1:g.4819G>T	noncoding	Pathogenic
12	68326847	G	A	G68326847A	MDM1	NM_001354969.2(MDM1):c.308C>T:p.Thr103Ile	coding	Benign
12	68648409	G	A	G68648409A	RAP1B	NM_001010942.3(RAP1B):c.-26-290G>A	noncoding	Benign
12	68648715	A	G	A68648715G	RAP1B	NM_001010942.3(RAP1B):c.-10A>G	noncoding	Benign
12	68648910	T	G	T68648910G	RAP1B	NM_001010942.3(RAP1B):c.57+129T>G	noncoding	Benign
12	68650501	G	T	G68650501T	RAP1B	NM_001010942.3(RAP1B):c.126+33G>T	noncoding	Benign
12	68650696	T	G	T68650696G	RAP1B	NM_001010942.3(RAP1B):c.126+228T>G	noncoding	Benign
12	68654358	G	A	G68654358A	RAP1B	NM_001010942.3(RAP1B):c.324+106G>A	noncoding	Benign
12	68686836	A	G	A68686836G	NUP107	NR_038930.1(LOC100507250):n.24T>C	noncoding	Benign
12	68686948	T	G	T68686948G	NUP107	Single_allele	noncoding	Benign
12	68688816	G	A	G68688816A	NUP107	NM_020401.4(NUP107):c.9-146G>A	noncoding	Benign
12	68688889	A	G	A68688889G	NUP107	NM_020401.4(NUP107):c.9-73A>G	noncoding	Benign
12	68689025	G	A	G68689025A	NUP107	NM_020401.4(NUP107):c.72G>A:p.Arg24=	coding	Benign
12	68689457	A	G	A68689457G	NUP107	NM_020401.4(NUP107):c.101-76A>G	noncoding	Benign
12	68690346	C	T	C68690346T	NUP107	NM_020401.4(NUP107):c.188-285C>T	noncoding	Benign
12	68690492	A	G	A68690492G	NUP107	NM_020401.4(NUP107):c.188-139A>G	noncoding	Benign
12	68690761	A	G	A68690761G	NUP107	NM_020401.4(NUP107):c.303+15A>G	noncoding	Benign
12	68690952	T	C	T68690952C	NUP107	NM_020401.4(NUP107):c.303+206T>C	noncoding	Benign
12	68690990	G	A	G68690990A	NUP107	NM_020401.4(NUP107):c.303+244G>A	noncoding	Benign
12	68696904	A	G	A68696904G	NUP107	NM_020401.4(NUP107):c.534A>G:p.Glu178=	coding	Benign/Likely_benign
12	68696974	A	G	A68696974G	NUP107	NM_020401.4(NUP107):c.552+52A>G	noncoding	Benign
12	68697023	G	C	G68697023C	NUP107	NM_020401.4(NUP107):c.552+101G>C	noncoding	Benign
12	68700827	A	G	A68700827G	NUP107	NM_020401.4(NUP107):c.654A>G:p.Thr218=	coding	Benign/Likely_benign
12	68708946	T	C	T68708946C	NUP107	NM_020401.4(NUP107):c.730-292T>C	noncoding	Benign
12	68709374	A	G	A68709374G	NUP107	NM_020401.4(NUP107):c.801+65A>G	noncoding	Benign
12	68709418	C	G	C68709418G	NUP107	NM_020401.4(NUP107):c.801+109C>G	noncoding	Benign
12	68713493	G	A	G68713493A	NUP107	NM_020401.4(NUP107):c.891-237G>A	noncoding	Benign
12	68713999	G	C	G68713999C	NUP107	NM_020401.4(NUP107):c.969+191G>C	noncoding	Benign
12	68715837	T	C	T68715837C	NUP107	NM_020401.4(NUP107):c.1083+97T>C	noncoding	Benign
12	68719252	A	G	A68719252G	NUP107	NM_020401.4(NUP107):c.1084-89A>G	noncoding	Benign
12	68721475	A	G	A68721475G	NUP107	NM_020401.4(NUP107):c.1311+298A>G	noncoding	Benign
12	68721716	T	A	T68721716A	NUP107	NM_020401.4(NUP107):c.1312-125T>A	noncoding	Benign
12	68721918	G	A	G68721918A	NUP107	NM_020401.4(NUP107):c.1389G>A:p.Gln463=	coding	Benign
12	68722403	A	G	A68722403G	NUP107	NM_020401.4(NUP107):c.1506+251A>G	noncoding	Benign
12	68725473	A	C	A68725473C	NUP107	NM_020401.4(NUP107):c.1507-254A>C	noncoding	Benign
12	68725838	T	G	T68725838G	NUP107	NM_020401.4(NUP107):c.1576+42T>G	noncoding	Benign
12	68726633	C	T	C68726633T	NUP107	NM_020401.4(NUP107):c.1695+16C>T	noncoding	Benign/Likely_benign
12	68726861	G	A	G68726861A	NUP107	NM_020401.4(NUP107):c.1695+244G>A	noncoding	Benign
12	68731733	G	T	G68731733T	NUP107	NM_020401.4(NUP107):c.1998+14G>T	noncoding	Benign
12	68731734	G	T	G68731734T	NUP107	NM_020401.4(NUP107):c.1998+15G>T	noncoding	Benign
12	68731798	C	T	C68731798T	NUP107	NM_020401.4(NUP107):c.1998+79C>T	noncoding	Benign
12	68731897	G	A	G68731897A	NUP107	NM_020401.4(NUP107):c.1998+178G>A	noncoding	Benign
12	68732058	A	G	A68732058G	NUP107	NM_020401.4(NUP107):c.1998+339A>G	noncoding	Benign
12	68733465	C	T	C68733465T	NUP107	NM_020401.4(NUP107):c.2115C>T:p.His705=	coding	Benign/Likely_benign
12	68733720	C	T	C68733720T	NUP107	NM_020401.4(NUP107):c.2262+108C>T	noncoding	Benign
12	68734687	T	C	T68734687C	NUP107	NM_020401.4(NUP107):c.2263-21T>C	noncoding	Benign
12	68734904	G	A	G68734904A	NUP107	NM_020401.4(NUP107):c.2388+71G>A	noncoding	Benign
12	68734983	G	A	G68734983A	NUP107	NM_020401.4(NUP107):c.2388+150G>A	noncoding	Benign
12	68742707	T	A	T68742707A	NUP107	NM_020401.4(NUP107):c.*245T>A	noncoding	Benign
12	68808017	C	G	C68808017G	MDM2	NC_000012.11:g.69201797C>G	noncoding	Benign
12	68808384	A	G	A68808384G	MDM2	NM_002392.6(MDM2):c.-94A>G	noncoding	Benign
12	68808546	C	T	C68808546T	MDM2	NM_002392.6(MDM2):c.14+55C>T	noncoding	Benign/Likely_benign
12	68808776	G	C	G68808776C	MDM2	NM_002392.6(MDM2):c.14+285G>C	noncoding	Benign
12	68808800	T	G	T68808800G	MDM2	NM_002392.6(MDM2):c.14+309T>G	noncoding	Benign
12	68836764	A	T	A68836764T	MDM2	NM_002392.6(MDM2):c.918+15A>T	noncoding	Benign
12	68839435	A	G	A68839435G	MDM2	NM_002392.6(MDM2):c.1080A>G:p.Glu360=	coding	Benign
12	69586302	T	C	T69586302C	CCT2	NM_006431.3(CCT2):c.36T>C:p.Phe12=	coding	Benign
12	69586361	G	C	G69586361C	CCT2	NM_006431.3(CCT2):c.78+17G>C	noncoding	Benign
12	69586834	A	G	A69586834G	CCT2	NM_006431.3(CCT2):c.144+16A>G	noncoding	Benign
12	69587486	C	A	C69587486A	CCT2	NM_006431.3(CCT2):c.145-19C>A	noncoding	Benign
12	69592969	G	T	G69592969T	CCT2	NM_006431.3(CCT2):c.751-7G>T	noncoding	Benign
12	69593008	A	G	A69593008G	CCT2	NM_006431.3(CCT2):c.783A>G:p.Thr261=	coding	Benign
12	69597953	A	G	A69597953G	CCT2	NM_006431.3(CCT2):c.1232-15A>G	noncoding	Benign
12	69609715	G	A	G69609715A	LRRC10	NM_201550.4(LRRC10):c.*290C>T	noncoding	Benign
12	69609852	T	G	T69609852G	LRRC10	NM_201550.4(LRRC10):c.*153A>C	noncoding	Benign
12	69610644	A	G	A69610644G	LRRC10	NM_201550.4(LRRC10):c.195T>C:p.Asn65=	coding	Benign
12	69611231	T	G	T69611231G	LRRC10	Single_allele	noncoding	Benign
12	69643740	G	A	G69643740A	BEST3	NM_001282614.2(BEST3):c.1148C>T:p.Pro383Leu	coding	Benign
12	69697652	T	C	T69697652C	BEST3	NM_032735.3(BEST3):c.147A>G:p.Val49=	coding	Benign
12	70559497	T	C	T70559497C	PTPRB	NM_001109754.4(PTPRB):c.4560A>G:p.Ala1520=	coding	Benign
12	75050594	C	G	C75050594G	KCNC2	NM_139137.4(KCNC2):c.1411G>C:p.Val471Leu	coding	Pathogenic
12	75050696	T	C	T75050696C	KCNC2	NM_139137.4(KCNC2):c.1309A>G:p.Thr437Ala	coding	Pathogenic
12	75207485	C	A	C75207485A	KCNC2	NM_139137.4(KCNC2):c.499G>T:p.Asp167Tyr	coding	Pathogenic
12	75207580	T	C	T75207580C	KCNC2	NM_139137.4(KCNC2):c.404A>G:p.Glu135Gly	coding	Pathogenic
12	75207609	G	C	G75207609C	KCNC2	NM_139137.4(KCNC2):c.375C>G:p.Cys125Trp	coding	Pathogenic
12	76346146	A	T	A76346146T	BBS10	NM_024685.4(BBS10):c.1839T>A:p.Tyr613Ter	coding	Pathogenic
12	76346331	C	A	C76346331A	BBS10	NM_024685.4(BBS10):c.1654G>T:p.Gly552Ter	coding	Pathogenic
12	76346620	A	C	A76346620C	BBS10	NM_024685.4(BBS10):c.1365T>G:p.Tyr455Ter	coding	Pathogenic
12	76347022	A	C	A76347022C	BBS10	NM_024685.4(BBS10):c.963T>G:p.Tyr321Ter	coding	Pathogenic
12	76347102	T	A	T76347102A	BBS10	NM_024685.4(BBS10):c.883A>T:p.Lys295Ter	coding	Pathogenic
12	76347192	G	A	G76347192A	BBS10	NM_024685.4(BBS10):c.793C>T:p.Gln265Ter	coding	Pathogenic
12	76347546	G	A	G76347546A	BBS10	NM_024685.4(BBS10):c.439C>T:p.Gln147Ter	coding	Pathogenic
12	76347576	G	A	G76347576A	BBS10	NM_024685.4(BBS10):c.409C>T:p.Gln137Ter	coding	Pathogenic
12	76347594	G	A	G76347594A	BBS10	NM_024685.4(BBS10):c.391C>T:p.Gln131Ter	coding	Pathogenic
12	76347949	C	T	C76347949T	BBS10	NM_024685.4(BBS10):c.198-162G>A	noncoding	Benign
12	76348275	G	T	G76348275T	BBS10	NM_024685.4(BBS10):c.84C>A:p.Cys28Ter	coding	Pathogenic
12	76348538	A	G	A76348538G	BBS10	Single_allele	noncoding	Benign
12	77831594	A	G	A77831594G	NAV3	NM_001024383.2(NAV3):c.133A>G:p.Thr45Ala	coding	Benign
12	79217594	C	T	C79217594T	SYT1	NM_005639.3(SYT1):c.75C>T:p.Asn25=	coding	Benign
12	79292133	C	A	C79292133A	SYT1	NM_005639.3(SYT1):c.474+3C>A	noncoding	Benign
12	79353617	C	T	C79353617T	SYT1	NM_005639.3(SYT1):c.926C>T:p.Ser309Phe	coding	Pathogenic/Likely_pathogenic
12	79448929	G	T	G79448929T	SYT1	NM_005639.3(SYT1):c.1074G>T:p.Val358=	coding	Benign
12	79449053	C	T	C79449053T	SYT1	NM_005639.3(SYT1):c.1198C>T:p.Arg400Ter	coding	Pathogenic
12	79796870	C	G	C79796870G	PPP1R12A	NM_002480.3(PPP1R12A):c.2373G>C:p.Leu791=	coding	Benign
12	79796908	T	C	T79796908C	PPP1R12A	NM_002480.3(PPP1R12A):c.2335A>G:p.Thr779Ala	coding	Benign
12	79806178	C	G	C79806178G	PPP1R12A	NM_002480.3(PPP1R12A):c.1811G>C:p.Gly604Ala	coding	Benign
12	80209626	A	T	A80209626T	OTOGL	NM_001378609.3(OTOGL):c.79+116A>T	noncoding	Benign
12	80209639	A	G	A80209639G	OTOGL	NM_001378609.3(OTOGL):c.79+129A>G	noncoding	Benign
12	80211020	A	C	A80211020C	OTOGL	NM_001378609.3(OTOGL):c.119+134A>C	noncoding	Benign
12	80217941	C	T	C80217941T	OTOGL	NM_001378609.3(OTOGL):c.235+277C>T	noncoding	Benign
12	80220102	A	G	A80220102G	OTOGL	NM_001378609.3(OTOGL):c.334+190A>G	noncoding	Benign
12	80222475	A	G	A80222475G	OTOGL	NM_001378609.3(OTOGL):c.489+230A>G	noncoding	Benign
12	80222508	G	A	G80222508A	OTOGL	NM_001378609.3(OTOGL):c.489+263G>A	noncoding	Benign
12	80228919	G	A	G80228919A	OTOGL	NM_001378609.3(OTOGL):c.490-338G>A	noncoding	Benign
12	80229214	A	G	A80229214G	OTOGL	NM_001378609.3(OTOGL):c.490-43A>G	noncoding	Benign
12	80233190	T	G	T80233190G	OTOGL	NM_001378609.3(OTOGL):c.817+93T>G	noncoding	Benign
12	80238776	A	G	A80238776G	OTOGL	NM_001378609.3(OTOGL):c.818-75A>G	noncoding	Benign
12	80238803	T	C	T80238803C	OTOGL	NM_001378609.3(OTOGL):c.818-48T>C	noncoding	Benign
12	80239313	T	C	T80239313C	OTOGL	NM_001378609.3(OTOGL):c.946-20T>C	noncoding	Benign
12	80239558	A	G	A80239558G	OTOGL	NM_001378609.3(OTOGL):c.1052+119A>G	noncoding	Benign
12	80251463	A	G	A80251463G	OTOGL	NM_001378609.3(OTOGL):c.1053-230A>G	noncoding	Benign
12	80251718	C	T	C80251718T	OTOGL	NM_001378609.3(OTOGL):c.1078C>T:p.Arg360Ter	coding	Pathogenic/Likely_pathogenic
12	80252019	A	T	A80252019T	OTOGL	NM_001378609.3(OTOGL):c.1160-57A>T	noncoding	Benign
12	80253375	A	G	A80253375G	OTOGL	NM_001378609.3(OTOGL):c.1286-91A>G	noncoding	Benign
12	80253672	A	G	A80253672G	OTOGL	NM_001378609.3(OTOGL):c.1394+98A>G	noncoding	Benign
12	80253835	C	A	C80253835A	OTOGL	NM_001378609.3(OTOGL):c.1394+261C>A	noncoding	Benign
12	80254619	C	T	C80254619T	OTOGL	NM_001378609.3(OTOGL):c.1441+49C>T	noncoding	Benign
12	80254843	A	G	A80254843G	OTOGL	NM_001378609.3(OTOGL):c.1442-197A>G	noncoding	Benign
12	80254893	A	G	A80254893G	OTOGL	NM_001378609.3(OTOGL):c.1442-147A>G	noncoding	Benign
12	80255224	A	C	A80255224C	OTOGL	NM_001378609.3(OTOGL):c.1587+39A>C	noncoding	Benign
12	80255376	A	G	A80255376G	OTOGL	NM_001378609.3(OTOGL):c.1587+191A>G	noncoding	Benign
12	80256209	C	G	C80256209G	OTOGL	NM_001378609.3(OTOGL):c.1588-128C>G	noncoding	Benign
12	80256247	T	C	T80256247C	OTOGL	NM_001378609.3(OTOGL):c.1588-90T>C	noncoding	Benign
12	80256471	G	A	G80256471A	OTOGL	NM_001378609.3(OTOGL):c.1711+11G>A	noncoding	Benign/Likely_benign
12	80257805	C	T	C80257805T	OTOGL	NM_001378609.3(OTOGL):c.1712-20C>T	noncoding	Benign
12	80257947	A	T	A80257947T	OTOGL	NM_001378609.3(OTOGL):c.1834A>T:p.Arg612Ter	coding	Pathogenic
12	80261912	G	A	G80261912A	OTOGL	NM_001378609.3(OTOGL):c.1890-57G>A	noncoding	Benign
12	80262060	G	A	G80262060A	OTOGL	NM_001378609.3(OTOGL):c.1981G>A:p.Val661Met	coding	Benign
12	80262081	A	C	A80262081C	OTOGL	NM_001378609.3(OTOGL):c.2002A>C:p.Asn668His	coding	Benign
12	80266719	T	C	T80266719C	OTOGL	NM_001378609.3(OTOGL):c.2390+103T>C	noncoding	Benign
12	80266868	C	G	C80266868G	OTOGL	NM_001378609.3(OTOGL):c.2390+252C>G	noncoding	Benign
12	80267237	C	A	C80267237A	OTOGL	NM_001378609.3(OTOGL):c.2391-16C>A	noncoding	Benign/Likely_benign
12	80267251	A	G	A80267251G	OTOGL	NM_001378609.3(OTOGL):c.2391-2A>G	noncoding	Pathogenic
12	80267256	C	T	C80267256T	OTOGL	NM_001378609.3(OTOGL):c.2394C>T:p.Phe798=	coding	Benign
12	80267529	A	G	A80267529G	OTOGL	NM_001378609.3(OTOGL):c.2465+202A>G	noncoding	Benign
12	80270045	G	A	G80270045A	OTOGL	NM_001378609.3(OTOGL):c.2466-57G>A	noncoding	Benign
12	80270058	A	C	A80270058C	OTOGL	NM_001378609.3(OTOGL):c.2466-44A>C	noncoding	Benign
12	80270073	C	T	C80270073T	OTOGL	NM_001378609.3(OTOGL):c.2466-29C>T	noncoding	Benign
12	80271617	A	G	A80271617G	OTOGL	NM_001378609.3(OTOGL):c.2519-31A>G	noncoding	Benign
12	80272099	T	C	T80272099C	OTOGL	NM_001378609.3(OTOGL):c.2681+289T>C	noncoding	Benign
12	80278054	C	T	C80278054T	OTOGL	NM_001378609.3(OTOGL):c.2682-114C>T	noncoding	Benign
12	80278753	C	A	C80278753A	OTOGL	NM_001378609.3(OTOGL):c.2790-275C>A	noncoding	Benign
12	80279180	A	G	A80279180G	OTOGL	NM_001378609.3(OTOGL):c.2928+14A>G	noncoding	Benign
12	80296559	G	A	G80296559A	OTOGL	NM_001378609.3(OTOGL):c.2929-268G>A	noncoding	Benign
12	80296614	A	G	A80296614G	OTOGL	NM_001378609.3(OTOGL):c.2929-213A>G	noncoding	Benign
12	80296645	C	A	C80296645A	OTOGL	NM_001378609.3(OTOGL):c.2929-182C>A	noncoding	Benign
12	80296676	G	A	G80296676A	OTOGL	NM_001378609.3(OTOGL):c.2929-151G>A	noncoding	Benign
12	80297092	C	T	C80297092T	OTOGL	NM_001378609.3(OTOGL):c.3063+131C>T	noncoding	Benign
12	80297139	T	C	T80297139C	OTOGL	NM_001378609.3(OTOGL):c.3063+178T>C	noncoding	Benign
12	80297178	T	C	T80297178C	OTOGL	NM_001378609.3(OTOGL):c.3063+217T>C	noncoding	Benign
12	80297237	G	A	G80297237A	OTOGL	NM_001378609.3(OTOGL):c.3063+276G>A	noncoding	Benign
12	80302139	T	C	T80302139C	OTOGL	NM_001378609.3(OTOGL):c.3064-495T>C	noncoding	Benign
12	80302617	T	C	T80302617C	OTOGL	NM_001378609.3(OTOGL):c.3064-17T>C	noncoding	Benign
12	80302780	G	A	G80302780A	OTOGL	NM_001378609.3(OTOGL):c.3210G>A:p.Trp1070Ter	coding	Pathogenic
12	80302811	T	C	T80302811C	OTOGL	NM_001378609.3(OTOGL):c.3213+28T>C	noncoding	Benign
12	80310743	A	C	A80310743C	OTOGL	NM_001378609.3(OTOGL):c.3450+16A>C	noncoding	Benign/Likely_benign
12	80310926	A	G	A80310926G	OTOGL	NM_001378609.3(OTOGL):c.3450+199A>G	noncoding	Benign
12	80313373	C	T	C80313373T	OTOGL	NM_001378609.3(OTOGL):c.3451-103C>T	noncoding	Benign
12	80313430	A	T	A80313430T	OTOGL	NM_001378609.3(OTOGL):c.3451-46A>T	noncoding	Benign
12	80313526	C	A	C80313526A	OTOGL	NM_001378609.3(OTOGL):c.3501C>A:p.Cys1167Ter	coding	Pathogenic
12	80313644	A	C	A80313644C	OTOGL	NM_001378609.3(OTOGL):c.3607+12A>C	noncoding	Benign/Likely_benign
12	80314191	C	A	C80314191A	OTOGL	NM_001378609.3(OTOGL):c.3608-114C>A	noncoding	Benign
12	80318258	G	A	G80318258A	OTOGL	NM_001378609.3(OTOGL):c.3635-288G>A	noncoding	Benign
12	80318317	T	C	T80318317C	OTOGL	NM_001378609.3(OTOGL):c.3635-229T>C	noncoding	Benign
12	80318527	A	C	A80318527C	OTOGL	NM_001378609.3(OTOGL):c.3635-19A>C	noncoding	Benign
12	80318613	G	A	G80318613A	OTOGL	NM_001378609.3(OTOGL):c.3702G>A:p.Met1234Ile	coding	Benign
12	80320608	G	C	G80320608C	OTOGL	NM_001378609.3(OTOGL):c.3989G>C:p.Gly1330Ala	coding	Benign
12	80323787	C	A	C80323787A	OTOGL	NM_001378609.3(OTOGL):c.4146C>A:p.Pro1382=	coding	Benign/Likely_benign
12	80323858	A	G	A80323858G	OTOGL	NM_001378609.3(OTOGL):c.4199+18A>G	noncoding	Benign
12	80323941	T	A	T80323941A	OTOGL	NM_001378609.3(OTOGL):c.4199+101T>A	noncoding	Benign
12	80324146	T	C	T80324146C	OTOGL	NM_001378609.3(OTOGL):c.4199+306T>C	noncoding	Benign
12	80328461	A	C	A80328461C	OTOGL	NM_001378609.3(OTOGL):c.4200-204A>C	noncoding	Benign
12	80328757	G	A	G80328757A	OTOGL	NM_001378609.3(OTOGL):c.4279+13G>A	noncoding	Benign/Likely_benign
12	80329046	T	C	T80329046C	OTOGL	NM_001378609.3(OTOGL):c.4280-5T>C	noncoding	Benign/Likely_benign
12	80329256	T	C	T80329256C	OTOGL	NM_001378609.3(OTOGL):c.4348+137T>C	noncoding	Benign
12	80332913	A	T	A80332913T	OTOGL	NM_001378609.3(OTOGL):c.4349-92A>T	noncoding	Benign
12	80333009	G	A	G80333009A	OTOGL	NM_001378609.3(OTOGL):c.4353G>A:p.Trp1451Ter	coding	Pathogenic
12	80333300	A	G	A80333300G	OTOGL	NM_001378609.3(OTOGL):c.4422+222A>G	noncoding	Benign
12	80336520	A	G	A80336520G	OTOGL	NM_001378609.3(OTOGL):c.4708A>G:p.Ile1570Val	coding	Benign/Likely_benign
12	80336686	G	A	G80336686A	OTOGL	NM_001378609.3(OTOGL):c.4744-111G>A	noncoding	Benign
12	80336884	G	A	G80336884A	OTOGL	NM_001378609.3(OTOGL):c.4768-28G>A	noncoding	Benign
12	80337260	A	G	A80337260G	OTOGL	NM_001378609.3(OTOGL):c.4860+256A>G	noncoding	Benign
12	80337280	T	A	T80337280A	OTOGL	NM_001378609.3(OTOGL):c.4860+276T>A	noncoding	Benign
12	80339056	T	C	T80339056C	OTOGL	NM_001378609.3(OTOGL):c.4861-19T>C	noncoding	Benign/Likely_benign
12	80339120	G	A	G80339120A	OTOGL	NM_001378609.3(OTOGL):c.4906G>A:p.Glu1636Lys	coding	Benign/Likely_benign
12	80341715	A	C	A80341715C	OTOGL	NM_001378609.3(OTOGL):c.5051-233A>C	noncoding	Benign
12	80341964	T	C	T80341964C	OTOGL	NM_001378609.3(OTOGL):c.5067T>C:p.Asp1689=	coding	Benign
12	80352449	T	G	T80352449G	OTOGL	NM_001378609.3(OTOGL):c.5407+13T>G	noncoding	Benign/Likely_benign
12	80353106	C	A	C80353106A	OTOGL	NM_001378609.3(OTOGL):c.5408-219C>A	noncoding	Benign
12	80353366	C	T	C80353366T	OTOGL	NM_001378609.3(OTOGL):c.5449C>T:p.Arg1817Ter	coding	Pathogenic/Likely_pathogenic
12	80355612	A	T	A80355612T	OTOGL	NM_001378609.3(OTOGL):c.5594-124A>T	noncoding	Benign
12	80356154	A	G	A80356154G	OTOGL	NM_001378609.3(OTOGL):c.5806+206A>G	noncoding	Benign
12	80356852	G	A	G80356852A	OTOGL	NM_001378609.3(OTOGL):c.5957G>A:p.Arg1986Lys	coding	Benign
12	80357114	A	G	A80357114G	OTOGL	NM_001378609.3(OTOGL):c.6019+200A>G	noncoding	Benign
12	80358292	G	T	G80358292T	OTOGL	NM_001378609.3(OTOGL):c.6064G>T:p.Glu2022Ter	coding	Pathogenic
12	80359079	G	T	G80359079T	OTOGL	NM_001378609.3(OTOGL):c.6267+179G>T	noncoding	Benign
12	80366577	G	T	G80366577T	OTOGL	NM_001378609.3(OTOGL):c.6271G>T:p.Glu2091Ter	coding	Pathogenic
12	80366790	A	G	A80366790G	OTOGL	NM_001378609.3(OTOGL):c.6331+153A>G	noncoding	Benign
12	80367584	C	T	C80367584T	OTOGL	NM_001378609.3(OTOGL):c.6355C>T:p.Gln2119Ter	coding	Pathogenic
12	80367656	G	T	G80367656T	OTOGL	NM_001378609.3(OTOGL):c.6427G>T:p.Glu2143Ter	coding	Pathogenic
12	80367658	G	A	G80367658A	OTOGL	NM_001378609.3(OTOGL):c.6429G>A:p.Glu2143=	coding	Benign
12	80368180	G	A	G80368180A	OTOGL	NM_001378609.3(OTOGL):c.6511-25G>A	noncoding	Benign
12	80368466	G	A	G80368466A	OTOGL	NM_001378609.3(OTOGL):c.6615+157G>A	noncoding	Benign
12	80370349	A	C	A80370349C	OTOGL	NM_001378609.3(OTOGL):c.6616-221A>C	noncoding	Benign
12	80370551	C	T	C80370551T	OTOGL	NM_001378609.3(OTOGL):c.6616-19C>T	noncoding	Benign/Likely_benign
12	80370794	C	T	C80370794T	OTOGL	NM_001378609.3(OTOGL):c.6735+105C>T	noncoding	Benign
12	80370876	G	A	G80370876A	OTOGL	NM_001378609.3(OTOGL):c.6735+187G>A	noncoding	Benign
12	80371961	C	T	C80371961T	OTOGL	NM_001378609.3(OTOGL):c.6736-58C>T	noncoding	Benign
12	80372153	C	G	C80372153G	OTOGL	NM_001378609.3(OTOGL):c.6781+89C>G	noncoding	Benign
12	80372165	G	A	G80372165A	OTOGL	NM_001378609.3(OTOGL):c.6781+101G>A	noncoding	Benign
12	80372365	C	T	C80372365T	OTOGL	NM_001378609.3(OTOGL):c.6781+301C>T	noncoding	Benign
12	80376984	A	G	A80376984G	OTOGL	NM_001378609.3(OTOGL):c.6782-139A>G	noncoding	Benign
12	80377555	A	G	A80377555G	OTOGL	NM_001378609.3(OTOGL):c.6862-293A>G	noncoding	Benign
12	80377829	T	A	T80377829A	OTOGL	NM_001378609.3(OTOGL):c.6862-19T>A	noncoding	Benign
12	80425096	A	G	A80425096G	PTPRQ	Single_allele	noncoding	Benign
12	80444099	G	C	G80444099C	PTPRQ	Single_allele	noncoding	Benign
12	80444134	T	A	T80444134A	PTPRQ	Single_allele	noncoding	Benign
12	80444138	T	A	T80444138A	PTPRQ	Single_allele	noncoding	Benign
12	80444232	T	C	T80444232C	PTPRQ	Single_allele	noncoding	Benign
12	80445010	A	G	A80445010G	PTPRQ	NM_001145026.2(PTPRQ):c.163+161A>G	noncoding	Benign
12	80445105	A	G	A80445105G	PTPRQ	NM_001145026.2(PTPRQ):c.163+256A>G	noncoding	Benign
12	80445440	A	T	A80445440T	PTPRQ	NM_001145026.2(PTPRQ):c.164-51A>T	noncoding	Benign
12	80445533	C	G	C80445533G	PTPRQ	NM_001145026.2(PTPRQ):c.206C>G:p.Ser69Cys	coding	Benign
12	80445613	G	A	G80445613A	PTPRQ	NM_001145026.2(PTPRQ):c.286G>A:p.Val96Ile	coding	Benign
12	80456753	A	G	A80456753G	PTPRQ	NM_001145026.2(PTPRQ):c.391-822A>G	noncoding	Benign
12	80456912	A	G	A80456912G	PTPRQ	NM_001145026.2(PTPRQ):c.391-663A>G	noncoding	Benign
12	80457252	T	C	T80457252C	PTPRQ	NM_001145026.2(PTPRQ):c.391-323T>C	noncoding	Benign
12	80457419	G	A	G80457419A	PTPRQ	NM_001145026.2(PTPRQ):c.391-156G>A	noncoding	Benign
12	80457673	G	A	G80457673A	PTPRQ	NM_001145026.2(PTPRQ):c.460+29G>A	noncoding	Benign
12	80459333	A	T	A80459333T	PTPRQ	NM_001145026.2(PTPRQ):c.510A>T:p.Ala170=	coding	Benign
12	80460849	C	T	C80460849T	PTPRQ	NM_001145026.2(PTPRQ):c.857C>T:p.Ala286Val	coding	Benign
12	80468460	G	A	G80468460A	PTPRQ	NM_001145026.2(PTPRQ):c.911-250G>A	noncoding	Benign
12	80468685	T	C	T80468685C	PTPRQ	NM_001145026.2(PTPRQ):c.911-25T>C	noncoding	Benign
12	80468943	C	T	C80468943T	PTPRQ	NM_001145026.2(PTPRQ):c.1039+105C>T	noncoding	Benign
12	80469083	T	G	T80469083G	PTPRQ	NM_001145026.2(PTPRQ):c.1039+245T>G	noncoding	Benign
12	80471787	C	T	C80471787T	PTPRQ	NM_001145026.2(PTPRQ):c.1040-318C>T	noncoding	Benign
12	80471806	T	C	T80471806C	PTPRQ	NM_001145026.2(PTPRQ):c.1040-299T>C	noncoding	Benign
12	80471966	A	G	A80471966G	PTPRQ	NM_001145026.2(PTPRQ):c.1040-139A>G	noncoding	Benign
12	80472210	C	G	C80472210G	PTPRQ	NM_001145026.2(PTPRQ):c.1145C>G:p.Thr382Ser	coding	Benign
12	80484364	G	A	G80484364A	PTPRQ	NM_001145026.2(PTPRQ):c.1187-69G>A	noncoding	Benign
12	80484395	T	A	T80484395A	PTPRQ	NM_001145026.2(PTPRQ):c.1187-38T>A	noncoding	Benign
12	80493007	C	T	C80493007T	PTPRQ	NM_001145026.2(PTPRQ):c.1360-268C>T	noncoding	Benign
12	80493198	T	G	T80493198G	PTPRQ	NM_001145026.2(PTPRQ):c.1360-77T>G	noncoding	Benign
12	80494791	C	T	C80494791T	PTPRQ	NM_001145026.2(PTPRQ):c.1541-142C>T	noncoding	Benign
12	80494888	A	G	A80494888G	PTPRQ	NM_001145026.2(PTPRQ):c.1541-45A>G	noncoding	Benign
12	80494922	A	G	A80494922G	PTPRQ	NM_001145026.2(PTPRQ):c.1541-11A>G	noncoding	Benign
12	80495544	C	T	C80495544T	PTPRQ	NM_001145026.2(PTPRQ):c.1882+173C>T	noncoding	Benign
12	80495660	T	C	T80495660C	PTPRQ	NM_001145026.2(PTPRQ):c.1882+289T>C	noncoding	Benign
12	80495833	G	A	G80495833A	PTPRQ	NM_001145026.2(PTPRQ):c.1883-166G>A	noncoding	Benign
12	80496084	C	A	C80496084A	PTPRQ	NM_001145026.2(PTPRQ):c.1968C>A:p.Ile656=	coding	Benign
12	80496648	A	G	A80496648G	PTPRQ	NM_001145026.2(PTPRQ):c.2272+117A>G	noncoding	Benign
12	80505865	G	A	G80505865A	PTPRQ	NM_001145026.2(PTPRQ):c.2273-159G>A	noncoding	Benign
12	80505906	G	A	G80505906A	PTPRQ	NM_001145026.2(PTPRQ):c.2273-118G>A	noncoding	Benign
12	80505942	T	C	T80505942C	PTPRQ	NM_001145026.2(PTPRQ):c.2273-82T>C	noncoding	Benign
12	80506122	C	A	C80506122A	PTPRQ	NM_001145026.2(PTPRQ):c.2371C>A:p.Gln791Lys	coding	Benign
12	80506279	T	C	T80506279C	PTPRQ	NM_001145026.2(PTPRQ):c.2455+73T>C	noncoding	Benign
12	80506556	G	T	G80506556T	PTPRQ	NM_001145026.2(PTPRQ):c.2456-13G>T	noncoding	Benign
12	80506569	T	G	T80506569G	PTPRQ	NM_001145026.2(PTPRQ):c.2456T>G:p.Val819Gly	coding	Benign
12	80506618	C	G	C80506618G	PTPRQ	NM_001145026.2(PTPRQ):c.2505C>G:p.Leu835=	coding	Benign
12	80506716	C	T	C80506716T	PTPRQ	NM_001145026.2(PTPRQ):c.2557+46C>T	noncoding	Benign
12	80510364	T	C	T80510364C	PTPRQ	NM_001145026.2(PTPRQ):c.2599T>C:p.Ser867Pro	coding	Benign
12	80510546	C	T	C80510546T	PTPRQ	NM_001145026.2(PTPRQ):c.2678+103C>T	noncoding	Benign
12	80533756	T	C	T80533756C	PTPRQ	NM_001145026.2(PTPRQ):c.2679-259T>C	noncoding	Benign
12	80534778	T	A	T80534778A	PTPRQ	NM_001145026.2(PTPRQ):c.2840-114T>A	noncoding	Benign
12	80535167	C	T	C80535167T	PTPRQ	NM_001145026.2(PTPRQ):c.2985+130C>T	noncoding	Benign
12	80535217	C	G	C80535217G	PTPRQ	NM_001145026.2(PTPRQ):c.2985+180C>G	noncoding	Benign
12	80539686	G	A	G80539686A	PTPRQ	NM_001145026.2(PTPRQ):c.2986-90G>A	noncoding	Benign
12	80539783	C	T	C80539783T	PTPRQ	NM_001145026.2(PTPRQ):c.2993C>T:p.Thr998Ile	coding	Benign
12	80539955	A	G	A80539955G	PTPRQ	NM_001145026.2(PTPRQ):c.3154+11A>G	noncoding	Benign
12	80540006	A	C	A80540006C	PTPRQ	NM_001145026.2(PTPRQ):c.3154+62A>C	noncoding	Benign
12	80540143	G	A	G80540143A	PTPRQ	NM_001145026.2(PTPRQ):c.3154+199G>A	noncoding	Benign
12	80541240	C	T	C80541240T	PTPRQ	NM_001145026.2(PTPRQ):c.3155-315C>T	noncoding	Benign
12	80541521	A	T	A80541521T	PTPRQ	NM_001145026.2(PTPRQ):c.3155-34A>T	noncoding	Benign
12	80541566	T	C	T80541566C	PTPRQ	NM_001145026.2(PTPRQ):c.3166T>C:p.Phe1056Leu	coding	Benign
12	80541586	C	T	C80541586T	PTPRQ	NM_001145026.2(PTPRQ):c.3186C>T:p.Tyr1062=	coding	Benign
12	80541660	A	G	A80541660G	PTPRQ	NM_001145026.2(PTPRQ):c.3260A>G:p.Tyr1087Cys	coding	Benign
12	80542247	A	G	A80542247G	PTPRQ	NM_001145026.2(PTPRQ):c.3604A>G:p.Asn1202Asp	coding	Benign
12	80542303	C	T	C80542303T	PTPRQ	NM_001145026.2(PTPRQ):c.3660C>T:p.Ala1220=	coding	Benign
12	80543056	A	G	A80543056G	PTPRQ	NM_001145026.2(PTPRQ):c.3873+175A>G	noncoding	Benign
12	80546452	A	G	A80546452G	PTPRQ	NM_001145026.2(PTPRQ):c.3874-104A>G	noncoding	Benign
12	80546830	C	T	C80546830T	PTPRQ	NM_001145026.2(PTPRQ):c.4015+133C>T	noncoding	Benign
12	80549656	G	A	G80549656A	PTPRQ	NM_001145026.2(PTPRQ):c.4207G>A:p.Val1403Ile	coding	Benign
12	80549801	C	T	C80549801T	PTPRQ	NM_001145026.2(PTPRQ):c.4285+67C>T	noncoding	Benign
12	80549890	A	G	A80549890G	PTPRQ	NM_001145026.2(PTPRQ):c.4285+156A>G	noncoding	Benign
12	80605430	G	A	G80605430A	PTPRQ	NM_001145026.2(PTPRQ):c.4731+250G>A	noncoding	Benign
12	80610577	G	T	G80610577T	PTPRQ	NM_001145026.2(PTPRQ):c.4870G>T:p.Val1624Leu	coding	Benign
12	80610764	T	C	T80610764C	PTPRQ	NM_001145026.2(PTPRQ):c.4918+139T>C	noncoding	Benign
12	80613360	T	C	T80613360C	PTPRQ	NM_001145026.2(PTPRQ):c.4919-232T>C	noncoding	Benign
12	80613920	A	G	A80613920G	PTPRQ	NM_001145026.2(PTPRQ):c.5163+84A>G	noncoding	Benign
12	80614125	A	T	A80614125T	PTPRQ	NM_001145026.2(PTPRQ):c.5163+289A>T	noncoding	Benign
12	80615908	C	T	C80615908T	PTPRQ	NM_001145026.2(PTPRQ):c.5164-292C>T	noncoding	Benign
12	80616142	T	C	T80616142C	PTPRQ	NM_001145026.2(PTPRQ):c.5164-58T>C	noncoding	Benign
12	80616232	A	C	A80616232C	PTPRQ	NM_001145026.2(PTPRQ):c.5196A>C:p.Pro1732=	coding	Benign
12	80619109	G	A	G80619109A	PTPRQ	NM_001145026.2(PTPRQ):c.5231-275G>A	noncoding	Benign
12	80619269	A	G	A80619269G	PTPRQ	NM_001145026.2(PTPRQ):c.5231-115A>G	noncoding	Benign
12	80619760	T	G	T80619760G	PTPRQ	NM_001145026.2(PTPRQ):c.5389+218T>G	noncoding	Benign
12	80620157	A	C	A80620157C	PTPRQ	NM_001145026.2(PTPRQ):c.5393A>C:p.Gln1798Pro	coding	Benign
12	80620495	G	A	G80620495A	PTPRQ	NM_001145026.2(PTPRQ):c.5612+119G>A	noncoding	Benign
12	80620579	G	A	G80620579A	PTPRQ	NM_001145026.2(PTPRQ):c.5612+203G>A	noncoding	Benign
12	80621964	G	T	G80621964T	PTPRQ	NM_001145026.2(PTPRQ):c.5613-97G>T	noncoding	Benign
12	80631928	C	T	C80631928T	PTPRQ	NM_001145026.2(PTPRQ):c.5687-264C>T	noncoding	Benign
12	80632192	G	C	G80632192C	PTPRQ	NM_001145026.2(PTPRQ):c.5687G>C:p.Gly1896Ala	coding	Benign
12	80632526	A	G	A80632526G	PTPRQ	NM_001145026.2(PTPRQ):c.5786+235A>G	noncoding	Benign
12	80634613	A	G	A80634613G	PTPRQ	NM_001145026.2(PTPRQ):c.5787-332A>G	noncoding	Benign
12	80635034	C	G	C80635034G	PTPRQ	NM_001145026.2(PTPRQ):c.5876C>G:p.Thr1959Arg	coding	Pathogenic
12	80635059	C	T	C80635059T	PTPRQ	NM_001145026.2(PTPRQ):c.5901C>T:p.Asp1967=	coding	Benign
12	80649205	C	G	C80649205G	PTPRQ	NM_001145026.2(PTPRQ):c.5942+282C>G	noncoding	Benign
12	80649324	A	T	A80649324T	PTPRQ	NM_001145026.2(PTPRQ):c.5943-264A>T	noncoding	Benign
12	80649582	T	C	T80649582C	PTPRQ	NM_001145026.2(PTPRQ):c.5943-6T>C	noncoding	Benign
12	80652460	T	C	T80652460C	PTPRQ	NM_001145026.2(PTPRQ):c.6025-284T>C	noncoding	Benign
12	80652494	G	C	G80652494C	PTPRQ	NM_001145026.2(PTPRQ):c.6025-250G>C	noncoding	Benign
12	80652619	T	A	T80652619A	PTPRQ	NM_001145026.2(PTPRQ):c.6025-125T>A	noncoding	Benign
12	80653070	T	C	T80653070C	PTPRQ	NM_001145026.2(PTPRQ):c.6115+236T>C	noncoding	Benign
12	80657845	A	G	A80657845G	PTPRQ	NM_001145026.2(PTPRQ):c.6116-140A>G	noncoding	Benign
12	80658191	G	A	G80658191A	PTPRQ	NM_001145026.2(PTPRQ):c.6192+130G>A	noncoding	Benign
12	80658208	T	C	T80658208C	PTPRQ	NM_001145026.2(PTPRQ):c.6192+147T>C	noncoding	Benign
12	80668679	A	G	A80668679G	PTPRQ	NM_001145026.2(PTPRQ):c.6193-328A>G	noncoding	Benign
12	80668736	C	G	C80668736G	PTPRQ	NM_001145026.2(PTPRQ):c.6193-271C>G	noncoding	Benign
12	80668942	A	T	A80668942T	PTPRQ	NM_001145026.2(PTPRQ):c.6193-65A>T	noncoding	Benign
12	80669179	C	T	C80669179T	PTPRQ	NM_001145026.2(PTPRQ):c.6327+38C>T	noncoding	Benign
12	80669238	G	T	G80669238T	PTPRQ	NM_001145026.2(PTPRQ):c.6327+97G>T	noncoding	Benign
12	80669374	G	T	G80669374T	PTPRQ	NM_001145026.2(PTPRQ):c.6363G>T:p.Lys2121Asn	coding	Benign
12	80669485	C	T	C80669485T	PTPRQ	NM_001145026.2(PTPRQ):c.6453+21C>T	noncoding	Benign
12	80669568	G	A	G80669568A	PTPRQ	NM_001145026.2(PTPRQ):c.6453+104G>A	noncoding	Benign
12	80670159	T	G	T80670159G	PTPRQ	NM_001145026.2(PTPRQ):c.6454-185T>G	noncoding	Benign
12	80670446	C	T	C80670446T	PTPRQ	NM_001145026.2(PTPRQ):c.6556C>T:p.Arg2186Ter	coding	Pathogenic
12	80673072	A	G	A80673072G	PTPRQ	NM_001145026.2(PTPRQ):c.6603-97A>G	noncoding	Benign
12	80673197	A	G	A80673197G	PTPRQ	NM_001145026.2(PTPRQ):c.6631A>G:p.Ile2211Val	coding	Benign
12	80673559	C	A	C80673559A	PTPRQ	NM_001145026.2(PTPRQ):c.6738+255C>A	noncoding	Benign
12	80679202	A	C	A80679202C	PTPRQ	NM_001145026.2(PTPRQ):c.*179A>C	noncoding	Benign
12	80707444	T	C	T80707444C	MYF6	Single_allele	noncoding	Benign
12	80707472	C	T	C80707472T	MYF6	Single_allele	noncoding	Benign
12	80708011	G	T	G80708011T	MYF6	NM_002469.3(MYF6):c.292G>T:p.Ala98Ser	coding	Benign
12	80709112	C	A	C80709112A	MYF6	NM_002469.3(MYF6):c.*152C>A	noncoding	Benign/Likely_benign
12	85280680	C	A	C85280680A	ALX1	NM_006982.3(ALX1):c.226+193C>A	noncoding	Benign
12	88049300	C	A	C88049300A	CEP290	NM_025114.4(CEP290):c.7324G>T:p.Glu2442Ter	coding	Pathogenic
12	88049337	A	T	A88049337T	CEP290	NM_025114.4(CEP290):c.7287T>A:p.Tyr2429Ter	coding	Pathogenic
12	88049360	C	A	C88049360A	CEP290	NM_025114.4(CEP290):c.7264G>T:p.Glu2422Ter	coding	Pathogenic
12	88050562	T	C	T88050562C	CEP290	NM_025114.4(CEP290):c.7130-129A>G	noncoding	Benign
12	88053733	G	A	G88053733A	CEP290	NM_025114.4(CEP290):c.7048C>T:p.Gln2350Ter	coding	Pathogenic/Likely_pathogenic
12	88053886	A	G	A88053886G	CEP290	NM_025114.4(CEP290):c.7035-140T>C	noncoding	Benign
12	88054068	G	T	G88054068T	CEP290	NM_025114.4(CEP290):c.7034+272C>A	noncoding	Benign
12	88054380	C	A	C88054380A	CEP290	NM_025114.4(CEP290):c.6994G>T:p.Glu2332Ter	coding	Pathogenic
12	88055512	T	C	T88055512C	CEP290	NM_025114.4(CEP290):c.6960+64A>G	noncoding	Benign
12	88055695	C	A	C88055695A	CEP290	NM_025114.4(CEP290):c.6841G>T:p.Glu2281Ter	coding	Pathogenic
12	88058897	G	A	G88058897A	CEP290	NM_025114.4(CEP290):c.6769C>T:p.Gln2257Ter	coding	Pathogenic
12	88058963	C	A	C88058963A	CEP290	NM_025114.4(CEP290):c.6703G>T:p.Glu2235Ter	coding	Pathogenic
12	88059036	A	G	A88059036G	CEP290	NM_025114.4(CEP290):c.6646-16T>C	noncoding	Benign/Likely_benign
12	88059295	A	G	A88059295G	CEP290	NM_025114.4(CEP290):c.6646-275T>C	noncoding	Benign
12	88059714	A	T	A88059714T	CEP290	NM_025114.4(CEP290):c.6645+184T>A	noncoding	Benign
12	88059831	C	T	C88059831T	CEP290	NM_025114.4(CEP290):c.6645+67G>A	noncoding	Benign
12	88060913	C	A	C88060913A	CEP290	NM_025114.4(CEP290):c.6439G>T:p.Glu2147Ter	coding	Pathogenic
12	88064064	T	A	T88064064A	CEP290	NM_025114.4(CEP290):c.6187A>T:p.Lys2063Ter	coding	Pathogenic
12	88071343	C	A	C88071343A	CEP290	NM_025114.4(CEP290):c.5962G>T:p.Glu1988Ter	coding	Pathogenic
12	88071364	C	A	C88071364A	CEP290	NM_025114.4(CEP290):c.5941G>T:p.Glu1981Ter	coding	Pathogenic
12	88071782	T	A	T88071782A	CEP290	NM_025114.4(CEP290):c.5854A>T:p.Lys1952Ter	coding	Pathogenic
12	88071859	C	G	C88071859G	CEP290	NM_025114.4(CEP290):c.5777G>C:p.Arg1926Pro	coding	Pathogenic/Likely_pathogenic
12	88071900	C	T	C88071900T	CEP290	NM_025114.4(CEP290):c.5736G>A:p.Trp1912Ter	coding	Pathogenic
12	88077299	G	A	G88077299A	CEP290	NM_025114.4(CEP290):c.5632C>T:p.Gln1878Ter	coding	Pathogenic
12	88077442	T	C	T88077442C	CEP290	NM_025114.4(CEP290):c.5587-98A>G	noncoding	Benign
12	88077762	C	T	C88077762T	CEP290	NM_025114.4(CEP290):c.5521G>A:p.Glu1841Lys	coding	Benign/Likely_benign
12	88080048	A	G	A88080048G	CEP290	NM_025114.4(CEP290):c.5226+134T>C	noncoding	Benign
12	88080163	A	G	A88080163G	CEP290	NM_025114.4(CEP290):c.5226+19T>C	noncoding	Benign
12	88080211	G	A	G88080211A	CEP290	NM_025114.4(CEP290):c.5197C>T:p.Gln1733Ter	coding	Pathogenic
12	88083098	G	A	G88083098A	CEP290	NM_025114.4(CEP290):c.4945C>T:p.Gln1649Ter	coding	Pathogenic
12	88083218	G	A	G88083218A	CEP290	NM_025114.4(CEP290):c.4825C>T:p.Gln1609Ter	coding	Pathogenic
12	88083232	T	C	T88083232C	CEP290	NM_025114.4(CEP290):c.4813-2A>G	noncoding	Pathogenic/Likely_pathogenic
12	88083875	G	C	G88083875C	CEP290	NM_025114.4(CEP290):c.4784C>G:p.Ser1595Ter	coding	Pathogenic
12	88083896	A	C	A88083896C	CEP290	NM_025114.4(CEP290):c.4763T>G:p.Leu1588Ter	coding	Pathogenic
12	88083954	C	A	C88083954A	CEP290	NM_025114.4(CEP290):c.4705G>T:p.Glu1569Ter	coding	Pathogenic
12	88084613	A	C	A88084613C	CEP290	NM_025114.4(CEP290):c.4677T>G:p.Tyr1559Ter	coding	Pathogenic
12	88084639	G	A	G88084639A	CEP290	NM_025114.4(CEP290):c.4651C>T:p.Gln1551Ter	coding	Pathogenic
12	88086499	C	A	C88086499A	CEP290	NM_025114.4(CEP290):c.4195-1G>T	coding	Pathogenic
12	88087884	C	A	C88087884A	CEP290	NM_025114.4(CEP290):c.4090G>T:p.Glu1364Ter	coding	Pathogenic
12	88087933	C	T	C88087933T	CEP290	NM_025114.4(CEP290):c.4041G>A:p.Trp1347Ter	coding	Pathogenic
12	88089127	T	A	T88089127A	CEP290	NM_025114.4(CEP290):c.3934A>T:p.Arg1312Ter	coding	Pathogenic
12	88089136	G	A	G88089136A	CEP290	NM_025114.4(CEP290):c.3925C>T:p.Gln1309Ter	coding	Pathogenic
12	88089139	G	A	G88089139A	CEP290	NM_025114.4(CEP290):c.3922C>T:p.Gln1308Ter	coding	Pathogenic
12	88089214	G	A	G88089214A	CEP290	NM_025114.4(CEP290):c.3847C>T:p.Gln1283Ter	coding	Pathogenic
12	88089331	C	A	C88089331A	CEP290	NM_025114.4(CEP290):c.3730G>T:p.Glu1244Ter	coding	Pathogenic
12	88090727	C	A	C88090727A	CEP290	NM_025114.4(CEP290):c.3573+1G>T	noncoding	Pathogenic
12	88090808	G	A	G88090808A	CEP290	NM_025114.4(CEP290):c.3493C>T:p.Gln1165Ter	coding	Pathogenic
12	88092808	G	A	G88092808A	CEP290	NM_025114.4(CEP290):c.3334C>T:p.Gln1112Ter	coding	Pathogenic
12	88092834	T	C	T88092834C	CEP290	NM_025114.4(CEP290):c.3310-2A>G	noncoding	Pathogenic
12	88093874	C	A	C88093874A	CEP290	NM_025114.4(CEP290):c.3205G>T:p.Glu1069Ter	coding	Pathogenic
12	88096969	C	A	C88096969A	CEP290	NM_025114.4(CEP290):c.3022G>T:p.Glu1008Ter	coding	Pathogenic
12	88096978	C	A	C88096978A	CEP290	NM_025114.4(CEP290):c.3013G>T:p.Glu1005Ter	coding	Pathogenic
12	88102633	A	G	A88102633G	CEP290	NM_025114.4(CEP290):c.2991+205T>C	noncoding	Benign
12	88102927	G	A	G88102927A	CEP290	NM_025114.4(CEP290):c.2902C>T:p.Gln968Ter	coding	Pathogenic
12	88102942	C	A	C88102942A	CEP290	NM_025114.4(CEP290):c.2887G>T:p.Glu963Ter	coding	Pathogenic
12	88106924	A	G	A88106924G	CEP290	NM_025114.4(CEP290):c.2587-19T>C	noncoding	Benign/Likely_benign
12	88107025	G	A	G88107025A	CEP290	NM_025114.4(CEP290):c.2557C>T:p.Gln853Ter	coding	Pathogenic
12	88109182	C	A	C88109182A	CEP290	NM_025114.4(CEP290):c.2368-1G>T	coding	Pathogenic
12	88111315	G	A	G88111315A	CEP290	NM_025114.4(CEP290):c.2254C>T:p.Gln752Ter	coding	Pathogenic
12	88111771	C	A	C88111771A	CEP290	NM_025114.4(CEP290):c.2140G>T:p.Glu714Ter	coding	Pathogenic
12	88114152	T	C	T88114152C	CEP290	NM_025114.4(CEP290):c.2052+268A>G	noncoding	Benign
12	88114485	T	A	T88114485A	CEP290	NM_025114.4(CEP290):c.1987A>T:p.Lys663Ter	coding	Pathogenic
12	88114769	C	T	C88114769T	CEP290	NM_025114.4(CEP290):c.1910-207G>A	noncoding	Benign
12	88116665	A	C	A88116665C	CEP290	NM_025114.4(CEP290):c.1824+368T>G	noncoding	Benign
12	88117059	T	A	T88117059A	CEP290	NM_025114.4(CEP290):c.1798A>T:p.Lys600Ter	coding	Pathogenic
12	88118485	G	C	G88118485C	CEP290	NM_025114.4(CEP290):c.1709C>G:p.Ser570Ter	coding	Pathogenic
12	88118660	G	A	G88118660A	CEP290	NM_025114.4(CEP290):c.1606C>T:p.Gln536Ter	coding	Pathogenic/Likely_pathogenic
12	88120231	T	A	T88120231A	CEP290	NM_025114.4(CEP290):c.1405A>T:p.Lys469Ter	coding	Pathogenic
12	88120341	T	A	T88120341A	CEP290	NM_025114.4(CEP290):c.1360-65A>T	noncoding	Benign
12	88121038	C	A	C88121038A	CEP290	NM_025114.4(CEP290):c.1318G>T:p.Glu440Ter	coding	Pathogenic
12	88121109	A	C	A88121109C	CEP290	NM_025114.4(CEP290):c.1247T>G:p.Leu416Ter	coding	Pathogenic
12	88121168	T	C	T88121168C	CEP290	NM_025114.4(CEP290):c.1190-2A>G	noncoding	Pathogenic/Likely_pathogenic
12	88124989	T	G	T88124989G	CEP290	NM_025114.4(CEP290):c.1189+257A>C	noncoding	Benign
12	88125155	A	G	A88125155G	CEP290	NM_025114.4(CEP290):c.1189+91T>C	noncoding	Benign
12	88125270	T	A	T88125270A	CEP290	NM_025114.4(CEP290):c.1165A>T:p.Lys389Ter	coding	Pathogenic
12	88125569	T	C	T88125569C	CEP290	NM_025114.4(CEP290):c.1066-200A>G	noncoding	Benign
12	88126321	G	A	G88126321A	CEP290	NM_025114.4(CEP290):c.1060C>T:p.Gln354Ter	coding	Pathogenic
12	88126396	G	A	G88126396A	CEP290	NM_025114.4(CEP290):c.985C>T:p.Gln329Ter	coding	Pathogenic
12	88126651	C	T	C88126651T	CEP290	NM_025114.4(CEP290):c.943-213G>A	noncoding	Benign
12	88128918	A	G	A88128918G	CEP290	NM_025114.4(CEP290):c.942+28T>C	noncoding	Benign/Likely_benign
12	88129621	T	C	T88129621C	CEP290	NM_025114.4(CEP290):c.852+73A>G	noncoding	Benign
12	88129717	C	A	C88129717A	CEP290	NM_025114.4(CEP290):c.829G>T:p.Glu277Ter	coding	Pathogenic/Likely_pathogenic
12	88129804	G	A	G88129804A	CEP290	NM_025114.4(CEP290):c.742C>T:p.Gln248Ter	coding	Pathogenic
12	88129816	C	A	C88129816A	CEP290	NM_025114.4(CEP290):c.730G>T:p.Glu244Ter	coding	Pathogenic
12	88129834	C	A	C88129834A	CEP290	NM_025114.4(CEP290):c.712G>T:p.Glu238Ter	coding	Pathogenic
12	88130276	C	A	C88130276A	CEP290	NM_025114.4(CEP290):c.661G>T:p.Glu221Ter	coding	Pathogenic
12	88130309	T	A	T88130309A	CEP290	NM_025114.4(CEP290):c.628A>T:p.Lys210Ter	coding	Pathogenic/Likely_pathogenic
12	88130405	G	A	G88130405A	CEP290	NM_025114.4(CEP290):c.532C>T:p.Gln178Ter	coding	Pathogenic
12	88136723	C	A	C88136723A	CEP290	NM_025114.4(CEP290):c.361G>T:p.Glu121Ter	coding	Pathogenic
12	88136729	G	A	G88136729A	CEP290	NM_025114.4(CEP290):c.355C>T:p.Gln119Ter	coding	Pathogenic
12	88136777	G	A	G88136777A	CEP290	NM_025114.4(CEP290):c.307C>T:p.Gln103Ter	coding	Pathogenic
12	88139143	A	G	A88139143G	CEP290	NM_025114.4(CEP290):c.297+2T>C	noncoding	Pathogenic
12	88139555	G	A	G88139555A	CEP290	NM_025114.4(CEP290):c.190C>T:p.Gln64Ter	coding	Pathogenic
12	88140954	A	T	A88140954T	CEP290	NM_025114.4(CEP290):c.180+2T>A	noncoding	Pathogenic/Likely_pathogenic
12	88141305	C	T	C88141305T	CEP290	NM_025114.4(CEP290):c.3G>A:p.Met1Ile	coding	Pathogenic
12	88141799	G	A	G88141799A	CEP290	NM_025114.4(CEP290):c.-28+101C>T	noncoding	Benign
12	88148143	C	T	C88148143T	TMTC3	NM_181783.4(TMTC3):c.-28-145C>T	noncoding	Benign
12	88153205	A	G	A88153205G	TMTC3	NM_181783.4(TMTC3):c.190-86A>G	noncoding	Benign
12	88154231	A	G	A88154231G	TMTC3	NM_181783.4(TMTC3):c.409-57A>G	noncoding	Benign
12	88159918	A	C	A88159918C	TMTC3	NM_181783.4(TMTC3):c.509-196A>C	noncoding	Benign
12	88160146	G	A	G88160146A	TMTC3	NM_181783.4(TMTC3):c.541G>A:p.Val181Met	coding	Benign
12	88160968	A	C	A88160968C	TMTC3	NM_181783.4(TMTC3):c.797+117A>C	noncoding	Benign
12	88172557	A	T	A88172557T	TMTC3	NM_181783.4(TMTC3):c.1051-40A>T	noncoding	Benign
12	88176106	C	T	C88176106T	TMTC3	NM_181783.4(TMTC3):c.1321-102C>T	noncoding	Benign
12	88188826	T	G	T88188826G	TMTC3	NM_181783.4(TMTC3):c.1433-17T>G	noncoding	Benign
12	88192980	A	G	A88192980G	TMTC3	NM_181783.4(TMTC3):c.1933+150A>G	noncoding	Benign
12	88194870	C	T	C88194870T	TMTC3	NM_181783.4(TMTC3):c.1966C>T:p.Arg656Ter	coding	Pathogenic
12	88195330	G	A	G88195330A	TMTC3	NM_181783.4(TMTC3):c.2426G>A:p.Arg809His	coding	Benign
12	88506469	G	T	G88506469T	KITLG	NM_000899.5(KITLG):c.715-91C>A	noncoding	Benign
12	88516411	A	G	A88516411G	KITLG	NM_000899.5(KITLG):c.443T>C:p.Ile148Thr	coding	Pathogenic
12	88516530	C	T	C88516530T	KITLG	NM_000899.5(KITLG):c.364-40G>A	noncoding	Benign
12	88516693	G	T	G88516693T	KITLG	NM_000899.5(KITLG):c.364-203C>A	noncoding	Benign
12	88518681	A	T	A88518681T	KITLG	NM_000899.5(KITLG):c.363+16T>A	noncoding	Benign
12	88532295	C	T	C88532295T	KITLG	NM_000899.5(KITLG):c.192+146G>A	noncoding	Benign
12	88532525	T	A	T88532525A	KITLG	NM_000899.5(KITLG):c.130-22A>T	noncoding	Benign
12	88545730	C	T	C88545730T	KITLG	NM_000899.5(KITLG):c.129+22G>A	noncoding	Benign
12	88545787	G	A	G88545787A	KITLG	NM_000899.5(KITLG):c.94C>T:p.Arg32Cys	coding	Pathogenic
12	88546002	C	T	C88546002T	KITLG	NM_000899.5(KITLG):c.16-137G>A	noncoding	Benign
12	88546013	T	C	T88546013C	KITLG	NM_000899.5(KITLG):c.16-148A>G	noncoding	Benign
12	88580488	C	A	C88580488A	KITLG	Single_allele	noncoding	Benign
12	89348954	T	C	T89348954C	DUSP6	NM_001946.4(DUSP6):c.*300A>G	noncoding	Benign
12	89349812	G	A	G89349812A	DUSP6	NM_001946.4(DUSP6):c.839-251C>T	noncoding	Benign
12	89349837	A	G	A89349837G	DUSP6	NM_001946.4(DUSP6):c.839-276T>C	noncoding	Benign
12	89349860	G	A	G89349860A	DUSP6	NM_001946.4(DUSP6):c.839-299C>T	noncoding	Benign
12	89350469	T	G	T89350469G	DUSP6	NM_001946.4(DUSP6):c.838+119A>C	noncoding	Benign
12	89350996	A	C	A89350996C	DUSP6	NM_001946.4(DUSP6):c.430T>G:p.Ser144Ala	coding	Benign
12	89351049	A	G	A89351049G	DUSP6	NM_001946.4(DUSP6):c.401-24T>C	noncoding	Benign
12	89351138	A	T	A89351138T	DUSP6	NM_001946.4(DUSP6):c.401-113T>A	noncoding	Benign
12	89351239	C	T	C89351239T	DUSP6	NM_001946.4(DUSP6):c.401-214G>A	noncoding	Benign
12	89351342	T	C	T89351342C	DUSP6	NM_001946.4(DUSP6):c.400+298A>G	noncoding	Benign
12	89351409	A	G	A89351409G	DUSP6	NM_001946.4(DUSP6):c.400+231T>C	noncoding	Benign
12	89351780	G	A	G89351780A	DUSP6	NM_001946.4(DUSP6):c.260C>T:p.Thr87Ile	coding	Benign
12	89425389	C	T	C89425389T	POC1B	NM_172240.3(POC1B):c.1114-10G>A	noncoding	Benign/Likely_benign
12	89466915	A	C	A89466915C	POC1B	NM_172240.3(POC1B):c.887T>G:p.Leu296Ter	coding	Pathogenic
12	89467606	G	C	G89467606C	POC1B	NM_172240.3(POC1B):c.879+11C>G	noncoding	Benign
12	89467752	T	C	T89467752C	POC1B	NM_172240.3(POC1B):c.811-67A>G	noncoding	Benign
12	89470270	C	T	C89470270T	POC1B	NM_172240.3(POC1B):c.810+91G>A	noncoding	Benign
12	89472215	C	T	C89472215T	POC1B	NM_172240.3(POC1B):c.513G>A:p.Trp171Ter	coding	Pathogenic
12	89492071	C	T	C89492071T	POC1B	NM_172240.3(POC1B):c.317G>A:p.Arg106Gln	coding	Benign
12	89492072	G	A	G89492072A	POC1B	NM_172240.3(POC1B):c.316C>T:p.Arg106Ter	coding	Pathogenic
12	89492146	C	A	C89492146A	POC1B	NM_172240.3(POC1B):c.273-31G>T	noncoding	Benign
12	89492165	T	C	T89492165C	POC1B	NM_172240.3(POC1B):c.273-50A>G	noncoding	Benign
12	89497345	A	C	A89497345C	POC1B	NM_172240.3(POC1B):c.101-3T>G	noncoding	Pathogenic
12	89497354	T	C	T89497354C	POC1B	NM_172240.3(POC1B):c.101-12A>G	noncoding	Benign
12	89525791	C	T	C89525791T	POC1B	NM_172240.3(POC1B):c.15+90G>A	noncoding	Benign
12	89604157	G	A	G89604157A	ATP2B1	NM_001366521.1(ATP2B1):c.2632C>T:p.Gln878Ter	coding	Pathogenic
12	89604219	T	C	T89604219C	ATP2B1	NM_001366521.1(ATP2B1):c.2570A>G:p.Gln857Arg	coding	Pathogenic
12	91051526	G	A	G91051526A	KERA	NM_007035.4(KERA):c.887-8C>T	noncoding	Benign
12	91056207	C	T	C91056207T	KERA	NM_007035.4(KERA):c.75G>A:p.Gln25=	coding	Benign
12	91056213	C	T	C91056213T	KERA	NM_007035.4(KERA):c.69G>A:p.Val23=	coding	Benign
12	91104422	C	T	C91104422T	LUM	NM_002345.4(LUM):c.863-103G>A	noncoding	Benign
12	91104522	T	A	T91104522A	LUM	NM_002345.4(LUM):c.863-203A>T	noncoding	Benign
12	91108473	A	G	A91108473G	LUM	NM_002345.4(LUM):c.507T>C:p.Asn169=	coding	Benign
12	93678877	A	G	A93678877G	CRADD	NM_003805.5(CRADD):c.103A>G:p.Ile35Val	coding	Benign
12	93738037	G	A	G93738037A	CRADD	NM_003805.5(CRADD):c.298+58965G>A	noncoding	Benign
12	93738281	G	T	G93738281T	CRADD	NM_003805.5(CRADD):c.298+59209G>T	noncoding	Benign
12	93738284	T	C	T93738284C	CRADD	NM_003805.5(CRADD):c.298+59212T>C	noncoding	Benign
12	93738410	T	A	T93738410A	CRADD	NM_003805.5(CRADD):c.298+59338T>A	noncoding	Benign
12	93849895	C	T	C93849895T	CRADD	NM_003805.5(CRADD):c.299-75C>T	noncoding	Benign
12	93850077	C	T	C93850077T	CRADD	NM_003805.5(CRADD):c.406C>T:p.Leu136=	coding	Benign
12	94309161	A	T	A94309161T	CEP83	NM_016122.3(CEP83):c.2002-244T>A	noncoding	Benign
12	94309634	T	G	T94309634G	CEP83	NM_016122.3(CEP83):c.2001+284A>C	noncoding	Benign
12	94310052	G	A	G94310052A	CEP83	NM_016122.3(CEP83):c.1867C>T:p.Gln623Ter	coding	Pathogenic
12	94331786	T	A	T94331786A	CEP83	NM_016122.3(CEP83):c.1621A>T:p.Lys541Ter	coding	Pathogenic
12	94333528	G	A	G94333528A	CEP83	NM_016122.3(CEP83):c.1531C>T:p.Arg511Ter	coding	Pathogenic
12	94333608	G	T	G94333608T	CEP83	NM_016122.3(CEP83):c.1451C>A:p.Ser484Ter	coding	Pathogenic
12	94335469	T	A	T94335469A	CEP83	NM_016122.3(CEP83):c.1419+120A>T	noncoding	Benign
12	94335510	A	T	A94335510T	CEP83	NM_016122.3(CEP83):c.1419+79T>A	noncoding	Benign
12	94335801	C	T	C94335801T	CEP83	NM_016122.3(CEP83):c.1344-137G>A	noncoding	Benign
12	94335810	G	A	G94335810A	CEP83	NM_016122.3(CEP83):c.1344-146C>T	noncoding	Benign
12	94335889	A	G	A94335889G	CEP83	NM_016122.3(CEP83):c.1344-225T>C	noncoding	Benign
12	94335904	T	C	T94335904C	CEP83	NM_016122.3(CEP83):c.1344-240A>G	noncoding	Benign
12	94335922	C	T	C94335922T	CEP83	NM_016122.3(CEP83):c.1344-258G>A	noncoding	Benign
12	94335969	C	G	C94335969G	CEP83	NM_016122.3(CEP83):c.1344-305G>C	noncoding	Benign
12	94367925	T	C	T94367925C	CEP83	NM_016122.3(CEP83):c.1212A>G:p.Arg404=	coding	Benign
12	94368069	A	T	A94368069T	CEP83	NM_016122.3(CEP83):c.1181T>A:p.Leu394Ter	coding	Pathogenic
12	94368085	G	A	G94368085A	CEP83	NM_016122.3(CEP83):c.1165C>T:p.Gln389Ter	coding	Pathogenic
12	94368342	C	A	C94368342A	CEP83	NM_016122.3(CEP83):c.1049-141G>T	noncoding	Benign
12	94370123	C	T	C94370123T	CEP83	NM_016122.3(CEP83):c.934-87G>A	noncoding	Benign
12	94370351	G	A	G94370351A	CEP83	NM_016122.3(CEP83):c.934-315C>T	noncoding	Benign
12	94375982	A	G	A94375982G	CEP83	NM_016122.3(CEP83):c.837T>C:p.Arg279=	coding	Benign
12	94375993	G	A	G94375993A	CEP83	NM_016122.3(CEP83):c.826C>T:p.Arg276Trp	coding	Benign
12	94376169	A	G	A94376169G	CEP83	NM_016122.3(CEP83):c.802-152T>C	noncoding	Benign
12	94376213	A	G	A94376213G	CEP83	NM_016122.3(CEP83):c.802-196T>C	noncoding	Benign
12	94378486	A	G	A94378486G	CEP83	NM_016122.3(CEP83):c.801+305T>C	noncoding	Benign
12	94378806	T	C	T94378806C	CEP83	NM_016122.3(CEP83):c.786A>G:p.Thr262=	coding	Benign
12	94378949	G	A	G94378949A	CEP83	NM_016122.3(CEP83):c.643C>T:p.Arg215Ter	coding	Pathogenic
12	94378966	C	T	C94378966T	CEP83	NM_016122.3(CEP83):c.626G>A:p.Arg209Gln	coding	Benign
12	94400631	C	G	C94400631G	CEP83	NM_016122.3(CEP83):c.549+219G>C	noncoding	Benign
12	94400900	C	A	C94400900A	CEP83	NM_016122.3(CEP83):c.499G>T:p.Glu167Ter	coding	Pathogenic
12	94401025	G	A	G94401025A	CEP83	NM_016122.3(CEP83):c.418-44C>T	noncoding	Benign
12	94403241	C	A	C94403241A	CEP83	NM_016122.3(CEP83):c.346G>T:p.Glu116Ter	coding	Pathogenic
12	94411685	A	T	A94411685T	CEP83	NM_016122.3(CEP83):c.324+12T>A	noncoding	Benign
12	94411959	C	T	C94411959T	CEP83	NM_016122.3(CEP83):c.174-112G>A	noncoding	Benign
12	94411988	C	T	C94411988T	CEP83	NM_016122.3(CEP83):c.174-141G>A	noncoding	Benign
12	94994203	C	T	C94994203T	NDUFA12	NM_018838.5(NDUFA12):c.224G>A:p.Trp75Ter	coding	Pathogenic
12	94994408	C	T	C94994408T	NDUFA12	NM_018838.5(NDUFA12):c.170-151G>A	noncoding	Benign
12	95002462	A	G	A95002462G	NDUFA12	NM_018838.5(NDUFA12):c.169+277T>C	noncoding	Benign
12	95002893	A	T	A95002893T	NDUFA12	NM_018838.5(NDUFA12):c.87-72T>A	noncoding	Benign
12	95003595	C	T	C95003595T	NDUFA12	NM_018838.5(NDUFA12):c.86G>A:p.Arg29Lys	coding	Pathogenic
12	95003668	G	A	G95003668A	NDUFA12	NM_018838.5(NDUFA12):c.13C>T:p.Gln5Ter	coding	Pathogenic
12	95003677	C	A	C95003677A	NDUFA12	NM_018838.5(NDUFA12):c.4G>T:p.Glu2Ter	coding	Pathogenic/Likely_pathogenic
12	95003776	T	C	T95003776C	NDUFA12	Single_allele	noncoding	Benign
12	95003868	G	T	G95003868T	NDUFA12	Single_allele	noncoding	Benign
12	98515880	C	T	C98515880T	TMPO	NM_001032283.3(TMPO):c.13C>T:p.Leu5=	coding	Benign/Likely_benign
12	98527600	A	T	A98527600T	TMPO	NM_001032283.3(TMPO):c.280-286A>T	noncoding	Benign
12	98527877	T	C	T98527877C	TMPO	NM_001032283.3(TMPO):c.280-9T>C	noncoding	Benign
12	98533142	T	A	T98533142A	TMPO	NM_001032283.3(TMPO):c.565+1304T>A	coding	Benign/Likely_benign
12	98533331	A	G	A98533331G	TMPO	NM_001032283.3(TMPO):c.565+1493A>G	coding	Benign/Likely_benign
12	98537186	C	T	C98537186T	TMPO	NM_001032283.3(TMPO):c.566-289C>T	noncoding	Benign
12	98537333	T	C	T98537333C	TMPO	NM_001032283.3(TMPO):c.566-142T>C	noncoding	Benign
12	98537750	T	C	T98537750C	TMPO	NM_001032283.3(TMPO):c.663+178T>C	noncoding	Benign
12	98545342	T	C	T98545342C	TMPO	NM_001032283.3(TMPO):c.990+281T>C	noncoding	Benign
12	98545394	G	A	G98545394A	TMPO	NM_001032283.3(TMPO):c.990+333G>A	noncoding	Benign
12	98546060	C	A	C98546060A	TMPO	NM_001032283.3(TMPO):c.991-299C>A	noncoding	Benign
12	98547445	A	G	A98547445G	TMPO	NM_001032283.3(TMPO):c.1080-128A>G	noncoding	Benign
12	98547859	A	G	A98547859G	TMPO	NM_001032283.3(TMPO):c.*1A>G	coding	Benign/Likely_benign
12	98594376	T	C	T98594376C	SLC25A3	NM_002635.4(SLC25A3):c.157+241T>C	noncoding	Benign
12	98598127	T	C	T98598127C	SLC25A3	NM_002635.4(SLC25A3):c.459+92T>C	noncoding	Benign
12	98598286	C	T	C98598286T	SLC25A3	NM_002635.4(SLC25A3):c.460-236C>T	noncoding	Benign
12	98598533	T	C	T98598533C	SLC25A3	NM_002635.4(SLC25A3):c.471T>C:p.Tyr157=	coding	Benign/Likely_benign
12	98599846	A	G	A98599846G	SLC25A3	NM_002635.4(SLC25A3):c.642-109A>G	coding	Benign
12	98599865	C	T	C98599865T	SLC25A3	NM_002635.4(SLC25A3):c.642-90C>T	coding	Benign
12	100283182	C	A	C100283182A	SCYL2	NM_017988.6(SCYL2):c.177+35C>A	noncoding	Benign
12	100315535	T	A	T100315535A	SCYL2	NM_017988.6(SCYL2):c.1096-23T>A	noncoding	Benign
12	100338549	C	T	C100338549T	SCYL2	NM_017988.6(SCYL2):c.2167C>T:p.Leu723=	coding	Benign
12	100380391	A	G	A100380391G	SLC17A8	NM_139319.3(SLC17A8):c.102-310A>G	noncoding	Benign
12	100380677	C	A	C100380677A	SLC17A8	NM_139319.3(SLC17A8):c.102-24C>A	noncoding	Benign
12	100380969	T	C	T100380969C	SLC17A8	NM_139319.3(SLC17A8):c.354+16T>C	noncoding	Benign/Likely_benign
12	100393069	G	A	G100393069A	SLC17A8	NM_139319.3(SLC17A8):c.474-300G>A	noncoding	Benign
12	100393172	C	T	C100393172T	SLC17A8	NM_139319.3(SLC17A8):c.474-197C>T	noncoding	Benign
12	100393317	T	C	T100393317C	SLC17A8	NM_139319.3(SLC17A8):c.474-52T>C	noncoding	Benign
12	100396074	T	C	T100396074C	SLC17A8	NM_139319.3(SLC17A8):c.589-256T>C	noncoding	Benign
12	100401496	C	T	C100401496T	SLC17A8	NM_139319.3(SLC17A8):c.677-281C>T	noncoding	Benign
12	100401533	A	G	A100401533G	SLC17A8	NM_139319.3(SLC17A8):c.677-244A>G	noncoding	Benign
12	100401921	A	G	A100401921G	SLC17A8	NM_139319.3(SLC17A8):c.763+58A>G	noncoding	Benign
12	100402016	A	G	A100402016G	SLC17A8	NM_139319.3(SLC17A8):c.763+153A>G	noncoding	Benign
12	100403707	A	G	A100403707G	SLC17A8	NM_139319.3(SLC17A8):c.1054-331A>G	noncoding	Benign
12	100412725	C	T	C100412725T	SLC17A8	NM_139319.3(SLC17A8):c.1187-45C>T	noncoding	Benign
12	100417949	C	T	C100417949T	SLC17A8	NM_139319.3(SLC17A8):c.1298-80C>T	noncoding	Benign
12	100417971	A	C	A100417971C	SLC17A8	NM_139319.3(SLC17A8):c.1298-58A>C	noncoding	Benign
12	100418179	T	C	T100418179C	SLC17A8	NM_139319.3(SLC17A8):c.1425+23T>C	noncoding	Benign
12	100419709	A	G	A100419709G	SLC17A8	NM_139319.3(SLC17A8):c.1426-106A>G	noncoding	Benign
12	100493065	G	A	G100493065A	NR1H4	NM_001206979.2(NR1H4):c.-54-205G>A	noncoding	Benign
12	100493068	C	T	C100493068T	NR1H4	NM_001206979.2(NR1H4):c.-54-202C>T	noncoding	Benign
12	100493523	T	C	T100493523C	NR1H4	NM_001206979.2(NR1H4):c.79+121T>C	noncoding	Benign
12	100503438	C	T	C100503438T	NR1H4	NM_001206979.2(NR1H4):c.80-7340C>T	coding	Benign
12	100503453	G	A	G100503453A	NR1H4	NM_001206979.2(NR1H4):c.80-7325G>A	coding	Benign
12	100503631	A	G	A100503631G	NR1H4	NM_001206979.2(NR1H4):c.80-7147A>G	noncoding	Benign
12	100511438	T	G	T100511438G	NR1H4	NM_001206979.2(NR1H4):c.445+295T>G	noncoding	Benign
12	100532796	G	A	G100532796A	NR1H4	NM_001206979.2(NR1H4):c.598+186G>A	noncoding	Benign
12	100536435	C	G	C100536435G	NR1H4	NM_001206979.2(NR1H4):c.733-77C>G	noncoding	Benign
12	100536486	C	T	C100536486T	NR1H4	NM_001206979.2(NR1H4):c.733-26C>T	noncoding	Benign
12	100536917	T	A	T100536917A	NR1H4	NM_001206979.2(NR1H4):c.832-31T>A	noncoding	Benign
12	100541013	A	G	A100541013G	NR1H4	NM_001206979.2(NR1H4):c.1078+195A>G	noncoding	Benign
12	100541067	C	G	C100541067G	NR1H4	NM_001206979.2(NR1H4):c.1078+249C>G	noncoding	Benign
12	100561600	C	G	C100561600G	NR1H4	NM_001206979.2(NR1H4):c.1079-285C>G	noncoding	Benign
12	101594747	C	T	C101594747T	MYBPC1	Single_allele	noncoding	Benign
12	101614325	T	A	T101614325A	MYBPC1	NM_002465.4(MYBPC1):c.26-171T>A	noncoding	Benign
12	101616962	A	C	A101616962C	MYBPC1	NM_002465.4(MYBPC1):c.62-240A>C	noncoding	Benign
12	101617037	T	C	T101617037C	MYBPC1	NM_002465.4(MYBPC1):c.62-165T>C	noncoding	Benign
12	101626668	T	C	T101626668C	MYBPC1	NM_002465.4(MYBPC1):c.104-204T>C	noncoding	Benign
12	101626710	A	T	A101626710T	MYBPC1	NM_002465.4(MYBPC1):c.104-162A>T	noncoding	Benign
12	101627032	G	A	G101627032A	MYBPC1	NM_002465.4(MYBPC1):c.142+122G>A	noncoding	Benign
12	101632286	T	C	T101632286C	MYBPC1	NM_002465.4(MYBPC1):c.556+148T>C	noncoding	Benign
12	101642358	C	T	C101642358T	MYBPC1	NM_002465.4(MYBPC1):c.666-61C>T	noncoding	Benign
12	101642529	T	C	T101642529C	MYBPC1	NM_002465.4(MYBPC1):c.776T>C:p.Leu259Pro	coding	Pathogenic/Likely_pathogenic
12	101644828	T	C	T101644828C	MYBPC1	NM_002465.4(MYBPC1):c.965+32T>C	noncoding	Benign
12	101644849	A	G	A101644849G	MYBPC1	NM_002465.4(MYBPC1):c.965+53A>G	noncoding	Benign
12	101647181	T	C	T101647181C	MYBPC1	NM_002465.4(MYBPC1):c.1090+294T>C	noncoding	Benign
12	101647979	A	G	A101647979G	MYBPC1	NM_002465.4(MYBPC1):c.1091-66A>G	noncoding	Benign
12	101648332	C	T	C101648332T	MYBPC1	NM_002465.4(MYBPC1):c.1196+182C>T	noncoding	Benign
12	101648435	C	G	C101648435G	MYBPC1	NM_002465.4(MYBPC1):c.1196+285C>G	noncoding	Benign
12	101649029	C	T	C101649029T	MYBPC1	NM_002465.4(MYBPC1):c.1197-231C>T	noncoding	Benign
12	101649487	C	T	C101649487T	MYBPC1	NM_002465.4(MYBPC1):c.1363+61C>T	noncoding	Benign
12	101649523	G	A	G101649523A	MYBPC1	NM_002465.4(MYBPC1):c.1363+97G>A	noncoding	Benign
12	101649571	T	A	T101649571A	MYBPC1	NM_002465.4(MYBPC1):c.1363+145T>A	noncoding	Benign
12	101649628	G	A	G101649628A	MYBPC1	NM_002465.4(MYBPC1):c.1363+202G>A	noncoding	Benign
12	101649673	A	G	A101649673G	MYBPC1	NM_002465.4(MYBPC1):c.1363+247A>G	noncoding	Benign
12	101651134	C	T	C101651134T	MYBPC1	NM_002465.4(MYBPC1):c.1364-97C>T	noncoding	Benign
12	101651453	C	T	C101651453T	MYBPC1	NM_002465.4(MYBPC1):c.1526+60C>T	noncoding	Benign
12	101651520	C	T	C101651520T	MYBPC1	NM_002465.4(MYBPC1):c.1526+127C>T	noncoding	Benign
12	101652393	C	T	C101652393T	MYBPC1	NM_002465.4(MYBPC1):c.1527-285C>T	noncoding	Benign
12	101652616	C	T	C101652616T	MYBPC1	NM_002465.4(MYBPC1):c.1527-62C>T	noncoding	Benign
12	101652817	T	C	T101652817C	MYBPC1	NM_002465.4(MYBPC1):c.1633+33T>C	noncoding	Benign
12	101652898	T	C	T101652898C	MYBPC1	NM_002465.4(MYBPC1):c.1633+114T>C	noncoding	Benign
12	101659897	C	T	C101659897T	MYBPC1	NM_002465.4(MYBPC1):c.1927+66C>T	noncoding	Benign
12	101659975	C	G	C101659975G	MYBPC1	NM_002465.4(MYBPC1):c.1927+144C>G	noncoding	Benign
12	101659977	T	C	T101659977C	MYBPC1	NM_002465.4(MYBPC1):c.1927+146T>C	noncoding	Benign
12	101661034	C	T	C101661034T	MYBPC1	NM_002465.4(MYBPC1):c.1928-124C>T	noncoding	Benign
12	101661065	A	G	A101661065G	MYBPC1	NM_002465.4(MYBPC1):c.1928-93A>G	noncoding	Benign
12	101661101	T	C	T101661101C	MYBPC1	NM_002465.4(MYBPC1):c.1928-57T>C	noncoding	Benign
12	101662060	C	T	C101662060T	MYBPC1	NM_002465.4(MYBPC1):c.2033-298C>T	noncoding	Benign
12	101662329	A	T	A101662329T	MYBPC1	NM_002465.4(MYBPC1):c.2033-29A>T	noncoding	Benign
12	101662607	C	G	C101662607G	MYBPC1	NM_002465.4(MYBPC1):c.2221+61C>G	noncoding	Benign
12	101663097	G	A	G101663097A	MYBPC1	NM_002465.4(MYBPC1):c.2222-329G>A	noncoding	Benign
12	101663223	C	A	C101663223A	MYBPC1	NM_002465.4(MYBPC1):c.2222-203C>A	noncoding	Benign
12	101663388	T	C	T101663388C	MYBPC1	NM_002465.4(MYBPC1):c.2222-38T>C	noncoding	Benign
12	101663811	G	A	G101663811A	MYBPC1	NM_002465.4(MYBPC1):c.2356+251G>A	noncoding	Benign
12	101666597	G	A	G101666597A	MYBPC1	NM_002465.4(MYBPC1):c.2357-1135G>A	noncoding	Benign
12	101666898	C	T	C101666898T	MYBPC1	NM_002465.4(MYBPC1):c.2357-834C>T	noncoding	Benign
12	101666900	C	T	C101666900T	MYBPC1	NM_002465.4(MYBPC1):c.2357-832C>T	noncoding	Benign
12	101666930	T	C	T101666930C	MYBPC1	NM_002465.4(MYBPC1):c.2357-802T>C	noncoding	Benign
12	101667077	C	T	C101667077T	MYBPC1	NM_002465.4(MYBPC1):c.2357-655C>T	noncoding	Benign
12	101667081	C	T	C101667081T	MYBPC1	NM_002465.4(MYBPC1):c.2357-651C>T	noncoding	Benign
12	101668097	A	C	A101668097C	MYBPC1	NM_002465.4(MYBPC1):c.2524+198A>C	noncoding	Benign
12	101668192	C	A	C101668192A	MYBPC1	NM_002465.4(MYBPC1):c.2524+293C>A	noncoding	Benign
12	101670280	C	T	C101670280T	MYBPC1	NM_002465.4(MYBPC1):c.2525-41C>T	noncoding	Benign
12	101670606	A	G	A101670606G	MYBPC1	NM_002465.4(MYBPC1):c.2613+197A>G	noncoding	Benign
12	101670619	T	C	T101670619C	MYBPC1	NM_002465.4(MYBPC1):c.2613+210T>C	noncoding	Benign
12	101673144	C	A	C101673144A	MYBPC1	NM_002465.4(MYBPC1):c.2614-283C>A	noncoding	Benign
12	101675486	G	C	G101675486C	MYBPC1	NM_002465.4(MYBPC1):c.2949+55G>C	noncoding	Benign
12	101675640	C	T	C101675640T	MYBPC1	NM_002465.4(MYBPC1):c.2949+209C>T	noncoding	Benign
12	101676977	A	C	A101676977C	MYBPC1	NM_002465.4(MYBPC1):c.2950-258A>C	noncoding	Benign
12	101677093	A	T	A101677093T	MYBPC1	NM_002465.4(MYBPC1):c.2950-142A>T	noncoding	Benign
12	101677512	T	G	T101677512G	MYBPC1	NM_002465.4(MYBPC1):c.3109+118T>G	noncoding	Benign
12	101677941	G	A	G101677941A	MYBPC1	NM_002465.4(MYBPC1):c.3110-161G>A	noncoding	Benign
12	101680148	G	A	G101680148A	MYBPC1	NM_002465.4(MYBPC1):c.3247-195G>A	noncoding	Benign
12	101680643	G	T	G101680643T	MYBPC1	NM_002465.4(MYBPC1):c.3433+114G>T	noncoding	Benign
12	101680664	A	G	A101680664G	MYBPC1	NM_002465.4(MYBPC1):c.3433+135A>G	noncoding	Benign
12	101680801	T	C	T101680801C	MYBPC1	NM_002465.4(MYBPC1):c.3433+272T>C	noncoding	Benign
12	101682421	G	A	G101682421A	MYBPC1	NM_002465.4(MYBPC1):c.3434-183G>A	noncoding	Benign
12	101682556	G	A	G101682556A	MYBPC1	NM_002465.4(MYBPC1):c.3434-48G>A	noncoding	Benign
12	101682701	C	T	C101682701T	MYBPC1	NM_002465.4(MYBPC1):c.3492+39C>T	noncoding	Benign
12	101684316	G	C	G101684316C	MYBPC1	NM_002465.4(MYBPC1):c.3493-66G>C	noncoding	Benign
12	101729443	C	A	C101729443A	SYCP3	NM_001177949.2(SYCP3):c.553-230G>T	noncoding	Benign
12	101731312	G	A	G101731312A	SYCP3	NM_001177949.2(SYCP3):c.552+256C>T	noncoding	Benign
12	101733484	C	A	C101733484A	SYCP3	NM_001177949.2(SYCP3):c.453+91G>T	noncoding	Benign
12	101733936	T	G	T101733936G	SYCP3	NM_001177949.2(SYCP3):c.354-262A>C	noncoding	Benign
12	101737786	C	A	C101737786A	SYCP3	NM_001177949.2(SYCP3):c.133+17G>T	noncoding	Benign
12	101747325	T	A	T101747325A	GNPTAB	NM_024312.5(GNPTAB):c.3694-84A>T	noncoding	Benign
12	101753205	G	A	G101753205A	GNPTAB	NM_024312.5(GNPTAB):c.3602+167C>T	noncoding	Benign
12	101753310	T	C	T101753310C	GNPTAB	NM_024312.5(GNPTAB):c.3602+62A>G	noncoding	Benign
12	101753433	G	A	G101753433A	GNPTAB	NM_024312.5(GNPTAB):c.3541C>T:p.Gln1181Ter	coding	Pathogenic/Likely_pathogenic
12	101753785	T	C	T101753785C	GNPTAB	NM_024312.5(GNPTAB):c.3435-246A>G	noncoding	Benign
12	101757311	C	G	C101757311G	GNPTAB	NM_024312.5(GNPTAB):c.3336-1G>C	coding	Pathogenic/Likely_pathogenic
12	101757559	G	A	G101757559A	GNPTAB	NM_024312.5(GNPTAB):c.3335+13C>T	noncoding	Benign
12	101757561	G	C	G101757561C	GNPTAB	NM_024312.5(GNPTAB):c.3335+11C>G	noncoding	Benign/Likely_benign
12	101760400	G	A	G101760400A	GNPTAB	NM_024312.5(GNPTAB):c.3136-257C>T	noncoding	Benign
12	101760438	C	T	C101760438T	GNPTAB	NM_024312.5(GNPTAB):c.3136-295G>A	noncoding	Benign
12	101761228	G	A	G101761228A	GNPTAB	NM_024312.5(GNPTAB):c.3034C>T:p.Gln1012Ter	coding	Pathogenic
12	101761549	A	G	A101761549G	GNPTAB	NM_024312.5(GNPTAB):c.2915+15T>C	noncoding	Benign
12	101761571	G	A	G101761571A	GNPTAB	NM_024312.5(GNPTAB):c.2908C>T:p.Gln970Ter	coding	Pathogenic/Likely_pathogenic
12	101764704	G	T	G101764704T	GNPTAB	NM_024312.5(GNPTAB):c.2213C>A:p.Ser738Ter	coding	Pathogenic
12	101765293	C	A	C101765293A	GNPTAB	NM_024312.5(GNPTAB):c.1624G>T:p.Glu542Ter	coding	Pathogenic
12	101766136	A	G	A101766136G	GNPTAB	NM_024312.5(GNPTAB):c.1567T>C:p.Cys523Arg	coding	Pathogenic
12	101766296	T	C	T101766296C	GNPTAB	NM_024312.5(GNPTAB):c.1409-2A>G	noncoding	Pathogenic/Likely_pathogenic
12	101768036	C	A	C101768036A	GNPTAB	NM_024312.5(GNPTAB):c.1408+1G>T	noncoding	Pathogenic/Likely_pathogenic
12	101768153	A	T	A101768153T	GNPTAB	NM_024312.5(GNPTAB):c.1292T>A:p.Leu431Ter	coding	Pathogenic
12	101770119	C	A	C101770119A	GNPTAB	NM_024312.5(GNPTAB):c.1186G>T:p.Glu396Ter	coding	Pathogenic
12	101770448	C	T	C101770448T	GNPTAB	NM_024312.5(GNPTAB):c.1071G>A:p.Trp357Ter	coding	Pathogenic
12	101770727	A	G	A101770727G	GNPTAB	NM_024312.5(GNPTAB):c.934-142T>C	noncoding	Benign
12	101771049	C	A	C101771049A	GNPTAB	NM_024312.5(GNPTAB):c.880G>T:p.Glu294Ter	coding	Pathogenic/Likely_pathogenic
12	101780493	C	T	C101780493T	GNPTAB	NM_024312.5(GNPTAB):c.636+64G>A	noncoding	Benign
12	101780580	G	A	G101780580A	GNPTAB	NM_024312.5(GNPTAB):c.613C>T:p.Gln205Ter	coding	Pathogenic
12	101780673	T	C	T101780673C	GNPTAB	NM_024312.5(GNPTAB):c.572-52A>G	noncoding	Benign
12	101786000	A	G	A101786000G	GNPTAB	NM_024312.5(GNPTAB):c.571+12T>C	noncoding	Benign/Likely_benign
12	101786014	T	A	T101786014A	GNPTAB	NM_024312.5(GNPTAB):c.569A>T:p.Asp190Val	coding	Pathogenic/Likely_pathogenic
12	101788264	C	T	C101788264T	GNPTAB	NM_024312.5(GNPTAB):c.365+284G>A	noncoding	Benign
12	101788588	C	A	C101788588A	GNPTAB	NM_024312.5(GNPTAB):c.325G>T:p.Glu109Ter	coding	Pathogenic
12	101789981	G	A	G101789981A	GNPTAB	NM_024312.5(GNPTAB):c.280C>T:p.Gln94Ter	coding	Pathogenic
12	101796763	C	T	C101796763T	GNPTAB	NM_024312.5(GNPTAB):c.118-1G>A	coding	Pathogenic
12	101830324	G	A	G101830324A	GNPTAB	NM_024312.5(GNPTAB):c.117+235C>T	noncoding	Benign
12	101830330	G	A	G101830330A	GNPTAB	NM_024312.5(GNPTAB):c.117+229C>T	noncoding	Benign
12	101830651	G	A	G101830651A	GNPTAB	NM_024312.5(GNPTAB):c.25C>T:p.Gln9Ter	coding	Pathogenic
12	101830666	T	G	T101830666G	GNPTAB	NM_024312.5(GNPTAB):c.10A>C:p.Lys4Gln	coding	Pathogenic/Likely_pathogenic
12	101830673	C	G	C101830673G	GNPTAB	NM_024312.5(GNPTAB):c.3G>C:p.Met1Ile	coding	Pathogenic
12	102839195	C	T	C102839195T	PAH	NM_000277.3(PAH):c.1339G>A:p.Ala447Thr	coding	Pathogenic
12	102840331	C	T	C102840331T	PAH	NM_000277.3(PAH):c.1315+69G>A	noncoding	Benign
12	102840380	G	A	G102840380A	PAH	NM_000277.3(PAH):c.1315+20C>T	noncoding	Benign/Likely_benign
12	102840414	G	T	G102840414T	PAH	NM_000277.3(PAH):c.1301C>A:p.Ala434Asp	coding	Pathogenic/Likely_pathogenic
12	102840444	A	T	A102840444T	PAH	NM_000277.3(PAH):c.1271T>A:p.Leu424Ter	coding	Pathogenic
12	102840471	T	A	T102840471A	PAH	NM_000277.3(PAH):c.1244A>T:p.Asp415Val	coding	Pathogenic
12	102840478	G	T	G102840478T	PAH	NM_000277.3(PAH):c.1237C>A:p.Arg413Ser	coding	Pathogenic
12	102840496	G	A	G102840496A	PAH	NM_000277.3(PAH):c.1219C>T:p.Pro407Ser	coding	Pathogenic/Likely_pathogenic
12	102840701	A	G	A102840701G	PAH	NM_000277.3(PAH):c.1200-186T>C	noncoding	Benign
12	102840766	G	A	G102840766A	PAH	NM_000277.3(PAH):c.1200-251C>T	noncoding	Benign
12	102843144	T	A	T102843144A	PAH	NM_000277.3(PAH):c.1199+502A>T	noncoding	Pathogenic
12	102843382	C	T	C102843382T	PAH	NM_000277.3(PAH):c.1199+264G>A	noncoding	Benign
12	102843653	T	A	T102843653A	PAH	NM_000277.3(PAH):c.1192A>T:p.Lys398Ter	coding	Pathogenic
12	102843767	C	A	C102843767A	PAH	NM_000277.3(PAH):c.1078G>T:p.Glu360Ter	coding	Pathogenic
12	102843774	G	T	G102843774T	PAH	NM_000277.3(PAH):c.1071C>A:p.Cys357Ter	coding	Pathogenic
12	102843972	C	G	C102843972G	PAH	NM_000277.3(PAH):c.1066-193G>C	noncoding	Benign
12	102844015	G	A	G102844015A	PAH	NM_000277.3(PAH):c.1066-236C>T	noncoding	Benign
12	102844131	T	A	T102844131A	PAH	NM_000277.3(PAH):c.1065+205A>T	noncoding	Benign
12	102844180	A	C	A102844180C	PAH	NM_000277.3(PAH):c.1065+156T>G	noncoding	Benign
12	102844181	A	G	A102844181G	PAH	NM_000277.3(PAH):c.1065+155T>C	noncoding	Benign
12	102844239	C	T	C102844239T	PAH	NM_000277.3(PAH):c.1065+97G>A	noncoding	Benign
12	102844377	C	T	C102844377T	PAH	NM_000277.3(PAH):c.1024G>A:p.Ala342Thr	coding	Pathogenic/Likely_pathogenic
12	102844380	T	A	T102844380A	PAH	NM_000277.3(PAH):c.1021A>T:p.Lys341Ter	coding	Pathogenic
12	102844395	G	A	G102844395A	PAH	NM_000277.3(PAH):c.1006C>T:p.Gln336Ter	coding	Pathogenic
12	102844626	C	T	C102844626T	PAH	NM_000277.3(PAH):c.970-195G>A	noncoding	Benign
12	102846674	A	C	A102846674C	PAH	NM_000277.3(PAH):c.969+221T>G	noncoding	Benign
12	102846875	C	T	C102846875T	PAH	NM_000277.3(PAH):c.969+20G>A	noncoding	Benign
12	102846929	C	A	C102846929A	PAH	NM_000277.3(PAH):c.935G>T:p.Gly312Val	coding	Pathogenic
12	102851458	G	C	G102851458C	PAH	NM_000277.3(PAH):c.912+229C>G	noncoding	Benign
12	102851757	C	T	C102851757T	PAH	NM_000277.3(PAH):c.843-1G>A	coding	Pathogenic
12	102852024	A	G	A102852024G	PAH	NM_000277.3(PAH):c.843-268T>C	noncoding	Benign
12	102852614	C	A	C102852614A	PAH	NM_000277.3(PAH):c.842+201G>T	noncoding	Benign
12	102852815	G	C	G102852815C	PAH	NM_000277.3(PAH):c.842C>G:p.Pro281Arg	coding	Pathogenic
12	102852827	T	C	T102852827C	PAH	NM_000277.3(PAH):c.830A>G:p.Tyr277Cys	coding	Pathogenic
12	102852853	G	T	G102852853T	PAH	NM_000277.3(PAH):c.804C>A:p.Tyr268Ter	coding	Pathogenic
12	102852933	G	A	G102852933A	PAH	NM_000277.3(PAH):c.724C>T:p.Leu242Phe	coding	Pathogenic
12	102852941	C	T	C102852941T	PAH	NM_000277.3(PAH):c.716G>A:p.Gly239Asp	coding	Pathogenic
12	102852952	T	C	T102852952C	PAH	NM_000277.3(PAH):c.707-2A>G	noncoding	Pathogenic
12	102855080	C	T	C102855080T	PAH	NM_000277.3(PAH):c.706+56G>A	noncoding	Benign
12	102855139	G	A	G102855139A	PAH	NM_000277.3(PAH):c.703C>T:p.Gln235Ter	coding	Pathogenic
12	102855143	G	C	G102855143C	PAH	NM_000277.3(PAH):c.699C>G:p.Phe233Leu	coding	Pathogenic
12	102855143	G	T	G102855143T	PAH	NM_000277.3(PAH):c.699C>A:p.Phe233Leu	coding	Pathogenic
12	102855150	G	A	G102855150A	PAH	NM_000277.3(PAH):c.692C>T:p.Ser231Phe	coding	Pathogenic
12	102855160	C	A	C102855160A	PAH	NM_000277.3(PAH):c.682G>T:p.Glu228Ter	coding	Pathogenic
12	102855164	C	G	C102855164G	PAH	NM_000277.3(PAH):c.678G>C:p.Gln226His	coding	Pathogenic
12	102855227	C	G	C102855227G	PAH	NM_000277.3(PAH):c.615G>C:p.Glu205Asp	coding	Pathogenic
12	102855239	A	C	A102855239C	PAH	NM_000277.3(PAH):c.603T>G:p.His201Gln	coding	Pathogenic
12	102855298	C	T	C102855298T	PAH	NM_000277.3(PAH):c.544G>A:p.Glu182Lys	coding	Pathogenic
12	102855307	A	G	A102855307G	PAH	NM_000277.3(PAH):c.535T>C:p.Tyr179His	coding	Pathogenic
12	102855310	C	T	C102855310T	PAH	NM_000277.3(PAH):c.532G>A:p.Glu178Lys	coding	Pathogenic
12	102855331	C	G	C102855331G	PAH	NM_000277.3(PAH):c.511G>C:p.Gly171Arg	coding	Pathogenic
12	102855333	C	T	C102855333T	PAH	NM_000277.3(PAH):c.510-1G>A	coding	Pathogenic
12	102855334	T	C	T102855334C	PAH	NM_000277.3(PAH):c.510-2A>G	noncoding	Pathogenic
12	102855549	G	A	G102855549A	PAH	NM_000277.3(PAH):c.510-217C>T	noncoding	Benign
12	102855586	G	A	G102855586A	PAH	NM_000277.3(PAH):c.510-254C>T	noncoding	Benign
12	102855635	G	A	G102855635A	PAH	NM_000277.3(PAH):c.510-303C>T	noncoding	Benign
12	102866495	T	G	T102866495G	PAH	NM_000277.3(PAH):c.509+101A>C	noncoding	Benign
12	102866643	G	T	G102866643T	PAH	NM_000277.3(PAH):c.462C>A:p.Tyr154Ter	coding	Pathogenic
12	102866665	T	G	T102866665G	PAH	NM_000277.3(PAH):c.442-2A>C	noncoding	Pathogenic
12	102866830	T	C	T102866830C	PAH	NM_000277.3(PAH):c.442-167A>G	noncoding	Benign
12	102866856	T	C	T102866856C	PAH	NM_000277.3(PAH):c.442-193A>G	noncoding	Benign
12	102877442	C	T	C102877442T	PAH	NM_000277.3(PAH):c.441+20G>A	noncoding	Benign/Likely_benign
12	102877460	A	C	A102877460C	PAH	NM_000277.3(PAH):c.441+2T>G	noncoding	Pathogenic
12	102877460	A	T	A102877460T	PAH	NM_000277.3(PAH):c.441+2T>A	noncoding	Pathogenic
12	102877504	A	G	A102877504G	PAH	NM_000277.3(PAH):c.399T>C:p.Asn133=	coding	Benign
12	102877538	G	T	G102877538T	PAH	NM_000277.3(PAH):c.365C>A:p.Pro122Gln	coding	Pathogenic
12	102877556	A	T	A102877556T	PAH	NM_000277.3(PAH):c.353-6T>A	noncoding	Pathogenic
12	102877688	C	T	C102877688T	PAH	NM_000277.3(PAH):c.353-138G>A	noncoding	Benign
12	102877722	C	T	C102877722T	PAH	NM_000277.3(PAH):c.353-172G>A	noncoding	Benign
12	102894571	A	T	A102894571T	PAH	NM_000277.3(PAH):c.352+164T>A	noncoding	Benign
12	102894779	C	T	C102894779T	PAH	NM_000277.3(PAH):c.308G>A:p.Gly103Asp	coding	Pathogenic
12	102894812	G	A	G102894812A	PAH	NM_000277.3(PAH):c.275C>T:p.Thr92Ile	coding	Pathogenic
12	102894822	G	A	G102894822A	PAH	NM_000277.3(PAH):c.265C>T:p.Pro89Ser	coding	Pathogenic
12	102894885	T	C	T102894885C	PAH	NM_000277.3(PAH):c.202A>G:p.Arg68Gly	coding	Pathogenic
12	102894904	G	T	G102894904T	PAH	NM_000277.3(PAH):c.183C>A:p.Asn61Lys	coding	Pathogenic
12	102894906	T	C	T102894906C	PAH	NM_000277.3(PAH):c.181A>G:p.Asn61Asp	coding	Pathogenic
12	102894919	C	T	C102894919T	PAH	NM_000277.3(PAH):c.169-1G>A	coding	Pathogenic
12	102912791	C	A	C102912791A	PAH	NM_000277.3(PAH):c.168G>T:p.Glu56Asp	coding	Pathogenic
12	102913243	A	G	A102913243G	PAH	NM_000277.3(PAH):c.61-345T>C	noncoding	Benign
12	102916937	T	C	T102916937C	PAH	NM_000277.3(PAH):c.60+134A>G	noncoding	Benign
12	102917277	G	A	G102917277A	PAH	NM_000277.2(PAH):c.-147C>T	noncoding	Benign/Likely_benign
12	102917353	C	T	C102917353T	PAH	NM_000277.2(PAH):c.-223G>A	noncoding	Benign
12	102917446	A	G	A102917446G	PAH	NM_000277.2(PAH):c.-316T>C	noncoding	Benign
12	102917894	C	G	C102917894G	PAH	NM_001354304.2(PAH):c.-95-669G>C	noncoding	Benign
12	102958048	T	C	T102958048C	ASCL1	NM_004316.4(ASCL1):c.-197T>C	noncoding	Benign
12	103755473	C	T	C103755473T	STAB2	NM_017564.10(STAB2):c.6880+6C>T	noncoding	Benign
12	104805069	G	A	G104805069A	SLC41A2	NM_001352171.3(SLC41A2):c.*83C>T	noncoding	Benign
12	104805260	G	A	G104805260A	SLC41A2	NM_001352171.3(SLC41A2):c.1614C>T:p.Ser538=	coding	Benign
12	104846170	A	C	A104846170C	SLC41A2	NM_001352171.3(SLC41A2):c.1256-196T>G	noncoding	Benign
12	104866737	A	C	A104866737C	SLC41A2	NM_001352171.3(SLC41A2):c.1028-158T>G	noncoding	Benign
12	104886153	C	A	C104886153A	SLC41A2	NM_001352171.3(SLC41A2):c.1027+140G>T	noncoding	Benign
12	104886458	A	C	A104886458C	SLC41A2	NM_001352171.3(SLC41A2):c.881-19T>G	noncoding	Benign
12	104886665	T	C	T104886665C	SLC41A2	NM_001352171.3(SLC41A2):c.881-226A>G	noncoding	Benign
12	104889115	T	C	T104889115C	SLC41A2	NM_001352171.3(SLC41A2):c.798A>G:p.Pro266=	coding	Benign
12	104909465	G	T	G104909465T	SLC41A2	NM_001352171.3(SLC41A2):c.663+190C>A	noncoding	Benign
12	104909591	G	A	G104909591A	SLC41A2	NM_001352171.3(SLC41A2):c.663+64C>T	noncoding	Benign
12	104910000	C	T	C104910000T	SLC41A2	NM_001352171.3(SLC41A2):c.556-238G>A	noncoding	Benign
12	104927956	T	C	T104927956C	SLC41A2	NM_001352171.3(SLC41A2):c.555+17A>G	noncoding	Benign
12	105133894	C	T	C105133894T	WASHC4	NM_015275.3(WASHC4):c.1324C>T:p.Gln442Ter	coding	Pathogenic
12	105152394	G	A	G105152394A	WASHC4	NM_015275.3(WASHC4):c.2701G>A:p.Val901Ile	coding	Benign
12	105162831	A	G	A105162831G	WASHC4	NM_015275.3(WASHC4):c.3143A>G:p.Asp1048Gly	coding	Pathogenic
12	106357492	T	C	T106357492C	POLR3B	Single_allele	noncoding	Benign
12	106358027	G	A	G106358027A	POLR3B	NM_018082.6(POLR3B):c.72+76G>A	noncoding	Benign
12	106358097	C	T	C106358097T	POLR3B	NM_018082.6(POLR3B):c.72+146C>T	coding	Benign
12	106366347	A	G	A106366347G	POLR3B	NM_018082.6(POLR3B):c.106-169A>G	noncoding	Benign
12	106368987	A	G	A106368987G	POLR3B	NM_018082.6(POLR3B):c.228-288A>G	noncoding	Benign
12	106369235	C	T	C106369235T	POLR3B	NM_018082.6(POLR3B):c.228-40C>T	noncoding	Benign
12	106369490	A	G	A106369490G	POLR3B	NM_018082.6(POLR3B):c.304-93A>G	noncoding	Benign
12	106369591	G	T	G106369591T	POLR3B	NM_018082.6(POLR3B):c.312G>T:p.Leu104Phe	coding	Pathogenic
12	106369950	G	A	G106369950A	POLR3B	NM_018082.6(POLR3B):c.404+267G>A	noncoding	Benign
12	106378157	A	G	A106378157G	POLR3B	NM_018082.6(POLR3B):c.497-110A>G	noncoding	Benign
12	106378443	G	A	G106378443A	POLR3B	NM_018082.6(POLR3B):c.614+59G>A	noncoding	Benign
12	106378636	G	A	G106378636A	POLR3B	NM_018082.6(POLR3B):c.614+252G>A	noncoding	Benign
12	106378657	A	T	A106378657T	POLR3B	NM_018082.6(POLR3B):c.614+273A>T	noncoding	Benign
12	106378659	A	T	A106378659T	POLR3B	NM_018082.6(POLR3B):c.614+275A>T	noncoding	Benign
12	106378661	A	T	A106378661T	POLR3B	NM_018082.6(POLR3B):c.614+277A>T	noncoding	Benign
12	106378663	A	T	A106378663T	POLR3B	NM_018082.6(POLR3B):c.614+279A>T	noncoding	Benign
12	106379708	T	C	T106379708C	POLR3B	NM_018082.6(POLR3B):c.615-323T>C	noncoding	Benign
12	106379898	A	C	A106379898C	POLR3B	NM_018082.6(POLR3B):c.615-133A>C	noncoding	Benign
12	106405555	C	T	C106405555T	POLR3B	NM_018082.6(POLR3B):c.847-302C>T	noncoding	Benign
12	106410844	C	T	C106410844T	POLR3B	NM_018082.6(POLR3B):c.985C>T:p.Arg329Ter	coding	Pathogenic
12	106410946	G	A	G106410946A	POLR3B	NM_018082.6(POLR3B):c.1087G>A:p.Glu363Lys	coding	Pathogenic
12	106410953	C	T	C106410953T	POLR3B	NM_018082.6(POLR3B):c.1094C>T:p.Ala365Val	coding	Pathogenic
12	106427360	T	C	T106427360C	POLR3B	NM_018082.6(POLR3B):c.1263+2T>C	noncoding	Pathogenic/Likely_pathogenic
12	106427376	C	T	C106427376T	POLR3B	NM_018082.6(POLR3B):c.1263+18C>T	noncoding	Benign
12	106430294	T	G	T106430294G	POLR3B	NM_018082.6(POLR3B):c.1285T>G:p.Phe429Val	coding	Pathogenic
12	106430487	G	A	G106430487A	POLR3B	NM_018082.6(POLR3B):c.1464+14G>A	noncoding	Benign/Likely_benign
12	106432204	A	G	A106432204G	POLR3B	NM_018082.6(POLR3B):c.1465-114A>G	noncoding	Benign
12	106433867	A	T	A106433867T	POLR3B	NM_018082.6(POLR3B):c.1776A>T:p.Leu592=	coding	Benign/Likely_benign
12	106433999	G	T	G106433999T	POLR3B	NM_018082.6(POLR3B):c.1781+127G>T	noncoding	Benign
12	106437505	G	A	G106437505A	POLR3B	NM_018082.6(POLR3B):c.1857-176G>A	noncoding	Benign
12	106437661	T	A	T106437661A	POLR3B	NM_018082.6(POLR3B):c.1857-20T>A	noncoding	Benign
12	106444183	A	G	A106444183G	POLR3B	NM_018082.6(POLR3B):c.1956-280A>G	noncoding	Benign
12	106444478	G	A	G106444478A	POLR3B	NM_018082.6(POLR3B):c.1971G>A:p.Leu657=	coding	Benign/Likely_benign
12	106454467	A	C	A106454467C	POLR3B	NM_018082.6(POLR3B):c.2084-35A>C	noncoding	Benign
12	106454522	C	T	C106454522T	POLR3B	NM_018082.6(POLR3B):c.2104C>T:p.Arg702Ter	coding	Pathogenic
12	106454888	A	G	A106454888G	POLR3B	NM_018082.6(POLR3B):c.2293+177A>G	noncoding	Benign
12	106454920	A	G	A106454920G	POLR3B	NM_018082.6(POLR3B):c.2293+209A>G	noncoding	Benign
12	106454926	T	G	T106454926G	POLR3B	NM_018082.6(POLR3B):c.2293+215T>G	noncoding	Benign
12	106457125	G	C	G106457125C	POLR3B	NM_018082.6(POLR3B):c.2294-13G>C	noncoding	Benign
12	106457257	C	T	C106457257T	POLR3B	NM_018082.6(POLR3B):c.2413C>T:p.Arg805Ter	coding	Pathogenic
12	106458942	T	C	T106458942C	POLR3B	NM_018082.6(POLR3B):c.2453-309T>C	noncoding	Benign
12	106459696	G	T	G106459696T	POLR3B	NM_018082.6(POLR3B):c.2570+328G>T	noncoding	Benign
12	106463800	C	T	C106463800T	POLR3B	NM_018082.6(POLR3B):c.2713+180C>T	noncoding	Benign
12	106496281	C	T	C106496281T	POLR3B	NM_018082.6(POLR3B):c.2817+123C>T	noncoding	Benign
12	106496357	A	G	A106496357G	POLR3B	NM_018082.6(POLR3B):c.2817+199A>G	noncoding	Benign
12	106496373	G	A	G106496373A	POLR3B	NM_018082.6(POLR3B):c.2817+215G>A	noncoding	Benign
12	106496799	C	T	C106496799T	POLR3B	NM_018082.6(POLR3B):c.2865C>T:p.Asp955=	coding	Benign/Likely_benign
12	106501282	A	G	A106501282G	POLR3B	NM_018082.6(POLR3B):c.2985-41A>G	noncoding	Benign
12	106501305	A	T	A106501305T	POLR3B	NM_018082.6(POLR3B):c.2985-18A>T	noncoding	Benign/Likely_benign
12	106501474	A	C	A106501474C	POLR3B	NM_018082.6(POLR3B):c.3098+38A>C	noncoding	Benign
12	106501583	A	G	A106501583G	POLR3B	NM_018082.6(POLR3B):c.3098+147A>G	noncoding	Benign
12	106503836	A	G	A106503836G	POLR3B	NM_018082.6(POLR3B):c.3099-245A>G	noncoding	Benign
12	106503996	C	T	C106503996T	POLR3B	NM_018082.6(POLR3B):c.3099-85C>T	noncoding	Benign
12	106504431	T	C	T106504431C	POLR3B	NM_018082.6(POLR3B):c.3272+177T>C	noncoding	Benign
12	108224853	C	T	C108224853T	WSCD2	NM_014653.4(WSCD2):c.797C>T:p.Thr266Ile	coding	Benign
12	108562068	A	G	A108562068G	ISCU	NM_213595.3(ISCU):c.-555A>G	noncoding	Benign
12	108562106	C	T	C108562106T	ISCU	NM_213595.3(ISCU):c.-517C>T	noncoding	Benign
12	108562229	C	G	C108562229G	ISCU	NM_213595.3(ISCU):c.-394C>G	noncoding	Benign
12	108562299	C	T	C108562299T	ISCU	NM_213595.3(ISCU):c.-324C>T	noncoding	Benign
12	108562309	G	C	G108562309C	ISCU	NM_213595.3(ISCU):c.-314G>C	noncoding	Benign
12	108562312	T	C	T108562312C	ISCU	NM_213595.3(ISCU):c.-311T>C	noncoding	Benign
12	108562522	T	C	T108562522C	ISCU	NM_213595.3(ISCU):c.-101T>C	noncoding	Benign
12	108562581	C	T	C108562581T	ISCU	NM_213595.3(ISCU):c.-42C>T	noncoding	Benign
12	108562732	A	G	A108562732G	ISCU	NM_213595.4(ISCU):c.110A>G:p.Lys37Arg	coding	Benign
12	108562834	C	G	C108562834G	ISCU	NM_213595.4(ISCU):c.114+98C>G	noncoding	Benign
12	108564033	G	T	G108564033T	ISCU	NM_213595.4(ISCU):c.115-246G>T	noncoding	Benign
12	108564564	C	T	C108564564T	ISCU	NM_213595.4(ISCU):c.228+172C>T	noncoding	Benign
12	108566960	T	A	T108566960A	ISCU	NM_213595.4(ISCU):c.340-230T>A	noncoding	Benign
12	108567130	G	T	G108567130T	ISCU	NM_213595.4(ISCU):c.340-60G>T	noncoding	Benign
12	108567426	A	G	A108567426G	ISCU	NM_213595.4(ISCU):c.418+158A>G	noncoding	Benign
12	108567517	C	T	C108567517T	ISCU	NM_213595.4(ISCU):c.418+249C>T	noncoding	Benign
12	108567578	T	C	T108567578C	ISCU	NM_213595.4(ISCU):c.418+310T>C	noncoding	Benign
12	108567607	A	G	A108567607G	ISCU	NM_213595.4(ISCU):c.418+339A>G	noncoding	Benign
12	108568047	G	A	G108568047A	ISCU	NM_213595.4(ISCU):c.418+779G>A	noncoding	Benign
12	108568669	C	T	C108568669T	ISCU	NM_213595.4(ISCU):c.419-162C>T	noncoding	Benign
12	108568794	C	T	C108568794T	ISCU	NM_213595.4(ISCU):c.419-37C>T	noncoding	Benign
12	108569151	G	A	G108569151A	ISCU	NM_213595.4(ISCU):c.*235G>A	noncoding	Benign
12	108569153	A	T	A108569153T	ISCU	NM_213595.4(ISCU):c.*237A>T	noncoding	Benign
12	108884764	C	T	C108884764T	DAO	NM_001917.5(DAO):c.-9-234C>T	noncoding	Benign
12	108884971	T	G	T108884971G	DAO	NM_001917.5(DAO):c.-9-27T>G	noncoding	Benign
12	108887351	C	T	C108887351T	DAO	NM_001917.5(DAO):c.195-99C>T	noncoding	Benign
12	108887534	G	A	G108887534A	DAO	NM_001917.5(DAO):c.279G>A:p.Ser93=	coding	Benign
12	108887901	A	G	A108887901G	DAO	NM_001917.5(DAO):c.309+337A>G	noncoding	Benign
12	108889827	A	C	A108889827C	DAO	NM_001917.5(DAO):c.386+282A>C	noncoding	Benign
12	108889950	A	G	A108889950G	DAO	NM_001917.5(DAO):c.387-258A>G	noncoding	Benign
12	108892800	G	C	G108892800C	DAO	NM_001917.5(DAO):c.453-182G>C	noncoding	Benign
12	108893134	G	A	G108893134A	DAO	NM_001917.5(DAO):c.507+98G>A	noncoding	Benign
12	108893952	T	C	T108893952C	DAO	NM_001917.5(DAO):c.508-311T>C	noncoding	Benign
12	108894208	A	G	A108894208G	DAO	NM_001917.5(DAO):c.508-55A>G	noncoding	Benign
12	108898654	C	T	C108898654T	DAO	NM_001917.5(DAO):c.696-25C>T	noncoding	Benign
12	108899197	A	G	A108899197G	DAO	NM_001917.5(DAO):c.814-180A>G	noncoding	Benign
12	108899641	C	T	C108899641T	DAO	NM_001917.5(DAO):c.912+166C>T	noncoding	Benign
12	108900275	G	A	G108900275A	DAO	NM_001917.5(DAO):c.913-129G>A	noncoding	Benign
12	108900637	T	C	T108900637C	DAO	NM_001917.5(DAO):c.*102T>C	noncoding	Benign
12	109098004	A	G	A109098004G	UNG	NM_080911.3(UNG):c.132+193A>G	noncoding	Benign
12	109098052	T	A	T109098052A	UNG	NM_080911.3(UNG):c.132+241T>A	noncoding	Benign
12	109098211	C	T	C109098211T	UNG	NM_080911.3(UNG):c.133-221C>T	coding	Benign
12	109098655	A	C	A109098655C	UNG	NM_080911.3(UNG):c.339+17A>C	noncoding	Benign
12	109098754	A	C	A109098754C	UNG	NM_080911.3(UNG):c.339+116A>C	noncoding	Benign
12	109102937	C	T	C109102937T	UNG	NM_080911.3(UNG):c.622+10C>T	noncoding	Benign/Likely_benign
12	109103366	T	C	T109103366C	UNG	NM_080911.3(UNG):c.623-67T>C	noncoding	Benign
12	109103540	C	T	C109103540T	UNG	NM_080911.3(UNG):c.730C>T:p.Gln244Ter	coding	Pathogenic
12	109109781	A	T	A109109781T	UNG	NM_080911.3(UNG):c.802-48A>T	noncoding	Benign
12	109109782	T	A	T109109782A	UNG	NM_080911.3(UNG):c.802-47T>A	noncoding	Benign
12	109445569	T	C	T109445569C	MYO1H	NM_001101421.4(MYO1H):c.3050T>C:p.Leu1017Pro	coding	Benign
12	109481675	C	T	C109481675T	UBE3B	NM_130466.4(UBE3B):c.-89C>T	noncoding	Benign
12	109486470	G	A	G109486470A	UBE3B	NM_130466.4(UBE3B):c.343-1G>A	noncoding	Pathogenic
12	109486576	G	T	G109486576T	UBE3B	NM_130466.4(UBE3B):c.447+1G>T	coding	Pathogenic
12	109488557	G	A	G109488557A	UBE3B	NM_130466.4(UBE3B):c.448-15G>A	noncoding	Benign
12	109490022	C	A	C109490022A	UBE3B	NM_130466.4(UBE3B):c.630+18C>A	noncoding	Benign
12	109498219	G	A	G109498219A	UBE3B	NM_130466.4(UBE3B):c.820-14G>A	noncoding	Benign
12	109498251	T	C	T109498251C	UBE3B	NM_130466.4(UBE3B):c.838T>C:p.Ser280Pro	coding	Benign
12	109498364	G	A	G109498364A	UBE3B	NM_130466.4(UBE3B):c.940+11G>A	noncoding	Benign
12	109499729	G	A	G109499729A	UBE3B	NM_130466.4(UBE3B):c.1037G>A:p.Arg346Gln	coding	Benign
12	109507628	C	T	C109507628T	UBE3B	NM_130466.4(UBE3B):c.1515C>T:p.His505=	coding	Benign
12	109510342	A	G	A109510342G	UBE3B	NM_130466.4(UBE3B):c.1742-2A>G	noncoding	Pathogenic
12	109521169	C	T	C109521169T	UBE3B	NM_130466.4(UBE3B):c.2098C>T:p.Gln700Ter	coding	Pathogenic
12	109521522	G	A	G109521522A	UBE3B	NM_130466.4(UBE3B):c.2335G>A:p.Gly779Arg	coding	Pathogenic
12	109524482	C	A	C109524482A	UBE3B	NM_130466.4(UBE3B):c.2547C>A:p.Tyr849Ter	coding	Pathogenic
12	109530622	C	T	C109530622T	UBE3B	NM_130466.4(UBE3B):c.2886C>T:p.Ser962=	coding	Benign
12	109533568	C	T	C109533568T	UBE3B	NM_130466.4(UBE3B):c.3015+10C>T	noncoding	Benign
12	109534574	A	G	A109534574G	UBE3B	NM_130466.4(UBE3B):c.3016-17A>G	noncoding	Benign
12	109557131	C	A	C109557131A	MMAB	NM_052845.4(MMAB):c.650G>T:p.Ser217Ile	coding	Pathogenic
12	109558883	C	T	C109558883T	MMAB	NM_052845.4(MMAB):c.644+213G>A	noncoding	Benign
12	109559102	A	C	A109559102C	MMAB	NM_052845.4(MMAB):c.638T>G:p.Leu213Ter	coding	Pathogenic
12	109559329	C	T	C109559329T	MMAB	NM_052845.4(MMAB):c.585-174G>A	noncoding	Benign
12	109559358	A	G	A109559358G	MMAB	NM_052845.4(MMAB):c.585-203T>C	noncoding	Benign
12	109559359	C	T	C109559359T	MMAB	NM_052845.4(MMAB):c.585-204G>A	noncoding	Benign
12	109559417	C	T	C109559417T	MMAB	NM_052845.4(MMAB):c.585-262G>A	noncoding	Benign
12	109560789	C	T	C109560789T	MMAB	NM_052845.4(MMAB):c.584+251G>A	noncoding	Benign
12	109561016	T	C	T109561016C	MMAB	NM_052845.4(MMAB):c.584+24A>G	noncoding	Benign/Likely_benign
12	109561052	C	T	C109561052T	MMAB	NM_052845.4(MMAB):c.572G>A:p.Arg191Gln	coding	Pathogenic
12	109561055	C	T	C109561055T	MMAB	NM_052845.4(MMAB):c.569G>A:p.Arg190His	coding	Pathogenic/Likely_pathogenic
12	109561101	C	A	C109561101A	MMAB	NM_052845.4(MMAB):c.523G>T:p.Gly175Ter	coding	Pathogenic
12	109561200	G	A	G109561200A	MMAB	NM_052845.4(MMAB):c.520-96C>T	noncoding	Benign
12	109561232	G	A	G109561232A	MMAB	NM_052845.4(MMAB):c.520-128C>T	noncoding	Benign
12	109561243	C	T	C109561243T	MMAB	NM_052845.4(MMAB):c.520-139G>A	coding	Benign
12	109561452	G	A	G109561452A	MMAB	NM_052845.4(MMAB):c.487C>T:p.Gln163Ter	coding	Pathogenic
12	109561472	C	T	C109561472T	MMAB	NM_052845.4(MMAB):c.467G>A:p.Trp156Ter	coding	Pathogenic
12	109561477	C	A	C109561477A	MMAB	NM_052845.4(MMAB):c.462G>T:p.Glu154Asp	coding	Pathogenic
12	109561479	C	A	C109561479A	MMAB	NM_052845.4(MMAB):c.460G>T:p.Glu154Ter	coding	Pathogenic
12	109561821	G	T	G109561821T	MMAB	NM_052845.4(MMAB):c.380C>A:p.Ala127Asp	coding	Pathogenic
12	109561869	A	G	A109561869G	MMAB	NM_052845.4(MMAB):c.349-17T>C	noncoding	Benign/Likely_benign
12	109568566	G	A	G109568566A	MMAB	NM_052845.4(MMAB):c.290+204C>T	noncoding	Benign
12	109568707	A	G	A109568707G	MMAB	NM_052845.4(MMAB):c.290+63T>C	noncoding	Benign
12	109568840	C	A	C109568840A	MMAB	NM_052845.4(MMAB):c.220G>T:p.Glu74Ter	coding	Pathogenic
12	109571370	T	G	T109571370G	MMAB	NM_052845.4(MMAB):c.196+279A>C	noncoding	Benign
12	109571711	C	T	C109571711T	MMAB	NM_052845.4(MMAB):c.135-1G>A	coding	Pathogenic
12	109571951	A	G	A109571951G	MMAB	NM_052845.4(MMAB):c.135-241T>C	noncoding	Benign
12	109573394	A	T	A109573394T	MMAB	NM_052845.4(MMAB):c.87T>A:p.Tyr29Ter	coding	Pathogenic
12	109573469	G	T	G109573469T	MMAB	NM_052845.4(MMAB):c.12C>A:p.Cys4Ter	coding	Pathogenic/Likely_pathogenic
12	109573934	G	A	G109573934A	MVK	NM_000431.4(MVK):c.-15+61G>A	noncoding	Benign
12	109574662	G	T	G109574662T	MVK	NM_000431.4(MVK):c.-14-147G>T	noncoding	Benign
12	109574705	C	G	C109574705G	MVK	NM_000431.4(MVK):c.-14-104C>G	noncoding	Benign
12	109575005	A	G	A109575005G	MVK	NM_000431.4(MVK):c.78+105A>G	noncoding	Benign
12	109575041	G	A	G109575041A	MVK	NM_000431.4(MVK):c.78+141G>A	noncoding	Benign
12	109575077	G	A	G109575077A	MVK	NM_000431.4(MVK):c.78+177G>A	noncoding	Benign
12	109576104	G	A	G109576104A	MVK	NM_000431.4(MVK):c.185G>A:p.Trp62Ter	coding	Pathogenic
12	109576149	A	G	A109576149G	MVK	NM_000431.4(MVK):c.226+4A>G	noncoding	Benign/Likely_benign
12	109576153	C	T	C109576153T	MVK	NM_000431.4(MVK):c.226+8C>T	noncoding	Benign
12	109576250	C	T	C109576250T	MVK	NM_000431.4(MVK):c.226+105C>T	noncoding	Benign
12	109576251	G	A	G109576251A	MVK	NM_000431.4(MVK):c.226+106G>A	noncoding	Benign
12	109579762	C	G	C109579762G	MVK	NM_000431.4(MVK):c.227-40C>G	noncoding	Benign
12	109581427	C	T	C109581427T	MVK	NM_000431.4(MVK):c.404C>T:p.Ser135Leu	coding	Pathogenic
12	109581603	C	T	C109581603T	MVK	NM_000431.4(MVK):c.527+53C>T	noncoding	Benign
12	109585867	G	A	G109585867A	MVK	NM_000431.4(MVK):c.528-155G>A	noncoding	Benign
12	109585884	G	A	G109585884A	MVK	NM_000431.4(MVK):c.528-138G>A	noncoding	Benign
12	109586004	G	A	G109586004A	MVK	NM_000431.4(MVK):c.528-18G>A	noncoding	Benign
12	109586107	A	G	A109586107G	MVK	NM_000431.4(MVK):c.613A>G:p.Asn205Asp	coding	Pathogenic/Likely_pathogenic
12	109586766	G	A	G109586766A	MVK	NM_000431.4(MVK):c.644G>A:p.Arg215Gln	coding	Pathogenic
12	109586902	T	C	T109586902C	MVK	NM_000431.4(MVK):c.677+103T>C	noncoding	Benign
12	109590528	A	G	A109590528G	MVK	NM_000431.4(MVK):c.678-243A>G	noncoding	Benign
12	109590733	T	C	T109590733C	MVK	NM_000431.4(MVK):c.678-38T>C	noncoding	Benign
12	109590764	C	A	C109590764A	MVK	NM_000431.4(MVK):c.678-7C>A	noncoding	Benign
12	109590873	T	G	T109590873G	MVK	NM_000431.4(MVK):c.768+12T>G	noncoding	Benign
12	109590885	C	T	C109590885T	MVK	NM_000431.4(MVK):c.768+24C>T	noncoding	Benign
12	109590962	T	G	T109590962G	MVK	NM_000431.4(MVK):c.768+101T>G	noncoding	Benign
12	109590978	C	A	C109590978A	MVK	NM_000431.4(MVK):c.768+117C>A	noncoding	Benign
12	109591043	T	A	T109591043A	MVK	NM_000431.4(MVK):c.768+182T>A	noncoding	Benign
12	109591060	G	A	G109591060A	MVK	NM_000431.4(MVK):c.769-181G>A	noncoding	Benign
12	109591262	C	T	C109591262T	MVK	NM_000431.4(MVK):c.790C>T:p.Leu264Phe	coding	Pathogenic
12	109591408	A	C	A109591408C	MVK	NM_000431.4(MVK):c.885+51A>C	noncoding	Benign
12	109591449	G	A	G109591449A	MVK	NM_000431.4(MVK):c.885+92G>A	noncoding	Benign
12	109591474	C	A	C109591474A	MVK	NM_000431.4(MVK):c.885+117C>A	noncoding	Benign
12	109591505	C	T	C109591505T	MVK	NM_000431.4(MVK):c.885+148C>T	noncoding	Benign
12	109595067	G	A	G109595067A	MVK	NM_000431.4(MVK):c.925G>A:p.Gly309Ser	coding	Pathogenic/Likely_pathogenic
12	109595118	G	A	G109595118A	MVK	NM_000431.4(MVK):c.976G>A:p.Gly326Arg	coding	Pathogenic
12	109595377	C	T	C109595377T	MVK	NM_000431.4(MVK):c.1039+196C>T	noncoding	Benign
12	109596335	G	A	G109596335A	MVK	NM_000431.4(MVK):c.1040-91G>A	noncoding	Benign
12	109596514	C	T	C109596514T	MVK	NM_000431.4(MVK):c.1128C>T:p.Gly376=	coding	Benign/Likely_benign
12	109596653	G	T	G109596653T	MVK	NM_000431.4(MVK):c.*76G>T	noncoding	Benign
12	109596745	C	T	C109596745T	MVK	NM_000431.4(MVK):c.*168C>T	noncoding	Benign
12	109596760	C	T	C109596760T	MVK	NM_000431.4(MVK):c.*183C>T	noncoding	Benign
12	109783830	G	A	G109783830A	TRPV4	NM_021625.5(TRPV4):c.2459-52C>T	noncoding	Benign
12	109784192	C	T	C109784192T	TRPV4	NM_021625.5(TRPV4):c.2458+124G>A	noncoding	Benign
12	109784453	C	T	C109784453T	TRPV4	NM_021625.5(TRPV4):c.2337-16G>A	noncoding	Benign/Likely_benign
12	109786469	C	T	C109786469T	TRPV4	NM_021625.5(TRPV4):c.2336+241G>A	noncoding	Benign
12	109787053	C	A	C109787053A	TRPV4	NM_021625.5(TRPV4):c.2209-216G>T	noncoding	Benign
12	109792370	G	A	G109792370A	TRPV4	NM_021625.5(TRPV4):c.1884C>T:p.Tyr628=	coding	Benign/Likely_benign
12	109792405	A	G	A109792405G	TRPV4	NM_021625.5(TRPV4):c.1849T>C:p.Phe617Leu	coding	Pathogenic
12	109792443	C	T	C109792443T	TRPV4	NM_021625.5(TRPV4):c.1825-14G>A	noncoding	Benign/Likely_benign
12	109792677	C	T	C109792677T	TRPV4	NM_021625.5(TRPV4):c.1799G>A:p.Gly600Glu	coding	Pathogenic
12	109794227	G	A	G109794227A	TRPV4	NM_021625.5(TRPV4):c.1491+102C>T	noncoding	Benign
12	109794229	G	T	G109794229T	TRPV4	NM_021625.5(TRPV4):c.1491+100C>A	noncoding	Benign
12	109794312	G	A	G109794312A	TRPV4	NM_021625.5(TRPV4):c.1491+17C>T	noncoding	Benign
12	109794356	G	A	G109794356A	TRPV4	NM_021625.5(TRPV4):c.1464C>T:p.Thr488=	coding	Benign/Likely_benign
12	109798314	C	T	C109798314T	TRPV4	NM_021625.5(TRPV4):c.1152+300G>A	noncoding	Benign
12	109798542	A	G	A109798542G	TRPV4	NM_021625.5(TRPV4):c.1152+72T>C	noncoding	Benign
12	109800791	G	A	G109800791A	TRPV4	NM_021625.5(TRPV4):c.713-33C>T	noncoding	Benign
12	109802994	G	C	G109802994C	TRPV4	NM_021625.5(TRPV4):c.709C>G:p.Arg237Gly	coding	Pathogenic
12	109808173	C	T	C109808173T	TRPV4	NM_021625.5(TRPV4):c.559+123G>A	noncoding	Benign
12	109808453	G	T	G109808453T	TRPV4	NM_021625.5(TRPV4):c.402C>A:p.Ser134Arg	coding	Benign/Likely_benign
12	109808624	T	G	T109808624G	TRPV4	NM_021625.5(TRPV4):c.387-156A>C	noncoding	Benign
12	109808652	G	A	G109808652A	TRPV4	NM_021625.5(TRPV4):c.387-184C>T	noncoding	Benign
12	109814199	C	T	C109814199T	TRPV4	NM_021625.5(TRPV4):c.386+212G>A	noncoding	Benign
12	109814552	G	A	G109814552A	TRPV4	NM_021625.5(TRPV4):c.245C>T:p.Pro82Leu	coding	Pathogenic
12	109833579	C	T	C109833579T	TRPV4	Single_allele	noncoding	Benign
12	109945336	G	A	G109945336A	GIT2	NM_057169.5(GIT2):c.1655C>T:p.Ala552Val	coding	Benign
12	109953174	T	C	T109953174C	GIT2	NM_057169.5(GIT2):c.1160A>G:p.Asn387Ser	coding	Benign
12	110127467	G	C	G110127467C	IFT81	NM_014055.4(IFT81):c.87G>C:p.Leu29Phe	coding	Pathogenic/Likely_pathogenic
12	110128091	C	T	C110128091T	IFT81	NM_014055.4(IFT81):c.190C>T:p.Arg64Ter	coding	Pathogenic
12	110128949	G	A	G110128949A	IFT81	NM_014055.4(IFT81):c.249-1G>A	noncoding	Pathogenic
12	110129102	A	G	A110129102G	IFT81	NM_014055.4(IFT81):c.401A>G:p.Asp134Gly	coding	Benign
12	110135108	G	A	G110135108A	IFT81	NM_014055.4(IFT81):c.585+95G>A	noncoding	Benign
12	110135378	C	T	C110135378T	IFT81	NM_014055.4(IFT81):c.637C>T:p.Arg213Ter	coding	Pathogenic
12	110135535	G	T	G110135535T	IFT81	NM_014055.4(IFT81):c.696+98G>T	noncoding	Benign
12	110135551	T	C	T110135551C	IFT81	NM_014055.4(IFT81):c.696+114T>C	noncoding	Benign
12	110136793	A	C	A110136793C	IFT81	NM_014055.4(IFT81):c.714A>C:p.Gln238His	coding	Benign
12	110143503	G	A	G110143503A	IFT81	NM_014055.4(IFT81):c.903G>A:p.Glu301=	coding	Benign
12	110162979	A	T	A110162979T	IFT81	NM_014055.4(IFT81):c.1102A>T:p.Lys368Ter	coding	Pathogenic
12	110163082	C	G	C110163082G	IFT81	NM_014055.4(IFT81):c.1188+17C>G	noncoding	Benign
12	110180428	C	T	C110180428T	IFT81	NM_014055.4(IFT81):c.1195C>T:p.Arg399Ter	coding	Pathogenic
12	110180430	A	G	A110180430G	IFT81	NM_014055.4(IFT81):c.1197A>G:p.Arg399=	coding	Benign
12	110180484	A	C	A110180484C	IFT81	NM_014055.4(IFT81):c.1251A>C:p.Ile417=	coding	Benign
12	110180707	A	T	A110180707T	IFT81	NM_014055.4(IFT81):c.1338+136A>T	noncoding	Benign
12	110192415	C	T	C110192415T	IFT81	NM_014055.4(IFT81):c.1468-202C>T	noncoding	Benign
12	110192555	A	C	A110192555C	IFT81	NM_014055.4(IFT81):c.1468-62A>C	noncoding	Benign
12	110192683	C	T	C110192683T	IFT81	NM_014055.4(IFT81):c.1534C>T:p.Arg512Ter	coding	Pathogenic/Likely_pathogenic
12	110208898	G	A	G110208898A	IFT81	NM_014055.4(IFT81):c.1803-273G>A	noncoding	Benign
12	110209177	G	A	G110209177A	IFT81	NM_014055.4(IFT81):c.1809G>A:p.Gln603=	coding	Benign
12	110332554	T	A	T110332554A	ATP2A2	NM_170665.4(ATP2A2):c.1096-43T>A	noncoding	Benign
12	110340936	C	T	C110340936T	ATP2A2	NM_170665.4(ATP2A2):c.2039C>T:p.Pro680Leu	coding	Pathogenic
12	110616650	C	G	C110616650G	TCTN1	NM_001082538.3(TCTN1):c.220+2248C>G	noncoding	Benign
12	110619967	G	A	G110619967A	TCTN1	NM_001082538.3(TCTN1):c.341+11G>A	noncoding	Benign
12	110620002	G	T	G110620002T	TCTN1	NM_001082538.3(TCTN1):c.341+46G>T	noncoding	Benign
12	110620091	C	T	C110620091T	TCTN1	NM_001082538.3(TCTN1):c.341+135C>T	noncoding	Benign
12	110632744	C	T	C110632744T	TCTN1	NM_001082538.3(TCTN1):c.712+185C>T	noncoding	Benign
12	110634693	A	T	A110634693T	TCTN1	NM_001082538.3(TCTN1):c.736A>T:p.Lys246Ter	coding	Pathogenic
12	110640598	C	A	C110640598A	TCTN1	NM_001082538.3(TCTN1):c.978+81C>A	noncoding	Benign
12	110647731	T	G	T110647731G	TCTN1	NM_001082538.3(TCTN1):c.1636-18T>G	noncoding	Benign
12	110910950	G	A	G110910950A	MYL2	NM_000432.4(MYL2):c.*127C>T	noncoding	Benign
12	110910960	T	G	T110910960G	MYL2	NM_000432.4(MYL2):c.*117A>C	noncoding	Benign
12	110911024	G	C	G110911024C	MYL2	NM_000432.4(MYL2):c.*53C>G	noncoding	Benign
12	110911048	G	A	G110911048A	MYL2	NM_000432.4(MYL2):c.*29C>T	noncoding	Benign
12	110911059	G	C	G110911059C	MYL2	NM_000432.4(MYL2):c.*18C>G	noncoding	Benign
12	110911093	C	T	C110911093T	MYL2	NM_000432.4(MYL2):c.485G>A:p.Gly162Glu	coding	Pathogenic
12	110911105	A	G	A110911105G	MYL2	NM_000432.4(MYL2):c.473T>C:p.Ile158Thr	coding	Pathogenic
12	110911419	A	G	A110911419G	MYL2	NM_000432.4(MYL2):c.403-244T>C	noncoding	Benign
12	110912851	A	G	A110912851G	MYL2	NM_000432.4(MYL2):c.402+245T>C	noncoding	Benign
12	110912967	C	T	C110912967T	MYL2	NM_000432.4(MYL2):c.402+129G>A	noncoding	Benign
12	110913122	G	A	G110913122A	MYL2	NM_000432.4(MYL2):c.376C>T:p.Gln126Ter	coding	Pathogenic
12	110913162	C	T	C110913162T	MYL2	NM_000432.4(MYL2):c.354-18G>A	noncoding	Benign/Likely_benign
12	110913195	G	A	G110913195A	MYL2	NM_000432.4(MYL2):c.353+51C>T	noncoding	Benign
12	110913313	C	T	C110913313T	MYL2	NM_000432.4(MYL2):c.286G>A:p.Glu96Lys	coding	Pathogenic/Likely_pathogenic
12	110913340	G	C	G110913340C	MYL2	NM_000432.4(MYL2):c.275-16C>G	noncoding	Benign/Likely_benign
12	110914133	C	T	C110914133T	MYL2	NM_000432.4(MYL2):c.274+53G>A	noncoding	Benign
12	110914450	G	C	G110914450C	MYL2	NM_000432.4(MYL2):c.170-160C>G	noncoding	Benign
12	110915958	C	T	C110915958T	MYL2	NM_000432.4(MYL2):c.94-168G>A	noncoding	Benign
12	110919145	A	G	A110919145G	MYL2	NM_000432.4(MYL2):c.52T>C:p.Phe18Leu	coding	Pathogenic/Likely_pathogenic
12	110919270	T	A	T110919270A	MYL2	NM_000432.4(MYL2):c.4-77A>T	noncoding	Benign
12	110920494	G	A	G110920494A	MYL2	NM_000432.4(MYL2):c.3+33C>T	noncoding	Benign
12	110920556	C	T	C110920556T	MYL2	NM_000432.4(MYL2):c.-27G>A	noncoding	Benign
12	110920574	C	T	C110920574T	MYL2	NM_000432.4(MYL2):c.-45G>A	noncoding	Benign
12	111304216	G	A	G111304216A	CUX2	NM_015267.4(CUX2):c.760G>A:p.Glu254Lys	coding	Benign
12	111310422	G	A	G111310422A	CUX2	NM_015267.4(CUX2):c.1640G>A:p.Gly547Glu	coding	Benign
12	111310550	G	A	G111310550A	CUX2	NM_015267.4(CUX2):c.1768G>A:p.Glu590Lys	coding	Pathogenic/Likely_pathogenic
12	111322447	G	C	G111322447C	CUX2	NM_015267.4(CUX2):c.2793G>C:p.Val931=	coding	Benign
12	111322488	C	T	C111322488T	CUX2	NM_015267.4(CUX2):c.2834C>T:p.Thr945Met	coding	Pathogenic
12	111322588	C	T	C111322588T	CUX2	NM_015267.4(CUX2):c.2926+8C>T	noncoding	Benign
12	111347782	T	C	T111347782C	CUX2	NM_015267.4(CUX2):c.3918T>C:p.Asp1306=	coding	Benign
12	111348162	C	T	C111348162T	CUX2	NM_015267.4(CUX2):c.4298C>T:p.Pro1433Leu	coding	Benign
12	111348278	G	C	G111348278C	CUX2	NM_015267.4(CUX2):c.4414G>C:p.Val1472Leu	coding	Benign
12	111417874	A	G	A111417874G	SH2B3	NM_005475.3(SH2B3):c.-27-245A>G	noncoding	Benign
12	111418146	A	G	A111418146G	SH2B3	NM_005475.3(SH2B3):c.1A>G:p.Met1Val	coding	Pathogenic
12	111418257	G	A	G111418257A	SH2B3	NM_005475.3(SH2B3):c.112G>A:p.Ala38Thr	coding	Benign
12	111418689	T	C	T111418689C	SH2B3	NM_005475.3(SH2B3):c.544T>C:p.Phe182Leu	coding	Benign
12	111418934	T	A	T111418934A	SH2B3	NM_005475.3(SH2B3):c.732+57T>A	noncoding	Benign
12	111446485	G	C	G111446485C	SH2B3	NM_005475.3(SH2B3):c.733-268G>C	noncoding	Benign
12	111446611	T	C	T111446611C	SH2B3	NM_005475.3(SH2B3):c.733-142T>C	noncoding	Benign
12	111446790	T	C	T111446790C	SH2B3	NM_005475.3(SH2B3):c.770T>C:p.Ile257Thr	coding	Benign
12	111446804	T	C	T111446804C	SH2B3	NM_005475.3(SH2B3):c.784T>C:p.Trp262Arg	coding	Benign
12	111447568	T	G	T111447568G	SH2B3	NM_005475.3(SH2B3):c.1236+24T>G	noncoding	Benign
12	111448000	C	T	C111448000T	SH2B3	NM_005475.3(SH2B3):c.1426C>T:p.Leu476Phe	coding	Benign
12	111448480	G	A	G111448480A	SH2B3	NM_005475.3(SH2B3):c.*178G>A	noncoding	Benign
12	111456268	C	T	C111456268T	ATXN2	NM_001372574.1(ATXN2):c.3043-12G>A	noncoding	Benign/Likely_benign
12	111598978	T	C	T111598978C	ATXN2	NM_001372574.1(ATXN2):c.57A>G:p.Gln19=	coding	Benign/Likely_benign
12	111598993	C	T	C111598993T	ATXN2	NM_001372574.1(ATXN2):c.42G>A:p.Gln14=	coding	Benign/Likely_benign
12	112419079	G	A	G112419079A	PTPN11	NM_002834.5(PTPN11):c.-33G>A	noncoding	Benign
12	112419167	C	T	C112419167T	PTPN11	NM_002834.5(PTPN11):c.14+42C>T	noncoding	Benign
12	112450393	T	G	T112450393G	PTPN11	NM_002834.5(PTPN11):c.213T>G:p.Phe71Leu	coding	Pathogenic/Likely_pathogenic
12	112450541	C	G	C112450541G	PTPN11	NM_002834.5(PTPN11):c.332+29C>G	noncoding	Benign
12	112453421	A	G	A112453421G	PTPN11	NM_002834.5(PTPN11):c.525+34A>G	noncoding	Benign
12	112455970	A	G	A112455970G	PTPN11	NM_002834.5(PTPN11):c.663A>G:p.Ile221Met	coding	Pathogenic/Likely_pathogenic
12	112455998	C	T	C112455998T	PTPN11	NM_002834.5(PTPN11):c.691C>T:p.Arg231Ter	coding	Pathogenic
12	112473120	C	T	C112473120T	PTPN11	NM_002834.5(PTPN11):c.853+80C>T	noncoding	Benign
12	112477833	A	G	A112477833G	PTPN11	NM_002834.5(PTPN11):c.934-24A>G	noncoding	Benign
12	112477998	G	T	G112477998T	PTPN11	NM_002834.5(PTPN11):c.1075G>T:p.Glu359Ter	coding	Pathogenic
12	112478025	A	G	A112478025G	PTPN11	NM_002834.5(PTPN11):c.1092+10A>G	noncoding	Benign
12	112486497	G	A	G112486497A	PTPN11	NM_002834.5(PTPN11):c.1247G>A:p.Trp416Ter	coding	Pathogenic
12	112486532	G	C	G112486532C	PTPN11	NM_002834.5(PTPN11):c.1282G>C:p.Val428Leu	coding	Pathogenic/Likely_pathogenic
12	112488536	G	A	G112488536A	PTPN11	NM_002834.5(PTPN11):c.1447+26G>A	noncoding	Benign
12	112504549	G	A	G112504549A	PTPN11	NM_002834.5(PTPN11):c.1713-146G>A	noncoding	Benign
12	112505673	A	C	A112505673C	PTPN11	NM_002834.5(PTPN11):c.*33-152A>C	noncoding	Benign
12	112505674	A	C	A112505674C	PTPN11	NM_002834.5(PTPN11):c.*33-151A>C	noncoding	Benign
12	112505840	C	T	C112505840T	PTPN11	NM_002834.5(PTPN11):c.*48C>T	noncoding	Benign
12	112906823	G	A	G112906823A	OAS1	Single_allele	noncoding	Benign
12	112907285	A	G	A112907285G	OAS1	NM_016816.4(OAS1):c.180+66A>G	noncoding	Benign
12	112907362	A	C	A112907362C	OAS1	NM_016816.4(OAS1):c.180+143A>C	noncoding	Benign
12	112908322	C	A	C112908322A	OAS1	NM_016816.4(OAS1):c.181-214C>A	noncoding	Benign
12	112908524	C	T	C112908524T	OAS1	NM_016816.4(OAS1):c.181-12C>T	noncoding	Benign
12	112908582	C	T	C112908582T	OAS1	NM_016816.4(OAS1):c.227C>T:p.Ala76Val	coding	Pathogenic
12	112908717	T	G	T112908717G	OAS1	NM_016816.4(OAS1):c.362T>G:p.Val121Gly	coding	Pathogenic
12	112908748	G	C	G112908748C	OAS1	NM_016816.4(OAS1):c.393G>C:p.Ala131=	coding	Benign
12	112908783	A	G	A112908783G	OAS1	NM_016816.4(OAS1):c.428A>G:p.Glu143Gly	coding	Benign
12	112910849	C	T	C112910849T	OAS1	NM_016816.4(OAS1):c.470-202C>T	noncoding	Benign
12	112910856	C	T	C112910856T	OAS1	NM_016816.4(OAS1):c.470-195C>T	noncoding	Benign
12	112910943	G	C	G112910943C	OAS1	NM_016816.4(OAS1):c.470-108G>C	noncoding	Benign
12	112911044	C	T	C112911044T	OAS1	NM_016816.4(OAS1):c.470-7C>T	noncoding	Benign
12	112911045	G	A	G112911045A	OAS1	NM_016816.4(OAS1):c.470-6G>A	noncoding	Benign
12	112911065	G	A	G112911065A	OAS1	NM_016816.4(OAS1):c.484G>A:p.Gly162Ser	coding	Benign
12	112911115	C	T	C112911115T	OAS1	NM_016816.4(OAS1):c.534C>T:p.Thr178=	coding	Benign
12	112911173	C	G	C112911173G	OAS1	NM_016816.4(OAS1):c.592C>G:p.Leu198Val	coding	Pathogenic
12	112911294	G	A	G112911294A	OAS1	NM_016816.4(OAS1):c.654+59G>A	noncoding	Benign
12	112916614	G	A	G112916614A	OAS1	NM_016816.4(OAS1):c.760G>A:p.Gly254Arg	coding	Benign
12	112916625	G	A	G112916625A	OAS1	NM_016816.4(OAS1):c.771G>A:p.Thr257=	coding	Benign
12	112916730	G	A	G112916730A	OAS1	NM_016816.4(OAS1):c.876G>A:p.Thr292=	coding	Benign
12	112916748	C	T	C112916748T	OAS1	NM_016816.4(OAS1):c.884+10C>T	noncoding	Benign
12	112917565	G	A	G112917565A	OAS1	NM_016816.4(OAS1):c.903G>A:p.Pro301=	coding	Benign
12	112919388	G	A	G112919388A	OAS1	NM_016816.4(OAS1):c.1039-1G>A	noncoding	Benign/Likely_benign
12	112919397	C	T	C112919397T	OAS1	NM_016816.4(OAS1):c.1047C>T:p.Ser349=	coding	Benign
12	112919404	G	A	G112919404A	OAS1	NM_016816.4(OAS1):c.1054G>A:p.Ala352Thr	coding	Benign
12	112919411	A	G	A112919411G	OAS1	NM_016816.4(OAS1):c.1061A>G:p.Asp354Gly	coding	Benign
12	112919432	G	C	G112919432C	OAS1	NM_016816.4(OAS1):c.1082G>C:p.Arg361Thr	coding	Benign
12	112919432	G	T	G112919432T	OAS1	NM_016816.4(OAS1):c.1082G>T:p.Arg361Met	coding	Benign
12	112919502	G	A	G112919502A	OAS1	NM_016816.4(OAS1):c.1152G>A:p.Gln384=	coding	Benign
12	112919637	G	A	G112919637A	OAS1	NM_016816.4(OAS1):c.*84G>A	coding	Benign
12	112948974	C	G	C112948974G	OAS3	NM_006187.4(OAS3):c.1143C>G:p.Ser381Arg	coding	Benign
12	113115656	G	A	G113115656A	RASAL1	NM_001301202.2(RASAL1):c.982C>T:p.Arg328Trp	coding	Benign
12	114355664	G	C	G114355664C	TBX5	NM_181486.4(TBX5):c.1425C>G:p.Gly475=	coding	Benign
12	114355932	G	T	G114355932T	TBX5	NM_181486.4(TBX5):c.1157C>A:p.Pro386His	coding	Benign/Likely_benign
12	114356008	G	A	G114356008A	TBX5	NM_181486.4(TBX5):c.1081C>T:p.Gln361Ter	coding	Pathogenic
12	114356052	G	T	G114356052T	TBX5	NM_181486.4(TBX5):c.1037C>A:p.Ser346Ter	coding	Pathogenic
12	114356252	T	G	T114356252G	TBX5	NM_181486.4(TBX5):c.983-146A>C	noncoding	Benign
12	114356398	T	C	T114356398C	TBX5	NM_181486.4(TBX5):c.983-292A>G	noncoding	Benign
12	114366149	G	A	G114366149A	TBX5	NM_181486.4(TBX5):c.982+16C>T	noncoding	Benign/Likely_benign
12	114366163	A	C	A114366163C	TBX5	NM_181486.4(TBX5):c.982+2T>G	noncoding	Pathogenic
12	114366164	C	T	C114366164T	TBX5	NM_181486.4(TBX5):c.982+1G>A	noncoding	Pathogenic
12	114366199	C	T	C114366199T	TBX5	NM_181486.4(TBX5):c.948G>A:p.Glu316=	coding	Benign/Likely_benign
12	114366382	A	T	A114366382T	TBX5	NM_181486.4(TBX5):c.765T>A:p.Tyr255Ter	coding	Pathogenic
12	114366387	C	A	C114366387A	TBX5	NM_181486.4(TBX5):c.760G>T:p.Glu254Ter	coding	Pathogenic
12	114366393	T	C	T114366393C	TBX5	NM_181486.4(TBX5):c.756-2A>G	noncoding	Pathogenic/Likely_pathogenic
12	114385382	G	T	G114385382T	TBX5	NM_181486.4(TBX5):c.755+94C>A	noncoding	Benign
12	114385484	T	C	T114385484C	TBX5	NM_181486.4(TBX5):c.747A>G:p.Arg249=	coding	Benign/Likely_benign
12	114385540	G	A	G114385540A	TBX5	NM_181486.4(TBX5):c.691C>T:p.Pro231Ser	coding	Pathogenic
12	114385728	A	G	A114385728G	TBX5	NM_181486.4(TBX5):c.664-161T>C	noncoding	Benign
12	114394555	T	C	T114394555C	TBX5	NM_181486.4(TBX5):c.663+186A>G	noncoding	Benign
12	114394791	C	A	C114394791A	TBX5	NM_181486.4(TBX5):c.613G>T:p.Val205Phe	coding	Benign
12	114399512	C	T	C114399512T	TBX5	NM_181486.4(TBX5):c.362+1G>A	noncoding	Pathogenic
12	114399538	T	A	T114399538A	TBX5	NM_181486.4(TBX5):c.337A>T:p.Arg113Ter	coding	Pathogenic
12	114399613	T	A	T114399613A	TBX5	NM_181486.4(TBX5):c.262A>T:p.Lys88Ter	coding	Pathogenic
12	114399623	A	T	A114399623T	TBX5	NM_181486.4(TBX5):c.252T>A:p.Phe84Leu	coding	Pathogenic
12	114399631	G	T	G114399631T	TBX5	NM_181486.4(TBX5):c.244C>A:p.Arg82=	coding	Benign
12	114399634	T	C	T114399634C	TBX5	NM_181486.4(TBX5):c.243-2A>G	noncoding	Pathogenic
12	114399916	A	G	A114399916G	TBX5	NM_181486.4(TBX5):c.243-284T>C	noncoding	Benign
12	114399956	G	A	G114399956A	TBX5	NM_181486.4(TBX5):c.243-324C>T	noncoding	Benign
12	114401825	C	T	C114401825T	TBX5	NM_181486.4(TBX5):c.242+1G>A	noncoding	Pathogenic
12	114401939	A	T	A114401939T	TBX5	NM_181486.4(TBX5):c.148-19T>A	noncoding	Benign
12	114402126	T	G	T114402126G	TBX5	NM_181486.4(TBX5):c.148-206A>C	noncoding	Benign
12	114403739	G	T	G114403739T	TBX5	NM_181486.4(TBX5):c.147+13C>A	noncoding	Benign
12	114403842	T	C	T114403842C	TBX5	NM_181486.4(TBX5):c.57A>G:p.Ala19=	coding	Benign/Likely_benign
12	114404191	A	G	A114404191G	TBX5	NM_181486.4(TBX5):c.-38-255T>C	noncoding	Benign
12	114407701	T	C	T114407701C	TBX5	NM_000192.3(TBX5):c.-39+113A>G	noncoding	Benign
12	114671868	C	A	C114671868A	TBX3	NM_005996.4(TBX3):c.2145G>T:p.Pro715=	coding	Benign
12	114672447	T	G	T114672447G	TBX3	NM_005996.4(TBX3):c.1711-145A>C	noncoding	Benign
12	114673940	C	A	C114673940A	TBX3	NM_005996.4(TBX3):c.1710+225G>T	noncoding	Benign
12	114676231	C	T	C114676231T	TBX3	NM_005996.4(TBX3):c.1039+82G>A	noncoding	Benign
12	114676730	G	A	G114676730A	TBX3	NM_005996.4(TBX3):c.882-260C>T	noncoding	Benign
12	114679223	G	C	G114679223C	TBX3	NM_005996.4(TBX3):c.804+282C>G	noncoding	Benign
12	114679224	G	T	G114679224T	TBX3	NM_005996.4(TBX3):c.804+281C>A	noncoding	Benign
12	114679225	G	T	G114679225T	TBX3	NM_005996.4(TBX3):c.804+280C>A	noncoding	Benign
12	114679520	T	C	T114679520C	TBX3	NM_005996.4(TBX3):c.789A>G:p.Ala263=	coding	Benign
12	114681192	G	A	G114681192A	TBX3	NM_005996.4(TBX3):c.390-46C>T	noncoding	Benign
12	114684404	A	G	A114684404G	TBX3	Single_allele	noncoding	Benign
12	115961255	T	C	T115961255C	MED13L	NM_015335.5(MED13L):c.*11A>G	noncoding	Benign
12	115966115	G	A	G115966115A	MED13L	NM_015335.5(MED13L):c.6354C>T:p.Pro2118=	coding	Benign
12	115968920	G	A	G115968920A	MED13L	NM_015335.5(MED13L):c.6225+20C>T	noncoding	Benign
12	115970452	A	T	A115970452T	MED13L	NM_015335.5(MED13L):c.6067+142T>A	noncoding	Benign
12	115970720	G	A	G115970720A	MED13L	NM_015335.5(MED13L):c.5941C>T:p.Gln1981Ter	coding	Pathogenic
12	115970733	A	G	A115970733G	MED13L	NM_015335.5(MED13L):c.5928T>C:p.Thr1976=	coding	Benign
12	115970812	C	G	C115970812G	MED13L	NM_015335.5(MED13L):c.5891-42G>C	noncoding	Benign
12	115972067	A	C	A115972067C	MED13L	NM_015335.5(MED13L):c.5890+11T>G	noncoding	Benign
12	115972159	T	G	T115972159G	MED13L	NM_015335.5(MED13L):c.5809A>C:p.Ile1937Leu	coding	Benign/Likely_benign
12	115972166	C	T	C115972166T	MED13L	NM_015335.5(MED13L):c.5802G>A:p.Met1934Ile	coding	Benign/Likely_benign
12	115972200	G	A	G115972200A	MED13L	NM_015335.5(MED13L):c.5768C>T:p.Thr1923Ile	coding	Benign/Likely_benign
12	115975116	A	T	A115975116T	MED13L	NM_015335.5(MED13L):c.5731+55T>A	noncoding	Benign
12	115975117	T	C	T115975117C	MED13L	NM_015335.5(MED13L):c.5731+54A>G	noncoding	Benign
12	115975601	G	A	G115975601A	MED13L	NM_015335.5(MED13L):c.5502C>T:p.His1834=	coding	Benign/Likely_benign
12	115975751	C	T	C115975751T	MED13L	NM_015335.5(MED13L):c.5365-13G>A	noncoding	Benign
12	115975760	A	G	A115975760G	MED13L	NM_015335.5(MED13L):c.5365-22T>C	noncoding	Benign
12	115976068	T	A	T115976068A	MED13L	NM_015335.5(MED13L):c.5365-330A>T	noncoding	Benign
12	115980568	T	C	T115980568C	MED13L	NM_015335.5(MED13L):c.5364+182A>G	noncoding	Benign
12	115980853	A	G	A115980853G	MED13L	NM_015335.5(MED13L):c.5261T>C:p.Val1754Ala	coding	Benign
12	115980971	C	A	C115980971A	MED13L	NM_015335.5(MED13L):c.5176-33G>T	noncoding	Benign
12	115981212	C	T	C115981212T	MED13L	NM_015335.5(MED13L):c.5176-274G>A	noncoding	Benign
12	115982363	A	T	A115982363T	MED13L	NM_015335.5(MED13L):c.5175+21T>A	noncoding	Benign
12	115982501	C	T	C115982501T	MED13L	NM_015335.5(MED13L):c.5058G>A:p.Thr1686=	coding	Benign/Likely_benign
12	115982643	T	C	T115982643C	MED13L	NM_015335.5(MED13L):c.4956-40A>G	noncoding	Benign
12	115982653	G	A	G115982653A	MED13L	NM_015335.5(MED13L):c.4956-50C>T	noncoding	Benign
12	115983219	G	C	G115983219C	MED13L	NM_015335.5(MED13L):c.4853C>G:p.Thr1618Ser	coding	Benign/Likely_benign
12	115983375	G	A	G115983375A	MED13L	NM_015335.5(MED13L):c.4697C>T:p.Ser1566Leu	coding	Benign/Likely_benign
12	115983381	G	A	G115983381A	MED13L	NM_015335.5(MED13L):c.4691C>T:p.Pro1564Leu	coding	Benign/Likely_benign
12	115983465	G	A	G115983465A	MED13L	NM_015335.5(MED13L):c.4607C>T:p.Ala1536Val	coding	Benign
12	115983589	C	T	C115983589T	MED13L	NM_015335.5(MED13L):c.4532-49G>A	noncoding	Benign
12	115984189	G	A	G115984189A	MED13L	NM_015335.5(MED13L):c.4522C>T:p.His1508Tyr	coding	Benign/Likely_benign
12	115984252	G	T	G115984252T	MED13L	NM_015335.5(MED13L):c.4459C>A:p.Pro1487Thr	coding	Benign/Likely_benign
12	115984294	G	A	G115984294A	MED13L	NM_015335.5(MED13L):c.4417C>T:p.Gln1473Ter	coding	Pathogenic
12	115984315	G	A	G115984315A	MED13L	NM_015335.5(MED13L):c.4396C>T:p.Arg1466Cys	coding	Benign/Likely_benign
12	115986244	A	G	A115986244G	MED13L	NM_015335.5(MED13L):c.4338+22T>C	noncoding	Benign
12	115986391	C	A	C115986391A	MED13L	NM_015335.5(MED13L):c.4213G>T:p.Glu1405Ter	coding	Pathogenic
12	115986860	A	G	A115986860G	MED13L	NM_015335.5(MED13L):c.4114+249T>C	noncoding	Benign
12	115987182	C	T	C115987182T	MED13L	NM_015335.5(MED13L):c.4041G>A:p.Trp1347Ter	coding	Pathogenic
12	115991135	C	T	C115991135T	MED13L	NM_015335.5(MED13L):c.3819G>A:p.Thr1273=	coding	Benign/Likely_benign
12	115991202	C	T	C115991202T	MED13L	NM_015335.5(MED13L):c.3752G>A:p.Arg1251His	coding	Benign/Likely_benign
12	115991525	C	T	C115991525T	MED13L	NM_015335.5(MED13L):c.3429G>A:p.Ala1143=	coding	Benign
12	115991624	A	G	A115991624G	MED13L	NM_015335.5(MED13L):c.3330T>C:p.Tyr1110=	coding	Benign
12	115991749	G	A	G115991749A	MED13L	NM_015335.5(MED13L):c.3205C>T:p.Gln1069Ter	coding	Pathogenic
12	115991884	A	G	A115991884G	MED13L	NM_015335.5(MED13L):c.3070T>C:p.Leu1024=	coding	Benign
12	115991984	G	A	G115991984A	MED13L	NM_015335.5(MED13L):c.2997-27C>T	noncoding	Benign
12	115992096	T	G	T115992096G	MED13L	NM_015335.5(MED13L):c.2997-139A>C	noncoding	Benign
12	115996475	C	T	C115996475T	MED13L	NM_015335.5(MED13L):c.2996+1G>A	noncoding	Pathogenic/Likely_pathogenic
12	115996522	G	A	G115996522A	MED13L	NM_015335.5(MED13L):c.2950C>T:p.Gln984Ter	coding	Pathogenic
12	115996542	G	A	G115996542A	MED13L	NM_015335.5(MED13L):c.2930C>T:p.Ala977Val	coding	Pathogenic
12	115997203	G	A	G115997203A	MED13L	NM_015335.5(MED13L):c.2597C>T:p.Pro866Leu	coding	Pathogenic/Likely_pathogenic
12	115997221	T	C	T115997221C	MED13L	NM_015335.5(MED13L):c.2579A>G:p.Asp860Gly	coding	Pathogenic/Likely_pathogenic
12	115997304	A	T	A115997304T	MED13L	NM_015335.5(MED13L):c.2570-74T>A	noncoding	Benign
12	116005658	A	G	A116005658G	MED13L	NM_015335.5(MED13L):c.2469+211T>C	noncoding	Benign
12	116005987	C	T	C116005987T	MED13L	NM_015335.5(MED13L):c.2351G>A:p.Arg784Gln	coding	Benign/Likely_benign
12	116006418	A	G	A116006418G	MED13L	NM_015335.5(MED13L):c.2239-7T>C	noncoding	Benign
12	116006427	A	G	A116006427G	MED13L	NM_015335.5(MED13L):c.2239-16T>C	noncoding	Benign
12	116007504	T	C	T116007504C	MED13L	NM_015335.5(MED13L):c.2145A>G:p.Pro715=	coding	Benign
12	116007578	G	A	G116007578A	MED13L	NM_015335.5(MED13L):c.2071C>T:p.Gln691Ter	coding	Pathogenic
12	116007584	G	A	G116007584A	MED13L	NM_015335.5(MED13L):c.2065C>T:p.Gln689Ter	coding	Pathogenic/Likely_pathogenic
12	116007630	T	A	T116007630A	MED13L	NM_015335.5(MED13L):c.2019A>T:p.Leu673Phe	coding	Benign
12	116007638	T	A	T116007638A	MED13L	NM_015335.5(MED13L):c.2013-2A>T	noncoding	Benign
12	116007641	A	G	A116007641G	MED13L	NM_015335.5(MED13L):c.2013-5T>C	noncoding	Benign/Likely_benign
12	116007643	G	A	G116007643A	MED13L	NM_015335.5(MED13L):c.2013-7C>T	noncoding	Benign/Likely_benign
12	116007645	C	A	C116007645A	MED13L	NM_015335.5(MED13L):c.2013-9G>T	noncoding	Benign
12	116007681	A	G	A116007681G	MED13L	NM_015335.5(MED13L):c.2013-45T>C	noncoding	Benign
12	116008354	C	G	C116008354G	MED13L	NM_015335.5(MED13L):c.2012+47G>C	noncoding	Benign
12	116008443	T	A	T116008443A	MED13L	NM_015335.5(MED13L):c.1970A>T:p.Asp657Val	coding	Benign/Likely_benign
12	116008503	C	T	C116008503T	MED13L	NM_015335.5(MED13L):c.1910G>A:p.Arg637His	coding	Benign/Likely_benign
12	116008536	G	A	G116008536A	MED13L	NM_015335.5(MED13L):c.1877C>T:p.Pro626Leu	coding	Benign/Likely_benign
12	116008640	C	T	C116008640T	MED13L	NM_015335.5(MED13L):c.1773G>A:p.Gln591=	coding	Benign
12	116008729	G	A	G116008729A	MED13L	NM_015335.5(MED13L):c.1684C>T:p.Gln562Ter	coding	Pathogenic
12	116008812	C	A	C116008812A	MED13L	NM_015335.5(MED13L):c.1601G>T:p.Arg534Ile	coding	Benign
12	116008849	T	C	T116008849C	MED13L	NM_015335.5(MED13L):c.1564A>G:p.Ser522Gly	coding	Benign/Likely_benign
12	116008897	G	A	G116008897A	MED13L	NM_015335.5(MED13L):c.1516C>T:p.Gln506Ter	coding	Pathogenic
12	116008966	G	T	G116008966T	MED13L	NM_015335.5(MED13L):c.1447C>A:p.Pro483Thr	coding	Benign
12	116009095	G	A	G116009095A	MED13L	NM_015335.5(MED13L):c.1318C>T:p.Arg440Ter	coding	Pathogenic
12	116012659	A	G	A116012659G	MED13L	NM_015335.5(MED13L):c.1280+138T>C	noncoding	Benign
12	116012753	G	A	G116012753A	MED13L	NM_015335.5(MED13L):c.1280+44C>T	noncoding	Benign
12	116012796	C	T	C116012796T	MED13L	NM_015335.5(MED13L):c.1280+1G>A	noncoding	Pathogenic
12	116015104	C	T	C116015104T	MED13L	NM_015335.5(MED13L):c.1175+5G>A	noncoding	Benign/Likely_benign
12	116015160	T	C	T116015160C	MED13L	NM_015335.5(MED13L):c.1124A>G:p.His375Arg	coding	Benign/Likely_benign
12	116015288	C	T	C116015288T	MED13L	NM_015335.5(MED13L):c.1010-14G>A	noncoding	Benign
12	116015306	T	C	T116015306C	MED13L	NM_015335.5(MED13L):c.1010-32A>G	noncoding	Benign
12	116019212	G	C	G116019212C	MED13L	NM_015335.5(MED13L):c.1009+12C>G	noncoding	Benign
12	116019999	T	G	T116019999G	MED13L	NM_015335.5(MED13L):c.626-27A>C	noncoding	Benign
12	116022528	G	A	G116022528A	MED13L	NM_015335.5(MED13L):c.553C>T:p.Gln185Ter	coding	Pathogenic
12	116111402	C	T	C116111402T	MED13L	NM_015335.5(MED13L):c.395+26G>A	noncoding	Benign
12	116111427	C	T	C116111427T	MED13L	NM_015335.5(MED13L):c.395+1G>A	noncoding	Pathogenic/Likely_pathogenic
12	116111494	C	T	C116111494T	MED13L	NM_015335.5(MED13L):c.329G>A:p.Trp110Ter	coding	Pathogenic
12	116237247	T	G	T116237247G	MED13L	NM_015335.5(MED13L):c.310+221A>C	noncoding	Benign
12	116237750	C	G	C116237750G	MED13L	NM_015335.5(MED13L):c.73-45G>C	noncoding	Benign
12	116237884	C	G	C116237884G	MED13L	NM_015335.5(MED13L):c.73-179G>C	noncoding	Benign
12	116277033	C	G	C116277033G	MED13L	NM_015335.5(MED13L):c.72+27G>C	noncoding	Benign
12	116277050	G	A	G116277050A	MED13L	NM_015335.5(MED13L):c.72+10C>T	noncoding	Benign/Likely_benign
12	117469644	T	C	T117469644C	KSR2	NM_173598.6(KSR2):c.2846+18A>G	noncoding	Benign
12	117471192	G	A	G117471192A	KSR2	NM_173598.6(KSR2):c.2711C>T:p.Ser904Leu	coding	Benign
12	117531676	G	A	G117531676A	KSR2	NM_173598.6(KSR2):c.1719C>T:p.Phe573=	coding	Benign
12	117531702	G	A	G117531702A	KSR2	NM_173598.6(KSR2):c.1693C>T:p.His565Tyr	coding	Benign
12	117539898	A	G	A117539898G	KSR2	NM_173598.6(KSR2):c.1519-11T>C	noncoding	Benign
12	117555259	C	T	C117555259T	KSR2	NM_173598.6(KSR2):c.1428G>A:p.Pro476=	coding	Benign
12	117582310	G	A	G117582310A	KSR2	NM_173598.6(KSR2):c.1221C>T:p.Leu407=	coding	Benign
12	117582331	C	T	C117582331T	KSR2	NM_173598.6(KSR2):c.1200G>A:p.Pro400=	coding	Benign
12	117761028	G	C	G117761028C	KSR2	NM_173598.6(KSR2):c.969C>G:p.Asp323Glu	coding	Benign
12	117761481	C	G	C117761481G	KSR2	NM_173598.6(KSR2):c.516G>C:p.Thr172=	coding	Benign
12	117855415	G	A	G117855415A	KSR2	NM_173598.6(KSR2):c.472+13C>T	noncoding	Benign
12	117860318	G	A	G117860318A	KSR2	NM_173598.6(KSR2):c.294C>T:p.Ile98=	coding	Benign
12	119178480	T	C	T119178480C	HSPB8	Single_allele	noncoding	Benign
12	119178591	A	G	A119178591G	HSPB8	Single_allele	noncoding	Benign
12	119179459	C	T	C119179459T	HSPB8	NM_014365.3(HSPB8):c.147C>T:p.Pro49=	coding	Benign/Likely_benign
12	119179545	G	T	G119179545T	HSPB8	NM_014365.3(HSPB8):c.233G>T:p.Arg78Met	coding	Benign/Likely_benign
12	119179772	G	T	G119179772T	HSPB8	NM_014365.3(HSPB8):c.367+93G>T	noncoding	Benign
12	119187171	C	T	C119187171T	HSPB8	NM_014365.3(HSPB8):c.431+83C>T	noncoding	Benign
12	119193565	G	A	G119193565A	HSPB8	NM_014365.3(HSPB8):c.432-134G>A	noncoding	Benign
12	119193766	G	A	G119193766A	HSPB8	NM_014365.3(HSPB8):c.499G>A:p.Glu167Lys	coding	Benign/Likely_benign
12	119194908	C	T	C119194908T	HSPB8	Single_allele	noncoding	Benign
12	119697525	G	A	G119697525A	CIT	NM_001206999.2(CIT):c.5882+134C>T	noncoding	Benign
12	119697912	G	T	G119697912T	CIT	NM_001206999.2(CIT):c.5702+64C>A	noncoding	Benign
12	119698124	T	C	T119698124C	CIT	NM_001206999.2(CIT):c.5624-70A>G	noncoding	Benign
12	119700874	G	C	G119700874C	CIT	NM_001206999.2(CIT):c.5543-49C>G	noncoding	Benign
12	119701048	A	G	A119701048G	CIT	NM_001206999.2(CIT):c.5543-223T>C	noncoding	Benign
12	119701060	G	A	G119701060A	CIT	NM_001206999.2(CIT):c.5543-235C>T	noncoding	Benign
12	119701440	C	G	C119701440G	CIT	NM_001206999.2(CIT):c.5542+184G>C	noncoding	Benign
12	119701896	T	G	T119701896G	CIT	NM_001206999.2(CIT):c.5367A>C:p.Gly1789=	coding	Benign
12	119704560	C	A	C119704560A	CIT	NM_001206999.2(CIT):c.5212-105G>T	noncoding	Benign
12	119704678	C	T	C119704678T	CIT	NM_001206999.2(CIT):c.5212-223G>A	noncoding	Benign
12	119708182	G	C	G119708182C	CIT	NM_001206999.2(CIT):c.5208C>G:p.Gly1736=	coding	Benign
12	119708221	A	T	A119708221T	CIT	NM_001206999.2(CIT):c.5169T>A:p.Ile1723=	coding	Benign
12	119708487	T	A	T119708487A	CIT	NM_001206999.2(CIT):c.5072-169A>T	noncoding	Benign
12	119710521	G	A	G119710521A	CIT	NM_001206999.2(CIT):c.4935+19C>T	noncoding	Benign/Likely_benign
12	119710558	C	T	C119710558T	CIT	NM_001206999.2(CIT):c.4917G>A:p.Thr1639=	coding	Benign
12	119710676	A	G	A119710676G	CIT	NM_001206999.2(CIT):c.4855-56T>C	noncoding	Benign
12	119712044	G	C	G119712044C	CIT	NM_001206999.2(CIT):c.4854+134C>G	noncoding	Benign
12	119712391	C	T	C119712391T	CIT	NM_001206999.2(CIT):c.4685-44G>A	noncoding	Benign
12	119713099	T	C	T119713099C	CIT	NM_001206999.2(CIT):c.4579+104A>G	noncoding	Benign
12	119713366	G	C	G119713366C	CIT	NM_001206999.2(CIT):c.4488-72C>G	noncoding	Benign
12	119713688	T	C	T119713688C	CIT	NM_001206999.2(CIT):c.4307-40A>G	coding	Benign
12	119714595	C	T	C119714595T	CIT	NM_001206999.2(CIT):c.4169-261G>A	noncoding	Benign
12	119718020	A	G	A119718020G	CIT	NM_001206999.2(CIT):c.4168+225T>C	noncoding	Benign
12	119718336	G	A	G119718336A	CIT	NM_001206999.2(CIT):c.4077C>T:p.Ser1359=	coding	Benign
12	119718603	G	A	G119718603A	CIT	NM_001206999.2(CIT):c.4003+96C>T	noncoding	Benign
12	119720398	C	T	C119720398T	CIT	NM_001206999.2(CIT):c.3840+80G>A	noncoding	Benign
12	119720708	A	C	A119720708C	CIT	NM_001206999.2(CIT):c.3733-123T>G	noncoding	Benign
12	119720715	A	T	A119720715T	CIT	NM_001206999.2(CIT):c.3733-130T>A	noncoding	Benign
12	119720724	G	T	G119720724T	CIT	NM_001206999.2(CIT):c.3733-139C>A	noncoding	Benign
12	119720736	G	A	G119720736A	CIT	NM_001206999.2(CIT):c.3733-151C>T	noncoding	Benign
12	119728645	G	C	G119728645C	CIT	NM_001206999.2(CIT):c.3487-39C>G	noncoding	Benign
12	119728692	G	A	G119728692A	CIT	NM_001206999.2(CIT):c.3487-86C>T	noncoding	Benign
12	119730715	G	A	G119730715A	CIT	NM_001206999.2(CIT):c.3351-85C>T	noncoding	Benign
12	119734124	G	A	G119734124A	CIT	NM_001206999.2(CIT):c.3350+40C>T	noncoding	Benign
12	119734190	T	C	T119734190C	CIT	NM_001206999.2(CIT):c.3324A>G:p.Arg1108=	coding	Benign
12	119734368	G	A	G119734368A	CIT	NM_001206999.2(CIT):c.3157-11C>T	noncoding	Benign
12	119735091	G	A	G119735091A	CIT	NM_001206999.2(CIT):c.3156+69C>T	noncoding	Benign
12	119735101	C	A	C119735101A	CIT	NM_001206999.2(CIT):c.3156+59G>T	noncoding	Benign
12	119751883	A	G	A119751883G	CIT	NM_001206999.2(CIT):c.2904+167T>C	noncoding	Benign
12	119752074	A	G	A119752074G	CIT	NM_001206999.2(CIT):c.2880T>C:p.Ala960=	coding	Benign
12	119752083	T	C	T119752083C	CIT	NM_001206999.2(CIT):c.2871A>G:p.Thr957=	coding	Benign
12	119757278	C	G	C119757278G	CIT	NM_001206999.2(CIT):c.2706+93G>C	noncoding	Benign
12	119757818	C	T	C119757818T	CIT	NM_001206999.2(CIT):c.2532-273G>A	noncoding	Benign
12	119758409	C	G	C119758409G	CIT	NM_001206999.2(CIT):c.2531+182G>C	noncoding	Benign
12	119761210	G	A	G119761210A	CIT	NM_001206999.2(CIT):c.2305-155C>T	noncoding	Benign
12	119767291	T	G	T119767291G	CIT	NM_001206999.2(CIT):c.2209-109A>C	noncoding	Benign
12	119770976	G	A	G119770976A	CIT	NM_001206999.2(CIT):c.2083-66C>T	noncoding	Benign
12	119771207	T	C	T119771207C	CIT	NM_001206999.2(CIT):c.2083-297A>G	noncoding	Benign
12	119772466	A	C	A119772466C	CIT	NM_001206999.2(CIT):c.2082+304T>G	noncoding	Benign
12	119772533	G	A	G119772533A	CIT	NM_001206999.2(CIT):c.2082+237C>T	noncoding	Benign
12	119772718	C	A	C119772718A	CIT	NM_001206999.2(CIT):c.2082+52G>T	noncoding	Benign
12	119772732	G	A	G119772732A	CIT	NM_001206999.2(CIT):c.2082+38C>T	noncoding	Benign
12	119776032	A	G	A119776032G	CIT	NM_001206999.2(CIT):c.1888-193T>C	noncoding	Benign
12	119782242	C	T	C119782242T	CIT	NM_001206999.2(CIT):c.1665+276G>A	noncoding	Benign
12	119782478	A	G	A119782478G	CIT	NM_001206999.2(CIT):c.1665+40T>C	noncoding	Benign
12	119782785	C	T	C119782785T	CIT	NM_001206999.2(CIT):c.1546-148G>A	noncoding	Benign
12	119783648	G	A	G119783648A	CIT	NM_001206999.2(CIT):c.1545+260C>T	noncoding	Benign
12	119783738	C	T	C119783738T	CIT	NM_001206999.2(CIT):c.1545+170G>A	noncoding	Benign
12	119783832	C	T	C119783832T	CIT	NM_001206999.2(CIT):c.1545+76G>A	noncoding	Benign
12	119823061	C	T	C119823061T	CIT	NM_001206999.2(CIT):c.958-88G>A	noncoding	Benign
12	119823237	A	G	A119823237G	CIT	NM_001206999.2(CIT):c.958-264T>C	noncoding	Benign
12	119824891	C	T	C119824891T	CIT	NM_001206999.2(CIT):c.957+274G>A	noncoding	Benign
12	119825164	C	A	C119825164A	CIT	NM_001206999.2(CIT):c.957+1G>T	noncoding	Pathogenic
12	119825199	G	C	G119825199C	CIT	NM_001206999.2(CIT):c.923C>G:p.Ser308Cys	coding	Benign
12	119832724	T	C	T119832724C	CIT	NM_001206999.2(CIT):c.753+47A>G	noncoding	Benign
12	119832834	G	A	G119832834A	CIT	NM_001206999.2(CIT):c.690C>T:p.Asp230=	coding	Benign
12	119833807	T	C	T119833807C	CIT	NM_001206999.2(CIT):c.659+279A>G	noncoding	Benign
12	119857257	C	T	C119857257T	CIT	NM_001206999.2(CIT):c.414+266G>A	noncoding	Benign
12	119857294	A	C	A119857294C	CIT	NM_001206999.2(CIT):c.414+229T>G	noncoding	Benign
12	119857421	G	A	G119857421A	CIT	NM_001206999.2(CIT):c.414+102C>T	noncoding	Benign
12	119857836	T	C	T119857836C	CIT	NM_001206999.2(CIT):c.239-138A>G	noncoding	Benign
12	119876149	C	T	C119876149T	CIT	NM_001206999.2(CIT):c.20G>A:p.Gly7Glu	coding	Benign
12	119876500	C	T	C119876500T	CIT	NM_001206999.2(CIT):c.-13-319G>A	noncoding	Benign
12	120437987	C	T	C120437987T	COX6A1	Single_allele	noncoding	Benign
12	120438241	G	A	G120438241A	COX6A1	NM_004373.4(COX6A1):c.103+12G>A	noncoding	Benign/Likely_benign
12	120438373	C	T	C120438373T	COX6A1	NM_004373.4(COX6A1):c.104-6C>T	noncoding	Benign
12	120440429	T	C	T120440429C	COX6A1	NM_004373.4(COX6A1):c.247-25T>C	noncoding	Benign
12	120440456	G	A	G120440456A	COX6A1	NM_004373.4(COX6A1):c.249G>A:p.Pro83=	coding	Benign/Likely_benign
12	120440727	T	C	T120440727C	COX6A1	NM_004373.4(COX6A1):c.*190T>C	noncoding	Benign
12	120446488	C	T	C120446488T	GATC	NM_176818.3(GATC):c.8C>T:p.Ser3Leu	coding	Benign
12	120446525	C	T	C120446525T	GATC	NM_176818.3(GATC):c.45C>T:p.Gly15=	coding	Benign
12	120456882	C	T	C120456882T	GATC	NM_176818.3(GATC):c.255-194C>T	noncoding	Benign
12	120459969	T	G	T120459969G	GATC	NM_176818.3(GATC):c.*10T>G	noncoding	Benign
12	120691123	C	T	C120691123T	MLEC	NM_014730.4(MLEC):c.236-2968C>T	noncoding	Benign
12	120694297	C	T	C120694297T	MLEC	NM_014730.4(MLEC):c.414+28C>T	noncoding	Benign
12	120725458	C	T	C120725458T	ACADS	Single_allele	noncoding	Benign
12	120725537	G	T	G120725537T	ACADS	Single_allele	noncoding	Benign
12	120725570	T	C	T120725570C	ACADS	Single_allele	noncoding	Benign
12	120725715	C	A	C120725715A	ACADS	Single_allele	noncoding	Benign
12	120726849	C	T	C120726849T	ACADS	NM_000017.4(ACADS):c.47-177C>T	noncoding	Benign
12	120736962	C	T	C120736962T	ACADS	NM_000017.4(ACADS):c.211-24C>T	noncoding	Benign
12	120737757	G	C	G120737757C	ACADS	NM_000017.4(ACADS):c.473-80G>C	noncoding	Benign
12	120737807	G	A	G120737807A	ACADS	NM_000017.4(ACADS):c.473-30G>A	noncoding	Benign
12	120738181	T	C	T120738181C	ACADS	NM_000017.4(ACADS):c.625-99T>C	coding	Benign
12	120738197	G	A	G120738197A	ACADS	NM_000017.4(ACADS):c.625-83G>A	noncoding	Benign/Likely_benign
12	120738519	G	C	G120738519C	ACADS	NM_000017.4(ACADS):c.796-14G>C	noncoding	Benign/Likely_benign
12	120738746	C	T	C120738746T	ACADS	NM_000017.4(ACADS):c.934-74C>T	noncoding	Benign
12	120738859	C	T	C120738859T	ACADS	NM_000017.4(ACADS):c.973C>T:p.Arg325Trp	coding	Pathogenic/Likely_pathogenic
12	120738967	C	T	C120738967T	ACADS	NM_000017.4(ACADS):c.1029+52C>T	noncoding	Benign
12	120739099	G	A	G120739099A	ACADS	NM_000017.4(ACADS):c.1030-41G>A	noncoding	Benign
12	120739168	C	T	C120739168T	ACADS	NM_000017.4(ACADS):c.1058C>T:p.Ser353Leu	coding	Pathogenic/Likely_pathogenic
12	120739279	C	A	C120739279A	ACADS	NM_000017.4(ACADS):c.1087-17C>A	noncoding	Benign
12	120978242	C	T	C120978242T	HNF1A	NM_000545.6(HNF1A):c.-527C>T	noncoding	Benign/Likely_benign
12	120978793	C	T	C120978793T	HNF1A	NM_000545.8(HNF1A):c.25C>T:p.Gln9Ter	coding	Pathogenic
12	120978820	G	T	G120978820T	HNF1A	NM_000545.8(HNF1A):c.52G>T:p.Glu18Ter	coding	Pathogenic/Likely_pathogenic
12	120978826	G	A	G120978826A	HNF1A	NM_000545.8(HNF1A):c.58G>A:p.Gly20Arg	coding	Pathogenic
12	120978828	G	T	G120978828T	HNF1A	NM_000545.8(HNF1A):c.60G>T:p.Gly20_Leu21=	coding	Benign
12	120978860	G	A	G120978860A	HNF1A	NM_000545.8(HNF1A):c.92G>A:p.Gly31Asp	coding	Benign
12	120978862	G	T	G120978862T	HNF1A	NM_000545.8(HNF1A):c.94G>T:p.Glu32Ter	coding	Pathogenic
12	120978889	G	T	G120978889T	HNF1A	NM_000545.8(HNF1A):c.121G>T:p.Glu41Ter	coding	Pathogenic
12	120978918	C	A	C120978918A	HNF1A	NM_000545.8(HNF1A):c.150C>A:p.Cys50Ter	coding	Pathogenic
12	120978918	C	T	C120978918T	HNF1A	NM_000545.8(HNF1A):c.150C>T:p.Cys50=	coding	Benign/Likely_benign
12	120978953	A	G	A120978953G	HNF1A	NM_000545.8(HNF1A):c.185A>G:p.Asn62Ser	coding	Benign
12	120978993	C	T	C120978993T	HNF1A	NM_000545.8(HNF1A):c.225C>T:p.Asp75=	coding	Benign
12	120979014	G	A	G120979014A	HNF1A	NM_000545.8(HNF1A):c.246G>A:p.Thr82=	coding	Benign/Likely_benign
12	120979074	C	T	C120979074T	HNF1A	NM_000545.8(HNF1A):c.306C>T:p.Ala102=	coding	Benign/Likely_benign
12	120979095	G	A	G120979095A	HNF1A	NM_000545.8(HNF1A):c.326+1G>A	coding	Pathogenic
12	120979095	G	C	G120979095C	HNF1A	NM_000545.8(HNF1A):c.326+1G>C	coding	Pathogenic
12	120979095	G	T	G120979095T	HNF1A	NM_000545.8(HNF1A):c.326+1G>T	coding	Pathogenic
12	120979335	T	C	T120979335C	HNF1A	NM_000545.8(HNF1A):c.326+241T>C	noncoding	Benign/Likely_benign
12	120988742	G	A	G120988742A	HNF1A	NM_000545.8(HNF1A):c.327-91G>A	noncoding	Benign
12	120988832	G	T	G120988832T	HNF1A	NM_000545.8(HNF1A):c.327-1G>T	noncoding	Pathogenic
12	120988844	G	A	G120988844A	HNF1A	NM_000545.8(HNF1A):c.338G>A:p.Trp113Ter	coding	Pathogenic
12	120988853	C	T	C120988853T	HNF1A	NM_000545.8(HNF1A):c.347C>T:p.Ala116Val	coding	Pathogenic
12	120988872	C	A	C120988872A	HNF1A	NM_000545.8(HNF1A):c.366C>A:p.Tyr122Ter	coding	Pathogenic
12	120988894	C	T	C120988894T	HNF1A	NM_000545.8(HNF1A):c.388C>T:p.Gln130Ter	coding	Pathogenic
12	120988931	C	T	C120988931T	HNF1A	NM_000545.8(HNF1A):c.425C>T:p.Ser142Phe	coding	Pathogenic
12	120988933	C	T	C120988933T	HNF1A	NM_000545.8(HNF1A):c.427C>T:p.His143Tyr	coding	Pathogenic
12	120988940	C	T	C120988940T	HNF1A	NM_000545.8(HNF1A):c.434C>T:p.Ser145Phe	coding	Pathogenic
12	120988978	A	T	A120988978T	HNF1A	NM_000545.8(HNF1A):c.472A>T:p.Lys158Ter	coding	Pathogenic
12	120989000	G	A	G120989000A	HNF1A	NM_000545.8(HNF1A):c.494G>A:p.Trp165Ter	coding	Pathogenic
12	120989033	G	A	G120989033A	HNF1A	NM_000545.8(HNF1A):c.526+1G>A	coding	Pathogenic/Likely_pathogenic
12	120989033	G	C	G120989033C	HNF1A	NM_000545.8(HNF1A):c.526+1G>C	coding	Pathogenic
12	120989033	G	T	G120989033T	HNF1A	NM_000545.8(HNF1A):c.526+1G>T	coding	Pathogenic
12	120989098	G	C	G120989098C	HNF1A	NM_000545.8(HNF1A):c.526+66G>C	noncoding	Benign
12	120993530	T	C	T120993530C	HNF1A	NM_000545.8(HNF1A):c.537T>C:p.His179=	coding	Benign/Likely_benign
12	120993591	C	T	C120993591T	HNF1A	NM_000545.5(HNF1A):c.598C>T:p.Arg200Trp	coding	Pathogenic
12	120993600	C	A	C120993600A	HNF1A	NM_000545.8(HNF1A):c.607C>A:p.Arg203Ser	coding	Pathogenic
12	120993600	C	T	C120993600T	HNF1A	NM_000545.8(HNF1A):c.607C>T:p.Arg203Cys	coding	Pathogenic
12	120993601	G	A	G120993601A	HNF1A	NM_000545.8(HNF1A):c.608G>A:p.Arg203His	coding	Pathogenic
12	120993613	G	A	G120993613A	HNF1A	NM_000545.8(HNF1A):c.620G>A:p.Gly207Asp	coding	Pathogenic
12	120993654	C	T	C120993654T	HNF1A	NM_000545.8(HNF1A):c.661C>T:p.Gln221Ter	coding	Pathogenic
12	120994186	G	T	G120994186T	HNF1A	NM_000545.8(HNF1A):c.736G>T:p.Val246Leu	coding	Pathogenic
12	120994198	C	T	C120994198T	HNF1A	NM_000545.8(HNF1A):c.748C>T:p.Gln250Ter	coding	Pathogenic
12	120994204	C	T	C120994204T	HNF1A	NM_000545.8(HNF1A):c.754C>T:p.Gln252Ter	coding	Pathogenic
12	120994269	A	T	A120994269T	HNF1A	NM_000545.8(HNF1A):c.819A>T:p.Lys273Asn	coding	Pathogenic
12	120994277	C	A	C120994277A	HNF1A	NM_000545.8(HNF1A):c.827C>A:p.Ala276Asp	coding	Pathogenic
12	120994350	C	T	C120994350T	HNF1A	NM_000545.8(HNF1A):c.900C>T:p.Pro300=	coding	Benign/Likely_benign
12	120996041	A	G	A120996041G	HNF1A	NM_000545.8(HNF1A):c.956-221A>G	noncoding	Benign
12	120996284	G	A	G120996284A	HNF1A	NM_000545.8(HNF1A):c.978G>A:p.Ala326=	coding	Benign/Likely_benign
12	120996499	G	T	G120996499T	HNF1A	NM_000545.8(HNF1A):c.1108-42G>T	noncoding	Benign
12	120996598	T	G	T120996598G	HNF1A	NM_000545.8(HNF1A):c.1165T>G:p.Leu389Val	coding	Benign/Likely_benign
12	120996794	C	T	C120996794T	HNF1A	NM_000545.8(HNF1A):c.1309+52C>T	noncoding	Benign/Likely_benign
12	120996980	G	A	G120996980A	HNF1A	NM_000545.8(HNF1A):c.1309+238G>A	noncoding	Benign
12	120996989	G	A	G120996989A	HNF1A	NM_000545.8(HNF1A):c.1309+247G>A	noncoding	Benign
12	120997378	G	A	G120997378A	HNF1A	NM_000545.8(HNF1A):c.1310-96G>A	noncoding	Benign
12	120997550	C	T	C120997550T	HNF1A	NM_000545.8(HNF1A):c.1386C>T:p.Val462=	coding	Benign/Likely_benign
12	120997658	C	T	C120997658T	HNF1A	NM_000545.8(HNF1A):c.1494C>T:p.Ser498_Pro499=	coding	Benign
12	120997733	A	G	A120997733G	HNF1A	NM_000545.8(HNF1A):c.1501+68A>G	noncoding	Benign/Likely_benign
12	120999261	C	T	C120999261T	HNF1A	NM_000545.8(HNF1A):c.1502-7C>T	noncoding	Benign
12	120999297	C	G	C120999297G	HNF1A	NM_000545.8(HNF1A):c.1531C>G:p.Gln511Glu	coding	Pathogenic
12	120999305	C	T	C120999305T	HNF1A	NM_000545.8(HNF1A):c.1539C>T:p.Thr513=	coding	Benign/Likely_benign
12	120999322	C	T	C120999322T	HNF1A	NM_000545.8(HNF1A):c.1556C>T:p.Pro519Leu	coding	Pathogenic
12	120999390	G	A	G120999390A	HNF1A	NM_000545.8(HNF1A):c.1623+1G>A	coding	Pathogenic
12	120999390	G	T	G120999390T	HNF1A	NM_000545.8(HNF1A):c.1623+1G>T	coding	Pathogenic
12	120999418	T	C	T120999418C	HNF1A	NM_000545.8(HNF1A):c.1623+29T>C	noncoding	Benign
12	120999585	C	T	C120999585T	HNF1A	NM_000545.8(HNF1A):c.1726C>T:p.Gln576Ter	coding	Pathogenic
12	120999671	C	T	C120999671T	HNF1A	NM_000545.8(HNF1A):c.1768+44C>T	noncoding	Benign
12	121001076	A	G	A121001076G	HNF1A	NM_000545.8(HNF1A):c.1780A>G:p.Ser594Gly	coding	Benign
12	121001077	G	T	G121001077T	HNF1A	NM_000545.8(HNF1A):c.1781G>T:p.Ser594Ile	coding	Pathogenic
12	121001112	G	A	G121001112A	HNF1A	NM_000545.8(HNF1A):c.1816G>A:p.Gly606Ser	coding	Benign
12	121001145	G	A	G121001145A	HNF1A	NM_000545.8(HNF1A):c.1849G>A:p.Val617Ile	coding	Benign
12	121001231	G	T	G121001231T	HNF1A	NM_022895.3(C12orf43):c.*2922C>A	noncoding	Benign
12	121001385	C	T	C121001385T	HNF1A	NM_022895.3(C12orf43):c.*2768G>A	noncoding	Benign
12	121001459	T	G	T121001459G	HNF1A	NM_022895.3(C12orf43):c.*2694A>C	noncoding	Benign
12	121001781	C	T	C121001781T	HNF1A	NM_022895.3(C12orf43):c.*2372G>A	noncoding	Benign/Likely_benign
12	121002057	G	A	G121002057A	HNF1A	NM_022895.3(C12orf43):c.*2096C>T	noncoding	Benign/Likely_benign
12	121002100	G	A	G121002100A	HNF1A	NM_022895.3(C12orf43):c.*2053C>T	noncoding	Benign/Likely_benign
12	121002263	G	A	G121002263A	HNF1A	NM_022895.3(C12orf43):c.*1890C>T	noncoding	Benign
12	121626333	G	A	G121626333A	ORAI1	Single_allele	noncoding	Benign
12	121641056	G	A	G121641056A	ORAI1	NM_032790.3(ORAI1):c.319G>A:p.Val107Met	coding	Pathogenic
12	121641693	T	A	T121641693A	ORAI1	NM_032790.3(ORAI1):c.*50T>A	noncoding	Benign
12	121641729	C	T	C121641729T	ORAI1	NM_032790.3(ORAI1):c.*86C>T	noncoding	Benign
12	121641762	A	G	A121641762G	ORAI1	NM_032790.3(ORAI1):c.*119A>G	noncoding	Benign
12	121805112	C	T	C121805112T	SETD1B	NM_001353345.2(SETD1B):c.175-6C>T	noncoding	Benign
12	121805999	C	T	C121805999T	SETD1B	NM_001353345.2(SETD1B):c.438C>T:p.Ile146=	coding	Benign
12	121810003	C	T	C121810003T	SETD1B	NM_001353345.2(SETD1B):c.1058C>T:p.Pro353Leu	coding	Benign
12	121810524	C	T	C121810524T	SETD1B	NM_001353345.2(SETD1B):c.1579C>T:p.Gln527Ter	coding	Pathogenic
12	121810676	C	G	C121810676G	SETD1B	NM_001353345.2(SETD1B):c.1731C>G:p.Leu577=	coding	Benign
12	121819886	C	T	C121819886T	SETD1B	NM_001353345.2(SETD1B):c.3901C>T:p.Arg1301Ter	coding	Pathogenic
12	121822564	C	T	C121822564T	SETD1B	NM_001353345.2(SETD1B):c.3985C>T:p.Arg1329Ter	coding	Pathogenic
12	121822634	C	T	C121822634T	SETD1B	NM_001353345.2(SETD1B):c.4055C>T:p.Pro1352Leu	coding	Benign
12	121822729	G	C	G121822729C	SETD1B	NM_001353345.2(SETD1B):c.4150G>C:p.Gly1384Arg	coding	Benign
12	121823191	C	T	C121823191T	SETD1B	NM_001353345.2(SETD1B):c.4612C>T:p.Arg1538Ter	coding	Pathogenic
12	121823550	G	A	G121823550A	SETD1B	NM_001353345.2(SETD1B):c.4971G>A:p.Ala1657=	coding	Benign
12	121827962	T	G	T121827962G	SETD1B	NM_001353345.2(SETD1B):c.5619T>G:p.Tyr1873Ter	coding	Pathogenic
12	121830180	G	A	G121830180A	SETD1B	NM_001353345.2(SETD1B):c.5842G>A:p.Glu1948Lys	coding	Pathogenic
12	121843669	A	G	A121843669G	HPD	NM_002150.3(HPD):c.954+41T>C	noncoding	Benign
12	121849384	T	A	T121849384A	HPD	NM_002150.3(HPD):c.518+303A>T	noncoding	Benign
12	121849794	C	T	C121849794T	HPD	NM_002150.3(HPD):c.415-4G>A	noncoding	Benign
12	121849979	G	A	G121849979A	HPD	NM_002150.3(HPD):c.415-189C>T	noncoding	Benign
12	121854640	G	A	G121854640A	HPD	NM_002150.3(HPD):c.414+63C>T	noncoding	Benign
12	121855056	T	G	T121855056G	HPD	NM_002150.3(HPD):c.325-264A>C	noncoding	Benign
12	121856099	G	A	G121856099A	HPD	NM_002150.3(HPD):c.324+225C>T	noncoding	Benign
12	121856304	C	T	C121856304T	HPD	NM_002150.3(HPD):c.324+20G>A	noncoding	Benign
12	121856357	C	T	C121856357T	HPD	NM_002150.3(HPD):c.291G>A:p.Ala97=	coding	Benign
12	121856522	C	A	C121856522A	HPD	NM_002150.3(HPD):c.241+61G>T	noncoding	Benign
12	121856989	C	G	C121856989G	HPD	NM_002150.3(HPD):c.198+339G>C	noncoding	Benign
12	121857433	C	T	C121857433T	HPD	NM_002150.3(HPD):c.94-1G>A	coding	Benign
12	121859126	T	C	T121859126C	HPD	NM_001171993.2(HPD):c.-316A>G	noncoding	Benign
12	121921266	T	C	T121921266C	CFAP251	NM_144668.6(CFAP251):c.-20-20T>C	noncoding	Benign
12	121959084	T	C	T121959084C	CFAP251	NM_144668.6(CFAP251):c.2123T>C:p.Met708Thr	coding	Benign
12	122208273	T	C	T122208273C	DIABLO	NM_001371333.1(DIABLO):c.*108A>G	noncoding	Benign
12	122208327	A	G	A122208327G	DIABLO	NM_001371333.1(DIABLO):c.*54T>C	noncoding	Benign
12	122208832	A	G	A122208832G	DIABLO	NM_001371333.1(DIABLO):c.524-255T>C	noncoding	Benign
12	122216338	T	C	T122216338C	DIABLO	NM_001371333.1(DIABLO):c.523+150A>G	noncoding	Benign
12	122216454	T	A	T122216454A	DIABLO	NM_001371333.1(DIABLO):c.523+34A>T	noncoding	Benign
12	122216656	G	T	G122216656T	DIABLO	NM_001371333.1(DIABLO):c.427-72C>A	noncoding	Benign
12	122217127	T	A	T122217127A	DIABLO	NM_001371333.1(DIABLO):c.316-258A>T	noncoding	Benign
12	122218467	C	T	C122218467T	DIABLO	NM_001371333.1(DIABLO):c.184-70G>A	noncoding	Benign
12	122224449	C	T	C122224449T	DIABLO	NM_001371333.1(DIABLO):c.183+63G>A	noncoding	Benign
12	122225622	G	A	G122225622A	DIABLO	NM_001371333.1(DIABLO):c.50+343C>T	coding	Benign
12	122226035	G	A	G122226035A	DIABLO	NM_001371333.1(DIABLO):c.-21C>T	noncoding	Benign
12	122235510	C	A	C122235510A	VPS33A	NM_022916.6(VPS33A):c.1440+276G>T	noncoding	Benign
12	122235548	G	A	G122235548A	VPS33A	NM_022916.6(VPS33A):c.1440+238C>T	noncoding	Benign
12	122235745	C	A	C122235745A	VPS33A	NM_022916.6(VPS33A):c.1440+41G>T	noncoding	Benign
12	122235763	C	T	C122235763T	VPS33A	NM_022916.6(VPS33A):c.1440+23G>A	noncoding	Benign
12	122235876	G	A	G122235876A	VPS33A	NM_022916.6(VPS33A):c.1350C>T:p.Ala450=	coding	Benign
12	122238974	A	C	A122238974C	VPS33A	NM_022916.6(VPS33A):c.1165-250T>G	noncoding	Benign
12	122239748	T	A	T122239748A	VPS33A	NM_022916.6(VPS33A):c.1164+130A>T	noncoding	Benign
12	122242431	G	A	G122242431A	VPS33A	NM_022916.6(VPS33A):c.1047C>T:p.Gly349=	coding	Benign
12	122242548	T	C	T122242548C	VPS33A	NM_022916.6(VPS33A):c.970-40A>G	noncoding	Benign
12	122244789	A	C	A122244789C	VPS33A	NM_022916.6(VPS33A):c.776-27T>G	noncoding	Benign
12	122244828	A	T	A122244828T	VPS33A	NM_022916.6(VPS33A):c.776-66T>A	noncoding	Benign
12	122245053	G	A	G122245053A	VPS33A	NM_022916.6(VPS33A):c.776-291C>T	noncoding	Benign
12	122249880	T	G	T122249880G	VPS33A	NM_022916.6(VPS33A):c.766A>C:p.Ile256Leu	coding	Benign
12	122250207	C	T	C122250207T	VPS33A	NM_022916.6(VPS33A):c.601-162G>A	noncoding	Benign
12	122250331	G	A	G122250331A	VPS33A	NM_022916.6(VPS33A):c.601-286C>T	noncoding	Benign
12	122261041	G	C	G122261041C	VPS33A	NM_022916.6(VPS33A):c.483+220C>G	noncoding	Benign
12	122261398	G	A	G122261398A	VPS33A	NM_022916.6(VPS33A):c.346C>T:p.Arg116Cys	coding	Benign
12	122261467	T	C	T122261467C	VPS33A	NM_022916.6(VPS33A):c.297-20A>G	noncoding	Benign
12	122263552	A	G	A122263552G	VPS33A	NM_022916.6(VPS33A):c.296+20T>C	noncoding	Benign
12	122264215	A	G	A122264215G	VPS33A	NM_022916.6(VPS33A):c.103-16T>C	noncoding	Benign
12	122266031	T	C	T122266031C	VPS33A	NM_022916.6(VPS33A):c.102+276A>G	noncoding	Benign
12	122266139	C	G	C122266139G	VPS33A	NM_022916.6(VPS33A):c.102+168G>C	noncoding	Benign
12	122266183	T	C	T122266183C	VPS33A	NM_022916.6(VPS33A):c.102+124A>G	noncoding	Benign
12	122266474	G	A	G122266474A	VPS33A	NM_022916.6(VPS33A):c.-66C>T	noncoding	Benign
12	122474142	C	T	C122474142T	ZCCHC8	NM_017612.5(ZCCHC8):c.1479G>A:p.Pro493=	coding	Benign
12	122474175	G	A	G122474175A	ZCCHC8	NM_017612.5(ZCCHC8):c.1446C>T:p.Pro482=	coding	Benign
12	122478212	G	A	G122478212A	ZCCHC8	NM_017612.5(ZCCHC8):c.1221C>T:p.Phe407=	coding	Benign
12	122480161	T	C	T122480161C	ZCCHC8	NM_017612.5(ZCCHC8):c.1140+29A>G	noncoding	Benign
12	122498873	A	G	A122498873G	ZCCHC8	NM_017612.5(ZCCHC8):c.200-4T>C	noncoding	Benign
12	122498913	A	G	A122498913G	ZCCHC8	NM_017612.5(ZCCHC8):c.200-44T>C	noncoding	Benign
12	122500624	A	G	A122500624G	ZCCHC8	NM_017612.5(ZCCHC8):c.199+18T>C	noncoding	Benign
12	122785764	C	T	C122785764T	CCDC62	NM_201435.5(CCDC62):c.442C>T:p.Gln148Ter	coding	Pathogenic
12	123254131	A	G	A123254131G	MTRFR	NM_152269.5(MTRFR):c.282+175A>G	noncoding	Benign
12	123256939	A	T	A123256939T	MTRFR	NM_152269.5(MTRFR):c.409A>T:p.Lys137Ter	coding	Pathogenic
12	123627097	C	T	C123627097T	EIF2B1	NM_001414.4(EIF2B1):c.429G>A:p.Ala143=	coding	Benign/Likely_benign
12	123630473	A	G	A123630473G	EIF2B1	NM_001414.4(EIF2B1):c.176T>C:p.Val59Ala	coding	Benign/Likely_benign
12	123672291	G	A	G123672291A	TCTN2	NM_024809.5(TCTN2):c.267+159G>A	noncoding	Benign
12	123672367	G	A	G123672367A	TCTN2	NM_024809.5(TCTN2):c.267+235G>A	noncoding	Benign
12	123673529	G	A	G123673529A	TCTN2	NM_024809.5(TCTN2):c.268-86G>A	noncoding	Benign
12	123686818	T	G	T123686818G	TCTN2	NM_024809.5(TCTN2):c.565-18T>G	noncoding	Benign
12	123687093	A	G	A123687093G	TCTN2	NM_024809.5(TCTN2):c.764+58A>G	noncoding	Benign
12	123690410	G	A	G123690410A	TCTN2	NM_024809.5(TCTN2):c.892-123G>A	noncoding	Benign
12	123690669	T	G	T123690669G	TCTN2	NM_024809.5(TCTN2):c.1028T>G:p.Leu343Ter	coding	Pathogenic
12	123694825	T	C	T123694825C	TCTN2	NM_024809.5(TCTN2):c.1100-17T>C	noncoding	Benign
12	123695381	T	A	T123695381A	TCTN2	NM_024809.5(TCTN2):c.1312+84T>A	noncoding	Benign
12	123697201	G	C	G123697201C	TCTN2	NM_024809.5(TCTN2):c.1505+3G>C	noncoding	Benign/Likely_benign
12	123707592	A	G	A123707592G	TCTN2	NM_024809.5(TCTN2):c.1985-12A>G	noncoding	Benign/Likely_benign
12	123712733	A	C	A123712733C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.117+51A>C	noncoding	Benign
12	123718936	G	A	G123718936A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.196+235G>A	noncoding	Benign
12	123722551	T	C	T123722551C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.294+103T>C	noncoding	Benign
12	123722662	C	T	C123722662T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.294+214C>T	noncoding	Benign
12	123722665	T	C	T123722665C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.294+217T>C	noncoding	Benign
12	123726002	C	T	C123726002T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.433-195C>T	noncoding	Benign
12	123726080	T	C	T123726080C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.433-117T>C	noncoding	Benign
12	123727499	G	C	G123727499C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.522-284G>C	noncoding	Benign
12	123727624	T	C	T123727624C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.522-159T>C	noncoding	Benign
12	123727734	A	G	A123727734G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.522-49A>G	noncoding	Benign
12	123733812	T	G	T123733812G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.649-114T>G	noncoding	Benign
12	123734250	A	G	A123734250G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.731+242A>G	noncoding	Benign
12	123735363	T	C	T123735363C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.732-168T>C	noncoding	Benign
12	123735807	A	C	A123735807C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.825+183A>C	noncoding	Benign
12	123737220	G	A	G123737220A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.987G>A:p.Trp329Ter	coding	Pathogenic
12	123743773	T	C	T123743773C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1039-12T>C	noncoding	Benign/Likely_benign
12	123744078	C	T	C123744078T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1190-123C>T	noncoding	Benign
12	123744269	G	T	G123744269T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1258G>T:p.Val420Leu	coding	Benign/Likely_benign
12	123744581	G	A	G123744581A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1327-16G>A	noncoding	Benign/Likely_benign
12	123747306	G	A	G123747306A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1606-301G>A	noncoding	Benign
12	123751343	A	G	A123751343G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2055+114A>G	noncoding	Benign
12	123754447	C	T	C123754447T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2203C>T:p.Gln735Ter	coding	Pathogenic
12	123754538	G	A	G123754538A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2293+1G>A	coding	Pathogenic
12	123756861	C	T	C123756861T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2340C>T:p.Arg780=	coding	Benign/Likely_benign
12	123853186	T	C	T123853186C	DNAH10	NM_001372106.1(DNAH10):c.6292-20T>C	noncoding	Benign
12	124325482	C	T	C124325482T	NCOR2	NM_006312.6(NCOR2):c.7465G>A:p.Ala2489Thr	coding	Benign
12	124335467	A	G	A124335467G	NCOR2	NM_006312.6(NCOR2):c.6265+16T>C	noncoding	Benign
12	124337150	C	T	C124337150T	NCOR2	NM_006312.6(NCOR2):c.5718G>A:p.Pro1906=	coding	Benign
12	124341916	C	T	C124341916T	NCOR2	NM_006312.6(NCOR2):c.5095G>A:p.Ala1699Thr	coding	Benign
12	124347928	G	A	G124347928A	NCOR2	NM_006312.6(NCOR2):c.3986-17C>T	noncoding	Benign
12	124473081	C	T	C124473081T	NCOR2	NM_006312.6(NCOR2):c.462G>A:p.Pro154=	coding	Benign
12	124495287	C	G	C124495287G	NCOR2	NM_006312.6(NCOR2):c.-36G>C	noncoding	Benign
12	124778493	C	T	C124778493T	SCARB1	NM_005505.5(SCARB1):c.*94G>A	coding	Benign
12	124778515	C	T	C124778515T	SCARB1	NM_005505.5(SCARB1):c.*72G>A	coding	Benign
12	124778698	G	A	G124778698A	SCARB1	NM_005505.5(SCARB1):c.*1-112C>T	noncoding	Benign
12	124786227	A	G	A124786227G	SCARB1	NM_005505.5(SCARB1):c.1401+130T>C	noncoding	Benign
12	124786544	G	C	G124786544C	SCARB1	NM_005505.5(SCARB1):c.1255-41C>G	noncoding	Benign
12	124786555	A	C	A124786555C	SCARB1	NM_005505.5(SCARB1):c.1255-52T>G	noncoding	Benign
12	124786572	C	T	C124786572T	SCARB1	NM_005505.5(SCARB1):c.1255-69G>A	noncoding	Benign
12	124787132	C	T	C124787132T	SCARB1	NM_005505.5(SCARB1):c.1254+274G>A	noncoding	Benign
12	124795275	C	T	C124795275T	SCARB1	NM_005505.5(SCARB1):c.1129-7G>A	noncoding	Benign
12	124800051	G	T	G124800051T	SCARB1	NM_005505.5(SCARB1):c.1128+73C>A	noncoding	Benign
12	124800202	A	G	A124800202G	SCARB1	NM_005505.5(SCARB1):c.1050T>C:p.Ala350=	coding	Benign
12	124807867	G	A	G124807867A	SCARB1	NM_005505.5(SCARB1):c.903C>T:p.Phe301=	coding	Benign
12	124808129	T	C	T124808129C	SCARB1	NM_005505.5(SCARB1):c.843-202A>G	noncoding	Benign
12	124810185	C	T	C124810185T	SCARB1	NM_005505.5(SCARB1):c.831G>A:p.Pro277=	coding	Benign
12	124810291	T	G	T124810291G	SCARB1	NM_005505.5(SCARB1):c.727-2A>C	noncoding	Pathogenic
12	124810482	C	T	C124810482T	SCARB1	NM_005505.5(SCARB1):c.727-193G>A	noncoding	Benign
12	124811615	C	T	C124811615T	SCARB1	NM_005505.5(SCARB1):c.726+255G>A	noncoding	Benign
12	124811815	C	T	C124811815T	SCARB1	NM_005505.5(SCARB1):c.726+55G>A	noncoding	Benign
12	124811816	G	A	G124811816A	SCARB1	NM_005505.5(SCARB1):c.726+54C>T	noncoding	Benign
12	124811979	A	C	A124811979C	SCARB1	NM_005505.5(SCARB1):c.631-14T>G	noncoding	Benign
12	124812018	G	A	G124812018A	SCARB1	NM_005505.5(SCARB1):c.631-53C>T	noncoding	Benign
12	124812168	G	A	G124812168A	SCARB1	NM_005505.5(SCARB1):c.631-203C>T	noncoding	Benign
12	124812204	G	A	G124812204A	SCARB1	NM_005505.5(SCARB1):c.631-239C>T	noncoding	Benign
12	124814187	C	T	C124814187T	SCARB1	NM_005505.5(SCARB1):c.630+15G>A	noncoding	Benign/Likely_benign
12	124814331	G	A	G124814331A	SCARB1	NM_005505.5(SCARB1):c.501C>T:p.Gly167=	coding	Benign
12	124814823	A	G	A124814823G	SCARB1	NM_005505.5(SCARB1):c.426+150T>C	noncoding	Benign
12	124814996	C	T	C124814996T	SCARB1	NM_005505.5(SCARB1):c.403G>A:p.Val135Ile	coding	Benign
12	124815013	G	A	G124815013A	SCARB1	NM_005505.5(SCARB1):c.386C>T:p.Ser129Leu	coding	Benign/Likely_benign
12	124815284	C	T	C124815284T	SCARB1	NM_005505.5(SCARB1):c.285-170G>A	noncoding	Benign
12	124817654	A	G	A124817654G	SCARB1	NM_005505.5(SCARB1):c.180T>C:p.Pro60=	coding	Benign
12	124817705	G	A	G124817705A	SCARB1	NM_005505.5(SCARB1):c.129C>T:p.Asn43=	coding	Benign
12	124863700	C	G	C124863700G	SCARB1	NM_005505.5(SCARB1):c.21G>C:p.Ala7=	coding	Benign
12	124863709	G	A	G124863709A	SCARB1	NM_005505.5(SCARB1):c.12C>T:p.Ser4=	coding	Benign
12	124863717	C	T	C124863717T	SCARB1	NM_005505.5(SCARB1):c.4G>A:p.Gly2Ser	coding	Benign
12	124912818	A	G	A124912818G	UBC	NM_021009.7(UBC):c.954T>C:p.Thr318=	coding	Benign
12	124913493	G	C	G124913493C	UBC	NM_021009.7(UBC):c.279C>G:p.Val93=	coding	Benign
12	124950034	C	T	C124950034T	DHX37	NM_032656.4(DHX37):c.3242G>A:p.Arg1081Gln	coding	Benign
12	124950170	G	A	G124950170A	DHX37	NM_032656.4(DHX37):c.3195C>T:p.Ala1065=	coding	Benign
12	124950489	G	C	G124950489C	DHX37	NM_032656.4(DHX37):c.3045C>G:p.Asp1015Glu	coding	Benign
12	124950842	C	T	C124950842T	DHX37	NM_032656.4(DHX37):c.2869-38G>A	noncoding	Benign
12	124952473	T	C	T124952473C	DHX37	NM_032656.4(DHX37):c.2793A>G:p.Ala931=	coding	Benign
12	124952596	C	T	C124952596T	DHX37	NM_032656.4(DHX37):c.2696-26G>A	noncoding	Benign
12	124953868	A	G	A124953868G	DHX37	NM_032656.4(DHX37):c.2695+12T>C	noncoding	Benign
12	124953970	T	C	T124953970C	DHX37	NM_032656.4(DHX37):c.2605A>G:p.Ser869Gly	coding	Benign
12	124953977	C	T	C124953977T	DHX37	NM_032656.4(DHX37):c.2598G>A:p.Glu866=	coding	Benign
12	124954003	A	G	A124954003G	DHX37	NM_032656.4(DHX37):c.2579-7T>C	noncoding	Benign
12	124954070	A	C	A124954070C	DHX37	NM_032656.4(DHX37):c.2578+17T>G	noncoding	Benign
12	124954166	C	A	C124954166A	DHX37	NM_032656.4(DHX37):c.2499G>T:p.Arg833=	coding	Benign
12	124956801	T	C	T124956801C	DHX37	NM_032656.4(DHX37):c.2343A>G:p.Ala781=	coding	Benign
12	124956813	T	C	T124956813C	DHX37	NM_032656.4(DHX37):c.2331A>G:p.Thr777=	coding	Benign
12	124960429	T	C	T124960429C	DHX37	NM_032656.4(DHX37):c.2046-6A>G	noncoding	Benign
12	124964414	C	T	C124964414T	DHX37	NM_032656.4(DHX37):c.2025G>A:p.Thr675=	coding	Benign
12	124968686	A	G	A124968686G	DHX37	NM_032656.4(DHX37):c.1294-38T>C	noncoding	Benign
12	124980477	C	T	C124980477T	DHX37	NM_032656.4(DHX37):c.738+13G>A	noncoding	Benign
12	124982612	C	T	C124982612T	DHX37	NM_032656.4(DHX37):c.288G>A:p.Met96Ile	coding	Benign
12	131929174	C	T	C131929174T	PUS1	Single_allele	noncoding	Benign
12	131929732	C	T	C131929732T	PUS1	NM_025215.6(PUS1):c.10C>T:p.Gln4Ter	coding	Pathogenic
12	131929767	G	A	G131929767A	PUS1	NM_025215.6(PUS1):c.45G>A:p.Trp15Ter	coding	Pathogenic
12	131929830	C	G	C131929830G	PUS1	NM_025215.6(PUS1):c.74+34C>G	noncoding	Benign
12	131930441	A	G	A131930441G	PUS1	NM_025215.6(PUS1):c.303+306A>G	noncoding	Benign
12	131939213	G	A	G131939213A	PUS1	NM_025215.6(PUS1):c.482G>A:p.Trp161Ter	coding	Pathogenic
12	131942086	C	A	C131942086A	PUS1	NM_025215.6(PUS1):c.1236+103C>A	noncoding	Benign
12	132023844	A	G	A132023844G	EP400	NM_015409.5(EP400):c.4758A>G:p.Pro1586=	coding	Benign
12	132025735	G	A	G132025735A	EP400	NM_015409.5(EP400):c.4945G>A:p.Ala1649Thr	coding	Benign/Likely_benign
12	132062548	A	G	A132062548G	EP400	NM_015409.5(EP400):c.8181A>G:p.Gln2727=	coding	Benign/Likely_benign
12	132618549	C	A	C132618549A	P2RX2	Single_allele	noncoding	Benign
12	132618725	A	C	A132618725C	P2RX2	Single_allele	noncoding	Benign
12	132619476	G	A	G132619476A	P2RX2	NM_170682.4(P2RX2):c.211G>A:p.Glu71Lys	coding	Benign/Likely_benign
12	132619830	C	T	C132619830T	P2RX2	NM_170682.4(P2RX2):c.382-14C>T	noncoding	Benign/Likely_benign
12	132620116	T	C	T132620116C	P2RX2	NM_170682.4(P2RX2):c.554+20T>C	noncoding	Benign/Likely_benign
12	132620147	C	T	C132620147T	P2RX2	NM_170682.4(P2RX2):c.554+51C>T	noncoding	Benign
12	132620187	T	G	T132620187G	P2RX2	NM_170682.4(P2RX2):c.555-80T>G	noncoding	Benign
12	132621248	A	T	A132621248T	P2RX2	NM_170682.4(P2RX2):c.906-7A>T	noncoding	Benign/Likely_benign
12	132621435	C	T	C132621435T	P2RX2	NM_170682.4(P2RX2):c.997-40C>T	noncoding	Benign
12	132621630	G	C	G132621630C	P2RX2	NM_170682.4(P2RX2):c.1074G>C:p.Leu358=	coding	Benign
12	132621707	C	T	C132621707T	P2RX2	NM_170682.4(P2RX2):c.1151C>T:p.Pro384Leu	coding	Benign
12	132622003	C	T	C132622003T	P2RX2	NM_170682.4(P2RX2):c.*31C>T	noncoding	Benign
12	132624607	T	C	T132624607C	POLE	NM_006231.4(POLE):c.*90A>G	noncoding	Benign
12	132624793	G	A	G132624793A	POLE	NM_006231.4(POLE):c.6765C>T:p.Ile2255=	coding	Benign/Likely_benign
12	132624821	A	T	A132624821T	POLE	NM_006231.4(POLE):c.6748-11T>A	noncoding	Benign/Likely_benign
12	132624904	C	T	C132624904T	POLE	NM_006231.4(POLE):c.6747+1G>A	noncoding	Pathogenic
12	132625013	G	C	G132625013C	POLE	NM_006231.4(POLE):c.6658-19C>G	noncoding	Benign/Likely_benign
12	132625361	T	C	T132625361C	POLE	NM_006231.4(POLE):c.6657+284A>G	noncoding	Benign
12	132625418	C	T	C132625418T	POLE	NM_006231.4(POLE):c.6657+227G>A	noncoding	Benign
12	132625581	G	A	G132625581A	POLE	NM_006231.4(POLE):c.6657+64C>T	noncoding	Benign
12	132625842	G	A	G132625842A	POLE	NM_006231.4(POLE):c.6532-72C>T	noncoding	Benign
12	132626195	G	A	G132626195A	POLE	NM_006231.4(POLE):c.6453C>T:p.Tyr2151=	coding	Benign/Likely_benign
12	132632025	A	G	A132632025G	POLE	NM_006231.4(POLE):c.6330+290T>C	noncoding	Benign
12	132632153	A	G	A132632153G	POLE	NM_006231.4(POLE):c.6330+162T>C	noncoding	Benign
12	132632689	G	A	G132632689A	POLE	NM_006231.4(POLE):c.6111C>T:p.Ala2037=	coding	Benign/Likely_benign
12	132633067	C	T	C132633067T	POLE	NM_006231.4(POLE):c.6005-272G>A	noncoding	Benign
12	132633074	G	A	G132633074A	POLE	NM_006231.4(POLE):c.6005-279C>T	noncoding	Benign
12	132634175	T	C	T132634175C	POLE	NM_006231.4(POLE):c.6004+11A>G	noncoding	Benign/Likely_benign
12	132635579	A	G	A132635579G	POLE	NM_006231.4(POLE):c.5811+313T>C	noncoding	Benign
12	132635796	G	A	G132635796A	POLE	NM_006231.4(POLE):c.5811+96C>T	noncoding	Benign
12	132637855	C	T	C132637855T	POLE	NM_006231.4(POLE):c.5678+159G>A	noncoding	Benign
12	132637931	G	A	G132637931A	POLE	NM_006231.4(POLE):c.5678+83C>T	noncoding	Benign
12	132639591	A	G	A132639591G	POLE	NM_006231.4(POLE):c.5379-293T>C	noncoding	Benign
12	132641646	C	T	C132641646T	POLE	NM_006231.4(POLE):c.5378+1G>A	noncoding	Pathogenic
12	132641868	C	T	C132641868T	POLE	NM_006231.4(POLE):c.5174-17G>A	noncoding	Benign/Likely_benign
12	132642138	C	T	C132642138T	POLE	NM_006231.4(POLE):c.5173+39G>A	noncoding	Benign
12	132642349	G	A	G132642349A	POLE	NM_006231.4(POLE):c.5001C>T:p.Phe1667=	coding	Benign/Likely_benign
12	132642703	G	A	G132642703A	POLE	NM_006231.4(POLE):c.4755C>T:p.Ile1585=	coding	Benign/Likely_benign
12	132643476	C	A	C132643476A	POLE	NM_006231.4(POLE):c.4375G>T:p.Glu1459Ter	coding	Pathogenic
12	132643644	T	G	T132643644G	POLE	NM_006231.4(POLE):c.4291-84A>C	noncoding	Benign
12	132643983	G	A	G132643983A	POLE	NM_006231.4(POLE):c.4150-6C>T	noncoding	Benign/Likely_benign
12	132643989	A	G	A132643989G	POLE	NM_006231.4(POLE):c.4150-12T>C	noncoding	Benign/Likely_benign
12	132648860	G	T	G132648860T	POLE	NM_006231.4(POLE):c.4149+69C>A	noncoding	Benign
12	132649127	C	T	C132649127T	POLE	NM_006231.4(POLE):c.4006-55G>A	noncoding	Benign
12	132649610	G	A	G132649610A	POLE	NM_006231.4(POLE):c.3795+67C>T	noncoding	Benign
12	132649878	G	A	G132649878A	POLE	NM_006231.4(POLE):c.3594C>T:p.Ala1198=	coding	Benign/Likely_benign
12	132656873	C	T	C132656873T	POLE	NM_006231.4(POLE):c.3582+263G>A	noncoding	Benign
12	132657129	C	T	C132657129T	POLE	NM_006231.4(POLE):c.3582+7G>A	noncoding	Benign/Likely_benign
12	132657229	G	A	G132657229A	POLE	NM_006231.4(POLE):c.3489C>T:p.His1163=	coding	Benign/Likely_benign
12	132657853	G	A	G132657853A	POLE	NM_006231.4(POLE):c.3378+15C>T	noncoding	Benign/Likely_benign
12	132661490	T	C	T132661490C	POLE	NM_006231.4(POLE):c.2864+37A>G	noncoding	Benign
12	132661936	C	T	C132661936T	POLE	NM_006231.4(POLE):c.2707-252G>A	noncoding	Benign
12	132664558	C	A	C132664558A	POLE	NM_006231.4(POLE):c.2469-96G>T	noncoding	Benign
12	132665554	A	G	A132665554G	POLE	NM_006231.4(POLE):c.2320-104T>C	noncoding	Benign
12	132665731	G	C	G132665731C	POLE	NM_006231.4(POLE):c.2320-281C>G	noncoding	Benign
12	132667202	T	A	T132667202A	POLE	NM_006231.4(POLE):c.2319+301A>T	noncoding	Benign
12	132667231	C	T	C132667231T	POLE	NM_006231.4(POLE):c.2319+272G>A	noncoding	Benign
12	132667951	C	T	C132667951T	POLE	NM_006231.4(POLE):c.2174-303G>A	noncoding	Benign
12	132668829	G	A	G132668829A	POLE	NM_006231.4(POLE):c.1905C>T:p.Ile635=	coding	Benign/Likely_benign
12	132672210	G	A	G132672210A	POLE	NM_006231.4(POLE):c.1794+5C>T	noncoding	Benign/Likely_benign
12	132672338	G	C	G132672338C	POLE	NM_006231.4(POLE):c.1687-16C>G	noncoding	Benign/Likely_benign
12	132672431	G	A	G132672431A	POLE	NM_006231.4(POLE):c.1687-109C>T	noncoding	Benign
12	132672553	T	A	T132672553A	POLE	NM_006231.4(POLE):c.1686+74A>T	noncoding	Benign
12	132673431	C	A	C132673431A	POLE	NM_006231.4(POLE):c.1359+144G>T	noncoding	Benign
12	132673532	C	T	C132673532T	POLE	NM_006231.4(POLE):c.1359+43G>A	noncoding	Benign
12	132673556	C	T	C132673556T	POLE	NM_006231.4(POLE):c.1359+19G>A	noncoding	Benign/Likely_benign
12	132673587	C	T	C132673587T	POLE	NM_006231.4(POLE):c.1347G>A:p.Thr449=	coding	Benign/Likely_benign
12	132673964	C	T	C132673964T	POLE	NM_006231.4(POLE):c.1227-257G>A	noncoding	Benign
12	132673983	T	G	T132673983G	POLE	NM_006231.4(POLE):c.1227-276A>C	noncoding	Benign
12	132673985	C	T	C132673985T	POLE	NM_006231.4(POLE):c.1227-278G>A	noncoding	Benign
12	132675436	C	T	C132675436T	POLE	NM_006231.4(POLE):c.1188G>A:p.Glu396=	coding	Benign/Likely_benign
12	132675514	T	C	T132675514C	POLE	NM_006231.4(POLE):c.1110A>G:p.Pro370=	coding	Benign/Likely_benign
12	132677626	G	A	G132677626A	POLE	NM_006231.4(POLE):c.672C>T:p.Tyr224=	coding	Benign/Likely_benign
12	132679206	A	C	A132679206C	POLE	NM_006231.4(POLE):c.578+291T>G	noncoding	Benign
12	132680594	G	T	G132680594T	POLE	NM_006231.4(POLE):c.285+13C>A	noncoding	Benign/Likely_benign
12	132680640	G	A	G132680640A	POLE	NM_006231.4(POLE):c.252C>T:p.Tyr84=	coding	Benign/Likely_benign
12	132681293	G	A	G132681293A	POLE	NM_006231.4(POLE):c.63-14C>T	noncoding	Benign/Likely_benign
12	132681301	C	T	C132681301T	POLE	NM_006231.4(POLE):c.63-22G>A	noncoding	Benign
12	132710735	G	T	G132710735T	PGAM5	Single_allele	noncoding	Benign
12	132710832	T	C	T132710832C	PGAM5	Single_allele	noncoding	Benign
12	132710873	C	T	C132710873T	PGAM5	NM_001170543.2(PGAM5):c.-4C>T	noncoding	Benign
12	132717142	G	C	G132717142C	PGAM5	NM_001170543.2(PGAM5):c.371-297G>C	noncoding	Benign
12	132717299	C	A	C132717299A	PGAM5	NM_001170543.2(PGAM5):c.371-140C>A	noncoding	Benign
12	132717645	G	T	G132717645T	PGAM5	NM_001170543.2(PGAM5):c.497-65G>T	noncoding	Benign
12	132717747	C	T	C132717747T	PGAM5	NM_001170543.2(PGAM5):c.534C>T:p.Gly178=	coding	Benign
12	132717785	A	G	A132717785G	PGAM5	NM_001170543.2(PGAM5):c.572A>G:p.Lys191Arg	coding	Benign
12	132718142	C	T	C132718142T	PGAM5	NM_001170543.2(PGAM5):c.719+22C>T	noncoding	Benign
12	132718183	A	G	A132718183G	PGAM5	NM_001170543.2(PGAM5):c.719+63A>G	noncoding	Benign
12	132718767	C	T	C132718767T	PGAM5	NM_001170543.2(PGAM5):c.719+647C>T	coding	Benign
12	132718796	C	G	C132718796G	PGAM5	NM_001170543.2(PGAM5):c.719+676C>G	coding	Benign
12	132718915	T	C	T132718915C	PGAM5	NM_001170543.2(PGAM5):c.719+795T>C	coding	Benign
12	132721089	T	C	T132721089C	PGAM5	NM_001170543.2(PGAM5):c.*261T>C	noncoding	Benign
12	132727017	C	T	C132727017T	ANKLE2	NM_015114.3(ANKLE2):c.*225G>A	noncoding	Benign
12	132727031	A	T	A132727031T	ANKLE2	NM_015114.3(ANKLE2):c.*211T>A	noncoding	Benign
12	132727387	C	G	C132727387G	ANKLE2	NM_015114.3(ANKLE2):c.2672G>C:p.Gly891Ala	coding	Benign
12	132727540	G	A	G132727540A	ANKLE2	NM_015114.3(ANKLE2):c.2616-97C>T	noncoding	Benign
12	132727560	C	T	C132727560T	ANKLE2	NM_015114.3(ANKLE2):c.2616-117G>A	noncoding	Benign
12	132727581	G	A	G132727581A	ANKLE2	NM_015114.3(ANKLE2):c.2616-138C>T	noncoding	Benign
12	132727587	C	T	C132727587T	ANKLE2	NM_015114.3(ANKLE2):c.2616-144G>A	noncoding	Benign
12	132727588	A	G	A132727588G	ANKLE2	NM_015114.3(ANKLE2):c.2616-145T>C	noncoding	Benign
12	132727596	G	A	G132727596A	ANKLE2	NM_015114.3(ANKLE2):c.2616-153C>T	noncoding	Benign
12	132727597	T	C	T132727597C	ANKLE2	NM_015114.3(ANKLE2):c.2616-154A>G	noncoding	Benign
12	132727601	A	G	A132727601G	ANKLE2	NM_015114.3(ANKLE2):c.2616-158T>C	noncoding	Benign
12	132727606	C	T	C132727606T	ANKLE2	NM_015114.3(ANKLE2):c.2616-163G>A	noncoding	Benign
12	132727637	C	T	C132727637T	ANKLE2	NM_015114.3(ANKLE2):c.2616-194G>A	noncoding	Benign
12	132728018	C	T	C132728018T	ANKLE2	NM_015114.3(ANKLE2):c.2615+14G>A	noncoding	Benign
12	132730003	C	T	C132730003T	ANKLE2	NM_015114.3(ANKLE2):c.2159G>A:p.Arg720His	coding	Benign
12	132730124	C	T	C132730124T	ANKLE2	NM_015114.3(ANKLE2):c.2038G>A:p.Glu680Lys	coding	Benign
12	132730194	A	G	A132730194G	ANKLE2	NM_015114.3(ANKLE2):c.1968T>C:p.Asn656=	coding	Benign
12	132730341	A	G	A132730341G	ANKLE2	NM_015114.3(ANKLE2):c.1892-71T>C	noncoding	Benign
12	132730342	T	C	T132730342C	ANKLE2	NM_015114.3(ANKLE2):c.1892-72A>G	noncoding	Benign
12	132734301	C	T	C132734301T	ANKLE2	NM_015114.3(ANKLE2):c.1891+84G>A	noncoding	Benign
12	132734406	G	A	G132734406A	ANKLE2	NM_015114.3(ANKLE2):c.1870C>T:p.Arg624Ter	coding	Pathogenic
12	132734787	T	A	T132734787A	ANKLE2	NM_015114.3(ANKLE2):c.1701-212A>T	noncoding	Benign
12	132734788	C	G	C132734788G	ANKLE2	NM_015114.3(ANKLE2):c.1701-213G>C	noncoding	Benign
12	132735302	C	A	C132735302A	ANKLE2	NM_015114.3(ANKLE2):c.1700+104G>T	noncoding	Benign
12	132735302	C	G	C132735302G	ANKLE2	NM_015114.3(ANKLE2):c.1700+104G>C	noncoding	Benign
12	132735358	T	C	T132735358C	ANKLE2	NM_015114.3(ANKLE2):c.1700+48A>G	noncoding	Benign
12	132735605	T	C	T132735605C	ANKLE2	NM_015114.3(ANKLE2):c.1594-93A>G	noncoding	Benign
12	132735826	C	T	C132735826T	ANKLE2	NM_015114.3(ANKLE2):c.1594-314G>A	noncoding	Benign
12	132736641	A	G	A132736641G	ANKLE2	NM_015114.3(ANKLE2):c.1593+252T>C	noncoding	Benign
12	132736651	T	C	T132736651C	ANKLE2	NM_015114.3(ANKLE2):c.1593+242A>G	noncoding	Benign
12	132736751	G	A	G132736751A	ANKLE2	NM_015114.3(ANKLE2):c.1593+142C>T	noncoding	Benign
12	132736786	C	A	C132736786A	ANKLE2	NM_015114.3(ANKLE2):c.1593+107G>T	noncoding	Benign
12	132737203	C	G	C132737203G	ANKLE2	NM_015114.3(ANKLE2):c.1421-138G>C	noncoding	Benign
12	132741135	A	G	A132741135G	ANKLE2	NM_015114.3(ANKLE2):c.1420+284T>C	noncoding	Benign
12	132741307	G	T	G132741307T	ANKLE2	NM_015114.3(ANKLE2):c.1420+112C>A	noncoding	Benign
12	132741392	G	A	G132741392A	ANKLE2	NM_015114.3(ANKLE2):c.1420+27C>T	noncoding	Benign
12	132741657	A	C	A132741657C	ANKLE2	NM_015114.3(ANKLE2):c.1354-172T>G	noncoding	Benign
12	132742948	C	G	C132742948G	ANKLE2	NM_015114.3(ANKLE2):c.1353+206G>C	noncoding	Benign
12	132743105	A	C	A132743105C	ANKLE2	NM_015114.3(ANKLE2):c.1353+49T>G	noncoding	Benign
12	132743344	T	C	T132743344C	ANKLE2	NM_015114.3(ANKLE2):c.1231-68A>G	noncoding	Benign
12	132747814	T	C	T132747814C	ANKLE2	NM_015114.3(ANKLE2):c.1230+18A>G	noncoding	Benign
12	132748003	G	A	G132748003A	ANKLE2	NM_015114.3(ANKLE2):c.1059C>T:p.Asn353=	coding	Benign
12	132748098	C	T	C132748098T	ANKLE2	NM_015114.3(ANKLE2):c.1041+40G>A	noncoding	Benign
12	132748107	A	G	A132748107G	ANKLE2	NM_015114.3(ANKLE2):c.1041+31T>C	noncoding	Benign
12	132748564	G	A	G132748564A	ANKLE2	NM_015114.3(ANKLE2):c.848-233C>T	noncoding	Benign
12	132748598	G	A	G132748598A	ANKLE2	NM_015114.3(ANKLE2):c.848-267C>T	noncoding	Benign
12	132750415	C	T	C132750415T	ANKLE2	NM_015114.3(ANKLE2):c.847+228G>A	noncoding	Benign
12	132750884	A	T	A132750884T	ANKLE2	NM_015114.3(ANKLE2):c.641-35T>A	noncoding	Benign
12	132751120	T	A	T132751120A	ANKLE2	NM_015114.3(ANKLE2):c.641-271A>T	noncoding	Benign
12	132754778	G	A	G132754778A	ANKLE2	NM_015114.3(ANKLE2):c.537C>T:p.Pro179=	coding	Benign
12	132754873	G	C	G132754873C	ANKLE2	NM_015114.3(ANKLE2):c.442C>G:p.Gln148Glu	coding	Benign
12	132754951	G	A	G132754951A	ANKLE2	NM_015114.3(ANKLE2):c.364C>T:p.His122Tyr	coding	Benign
12	132761863	C	A	C132761863A	ANKLE2	Single_allele	noncoding	Benign
12	133203723	G	T	G133203723T	ZNF268	NM_003415.3(ZNF268):c.2037G>T:p.Leu679Phe	coding	Benign
12	133226965	G	C	G133226965C	ANHX	NM_001372060.1(ANHX):c.689C>G:p.Ser230Cys	coding	Benign
13	20026645	C	T	C20026645T	ZMYM2	NM_197968.4(ZMYM2):c.1618C>T:p.Arg540Ter	coding	Pathogenic/Likely_pathogenic
13	20026675	C	T	C20026675T	ZMYM2	NM_197968.4(ZMYM2):c.1648C>T:p.Gln550Ter	coding	Pathogenic
13	20034266	C	T	C20034266T	ZMYM2	NM_197968.4(ZMYM2):c.1981C>T:p.Gln661Ter	coding	Pathogenic
13	20034325	T	C	T20034325C	ZMYM2	NM_197968.4(ZMYM2):c.2040T>C:p.Tyr680=	coding	Benign
13	20034420	A	G	A20034420G	ZMYM2	NM_197968.4(ZMYM2):c.2119+16A>G	noncoding	Benign
13	20058574	G	A	G20058574A	ZMYM2	NM_197968.4(ZMYM2):c.2494-1G>A	noncoding	Pathogenic/Likely_pathogenic
13	20059523	C	G	C20059523G	ZMYM2	NM_197968.4(ZMYM2):c.2700C>G:p.Tyr900Ter	coding	Pathogenic
13	20082034	C	T	C20082034T	ZMYM2	NM_197968.4(ZMYM2):c.3472C>T:p.Arg1158Ter	coding	Pathogenic/Likely_pathogenic
13	20083048	T	G	T20083048G	ZMYM2	NM_197968.4(ZMYM2):c.3820+16T>G	noncoding	Benign
13	20142203	G	T	G20142203T	GJA3	NM_021954.4(GJA3):c.1086C>A:p.Leu362=	coding	Benign
13	20143604	C	T	C20143604T	GJA3	NM_021954.4(GJA3):c.-17-299G>A	noncoding	Benign
13	20188984	C	T	C20188984T	GJB2	NM_004004.6(GJB2):c.598G>A:p.Gly200Arg	coding	Pathogenic/Likely_pathogenic
13	20188990	C	T	C20188990T	GJB2	NM_004004.6(GJB2):c.592G>A:p.Val198Met	coding	Pathogenic
13	20189049	A	G	A20189049G	GJB2	NM_004004.6(GJB2):c.533T>C:p.Val178Ala	coding	Pathogenic/Likely_pathogenic
13	20189174	G	T	G20189174T	GJB2	NM_004004.6(GJB2):c.408C>A:p.Tyr136Ter	coding	Pathogenic/Likely_pathogenic
13	20189183	C	T	C20189183T	GJB2	NM_004004.6(GJB2):c.399G>A:p.Trp133Ter	coding	Pathogenic
13	20189319	G	A	G20189319A	GJB2	NM_004004.6(GJB2):c.263C>T:p.Ala88Val	coding	Pathogenic
13	20189343	T	G	T20189343G	GJB2	NM_004004.6(GJB2):c.239A>C:p.Gln80Pro	coding	Pathogenic/Likely_pathogenic
13	20189374	G	C	G20189374C	GJB2	NM_004004.6(GJB2):c.208C>G:p.Pro70Ala	coding	Pathogenic
13	20189425	A	T	A20189425T	GJB2	NM_004004.6(GJB2):c.157T>A:p.Cys53Ser	coding	Pathogenic
13	20189478	A	C	A20189478C	GJB2	NM_004004.6(GJB2):c.104T>G:p.Ile35Ser	coding	Pathogenic/Likely_pathogenic
13	20189542	T	C	T20189542C	GJB2	NM_004004.6(GJB2):c.40A>G:p.Asn14Asp	coding	Pathogenic
13	20189935	G	T	G20189935T	GJB2	NM_004004.6(GJB2):c.-22-332C>A	noncoding	Benign
13	20191991	G	A	G20191991A	GJB2	NM_004004.6(GJB2):c.-23+792C>T	noncoding	Benign
13	20193129	T	C	T20193129C	GJB2	Single_allele	noncoding	Benign
13	20193170	A	G	A20193170G	GJB2	Single_allele	noncoding	Benign
13	20193244	A	G	A20193244G	GJB2	Single_allele	noncoding	Benign
13	20229444	C	T	C20229444T	GJB6	NM_001110219.3(GJB6):c.-16+136G>A	noncoding	Benign
13	20229527	C	T	C20229527T	GJB6	NM_001110219.3(GJB6):c.-16+53G>A	noncoding	Benign
13	20229798	C	A	C20229798A	GJB6	NM_001110219.3(GJB6):c.-185-49G>T	noncoding	Benign
13	20229798	C	G	C20229798G	GJB6	NM_001110219.3(GJB6):c.-185-49G>C	noncoding	Benign
13	20229804	C	G	C20229804G	GJB6	NM_001110219.3(GJB6):c.-185-55G>C	noncoding	Benign
13	20229805	G	C	G20229805C	GJB6	NM_001110219.3(GJB6):c.-185-56C>G	noncoding	Benign
13	20229806	C	A	C20229806A	GJB6	NM_001110219.3(GJB6):c.-185-57G>T	noncoding	Benign
13	20230214	T	C	T20230214C	GJB6	NM_001110219.3(GJB6):c.-185-465A>G	noncoding	Benign
13	20230433	G	C	G20230433C	GJB6	NM_001110219.3(GJB6):c.-186+265C>G	noncoding	Benign
13	20230725	G	C	G20230725C	GJB6	NM_001110219.3(GJB6):c.-213C>G	noncoding	Benign
13	20232221	G	T	G20232221T	GJB6	NM_001110219.3(GJB6):c.-447C>A	noncoding	Benign
13	20232306	T	C	T20232306C	GJB6	NM_001110219.3(GJB6):c.-532A>G	noncoding	Benign
13	20232627	G	A	G20232627A	GJB6	Single_allele	noncoding	Benign
13	20232684	C	A	C20232684A	GJB6	Single_allele	noncoding	Benign
13	20232862	A	T	A20232862T	GJB6	Single_allele	noncoding	Benign
13	20365892	C	T	C20365892T	CRYL1	Single_allele	noncoding	Benign
13	20366042	T	C	T20366042C	CRYL1	Single_allele	noncoding	Benign
13	20366102	C	G	C20366102G	CRYL1	Single_allele	noncoding	Benign
13	20366191	T	C	T20366191C	CRYL1	Single_allele	noncoding	Benign
13	20366194	C	G	C20366194G	CRYL1	Single_allele	noncoding	Benign
13	20370135	G	A	G20370135A	CRYL1	Single_allele	noncoding	Benign
13	20370204	A	C	A20370204C	CRYL1	Single_allele	noncoding	Benign
13	20380207	C	T	C20380207T	CRYL1	Single_allele	noncoding	Benign
13	20394680	G	A	G20394680A	CRYL1	Single_allele	noncoding	Benign
13	20394826	G	C	G20394826C	CRYL1	Single_allele	noncoding	Benign
13	20399746	C	A	C20399746A	CRYL1	Single_allele	noncoding	Benign
13	20399776	T	C	T20399776C	CRYL1	Single_allele	noncoding	Benign
13	20404365	C	T	C20404365T	CRYL1	NM_015974.3(CRYL1):c.847-123G>A	noncoding	Benign
13	20404476	G	A	G20404476A	CRYL1	NM_015974.3(CRYL1):c.846+159C>T	noncoding	Benign
13	20404525	T	C	T20404525C	CRYL1	NM_015974.3(CRYL1):c.846+110A>G	noncoding	Benign
13	20404888	G	A	G20404888A	CRYL1	NM_015974.3(CRYL1):c.740-147C>T	noncoding	Benign
13	20404889	C	A	C20404889A	CRYL1	NM_015974.3(CRYL1):c.740-148G>T	noncoding	Benign
13	20404965	G	A	G20404965A	CRYL1	NM_015974.3(CRYL1):c.740-224C>T	noncoding	Benign
13	20414493	A	G	A20414493G	CRYL1	NM_015974.3(CRYL1):c.634-1106T>C	noncoding	Benign
13	20414660	G	A	G20414660A	CRYL1	NM_015974.3(CRYL1):c.634-1273C>T	noncoding	Benign
13	20419120	G	A	G20419120A	CRYL1	NM_015974.3(CRYL1):c.634-5733C>T	noncoding	Benign
13	20424298	C	G	C20424298G	CRYL1	NM_015974.3(CRYL1):c.633+7804G>C	noncoding	Benign
13	20424481	A	G	A20424481G	CRYL1	NM_015974.3(CRYL1):c.633+7621T>C	noncoding	Benign
13	20429063	G	C	G20429063C	CRYL1	NM_015974.3(CRYL1):c.633+3039C>G	noncoding	Benign
13	20429375	A	G	A20429375G	CRYL1	NM_015974.3(CRYL1):c.633+2727T>C	noncoding	Benign
13	20432336	T	C	T20432336C	CRYL1	NM_015974.3(CRYL1):c.439-40A>G	noncoding	Benign
13	20439167	G	A	G20439167A	CRYL1	NM_015974.3(CRYL1):c.438+426C>T	noncoding	Benign
13	20439281	G	A	G20439281A	CRYL1	NM_015974.3(CRYL1):c.438+312C>T	noncoding	Benign
13	20439531	G	A	G20439531A	CRYL1	NM_015974.3(CRYL1):c.438+62C>T	noncoding	Benign
13	20439544	C	A	C20439544A	CRYL1	NM_015974.3(CRYL1):c.438+49G>T	noncoding	Benign
13	20439546	C	A	C20439546A	CRYL1	NM_015974.3(CRYL1):c.438+47G>T	noncoding	Benign
13	20439548	G	A	G20439548A	CRYL1	NM_015974.3(CRYL1):c.438+45C>T	noncoding	Benign
13	20439856	A	C	A20439856C	CRYL1	NM_015974.3(CRYL1):c.277-102T>G	noncoding	Benign
13	20439956	C	T	C20439956T	CRYL1	NM_015974.3(CRYL1):c.277-202G>A	noncoding	Benign
13	20448807	T	C	T20448807C	CRYL1	NM_015974.3(CRYL1):c.277-9053A>G	noncoding	Benign
13	20463469	C	G	C20463469G	CRYL1	NM_015974.3(CRYL1):c.277-23715G>C	noncoding	Benign
13	20463504	C	T	C20463504T	CRYL1	NM_015974.3(CRYL1):c.277-23750G>A	noncoding	Benign
13	20463519	A	G	A20463519G	CRYL1	NM_015974.3(CRYL1):c.277-23765T>C	noncoding	Benign
13	20463715	T	C	T20463715C	CRYL1	NM_015974.3(CRYL1):c.277-23961A>G	noncoding	Benign
13	20463763	G	A	G20463763A	CRYL1	NM_015974.3(CRYL1):c.277-24009C>T	noncoding	Benign
13	20473597	C	T	C20473597T	CRYL1	NM_015974.3(CRYL1):c.276+15773G>A	noncoding	Benign
13	20473719	C	T	C20473719T	CRYL1	NM_015974.3(CRYL1):c.276+15651G>A	noncoding	Benign
13	20478357	C	T	C20478357T	CRYL1	NM_015974.3(CRYL1):c.276+11013G>A	noncoding	Benign
13	20478382	T	C	T20478382C	CRYL1	NM_015974.3(CRYL1):c.276+10988A>G	noncoding	Benign
13	20488139	G	A	G20488139A	CRYL1	NM_015974.3(CRYL1):c.276+1231C>T	noncoding	Benign
13	20488214	A	G	A20488214G	CRYL1	NM_015974.3(CRYL1):c.276+1156T>C	noncoding	Benign
13	20489357	G	A	G20489357A	CRYL1	NM_015974.3(CRYL1):c.276+13C>T	noncoding	Benign
13	20489385	A	G	A20489385G	CRYL1	NM_015974.3(CRYL1):c.261T>C:p.Gly87=	coding	Benign
13	20489691	C	T	C20489691T	CRYL1	NM_015974.3(CRYL1):c.150-195G>A	noncoding	Benign
13	20493268	T	G	T20493268G	CRYL1	NM_015974.3(CRYL1):c.150-3772A>C	noncoding	Benign
13	20512234	A	G	A20512234G	CRYL1	NM_015974.3(CRYL1):c.149+209T>C	noncoding	Benign
13	20512419	T	C	T20512419C	CRYL1	NM_015974.3(CRYL1):c.149+24A>G	noncoding	Benign
13	20512460	G	A	G20512460A	CRYL1	NM_015974.3(CRYL1):c.132C>T:p.Asn44=	coding	Benign
13	20525689	A	C	A20525689C	CRYL1	NM_015974.3(CRYL1):c.41+65T>G	noncoding	Benign
13	20525979	G	C	G20525979C	CRYL1	Single_allele	noncoding	Benign
13	20526029	G	T	G20526029T	CRYL1	Single_allele	noncoding	Benign
13	20526030	G	A	G20526030A	CRYL1	Single_allele	noncoding	Benign
13	20567683	A	G	A20567683G	IFT88	NM_006531.5(IFT88):c.-7+427A>G	noncoding	Benign
13	20591000	C	T	C20591000T	IFT88	NM_006531.5(IFT88):c.244C>T:p.Pro82Ser	coding	Benign
13	20591002	A	C	A20591002C	IFT88	NM_006531.5(IFT88):c.246A>C:p.Pro82=	coding	Benign
13	20592352	C	T	C20592352T	IFT88	NM_006531.5(IFT88):c.346C>T:p.Leu116Phe	coding	Benign
13	20596997	G	C	G20596997C	IFT88	NM_006531.5(IFT88):c.490-18G>C	noncoding	Benign
13	20598768	T	C	T20598768C	IFT88	NM_006531.5(IFT88):c.697+15T>C	noncoding	Benign
13	20599444	A	T	A20599444T	IFT88	NM_006531.5(IFT88):c.698-7A>T	noncoding	Benign
13	20601932	G	A	G20601932A	IFT88	NM_006531.5(IFT88):c.1040G>A:p.Ser347Asn	coding	Benign
13	20615801	T	A	T20615801A	IFT88	NM_006531.5(IFT88):c.1121T>A:p.Met374Lys	coding	Benign
13	20615814	T	C	T20615814C	IFT88	NM_006531.5(IFT88):c.1134T>C:p.Tyr378=	coding	Benign
13	20615891	A	G	A20615891G	IFT88	NM_006531.5(IFT88):c.1199+12A>G	noncoding	Benign
13	20625734	A	G	A20625734G	IFT88	NM_006531.5(IFT88):c.1200-16A>G	noncoding	Benign
13	20625763	G	T	G20625763T	IFT88	NM_006531.5(IFT88):c.1213G>T:p.Val405Leu	coding	Benign
13	20643565	G	A	G20643565A	IFT88	NM_006531.5(IFT88):c.1793G>A:p.Arg598His	coding	Benign
13	20644823	A	G	A20644823G	IFT88	NM_006531.5(IFT88):c.1834-20A>G	noncoding	Benign
13	20644845	A	G	A20644845G	IFT88	NM_006531.5(IFT88):c.1836A>G:p.Ser612=	coding	Benign
13	20656448	A	C	A20656448C	IFT88	NM_006531.5(IFT88):c.2068+18A>C	noncoding	Benign
13	20663502	G	A	G20663502A	IFT88	NM_006531.5(IFT88):c.2073G>A:p.Leu691=	coding	Benign
13	20671035	C	T	C20671035T	IFT88	NM_006531.5(IFT88):c.2238C>T:p.Ser746=	coding	Benign
13	20691045	G	A	G20691045A	IFT88	NM_006531.5(IFT88):c.2354-9G>A	noncoding	Benign
13	20691154	A	G	A20691154G	IFT88	NM_006531.5(IFT88):c.2454A>G:p.Gly818=	coding	Benign
13	21672071	C	T	C21672071T	FGF9	NM_002010.3(FGF9):c.159C>T:p.Asp53=	coding	Benign
13	21680766	A	G	A21680766G	FGF9	NM_002010.3(FGF9):c.278-276A>G	noncoding	Benign
13	21681014	T	C	T21681014C	FGF9	NM_002010.3(FGF9):c.278-28T>C	noncoding	Benign
13	21681162	C	T	C21681162T	FGF9	NM_002010.3(FGF9):c.381+17C>T	noncoding	Benign
13	21681261	T	C	T21681261C	FGF9	NM_002010.3(FGF9):c.381+116T>C	noncoding	Benign
13	21700988	A	T	A21700988T	FGF9	NM_002010.3(FGF9):c.382-202A>T	noncoding	Benign
13	21701071	T	C	T21701071C	FGF9	NM_002010.3(FGF9):c.382-119T>C	noncoding	Benign
13	21701374	C	G	C21701374G	FGF9	NM_002010.3(FGF9):c.566C>G:p.Pro189Arg	coding	Pathogenic
13	23203760	T	A	T23203760A	SGCG	NM_000231.3(SGCG):c.66T>A:p.Tyr22Ter	coding	Pathogenic
13	23203781	T	A	T23203781A	SGCG	NM_000231.3(SGCG):c.87T>A:p.Tyr29Ter	coding	Pathogenic
13	23203799	T	A	T23203799A	SGCG	NM_000231.3(SGCG):c.105T>A:p.Cys35Ter	coding	Pathogenic
13	23203822	T	A	T23203822A	SGCG	NM_000231.3(SGCG):c.128T>A:p.Leu43Ter	coding	Pathogenic
13	23234820	C	T	C23234820T	SGCG	NM_000231.3(SGCG):c.297+108C>T	noncoding	Benign
13	23250629	G	A	G23250629A	SGCG	NM_000231.3(SGCG):c.298-1G>A	noncoding	Pathogenic
13	23250864	C	A	C23250864A	SGCG	NM_000231.3(SGCG):c.385+147C>A	noncoding	Benign
13	23250881	G	A	G23250881A	SGCG	NM_000231.3(SGCG):c.385+164G>A	noncoding	Benign
13	23279561	G	T	G23279561T	SGCG	NM_000231.3(SGCG):c.505+83G>T	noncoding	Benign
13	23295420	G	T	G23295420T	SGCG	NM_000231.3(SGCG):c.511G>T:p.Glu171Ter	coding	Pathogenic
13	23295435	G	T	G23295435T	SGCG	NM_000231.3(SGCG):c.526G>T:p.Glu176Ter	coding	Pathogenic
13	23320605	T	G	T23320605G	SGCG	NM_000231.3(SGCG):c.579-32T>G	noncoding	Benign
13	23320607	T	G	T23320607G	SGCG	NM_000231.3(SGCG):c.579-30T>G	noncoding	Benign
13	23320609	T	G	T23320609G	SGCG	NM_000231.3(SGCG):c.579-28T>G	noncoding	Benign
13	23320611	T	G	T23320611G	SGCG	NM_000231.3(SGCG):c.579-26T>G	noncoding	Benign
13	23320613	T	G	T23320613G	SGCG	NM_000231.3(SGCG):c.579-24T>G	noncoding	Benign
13	23320620	T	G	T23320620G	SGCG	NM_000231.3(SGCG):c.579-17T>G	noncoding	Benign
13	23330262	G	T	G23330262T	SACS	NM_014363.6(SACS):c.13614C>A:p.Tyr4538Ter	coding	Pathogenic
13	23330700	G	C	G23330700C	SACS	NM_014363.6(SACS):c.13176C>G:p.Tyr4392Ter	coding	Pathogenic
13	23330720	G	A	G23330720A	SACS	NM_014363.6(SACS):c.13156C>T:p.Arg4386Ter	coding	Pathogenic
13	23330744	G	A	G23330744A	SACS	NM_014363.6(SACS):c.13132C>T:p.Arg4378Ter	coding	Pathogenic/Likely_pathogenic
13	23330791	A	T	A23330791T	SACS	NM_014363.6(SACS):c.13085T>A:p.Leu4362Ter	coding	Pathogenic
13	23330903	G	A	G23330903A	SACS	NM_014363.6(SACS):c.12973C>T:p.Arg4325Ter	coding	Pathogenic/Likely_pathogenic
13	23330922	C	T	C23330922T	SACS	NM_014363.6(SACS):c.12954G>A:p.Trp4318Ter	coding	Pathogenic
13	23331338	C	A	C23331338A	SACS	NM_014363.6(SACS):c.12538G>T:p.Glu4180Ter	coding	Pathogenic
13	23331425	G	A	G23331425A	SACS	NM_014363.6(SACS):c.12451C>T:p.Leu4151=	coding	Benign
13	23331608	G	T	G23331608T	SACS	NM_014363.6(SACS):c.12268C>A:p.His4090Asn	coding	Pathogenic
13	23331644	G	A	G23331644A	SACS	NM_014363.6(SACS):c.12232C>T:p.Arg4078Ter	coding	Pathogenic/Likely_pathogenic
13	23331770	T	A	T23331770A	SACS	NM_014363.6(SACS):c.12106A>T:p.Arg4036Ter	coding	Pathogenic
13	23331862	A	G	A23331862G	SACS	NM_014363.6(SACS):c.12014T>C:p.Leu4005Pro	coding	Pathogenic
13	23332152	G	C	G23332152C	SACS	NM_014363.6(SACS):c.11724C>G:p.Tyr3908Ter	coding	Pathogenic
13	23332270	A	T	A23332270T	SACS	NM_014363.6(SACS):c.11606T>A:p.Leu3869Ter	coding	Pathogenic
13	23333072	G	A	G23333072A	SACS	NM_014363.6(SACS):c.10804C>T:p.Gln3602Ter	coding	Pathogenic/Likely_pathogenic
13	23333379	G	T	G23333379T	SACS	NM_014363.6(SACS):c.10497C>A:p.Tyr3499Ter	coding	Pathogenic/Likely_pathogenic
13	23333889	A	T	A23333889T	SACS	NM_014363.6(SACS):c.9987T>A:p.Cys3329Ter	coding	Pathogenic
13	23333904	T	A	T23333904A	SACS	NM_014363.6(SACS):c.9972A>T:p.Leu3324=	coding	Benign
13	23334010	G	C	G23334010C	SACS	NM_014363.6(SACS):c.9866C>G:p.Ser3289Ter	coding	Pathogenic
13	23334042	C	T	C23334042T	SACS	NM_014363.6(SACS):c.9834G>A:p.Trp3278Ter	coding	Pathogenic
13	23334174	C	T	C23334174T	SACS	NM_014363.6(SACS):c.9702G>A:p.Trp3234Ter	coding	Pathogenic
13	23334509	G	A	G23334509A	SACS	NM_014363.6(SACS):c.9367C>T:p.Gln3123Ter	coding	Pathogenic
13	23335054	A	C	A23335054C	SACS	NM_014363.6(SACS):c.8822T>G:p.Leu2941Ter	coding	Pathogenic
13	23335149	C	T	C23335149T	SACS	NM_014363.6(SACS):c.8727G>A:p.Trp2909Ter	coding	Pathogenic/Likely_pathogenic
13	23335160	G	A	G23335160A	SACS	NM_014363.6(SACS):c.8716C>T:p.Arg2906Ter	coding	Pathogenic
13	23335744	G	T	G23335744T	SACS	NM_014363.6(SACS):c.8132C>A:p.Ser2711Ter	coding	Pathogenic
13	23335769	G	A	G23335769A	SACS	NM_014363.6(SACS):c.8107C>T:p.Arg2703Cys	coding	Pathogenic
13	23336602	C	G	C23336602G	SACS	NM_014363.6(SACS):c.7274G>C:p.Arg2425Pro	coding	Pathogenic
13	23336621	C	A	C23336621A	SACS	NM_014363.6(SACS):c.7255G>T:p.Glu2419Ter	coding	Pathogenic
13	23336624	C	A	C23336624A	SACS	NM_014363.6(SACS):c.7252G>T:p.Glu2418Ter	coding	Pathogenic
13	23336742	A	C	A23336742C	SACS	NM_014363.6(SACS):c.7134T>G:p.Tyr2378Ter	coding	Pathogenic
13	23336766	G	C	G23336766C	SACS	NM_014363.6(SACS):c.7110C>G:p.Tyr2370Ter	coding	Pathogenic
13	23337031	A	T	A23337031T	SACS	NM_014363.6(SACS):c.6845T>A:p.Leu2282Ter	coding	Pathogenic
13	23337226	G	T	G23337226T	SACS	NM_014363.6(SACS):c.6650C>A:p.Pro2217Gln	coding	Pathogenic/Likely_pathogenic
13	23337576	A	T	A23337576T	SACS	NM_014363.6(SACS):c.6300T>A:p.Cys2100Ter	coding	Pathogenic
13	23337750	G	T	G23337750T	SACS	NM_014363.6(SACS):c.6126C>A:p.Cys2042Ter	coding	Pathogenic
13	23338115	A	C	A23338115C	SACS	NM_014363.6(SACS):c.5761T>G:p.Tyr1921Asp	coding	Pathogenic
13	23338925	G	A	G23338925A	SACS	NM_014363.6(SACS):c.4951C>T:p.Gln1651Ter	coding	Pathogenic
13	23339152	C	G	C23339152G	SACS	NM_014363.6(SACS):c.4724G>C:p.Arg1575Pro	coding	Pathogenic
13	23339158	A	C	A23339158C	SACS	NM_014363.6(SACS):c.4718T>G:p.Met1573Arg	coding	Pathogenic
13	23340048	T	C	T23340048C	SACS	NM_014363.6(SACS):c.3828A>G:p.Pro1276=	coding	Benign/Likely_benign
13	23340131	G	A	G23340131A	SACS	NM_014363.6(SACS):c.3745C>T:p.Gln1249Ter	coding	Pathogenic
13	23340175	C	T	C23340175T	SACS	NM_014363.6(SACS):c.3701G>A:p.Trp1234Ter	coding	Pathogenic
13	23340392	C	A	C23340392A	SACS	NM_014363.6(SACS):c.3484G>T:p.Glu1162Ter	coding	Pathogenic
13	23340449	G	A	G23340449A	SACS	NM_014363.6(SACS):c.3427C>T:p.Gln1143Ter	coding	Pathogenic/Likely_pathogenic
13	23340782	C	A	C23340782A	SACS	NM_014363.6(SACS):c.3094G>T:p.Glu1032Ter	coding	Pathogenic
13	23340889	A	C	A23340889C	SACS	NM_014363.6(SACS):c.2987T>G:p.Leu996Ter	coding	Pathogenic
13	23340893	C	A	C23340893A	SACS	NM_014363.6(SACS):c.2983G>T:p.Val995Phe	coding	Benign/Likely_benign
13	23340926	C	A	C23340926A	SACS	NM_014363.6(SACS):c.2950G>T:p.Glu984Ter	coding	Pathogenic
13	23341283	T	A	T23341283A	SACS	NM_014363.6(SACS):c.2593A>T:p.Lys865Ter	coding	Pathogenic
13	23341298	G	A	G23341298A	SACS	NM_014363.6(SACS):c.2578C>T:p.Gln860Ter	coding	Pathogenic
13	23353769	T	C	T23353769C	SACS	NM_014363.6(SACS):c.2185+16A>G	noncoding	Benign
13	23353824	G	A	G23353824A	SACS	NM_014363.6(SACS):c.2146C>T:p.His716Tyr	coding	Benign/Likely_benign
13	23354058	G	A	G23354058A	SACS	NM_014363.6(SACS):c.2094-182C>T	noncoding	Benign
13	23354640	G	A	G23354640A	SACS	NM_014363.6(SACS):c.1972C>T:p.Gln658Ter	coding	Pathogenic
13	23354728	G	A	G23354728A	SACS	NM_014363.6(SACS):c.1884C>T:p.Pro628=	coding	Benign/Likely_benign
13	23354829	G	A	G23354829A	SACS	NM_014363.6(SACS):c.1783C>T:p.Gln595Ter	coding	Pathogenic
13	23355238	T	C	T23355238C	SACS	NM_014363.6(SACS):c.1374A>G:p.Thr458=	coding	Benign/Likely_benign
13	23355797	C	T	C23355797T	SACS	NM_014363.6(SACS):c.815G>A:p.Arg272His	coding	Pathogenic/Likely_pathogenic
13	23356106	G	A	G23356106A	SACS	NM_014363.6(SACS):c.605-99C>T	noncoding	Benign
13	23365170	A	T	A23365170T	SACS	NM_014363.6(SACS):c.453T>A:p.Tyr151Ter	coding	Pathogenic
13	23371046	G	A	G23371046A	SACS	NM_014363.6(SACS):c.259+32C>T	noncoding	Benign
13	23371396	T	C	T23371396C	SACS	NM_014363.6(SACS):c.172-231A>G	noncoding	Benign
13	23760076	T	G	T23760076G	MIPEP	NM_005932.4(MIPEP):c.1970+20A>C	noncoding	Benign
13	23809990	C	T	C23809990T	MIPEP	NM_005932.4(MIPEP):c.1654-66G>A	noncoding	Benign
13	23836139	G	A	G23836139A	MIPEP	NM_005932.4(MIPEP):c.1653+101C>T	noncoding	Benign
13	23837633	T	C	T23837633C	MIPEP	NM_005932.4(MIPEP):c.1462A>G:p.Ser488Gly	coding	Benign
13	23841304	T	C	T23841304C	MIPEP	NM_005932.4(MIPEP):c.1260+31A>G	noncoding	Benign
13	23841595	G	A	G23841595A	MIPEP	NM_005932.4(MIPEP):c.1107-107C>T	noncoding	Benign
13	23858965	T	C	T23858965C	MIPEP	NM_005932.4(MIPEP):c.1054-53A>G	noncoding	Benign
13	23859105	A	G	A23859105G	MIPEP	NM_005932.4(MIPEP):c.1054-193T>C	noncoding	Benign
13	23862336	C	T	C23862336T	MIPEP	NM_005932.4(MIPEP):c.1019G>A:p.Arg340Gln	coding	Benign
13	23862558	G	A	G23862558A	MIPEP	NM_005932.4(MIPEP):c.993-196C>T	noncoding	Benign
13	23869092	A	T	A23869092T	MIPEP	NM_005932.4(MIPEP):c.943+200T>A	noncoding	Benign
13	23869373	T	G	T23869373G	MIPEP	NM_005932.4(MIPEP):c.862A>C:p.Ser288Arg	coding	Benign
13	23869624	T	C	T23869624C	MIPEP	NM_005932.4(MIPEP):c.787-176A>G	noncoding	Benign
13	23869849	T	C	T23869849C	MIPEP	NM_005932.4(MIPEP):c.786+164A>G	noncoding	Benign
13	23870206	G	A	G23870206A	MIPEP	NM_005932.4(MIPEP):c.604-11C>T	noncoding	Benign
13	23881547	T	C	T23881547C	MIPEP	NM_005932.4(MIPEP):c.452+152A>G	noncoding	Benign
13	23881683	G	A	G23881683A	MIPEP	NM_005932.4(MIPEP):c.452+16C>T	noncoding	Benign
13	23888993	C	G	C23888993G	MIPEP	NM_005932.4(MIPEP):c.189+139G>C	coding	Benign
13	23889479	C	G	C23889479G	MIPEP	NM_001014442.4(PCOTH):c.-186+468C>G	noncoding	Benign
13	24883069	T	C	T24883069C	CENPJ	NM_018451.5(CENPJ):c.*108A>G	noncoding	Benign
13	24883246	C	T	C24883246T	CENPJ	NM_018451.5(CENPJ):c.3948G>A:p.Thr1316=	coding	Benign
13	24883883	G	A	G24883883A	CENPJ	NM_018451.5(CENPJ):c.3824+80C>T	noncoding	Benign
13	24883942	G	C	G24883942C	CENPJ	NM_018451.5(CENPJ):c.3824+21C>G	noncoding	Benign
13	24884942	A	C	A24884942C	CENPJ	NM_018451.5(CENPJ):c.3477+334T>G	noncoding	Benign
13	24885659	G	A	G24885659A	CENPJ	NM_018451.5(CENPJ):c.3313C>T:p.Arg1105Ter	coding	Pathogenic
13	24889591	A	G	A24889591G	CENPJ	NM_018451.5(CENPJ):c.3217-191T>C	noncoding	Benign
13	24892363	G	C	G24892363C	CENPJ	NM_018451.5(CENPJ):c.3216+280C>G	noncoding	Benign
13	24892500	G	C	G24892500C	CENPJ	NM_018451.5(CENPJ):c.3216+143C>G	noncoding	Benign
13	24904354	T	A	T24904354A	CENPJ	NM_018451.5(CENPJ):c.2693-296A>T	noncoding	Benign
13	24907954	T	A	T24907954A	CENPJ	NM_018451.5(CENPJ):c.974+64A>T	noncoding	Benign
13	24909879	G	A	G24909879A	CENPJ	NM_018451.5(CENPJ):c.776C>T:p.Ala259Val	coding	Benign
13	24910021	C	A	C24910021A	CENPJ	NM_018451.5(CENPJ):c.634G>T:p.Glu212Ter	coding	Pathogenic/Likely_pathogenic
13	24912236	C	T	C24912236T	CENPJ	NM_018451.5(CENPJ):c.445-167G>A	noncoding	Benign
13	25468959	T	G	T25468959G	ATP8A2	NM_016529.6(ATP8A2):c.77-18T>G	noncoding	Benign
13	25468975	A	G	A25468975G	ATP8A2	NM_016529.6(ATP8A2):c.77-2A>G	noncoding	Pathogenic
13	25469044	A	C	A25469044C	ATP8A2	NM_016529.6(ATP8A2):c.144A>C:p.Gly48=	coding	Benign
13	25469107	C	T	C25469107T	ATP8A2	NM_016529.6(ATP8A2):c.207C>T:p.Arg69=	coding	Benign
13	25532313	A	C	A25532313C	ATP8A2	NM_016529.6(ATP8A2):c.462A>C:p.Thr154=	coding	Benign
13	25533330	A	G	A25533330G	ATP8A2	NM_016529.6(ATP8A2):c.507+17A>G	noncoding	Benign
13	25551352	G	A	G25551352A	ATP8A2	NM_016529.6(ATP8A2):c.906G>A:p.Ala302=	coding	Benign
13	25551442	G	A	G25551442A	ATP8A2	NM_016529.6(ATP8A2):c.996G>A:p.Ser332=	coding	Benign
13	25551512	C	A	C25551512A	ATP8A2	NM_016529.6(ATP8A2):c.1057+9C>A	noncoding	Benign
13	25551513	G	A	G25551513A	ATP8A2	NM_016529.6(ATP8A2):c.1057+10G>A	noncoding	Benign
13	25553773	A	C	A25553773C	ATP8A2	NM_016529.6(ATP8A2):c.1058-20A>C	noncoding	Benign
13	25553958	T	C	T25553958C	ATP8A2	NM_016529.6(ATP8A2):c.1185+38T>C	noncoding	Benign
13	25553991	A	G	A25553991G	ATP8A2	NM_016529.6(ATP8A2):c.1185+71A>G	noncoding	Benign
13	25559075	T	C	T25559075C	ATP8A2	NM_016529.6(ATP8A2):c.1352+14T>C	noncoding	Benign
13	25563943	T	G	T25563943G	ATP8A2	NM_016529.6(ATP8A2):c.1398-13T>G	noncoding	Benign/Likely_benign
13	25563947	C	G	C25563947G	ATP8A2	NM_016529.6(ATP8A2):c.1398-9C>G	noncoding	Benign
13	25570758	C	T	C25570758T	ATP8A2	NM_016529.6(ATP8A2):c.1474-9C>T	noncoding	Benign
13	25570853	C	T	C25570853T	ATP8A2	NM_016529.6(ATP8A2):c.1560C>T:p.Ile520=	coding	Benign
13	25574828	C	T	C25574828T	ATP8A2	NM_016529.6(ATP8A2):c.1683C>T:p.Phe561=	coding	Benign
13	25574849	A	G	A25574849G	ATP8A2	NM_016529.6(ATP8A2):c.1704A>G:p.Glu568=	coding	Benign
13	25577066	C	T	C25577066T	ATP8A2	NM_016529.6(ATP8A2):c.1713-3C>T	noncoding	Benign
13	25577112	C	T	C25577112T	ATP8A2	NM_016529.6(ATP8A2):c.1756C>T:p.Arg586Ter	coding	Pathogenic/Likely_pathogenic
13	25577113	G	A	G25577113A	ATP8A2	NM_016529.6(ATP8A2):c.1757G>A:p.Arg586Gln	coding	Benign
13	25577114	A	G	A25577114G	ATP8A2	NM_016529.6(ATP8A2):c.1758A>G:p.Arg586=	coding	Benign
13	25578802	C	G	C25578802G	ATP8A2	NM_016529.6(ATP8A2):c.1783-13C>G	noncoding	Benign
13	25579875	C	G	C25579875G	ATP8A2	NM_016529.6(ATP8A2):c.1935C>G:p.Val645=	coding	Benign
13	25579954	G	A	G25579954A	ATP8A2	NM_016529.6(ATP8A2):c.2007+7G>A	noncoding	Benign
13	25581802	A	C	A25581802C	ATP8A2	NM_016529.6(ATP8A2):c.2008-17A>C	noncoding	Benign
13	25581815	G	C	G25581815C	ATP8A2	NM_016529.6(ATP8A2):c.2008-4G>C	noncoding	Benign
13	25581905	A	G	A25581905G	ATP8A2	NM_016529.6(ATP8A2):c.2094A>G:p.Glu698=	coding	Benign
13	25589657	G	A	G25589657A	ATP8A2	NM_016529.6(ATP8A2):c.2169G>A:p.Ser723=	coding	Benign/Likely_benign
13	25699172	G	C	G25699172C	ATP8A2	NM_016529.6(ATP8A2):c.2212-1G>C	noncoding	Pathogenic
13	25699239	G	A	G25699239A	ATP8A2	NM_016529.6(ATP8A2):c.2278G>A:p.Val760Met	coding	Benign/Likely_benign
13	25699247	G	C	G25699247C	ATP8A2	NM_016529.6(ATP8A2):c.2286G>C:p.Leu762=	coding	Benign
13	25699265	C	A	C25699265A	ATP8A2	NM_016529.6(ATP8A2):c.2304C>A:p.Thr768=	coding	Benign
13	25699400	C	T	C25699400T	ATP8A2	NM_016529.6(ATP8A2):c.2384+55C>T	noncoding	Benign
13	25769211	G	A	G25769211A	ATP8A2	NM_016529.6(ATP8A2):c.2550G>A:p.Ser850=	coding	Benign
13	25769220	C	T	C25769220T	ATP8A2	NM_016529.6(ATP8A2):c.2559C>T:p.Ala853=	coding	Benign
13	25774938	C	T	C25774938T	ATP8A2	NM_016529.6(ATP8A2):c.2658C>T:p.Asn886=	coding	Benign
13	25860789	C	G	C25860789G	ATP8A2	NM_016529.6(ATP8A2):c.3019-15C>G	noncoding	Benign
13	25860879	T	C	T25860879C	ATP8A2	NM_016529.6(ATP8A2):c.3075+19T>C	noncoding	Benign/Likely_benign
13	25862287	A	G	A25862287G	ATP8A2	NM_016529.6(ATP8A2):c.3076-14A>G	noncoding	Benign
13	25862363	G	A	G25862363A	ATP8A2	NM_016529.6(ATP8A2):c.3138G>A:p.Ser1046=	coding	Benign
13	25862503	C	T	C25862503T	ATP8A2	NM_016529.6(ATP8A2):c.3183+95C>T	noncoding	Benign
13	25961487	G	A	G25961487A	ATP8A2	NM_016529.6(ATP8A2):c.3184-88G>A	noncoding	Benign
13	25961596	G	A	G25961596A	ATP8A2	NM_016529.6(ATP8A2):c.3205G>A:p.Ala1069Thr	coding	Benign
13	26012637	C	T	C26012637T	ATP8A2	NM_016529.6(ATP8A2):c.3469+15C>T	noncoding	Benign
13	26385274	T	G	T26385274G	CDK8	NM_001260.3(CDK8):c.578T>G:p.Val193Gly	coding	Pathogenic
13	26400425	G	A	G26400425A	CDK8	NM_001260.3(CDK8):c.934-28G>A	noncoding	Benign
13	26758699	A	G	A26758699G	GPR12	NM_005288.4(GPR12):c.*124T>C	noncoding	Benign
13	26759887	T	C	T26759887C	GPR12	NM_005288.4(GPR12):c.-15-45A>G	noncoding	Benign
13	26759947	T	C	T26759947C	GPR12	NM_005288.4(GPR12):c.-15-105A>G	noncoding	Benign
13	27253674	C	T	C27253674T	RPL21	NM_000982.4(RPL21):c.-12-91C>T	noncoding	Benign
13	27253852	G	A	G27253852A	RPL21	NM_000982.4(RPL21):c.67+9G>A	noncoding	Benign
13	27253904	A	G	A27253904G	RPL21	NM_000982.4(RPL21):c.67+61A>G	noncoding	Benign
13	27255173	G	A	G27255173A	RPL21	NM_000982.4(RPL21):c.130-69G>A	noncoding	Benign
13	27255271	C	T	C27255271T	RPL21	NM_000982.4(RPL21):c.159C>T:p.Pro53=	coding	Benign
13	27255962	A	G	A27255962G	RPL21	NM_000982.4(RPL21):c.243-222A>G	noncoding	Benign
13	27621695	C	T	C27621695T	POLR1D	NM_001206559.2(POLR1D):c.-59+555C>T	noncoding	Benign
13	27621752	G	A	G27621752A	POLR1D	NM_001206559.2(POLR1D):c.-59+612G>A	noncoding	Benign
13	27621835	C	T	C27621835T	POLR1D	NM_015972.3(POLR1D):c.-149C>T	noncoding	Benign
13	27621896	G	C	G27621896C	POLR1D	NM_015972.4(POLR1D):c.-88G>C	noncoding	Benign
13	27622027	G	A	G27622027A	POLR1D	NM_015972.4(POLR1D):c.26+18G>A	noncoding	Benign
13	27622067	G	T	G27622067T	POLR1D	NM_015972.4(POLR1D):c.26+58G>T	noncoding	Benign
13	27622184	A	G	A27622184G	POLR1D	NM_015972.4(POLR1D):c.26+175A>G	noncoding	Benign
13	27622261	G	A	G27622261A	POLR1D	NM_015972.4(POLR1D):c.26+252G>A	noncoding	Benign
13	27622695	G	A	G27622695A	POLR1D	NM_015972.4(POLR1D):c.27-180G>A	noncoding	Benign
13	27623299	C	T	C27623299T	POLR1D	NM_015972.4(POLR1D):c.*49C>T	coding	Benign
13	27648184	A	G	A27648184G	POLR1D	NM_152705.3(POLR1D):c.27-195A>G	noncoding	Benign
13	27665803	G	C	G27665803C	POLR1D	NM_152705.3(POLR1D):c.219G>C:p.Ala73_Lys74=	coding	Benign
13	27665833	G	A	G27665833A	POLR1D	NM_152705.3(POLR1D):c.249G>A:p.Pro83_Lys84=	coding	Benign
13	27666140	G	A	G27666140A	POLR1D	NM_152705.3(POLR1D):c.*187G>A	noncoding	Benign
13	27919720	T	G	T27919720G	PDX1	Single_allele	noncoding	Benign
13	27924128	C	G	C27924128G	PDX1	NM_000209.4(PDX1):c.407-128C>G	noncoding	Benign
13	27924512	G	A	G27924512A	PDX1	NM_000209.4(PDX1):c.663G>A:p.Ala221=	coding	Benign
13	28004076	C	T	C28004076T	FLT3	NM_004119.3(FLT3):c.2958G>A:p.Pro986=	coding	Benign
13	28015130	C	T	C28015130T	FLT3	NM_004119.3(FLT3):c.2753+27G>A	noncoding	Benign
13	28015358	C	G	C28015358G	FLT3	NM_004119.3(FLT3):c.2654-102G>C	noncoding	Benign
13	28015372	C	T	C28015372T	FLT3	NM_004119.3(FLT3):c.2654-116G>A	noncoding	Benign
13	28015525	C	G	C28015525G	FLT3	NM_004119.3(FLT3):c.2653+65G>C	noncoding	Benign
13	28016005	C	G	C28016005G	FLT3	NM_004119.3(FLT3):c.2542-304G>C	noncoding	Benign
13	28018409	T	C	T28018409C	FLT3	NM_004119.3(FLT3):c.2541+58A>G	noncoding	Benign
13	28018776	C	T	C28018776T	FLT3	NM_004119.3(FLT3):c.2419-187G>A	noncoding	Benign
13	28023050	C	T	C28023050T	FLT3	NM_004119.3(FLT3):c.2418+300G>A	noncoding	Benign
13	28023222	C	T	C28023222T	FLT3	NM_004119.3(FLT3):c.2418+128G>A	noncoding	Benign
13	28023702	G	A	G28023702A	FLT3	NM_004119.3(FLT3):c.2291-225C>T	noncoding	Benign
13	28024688	T	C	T28024688C	FLT3	NM_004119.3(FLT3):c.2290+173A>G	noncoding	Benign
13	28027484	C	T	C28027484T	FLT3	NM_004119.3(FLT3):c.2054-243G>A	noncoding	Benign
13	28027514	T	C	T28027514C	FLT3	NM_004119.3(FLT3):c.2054-273A>G	noncoding	Benign
13	28027857	G	A	G28027857A	FLT3	NM_004119.3(FLT3):c.2053+321C>T	noncoding	Benign
13	28028119	C	T	C28028119T	FLT3	NM_004119.3(FLT3):c.2053+59G>A	noncoding	Benign
13	28028155	T	C	T28028155C	FLT3	NM_004119.3(FLT3):c.2053+23A>G	noncoding	Benign
13	28033779	T	A	T28033779A	FLT3	NM_004119.3(FLT3):c.1942+108A>T	noncoding	Benign
13	28033852	T	G	T28033852G	FLT3	NM_004119.3(FLT3):c.1942+35A>C	noncoding	Benign
13	28034322	T	C	T28034322C	FLT3	NM_004119.3(FLT3):c.1683A>G:p.Leu561=	coding	Benign
13	28034336	C	T	C28034336T	FLT3	NM_004119.3(FLT3):c.1669G>A:p.Val557Ile	coding	Benign
13	28035259	T	C	T28035259C	FLT3	NM_004119.3(FLT3):c.1597+236A>G	noncoding	Benign
13	28035262	G	C	G28035262C	FLT3	NM_004119.3(FLT3):c.1597+233C>G	noncoding	Benign
13	28035688	A	G	A28035688G	FLT3	NM_004119.3(FLT3):c.1419-15T>C	noncoding	Benign
13	28035709	A	T	A28035709T	FLT3	NM_004119.3(FLT3):c.1419-36T>A	noncoding	Benign
13	28035854	T	C	T28035854C	FLT3	NM_004119.3(FLT3):c.1418+81A>G	noncoding	Benign
13	28035860	T	C	T28035860C	FLT3	NM_004119.3(FLT3):c.1418+75A>G	noncoding	Benign
13	28036046	A	G	A28036046G	FLT3	NM_004119.3(FLT3):c.1310-3T>C	noncoding	Benign
13	28036218	T	A	T28036218A	FLT3	NM_004119.3(FLT3):c.1310-175A>T	noncoding	Benign
13	28037012	A	G	A28037012G	FLT3	NM_004119.3(FLT3):c.1309+173T>C	noncoding	Benign
13	28037493	T	C	T28037493C	FLT3	NM_004119.3(FLT3):c.1206-205A>G	noncoding	Benign
13	28037532	C	T	C28037532T	FLT3	NM_004119.3(FLT3):c.1206-244G>A	noncoding	Benign
13	28048051	G	A	G28048051A	FLT3	NM_004119.3(FLT3):c.1205+224C>T	noncoding	Benign
13	28048219	G	A	G28048219A	FLT3	NM_004119.3(FLT3):c.1205+56C>T	noncoding	Benign
13	28049562	G	T	G28049562T	FLT3	NM_004119.3(FLT3):c.883-25C>A	noncoding	Benign
13	28049622	C	T	C28049622T	FLT3	NM_004119.3(FLT3):c.882+13G>A	noncoding	Benign
13	28050157	G	A	G28050157A	FLT3	NM_004119.3(FLT3):c.680C>T:p.Thr227Met	coding	Benign
13	28050237	G	T	G28050237T	FLT3	NM_004119.3(FLT3):c.615-15C>A	noncoding	Benign
13	28050294	C	T	C28050294T	FLT3	NM_004119.3(FLT3):c.615-72G>A	noncoding	Benign
13	28050406	C	A	C28050406A	FLT3	NM_004119.3(FLT3):c.615-184G>T	noncoding	Benign
13	28050450	C	T	C28050450T	FLT3	NM_004119.3(FLT3):c.615-228G>A	noncoding	Benign
13	28050519	G	C	G28050519C	FLT3	NM_004119.3(FLT3):c.615-297C>G	noncoding	Benign
13	28052888	C	G	C28052888G	FLT3	NM_004119.3(FLT3):c.485-214G>C	noncoding	Benign
13	28057266	G	A	G28057266A	FLT3	NM_004119.3(FLT3):c.484+81C>T	noncoding	Benign
13	28057731	A	G	A28057731G	FLT3	NM_004119.3(FLT3):c.369-269T>C	noncoding	Benign
13	28061947	G	A	G28061947A	FLT3	NM_004119.3(FLT3):c.288C>T:p.Asp96=	coding	Benign
13	28062175	C	T	C28062175T	FLT3	NM_004119.3(FLT3):c.166-106G>A	noncoding	Benign
13	28062217	C	T	C28062217T	FLT3	NM_004119.3(FLT3):c.166-148G>A	noncoding	Benign
13	28062309	G	A	G28062309A	FLT3	NM_004119.3(FLT3):c.166-240C>T	noncoding	Benign
13	28070373	C	A	C28070373A	FLT3	NM_004119.3(FLT3):c.165+118G>T	noncoding	Benign
13	28070693	A	G	A28070693G	FLT3	NM_004119.3(FLT3):c.44-81T>C	noncoding	Benign
13	28070748	T	C	T28070748C	FLT3	NM_004119.3(FLT3):c.44-136A>G	noncoding	Benign
13	28070868	C	T	C28070868T	FLT3	NM_004119.3(FLT3):c.44-256G>A	noncoding	Benign
13	28100491	T	C	T28100491C	FLT3	NM_004119.3(FLT3):c.20A>G:p.Asp7Gly	coding	Benign
13	28100741	C	T	C28100741T	FLT3	Single_allele	noncoding	Benign
13	28319505	A	G	A28319505G	FLT1	NM_002019.4(FLT1):c.3204T>C:p.Pro1068=	coding	Benign
13	28659206	G	C	G28659206C	POMP	NM_015932.6(POMP):c.3+19G>C	noncoding	Benign
13	28662209	A	T	A28662209T	POMP	NM_015932.6(POMP):c.4-201A>T	noncoding	Benign
13	28662352	C	T	C28662352T	POMP	NM_015932.6(POMP):c.4-58C>T	noncoding	Benign
13	28662516	G	A	G28662516A	POMP	NM_015932.6(POMP):c.101+9G>A	noncoding	Benign
13	28664439	T	C	T28664439C	POMP	NM_015932.6(POMP):c.102-70T>C	noncoding	Benign
13	28668462	G	A	G28668462A	POMP	NM_015932.6(POMP):c.163-11G>A	noncoding	Benign
13	28672069	A	G	A28672069G	POMP	NM_015932.6(POMP):c.265-270A>G	noncoding	Benign
13	28678023	G	C	G28678023C	POMP	NM_015932.6(POMP):c.359-12G>C	noncoding	Benign
13	30459095	C	T	C30459095T	HMGB1	NM_002128.7(HMGB1):c.*2262G>A	noncoding	Benign
13	31222832	G	C	G31222832C	B3GLCT	NM_194318.4(B3GLCT):c.121-120G>C	noncoding	Benign
13	31222869	A	G	A31222869G	B3GLCT	NM_194318.4(B3GLCT):c.121-83A>G	noncoding	Benign
13	31246956	T	C	T31246956C	B3GLCT	NM_194318.4(B3GLCT):c.271-67T>C	noncoding	Benign
13	31260874	T	C	T31260874C	B3GLCT	NM_194318.4(B3GLCT):c.460-72T>C	noncoding	Benign
13	31261238	G	A	G31261238A	B3GLCT	NM_194318.4(B3GLCT):c.596+156G>A	noncoding	Benign
13	31269360	A	G	A31269360G	B3GLCT	NM_194318.4(B3GLCT):c.660+83A>G	noncoding	Benign
13	31269461	A	G	A31269461G	B3GLCT	NM_194318.4(B3GLCT):c.660+184A>G	noncoding	Benign
13	31269489	A	G	A31269489G	B3GLCT	NM_194318.4(B3GLCT):c.660+212A>G	noncoding	Benign
13	31269527	A	G	A31269527G	B3GLCT	NM_194318.4(B3GLCT):c.660+250A>G	noncoding	Benign
13	31274246	A	G	A31274246G	B3GLCT	NM_194318.4(B3GLCT):c.661-263A>G	noncoding	Benign
13	31274398	G	A	G31274398A	B3GLCT	NM_194318.4(B3GLCT):c.661-111G>A	noncoding	Benign
13	31274686	A	G	A31274686G	B3GLCT	NM_194318.4(B3GLCT):c.780+58A>G	noncoding	Benign
13	31276577	G	C	G31276577C	B3GLCT	NM_194318.4(B3GLCT):c.781-125G>C	noncoding	Benign
13	31276852	G	A	G31276852A	B3GLCT	NM_194318.4(B3GLCT):c.850+81G>A	noncoding	Benign
13	31276922	A	G	A31276922G	B3GLCT	NM_194318.4(B3GLCT):c.850+151A>G	noncoding	Benign
13	31284902	T	A	T31284902A	B3GLCT	NM_194318.4(B3GLCT):c.964+141T>A	noncoding	Benign
13	31286632	G	C	G31286632C	B3GLCT	NM_194318.4(B3GLCT):c.965-88G>C	noncoding	Benign
13	31286922	G	A	G31286922A	B3GLCT	NM_194318.4(B3GLCT):c.1064+103G>A	noncoding	Benign
13	31317424	T	C	T31317424C	B3GLCT	NM_194318.4(B3GLCT):c.1065-142T>C	noncoding	Benign
13	31317641	C	A	C31317641A	B3GLCT	NM_194318.4(B3GLCT):c.1140C>A:p.Tyr380Ter	coding	Pathogenic
13	31317668	C	G	C31317668G	B3GLCT	NM_194318.4(B3GLCT):c.1167C>G:p.Tyr389Ter	coding	Pathogenic
13	31758155	C	G	C31758155G	RXFP2	NM_130806.5(RXFP2):c.95-103C>G	noncoding	Benign
13	31758419	C	T	C31758419T	RXFP2	NM_130806.5(RXFP2):c.241+15C>T	noncoding	Benign
13	31758524	T	C	T31758524C	RXFP2	NM_130806.5(RXFP2):c.241+120T>C	noncoding	Benign
13	31758543	T	C	T31758543C	RXFP2	NM_130806.5(RXFP2):c.241+139T>C	noncoding	Benign
13	31761703	A	T	A31761703T	RXFP2	NM_130806.5(RXFP2):c.242-21A>T	noncoding	Benign
13	31761743	G	A	G31761743A	RXFP2	NM_130806.5(RXFP2):c.261G>A:p.Ala87=	coding	Benign
13	31761903	C	T	C31761903T	RXFP2	NM_130806.5(RXFP2):c.319+102C>T	noncoding	Benign
13	31764875	G	A	G31764875A	RXFP2	NM_130806.5(RXFP2):c.320-162G>A	noncoding	Benign
13	31765245	C	T	C31765245T	RXFP2	NM_130806.5(RXFP2):c.425+103C>T	noncoding	Benign
13	31765328	T	G	T31765328G	RXFP2	NM_130806.5(RXFP2):c.425+186T>G	noncoding	Benign
13	31765424	T	C	T31765424C	RXFP2	NM_130806.5(RXFP2):c.425+282T>C	noncoding	Benign
13	31774436	T	C	T31774436C	RXFP2	NM_130806.5(RXFP2):c.498-184T>C	noncoding	Benign
13	31774722	T	C	T31774722C	RXFP2	NM_130806.5(RXFP2):c.569+31T>C	noncoding	Benign
13	31774850	C	T	C31774850T	RXFP2	NM_130806.5(RXFP2):c.569+159C>T	noncoding	Benign
13	31774880	A	G	A31774880G	RXFP2	NM_130806.5(RXFP2):c.569+189A>G	noncoding	Benign
13	31781449	G	A	G31781449A	RXFP2	NM_130806.5(RXFP2):c.786-222G>A	noncoding	Benign
13	31782946	A	G	A31782946G	RXFP2	NM_130806.5(RXFP2):c.929+199A>G	noncoding	Benign
13	31786142	T	G	T31786142G	RXFP2	NM_130806.5(RXFP2):c.930-241T>G	noncoding	Benign
13	31786212	C	T	C31786212T	RXFP2	NM_130806.5(RXFP2):c.930-171C>T	noncoding	Benign
13	31786410	A	G	A31786410G	RXFP2	NM_130806.5(RXFP2):c.957A>G:p.Glu319=	coding	Benign
13	31786446	A	G	A31786446G	RXFP2	NM_130806.5(RXFP2):c.993A>G:p.Leu331=	coding	Benign
13	31789080	T	C	T31789080C	RXFP2	NM_130806.5(RXFP2):c.1074-42T>C	noncoding	Benign
13	31797224	A	G	A31797224G	RXFP2	NM_130806.5(RXFP2):c.1810A>G:p.Ile604Val	coding	Benign
13	31797514	T	C	T31797514C	RXFP2	NM_130806.5(RXFP2):c.2005+95T>C	noncoding	Benign
13	31802581	A	G	A31802581G	RXFP2	NM_130806.5(RXFP2):c.*176A>G	noncoding	Benign
13	32184697	A	G	A32184697G	FRY	NM_023037.3(FRY):c.3146+6A>G	noncoding	Benign
13	32315300	G	A	G32315300A	BRCA2	NM_001136571.2(ZAR1L):c.-390+15C>T	noncoding	Benign
13	32316418	G	T	G32316418T	BRCA2	NM_000059.4(BRCA2):c.-39-4G>T	noncoding	Benign
13	32316530	A	G	A32316530G	BRCA2	NM_000059.4(BRCA2):c.67+3A>G	noncoding	Pathogenic/Likely_pathogenic
13	32316546	T	C	T32316546C	BRCA2	NM_000059.4(BRCA2):c.67+19T>C	noncoding	Benign/Likely_benign
13	32319060	A	G	A32319060G	BRCA2	NM_000059.4(BRCA2):c.68-17A>G	noncoding	Benign/Likely_benign
13	32325054	C	T	C32325054T	BRCA2	NM_000059.4(BRCA2):c.317-22C>T	noncoding	Benign/Likely_benign
13	32325135	C	T	C32325135T	BRCA2	NM_000059.4(BRCA2):c.376C>T:p.Gln126Ter	coding	Pathogenic/Likely_pathogenic
13	32326119	T	A	T32326119A	BRCA2	NM_000059.4(BRCA2):c.444T>A:p.Cys148Ter	coding	Pathogenic
13	32326144	A	T	A32326144T	BRCA2	NM_000059.4(BRCA2):c.469A>T:p.Lys157Ter	coding	Pathogenic/Likely_pathogenic
13	32326152	T	A	T32326152A	BRCA2	NM_000059.4(BRCA2):c.475+2T>A	noncoding	Pathogenic
13	32326152	T	C	T32326152C	BRCA2	NM_000059.4(BRCA2):c.475+2T>C	noncoding	Pathogenic/Likely_pathogenic
13	32326241	G	A	G32326241A	BRCA2	NM_000059.4(BRCA2):c.476-1G>A	noncoding	Pathogenic/Likely_pathogenic
13	32326384	T	C	T32326384C	BRCA2	NM_000059.4(BRCA2):c.516+102T>C	noncoding	Benign/Likely_benign
13	32326499	G	C	G32326499C	BRCA2	NM_000059.4(BRCA2):c.517G>C:p.Gly173Arg	coding	Pathogenic/Likely_pathogenic
13	32329427	A	C	A32329427C	BRCA2	NM_000059.4(BRCA2):c.632-16A>C	noncoding	Benign/Likely_benign
13	32329496	A	G	A32329496G	BRCA2	NM_000059.4(BRCA2):c.681+4A>G	noncoding	Pathogenic/Likely_pathogenic
13	32329522	T	C	T32329522C	BRCA2	NM_000059.4(BRCA2):c.681+30T>C	noncoding	Benign/Likely_benign
13	32330961	A	T	A32330961T	BRCA2	NM_000059.4(BRCA2):c.724A>T:p.Lys242Ter	coding	Pathogenic
13	32331015	G	T	G32331015T	BRCA2	NM_000059.4(BRCA2):c.778G>T:p.Glu260Ter	coding	Pathogenic
13	32332234	A	G	A32332234G	BRCA2	NM_000059.4(BRCA2):c.794-38A>G	noncoding	Benign
13	32332315	C	T	C32332315T	BRCA2	NM_000059.4(BRCA2):c.837C>T:p.Cys279=	coding	Benign/Likely_benign
13	32332407	T	A	T32332407A	BRCA2	NM_000059.4(BRCA2):c.929T>A:p.Leu310Ter	coding	Pathogenic
13	32332481	G	T	G32332481T	BRCA2	NM_000059.4(BRCA2):c.1003G>T:p.Glu335Ter	coding	Pathogenic
13	32332496	G	T	G32332496T	BRCA2	NM_000059.4(BRCA2):c.1018G>T:p.Glu340Ter	coding	Pathogenic
13	32332619	G	A	G32332619A	BRCA2	NM_000059.4(BRCA2):c.1141G>A:p.Asp381Asn	coding	Benign/Likely_benign
13	32332634	G	T	G32332634T	BRCA2	NM_000059.4(BRCA2):c.1156G>T:p.Glu386Ter	coding	Pathogenic
13	32332706	A	T	A32332706T	BRCA2	NM_000059.4(BRCA2):c.1228A>T:p.Lys410Ter	coding	Pathogenic
13	32332973	C	T	C32332973T	BRCA2	NM_000059.4(BRCA2):c.1495C>T:p.Gln499Ter	coding	Pathogenic/Likely_pathogenic
13	32332982	A	T	A32332982T	BRCA2	NM_000059.4(BRCA2):c.1504A>T:p.Lys502Ter	coding	Pathogenic
13	32332985	A	T	A32332985T	BRCA2	NM_000059.4(BRCA2):c.1507A>T:p.Lys503Ter	coding	Pathogenic
13	32333015	A	T	A32333015T	BRCA2	NM_000059.4(BRCA2):c.1537A>T:p.Lys513Ter	coding	Pathogenic
13	32333040	C	G	C32333040G	BRCA2	NM_000059.4(BRCA2):c.1562C>G:p.Ser521Ter	coding	Pathogenic
13	32333166	G	A	G32333166A	BRCA2	NM_000059.4(BRCA2):c.1688G>A:p.Trp563Ter	coding	Pathogenic
13	32333183	C	T	C32333183T	BRCA2	NM_000059.4(BRCA2):c.1705C>T:p.Gln569Ter	coding	Pathogenic
13	32333339	G	T	G32333339T	BRCA2	NM_000059.4(BRCA2):c.1861G>T:p.Glu621Ter	coding	Pathogenic
13	32336263	A	G	A32336263G	BRCA2	NM_000059.4(BRCA2):c.1910-2A>G	noncoding	Pathogenic
13	32336263	A	T	A32336263T	BRCA2	NM_000059.4(BRCA2):c.1910-2A>T	noncoding	Pathogenic/Likely_pathogenic
13	32336368	T	C	T32336368C	BRCA2	NM_000059.4(BRCA2):c.2013T>C:p.Ser671=	coding	Benign/Likely_benign
13	32336501	C	T	C32336501T	BRCA2	NM_000059.4(BRCA2):c.2146C>T:p.Gln716Ter	coding	Pathogenic
13	32336525	A	T	A32336525T	BRCA2	NM_000059.4(BRCA2):c.2170A>T:p.Lys724Ter	coding	Pathogenic
13	32336528	A	T	A32336528T	BRCA2	NM_000059.4(BRCA2):c.2173A>T:p.Lys725Ter	coding	Pathogenic
13	32336638	T	A	T32336638A	BRCA2	NM_000059.4(BRCA2):c.2283T>A:p.Tyr761Ter	coding	Pathogenic
13	32336765	G	T	G32336765T	BRCA2	NM_000059.4(BRCA2):c.2410G>T:p.Glu804Ter	coding	Pathogenic
13	32336831	G	T	G32336831T	BRCA2	NM_000059.4(BRCA2):c.2476G>T:p.Glu826Ter	coding	Pathogenic
13	32336839	T	A	T32336839A	BRCA2	NM_000059.4(BRCA2):c.2484T>A:p.Tyr828Ter	coding	Pathogenic
13	32336840	A	T	A32336840T	BRCA2	NM_000059.4(BRCA2):c.2485A>T:p.Lys829Ter	coding	Pathogenic
13	32337077	G	T	G32337077T	BRCA2	NM_000059.4(BRCA2):c.2722G>T:p.Glu908Ter	coding	Pathogenic
13	32337110	G	T	G32337110T	BRCA2	NM_000059.4(BRCA2):c.2755G>T:p.Glu919Ter	coding	Pathogenic
13	32337164	C	T	C32337164T	BRCA2	NM_000059.4(BRCA2):c.2809C>T:p.Gln937Ter	coding	Pathogenic
13	32337393	C	G	C32337393G	BRCA2	NM_000059.4(BRCA2):c.3038C>G:p.Ser1013Ter	coding	Pathogenic
13	32337713	G	T	G32337713T	BRCA2	NM_000059.4(BRCA2):c.3358G>T:p.Glu1120Ter	coding	Pathogenic
13	32337800	A	G	A32337800G	BRCA2	NM_000059.4(BRCA2):c.3445A>G:p.Met1149Val	coding	Benign/Likely_benign
13	32337827	G	T	G32337827T	BRCA2	NM_000059.4(BRCA2):c.3472G>T:p.Glu1158Ter	coding	Pathogenic
13	32338181	G	T	G32338181T	BRCA2	NM_000059.4(BRCA2):c.3826G>T:p.Glu1276Ter	coding	Pathogenic
13	32338250	G	T	G32338250T	BRCA2	NM_000059.4(BRCA2):c.3895G>T:p.Glu1299Ter	coding	Pathogenic
13	32338412	G	T	G32338412T	BRCA2	NM_000059.4(BRCA2):c.4057G>T:p.Glu1353Ter	coding	Pathogenic
13	32338436	C	T	C32338436T	BRCA2	NM_000059.4(BRCA2):c.4081C>T:p.Gln1361Ter	coding	Pathogenic
13	32338454	A	T	A32338454T	BRCA2	NM_000059.4(BRCA2):c.4099A>T:p.Lys1367Ter	coding	Pathogenic
13	32338481	G	T	G32338481T	BRCA2	NM_000059.4(BRCA2):c.4126G>T:p.Gly1376Ter	coding	Pathogenic
13	32338499	G	T	G32338499T	BRCA2	NM_000059.4(BRCA2):c.4144G>T:p.Glu1382Ter	coding	Pathogenic
13	32338574	G	T	G32338574T	BRCA2	NM_000059.4(BRCA2):c.4219G>T:p.Glu1407Ter	coding	Pathogenic
13	32338619	G	T	G32338619T	BRCA2	NM_000059.4(BRCA2):c.4264G>T:p.Glu1422Ter	coding	Pathogenic
13	32338673	A	T	A32338673T	BRCA2	NM_000059.4(BRCA2):c.4318A>T:p.Lys1440Ter	coding	Pathogenic
13	32338829	A	T	A32338829T	BRCA2	NM_000059.4(BRCA2):c.4474A>T:p.Lys1492Ter	coding	Pathogenic/Likely_pathogenic
13	32338964	G	T	G32338964T	BRCA2	NM_000059.4(BRCA2):c.4609G>T:p.Glu1537Ter	coding	Pathogenic
13	32339025	C	G	C32339025G	BRCA2	NM_000059.4(BRCA2):c.4670C>G:p.Thr1557Ser	coding	Benign/Likely_benign
13	32339096	G	T	G32339096T	BRCA2	NM_000059.4(BRCA2):c.4741G>T:p.Glu1581Ter	coding	Pathogenic
13	32339159	A	T	A32339159T	BRCA2	NM_000059.4(BRCA2):c.4804A>T:p.Lys1602Ter	coding	Pathogenic
13	32339822	A	T	A32339822T	BRCA2	NM_000059.4(BRCA2):c.5467A>T:p.Lys1823Ter	coding	Pathogenic
13	32340229	T	A	T32340229A	BRCA2	NM_000059.4(BRCA2):c.5874T>A:p.Cys1958Ter	coding	Pathogenic
13	32340235	T	A	T32340235A	BRCA2	NM_000059.4(BRCA2):c.5880T>A:p.Cys1960Ter	coding	Pathogenic
13	32340254	A	T	A32340254T	BRCA2	NM_000059.4(BRCA2):c.5899A>T:p.Lys1967Ter	coding	Pathogenic
13	32340302	G	T	G32340302T	BRCA2	NM_000059.4(BRCA2):c.5947G>T:p.Gly1983Ter	coding	Pathogenic
13	32340717	A	G	A32340717G	BRCA2	NM_000059.4(BRCA2):c.6362A>G:p.Glu2121Gly	coding	Benign/Likely_benign
13	32340762	T	G	T32340762G	BRCA2	NM_000059.4(BRCA2):c.6407T>G:p.Leu2136Ter	coding	Pathogenic
13	32341061	G	T	G32341061T	BRCA2	NM_000059.4(BRCA2):c.6706G>T:p.Glu2236Ter	coding	Pathogenic
13	32344539	A	G	A32344539G	BRCA2	NM_000059.4(BRCA2):c.6842-19A>G	noncoding	Benign/Likely_benign
13	32344636	C	A	C32344636A	BRCA2	NM_000059.4(BRCA2):c.6920C>A:p.Ser2307Ter	coding	Pathogenic
13	32346801	T	C	T32346801C	BRCA2	NM_000059.4(BRCA2):c.6938-26T>C	noncoding	Benign/Likely_benign
13	32346914	T	A	T32346914A	BRCA2	NM_000059.4(BRCA2):c.7007+18T>A	noncoding	Benign/Likely_benign
13	32354871	G	T	G32354871T	BRCA2	NM_000059.4(BRCA2):c.7018G>T:p.Glu2340Ter	coding	Pathogenic
13	32354942	T	G	T32354942G	BRCA2	NM_000059.4(BRCA2):c.7089T>G:p.Tyr2363Ter	coding	Pathogenic
13	32355003	C	T	C32355003T	BRCA2	NM_000059.4(BRCA2):c.7150C>T:p.Gln2384Ter	coding	Pathogenic
13	32355105	A	T	A32355105T	BRCA2	NM_000059.4(BRCA2):c.7252A>T:p.Arg2418Ter	coding	Pathogenic
13	32355276	G	T	G32355276T	BRCA2	NM_000059.4(BRCA2):c.7423G>T:p.Glu2475Ter	coding	Pathogenic/Likely_pathogenic
13	32356521	T	C	T32356521C	BRCA2	NM_000059.4(BRCA2):c.7529T>C:p.Leu2510Pro	coding	Pathogenic/Likely_pathogenic
13	32357721	G	T	G32357721T	BRCA2	NM_000059.4(BRCA2):c.7618-21G>T	noncoding	Benign
13	32357747	T	G	T32357747G	BRCA2	NM_000059.4(BRCA2):c.7623T>G:p.Tyr2541Ter	coding	Pathogenic
13	32357850	G	T	G32357850T	BRCA2	NM_000059.4(BRCA2):c.7726G>T:p.Gly2576Ter	coding	Pathogenic
13	32357853	A	T	A32357853T	BRCA2	NM_000059.4(BRCA2):c.7729A>T:p.Lys2577Ter	coding	Pathogenic
13	32357855	A	T	A32357855T	BRCA2	NM_000059.4(BRCA2):c.7731A>T:p.Lys2577Asn	coding	Benign
13	32357942	A	G	A32357942G	BRCA2	NM_000059.4(BRCA2):c.7805+13A>G	noncoding	Benign/Likely_benign
13	32357952	G	A	G32357952A	BRCA2	NM_000059.4(BRCA2):c.7805+23G>A	noncoding	Benign/Likely_benign
13	32362585	A	G	A32362585G	BRCA2	NM_000059.4(BRCA2):c.7868A>G:p.His2623Arg	coding	Pathogenic/Likely_pathogenic
13	32362657	T	C	T32362657C	BRCA2	NM_000059.4(BRCA2):c.7940T>C:p.Leu2647Pro	coding	Pathogenic/Likely_pathogenic
13	32363229	T	C	T32363229C	BRCA2	NM_000059.4(BRCA2):c.8027T>C:p.Met2676Thr	coding	Benign/Likely_benign
13	32363259	T	C	T32363259C	BRCA2	NM_000059.4(BRCA2):c.8057T>C:p.Leu2686Pro	coding	Pathogenic/Likely_pathogenic
13	32363379	A	G	A32363379G	BRCA2	NM_000059.4(BRCA2):c.8177A>G:p.Tyr2726Cys	coding	Pathogenic/Likely_pathogenic
13	32363380	T	C	T32363380C	BRCA2	NM_000059.4(BRCA2):c.8178T>C:p.Tyr2726=	coding	Benign/Likely_benign
13	32370507	G	T	G32370507T	BRCA2	NM_000059.4(BRCA2):c.8437G>T:p.Gly2813Ter	coding	Pathogenic
13	32370560	A	G	A32370560G	BRCA2	NM_000059.4(BRCA2):c.8487+3A>G	noncoding	Pathogenic/Likely_pathogenic
13	32370565	G	A	G32370565A	BRCA2	NM_000059.4(BRCA2):c.8487+8G>A	noncoding	Benign/Likely_benign
13	32370937	G	A	G32370937A	BRCA2	NM_000059.4(BRCA2):c.8488-19G>A	noncoding	Benign/Likely_benign
13	32371082	G	T	G32371082T	BRCA2	NM_000059.4(BRCA2):c.8614G>T:p.Glu2872Ter	coding	Pathogenic
13	32371102	T	C	T32371102C	BRCA2	NM_000059.4(BRCA2):c.8632+2T>C	noncoding	Pathogenic
13	32376752	T	G	T32376752G	BRCA2	NM_000059.4(BRCA2):c.8715T>G:p.Tyr2905Ter	coding	Pathogenic
13	32376785	C	A	C32376785A	BRCA2	NM_000059.4(BRCA2):c.8748C>A:p.Tyr2916Ter	coding	Pathogenic
13	32379315	A	T	A32379315T	BRCA2	NM_000059.4(BRCA2):c.8755-2A>T	noncoding	Pathogenic/Likely_pathogenic
13	32379369	T	A	T32379369A	BRCA2	NM_000059.4(BRCA2):c.8807T>A:p.Leu2936Ter	coding	Pathogenic
13	32379389	C	T	C32379389T	BRCA2	NM_000059.4(BRCA2):c.8827C>T:p.Gln2943Ter	coding	Pathogenic
13	32379412	G	C	G32379412C	BRCA2	NM_000059.4(BRCA2):c.8850G>C:p.Lys2950Asn	coding	Benign/Likely_benign
13	32379419	G	T	G32379419T	BRCA2	NM_000059.4(BRCA2):c.8857G>T:p.Glu2953Ter	coding	Pathogenic
13	32379745	A	G	A32379745G	BRCA2	NM_000059.4(BRCA2):c.8954-5A>G	noncoding	Pathogenic/Likely_pathogenic
13	32379768	G	A	G32379768A	BRCA2	NM_000059.4(BRCA2):c.8972G>A:p.Arg2991His	coding	Benign/Likely_benign
13	32379857	G	T	G32379857T	BRCA2	NM_000059.4(BRCA2):c.9061G>T:p.Glu3021Ter	coding	Pathogenic
13	32380115	G	T	G32380115T	BRCA2	NM_000059.4(BRCA2):c.9226G>T:p.Gly3076Ter	coding	Pathogenic
13	32380116	G	T	G32380116T	BRCA2	NM_000059.4(BRCA2):c.9227G>T:p.Gly3076Val	coding	Pathogenic/Likely_pathogenic
13	32394671	C	A	C32394671A	BRCA2	NM_000059.4(BRCA2):c.9257-18C>A	noncoding	Benign/Likely_benign
13	32394681	C	T	C32394681T	BRCA2	NM_000059.4(BRCA2):c.9257-8C>T	noncoding	Benign/Likely_benign
13	32394919	A	T	A32394919T	BRCA2	NM_000059.4(BRCA2):c.9487A>T:p.Lys3163Ter	coding	Pathogenic
13	32397012	C	T	C32397012T	BRCA2	NM_000059.4(BRCA2):c.9616C>T:p.Gln3206Ter	coding	Pathogenic
13	32398212	T	A	T32398212A	BRCA2	NM_000059.4(BRCA2):c.9699T>A:p.Cys3233Ter	coding	Pathogenic
13	32398624	A	G	A32398624G	BRCA2	NM_000059.4(BRCA2):c.10111A>G:p.Thr3371Ala	coding	Benign/Likely_benign
13	33016276	G	A	G33016276A	KL	Single_allele	noncoding	Benign
13	33016827	C	T	C33016827T	KL	NM_004795.4(KL):c.387C>T:p.Tyr129=	coding	Benign/Likely_benign
13	33016926	G	A	G33016926A	KL	NM_004795.4(KL):c.486G>A:p.Ala162=	coding	Benign
13	33016977	G	C	G33016977C	KL	NM_004795.4(KL):c.537G>C:p.Arg179=	coding	Benign
13	33017035	C	T	C33017035T	KL	NM_004795.4(KL):c.595C>T:p.Arg199Cys	coding	Benign/Likely_benign
13	33053531	C	T	C33053531T	KL	NM_004795.4(KL):c.820-236C>T	noncoding	Benign
13	33053556	G	A	G33053556A	KL	NM_004795.4(KL):c.820-211G>A	noncoding	Benign
13	33053623	A	G	A33053623G	KL	NM_004795.4(KL):c.820-144A>G	noncoding	Benign
13	33053688	C	T	C33053688T	KL	NM_004795.4(KL):c.820-79C>T	noncoding	Benign
13	33053692	T	G	T33053692G	KL	NM_004795.4(KL):c.820-75T>G	noncoding	Benign
13	33053721	C	G	C33053721G	KL	NM_004795.4(KL):c.820-46C>G	noncoding	Benign
13	33054420	T	G	T33054420G	KL	NM_004795.4(KL):c.1330+143T>G	noncoding	Benign
13	33054852	A	G	A33054852G	KL	NM_004795.4(KL):c.1331-195A>G	noncoding	Benign
13	33055008	G	A	G33055008A	KL	NM_004795.4(KL):c.1331-39G>A	noncoding	Benign
13	33055087	A	C	A33055087C	KL	NM_004795.4(KL):c.1371A>C:p.Ala457=	coding	Benign
13	33055520	C	T	C33055520T	KL	NM_004795.4(KL):c.1599+205C>T	noncoding	Benign
13	33061044	C	T	C33061044T	KL	NM_004795.4(KL):c.1965C>T:p.Gly655=	coding	Benign
13	33061375	G	A	G33061375A	KL	NM_004795.4(KL):c.2296G>A:p.Gly766Ser	coding	Benign/Likely_benign
13	33061611	G	A	G33061611A	KL	NM_004795.4(KL):c.2532G>A:p.Gln844=	coding	Benign/Likely_benign
13	33061802	T	A	T33061802A	KL	NM_004795.4(KL):c.2701+22T>A	noncoding	Benign
13	35056043	C	T	C35056043T	NBEA	NM_001385012.1(NBEA):c.1006C>T:p.Arg336Ter	coding	Pathogenic
13	35056072	T	G	T35056072G	NBEA	NM_001385012.1(NBEA):c.1035T>G:p.Tyr345Ter	coding	Pathogenic
13	35157077	G	C	G35157077C	NBEA	NM_001385012.1(NBEA):c.2652-1G>C	noncoding	Pathogenic
13	35161839	A	G	A35161839G	NBEA	NM_001385012.1(NBEA):c.3951A>G:p.Arg1317=	coding	Benign
13	35161882	C	T	C35161882T	NBEA	NM_001385012.1(NBEA):c.3994C>T:p.Pro1332Ser	coding	Pathogenic
13	35211180	G	A	G35211180A	NBEA	NM_001385012.1(NBEA):c.5648+1G>A	coding	Pathogenic
13	35232491	G	A	G35232491A	NBEA	NM_001385012.1(NBEA):c.5649-1G>A	noncoding	Pathogenic
13	35452100	G	T	G35452100T	NBEA	NM_001385012.1(NBEA):c.6313G>T:p.Glu2105Ter	coding	Pathogenic
13	35555009	C	T	C35555009T	NBEA	NM_001385012.1(NBEA):c.6829C>T:p.Arg2277Ter	coding	Pathogenic
13	35628132	A	G	A35628132G	NBEA	NM_001385012.1(NBEA):c.7501A>G:p.Ile2501Val	coding	Benign
13	35646345	C	T	C35646345T	NBEA	NM_001385012.1(NBEA):c.7767C>T:p.His2589=	coding	Benign/Likely_benign
13	35651792	T	C	T35651792C	NBEA	NM_001385012.1(NBEA):c.7964-13T>C	noncoding	Benign
13	35655736	C	T	C35655736T	NBEA	NM_001385012.1(NBEA):c.8349C>T:p.Asp2783=	coding	Benign
13	35665135	G	T	G35665135T	NBEA	NM_001385012.1(NBEA):c.8413G>T:p.Val2805Phe	coding	Benign
13	35665186	G	A	G35665186A	NBEA	NM_001385012.1(NBEA):c.8464G>A:p.Glu2822Lys	coding	Pathogenic
13	36312033	C	G	C36312033G	SPART	NM_015087.5(SPART):c.1733+112G>C	noncoding	Benign
13	36326363	G	A	G36326363A	SPART	NM_015087.5(SPART):c.1288+212C>T	noncoding	Benign
13	36326559	A	G	A36326559G	SPART	NM_015087.5(SPART):c.1288+16T>C	noncoding	Benign
13	36329361	C	T	C36329361T	SPART	NM_015087.5(SPART):c.1164+1G>A	noncoding	Pathogenic
13	36331419	T	C	T36331419C	SPART	NM_015087.5(SPART):c.988A>G:p.Met330Val	coding	Pathogenic
13	36336114	T	C	T36336114C	SPART	NM_015087.5(SPART):c.-2-282A>G	noncoding	Benign
13	36336606	A	G	A36336606G	SPART	NM_015087.5(SPART):c.-2-774T>C	noncoding	Benign
13	36346010	A	G	A36346010G	SPART	NM_015087.5(SPART):c.-3+215T>C	noncoding	Benign
13	36346367	C	T	C36346367T	SPART	NM_015087.5(SPART):c.-145G>A	noncoding	Benign/Likely_benign
13	36346475	C	T	C36346475T	SPART	NM_015087.4(SPART):c.-253G>A	noncoding	Benign/Likely_benign
13	36346781	C	G	C36346781G	SPART	NM_001142295.1(SPART):c.-202G>C	noncoding	Benign
13	36370137	C	T	C36370137T	SPART	NM_001142294.2(SPART):c.-51G>A	noncoding	Benign
13	36848378	T	C	T36848378C	SMAD9	NM_001127217.3(SMAD9):c.*298A>G	noncoding	Benign
13	36848476	T	G	T36848476G	SMAD9	NM_001127217.3(SMAD9):c.*200A>C	noncoding	Benign
13	36848629	C	T	C36848629T	SMAD9	NM_001127217.3(SMAD9):c.*47G>A	noncoding	Benign
13	36853683	C	T	C36853683T	SMAD9	NM_001127217.3(SMAD9):c.1004-8G>A	noncoding	Benign
13	36865924	T	C	T36865924C	SMAD9	NM_001127217.3(SMAD9):c.782-166A>G	noncoding	Benign
13	36865932	C	T	C36865932T	SMAD9	NM_001127217.3(SMAD9):c.782-174G>A	noncoding	Benign
13	36866015	T	C	T36866015C	SMAD9	NM_001127217.3(SMAD9):c.782-257A>G	noncoding	Benign
13	36872574	G	T	G36872574T	SMAD9	NM_001127217.3(SMAD9):c.670+84C>A	noncoding	Benign
13	36879911	G	A	G36879911A	SMAD9	NM_001127217.3(SMAD9):c.-186-36C>T	noncoding	Benign
13	36965575	C	T	C36965575T	ALG5	NM_013338.5(ALG5):c.773G>A:p.Trp258Ter	coding	Pathogenic
13	36965713	C	T	C36965713T	ALG5	NM_013338.5(ALG5):c.635G>A:p.Arg212His	coding	Pathogenic
13	36965725	C	T	C36965725T	ALG5	NM_013338.5(ALG5):c.623G>A:p.Arg208His	coding	Pathogenic
13	37000341	T	C	T37000341C	EXOSC8	Single_allele	noncoding	Benign
13	37000544	C	T	C37000544T	EXOSC8	Single_allele	noncoding	Benign
13	37000571	G	A	G37000571A	EXOSC8	Single_allele	noncoding	Benign
13	37000577	C	T	C37000577T	EXOSC8	Single_allele	noncoding	Benign
13	37004433	A	C	A37004433C	EXOSC8	NM_181503.3(EXOSC8):c.193-83A>C	noncoding	Benign
13	37005950	C	G	C37005950G	EXOSC8	NM_181503.3(EXOSC8):c.269C>G:p.Ser90Ter	coding	Pathogenic
13	37006914	T	G	T37006914G	EXOSC8	NM_181503.3(EXOSC8):c.391-61T>G	noncoding	Benign
13	38349946	A	T	A38349946T	UFM1	NM_016617.4(UFM1):c.2+25A>T	noncoding	Benign
13	38350126	T	C	T38350126C	UFM1	NM_016617.4(UFM1):c.59+71T>C	coding	Benign
13	38358073	T	A	T38358073A	UFM1	NM_016617.4(UFM1):c.118-20T>A	noncoding	Benign
13	38686756	C	T	C38686756T	FREM2	Single_allele	noncoding	Benign
13	38686785	T	C	T38686785C	FREM2	Single_allele	noncoding	Benign
13	38686910	C	T	C38686910T	FREM2	Single_allele	noncoding	Benign
13	38687014	T	G	T38687014G	FREM2	Single_allele	noncoding	Benign
13	38689647	C	G	C38689647G	FREM2	NM_207361.6(FREM2):c.2303C>G:p.Ser768Ter	coding	Pathogenic
13	38691740	C	T	C38691740T	FREM2	NM_207361.6(FREM2):c.4396C>T:p.Arg1466Ter	coding	Pathogenic
13	38692482	A	G	A38692482G	FREM2	NM_207361.6(FREM2):c.5138A>G:p.Asp1713Gly	coding	Benign/Likely_benign
13	38692592	A	T	A38692592T	FREM2	NM_207361.6(FREM2):c.5173+75A>T	noncoding	Benign
13	38692725	T	C	T38692725C	FREM2	NM_207361.6(FREM2):c.5173+208T>C	noncoding	Benign
13	38697941	C	G	C38697941G	FREM2	NM_207361.6(FREM2):c.5263+154C>G	noncoding	Benign
13	38764285	T	G	T38764285G	FREM2	NM_207361.6(FREM2):c.5264-19T>G	noncoding	Benign
13	38764475	T	C	T38764475C	FREM2	NM_207361.6(FREM2):c.5410+25T>C	noncoding	Benign
13	38769249	T	C	T38769249C	FREM2	NM_207361.6(FREM2):c.5411-329T>C	noncoding	Benign
13	38769340	T	G	T38769340G	FREM2	NM_207361.6(FREM2):c.5411-238T>G	noncoding	Benign
13	38770064	T	C	T38770064C	FREM2	NM_207361.6(FREM2):c.5641+256T>C	noncoding	Benign
13	38783051	A	G	A38783051G	FREM2	NM_207361.6(FREM2):c.5642-19A>G	noncoding	Benign
13	38783058	T	C	T38783058C	FREM2	NM_207361.6(FREM2):c.5642-12T>C	noncoding	Benign/Likely_benign
13	38784372	T	C	T38784372C	FREM2	NM_207361.6(FREM2):c.5768-185T>C	noncoding	Benign
13	38846314	T	C	T38846314C	FREM2	NM_207361.6(FREM2):c.6020-259T>C	noncoding	Benign
13	38846383	C	T	C38846383T	FREM2	NM_207361.6(FREM2):c.6020-190C>T	noncoding	Benign
13	38846424	A	G	A38846424G	FREM2	NM_207361.6(FREM2):c.6020-149A>G	noncoding	Benign
13	38846462	G	A	G38846462A	FREM2	NM_207361.6(FREM2):c.6020-111G>A	noncoding	Benign
13	38846526	T	C	T38846526C	FREM2	NM_207361.6(FREM2):c.6020-47T>C	noncoding	Benign
13	38846786	T	G	T38846786G	FREM2	NM_207361.6(FREM2):c.6169+64T>G	noncoding	Benign
13	38846834	A	G	A38846834G	FREM2	NM_207361.6(FREM2):c.6169+112A>G	noncoding	Benign
13	38846959	G	A	G38846959A	FREM2	NM_207361.6(FREM2):c.6169+237G>A	noncoding	Benign
13	38847038	A	G	A38847038G	FREM2	NM_207361.6(FREM2):c.6169+316A>G	noncoding	Benign
13	38850710	C	T	C38850710T	FREM2	NM_207361.6(FREM2):c.6578-234C>T	noncoding	Benign
13	38850741	G	A	G38850741A	FREM2	NM_207361.6(FREM2):c.6578-203G>A	noncoding	Benign
13	38851368	C	T	C38851368T	FREM2	NM_207361.6(FREM2):c.6742+260C>T	noncoding	Benign
13	38856306	G	A	G38856306A	FREM2	NM_207361.6(FREM2):c.7056+50G>A	noncoding	Benign
13	38856442	T	C	T38856442C	FREM2	NM_207361.6(FREM2):c.7056+186T>C	noncoding	Benign
13	38857808	T	C	T38857808C	FREM2	NM_207361.6(FREM2):c.7057-67T>C	noncoding	Benign
13	38858987	C	G	C38858987G	FREM2	NM_207361.6(FREM2):c.7216-300C>G	noncoding	Benign
13	38858992	G	A	G38858992A	FREM2	NM_207361.6(FREM2):c.7216-295G>A	noncoding	Benign
13	38859652	A	G	A38859652G	FREM2	NM_207361.6(FREM2):c.7519+62A>G	noncoding	Benign
13	38859676	A	G	A38859676G	FREM2	NM_207361.6(FREM2):c.7519+86A>G	noncoding	Benign
13	38861288	G	A	G38861288A	FREM2	NM_207361.6(FREM2):c.7520-143G>A	noncoding	Benign
13	38861381	A	G	A38861381G	FREM2	NM_207361.6(FREM2):c.7520-50A>G	noncoding	Benign
13	38861746	G	A	G38861746A	FREM2	NM_207361.6(FREM2):c.7651+184G>A	noncoding	Benign
13	38864246	C	A	C38864246A	FREM2	NM_207361.6(FREM2):c.7652-29C>A	noncoding	Benign
13	38872858	T	G	T38872858G	FREM2	NM_207361.6(FREM2):c.8100T>G:p.Leu2700=	coding	Benign/Likely_benign
13	38874207	A	G	A38874207G	FREM2	NM_207361.6(FREM2):c.8177-275A>G	noncoding	Benign
13	38874318	A	G	A38874318G	FREM2	NM_207361.6(FREM2):c.8177-164A>G	noncoding	Benign
13	38874339	T	C	T38874339C	FREM2	NM_207361.6(FREM2):c.8177-143T>C	noncoding	Benign
13	38876002	A	C	A38876002C	FREM2	NM_207361.6(FREM2):c.8282-20A>C	noncoding	Benign
13	38876936	T	C	T38876936C	FREM2	NM_207361.6(FREM2):c.8545-181T>C	noncoding	Benign
13	38877420	A	T	A38877420T	FREM2	NM_207361.6(FREM2):c.8671+177A>T	noncoding	Benign
13	38877887	T	C	T38877887C	FREM2	NM_207361.6(FREM2):c.8672-247T>C	noncoding	Benign
13	38878098	T	C	T38878098C	FREM2	NM_207361.6(FREM2):c.8672-36T>C	noncoding	Benign
13	38878663	C	T	C38878663T	FREM2	NM_207361.6(FREM2):c.8860-168C>T	noncoding	Benign
13	38878797	C	T	C38878797T	FREM2	NM_207361.6(FREM2):c.8860-34C>T	noncoding	Benign
13	38879136	A	G	A38879136G	FREM2	NM_207361.6(FREM2):c.9006+159A>G	noncoding	Benign
13	39655283	C	T	C39655283T	COG6	Single_allele	noncoding	Benign
13	39655431	A	T	A39655431T	COG6	Single_allele	noncoding	Benign
13	39655448	C	T	C39655448T	COG6	Single_allele	noncoding	Benign
13	39655587	A	G	A39655587G	COG6	Single_allele	noncoding	Benign
13	39655607	C	T	C39655607T	COG6	Single_allele	noncoding	Benign
13	39655898	G	A	G39655898A	COG6	NM_020751.3(COG6):c.153+19G>A	noncoding	Benign/Likely_benign
13	39655906	C	T	C39655906T	COG6	NM_020751.3(COG6):c.153+27C>T	noncoding	Benign
13	39655929	C	T	C39655929T	COG6	NM_020751.3(COG6):c.153+50C>T	noncoding	Benign
13	39655985	A	C	A39655985C	COG6	NM_020751.3(COG6):c.153+106A>C	noncoding	Benign
13	39656079	G	A	G39656079A	COG6	NM_020751.3(COG6):c.153+200G>A	noncoding	Benign
13	39656092	C	T	C39656092T	COG6	NM_020751.3(COG6):c.153+213C>T	noncoding	Benign
13	39656157	T	C	T39656157C	COG6	NM_020751.3(COG6):c.153+278T>C	noncoding	Benign
13	39659157	T	G	T39659157G	COG6	NM_020751.3(COG6):c.154-207T>G	noncoding	Benign
13	39659267	T	C	T39659267C	COG6	NM_020751.3(COG6):c.154-97T>C	noncoding	Benign
13	39659554	C	T	C39659554T	COG6	NM_020751.3(COG6):c.297+47C>T	noncoding	Benign
13	39659829	C	A	C39659829A	COG6	NM_020751.3(COG6):c.297+322C>A	noncoding	Benign
13	39661048	A	G	A39661048G	COG6	NM_020751.3(COG6):c.369+167A>G	noncoding	Benign
13	39664866	A	T	A39664866T	COG6	NM_020751.3(COG6):c.370-230A>T	noncoding	Benign
13	39664907	T	G	T39664907G	COG6	NM_020751.3(COG6):c.370-189T>G	noncoding	Benign
13	39665002	G	A	G39665002A	COG6	NM_020751.3(COG6):c.370-94G>A	noncoding	Benign
13	39665386	T	C	T39665386C	COG6	NM_020751.3(COG6):c.428+232T>C	noncoding	Benign
13	39677285	A	G	A39677285G	COG6	NM_020751.3(COG6):c.429-183A>G	noncoding	Benign
13	39677714	A	T	A39677714T	COG6	NM_020751.3(COG6):c.540+135A>T	noncoding	Benign
13	39677893	A	G	A39677893G	COG6	NM_020751.3(COG6):c.540+314A>G	noncoding	Benign
13	39679764	A	G	A39679764G	COG6	NM_020751.3(COG6):c.623+144A>G	noncoding	Benign
13	39680253	C	T	C39680253T	COG6	NM_020751.3(COG6):c.694+208C>T	noncoding	Benign
13	39682115	C	T	C39682115T	COG6	NM_020751.3(COG6):c.695-56C>T	noncoding	Benign
13	39682129	A	C	A39682129C	COG6	NM_020751.3(COG6):c.695-42A>C	noncoding	Benign
13	39682346	G	A	G39682346A	COG6	NM_020751.3(COG6):c.788+82G>A	noncoding	Benign
13	39682450	A	G	A39682450G	COG6	NM_020751.3(COG6):c.788+186A>G	noncoding	Benign
13	39682451	T	C	T39682451C	COG6	NM_020751.3(COG6):c.788+187T>C	noncoding	Benign
13	39682484	C	G	C39682484G	COG6	NM_020751.3(COG6):c.788+220C>G	noncoding	Benign
13	39687241	C	G	C39687241G	COG6	NM_020751.3(COG6):c.789-262C>G	noncoding	Benign
13	39687347	T	C	T39687347C	COG6	NM_020751.3(COG6):c.789-156T>C	noncoding	Benign
13	39687385	A	G	A39687385G	COG6	NM_020751.3(COG6):c.789-118A>G	noncoding	Benign
13	39687729	T	C	T39687729C	COG6	NM_020751.3(COG6):c.939T>C:p.Ala313=	coding	Benign
13	39689929	T	C	T39689929C	COG6	NM_020751.3(COG6):c.1074+105T>C	noncoding	Benign
13	39694548	T	C	T39694548C	COG6	NM_020751.3(COG6):c.1075-86T>C	noncoding	Benign
13	39694793	A	G	A39694793G	COG6	NM_020751.3(COG6):c.1166+68A>G	noncoding	Benign
13	39694961	A	G	A39694961G	COG6	NM_020751.3(COG6):c.1166+236A>G	noncoding	Benign
13	39694965	A	G	A39694965G	COG6	NM_020751.3(COG6):c.1166+240A>G	noncoding	Benign
13	39719549	C	T	C39719549T	COG6	NM_020751.3(COG6):c.1417-111C>T	noncoding	Benign
13	39723477	A	G	A39723477G	COG6	NM_020751.3(COG6):c.1692+37A>G	noncoding	Benign
13	39723547	C	T	C39723547T	COG6	NM_020751.3(COG6):c.1692+107C>T	noncoding	Benign
13	39723660	T	C	T39723660C	COG6	NM_020751.3(COG6):c.1692+220T>C	noncoding	Benign
13	39724484	T	C	T39724484C	COG6	NM_020751.3(COG6):c.1693-24T>C	noncoding	Benign
13	39724485	T	C	T39724485C	COG6	NM_020751.3(COG6):c.1693-23T>C	noncoding	Benign
13	39724486	T	C	T39724486C	COG6	NM_020751.3(COG6):c.1693-22T>C	noncoding	Benign
13	39724668	C	T	C39724668T	COG6	NM_020751.3(COG6):c.1746+107C>T	noncoding	Benign
13	39727626	T	A	T39727626A	COG6	NM_020751.3(COG6):c.1826+78T>A	noncoding	Benign
13	39788092	A	C	A39788092C	COG6	NM_001145079.2(COG6):c.1827-243A>C	noncoding	Benign
13	40557795	C	T	C40557795T	FOXO1	NM_002015.4(FOXO1):c.*1254G>A	noncoding	Benign
13	40789474	G	C	G40789474C	SLC25A15	NM_014252.3(SLC25A15):c.-259G>C	noncoding	Benign/Likely_benign
13	40793160	A	T	A40793160T	SLC25A15	NM_014252.4(SLC25A15):c.-67A>T	noncoding	Benign/Likely_benign
13	40798824	G	A	G40798824A	SLC25A15	NM_014252.4(SLC25A15):c.56-233G>A	coding	Benign
13	40799237	C	G	C40799237G	SLC25A15	NM_014252.4(SLC25A15):c.236C>G:p.Ser79Ter	coding	Pathogenic
13	40799337	T	C	T40799337C	SLC25A15	NM_014252.4(SLC25A15):c.314+22T>C	coding	Benign
13	40808487	G	A	G40808487A	SLC25A15	NM_014252.4(SLC25A15):c.672G>A:p.Trp224Ter	coding	Pathogenic
13	40808498	A	T	A40808498T	SLC25A15	NM_014252.4(SLC25A15):c.683A>T:p.Tyr228Phe	coding	Benign
13	42573888	T	C	T42573888C	TNFSF11	NM_033012.4(TNFSF11):c.-1+2150T>C	noncoding	Benign
13	42574410	C	G	C42574410G	TNFSF11	NM_003701.4(TNFSF11):c.107C>G:p.Pro36Arg	coding	Benign/Likely_benign
13	42574538	C	T	C42574538T	TNFSF11	NM_003701.4(TNFSF11):c.219+16C>T	noncoding	Benign
13	42580823	T	G	T42580823G	TNFSF11	NM_003701.4(TNFSF11):c.220-303T>G	noncoding	Benign
13	42581032	G	A	G42581032A	TNFSF11	NM_003701.4(TNFSF11):c.220-94G>A	noncoding	Benign
13	43883789	A	G	A43883789G	CCDC122;LACC1	NM_153218.4(LACC1):c.760A>G:p.Ile254Val	coding	Benign
13	43883879	T	C	T43883879C	LACC1	NM_153218.4(LACC1):c.850T>C:p.Cys284Arg	coding	Pathogenic/Likely_pathogenic
13	46146960	G	T	G46146960T	LCP1	NM_002298.5(LCP1):c.1122C>A:p.Tyr374Ter	coding	Pathogenic
13	46837850	A	G	A46837850G	HTR2A	NM_000621.5(HTR2A):c.614-2211T>C	noncoding	Benign
13	47949734	C	A	C47949734A	SUCLA2	NM_003850.3(SUCLA2):c.1108-131G>T	noncoding	Benign
13	47954043	A	G	A47954043G	SUCLA2	NM_003850.3(SUCLA2):c.1107+97T>C	noncoding	Benign
13	47954549	T	C	T47954549C	SUCLA2	NM_003850.3(SUCLA2):c.811A>G:p.Met271Val	coding	Benign/Likely_benign
13	47954843	A	G	A47954843G	SUCLA2	NM_003850.3(SUCLA2):c.803-286T>C	noncoding	Benign
13	47973256	C	A	C47973256A	SUCLA2	NM_003850.3(SUCLA2):c.663+8G>T	noncoding	Benign/Likely_benign
13	47988597	G	A	G47988597A	SUCLA2	NM_003850.3(SUCLA2):c.478C>T:p.Arg160Ter	coding	Pathogenic
13	47988881	C	G	C47988881G	SUCLA2	NM_003850.3(SUCLA2):c.371+1G>C	noncoding	Pathogenic
13	47996822	A	C	A47996822C	SUCLA2	NM_003850.3(SUCLA2):c.271+21T>G	noncoding	Benign
13	47996966	G	A	G47996966A	SUCLA2	NM_003850.3(SUCLA2):c.148C>T:p.Gln50Ter	coding	Pathogenic
13	47997078	C	T	C47997078T	SUCLA2	NM_003850.3(SUCLA2):c.91-55G>A	noncoding	Benign
13	48000974	C	A	C48000974A	SUCLA2	NM_003850.3(SUCLA2):c.90+206G>T	noncoding	Benign
13	48001104	C	G	C48001104G	SUCLA2	NM_003850.3(SUCLA2):c.90+76G>C	noncoding	Benign
13	48001156	C	T	C48001156T	SUCLA2	NM_003850.3(SUCLA2):c.90+24G>A	noncoding	Benign
13	48233441	C	T	C48233441T	ITM2B	NM_021999.5(ITM2B):c.81C>T:p.Leu27=	coding	Benign
13	48233448	C	T	C48233448T	ITM2B	NM_021999.5(ITM2B):c.88C>T:p.Pro30Ser	coding	Benign
13	48253930	A	T	A48253930T	ITM2B	NM_021999.5(ITM2B):c.240A>T:p.Ala80=	coding	Benign
13	48261200	C	T	C48261200T	ITM2B	NM_021999.5(ITM2B):c.777C>T:p.Ala259=	coding	Benign
13	48303967	G	T	G48303967T	RB1	NM_000321.3(RB1):c.55G>T:p.Glu19Ter	coding	Pathogenic
13	48303995	C	G	C48303995G	RB1	NM_000321.3(RB1):c.83C>G:p.Pro28Arg	coding	Benign/Likely_benign
13	48304012	G	T	G48304012T	RB1	NM_000321.3(RB1):c.100G>T:p.Glu34Ter	coding	Pathogenic
13	48304030	G	T	G48304030T	RB1	NM_000321.3(RB1):c.118G>T:p.Glu40Ter	coding	Pathogenic
13	48304049	G	A	G48304049A	RB1	NM_000321.3(RB1):c.137G>A:p.Arg46Lys	coding	Pathogenic
13	48304135	T	C	T48304135C	RB1	NM_000321.3(RB1):c.137+86T>C	noncoding	Benign
13	48304156	G	A	G48304156A	RB1	NM_000321.3(RB1):c.137+107G>A	noncoding	Benign
13	48307018	G	C	G48307018C	RB1	NM_000321.3(RB1):c.138-262G>C	noncoding	Benign
13	48307297	C	T	C48307297T	RB1	NM_000321.3(RB1):c.155C>T:p.Thr52Ile	coding	Benign/Likely_benign
13	48307302	G	T	G48307302T	RB1	NM_000321.3(RB1):c.160G>T:p.Glu54Ter	coding	Pathogenic
13	48307326	C	T	C48307326T	RB1	NM_000321.3(RB1):c.184C>T:p.Gln62Ter	coding	Pathogenic
13	48307333	T	G	T48307333G	RB1	NM_000321.3(RB1):c.191T>G:p.Leu64Ter	coding	Pathogenic
13	48307376	G	A	G48307376A	RB1	NM_000321.3(RB1):c.234G>A:p.Trp78Ter	coding	Pathogenic
13	48307481	T	C	T48307481C	RB1	NM_000321.3(RB1):c.264+75T>C	noncoding	Benign
13	48307689	T	C	T48307689C	RB1	NM_000321.3(RB1):c.264+283T>C	noncoding	Benign
13	48342668	G	T	G48342668T	RB1	NM_000321.3(RB1):c.334G>T:p.Glu112Ter	coding	Pathogenic
13	48342676	G	A	G48342676A	RB1	NM_000321.3(RB1):c.342G>A:p.Ser114=	coding	Benign/Likely_benign
13	48342707	G	T	G48342707T	RB1	NM_000321.3(RB1):c.373G>T:p.Glu125Ter	coding	Pathogenic/Likely_pathogenic
13	48344928	A	G	A48344928G	RB1	NM_000321.3(RB1):c.381-152A>G	noncoding	Benign
13	48345184	T	A	T48345184A	RB1	NM_000321.3(RB1):c.485T>A:p.Phe162Tyr	coding	Benign/Likely_benign
13	48345504	G	T	G48345504T	RB1	NM_000321.3(RB1):c.500+305G>T	noncoding	Benign
13	48347748	A	G	A48347748G	RB1	NM_000321.3(RB1):c.501-77A>G	noncoding	Benign
13	48348794	T	C	T48348794C	RB1	NM_000321.3(RB1):c.540-162T>C	noncoding	Benign
13	48348942	T	C	T48348942C	RB1	NM_000321.3(RB1):c.540-14T>C	noncoding	Benign
13	48348982	T	A	T48348982A	RB1	NM_000321.3(RB1):c.566T>A:p.Leu189Ter	coding	Pathogenic
13	48349012	T	A	T48349012A	RB1	NM_000321.3(RB1):c.596T>A:p.Leu199Ter	coding	Pathogenic
13	48356448	T	C	T48356448C	RB1	NM_000321.3(RB1):c.608-3569T>C	noncoding	Benign
13	48356640	C	T	C48356640T	RB1	NM_000321.3(RB1):c.608-3377C>T	noncoding	Benign
13	48356835	C	T	C48356835T	RB1	NM_000321.3(RB1):c.608-3182C>T	noncoding	Benign
13	48360019	G	T	G48360019T	RB1	NM_000321.3(RB1):c.610G>T:p.Glu204Ter	coding	Pathogenic
13	48360028	C	T	C48360028T	RB1	NM_000321.3(RB1):c.619C>T:p.Gln207Ter	coding	Pathogenic
13	48360037	G	T	G48360037T	RB1	NM_000321.3(RB1):c.628G>T:p.Asp210Tyr	coding	Benign/Likely_benign
13	48360067	C	G	C48360067G	RB1	NM_000321.3(RB1):c.658C>G:p.Leu220Val	coding	Pathogenic
13	48360094	C	T	C48360094T	RB1	NM_000321.3(RB1):c.685C>T:p.Leu229Phe	coding	Benign
13	48360139	A	G	A48360139G	RB1	NM_000321.3(RB1):c.718+12A>G	noncoding	Benign
13	48360439	A	T	A48360439T	RB1	NM_000321.3(RB1):c.718+312A>T	noncoding	Benign
13	48362953	A	G	A48362953G	RB1	NM_000321.3(RB1):c.857A>G:p.Asp286Gly	coding	Pathogenic/Likely_pathogenic
13	48362958	G	T	G48362958T	RB1	NM_000321.3(RB1):c.861+1G>T	coding	Pathogenic
13	48363124	A	G	A48363124G	RB1	NM_000321.3(RB1):c.861+167A>G	noncoding	Benign
13	48364879	C	A	C48364879A	RB1	NM_000321.3(RB1):c.862-15C>A	noncoding	Benign/Likely_benign
13	48364893	G	C	G48364893C	RB1	NM_000321.3(RB1):c.862-1G>C	noncoding	Pathogenic
13	48364972	G	A	G48364972A	RB1	NM_000321.3(RB1):c.939+1G>A	coding	Pathogenic
13	48364972	G	C	G48364972C	RB1	NM_000321.3(RB1):c.939+1G>C	coding	Pathogenic
13	48364973	T	C	T48364973C	RB1	NM_000321.3(RB1):c.939+2T>C	noncoding	Pathogenic
13	48367473	C	A	C48367473A	RB1	NM_000321.3(RB1):c.940-21C>A	noncoding	Benign/Likely_benign
13	48367517	C	G	C48367517G	RB1	NM_000321.3(RB1):c.963C>G:p.Tyr321Ter	coding	Pathogenic
13	48367584	C	T	C48367584T	RB1	NM_000321.3(RB1):c.1030C>T:p.Gln344Ter	coding	Pathogenic
13	48367605	T	A	T48367605A	RB1	NM_000321.3(RB1):c.1049+2T>A	noncoding	Pathogenic
13	48367606	A	G	A48367606G	RB1	NM_000321.3(RB1):c.1049+3A>G	noncoding	Pathogenic
13	48367661	G	A	G48367661A	RB1	NM_000321.3(RB1):c.1049+58G>A	noncoding	Benign
13	48367873	G	A	G48367873A	RB1	NM_000321.3(RB1):c.1049+270G>A	noncoding	Benign
13	48368678	C	T	C48368678T	RB1	NM_000321.3(RB1):c.1127+74C>T	noncoding	Benign
13	48373333	G	T	G48373333T	RB1	NM_000321.3(RB1):c.1128-72G>T	noncoding	Benign
13	48373404	G	A	G48373404A	RB1	NM_000321.3(RB1):c.1128-1G>A	noncoding	Pathogenic
13	48373433	A	G	A48373433G	RB1	NM_000321.3(RB1):c.1156A>G:p.Met386Val	coding	Benign/Likely_benign
13	48373712	G	A	G48373712A	RB1	NM_000321.3(RB1):c.1215+220G>A	noncoding	Benign
13	48376688	G	T	G48376688T	RB1	NM_000321.3(RB1):c.1216-230G>T	noncoding	Benign
13	48376939	G	T	G48376939T	RB1	NM_000321.3(RB1):c.1237G>T:p.Glu413Ter	coding	Pathogenic
13	48377008	C	A	C48377008A	RB1	NM_000321.3(RB1):c.1306C>A:p.Gln436Lys	coding	Benign/Likely_benign
13	48377020	G	T	G48377020T	RB1	NM_000321.3(RB1):c.1318G>T:p.Glu440Ter	coding	Pathogenic
13	48379593	G	A	G48379593A	RB1	NM_000321.3(RB1):c.1333-1G>A	noncoding	Pathogenic
13	48379593	G	C	G48379593C	RB1	NM_000321.3(RB1):c.1333-1G>C	noncoding	Pathogenic
13	48379623	C	G	C48379623G	RB1	NM_000321.3(RB1):c.1362C>G:p.Tyr454Ter	coding	Pathogenic
13	48380039	A	G	A48380039G	RB1	NM_000321.3(RB1):c.1390-14A>G	noncoding	Pathogenic
13	48380066	T	G	T48380066G	RB1	NM_000321.3(RB1):c.1403T>G:p.Leu468Ter	coding	Pathogenic
13	48380085	G	C	G48380085C	RB1	NM_000321.3(RB1):c.1421+1G>C	coding	Pathogenic/Likely_pathogenic
13	48380163	A	G	A48380163G	RB1	NM_000321.3(RB1):c.1422-2A>G	noncoding	Pathogenic
13	48380210	C	T	C48380210T	RB1	NM_000321.3(RB1):c.1467C>T:p.Cys489=	coding	Benign/Likely_benign
13	48380237	T	G	T48380237G	RB1	NM_000321.3(RB1):c.1494T>G:p.Tyr498Ter	coding	Pathogenic
13	48380243	T	C	T48380243C	RB1	NM_000321.3(RB1):c.1498+2T>C	noncoding	Pathogenic
13	48380243	T	G	T48380243G	RB1	NM_000321.3(RB1):c.1498+2T>G	noncoding	Pathogenic/Likely_pathogenic
13	48380246	G	A	G48380246A	RB1	NM_000321.3(RB1):c.1498+5G>A	noncoding	Pathogenic
13	48381065	T	A	T48381065A	RB1	NM_000321.3(RB1):c.1499-182T>A	noncoding	Benign
13	48381316	T	A	T48381316A	RB1	NM_000321.3(RB1):c.1568T>A:p.Leu523Ter	coding	Pathogenic
13	48381345	G	T	G48381345T	RB1	NM_000321.3(RB1):c.1597G>T:p.Glu533Ter	coding	Pathogenic
13	48381367	G	T	G48381367T	RB1	NM_000321.3(RB1):c.1619G>T:p.Gly540Val	coding	Benign/Likely_benign
13	48381399	G	T	G48381399T	RB1	NM_000321.3(RB1):c.1651G>T:p.Glu551Ter	coding	Pathogenic
13	48381445	T	G	T48381445G	RB1	NM_000321.3(RB1):c.1695+2T>G	noncoding	Pathogenic
13	48381540	T	A	T48381540A	RB1	NM_000321.3(RB1):c.1695+97T>A	noncoding	Benign
13	48411303	G	T	G48411303T	RB1	NM_001162498.3(LPAR6):c.*86C>A	coding	Benign
13	48412423	T	C	T48412423C	LPAR6	NM_001162498.3(LPAR6):c.1A>G:p.Met1Val	coding	Pathogenic
13	48412896	A	G	A48412896G	LPAR6	NM_001162498.3(LPAR6):c.-473T>C	coding	Benign
13	48452716	C	T	C48452716T	RB1	NM_000321.3(RB1):c.1696-277C>T	noncoding	Benign
13	48453067	T	C	T48453067C	RB1	NM_000321.3(RB1):c.1770T>C:p.Cys590=	coding	Benign/Likely_benign
13	48453112	G	A	G48453112A	RB1	NM_000321.3(RB1):c.1814+1G>A	coding	Pathogenic
13	48453114	A	C	A48453114C	RB1	NM_000321.3(RB1):c.1814+3A>C	noncoding	Pathogenic
13	48456100	A	G	A48456100G	RB1	NM_000321.3(RB1):c.1815-104A>G	noncoding	Benign
13	48456242	C	G	C48456242G	RB1	NM_000321.3(RB1):c.1853C>G:p.Ser618Ter	coding	Pathogenic
13	48456290	C	G	C48456290G	RB1	NM_000321.3(RB1):c.1901C>G:p.Ser634Ter	coding	Pathogenic
13	48456368	T	A	T48456368A	RB1	NM_000321.3(RB1):c.1960+19T>A	noncoding	Benign
13	48459611	G	A	G48459611A	RB1	NM_000321.3(RB1):c.1961-77G>A	noncoding	Benign
13	48459694	G	A	G48459694A	RB1	NM_000321.3(RB1):c.1967G>A:p.Arg656Gln	coding	Benign/Likely_benign
13	48459729	C	T	C48459729T	RB1	NM_000321.3(RB1):c.2002C>T:p.Arg668Cys	coding	Benign/Likely_benign
13	48459769	G	A	G48459769A	RB1	NM_000321.3(RB1):c.2042G>A:p.Trp681Ter	coding	Pathogenic
13	48459820	G	C	G48459820C	RB1	NM_000321.3(RB1):c.2093G>C:p.Arg698Thr	coding	Pathogenic
13	48459821	G	C	G48459821C	RB1	NM_000321.3(RB1):c.2094G>C:p.Arg698Ser	coding	Pathogenic/Likely_pathogenic
13	48459834	G	A	G48459834A	RB1	NM_000321.3(RB1):c.2106+1G>A	coding	Pathogenic
13	48459834	G	C	G48459834C	RB1	NM_000321.3(RB1):c.2106+1G>C	coding	Pathogenic
13	48463729	A	G	A48463729G	RB1	NM_000321.3(RB1):c.2107-2A>G	noncoding	Pathogenic
13	48463837	T	C	T48463837C	RB1	NM_000321.3(RB1):c.2211+2T>C	noncoding	Pathogenic
13	48463840	G	A	G48463840A	RB1	NM_000321.3(RB1):c.2211+5G>A	noncoding	Pathogenic
13	48464983	A	T	A48464983T	RB1	NM_000321.3(RB1):c.2212-15A>T	noncoding	Benign
13	48464984	C	T	C48464984T	RB1	NM_000321.3(RB1):c.2212-14C>T	noncoding	Benign
13	48464985	T	A	T48464985A	RB1	NM_000321.3(RB1):c.2212-13T>A	noncoding	Pathogenic
13	48464986	G	T	G48464986T	RB1	NM_000321.3(RB1):c.2212-12G>T	noncoding	Benign
13	48464989	C	A	C48464989A	RB1	NM_000321.3(RB1):c.2212-9C>A	noncoding	Benign/Likely_benign
13	48465022	G	T	G48465022T	RB1	NM_000321.3(RB1):c.2236G>T:p.Glu746Ter	coding	Pathogenic
13	48465073	A	T	A48465073T	RB1	NM_000321.3(RB1):c.2287A>T:p.Arg763Ter	coding	Pathogenic
13	48465079	A	T	A48465079T	RB1	NM_000321.3(RB1):c.2293A>T:p.Lys765Ter	coding	Pathogenic
13	48465094	C	T	C48465094T	RB1	NM_000321.3(RB1):c.2308C>T:p.Gln770Ter	coding	Pathogenic
13	48465113	T	A	T48465113A	RB1	NM_000321.3(RB1):c.2325+2T>A	noncoding	Pathogenic
13	48465299	C	G	C48465299G	RB1	NM_000321.3(RB1):c.2420C>G:p.Ser807Ter	coding	Pathogenic
13	48465342	A	G	A48465342G	RB1	NM_000321.3(RB1):c.2463A>G:p.Thr821=	coding	Benign/Likely_benign
13	48473315	A	G	A48473315G	RB1	NM_000321.3(RB1):c.2490-45A>G	noncoding	Benign/Likely_benign
13	48476716	C	T	C48476716T	RB1	NM_000321.3(RB1):c.2536C>T:p.Gln846Ter	coding	Pathogenic
13	48476844	G	A	G48476844A	RB1	NM_000321.3(RB1):c.2663+1G>A	coding	Pathogenic
13	48476844	G	T	G48476844T	RB1	NM_000321.3(RB1):c.2663+1G>T	coding	Pathogenic
13	48477712	G	A	G48477712A	RB1	NM_000321.3(RB1):c.2713+308G>A	noncoding	Benign
13	48479987	C	T	C48479987T	RB1	NM_000321.3(RB1):c.2714-11C>T	noncoding	Benign
13	49534116	T	C	T49534116C	RCBTB1	NM_018191.4(RCBTB1):c.*6A>G	noncoding	Benign
13	49534228	T	C	T49534228C	RCBTB1	NM_018191.4(RCBTB1):c.1490A>G:p.Asn497Ser	coding	Benign
13	49534344	C	G	C49534344G	RCBTB1	NM_018191.4(RCBTB1):c.1456-82G>C	noncoding	Benign
13	49540845	T	A	T49540845A	RCBTB1	NM_018191.4(RCBTB1):c.1455+31A>T	noncoding	Benign
13	49540864	T	C	T49540864C	RCBTB1	NM_018191.4(RCBTB1):c.1455+12A>G	noncoding	Benign
13	49541533	C	T	C49541533T	RCBTB1	NM_018191.4(RCBTB1):c.1324+143G>A	noncoding	Benign
13	49541661	A	G	A49541661G	RCBTB1	NM_018191.4(RCBTB1):c.1324+15T>C	noncoding	Benign
13	49542002	A	G	A49542002G	RCBTB1	NM_018191.4(RCBTB1):c.1173-175T>C	noncoding	Benign
13	49544874	C	T	C49544874T	RCBTB1	NM_018191.4(RCBTB1):c.1046-11G>A	noncoding	Benign
13	49549475	C	T	C49549475T	RCBTB1	NM_018191.4(RCBTB1):c.1028G>A:p.Trp343Ter	coding	Pathogenic
13	49549486	G	C	G49549486C	RCBTB1	NM_018191.4(RCBTB1):c.1017C>G:p.Pro339=	coding	Benign
13	49549492	G	A	G49549492A	RCBTB1	NM_018191.4(RCBTB1):c.1011C>T:p.Ala337=	coding	Benign
13	49549513	G	A	G49549513A	RCBTB1	NM_018191.4(RCBTB1):c.990C>T:p.Asp330=	coding	Benign
13	49549696	C	G	C49549696G	RCBTB1	NM_018191.4(RCBTB1):c.855-48G>C	noncoding	Benign
13	49551410	C	T	C49551410T	RCBTB1	NM_018191.4(RCBTB1):c.770G>A:p.Trp257Ter	coding	Pathogenic
13	49551486	C	T	C49551486T	RCBTB1	NM_018191.4(RCBTB1):c.712-18G>A	noncoding	Benign
13	49551542	T	C	T49551542C	RCBTB1	NM_018191.4(RCBTB1):c.712-74A>G	noncoding	Benign
13	49552246	G	A	G49552246A	RCBTB1	NM_018191.4(RCBTB1):c.643C>T:p.Leu215=	coding	Benign
13	49552255	G	A	G49552255A	RCBTB1	NM_018191.4(RCBTB1):c.634C>T:p.Gln212Ter	coding	Pathogenic
13	49552268	G	T	G49552268T	RCBTB1	NM_018191.4(RCBTB1):c.621C>A:p.Tyr207Ter	coding	Pathogenic
13	49552305	A	G	A49552305G	RCBTB1	NM_018191.4(RCBTB1):c.604-20T>C	noncoding	Benign
13	49552354	C	T	C49552354T	RCBTB1	NM_018191.4(RCBTB1):c.604-69G>A	noncoding	Benign
13	49552369	A	G	A49552369G	RCBTB1	NM_018191.4(RCBTB1):c.604-84T>C	noncoding	Benign
13	49552531	T	C	T49552531C	RCBTB1	NM_018191.4(RCBTB1):c.604-246A>G	noncoding	Benign
13	49555463	C	T	C49555463T	RCBTB1	NM_018191.4(RCBTB1):c.603+52G>A	noncoding	Benign
13	49555479	A	G	A49555479G	RCBTB1	NM_018191.4(RCBTB1):c.603+36T>C	noncoding	Benign
13	49555496	G	A	G49555496A	RCBTB1	NM_018191.4(RCBTB1):c.603+19C>T	noncoding	Benign
13	49555882	T	A	T49555882A	RCBTB1	NM_018191.4(RCBTB1):c.445-209A>T	noncoding	Benign
13	49559782	A	G	A49559782G	RCBTB1	NM_018191.4(RCBTB1):c.444+136T>C	noncoding	Benign
13	49559884	A	G	A49559884G	RCBTB1	NM_018191.4(RCBTB1):c.444+34T>C	noncoding	Benign
13	49559911	T	C	T49559911C	RCBTB1	NM_018191.4(RCBTB1):c.444+7A>G	noncoding	Benign
13	49559924	A	G	A49559924G	RCBTB1	NM_018191.4(RCBTB1):c.438T>C:p.Asp146=	coding	Benign
13	49559963	T	C	T49559963C	RCBTB1	NM_018191.4(RCBTB1):c.399A>G:p.Val133=	coding	Benign
13	49560004	G	A	G49560004A	RCBTB1	NM_018191.4(RCBTB1):c.358C>T:p.Gln120Ter	coding	Pathogenic
13	49560014	A	G	A49560014G	RCBTB1	NM_018191.4(RCBTB1):c.348T>C:p.Ile116=	coding	Benign
13	49560222	T	C	T49560222C	RCBTB1	NM_018191.4(RCBTB1):c.278-138A>G	noncoding	Benign
13	49567140	C	T	C49567140T	RCBTB1	NM_018191.4(RCBTB1):c.126+14G>A	noncoding	Benign
13	49567209	G	A	G49567209A	RCBTB1	NM_018191.4(RCBTB1):c.71C>T:p.Ala24Val	coding	Benign
13	49567226	G	A	G49567226A	RCBTB1	NM_018191.4(RCBTB1):c.54C>T:p.Ile18=	coding	Benign
13	49706356	A	G	A49706356G	KPNA3	NM_002267.4(KPNA3):c.1049T>C:p.Leu350Pro	coding	Pathogenic
13	49709603	A	C	A49709603C	KPNA3	NM_002267.4(KPNA3):c.1001T>G:p.Leu334Arg	coding	Pathogenic
13	49709621	A	G	A49709621G	KPNA3	NM_002267.4(KPNA3):c.983T>C:p.Leu328Pro	coding	Pathogenic
13	49709660	G	A	G49709660A	KPNA3	NM_002267.4(KPNA3):c.944C>T:p.Thr315Ile	coding	Pathogenic
13	50909575	A	G	A50909575G	RNASEH2B	Single_allele	noncoding	Benign
13	50910220	C	T	C50910220T	RNASEH2B	NM_024570.4(RNASEH2B):c.64+80C>T	noncoding	Benign
13	50910309	C	T	C50910309T	RNASEH2B	NM_024570.4(RNASEH2B):c.64+169C>T	noncoding	Benign
13	50927474	T	A	T50927474A	RNASEH2B	NM_024570.4(RNASEH2B):c.132T>A:p.Cys44Ter	coding	Pathogenic
13	50929456	G	C	G50929456C	RNASEH2B	NM_024570.4(RNASEH2B):c.137-19G>C	noncoding	Benign
13	50929510	C	T	C50929510T	RNASEH2B	NM_024570.4(RNASEH2B):c.172C>T:p.Gln58Ter	coding	Pathogenic
13	50930872	T	G	T50930872G	RNASEH2B	NM_024570.4(RNASEH2B):c.321+113T>G	noncoding	Benign
13	50934894	C	T	C50934894T	RNASEH2B	NM_024570.4(RNASEH2B):c.331C>T:p.Gln111Ter	coding	Pathogenic
13	50943463	G	A	G50943463A	RNASEH2B	NM_024570.4(RNASEH2B):c.510+69G>A	noncoding	Benign
13	50945692	G	A	G50945692A	RNASEH2B	NM_024570.4(RNASEH2B):c.616+160G>A	noncoding	Benign
13	50953951	C	G	C50953951G	RNASEH2B	NM_024570.4(RNASEH2B):c.788C>G:p.Thr263Ser	coding	Benign
13	50954001	T	C	T50954001C	RNASEH2B	NM_024570.4(RNASEH2B):c.822+16T>C	noncoding	Benign
13	50956278	A	T	A50956278T	RNASEH2B	NM_024570.4(RNASEH2B):c.823-80A>T	noncoding	Benign
13	51934741	G	A	G51934741A	ATP7B	NM_000053.4(ATP7B):c.*15C>T	noncoding	Benign/Likely_benign
13	51934959	G	A	G51934959A	ATP7B	NM_000053.4(ATP7B):c.4195C>T:p.Gln1399Ter	coding	Pathogenic
13	51935010	C	A	C51935010A	ATP7B	NM_000053.4(ATP7B):c.4144G>T:p.Glu1382Ter	coding	Pathogenic
13	51935030	C	A	C51935030A	ATP7B	NM_000053.4(ATP7B):c.4125-1G>T	coding	Pathogenic
13	51935854	C	G	C51935854G	ATP7B	NM_000053.4(ATP7B):c.4022-159G>C	noncoding	Benign
13	51937607	T	A	T51937607A	ATP7B	NM_000053.4(ATP7B):c.3772A>T:p.Lys1258Ter	coding	Pathogenic
13	51939086	C	T	C51939086T	ATP7B	NM_000053.4(ATP7B):c.3664G>A:p.Asp1222Asn	coding	Pathogenic
13	51939130	T	C	T51939130C	ATP7B	NM_000053.4(ATP7B):c.3620A>G:p.His1207Arg	coding	Benign/Likely_benign
13	51939194	C	G	C51939194G	ATP7B	NM_000053.4(ATP7B):c.3557-1G>C	coding	Pathogenic
13	51939501	G	A	G51939501A	ATP7B	NM_000053.4(ATP7B):c.3557-308C>T	noncoding	Benign
13	51941111	C	T	C51941111T	ATP7B	NM_000053.4(ATP7B):c.3526G>A:p.Gly1176Arg	coding	Pathogenic
13	51941186	G	A	G51941186A	ATP7B	NM_000053.4(ATP7B):c.3451C>T:p.Arg1151Cys	coding	Pathogenic/Likely_pathogenic
13	51942503	C	T	C51942503T	ATP7B	NM_000053.4(ATP7B):c.3295G>A:p.Gly1099Ser	coding	Pathogenic/Likely_pathogenic
13	51942516	G	T	G51942516T	ATP7B	NM_000053.4(ATP7B):c.3282C>A:p.Phe1094Leu	coding	Pathogenic
13	51942518	A	G	A51942518G	ATP7B	NM_000053.4(ATP7B):c.3280T>C:p.Phe1094Leu	coding	Pathogenic
13	51942528	G	C	G51942528C	ATP7B	NM_000053.4(ATP7B):c.3270C>G:p.Tyr1090Ter	coding	Pathogenic
13	51942555	C	T	C51942555T	ATP7B	NM_000053.4(ATP7B):c.3244-1G>A	coding	Pathogenic
13	51942773	T	C	T51942773C	ATP7B	NM_000053.4(ATP7B):c.3244-219A>G	noncoding	Benign
13	51943930	T	G	T51943930G	ATP7B	NM_000053.4(ATP7B):c.3243+179A>C	noncoding	Benign
13	51944115	A	T	A51944115T	ATP7B	NM_000053.4(ATP7B):c.3237T>A:p.Cys1079Ter	coding	Pathogenic/Likely_pathogenic
13	51944146	T	C	T51944146C	ATP7B	NM_000053.4(ATP7B):c.3206A>G:p.His1069Arg	coding	Pathogenic
13	51944162	C	T	C51944162T	ATP7B	NM_000053.4(ATP7B):c.3190G>A:p.Glu1064Lys	coding	Pathogenic/Likely_pathogenic
13	51944212	T	A	T51944212A	ATP7B	NM_000053.4(ATP7B):c.3140A>T:p.Asp1047Val	coding	Pathogenic/Likely_pathogenic
13	51944213	C	A	C51944213A	ATP7B	NM_000053.4(ATP7B):c.3139G>T:p.Asp1047Tyr	coding	Pathogenic
13	51944266	G	A	G51944266A	ATP7B	NM_000053.4(ATP7B):c.3086C>T:p.Thr1029Ile	coding	Pathogenic/Likely_pathogenic
13	51944273	C	G	C51944273G	ATP7B	NM_000053.4(ATP7B):c.3079G>C:p.Asp1027His	coding	Pathogenic
13	51944290	A	T	A51944290T	ATP7B	NM_000053.4(ATP7B):c.3062T>A:p.Ile1021Lys	coding	Pathogenic/Likely_pathogenic
13	51944292	C	T	C51944292T	ATP7B	NM_000053.4(ATP7B):c.3061-1G>A	coding	Pathogenic
13	51946279	C	A	C51946279A	ATP7B	NM_000053.4(ATP7B):c.3060+5G>T	noncoding	Pathogenic/Likely_pathogenic
13	51946282	A	G	A51946282G	ATP7B	NM_000053.4(ATP7B):c.3060+2T>C	noncoding	Pathogenic
13	51946291	G	A	G51946291A	ATP7B	NM_000053.4(ATP7B):c.3053C>T:p.Ala1018Val	coding	Pathogenic/Likely_pathogenic
13	51946315	T	G	T51946315G	ATP7B	NM_000053.4(ATP7B):c.3029A>C:p.Lys1010Thr	coding	Pathogenic/Likely_pathogenic
13	51946346	C	G	C51946346G	ATP7B	NM_000053.4(ATP7B):c.2998G>C:p.Gly1000Arg	coding	Pathogenic
13	51946346	C	T	C51946346T	ATP7B	NM_000053.4(ATP7B):c.2998G>A:p.Gly1000Arg	coding	Pathogenic/Likely_pathogenic
13	51949710	C	A	C51949710A	ATP7B	NM_000053.4(ATP7B):c.2817G>T:p.Trp939Cys	coding	Pathogenic/Likely_pathogenic
13	51949710	C	G	C51949710G	ATP7B	NM_000053.4(ATP7B):c.2817G>C:p.Trp939Cys	coding	Pathogenic
13	51949720	A	T	A51949720T	ATP7B	NM_000053.4(ATP7B):c.2807T>A:p.Leu936Ter	coding	Pathogenic
13	51949797	C	T	C51949797T	ATP7B	NM_000053.4(ATP7B):c.2731-1G>A	coding	Pathogenic
13	51950132	C	A	C51950132A	ATP7B	NM_000053.4(ATP7B):c.2605G>T:p.Gly869Ter	coding	Pathogenic
13	51950399	C	A	C51950399A	ATP7B	NM_000053.4(ATP7B):c.2448G>T:p.Arg816Ser	coding	Pathogenic
13	51957511	C	T	C51957511T	ATP7B	NM_000053.4(ATP7B):c.2447+5G>A	noncoding	Pathogenic
13	51957609	T	C	T51957609C	ATP7B	NM_000053.4(ATP7B):c.2356-2A>G	noncoding	Pathogenic
13	51958331	A	C	A51958331C	ATP7B	NM_000053.4(ATP7B):c.2335T>G:p.Trp779Gly	coding	Pathogenic/Likely_pathogenic
13	51958363	G	A	G51958363A	ATP7B	NM_000053.4(ATP7B):c.2303C>T:p.Pro768Leu	coding	Pathogenic/Likely_pathogenic
13	51958366	G	A	G51958366A	ATP7B	NM_000053.4(ATP7B):c.2300C>T:p.Pro767Leu	coding	Pathogenic/Likely_pathogenic
13	51960145	T	A	T51960145A	ATP7B	NM_000053.4(ATP7B):c.2121+3A>T	noncoding	Pathogenic
13	51960145	T	C	T51960145C	ATP7B	NM_000053.4(ATP7B):c.2121+3A>G	noncoding	Pathogenic/Likely_pathogenic
13	51960161	C	T	C51960161T	ATP7B	NM_000053.4(ATP7B):c.2108G>A:p.Cys703Tyr	coding	Pathogenic/Likely_pathogenic
13	51964870	A	G	A51964870G	ATP7B	NM_000053.4(ATP7B):c.1869+2T>C	noncoding	Pathogenic
13	51964895	G	A	G51964895A	ATP7B	NM_000053.4(ATP7B):c.1846C>T:p.Arg616Trp	coding	Pathogenic/Likely_pathogenic
13	51968474	G	T	G51968474T	ATP7B	NM_000053.4(ATP7B):c.1677C>A:p.Tyr559Ter	coding	Pathogenic
13	51968512	G	A	G51968512A	ATP7B	NM_000053.4(ATP7B):c.1639C>T:p.Gln547Ter	coding	Pathogenic/Likely_pathogenic
13	51970441	C	T	C51970441T	ATP7B	NM_000053.4(ATP7B):c.1543+51G>A	noncoding	Benign
13	51970498	C	A	C51970498A	ATP7B	NM_000053.4(ATP7B):c.1537G>T:p.Glu513Ter	coding	Pathogenic
13	51970663	C	A	C51970663A	ATP7B	NM_000053.4(ATP7B):c.1372G>T:p.Glu458Ter	coding	Pathogenic/Likely_pathogenic
13	51970666	G	A	G51970666A	ATP7B	NM_000053.4(ATP7B):c.1369C>T:p.Gln457Ter	coding	Pathogenic
13	51970696	G	A	G51970696A	ATP7B	NM_000053.4(ATP7B):c.1339C>T:p.Gln447Ter	coding	Pathogenic
13	51970751	T	C	T51970751C	ATP7B	NM_000053.4(ATP7B):c.1286-2A>G	noncoding	Pathogenic
13	51974034	C	A	C51974034A	ATP7B	NM_000053.4(ATP7B):c.1186G>T:p.Glu396Ter	coding	Pathogenic
13	51974073	G	A	G51974073A	ATP7B	NM_000053.4(ATP7B):c.1147C>T:p.Gln383Ter	coding	Pathogenic
13	51974499	G	A	G51974499A	ATP7B	NM_000053.4(ATP7B):c.721C>T:p.Gln241Ter	coding	Pathogenic
13	51974658	G	A	G51974658A	ATP7B	NM_000053.4(ATP7B):c.562C>T:p.Gln188Ter	coding	Pathogenic/Likely_pathogenic
13	51974816	G	C	G51974816C	ATP7B	NM_000053.4(ATP7B):c.404C>G:p.Ser135Ter	coding	Pathogenic
13	51974821	C	T	C51974821T	ATP7B	NM_000053.4(ATP7B):c.399G>A:p.Trp133Ter	coding	Pathogenic/Likely_pathogenic
13	51974889	G	A	G51974889A	ATP7B	NM_000053.4(ATP7B):c.331C>T:p.Gln111Ter	coding	Pathogenic/Likely_pathogenic
13	51975012	G	A	G51975012A	ATP7B	NM_000053.4(ATP7B):c.208C>T:p.Gln70Ter	coding	Pathogenic
13	51975474	G	A	G51975474A	ATP7B	NM_000053.4(ATP7B):c.52-306C>T	noncoding	Benign
13	52011177	C	T	C52011177T	ATP7B	NM_000053.4(ATP7B):c.51+110G>A	noncoding	Benign/Likely_benign
13	52012482	G	T	G52012482T	ALG11	NM_001004127.3(ALG11):c.44+20G>T	noncoding	Benign/Likely_benign
13	52024999	A	G	A52024999G	ALG11	NM_001004127.3(ALG11):c.1207+62A>G	noncoding	Benign
13	52029760	G	A	G52029760A	ALG11	NM_001004127.3(ALG11):c.*1170G>A	coding	Benign
13	59666437	A	T	A59666437T	DIAPH3	NM_001042517.2(DIAPH3):c.*147T>A	noncoding	Benign
13	59666568	T	A	T59666568A	DIAPH3	NM_001042517.2(DIAPH3):c.*16A>T	noncoding	Benign
13	59666696	G	A	G59666696A	DIAPH3	NM_001042517.2(DIAPH3):c.3470C>T:p.Ala1157Val	coding	Benign
13	59666862	A	G	A59666862G	DIAPH3	NM_001042517.2(DIAPH3):c.3320-16T>C	noncoding	Benign
13	59773875	C	T	C59773875T	DIAPH3	NM_001042517.2(DIAPH3):c.3319+314G>A	noncoding	Benign
13	59775040	C	T	C59775040T	DIAPH3	NM_001042517.2(DIAPH3):c.3164-217G>A	noncoding	Benign
13	59811116	C	T	C59811116T	DIAPH3	NM_001042517.2(DIAPH3):c.3028-193G>A	noncoding	Benign
13	59832920	G	A	G59832920A	DIAPH3	NM_001042517.2(DIAPH3):c.3027+187C>T	noncoding	Benign
13	59833036	C	T	C59833036T	DIAPH3	NM_001042517.2(DIAPH3):c.3027+71G>A	noncoding	Benign
13	59879271	C	G	C59879271G	DIAPH3	NM_001042517.2(DIAPH3):c.2565G>C:p.Arg855=	coding	Benign
13	59879447	G	A	G59879447A	DIAPH3	NM_001042517.2(DIAPH3):c.2389C>T:p.Arg797Trp	coding	Benign
13	59879704	T	C	T59879704C	DIAPH3	NM_001042517.2(DIAPH3):c.2368-236A>G	noncoding	Benign
13	59911576	G	A	G59911576A	DIAPH3	NM_001042517.2(DIAPH3):c.2367+159C>T	noncoding	Benign
13	59924796	A	G	A59924796G	DIAPH3	NM_001042517.2(DIAPH3):c.2149T>C:p.Ser717Pro	coding	Benign/Likely_benign
13	59924833	C	T	C59924833T	DIAPH3	NM_001042517.2(DIAPH3):c.2112G>A:p.Ser704=	coding	Benign
13	59970358	T	C	T59970358C	DIAPH3	NM_001042517.2(DIAPH3):c.1960-300A>G	noncoding	Benign
13	59970367	C	T	C59970367T	DIAPH3	NM_001042517.2(DIAPH3):c.1960-309G>A	noncoding	Benign
13	59970992	T	C	T59970992C	DIAPH3	NM_001042517.2(DIAPH3):c.1819A>G:p.Ser607Gly	coding	Benign
13	59974029	T	C	T59974029C	DIAPH3	NM_001042517.2(DIAPH3):c.1650+323A>G	noncoding	Benign
13	59974097	A	T	A59974097T	DIAPH3	NM_001042517.2(DIAPH3):c.1650+255T>A	noncoding	Benign
13	59990996	C	T	C59990996T	DIAPH3	NM_001042517.2(DIAPH3):c.1361+162G>A	noncoding	Benign
13	59991937	A	G	A59991937G	DIAPH3	NM_001042517.2(DIAPH3):c.1244+131T>C	noncoding	Benign
13	59992821	G	A	G59992821A	DIAPH3	NM_001042517.2(DIAPH3):c.1015-238C>T	noncoding	Benign
13	60008490	T	G	T60008490G	DIAPH3	NM_001042517.2(DIAPH3):c.1014+54A>C	noncoding	Benign
13	60008517	C	G	C60008517G	DIAPH3	NM_001042517.2(DIAPH3):c.1014+27G>C	noncoding	Benign
13	60016165	C	T	C60016165T	DIAPH3	NM_001042517.2(DIAPH3):c.627-20G>A	noncoding	Benign
13	60016173	C	T	C60016173T	DIAPH3	NM_001042517.2(DIAPH3):c.627-28G>A	noncoding	Benign
13	60016416	G	C	G60016416C	DIAPH3	NM_001042517.2(DIAPH3):c.627-271C>G	noncoding	Benign
13	60016443	A	C	A60016443C	DIAPH3	NM_001042517.2(DIAPH3):c.627-298T>G	noncoding	Benign
13	60042926	A	G	A60042926G	DIAPH3	NM_001042517.2(DIAPH3):c.496-106T>C	noncoding	Benign
13	60042972	A	C	A60042972C	DIAPH3	NM_001042517.2(DIAPH3):c.496-152T>G	noncoding	Benign
13	60111883	G	C	G60111883C	DIAPH3	NM_001042517.2(DIAPH3):c.390+127C>G	noncoding	Benign
13	60112194	G	C	G60112194C	DIAPH3	NM_001042517.2(DIAPH3):c.214-8C>G	noncoding	Benign/Likely_benign
13	60112342	A	C	A60112342C	DIAPH3	NM_001042517.2(DIAPH3):c.214-156T>G	noncoding	Benign
13	60133182	A	G	A60133182G	DIAPH3	NM_001042517.2(DIAPH3):c.181-193T>C	noncoding	Benign
13	60163938	C	T	C60163938T	DIAPH3	NG_032693.2:g.5048G>A	noncoding	Pathogenic
13	60163939	G	A	G60163939A	DIAPH3	NG_032693.2:g.5047C>T	noncoding	Pathogenic
13	60164054	A	C	A60164054C	DIAPH3	Single_allele	noncoding	Benign
13	67226287	C	G	C67226287G	PCDH9	NM_203487.3(PCDH9):c.2154G>C:p.Val718=	coding	Benign
13	72772152	T	C	T72772152C	DIS3	NM_014953.5(DIS3):c.1503+7A>G	noncoding	Benign
13	72772268	T	C	T72772268C	DIS3	NM_014953.5(DIS3):c.1394A>G:p.Lys465Arg	coding	Benign
13	72773721	G	A	G72773721A	DIS3	NM_014953.5(DIS3):c.1202C>T:p.Ala401Val	coding	Benign
13	72792431	T	C	T72792431C	PIBF1	NM_006346.4(PIBF1):c.253-16T>C	noncoding	Benign
13	72792566	A	T	A72792566T	PIBF1	NM_006346.4(PIBF1):c.353+19A>T	noncoding	Benign
13	72795504	A	G	A72795504G	PIBF1	NM_006346.4(PIBF1):c.499A>G:p.Ile167Val	coding	Benign
13	72798064	G	A	G72798064A	PIBF1	NM_006346.4(PIBF1):c.672+38G>A	noncoding	Benign
13	72821964	A	G	A72821964G	PIBF1	NM_006346.4(PIBF1):c.788A>G:p.Asn263Ser	coding	Benign
13	72827099	G	A	G72827099A	PIBF1	NM_006346.4(PIBF1):c.896G>A:p.Arg299Gln	coding	Benign
13	72965328	A	G	A72965328G	PIBF1	NM_006346.4(PIBF1):c.1888A>G:p.Ile630Val	coding	Benign
13	72973692	G	C	G72973692C	PIBF1	NM_006346.4(PIBF1):c.2049+17G>C	noncoding	Benign
13	75286668	C	A	C75286668A	TBC1D4	NM_014832.5(TBC1D4):c.*124G>T	noncoding	Benign
13	75289179	G	C	G75289179C	TBC1D4	NM_014832.5(TBC1D4):c.3487-69C>G	noncoding	Benign
13	75292148	G	A	G75292148A	TBC1D4	NM_014832.5(TBC1D4):c.3440C>T:p.Thr1147Met	coding	Benign
13	75292518	T	A	T75292518A	TBC1D4	NM_014832.5(TBC1D4):c.3317-247A>T	noncoding	Benign
13	75292525	C	T	C75292525T	TBC1D4	NM_014832.5(TBC1D4):c.3317-254G>A	noncoding	Benign
13	75294562	T	C	T75294562C	TBC1D4	NM_014832.5(TBC1D4):c.3316+292A>G	noncoding	Benign
13	75294705	C	T	C75294705T	TBC1D4	NM_014832.5(TBC1D4):c.3316+149G>A	noncoding	Benign
13	75295271	A	T	A75295271T	TBC1D4	NM_014832.5(TBC1D4):c.3157-258T>A	noncoding	Benign
13	75299651	G	A	G75299651A	TBC1D4	NM_014832.5(TBC1D4):c.2912-77C>T	noncoding	Benign
13	75302253	G	A	G75302253A	TBC1D4	NM_014832.5(TBC1D4):c.2901C>T:p.Leu967=	coding	Benign
13	75310080	C	T	C75310080T	TBC1D4	NM_014832.5(TBC1D4):c.2455G>A:p.Val819Ile	coding	Benign
13	75310154	G	A	G75310154A	TBC1D4	NM_014832.5(TBC1D4):c.2384-3C>T	noncoding	Benign
13	75319879	T	C	T75319879C	TBC1D4	NM_014832.5(TBC1D4):c.2222+135A>G	noncoding	Benign
13	75323982	C	A	C75323982A	TBC1D4	NM_014832.5(TBC1D4):c.2198+255G>T	noncoding	Benign
13	75324027	T	C	T75324027C	TBC1D4	NM_014832.5(TBC1D4):c.2198+210A>G	noncoding	Benign
13	75324460	C	A	C75324460A	TBC1D4	NM_014832.5(TBC1D4):c.2034-59G>T	noncoding	Benign
13	75325899	C	A	C75325899A	TBC1D4	NM_014832.5(TBC1D4):c.2033+298G>T	noncoding	Benign
13	75326756	C	T	C75326756T	TBC1D4	NM_014832.5(TBC1D4):c.1807-333G>A	noncoding	Benign
13	75327613	G	T	G75327613T	TBC1D4	NM_014832.5(TBC1D4):c.1806+139C>A	noncoding	Benign
13	75336773	C	A	C75336773A	TBC1D4	NM_014832.5(TBC1D4):c.1731+148G>T	noncoding	Benign
13	75341079	T	C	T75341079C	TBC1D4	NM_014832.5(TBC1D4):c.1611+46A>G	noncoding	Benign
13	75341080	A	C	A75341080C	TBC1D4	NM_014832.5(TBC1D4):c.1611+45T>G	noncoding	Benign
13	75341081	T	A	T75341081A	TBC1D4	NM_014832.5(TBC1D4):c.1611+44A>T	noncoding	Benign
13	75341723	C	A	C75341723A	TBC1D4	NM_014832.5(TBC1D4):c.1409-136G>T	noncoding	Benign
13	75359516	T	C	T75359516C	TBC1D4	NM_014832.5(TBC1D4):c.1170+253A>G	noncoding	Benign
13	75361793	T	C	T75361793C	TBC1D4	NM_014832.5(TBC1D4):c.1080+233A>G	noncoding	Benign
13	75361850	C	G	C75361850G	TBC1D4	NM_014832.5(TBC1D4):c.1080+176G>C	noncoding	Benign
13	75362383	C	G	C75362383G	TBC1D4	NM_014832.5(TBC1D4):c.723G>C:p.Gly241=	coding	Benign
13	75480939	C	T	C75480939T	TBC1D4	NM_014832.5(TBC1D4):c.498+331G>A	noncoding	Benign
13	75480960	G	C	G75480960C	TBC1D4	NM_014832.5(TBC1D4):c.498+310C>G	noncoding	Benign
13	75481261	C	T	C75481261T	TBC1D4	NM_014832.5(TBC1D4):c.498+9G>A	noncoding	Benign
13	75481466	G	A	G75481466A	TBC1D4	NM_014832.5(TBC1D4):c.302C>T:p.Ala101Val	coding	Benign
13	75481684	G	C	G75481684C	TBC1D4	NM_014832.5(TBC1D4):c.84C>G:p.Pro28=	coding	Benign
13	75482029	T	C	T75482029C	TBC1D4	NM_014832.5(TBC1D4):c.-262A>G	noncoding	Benign
13	76992182	G	A	G76992182A	CLN5	NM_006493.4(CLN5):c.84G>A:p.Trp28Ter	coding	Pathogenic/Likely_pathogenic
13	76992484	G	A	G76992484A	CLN5	NM_006493.4(CLN5):c.173+213G>A	noncoding	Benign
13	76992509	C	T	C76992509T	CLN5	NM_006493.4(CLN5):c.173+238C>T	noncoding	Benign
13	76995062	G	A	G76995062A	CLN5	NM_006493.4(CLN5):c.174-1G>A	noncoding	Pathogenic
13	76995717	C	G	C76995717G	CLN5	NM_006493.4(CLN5):c.340-185C>G	noncoding	Benign
13	76995766	G	A	G76995766A	CLN5	NM_006493.4(CLN5):c.340-136G>A	noncoding	Benign
13	76995966	G	A	G76995966A	CLN5	NM_006493.4(CLN5):c.404G>A:p.Trp135Ter	coding	Pathogenic
13	77000472	C	T	C77000472T	CLN5	NM_006493.4(CLN5):c.580C>T:p.Gln194Ter	coding	Pathogenic
13	77000519	T	G	T77000519G	CLN5	NM_006493.4(CLN5):c.627T>G:p.Tyr209Ter	coding	Pathogenic
13	77000567	G	A	G77000567A	CLN5	NM_006493.4(CLN5):c.675G>A:p.Trp225Ter	coding	Pathogenic/Likely_pathogenic
13	77000685	G	T	G77000685T	CLN5	NM_006493.4(CLN5):c.793G>T:p.Glu265Ter	coding	Pathogenic/Likely_pathogenic
13	77000874	G	T	G77000874T	CLN5	NM_006493.4(CLN5):c.982G>T:p.Glu328Ter	coding	Pathogenic
13	77000879	T	G	T77000879G	CLN5	NM_006493.4(CLN5):c.987T>G:p.Tyr329Ter	coding	Pathogenic
13	77000882	G	A	G77000882A	CLN5	NM_006493.4(CLN5):c.990G>A:p.Trp330Ter	coding	Pathogenic
13	77007681	G	A	G77007681A	FBXL3	NM_012158.4(FBXL3):c.751C>T:p.Arg251Ter	coding	Pathogenic
13	77015590	A	C	A77015590C	FBXL3	NM_012158.4(FBXL3):c.472-10T>G	noncoding	Benign
13	77896654	T	C	T77896654C	EDNRB	NM_001122659.3(EDNRB):c.*1546A>G	coding	Benign/Likely_benign
13	77899858	C	G	C77899858G	EDNRB	NM_001122659.3(EDNRB):c.1194+1G>C	noncoding	Pathogenic
13	77900134	C	T	C77900134T	EDNRB	NM_001122659.3(EDNRB):c.1086-167G>A	noncoding	Benign
13	77900333	A	C	A77900333C	EDNRB	NM_001122659.3(EDNRB):c.1085+188T>G	noncoding	Benign
13	77900355	C	G	C77900355G	EDNRB	NM_001122659.3(EDNRB):c.1085+166G>C	noncoding	Benign
13	77901329	A	G	A77901329G	EDNRB	NM_001122659.3(EDNRB):c.802-122T>C	noncoding	Benign
13	77903179	C	A	C77903179A	EDNRB	NM_001122659.3(EDNRB):c.778G>T:p.Val260Phe	coding	Benign/Likely_benign
13	77903494	C	T	C77903494T	EDNRB	NM_001122659.3(EDNRB):c.596+1G>A	noncoding	Pathogenic
13	77903762	T	C	T77903762C	EDNRB	NM_001122659.3(EDNRB):c.484-155A>G	noncoding	Benign
13	77917916	T	G	T77917916G	EDNRB	NM_001122659.3(EDNRB):c.483+175A>C	noncoding	Benign
13	77918012	C	T	C77918012T	EDNRB	NM_001122659.3(EDNRB):c.483+79G>A	noncoding	Benign
13	77918721	T	C	T77918721C	EDNRB	NM_001122659.3(EDNRB):c.-148A>G	coding	Benign
13	77918896	C	G	C77918896G	EDNRB	NM_000115.5(EDNRB):c.-51-272G>C	noncoding	Benign
13	77919084	A	C	A77919084C	EDNRB	NM_000115.5(EDNRB):c.-51-460T>G	noncoding	Benign
13	78601553	G	A	G78601553A	POU4F1;OBI1-AS1	NM_006237.4(POU4F1):c.1122C>T:p.Phe374=	coding	Benign
13	78601758	T	C	T78601758C	POU4F1	NM_006237.4(POU4F1):c.917A>G:p.Gln306Arg	coding	Pathogenic
13	78601969	C	A	C78601969A	OBI1-AS1;POU4F1	NM_006237.4(POU4F1):c.706G>T:p.Ala236Ser	coding	Benign
13	80336651	C	A	C80336651A	SPRY2	NM_005842.4(SPRY2):c.*107G>T	noncoding	Benign
13	85793742	T	C	T85793742C	SLITRK6	NM_032229.3(SLITRK6):c.*241A>G	noncoding	Benign
13	85795480	A	G	A85795480G	SLITRK6	NM_032229.3(SLITRK6):c.1029T>C:p.Leu343=	coding	Benign/Likely_benign
13	85796692	T	C	T85796692C	SLITRK6	NM_032229.3(SLITRK6):c.-24-160A>G	noncoding	Benign
13	85796797	A	C	A85796797C	SLITRK6	NM_032229.3(SLITRK6):c.-24-265T>G	noncoding	Benign
13	93226778	A	G	A93226778G	GPC6	Single_allele	noncoding	Benign
13	93227552	G	C	G93227552C	GPC6	NM_005708.5(GPC6):c.96G>C:p.Glu32Asp	coding	Benign
13	93544963	G	A	G93544963A	GPC6	NM_005708.5(GPC6):c.161-300G>A	noncoding	Benign
13	93606875	A	G	A93606875G	GPC6	NM_005708.5(GPC6):c.319+61454A>G	noncoding	Benign
13	93631736	C	G	C93631736G	GPC6	NM_005708.5(GPC6):c.319+86315C>G	noncoding	Benign
13	93631738	G	A	G93631738A	GPC6	NM_005708.5(GPC6):c.319+86317G>A	noncoding	Benign
13	93631763	A	G	A93631763G	GPC6	NM_005708.5(GPC6):c.319+86342A>G	noncoding	Benign
13	93631966	G	T	G93631966T	GPC6	NM_005708.5(GPC6):c.319+86545G>T	noncoding	Benign
13	93829971	A	G	A93829971G	GPC6	NM_005708.5(GPC6):c.320-183A>G	noncoding	Benign
13	93830345	C	T	C93830345T	GPC6	NM_005708.5(GPC6):c.511C>T:p.Arg171Trp	coding	Pathogenic
13	93830631	A	C	A93830631C	GPC6	NM_005708.5(GPC6):c.711+86A>C	noncoding	Benign
13	93830771	T	C	T93830771C	GPC6	NM_005708.5(GPC6):c.711+226T>C	noncoding	Benign
13	94286531	A	G	A94286531G	GPC6	NM_005708.5(GPC6):c.1008+52A>G	noncoding	Benign
13	94305846	T	A	T94305846A	GPC6	NM_005708.5(GPC6):c.1009-134T>A	noncoding	Benign
13	94382101	C	G	C94382101G	GPC6	NM_005708.5(GPC6):c.1153-313C>G	noncoding	Benign
13	94382286	T	C	T94382286C	GPC6	NM_005708.5(GPC6):c.1153-128T>C	noncoding	Benign
13	94382565	A	G	A94382565G	GPC6	NM_005708.5(GPC6):c.1289+15A>G	noncoding	Benign
13	94382656	G	T	G94382656T	GPC6	NM_005708.5(GPC6):c.1289+106G>T	noncoding	Benign
13	94382663	G	A	G94382663A	GPC6	NM_005708.5(GPC6):c.1289+113G>A	noncoding	Benign
13	94382783	T	A	T94382783A	GPC6	NM_005708.5(GPC6):c.1289+233T>A	noncoding	Benign
13	94382877	A	T	A94382877T	GPC6	NM_005708.5(GPC6):c.1289+327A>T	noncoding	Benign
13	94398234	A	G	A94398234G	GPC6	NM_005708.5(GPC6):c.1290-232A>G	noncoding	Benign
13	94398517	C	T	C94398517T	GPC6	NM_005708.5(GPC6):c.1341C>T:p.Pro447=	coding	Benign/Likely_benign
13	94440051	C	T	C94440051T	DCT	NM_001922.5(DCT):c.1407G>A:p.Trp469Ter	coding	Pathogenic
13	94462177	G	T	G94462177T	DCT	NM_001922.5(DCT):c.876C>A:p.Tyr292Ter	coding	Pathogenic
13	94479073	G	C	G94479073C	DCT	NM_001922.5(DCT):c.183C>G:p.Cys61Trp	coding	Pathogenic/Likely_pathogenic
13	94479080	C	A	C94479080A	DCT	NM_001922.5(DCT):c.176G>T:p.Gly59Val	coding	Pathogenic
13	94479138	A	T	A94479138T	DCT	NM_001922.5(DCT):c.118T>A:p.Cys40Ser	coding	Pathogenic/Likely_pathogenic
13	94575086	C	T	C94575086T	TGDS	NM_014305.4(TGDS):c.983-234G>A	noncoding	Benign
13	94577443	A	G	A94577443G	TGDS	NM_014305.4(TGDS):c.826-14T>C	noncoding	Benign
13	94577481	A	G	A94577481G	TGDS	NM_014305.4(TGDS):c.826-52T>C	noncoding	Benign
13	94578981	T	C	T94578981C	TGDS	NM_014305.4(TGDS):c.616-208A>G	noncoding	Benign
13	94579727	T	C	T94579727C	TGDS	NM_014305.4(TGDS):c.615+167A>G	noncoding	Benign
13	94581353	G	A	G94581353A	TGDS	NM_014305.4(TGDS):c.457-164C>T	noncoding	Benign
13	94583303	A	G	A94583303G	TGDS	NM_014305.4(TGDS):c.314-67T>C	noncoding	Benign
13	94583372	A	T	A94583372T	TGDS	NM_014305.4(TGDS):c.314-136T>A	noncoding	Benign
13	94591016	G	A	G94591016A	TGDS	NM_014305.4(TGDS):c.223-73C>T	noncoding	Benign
13	94594186	C	T	C94594186T	TGDS	NM_014305.4(TGDS):c.87-279G>A	noncoding	Benign
13	94596035	C	T	C94596035T	TGDS	NM_014305.4(TGDS):c.86+16G>A	coding	Benign
13	94596312	C	T	C94596312T	TGDS	Single_allele	noncoding	Benign
13	94596497	C	T	C94596497T	TGDS	Single_allele	noncoding	Benign
13	94711792	C	G	C94711792G	SOX21	NM_007084.4(SOX21):c.258G>C:p.Leu86=	coding	Benign
13	99983037	C	T	C99983037T	ZIC2	NM_007129.5(ZIC2):c.973C>T:p.Arg325Cys	coding	Pathogenic
13	99983093	C	T	C99983093T	ZIC2	NM_007129.5(ZIC2):c.1029C>T:p.Val343=	coding	Benign
13	99984848	T	C	T99984848C	ZIC2	NM_007129.5(ZIC2):c.1076-98T>C	noncoding	Benign
13	99985939	A	T	A99985939T	ZIC2	NM_007129.5(ZIC2):c.*257A>T	noncoding	Benign
13	99985997	T	G	T99985997G	ZIC2	NM_007129.5(ZIC2):c.*315T>G	noncoding	Benign
13	100102582	C	T	C100102582T	PCCA	NM_000282.4(PCCA):c.106-301C>T	noncoding	Benign
13	100102790	G	A	G100102790A	PCCA	NM_000282.4(PCCA):c.106-93G>A	noncoding	Benign
13	100102904	C	T	C100102904T	PCCA	NM_000282.4(PCCA):c.127C>T:p.Gln43Ter	coding	Pathogenic
13	100111874	G	T	G100111874T	PCCA	NM_000282.4(PCCA):c.217G>T:p.Glu73Ter	coding	Pathogenic
13	100157341	G	A	G100157341A	PCCA	NM_000282.4(PCCA):c.468+1G>A	coding	Pathogenic
13	100157351	A	C	A100157351C	PCCA	NM_000282.4(PCCA):c.468+11A>C	noncoding	Benign/Likely_benign
13	100157391	G	A	G100157391A	PCCA	NM_000282.4(PCCA):c.468+51G>A	noncoding	Benign
13	100235751	G	A	G100235751A	PCCA	NM_000282.4(PCCA):c.601-91G>A	noncoding	Benign
13	100235980	A	G	A100235980G	PCCA	NM_000282.4(PCCA):c.637+102A>G	noncoding	Benign/Likely_benign
13	100262727	A	G	A100262727G	PCCA	NM_000282.4(PCCA):c.717-2A>G	noncoding	Pathogenic/Likely_pathogenic
13	100268593	A	G	A100268593G	PCCA	NM_000282.4(PCCA):c.820-96A>G	noncoding	Benign
13	100268741	C	G	C100268741G	PCCA	NM_000282.4(PCCA):c.872C>G:p.Ser291Ter	coding	Pathogenic
13	100273195	G	C	G100273195C	PCCA	NM_000282.4(PCCA):c.915-1G>C	noncoding	Pathogenic/Likely_pathogenic
13	100301581	T	G	T100301581G	PCCA	NM_000282.4(PCCA):c.1187T>G:p.Val396Gly	coding	Pathogenic
13	100301583	G	T	G100301583T	PCCA	NM_000282.4(PCCA):c.1189G>T:p.Glu397Ter	coding	Pathogenic
13	100301589	C	T	C100301589T	PCCA	NM_000282.4(PCCA):c.1195C>T:p.Arg399Trp	coding	Pathogenic
13	100305776	A	G	A100305776G	PCCA	NM_000282.4(PCCA):c.1285-1416A>G	noncoding	Pathogenic
13	100307219	G	T	G100307219T	PCCA	NM_000282.4(PCCA):c.1312G>T:p.Gly438Ter	coding	Pathogenic
13	100309888	T	G	T100309888G	PCCA	NM_000282.4(PCCA):c.1409T>G:p.Leu470Arg	coding	Pathogenic/Likely_pathogenic
13	100330587	C	T	C100330587T	PCCA	NM_000282.4(PCCA):c.1456C>T:p.Arg486Ter	coding	Pathogenic
13	100330672	G	C	G100330672C	PCCA	NM_000282.4(PCCA):c.1540+1G>C	coding	Pathogenic/Likely_pathogenic
13	100340177	G	T	G100340177T	PCCA	NM_000282.4(PCCA):c.1561G>T:p.Glu521Ter	coding	Pathogenic
13	100368371	A	T	A100368371T	PCCA	NM_000282.4(PCCA):c.1644-101A>T	noncoding	Benign
13	100368388	T	C	T100368388C	PCCA	NM_000282.4(PCCA):c.1644-84T>C	noncoding	Benign
13	100368575	G	A	G100368575A	PCCA	NM_000282.4(PCCA):c.1746+1G>A	coding	Pathogenic
13	100368822	G	A	G100368822A	PCCA	NM_000282.4(PCCA):c.1746+248G>A	noncoding	Benign
13	100425717	C	T	C100425717T	PCCA	NM_000282.4(PCCA):c.1831C>T:p.Gln611Ter	coding	Pathogenic
13	100515681	G	C	G100515681C	PCCA	NM_000282.4(PCCA):c.2040+114G>C	noncoding	Benign
13	100515685	C	T	C100515685T	PCCA	NM_000282.4(PCCA):c.2040+118C>T	noncoding	Benign
13	100527690	G	T	G100527690T	PCCA	NM_000282.4(PCCA):c.2056G>T:p.Glu686Ter	coding	Pathogenic/Likely_pathogenic
13	100530089	A	G	A100530089G	PCCA	NM_000282.4(PCCA):c.2119-9A>G	noncoding	Pathogenic/Likely_pathogenic
13	101055744	A	T	A101055744T	NALCN	NM_052867.4(NALCN):c.5024-256T>A	noncoding	Benign
13	101057671	G	T	G101057671T	NALCN	NM_052867.4(NALCN):c.5023+268C>A	noncoding	Benign
13	101060074	G	T	G101060074T	NALCN	NM_052867.4(NALCN):c.4756-107C>A	noncoding	Benign
13	101060222	A	G	A101060222G	NALCN	NM_052867.4(NALCN):c.4756-255T>C	noncoding	Benign
13	101061702	T	C	T101061702C	NALCN	NM_052867.4(NALCN):c.4755+266A>G	noncoding	Benign
13	101061819	A	G	A101061819G	NALCN	NM_052867.4(NALCN):c.4755+149T>C	noncoding	Benign
13	101061967	C	A	C101061967A	NALCN	NM_052867.4(NALCN):c.4755+1G>T	noncoding	Pathogenic/Likely_pathogenic
13	101062069	C	T	C101062069T	NALCN	NM_052867.4(NALCN):c.4654G>A:p.Glu1552Lys	coding	Pathogenic
13	101062393	A	G	A101062393G	NALCN	NM_052867.4(NALCN):c.4605-275T>C	noncoding	Benign
13	101065236	G	A	G101065236A	NALCN	NM_052867.4(NALCN):c.4604+168C>T	noncoding	Benign
13	101065813	G	A	G101065813A	NALCN	NM_052867.4(NALCN):c.4447-252C>T	noncoding	Benign
13	101065886	C	G	C101065886G	NALCN	NM_052867.4(NALCN):c.4447-325G>C	noncoding	Benign
13	101068135	T	A	T101068135A	NALCN	NM_052867.4(NALCN):c.4331-102A>T	noncoding	Benign
13	101068209	T	C	T101068209C	NALCN	NM_052867.4(NALCN):c.4331-176A>G	noncoding	Benign
13	101068442	A	G	A101068442G	NALCN	NM_052867.4(NALCN):c.4330+253T>C	noncoding	Benign
13	101073528	C	T	C101073528T	NALCN	NM_052867.4(NALCN):c.4197+56G>A	noncoding	Benign
13	101073711	A	G	A101073711G	NALCN	NM_052867.4(NALCN):c.4104-34T>C	noncoding	Benign
13	101073793	C	T	C101073793T	NALCN	NM_052867.4(NALCN):c.4104-116G>A	noncoding	Benign
13	101073961	C	T	C101073961T	NALCN	NM_052867.4(NALCN):c.4104-284G>A	noncoding	Benign
13	101074234	A	G	A101074234G	NALCN	NM_052867.4(NALCN):c.4103+280T>C	noncoding	Benign
13	101076249	A	G	A101076249G	NALCN	NM_052867.4(NALCN):c.3886-308T>C	noncoding	Benign
13	101081297	G	A	G101081297A	NALCN	NM_052867.4(NALCN):c.3885+230C>T	noncoding	Benign
13	101082675	T	A	T101082675A	NALCN	NM_052867.4(NALCN):c.3765+134A>T	noncoding	Benign
13	101083330	G	T	G101083330T	NALCN	NM_052867.4(NALCN):c.3584-132C>A	noncoding	Benign
13	101083741	C	T	C101083741T	NALCN	NM_052867.4(NALCN):c.3553G>A:p.Ala1185Thr	coding	Pathogenic
13	101083973	C	T	C101083973T	NALCN	NM_052867.4(NALCN):c.3490-169G>A	noncoding	Benign
13	101089890	C	A	C101089890A	NALCN	NM_052867.4(NALCN):c.3346G>T:p.Gly1116Cys	coding	Benign
13	101095370	T	C	T101095370C	NALCN	NM_052867.4(NALCN):c.3269+204A>G	noncoding	Benign
13	101095527	C	T	C101095527T	NALCN	NM_052867.4(NALCN):c.3269+47G>A	noncoding	Benign
13	101095541	A	G	A101095541G	NALCN	NM_052867.4(NALCN):c.3269+33T>C	noncoding	Benign
13	101095770	G	A	G101095770A	NALCN	NM_052867.4(NALCN):c.3163-90C>T	noncoding	Benign
13	101100888	C	T	C101100888T	NALCN	NM_052867.4(NALCN):c.3058G>A:p.Val1020Ile	coding	Pathogenic
13	101101009	G	T	G101101009T	NALCN	NM_052867.4(NALCN):c.3058-121C>A	noncoding	Benign
13	101102934	G	C	G101102934C	NALCN	NM_052867.4(NALCN):c.3057+238C>G	noncoding	Benign
13	101103129	G	T	G101103129T	NALCN	NM_052867.4(NALCN):c.3057+43C>A	noncoding	Benign
13	101103462	C	A	C101103462A	NALCN	NM_052867.4(NALCN):c.2890-123G>T	noncoding	Benign
13	101104685	G	T	G101104685T	NALCN	NM_052867.4(NALCN):c.2637-35C>A	noncoding	Benign
13	101107184	C	T	C101107184T	NALCN	NM_052867.4(NALCN):c.2579+303G>A	noncoding	Benign
13	101107873	A	G	A101107873G	NALCN	NM_052867.4(NALCN):c.2365-84T>C	noncoding	Benign
13	101107946	T	C	T101107946C	NALCN	NM_052867.4(NALCN):c.2365-157A>G	noncoding	Benign
13	101111355	G	A	G101111355A	NALCN	NM_052867.4(NALCN):c.2193-129C>T	noncoding	Benign
13	101124928	G	A	G101124928A	NALCN	NM_052867.4(NALCN):c.2119-247C>T	noncoding	Benign
13	101142809	C	A	C101142809A	NALCN	NM_052867.4(NALCN):c.2118+271G>T	noncoding	Benign
13	101142893	C	A	C101142893A	NALCN	NM_052867.4(NALCN):c.2118+187G>T	noncoding	Benign
13	101142966	A	C	A101142966C	NALCN	NM_052867.4(NALCN):c.2118+114T>G	noncoding	Benign
13	101143022	C	A	C101143022A	NALCN	NM_052867.4(NALCN):c.2118+58G>T	noncoding	Benign
13	101143450	C	T	C101143450T	NALCN	NM_052867.4(NALCN):c.1977-229G>A	noncoding	Benign
13	101144921	A	G	A101144921G	NALCN	NM_052867.4(NALCN):c.1840-25T>C	noncoding	Benign
13	101145123	C	T	C101145123T	NALCN	NM_052867.4(NALCN):c.1840-227G>A	noncoding	Benign
13	101176268	T	C	T101176268C	NALCN	NM_052867.4(NALCN):c.1839+32A>G	noncoding	Benign
13	101176350	C	T	C101176350T	NALCN	NM_052867.4(NALCN):c.1789G>A:p.Val597Ile	coding	Pathogenic
13	101176545	A	C	A101176545C	NALCN	NM_052867.4(NALCN):c.1765-171T>G	noncoding	Benign
13	101191598	G	A	G101191598A	NALCN	NM_052867.4(NALCN):c.1764+319C>T	noncoding	Benign
13	101191623	G	A	G101191623A	NALCN	NM_052867.4(NALCN):c.1764+294C>T	noncoding	Benign
13	101191773	T	C	T101191773C	NALCN	NM_052867.4(NALCN):c.1764+144A>G	noncoding	Benign
13	101192128	T	C	T101192128C	NALCN	NM_052867.4(NALCN):c.1627-74A>G	noncoding	Benign
13	101229830	C	T	C101229830T	NALCN	NM_052867.4(NALCN):c.1435-246G>A	noncoding	Benign
13	101229879	G	A	G101229879A	NALCN	NM_052867.4(NALCN):c.1435-295C>T	noncoding	Benign
13	101237532	T	C	T101237532C	NALCN	NM_052867.4(NALCN):c.1434+223A>G	noncoding	Benign
13	101237629	T	C	T101237629C	NALCN	NM_052867.4(NALCN):c.1434+126A>G	noncoding	Benign
13	101237689	A	G	A101237689G	NALCN	NM_052867.4(NALCN):c.1434+66T>C	noncoding	Benign
13	101237876	C	T	C101237876T	NALCN	NM_052867.4(NALCN):c.1313G>A:p.Trp438Ter	coding	Pathogenic
13	101238084	T	C	T101238084C	NALCN	NM_052867.4(NALCN):c.1267-162A>G	noncoding	Benign
13	101238140	T	C	T101238140C	NALCN	NM_052867.4(NALCN):c.1267-218A>G	noncoding	Benign
13	101258266	G	A	G101258266A	NALCN	NM_052867.4(NALCN):c.1266+177C>T	noncoding	Benign
13	101258585	G	A	G101258585A	NALCN	NM_052867.4(NALCN):c.1135-11C>T	noncoding	Benign
13	101283670	T	C	T101283670C	NALCN	NM_052867.4(NALCN):c.1134+263A>G	noncoding	Benign
13	101283757	T	G	T101283757G	NALCN	NM_052867.4(NALCN):c.1134+176A>C	noncoding	Benign
13	101283911	T	C	T101283911C	NALCN	NM_052867.4(NALCN):c.1134+22A>G	noncoding	Benign
13	101284272	A	C	A101284272C	NALCN	NM_052867.4(NALCN):c.1048-253T>G	noncoding	Benign
13	101291854	A	C	A101291854C	NALCN	NM_052867.4(NALCN):c.1047+136T>G	noncoding	Benign
13	101292401	C	T	C101292401T	NALCN	NM_052867.4(NALCN):c.800-35G>A	noncoding	Benign
13	101292458	T	C	T101292458C	NALCN	NM_052867.4(NALCN):c.800-92A>G	noncoding	Benign
13	101292605	C	T	C101292605T	NALCN	NM_052867.4(NALCN):c.800-239G>A	noncoding	Benign
13	101292665	T	C	T101292665C	NALCN	NM_052867.4(NALCN):c.800-299A>G	noncoding	Benign
13	101345005	T	C	T101345005C	NALCN	NM_052867.4(NALCN):c.799+261A>G	noncoding	Benign
13	101345047	C	T	C101345047T	NALCN	NM_052867.4(NALCN):c.799+219G>A	noncoding	Benign
13	101345103	G	A	G101345103A	NALCN	NM_052867.4(NALCN):c.799+163C>T	noncoding	Benign
13	101376409	T	C	T101376409C	NALCN	NM_052867.4(NALCN):c.644+291A>G	noncoding	Benign
13	101376547	C	T	C101376547T	NALCN	NM_052867.4(NALCN):c.644+153G>A	noncoding	Benign
13	101376978	G	A	G101376978A	NALCN	NM_052867.4(NALCN):c.454C>T:p.Arg152Ter	coding	Pathogenic
13	101377277	A	G	A101377277G	NALCN	NM_052867.4(NALCN):c.376-221T>C	noncoding	Benign
13	101377293	G	A	G101377293A	NALCN	NM_052867.4(NALCN):c.376-237C>T	noncoding	Benign
13	101377307	T	A	T101377307A	NALCN	NM_052867.4(NALCN):c.376-251A>T	noncoding	Benign
13	101378411	C	T	C101378411T	NALCN	NM_052867.4(NALCN):c.375+159G>A	noncoding	Benign
13	101378486	G	A	G101378486A	NALCN	NM_052867.4(NALCN):c.375+84C>T	noncoding	Benign
13	101395478	G	A	G101395478A	NALCN	NM_052867.4(NALCN):c.109-113C>T	noncoding	Benign
13	101398739	A	G	A101398739G	NALCN	NM_052867.4(NALCN):c.108+280T>C	noncoding	Benign
13	101398927	T	A	T101398927A	NALCN	NM_052867.4(NALCN):c.108+92A>T	noncoding	Benign
13	101399210	C	T	C101399210T	NALCN	NM_052867.4(NALCN):c.-39-45G>A	noncoding	Benign
13	101726780	C	A	C101726780A	FGF14	NM_004115.4(FGF14):c.439G>T:p.Glu147Ter	coding	Pathogenic
13	101916210	A	G	A101916210G	FGF14	NM_004115.4(FGF14):c.193+243T>C	noncoding	Benign
13	101916335	G	A	G101916335A	FGF14	NM_004115.4(FGF14):c.193+118C>T	noncoding	Benign
13	101916351	G	A	G101916351A	FGF14	NM_004115.4(FGF14):c.193+102C>T	noncoding	Benign
13	101916757	G	A	G101916757A	FGF14	NM_004115.4(FGF14):c.-112C>T	noncoding	Benign
13	101916782	G	T	G101916782T	FGF14	NM_004115.4(FGF14):c.-137C>A	noncoding	Benign
13	101916792	G	C	G101916792C	FGF14	NM_004115.4(FGF14):c.-147C>G	noncoding	Benign
13	101916891	C	G	C101916891G	FGF14	NM_004115.4(FGF14):c.-246G>C	noncoding	Benign
13	102220708	A	G	A102220708G	FGF14	NM_175929.3(FGF14):c.208+180763T>C	noncoding	Benign
13	102401930	A	C	A102401930C	FGF14	NM_175929.3(FGF14):c.-252T>G	noncoding	Benign
13	102616488	C	T	C102616488T	TPP2	NM_001330588.2(TPP2):c.483C>T:p.Asn161=	coding	Benign
13	102618856	G	A	G102618856A	TPP2	NM_001330588.2(TPP2):c.620+10G>A	noncoding	Benign
13	102623036	T	C	T102623036C	TPP2	NM_001330588.2(TPP2):c.780T>C:p.Ser260=	coding	Benign
13	102633930	T	A	T102633930A	TPP2	NM_001330588.2(TPP2):c.1245-20T>A	noncoding	Benign
13	102635645	C	T	C102635645T	TPP2	NM_001330588.2(TPP2):c.1452C>T:p.Asn484=	coding	Benign
13	102635692	G	A	G102635692A	TPP2	NM_001330588.2(TPP2):c.1499G>A:p.Gly500Asp	coding	Pathogenic
13	102638224	G	A	G102638224A	TPP2	NM_001330588.2(TPP2):c.1837-15G>A	noncoding	Benign
13	102644959	C	G	C102644959G	TPP2	NM_001330588.2(TPP2):c.2343C>G:p.Tyr781Ter	coding	Pathogenic
13	102646320	T	G	T102646320G	TPP2	NM_001330588.2(TPP2):c.2420T>G:p.Leu807Ter	coding	Pathogenic
13	102663763	G	A	G102663763A	TPP2	NM_001330588.2(TPP2):c.3240+19G>A	noncoding	Benign
13	102676310	A	G	A102676310G	TPP2	NM_001330588.2(TPP2):c.3594A>G:p.Ala1198=	coding	Benign
13	102807511	A	G	A102807511G	BIVM	NM_017693.4(BIVM):c.244A>G:p.Ile82Val	coding	Benign
13	102845721	C	T	C102845721T	ERCC5	NM_001204425.2(BIVM-ERCC5):c.1450+5918C>T	noncoding	Benign
13	102845821	G	C	G102845821C	ERCC5	NM_001204425.2(BIVM-ERCC5):c.1450+6018G>C	noncoding	Benign
13	102845830	C	A	C102845830A	ERCC5	NM_001204425.2(BIVM-ERCC5):c.1450+6027C>A	noncoding	Benign/Likely_benign
13	102851963	G	T	G102851963T	ERCC5	NM_000123.4(ERCC5):c.89-155G>T	noncoding	Benign
13	102851994	A	G	A102851994G	ERCC5	NM_000123.4(ERCC5):c.89-124A>G	noncoding	Benign
13	102854089	G	A	G102854089A	ERCC5	NM_000123.4(ERCC5):c.381-199G>A	noncoding	Benign
13	102854159	A	C	A102854159C	ERCC5	NM_000123.4(ERCC5):c.381-129A>C	noncoding	Benign
13	102855745	G	A	G102855745A	ERCC5	NM_000123.4(ERCC5):c.468-307G>A	noncoding	Benign
13	102857996	C	T	C102857996T	ERCC5	NM_000123.4(ERCC5):c.529-279C>T	noncoding	Benign
13	102858533	A	C	A102858533C	ERCC5	NM_000123.4(ERCC5):c.672+115A>C	noncoding	Benign
13	102858546	C	T	C102858546T	ERCC5	NM_000123.4(ERCC5):c.672+128C>T	noncoding	Benign
13	102858647	T	C	T102858647C	ERCC5	NM_000123.4(ERCC5):c.672+229T>C	noncoding	Benign
13	102861505	A	G	A102861505G	ERCC5	NM_000123.4(ERCC5):c.673-2A>G	noncoding	Pathogenic
13	102861741	T	C	T102861741C	ERCC5	NM_000123.4(ERCC5):c.880+27T>C	noncoding	Benign
13	102863004	C	T	C102863004T	ERCC5	NM_000123.4(ERCC5):c.1855C>T:p.Gln619Ter	coding	Pathogenic
13	102863211	C	G	C102863211G	ERCC5	NM_000123.4(ERCC5):c.1954+108C>G	noncoding	Benign
13	102863211	C	T	C102863211T	ERCC5	NM_000123.4(ERCC5):c.1954+108C>T	noncoding	Benign
13	102866494	C	T	C102866494T	ERCC5	NM_000123.4(ERCC5):c.2319+113C>T	noncoding	Benign
13	102866901	C	T	C102866901T	ERCC5	NM_000123.4(ERCC5):c.2533+56C>T	noncoding	Benign
13	102867120	G	A	G102867120A	ERCC5	NM_000123.4(ERCC5):c.2533+275G>A	noncoding	Benign
13	102867842	A	G	A102867842G	ERCC5	NM_000123.4(ERCC5):c.2534-271A>G	noncoding	Benign
13	102867901	T	C	T102867901C	ERCC5	NM_000123.4(ERCC5):c.2534-212T>C	noncoding	Benign
13	102868348	G	A	G102868348A	ERCC5	NM_000123.4(ERCC5):c.2678+91G>A	noncoding	Benign
13	102868414	G	A	G102868414A	ERCC5	NM_000123.4(ERCC5):c.2678+157G>A	noncoding	Benign
13	102871999	G	A	G102871999A	ERCC5	NM_000123.4(ERCC5):c.2679-199G>A	noncoding	Benign
13	102872082	G	A	G102872082A	ERCC5	NM_000123.4(ERCC5):c.2679-116G>A	noncoding	Benign
13	102872604	A	C	A102872604C	ERCC5	NM_000123.4(ERCC5):c.2879+206A>C	noncoding	Benign
13	102875178	A	C	A102875178C	ERCC5	NM_000123.4(ERCC5):c.2965-129A>C	noncoding	Benign
13	102875580	G	C	G102875580C	ERCC5	NM_000123.4(ERCC5):c.3238G>C:p.Gly1080Arg	coding	Benign
13	103046280	C	T	C103046280T	SLC10A2	NM_000452.3(SLC10A2):c.920-20G>A	noncoding	Benign
13	103051229	T	C	T103051229C	SLC10A2	NM_000452.3(SLC10A2):c.761+28A>G	noncoding	Benign
13	103065932	G	T	G103065932T	SLC10A2	NM_000452.3(SLC10A2):c.318C>A:p.Cys106Ter	coding	Pathogenic
13	108209175	G	C	G108209175C	LIG4	NM_206937.2(LIG4):c.2094C>G:p.Tyr698Ter	coding	Pathogenic/Likely_pathogenic
13	108209796	G	C	G108209796C	LIG4	NM_206937.2(LIG4):c.1473C>G:p.Pro491=	coding	Benign/Likely_benign
13	108210424	T	A	T108210424A	LIG4	NM_206937.2(LIG4):c.845A>T:p.His282Leu	coding	Pathogenic
13	108211196	G	A	G108211196A	LIG4	NM_206937.2(LIG4):c.73C>T:p.Arg25Ter	coding	Pathogenic
13	108211333	A	G	A108211333G	LIG4	NM_206937.2(LIG4):c.-28-37T>C	noncoding	Benign
13	108211590	G	A	G108211590A	LIG4	NM_206937.2(LIG4):c.-28-294C>T	noncoding	Benign
13	108303116	C	G	C108303116G	TNFSF13B	NM_006573.5(TNFSF13B):c.482-137C>G	noncoding	Benign
13	108303821	T	A	T108303821A	TNFSF13B	NM_006573.5(TNFSF13B):c.745+217T>A	noncoding	Benign
13	110150328	G	T	G110150328T	COL4A1	NM_001845.6(COL4A1):c.*35C>A	noncoding	Pathogenic
13	110150331	C	A	C110150331A	COL4A1	NM_001845.6(COL4A1):c.*32G>T	noncoding	Pathogenic
13	110150332	C	A	C110150332A	COL4A1	NM_001845.6(COL4A1):c.*31G>T	noncoding	Pathogenic
13	110152108	G	A	G110152108A	COL4A1	NM_001845.6(COL4A1):c.4928+226C>T	noncoding	Benign
13	110152266	C	T	C110152266T	COL4A1	NM_001845.6(COL4A1):c.4928+68G>A	noncoding	Benign
13	110152375	G	C	G110152375C	COL4A1	NM_001845.6(COL4A1):c.4887C>G:p.Tyr1629Ter	coding	Pathogenic
13	110152520	G	A	G110152520A	COL4A1	NM_001845.6(COL4A1):c.4756-14C>T	noncoding	Benign
13	110152715	G	A	G110152715A	COL4A1	NM_001845.6(COL4A1):c.4756-209C>T	noncoding	Benign
13	110155113	G	A	G110155113A	COL4A1	NM_001845.6(COL4A1):c.4755+170C>T	noncoding	Benign
13	110155127	T	C	T110155127C	COL4A1	NM_001845.6(COL4A1):c.4755+156A>G	noncoding	Benign
13	110155149	T	C	T110155149C	COL4A1	NM_001845.6(COL4A1):c.4755+134A>G	noncoding	Benign
13	110155223	C	G	C110155223G	COL4A1	NM_001845.6(COL4A1):c.4755+60G>C	noncoding	Benign
13	110155265	G	A	G110155265A	COL4A1	NM_001845.6(COL4A1):c.4755+18C>T	noncoding	Benign
13	110155429	C	T	C110155429T	COL4A1	NM_001845.6(COL4A1):c.4641-32G>A	noncoding	Benign
13	110160892	G	A	G110160892A	COL4A1	NM_001845.6(COL4A1):c.4640+300C>T	noncoding	Benign
13	110160898	G	A	G110160898A	COL4A1	NM_001845.6(COL4A1):c.4640+294C>T	noncoding	Benign
13	110161141	G	A	G110161141A	COL4A1	NM_001845.6(COL4A1):c.4640+51C>T	noncoding	Benign
13	110161286	G	A	G110161286A	COL4A1	NM_001845.6(COL4A1):c.4546C>T:p.Arg1516Ter	coding	Pathogenic/Likely_pathogenic
13	110161644	C	A	C110161644A	COL4A1	NM_001845.6(COL4A1):c.4463-275G>T	noncoding	Benign
13	110161993	T	C	T110161993C	COL4A1	NM_001845.6(COL4A1):c.4462+237A>G	noncoding	Benign
13	110162079	G	A	G110162079A	COL4A1	NM_001845.6(COL4A1):c.4462+151C>T	noncoding	Benign
13	110162284	C	T	C110162284T	COL4A1	NM_001845.6(COL4A1):c.4408G>A:p.Gly1470Arg	coding	Pathogenic
13	110162443	C	T	C110162443T	COL4A1	NM_001845.6(COL4A1):c.4250-1G>A	coding	Pathogenic/Likely_pathogenic
13	110162485	G	A	G110162485A	COL4A1	NM_001845.6(COL4A1):c.4250-43C>T	noncoding	Benign
13	110162576	A	G	A110162576G	COL4A1	NM_001845.6(COL4A1):c.4250-134T>C	noncoding	Benign
13	110163326	C	G	C110163326G	COL4A1	NM_001845.6(COL4A1):c.4249+137G>C	noncoding	Benign
13	110163581	A	G	A110163581G	COL4A1	NM_001845.6(COL4A1):c.4151-20T>C	noncoding	Benign
13	110163750	G	C	G110163750C	COL4A1	NM_001845.6(COL4A1):c.4151-189C>G	noncoding	Benign
13	110163796	C	T	C110163796T	COL4A1	NM_001845.6(COL4A1):c.4151-235G>A	noncoding	Benign
13	110164560	G	A	G110164560A	COL4A1	NM_001845.6(COL4A1):c.4150+302C>T	noncoding	Benign
13	110164824	G	C	G110164824C	COL4A1	NM_001845.6(COL4A1):c.4150+38C>G	noncoding	Benign
13	110164861	C	T	C110164861T	COL4A1	NM_001845.6(COL4A1):c.4150+1G>A	noncoding	Pathogenic
13	110164898	C	G	C110164898G	COL4A1	NM_001845.6(COL4A1):c.4114G>C:p.Gly1372Arg	coding	Pathogenic
13	110165294	A	G	A110165294G	COL4A1	NM_001845.6(COL4A1):c.4022-304T>C	noncoding	Benign
13	110165318	A	G	A110165318G	COL4A1	NM_001845.6(COL4A1):c.4022-328T>C	noncoding	Benign
13	110165501	T	G	T110165501G	COL4A1	NM_001845.6(COL4A1):c.4022-511A>C	noncoding	Benign
13	110165985	C	G	C110165985G	COL4A1	NM_001845.6(COL4A1):c.4021+247G>C	noncoding	Benign
13	110166381	T	C	T110166381C	COL4A1	NM_001845.6(COL4A1):c.3950-78A>G	noncoding	Benign
13	110167015	A	G	A110167015G	COL4A1	NM_001845.6(COL4A1):c.3949+143T>C	noncoding	Benign
13	110167110	A	G	A110167110G	COL4A1	NM_001845.6(COL4A1):c.3949+48T>C	noncoding	Benign
13	110167113	G	A	G110167113A	COL4A1	NM_001845.6(COL4A1):c.3949+45C>T	noncoding	Benign
13	110167161	G	C	G110167161C	COL4A1	NM_001845.6(COL4A1):c.3946C>G:p.Gln1316Glu	coding	Benign/Likely_benign
13	110167260	G	T	G110167260T	COL4A1	NM_001845.6(COL4A1):c.3877-30C>A	noncoding	Benign
13	110167507	T	C	T110167507C	COL4A1	NM_001845.6(COL4A1):c.3877-277A>G	noncoding	Benign
13	110169487	G	A	G110169487A	COL4A1	NM_001845.6(COL4A1):c.3876+142C>T	noncoding	Benign
13	110169527	T	C	T110169527C	COL4A1	NM_001845.6(COL4A1):c.3876+102A>G	noncoding	Benign
13	110169744	C	T	C110169744T	COL4A1	NM_001845.6(COL4A1):c.3761G>A:p.Gly1254Glu	coding	Pathogenic
13	110170546	C	T	C110170546T	COL4A1	NM_001845.6(COL4A1):c.3742+1G>A	noncoding	Pathogenic
13	110170582	C	A	C110170582A	COL4A1	NM_001845.6(COL4A1):c.3707G>T:p.Gly1236Val	coding	Pathogenic
13	110170634	C	A	C110170634A	COL4A1	NM_001845.6(COL4A1):c.3655G>T:p.Gly1219Ter	coding	Pathogenic
13	110170669	C	T	C110170669T	COL4A1	NM_001845.6(COL4A1):c.3620G>A:p.Gly1207Glu	coding	Pathogenic
13	110170697	C	T	C110170697T	COL4A1	NM_001845.6(COL4A1):c.3592G>A:p.Gly1198Arg	coding	Pathogenic
13	110170831	G	A	G110170831A	COL4A1	NM_001845.6(COL4A1):c.3557-99C>T	noncoding	Benign
13	110170935	T	C	T110170935C	COL4A1	NM_001845.6(COL4A1):c.3557-203A>G	noncoding	Benign
13	110170993	G	A	G110170993A	COL4A1	NM_001845.6(COL4A1):c.3557-261C>T	noncoding	Benign
13	110171040	T	G	T110171040G	COL4A1	NM_001845.6(COL4A1):c.3557-308A>C	noncoding	Benign
13	110172476	C	T	C110172476T	COL4A1	NM_001845.6(COL4A1):c.3556+244G>A	noncoding	Benign
13	110172627	C	G	C110172627G	COL4A1	NM_001845.6(COL4A1):c.3556+93G>C	noncoding	Benign
13	110172917	G	T	G110172917T	COL4A1	NM_001845.6(COL4A1):c.3506-147C>A	noncoding	Benign
13	110172927	C	T	C110172927T	COL4A1	NM_001845.6(COL4A1):c.3506-157G>A	noncoding	Benign
13	110172981	A	G	A110172981G	COL4A1	NM_001845.6(COL4A1):c.3506-211T>C	noncoding	Benign
13	110172983	C	T	C110172983T	COL4A1	NM_001845.6(COL4A1):c.3506-213G>A	noncoding	Benign
13	110174046	C	T	C110174046T	COL4A1	NM_001845.6(COL4A1):c.3407-48G>A	noncoding	Benign
13	110174052	C	T	C110174052T	COL4A1	NM_001845.6(COL4A1):c.3407-54G>A	noncoding	Benign
13	110174324	G	A	G110174324A	COL4A1	NM_001845.6(COL4A1):c.3406+122C>T	noncoding	Benign
13	110174703	C	A	C110174703A	COL4A1	NM_001845.6(COL4A1):c.3245G>T:p.Gly1082Val	coding	Pathogenic
13	110174740	C	T	C110174740T	COL4A1	NM_001845.6(COL4A1):c.3208G>A:p.Gly1070Arg	coding	Pathogenic
13	110174956	T	C	T110174956C	COL4A1	NM_001845.6(COL4A1):c.3199-207A>G	noncoding	Benign
13	110174971	T	C	T110174971C	COL4A1	NM_001845.6(COL4A1):c.3199-222A>G	noncoding	Benign
13	110175041	C	G	C110175041G	COL4A1	NM_001845.6(COL4A1):c.3198+177G>C	noncoding	Benign
13	110175048	G	C	G110175048C	COL4A1	NM_001845.6(COL4A1):c.3198+170C>G	noncoding	Benign
13	110175229	G	A	G110175229A	COL4A1	NM_001845.6(COL4A1):c.3187C>T:p.Arg1063Ter	coding	Pathogenic
13	110175304	C	T	C110175304T	COL4A1	NM_001845.6(COL4A1):c.3112G>A:p.Gly1038Ser	coding	Pathogenic
13	110175394	A	T	A110175394T	COL4A1	NM_001845.6(COL4A1):c.3059-37T>A	noncoding	Benign
13	110175490	T	C	T110175490C	COL4A1	NM_001845.6(COL4A1):c.3059-133A>G	noncoding	Benign
13	110175568	C	T	C110175568T	COL4A1	NM_001845.6(COL4A1):c.3059-211G>A	noncoding	Benign
13	110176544	T	C	T110176544C	COL4A1	NM_001845.6(COL4A1):c.2969-31A>G	noncoding	Benign
13	110176575	G	A	G110176575A	COL4A1	NM_001845.6(COL4A1):c.2968+51C>T	noncoding	Benign
13	110176724	C	T	C110176724T	COL4A1	NM_001845.6(COL4A1):c.2870G>A:p.Gly957Glu	coding	Pathogenic
13	110176983	C	T	C110176983T	COL4A1	NM_001845.6(COL4A1):c.2771G>A:p.Gly924Asp	coding	Pathogenic
13	110177582	C	A	C110177582A	COL4A1	NM_001845.6(COL4A1):c.2716+260G>T	noncoding	Benign
13	110177743	G	A	G110177743A	COL4A1	NM_001845.6(COL4A1):c.2716+99C>T	noncoding	Benign
13	110177868	C	A	C110177868A	COL4A1	NM_001845.6(COL4A1):c.2690G>T:p.Gly897Val	coding	Pathogenic
13	110178082	C	T	C110178082T	COL4A1	NM_001845.6(COL4A1):c.2608G>A:p.Gly870Arg	coding	Pathogenic
13	110178491	G	A	G110178491A	COL4A1	NM_001845.6(COL4A1):c.2459-260C>T	noncoding	Benign
13	110178921	A	G	A110178921G	COL4A1	NM_001845.6(COL4A1):c.2458+2T>C	noncoding	Pathogenic
13	110178922	C	G	C110178922G	COL4A1	NM_001845.6(COL4A1):c.2458+1G>C	noncoding	Pathogenic
13	110178922	C	T	C110178922T	COL4A1	NM_001845.6(COL4A1):c.2458+1G>A	noncoding	Pathogenic
13	110179038	T	C	T110179038C	COL4A1	NM_001845.6(COL4A1):c.2345-2A>G	noncoding	Pathogenic
13	110179104	T	C	T110179104C	COL4A1	NM_001845.6(COL4A1):c.2345-68A>G	noncoding	Benign
13	110179167	C	G	C110179167G	COL4A1	NM_001845.6(COL4A1):c.2344+104G>C	noncoding	Benign
13	110179490	G	A	G110179490A	COL4A1	NM_001845.6(COL4A1):c.2194-69C>T	noncoding	Benign
13	110179519	T	C	T110179519C	COL4A1	NM_001845.6(COL4A1):c.2194-98A>G	noncoding	Benign
13	110181024	G	C	G110181024C	COL4A1	NM_001845.6(COL4A1):c.2193+268C>G	noncoding	Benign
13	110181217	C	T	C110181217T	COL4A1	NM_001845.6(COL4A1):c.2193+75G>A	noncoding	Benign
13	110181338	G	A	G110181338A	COL4A1	NM_001845.6(COL4A1):c.2147C>T:p.Pro716Leu	coding	Benign
13	110181341	C	T	C110181341T	COL4A1	NM_001845.6(COL4A1):c.2144G>A:p.Arg715His	coding	Benign
13	110181413	A	C	A110181413C	COL4A1	NM_001845.6(COL4A1):c.2096-24T>G	noncoding	Benign
13	110181552	T	C	T110181552C	COL4A1	NM_001845.6(COL4A1):c.2096-163A>G	noncoding	Benign
13	110181658	T	C	T110181658C	COL4A1	NM_001845.6(COL4A1):c.2096-269A>G	noncoding	Benign
13	110182702	C	T	C110182702T	COL4A1	NM_001845.6(COL4A1):c.2095+291G>A	noncoding	Benign
13	110182848	C	A	C110182848A	COL4A1	NM_001845.6(COL4A1):c.2095+145G>T	noncoding	Benign
13	110186299	A	G	A110186299G	COL4A1	NM_001845.6(COL4A1):c.1897+86T>C	noncoding	Benign
13	110186356	T	C	T110186356C	COL4A1	NM_001845.6(COL4A1):c.1897+29A>G	noncoding	Benign
13	110186412	C	A	C110186412A	COL4A1	NM_001845.6(COL4A1):c.1870G>T:p.Gly624Ter	coding	Pathogenic
13	110187081	A	G	A110187081G	COL4A1	NM_001845.6(COL4A1):c.1728+57T>C	noncoding	Benign
13	110187236	C	T	C110187236T	COL4A1	NM_001845.6(COL4A1):c.1630G>A:p.Gly544Arg	coding	Pathogenic
13	110187321	T	A	T110187321A	COL4A1	NM_001845.6(COL4A1):c.1545A>T:p.Gln515His	coding	Benign
13	110191963	G	A	G110191963A	COL4A1	NM_001845.6(COL4A1):c.1536+251C>T	noncoding	Benign
13	110192216	G	A	G110192216A	COL4A1	NM_001845.6(COL4A1):c.1534C>T:p.Pro512Ser	coding	Benign
13	110192374	C	T	C110192374T	COL4A1	NM_001845.6(COL4A1):c.1466-90G>A	noncoding	Benign
13	110192649	A	G	A110192649G	COL4A1	NM_001845.6(COL4A1):c.1465+181T>C	noncoding	Benign
13	110192696	A	G	A110192696G	COL4A1	NM_001845.6(COL4A1):c.1465+134T>C	noncoding	Benign
13	110192713	G	A	G110192713A	COL4A1	NM_001845.6(COL4A1):c.1465+117C>T	noncoding	Benign
13	110192730	C	T	C110192730T	COL4A1	NM_001845.6(COL4A1):c.1465+100G>A	noncoding	Benign
13	110192772	A	G	A110192772G	COL4A1	NM_001845.6(COL4A1):c.1465+58T>C	noncoding	Benign
13	110192967	G	A	G110192967A	COL4A1	NM_001845.6(COL4A1):c.1382-54C>T	noncoding	Benign
13	110193118	G	A	G110193118A	COL4A1	NM_001845.6(COL4A1):c.1382-205C>T	noncoding	Benign
13	110193158	C	T	C110193158T	COL4A1	NM_001845.6(COL4A1):c.1382-245G>A	noncoding	Benign
13	110194843	T	C	T110194843C	COL4A1	NM_001845.6(COL4A1):c.1381+180A>G	noncoding	Benign
13	110194870	A	G	A110194870G	COL4A1	NM_001845.6(COL4A1):c.1381+153T>C	noncoding	Benign
13	110194880	G	T	G110194880T	COL4A1	NM_001845.6(COL4A1):c.1381+143C>A	noncoding	Benign
13	110194936	C	T	C110194936T	COL4A1	NM_001845.6(COL4A1):c.1381+87G>A	noncoding	Benign
13	110194955	G	C	G110194955C	COL4A1	NM_001845.6(COL4A1):c.1381+68C>G	noncoding	Benign
13	110195219	C	T	C110195219T	COL4A1	NM_001845.6(COL4A1):c.1286-101G>A	noncoding	Benign
13	110195244	T	C	T110195244C	COL4A1	NM_001845.6(COL4A1):c.1286-126A>G	noncoding	Benign
13	110195378	A	G	A110195378G	COL4A1	NM_001845.6(COL4A1):c.1286-260T>C	noncoding	Benign
13	110195399	A	G	A110195399G	COL4A1	NM_001845.6(COL4A1):c.1286-281T>C	noncoding	Benign
13	110198176	T	C	T110198176C	COL4A1	NM_001845.6(COL4A1):c.1285+291A>G	noncoding	Benign
13	110198190	A	T	A110198190T	COL4A1	NM_001845.6(COL4A1):c.1285+277T>A	noncoding	Benign
13	110198423	T	C	T110198423C	COL4A1	NM_001845.6(COL4A1):c.1285+44A>G	noncoding	Benign
13	110198649	C	T	C110198649T	COL4A1	NM_001845.6(COL4A1):c.1121-18G>A	noncoding	Benign
13	110198667	G	C	G110198667C	COL4A1	NM_001845.6(COL4A1):c.1121-36C>G	noncoding	Benign
13	110198689	T	C	T110198689C	COL4A1	NM_001845.6(COL4A1):c.1121-58A>G	noncoding	Benign
13	110200734	C	T	C110200734T	COL4A1	NM_001845.6(COL4A1):c.1120+120G>A	noncoding	Benign
13	110201198	C	T	C110201198T	COL4A1	NM_001845.6(COL4A1):c.1084+240G>A	noncoding	Benign
13	110201348	G	A	G110201348A	COL4A1	NM_001845.6(COL4A1):c.1084+90C>T	noncoding	Benign
13	110201527	A	C	A110201527C	COL4A1	NM_001845.6(COL4A1):c.1000-5T>G	noncoding	Benign/Likely_benign
13	110201530	G	A	G110201530A	COL4A1	NM_001845.6(COL4A1):c.1000-8C>T	noncoding	Benign
13	110201711	C	T	C110201711T	COL4A1	NM_001845.6(COL4A1):c.1000-189G>A	noncoding	Benign
13	110201721	C	T	C110201721T	COL4A1	NM_001845.6(COL4A1):c.1000-199G>A	noncoding	Benign
13	110201798	A	G	A110201798G	COL4A1	NM_001845.6(COL4A1):c.1000-276T>C	noncoding	Benign
13	110203260	C	G	C110203260G	COL4A1	NM_001845.6(COL4A1):c.999+306G>C	noncoding	Benign
13	110203330	G	T	G110203330T	COL4A1	NM_001845.6(COL4A1):c.999+236C>A	noncoding	Benign
13	110203738	A	G	A110203738G	COL4A1	NM_001845.6(COL4A1):c.958-131T>C	noncoding	Benign
13	110203747	A	T	A110203747T	COL4A1	NM_001845.6(COL4A1):c.958-140T>A	noncoding	Benign
13	110203806	A	C	A110203806C	COL4A1	NM_001845.6(COL4A1):c.958-199T>G	noncoding	Benign
13	110203833	A	G	A110203833G	COL4A1	NM_001845.6(COL4A1):c.958-226T>C	noncoding	Benign
13	110203924	C	T	C110203924T	COL4A1	NM_001845.6(COL4A1):c.958-317G>A	noncoding	Benign
13	110205155	A	G	A110205155G	COL4A1	NM_001845.6(COL4A1):c.957+198T>C	noncoding	Benign
13	110206425	C	T	C110206425T	COL4A1	NM_001845.6(COL4A1):c.858+240G>A	noncoding	Benign
13	110206645	G	A	G110206645A	COL4A1	NM_001845.6(COL4A1):c.858+20C>T	noncoding	Benign
13	110206862	G	A	G110206862A	COL4A1	NM_001845.6(COL4A1):c.807+3C>T	noncoding	Benign/Likely_benign
13	110207187	G	C	G110207187C	COL4A1	NM_001845.6(COL4A1):c.780+216C>G	noncoding	Benign
13	110207275	A	T	A110207275T	COL4A1	NM_001845.6(COL4A1):c.780+128T>A	noncoding	Benign
13	110207343	A	G	A110207343G	COL4A1	NM_001845.6(COL4A1):c.780+60T>C	noncoding	Benign
13	110208660	G	A	G110208660A	COL4A1	NM_001845.6(COL4A1):c.693+189C>T	noncoding	Benign
13	110208664	T	C	T110208664C	COL4A1	NM_001845.6(COL4A1):c.693+185A>G	noncoding	Benign
13	110208809	G	A	G110208809A	COL4A1	NM_001845.6(COL4A1):c.693+40C>T	noncoding	Benign
13	110208877	A	C	A110208877C	COL4A1	NM_001845.6(COL4A1):c.665T>G:p.Leu222Ter	coding	Pathogenic
13	110208995	T	C	T110208995C	COL4A1	NM_001845.6(COL4A1):c.652-105A>G	noncoding	Benign
13	110209048	A	T	A110209048T	COL4A1	NM_001845.6(COL4A1):c.652-158T>A	noncoding	Benign
13	110209070	T	A	T110209070A	COL4A1	NM_001845.6(COL4A1):c.652-180A>T	noncoding	Benign
13	110209075	A	T	A110209075T	COL4A1	NM_001845.6(COL4A1):c.652-185T>A	noncoding	Benign
13	110209097	C	T	C110209097T	COL4A1	NM_001845.6(COL4A1):c.652-207G>A	noncoding	Benign
13	110209213	T	C	T110209213C	COL4A1	NM_001845.6(COL4A1):c.651+179A>G	noncoding	Benign
13	110209271	G	A	G110209271A	COL4A1	NM_001845.6(COL4A1):c.651+121C>T	noncoding	Benign
13	110209273	T	G	T110209273G	COL4A1	NM_001845.6(COL4A1):c.651+119A>C	noncoding	Benign
13	110209304	G	A	G110209304A	COL4A1	NM_001845.6(COL4A1):c.651+88C>T	noncoding	Benign
13	110209323	G	A	G110209323A	COL4A1	NM_001845.6(COL4A1):c.651+69C>T	noncoding	Benign
13	110209324	T	C	T110209324C	COL4A1	NM_001845.6(COL4A1):c.651+68A>G	noncoding	Benign
13	110209624	A	G	A110209624G	COL4A1	NM_001845.6(COL4A1):c.616-197T>C	noncoding	Benign
13	110209642	T	C	T110209642C	COL4A1	NM_001845.6(COL4A1):c.616-215A>G	noncoding	Benign
13	110209738	C	T	C110209738T	COL4A1	NM_001845.6(COL4A1):c.615+242G>A	noncoding	Benign
13	110209814	C	T	C110209814T	COL4A1	NM_001845.6(COL4A1):c.615+166G>A	noncoding	Benign
13	110209821	C	T	C110209821T	COL4A1	NM_001845.6(COL4A1):c.615+159G>A	noncoding	Benign
13	110209921	A	C	A110209921C	COL4A1	NM_001845.6(COL4A1):c.615+59T>G	noncoding	Benign
13	110209956	G	A	G110209956A	COL4A1	NM_001845.6(COL4A1):c.615+24C>T	noncoding	Benign
13	110210225	G	C	G110210225C	COL4A1	NM_001845.6(COL4A1):c.469-13C>G	noncoding	Benign
13	110210339	G	A	G110210339A	COL4A1	NM_001845.6(COL4A1):c.469-127C>T	noncoding	Benign
13	110210403	G	A	G110210403A	COL4A1	NM_001845.6(COL4A1):c.469-191C>T	noncoding	Benign
13	110211721	T	C	T110211721C	COL4A1	NM_001845.6(COL4A1):c.442-48A>G	noncoding	Benign
13	110211923	C	G	C110211923G	COL4A1	NM_001845.6(COL4A1):c.388-1G>C	coding	Pathogenic/Likely_pathogenic
13	110212049	T	C	T110212049C	COL4A1	NM_001845.6(COL4A1):c.388-127A>G	noncoding	Benign
13	110212090	A	G	A110212090G	COL4A1	NM_001845.6(COL4A1):c.388-168T>C	noncoding	Benign
13	110212092	A	G	A110212092G	COL4A1	NM_001845.6(COL4A1):c.388-170T>C	noncoding	Benign
13	110212174	C	G	C110212174G	COL4A1	NM_001845.6(COL4A1):c.387+243G>C	noncoding	Benign
13	110212403	G	A	G110212403A	COL4A1	NM_001845.6(COL4A1):c.387+14C>T	noncoding	Benign
13	110213534	A	G	A110213534G	COL4A1	NM_001845.6(COL4A1):c.279+248T>C	noncoding	Benign
13	110213614	A	G	A110213614G	COL4A1	NM_001845.6(COL4A1):c.279+168T>C	noncoding	Benign
13	110213615	C	T	C110213615T	COL4A1	NM_001845.6(COL4A1):c.279+167G>A	noncoding	Benign
13	110213718	C	T	C110213718T	COL4A1	NM_001845.6(COL4A1):c.279+64G>A	noncoding	Benign
13	110213849	T	C	T110213849C	COL4A1	NM_001845.6(COL4A1):c.235-23A>G	noncoding	Benign
13	110242803	A	G	A110242803G	COL4A1	NM_001845.6(COL4A1):c.85-69T>C	noncoding	Benign
13	110306784	A	G	A110306784G	COL4A1	NM_001845.6(COL4A1):c.84+160T>C	noncoding	Benign
13	110307697	G	C	G110307697C	COL4A2	NM_001846.4(COL4A2):c.-44-163G>C	noncoding	Benign
13	110307817	C	T	C110307817T	COL4A2	NM_001846.4(COL4A2):c.-44-43C>T	noncoding	Benign
13	110308025	C	T	C110308025T	COL4A2	NM_001846.4(COL4A2):c.45-44C>T	noncoding	Benign
13	110308139	C	T	C110308139T	COL4A2	NM_001846.4(COL4A2):c.99+16C>T	noncoding	Benign
13	110308338	T	C	T110308338C	COL4A2	NM_001846.4(COL4A2):c.99+215T>C	noncoding	Benign
13	110308365	A	G	A110308365G	COL4A2	NM_001846.4(COL4A2):c.99+242A>G	noncoding	Benign
13	110357296	G	A	G110357296A	COL4A2	NM_001846.4(COL4A2):c.100-176G>A	noncoding	Benign
13	110397276	T	C	T110397276C	COL4A2	NM_001846.4(COL4A2):c.181-27458T>C	noncoding	Benign
13	110424593	T	C	T110424593C	COL4A2	NM_001846.4(COL4A2):c.181-141T>C	noncoding	Benign
13	110424671	G	A	G110424671A	COL4A2	NM_001846.4(COL4A2):c.181-63G>A	noncoding	Benign
13	110424716	C	A	C110424716A	COL4A2	NM_001846.4(COL4A2):c.181-18C>A	noncoding	Benign
13	110424718	T	C	T110424718C	COL4A2	NM_001846.4(COL4A2):c.181-16T>C	noncoding	Benign
13	110424887	T	C	T110424887C	COL4A2	NM_001846.4(COL4A2):c.315+19T>C	noncoding	Benign
13	110424898	T	C	T110424898C	COL4A2	NM_001846.4(COL4A2):c.315+30T>C	noncoding	Benign
13	110424999	T	C	T110424999C	COL4A2	NM_001846.4(COL4A2):c.360+2T>C	noncoding	Pathogenic/Likely_pathogenic
13	110425057	T	G	T110425057G	COL4A2	NM_001846.4(COL4A2):c.360+60T>G	noncoding	Benign
13	110425103	G	A	G110425103A	COL4A2	NM_001846.4(COL4A2):c.360+106G>A	noncoding	Benign
13	110425169	A	G	A110425169G	COL4A2	NM_001846.4(COL4A2):c.360+172A>G	noncoding	Benign
13	110428262	G	A	G110428262A	COL4A2	NM_001846.4(COL4A2):c.361-205G>A	noncoding	Benign
13	110428551	C	G	C110428551G	COL4A2	NM_001846.4(COL4A2):c.445C>G:p.Pro149Ala	coding	Benign
13	110429711	T	C	T110429711C	COL4A2	NM_001846.4(COL4A2):c.478-174T>C	noncoding	Benign
13	110429810	C	A	C110429810A	COL4A2	NM_001846.4(COL4A2):c.478-75C>A	noncoding	Benign
13	110430635	C	T	C110430635T	COL4A2	NM_001846.4(COL4A2):c.648+28C>T	noncoding	Benign
13	110432005	G	A	G110432005A	COL4A2	NM_001846.4(COL4A2):c.649-320G>A	noncoding	Benign
13	110432060	T	C	T110432060C	COL4A2	NM_001846.4(COL4A2):c.649-265T>C	noncoding	Benign
13	110432499	T	A	T110432499A	COL4A2	NM_001846.4(COL4A2):c.684+139T>A	noncoding	Benign
13	110432556	G	T	G110432556T	COL4A2	NM_001846.4(COL4A2):c.684+196G>T	noncoding	Benign
13	110434159	G	A	G110434159A	COL4A2	NM_001846.4(COL4A2):c.685-242G>A	noncoding	Benign
13	110434224	T	C	T110434224C	COL4A2	NM_001846.4(COL4A2):c.685-177T>C	noncoding	Benign
13	110434303	G	A	G110434303A	COL4A2	NM_001846.4(COL4A2):c.685-98G>A	noncoding	Benign
13	110436109	A	T	A110436109T	COL4A2	NM_001846.4(COL4A2):c.727-160A>T	noncoding	Benign
13	110436523	G	T	G110436523T	COL4A2	NM_001846.4(COL4A2):c.825+156G>T	noncoding	Benign
13	110436562	G	A	G110436562A	COL4A2	NM_001846.4(COL4A2):c.825+195G>A	noncoding	Benign
13	110438309	A	G	A110438309G	COL4A2	NM_001846.4(COL4A2):c.861+272A>G	noncoding	Benign
13	110438382	C	T	C110438382T	COL4A2	NM_001846.4(COL4A2):c.862-236C>T	noncoding	Benign
13	110438387	G	A	G110438387A	COL4A2	NM_001846.4(COL4A2):c.862-231G>A	noncoding	Benign
13	110438507	A	G	A110438507G	COL4A2	NM_001846.4(COL4A2):c.862-111A>G	noncoding	Benign
13	110438562	T	C	T110438562C	COL4A2	NM_001846.4(COL4A2):c.862-56T>C	noncoding	Benign
13	110438577	G	A	G110438577A	COL4A2	NM_001846.4(COL4A2):c.862-41G>A	noncoding	Benign
13	110438810	C	A	C110438810A	COL4A2	NM_001846.4(COL4A2):c.912+142C>A	noncoding	Benign
13	110438884	A	G	A110438884G	COL4A2	NM_001846.4(COL4A2):c.912+216A>G	noncoding	Benign
13	110438927	G	A	G110438927A	COL4A2	NM_001846.4(COL4A2):c.912+259G>A	noncoding	Benign
13	110438950	G	A	G110438950A	COL4A2	NM_001846.4(COL4A2):c.912+282G>A	noncoding	Benign
13	110439566	C	A	C110439566A	COL4A2	NM_001846.4(COL4A2):c.913-223C>A	noncoding	Benign
13	110439648	T	G	T110439648G	COL4A2	NM_001846.4(COL4A2):c.913-141T>G	noncoding	Benign
13	110445670	T	C	T110445670C	COL4A2	NM_001846.4(COL4A2):c.958-159T>C	noncoding	Benign
13	110445763	C	T	C110445763T	COL4A2	NM_001846.4(COL4A2):c.958-66C>T	noncoding	Benign
13	110445883	G	A	G110445883A	COL4A2	NM_001846.4(COL4A2):c.1011+1G>A	coding	Pathogenic
13	110445991	A	T	A110445991T	COL4A2	NM_001846.4(COL4A2):c.1011+109A>T	noncoding	Benign
13	110446529	C	A	C110446529A	COL4A2	NM_001846.4(COL4A2):c.1012-269C>A	noncoding	Benign
13	110446698	C	G	C110446698G	COL4A2	NM_001846.4(COL4A2):c.1012-100C>G	noncoding	Benign
13	110446710	G	A	G110446710A	COL4A2	NM_001846.4(COL4A2):c.1012-88G>A	noncoding	Benign
13	110446775	G	A	G110446775A	COL4A2	NM_001846.4(COL4A2):c.1012-23G>A	noncoding	Benign
13	110447014	C	T	C110447014T	COL4A2	NM_001846.4(COL4A2):c.1078+150C>T	noncoding	Benign
13	110449584	C	T	C110449584T	COL4A2	NM_001846.4(COL4A2):c.1079-95C>T	noncoding	Benign
13	110449605	A	G	A110449605G	COL4A2	NM_001846.4(COL4A2):c.1079-74A>G	noncoding	Benign
13	110449808	A	G	A110449808G	COL4A2	NM_001846.4(COL4A2):c.1189+19A>G	noncoding	Benign
13	110449836	A	G	A110449836G	COL4A2	NM_001846.4(COL4A2):c.1189+47A>G	noncoding	Benign
13	110449916	T	C	T110449916C	COL4A2	NM_001846.4(COL4A2):c.1189+127T>C	noncoding	Benign
13	110450066	T	C	T110450066C	COL4A2	NM_001846.4(COL4A2):c.1190-239T>C	noncoding	Benign
13	110450148	A	C	A110450148C	COL4A2	NM_001846.4(COL4A2):c.1190-157A>C	noncoding	Benign
13	110450288	A	C	A110450288C	COL4A2	NM_001846.4(COL4A2):c.1190-17A>C	noncoding	Benign
13	110450439	C	T	C110450439T	COL4A2	NM_001846.4(COL4A2):c.1324C>T:p.Pro442Ser	coding	Benign
13	110450518	G	A	G110450518A	COL4A2	NM_001846.4(COL4A2):c.1339+64G>A	noncoding	Benign
13	110457512	A	G	A110457512G	COL4A2	NM_001846.4(COL4A2):c.1432+77A>G	noncoding	Benign
13	110457535	A	G	A110457535G	COL4A2	NM_001846.4(COL4A2):c.1432+100A>G	noncoding	Benign
13	110457613	T	C	T110457613C	COL4A2	NM_001846.4(COL4A2):c.1432+178T>C	noncoding	Benign
13	110457673	C	T	C110457673T	COL4A2	NM_001846.4(COL4A2):c.1432+238C>T	noncoding	Benign
13	110457714	C	T	C110457714T	COL4A2	NM_001846.4(COL4A2):c.1432+279C>T	noncoding	Benign
13	110458469	C	A	C110458469A	COL4A2	NM_001846.4(COL4A2):c.1433-302C>A	noncoding	Benign
13	110458486	G	A	G110458486A	COL4A2	NM_001846.4(COL4A2):c.1433-285G>A	noncoding	Benign
13	110458676	T	C	T110458676C	COL4A2	NM_001846.4(COL4A2):c.1433-95T>C	noncoding	Benign
13	110458696	G	A	G110458696A	COL4A2	NM_001846.4(COL4A2):c.1433-75G>A	noncoding	Benign
13	110458718	G	A	G110458718A	COL4A2	NM_001846.4(COL4A2):c.1433-53G>A	noncoding	Benign
13	110458838	A	T	A110458838T	COL4A2	NM_001846.4(COL4A2):c.1500A>T:p.Gly500=	coding	Benign
13	110458967	A	G	A110458967G	COL4A2	NM_001846.4(COL4A2):c.1596+33A>G	noncoding	Benign
13	110459035	G	A	G110459035A	COL4A2	NM_001846.4(COL4A2):c.1596+101G>A	noncoding	Benign
13	110459108	T	C	T110459108C	COL4A2	NM_001846.4(COL4A2):c.1596+174T>C	noncoding	Benign
13	110459150	G	A	G110459150A	COL4A2	NM_001846.4(COL4A2):c.1596+216G>A	noncoding	Benign
13	110462207	G	A	G110462207A	COL4A2	NM_001846.4(COL4A2):c.1669+21G>A	noncoding	Benign
13	110462404	G	A	G110462404A	COL4A2	NM_001846.4(COL4A2):c.1776+20G>A	noncoding	Benign
13	110462573	A	G	A110462573G	COL4A2	NM_001846.4(COL4A2):c.1776+189A>G	noncoding	Benign
13	110462616	G	T	G110462616T	COL4A2	NM_001846.4(COL4A2):c.1776+232G>T	noncoding	Benign
13	110462666	A	G	A110462666G	COL4A2	NM_001846.4(COL4A2):c.1776+282A>G	noncoding	Benign
13	110465221	A	G	A110465221G	COL4A2	NM_001846.4(COL4A2):c.1777-184A>G	noncoding	Benign
13	110465321	G	A	G110465321A	COL4A2	NM_001846.4(COL4A2):c.1777-84G>A	noncoding	Benign
13	110465637	C	T	C110465637T	COL4A2	NM_001846.4(COL4A2):c.1978+31C>T	noncoding	Benign
13	110465726	C	T	C110465726T	COL4A2	NM_001846.4(COL4A2):c.1978+120C>T	noncoding	Benign
13	110465755	G	A	G110465755A	COL4A2	NM_001846.4(COL4A2):c.1978+149G>A	noncoding	Benign
13	110465874	T	C	T110465874C	COL4A2	NM_001846.4(COL4A2):c.1979-129T>C	noncoding	Benign
13	110466056	C	T	C110466056T	COL4A2	NM_001846.4(COL4A2):c.2032C>T:p.Gln678Ter	coding	Pathogenic
13	110466199	T	G	T110466199G	COL4A2	NM_001846.4(COL4A2):c.2038+137T>G	noncoding	Benign
13	110466227	A	G	A110466227G	COL4A2	NM_001846.4(COL4A2):c.2038+165A>G	noncoding	Benign
13	110466233	G	A	G110466233A	COL4A2	NM_001846.4(COL4A2):c.2038+171G>A	noncoding	Benign
13	110466730	A	G	A110466730G	COL4A2	NM_001846.4(COL4A2):c.2039-310A>G	noncoding	Benign
13	110466799	A	T	A110466799T	COL4A2	NM_001846.4(COL4A2):c.2039-241A>T	noncoding	Benign
13	110466949	A	G	A110466949G	COL4A2	NM_001846.4(COL4A2):c.2039-91A>G	noncoding	Benign
13	110466995	T	C	T110466995C	COL4A2	NM_001846.4(COL4A2):c.2039-45T>C	noncoding	Benign
13	110467273	C	T	C110467273T	COL4A2	NM_001846.4(COL4A2):c.2095+177C>T	noncoding	Benign
13	110467307	T	C	T110467307C	COL4A2	NM_001846.4(COL4A2):c.2095+211T>C	noncoding	Benign
13	110469097	C	A	C110469097A	COL4A2	NM_001846.4(COL4A2):c.2096-120C>A	noncoding	Benign
13	110469136	A	G	A110469136G	COL4A2	NM_001846.4(COL4A2):c.2096-81A>G	noncoding	Benign
13	110469370	A	G	A110469370G	COL4A2	NM_001846.4(COL4A2):c.2203+46A>G	noncoding	Benign
13	110469500	T	C	T110469500C	COL4A2	NM_001846.4(COL4A2):c.2203+176T>C	noncoding	Benign
13	110469526	C	T	C110469526T	COL4A2	NM_001846.4(COL4A2):c.2203+202C>T	noncoding	Benign
13	110469634	T	C	T110469634C	COL4A2	NM_001846.4(COL4A2):c.2203+310T>C	noncoding	Benign
13	110472587	G	A	G110472587A	COL4A2	NM_001846.4(COL4A2):c.2204-342G>A	noncoding	Benign
13	110472624	A	C	A110472624C	COL4A2	NM_001846.4(COL4A2):c.2204-305A>C	noncoding	Benign
13	110473229	G	A	G110473229A	COL4A2	NM_001846.4(COL4A2):c.2425+79G>A	noncoding	Benign
13	110473259	A	G	A110473259G	COL4A2	NM_001846.4(COL4A2):c.2425+109A>G	noncoding	Benign
13	110473400	C	A	C110473400A	COL4A2	NM_001846.4(COL4A2):c.2425+250C>A	noncoding	Benign
13	110477879	G	A	G110477879A	COL4A2	NM_001846.4(COL4A2):c.2426-124G>A	noncoding	Benign
13	110478252	G	C	G110478252C	COL4A2	NM_001846.4(COL4A2):c.2587+88G>C	noncoding	Benign
13	110478327	C	T	C110478327T	COL4A2	NM_001846.4(COL4A2):c.2587+163C>T	noncoding	Benign
13	110478397	C	T	C110478397T	COL4A2	NM_001846.4(COL4A2):c.2587+233C>T	noncoding	Benign
13	110480010	A	T	A110480010T	COL4A2	NM_001846.4(COL4A2):c.2588-210A>T	noncoding	Benign
13	110480047	C	T	C110480047T	COL4A2	NM_001846.4(COL4A2):c.2588-173C>T	noncoding	Benign
13	110480066	C	T	C110480066T	COL4A2	NM_001846.4(COL4A2):c.2588-154C>T	noncoding	Benign
13	110480143	A	G	A110480143G	COL4A2	NM_001846.4(COL4A2):c.2588-77A>G	noncoding	Benign
13	110480175	G	A	G110480175A	COL4A2	NM_001846.4(COL4A2):c.2588-45G>A	noncoding	Benign
13	110480473	G	A	G110480473A	COL4A2	NM_001846.4(COL4A2):c.2758+83G>A	noncoding	Benign
13	110480599	T	G	T110480599G	COL4A2	NM_001846.4(COL4A2):c.2758+209T>G	noncoding	Benign
13	110480600	G	A	G110480600A	COL4A2	NM_001846.4(COL4A2):c.2758+210G>A	noncoding	Benign
13	110482433	G	A	G110482433A	COL4A2	NM_001846.4(COL4A2):c.2759-83G>A	noncoding	Benign
13	110482622	C	T	C110482622T	COL4A2	NM_001846.4(COL4A2):c.2865C>T:p.Pro955=	coding	Benign
13	110482903	G	T	G110482903T	COL4A2	NM_001846.4(COL4A2):c.2902+244G>T	noncoding	Benign
13	110482904	G	C	G110482904C	COL4A2	NM_001846.4(COL4A2):c.2902+245G>C	noncoding	Benign
13	110484770	G	A	G110484770A	COL4A2	NM_001846.4(COL4A2):c.2903-135G>A	noncoding	Benign
13	110484820	T	C	T110484820C	COL4A2	NM_001846.4(COL4A2):c.2903-85T>C	noncoding	Benign
13	110485044	G	A	G110485044A	COL4A2	NM_001846.4(COL4A2):c.3025+17G>A	noncoding	Benign
13	110485118	G	A	G110485118A	COL4A2	NM_001846.4(COL4A2):c.3025+91G>A	noncoding	Benign
13	110485141	G	A	G110485141A	COL4A2	NM_001846.4(COL4A2):c.3025+114G>A	noncoding	Benign
13	110485544	A	G	A110485544G	COL4A2	NM_001846.4(COL4A2):c.3026-111A>G	noncoding	Benign
13	110485616	G	A	G110485616A	COL4A2	NM_001846.4(COL4A2):c.3026-39G>A	noncoding	Benign
13	110485628	G	T	G110485628T	COL4A2	NM_001846.4(COL4A2):c.3026-27G>T	noncoding	Benign
13	110485764	C	T	C110485764T	COL4A2	NM_001846.4(COL4A2):c.3135C>T:p.Pro1045=	coding	Benign
13	110485908	G	A	G110485908A	COL4A2	NM_001846.4(COL4A2):c.3207+72G>A	noncoding	Benign
13	110489662	A	C	A110489662C	COL4A2	NM_001846.4(COL4A2):c.3272-49A>C	noncoding	Benign
13	110489669	G	A	G110489669A	COL4A2	NM_001846.4(COL4A2):c.3272-42G>A	noncoding	Benign
13	110489691	G	A	G110489691A	COL4A2	NM_001846.4(COL4A2):c.3272-20G>A	noncoding	Benign
13	110489711	G	A	G110489711A	COL4A2	NM_001846.4(COL4A2):c.3272G>A:p.Gly1091Asp	coding	Pathogenic
13	110489880	A	T	A110489880T	COL4A2	NM_001846.4(COL4A2):c.3346+95A>T	noncoding	Benign
13	110490893	G	C	G110490893C	COL4A2	NM_001846.4(COL4A2):c.3347-340G>C	noncoding	Benign
13	110491014	G	T	G110491014T	COL4A2	NM_001846.4(COL4A2):c.3347-219G>T	noncoding	Benign
13	110491334	C	T	C110491334T	COL4A2	NM_001846.4(COL4A2):c.3448C>T:p.Gln1150Ter	coding	Pathogenic
13	110491408	T	C	T110491408C	COL4A2	NM_001846.4(COL4A2):c.3454+68T>C	noncoding	Benign
13	110491504	G	C	G110491504C	COL4A2	NM_001846.4(COL4A2):c.3454+164G>C	noncoding	Benign
13	110491634	C	G	C110491634G	COL4A2	NM_001846.4(COL4A2):c.3454+294C>G	noncoding	Benign
13	110491639	A	G	A110491639G	COL4A2	NM_001846.4(COL4A2):c.3454+299A>G	noncoding	Benign
13	110491749	G	C	G110491749C	COL4A2	NM_001846.4(COL4A2):c.3455-321G>C	noncoding	Benign
13	110491755	T	C	T110491755C	COL4A2	NM_001846.4(COL4A2):c.3455-315T>C	noncoding	Benign
13	110491974	G	A	G110491974A	COL4A2	NM_001846.4(COL4A2):c.3455-96G>A	noncoding	Benign
13	110492218	C	T	C110492218T	COL4A2	NM_001846.4(COL4A2):c.3562+41C>T	noncoding	Benign
13	110492222	G	A	G110492222A	COL4A2	NM_001846.4(COL4A2):c.3562+45G>A	noncoding	Benign
13	110492462	C	T	C110492462T	COL4A2	NM_001846.4(COL4A2):c.3562+285C>T	noncoding	Benign
13	110492963	A	C	A110492963C	COL4A2	NM_001846.4(COL4A2):c.3563-248A>C	noncoding	Benign
13	110493283	G	A	G110493283A	COL4A2	NM_001846.4(COL4A2):c.3634+1G>A	coding	Pathogenic
13	110493329	G	C	G110493329C	COL4A2	NM_001846.4(COL4A2):c.3634+47G>C	noncoding	Benign
13	110493432	C	T	C110493432T	COL4A2	NM_001846.4(COL4A2):c.3634+150C>T	noncoding	Benign
13	110493496	G	C	G110493496C	COL4A2	NM_001846.4(COL4A2):c.3634+214G>C	noncoding	Benign
13	110493574	T	C	T110493574C	COL4A2	NM_001846.4(COL4A2):c.3634+292T>C	noncoding	Benign
13	110495097	A	G	A110495097G	COL4A2	NM_001846.4(COL4A2):c.3635-245A>G	noncoding	Benign
13	110495499	G	A	G110495499A	COL4A2	NM_001846.4(COL4A2):c.3760+32G>A	noncoding	Benign
13	110495537	G	T	G110495537T	COL4A2	NM_001846.4(COL4A2):c.3760+70G>T	noncoding	Benign
13	110495745	C	T	C110495745T	COL4A2	NM_001846.4(COL4A2):c.3760+278C>T	noncoding	Benign
13	110501398	G	A	G110501398A	COL4A2	NM_001846.4(COL4A2):c.3761-270G>A	noncoding	Benign
13	110501483	C	G	C110501483G	COL4A2	NM_001846.4(COL4A2):c.3761-185C>G	noncoding	Benign
13	110501587	G	A	G110501587A	COL4A2	NM_001846.4(COL4A2):c.3761-81G>A	noncoding	Benign
13	110501711	T	A	T110501711A	COL4A2	NM_001846.4(COL4A2):c.3804T>A:p.Pro1268=	coding	Benign
13	110501714	T	C	T110501714C	COL4A2	NM_001846.4(COL4A2):c.3807T>C:p.Gly1269=	coding	Benign
13	110501799	T	C	T110501799C	COL4A2	NM_001846.4(COL4A2):c.3877+15T>C	noncoding	Benign
13	110501812	C	T	C110501812T	COL4A2	NM_001846.4(COL4A2):c.3877+28C>T	noncoding	Benign
13	110501813	G	A	G110501813A	COL4A2	NM_001846.4(COL4A2):c.3877+29G>A	noncoding	Benign
13	110502030	G	A	G110502030A	COL4A2	NM_001846.4(COL4A2):c.3877+246G>A	noncoding	Benign
13	110502812	G	A	G110502812A	COL4A2	NM_001846.4(COL4A2):c.3878-309G>A	coding	Benign
13	110502883	G	T	G110502883T	COL4A2	NM_001846.4(COL4A2):c.3878-238G>T	coding	Benign
13	110502924	T	C	T110502924C	COL4A2	NM_001846.4(COL4A2):c.3878-197T>C	coding	Benign
13	110503016	G	A	G110503016A	COL4A2	NM_001846.4(COL4A2):c.3878-105G>A	noncoding	Benign
13	110503081	C	T	C110503081T	COL4A2	NM_001846.4(COL4A2):c.3878-40C>T	noncoding	Benign
13	110503163	C	G	C110503163G	COL4A2	NM_001846.4(COL4A2):c.3920C>G:p.Pro1307Arg	coding	Benign/Likely_benign
13	110503364	C	T	C110503364T	COL4A2	NM_001846.4(COL4A2):c.4040-19C>T	noncoding	Benign
13	110503426	T	C	T110503426C	COL4A2	NM_001846.4(COL4A2):c.4083T>C:p.Thr1361=	coding	Benign
13	110503494	C	G	C110503494G	COL4A2	NM_001846.4(COL4A2):c.4138+13C>G	noncoding	Benign
13	110503664	A	C	A110503664C	COL4A2	NM_001846.4(COL4A2):c.4138+183A>C	noncoding	Benign
13	110503674	C	T	C110503674T	COL4A2	NM_001846.4(COL4A2):c.4139-173C>T	noncoding	Benign
13	110503700	C	G	C110503700G	COL4A2	NM_001846.4(COL4A2):c.4139-147C>G	noncoding	Benign
13	110503806	G	A	G110503806A	COL4A2	NM_001846.4(COL4A2):c.4139-41G>A	noncoding	Benign
13	110504064	G	A	G110504064A	COL4A2	NM_001846.4(COL4A2):c.4285+71G>A	noncoding	Benign
13	110504152	C	T	C110504152T	COL4A2	NM_001846.4(COL4A2):c.4290C>T:p.Phe1430=	coding	Benign
13	110504262	A	C	A110504262C	COL4A2	NM_001846.4(COL4A2):c.4400A>C:p.Glu1467Ala	coding	Benign
13	110504426	A	G	A110504426G	COL4A2	NM_001846.4(COL4A2):c.4402+162A>G	noncoding	Benign
13	110504586	G	A	G110504586A	COL4A2	NM_001846.4(COL4A2):c.4402+322G>A	noncoding	Benign
13	110506476	C	T	C110506476T	COL4A2	NM_001846.4(COL4A2):c.4464C>T:p.Ile1488=	coding	Benign
13	110506623	C	T	C110506623T	COL4A2	NM_001846.4(COL4A2):c.4594+17C>T	noncoding	Benign
13	110506707	G	A	G110506707A	COL4A2	NM_001846.4(COL4A2):c.4594+101G>A	noncoding	Benign
13	110507895	G	C	G110507895C	COL4A2	NM_001846.4(COL4A2):c.4595-40G>C	noncoding	Benign
13	110511755	T	C	T110511755C	COL4A2	NM_001846.4(COL4A2):c.4882-179T>C	noncoding	Benign
13	110511851	T	C	T110511851C	COL4A2	NM_001846.4(COL4A2):c.4882-83T>C	noncoding	Benign
13	110615713	C	T	C110615713T	NAXD	NM_001242882.2(NAXD):c.46+66C>T	coding	Benign
13	110615716	G	C	G110615716C	NAXD	NM_001242882.2(NAXD):c.46+69G>C	coding	Benign
13	110615794	C	T	C110615794T	NAXD	NM_001242882.2(NAXD):c.46+147C>T	noncoding	Benign
13	110622229	G	A	G110622229A	NAXD	NM_001242882.2(NAXD):c.60G>A:p.Ala20=	coding	Benign
13	110622271	T	A	T110622271A	NAXD	NM_001242882.2(NAXD):c.102T>A:p.Asn34Lys	coding	Benign
13	110622310	T	C	T110622310C	NAXD	NM_001242882.2(NAXD):c.141T>C:p.Ser47=	coding	Benign
13	110625264	C	G	C110625264G	NAXD	NM_001242882.2(NAXD):c.318C>G:p.Ile106Met	coding	Pathogenic
13	110625296	G	A	G110625296A	NAXD	NM_001242882.2(NAXD):c.332+18G>A	noncoding	Benign
13	110627469	G	A	G110627469A	NAXD	NM_001242882.2(NAXD):c.363G>A:p.Glu121=	coding	Benign
13	110627470	A	G	A110627470G	NAXD	NM_001242882.2(NAXD):c.364A>G:p.Lys122Glu	coding	Benign
13	110627497	G	A	G110627497A	NAXD	NM_001242882.2(NAXD):c.391G>A:p.Val131Ile	coding	Benign
13	110634574	C	T	C110634574T	NAXD	NM_001242882.2(NAXD):c.471C>T:p.Asp157=	coding	Benign/Likely_benign
13	110634592	C	T	C110634592T	NAXD	NM_001242882.2(NAXD):c.489C>T:p.Asp163=	coding	Benign
13	110634689	C	T	C110634689T	NAXD	NM_001242882.2(NAXD):c.510C>T:p.Val170=	coding	Benign
13	110634720	C	T	C110634720T	NAXD	NM_001242882.2(NAXD):c.541C>T:p.Arg181Trp	coding	Benign
13	110634791	C	A	C110634791A	NAXD	NM_001242882.2(NAXD):c.597+15C>A	noncoding	Benign
13	110635578	C	T	C110635578T	NAXD	NM_001242882.2(NAXD):c.708C>T:p.Asn236=	coding	Benign
13	110635598	G	A	G110635598A	NAXD	NM_001242882.2(NAXD):c.718+10G>A	noncoding	Benign
13	110638281	G	C	G110638281C	NAXD	NM_001242882.2(NAXD):c.840-97G>C	coding	Benign
13	110638283	T	C	T110638283C	NAXD	NM_001242882.2(NAXD):c.840-95T>C	coding	Benign
13	110638320	C	T	C110638320T	NAXD	NM_001242882.2(NAXD):c.840-58C>T	coding	Benign
13	110638477	C	T	C110638477T	NAXD	NM_001242882.2(NAXD):c.939C>T:p.Ser313=	coding	Benign
13	110641293	G	A	G110641293A	CARS2	Single_allele	noncoding	Benign
13	110641483	C	G	C110641483G	CARS2	NM_024537.4(CARS2):c.*54G>C	noncoding	Benign
13	110641500	G	A	G110641500A	CARS2	NM_024537.4(CARS2):c.*37C>T	noncoding	Benign
13	110641641	A	G	A110641641G	CARS2	NM_024537.4(CARS2):c.1624-33T>C	noncoding	Benign
13	110642538	G	A	G110642538A	CARS2	NM_024537.4(CARS2):c.1417-17C>T	noncoding	Benign/Likely_benign
13	110642652	C	T	C110642652T	CARS2	NM_024537.4(CARS2):c.1417-131G>A	noncoding	Benign
13	110644495	C	T	C110644495T	CARS2	NM_024537.4(CARS2):c.1318-12G>A	noncoding	Benign/Likely_benign
13	110645854	C	T	C110645854T	CARS2	NM_024537.4(CARS2):c.1317+113G>A	noncoding	Benign
13	110647372	G	A	G110647372A	CARS2	NM_024537.4(CARS2):c.1055-133C>T	noncoding	Benign
13	110647466	G	A	G110647466A	CARS2	NM_024537.4(CARS2):c.1055-227C>T	noncoding	Benign
13	110650893	A	T	A110650893T	CARS2	NM_024537.4(CARS2):c.1054+141T>A	noncoding	Benign
13	110663248	A	G	A110663248G	CARS2	NM_024537.4(CARS2):c.987+203T>C	noncoding	Benign
13	110663254	G	A	G110663254A	CARS2	NM_024537.4(CARS2):c.987+197C>T	noncoding	Benign
13	110667537	G	A	G110667537A	CARS2	NM_024537.4(CARS2):c.786-64C>T	noncoding	Benign
13	110667731	C	G	C110667731G	CARS2	NM_024537.4(CARS2):c.786-258G>C	noncoding	Benign
13	110676772	G	A	G110676772A	CARS2	NM_024537.4(CARS2):c.785+202C>T	noncoding	Benign
13	110676867	G	T	G110676867T	CARS2	NM_024537.4(CARS2):c.785+107C>A	noncoding	Benign
13	110682761	G	A	G110682761A	CARS2	NM_024537.4(CARS2):c.655+290C>T	noncoding	Benign
13	110682972	C	T	C110682972T	CARS2	NM_024537.4(CARS2):c.655+79G>A	noncoding	Benign
13	110687692	G	A	G110687692A	CARS2	NM_024537.4(CARS2):c.571+29C>T	noncoding	Benign
13	110687695	A	C	A110687695C	CARS2	NM_024537.4(CARS2):c.571+26T>G	noncoding	Benign
13	110687709	C	A	C110687709A	CARS2	NM_024537.4(CARS2):c.571+12G>T	noncoding	Benign
13	110688031	T	G	T110688031G	CARS2	NM_024537.4(CARS2):c.394-13A>C	noncoding	Benign/Likely_benign
13	110688175	G	A	G110688175A	CARS2	NM_024537.4(CARS2):c.394-157C>T	noncoding	Benign
13	110701867	A	G	A110701867G	CARS2	NM_024537.4(CARS2):c.276-312T>C	noncoding	Benign
13	110705653	T	G	T110705653G	CARS2	NM_024537.4(CARS2):c.225-82A>C	noncoding	Benign
13	110706236	G	A	G110706236A	CARS2	NM_001352252.2(CARS2):c.-776+135C>T	noncoding	Benign
13	110706354	G	A	G110706354A	CARS2	NM_001352252.2(CARS2):c.-776+17C>T	noncoding	Benign
13	110706358	G	A	G110706358A	CARS2	NM_001352252.2(CARS2):c.-776+13C>T	noncoding	Benign
13	112690427	G	A	G112690427A	ATP11A	NM_015205.3(ATP11A):c.11G>A:p.Ser4Asn	coding	Pathogenic
13	112805044	C	G	C112805044G	ATP11A	NM_015205.3(ATP11A):c.250C>G:p.Gln84Glu	coding	Pathogenic
13	113105720	T	C	T113105720C	F7	Single_allele	noncoding	Benign
13	113105748	C	G	C113105748G	F7	NG_009262.1:g.4958C>G	noncoding	Pathogenic
13	113106101	G	A	G113106101A	F7	NM_019616.4(F7):c.64+196G>A	noncoding	Benign
13	113107199	C	T	C113107199T	F7	NM_019616.4(F7):c.64+1294C>T	noncoding	Benign
13	113110812	G	A	G113110812A	F7	NM_019616.4(F7):c.187G>A:p.Glu63Lys	coding	Pathogenic
13	113110921	G	A	G113110921A	F7	NM_019616.4(F7):c.225+71G>A	noncoding	Benign
13	113113879	A	G	A113113879G	F7	NM_019616.4(F7):c.283A>G:p.Asn95Asp	coding	Pathogenic
13	113113893	C	A	C113113893A	F7	NM_019616.4(F7):c.297C>A:p.Cys99Ter	coding	Pathogenic
13	113113961	G	A	G113113961A	F7	NM_019616.4(F7):c.364+1G>A	coding	Pathogenic/Likely_pathogenic
13	113113961	G	C	G113113961C	F7	NM_019616.4(F7):c.364+1G>C	coding	Pathogenic
13	113114271	C	T	C113114271T	F7	NM_019616.4(F7):c.364+311C>T	noncoding	Benign
13	113115603	G	A	G113115603A	F7	NM_019616.4(F7):c.365-57G>A	noncoding	Benign
13	113115689	G	T	G113115689T	F7	NM_019616.4(F7):c.394G>T:p.Glu132Ter	coding	Pathogenic
13	113115878	G	A	G113115878A	F7	NM_019616.4(F7):c.505+78G>A	noncoding	Pathogenic/Likely_pathogenic
13	113116562	G	A	G113116562A	F7	NM_019616.4(F7):c.506-204G>A	noncoding	Benign
13	113116828	C	T	C113116828T	F7	NM_019616.4(F7):c.568C>T:p.Arg190Ter	coding	Pathogenic
13	113117504	G	A	G113117504A	F7	NM_019616.4(F7):c.647G>A:p.Cys216Tyr	coding	Pathogenic
13	113117648	T	C	T113117648C	F7	NM_019616.4(F7):c.739+52T>C	noncoding	Benign
13	113118518	C	T	C113118518T	F7	NM_019616.4(F7):c.845C>T:p.Ala282Val	coding	Pathogenic/Likely_pathogenic
13	113118847	G	T	G113118847T	F7	NM_019616.4(F7):c.1174G>T:p.Gly392Cys	coding	Pathogenic
13	113118863	C	T	C113118863T	F7	NM_019616.4(F7):c.1190C>T:p.Thr397Met	coding	Pathogenic
13	113118936	C	G	C113118936G	F7	NM_019616.4(F7):c.1263C>G:p.Tyr421Ter	coding	Pathogenic
13	113118945	G	A	G113118945A	F7	NM_019616.4(F7):c.1272G>A:p.Trp424Ter	coding	Pathogenic
13	113122633	T	C	T113122633C	F10	Single_allele	noncoding	Benign
13	113122635	C	A	C113122635A	F10	Single_allele	noncoding	Benign
13	113122816	C	T	C113122816T	F10;F7	NM_000504.4(F10):c.-40C>T	noncoding	Benign/Likely_benign
13	113123195	A	G	A113123195G	F10	NM_000504.4(F10):c.70+270A>G	noncoding	Benign
13	113129521	A	G	A113129521G	F10	NM_000504.4(F10):c.140A>G:p.Glu47Gly	coding	Pathogenic
13	113129595	G	C	G113129595C	F10	NM_000504.4(F10):c.214G>C:p.Glu72Gln	coding	Pathogenic
13	113129676	C	T	C113129676T	F10	NM_000504.4(F10):c.231+64C>T	noncoding	Benign
13	113129701	G	A	G113129701A	F10	NM_000504.4(F10):c.231+89G>A	noncoding	Benign
13	113129907	T	G	T113129907G	F10	NM_000504.4(F10):c.231+295T>G	noncoding	Benign
13	113138579	C	A	C113138579A	F10	NM_000504.4(F10):c.256+98C>A	noncoding	Benign
13	113139535	G	A	G113139535A	F10	NM_000504.4(F10):c.370+65G>A	noncoding	Benign
13	113141338	A	G	A113141338G	F10	NM_000504.4(F10):c.502+288A>G	noncoding	Benign
13	113141357	T	C	T113141357C	F10	NM_000504.4(F10):c.502+307T>C	noncoding	Benign
13	113147468	C	A	C113147468A	F10	NM_000504.4(F10):c.837C>A:p.Tyr279Ter	coding	Pathogenic
13	113147529	A	G	A113147529G	F10	NM_000504.4(F10):c.865+33A>G	noncoding	Benign
13	113147586	G	C	G113147586C	F10	NM_000504.4(F10):c.865+90G>C	noncoding	Benign
13	113149062	G	A	G113149062A	F10	NM_000504.4(F10):c.1012G>A:p.Val338Met	coding	Pathogenic
13	113149170	T	C	T113149170C	F10	NM_000504.4(F10):c.1120T>C:p.Ser374Pro	coding	Pathogenic
13	113149266	G	A	G113149266A	F10	NM_000504.4(F10):c.1216G>A:p.Gly406Ser	coding	Pathogenic
13	113149822	C	G	C113149822G	F10	Single_allele	noncoding	Benign
13	113667152	G	A	G113667152A	GRK1	Single_allele	noncoding	Benign
13	113669574	C	T	C113669574T	GRK1	NM_002929.3(GRK1):c.700-113C>T	noncoding	Benign
13	113669682	T	C	T113669682C	GRK1	NM_002929.3(GRK1):c.700-5T>C	noncoding	Benign
13	113723061	A	G	A113723061G	GRK1	NM_002929.3(GRK1):c.986-13A>G	noncoding	Benign
13	113732834	A	G	A113732834G	GRK1	NM_002929.3(GRK1):c.1195-50A>G	noncoding	Benign
13	113735024	C	G	C113735024G	GRK1	NM_002929.3(GRK1):c.1397-44C>G	noncoding	Benign
13	114324885	G	A	G114324885A	CHAMP1	NM_032436.4(CHAMP1):c.1043G>A:p.Trp348Ter	coding	Pathogenic
13	114325456	C	T	C114325456T	CHAMP1	NM_032436.4(CHAMP1):c.1614C>T:p.Ala538=	coding	Benign
13	114325924	T	C	T114325924C	CHAMP1	NM_032436.4(CHAMP1):c.2082T>C:p.Ser694=	coding	Benign
14	20295764	G	A	G20295764A	TTC5	NM_138376.3(TTC5):c.787C>T:p.Arg263Ter	coding	Pathogenic
14	20296394	G	A	G20296394A	TTC5	NM_138376.3(TTC5):c.692C>T:p.Ala231Val	coding	Pathogenic
14	20298807	T	C	T20298807C	TTC5	NM_138376.3(TTC5):c.629A>G:p.Tyr210Cys	coding	Pathogenic
14	20305886	C	T	C20305886T	TTC5	NM_138376.3(TTC5):c.51+1G>A	noncoding	Pathogenic
14	20316559	G	T	G20316559T	CCNB1IP1	NM_021178.5(CCNB1IP1):c.-36C>A	noncoding	Benign
14	20354149	A	G	A20354149G	PARP2	NM_001042618.2(PARP2):c.665A>G:p.Asp222Gly	coding	Benign
14	20369542	G	C	G20369542C	TEP1	NM_007110.5(TEP1):c.7458C>G:p.Ile2486Met	coding	Benign
14	20383870	A	G	A20383870G	TEP1	NM_007110.5(TEP1):c.3583T>C:p.Ser1195Pro	coding	Benign
14	20404704	A	G	A20404704G	TEP1	NM_007110.5(TEP1):c.939T>C:p.Ala313=	coding	Benign
14	20404722	G	T	G20404722T	TEP1	NM_007110.5(TEP1):c.921C>A:p.Asn307Lys	coding	Benign
14	20447313	G	A	G20447313A	OSGEP	NM_017807.4(OSGEP):c.969-34C>T	noncoding	Benign
14	20447406	G	C	G20447406C	OSGEP	NM_017807.4(OSGEP):c.968+16C>G	noncoding	Benign
14	20447717	G	C	G20447717C	OSGEP	NM_017807.4(OSGEP):c.794-27C>G	noncoding	Benign
14	20448090	T	C	T20448090C	OSGEP	NM_017807.4(OSGEP):c.702+16A>G	noncoding	Benign
14	20448546	T	C	T20448546C	OSGEP	NM_017807.4(OSGEP):c.636+187A>G	noncoding	Benign
14	20448557	G	C	G20448557C	OSGEP	NM_017807.4(OSGEP):c.636+176C>G	noncoding	Benign
14	20448772	C	T	C20448772T	OSGEP	NM_017807.4(OSGEP):c.597G>A:p.Gly199=	coding	Benign
14	20448799	T	C	T20448799C	OSGEP	NM_017807.4(OSGEP):c.570A>G:p.Leu190=	coding	Benign
14	20448827	C	T	C20448827T	OSGEP	NM_017807.4(OSGEP):c.558-16G>A	noncoding	Benign
14	20448828	G	A	G20448828A	OSGEP	NM_017807.4(OSGEP):c.558-17C>T	noncoding	Benign
14	20449283	A	T	A20449283T	OSGEP	NM_017807.4(OSGEP):c.412-17T>A	noncoding	Benign
14	20451884	C	T	C20451884T	OSGEP	NM_017807.4(OSGEP):c.411+90G>A	noncoding	Benign
14	20452091	T	C	T20452091C	OSGEP	NM_017807.4(OSGEP):c.294A>G:p.Gln98=	coding	Benign
14	20452181	A	G	A20452181G	OSGEP	NM_017807.4(OSGEP):c.236-32T>C	noncoding	Benign
14	20452590	C	G	C20452590G	OSGEP	NM_017807.4(OSGEP):c.116-142G>C	noncoding	Benign
14	20452604	G	A	G20452604A	OSGEP	NM_017807.4(OSGEP):c.116-156C>T	noncoding	Benign
14	20452681	A	G	A20452681G	OSGEP	NM_017807.4(OSGEP):c.116-233T>C	noncoding	Benign
14	20454561	T	C	T20454561C	OSGEP	NM_017807.4(OSGEP):c.115+8A>G	noncoding	Benign
14	20454835	C	A	C20454835A	OSGEP	Single_allele	noncoding	Benign
14	20454848	C	A	C20454848A	OSGEP	Single_allele	noncoding	Benign
14	20454990	T	G	T20454990G	OSGEP	Single_allele	noncoding	Benign
14	20455138	A	C	A20455138C	OSGEP	Single_allele	noncoding	Benign
14	20456275	T	C	T20456275C	APEX1	NM_001641.4(APEX1):c.246+174T>C	noncoding	Benign
14	20456290	T	A	T20456290A	APEX1	NM_001641.4(APEX1):c.246+189T>A	noncoding	Benign
14	20456995	T	G	T20456995G	APEX1	NM_001641.4(APEX1):c.444T>G:p.Asp148Glu	coding	Benign
14	20474489	C	T	C20474489T	PNP	NM_000270.4(PNP):c.199C>T:p.Arg67Ter	coding	Pathogenic
14	20474534	C	T	C20474534T	PNP	NM_000270.4(PNP):c.244C>T:p.Gln82Ter	coding	Pathogenic
14	20474594	T	C	T20474594C	PNP	NM_000270.4(PNP):c.285+19T>C	noncoding	Benign
14	20474964	C	T	C20474964T	PNP	NM_000270.4(PNP):c.461+16C>T	noncoding	Benign
14	20476431	C	T	C20476431T	PNP	NM_000270.4(PNP):c.700C>T:p.Arg234Ter	coding	Pathogenic
14	20693222	A	G	A20693222G	ANG	NM_001097577.3(ANG):c.-18-325A>G	noncoding	Benign
14	20693226	T	G	T20693226G	ANG	NM_001097577.3(ANG):c.-18-321T>G	noncoding	Benign
14	20693325	G	C	G20693325C	ANG	NM_001097577.3(ANG):c.-18-222G>C	noncoding	Benign
14	20693663	C	T	C20693663T	ANG	NM_001097577.3(ANG):c.99C>T:p.Phe33=	coding	Benign/Likely_benign
14	20693696	C	T	C20693696T	ANG	NM_001097577.3(ANG):c.132C>T:p.Gly44=	coding	Benign/Likely_benign
14	20999754	T	G	T20999754G	SLC39A2	NM_014579.4(SLC39A2):c.128T>G:p.Leu43Arg	coding	Benign
14	21074594	G	A	G21074594A	ARHGEF40	NM_018071.5(ARHGEF40):c.864G>A:p.Ala288=	coding	Benign
14	21074607	A	G	A21074607G	ARHGEF40	NM_018071.5(ARHGEF40):c.877A>G:p.Lys293Glu	coding	Benign
14	21088862	G	A	G21088862A	ARHGEF40	NM_018071.5(ARHGEF40):c.4551G>A:p.Thr1517=	coding	Benign
14	21294412	T	C	T21294412C	RPGRIP1	NM_020366.4(RPGRIP1):c.86-265T>C	noncoding	Benign
14	21294657	A	T	A21294657T	RPGRIP1	NM_020366.4(RPGRIP1):c.86-20A>T	noncoding	Benign
14	21301060	C	T	C21301060T	RPGRIP1	NM_020366.4(RPGRIP1):c.313C>T:p.Gln105Ter	coding	Pathogenic
14	21301248	A	C	A21301248C	RPGRIP1	NM_020366.4(RPGRIP1):c.490+11A>C	noncoding	Benign
14	21302755	G	A	G21302755A	RPGRIP1	NM_020366.4(RPGRIP1):c.587+171G>A	noncoding	Benign
14	21302861	T	C	T21302861C	RPGRIP1	NM_020366.4(RPGRIP1):c.587+277T>C	noncoding	Benign
14	21303176	C	T	C21303176T	RPGRIP1	NM_020366.4(RPGRIP1):c.588-155C>T	noncoding	Benign
14	21303510	C	G	C21303510G	RPGRIP1	NM_020366.4(RPGRIP1):c.767C>G:p.Ser256Ter	coding	Pathogenic
14	21310429	G	A	G21310429A	RPGRIP1	NM_020366.4(RPGRIP1):c.907-155G>A	noncoding	Benign
14	21310633	T	C	T21310633C	RPGRIP1	NM_020366.4(RPGRIP1):c.930+26T>C	noncoding	Benign
14	21312157	T	C	T21312157C	RPGRIP1	NM_020366.4(RPGRIP1):c.1077+187T>C	noncoding	Benign
14	21312466	C	T	C21312466T	RPGRIP1	NM_020366.4(RPGRIP1):c.1111C>T:p.Arg371Ter	coding	Pathogenic
14	21312500	T	A	T21312500A	RPGRIP1	NM_020366.4(RPGRIP1):c.1145T>A:p.Leu382Ter	coding	Pathogenic
14	21312507	G	A	G21312507A	RPGRIP1	NM_020366.4(RPGRIP1):c.1151+1G>A	coding	Pathogenic
14	21317631	G	A	G21317631A	RPGRIP1	NM_020366.4(RPGRIP1):c.1152-65G>A	noncoding	Benign
14	21318053	T	C	T21318053C	RPGRIP1	NM_020366.4(RPGRIP1):c.1306+203T>C	noncoding	Benign
14	21320933	A	T	A21320933T	RPGRIP1	NM_020366.4(RPGRIP1):c.1468-326A>T	noncoding	Benign
14	21321635	G	A	G21321635A	RPGRIP1	NM_020366.4(RPGRIP1):c.1612-219G>A	noncoding	Benign
14	21321669	C	T	C21321669T	RPGRIP1	NM_020366.4(RPGRIP1):c.1612-185C>T	noncoding	Benign
14	21321764	A	T	A21321764T	RPGRIP1	NM_020366.4(RPGRIP1):c.1612-90A>T	noncoding	Benign
14	21324552	C	T	C21324552T	RPGRIP1	NM_020366.4(RPGRIP1):c.1763-66C>T	noncoding	Benign
14	21324722	C	T	C21324722T	RPGRIP1	NM_020366.4(RPGRIP1):c.1867C>T:p.Gln623Ter	coding	Pathogenic
14	21324785	C	T	C21324785T	RPGRIP1	NM_020366.4(RPGRIP1):c.1930C>T:p.Gln644Ter	coding	Pathogenic
14	21324850	T	A	T21324850A	RPGRIP1	NM_020366.4(RPGRIP1):c.1995T>A:p.Cys665Ter	coding	Pathogenic
14	21326055	T	C	T21326055C	RPGRIP1	NM_020366.4(RPGRIP1):c.2592T>C:p.Tyr864=	coding	Benign
14	21327621	A	G	A21327621G	RPGRIP1	NM_020366.4(RPGRIP1):c.2711-2A>G	noncoding	Pathogenic
14	21328658	T	C	T21328658C	RPGRIP1	NM_020366.4(RPGRIP1):c.3099+31T>C	noncoding	Benign
14	21334420	A	T	A21334420T	RPGRIP1	NM_020366.4(RPGRIP1):c.3239-185A>T	noncoding	Benign
14	21342959	A	G	A21342959G	RPGRIP1	NM_020366.4(RPGRIP1):c.3340-77A>G	noncoding	Benign
14	21343471	G	C	G21343471C	RPGRIP1	NM_020366.4(RPGRIP1):c.3532+243G>C	noncoding	Benign
14	21344914	C	G	C21344914G	RPGRIP1	NM_020366.4(RPGRIP1):c.3533-199C>G	noncoding	Benign
14	21345190	C	T	C21345190T	RPGRIP1	NM_020366.4(RPGRIP1):c.3610C>T:p.Gln1204Ter	coding	Pathogenic
14	21345351	A	G	A21345351G	RPGRIP1	NM_020366.4(RPGRIP1):c.3617+154A>G	noncoding	Benign
14	21348054	G	A	G21348054A	RPGRIP1	NM_020366.4(RPGRIP1):c.3618-118G>A	noncoding	Benign
14	21350902	G	T	G21350902T	RPGRIP1	NM_020366.4(RPGRIP1):c.3749-202G>T	noncoding	Benign
14	21359585	G	A	G21359585A	SUPT16H	NM_007192.4(SUPT16H):c.2200C>T:p.Arg734Trp	coding	Pathogenic
14	21360512	C	T	C21360512T	SUPT16H	NM_007192.4(SUPT16H):c.2078G>A:p.Arg693Gln	coding	Pathogenic
14	21362278	T	C	T21362278C	SUPT16H	NM_007192.4(SUPT16H):c.1712A>G:p.Asn571Ser	coding	Pathogenic
14	21363442	A	G	A21363442G	SUPT16H	NM_007192.4(SUPT16H):c.1295T>C:p.Leu432Pro	coding	Pathogenic
14	21385887	A	G	A21385887G	CHD8	NM_001170629.2(CHD8):c.7472T>C:p.Met2491Thr	coding	Benign/Likely_benign
14	21385928	C	T	C21385928T	CHD8	NM_001170629.2(CHD8):c.7431G>A:p.Met2477Ile	coding	Benign
14	21390785	C	A	C21390785A	CHD8	NM_001170629.2(CHD8):c.7182+162G>T	noncoding	Benign
14	21392201	G	A	G21392201A	CHD8	NM_001170629.2(CHD8):c.6772-255C>T	coding	Benign
14	21392751	C	T	C21392751T	CHD8	NM_001170629.2(CHD8):c.6527G>A:p.Trp2176Ter	coding	Pathogenic
14	21393052	C	A	C21393052A	CHD8	NM_001170629.2(CHD8):c.6468+54G>T	noncoding	Benign
14	21394525	A	G	A21394525G	CHD8	NM_001170629.2(CHD8):c.5391-40T>C	noncoding	Benign
14	21394601	G	A	G21394601A	CHD8	NM_001170629.2(CHD8):c.5391-116C>T	noncoding	Benign
14	21395107	T	C	T21395107C	CHD8	NM_001170629.2(CHD8):c.5195A>G:p.Gln1732Arg	coding	Benign/Likely_benign
14	21395386	G	A	G21395386A	CHD8	NM_001170629.2(CHD8):c.5128-34C>T	noncoding	Benign
14	21395557	C	T	C21395557T	CHD8	NM_001170629.2(CHD8):c.5128-205G>A	noncoding	Benign
14	21395965	C	A	C21395965A	CHD8	NM_001170629.2(CHD8):c.5052-73G>T	noncoding	Benign
14	21397750	T	C	T21397750C	CHD8	NM_001170629.2(CHD8):c.5051+73A>G	noncoding	Benign
14	21397804	A	T	A21397804T	CHD8	NM_001170629.2(CHD8):c.5051+19T>A	noncoding	Benign
14	21397890	G	A	G21397890A	CHD8	NM_001170629.2(CHD8):c.4984C>T:p.Arg1662Ter	coding	Pathogenic
14	21399586	A	T	A21399586T	CHD8	NM_001170629.2(CHD8):c.4921+16T>A	noncoding	Benign
14	21399648	C	T	C21399648T	CHD8	NM_001170629.2(CHD8):c.4875G>A:p.Trp1625Ter	coding	Pathogenic
14	21399706	C	T	C21399706T	CHD8	NM_001170629.2(CHD8):c.4818-1G>A	coding	Pathogenic
14	21399768	A	T	A21399768T	CHD8	NM_001170629.2(CHD8):c.4818-63T>A	noncoding	Benign
14	21399870	T	C	T21399870C	CHD8	NM_001170629.2(CHD8):c.4817+111A>G	noncoding	Benign
14	21400054	G	A	G21400054A	CHD8	NM_001170629.2(CHD8):c.4744C>T:p.Arg1582Ter	coding	Pathogenic/Likely_pathogenic
14	21400089	G	A	G21400089A	CHD8	NM_001170629.2(CHD8):c.4728-19C>T	noncoding	Benign
14	21400543	C	A	C21400543A	CHD8	NM_001170629.2(CHD8):c.4440G>T:p.Glu1480Asp	coding	Pathogenic
14	21400554	G	A	G21400554A	CHD8	NM_001170629.2(CHD8):c.4429C>T:p.Arg1477Ter	coding	Pathogenic
14	21401035	G	A	G21401035A	CHD8	NM_001170629.2(CHD8):c.4210C>T:p.Gln1404Ter	coding	Pathogenic
14	21401041	G	A	G21401041A	CHD8	NM_001170629.2(CHD8):c.4204C>T:p.Arg1402Ter	coding	Pathogenic
14	21401392	A	G	A21401392G	CHD8	NM_001170629.2(CHD8):c.4173+11T>C	noncoding	Benign
14	21401549	T	C	T21401549C	CHD8	NM_001170629.2(CHD8):c.4063-36A>G	noncoding	Benign
14	21402330	A	G	A21402330G	CHD8	NM_001170629.2(CHD8):c.3882+6T>C	noncoding	Benign
14	21402518	A	C	A21402518C	CHD8	NM_001170629.2(CHD8):c.3715-15T>G	noncoding	Benign
14	21402588	C	A	C21402588A	CHD8	NM_001170629.2(CHD8):c.3715-85G>T	noncoding	Benign
14	21403013	T	C	T21403013C	CHD8	NM_001170629.2(CHD8):c.3714+4A>G	noncoding	Benign
14	21403019	G	A	G21403019A	CHD8	NM_001170629.2(CHD8):c.3712C>T:p.Gln1238Ter	coding	Pathogenic
14	21403214	T	C	T21403214C	CHD8	NM_001170629.2(CHD8):c.3519-2A>G	noncoding	Pathogenic
14	21403469	A	T	A21403469T	CHD8	NM_001170629.2(CHD8):c.3502T>A:p.Tyr1168Asn	coding	Pathogenic
14	21403664	C	G	C21403664G	CHD8	NM_001170629.2(CHD8):c.3308-1G>C	coding	Pathogenic
14	21403665	T	C	T21403665C	CHD8	NM_001170629.2(CHD8):c.3308-2A>G	noncoding	Pathogenic
14	21405697	T	G	T21405697G	CHD8	NM_001170629.2(CHD8):c.3051+24A>C	noncoding	Benign
14	21405909	G	C	G21405909C	CHD8	NM_001170629.2(CHD8):c.2908-45C>G	noncoding	Benign
14	21405935	A	G	A21405935G	CHD8	NM_001170629.2(CHD8):c.2908-71T>C	noncoding	Benign
14	21406098	T	C	T21406098C	CHD8	NM_001170629.2(CHD8):c.2908-234A>G	noncoding	Benign
14	21406811	G	A	G21406811A	CHD8	NM_001170629.2(CHD8):c.2907+45C>T	noncoding	Benign
14	21406844	T	A	T21406844A	CHD8	NM_001170629.2(CHD8):c.2907+12A>T	noncoding	Benign
14	21407317	C	T	C21407317T	CHD8	NM_001170629.2(CHD8):c.2731-285G>A	noncoding	Benign
14	21407328	T	C	T21407328C	CHD8	NM_001170629.2(CHD8):c.2731-296A>G	noncoding	Benign
14	21407985	T	C	T21407985C	CHD8	NM_001170629.2(CHD8):c.2730+327A>G	noncoding	Benign
14	21408592	G	A	G21408592A	CHD8	NM_001170629.2(CHD8):c.2487-37C>T	noncoding	Benign
14	21408893	T	A	T21408893A	CHD8	NM_001170629.2(CHD8):c.2365-68A>T	noncoding	Benign
14	21409529	T	C	T21409529C	CHD8	NM_001170629.2(CHD8):c.2364+322A>G	noncoding	Benign
14	21409615	G	A	G21409615A	CHD8	NM_001170629.2(CHD8):c.2364+236C>T	noncoding	Benign
14	21409853	C	T	C21409853T	CHD8	NM_001170629.2(CHD8):c.2362G>A:p.Val788Met	coding	Benign/Likely_benign
14	21409897	C	T	C21409897T	CHD8	NM_001170629.2(CHD8):c.2318G>A:p.Arg773Gln	coding	Benign/Likely_benign
14	21410170	T	C	T21410170C	CHD8	NM_001170629.2(CHD8):c.2227-182A>G	noncoding	Benign
14	21412808	C	T	C21412808T	CHD8	NM_001170629.2(CHD8):c.2226+105G>A	noncoding	Benign
14	21414266	G	A	G21414266A	CHD8	NM_001170629.2(CHD8):c.2142+35C>T	noncoding	Benign
14	21414378	C	A	C21414378A	CHD8	NM_001170629.2(CHD8):c.2065G>T:p.Glu689Ter	coding	Pathogenic
14	21414454	T	C	T21414454C	CHD8	NM_001170629.2(CHD8):c.2025-36A>G	noncoding	Benign
14	21414490	G	T	G21414490T	CHD8	NM_001170629.2(CHD8):c.2025-72C>A	noncoding	Benign
14	21415321	T	C	T21415321C	CHD8	NM_001170629.2(CHD8):c.1968+253A>G	noncoding	Benign
14	21415815	A	G	A21415815G	CHD8	NM_001170629.2(CHD8):c.1809T>C:p.Asp603=	coding	Benign
14	21426048	G	A	G21426048A	CHD8	NM_001170629.2(CHD8):c.1716+80C>T	noncoding	Benign
14	21426092	G	T	G21426092T	CHD8	NM_001170629.2(CHD8):c.1716+36C>A	noncoding	Benign
14	21426367	T	C	T21426367C	CHD8	NM_001170629.2(CHD8):c.1602-125A>G	noncoding	Benign
14	21426393	G	C	G21426393C	CHD8	NM_001170629.2(CHD8):c.1602-151C>G	noncoding	Benign
14	21427626	T	A	T21427626A	CHD8	NM_001170629.2(CHD8):c.1601+243A>T	noncoding	Benign
14	21427840	G	A	G21427840A	CHD8	NM_001170629.2(CHD8):c.1601+29C>T	noncoding	Benign/Likely_benign
14	21427897	A	G	A21427897G	CHD8	NM_001170629.2(CHD8):c.1573T>C:p.Ser525Pro	coding	Benign/Likely_benign
14	21428026	G	A	G21428026A	CHD8	NM_001170629.2(CHD8):c.1444C>T:p.Arg482Ter	coding	Pathogenic
14	21428275	C	T	C21428275T	CHD8	NM_001170629.2(CHD8):c.1216-21G>A	noncoding	Benign
14	21429457	C	T	C21429457T	CHD8	NM_001170629.2(CHD8):c.844-122G>A	noncoding	Benign
14	21429483	C	A	C21429483A	CHD8	NM_001170629.2(CHD8):c.844-148G>T	noncoding	Benign
14	21525504	G	C	G21525504C	SALL2	NM_001364564.1(SALL2):c.218C>G:p.Ser73Cys	coding	Benign
14	22574793	T	C	T22574793C	DAD1	NM_001344.4(DAD1):c.*44+266A>G	noncoding	Benign
14	22574887	A	G	A22574887G	DAD1	NM_001344.4(DAD1):c.*44+172T>C	noncoding	Benign
14	22574987	T	A	T22574987A	DAD1	NM_001344.4(DAD1):c.*44+72A>T	noncoding	Benign
14	22575104	C	T	C22575104T	DAD1	NM_001344.4(DAD1):c.341G>A:p.Ter114=	coding	Benign
14	22575361	A	G	A22575361G	DAD1	NM_001344.4(DAD1):c.212-128T>C	noncoding	Benign
14	22575443	A	G	A22575443G	DAD1	NM_001344.4(DAD1):c.212-210T>C	noncoding	Benign
14	22588761	G	C	G22588761C	DAD1	NM_001344.4(DAD1):c.211+186C>G	noncoding	Benign
14	22766599	G	A	G22766599A	OXA1L	NM_005015.3(OXA1L):c.78G>A:p.Leu26=	coding	Benign
14	22768003	G	A	G22768003A	OXA1L	NM_005015.5(OXA1L):c.271G>A:p.Val91Ile	coding	Benign
14	22773771	A	G	A22773771G	SLC7A7	NM_003982.4(SLC7A7):c.1430-55T>C	noncoding	Benign
14	22773945	G	A	G22773945A	SLC7A7	NM_003982.4(SLC7A7):c.1417C>T:p.Arg473Ter	coding	Pathogenic
14	22774483	G	C	G22774483C	SLC7A7	NM_003982.4(SLC7A7):c.1116C>G:p.Tyr372Ter	coding	Pathogenic
14	22775333	T	C	T22775333C	SLC7A7	NM_003982.4(SLC7A7):c.1095+111A>G	noncoding	Benign
14	22775720	A	T	A22775720T	SLC7A7	NM_003982.4(SLC7A7):c.998+113T>A	noncoding	Benign
14	22775832	C	A	C22775832A	SLC7A7	NM_003982.4(SLC7A7):c.998+1G>T	noncoding	Pathogenic
14	22775901	C	T	C22775901T	SLC7A7	NM_003982.4(SLC7A7):c.930G>A:p.Trp310Ter	coding	Pathogenic
14	22775956	G	A	G22775956A	SLC7A7	NM_003982.4(SLC7A7):c.895-20C>T	noncoding	Benign
14	22776043	A	G	A22776043G	SLC7A7	NM_003982.4(SLC7A7):c.895-107T>C	noncoding	Benign
14	22776050	G	A	G22776050A	SLC7A7	NM_003982.4(SLC7A7):c.895-114C>T	noncoding	Benign
14	22776092	T	C	T22776092C	SLC7A7	NM_003982.4(SLC7A7):c.894+103A>G	noncoding	Benign
14	22776194	C	A	C22776194A	SLC7A7	NM_003982.4(SLC7A7):c.894+1G>T	noncoding	Pathogenic
14	22778797	C	A	C22778797A	SLC7A7	NM_003982.4(SLC7A7):c.766G>T:p.Glu256Ter	coding	Pathogenic
14	22779095	G	T	G22779095T	SLC7A7	NM_003982.4(SLC7A7):c.626-158C>A	noncoding	Benign
14	22780071	G	C	G22780071C	SLC7A7	NM_003982.4(SLC7A7):c.500-20C>G	noncoding	Benign
14	22780083	A	G	A22780083G	SLC7A7	NM_003982.4(SLC7A7):c.500-32T>C	noncoding	Benign
14	22780118	A	G	A22780118G	SLC7A7	NM_003982.4(SLC7A7):c.500-67T>C	noncoding	Benign
14	22812899	C	T	C22812899T	SLC7A7	NM_003982.4(SLC7A7):c.499+1G>A	noncoding	Pathogenic/Likely_pathogenic
14	22812934	A	C	A22812934C	SLC7A7	NM_003982.4(SLC7A7):c.465T>G:p.Tyr155Ter	coding	Pathogenic
14	22813311	G	A	G22813311A	SLC7A7	NM_003982.4(SLC7A7):c.88C>T:p.Gln30Ter	coding	Pathogenic
14	22813464	A	G	A22813464G	SLC7A7	NM_003982.4(SLC7A7):c.-42-24T>C	noncoding	Benign
14	22813490	A	T	A22813490T	SLC7A7	NM_003982.4(SLC7A7):c.-42-50T>A	noncoding	Benign
14	22813541	A	C	A22813541C	SLC7A7	NM_003982.4(SLC7A7):c.-42-101T>G	noncoding	Benign
14	22815695	A	G	A22815695G	SLC7A7	NM_001126105.3(SLC7A7):c.-175+136T>C	noncoding	Benign
14	22815939	T	C	T22815939C	SLC7A7	NM_001126106.4(SLC7A7):c.-174-488A>G	noncoding	Benign
14	22819830	G	A	G22819830A	SLC7A7	Single_allele	noncoding	Benign
14	22819847	A	G	A22819847G	SLC7A7	Single_allele	noncoding	Benign
14	22836292	A	G	A22836292G	MMP14	Single_allele	noncoding	Benign
14	22836440	T	C	T22836440C	MMP14	Single_allele	noncoding	Benign
14	22836454	G	T	G22836454T	MMP14	Single_allele	noncoding	Benign
14	22836774	G	C	G22836774C	MMP14	NM_004995.4(MMP14):c.-44G>C	noncoding	Benign
14	22836839	C	T	C22836839T	MMP14	NM_004995.4(MMP14):c.22C>T:p.Pro8Ser	coding	Benign
14	22837130	C	T	C22837130T	MMP14	NM_004995.4(MMP14):c.108+205C>T	noncoding	Benign
14	22837133	C	A	C22837133A	MMP14	NM_004995.4(MMP14):c.108+208C>A	noncoding	Benign
14	22841276	C	T	C22841276T	MMP14	NM_004995.4(MMP14):c.109-215C>T	noncoding	Benign
14	22841835	T	C	T22841835C	MMP14	NM_004995.4(MMP14):c.258-78T>C	noncoding	Benign
14	22842271	G	A	G22842271A	MMP14	NM_004995.4(MMP14):c.381-139G>A	noncoding	Benign
14	22842683	C	T	C22842683T	MMP14	NM_004995.4(MMP14):c.654C>T:p.Ala218=	coding	Benign
14	22842737	G	A	G22842737A	MMP14	NM_004995.4(MMP14):c.688+20G>A	noncoding	Benign
14	22842768	G	T	G22842768T	MMP14	NM_004995.4(MMP14):c.688+51G>T	noncoding	Benign
14	22843086	A	G	A22843086G	MMP14	NM_004995.4(MMP14):c.689-171A>G	noncoding	Benign
14	22843191	G	A	G22843191A	MMP14	NM_004995.4(MMP14):c.689-66G>A	noncoding	Benign
14	22843309	C	T	C22843309T	MMP14	NM_004995.4(MMP14):c.741C>T:p.Leu247=	coding	Benign
14	22843345	C	G	C22843345G	MMP14	NM_004995.4(MMP14):c.777C>G:p.Pro259=	coding	Benign
14	22843385	G	A	G22843385A	MMP14	NM_004995.4(MMP14):c.817G>A:p.Asp273Asn	coding	Benign
14	22843509	C	T	C22843509T	MMP14	NM_004995.4(MMP14):c.850+91C>T	noncoding	Benign
14	22843654	C	G	C22843654G	MMP14	NM_004995.4(MMP14):c.851-56C>G	noncoding	Benign
14	22843660	G	T	G22843660T	MMP14	NM_004995.4(MMP14):c.851-50G>T	noncoding	Benign
14	22843666	G	C	G22843666C	MMP14	NM_004995.4(MMP14):c.851-44G>C	noncoding	Benign
14	22843714	T	C	T22843714C	MMP14	NM_004995.4(MMP14):c.855T>C:p.Gly285=	coding	Benign
14	22843973	A	G	A22843973G	MMP14	NM_004995.4(MMP14):c.1011+103A>G	noncoding	Benign
14	22844178	C	G	C22844178G	MMP14	NM_004995.4(MMP14):c.1012-193C>G	noncoding	Benign
14	22844424	G	A	G22844424A	MMP14	NM_004995.4(MMP14):c.1065G>A:p.Met355Ile	coding	Benign
14	22844481	G	A	G22844481A	MMP14	NM_004995.4(MMP14):c.1122G>A:p.Arg374=	coding	Benign
14	22845466	C	T	C22845466T	MMP14	NM_004995.4(MMP14):c.1417+100C>T	noncoding	Benign
14	22846052	G	T	G22846052T	MMP14	NM_004995.4(MMP14):c.*13G>T	noncoding	Benign
14	22846122	T	C	T22846122C	MMP14	NM_004995.4(MMP14):c.*83T>C	noncoding	Benign
14	22872119	A	G	A22872119G	LRP10	NM_014045.5(LRP10):c.-185A>G	noncoding	Benign
14	22872457	G	C	G22872457C	LRP10	NM_014045.5(LRP10):c.34+120G>C	noncoding	Benign
14	22872742	C	T	C22872742T	LRP10	NM_014045.5(LRP10):c.39C>T:p.Gly13=	coding	Benign
14	22875363	A	G	A22875363G	LRP10	NM_014045.5(LRP10):c.415A>G:p.Met139Val	coding	Benign
14	22884857	G	C	G22884857C	REM2	NM_173527.3(REM2):c.287G>C:p.Gly96Ala	coding	Benign
14	23102235	C	A	C23102235A	CIROP	NM_001354640.2(CIROP):c.1166G>T:p.Arg389Ile	noncoding	Pathogenic
14	23102250	G	A	G23102250A	CIROP	NM_001354640.2(CIROP):c.1151C>T:p.Ser384Leu	noncoding	Pathogenic
14	23102441	C	T	C23102441T	CIROP	NM_001354640.2(CIROP):c.1037G>A:p.Trp346Ter	noncoding	Pathogenic
14	23103707	G	A	G23103707A	CIROP	NM_001354640.2(CIROP):c.571C>T:p.Arg191Ter	noncoding	Pathogenic
14	23104829	G	A	G23104829A	CIROP	NM_001354640.2(CIROP):c.92C>T:p.Ser31Phe	noncoding	Pathogenic
14	23117677	C	T	C23117677T	CEBPE	NM_001805.4(CEBPE):c.656G>A:p.Arg219His	coding	Pathogenic
14	23117837	A	C	A23117837C	CEBPE	NM_001805.4(CEBPE):c.511-15T>G	noncoding	Benign
14	23117846	C	T	C23117846T	CEBPE	NM_001805.4(CEBPE):c.511-24G>A	noncoding	Benign
14	23118689	G	A	G23118689A	CEBPE	NM_001805.4(CEBPE):c.403C>T:p.Arg135Ter	coding	Pathogenic
14	23119522	G	C	G23119522C	CEBPE	Single_allele	noncoding	Benign
14	23321310	A	G	A23321310G	PABPN1	NM_001199864.3(BCL2L2-PABPN1):c.433-871A>G	coding	Benign
14	23322013	T	G	T23322013G	PABPN1	NM_004643.4(PABPN1):c.352-168T>G	noncoding	Benign
14	23322810	T	C	T23322810C	PABPN1	NM_004643.4(PABPN1):c.467-189T>C	noncoding	Benign
14	23323006	G	A	G23323006A	PABPN1	NM_004643.4(PABPN1):c.474G>A:p.Pro158=	coding	Benign
14	23323207	A	C	A23323207C	PABPN1	NM_004643.4(PABPN1):c.534+141A>C	noncoding	Benign
14	23323646	C	T	C23323646T	PABPN1	NM_004643.4(PABPN1):c.641+163C>T	noncoding	Benign
14	23324096	C	T	C23324096T	PABPN1	NM_004643.4(PABPN1):c.730-42C>T	noncoding	Benign
14	23324992	C	T	C23324992T	PABPN1	NM_004643.4(PABPN1):c.882-255C>T	noncoding	Benign
14	23325115	A	G	A23325115G	PABPN1	NM_004643.4(PABPN1):c.882-132A>G	noncoding	Benign
14	23382064	C	T	C23382064T	MYH6	NM_002471.4(MYH6):c.5797-1G>A	coding	Pathogenic
14	23383322	T	G	T23383322G	MYH6	NM_002471.4(MYH6):c.5566-2A>C	noncoding	Benign
14	23383328	T	G	T23383328G	MYH6	NM_002471.4(MYH6):c.5566-8A>C	noncoding	Benign
14	23383332	A	G	A23383332G	MYH6	NM_002471.4(MYH6):c.5566-12T>C	noncoding	Benign
14	23384434	C	T	C23384434T	MYH6	NM_002471.4(MYH6):c.5565+8G>A	noncoding	Benign/Likely_benign
14	23385979	C	T	C23385979T	MYH6	NM_002471.4(MYH6):c.5112G>A:p.Ala1704=	coding	Benign/Likely_benign
14	23387745	A	G	A23387745G	MYH6	NM_002471.4(MYH6):c.4525+13T>C	noncoding	Benign/Likely_benign
14	23388184	G	A	G23388184A	MYH6	NM_002471.4(MYH6):c.4330C>T:p.Leu1444=	coding	Benign/Likely_benign
14	23388975	T	C	T23388975C	MYH6	NM_002471.4(MYH6):c.4059A>G:p.Thr1353=	coding	Benign/Likely_benign
14	23389068	G	T	G23389068T	MYH6	NM_002471.4(MYH6):c.3979-13C>A	noncoding	Benign/Likely_benign
14	23389069	G	T	G23389069T	MYH6	NM_002471.4(MYH6):c.3979-14C>A	noncoding	Benign/Likely_benign
14	23389468	C	T	C23389468T	MYH6	NM_002471.4(MYH6):c.3903G>A:p.Ser1301=	coding	Benign/Likely_benign
14	23392667	T	G	T23392667G	MYH6	NM_002471.4(MYH6):c.3252-15A>C	noncoding	Benign
14	23394327	G	T	G23394327T	MYH6	NM_002471.4(MYH6):c.2430-4C>A	noncoding	Benign/Likely_benign
14	23394337	G	A	G23394337A	MYH6	NM_002471.4(MYH6):c.2430-14C>T	noncoding	Benign/Likely_benign
14	23396270	T	G	T23396270G	MYH6	NM_002471.4(MYH6):c.2429+14A>C	noncoding	Benign/Likely_benign
14	23396432	G	C	G23396432C	MYH6	NM_002471.4(MYH6):c.2293-12C>G	noncoding	Benign/Likely_benign
14	23400352	G	A	G23400352A	MYH6	NM_002471.4(MYH6):c.1485C>T:p.Phe495=	coding	Benign/Likely_benign
14	23402631	G	T	G23402631T	MYH6	NM_002471.4(MYH6):c.1003-29C>A	noncoding	Benign
14	23402760	G	A	G23402760A	MYH6	NM_002471.4(MYH6):c.939C>T:p.Phe313=	coding	Benign/Likely_benign
14	23404353	G	A	G23404353A	MYH6	NM_002471.4(MYH6):c.678C>T:p.Pro226=	coding	Benign/Likely_benign
14	23404695	G	A	G23404695A	MYH6	NM_002471.4(MYH6):c.642+16C>T	noncoding	Benign
14	23407231	C	T	C23407231T	MYH6	NM_002471.4(MYH6):c.-8G>A	noncoding	Benign/Likely_benign
14	23412700	G	A	G23412700A	MYH7	Single_allele	noncoding	Benign
14	23412711	G	T	G23412711T	MYH7	Single_allele	noncoding	Benign
14	23412935	T	C	T23412935C	MYH7	NM_000257.4(MYH7):c.5791-64A>G	noncoding	Benign
14	23413776	G	C	G23413776C	MYH7	NM_000257.4(MYH7):c.5773C>G:p.Arg1925Gly	coding	Pathogenic/Likely_pathogenic
14	23414195	C	G	C23414195G	MYH7	NM_000257.4(MYH7):c.5560-93G>C	noncoding	Benign
14	23415070	G	A	G23415070A	MYH7	NM_000257.4(MYH7):c.5484C>T:p.Ala1828=	coding	Benign/Likely_benign
14	23415073	C	T	C23415073T	MYH7	NM_000257.4(MYH7):c.5481G>A:p.Glu1827=	coding	Benign/Likely_benign
14	23415130	G	T	G23415130T	MYH7	NM_000257.4(MYH7):c.5424C>A:p.Gly1808=	coding	Benign
14	23415133	G	A	G23415133A	MYH7	NM_000257.4(MYH7):c.5421C>T:p.Gly1807=	coding	Benign/Likely_benign
14	23415154	G	A	G23415154A	MYH7	NM_000257.4(MYH7):c.5400C>T:p.Ala1800=	coding	Benign/Likely_benign
14	23415410	C	T	C23415410T	MYH7	NM_000257.4(MYH7):c.5254G>A:p.Glu1752Lys	coding	Pathogenic/Likely_pathogenic
14	23415563	T	A	T23415563A	MYH7	NM_000257.4(MYH7):c.5158-57A>T	noncoding	Benign
14	23415584	C	T	C23415584T	MYH7	NM_000257.4(MYH7):c.5157+45G>A	noncoding	Benign
14	23415594	T	C	T23415594C	MYH7	NM_000257.4(MYH7):c.5157+35A>G	noncoding	Benign
14	23415647	C	T	C23415647T	MYH7	NM_000257.4(MYH7):c.5139G>A:p.Val1713=	coding	Benign/Likely_benign
14	23415651	C	T	C23415651T	MYH7	NM_000257.4(MYH7):c.5135G>A:p.Arg1712Gln	coding	Pathogenic
14	23415987	C	T	C23415987T	MYH7	NM_000257.4(MYH7):c.4953+17G>A	noncoding	Benign/Likely_benign
14	23416167	A	G	A23416167G	MYH7	NM_000257.4(MYH7):c.4790T>C:p.Leu1597Pro	coding	Pathogenic
14	23416306	G	A	G23416306A	MYH7	NM_000257.4(MYH7):c.4651C>T:p.Leu1551=	coding	Benign
14	23416508	G	A	G23416508A	MYH7	NM_000257.4(MYH7):c.4645-196C>T	noncoding	Benign
14	23416678	G	A	G23416678A	MYH7	NM_000257.4(MYH7):c.4644+190C>T	noncoding	Benign
14	23416788	G	A	G23416788A	MYH7	NM_000257.4(MYH7):c.4644+80C>T	noncoding	Benign
14	23416811	G	C	G23416811C	MYH7	NM_000257.4(MYH7):c.4644+57C>G	noncoding	Benign
14	23416844	C	A	C23416844A	MYH7	NM_000257.4(MYH7):c.4644+24G>T	noncoding	Benign/Likely_benign
14	23416871	G	A	G23416871A	MYH7	NM_000257.4(MYH7):c.4641C>T:p.Ala1547=	coding	Benign/Likely_benign
14	23417007	C	T	C23417007T	MYH7	NM_000257.4(MYH7):c.4520-15G>A	coding	Benign/Likely_benign
14	23417030	G	C	G23417030C	MYH7	NM_000257.4(MYH7):c.4520-38C>G	noncoding	Benign
14	23417034	T	A	T23417034A	MYH7	NM_000257.4(MYH7):c.4520-42A>T	noncoding	Benign
14	23417055	C	T	C23417055T	MYH7	NM_000257.4(MYH7):c.4520-63G>A	noncoding	Benign
14	23417144	C	G	C23417144G	MYH7	NM_000257.4(MYH7):c.4519+9G>C	noncoding	Benign/Likely_benign
14	23417483	G	A	G23417483A	MYH7	NM_000257.4(MYH7):c.4353+20C>T	noncoding	Benign/Likely_benign
14	23417494	A	C	A23417494C	MYH7	NM_000257.4(MYH7):c.4353+9T>G	noncoding	Benign
14	23417530	C	T	C23417530T	MYH7	NM_000257.4(MYH7):c.4326G>A:p.Leu1442=	coding	Benign/Likely_benign
14	23417668	C	A	C23417668A	MYH7	NM_000257.4(MYH7):c.4188G>T:p.Arg1396=	coding	Benign/Likely_benign
14	23417953	C	T	C23417953T	MYH7	NM_000257.4(MYH7):c.4169+257G>A	noncoding	Benign
14	23418249	G	A	G23418249A	MYH7	NM_000257.4(MYH7):c.4130C>T:p.Thr1377Met	coding	Pathogenic
14	23418313	C	T	C23418313T	MYH7	NM_000257.4(MYH7):c.4066G>A:p.Glu1356Lys	coding	Pathogenic
14	23418326	C	T	C23418326T	MYH7	NM_000257.4(MYH7):c.4053G>A:p.Thr1351=	coding	Benign/Likely_benign
14	23418418	T	G	T23418418G	MYH7	NM_000257.4(MYH7):c.3973-12A>C	noncoding	Benign/Likely_benign
14	23418481	C	T	C23418481T	MYH7	NM_000257.4(MYH7):c.3973-75G>A	noncoding	Benign
14	23419207	G	A	G23419207A	MYH7	NM_000257.4(MYH7):c.3942C>T:p.Asp1314=	coding	Benign/Likely_benign
14	23419326	C	G	C23419326G	MYH7	NM_000257.4(MYH7):c.3854-31G>C	noncoding	Benign
14	23419490	G	T	G23419490T	MYH7	NM_000257.4(MYH7):c.3846C>A:p.Thr1282=	coding	Benign
14	23419523	G	A	G23419523A	MYH7	NM_000257.4(MYH7):c.3813C>T:p.Asn1271=	coding	Benign/Likely_benign
14	23419532	A	G	A23419532G	MYH7	NM_000257.4(MYH7):c.3804T>C:p.Arg1268=	coding	Benign
14	23419627	G	A	G23419627A	MYH7	NM_000257.4(MYH7):c.3727-18C>T	noncoding	Benign
14	23420004	G	A	G23420004A	MYH7	NM_000257.4(MYH7):c.3567C>T:p.Ala1189=	coding	Benign/Likely_benign
14	23422267	C	T	C23422267T	MYH7	NM_000257.4(MYH7):c.3158G>A:p.Arg1053Gln	coding	Pathogenic
14	23423601	G	A	G23423601A	MYH7	NM_000257.4(MYH7):c.3045C>T:p.Asp1015=	coding	Benign/Likely_benign
14	23423967	G	A	G23423967A	MYH7	NM_000257.4(MYH7):c.2862C>T:p.Ile954=	coding	Benign/Likely_benign
14	23423970	G	A	G23423970A	MYH7	NM_000257.4(MYH7):c.2859C>T:p.Asp953=	coding	Benign/Likely_benign
14	23424050	C	T	C23424050T	MYH7	NM_000257.4(MYH7):c.2779G>A:p.Glu927Lys	coding	Pathogenic/Likely_pathogenic
14	23424119	G	A	G23424119A	MYH7	NM_000257.4(MYH7):c.2710C>T:p.Arg904Cys	coding	Pathogenic
14	23424876	G	A	G23424876A	MYH7	NM_000257.4(MYH7):c.2572C>T:p.Arg858Cys	coding	Pathogenic/Likely_pathogenic
14	23424909	T	C	T23424909C	MYH7	NM_000257.4(MYH7):c.2539A>G:p.Lys847Glu	coding	Pathogenic
14	23424949	G	A	G23424949A	MYH7	NM_000257.4(MYH7):c.2499C>T:p.Tyr833=	coding	Benign/Likely_benign
14	23424981	C	G	C23424981G	MYH7	NM_000257.4(MYH7):c.2467G>C:p.Gly823Arg	coding	Pathogenic
14	23425356	G	A	G23425356A	MYH7	NM_000257.4(MYH7):c.2349C>T:p.Arg783=	coding	Benign/Likely_benign
14	23425737	G	A	G23425737A	MYH7	NM_000257.4(MYH7):c.2244C>T:p.Ser748=	coding	Benign/Likely_benign
14	23425759	C	T	C23425759T	MYH7	NM_000257.4(MYH7):c.2222G>A:p.Gly741Glu	coding	Pathogenic/Likely_pathogenic
14	23425874	T	C	T23425874C	MYH7	NM_000257.4(MYH7):c.2163-56A>G	noncoding	Benign
14	23425976	T	G	T23425976G	MYH7	NM_000257.4(MYH7):c.2150A>C:p.Asp717Ala	coding	Pathogenic
14	23426039	T	C	T23426039C	MYH7	NM_000257.4(MYH7):c.2087A>G:p.Asn696Ser	coding	Pathogenic/Likely_pathogenic
14	23426092	A	C	A23426092C	MYH7	NM_000257.4(MYH7):c.2045-11T>G	noncoding	Benign/Likely_benign
14	23426101	G	T	G23426101T	MYH7	NM_000257.4(MYH7):c.2045-20C>A	noncoding	Benign
14	23427189	T	G	T23427189G	MYH7	NM_000257.4(MYH7):c.1956+51A>C	noncoding	Benign
14	23427241	C	T	C23427241T	MYH7	NM_000257.4(MYH7):c.1955G>A:p.Arg652Lys	coding	Pathogenic
14	23427345	G	A	G23427345A	MYH7	NM_000257.4(MYH7):c.1889-38C>T	noncoding	Benign
14	23427911	G	A	G23427911A	MYH7	NM_000257.4(MYH7):c.1579-17C>T	noncoding	Benign
14	23427941	G	A	G23427941A	MYH7	NM_000257.4(MYH7):c.1579-47C>T	noncoding	Benign/Likely_benign
14	23428820	A	T	A23428820T	MYH7	NM_000257.4(MYH7):c.1407+135T>A	noncoding	Benign
14	23429039	C	T	C23429039T	MYH7	NM_000257.4(MYH7):c.1323G>A:p.Thr441=	coding	Benign/Likely_benign
14	23429040	G	A	G23429040A	MYH7	NM_000257.4(MYH7):c.1322C>T:p.Thr441Met	coding	Benign
14	23429085	G	A	G23429085A	MYH7	NM_000257.4(MYH7):c.1277C>T:p.Ala426Val	coding	Pathogenic
14	23429235	G	C	G23429235C	MYH7	NM_000257.4(MYH7):c.1251C>G:p.Val417=	coding	Benign/Likely_benign
14	23429304	G	T	G23429304T	MYH7	NM_000257.4(MYH7):c.1182C>A:p.Asp394Glu	coding	Pathogenic/Likely_pathogenic
14	23429830	G	A	G23429830A	MYH7	NM_000257.4(MYH7):c.1083C>T:p.Asn361=	coding	Benign/Likely_benign
14	23429862	T	C	T23429862C	MYH7	NM_000257.4(MYH7):c.1051A>G:p.Lys351Glu	coding	Pathogenic/Likely_pathogenic
14	23429863	A	G	A23429863G	MYH7	NM_000257.4(MYH7):c.1050T>C:p.Tyr350=	coding	Benign/Likely_benign
14	23429951	G	T	G23429951T	MYH7	NM_000257.4(MYH7):c.1000-38C>A	noncoding	Benign
14	23430680	G	A	G23430680A	MYH7	NM_000257.4(MYH7):c.896-17C>T	noncoding	Benign
14	23430761	G	A	G23430761A	MYH7	NM_000257.4(MYH7):c.896-98C>T	noncoding	Benign
14	23431016	A	G	A23431016G	MYH7	NM_000257.4(MYH7):c.797-17T>C	noncoding	Benign/Likely_benign
14	23431437	T	A	T23431437A	MYH7	NM_000257.4(MYH7):c.777A>T:p.Ala259=	coding	Benign
14	23431442	A	G	A23431442G	MYH7	NM_000257.4(MYH7):c.772T>C:p.Leu258=	coding	Benign
14	23431449	T	A	T23431449A	MYH7	NM_000257.4(MYH7):c.765A>T:p.Thr255=	coding	Benign
14	23431695	G	A	G23431695A	MYH7	NM_000257.4(MYH7):c.640-18C>T	noncoding	Benign/Likely_benign
14	23431729	C	T	C23431729T	MYH7	NM_000257.4(MYH7):c.639+32G>A	noncoding	Benign
14	23431896	G	T	G23431896T	MYH7	NM_000257.4(MYH7):c.531-27C>A	noncoding	Benign
14	23432373	G	C	G23432373C	MYH7	NM_000257.4(MYH7):c.530+106C>G	noncoding	Benign
14	23432714	G	A	G23432714A	MYH7	NM_000257.4(MYH7):c.427C>T:p.Arg143Trp	coding	Pathogenic/Likely_pathogenic
14	23432831	C	T	C23432831T	MYH7	NM_000257.4(MYH7):c.346-36G>A	noncoding	Benign
14	23433060	C	T	C23433060T	MYH7	NM_000257.4(MYH7):c.345+24G>A	noncoding	Benign/Likely_benign
14	23433383	C	A	C23433383A	MYH7	NM_000257.4(MYH7):c.201+149G>T	noncoding	Benign
14	23433385	C	G	C23433385G	MYH7	NM_000257.4(MYH7):c.201+147G>C	noncoding	Benign
14	23433388	T	G	T23433388G	MYH7	NM_000257.4(MYH7):c.201+144A>C	noncoding	Benign
14	23433649	G	C	G23433649C	MYH7	NM_000257.4(MYH7):c.84C>G:p.Thr28=	coding	Benign/Likely_benign
14	23433721	C	T	C23433721T	MYH7	NM_000257.4(MYH7):c.12G>A:p.Ser4=	coding	Benign/Likely_benign
14	23433765	C	A	C23433765A	MYH7	NM_000257.4(MYH7):c.-8-25G>T	noncoding	Benign
14	23434171	A	G	A23434171G	MYH7	NM_000257.4(MYH7):c.-9+23T>C	noncoding	Benign
14	23434245	G	A	G23434245A	MYH7	NM_000257.4(MYH7):c.-60C>T	noncoding	Benign
14	23435624	G	C	G23435624C	MYH7	NM_000257.4(MYH7):c.-69C>G	noncoding	Benign
14	23435667	A	C	A23435667C	MYH7	Single_allele	noncoding	Benign
14	23523533	T	G	T23523533G	ZFHX2	NM_033400.3(ZFHX2):c.6409A>C:p.Ser2137Arg	coding	Benign
14	23525308	A	G	A23525308G	ZFHX2	NM_033400.3(ZFHX2):c.4634T>C:p.Val1545Ala	coding	Benign
14	23527563	A	G	A23527563G	ZFHX2	NM_033400.3(ZFHX2):c.3135+41T>C	noncoding	Benign
14	23530097	G	A	G23530097A	ZFHX2	NM_033400.3(ZFHX2):c.2875+23C>T	noncoding	Benign
14	24081247	G	A	G24081247A	NRL	NM_001354768.3(NRL):c.703C>T:p.Leu235Phe	coding	Benign
14	24081434	G	T	G24081434T	NRL	NM_001354768.3(NRL):c.516C>A:p.Tyr172Ter	coding	Pathogenic/Likely_pathogenic
14	24081500	C	G	C24081500G	NRL	NM_001354768.3(NRL):c.450G>C:p.Arg150=	coding	Benign
14	24082510	G	C	G24082510C	NRL	NM_001354768.3(NRL):c.339C>G:p.Tyr113Ter	coding	Pathogenic/Likely_pathogenic
14	24082611	G	A	G24082611A	NRL	NM_001354768.3(NRL):c.238C>T:p.Gln80Ter	coding	Pathogenic
14	24097052	G	A	G24097052A	PCK2	NM_004563.4(PCK2):c.190G>A:p.Asp64Asn	coding	Benign
14	24098455	G	A	G24098455A	PCK2	NM_004563.4(PCK2):c.461-20G>A	noncoding	Benign
14	24099114	C	T	C24099114T	PCK2	NM_004563.4(PCK2):c.730C>T:p.Arg244Trp	coding	Benign
14	24099131	C	T	C24099131T	PCK2	NM_004563.4(PCK2):c.747C>T:p.Phe249=	coding	Benign
14	24103500	T	C	T24103500C	PCK2	NM_001354768.3(NRL):c.-28+11222A>G	noncoding	Benign
14	24103507	C	A	C24103507A	PCK2	NM_004563.4(PCK2):c.1469-3C>A	noncoding	Benign
14	24147859	C	T	C24147859T	RNF31	NM_017999.5(RNF31):c.161C>T:p.Ala54Val	coding	Benign
14	24148029	C	T	C24148029T	RNF31	NM_017999.5(RNF31):c.246C>T:p.Tyr82=	coding	Benign
14	24148065	C	T	C24148065T	RNF31	NM_017999.5(RNF31):c.282C>T:p.Tyr94=	coding	Benign
14	24148333	G	A	G24148333A	RNF31	NM_017999.5(RNF31):c.415G>A:p.Glu139Lys	coding	Benign
14	24148425	C	G	C24148425G	RNF31	NM_017999.5(RNF31):c.495+12C>G	coding	Benign
14	24148689	G	A	G24148689A	RNF31	NM_017999.5(RNF31):c.543G>A:p.Lys181=	coding	Benign
14	24150046	G	A	G24150046A	RNF31	NM_017999.5(RNF31):c.810-15G>A	noncoding	Benign
14	24150133	C	T	C24150133T	RNF31	NM_017999.5(RNF31):c.882C>T:p.Ser294=	coding	Benign
14	24150421	T	C	T24150421C	RNF31	NM_017999.5(RNF31):c.1170T>C:p.Asp390=	coding	Benign
14	24151550	C	T	C24151550T	RNF31	NM_017999.5(RNF31):c.1803C>T:p.His601=	coding	Benign
14	24151664	C	T	C24151664T	RNF31	NM_017999.5(RNF31):c.1917C>T:p.Asp639=	coding	Benign
14	24151667	G	A	G24151667A	RNF31	NM_017999.5(RNF31):c.1920G>A:p.Lys640=	coding	Benign
14	24152009	G	A	G24152009A	RNF31	NM_017999.5(RNF31):c.2130+17G>A	noncoding	Benign
14	24152011	T	C	T24152011C	RNF31	NM_017999.5(RNF31):c.2130+19T>C	noncoding	Benign
14	24155532	C	G	C24155532G	RNF31	NM_017999.5(RNF31):c.2403+20C>G	noncoding	Benign
14	24157421	C	T	C24157421T	RNF31	NM_017999.5(RNF31):c.2608+17C>T	noncoding	Benign
14	24159851	C	T	C24159851T	RNF31	NM_017999.5(RNF31):c.2900-13C>T	noncoding	Benign
14	24159892	G	A	G24159892A	RNF31	NM_017999.5(RNF31):c.2928G>A:p.Glu976=	coding	Benign
14	24160500	C	T	C24160500T	RNF31	NM_017999.5(RNF31):c.3166-20C>T	noncoding	Benign
14	24160535	G	A	G24160535A	RNF31	NM_017999.5(RNF31):c.3181G>A:p.Val1061Ile	coding	Benign
14	24163515	G	A	G24163515A	IRF9	NM_006084.5(IRF9):c.495+7G>A	noncoding	Benign
14	24164660	C	T	C24164660T	IRF9	NM_006084.5(IRF9):c.696C>T:p.Gly232=	coding	Benign
14	24164964	G	A	G24164964A	IRF9	NM_006084.5(IRF9):c.991+9G>A	noncoding	Benign
14	24240248	A	T	A24240248T	TINF2	NM_001099274.3(TINF2):c.1129+15T>A	coding	Benign
14	24240421	C	T	C24240421T	TINF2	NM_001099274.3(TINF2):c.1059G>A:p.Lys353=	coding	Benign/Likely_benign
14	24240665	C	T	C24240665T	TINF2	NM_001099274.3(TINF2):c.815G>A:p.Trp272Ter	coding	Pathogenic
14	24241219	T	C	T24241219C	TINF2	NM_001099274.3(TINF2):c.492A>G:p.Thr164=	coding	Benign/Likely_benign
14	24242083	G	A	G24242083A	TINF2	NM_001099274.3(TINF2):c.192+58C>T	noncoding	Benign
14	24242888	G	C	G24242888C	TINF2	Single_allele	noncoding	Benign
14	24249309	G	A	G24249309A	TGM1	NM_000359.3(TGM1):c.*4C>T	noncoding	Benign
14	24254133	G	A	G24254133A	TGM1	NM_000359.3(TGM1):c.2225+19C>T	noncoding	Benign
14	24254287	A	C	A24254287C	TGM1	NM_000359.3(TGM1):c.2090T>G:p.Leu697Ter	coding	Pathogenic
14	24254592	C	T	C24254592T	TGM1	NM_000359.3(TGM1):c.2088+72G>A	noncoding	Benign
14	24254692	C	T	C24254692T	TGM1	NM_000359.3(TGM1):c.2060G>A:p.Arg687His	coding	Pathogenic
14	24254796	G	T	G24254796T	TGM1	NM_000359.3(TGM1):c.1956C>A:p.Tyr652Ter	coding	Pathogenic
14	24254871	A	C	A24254871C	TGM1	NM_000359.3(TGM1):c.1928-47T>G	noncoding	Benign
14	24254952	G	A	G24254952A	TGM1	NM_000359.3(TGM1):c.1927+20C>T	noncoding	Benign
14	24255125	G	A	G24255125A	TGM1	NM_000359.3(TGM1):c.1774C>T:p.Gln592Ter	coding	Pathogenic
14	24255149	C	A	C24255149A	TGM1	NM_000359.3(TGM1):c.1750G>T:p.Glu584Ter	coding	Pathogenic
14	24255363	C	A	C24255363A	TGM1	NM_000359.3(TGM1):c.1645+1G>T	noncoding	Pathogenic/Likely_pathogenic
14	24255568	T	C	T24255568C	TGM1	NM_000359.3(TGM1):c.1492-51A>G	noncoding	Benign
14	24255935	G	A	G24255935A	TGM1	NM_000359.3(TGM1):c.1491+54C>T	noncoding	Benign
14	24256042	T	A	T24256042A	TGM1	NM_000359.3(TGM1):c.1438A>T:p.Ile480Phe	coding	Pathogenic
14	24256350	G	C	G24256350C	TGM1	NM_000359.3(TGM1):c.1403-273C>G	noncoding	Benign
14	24258569	T	A	T24258569A	TGM1	NM_000359.3(TGM1):c.1264A>T:p.Lys422Ter	coding	Pathogenic
14	24258647	G	A	G24258647A	TGM1	NM_000359.3(TGM1):c.1186C>T:p.Arg396Cys	coding	Pathogenic/Likely_pathogenic
14	24259745	G	A	G24259745A	TGM1	NM_000359.3(TGM1):c.943C>T:p.Arg315Cys	coding	Pathogenic/Likely_pathogenic
14	24259768	C	T	C24259768T	TGM1	NM_000359.3(TGM1):c.920G>A:p.Arg307Gln	coding	Benign
14	24260528	G	A	G24260528A	TGM1	NM_000359.3(TGM1):c.679C>T:p.Gln227Ter	coding	Pathogenic/Likely_pathogenic
14	24260546	G	A	G24260546A	TGM1	NM_000359.3(TGM1):c.661C>T:p.Gln221Ter	coding	Pathogenic
14	24260555	C	T	C24260555T	TGM1	NM_000359.3(TGM1):c.652G>A:p.Gly218Ser	coding	Pathogenic/Likely_pathogenic
14	24260600	G	A	G24260600A	TGM1	NM_000359.3(TGM1):c.607C>T:p.Gln203Ter	coding	Pathogenic
14	24260628	C	T	C24260628T	TGM1	NM_000359.3(TGM1):c.579G>A:p.Trp193Ter	coding	Pathogenic/Likely_pathogenic
14	24260894	A	C	A24260894C	TGM1	NM_000359.3(TGM1):c.509-196T>G	noncoding	Benign
14	24261256	A	G	A24261256G	TGM1	NM_000359.3(TGM1):c.508+439T>C	noncoding	Benign
14	24261773	C	G	C24261773G	TGM1	NM_000359.3(TGM1):c.430G>C:p.Gly144Arg	coding	Pathogenic
14	24261783	T	C	T24261783C	TGM1	NM_000359.3(TGM1):c.420A>G:p.Ile140Met	coding	Pathogenic/Likely_pathogenic
14	24261802	T	C	T24261802C	TGM1	NM_000359.3(TGM1):c.401A>G:p.Tyr134Cys	coding	Pathogenic/Likely_pathogenic
14	24261803	A	G	A24261803G	TGM1	NM_000359.3(TGM1):c.400T>C:p.Tyr134His	coding	Pathogenic/Likely_pathogenic
14	24261924	A	T	A24261924T	TGM1	NM_000359.3(TGM1):c.320-41T>A	noncoding	Benign
14	24262142	G	A	G24262142A	TGM1	NM_000359.3(TGM1):c.211C>T:p.Arg71Ter	coding	Pathogenic
14	24263268	G	A	G24263268A	TGM1	NM_000359.3(TGM1):c.-182C>T	noncoding	Benign
14	28767364	C	T	C28767364T	FOXG1	NM_005249.5(FOXG1):c.85C>T:p.Gln29Ter	coding	Pathogenic
14	28767384	G	T	G28767384T	FOXG1	NM_005249.5(FOXG1):c.105G>T:p.Ala35=	coding	Benign/Likely_benign
14	28767460	C	T	C28767460T	FOXG1	NM_005249.5(FOXG1):c.181C>T:p.Pro61Ser	coding	Benign/Likely_benign
14	28767466	C	T	C28767466T	FOXG1	NM_005249.5(FOXG1):c.187C>T:p.Pro63Ser	coding	Benign
14	28767480	G	T	G28767480T	FOXG1	NM_005249.5(FOXG1):c.201G>T:p.Pro67=	coding	Benign
14	28767535	C	G	C28767535G	FOXG1	NM_005249.5(FOXG1):c.256C>G:p.Gln86Glu	coding	Benign/Likely_benign
14	28767587	T	A	T28767587A	FOXG1	NM_005249.5(FOXG1):c.308T>A:p.Leu103Gln	coding	Benign
14	28767601	C	T	C28767601T	FOXG1	NM_005249.5(FOXG1):c.322C>T:p.Pro108Ser	coding	Benign
14	28767641	C	G	C28767641G	FOXG1	NM_005249.5(FOXG1):c.362C>G:p.Ala121Gly	coding	Benign
14	28767709	G	T	G28767709T	FOXG1	NM_005249.5(FOXG1):c.430G>T:p.Glu144Ter	coding	Pathogenic
14	28767726	C	T	C28767726T	FOXG1	NM_005249.5(FOXG1):c.447C>T:p.Ala149=	coding	Benign
14	28767736	G	T	G28767736T	FOXG1	NM_005249.5(FOXG1):c.457G>T:p.Gly153Trp	coding	Benign
14	28767748	A	T	A28767748T	FOXG1	NM_005249.5(FOXG1):c.469A>T:p.Lys157Ter	coding	Pathogenic
14	28767796	G	T	G28767796T	FOXG1	NM_005249.5(FOXG1):c.517G>T:p.Glu173Ter	coding	Pathogenic
14	28767811	A	T	A28767811T	FOXG1	NM_005249.5(FOXG1):c.532A>T:p.Lys178Ter	coding	Pathogenic
14	28767816	C	G	C28767816G	FOXG1	NM_005249.5(FOXG1):c.537C>G:p.Tyr179Ter	coding	Pathogenic/Likely_pathogenic
14	28767822	G	C	G28767822C	FOXG1	NM_005249.5(FOXG1):c.543G>C:p.Lys181Asn	coding	Pathogenic
14	28767822	G	T	G28767822T	FOXG1	NM_005249.5(FOXG1):c.543G>T:p.Lys181Asn	coding	Pathogenic/Likely_pathogenic
14	28767824	C	A	C28767824A	FOXG1	NM_005249.5(FOXG1):c.545C>A:p.Pro182Gln	coding	Pathogenic
14	28767838	A	G	A28767838G	FOXG1	NM_005249.5(FOXG1):c.559A>G:p.Asn187Asp	coding	Pathogenic
14	28767838	A	T	A28767838T	FOXG1	NM_005249.5(FOXG1):c.559A>T:p.Asn187Tyr	coding	Pathogenic
14	28767844	C	T	C28767844T	FOXG1	NM_005249.5(FOXG1):c.565C>T:p.Leu189Phe	coding	Pathogenic
14	28767889	C	T	C28767889T	FOXG1	NM_005249.5(FOXG1):c.610C>T:p.Leu204Phe	coding	Pathogenic
14	28767924	C	G	C28767924G	FOXG1	NM_005249.5(FOXG1):c.645C>G:p.Phe215Leu	coding	Pathogenic
14	28767932	A	G	A28767932G	FOXG1	NM_005249.5(FOXG1):c.653A>G:p.Tyr218Cys	coding	Pathogenic/Likely_pathogenic
14	28767933	C	A	C28767933A	FOXG1	NM_005249.5(FOXG1):c.654C>A:p.Tyr218Ter	coding	Pathogenic
14	28767974	A	G	A28767974G	FOXG1	NM_005249.5(FOXG1):c.695A>G:p.Asn232Ser	coding	Pathogenic
14	28767982	C	T	C28767982T	FOXG1	NM_005249.5(FOXG1):c.703C>T:p.Leu235Phe	coding	Pathogenic/Likely_pathogenic
14	28768027	G	C	G28768027C	FOXG1	NM_005249.5(FOXG1):c.748G>C:p.Gly250Arg	coding	Pathogenic
14	28768042	T	C	T28768042C	FOXG1	NM_005249.5(FOXG1):c.763T>C:p.Trp255Arg	coding	Pathogenic
14	28768200	C	G	C28768200G	FOXG1	NM_005249.5(FOXG1):c.921C>G:p.Tyr307Ter	coding	Pathogenic
14	28768202	G	A	G28768202A	FOXG1	NM_005249.5(FOXG1):c.923G>A:p.Trp308Ter	coding	Pathogenic
14	28768390	G	T	G28768390T	FOXG1	NM_005249.5(FOXG1):c.1111G>T:p.Glu371Ter	coding	Pathogenic
14	28768437	C	G	C28768437G	FOXG1	NM_005249.5(FOXG1):c.1158C>G:p.Ala386=	coding	Benign/Likely_benign
14	28768498	G	C	G28768498C	FOXG1	NM_005249.5(FOXG1):c.1219G>C:p.Val407Leu	coding	Benign
14	28768534	C	T	C28768534T	FOXG1	NM_005249.5(FOXG1):c.1255C>T:p.Pro419Ser	coding	Benign
14	28768602	C	T	C28768602T	FOXG1	NM_005249.5(FOXG1):c.1323C>T:p.Ser441=	coding	Benign
14	28768669	A	G	A28768669G	FOXG1	NM_005249.5(FOXG1):c.1390A>G:p.Thr464Ala	coding	Benign
14	29578374	C	T	C29578374T	PRKD1	NM_002742.3(PRKD1):c.2435-14G>A	noncoding	Benign
14	29597723	A	G	A29597723G	PRKD1	NM_002742.3(PRKD1):c.2202T>C:p.Ile734=	coding	Benign
14	29597770	A	T	A29597770T	PRKD1	NM_002742.3(PRKD1):c.2167-12T>A	noncoding	Benign
14	29598988	T	G	T29598988G	PRKD1	NM_002742.3(PRKD1):c.2166+39A>C	noncoding	Benign
14	29725693	T	C	T29725693C	PRKD1	NM_002742.3(PRKD1):c.265-19A>G	noncoding	Benign
14	30875200	T	G	T30875200G	COCH	NM_004086.3(COCH):c.82+97T>G	noncoding	Benign
14	30875277	C	T	C30875277T	COCH	NM_004086.3(COCH):c.82+174C>T	noncoding	Benign
14	30877360	G	C	G30877360C	COCH	NM_004086.3(COCH):c.83-212G>C	noncoding	Benign
14	30877867	C	T	C30877867T	COCH	NM_004086.3(COCH):c.239+139C>T	noncoding	Benign
14	30878503	A	G	A30878503G	COCH	NM_004086.3(COCH):c.240-308A>G	noncoding	Benign
14	30878572	A	T	A30878572T	COCH	NM_004086.3(COCH):c.240-239A>T	noncoding	Benign
14	30878830	G	T	G30878830T	COCH	NM_004086.3(COCH):c.259G>T:p.Gly87Trp	coding	Pathogenic/Likely_pathogenic
14	30878912	T	C	T30878912C	COCH	NM_004086.3(COCH):c.341T>C:p.Leu114Pro	coding	Pathogenic
14	30878967	T	C	T30878967C	COCH	NM_004086.3(COCH):c.373+23T>C	noncoding	Benign
14	30880264	C	A	C30880264A	COCH	NM_004086.3(COCH):c.437-188C>A	noncoding	Benign
14	30880388	A	G	A30880388G	COCH	NM_004086.3(COCH):c.437-64A>G	noncoding	Benign
14	30884345	A	C	A30884345C	COCH	NM_004086.3(COCH):c.630-208A>C	noncoding	Benign
14	30884709	C	G	C30884709G	COCH	NM_004086.3(COCH):c.733+53C>G	noncoding	Benign
14	30885090	T	G	T30885090G	COCH	NM_004086.3(COCH):c.734-304T>G	noncoding	Benign
14	30885168	A	T	A30885168T	COCH	NM_004086.3(COCH):c.734-226A>T	noncoding	Benign
14	30885761	C	T	C30885761T	COCH	NM_004086.3(COCH):c.961-35C>T	coding	Benign
14	30886086	G	A	G30886086A	COCH	NM_004086.3(COCH):c.1251G>A:p.Thr417=	coding	Benign/Likely_benign
14	30886330	T	C	T30886330C	COCH	NM_004086.3(COCH):c.1477+18T>C	noncoding	Benign
14	30889390	A	C	A30889390C	COCH	NM_004086.3(COCH):c.1478-226A>C	coding	Benign
14	30889396	C	T	C30889396T	COCH	NM_004086.3(COCH):c.1478-220C>T	coding	Benign
14	30889439	T	C	T30889439C	COCH	NM_004086.3(COCH):c.1478-177T>C	coding	Benign
14	30889762	T	C	T30889762C	COCH	NM_004086.3(COCH):c.1624T>C:p.Cys542Arg	coding	Pathogenic
14	31065911	C	T	C31065911T	AP4S1	NM_001128126.3(AP4S1):c.-71-215C>T	noncoding	Benign
14	31066397	G	C	G31066397C	AP4S1	NM_001128126.3(AP4S1):c.138+63G>C	noncoding	Benign
14	31066550	C	G	C31066550G	AP4S1	NM_001128126.3(AP4S1):c.138+216C>G	noncoding	Benign
14	31069778	C	G	C31069778G	AP4S1	NM_001128126.3(AP4S1):c.139-65C>G	noncoding	Benign
14	31072968	C	T	C31072968T	AP4S1	NM_001128126.3(AP4S1):c.289C>T:p.Arg97Ter	coding	Pathogenic/Likely_pathogenic
14	31080413	T	C	T31080413C	AP4S1	NM_001128126.3(AP4S1):c.295-160T>C	noncoding	Benign
14	31080539	T	G	T31080539G	AP4S1	NM_001128126.3(AP4S1):c.295-34T>G	noncoding	Benign
14	31113320	T	C	T31113320C	HECTD1	NM_015382.4(HECTD1):c.6021A>G:p.Leu2007=	coding	Benign
14	31178035	G	A	G31178035A	HECTD1	NM_015382.4(HECTD1):c.360C>T:p.Ala120=	coding	Benign
14	31178242	G	A	G31178242A	HECTD1	NM_015382.4(HECTD1):c.153C>T:p.Arg51=	coding	Benign
14	31561189	T	G	T31561189G	NUBPL	Single_allele	noncoding	Benign
14	31562039	C	T	C31562039T	NUBPL	NM_025152.3(NUBPL):c.109-29C>T	noncoding	Benign
14	31564941	A	T	A31564941T	NUBPL	NM_025152.3(NUBPL):c.257-73A>T	noncoding	Benign
14	31578011	T	C	T31578011C	NUBPL	NM_025152.3(NUBPL):c.291+12963T>C	coding	Benign
14	31673223	G	A	G31673223A	NUBPL	NM_025152.3(NUBPL):c.383-132G>A	noncoding	Benign
14	31673695	C	T	C31673695T	NUBPL	NM_025152.3(NUBPL):c.513+121C>T	noncoding	Benign
14	31826566	T	A	T31826566A	NUBPL	NM_025152.3(NUBPL):c.608-63T>A	noncoding	Benign
14	31826613	G	A	G31826613A	NUBPL	NM_025152.3(NUBPL):c.608-16G>A	noncoding	Benign/Likely_benign
14	31826733	A	G	A31826733G	NUBPL	NM_025152.3(NUBPL):c.693+19A>G	noncoding	Benign/Likely_benign
14	31826812	A	G	A31826812G	NUBPL	NM_025152.3(NUBPL):c.693+98A>G	noncoding	Benign
14	31826859	A	G	A31826859G	NUBPL	NM_025152.3(NUBPL):c.693+145A>G	noncoding	Benign
14	31826861	A	C	A31826861C	NUBPL	NM_025152.3(NUBPL):c.693+147A>C	noncoding	Benign
14	31858906	C	T	C31858906T	NUBPL	NM_025152.3(NUBPL):c.898-212C>T	noncoding	Benign
14	31859026	C	T	C31859026T	NUBPL	NM_025152.3(NUBPL):c.898-92C>T	noncoding	Benign
14	34516452	C	T	C34516452T	EAPP	NM_018453.4(EAPP):c.716G>A:p.Arg239Gln	coding	Benign
14	34714304	C	T	C34714304T	CFL2	NM_138638.5(CFL2):c.3+234G>A	noncoding	Benign
14	34714342	C	A	C34714342A	CFL2	NM_138638.5(CFL2):c.3+196G>T	noncoding	Benign
14	34714439	G	A	G34714439A	CFL2	NM_138638.5(CFL2):c.3+99C>T	coding	Benign
14	34996578	T	A	T34996578A	SRP54	NM_003136.4(SRP54):c.-33-99T>A	noncoding	Benign
14	34996757	G	A	G34996757A	SRP54	NM_003136.4(SRP54):c.48G>A:p.Ser16=	coding	Benign
14	34999426	C	T	C34999426T	SRP54	NM_003136.4(SRP54):c.79-132C>T	noncoding	Benign
14	34999590	C	T	C34999590T	SRP54	NM_003136.4(SRP54):c.111C>T:p.Thr37=	coding	Benign
14	34999687	T	A	T34999687A	SRP54	NM_003136.4(SRP54):c.170+38T>A	noncoding	Benign
14	35000785	G	A	G35000785A	SRP54	NM_003136.4(SRP54):c.171-151G>A	noncoding	Benign
14	35000813	T	C	T35000813C	SRP54	NM_003136.4(SRP54):c.171-123T>C	noncoding	Benign
14	35000843	G	A	G35000843A	SRP54	NM_003136.4(SRP54):c.171-93G>A	noncoding	Benign
14	35007467	G	A	G35007467A	SRP54	NM_003136.4(SRP54):c.360+80G>A	noncoding	Benign
14	35008579	G	A	G35008579A	SRP54	NM_003136.4(SRP54):c.361-48G>A	noncoding	Benign
14	35008759	C	T	C35008759T	SRP54	NM_003136.4(SRP54):c.428-15C>T	noncoding	Benign
14	35011363	T	G	T35011363G	SRP54	NM_003136.4(SRP54):c.486-146T>G	noncoding	Benign
14	35011659	A	C	A35011659C	SRP54	NM_003136.4(SRP54):c.636A>C:p.Ile212=	coding	Benign/Likely_benign
14	35013591	A	G	A35013591G	SRP54	NM_003136.4(SRP54):c.785+97A>G	noncoding	Benign
14	35014676	A	C	A35014676C	SRP54	NM_003136.4(SRP54):c.887-68A>C	noncoding	Benign
14	35018723	A	G	A35018723G	SRP54	NM_003136.4(SRP54):c.1005A>G:p.Gln335=	coding	Benign
14	35019103	A	G	A35019103G	SRP54	NM_003136.4(SRP54):c.1156+29A>G	noncoding	Benign
14	35022944	T	C	T35022944C	SRP54	NM_003136.4(SRP54):c.1191T>C:p.Ser397=	coding	Benign
14	35023049	A	G	A35023049G	SRP54	NM_003136.4(SRP54):c.1296A>G:p.Lys432=	coding	Benign
14	35028060	C	T	C35028060T	SRP54	NM_003136.4(SRP54):c.1328-28C>T	noncoding	Benign
14	35028068	C	G	C35028068G	SRP54	NM_003136.4(SRP54):c.1328-20C>G	noncoding	Benign
14	35028079	T	C	T35028079C	SRP54	NM_003136.4(SRP54):c.1328-9T>C	noncoding	Benign
14	35028876	T	A	T35028876A	SRP54	NM_003136.4(SRP54):c.1424-185T>A	noncoding	Benign
14	35029237	G	A	G35029237A	SRP54	NM_003136.4(SRP54):c.*85G>A	noncoding	Benign
14	35029279	C	T	C35029279T	SRP54	NM_003136.4(SRP54):c.*127C>T	noncoding	Benign
14	35085702	C	T	C35085702T	PPP2R3C	NM_017917.4(PPP2R3C):c.1250G>A:p.Gly417Glu	coding	Pathogenic
14	35121968	T	C	T35121968C	PPP2R3C	NM_017917.4(PPP2R3C):c.-9A>G	noncoding	Benign
14	35180737	A	G	A35180737G	PRORP	NM_014672.4(PRORP):c.1235A>G:p.Asn412Ser	coding	Pathogenic/Likely_pathogenic
14	35266752	C	A	C35266752A	PRORP	NM_014672.4(PRORP):c.1301C>A:p.Ala434Asp	coding	Pathogenic/Likely_pathogenic
14	35266785	G	A	G35266785A	PRORP	NM_014672.4(PRORP):c.1334G>A:p.Arg445Gln	coding	Pathogenic/Likely_pathogenic
14	35270430	C	T	C35270430T	PRORP	NM_014672.4(PRORP):c.1454C>T:p.Ala485Val	coding	Pathogenic/Likely_pathogenic
14	35402201	A	G	A35402201G	NFKBIA	NM_020529.3(NFKBIA):c.907-141T>C	noncoding	Benign
14	35402374	G	A	G35402374A	NFKBIA	NM_020529.3(NFKBIA):c.906+20C>T	noncoding	Benign
14	35402434	T	C	T35402434C	NFKBIA	NM_020529.3(NFKBIA):c.866A>G:p.Tyr289Cys	coding	Benign
14	35402754	G	A	G35402754A	NFKBIA	NM_020529.3(NFKBIA):c.636+17C>T	noncoding	Benign
14	35402888	C	T	C35402888T	NFKBIA	NM_020529.3(NFKBIA):c.548-29G>A	noncoding	Benign
14	35403101	C	T	C35403101T	NFKBIA	NM_020529.3(NFKBIA):c.547+49G>A	noncoding	Benign
14	35403559	G	A	G35403559A	NFKBIA	NM_020529.3(NFKBIA):c.336+131C>T	noncoding	Benign
14	35403586	A	G	A35403586G	NFKBIA	NM_020529.3(NFKBIA):c.336+104T>C	noncoding	Benign
14	35403670	G	T	G35403670T	NFKBIA	NM_020529.3(NFKBIA):c.336+20C>A	noncoding	Benign
14	35404361	A	T	A35404361T	NFKBIA	NM_020529.3(NFKBIA):c.227+57T>A	noncoding	Benign
14	35404402	G	A	G35404402A	NFKBIA	NM_020529.3(NFKBIA):c.227+16C>T	noncoding	Benign
14	35404483	G	A	G35404483A	NFKBIA	NM_020529.3(NFKBIA):c.162C>T:p.Leu54=	coding	Benign
14	35405064	G	A	G35405064A	NFKBIA	NC_000014.8:g.35874270G>A	noncoding	Benign
14	35405317	T	A	T35405317A	NFKBIA	NC_000014.8:g.35874523T>A	noncoding	Benign
14	35405593	G	A	G35405593A	NFKBIA	NC_000014.8:g.35874799G>A	noncoding	Benign
14	35405648	T	C	T35405648C	NFKBIA	NC_000014.8:g.35874854T>C	noncoding	Benign
14	35683971	T	C	T35683971C	RALGAPA1	NM_001346249.2(RALGAPA1):c.4309A>G:p.Thr1437Ala	coding	Benign
14	35775609	C	A	C35775609A	RALGAPA1	NM_001346249.2(RALGAPA1):c.217+26G>T	noncoding	Benign
14	36517418	G	A	G36517418A	NKX2-1	NM_001079668.3(NKX2-1):c.1066C>T:p.Gln356Ter	coding	Pathogenic
14	36517612	G	A	G36517612A	NKX2-1	NM_001079668.3(NKX2-1):c.872C>T:p.Pro291Leu	coding	Pathogenic/Likely_pathogenic
14	36517770	C	T	C36517770T	NKX2-1	NM_001079668.3(NKX2-1):c.714G>A:p.Trp238Ter	coding	Pathogenic/Likely_pathogenic
14	36517789	G	A	G36517789A	NKX2-1	NM_001079668.3(NKX2-1):c.695C>T:p.Pro232Leu	coding	Pathogenic/Likely_pathogenic
14	36517865	C	A	C36517865A	NKX2-1	NM_001079668.3(NKX2-1):c.619G>T:p.Glu207Ter	coding	Pathogenic
14	36517872	G	T	G36517872T	NKX2-1	NM_001079668.3(NKX2-1):c.612C>A:p.Tyr204Ter	coding	Pathogenic
14	36518984	C	T	C36518984T	NKX2-1	NM_001079668.3(NKX2-1):c.463+1G>A	noncoding	Pathogenic
14	36519057	G	A	G36519057A	NKX2-1	NM_001079668.3(NKX2-1):c.391C>T:p.Gln131Ter	coding	Pathogenic
14	36519122	G	T	G36519122T	NKX2-1	NM_001079668.3(NKX2-1):c.326C>A:p.Ser109Ter	coding	Pathogenic
14	36520391	A	G	A36520391G	NKX2-1	Single_allele	noncoding	Benign
14	36520491	G	T	G36520491T	NKX2-1	Single_allele	noncoding	Benign
14	36659359	C	A	C36659359A	PAX9	NM_006194.4(PAX9):c.-394+1459C>A	noncoding	Benign
14	36660669	A	G	A36660669G	PAX9	NM_006194.4(PAX9):c.-393-1028A>G	noncoding	Benign
14	36660725	C	G	C36660725G	PAX9	NM_006194.4(PAX9):c.-393-972C>G	noncoding	Benign
14	36660788	C	T	C36660788T	PAX9	NM_006194.4(PAX9):c.-393-909C>T	noncoding	Benign
14	36660959	T	C	T36660959C	PAX9	NM_006194.4(PAX9):c.-393-738T>C	noncoding	Benign
14	36661540	C	T	C36661540T	PAX9	NM_006194.4(PAX9):c.-393-157C>T	noncoding	Benign
14	36662090	A	G	A36662090G	PAX9	NM_001372076.1(PAX9):c.1A>G:p.Met1Val	coding	Pathogenic
14	36662788	G	C	G36662788C	PAX9	NM_001372076.1(PAX9):c.5-109G>C	noncoding	Benign
14	36662815	G	A	G36662815A	PAX9	NM_001372076.1(PAX9):c.5-82G>A	noncoding	Benign
14	36662843	A	G	A36662843G	PAX9	NM_001372076.1(PAX9):c.5-54A>G	noncoding	Benign
14	36662856	A	G	A36662856G	PAX9	NM_001372076.1(PAX9):c.5-41A>G	noncoding	Benign
14	36662922	G	A	G36662922A	PAX9	NM_001372076.1(PAX9):c.30G>A:p.Gln10=	coding	Benign
14	36663032	G	C	G36663032C	PAX9	NM_001372076.1(PAX9):c.140G>C:p.Arg47Pro	coding	Pathogenic
14	36663038	C	T	C36663038T	PAX9	NM_001372076.1(PAX9):c.146C>T:p.Ser49Leu	coding	Pathogenic
14	36663044	G	T	G36663044T	PAX9	NM_001372076.1(PAX9):c.152G>T:p.Gly51Val	coding	Pathogenic
14	36663083	G	T	G36663083T	PAX9	NM_001372076.1(PAX9):c.191G>T:p.Gly64Val	coding	Pathogenic
14	36663301	C	T	C36663301T	PAX9	NM_001372076.1(PAX9):c.409C>T:p.Gln137Ter	coding	Pathogenic
14	36663312	C	A	C36663312A	PAX9	NM_001372076.1(PAX9):c.420C>A:p.Tyr140Ter	coding	Pathogenic
14	36663325	C	T	C36663325T	PAX9	NM_001372076.1(PAX9):c.433C>T:p.Gln145Ter	coding	Pathogenic
14	36663343	C	T	C36663343T	PAX9	NM_001372076.1(PAX9):c.451C>T:p.Gln151Ter	coding	Pathogenic
14	36663374	C	A	C36663374A	PAX9	NM_001372076.1(PAX9):c.482C>A:p.Ser161Ter	coding	Pathogenic
14	36663564	G	A	G36663564A	PAX9	NM_001372076.1(PAX9):c.631+41G>A	noncoding	Benign
14	36663698	A	T	A36663698T	PAX9	NM_001372076.1(PAX9):c.631+175A>T	noncoding	Benign
14	36666400	G	C	G36666400C	PAX9	NM_001372076.1(PAX9):c.632-62G>C	noncoding	Benign
14	36666905	A	G	A36666905G	PAX9	NM_001372076.1(PAX9):c.771+304A>G	noncoding	Benign
14	36680661	C	A	C36680661A	SLC25A21	NM_030631.4(SLC25A21):c.897G>T:p.Trp299Cys	coding	Benign
14	36684940	G	T	G36684940T	SLC25A21	NM_030631.4(SLC25A21):c.604-15C>A	noncoding	Benign
14	36684943	T	G	T36684943G	SLC25A21	NM_030631.4(SLC25A21):c.604-18A>C	noncoding	Benign
14	36711389	G	A	G36711389A	SLC25A21	NM_030631.4(SLC25A21):c.532C>T:p.Arg178Ter	coding	Pathogenic
14	36711410	C	T	C36711410T	SLC25A21	NM_030631.4(SLC25A21):c.511G>A:p.Gly171Arg	coding	Benign
14	36711480	T	C	T36711480C	SLC25A21	NM_030631.4(SLC25A21):c.441A>G:p.Gln147=	coding	Benign
14	36725580	G	A	G36725580A	SLC25A21	NM_030631.4(SLC25A21):c.428C>T:p.Thr143Ile	coding	Benign
14	36729501	A	T	A36729501T	SLC25A21	NM_030631.4(SLC25A21):c.330+6T>A	noncoding	Benign
14	36734488	G	A	G36734488A	SLC25A21	NM_030631.4(SLC25A21):c.270+19C>T	noncoding	Benign
14	36734491	C	G	C36734491G	SLC25A21	NM_030631.4(SLC25A21):c.270+16G>C	noncoding	Benign
14	36734492	G	A	G36734492A	SLC25A21	NM_030631.4(SLC25A21):c.270+15C>T	noncoding	Benign
14	36759299	C	T	C36759299T	SLC25A21	NM_030631.4(SLC25A21):c.204-24726G>A	noncoding	Benign
14	36813976	C	T	C36813976T	SLC25A21	NM_030631.4(SLC25A21):c.145G>A:p.Asp49Asn	coding	Benign
14	36874978	G	A	G36874978A	SLC25A21	NM_030631.4(SLC25A21):c.97C>T:p.Pro33Ser	coding	Benign
14	37019803	A	G	A37019803G	SLC25A21	NM_030631.4(SLC25A21):c.71-144799T>C	noncoding	Benign
14	39038863	G	T	G39038863T	SEC23A	NM_006364.4(SEC23A):c.2208+168C>A	noncoding	Benign
14	39039403	C	T	C39039403T	SEC23A	NM_006364.4(SEC23A):c.2143-307G>A	noncoding	Benign
14	39040969	T	C	T39040969C	SEC23A	NM_006364.4(SEC23A):c.1987-82A>G	noncoding	Benign
14	39042918	T	A	T39042918A	SEC23A	NM_006364.4(SEC23A):c.1900-46A>T	noncoding	Benign
14	39045027	T	A	T39045027A	SEC23A	NM_006364.4(SEC23A):c.1899+136A>T	noncoding	Benign
14	39045070	T	G	T39045070G	SEC23A	NM_006364.4(SEC23A):c.1899+93A>C	noncoding	Benign
14	39045267	C	T	C39045267T	SEC23A	NM_006364.4(SEC23A):c.1795G>A:p.Glu599Lys	coding	Pathogenic
14	39045559	T	C	T39045559C	SEC23A	NM_006364.4(SEC23A):c.1738-235A>G	noncoding	Benign
14	39048721	T	C	T39048721C	SEC23A	NM_006364.4(SEC23A):c.1668A>G:p.Lys556=	coding	Benign
14	39048892	C	T	C39048892T	SEC23A	NM_006364.4(SEC23A):c.1660-163G>A	noncoding	Benign
14	39048931	T	C	T39048931C	SEC23A	NM_006364.4(SEC23A):c.1660-202A>G	noncoding	Benign
14	39054931	C	T	C39054931T	SEC23A	NM_006364.4(SEC23A):c.1659+212G>A	noncoding	Benign
14	39062077	T	C	T39062077C	SEC23A	NM_006364.4(SEC23A):c.1399-206A>G	noncoding	Benign
14	39062117	T	C	T39062117C	SEC23A	NM_006364.4(SEC23A):c.1399-246A>G	noncoding	Benign
14	39063234	G	A	G39063234A	SEC23A	NM_006364.4(SEC23A):c.1398+90C>T	noncoding	Benign
14	39063288	T	C	T39063288C	SEC23A	NM_006364.4(SEC23A):c.1398+36A>G	noncoding	Benign
14	39074304	T	C	T39074304C	SEC23A	NM_006364.4(SEC23A):c.1103+111A>G	noncoding	Benign
14	39074777	C	G	C39074777G	SEC23A	NM_006364.4(SEC23A):c.988-247G>C	noncoding	Benign
14	39076317	A	G	A39076317G	SEC23A	NM_006364.4(SEC23A):c.829-224T>C	noncoding	Benign
14	39085577	C	T	C39085577T	SEC23A	NM_006364.4(SEC23A):c.828+185G>A	noncoding	Benign
14	39085687	T	C	T39085687C	SEC23A	NM_006364.4(SEC23A):c.828+75A>G	noncoding	Benign
14	39085689	T	C	T39085689C	SEC23A	NM_006364.4(SEC23A):c.828+73A>G	noncoding	Benign
14	39086757	C	A	C39086757A	SEC23A	NM_006364.4(SEC23A):c.683+172G>T	noncoding	Benign
14	39086830	T	G	T39086830G	SEC23A	NM_006364.4(SEC23A):c.683+99A>C	noncoding	Benign
14	39093316	T	C	T39093316C	SEC23A	NM_006364.4(SEC23A):c.222-72A>G	noncoding	Benign
14	39093415	C	T	C39093415T	SEC23A	NM_006364.4(SEC23A):c.222-171G>A	noncoding	Benign
14	39095669	A	G	A39095669G	SEC23A	NM_006364.4(SEC23A):c.221+229T>C	noncoding	Benign
14	39096199	T	A	T39096199A	SEC23A	NM_006364.4(SEC23A):c.-21-60A>T	noncoding	Benign
14	39096249	A	G	A39096249G	SEC23A	NM_006364.4(SEC23A):c.-21-110T>C	noncoding	Benign
14	39150353	C	G	C39150353G	TRAPPC6B	NM_001079537.2(TRAPPC6B):c.474G>C:p.Leu158=	coding	Benign
14	39151732	C	T	C39151732T	TRAPPC6B	NM_001079537.2(TRAPPC6B):c.445+14G>A	noncoding	Benign
14	39154235	T	C	T39154235C	TRAPPC6B	NM_001079537.2(TRAPPC6B):c.327A>G:p.Lys109=	coding	Benign
14	39154329	T	C	T39154329C	TRAPPC6B	NM_001079537.2(TRAPPC6B):c.268-35A>G	noncoding	Benign
14	45028290	C	T	C45028290T	TOGARAM1	NM_001308120.2(TOGARAM1):c.3619C>T:p.Arg1207Ter	coding	Pathogenic
14	45136497	C	T	C45136497T	FANCM	NM_020937.4(FANCM):c.466C>T:p.Gln156Ter	coding	Pathogenic
14	45136615	C	T	C45136615T	FANCM	NM_020937.4(FANCM):c.508+76C>T	noncoding	Benign
14	45140466	A	G	A45140466G	FANCM	NM_020937.4(FANCM):c.682-166A>G	noncoding	Benign
14	45148953	G	T	G45148953T	FANCM	NM_020937.4(FANCM):c.876G>T:p.Pro292=	coding	Benign/Likely_benign
14	45151104	A	G	A45151104G	FANCM	NM_020937.4(FANCM):c.919-293A>G	noncoding	Benign
14	45151116	G	A	G45151116A	FANCM	NM_020937.4(FANCM):c.919-281G>A	noncoding	Benign
14	45153616	A	G	A45153616G	FANCM	NM_020937.4(FANCM):c.1051-304A>G	noncoding	Benign
14	45153929	C	T	C45153929T	FANCM	NM_020937.4(FANCM):c.1060C>T:p.Gln354Ter	coding	Pathogenic
14	45154726	C	T	C45154726T	FANCM	NM_020937.4(FANCM):c.1213C>T:p.Arg405Ter	coding	Pathogenic/Likely_pathogenic
14	45155178	A	C	A45155178C	FANCM	NM_020937.4(FANCM):c.1310-195A>C	noncoding	Benign
14	45155485	G	A	G45155485A	FANCM	NM_020937.4(FANCM):c.1396+26G>A	noncoding	Benign
14	45159038	T	G	T45159038G	FANCM	NM_020937.4(FANCM):c.1397-58T>G	noncoding	Benign
14	45159084	A	G	A45159084G	FANCM	NM_020937.4(FANCM):c.1397-12A>G	noncoding	Benign/Likely_benign
14	45159191	C	T	C45159191T	FANCM	NM_020937.4(FANCM):c.1492C>T:p.Gln498Ter	coding	Pathogenic
14	45159572	C	T	C45159572T	FANCM	NM_020937.4(FANCM):c.1581+292C>T	noncoding	Benign
14	45164319	A	G	A45164319G	FANCM	NM_020937.4(FANCM):c.1582-40A>G	noncoding	Benign
14	45164494	C	T	C45164494T	FANCM	NM_020937.4(FANCM):c.1717C>T:p.Arg573Ter	coding	Pathogenic
14	45167130	C	T	C45167130T	FANCM	NM_020937.4(FANCM):c.1969C>T:p.Gln657Ter	coding	Pathogenic
14	45167304	G	A	G45167304A	FANCM	NM_020937.4(FANCM):c.2002+141G>A	noncoding	Benign
14	45170333	C	G	C45170333G	FANCM	NM_020937.4(FANCM):c.2003-256C>G	noncoding	Benign
14	45170681	G	T	G45170681T	FANCM	NM_020937.4(FANCM):c.2095G>T:p.Glu699Ter	coding	Pathogenic
14	45173149	C	G	C45173149G	FANCM	NM_020937.4(FANCM):c.2255C>G:p.Ser752Ter	coding	Pathogenic
14	45173162	C	A	C45173162A	FANCM	NM_020937.4(FANCM):c.2268C>A:p.Arg756=	coding	Benign/Likely_benign
14	45175336	T	G	T45175336G	FANCM	NM_020937.4(FANCM):c.2582T>G:p.Ile861Arg	coding	Benign
14	45176277	C	T	C45176277T	FANCM	NM_020937.4(FANCM):c.3523C>T:p.Gln1175Ter	coding	Pathogenic
14	45176382	C	T	C45176382T	FANCM	NM_020937.4(FANCM):c.3628C>T:p.Gln1210Ter	coding	Pathogenic
14	45176652	G	T	G45176652T	FANCM	NM_020937.4(FANCM):c.3898G>T:p.Glu1300Ter	coding	Pathogenic/Likely_pathogenic
14	45176907	G	T	G45176907T	FANCM	NM_020937.4(FANCM):c.4153G>T:p.Glu1385Ter	coding	Pathogenic
14	45176948	T	G	T45176948G	FANCM	NM_020937.4(FANCM):c.4194T>G:p.Tyr1398Ter	coding	Pathogenic
14	45181196	A	T	A45181196T	FANCM	NM_020937.4(FANCM):c.4223-234A>T	noncoding	Benign
14	45181330	C	T	C45181330T	FANCM	NM_020937.4(FANCM):c.4223-100C>T	noncoding	Benign
14	45181477	C	T	C45181477T	FANCM	NM_020937.4(FANCM):c.4270C>T:p.Arg1424Ter	coding	Pathogenic/Likely_pathogenic
14	45181610	G	A	G45181610A	FANCM	NM_020937.4(FANCM):c.4318-27G>A	noncoding	Benign
14	45183735	A	T	A45183735T	FANCM	NM_020937.4(FANCM):c.4387-39A>T	noncoding	Benign
14	45184894	T	C	T45184894C	FANCM	NM_020937.4(FANCM):c.4516-323T>C	noncoding	Benign
14	45185054	T	C	T45185054C	FANCM	NM_020937.4(FANCM):c.4516-163T>C	noncoding	Benign
14	45189588	A	G	A45189588G	FANCM	NM_020937.4(FANCM):c.5340+226A>G	noncoding	Benign
14	45196109	G	A	G45196109A	FANCM	NM_020937.4(FANCM):c.5341-63G>A	noncoding	Benign
14	45196277	A	T	A45196277T	FANCM	NM_020937.4(FANCM):c.5446A>T:p.Lys1816Ter	coding	Pathogenic/Likely_pathogenic
14	45196307	G	T	G45196307T	FANCM	NM_020937.4(FANCM):c.5476G>T:p.Glu1826Ter	coding	Pathogenic
14	45200240	G	A	G45200240A	FANCM	NM_020937.4(FANCM):c.*232G>A	noncoding	Benign
14	49583732	C	T	C49583732T	RPS29	NM_001032.5(RPS29):c.163-57G>A	noncoding	Benign
14	49586329	C	T	C49586329T	RPS29	NM_001032.5(RPS29):c.18G>A:p.Leu6=	coding	Benign/Likely_benign
14	49620530	T	C	T49620530C	MGAT2	NM_001001.5(RPL36AL):c.-37+32A>G	noncoding	Benign
14	49620639	C	G	C49620639G	MGAT2	Single_allele	noncoding	Benign
14	49626184	T	C	T49626184C	DNAAF2	NM_018139.3(DNAAF2):c.2008-136A>G	noncoding	Benign
14	49627921	G	A	G49627921A	DNAAF2	NM_018139.3(DNAAF2):c.2007+91C>T	noncoding	Benign
14	49633838	G	A	G49633838A	DNAAF2	NM_018139.3(DNAAF2):c.1312C>T:p.Gln438Ter	coding	Pathogenic
14	49633850	T	A	T49633850A	DNAAF2	NM_018139.3(DNAAF2):c.1300A>T:p.Lys434Ter	coding	Pathogenic
14	49633991	C	A	C49633991A	DNAAF2	NM_018139.3(DNAAF2):c.1159G>T:p.Glu387Ter	coding	Pathogenic
14	49634994	G	T	G49634994T	DNAAF2	NM_018139.3(DNAAF2):c.156C>A:p.Tyr52Ter	coding	Pathogenic
14	49635124	G	T	G49635124T	DNAAF2	NM_018139.3(DNAAF2):c.26C>A:p.Ser9Ter	coding	Pathogenic
14	49647325	A	C	A49647325C	POLE2	NM_002692.4(POLE2):c.1533T>G:p.Val511=	coding	Benign
14	49647366	G	A	G49647366A	POLE2	NM_002692.4(POLE2):c.1498-6C>T	noncoding	Benign
14	49650248	A	G	A49650248G	POLE2	NM_002692.4(POLE2):c.1497+17T>C	coding	Benign
14	49650396	G	C	G49650396C	POLE2	NM_002692.4(POLE2):c.1366C>G:p.Leu456Val	coding	Benign
14	49654140	C	T	C49654140T	POLE2	NM_002692.4(POLE2):c.1133+15G>A	noncoding	Benign
14	49654789	G	C	G49654789C	POLE2	NM_002692.4(POLE2):c.1068C>G:p.His356Gln	coding	Benign
14	49654804	T	C	T49654804C	POLE2	NM_002692.4(POLE2):c.1053A>G:p.Glu351=	coding	Benign
14	49664614	A	G	A49664614G	POLE2	NM_002692.4(POLE2):c.682+12T>C	noncoding	Benign
14	49665128	G	T	G49665128T	POLE2	NM_002692.4(POLE2):c.612C>A:p.Val204=	coding	Benign
14	49666315	T	C	T49666315C	POLE2	NM_002692.4(POLE2):c.576+15A>G	noncoding	Benign
14	49666320	A	G	A49666320G	POLE2	NM_002692.4(POLE2):c.576+10T>C	noncoding	Benign
14	49666339	C	T	C49666339T	POLE2	NM_002692.4(POLE2):c.567G>A:p.Gln189=	coding	Benign
14	49669539	G	A	G49669539A	POLE2	NM_002692.4(POLE2):c.477C>T:p.Ser159=	coding	Benign
14	49674422	T	G	T49674422G	POLE2	NM_002692.4(POLE2):c.251A>C:p.His84Pro	coding	Benign
14	49688169	G	A	G49688169A	POLE2	NM_002692.4(POLE2):c.35C>T:p.Ser12Phe	coding	Benign
14	49688188	G	A	G49688188A	POLE2	NM_002692.4(POLE2):c.16C>T:p.Leu6=	coding	Benign
14	50118391	G	A	G50118391A	SOS2	NM_006939.4(SOS2):c.3952C>T:p.Pro1318Ser	coding	Benign/Likely_benign
14	50118409	G	T	G50118409T	SOS2	NM_006939.4(SOS2):c.3934C>A:p.Arg1312=	coding	Benign
14	50118513	A	G	A50118513G	SOS2	NM_006939.4(SOS2):c.3830T>C:p.Leu1277Pro	coding	Benign/Likely_benign
14	50118729	G	A	G50118729A	SOS2	NM_006939.4(SOS2):c.3614C>T:p.Pro1205Leu	coding	Benign/Likely_benign
14	50118741	T	C	T50118741C	SOS2	NM_006939.4(SOS2):c.3602A>G:p.His1201Arg	coding	Benign
14	50120436	T	C	T50120436C	SOS2	NM_006939.4(SOS2):c.3380-52A>G	noncoding	Benign
14	50120722	T	C	T50120722C	SOS2	NM_006939.4(SOS2):c.3380-338A>G	noncoding	Benign
14	50130779	T	A	T50130779A	SOS2	NM_006939.4(SOS2):c.3076-17A>T	noncoding	Benign/Likely_benign
14	50133843	T	C	T50133843C	SOS2	NM_006939.4(SOS2):c.3075+280A>G	noncoding	Benign
14	50134255	T	C	T50134255C	SOS2	NM_006939.4(SOS2):c.2959-16A>G	noncoding	Benign/Likely_benign
14	50134537	T	G	T50134537G	SOS2	NM_006939.4(SOS2):c.2959-298A>C	noncoding	Benign
14	50138716	C	T	C50138716T	SOS2	NM_006939.4(SOS2):c.2854G>A:p.Asp952Asn	coding	Benign/Likely_benign
14	50138853	G	A	G50138853A	SOS2	NM_006939.4(SOS2):c.2786-69C>T	noncoding	Benign
14	50139908	C	A	C50139908A	SOS2	NM_006939.4(SOS2):c.2785+34G>T	noncoding	Benign
14	50140027	G	A	G50140027A	SOS2	NM_006939.4(SOS2):c.2700C>T:p.Asp900=	coding	Benign/Likely_benign
14	50145197	T	C	T50145197C	SOS2	NM_006939.4(SOS2):c.2640A>G:p.Ser880=	coding	Benign/Likely_benign
14	50145233	G	A	G50145233A	SOS2	NM_006939.4(SOS2):c.2604C>T:p.Gly868=	coding	Benign/Likely_benign
14	50145429	C	G	C50145429G	SOS2	NM_006939.4(SOS2):c.2504+48G>C	noncoding	Benign
14	50150172	T	G	T50150172G	SOS2	NM_006939.4(SOS2):c.2220A>C:p.Gln740His	coding	Benign/Likely_benign
14	50150175	C	T	C50150175T	SOS2	NM_006939.4(SOS2):c.2217G>A:p.Lys739=	coding	Benign/Likely_benign
14	50156939	G	A	G50156939A	SOS2	NM_006939.4(SOS2):c.2057+60C>T	noncoding	Benign
14	50156951	G	A	G50156951A	SOS2	NM_006939.4(SOS2):c.2057+48C>T	noncoding	Benign
14	50156961	G	A	G50156961A	SOS2	NM_006939.4(SOS2):c.2057+38C>T	noncoding	Benign
14	50156965	A	G	A50156965G	SOS2	NM_006939.4(SOS2):c.2057+34T>C	noncoding	Benign
14	50156967	A	G	A50156967G	SOS2	NM_006939.4(SOS2):c.2057+32T>C	noncoding	Benign
14	50157141	G	C	G50157141C	SOS2	NM_006939.4(SOS2):c.1935-20C>G	noncoding	Benign
14	50158677	T	C	T50158677C	SOS2	NM_006939.4(SOS2):c.1853-31A>G	noncoding	Benign
14	50158686	T	A	T50158686A	SOS2	NM_006939.4(SOS2):c.1853-40A>T	noncoding	Benign
14	50158924	C	T	C50158924T	SOS2	NM_006939.4(SOS2):c.1853-278G>A	noncoding	Benign
14	50159762	C	A	C50159762A	SOS2	NM_006939.4(SOS2):c.1521G>T:p.Glu507Asp	coding	Benign/Likely_benign
14	50160072	G	A	G50160072A	SOS2	NM_006939.4(SOS2):c.1211C>T:p.Pro404Leu	coding	Benign/Likely_benign
14	50161607	T	C	T50161607C	SOS2	NM_006939.4(SOS2):c.1071A>G:p.Gln357=	coding	Benign/Likely_benign
14	50174582	A	G	A50174582G	SOS2	NM_006939.4(SOS2):c.970-30T>C	noncoding	Benign
14	50180533	T	A	T50180533A	SOS2	NM_006939.4(SOS2):c.969+39A>T	noncoding	Benign
14	50180534	A	T	A50180534T	SOS2	NM_006939.4(SOS2):c.969+38T>A	noncoding	Benign
14	50180545	A	C	A50180545C	SOS2	NM_006939.4(SOS2):c.969+27T>G	noncoding	Benign
14	50182211	G	T	G50182211T	SOS2	NM_006939.4(SOS2):c.858+252C>A	noncoding	Benign
14	50182646	G	C	G50182646C	SOS2	NM_006939.4(SOS2):c.715-40C>G	noncoding	Benign
14	50188509	C	T	C50188509T	SOS2	NM_006939.4(SOS2):c.702G>A:p.Leu234=	coding	Benign/Likely_benign
14	50199802	T	G	T50199802G	SOS2	NM_006939.4(SOS2):c.399A>C:p.Val133=	coding	Benign/Likely_benign
14	50199898	T	C	T50199898C	SOS2	NM_006939.4(SOS2):c.346-43A>G	noncoding	Benign
14	50200909	T	C	T50200909C	SOS2	NM_006939.4(SOS2):c.345+44A>G	noncoding	Benign
14	50204302	C	T	C50204302T	SOS2	NM_006939.4(SOS2):c.195G>A:p.Arg65=	coding	Benign/Likely_benign
14	50215419	C	G	C50215419G	SOS2	NM_006939.4(SOS2):c.88-11010G>C	noncoding	Benign
14	50231091	G	C	G50231091C	SOS2	NM_006939.4(SOS2):c.87+106C>G	noncoding	Benign
14	50246961	T	G	T50246961G	L2HGDH	NM_024884.3(L2HGDH):c.*97A>C	noncoding	Benign
14	50247411	A	G	A50247411G	L2HGDH	NM_024884.3(L2HGDH):c.1197-158T>C	noncoding	Benign
14	50265324	G	A	G50265324A	L2HGDH	NM_024884.3(L2HGDH):c.1196+34C>T	noncoding	Benign
14	50269166	A	C	A50269166C	L2HGDH	NM_024884.3(L2HGDH):c.903T>G:p.Tyr301Ter	coding	Pathogenic
14	50278505	C	T	C50278505T	L2HGDH	NM_024884.3(L2HGDH):c.738+15G>A	noncoding	Benign
14	50283859	A	G	A50283859G	L2HGDH	NM_024884.3(L2HGDH):c.703+12T>C	noncoding	Benign/Likely_benign
14	50284061	G	A	G50284061A	L2HGDH	NM_024884.3(L2HGDH):c.541-28C>T	noncoding	Benign
14	50301981	T	C	T50301981C	L2HGDH	NM_024884.3(L2HGDH):c.408+36A>G	noncoding	Benign
14	50302016	C	G	C50302016G	L2HGDH	NM_024884.3(L2HGDH):c.408+1G>C	noncoding	Pathogenic
14	50302667	C	T	C50302667T	L2HGDH	NM_024884.3(L2HGDH):c.256+235G>A	noncoding	Benign
14	50312150	T	C	T50312150C	L2HGDH	NM_024884.3(L2HGDH):c.1A>G:p.Met1Val	coding	Pathogenic
14	50533475	C	T	C50533475T	ATL1	NM_001127713.1(ATL1):c.-140+108C>T	noncoding	Benign
14	50560409	G	C	G50560409C	ATL1	NM_015915.5(ATL1):c.34+110G>C	noncoding	Benign
14	50587757	G	C	G50587757C	ATL1	NM_015915.5(ATL1):c.35-74G>C	noncoding	Benign
14	50587914	G	T	G50587914T	ATL1	NM_015915.5(ATL1):c.118G>T:p.Val40Phe	coding	Pathogenic
14	50590964	C	A	C50590964A	ATL1	NM_015915.5(ATL1):c.306C>A:p.Asp102Glu	coding	Benign/Likely_benign
14	50591360	T	C	T50591360C	ATL1	NM_015915.5(ATL1):c.418-175T>C	noncoding	Benign
14	50591516	G	T	G50591516T	ATL1	NM_015915.5(ATL1):c.418-19G>T	noncoding	Benign
14	50593888	C	G	C50593888G	ATL1	NM_015915.5(ATL1):c.565C>G:p.His189Asp	coding	Pathogenic
14	50593895	A	G	A50593895G	ATL1	NM_015915.5(ATL1):c.572A>G:p.Gln191Arg	coding	Pathogenic
14	50595577	T	A	T50595577A	ATL1	NM_015915.5(ATL1):c.575T>A:p.Leu192His	coding	Pathogenic
14	50614398	T	C	T50614398C	ATL1	NM_015915.5(ATL1):c.749T>C:p.Leu250Pro	coding	Pathogenic
14	50620657	C	T	C50620657T	ATL1	NM_015915.5(ATL1):c.921C>T:p.Pro307=	coding	Benign/Likely_benign
14	50623119	G	A	G50623119A	ATL1	NM_015915.5(ATL1):c.1048-58G>A	noncoding	Benign
14	50623398	A	G	A50623398G	ATL1	NM_015915.5(ATL1):c.1119+150A>G	noncoding	Benign
14	50628131	A	T	A50628131T	ATL1	NM_015915.5(ATL1):c.1220A>T:p.Lys407Met	coding	Pathogenic/Likely_pathogenic
14	50628240	T	C	T50628240C	ATL1	NM_015915.5(ATL1):c.1329T>C:p.His443=	coding	Benign
14	50628369	C	T	C50628369T	ATL1	NM_015915.5(ATL1):c.1458C>T:p.Ile486=	coding	Benign
14	50628399	C	A	C50628399A	ATL1	NM_015915.5(ATL1):c.1488C>A:p.Tyr496Ter	coding	Pathogenic
14	50628412	C	T	C50628412T	ATL1	NM_015915.5(ATL1):c.1501C>T:p.Arg501Ter	coding	Pathogenic
14	50628454	T	C	T50628454C	ATL1	NM_015915.5(ATL1):c.1543T>C:p.Trp515Arg	coding	Pathogenic
14	50628711	T	C	T50628711C	ATL1	NM_015915.5(ATL1):c.1551+249T>C	noncoding	Benign
14	50629819	C	T	C50629819T	ATL1	NM_015915.5(ATL1):c.1552-176C>T	noncoding	Benign
14	50725777	G	A	G50725777A	NIN	NM_020921.4(NIN):c.6192+176C>T	noncoding	Benign
14	50725853	G	C	G50725853C	NIN	NM_020921.4(NIN):c.6192+100C>G	coding	Benign
14	50725941	G	A	G50725941A	NIN	NM_020921.4(NIN):c.6192+12C>T	coding	Benign
14	50729424	T	C	T50729424C	NIN	NM_020921.4(NIN):c.6078+99A>G	noncoding	Benign
14	50729939	T	C	T50729939C	NIN	NM_020921.4(NIN):c.5878-216A>G	noncoding	Benign
14	50729993	C	T	C50729993T	NIN	NM_020921.4(NIN):c.5878-270G>A	noncoding	Benign
14	50738124	A	G	A50738124G	NIN	NM_020921.4(NIN):c.5775+16T>C	noncoding	Benign
14	50738278	C	T	C50738278T	NIN	NM_020921.4(NIN):c.5637G>A:p.Gln1879=	coding	Benign
14	50739303	A	G	A50739303G	NIN	NM_020921.4(NIN):c.5628+5T>C	noncoding	Benign
14	50739427	A	T	A50739427T	NIN	NM_020921.4(NIN):c.5509T>A:p.Ser1837Thr	coding	Benign
14	50739735	C	T	C50739735T	NIN	NM_020921.4(NIN):c.5449-248G>A	noncoding	Benign
14	50741425	T	G	T50741425G	NIN	NM_020921.4(NIN):c.5448+157A>C	noncoding	Benign
14	50741493	C	T	C50741493T	NIN	NM_020921.4(NIN):c.5448+89G>A	noncoding	Benign
14	50743215	T	C	T50743215C	NIN	NM_020921.4(NIN):c.5301+201A>G	noncoding	Benign
14	50743687	G	A	G50743687A	NIN	NM_020921.4(NIN):c.5188-158C>T	noncoding	Benign
14	50744135	T	C	T50744135C	NIN	NM_020921.4(NIN):c.5187+108A>G	noncoding	Benign
14	50748212	T	C	T50748212C	NIN	NM_020921.4(NIN):c.4951-107A>G	noncoding	Benign
14	50752381	C	T	C50752381T	NIN	NM_020921.4(NIN):c.4950+137G>A	noncoding	Benign
14	50752631	G	A	G50752631A	NIN	NM_020921.4(NIN):c.4837C>T:p.Arg1613Cys	coding	Benign
14	50754954	A	C	A50754954C	NIN	NM_020921.4(NIN):c.4539-87T>G	noncoding	Benign
14	50756388	G	T	G50756388T	NIN	NM_020921.4(NIN):c.4538+104C>A	noncoding	Benign
14	50757571	C	T	C50757571T	NIN	NM_020921.4(NIN):c.3459G>A:p.Arg1153=	coding	Benign
14	50757699	G	C	G50757699C	NIN	NM_020921.4(NIN):c.3331C>G:p.Pro1111Ala	coding	Benign
14	50757940	T	A	T50757940A	NIN	NM_020921.4(NIN):c.3090A>T:p.Ser1030=	coding	Benign
14	50758379	T	C	T50758379C	NIN	NM_020921.4(NIN):c.2651A>G:p.Lys884Arg	coding	Benign
14	50758414	G	T	G50758414T	NIN	NM_020921.4(NIN):c.2616C>A:p.Ala872=	coding	Benign
14	50758903	A	G	A50758903G	NIN	NM_020921.4(NIN):c.2400-273T>C	noncoding	Benign
14	50759618	A	G	A50759618G	NIN	NM_020921.4(NIN):c.2399+239T>C	noncoding	Benign
14	50759721	C	G	C50759721G	NIN	NM_020921.4(NIN):c.2399+136G>C	noncoding	Benign
14	50760282	A	G	A50760282G	NIN	NM_020921.4(NIN):c.1974T>C:p.His658=	coding	Benign
14	50760604	T	C	T50760604C	NIN	NM_020921.4(NIN):c.1897-245A>G	noncoding	Benign
14	50761937	C	G	C50761937G	NIN	NM_020921.4(NIN):c.1775-26G>C	noncoding	Benign
14	50761964	G	A	G50761964A	NIN	NM_020921.4(NIN):c.1775-53C>T	noncoding	Benign
14	50762005	G	A	G50762005A	NIN	NM_020921.4(NIN):c.1775-94C>T	noncoding	Benign
14	50763533	G	C	G50763533C	NIN	NM_020921.4(NIN):c.1774+293C>G	noncoding	Benign
14	50763642	T	C	T50763642C	NIN	NM_020921.4(NIN):c.1774+184A>G	noncoding	Benign
14	50763727	T	G	T50763727G	NIN	NM_020921.4(NIN):c.1774+99A>C	noncoding	Benign
14	50766147	A	C	A50766147C	NIN	NM_020921.4(NIN):c.1635+160T>G	noncoding	Benign
14	50770720	C	T	C50770720T	NIN	NM_020921.4(NIN):c.1259+132G>A	noncoding	Benign
14	50770983	A	G	A50770983G	NIN	NM_020921.4(NIN):c.1128T>C:p.Val376=	coding	Benign
14	50771163	T	C	T50771163C	NIN	NM_020921.4(NIN):c.1118+169A>G	noncoding	Benign
14	50772349	C	G	C50772349G	NIN	NM_020921.4(NIN):c.933G>C:p.Leu311=	coding	Benign
14	50772463	G	A	G50772463A	NIN	NM_020921.4(NIN):c.819C>T:p.Phe273=	coding	Benign
14	50772598	C	T	C50772598T	NIN	NM_020921.4(NIN):c.814-130G>A	noncoding	Benign
14	50772599	A	T	A50772599T	NIN	NM_020921.4(NIN):c.814-131T>A	noncoding	Benign
14	50772664	G	A	G50772664A	NIN	NM_020921.4(NIN):c.814-196C>T	noncoding	Benign
14	50776844	T	C	T50776844C	NIN	NM_020921.4(NIN):c.666+105A>G	noncoding	Benign
14	50778948	T	C	T50778948C	NIN	NM_020921.4(NIN):c.436-144A>G	noncoding	Benign
14	50793083	G	A	G50793083A	NIN	NM_020921.4(NIN):c.266-202C>T	noncoding	Benign
14	50807056	A	G	A50807056G	NIN	NM_020921.4(NIN):c.184-238T>C	noncoding	Benign
14	50905615	A	G	A50905615G	PYGL	NM_002863.5(PYGL):c.2380-59T>C	noncoding	Benign
14	50908338	C	A	C50908338A	PYGL	NM_002863.5(PYGL):c.2313-1G>T	coding	Pathogenic
14	50908532	G	T	G50908532T	PYGL	NM_002863.5(PYGL):c.2313-195C>A	noncoding	Benign
14	50909079	T	G	T50909079G	PYGL	NM_002863.5(PYGL):c.2178-124A>C	noncoding	Benign
14	50909108	T	C	T50909108C	PYGL	NM_002863.5(PYGL):c.2178-153A>G	noncoding	Benign
14	50910001	C	G	C50910001G	PYGL	NM_002863.5(PYGL):c.2071G>C:p.Gly691Arg	coding	Pathogenic
14	50910162	T	C	T50910162C	PYGL	NM_002863.5(PYGL):c.1970-60A>G	noncoding	Benign
14	50911967	A	T	A50911967T	PYGL	NM_002863.5(PYGL):c.1827+11T>A	noncoding	Benign
14	50912198	G	A	G50912198A	PYGL	NM_002863.5(PYGL):c.1726C>T:p.Arg576Ter	coding	Pathogenic
14	50914568	T	C	T50914568C	PYGL	NM_002863.5(PYGL):c.1518+133A>G	noncoding	Benign
14	50914816	C	T	C50914816T	PYGL	NM_002863.5(PYGL):c.1404-1G>A	coding	Pathogenic
14	50915232	T	A	T50915232A	PYGL	NM_002863.5(PYGL):c.1403+104A>T	noncoding	Benign
14	50915640	T	C	T50915640C	PYGL	NM_002863.5(PYGL):c.1240-141A>G	noncoding	Benign
14	50915687	T	C	T50915687C	PYGL	NM_002863.5(PYGL):c.1239+138A>G	noncoding	Benign
14	50915965	C	A	C50915965A	PYGL	NM_002863.5(PYGL):c.1099G>T:p.Glu367Ter	coding	Pathogenic
14	50916026	C	T	C50916026T	PYGL	NM_002863.5(PYGL):c.1093-55G>A	noncoding	Benign
14	50920836	G	C	G50920836C	PYGL	NM_002863.5(PYGL):c.772+120C>G	noncoding	Benign
14	50920872	T	G	T50920872G	PYGL	NM_002863.5(PYGL):c.772+84A>C	noncoding	Benign
14	50921030	C	T	C50921030T	PYGL	NM_002863.5(PYGL):c.698G>A:p.Gly233Asp	coding	Pathogenic
14	50921257	G	C	G50921257C	PYGL	NM_002863.5(PYGL):c.661-190C>G	noncoding	Benign
14	50924288	T	C	T50924288C	PYGL	NM_002863.5(PYGL):c.529-188A>G	noncoding	Benign
14	50931671	A	G	A50931671G	PYGL	NM_002863.5(PYGL):c.528+2T>C	noncoding	Pathogenic
14	50931862	C	T	C50931862T	PYGL	NM_002863.5(PYGL):c.425-86G>A	noncoding	Benign
14	50935337	G	A	G50935337A	PYGL	NM_002863.5(PYGL):c.346-152C>T	noncoding	Benign
14	50944332	G	T	G50944332T	PYGL	NM_002863.5(PYGL):c.72C>A:p.Asn24Lys	coding	Pathogenic
14	50944631	A	G	A50944631G	PYGL	Single_allele	noncoding	Benign
14	50944761	T	C	T50944761C	PYGL	Single_allele	noncoding	Benign
14	51720248	G	A	G51720248A	FRMD6	NM_001267046.2(FRMD6):c.1218G>A:p.Thr406=	coding	Benign
14	52042124	C	A	C52042124A	NID2	NM_007361.4(NID2):c.1806G>T:p.Glu602Asp	coding	Benign
14	52781903	C	T	C52781903T	GNPNAT1	NM_198066.4(GNPNAT1):c.226G>A:p.Glu76Lys	coding	Pathogenic
14	53046950	C	A	C53046950A	DDHD1	NM_001160148.2(DDHD1):c.2522-1G>T	coding	Pathogenic
14	53047143	A	G	A53047143G	DDHD1	NM_001160148.2(DDHD1):c.2522-194T>C	noncoding	Benign
14	53051670	A	G	A53051670G	DDHD1	NM_001160148.2(DDHD1):c.2521+174T>C	noncoding	Benign
14	53055557	A	T	A53055557T	DDHD1	NM_001160148.2(DDHD1):c.2245+103T>A	noncoding	Benign
14	53055929	A	C	A53055929C	DDHD1	NM_001160148.2(DDHD1):c.1993-17T>G	noncoding	Benign
14	53055933	T	G	T53055933G	DDHD1	NM_001160148.2(DDHD1):c.1993-21A>C	noncoding	Benign
14	53056239	A	C	A53056239C	DDHD1	NM_001160148.2(DDHD1):c.1993-327T>G	noncoding	Benign
14	53058455	A	G	A53058455G	DDHD1	NM_001160148.2(DDHD1):c.1992+22T>C	noncoding	Benign
14	53058674	C	T	C53058674T	DDHD1	NM_001160148.2(DDHD1):c.1843-48G>A	noncoding	Benign
14	53058687	T	A	T53058687A	DDHD1	NM_001160148.2(DDHD1):c.1843-61A>T	noncoding	Benign
14	53058709	C	T	C53058709T	DDHD1	NM_001160148.2(DDHD1):c.1843-83G>A	noncoding	Benign
14	53061328	G	T	G53061328T	DDHD1	NM_001160148.2(DDHD1):c.1767-127C>A	noncoding	Benign
14	53061506	C	A	C53061506A	DDHD1	NM_001160148.2(DDHD1):c.1767-305G>T	noncoding	Benign
14	53062943	C	T	C53062943T	DDHD1	NM_001160148.2(DDHD1):c.1766G>A:p.Arg589Gln	coding	Pathogenic
14	53063409	C	T	C53063409T	DDHD1	NM_001160148.2(DDHD1):c.1504-204G>A	noncoding	Benign
14	53072753	A	G	A53072753G	DDHD1	NM_001160148.2(DDHD1):c.1397-50T>C	noncoding	Benign
14	53091825	G	A	G53091825A	DDHD1	NM_001160148.2(DDHD1):c.1249C>T:p.Gln417Ter	coding	Pathogenic
14	53103064	G	T	G53103064T	DDHD1	NM_001160148.2(DDHD1):c.1012+619C>A	noncoding	Benign/Likely_benign
14	53103386	A	C	A53103386C	DDHD1	NM_001160148.2(DDHD1):c.1012+297T>G	noncoding	Benign
14	53104001	A	G	A53104001G	DDHD1	NM_001160148.2(DDHD1):c.839-145T>C	noncoding	Benign
14	53104057	A	G	A53104057G	DDHD1	NM_001160148.2(DDHD1):c.839-201T>C	noncoding	Benign
14	53152022	C	G	C53152022G	DDHD1	NM_001160148.2(DDHD1):c.838+239G>C	noncoding	Benign
14	53152589	C	T	C53152589T	DDHD1	NM_001160148.2(DDHD1):c.510G>A:p.Trp170Ter	coding	Pathogenic
14	53153178	G	A	G53153178A	DDHD1	NM_001160148.2(DDHD1):c.-80C>T	noncoding	Benign
14	53153267	C	T	C53153267T	DDHD1	NM_001160148.2(DDHD1):c.-169G>A	noncoding	Benign
14	53153371	C	T	C53153371T	DDHD1	NR_110062.1(DDHD1-DT):n.18C>T	noncoding	Benign
14	53951693	G	A	G53951693A	BMP4	NM_001202.6(BMP4):c.370+160C>T	noncoding	Benign
14	53952268	T	C	T53952268C	BMP4	NM_001202.6(BMP4):c.-7-39A>G	noncoding	Benign
14	53952362	C	G	C53952362G	BMP4	NM_001202.6(BMP4):c.-7-133G>C	noncoding	Benign
14	53952388	A	C	A53952388C	BMP4	NM_001202.6(BMP4):c.-7-159T>G	noncoding	Benign
14	53952392	G	C	G53952392C	BMP4	NM_001202.6(BMP4):c.-7-163C>G	noncoding	Benign
14	53953247	G	A	G53953247A	BMP4	NM_001202.6(BMP4):c.-8+29C>T	noncoding	Benign
14	53953517	T	C	T53953517C	BMP4	NM_001202.6(BMP4):c.-132-117A>G	noncoding	Benign
14	54844306	C	T	C54844306T	GCH1	NM_000161.3(GCH1):c.627-163G>A	noncoding	Benign
14	54844407	T	C	T54844407C	GCH1	NM_000161.3(GCH1):c.627-264A>G	noncoding	Benign
14	54845780	A	T	A54845780T	GCH1	NM_000161.3(GCH1):c.614T>A:p.Val205Glu	coding	Pathogenic/Likely_pathogenic
14	54845793	C	A	C54845793A	GCH1	NM_000161.3(GCH1):c.601G>T:p.Gly201Ter	coding	Pathogenic
14	54845844	G	A	G54845844A	GCH1	NM_000161.3(GCH1):c.550C>T:p.Arg184Cys	coding	Pathogenic
14	54845871	G	A	G54845871A	GCH1	NM_000161.3(GCH1):c.542-19C>T	noncoding	Benign
14	54846788	C	G	C54846788G	GCH1	NM_000161.3(GCH1):c.541+311G>C	noncoding	Benign
14	54859666	C	T	C54859666T	GCH1	NM_000161.3(GCH1):c.509+15G>A	noncoding	Benign
14	54865054	A	G	A54865054G	GCH1	NM_000161.3(GCH1):c.453+273T>C	noncoding	Benign
14	54865179	T	G	T54865179G	GCH1	NM_000161.3(GCH1):c.453+148A>C	noncoding	Benign
14	54865325	A	C	A54865325C	GCH1	NM_000161.3(GCH1):c.453+2T>G	noncoding	Pathogenic
14	54865326	C	G	C54865326G	GCH1	NM_000161.3(GCH1):c.453+1G>C	noncoding	Pathogenic
14	54865438	T	C	T54865438C	GCH1	NM_000161.3(GCH1):c.344-2A>G	noncoding	Pathogenic
14	54882151	C	T	C54882151T	GCH1	NM_000161.3(GCH1):c.344-16715G>A	noncoding	Benign
14	54902177	G	A	G54902177A	GCH1	NM_000161.3(GCH1):c.343+144C>T	noncoding	Benign
14	54902185	G	A	G54902185A	GCH1	NM_000161.3(GCH1):c.343+136C>T	noncoding	Benign
14	54902268	G	C	G54902268C	GCH1	NM_000161.3(GCH1):c.343+53C>G	noncoding	Benign
14	54902342	C	T	C54902342T	GCH1	NM_000161.3(GCH1):c.322G>A:p.Gly108Ser	coding	Pathogenic
14	54902506	C	T	C54902506T	GCH1	NM_000161.3(GCH1):c.158G>A:p.Trp53Ter	coding	Pathogenic
14	54902555	C	A	C54902555A	GCH1	NM_000161.3(GCH1):c.109G>T:p.Glu37Ter	coding	Pathogenic
14	54902595	G	A	G54902595A	GCH1	NM_000161.3(GCH1):c.69C>T:p.Pro23=	coding	Benign/Likely_benign
14	54903040	A	C	A54903040C	GCH1	Single_allele	noncoding	Benign
14	56585759	A	G	A56585759G	TMEM260	NM_017799.4(TMEM260):c.193-2A>G	noncoding	Pathogenic
14	56585912	G	A	G56585912A	TMEM260	NM_017799.4(TMEM260):c.344G>A:p.Arg115Lys	coding	Pathogenic
14	56603783	A	G	A56603783G	TMEM260	NM_017799.4(TMEM260):c.345-32A>G	noncoding	Benign
14	56615930	A	G	A56615930G	TMEM260	NM_017799.4(TMEM260):c.858-14A>G	noncoding	Benign
14	56618607	G	A	G56618607A	TMEM260	NM_017799.4(TMEM260):c.1070G>A:p.Trp357Ter	coding	Pathogenic
14	56633141	G	A	G56633141A	TMEM260	NM_017799.4(TMEM260):c.1694G>A:p.Ser565Asn	coding	Benign
14	56634964	A	G	A56634964G	TMEM260	NM_017799.4(TMEM260):c.1778+12A>G	noncoding	Benign
14	56802080	A	C	A56802080C	OTX2	NM_021728.4(OTX2):c.549T>G:p.Tyr183Ter	coding	Pathogenic
14	56803966	C	G	C56803966G	OTX2	NM_021728.4(OTX2):c.273+222G>C	noncoding	Benign
14	56804409	G	T	G56804409T	OTX2	NM_021728.4(OTX2):c.98-46C>A	noncoding	Benign
14	56805340	G	A	G56805340A	OTX2	NM_021728.4(OTX2):c.97+20C>T	noncoding	Benign
14	58252212	A	G	A58252212G	PSMA3	NM_002788.4(PSMA3):c.198A>G:p.Arg66=	coding	Benign
14	58257725	A	C	A58257725C	PSMA3	NM_002788.4(PSMA3):c.229-20A>C	noncoding	Benign
14	58257912	C	T	C58257912T	PSMA3	NM_002788.4(PSMA3):c.331-13C>T	noncoding	Benign
14	58261020	C	T	C58261020T	PSMA3	NM_002788.4(PSMA3):c.477C>T:p.Tyr159=	coding	Benign
14	58270411	A	G	A58270411G	PSMA3	NM_002788.4(PSMA3):c.591-7A>G	noncoding	Benign
14	58427073	T	G	T58427073G	KIAA0586	NM_012460.4(TIMM9):c.-134A>C	noncoding	Benign
14	58427095	G	C	G58427095C	KIAA0586	NM_012460.4(TIMM9):c.-156C>G	noncoding	Benign
14	58427859	T	C	T58427859C	KIAA0586	NM_001329943.3(KIAA0586):c.-406T>C	noncoding	Benign
14	58428289	G	T	G58428289T	KIAA0586	NM_001329943.3(KIAA0586):c.25G>T:p.Glu9Ter	coding	Pathogenic
14	58428390	T	A	T58428390A	KIAA0586	NM_001329943.3(KIAA0586):c.126T>A:p.Cys42Ter	coding	Pathogenic
14	58428738	G	A	G58428738A	KIAA0586	NM_001329943.3(KIAA0586):c.199+275G>A	noncoding	Benign
14	58429349	C	A	C58429349A	KIAA0586	NM_001329943.3(KIAA0586):c.200-14C>A	noncoding	Benign
14	58430732	T	C	T58430732C	KIAA0586	NM_001329943.3(KIAA0586):c.340+15T>C	noncoding	Benign
14	58442801	C	A	C58442801A	KIAA0586	NM_001329943.3(KIAA0586):c.506C>A:p.Ser169Ter	coding	Pathogenic
14	58443825	C	A	C58443825A	KIAA0586	NM_001329943.3(KIAA0586):c.586-129C>A	noncoding	Benign
14	58444514	C	T	C58444514T	KIAA0586	NM_001329943.3(KIAA0586):c.807+339C>T	noncoding	Benign
14	58448059	C	T	C58448059T	KIAA0586	NM_001329943.3(KIAA0586):c.808-281C>T	noncoding	Benign
14	58448636	A	T	A58448636T	KIAA0586	NM_001329943.3(KIAA0586):c.961+143A>T	noncoding	Benign
14	58450507	C	G	C58450507G	KIAA0586	NM_001329943.3(KIAA0586):c.962-72C>G	noncoding	Benign
14	58450736	G	A	G58450736A	KIAA0586	NM_001329943.3(KIAA0586):c.1119G>A:p.Ser373=	coding	Benign
14	58453223	G	C	G58453223C	KIAA0586	NM_001329943.3(KIAA0586):c.1130-127G>C	noncoding	Benign
14	58453334	A	C	A58453334C	KIAA0586	NM_001329943.3(KIAA0586):c.1130-16A>C	noncoding	Benign/Likely_benign
14	58453522	A	C	A58453522C	KIAA0586	NM_001329943.3(KIAA0586):c.1253+49A>C	noncoding	Benign
14	58453762	G	T	G58453762T	KIAA0586	NM_001329943.3(KIAA0586):c.1253+289G>T	noncoding	Benign
14	58453765	A	T	A58453765T	KIAA0586	NM_001329943.3(KIAA0586):c.1253+292A>T	noncoding	Benign
14	58456677	G	A	G58456677A	KIAA0586	NM_001329943.3(KIAA0586):c.1254-25G>A	noncoding	Benign
14	58456771	C	T	C58456771T	KIAA0586	NM_001329943.3(KIAA0586):c.1323C>T:p.Asp441=	coding	Benign
14	58457994	G	A	G58457994A	KIAA0586	NM_001329943.3(KIAA0586):c.1583+15G>A	noncoding	Benign
14	58458701	G	A	G58458701A	KIAA0586	NM_001329943.3(KIAA0586):c.1656+156G>A	noncoding	Benign
14	58459809	C	T	C58459809T	KIAA0586	NM_001329943.3(KIAA0586):c.1657-34C>T	noncoding	Benign
14	58459945	C	T	C58459945T	KIAA0586	NM_001329943.3(KIAA0586):c.1759C>T:p.Gln587Ter	coding	Pathogenic
14	58461151	C	T	C58461151T	KIAA0586	NM_001329943.3(KIAA0586):c.2050C>T:p.Arg684Ter	coding	Pathogenic
14	58461266	G	A	G58461266A	KIAA0586	NM_001329943.3(KIAA0586):c.2059+106G>A	noncoding	Benign
14	58466054	A	G	A58466054G	KIAA0586	NM_001329943.3(KIAA0586):c.2254+25A>G	noncoding	Benign
14	58467653	G	A	G58467653A	KIAA0586	NM_001329943.3(KIAA0586):c.2255-82G>A	noncoding	Benign
14	58470456	T	C	T58470456C	KIAA0586	NM_001329943.3(KIAA0586):c.2443-157T>C	noncoding	Benign
14	58470734	G	A	G58470734A	KIAA0586	NM_001329943.3(KIAA0586):c.2553+11G>A	noncoding	Benign/Likely_benign
14	58472451	A	G	A58472451G	KIAA0586	NM_001329943.3(KIAA0586):c.2634+172A>G	noncoding	Benign
14	58475051	A	G	A58475051G	KIAA0586	NM_001329943.3(KIAA0586):c.2825+254A>G	noncoding	Benign
14	58477172	C	T	C58477172T	KIAA0586	NM_001329943.3(KIAA0586):c.2875C>T:p.Gln959Ter	coding	Pathogenic
14	58477249	A	C	A58477249C	KIAA0586	NM_001329943.3(KIAA0586):c.2944+8A>C	noncoding	Benign
14	58482977	G	A	G58482977A	KIAA0586	NM_001329943.3(KIAA0586):c.3144+265G>A	noncoding	Benign
14	58486899	T	C	T58486899C	KIAA0586	NM_001329943.3(KIAA0586):c.3145-108T>C	noncoding	Benign
14	58487028	C	G	C58487028G	KIAA0586	NM_001329943.3(KIAA0586):c.3166C>G:p.Pro1056Ala	coding	Benign
14	58488311	T	C	T58488311C	KIAA0586	NM_001329943.3(KIAA0586):c.3527+202T>C	noncoding	Benign
14	58488673	C	T	C58488673T	KIAA0586	NM_001329943.3(KIAA0586):c.3580C>T:p.Gln1194Ter	coding	Pathogenic
14	58488867	C	G	C58488867G	KIAA0586	NM_001329943.3(KIAA0586):c.3774C>G:p.Ala1258=	coding	Benign
14	58488997	A	G	A58488997G	KIAA0586	NM_001329943.3(KIAA0586):c.3781+123A>G	noncoding	Benign
14	58491884	T	G	T58491884G	KIAA0586	NM_001329943.3(KIAA0586):c.3859-260T>G	noncoding	Benign
14	58498997	T	C	T58498997C	KIAA0586	NM_001329943.3(KIAA0586):c.4168+37T>C	noncoding	Benign
14	58508317	C	T	C58508317T	KIAA0586	NM_001329943.3(KIAA0586):c.4169-238C>T	noncoding	Benign
14	58508697	A	G	A58508697G	KIAA0586	NM_001329943.3(KIAA0586):c.4311A>G:p.Glu1437=	coding	Benign
14	58539832	C	A	C58539832A	KIAA0586	NM_001329943.3(KIAA0586):c.4430-239C>A	noncoding	Benign
14	58540097	C	T	C58540097T	KIAA0586	NM_001329943.3(KIAA0586):c.4456C>T:p.Gln1486Ter	coding	Pathogenic
14	58547742	T	A	T58547742A	KIAA0586	NM_001329943.3(KIAA0586):c.4496-39T>A	noncoding	Benign
14	58547765	C	T	C58547765T	KIAA0586	NM_001329943.3(KIAA0586):c.4496-16C>T	noncoding	Benign
14	58638470	C	T	C58638470T	DACT1	NM_001079520.2(DACT1):c.268C>T:p.Leu90=	coding	Benign
14	58645959	G	A	G58645959A	DACT1	NM_001079520.2(DACT1):c.1225G>A:p.Asp409Asn	coding	Benign
14	58646014	C	T	C58646014T	DACT1	NM_001079520.2(DACT1):c.1280C>T:p.Ala427Val	coding	Benign
14	58646712	G	A	G58646712A	DACT1	NM_001079520.2(DACT1):c.1978G>A:p.Gly660Ser	coding	Benign
14	60457098	G	C	G60457098C	C14orf39	NM_174978.3(C14orf39):c.1180-3C>G	noncoding	Pathogenic
14	60465993	C	A	C60465993A	C14orf39	NM_174978.3(C14orf39):c.958G>T:p.Glu320Ter	coding	Pathogenic
14	60509419	G	A	G60509419A	SIX6	NM_007374.3(SIX6):c.21G>A:p.Leu7=	coding	Benign/Likely_benign
14	60510900	G	A	G60510900A	SIX6	NM_007374.3(SIX6):c.573-184G>A	noncoding	Benign
14	60646523	A	C	A60646523C	SIX1	NM_005982.4(SIX1):c.615T>G:p.Pro205=	coding	Benign/Likely_benign
14	60648794	C	G	C60648794G	SIX1	NM_005982.4(SIX1):c.396G>C:p.Lys132Asn	coding	Pathogenic
14	60979233	A	G	A60979233G	TRMT5	NM_020810.3(TRMT5):c.665T>C:p.Ile222Thr	coding	Pathogenic
14	60980755	A	G	A60980755G	TRMT5	NM_020810.3(TRMT5):c.11+208T>C	noncoding	Benign
14	60980944	A	C	A60980944C	TRMT5	NM_020810.3(TRMT5):c.11+19T>G	noncoding	Benign
14	61721575	G	A	G61721575A	HIF1A	NM_001530.4(HIF1A):c.293G>A:p.Gly98Asp	coding	Pathogenic
14	62707527	T	C	T62707527C	KCNH5	NM_139318.5(KCNH5):c.2948A>G:p.Lys983Arg	coding	Benign
14	62707645	C	T	C62707645T	KCNH5	NM_139318.5(KCNH5):c.2830G>A:p.Glu944Lys	coding	Benign
14	62707843	C	T	C62707843T	KCNH5	NM_139318.5(KCNH5):c.2632G>A:p.Ala878Thr	coding	Benign
14	62707844	C	T	C62707844T	KCNH5	NM_139318.5(KCNH5):c.2631G>A:p.Lys877=	coding	Benign
14	62707898	T	C	T62707898C	KCNH5	NM_139318.5(KCNH5):c.2577A>G:p.Arg859=	coding	Benign
14	62707918	C	T	C62707918T	KCNH5	NM_139318.5(KCNH5):c.2557G>A:p.Val853Met	coding	Benign
14	62708140	G	A	G62708140A	KCNH5	NM_139318.5(KCNH5):c.2335C>T:p.Arg779Cys	coding	Benign
14	62708233	T	A	T62708233A	KCNH5	NM_139318.5(KCNH5):c.2242A>T:p.Thr748Ser	coding	Benign
14	62708233	T	C	T62708233C	KCNH5	NM_139318.5(KCNH5):c.2242A>G:p.Thr748Ala	coding	Benign
14	62708242	C	T	C62708242T	KCNH5	NM_139318.5(KCNH5):c.2233G>A:p.Ala745Thr	coding	Benign
14	62779777	G	C	G62779777C	KCNH5	NM_139318.5(KCNH5):c.1970C>G:p.Ala657Gly	coding	Benign
14	62779787	T	C	T62779787C	KCNH5	NM_139318.5(KCNH5):c.1960A>G:p.Thr654Ala	coding	Benign
14	62802311	T	G	T62802311G	KCNH5	NM_139318.5(KCNH5):c.1822+18A>C	noncoding	Benign
14	62802349	T	C	T62802349C	KCNH5	NM_139318.5(KCNH5):c.1802A>G:p.Asp601Gly	coding	Benign
14	62802599	T	C	T62802599C	KCNH5	NM_139318.5(KCNH5):c.1570-18A>G	noncoding	Benign
14	62849709	C	T	C62849709T	KCNH5	NM_139318.5(KCNH5):c.1513G>A:p.Val505Ile	coding	Benign
14	62950140	C	T	C62950140T	KCNH5	NM_139318.5(KCNH5):c.1362G>A:p.Met454Ile	coding	Benign
14	62950300	C	T	C62950300T	KCNH5	NM_139318.5(KCNH5):c.1202G>A:p.Arg401His	coding	Benign
14	62950301	G	A	G62950301A	KCNH5	NM_139318.5(KCNH5):c.1201C>T:p.Arg401Cys	coding	Benign
14	62950504	C	T	C62950504T	KCNH5	NM_139318.5(KCNH5):c.998G>A:p.Arg333His	coding	Pathogenic
14	62950577	A	C	A62950577C	KCNH5	NM_139318.5(KCNH5):c.943-18T>G	noncoding	Benign
14	62980920	C	G	C62980920G	KCNH5	NM_139318.5(KCNH5):c.894G>C:p.Leu298=	coding	Benign
14	62981078	C	A	C62981078A	KCNH5	NM_139318.5(KCNH5):c.736G>T:p.Ala246Ser	coding	Benign
14	62981081	T	A	T62981081A	KCNH5	NM_139318.5(KCNH5):c.733A>T:p.Ile245Leu	coding	Benign
14	62987055	A	G	A62987055G	KCNH5	NM_139318.5(KCNH5):c.549+17T>C	noncoding	Benign
14	62987147	A	C	A62987147C	KCNH5	NM_139318.5(KCNH5):c.474T>G:p.Asn158Lys	coding	Benign
14	63006446	T	C	T63006446C	KCNH5	NM_139318.5(KCNH5):c.224A>G:p.Lys75Arg	coding	Benign
14	63016825	A	C	A63016825C	KCNH5	NM_139318.5(KCNH5):c.197+6T>G	noncoding	Benign
14	63045172	C	G	C63045172G	KCNH5	NM_139318.5(KCNH5):c.15G>C:p.Lys5Asn	coding	Benign
14	63045181	C	A	C63045181A	KCNH5	NM_139318.5(KCNH5):c.6G>T:p.Pro2=	coding	Benign
14	63909267	G	T	G63909267T	SYNE2	NM_182914.3(SYNE2):c.79+40G>T	noncoding	Benign
14	63940457	C	G	C63940457G	SYNE2	NM_182914.3(SYNE2):c.80-157C>G	noncoding	Benign
14	63941417	A	C	A63941417C	SYNE2	NM_182914.3(SYNE2):c.142-278A>C	noncoding	Benign
14	63941923	C	T	C63941923T	SYNE2	NM_182914.3(SYNE2):c.276C>T:p.Ile92=	coding	Benign
14	63942030	C	T	C63942030T	SYNE2	NM_182914.3(SYNE2):c.316-21C>T	noncoding	Benign
14	63942132	C	T	C63942132T	SYNE2	NM_182914.3(SYNE2):c.397C>T:p.Leu133=	coding	Benign
14	63942264	A	G	A63942264G	SYNE2	NM_182914.3(SYNE2):c.408+121A>G	noncoding	Benign
14	63942297	T	C	T63942297C	SYNE2	NM_182914.3(SYNE2):c.408+154T>C	noncoding	Benign
14	63942325	T	C	T63942325C	SYNE2	NM_182914.3(SYNE2):c.408+182T>C	noncoding	Benign
14	63950018	G	T	G63950018T	SYNE2	NM_182914.3(SYNE2):c.590+12G>T	noncoding	Benign
14	63950096	A	G	A63950096G	SYNE2	NM_182914.3(SYNE2):c.590+90A>G	noncoding	Benign
14	63950166	G	A	G63950166A	SYNE2	NM_182914.3(SYNE2):c.590+160G>A	noncoding	Benign
14	63950180	T	G	T63950180G	SYNE2	NM_182914.3(SYNE2):c.590+174T>G	noncoding	Benign
14	63950247	A	G	A63950247G	SYNE2	NM_182914.3(SYNE2):c.590+241A>G	noncoding	Benign
14	63954674	G	A	G63954674A	SYNE2	NM_182914.3(SYNE2):c.591-45G>A	noncoding	Benign
14	63961436	A	G	A63961436G	SYNE2	NM_182914.3(SYNE2):c.788-89A>G	noncoding	Benign
14	63961642	A	G	A63961642G	SYNE2	NM_182914.3(SYNE2):c.888+17A>G	noncoding	Benign
14	63963549	G	T	G63963549T	SYNE2	NM_182914.3(SYNE2):c.889-350G>T	noncoding	Benign
14	63963883	T	C	T63963883C	SYNE2	NM_182914.3(SYNE2):c.889-16T>C	noncoding	Benign
14	63964051	C	T	C63964051T	SYNE2	NM_182914.3(SYNE2):c.990+51C>T	noncoding	Benign
14	63964052	G	A	G63964052A	SYNE2	NM_182914.3(SYNE2):c.990+52G>A	noncoding	Benign
14	63967570	G	A	G63967570A	SYNE2	NM_182914.3(SYNE2):c.991-139G>A	noncoding	Benign
14	63976287	T	C	T63976287C	SYNE2	NM_182914.3(SYNE2):c.1129-276T>C	noncoding	Benign
14	63977838	T	C	T63977838C	SYNE2	NM_182914.3(SYNE2):c.1294-67T>C	noncoding	Benign
14	63978158	G	A	G63978158A	SYNE2	NM_182914.3(SYNE2):c.1406+141G>A	noncoding	Benign
14	63980635	T	C	T63980635C	SYNE2	NM_182914.3(SYNE2):c.1570-19T>C	noncoding	Benign
14	63980750	C	T	C63980750T	SYNE2	NM_182914.3(SYNE2):c.1648+18C>T	noncoding	Benign
14	63981061	A	G	A63981061G	SYNE2	NM_182914.3(SYNE2):c.1724A>G:p.Tyr575Cys	coding	Benign
14	63982441	T	G	T63982441G	SYNE2	NM_182914.3(SYNE2):c.1837-189T>G	noncoding	Benign
14	63983005	A	G	A63983005G	SYNE2	NM_182914.3(SYNE2):c.2001+211A>G	noncoding	Benign
14	63986159	G	A	G63986159A	SYNE2	NM_182914.3(SYNE2):c.2152-297G>A	noncoding	Benign
14	63986406	T	G	T63986406G	SYNE2	NM_182914.3(SYNE2):c.2152-50T>G	noncoding	Benign
14	63990109	A	G	A63990109G	SYNE2	NM_182914.3(SYNE2):c.2314-302A>G	noncoding	Benign
14	63990211	G	A	G63990211A	SYNE2	NM_182914.3(SYNE2):c.2314-200G>A	noncoding	Benign
14	63990361	G	A	G63990361A	SYNE2	NM_182914.3(SYNE2):c.2314-50G>A	noncoding	Benign
14	63990391	A	G	A63990391G	SYNE2	NM_182914.3(SYNE2):c.2314-20A>G	noncoding	Benign
14	63990920	T	G	T63990920G	SYNE2	NM_182914.3(SYNE2):c.2473-22T>G	noncoding	Benign
14	63993653	T	G	T63993653G	SYNE2	NM_182914.3(SYNE2):c.2647-182T>G	noncoding	Benign
14	63993654	T	C	T63993654C	SYNE2	NM_182914.3(SYNE2):c.2647-181T>C	noncoding	Benign
14	63995289	A	C	A63995289C	SYNE2	NM_182914.3(SYNE2):c.2940+87A>C	noncoding	Benign
14	63995348	C	T	C63995348T	SYNE2	NM_182914.3(SYNE2):c.2940+146C>T	noncoding	Benign
14	63995353	G	T	G63995353T	SYNE2	NM_182914.3(SYNE2):c.2940+151G>T	noncoding	Benign
14	63996976	C	A	C63996976A	SYNE2	NM_182914.3(SYNE2):c.2970C>A:p.Tyr990Ter	coding	Pathogenic
14	63997518	C	A	C63997518A	SYNE2	NM_182914.3(SYNE2):c.3243+127C>A	noncoding	Benign
14	63998346	A	G	A63998346G	SYNE2	NM_182914.3(SYNE2):c.3353+18A>G	noncoding	Benign
14	64000352	T	C	T64000352C	SYNE2	NM_182914.3(SYNE2):c.3481-210T>C	noncoding	Benign
14	64000933	A	G	A64000933G	SYNE2	NM_182914.3(SYNE2):c.3638+214A>G	noncoding	Benign
14	64001009	T	C	T64001009C	SYNE2	NM_182914.3(SYNE2):c.3638+290T>C	noncoding	Benign
14	64001781	G	A	G64001781A	SYNE2	NM_182914.3(SYNE2):c.3639-153G>A	noncoding	Benign
14	64002200	G	A	G64002200A	SYNE2	NM_182914.3(SYNE2):c.3786+119G>A	noncoding	Benign
14	64002552	T	G	T64002552G	SYNE2	NM_182914.3(SYNE2):c.3787-168T>G	noncoding	Benign
14	64003419	C	A	C64003419A	SYNE2	NM_182914.3(SYNE2):c.4397+89C>A	noncoding	Benign
14	64007058	C	A	C64007058A	SYNE2	NM_182914.3(SYNE2):c.4413C>A:p.Ile1471=	coding	Benign
14	64007403	C	T	C64007403T	SYNE2	NM_182914.3(SYNE2):c.4577+181C>T	noncoding	Benign
14	64007470	T	C	T64007470C	SYNE2	NM_182914.3(SYNE2):c.4577+248T>C	noncoding	Benign
14	64007509	A	C	A64007509C	SYNE2	NM_182914.3(SYNE2):c.4577+287A>C	noncoding	Benign
14	64016358	G	A	G64016358A	SYNE2	NM_182914.3(SYNE2):c.4729-115G>A	noncoding	Benign
14	64020215	A	C	A64020215C	SYNE2	NM_182914.3(SYNE2):c.5151+122A>C	noncoding	Benign
14	64021615	C	T	C64021615T	SYNE2	NM_182914.3(SYNE2):c.5352+100C>T	noncoding	Benign
14	64022163	T	G	T64022163G	SYNE2	NM_182914.3(SYNE2):c.5524+135T>G	noncoding	Benign
14	64022573	A	G	A64022573G	SYNE2	NM_182914.3(SYNE2):c.5525-178A>G	noncoding	Benign
14	64024489	A	G	A64024489G	SYNE2	NM_182914.3(SYNE2):c.5840+30A>G	noncoding	Benign
14	64024739	C	A	C64024739A	SYNE2	NM_182914.3(SYNE2):c.5841-173C>A	noncoding	Benign
14	64025029	G	A	G64025029A	SYNE2	NM_182914.3(SYNE2):c.5958G>A:p.Lys1986=	coding	Benign
14	64026692	G	A	G64026692A	SYNE2	NM_182914.3(SYNE2):c.6366G>A:p.Gln2122=	coding	Benign
14	64027246	C	T	C64027246T	SYNE2	NM_182914.3(SYNE2):c.6405-238C>T	noncoding	Benign
14	64027443	C	T	C64027443T	SYNE2	NM_182914.3(SYNE2):c.6405-41C>T	noncoding	Benign
14	64029709	C	G	C64029709G	SYNE2	NM_182914.3(SYNE2):c.6715-186C>G	noncoding	Benign
14	64030154	G	C	G64030154C	SYNE2	NM_182914.3(SYNE2):c.6879+95G>C	noncoding	Benign
14	64030829	G	A	G64030829A	SYNE2	NM_182914.3(SYNE2):c.6880-187G>A	noncoding	Benign
14	64047715	T	C	T64047715C	SYNE2	NM_182914.3(SYNE2):c.7222-285T>C	noncoding	Benign
14	64048357	G	A	G64048357A	SYNE2	NM_182914.3(SYNE2):c.7377+202G>A	noncoding	Benign
14	64051920	C	A	C64051920A	SYNE2	NM_182914.3(SYNE2):c.8007C>A:p.Thr2669=	coding	Benign
14	64052316	C	T	C64052316T	SYNE2	NM_182914.3(SYNE2):c.8403C>T:p.Gly2801=	coding	Benign
14	64052877	C	T	C64052877T	SYNE2	NM_182914.3(SYNE2):c.8964C>T:p.Leu2988=	coding	Benign/Likely_benign
14	64052880	C	T	C64052880T	SYNE2	NM_182914.3(SYNE2):c.8967C>T:p.Thr2989=	coding	Benign
14	64056376	G	A	G64056376A	SYNE2	NM_182914.3(SYNE2):c.10067+110G>A	noncoding	Benign
14	64056438	A	G	A64056438G	SYNE2	NM_182914.3(SYNE2):c.10067+172A>G	noncoding	Benign
14	64062654	T	G	T64062654G	SYNE2	NM_182914.3(SYNE2):c.10068-97T>G	noncoding	Benign
14	64065285	T	A	T64065285A	SYNE2	NM_182914.3(SYNE2):c.10213-147T>A	noncoding	Benign
14	64065389	A	G	A64065389G	SYNE2	NM_182914.3(SYNE2):c.10213-43A>G	noncoding	Benign
14	64065696	T	A	T64065696A	SYNE2	NM_182914.3(SYNE2):c.10431+46T>A	noncoding	Benign
14	64070491	T	C	T64070491C	SYNE2	NM_182914.3(SYNE2):c.10432-154T>C	noncoding	Benign
14	64070577	T	G	T64070577G	SYNE2	NM_182914.3(SYNE2):c.10432-68T>G	noncoding	Benign
14	64070607	A	C	A64070607C	SYNE2	NM_182914.3(SYNE2):c.10432-38A>C	noncoding	Benign
14	64070926	A	C	A64070926C	SYNE2	NM_182914.3(SYNE2):c.10697+16A>C	noncoding	Benign
14	64070939	G	A	G64070939A	SYNE2	NM_182914.3(SYNE2):c.10697+29G>A	noncoding	Benign
14	64070945	T	G	T64070945G	SYNE2	NM_182914.3(SYNE2):c.10697+35T>G	noncoding	Benign
14	64071111	G	A	G64071111A	SYNE2	NM_182914.3(SYNE2):c.10697+201G>A	noncoding	Benign
14	64073719	G	A	G64073719A	SYNE2	NM_182914.3(SYNE2):c.10698-249G>A	noncoding	Benign
14	64074238	C	T	C64074238T	SYNE2	NM_182914.3(SYNE2):c.10866+102C>T	noncoding	Benign
14	64075926	A	G	A64075926G	SYNE2	NM_182914.3(SYNE2):c.10867-19A>G	noncoding	Benign
14	64076154	G	A	G64076154A	SYNE2	NM_182914.3(SYNE2):c.11022+54G>A	noncoding	Benign
14	64080165	G	T	G64080165T	SYNE2	NM_182914.3(SYNE2):c.11164-291G>T	noncoding	Benign
14	64080328	G	A	G64080328A	SYNE2	NM_182914.3(SYNE2):c.11164-128G>A	noncoding	Benign
14	64081342	C	G	C64081342G	SYNE2	NM_182914.3(SYNE2):c.11347-101C>G	noncoding	Benign
14	64081414	C	G	C64081414G	SYNE2	NM_182914.3(SYNE2):c.11347-29C>G	noncoding	Benign
14	64081701	C	G	C64081701G	SYNE2	NM_182914.3(SYNE2):c.11484+121C>G	noncoding	Benign
14	64087370	G	A	G64087370A	SYNE2	NM_182914.3(SYNE2):c.11485-301G>A	noncoding	Benign
14	64087548	G	A	G64087548A	SYNE2	NM_182914.3(SYNE2):c.11485-123G>A	noncoding	Benign
14	64089553	T	C	T64089553C	SYNE2	NM_182914.3(SYNE2):c.11671-21T>C	noncoding	Benign
14	64090689	T	C	T64090689C	SYNE2	NM_182914.3(SYNE2):c.11794-177T>C	noncoding	Benign
14	64090726	G	A	G64090726A	SYNE2	NM_182914.3(SYNE2):c.11794-140G>A	noncoding	Benign
14	64090849	C	T	C64090849T	SYNE2	NM_182914.3(SYNE2):c.11794-17C>T	noncoding	Benign
14	64093094	A	G	A64093094G	SYNE2	NM_182914.3(SYNE2):c.11977-255A>G	noncoding	Benign
14	64097809	C	T	C64097809T	SYNE2	NM_182914.3(SYNE2):c.12109-140C>T	noncoding	Benign
14	64097847	G	A	G64097847A	SYNE2	NM_182914.3(SYNE2):c.12109-102G>A	noncoding	Benign
14	64098517	C	T	C64098517T	SYNE2	NM_182914.3(SYNE2):c.12307-230C>T	noncoding	Benign
14	64098786	G	A	G64098786A	SYNE2	NM_182914.3(SYNE2):c.12346G>A:p.Glu4116Lys	coding	Benign
14	64098864	T	C	T64098864C	SYNE2	NM_182914.3(SYNE2):c.12381+43T>C	noncoding	Benign
14	64098957	A	C	A64098957C	SYNE2	NM_182914.3(SYNE2):c.12381+136A>C	noncoding	Benign
14	64101778	T	A	T64101778A	SYNE2	NM_182914.3(SYNE2):c.12382-154T>A	noncoding	Benign
14	64102009	C	T	C64102009T	SYNE2	NM_182914.3(SYNE2):c.12459C>T:p.Asp4153=	coding	Benign
14	64102079	G	A	G64102079A	SYNE2	NM_182914.3(SYNE2):c.12492+37G>A	noncoding	Benign
14	64107422	C	A	C64107422A	SYNE2	NM_182914.3(SYNE2):c.12493-69C>A	noncoding	Benign
14	64107623	T	C	T64107623C	SYNE2	NM_182914.3(SYNE2):c.12609+16T>C	noncoding	Benign
14	64107846	T	A	T64107846A	SYNE2	NM_182914.3(SYNE2):c.12609+239T>A	noncoding	Benign
14	64113650	A	G	A64113650G	SYNE2	NM_182914.3(SYNE2):c.12840+79A>G	noncoding	Benign
14	64119178	C	T	C64119178T	SYNE2	NM_182914.3(SYNE2):c.12841-249C>T	noncoding	Benign
14	64119573	C	T	C64119573T	SYNE2	NM_182914.3(SYNE2):c.12987C>T:p.Val4329=	coding	Benign
14	64119627	A	G	A64119627G	SYNE2	NM_182914.3(SYNE2):c.13023+18A>G	noncoding	Benign
14	64119649	A	G	A64119649G	SYNE2	NM_182914.3(SYNE2):c.13023+40A>G	noncoding	Benign
14	64120809	C	G	C64120809G	SYNE2	NM_182914.3(SYNE2):c.13024-118C>G	noncoding	Benign
14	64120815	A	C	A64120815C	SYNE2	NM_182914.3(SYNE2):c.13024-112A>C	noncoding	Benign
14	64121674	C	A	C64121674A	SYNE2	NM_182914.3(SYNE2):c.13159-338C>A	noncoding	Benign
14	64122239	A	C	A64122239C	SYNE2	NM_182914.3(SYNE2):c.13281-47A>C	noncoding	Benign
14	64122313	C	T	C64122313T	SYNE2	NM_182914.3(SYNE2):c.13308C>T:p.Asp4436=	coding	Benign
14	64122507	T	G	T64122507G	SYNE2	NM_182914.3(SYNE2):c.13422+80T>G	noncoding	Benign
14	64125250	C	T	C64125250T	SYNE2	NM_182914.3(SYNE2):c.13554+40C>T	noncoding	Benign
14	64126160	G	A	G64126160A	SYNE2	NM_182914.3(SYNE2):c.13555-167G>A	noncoding	Benign
14	64128172	G	A	G64128172A	SYNE2	NM_182914.3(SYNE2):c.13918-280G>A	noncoding	Benign
14	64128435	C	T	C64128435T	SYNE2	NM_182914.3(SYNE2):c.13918-17C>T	noncoding	Benign
14	64128436	G	A	G64128436A	SYNE2	NM_182914.3(SYNE2):c.13918-16G>A	noncoding	Benign/Likely_benign
14	64129806	C	T	C64129806T	SYNE2	NM_182914.3(SYNE2):c.14044C>T:p.Leu4682=	coding	Benign
14	64130468	A	G	A64130468G	SYNE2	NM_182914.3(SYNE2):c.14340+220A>G	noncoding	Benign
14	64132218	G	T	G64132218T	SYNE2	NM_182914.3(SYNE2):c.14341-47G>T	noncoding	Benign
14	64133969	A	G	A64133969G	SYNE2	NM_182914.3(SYNE2):c.14515-100A>G	noncoding	Benign
14	64134188	T	A	T64134188A	SYNE2	NM_182914.3(SYNE2):c.14634T>A:p.Ile4878=	coding	Benign
14	64134324	A	G	A64134324G	SYNE2	NM_182914.3(SYNE2):c.14646+124A>G	noncoding	Benign
14	64137563	A	G	A64137563G	SYNE2	NM_182914.3(SYNE2):c.14647-224A>G	noncoding	Benign
14	64137963	T	C	T64137963C	SYNE2	NM_182914.3(SYNE2):c.14823T>C:p.Ala4941=	coding	Benign
14	64140151	A	T	A64140151T	SYNE2	NM_182914.3(SYNE2):c.14976+78A>T	noncoding	Benign
14	64141924	A	G	A64141924G	SYNE2	NM_182914.3(SYNE2):c.15160-18A>G	noncoding	Benign
14	64143502	G	T	G64143502T	SYNE2	NM_182914.3(SYNE2):c.15307-270G>T	noncoding	Benign
14	64143636	G	A	G64143636A	SYNE2	NM_182914.3(SYNE2):c.15307-136G>A	noncoding	Benign
14	64145873	A	T	A64145873T	SYNE2	NM_182914.3(SYNE2):c.15484-195A>T	noncoding	Benign
14	64145937	C	G	C64145937G	SYNE2	NM_182914.3(SYNE2):c.15484-131C>G	noncoding	Benign
14	64146208	G	A	G64146208A	SYNE2	NM_182914.3(SYNE2):c.15624G>A:p.Leu5208=	coding	Benign
14	64152318	G	A	G64152318A	SYNE2	NM_182914.3(SYNE2):c.15640-246G>A	noncoding	Benign
14	64158463	T	A	T64158463A	SYNE2	NM_182914.3(SYNE2):c.15793-162T>A	noncoding	Benign
14	64158606	G	A	G64158606A	SYNE2	NM_182914.3(SYNE2):c.15793-19G>A	noncoding	Benign
14	64159039	A	G	A64159039G	SYNE2	NM_182914.3(SYNE2):c.15963+244A>G	noncoding	Benign
14	64159141	C	T	C64159141T	SYNE2	NM_182914.3(SYNE2):c.15964-171C>T	noncoding	Benign
14	64161974	C	T	C64161974T	SYNE2	NM_182914.3(SYNE2):c.16095-98C>T	noncoding	Benign
14	64162130	C	T	C64162130T	SYNE2	NM_182914.3(SYNE2):c.16153C>T:p.Gln5385Ter	coding	Pathogenic
14	64165497	C	T	C64165497T	SYNE2	NM_182914.3(SYNE2):c.16605+87C>T	noncoding	Benign
14	64166972	C	T	C64166972T	SYNE2	NM_182914.3(SYNE2):c.16606-261C>T	noncoding	Benign
14	64175300	T	C	T64175300C	SYNE2	NM_182914.3(SYNE2):c.17430+162T>C	noncoding	Benign
14	64177465	C	T	C64177465T	SYNE2	NM_182914.3(SYNE2):c.17538C>T:p.Asn5846=	coding	Benign
14	64188443	C	T	C64188443T	SYNE2	NM_182914.3(SYNE2):c.17713-107C>T	noncoding	Benign
14	64202645	A	C	A64202645C	SYNE2	NM_182914.3(SYNE2):c.18039-156A>C	noncoding	Benign
14	64202952	G	A	G64202952A	SYNE2	NM_182914.3(SYNE2):c.18190G>A:p.Ala6064Thr	coding	Benign/Likely_benign
14	64203053	C	T	C64203053T	SYNE2	NM_182914.3(SYNE2):c.18201+90C>T	noncoding	Benign
14	64208468	G	A	G64208468A	SYNE2	NM_182914.3(SYNE2):c.18202-290G>A	noncoding	Benign
14	64209177	C	T	C64209177T	SYNE2	NM_182914.3(SYNE2):c.18389+232C>T	noncoding	Benign
14	64209380	A	G	A64209380G	SYNE2	NM_182914.3(SYNE2):c.18390-48A>G	noncoding	Benign
14	64209929	C	G	C64209929G	SYNE2	NM_182914.3(SYNE2):c.18541-13C>G	noncoding	Benign
14	64210141	C	G	C64210141G	SYNE2	NM_182914.3(SYNE2):c.18723+17C>G	noncoding	Benign
14	64211675	A	G	A64211675G	SYNE2	NM_182914.3(SYNE2):c.18724-286A>G	noncoding	Benign
14	64212171	T	C	T64212171C	SYNE2	NM_182914.3(SYNE2):c.18861+73T>C	noncoding	Benign
14	64212580	T	G	T64212580G	SYNE2	NM_182914.3(SYNE2):c.18862-231T>G	noncoding	Benign
14	64213029	T	C	T64213029C	SYNE2	NM_182914.3(SYNE2):c.19056+24T>C	noncoding	Benign
14	64213242	A	G	A64213242G	SYNE2	NM_182914.3(SYNE2):c.19056+237A>G	noncoding	Benign
14	64213995	A	G	A64213995G	SYNE2	NM_182914.3(SYNE2):c.19057-199A>G	noncoding	Benign
14	64214130	A	G	A64214130G	SYNE2	NM_182914.3(SYNE2):c.19057-64A>G	noncoding	Benign
14	64214298	G	A	G64214298A	SYNE2	NM_182914.3(SYNE2):c.19161G>A:p.Pro6387=	coding	Benign
14	64215271	A	G	A64215271G	SYNE2	NM_182914.3(SYNE2):c.19334-15A>G	noncoding	Benign
14	64215676	A	C	A64215676C	SYNE2	NM_182914.3(SYNE2):c.19402+322A>C	noncoding	Benign
14	64215928	G	A	G64215928A	SYNE2	NM_182914.3(SYNE2):c.19403-320G>A	noncoding	Benign
14	64219104	G	T	G64219104T	SYNE2	NM_182914.3(SYNE2):c.19658-104G>T	noncoding	Benign
14	64219112	T	G	T64219112G	SYNE2	NM_182914.3(SYNE2):c.19658-96T>G	noncoding	Benign
14	64219489	A	G	A64219489G	SYNE2	NM_182914.3(SYNE2):c.19860+79A>G	noncoding	Benign
14	64220883	C	T	C64220883T	SYNE2	NM_182914.3(SYNE2):c.20061+246C>T	noncoding	Benign
14	64223176	T	C	T64223176C	SYNE2	NM_182914.3(SYNE2):c.20191-13T>C	noncoding	Benign
14	64224381	G	C	G64224381C	SYNE2	NM_182914.3(SYNE2):c.20383-80G>C	noncoding	Benign
14	64224602	A	G	A64224602G	SYNE2	NM_182914.3(SYNE2):c.20469+55A>G	noncoding	Benign
14	64224738	C	G	C64224738G	SYNE2	NM_182914.3(SYNE2):c.20469+191C>G	noncoding	Benign
14	64224763	C	T	C64224763T	SYNE2	NM_182914.3(SYNE2):c.20469+216C>T	noncoding	Benign
14	64224925	G	C	G64224925C	SYNE2	NM_182914.3(SYNE2):c.20470-74G>C	noncoding	Benign
14	64225135	C	T	C64225135T	SYNE2	NM_182914.3(SYNE2):c.20516+90C>T	noncoding	Benign
14	64225385	G	A	G64225385A	SYNE2	NM_182914.3(SYNE2):c.20583G>A:p.Leu6861=	coding	Benign
14	64225436	C	A	C64225436A	SYNE2	NM_182914.3(SYNE2):c.20634C>A:p.Ser6878=	coding	Benign
14	64225520	C	A	C64225520A	SYNE2	NM_182914.3(SYNE2):c.20718C>A:p.Pro6906=	coding	Benign
14	64227364	T	C	T64227364C	ESR2	NR_073505.1(ESR2):n.2400A>G	noncoding	Benign
14	64227440	T	C	T64227440C	ESR2	NR_073505.1(ESR2):n.2324A>G	noncoding	Benign
14	64227477	C	T	C64227477T	ESR2	NR_073505.1(ESR2):n.2287G>A	noncoding	Benign
14	64228031	T	G	T64228031G	ESR2	NM_001040275.1(ESR2):c.1407-417A>C	coding	Benign
14	64228276	T	G	T64228276G	ESR2	NM_001040275.1(ESR2):c.1407-662A>C	noncoding	Benign
14	64228369	A	G	A64228369G	ESR2	NM_001437.3(ESR2):c.*4768T>C	noncoding	Benign
14	64233098	C	T	C64233098T	ESR2	NM_001437.3(ESR2):c.*39G>A	coding	Benign
14	64233327	T	C	T64233327C	ESR2	NM_001437.3(ESR2):c.1407-4A>G	noncoding	Benign
14	64233574	C	T	C64233574T	ESR2	NM_001437.3(ESR2):c.1407-251G>A	noncoding	Benign
14	64233581	G	A	G64233581A	ESR2	NM_001437.3(ESR2):c.1407-258C>T	noncoding	Benign
14	64234712	C	G	C64234712G	ESR2	NM_001437.3(ESR2):c.1406+258G>C	noncoding	Benign
14	64234728	T	C	T64234728C	ESR2	NM_001437.3(ESR2):c.1406+242A>G	noncoding	Benign
14	64234738	C	G	C64234738G	ESR2	NM_001437.3(ESR2):c.1406+232G>C	noncoding	Benign
14	64234926	A	G	A64234926G	ESR2	NM_001437.3(ESR2):c.1406+44T>C	noncoding	Benign
14	64249911	A	C	A64249911C	ESR2	NM_001437.3(ESR2):c.1092-232T>G	noncoding	Benign
14	64249975	A	C	A64249975C	ESR2	NM_001437.3(ESR2):c.1092-296T>G	noncoding	Benign
14	64257333	C	T	C64257333T	ESR2	NM_001437.3(ESR2):c.984G>A:p.Val328=	coding	Benign
14	64260600	C	A	C64260600A	ESR2	NM_001437.3(ESR2):c.801G>T:p.Gln267His	coding	Benign
14	64268778	G	A	G64268778A	ESR2	NM_001437.3(ESR2):c.652+17C>T	noncoding	Benign
14	64280452	A	G	A64280452G	ESR2	NM_001437.3(ESR2):c.363-299T>C	noncoding	Benign
14	64282605	G	T	G64282605T	ESR2	NM_001437.3(ESR2):c.362+19C>A	noncoding	Benign
14	64295199	A	C	A64295199C	ESR2	NM_001291712.2(ESR2):c.-91+2334T>G	noncoding	Benign
14	64388445	C	T	C64388445T	MTHFD1	NM_005956.4(MTHFD1):c.18C>T:p.Ile6=	coding	Benign
14	64415345	G	A	G64415345A	MTHFD1	NM_005956.4(MTHFD1):c.241-13G>A	noncoding	Benign
14	64426007	A	G	A64426007G	MTHFD1	NM_005956.4(MTHFD1):c.954-12A>G	noncoding	Benign
14	64426035	C	T	C64426035T	MTHFD1	NM_005956.4(MTHFD1):c.970C>T:p.Arg324Ter	coding	Pathogenic
14	64426211	T	C	T64426211C	MTHFD1	NM_005956.4(MTHFD1):c.1127+19T>C	noncoding	Benign
14	64427327	C	T	C64427327T	MTHFD1	NM_005956.4(MTHFD1):c.1128-10C>T	noncoding	Benign
14	64427492	C	A	C64427492A	MTHFD1	NM_005956.4(MTHFD1):c.1264+19C>A	noncoding	Benign
14	64430241	C	G	C64430241G	MTHFD1	NM_005956.4(MTHFD1):c.1311+11C>G	noncoding	Benign
14	64431881	C	A	C64431881A	MTHFD1	NM_005956.4(MTHFD1):c.1494+20C>A	noncoding	Benign
14	64439078	C	A	C64439078A	MTHFD1	NM_005956.4(MTHFD1):c.1598-18C>A	noncoding	Benign
14	64442034	C	T	C64442034T	MTHFD1	NM_005956.4(MTHFD1):c.1885-20C>T	noncoding	Benign
14	64442433	G	A	G64442433A	MTHFD1	NM_005956.4(MTHFD1):c.2136+31G>A	noncoding	Benign
14	64449447	C	T	C64449447T	MTHFD1	NM_005956.4(MTHFD1):c.2282C>T:p.Thr761Met	coding	Benign
14	64453844	G	T	G64453844T	MTHFD1	NM_005956.4(MTHFD1):c.2548G>T:p.Glu850Ter	coding	Pathogenic
14	64458197	G	A	G64458197A	MTHFD1	NM_005956.4(MTHFD1):c.2719-17G>A	noncoding	Benign
14	64749447	G	A	G64749447A	PLEKHG3;SPTB	NM_001355436.2(SPTB):c.6846C>T:p.Gly2282=	coding	Benign
14	64753740	A	G	A64753740G	SPTB	NM_001355436.2(SPTB):c.6399T>C:p.Gly2133=	coding	Benign
14	64767368	G	T	G64767368T	SPTB	NM_001355436.2(SPTB):c.6220-16C>A	noncoding	Benign/Likely_benign
14	64767837	C	T	C64767837T	SPTB	NM_001355436.2(SPTB):c.6045G>A:p.Ser2015=	coding	Benign
14	64769112	C	T	C64769112T	SPTB	NM_001355436.2(SPTB):c.5944G>A:p.Glu1982Lys	coding	Benign
14	64770895	C	A	C64770895A	SPTB	NM_001355436.2(SPTB):c.5788G>T:p.Glu1930Ter	coding	Pathogenic
14	64772639	C	A	C64772639A	SPTB	NM_001355436.2(SPTB):c.5494G>T:p.Glu1832Ter	coding	Pathogenic
14	64772669	C	A	C64772669A	SPTB	NM_001355436.2(SPTB):c.5464G>T:p.Glu1822Ter	coding	Pathogenic
14	64772804	C	A	C64772804A	SPTB	NM_001355436.2(SPTB):c.5329G>T:p.Glu1777Ter	coding	Pathogenic
14	64773284	C	T	C64773284T	SPTB	NM_001355436.2(SPTB):c.5114G>A:p.Trp1705Ter	coding	Pathogenic
14	64773360	C	A	C64773360A	SPTB	NM_001355436.2(SPTB):c.5038G>T:p.Glu1680Ter	coding	Pathogenic
14	64774392	C	T	C64774392T	SPTB	NM_001355436.2(SPTB):c.4973+5G>A	noncoding	Pathogenic/Likely_pathogenic
14	64774401	C	A	C64774401A	SPTB	NM_001355436.2(SPTB):c.4969G>T:p.Glu1657Ter	coding	Pathogenic
14	64774428	G	A	G64774428A	SPTB	NM_001355436.2(SPTB):c.4942C>T:p.Gln1648Ter	coding	Pathogenic
14	64774497	G	A	G64774497A	SPTB	NM_001355436.2(SPTB):c.4873C>T:p.Arg1625Ter	coding	Pathogenic
14	64775124	C	G	C64775124G	SPTB	NM_001355436.2(SPTB):c.4842+1G>C	noncoding	Pathogenic
14	64775200	G	C	G64775200C	SPTB	NM_001355436.2(SPTB):c.4767C>G:p.Tyr1589Ter	coding	Pathogenic
14	64775232	G	A	G64775232A	SPTB	NM_001355436.2(SPTB):c.4735C>T:p.Arg1579Ter	coding	Pathogenic/Likely_pathogenic
14	64775561	G	C	G64775561C	SPTB	NM_001355436.2(SPTB):c.4564-158C>G	noncoding	Benign
14	64779263	G	A	G64779263A	SPTB	NM_001355436.2(SPTB):c.4474-17C>T	noncoding	Benign
14	64779288	G	A	G64779288A	SPTB	NM_001355436.2(SPTB):c.4474-42C>T	noncoding	Benign
14	64779293	A	G	A64779293G	SPTB	NM_001355436.2(SPTB):c.4474-47T>C	noncoding	Benign
14	64779322	G	A	G64779322A	SPTB	NM_001355436.2(SPTB):c.4474-76C>T	noncoding	Benign
14	64779424	T	C	T64779424C	SPTB	NM_001355436.2(SPTB):c.4474-178A>G	noncoding	Benign
14	64779463	T	C	T64779463C	SPTB	NM_001355436.2(SPTB):c.4474-217A>G	noncoding	Benign
14	64779509	C	A	C64779509A	SPTB	NM_001355436.2(SPTB):c.4473+216G>T	noncoding	Benign
14	64779592	A	G	A64779592G	SPTB	NM_001355436.2(SPTB):c.4473+133T>C	noncoding	Benign
14	64779594	G	C	G64779594C	SPTB	NM_001355436.2(SPTB):c.4473+131C>G	noncoding	Benign
14	64779632	A	G	A64779632G	SPTB	NM_001355436.2(SPTB):c.4473+93T>C	noncoding	Benign
14	64779781	G	A	G64779781A	SPTB	NM_001355436.2(SPTB):c.4417C>T:p.Gln1473Ter	coding	Pathogenic
14	64779907	G	A	G64779907A	SPTB	NM_001355436.2(SPTB):c.4291C>T:p.Arg1431Ter	coding	Pathogenic/Likely_pathogenic
14	64782348	C	T	C64782348T	SPTB	NM_001355436.2(SPTB):c.4208G>A:p.Arg1403Gln	coding	Benign/Likely_benign
14	64784038	A	G	A64784038G	SPTB	NM_001355436.2(SPTB):c.4002+209T>C	noncoding	Benign
14	64784110	C	T	C64784110T	SPTB	NM_001355436.2(SPTB):c.4002+137G>A	noncoding	Benign
14	64784221	A	G	A64784221G	SPTB	NM_001355436.2(SPTB):c.4002+26T>C	noncoding	Benign
14	64784313	C	T	C64784313T	SPTB	NM_001355436.2(SPTB):c.3936G>A:p.Trp1312Ter	coding	Pathogenic/Likely_pathogenic
14	64784333	G	A	G64784333A	SPTB	NM_001355436.2(SPTB):c.3916C>T:p.Arg1306Ter	coding	Pathogenic/Likely_pathogenic
14	64785536	C	T	C64785536T	SPTB	NM_001355436.2(SPTB):c.3855+1G>A	noncoding	Pathogenic
14	64785542	G	A	G64785542A	SPTB	NM_001355436.2(SPTB):c.3850C>T:p.Gln1284Ter	coding	Pathogenic
14	64785551	G	A	G64785551A	SPTB	NM_001355436.2(SPTB):c.3841C>T:p.Gln1281Ter	coding	Pathogenic
14	64786574	G	A	G64786574A	SPTB	NM_001355436.2(SPTB):c.3391C>T:p.Gln1131Ter	coding	Pathogenic
14	64786614	G	T	G64786614T	SPTB	NM_001355436.2(SPTB):c.3351C>A:p.Tyr1117Ter	coding	Pathogenic
14	64793004	G	A	G64793004A	SPTB	NM_001355436.2(SPTB):c.2659C>T:p.Gln887Ter	coding	Pathogenic
14	64793142	G	A	G64793142A	SPTB	NM_001355436.2(SPTB):c.2521C>T:p.Gln841Ter	coding	Pathogenic
14	64793385	G	A	G64793385A	SPTB	NM_001355436.2(SPTB):c.2278C>T:p.Gln760Ter	coding	Pathogenic
14	64793389	C	T	C64793389T	SPTB	NM_001355436.2(SPTB):c.2274G>A:p.Trp758Ter	coding	Pathogenic
14	64793424	G	A	G64793424A	SPTB	NM_001355436.2(SPTB):c.2239C>T:p.Gln747Ter	coding	Pathogenic
14	64793498	G	T	G64793498T	SPTB	NM_001355436.2(SPTB):c.2165C>A:p.Ser722Ter	coding	Pathogenic
14	64793603	C	T	C64793603T	SPTB	NM_001355436.2(SPTB):c.2060G>A:p.Arg687His	coding	Benign/Likely_benign
14	64793730	C	A	C64793730A	SPTB	NM_001355436.2(SPTB):c.1933G>T:p.Glu645Ter	coding	Pathogenic
14	64793751	G	A	G64793751A	SPTB	NM_001355436.2(SPTB):c.1912C>T:p.Arg638Ter	coding	Pathogenic
14	64794466	C	T	C64794466T	SPTB	NM_001355436.2(SPTB):c.1795+1G>A	noncoding	Pathogenic/Likely_pathogenic
14	64794555	C	T	C64794555T	SPTB	NM_001355436.2(SPTB):c.1707G>A:p.Lys569=	coding	Benign/Likely_benign
14	64795390	G	A	G64795390A	SPTB	NM_001355436.2(SPTB):c.1591C>T:p.Gln531Ter	coding	Pathogenic
14	64795451	C	T	C64795451T	SPTB	NM_001355436.2(SPTB):c.1530G>A:p.Trp510Ter	coding	Pathogenic
14	64795707	C	A	C64795707A	SPTB	NM_001355436.2(SPTB):c.1342-68G>T	noncoding	Benign
14	64796285	G	C	G64796285C	SPTB	NM_001355436.2(SPTB):c.1341+272C>G	noncoding	Benign
14	64796649	G	A	G64796649A	SPTB	NM_001355436.2(SPTB):c.1249C>T:p.Gln417Ter	coding	Pathogenic
14	64799787	G	A	G64799787A	SPTB	NM_001355436.2(SPTB):c.1024C>T:p.Gln342Ter	coding	Pathogenic
14	64801449	C	T	C64801449T	SPTB	NM_001355436.2(SPTB):c.648-49G>A	noncoding	Benign
14	64802000	A	G	A64802000G	SPTB	NM_001355436.2(SPTB):c.567-166T>C	noncoding	Benign
14	64802299	G	A	G64802299A	SPTB	NM_001355436.2(SPTB):c.493C>T:p.Gln165Ter	coding	Pathogenic
14	64802593	A	G	A64802593G	SPTB	NM_001355436.2(SPTB):c.475-276T>C	noncoding	Benign
14	64803306	A	G	A64803306G	SPTB	NM_001355436.2(SPTB):c.474+301T>C	noncoding	Benign
14	64803609	G	A	G64803609A	SPTB	NM_001355436.2(SPTB):c.472C>T:p.Gln158Ter	coding	Pathogenic
14	64803614	C	G	C64803614G	SPTB	NM_001355436.2(SPTB):c.467G>C:p.Arg156Pro	coding	Pathogenic
14	64803798	C	T	C64803798T	SPTB	NM_001355436.2(SPTB):c.301-18G>A	noncoding	Benign
14	64804684	C	T	C64804684T	SPTB	NM_001355436.2(SPTB):c.300+255G>A	noncoding	Benign
14	64804916	G	A	G64804916A	SPTB	NM_001355436.2(SPTB):c.300+23C>T	noncoding	Benign
14	64805031	G	A	G64805031A	SPTB	NM_001355436.2(SPTB):c.208C>T:p.Arg70Ter	coding	Pathogenic/Likely_pathogenic
14	64805056	C	T	C64805056T	SPTB	NM_001355436.2(SPTB):c.183G>A:p.Thr61=	coding	Benign
14	64805088	C	A	C64805088A	SPTB	NM_001355436.2(SPTB):c.151G>T:p.Glu51Ter	coding	Pathogenic
14	64822993	G	A	G64822993A	SPTB	NM_001355436.2(SPTB):c.102C>T:p.Asn34=	coding	Benign
14	64823010	C	A	C64823010A	SPTB	NM_001355436.2(SPTB):c.85G>T:p.Glu29Ter	coding	Pathogenic
14	64823248	A	G	A64823248G	SPTB	NM_001355436.2(SPTB):c.-51-103T>C	noncoding	Benign
14	64823260	A	G	A64823260G	SPTB	NM_001355436.2(SPTB):c.-51-115T>C	noncoding	Benign
14	65006478	G	A	G65006478A	MAX	NM_002028.4(FNTB):c.209+2165G>A	noncoding	Benign
14	65077649	C	A	C65077649A	MAX	NM_002382.5(MAX):c.295+264G>T	noncoding	Benign
14	65077937	G	A	G65077937A	MAX	NM_002382.5(MAX):c.271C>T:p.Gln91Ter	coding	Pathogenic
14	65077964	G	A	G65077964A	MAX	NM_002382.5(MAX):c.244C>T:p.Gln82Ter	coding	Pathogenic
14	65078008	G	T	G65078008T	MAX	NM_002382.5(MAX):c.200C>A:p.Ala67Asp	coding	Pathogenic
14	65078038	T	C	T65078038C	MAX	NM_002382.5(MAX):c.172-2A>G	noncoding	Pathogenic
14	65084098	T	A	T65084098A	MAX	NM_002382.5(MAX):c.172-6062A>T	coding	Benign
14	65084148	A	T	A65084148T	MAX	NM_002382.5(MAX):c.172-6112T>A	coding	Benign
14	65093477	A	T	A65093477T	MAX	NM_002382.5(MAX):c.171+231T>A	noncoding	Benign
14	65093817	T	C	T65093817C	MAX	NM_002382.5(MAX):c.64-2A>G	coding	Pathogenic
14	65101497	G	A	G65101497A	MAX	NM_002382.5(MAX):c.63+49C>T	noncoding	Benign
14	65101554	G	A	G65101554A	MAX	NM_002382.5(MAX):c.55C>T:p.Gln19Ter	coding	Pathogenic
14	65101845	C	T	C65101845T	MAX	NM_002382.5(MAX):c.37-273G>A	noncoding	Benign
14	65561787	T	C	T65561787C	FUT8	NM_001371533.1(FUT8):c.203+21T>C	noncoding	Benign
14	65615775	C	T	C65615775T	FUT8	NM_001371533.1(FUT8):c.204-203C>T	noncoding	Benign
14	65615777	A	G	A65615777G	FUT8	NM_001371533.1(FUT8):c.204-201A>G	noncoding	Benign
14	65615855	A	G	A65615855G	FUT8	NM_001371533.1(FUT8):c.204-123A>G	noncoding	Benign
14	65616061	A	G	A65616061G	FUT8	NM_001371533.1(FUT8):c.287A>G:p.Gln96Arg	coding	Benign
14	65616075	A	C	A65616075C	FUT8	NM_001371533.1(FUT8):c.301A>C:p.Lys101Gln	coding	Benign
14	65616452	A	G	A65616452G	FUT8	NM_001371533.1(FUT8):c.482+79A>G	noncoding	Benign
14	65616485	A	G	A65616485G	FUT8	NM_001371533.1(FUT8):c.482+112A>G	noncoding	Benign
14	65616496	G	A	G65616496A	FUT8	NM_001371533.1(FUT8):c.482+123G>A	noncoding	Benign
14	65629475	G	A	G65629475A	FUT8	NM_001371533.1(FUT8):c.483-17G>A	noncoding	Benign/Likely_benign
14	65629815	A	G	A65629815G	FUT8	NM_001371533.1(FUT8):c.597+209A>G	noncoding	Benign
14	65669445	C	A	C65669445A	FUT8	NM_001371533.1(FUT8):c.800C>A:p.Thr267Lys	coding	Benign
14	65721491	C	T	C65721491T	FUT8	NM_001371533.1(FUT8):c.836-284C>T	noncoding	Benign
14	65721875	C	T	C65721875T	FUT8	NM_001371533.1(FUT8):c.936C>T:p.Leu312=	coding	Benign
14	65722164	T	A	T65722164A	FUT8	NM_001371533.1(FUT8):c.1082+143T>A	noncoding	Benign
14	65724488	T	C	T65724488C	FUT8	NM_001371533.1(FUT8):c.1259+165T>C	noncoding	Benign
14	65732944	G	A	G65732944A	FUT8	NM_001371533.1(FUT8):c.1260-287G>A	noncoding	Benign
14	65733018	A	G	A65733018G	FUT8	NM_001371533.1(FUT8):c.1260-213A>G	noncoding	Benign
14	65733114	A	C	A65733114C	FUT8	NM_001371533.1(FUT8):c.1260-117A>C	noncoding	Benign
14	65733459	A	G	A65733459G	FUT8	NM_001371533.1(FUT8):c.1410+78A>G	noncoding	Benign
14	65742472	C	G	C65742472G	FUT8	NM_001371533.1(FUT8):c.*62C>G	noncoding	Benign
14	66507125	C	T	C66507125T	GPHN	Single_allele	noncoding	Benign
14	66681275	T	C	T66681275C	GPHN	NM_020806.5(GPHN):c.143+90T>C	noncoding	Benign
14	66681406	C	G	C66681406G	GPHN	NM_020806.5(GPHN):c.143+221C>G	noncoding	Benign
14	66681417	A	T	A66681417T	GPHN	NM_020806.5(GPHN):c.143+232A>T	noncoding	Benign
14	66776779	A	G	A66776779G	GPHN	NM_020806.5(GPHN):c.201+258A>G	noncoding	Benign
14	66824436	A	G	A66824436G	GPHN	NM_020806.5(GPHN):c.202-38A>G	noncoding	Benign
14	66824549	C	T	C66824549T	GPHN	NM_020806.5(GPHN):c.277C>T:p.Arg93Ter	coding	Pathogenic
14	66916321	C	G	C66916321G	GPHN	NM_020806.5(GPHN):c.456+252C>G	noncoding	Benign
14	66964979	A	G	A66964979G	GPHN	NM_020806.5(GPHN):c.829-212A>G	noncoding	Benign
14	67023333	T	C	T67023333C	GPHN	NM_020806.5(GPHN):c.964-300T>C	noncoding	Benign
14	67058979	T	C	T67058979C	GPHN	NM_020806.5(GPHN):c.1144+193T>C	noncoding	Benign
14	67089072	C	T	C67089072T	GPHN	NM_020806.5(GPHN):c.1234C>T:p.Arg412Ter	coding	Pathogenic
14	67089161	A	G	A67089161G	GPHN	NM_020806.5(GPHN):c.1237+86A>G	noncoding	Benign
14	67089293	T	C	T67089293C	GPHN	NM_020806.5(GPHN):c.1237+218T>C	noncoding	Benign
14	67111846	C	T	C67111846T	GPHN	NM_020806.5(GPHN):c.1414-15C>T	noncoding	Benign
14	67112010	A	G	A67112010G	GPHN	NM_020806.5(GPHN):c.1472+91A>G	noncoding	Benign
14	67112138	T	A	T67112138A	GPHN	NM_020806.5(GPHN):c.1472+219T>A	noncoding	Benign
14	67112749	T	G	T67112749G	GPHN	NM_020806.5(GPHN):c.1473-269T>G	noncoding	Benign
14	67122236	G	T	G67122236T	GPHN	NM_020806.5(GPHN):c.1627-20G>T	noncoding	Benign
14	67122710	G	A	G67122710A	GPHN	NM_020806.5(GPHN):c.1748+333G>A	noncoding	Benign
14	67159195	C	T	C67159195T	GPHN	NM_020806.5(GPHN):c.1837-220C>T	noncoding	Benign
14	67164956	A	G	A67164956G	GPHN	NM_020806.5(GPHN):c.1911-206A>G	noncoding	Benign
14	67169092	A	G	A67169092G	GPHN	NM_020806.5(GPHN):c.2079+56A>G	noncoding	Benign
14	67179540	G	T	G67179540T	GPHN	NM_020806.5(GPHN):c.2080-38G>T	noncoding	Benign
14	67179564	A	G	A67179564G	GPHN	NM_020806.5(GPHN):c.2080-14A>G	noncoding	Benign
14	67179564	A	T	A67179564T	GPHN	NM_020806.5(GPHN):c.2080-14A>T	noncoding	Benign
14	67179783	T	C	T67179783C	GPHN	NM_020806.5(GPHN):c.2176+109T>C	noncoding	Benign
14	67180753	C	A	C67180753A	GPHN	NM_020806.5(GPHN):c.2177-51C>A	noncoding	Benign
14	67690392	C	A	C67690392A	RDH11	NM_016026.4(RDH11):c.484G>T:p.Glu162Ter	coding	Pathogenic
14	67690435	C	G	C67690435G	RDH11	NM_016026.4(RDH11):c.455-14G>C	noncoding	Benign
14	67692552	C	T	C67692552T	RDH11	NM_016026.4(RDH11):c.235G>A:p.Glu79Lys	coding	Benign
14	67695610	G	C	G67695610C	RDH11	NM_016026.4(RDH11):c.74+20C>G	noncoding	Benign
14	67722206	A	G	A67722206G	RDH12	NM_152443.3(RDH12):c.-219-218A>G	noncoding	Benign
14	67722711	G	A	G67722711A	RDH12	NM_152443.3(RDH12):c.68+1G>A	coding	Pathogenic
14	67722902	A	C	A67722902C	RDH12	NM_152443.3(RDH12):c.68+192A>C	noncoding	Benign
14	67722918	T	G	T67722918G	RDH12	NM_152443.3(RDH12):c.68+208T>G	noncoding	Benign
14	67724162	G	A	G67724162A	RDH12	NM_152443.3(RDH12):c.69-311G>A	noncoding	Benign
14	67724292	C	T	C67724292T	RDH12	NM_152443.3(RDH12):c.69-181C>T	noncoding	Benign
14	67724398	T	G	T67724398G	RDH12	NM_152443.3(RDH12):c.69-75T>G	noncoding	Benign
14	67724543	G	A	G67724543A	RDH12	NM_152443.3(RDH12):c.139G>A:p.Ala47Thr	coding	Pathogenic/Likely_pathogenic
14	67724645	A	T	A67724645T	RDH12	NM_152443.3(RDH12):c.187+54A>T	noncoding	Benign
14	67724651	G	A	G67724651A	RDH12	NM_152443.3(RDH12):c.187+60G>A	noncoding	Benign
14	67725068	A	G	A67725068G	RDH12	NM_152443.3(RDH12):c.188-31A>G	noncoding	Benign
14	67725104	C	T	C67725104T	RDH12	NM_152443.3(RDH12):c.193C>T:p.Arg65Ter	coding	Pathogenic/Likely_pathogenic
14	67725189	T	C	T67725189C	RDH12	NM_152443.3(RDH12):c.278T>C:p.Leu93Pro	coding	Pathogenic
14	67725936	G	C	G67725936C	RDH12	NM_152443.3(RDH12):c.344-115G>C	noncoding	Benign
14	67726100	T	A	T67726100A	RDH12	NM_152443.3(RDH12):c.393T>A:p.Cys131Ter	coding	Pathogenic
14	67727013	C	T	C67727013T	RDH12	NM_152443.3(RDH12):c.481C>T:p.Arg161Trp	coding	Pathogenic
14	67727133	T	C	T67727133C	RDH12	NM_152443.3(RDH12):c.601T>C:p.Cys201Arg	coding	Pathogenic/Likely_pathogenic
14	67727151	A	G	A67727151G	RDH12	NM_152443.3(RDH12):c.619A>G:p.Asn207Asp	coding	Pathogenic
14	67727376	G	C	G67727376C	RDH12	NM_152443.3(RDH12):c.658+186G>C	noncoding	Benign
14	67727476	G	T	G67727476T	RDH12	NM_152443.3(RDH12):c.658+286G>T	noncoding	Benign
14	67729230	T	A	T67729230A	RDH12	NM_152443.3(RDH12):c.698T>A:p.Val233Asp	coding	Pathogenic
14	67729355	G	T	G67729355T	RDH12	NM_152443.3(RDH12):c.823G>T:p.Glu275Ter	coding	Pathogenic
14	67729394	A	C	A67729394C	RDH12	NM_152443.3(RDH12):c.848+14A>C	noncoding	Benign
14	67733486	G	C	G67733486C	RDH12	NM_152443.3(RDH12):c.849-260G>C	noncoding	Benign
14	67733666	C	A	C67733666A	RDH12	NM_152443.3(RDH12):c.849-80C>A	noncoding	Benign
14	67733763	G	A	G67733763A	RDH12	NM_152443.3(RDH12):c.866G>A:p.Trp289Ter	coding	Pathogenic
14	67750869	C	G	C67750869G	ZFYVE26	NM_015346.4(ZFYVE26):c.7416+183G>C	noncoding	Benign
14	67751007	C	T	C67751007T	ZFYVE26	NM_015346.4(ZFYVE26):c.7416+45G>A	noncoding	Benign
14	67751138	C	T	C67751138T	ZFYVE26	NM_015346.4(ZFYVE26):c.7372-42G>A	noncoding	Benign
14	67752326	G	A	G67752326A	ZFYVE26	NM_015346.4(ZFYVE26):c.7371+18C>T	noncoding	Benign/Likely_benign
14	67752330	G	A	G67752330A	ZFYVE26	NM_015346.4(ZFYVE26):c.7371+14C>T	noncoding	Benign
14	67754069	A	T	A67754069T	ZFYVE26	NM_015346.4(ZFYVE26):c.7128+2T>A	noncoding	Pathogenic/Likely_pathogenic
14	67754158	G	A	G67754158A	ZFYVE26	NM_015346.4(ZFYVE26):c.7041C>T:p.Cys2347=	coding	Benign
14	67754924	C	T	C67754924T	ZFYVE26	NM_015346.4(ZFYVE26):c.6986+127G>A	noncoding	Benign
14	67755959	G	A	G67755959A	ZFYVE26	NM_015346.4(ZFYVE26):c.6775C>T:p.Gln2259Ter	coding	Pathogenic
14	67761474	G	C	G67761474C	ZFYVE26	NM_015346.4(ZFYVE26):c.6480C>G:p.Tyr2160Ter	coding	Pathogenic
14	67762047	C	G	C67762047G	ZFYVE26	NM_015346.4(ZFYVE26):c.6369+156G>C	noncoding	Benign
14	67762073	A	T	A67762073T	ZFYVE26	NM_015346.4(ZFYVE26):c.6369+130T>A	noncoding	Benign
14	67762687	G	T	G67762687T	ZFYVE26	NM_015346.4(ZFYVE26):c.6144C>A:p.Tyr2048Ter	coding	Pathogenic
14	67766050	T	C	T67766050C	ZFYVE26	NM_015346.4(ZFYVE26):c.6011+177A>G	noncoding	Benign
14	67766268	G	A	G67766268A	ZFYVE26	NM_015346.4(ZFYVE26):c.5970C>T:p.Phe1990=	coding	Benign
14	67766381	G	A	G67766381A	ZFYVE26	NM_015346.4(ZFYVE26):c.5857C>T:p.Gln1953Ter	coding	Pathogenic
14	67767784	T	A	T67767784A	ZFYVE26	NM_015346.4(ZFYVE26):c.5710A>T:p.Lys1904Ter	coding	Pathogenic
14	67768501	C	T	C67768501T	ZFYVE26	NM_015346.4(ZFYVE26):c.5653+16G>A	noncoding	Benign/Likely_benign
14	67768586	T	G	T67768586G	ZFYVE26	NM_015346.4(ZFYVE26):c.5622-38A>C	noncoding	Benign
14	67768825	C	T	C67768825T	ZFYVE26	NM_015346.4(ZFYVE26):c.5622-277G>A	noncoding	Benign
14	67769955	G	A	G67769955A	ZFYVE26	NM_015346.4(ZFYVE26):c.5485-225C>T	noncoding	Benign
14	67771970	T	C	T67771970C	ZFYVE26	NM_015346.4(ZFYVE26):c.5484+77A>G	noncoding	Benign
14	67772148	G	A	G67772148A	ZFYVE26	NM_015346.4(ZFYVE26):c.5383C>T:p.Gln1795Ter	coding	Pathogenic
14	67774894	A	G	A67774894G	ZFYVE26	NM_015346.4(ZFYVE26):c.5320+122T>C	noncoding	Benign
14	67776181	G	A	G67776181A	ZFYVE26	NM_015346.4(ZFYVE26):c.4975-75C>T	noncoding	Benign
14	67777485	C	T	C67777485T	ZFYVE26	NM_015346.4(ZFYVE26):c.4974+74G>A	noncoding	Benign
14	67780106	G	A	G67780106A	ZFYVE26	NM_015346.4(ZFYVE26):c.4674+135C>T	noncoding	Benign
14	67780138	T	A	T67780138A	ZFYVE26	NM_015346.4(ZFYVE26):c.4674+103A>T	noncoding	Benign
14	67780159	C	T	C67780159T	ZFYVE26	NM_015346.4(ZFYVE26):c.4674+82G>A	noncoding	Benign
14	67780307	C	T	C67780307T	ZFYVE26	NM_015346.4(ZFYVE26):c.4608G>A:p.Trp1536Ter	coding	Pathogenic
14	67780316	C	T	C67780316T	ZFYVE26	NM_015346.4(ZFYVE26):c.4599G>A:p.Trp1533Ter	coding	Pathogenic
14	67780367	C	T	C67780367T	ZFYVE26	NM_015346.4(ZFYVE26):c.4570-22G>A	noncoding	Benign
14	67780471	G	T	G67780471T	ZFYVE26	NM_015346.4(ZFYVE26):c.4570-126C>A	noncoding	Benign
14	67781564	C	T	C67781564T	ZFYVE26	NM_015346.4(ZFYVE26):c.4373-35G>A	noncoding	Benign
14	67782861	G	A	G67782861A	ZFYVE26	NM_015346.4(ZFYVE26):c.4291C>T:p.Gln1431Ter	coding	Pathogenic
14	67782970	C	T	C67782970T	ZFYVE26	NM_015346.4(ZFYVE26):c.4182G>A:p.Trp1394Ter	coding	Pathogenic
14	67783005	G	A	G67783005A	ZFYVE26	NM_015346.4(ZFYVE26):c.4147C>T:p.Gln1383Ter	coding	Pathogenic
14	67783008	G	A	G67783008A	ZFYVE26	NM_015346.4(ZFYVE26):c.4144C>T:p.Gln1382Ter	coding	Pathogenic
14	67783031	C	T	C67783031T	ZFYVE26	NM_015346.4(ZFYVE26):c.4121G>A:p.Trp1374Ter	coding	Pathogenic
14	67783299	C	A	C67783299A	ZFYVE26	NM_015346.4(ZFYVE26):c.3853G>T:p.Glu1285Ter	coding	Pathogenic
14	67783459	G	T	G67783459T	ZFYVE26	NM_015346.4(ZFYVE26):c.3693C>A:p.Cys1231Ter	coding	Pathogenic
14	67783563	T	A	T67783563A	ZFYVE26	NM_015346.4(ZFYVE26):c.3627-38A>T	noncoding	Benign
14	67783673	T	C	T67783673C	ZFYVE26	NM_015346.4(ZFYVE26):c.3627-148A>G	noncoding	Benign
14	67784048	C	T	C67784048T	ZFYVE26	NM_015346.4(ZFYVE26):c.3626+286G>A	noncoding	Benign
14	67784296	G	A	G67784296A	ZFYVE26	NM_015346.4(ZFYVE26):c.3626+38C>T	noncoding	Benign
14	67784323	G	A	G67784323A	ZFYVE26	NM_015346.4(ZFYVE26):c.3626+11C>T	noncoding	Benign
14	67784350	G	A	G67784350A	ZFYVE26	NM_015346.4(ZFYVE26):c.3610C>T:p.Gln1204Ter	coding	Pathogenic
14	67784836	C	T	C67784836T	ZFYVE26	NM_015346.4(ZFYVE26):c.3523+223G>A	noncoding	Benign
14	67785200	G	A	G67785200A	ZFYVE26	NM_015346.4(ZFYVE26):c.3382C>T:p.Gln1128Ter	coding	Pathogenic/Likely_pathogenic
14	67785233	G	A	G67785233A	ZFYVE26	NM_015346.4(ZFYVE26):c.3349C>T:p.Gln1117Ter	coding	Pathogenic
14	67785242	G	A	G67785242A	ZFYVE26	NM_015346.4(ZFYVE26):c.3340C>T:p.Gln1114Ter	coding	Pathogenic
14	67785387	C	T	C67785387T	ZFYVE26	NM_015346.4(ZFYVE26):c.3305-110G>A	noncoding	Benign
14	67785906	G	A	G67785906A	ZFYVE26	NM_015346.4(ZFYVE26):c.3256C>T:p.Gln1086Ter	coding	Pathogenic
14	67785909	G	A	G67785909A	ZFYVE26	NM_015346.4(ZFYVE26):c.3253C>T:p.Gln1085Ter	coding	Pathogenic
14	67786262	C	A	C67786262A	ZFYVE26	NM_015346.4(ZFYVE26):c.3020-29G>T	noncoding	Benign
14	67790366	T	C	T67790366C	ZFYVE26	NM_015346.4(ZFYVE26):c.2755+206A>G	noncoding	Benign
14	67790534	C	T	C67790534T	ZFYVE26	NM_015346.4(ZFYVE26):c.2755+38G>A	noncoding	Benign
14	67790652	G	C	G67790652C	ZFYVE26	NM_015346.4(ZFYVE26):c.2675C>G:p.Ser892Ter	coding	Pathogenic
14	67790707	G	A	G67790707A	ZFYVE26	NM_015346.4(ZFYVE26):c.2620C>T:p.Gln874Ter	coding	Pathogenic
14	67793657	G	C	G67793657C	ZFYVE26	NM_015346.4(ZFYVE26):c.2504C>G:p.Ser835Ter	coding	Pathogenic
14	67794147	G	A	G67794147A	ZFYVE26	NM_015346.4(ZFYVE26):c.2401+24C>T	noncoding	Benign
14	67794234	G	A	G67794234A	ZFYVE26	NM_015346.4(ZFYVE26):c.2338C>T:p.Arg780Ter	coding	Pathogenic/Likely_pathogenic
14	67794429	T	C	T67794429C	ZFYVE26	NM_015346.4(ZFYVE26):c.2333-190A>G	noncoding	Benign
14	67797733	G	C	G67797733C	ZFYVE26	NM_015346.4(ZFYVE26):c.2271C>G:p.Tyr757Ter	coding	Pathogenic
14	67797750	G	A	G67797750A	ZFYVE26	NM_015346.4(ZFYVE26):c.2254C>T:p.Gln752Ter	coding	Pathogenic/Likely_pathogenic
14	67798259	A	C	A67798259C	ZFYVE26	NM_015346.4(ZFYVE26):c.2003T>G:p.Leu668Ter	coding	Pathogenic
14	67798291	G	C	G67798291C	ZFYVE26	NM_015346.4(ZFYVE26):c.1971C>G:p.Tyr657Ter	coding	Pathogenic
14	67798767	G	A	G67798767A	ZFYVE26	NM_015346.4(ZFYVE26):c.1640-145C>T	noncoding	Benign
14	67798799	A	C	A67798799C	ZFYVE26	NM_015346.4(ZFYVE26):c.1640-177T>G	noncoding	Benign
14	67801840	A	G	A67801840G	ZFYVE26	NM_015346.4(ZFYVE26):c.1639+239T>C	noncoding	Benign
14	67802154	G	A	G67802154A	ZFYVE26	NM_015346.4(ZFYVE26):c.1564C>T:p.Gln522Ter	coding	Pathogenic
14	67806601	T	A	T67806601A	ZFYVE26	NM_015346.4(ZFYVE26):c.961A>T:p.Lys321Ter	coding	Pathogenic
14	67806713	A	G	A67806713G	ZFYVE26	NM_015346.4(ZFYVE26):c.887-38T>C	noncoding	Benign
14	67806862	C	T	C67806862T	ZFYVE26	NM_015346.4(ZFYVE26):c.887-187G>A	noncoding	Benign
14	67807303	C	G	C67807303G	ZFYVE26	NM_015346.4(ZFYVE26):c.886+95G>C	noncoding	Benign
14	67807397	C	G	C67807397G	ZFYVE26	NM_015346.4(ZFYVE26):c.886+1G>C	noncoding	Pathogenic
14	67808016	A	G	A67808016G	ZFYVE26	NM_015346.4(ZFYVE26):c.364-96T>C	noncoding	Benign
14	67809048	T	C	T67809048C	ZFYVE26	NM_015346.4(ZFYVE26):c.363+152A>G	noncoding	Benign
14	67809199	C	T	C67809199T	ZFYVE26	NM_015346.4(ZFYVE26):c.363+1G>A	noncoding	Pathogenic/Likely_pathogenic
14	67809409	T	A	T67809409A	ZFYVE26	NM_015346.4(ZFYVE26):c.274-120A>T	noncoding	Benign
14	67809410	T	A	T67809410A	ZFYVE26	NM_015346.4(ZFYVE26):c.274-121A>T	noncoding	Benign
14	67809411	T	A	T67809411A	ZFYVE26	NM_015346.4(ZFYVE26):c.274-122A>T	noncoding	Benign
14	67813973	T	C	T67813973C	ZFYVE26	NM_015346.4(ZFYVE26):c.273+13A>G	noncoding	Benign/Likely_benign
14	67814131	A	C	A67814131C	ZFYVE26	NM_015346.4(ZFYVE26):c.195-67T>G	noncoding	Benign
14	67814228	T	C	T67814228C	ZFYVE26	NM_015346.4(ZFYVE26):c.195-164A>G	noncoding	Benign
14	67815852	G	A	G67815852A	ZFYVE26	NM_015346.4(ZFYVE26):c.112C>T:p.Gln38Ter	coding	Pathogenic
14	67815929	G	T	G67815929T	ZFYVE26	NM_015346.4(ZFYVE26):c.35C>A:p.Ser12Ter	coding	Pathogenic
14	67815961	C	A	C67815961A	ZFYVE26	NM_015346.4(ZFYVE26):c.3G>T:p.Met1Ile	coding	Pathogenic
14	67816203	G	A	G67816203A	ZFYVE26	NM_015346.4(ZFYVE26):c.-83-157C>T	noncoding	Benign
14	67816294	T	C	T67816294C	ZFYVE26	NM_015346.4(ZFYVE26):c.-84+240A>G	noncoding	Benign
14	67823652	T	C	T67823652C	RAD51B	NM_133510.4(RAD51B):c.84+25T>C	noncoding	Benign
14	67823655	T	G	T67823655G	RAD51B	NM_133510.4(RAD51B):c.84+28T>G	noncoding	Benign
14	67823709	T	C	T67823709C	RAD51B	NM_133510.4(RAD51B):c.84+82T>C	noncoding	Benign
14	67823747	G	A	G67823747A	RAD51B	NM_133510.4(RAD51B):c.84+120G>A	noncoding	Benign
14	67823803	T	G	T67823803G	RAD51B	NM_133510.4(RAD51B):c.84+176T>G	noncoding	Benign
14	67825181	C	T	C67825181T	RAD51B	NM_133510.4(RAD51B):c.85-283C>T	noncoding	Benign
14	67825190	G	A	G67825190A	RAD51B	NM_133510.4(RAD51B):c.85-274G>A	noncoding	Benign
14	67825246	T	A	T67825246A	RAD51B	NM_133510.4(RAD51B):c.85-218T>A	noncoding	Benign
14	67835047	G	T	G67835047T	RAD51B	NM_133510.4(RAD51B):c.199-33G>T	noncoding	Benign
14	67835059	C	T	C67835059T	RAD51B	NM_133510.4(RAD51B):c.199-21C>T	noncoding	Benign
14	67835410	A	G	A67835410G	RAD51B	NM_133510.4(RAD51B):c.315+214A>G	noncoding	Benign
14	67864720	G	A	G67864720A	RAD51B	NM_133510.4(RAD51B):c.316-283G>A	noncoding	Benign
14	67864958	A	T	A67864958T	RAD51B	NM_133510.4(RAD51B):c.316-45A>T	noncoding	Benign
14	67885606	A	G	A67885606G	RAD51B	NM_133510.4(RAD51B):c.453-263A>G	noncoding	Benign
14	67885843	G	A	G67885843A	RAD51B	NM_133510.4(RAD51B):c.453-26G>A	noncoding	Benign
14	67885931	T	G	T67885931G	RAD51B	NM_133510.4(RAD51B):c.515T>G:p.Leu172Trp	coding	Benign
14	67885939	A	C	A67885939C	RAD51B	NM_133510.4(RAD51B):c.523A>C:p.Ser175Arg	coding	Benign
14	67886188	G	A	G67886188A	RAD51B	NM_133510.4(RAD51B):c.572+200G>A	noncoding	Benign
14	67887196	T	G	T67887196G	RAD51B	NM_133510.4(RAD51B):c.748T>G:p.Ser250Ala	coding	Benign
14	67887435	C	T	C67887435T	RAD51B	NM_133510.4(RAD51B):c.756+231C>T	noncoding	Benign
14	68193464	A	G	A68193464G	RAD51B	NM_133510.4(RAD51B):c.757-98420A>G	noncoding	Benign
14	68193711	T	C	T68193711C	RAD51B	NM_133510.4(RAD51B):c.757-98173T>C	noncoding	Benign
14	68291801	T	C	T68291801C	RAD51B	NM_133510.4(RAD51B):c.757-83T>C	noncoding	Benign
14	68291835	T	C	T68291835C	RAD51B	NM_133510.4(RAD51B):c.757-49T>C	noncoding	Benign
14	68291858	T	C	T68291858C	RAD51B	NM_133510.4(RAD51B):c.757-26T>C	noncoding	Benign
14	68411321	A	G	A68411321G	RAD51B	NM_133510.4(RAD51B):c.854-103A>G	noncoding	Benign
14	68411652	C	A	C68411652A	RAD51B	NM_133510.4(RAD51B):c.957+125C>A	noncoding	Benign
14	68411865	A	G	A68411865G	RAD51B	NM_133510.4(RAD51B):c.957+338A>G	noncoding	Benign
14	68467973	A	G	A68467973G	RAD51B	NM_133510.4(RAD51B):c.958-199A>G	noncoding	Benign
14	68468395	G	A	G68468395A	RAD51B	NM_133510.4(RAD51B):c.1036+145G>A	noncoding	Benign
14	68477356	A	G	A68477356G	RAD51B	NM_133510.4(RAD51B):c.1037-292A>G	noncoding	Benign
14	68477430	T	G	T68477430G	RAD51B	NM_133510.4(RAD51B):c.1037-218T>G	noncoding	Benign
14	68477528	T	C	T68477528C	RAD51B	NM_133510.4(RAD51B):c.1037-120T>C	noncoding	Benign
14	68477747	G	A	G68477747A	RAD51B	NM_133510.4(RAD51B):c.*83G>A	coding	Benign
14	68477906	G	A	G68477906A	RAD51B	NM_133510.4(RAD51B):c.*242G>A	coding	Benign
14	68497029	C	T	C68497029T	RAD51B	NM_002877.6(RAD51B):c.1037-95C>T	noncoding	Benign
14	68512837	A	C	A68512837C	RAD51B	NM_133509.5(RAD51B):c.1036+44587A>C	noncoding	Benign
14	68513079	G	A	G68513079A	RAD51B	NM_133509.5(RAD51B):c.1036+44829G>A	noncoding	Benign
14	68513118	T	C	T68513118C	RAD51B	NM_133509.5(RAD51B):c.1036+44868T>C	noncoding	Benign
14	68513212	A	G	A68513212G	RAD51B	NM_133509.5(RAD51B):c.1036+44962A>G	noncoding	Benign
14	68567965	C	T	C68567965T	RAD51B	NM_133509.5(RAD51B):c.1037-26520C>T	noncoding	Benign
14	68594542	C	G	C68594542G	RAD51B	NM_133509.5(RAD51B):c.1094C>G:p.Pro365Arg	coding	Benign
14	68594932	C	T	C68594932T	RAD51B	NM_001321809.2(RAD51B):c.1037-7731C>T	noncoding	Benign
14	68874941	G	A	G68874941A	ACTN1	NM_001130004.2(ACTN1):c.2663C>T:p.Pro888Leu	coding	Benign/Likely_benign
14	68875189	G	A	G68875189A	ACTN1	NM_001130004.2(ACTN1):c.2587-172C>T	noncoding	Benign
14	68875195	A	G	A68875195G	ACTN1	NM_001130004.2(ACTN1):c.2587-178T>C	noncoding	Benign
14	68876987	G	A	G68876987A	ACTN1	NM_001130004.2(ACTN1):c.2586+95C>T	noncoding	Benign
14	68878252	G	A	G68878252A	ACTN1	NM_001130004.2(ACTN1):c.2427+206C>T	noncoding	Benign
14	68878930	C	T	C68878930T	ACTN1	NM_001130004.2(ACTN1):c.2361+59G>A	noncoding	Benign
14	68880207	C	T	C68880207T	ACTN1	NM_001130004.2(ACTN1):c.2134-99G>A	noncoding	Benign
14	68880915	C	T	C68880915T	ACTN1	NM_001130004.2(ACTN1):c.2028G>A:p.Lys676=	coding	Benign
14	68881038	C	T	C68881038T	ACTN1	NM_001130004.2(ACTN1):c.1954-49G>A	noncoding	Benign
14	68881235	G	A	G68881235A	ACTN1	NM_001130004.2(ACTN1):c.1954-246C>T	noncoding	Benign
14	68882321	A	G	A68882321G	ACTN1	NM_001130004.2(ACTN1):c.1953+137T>C	noncoding	Benign
14	68882337	T	C	T68882337C	ACTN1	NM_001130004.2(ACTN1):c.1953+121A>G	noncoding	Benign
14	68882344	C	T	C68882344T	ACTN1	NM_001130004.2(ACTN1):c.1953+114G>A	noncoding	Benign
14	68883341	C	G	C68883341G	ACTN1	NM_001130004.2(ACTN1):c.1636-286G>C	noncoding	Benign
14	68884044	G	T	G68884044T	ACTN1	NM_001130004.2(ACTN1):c.1635+124C>A	noncoding	Benign
14	68885462	G	A	G68885462A	ACTN1	NM_001130004.2(ACTN1):c.1348C>T:p.Arg450Cys	coding	Pathogenic/Likely_pathogenic
14	68885513	G	A	G68885513A	ACTN1	NM_001130004.2(ACTN1):c.1297C>T:p.Leu433=	coding	Benign
14	68890458	G	T	G68890458T	ACTN1	NM_001130004.2(ACTN1):c.1087-172C>A	noncoding	Benign
14	68890548	C	T	C68890548T	ACTN1	NM_001130004.2(ACTN1):c.1087-262G>A	noncoding	Benign
14	68891909	G	A	G68891909A	ACTN1	NM_001130004.2(ACTN1):c.1086+144C>T	noncoding	Benign
14	68892480	G	A	G68892480A	ACTN1	NM_001130004.2(ACTN1):c.856-197C>T	noncoding	Benign
14	68893643	G	A	G68893643A	ACTN1	NM_001130004.2(ACTN1):c.855+12C>T	noncoding	Benign
14	68893914	T	C	T68893914C	ACTN1	NM_001130004.2(ACTN1):c.763-167A>G	noncoding	Benign
14	68904438	T	A	T68904438A	ACTN1	NM_001130004.2(ACTN1):c.676+217A>T	noncoding	Benign
14	68904488	C	T	C68904488T	ACTN1	NM_001130004.2(ACTN1):c.676+167G>A	noncoding	Benign
14	68909122	G	T	G68909122T	ACTN1	NM_001130004.2(ACTN1):c.594+196C>A	noncoding	Benign
14	68909448	C	T	C68909448T	ACTN1	NM_001130004.2(ACTN1):c.516-52G>A	noncoding	Benign
14	68909482	A	T	A68909482T	ACTN1	NM_001130004.2(ACTN1):c.516-86T>A	noncoding	Benign
14	68909617	T	C	T68909617C	ACTN1	NM_001130004.2(ACTN1):c.516-221A>G	noncoding	Benign
14	68909762	A	G	A68909762G	ACTN1	NM_001130004.2(ACTN1):c.515+193T>C	noncoding	Benign
14	68909906	G	A	G68909906A	ACTN1	NM_001130004.2(ACTN1):c.515+49C>T	noncoding	Benign
14	68909941	A	C	A68909941C	ACTN1	NM_001130004.2(ACTN1):c.515+14T>G	noncoding	Benign
14	68910058	T	C	T68910058C	ACTN1	NM_001130004.2(ACTN1):c.428-16A>G	noncoding	Benign
14	68910093	G	A	G68910093A	ACTN1	NM_001130004.2(ACTN1):c.428-51C>T	noncoding	Benign
14	68910130	T	C	T68910130C	ACTN1	NM_001130004.2(ACTN1):c.428-88A>G	noncoding	Benign
14	68910254	G	A	G68910254A	ACTN1	NM_001130004.2(ACTN1):c.428-212C>T	noncoding	Benign
14	68910266	T	C	T68910266C	ACTN1	NM_001130004.2(ACTN1):c.428-224A>G	noncoding	Benign
14	68911981	C	T	C68911981T	ACTN1	NM_001130004.2(ACTN1):c.427+175G>A	noncoding	Benign
14	68911998	T	C	T68911998C	ACTN1	NM_001130004.2(ACTN1):c.427+158A>G	noncoding	Benign
14	68912146	A	G	A68912146G	ACTN1	NM_001130004.2(ACTN1):c.427+10T>C	noncoding	Benign
14	68912199	C	A	C68912199A	ACTN1	NM_001130004.2(ACTN1):c.384G>T:p.Trp128Cys	coding	Pathogenic
14	68912336	A	G	A68912336G	ACTN1	NM_001130004.2(ACTN1):c.341-94T>C	noncoding	Benign
14	68925342	A	T	A68925342T	ACTN1	NM_001130004.2(ACTN1):c.220+216T>A	noncoding	Benign
14	68925728	G	A	G68925728A	ACTN1	NM_001130004.2(ACTN1):c.106-56C>T	noncoding	Benign
14	68978668	G	T	G68978668T	ACTN1	NM_001130004.2(ACTN1):c.105+284C>A	noncoding	Benign
14	68978929	A	G	A68978929G	ACTN1	NM_001130004.2(ACTN1):c.105+23T>C	noncoding	Benign
14	68978934	G	A	G68978934A	ACTN1	NM_001130004.2(ACTN1):c.105+18C>T	noncoding	Benign
14	68979396	C	A	C68979396A	ACTN1	Single_allele	noncoding	Benign
14	69879262	T	A	T69879262A	SMOC1	Single_allele	noncoding	Benign
14	69879273	T	A	T69879273A	SMOC1	Single_allele	noncoding	Benign
14	69879633	G	A	G69879633A	SMOC1	NM_001034852.3(SMOC1):c.-46G>A	noncoding	Benign
14	69952081	G	A	G69952081A	SMOC1	NM_001034852.3(SMOC1):c.100-57G>A	noncoding	Benign
14	69975633	A	G	A69975633G	SMOC1	NM_001034852.3(SMOC1):c.379-82A>G	noncoding	Benign
14	69975831	C	T	C69975831T	SMOC1	NM_001034852.3(SMOC1):c.478+17C>T	noncoding	Benign
14	69977831	A	G	A69977831G	SMOC1	NM_001034852.3(SMOC1):c.479-87A>G	noncoding	Benign
14	69977905	C	A	C69977905A	SMOC1	NM_001034852.3(SMOC1):c.479-13C>A	noncoding	Benign
14	69977921	C	A	C69977921A	SMOC1	NM_001034852.3(SMOC1):c.482C>A:p.Ser161Ter	coding	Pathogenic
14	69992653	T	C	T69992653C	SMOC1	NM_001034852.3(SMOC1):c.583+180T>C	noncoding	Benign
14	70011069	A	G	A70011069G	SMOC1	NM_001034852.3(SMOC1):c.857+123A>G	noncoding	Benign
14	70013564	G	A	G70013564A	SMOC1	NM_001034852.3(SMOC1):c.1046+73G>A	noncoding	Benign
14	70013585	G	C	G70013585C	SMOC1	NM_001034852.3(SMOC1):c.1046+94G>C	noncoding	Benign
14	70022963	T	G	T70022963G	SMOC1	NM_001034852.3(SMOC1):c.1047-240T>G	noncoding	Benign
14	70023058	C	G	C70023058G	SMOC1	NM_001034852.3(SMOC1):c.1047-145C>G	noncoding	Benign
14	70023547	A	G	A70023547G	SMOC1	NM_001034852.3(SMOC1):c.1291+100A>G	noncoding	Benign
14	70023655	A	C	A70023655C	SMOC1	NM_001034852.3(SMOC1):c.1291+208A>C	noncoding	Benign
14	70030150	C	T	C70030150T	SMOC1	NM_001034852.3(SMOC1):c.1292-92C>T	noncoding	Benign
14	70030338	A	G	A70030338G	SMOC1	NM_001034852.3(SMOC1):c.*80A>G	noncoding	Benign
14	70326410	G	A	G70326410A	COX16	NM_016468.7(COX16):c.244C>T:p.Arg82Ter	coding	Pathogenic
14	71588751	A	C	A71588751C	SIPA1L1	NM_001386936.1(SIPA1L1):c.879A>C:p.Ser293=	coding	Benign
14	71964738	C	T	C71964738T	RGS6	NM_001204424.2(RGS6):c.-20-34C>T	noncoding	Benign
14	71964747	A	G	A71964747G	RGS6	NM_001204424.2(RGS6):c.-20-25A>G	noncoding	Benign
14	72454709	C	G	C72454709G	RGS6	NM_001204424.2(RGS6):c.235+131C>G	noncoding	Benign
14	72458463	G	C	G72458463C	RGS6	NM_001204424.2(RGS6):c.342+86G>C	noncoding	Benign
14	72459378	T	A	T72459378A	RGS6	NM_001204424.2(RGS6):c.343-254T>A	noncoding	Benign
14	72459433	C	G	C72459433G	RGS6	NM_001204424.2(RGS6):c.343-199C>G	noncoding	Benign
14	72459457	A	G	A72459457G	RGS6	NM_001204424.2(RGS6):c.343-175A>G	noncoding	Benign
14	72465594	A	T	A72465594T	RGS6	NM_001204424.2(RGS6):c.395-164A>T	noncoding	Benign
14	72465598	A	G	A72465598G	RGS6	NM_001204424.2(RGS6):c.395-160A>G	noncoding	Benign
14	72465602	T	A	T72465602A	RGS6	NM_001204424.2(RGS6):c.395-156T>A	noncoding	Benign
14	72465608	G	A	G72465608A	RGS6	NM_001204424.2(RGS6):c.395-150G>A	noncoding	Benign
14	72465681	G	T	G72465681T	RGS6	NM_001204424.2(RGS6):c.395-77G>T	noncoding	Benign
14	72465855	G	A	G72465855A	RGS6	NM_001204424.2(RGS6):c.459+33G>A	noncoding	Benign
14	72466101	A	G	A72466101G	RGS6	NM_001204424.2(RGS6):c.459+279A>G	noncoding	Benign
14	72470100	G	A	G72470100A	RGS6	NM_001204424.2(RGS6):c.536+17G>A	noncoding	Benign/Likely_benign
14	72470246	T	C	T72470246C	RGS6	NM_001204424.2(RGS6):c.536+163T>C	noncoding	Benign
14	72472787	C	A	C72472787A	RGS6	NM_001204424.2(RGS6):c.537-85C>A	noncoding	Benign
14	72473027	C	T	C72473027T	RGS6	NM_001204424.2(RGS6):c.618+74C>T	noncoding	Benign
14	72474499	G	A	G72474499A	RGS6	NM_001204424.2(RGS6):c.619-126G>A	noncoding	Benign
14	72476468	T	C	T72476468C	RGS6	NM_001204424.2(RGS6):c.694-274T>C	noncoding	Benign
14	72477044	C	T	C72477044T	RGS6	NM_001204424.2(RGS6):c.792+204C>T	noncoding	Benign
14	72478235	T	G	T72478235G	RGS6	NM_001204424.2(RGS6):c.793-33T>G	noncoding	Benign
14	72494890	T	C	T72494890C	RGS6	NM_001204424.2(RGS6):c.855-262T>C	noncoding	Benign
14	72509877	T	C	T72509877C	RGS6	NM_001204424.2(RGS6):c.966-277T>C	noncoding	Benign
14	72509907	T	C	T72509907C	RGS6	NM_001204424.2(RGS6):c.966-247T>C	noncoding	Benign
14	72509922	G	A	G72509922A	RGS6	NM_001204424.2(RGS6):c.966-232G>A	noncoding	Benign
14	72510144	C	T	C72510144T	RGS6	NM_001204424.2(RGS6):c.966-10C>T	noncoding	Benign
14	72510349	C	G	C72510349G	RGS6	NM_001204424.2(RGS6):c.1091+70C>G	noncoding	Benign
14	72510373	A	C	A72510373C	RGS6	NM_001204424.2(RGS6):c.1091+94A>C	noncoding	Benign
14	72510376	A	G	A72510376G	RGS6	NM_001204424.2(RGS6):c.1091+97A>G	noncoding	Benign
14	72510446	C	T	C72510446T	RGS6	NM_001204424.2(RGS6):c.1091+167C>T	noncoding	Benign
14	72510481	G	A	G72510481A	RGS6	NM_001204424.2(RGS6):c.1091+202G>A	noncoding	Benign
14	72510491	G	A	G72510491A	RGS6	NM_001204424.2(RGS6):c.1091+212G>A	noncoding	Benign
14	72518171	A	G	A72518171G	RGS6	NM_001204424.2(RGS6):c.1092-180A>G	noncoding	Benign
14	72518688	C	T	C72518688T	RGS6	NM_001204424.2(RGS6):c.1278+151C>T	noncoding	Benign
14	72536295	G	C	G72536295C	RGS6	NM_001204424.2(RGS6):c.1368+20G>C	noncoding	Benign/Likely_benign
14	72536407	G	T	G72536407T	RGS6	NM_001204424.2(RGS6):c.1368+132G>T	noncoding	Benign
14	72536472	G	A	G72536472A	RGS6	NM_001204424.2(RGS6):c.1368+197G>A	noncoding	Benign
14	72539790	G	C	G72539790C	RGS6	NM_001204424.2(RGS6):c.1369-251G>C	noncoding	Benign
14	72539871	A	G	A72539871G	RGS6	NM_001204424.2(RGS6):c.1369-170A>G	noncoding	Benign
14	72562470	G	A	G72562470A	RGS6	NM_001204424.2(RGS6):c.*3G>A	coding	Benign
14	72562901	C	T	C72562901T	RGS6	NM_001204424.2(RGS6):c.*434C>T	noncoding	Benign
14	72562999	T	C	T72562999C	RGS6	NM_001204424.2(RGS6):c.*532T>C	noncoding	Benign
14	72753312	A	G	A72753312G	DPF3	NM_001280542.3(DPF3):c.253T>C:p.Leu85=	coding	Benign
14	73148358	G	A	G73148358A	PSEN1	NM_000021.4(PSEN1):c.87+252G>A	noncoding	Benign
14	73170805	T	C	T73170805C	PSEN1	NM_000021.4(PSEN1):c.96T>C:p.Asn32=	coding	Benign
14	73170847	C	T	C73170847T	PSEN1	NM_000021.4(PSEN1):c.138C>T:p.His46=	coding	Benign
14	73171253	T	C	T73171253C	PSEN1	NM_000021.4(PSEN1):c.338+206T>C	noncoding	Benign
14	73173643	T	C	T73173643C	PSEN1	NM_000021.4(PSEN1):c.416T>C:p.Met139Thr	coding	Pathogenic
14	73192647	A	C	A73192647C	PSEN1	NM_000021.4(PSEN1):c.552A>C:p.Glu184Asp	coding	Pathogenic
14	73192720	G	C	G73192720C	PSEN1	NM_000021.4(PSEN1):c.625G>C:p.Gly209Arg	coding	Pathogenic
14	73192735	C	A	C73192735A	PSEN1	NM_000021.4(PSEN1):c.640C>A:p.His214Asn	coding	Pathogenic
14	73192751	T	C	T73192751C	PSEN1	NM_000021.4(PSEN1):c.656T>C:p.Leu219Pro	coding	Pathogenic
14	73192845	G	T	G73192845T	PSEN1	NM_000021.4(PSEN1):c.750G>T:p.Leu250Phe	coding	Pathogenic
14	73198010	T	C	T73198010C	PSEN1	NM_000021.4(PSEN1):c.770-21T>C	noncoding	Benign
14	73198060	C	A	C73198060A	PSEN1	NM_000021.4(PSEN1):c.799C>A:p.Pro267Thr	coding	Pathogenic
14	73198099	G	A	G73198099A	PSEN1	NM_000021.4(PSEN1):c.838G>A:p.Glu280Lys	coding	Pathogenic
14	73198104	G	C	G73198104C	PSEN1	NM_000021.4(PSEN1):c.843G>C:p.Thr281=	coding	Benign
14	73198115	C	T	C73198115T	PSEN1	NM_000021.4(PSEN1):c.854C>T:p.Ala285Val	coding	Pathogenic
14	73206123	C	A	C73206123A	PSEN1	NM_000021.4(PSEN1):c.869-263C>A	noncoding	Benign
14	73206385	G	T	G73206385T	PSEN1	NM_000021.4(PSEN1):c.869-1G>T	noncoding	Pathogenic
14	73206672	T	C	T73206672C	PSEN1	NM_000021.4(PSEN1):c.955+200T>C	noncoding	Benign
14	73211505	G	A	G73211505A	PSEN1	NM_000021.4(PSEN1):c.956-264G>A	noncoding	Benign
14	73211942	A	T	A73211942T	PSEN1	NM_000021.4(PSEN1):c.1129A>T:p.Arg377Trp	coding	Pathogenic
14	73212093	T	C	T73212093C	PSEN1	NM_000021.4(PSEN1):c.1129+151T>C	noncoding	Benign
14	73216933	G	T	G73216933T	PSEN1	NM_000021.4(PSEN1):c.1130-193G>T	noncoding	Benign
14	73217147	G	C	G73217147C	PSEN1	NM_000021.4(PSEN1):c.1151G>C:p.Gly384Ala	coding	Pathogenic
14	73217243	T	C	T73217243C	PSEN1	NM_000021.4(PSEN1):c.1247T>C:p.Ile416Thr	coding	Pathogenic
14	73644885	C	T	C73644885T	DNAL1	NM_031427.3(DNAL1):c.-155C>T	noncoding	Benign
14	73655011	T	C	T73655011C	DNAL1	NM_031427.4(DNAL1):c.42+126T>C	noncoding	Benign
14	73655058	T	G	T73655058G	DNAL1	NM_031427.4(DNAL1):c.42+173T>G	noncoding	Benign
14	73658731	G	A	G73658731A	DNAL1	NM_031427.4(DNAL1):c.43-116G>A	noncoding	Benign
14	73662242	A	G	A73662242G	DNAL1	NM_031427.4(DNAL1):c.208+200A>G	noncoding	Benign
14	73671687	A	G	A73671687G	DNAL1	NM_031427.4(DNAL1):c.264+90A>G	noncoding	Benign
14	73671739	A	G	A73671739G	DNAL1	NM_031427.4(DNAL1):c.264+142A>G	noncoding	Benign
14	73687451	A	G	A73687451G	DNAL1	NM_031427.4(DNAL1):c.391+66A>G	noncoding	Benign
14	73689542	A	G	A73689542G	DNAL1	NM_031427.4(DNAL1):c.532+27A>G	noncoding	Benign
14	73689613	C	T	C73689613T	DNAL1	NM_031427.4(DNAL1):c.532+98C>T	noncoding	Benign
14	73696142	C	G	C73696142G	DNAL1	NM_031427.4(DNAL1):c.*200C>G	noncoding	Benign
14	73696147	T	C	T73696147C	DNAL1	NM_031427.4(DNAL1):c.*205T>C	noncoding	Benign
14	73949897	T	C	T73949897C	COQ6	NM_152445.3(FAM161B):c.54+76A>G	noncoding	Benign
14	73949943	T	G	T73949943G	COQ6	NM_152445.3(FAM161B):c.54+30A>C	coding	Benign
14	73949962	T	C	T73949962C	COQ6	NM_152445.3(FAM161B):c.54+11A>G	coding	Benign
14	73949995	C	G	C73949995G	COQ6	NM_152445.3(FAM161B):c.32G>C:p.Gly11Ala	coding	Benign
14	73950234	G	C	G73950234C	COQ6	NM_152445.2(FAM161B):c.-19C>G	coding	Benign
14	73950242	G	C	G73950242C	COQ6	NM_152445.2(FAM161B):c.-27C>G	coding	Benign
14	73953406	T	G	T73953406G	COQ6	NM_182476.3(COQ6):c.164-29T>G	noncoding	Benign
14	73953451	T	C	T73953451C	COQ6	NM_182476.3(COQ6):c.180T>C:p.Phe60=	coding	Benign
14	73955626	G	C	G73955626C	COQ6	NM_182476.3(COQ6):c.357+117G>C	noncoding	Benign
14	73955683	C	T	C73955683T	COQ6	NM_182476.3(COQ6):c.358-122C>T	noncoding	Benign
14	73955813	C	T	C73955813T	COQ6	NM_182476.3(COQ6):c.366C>T:p.Asp122_Ala123=	coding	Benign
14	73956100	G	A	G73956100A	COQ6	NM_182476.3(COQ6):c.481+172G>A	noncoding	Benign
14	73957841	G	A	G73957841A	COQ6	NM_182476.3(COQ6):c.482-306G>A	noncoding	Benign
14	73958353	C	A	C73958353A	COQ6	NM_182476.3(COQ6):c.612+76C>A	noncoding	Benign
14	73959044	A	C	A73959044C	COQ6	NM_182476.3(COQ6):c.686A>C:p.Gln229Pro	coding	Pathogenic
14	73959611	A	G	A73959611G	COQ6	NM_182476.3(COQ6):c.891+89A>G	noncoding	Benign
14	73961308	C	T	C73961308T	COQ6	NM_182476.3(COQ6):c.1027C>T:p.Arg343Ter	coding	Pathogenic
14	73961635	C	T	C73961635T	COQ6	NM_182476.3(COQ6):c.1210+65C>T	noncoding	Benign
14	73963027	T	C	T73963027C	COQ6	NM_182476.3(COQ6):c.*28T>C	noncoding	Benign
14	73963145	G	C	G73963145C	COQ6	NM_182476.3(COQ6):c.*146G>C	noncoding	Benign
14	73963280	C	T	C73963280T	COQ6	NM_182476.3(COQ6):c.*281C>T	noncoding	Benign
14	74071987	C	T	C74071987T	ALDH6A1	NM_005589.4(ALDH6A1):c.349-13G>A	noncoding	Benign/Likely_benign
14	74071992	A	G	A74071992G	ALDH6A1	NM_005589.4(ALDH6A1):c.349-18T>C	noncoding	Benign
14	74239648	C	A	C74239648A	VSX2	NM_182894.3(VSX2):c.87C>A:p.Cys29Ter	coding	Pathogenic
14	74241181	G	A	G74241181A	VSX2	NM_182894.3(VSX2):c.371-1G>A	noncoding	Pathogenic
14	74241441	G	C	G74241441C	VSX2	NM_182894.3(VSX2):c.455+175G>C	noncoding	Benign
14	74241482	C	T	C74241482T	VSX2	NM_182894.3(VSX2):c.455+216C>T	noncoding	Benign
14	74244923	T	A	T74244923A	VSX2	NM_182894.3(VSX2):c.456-242T>A	noncoding	Benign
14	74244925	T	A	T74244925A	VSX2	NM_182894.3(VSX2):c.456-240T>A	noncoding	Benign
14	74244927	T	A	T74244927A	VSX2	NM_182894.3(VSX2):c.456-238T>A	noncoding	Benign
14	74244932	A	G	A74244932G	VSX2	NM_182894.3(VSX2):c.456-233A>G	noncoding	Benign
14	74244944	A	G	A74244944G	VSX2	NM_182894.3(VSX2):c.456-221A>G	noncoding	Benign
14	74244981	T	A	T74244981A	VSX2	NM_182894.3(VSX2):c.456-184T>A	noncoding	Benign
14	74244983	A	T	A74244983T	VSX2	NM_182894.3(VSX2):c.456-182A>T	noncoding	Benign
14	74245002	G	C	G74245002C	VSX2	NM_182894.3(VSX2):c.456-163G>C	noncoding	Benign
14	74245008	C	G	C74245008G	VSX2	NM_182894.3(VSX2):c.456-157C>G	noncoding	Benign
14	74245564	G	A	G74245564A	VSX2	NM_182894.3(VSX2):c.579+276G>A	noncoding	Benign
14	74259606	G	A	G74259606A	VSX2	NM_182894.3(VSX2):c.584G>A:p.Trp195Ter	coding	Pathogenic
14	74259611	C	T	C74259611T	VSX2	NM_182894.3(VSX2):c.589C>T:p.Gln197Ter	coding	Pathogenic
14	74259620	C	T	C74259620T	VSX2	NM_182894.3(VSX2):c.598C>T:p.Arg200Ter	coding	Pathogenic
14	74259630	G	A	G74259630A	VSX2	NM_182894.3(VSX2):c.608G>A:p.Trp203Ter	coding	Pathogenic
14	74259868	G	A	G74259868A	VSX2	NM_182894.3(VSX2):c.760+86G>A	noncoding	Benign
14	74259931	C	T	C74259931T	VSX2	NM_182894.3(VSX2):c.760+149C>T	noncoding	Benign
14	74259991	A	C	A74259991C	VSX2	NM_182894.3(VSX2):c.760+209A>C	noncoding	Benign
14	74260007	A	G	A74260007G	VSX2	NM_182894.3(VSX2):c.760+225A>G	noncoding	Benign
14	74286199	A	C	A74286199C	ABCD4	NM_005050.4(ABCD4):c.*262T>G	noncoding	Benign
14	74286273	G	A	G74286273A	ABCD4	NM_005050.4(ABCD4):c.*188C>T	noncoding	Benign
14	74286341	T	C	T74286341C	ABCD4	NM_005050.4(ABCD4):c.*120A>G	noncoding	Benign
14	74286404	C	G	C74286404G	ABCD4	NM_005050.4(ABCD4):c.*57G>C	noncoding	Benign
14	74286409	C	T	C74286409T	ABCD4	NM_005050.4(ABCD4):c.*52G>A	noncoding	Benign
14	74286438	C	T	C74286438T	ABCD4	NM_005050.4(ABCD4):c.*23G>A	noncoding	Benign
14	74286575	T	C	T74286575C	ABCD4	NM_005050.4(ABCD4):c.1753-46A>G	noncoding	Benign
14	74286660	G	A	G74286660A	ABCD4	NM_005050.4(ABCD4):c.1752+41C>T	noncoding	Benign
14	74286864	C	T	C74286864T	ABCD4	NM_005050.4(ABCD4):c.1637-48G>A	noncoding	Benign
14	74287003	A	C	A74287003C	ABCD4	NM_005050.4(ABCD4):c.1637-187T>G	noncoding	Benign
14	74288054	A	G	A74288054G	ABCD4	NM_005050.4(ABCD4):c.1559+153T>C	noncoding	Benign
14	74288270	C	G	C74288270G	ABCD4	NM_005050.4(ABCD4):c.1507-11G>C	noncoding	Benign
14	74288929	T	C	T74288929C	ABCD4	NM_005050.4(ABCD4):c.1457-164A>G	noncoding	Benign
14	74288938	G	C	G74288938C	ABCD4	NM_005050.4(ABCD4):c.1457-173C>G	noncoding	Benign
14	74288973	A	G	A74288973G	ABCD4	NM_005050.4(ABCD4):c.1457-208T>C	noncoding	Benign
14	74288974	A	T	A74288974T	ABCD4	NM_005050.4(ABCD4):c.1457-209T>A	noncoding	Benign
14	74289181	T	C	T74289181C	ABCD4	NM_005050.4(ABCD4):c.1456+302A>G	noncoding	Benign
14	74289483	C	A	C74289483A	ABCD4	NM_005050.4(ABCD4):c.1456G>T:p.Gly486Cys	coding	Pathogenic
14	74289545	A	G	A74289545G	ABCD4	NM_005050.4(ABCD4):c.1420-26T>C	noncoding	Benign
14	74289836	A	C	A74289836C	ABCD4	NM_005050.4(ABCD4):c.1419+191T>G	noncoding	Benign
14	74289836	A	G	A74289836G	ABCD4	NM_005050.4(ABCD4):c.1419+191T>C	noncoding	Benign
14	74290006	A	G	A74290006G	ABCD4	NM_005050.4(ABCD4):c.1419+21T>C	noncoding	Benign
14	74290589	G	A	G74290589A	ABCD4	NM_005050.4(ABCD4):c.1119-90C>T	noncoding	Benign
14	74290662	A	G	A74290662G	ABCD4	NM_005050.4(ABCD4):c.1119-163T>C	noncoding	Benign
14	74290671	C	G	C74290671G	ABCD4	NM_005050.4(ABCD4):c.1119-172G>C	noncoding	Benign
14	74292075	G	C	G74292075C	ABCD4	NM_005050.4(ABCD4):c.1118+212C>G	noncoding	Benign
14	74292419	G	A	G74292419A	ABCD4	NM_005050.4(ABCD4):c.1029-43C>T	noncoding	Benign
14	74292472	T	C	T74292472C	ABCD4	NM_005050.4(ABCD4):c.1028+79A>G	noncoding	Benign
14	74292499	G	T	G74292499T	ABCD4	NM_005050.4(ABCD4):c.1028+52C>A	noncoding	Benign
14	74292952	G	A	G74292952A	ABCD4	NM_005050.4(ABCD4):c.815-83C>T	noncoding	Benign
14	74293019	C	T	C74293019T	ABCD4	NM_005050.4(ABCD4):c.814+135G>A	noncoding	Benign
14	74293029	T	C	T74293029C	ABCD4	NM_005050.4(ABCD4):c.814+125A>G	noncoding	Benign
14	74293371	A	C	A74293371C	ABCD4	NM_005050.4(ABCD4):c.720-123T>G	noncoding	Benign
14	74293383	G	C	G74293383C	ABCD4	NM_005050.4(ABCD4):c.720-135C>G	noncoding	Benign
14	74294881	A	G	A74294881G	ABCD4	NM_005050.4(ABCD4):c.719+267T>C	noncoding	Benign
14	74294993	G	A	G74294993A	ABCD4	NM_005050.4(ABCD4):c.719+155C>T	noncoding	Benign
14	74295021	G	A	G74295021A	ABCD4	NM_005050.4(ABCD4):c.719+127C>T	noncoding	Benign
14	74295280	G	C	G74295280C	ABCD4	NM_005050.4(ABCD4):c.669-82C>G	noncoding	Benign
14	74295993	A	G	A74295993G	ABCD4	NM_005050.4(ABCD4):c.543-14T>C	noncoding	Benign/Likely_benign
14	74296067	A	G	A74296067G	ABCD4	NM_005050.4(ABCD4):c.543-88T>C	noncoding	Benign
14	74296095	C	T	C74296095T	ABCD4	NM_005050.4(ABCD4):c.543-116G>A	noncoding	Benign
14	74296153	T	C	T74296153C	ABCD4	NM_005050.4(ABCD4):c.543-174A>G	noncoding	Benign
14	74296668	T	C	T74296668C	ABCD4	NM_005050.4(ABCD4):c.426-219A>G	noncoding	Benign
14	74296751	T	C	T74296751C	ABCD4	NM_005050.4(ABCD4):c.426-302A>G	noncoding	Benign
14	74297882	A	T	A74297882T	ABCD4	NM_005050.4(ABCD4):c.425+48T>A	noncoding	Benign
14	74297932	G	C	G74297932C	ABCD4	NM_005050.4(ABCD4):c.423C>G:p.Asn141Lys	coding	Pathogenic
14	74298211	T	G	T74298211G	ABCD4	NM_005050.4(ABCD4):c.286-142A>C	noncoding	Benign
14	74298223	G	A	G74298223A	ABCD4	NM_005050.4(ABCD4):c.286-154C>T	noncoding	Benign
14	74299258	T	C	T74299258C	ABCD4	NM_005050.4(ABCD4):c.285+290A>G	noncoding	Benign
14	74299377	T	C	T74299377C	ABCD4	NM_005050.4(ABCD4):c.285+171A>G	noncoding	Benign
14	74299386	C	T	C74299386T	ABCD4	NM_005050.4(ABCD4):c.285+162G>A	noncoding	Benign
14	74299985	C	T	C74299985T	ABCD4	NM_005050.4(ABCD4):c.157+165G>A	noncoding	Benign
14	74300425	G	A	G74300425A	ABCD4	NM_005050.4(ABCD4):c.39-157C>T	noncoding	Benign
14	74302599	C	T	C74302599T	ABCD4	NM_005050.4(ABCD4):c.38+276G>A	noncoding	Benign
14	74303138	C	T	C74303138T	ABCD4	Single_allele	noncoding	Benign
14	74303274	G	A	G74303274A	ABCD4	Single_allele	noncoding	Benign
14	74480721	C	T	C74480721T	NPC2	NM_006432.5(NPC2):c.422G>A:p.Trp141Ter	coding	Pathogenic/Likely_pathogenic
14	74484773	A	C	A74484773C	NPC2	NM_006432.5(NPC2):c.191-186T>G	noncoding	Benign
14	74486354	G	C	G74486354C	NPC2	NM_006432.5(NPC2):c.165C>G:p.Tyr55Ter	coding	Pathogenic
14	74486413	C	A	C74486413A	NPC2	NM_006432.5(NPC2):c.106G>T:p.Glu36Ter	coding	Pathogenic
14	74493664	T	C	T74493664C	ISCA2	Single_allele	noncoding	Benign
14	74501045	G	A	G74501045A	LTBP2	NM_000428.3(LTBP2):c.5321-16C>T	noncoding	Benign
14	74501606	C	T	C74501606T	LTBP2	NM_000428.3(LTBP2):c.5171-16G>A	noncoding	Benign
14	74502464	C	T	C74502464T	LTBP2	NM_000428.3(LTBP2):c.5170+189G>A	noncoding	Benign
14	74502565	C	T	C74502565T	LTBP2	NM_000428.3(LTBP2):c.5170+88G>A	noncoding	Benign
14	74502882	G	A	G74502882A	LTBP2	NM_000428.3(LTBP2):c.4941C>T:p.Ala1647=	coding	Benign
14	74504671	C	T	C74504671T	LTBP2	NM_000428.3(LTBP2):c.4453+107G>A	noncoding	Benign
14	74505305	A	T	A74505305T	LTBP2	NM_000428.3(LTBP2):c.4178-131T>A	noncoding	Benign
14	74505398	T	C	T74505398C	LTBP2	NM_000428.3(LTBP2):c.4178-224A>G	noncoding	Benign
14	74506239	G	A	G74506239A	LTBP2	NM_000428.3(LTBP2):c.4034-48C>T	noncoding	Benign
14	74506440	C	T	C74506440T	LTBP2	NM_000428.3(LTBP2):c.4034-249G>A	noncoding	Benign
14	74506874	T	C	T74506874C	LTBP2	NM_000428.3(LTBP2):c.3908-51A>G	noncoding	Benign
14	74506876	T	C	T74506876C	LTBP2	NM_000428.3(LTBP2):c.3908-53A>G	noncoding	Benign
14	74506878	T	C	T74506878C	LTBP2	NM_000428.3(LTBP2):c.3908-55A>G	noncoding	Benign
14	74506880	C	T	C74506880T	LTBP2	NM_000428.3(LTBP2):c.3908-57G>A	noncoding	Benign
14	74507037	A	G	A74507037G	LTBP2	NM_000428.3(LTBP2):c.3907+142T>C	noncoding	Benign
14	74508385	T	C	T74508385C	LTBP2	NM_000428.3(LTBP2):c.3652+219A>G	noncoding	Benign
14	74508750	G	A	G74508750A	LTBP2	NM_000428.3(LTBP2):c.3527-21C>T	noncoding	Benign
14	74508846	A	G	A74508846G	LTBP2	NM_000428.3(LTBP2):c.3510T>C:p.Asn1170=	coding	Benign
14	74509379	G	A	G74509379A	LTBP2	NM_000428.3(LTBP2):c.3278-16C>T	noncoding	Benign/Likely_benign
14	74509979	A	G	A74509979G	LTBP2	NM_000428.3(LTBP2):c.3151+112T>C	noncoding	Benign
14	74510074	C	T	C74510074T	LTBP2	NM_000428.3(LTBP2):c.3151+17G>A	noncoding	Benign
14	74510283	A	G	A74510283G	LTBP2	NM_000428.3(LTBP2):c.3029-70T>C	noncoding	Benign
14	74510932	C	T	C74510932T	LTBP2	NM_000428.3(LTBP2):c.3028+313G>A	noncoding	Benign
14	74511633	G	A	G74511633A	LTBP2	NM_000428.3(LTBP2):c.2909-269C>T	noncoding	Benign
14	74516792	C	G	C74516792G	LTBP2	NM_000428.3(LTBP2):c.2908+30G>C	noncoding	Benign
14	74517138	C	T	C74517138T	LTBP2	NM_000428.3(LTBP2):c.2789-197G>A	noncoding	Benign
14	74522596	G	A	G74522596A	LTBP2	NM_000428.3(LTBP2):c.2659+194C>T	noncoding	Benign
14	74522730	T	C	T74522730C	LTBP2	NM_000428.3(LTBP2):c.2659+60A>G	noncoding	Benign
14	74522760	C	T	C74522760T	LTBP2	NM_000428.3(LTBP2):c.2659+30G>A	noncoding	Benign
14	74525038	T	A	T74525038A	LTBP2	NM_000428.3(LTBP2):c.2530+86A>T	noncoding	Benign
14	74525152	A	G	A74525152G	LTBP2	NM_000428.3(LTBP2):c.2502T>C:p.Thr834=	coding	Benign
14	74525256	T	C	T74525256C	LTBP2	NM_000428.3(LTBP2):c.2429-31A>G	noncoding	Benign
14	74525858	A	T	A74525858T	LTBP2	NM_000428.3(LTBP2):c.2428+217T>A	noncoding	Benign
14	74526158	A	C	A74526158C	LTBP2	NM_000428.3(LTBP2):c.2389-44T>G	noncoding	Benign
14	74526294	A	C	A74526294C	LTBP2	NM_000428.3(LTBP2):c.2389-180T>G	noncoding	Benign
14	74526360	A	G	A74526360G	LTBP2	NM_000428.3(LTBP2):c.2389-246T>C	noncoding	Benign
14	74527498	G	A	G74527498A	LTBP2	NM_000428.3(LTBP2):c.2369-132C>T	noncoding	Benign
14	74528315	G	A	G74528315A	LTBP2	NM_000428.3(LTBP2):c.2368+168C>T	noncoding	Benign
14	74529300	C	T	C74529300T	LTBP2	NM_000428.3(LTBP2):c.1988-178G>A	noncoding	Benign
14	74532172	G	A	G74532172A	LTBP2	NM_000428.3(LTBP2):c.1987+254C>T	noncoding	Benign
14	74532405	C	T	C74532405T	LTBP2	NM_000428.3(LTBP2):c.1987+21G>A	noncoding	Benign
14	74532511	G	A	G74532511A	LTBP2	NM_000428.3(LTBP2):c.1902C>T:p.Asp634=	coding	Benign
14	74532560	G	A	G74532560A	LTBP2	NM_000428.3(LTBP2):c.1865-12C>T	noncoding	Benign
14	74535904	G	T	G74535904T	LTBP2	NM_000428.3(LTBP2):c.1864+22C>A	noncoding	Benign
14	74536017	C	T	C74536017T	LTBP2	NM_000428.3(LTBP2):c.1790-17G>A	noncoding	Benign/Likely_benign
14	74536072	G	A	G74536072A	LTBP2	NM_000428.3(LTBP2):c.1790-72C>T	noncoding	Benign
14	74549779	T	C	T74549779C	LTBP2	NM_000428.3(LTBP2):c.1789+84A>G	noncoding	Benign
14	74549847	G	C	G74549847C	LTBP2	NM_000428.3(LTBP2):c.1789+16C>G	noncoding	Benign
14	74550167	G	A	G74550167A	LTBP2	NM_000428.3(LTBP2):c.1687-202C>T	noncoding	Benign
14	74550216	G	A	G74550216A	LTBP2	NM_000428.3(LTBP2):c.1687-251C>T	noncoding	Benign
14	74550833	T	C	T74550833C	LTBP2	NM_000428.3(LTBP2):c.1686+231A>G	noncoding	Benign
14	74550947	G	C	G74550947C	LTBP2	NM_000428.3(LTBP2):c.1686+117C>G	noncoding	Benign
14	74551383	A	G	A74551383G	LTBP2	NM_000428.3(LTBP2):c.1400-33T>C	noncoding	Benign
14	74552176	C	G	C74552176G	LTBP2	NM_000428.3(LTBP2):c.1399+11G>C	noncoding	Benign
14	74552454	T	C	T74552454C	LTBP2	NM_000428.3(LTBP2):c.1193-61A>G	noncoding	Benign
14	74552602	T	C	T74552602C	LTBP2	NM_000428.3(LTBP2):c.1193-209A>G	noncoding	Benign
14	74552605	A	G	A74552605G	LTBP2	NM_000428.3(LTBP2):c.1193-212T>C	noncoding	Benign
14	74553082	G	A	G74553082A	LTBP2	NM_000428.3(LTBP2):c.1022-20C>T	noncoding	Benign
14	74555249	G	A	G74555249A	LTBP2	NM_000428.3(LTBP2):c.1021+254C>T	noncoding	Benign
14	74555486	A	G	A74555486G	LTBP2	NM_000428.3(LTBP2):c.1021+17T>C	noncoding	Benign
14	74555835	A	G	A74555835G	LTBP2	NM_000428.3(LTBP2):c.831-142T>C	noncoding	Benign
14	74603790	G	C	G74603790C	LTBP2	NM_000428.3(LTBP2):c.495-85C>G	noncoding	Benign
14	74611641	C	A	C74611641A	LTBP2	NM_000428.3(LTBP2):c.304G>T:p.Glu102Ter	coding	Pathogenic
14	74612670	G	A	G74612670A	LTBP2	Single_allele	noncoding	Benign
14	74781966	G	T	G74781966T	YLPM1	NM_019589.3(YLPM1):c.1923G>T:p.Gly641=	coding	Benign
14	75002852	A	G	A75002852G	EIF2B2	Single_allele	noncoding	Benign
14	75003084	G	T	G75003084T	EIF2B2	NM_014239.4(EIF2B2):c.94G>T:p.Glu32Ter	coding	Pathogenic
14	75003259	C	T	C75003259T	EIF2B2	NM_014239.4(EIF2B2):c.164-16C>T	noncoding	Benign
14	75003411	T	A	T75003411A	EIF2B2	NM_014239.4(EIF2B2):c.284+16T>A	noncoding	Benign
14	75004691	T	A	T75004691A	EIF2B2	NM_014239.4(EIF2B2):c.434-46T>A	noncoding	Benign
14	75004693	T	A	T75004693A	EIF2B2	NM_014239.4(EIF2B2):c.434-44T>A	noncoding	Benign
14	75004694	T	A	T75004694A	EIF2B2	NM_014239.4(EIF2B2):c.434-43T>A	noncoding	Benign
14	75004695	T	A	T75004695A	EIF2B2	NM_014239.4(EIF2B2):c.434-42T>A	noncoding	Benign
14	75004696	T	A	T75004696A	EIF2B2	NM_014239.4(EIF2B2):c.434-41T>A	noncoding	Benign
14	75004697	T	A	T75004697A	EIF2B2	NM_014239.4(EIF2B2):c.434-40T>A	noncoding	Benign
14	75004698	T	A	T75004698A	EIF2B2	NM_014239.4(EIF2B2):c.434-39T>A	noncoding	Benign
14	75004699	T	A	T75004699A	EIF2B2	NM_014239.4(EIF2B2):c.434-38T>A	noncoding	Benign
14	75004700	T	A	T75004700A	EIF2B2	NM_014239.4(EIF2B2):c.434-37T>A	noncoding	Benign
14	75004701	T	A	T75004701A	EIF2B2	NM_014239.4(EIF2B2):c.434-36T>A	noncoding	Benign
14	75004702	T	A	T75004702A	EIF2B2	NM_014239.4(EIF2B2):c.434-35T>A	noncoding	Benign
14	75004705	T	A	T75004705A	EIF2B2	NM_014239.4(EIF2B2):c.434-32T>A	noncoding	Benign
14	75004721	A	G	A75004721G	EIF2B2	NM_014239.4(EIF2B2):c.434-16A>G	noncoding	Benign
14	75005099	C	T	C75005099T	EIF2B2	NM_014239.4(EIF2B2):c.597+199C>T	noncoding	Benign
14	75005100	G	A	G75005100A	EIF2B2	NM_014239.4(EIF2B2):c.597+200G>A	noncoding	Benign
14	75006576	G	C	G75006576C	EIF2B2	NM_014239.4(EIF2B2):c.694-1G>C	noncoding	Pathogenic
14	75018703	G	A	G75018703A	MLH3	NM_001040108.2(MLH3):c.4242+126C>T	noncoding	Benign
14	75018786	A	G	A75018786G	MLH3	NM_001040108.2(MLH3):c.4242+43T>C	noncoding	Benign
14	75018816	G	C	G75018816C	MLH3	NM_001040108.2(MLH3):c.4242+13C>G	noncoding	Benign/Likely_benign
14	75018877	A	G	A75018877G	MLH3	NM_001040108.2(MLH3):c.4194T>C:p.Pro1398=	coding	Benign/Likely_benign
14	75022743	T	C	T75022743C	MLH3	NM_001040108.2(MLH3):c.4090+71A>G	noncoding	Benign
14	75022929	C	T	C75022929T	MLH3	NM_001040108.2(MLH3):c.4012-37G>A	noncoding	Benign
14	75022980	A	C	A75022980C	MLH3	NM_001040108.2(MLH3):c.4011+15T>G	noncoding	Benign
14	75023053	G	A	G75023053A	MLH3	NM_001040108.2(MLH3):c.3988-35C>T	noncoding	Benign
14	75030427	C	A	C75030427A	MLH3	NM_001040108.2(MLH3):c.3987+116G>T	noncoding	Benign
14	75032024	G	A	G75032024A	MLH3	NM_001040108.2(MLH3):c.3827+44C>T	noncoding	Benign
14	75033503	G	A	G75033503A	MLH3	NM_001040108.2(MLH3):c.3644-13C>T	noncoding	Benign/Likely_benign
14	75038305	G	C	G75038305C	MLH3	NM_001040108.2(MLH3):c.3643+35C>G	noncoding	Benign
14	75038313	A	G	A75038313G	MLH3	NM_001040108.2(MLH3):c.3643+27T>C	noncoding	Benign
14	75038347	G	A	G75038347A	MLH3	NM_001040108.2(MLH3):c.3636C>T:p.Gly1212=	coding	Benign/Likely_benign
14	75039883	T	A	T75039883A	MLH3	NM_001040108.2(MLH3):c.3570+28A>T	noncoding	Benign/Likely_benign
14	75040172	G	A	G75040172A	MLH3	NM_001040108.2(MLH3):c.3466-157C>T	noncoding	Benign
14	75042341	T	C	T75042341C	MLH3	NM_001040108.2(MLH3):c.3379+38A>G	noncoding	Benign
14	75046362	T	A	T75046362A	MLH3	NM_001040108.2(MLH3):c.3280+14A>T	noncoding	Benign/Likely_benign
14	75051520	C	T	C75051520T	MLH3	NM_001040108.1(MLH3):c.-204G>A	noncoding	Benign/Likely_benign
14	75051627	G	A	G75051627A	MLH3	Single_allele	noncoding	Benign
14	75084551	C	T	C75084551T	NEK9	NM_033116.6(NEK9):c.*13G>A	noncoding	Benign
14	75084739	A	C	A75084739C	NEK9	NM_033116.6(NEK9):c.2818-53T>G	noncoding	Benign
14	75086952	T	C	T75086952C	NEK9	NM_033116.6(NEK9):c.2817+66A>G	noncoding	Benign
14	75088787	C	A	C75088787A	NEK9	NM_033116.6(NEK9):c.2443-146G>T	noncoding	Benign
14	75091449	C	T	C75091449T	NEK9	NM_033116.6(NEK9):c.2263G>A:p.Gly755Ser	coding	Benign
14	75091528	A	C	A75091528C	NEK9	NM_033116.6(NEK9):c.2234-50T>G	noncoding	Benign
14	75095168	A	C	A75095168C	NEK9	NM_033116.6(NEK9):c.2233+204T>G	noncoding	Benign
14	75100826	G	C	G75100826C	NEK9	NM_033116.6(NEK9):c.2002+166C>G	noncoding	Benign
14	75101151	G	A	G75101151A	NEK9	NM_033116.6(NEK9):c.1843C>T:p.Arg615Ter	coding	Pathogenic
14	75101435	A	G	A75101435G	NEK9	NM_033116.6(NEK9):c.1840+222T>C	noncoding	Benign
14	75101796	A	G	A75101796G	NEK9	NM_033116.6(NEK9):c.1732-31T>C	noncoding	Benign
14	75103825	C	A	C75103825A	NEK9	NM_033116.6(NEK9):c.1731+17G>T	noncoding	Benign
14	75105856	T	C	T75105856C	NEK9	NM_033116.6(NEK9):c.1575+94A>G	noncoding	Benign
14	75106822	T	C	T75106822C	NEK9	NM_033116.6(NEK9):c.1328-120A>G	noncoding	Benign
14	75107384	C	T	C75107384T	NEK9	NM_033116.6(NEK9):c.1286G>A:p.Arg429His	coding	Benign
14	75113449	G	A	G75113449A	NEK9	NM_033116.6(NEK9):c.874-46C>T	noncoding	Benign
14	75120311	A	G	A75120311G	NEK9	NM_033116.6(NEK9):c.524+199T>C	noncoding	Benign
14	75120636	T	C	T75120636C	NEK9	NM_033116.6(NEK9):c.454-56A>G	noncoding	Benign
14	75120648	T	C	T75120648C	NEK9	NM_033116.6(NEK9):c.454-68A>G	noncoding	Benign
14	75124019	G	A	G75124019A	NEK9	NM_033116.6(NEK9):c.397+27C>T	noncoding	Benign
14	75124119	G	A	G75124119A	NEK9	NM_033116.6(NEK9):c.324C>T:p.His108=	coding	Benign
14	75124143	A	T	A75124143T	NEK9	NM_033116.6(NEK9):c.300T>A:p.Ile100=	coding	Benign
14	75124368	G	A	G75124368A	NEK9	NM_033116.6(NEK9):c.220-145C>T	noncoding	Benign
14	75127136	T	C	T75127136C	NEK9	Single_allele	noncoding	Benign
14	75127199	C	T	C75127199T	NEK9	Single_allele	noncoding	Benign
14	75135034	A	G	A75135034G	TMED10	NM_006827.6(TMED10):c.539-28T>C	noncoding	Benign
14	75579801	G	A	G75579801A	FLVCR2	NM_017791.3(FLVCR2):c.669+160G>A	noncoding	Benign
14	75579887	C	T	C75579887T	FLVCR2	NM_017791.3(FLVCR2):c.669+246C>T	noncoding	Benign
14	75605351	C	T	C75605351T	FLVCR2	NM_017791.3(FLVCR2):c.670-16728C>T	noncoding	Benign
14	75605685	T	C	T75605685C	FLVCR2	NM_017791.3(FLVCR2):c.670-16394T>C	noncoding	Benign
14	75605872	G	T	G75605872T	FLVCR2	NM_017791.3(FLVCR2):c.670-16207G>T	noncoding	Benign
14	75621888	G	A	G75621888A	FLVCR2	NM_017791.3(FLVCR2):c.670-191G>A	noncoding	Benign
14	75624854	T	G	T75624854G	FLVCR2	NM_017791.3(FLVCR2):c.952+102T>G	noncoding	Benign
14	75634641	A	C	A75634641C	FLVCR2	NM_017791.3(FLVCR2):c.1021-269A>C	noncoding	Benign
14	75635043	T	C	T75635043C	FLVCR2	NM_017791.3(FLVCR2):c.1124+30T>C	noncoding	Benign
14	75635049	A	G	A75635049G	FLVCR2	NM_017791.3(FLVCR2):c.1124+36A>G	noncoding	Benign
14	75641112	G	A	G75641112A	FLVCR2	NM_017791.3(FLVCR2):c.1341+52G>A	noncoding	Benign
14	75641334	C	T	C75641334T	FLVCR2	NM_017791.3(FLVCR2):c.1453+41C>T	noncoding	Benign
14	75642079	C	T	C75642079T	FLVCR2	NM_017791.3(FLVCR2):c.1509+181C>T	noncoding	Benign
14	75642080	G	T	G75642080T	FLVCR2	NM_017791.3(FLVCR2):c.1509+182G>T	noncoding	Benign
14	75669413	T	C	T75669413C	TTLL5	NM_015072.5(TTLL5):c.75-3T>C	noncoding	Benign/Likely_benign
14	75669540	C	T	C75669540T	TTLL5	NM_015072.5(TTLL5):c.181+18C>T	noncoding	Benign
14	75681628	G	A	G75681628A	TTLL5	NM_015072.5(TTLL5):c.264+1G>A	coding	Pathogenic
14	75683487	T	C	T75683487C	TTLL5	NM_015072.5(TTLL5):c.265-63T>C	noncoding	Benign
14	75683503	G	T	G75683503T	TTLL5	NM_015072.5(TTLL5):c.265-47G>T	noncoding	Benign
14	75683639	A	G	A75683639G	TTLL5	NM_015072.5(TTLL5):c.354A>G:p.Lys118=	coding	Benign
14	75690391	T	G	T75690391G	TTLL5	NM_015072.5(TTLL5):c.502+69T>G	noncoding	Benign
14	75699261	G	T	G75699261T	TTLL5	NM_015072.5(TTLL5):c.576G>T:p.Leu192=	coding	Benign
14	75707713	A	G	A75707713G	TTLL5	NM_015072.5(TTLL5):c.740+6A>G	noncoding	Benign
14	75717944	A	G	A75717944G	TTLL5	NM_015072.5(TTLL5):c.824A>G:p.Lys275Arg	coding	Benign
14	75719836	G	A	G75719836A	TTLL5	NM_015072.5(TTLL5):c.934+10G>A	noncoding	Benign
14	75719871	A	G	A75719871G	TTLL5	NM_015072.5(TTLL5):c.934+45A>G	noncoding	Benign
14	75734030	C	G	C75734030G	TTLL5	NM_015072.5(TTLL5):c.1166C>G:p.Ser389Ter	coding	Pathogenic
14	75734064	T	G	T75734064G	TTLL5	NM_015072.5(TTLL5):c.1186+14T>G	noncoding	Benign
14	75735266	C	T	C75735266T	TTLL5	NM_015072.5(TTLL5):c.1258C>T:p.Arg420Ter	coding	Pathogenic
14	75745125	G	T	G75745125T	TTLL5	NM_015072.5(TTLL5):c.1312G>T:p.Glu438Ter	coding	Pathogenic
14	75745219	G	T	G75745219T	TTLL5	NM_015072.5(TTLL5):c.1395+11G>T	noncoding	Benign
14	75745468	T	C	T75745468C	TTLL5	NM_015072.5(TTLL5):c.1396-22T>C	noncoding	Benign
14	75745516	G	A	G75745516A	TTLL5	NM_015072.5(TTLL5):c.1422G>A:p.Glu474=	coding	Benign
14	75745529	C	T	C75745529T	TTLL5	NM_015072.5(TTLL5):c.1435C>T:p.Arg479Ter	coding	Pathogenic/Likely_pathogenic
14	75764640	T	C	T75764640C	TTLL5	NM_015072.5(TTLL5):c.1576T>C:p.Leu526=	coding	Benign
14	75764730	C	T	C75764730T	TTLL5	NM_015072.5(TTLL5):c.1666C>T:p.Arg556Ter	coding	Pathogenic
14	75766053	C	T	C75766053T	TTLL5	NM_015072.5(TTLL5):c.1709-9C>T	noncoding	Benign
14	75766340	C	T	C75766340T	TTLL5	NM_015072.5(TTLL5):c.1987C>T:p.Gln663Ter	coding	Pathogenic
14	75771660	G	A	G75771660A	TTLL5	NM_015072.5(TTLL5):c.2016-74G>A	noncoding	Benign
14	75775556	C	T	C75775556T	TTLL5	NM_015072.5(TTLL5):c.2209C>T:p.Arg737Ter	coding	Pathogenic/Likely_pathogenic
14	75775559	C	T	C75775559T	TTLL5	NM_015072.5(TTLL5):c.2212C>T:p.Arg738Ter	coding	Pathogenic
14	75776861	T	A	T75776861A	TTLL5	NM_015072.5(TTLL5):c.2387+11T>A	noncoding	Benign
14	75779563	T	C	T75779563C	TTLL5	NM_015072.5(TTLL5):c.2388-12T>C	noncoding	Benign
14	75783143	A	G	A75783143G	TTLL5	NM_015072.5(TTLL5):c.2603-4A>G	noncoding	Benign
14	75783416	A	G	A75783416G	TTLL5	NM_015072.5(TTLL5):c.2872A>G:p.Thr958Ala	coding	Benign/Likely_benign
14	75783494	A	T	A75783494T	TTLL5	NM_015072.5(TTLL5):c.2950A>T:p.Ser984Cys	coding	Benign
14	75783514	C	G	C75783514G	TTLL5	NM_015072.5(TTLL5):c.2970C>G:p.Pro990=	coding	Benign
14	75863787	A	G	A75863787G	TTLL5	NM_015072.5(TTLL5):c.3447A>G:p.Gln1149=	coding	Benign
14	75863838	G	A	G75863838A	TTLL5	NM_015072.5(TTLL5):c.3498G>A:p.Leu1166=	coding	Benign
14	75863848	C	T	C75863848T	TTLL5	NM_015072.5(TTLL5):c.3508C>T:p.Arg1170Ter	coding	Pathogenic/Likely_pathogenic
14	75863935	G	A	G75863935A	TTLL5	NM_015072.5(TTLL5):c.3522+73G>A	noncoding	Benign
14	75902161	C	T	C75902161T	TTLL5	NM_015072.5(TTLL5):c.3760C>T:p.Gln1254Ter	coding	Pathogenic
14	75958491	A	G	A75958491G	TGFB3	NM_003239.5(TGFB3):c.*696T>C	noncoding	Benign
14	75958521	T	C	T75958521C	TGFB3	NM_003239.5(TGFB3):c.*666A>G	noncoding	Benign
14	75959359	T	C	T75959359C	TGFB3	NM_003239.5(TGFB3):c.1081-14A>G	noncoding	Benign/Likely_benign
14	75961007	C	T	C75961007T	TGFB3	NM_003239.5(TGFB3):c.996G>A:p.Trp332Ter	coding	Pathogenic
14	75961013	C	T	C75961013T	TGFB3	NM_003239.5(TGFB3):c.990G>A:p.Trp330Ter	coding	Pathogenic
14	75961030	G	A	G75961030A	TGFB3	NM_003239.5(TGFB3):c.973C>T:p.Arg325Ter	coding	Pathogenic/Likely_pathogenic
14	75961096	T	C	T75961096C	TGFB3	NM_003239.5(TGFB3):c.927-20A>G	noncoding	Benign/Likely_benign
14	75963212	C	T	C75963212T	TGFB3	NM_003239.5(TGFB3):c.926+104G>A	noncoding	Benign
14	75963321	G	A	G75963321A	TGFB3	NM_003239.5(TGFB3):c.921C>T:p.Cys307=	coding	Benign/Likely_benign
14	75963444	G	A	G75963444A	TGFB3	NM_003239.5(TGFB3):c.798C>T:p.Arg266=	coding	Benign/Likely_benign
14	75965449	T	C	T75965449C	TGFB3	NM_003239.5(TGFB3):c.754+139A>G	noncoding	Benign
14	75965707	G	C	G75965707C	TGFB3	NM_003239.5(TGFB3):c.647-12C>G	noncoding	Benign/Likely_benign
14	75965793	T	C	T75965793C	TGFB3	NM_003239.5(TGFB3):c.647-98A>G	noncoding	Benign
14	75971271	A	G	A75971271G	TGFB3	NM_003239.5(TGFB3):c.517-16T>C	noncoding	Benign/Likely_benign
14	75971629	G	A	G75971629A	TGFB3	NM_003239.5(TGFB3):c.442C>T:p.Arg148Ter	coding	Pathogenic/Likely_pathogenic
14	75980306	A	G	A75980306G	TGFB3	NM_003239.5(TGFB3):c.352+236T>C	noncoding	Benign
14	75985855	G	T	G75985855T	IFT43	NM_001102564.3(IFT43):c.54+15G>T	noncoding	Benign
14	75988868	T	C	T75988868C	IFT43	NM_001102564.3(IFT43):c.55-17T>C	noncoding	Benign
14	75988870	T	A	T75988870A	IFT43	NM_001102564.3(IFT43):c.55-15T>A	noncoding	Benign
14	76022208	A	G	A76022208G	IFT43	NM_001102564.3(IFT43):c.148-119A>G	noncoding	Benign
14	76022312	T	C	T76022312C	IFT43	NM_001102564.3(IFT43):c.148-15T>C	noncoding	Benign
14	76022348	C	T	C76022348T	IFT43	NM_001102564.3(IFT43):c.169C>T:p.Arg57Cys	coding	Benign
14	76022609	C	T	C76022609T	IFT43	NM_001102564.3(IFT43):c.215+215C>T	noncoding	Benign
14	76058450	G	T	G76058450T	IFT43	NM_001102564.3(IFT43):c.216-192G>T	noncoding	Benign
14	76059172	A	C	A76059172C	IFT43	NM_001102564.3(IFT43):c.249-155A>C	coding	Benign
14	76059210	A	G	A76059210G	IFT43	NM_001102564.3(IFT43):c.249-117A>G	coding	Benign
14	76076513	A	G	A76076513G	IFT43	NM_001102564.3(IFT43):c.296-5782A>G	noncoding	Benign
14	76076661	G	A	G76076661A	IFT43	NM_001102564.3(IFT43):c.296-5634G>A	coding	Benign
14	76076932	C	A	C76076932A	IFT43	NM_001102564.3(IFT43):c.296-5363C>A	noncoding	Benign
14	76082327	C	T	C76082327T	IFT43	NM_001102564.3(IFT43):c.328C>T:p.Gln110Ter	coding	Pathogenic
14	76082396	G	A	G76082396A	IFT43	NM_001102564.3(IFT43):c.368+29G>A	noncoding	Benign
14	76083034	G	A	G76083034A	IFT43	NM_001102564.3(IFT43):c.445-193G>A	noncoding	Benign
14	76083270	C	T	C76083270T	IFT43	NM_001102564.3(IFT43):c.488C>T:p.Pro163Leu	coding	Benign
14	76083409	G	A	G76083409A	IFT43	NM_001102564.3(IFT43):c.508-49G>A	noncoding	Benign
14	76439814	T	C	T76439814C	ESRRB	NM_001379180.1(ESRRB):c.460+64T>C	noncoding	Benign
14	76462282	A	G	A76462282G	ESRRB	NM_001379180.1(ESRRB):c.461-263A>G	noncoding	Benign
14	76462331	A	G	A76462331G	ESRRB	NM_001379180.1(ESRRB):c.461-214A>G	noncoding	Benign
14	76462387	A	G	A76462387G	ESRRB	NM_001379180.1(ESRRB):c.461-158A>G	noncoding	Benign
14	76462429	A	G	A76462429G	ESRRB	NM_001379180.1(ESRRB):c.461-116A>G	noncoding	Benign
14	76462433	G	A	G76462433A	ESRRB	NM_001379180.1(ESRRB):c.461-112G>A	noncoding	Benign
14	76462646	G	A	G76462646A	ESRRB	NM_001379180.1(ESRRB):c.562G>A:p.Gly188Arg	coding	Pathogenic
14	76482519	T	C	T76482519C	ESRRB	NM_001379180.1(ESRRB):c.689-79T>C	noncoding	Benign
14	76482949	C	T	C76482949T	ESRRB	NM_001379180.1(ESRRB):c.850+190C>T	noncoding	Benign
14	76491402	G	C	G76491402C	ESRRB	NM_001379180.1(ESRRB):c.851-45G>C	noncoding	Benign
14	76491727	C	T	C76491727T	ESRRB	NM_001379180.1(ESRRB):c.1120+11C>T	noncoding	Benign/Likely_benign
14	76491735	C	T	C76491735T	ESRRB	NM_001379180.1(ESRRB):c.1120+19C>T	noncoding	Benign
14	76498471	C	T	C76498471T	ESRRB	NM_001379180.1(ESRRB):c.*13C>T	noncoding	Benign/Likely_benign
14	76498583	C	T	C76498583T	ESRRB	NM_001379180.1(ESRRB):c.*125C>T	noncoding	Benign
14	76498633	T	C	T76498633C	ESRRB	NM_001379180.1(ESRRB):c.*175T>C	noncoding	Benign
14	76499565	A	G	A76499565G	ESRRB	NM_001379180.1(ESRRB):c.*1107A>G	noncoding	Benign
14	76499619	T	G	T76499619G	ESRRB	NM_001379180.1(ESRRB):c.*1161T>G	noncoding	Benign
14	76499750	A	G	A76499750G	ESRRB	NM_001379180.1(ESRRB):c.*1292A>G	noncoding	Benign
14	76500292	G	T	G76500292T	ESRRB	NM_001379180.1(ESRRB):c.*1834G>T	noncoding	Benign
14	77026100	G	A	G77026100A	IRF2BPL	NM_024496.4(IRF2BPL):c.1693C>T:p.Gln565Ter	coding	Pathogenic
14	77026548	G	A	G77026548A	IRF2BPL	NM_024496.4(IRF2BPL):c.1245C>T:p.Tyr415=	coding	Benign
14	77027072	T	G	T77027072G	IRF2BPL	NM_024496.4(IRF2BPL):c.721A>C:p.Asn241His	coding	Benign
14	77027279	C	A	C77027279A	IRF2BPL	NM_024496.4(IRF2BPL):c.514G>T:p.Glu172Ter	coding	Pathogenic/Likely_pathogenic
14	77027297	C	A	C77027297A	IRF2BPL	NM_024496.4(IRF2BPL):c.496G>T:p.Glu166Ter	coding	Pathogenic
14	77027304	A	G	A77027304G	IRF2BPL	NM_024496.4(IRF2BPL):c.489T>C:p.Ala163=	coding	Benign
14	77027445	C	T	C77027445T	IRF2BPL	NM_024496.4(IRF2BPL):c.348G>A:p.Gln116=	coding	Benign
14	77027472	T	C	T77027472C	IRF2BPL	NM_024496.4(IRF2BPL):c.321A>G:p.Gln107=	coding	Benign
14	77027532	T	C	T77027532C	IRF2BPL	NM_024496.4(IRF2BPL):c.261A>G:p.Glu87=	coding	Benign
14	77225454	A	G	A77225454G	TMEM63C	NM_020431.4(TMEM63C):c.343A>G:p.Thr115Ala	coding	Benign
14	77236666	C	G	C77236666G	TMEM63C	NM_020431.4(TMEM63C):c.585C>G:p.Tyr195Ter	coding	Pathogenic
14	77278247	C	T	C77278247T	POMT2	NM_013382.7(POMT2):c.2147+147G>A	noncoding	Benign
14	77278414	C	T	C77278414T	POMT2	NM_013382.7(POMT2):c.2127G>A:p.Leu709=	coding	Benign/Likely_benign
14	77278817	T	C	T77278817C	POMT2	NM_013382.7(POMT2):c.1944A>G:p.Thr648=	coding	Benign/Likely_benign
14	77278821	C	T	C77278821T	POMT2	NM_013382.7(POMT2):c.1940G>A:p.Trp647Ter	coding	Pathogenic
14	77284971	C	A	C77284971A	POMT2	NM_013382.7(POMT2):c.1555G>T:p.Glu519Ter	coding	Pathogenic
14	77284989	T	C	T77284989C	POMT2	NM_013382.7(POMT2):c.1537A>G:p.Asn513Asp	coding	Benign/Likely_benign
14	77286815	G	A	G77286815A	POMT2	NM_013382.7(POMT2):c.1261C>T:p.Arg421Trp	coding	Pathogenic/Likely_pathogenic
14	77288778	G	A	G77288778A	POMT2	NM_013382.7(POMT2):c.1237C>T:p.Arg413Ter	coding	Pathogenic
14	77288983	G	A	G77288983A	POMT2	NM_013382.7(POMT2):c.1184-152C>T	noncoding	Benign
14	77296361	T	C	T77296361C	POMT2	NM_013382.7(POMT2):c.1007-88A>G	noncoding	Benign
14	77298541	G	A	G77298541A	POMT2	NM_013382.7(POMT2):c.1006+148C>T	noncoding	Benign
14	77299114	T	C	T77299114C	POMT2	NM_013382.7(POMT2):c.923+341A>G	noncoding	Benign
14	77301228	C	T	C77301228T	POMT2	NM_013382.7(POMT2):c.678G>A:p.Trp226Ter	coding	Pathogenic
14	77302819	G	C	G77302819C	POMT2	NM_013382.7(POMT2):c.656+16C>G	noncoding	Benign
14	77306070	T	C	T77306070C	POMT2	NM_013382.7(POMT2):c.438+267A>G	noncoding	Benign
14	77306178	T	A	T77306178A	POMT2	NM_013382.7(POMT2):c.438+159A>T	noncoding	Benign
14	77320283	C	T	C77320283T	POMT2	NM_013382.7(POMT2):c.248+151G>A	noncoding	Benign
14	77326864	G	A	G77326864A	GSTZ1	NM_145870.3(GSTZ1):c.94G>A:p.Glu32Lys	coding	Benign
14	77326894	G	A	G77326894A	GSTZ1	NM_145870.3(GSTZ1):c.124G>A:p.Gly42Arg	coding	Benign
14	77330298	G	A	G77330298A	GSTZ1	NM_145870.3(GSTZ1):c.475-12G>A	noncoding	Benign
14	77428776	T	C	T77428776C	VIPAS39	NM_001193315.2(VIPAS39):c.1356+230A>G	noncoding	Benign
14	77428794	G	A	G77428794A	VIPAS39	NM_001193315.2(VIPAS39):c.1356+212C>T	noncoding	Benign
14	77429295	G	T	G77429295T	VIPAS39	NM_001193315.2(VIPAS39):c.1267-200C>A	noncoding	Benign
14	77429944	A	G	A77429944G	VIPAS39	NM_001193315.2(VIPAS39):c.1180-177T>C	noncoding	Benign
14	77433880	G	A	G77433880A	VIPAS39	NM_001193315.2(VIPAS39):c.1141C>T:p.Arg381Ter	coding	Pathogenic
14	77434147	T	G	T77434147G	VIPAS39	NM_001193315.2(VIPAS39):c.1089+115A>C	noncoding	Benign
14	77435113	C	A	C77435113A	VIPAS39	NM_001193315.2(VIPAS39):c.1047+146G>T	noncoding	Benign
14	77435348	G	A	G77435348A	VIPAS39	NM_001193315.2(VIPAS39):c.958C>T:p.Arg320Ter	coding	Pathogenic/Likely_pathogenic
14	77435565	C	A	C77435565A	VIPAS39	NM_001193315.2(VIPAS39):c.913-172G>T	noncoding	Benign
14	77435695	G	A	G77435695A	VIPAS39	NM_001193315.2(VIPAS39):c.912+149C>T	noncoding	Benign
14	77436075	A	G	A77436075G	VIPAS39	NM_001193315.2(VIPAS39):c.837-156T>C	noncoding	Benign
14	77437607	T	C	T77437607C	VIPAS39	NM_001193315.2(VIPAS39):c.836+201A>G	noncoding	Benign
14	77442245	A	G	A77442245G	VIPAS39	NM_001193315.2(VIPAS39):c.734+315T>C	noncoding	Benign
14	77442411	A	C	A77442411C	VIPAS39	NM_001193315.2(VIPAS39):c.734+149T>G	noncoding	Benign
14	77442676	A	G	A77442676G	VIPAS39	NM_001193315.2(VIPAS39):c.632-14T>C	noncoding	Benign/Likely_benign
14	77443207	T	C	T77443207C	VIPAS39	NM_001193315.2(VIPAS39):c.598-55A>G	noncoding	Benign
14	77443430	C	T	C77443430T	VIPAS39	NM_001193315.2(VIPAS39):c.598-278G>A	noncoding	Benign
14	77448331	T	C	T77448331C	VIPAS39	NM_001193315.2(VIPAS39):c.504+163A>G	noncoding	Benign
14	77448378	T	A	T77448378A	VIPAS39	NM_001193315.2(VIPAS39):c.504+116A>T	noncoding	Benign
14	77448409	A	G	A77448409G	VIPAS39	NM_001193315.2(VIPAS39):c.504+85T>C	noncoding	Benign
14	77448514	G	A	G77448514A	VIPAS39	NM_001193315.2(VIPAS39):c.484C>T:p.Arg162Ter	coding	Pathogenic
14	77448606	A	G	A77448606G	VIPAS39	NM_001193315.2(VIPAS39):c.448-56T>C	noncoding	Benign
14	77448655	A	C	A77448655C	VIPAS39	NM_001193315.2(VIPAS39):c.448-105T>G	noncoding	Benign
14	77449431	G	C	G77449431C	VIPAS39	NM_001193315.2(VIPAS39):c.383-74C>G	noncoding	Benign
14	77449842	A	T	A77449842T	VIPAS39	NM_001193315.2(VIPAS39):c.344-90T>A	noncoding	Benign
14	77449862	T	C	T77449862C	VIPAS39	NM_001193315.2(VIPAS39):c.344-110A>G	noncoding	Benign
14	77451069	A	G	A77451069G	VIPAS39	NM_001193315.2(VIPAS39):c.343+118T>C	noncoding	Benign
14	77451089	C	T	C77451089T	VIPAS39	NM_001193315.2(VIPAS39):c.343+98G>A	noncoding	Benign
14	77451525	A	C	A77451525C	VIPAS39	NM_001193315.2(VIPAS39):c.197-192T>G	noncoding	Benign
14	77453075	T	C	T77453075C	VIPAS39	NM_001193315.2(VIPAS39):c.196+224A>G	noncoding	Benign
14	77453079	A	C	A77453079C	VIPAS39	NM_001193315.2(VIPAS39):c.196+220T>G	noncoding	Benign
14	77453244	T	C	T77453244C	VIPAS39	NM_001193315.2(VIPAS39):c.196+55A>G	noncoding	Benign
14	77521720	G	C	G77521720C	SPTLC2	NM_004863.4(SPTLC2):c.1304-139C>G	noncoding	Benign
14	77521730	T	C	T77521730C	SPTLC2	NM_004863.4(SPTLC2):c.1304-149A>G	noncoding	Benign
14	77535923	G	A	G77535923A	SPTLC2	NM_004863.4(SPTLC2):c.1304-14342C>T	noncoding	Benign
14	77551830	T	C	T77551830C	SPTLC2	NM_004863.4(SPTLC2):c.1303+266A>G	noncoding	Benign
14	77552045	G	A	G77552045A	SPTLC2	NM_004863.4(SPTLC2):c.1303+51C>T	noncoding	Benign
14	77555272	T	C	T77555272C	SPTLC2	NM_004863.4(SPTLC2):c.1176+28A>G	noncoding	Benign
14	77555328	G	A	G77555328A	SPTLC2	NM_004863.4(SPTLC2):c.1148C>T:p.Ala383Val	coding	Pathogenic
14	77555539	T	A	T77555539A	SPTLC2	NM_004863.4(SPTLC2):c.957-20A>T	noncoding	Benign
14	77555609	G	A	G77555609A	SPTLC2	NM_004863.4(SPTLC2):c.957-90C>T	noncoding	Benign
14	77557467	G	A	G77557467A	SPTLC2	NM_004863.4(SPTLC2):c.851-321C>T	noncoding	Benign
14	77570315	C	G	C77570315G	SPTLC2	NM_004863.4(SPTLC2):c.756+69G>C	noncoding	Benign
14	77570474	A	G	A77570474G	SPTLC2	NM_004863.4(SPTLC2):c.666T>C:p.Leu222=	coding	Benign
14	77570819	G	C	G77570819C	SPTLC2	NM_004863.4(SPTLC2):c.632-311C>G	noncoding	Benign
14	77578707	G	A	G77578707A	SPTLC2	NM_004863.4(SPTLC2):c.482+248C>T	noncoding	Benign
14	77579139	T	G	T77579139G	SPTLC2	NM_004863.4(SPTLC2):c.328-30A>C	noncoding	Benign
14	77579163	A	T	A77579163T	SPTLC2	NM_004863.4(SPTLC2):c.328-54T>A	noncoding	Benign
14	77596936	T	G	T77596936G	SPTLC2	NM_004863.4(SPTLC2):c.327+250A>C	noncoding	Benign
14	77597097	A	C	A77597097C	SPTLC2	NM_004863.4(SPTLC2):c.327+89T>G	noncoding	Benign
14	78803750	G	A	G78803750A	NRXN3	NM_001330195.2(NRXN3):c.2175G>A:p.Thr725=	coding	Benign
14	80955913	G	C	G80955913C	TSHR	NM_000369.5(TSHR):c.170+63G>C	noncoding	Benign
14	81062068	T	A	T81062068A	TSHR	NM_000369.5(TSHR):c.171-80T>A	noncoding	Benign
14	81068096	T	C	T81068096C	TSHR	NM_000369.5(TSHR):c.243-158T>C	noncoding	Benign
14	81088273	A	G	A81088273G	TSHR	NM_000369.5(TSHR):c.392+245A>G	noncoding	Benign
14	81090935	G	T	G81090935T	TSHR	NM_000369.5(TSHR):c.393-134G>T	noncoding	Benign
14	81092462	C	T	C81092462T	TSHR	NM_000369.5(TSHR):c.468-69C>T	noncoding	Benign
14	81092877	G	A	G81092877A	TSHR	NM_000369.5(TSHR):c.545+269G>A	noncoding	Benign
14	81096464	A	G	A81096464G	TSHR	NM_000369.5(TSHR):c.546-175A>G	noncoding	Benign
14	81108500	T	A	T81108500A	TSHR	NM_000369.5(TSHR):c.692+48T>A	noncoding	Benign
14	81108501	T	C	T81108501C	TSHR	NM_000369.5(TSHR):c.692+49T>C	noncoding	Benign/Likely_benign
14	81108615	A	G	A81108615G	TSHR	NM_000369.5(TSHR):c.692+163A>G	coding	Benign
14	81108661	C	A	C81108661A	TSHR	NM_000369.5(TSHR):c.692+209C>A	coding	Benign
14	87934734	A	G	A87934734G	GALC	NM_000153.4(GALC):c.2056T>C:p.Ter686Gln	coding	Pathogenic
14	87935099	G	A	G87935099A	GALC	NM_000153.4(GALC):c.1912-221C>T	noncoding	Benign
14	87935116	A	G	A87935116G	GALC	NM_000153.4(GALC):c.1912-238T>C	noncoding	Benign
14	87940060	T	C	T87940060C	GALC	NM_000153.4(GALC):c.1835-79A>G	noncoding	Benign
14	87940185	G	C	G87940185C	GALC	NM_000153.4(GALC):c.1835-204C>G	noncoding	Benign
14	87941476	C	A	C87941476A	GALC	NM_000153.4(GALC):c.1753G>T:p.Gly585Cys	coding	Pathogenic/Likely_pathogenic
14	87941543	T	A	T87941543A	GALC	NM_000153.4(GALC):c.1686A>T:p.Ile562=	coding	Benign
14	87941713	A	C	A87941713C	GALC	NM_000153.4(GALC):c.1671-155T>G	noncoding	Benign
14	87941720	T	C	T87941720C	GALC	NM_000153.4(GALC):c.1671-162A>G	noncoding	Benign
14	87945493	G	A	G87945493A	GALC	NM_000153.4(GALC):c.1670+60C>T	noncoding	Benign
14	87945534	T	A	T87945534A	GALC	NM_000153.4(GALC):c.1670+19A>T	noncoding	Benign/Likely_benign
14	87945632	G	A	G87945632A	GALC	NM_000153.4(GALC):c.1591C>T:p.Arg531Cys	coding	Pathogenic/Likely_pathogenic
14	87945682	A	G	A87945682G	GALC	NM_000153.4(GALC):c.1541T>C:p.Phe514Ser	coding	Pathogenic/Likely_pathogenic
14	87947541	C	A	C87947541A	GALC	NM_000153.4(GALC):c.1489+187G>T	noncoding	Benign
14	87947727	C	T	C87947727T	GALC	NM_000153.4(GALC):c.1489+1G>A	noncoding	Pathogenic
14	87947823	G	A	G87947823A	GALC	NM_000153.4(GALC):c.1394C>T:p.Thr465Ile	coding	Pathogenic
14	87947879	C	A	C87947879A	GALC	NM_000153.4(GALC):c.1339-1G>T	coding	Pathogenic
14	87947939	G	A	G87947939A	GALC	NM_000153.4(GALC):c.1339-61C>T	noncoding	Benign
14	87947957	T	C	T87947957C	GALC	NM_000153.4(GALC):c.1339-79A>G	noncoding	Benign
14	87949585	C	T	C87949585T	GALC	NM_000153.4(GALC):c.1338+260G>A	noncoding	Benign
14	87949673	G	A	G87949673A	GALC	NM_000153.4(GALC):c.1338+172C>T	noncoding	Benign
14	87949892	C	A	C87949892A	GALC	NM_000153.4(GALC):c.1291G>T:p.Gly431Ter	coding	Pathogenic
14	87949913	G	A	G87949913A	GALC	NM_000153.4(GALC):c.1270C>T:p.Gln424Ter	coding	Pathogenic
14	87949932	C	G	C87949932G	GALC	NM_000153.4(GALC):c.1252-1G>C	coding	Pathogenic
14	87950509	G	A	G87950509A	GALC	NM_000153.4(GALC):c.1251+150C>T	noncoding	Benign
14	87950641	T	C	T87950641C	GALC	NM_000153.4(GALC):c.1251+18A>G	noncoding	Benign
14	87950817	C	T	C87950817T	GALC	NM_000153.4(GALC):c.1162-69G>A	noncoding	Benign
14	87963144	A	C	A87963144C	GALC	NM_000153.4(GALC):c.1161+240T>G	noncoding	Benign
14	87963398	T	C	T87963398C	GALC	NM_000153.4(GALC):c.1147A>G:p.Ile383Val	coding	Benign
14	87963438	G	C	G87963438C	GALC	NM_000153.4(GALC):c.1107C>G:p.Ser369Arg	coding	Pathogenic
14	87965556	G	A	G87965556A	GALC	NM_000153.4(GALC):c.982C>T:p.Gln328Ter	coding	Pathogenic/Likely_pathogenic
14	87965571	C	A	C87965571A	GALC	NM_000153.4(GALC):c.967G>T:p.Gly323Trp	coding	Pathogenic
14	87965571	C	T	C87965571T	GALC	NM_000153.4(GALC):c.967G>A:p.Gly323Arg	coding	Pathogenic
14	87965586	G	C	G87965586C	GALC	NM_000153.4(GALC):c.952C>G:p.Pro318Ala	coding	Pathogenic/Likely_pathogenic
14	87965597	T	C	T87965597C	GALC	NM_000153.4(GALC):c.941A>G:p.Tyr314Cys	coding	Pathogenic
14	87965822	T	C	T87965822C	GALC	NM_000153.4(GALC):c.909-193A>G	noncoding	Benign
14	87968213	C	T	C87968213T	GALC	NM_000153.4(GALC):c.908+122G>A	noncoding	Benign
14	87968359	T	A	T87968359A	GALC	NM_000153.4(GALC):c.884A>T:p.Asn295Ile	coding	Pathogenic/Likely_pathogenic
14	87968375	G	A	G87968375A	GALC	NM_000153.4(GALC):c.868C>T:p.Arg290Cys	coding	Pathogenic/Likely_pathogenic
14	87968549	G	A	G87968549A	GALC	NM_000153.4(GALC):c.753-59C>T	noncoding	Benign
14	87976238	G	A	G87976238A	GALC	NM_000153.4(GALC):c.752+120C>T	noncoding	Benign
14	87976302	A	G	A87976302G	GALC	NM_000153.4(GALC):c.752+56T>C	noncoding	Benign
14	87982107	A	G	A87982107G	GALC	NM_000153.4(GALC):c.621+98T>C	noncoding	Benign
14	87982142	A	T	A87982142T	GALC	NM_000153.4(GALC):c.621+63T>A	noncoding	Benign
14	87982244	C	G	C87982244G	GALC	NM_000153.4(GALC):c.583-1G>C	coding	Pathogenic/Likely_pathogenic
14	87982299	C	T	C87982299T	GALC	NM_000153.4(GALC):c.583-56G>A	noncoding	Benign
14	87982351	C	A	C87982351A	GALC	NM_000153.4(GALC):c.583-108G>T	noncoding	Benign
14	87982351	C	T	C87982351T	GALC	NM_000153.4(GALC):c.583-108G>A	noncoding	Benign
14	87984295	G	A	G87984295A	GALC	NM_000153.4(GALC):c.582+99C>T	noncoding	Benign
14	87984416	T	A	T87984416A	GALC	NM_000153.4(GALC):c.560A>T:p.Asp187Val	coding	Pathogenic/Likely_pathogenic
14	87984443	C	T	C87984443T	GALC	NM_000153.4(GALC):c.533G>A:p.Trp178Ter	coding	Pathogenic/Likely_pathogenic
14	87984471	G	A	G87984471A	GALC	NM_000153.4(GALC):c.505C>T:p.Gln169Ter	coding	Pathogenic
14	87984487	C	T	C87984487T	GALC	NM_000153.4(GALC):c.489G>A:p.Trp163Ter	coding	Pathogenic/Likely_pathogenic
14	87984515	G	T	G87984515T	GALC	NM_000153.4(GALC):c.461C>A:p.Pro154His	coding	Pathogenic
14	87984584	C	T	C87984584T	GALC	NM_000153.4(GALC):c.443-51G>A	noncoding	Benign
14	87986535	C	T	C87986535T	GALC	NM_000153.4(GALC):c.396G>A:p.Trp132Ter	coding	Pathogenic
14	87986543	C	T	C87986543T	GALC	NM_000153.4(GALC):c.388G>A:p.Glu130Lys	coding	Pathogenic/Likely_pathogenic
14	87986582	T	A	T87986582A	GALC	NM_000153.4(GALC):c.349A>T:p.Met117Leu	coding	Pathogenic
14	87986842	A	G	A87986842G	GALC	NM_000153.4(GALC):c.329-240T>C	noncoding	Benign
14	87986934	T	G	T87986934G	GALC	NM_000153.4(GALC):c.329-332A>C	noncoding	Benign
14	87988100	T	C	T87988100C	GALC	NM_000153.4(GALC):c.328+44A>G	noncoding	Benign
14	87988209	T	C	T87988209C	GALC	NM_000153.4(GALC):c.265-2A>G	noncoding	Pathogenic/Likely_pathogenic
14	87988347	C	T	C87988347T	GALC	NM_000153.4(GALC):c.264+108G>A	noncoding	Benign
14	87988593	C	T	C87988593T	GALC	NM_000153.4(GALC):c.196-70G>A	noncoding	Benign
14	87992936	C	A	C87992936A	GALC	NM_000153.4(GALC):c.195+34G>T	noncoding	Benign
14	87992936	C	G	C87992936G	GALC	NM_000153.4(GALC):c.195+34G>C	noncoding	Benign
14	87992969	C	T	C87992969T	GALC	NM_000153.4(GALC):c.195+1G>A	noncoding	Pathogenic/Likely_pathogenic
14	87993128	G	A	G87993128A	GALC	NM_000153.4(GALC):c.37C>T:p.Arg13Ter	coding	Pathogenic
14	87993136	C	T	C87993136T	GALC	NM_000153.4(GALC):c.29G>A:p.Trp10Ter	coding	Pathogenic
14	87993451	C	T	C87993451T	GALC	NM_000153.4(GALC):c.-287G>A	coding	Benign
14	87993627	G	A	G87993627A	GALC	NM_000153.4(GALC):c.-463C>T	noncoding	Benign/Likely_benign
14	88385839	T	A	T88385839A	SPATA7	NM_018418.5(SPATA7):c.19+2T>A	noncoding	Pathogenic
14	88391362	T	G	T88391362G	SPATA7	NM_018418.5(SPATA7):c.20-19T>G	noncoding	Benign
14	88391475	C	T	C88391475T	SPATA7	NM_018418.5(SPATA7):c.94+20C>T	noncoding	Benign
14	88393504	T	C	T88393504C	SPATA7	NM_018418.5(SPATA7):c.190+16T>C	noncoding	Benign
14	88416794	C	T	C88416794T	SPATA7	NM_018418.5(SPATA7):c.322C>T:p.Arg108Ter	coding	Pathogenic/Likely_pathogenic
14	88416817	C	T	C88416817T	SPATA7	NM_018418.5(SPATA7):c.345C>T:p.Ser115=	coding	Benign
14	88426240	C	T	C88426240T	SPATA7	NM_018418.5(SPATA7):c.381C>T:p.Gly127=	coding	Benign
14	88429325	T	G	T88429325G	SPATA7	NM_018418.5(SPATA7):c.913-23T>G	noncoding	Benign
14	88433152	A	G	A88433152G	SPATA7	NM_018418.5(SPATA7):c.1100A>G:p.Tyr367Cys	coding	Pathogenic
14	88437592	G	T	G88437592T	SPATA7	NM_018418.5(SPATA7):c.1210G>T:p.Glu404Ter	coding	Pathogenic
14	88437604	C	A	C88437604A	SPATA7	NM_018418.5(SPATA7):c.1215+7C>A	noncoding	Benign
14	88596823	A	G	A88596823G	ZC3H14	NM_024824.5(ZC3H14):c.1354+15A>G	noncoding	Benign
14	88824823	T	C	T88824823C	TTC8	NM_144596.4(TTC8):c.114+2T>C	noncoding	Pathogenic/Likely_pathogenic
14	88825054	T	C	T88825054C	TTC8	NM_144596.4(TTC8):c.114+233T>C	noncoding	Benign
14	88839445	G	A	G88839445A	TTC8	NM_144596.4(TTC8):c.145-7G>A	noncoding	Benign
14	88839573	G	A	G88839573A	TTC8	NM_144596.4(TTC8):c.265+1G>A	coding	Pathogenic
14	88840863	A	G	A88840863G	TTC8	NM_144596.4(TTC8):c.266-2A>G	noncoding	Pathogenic
14	88841494	C	T	C88841494T	TTC8	NM_144596.4(TTC8):c.559C>T:p.Gln187Ter	coding	Pathogenic/Likely_pathogenic
14	88844002	T	C	T88844002C	TTC8	NM_144596.4(TTC8):c.624+152T>C	noncoding	Benign
14	88853020	G	A	G88853020A	TTC8	NM_144596.4(TTC8):c.674G>A:p.Trp225Ter	coding	Pathogenic
14	88861350	T	C	T88861350C	TTC8	NM_144596.4(TTC8):c.909+18T>C	noncoding	Benign
14	88870170	C	T	C88870170T	TTC8	NM_144596.4(TTC8):c.1021C>T:p.Gln341Ter	coding	Pathogenic
14	88876977	G	A	G88876977A	TTC8	NM_144596.4(TTC8):c.1432-317G>A	noncoding	Benign
14	89966082	G	A	G89966082A	TDP1	NM_018319.4(TDP1):c.560-65G>A	noncoding	Benign
14	89966271	C	T	C89966271T	TDP1	NM_018319.4(TDP1):c.603+81C>T	noncoding	Benign
14	89966308	A	G	A89966308G	TDP1	NM_018319.4(TDP1):c.603+118A>G	noncoding	Benign
14	89971399	T	C	T89971399C	TDP1	NM_018319.4(TDP1):c.756+128T>C	noncoding	Benign
14	89971536	G	C	G89971536C	TDP1	NM_018319.4(TDP1):c.756+265G>C	noncoding	Benign
14	89975587	T	G	T89975587G	TDP1	NM_018319.4(TDP1):c.757-194T>G	noncoding	Benign
14	89975798	G	A	G89975798A	TDP1	NM_018319.4(TDP1):c.774G>A:p.Ala258=	coding	Benign/Likely_benign
14	89975853	A	G	A89975853G	TDP1	NM_018319.4(TDP1):c.791+38A>G	noncoding	Benign
14	89975867	A	G	A89975867G	TDP1	NM_018319.4(TDP1):c.791+52A>G	noncoding	Benign
14	89975873	C	T	C89975873T	TDP1	NM_018319.4(TDP1):c.791+58C>T	noncoding	Benign
14	89975970	C	T	C89975970T	TDP1	NM_018319.4(TDP1):c.791+155C>T	noncoding	Benign
14	89980459	A	G	A89980459G	TDP1	NM_018319.4(TDP1):c.792-81A>G	noncoding	Benign
14	89980488	A	G	A89980488G	TDP1	NM_018319.4(TDP1):c.792-52A>G	noncoding	Benign
14	89984365	T	G	T89984365G	TDP1	NM_018319.4(TDP1):c.885-151T>G	noncoding	Benign
14	89984889	A	T	A89984889T	TDP1	NM_018319.4(TDP1):c.1052+206A>T	noncoding	Benign
14	89984959	A	G	A89984959G	TDP1	NM_018319.4(TDP1):c.1053-173A>G	noncoding	Benign
14	89985201	A	G	A89985201G	TDP1	NM_018319.4(TDP1):c.1122A>G:p.Arg374=	coding	Benign
14	89985248	T	A	T89985248A	TDP1	NM_018319.4(TDP1):c.1131+38T>A	noncoding	Benign
14	89988695	C	T	C89988695T	TDP1	NM_018319.4(TDP1):c.1132-210C>T	noncoding	Benign
14	89989116	G	A	G89989116A	TDP1	NM_018319.4(TDP1):c.1317+26G>A	noncoding	Benign
14	89989554	A	G	A89989554G	TDP1	NM_018319.4(TDP1):c.1318-163A>G	noncoding	Benign
14	89989687	C	T	C89989687T	TDP1	NM_018319.4(TDP1):c.1318-30C>T	noncoding	Benign
14	89989843	C	G	C89989843G	TDP1	NM_018319.4(TDP1):c.1366+78C>G	noncoding	Benign
14	89989844	G	T	G89989844T	TDP1	NM_018319.4(TDP1):c.1366+79G>T	noncoding	Benign
14	89991839	T	A	T89991839A	TDP1	NM_018319.4(TDP1):c.1367-78T>A	noncoding	Benign
14	89993225	T	C	T89993225C	TDP1	NM_018319.4(TDP1):c.1434-151T>C	noncoding	Benign
14	90032980	C	G	C90032980G	TDP1	NM_018319.4(TDP1):c.1645-126C>G	noncoding	Benign
14	90263727	C	T	C90263727T	PSMC1	NM_002802.3(PSMC1):c.345C>T:p.Ile115=	coding	Benign
14	90269498	T	C	T90269498C	PSMC1	NM_002802.3(PSMC1):c.983T>C:p.Ile328Thr	coding	Pathogenic
14	90396691	G	T	G90396691T	CALM1	NM_001363669.2(CALM1):c.-106+33G>T	noncoding	Benign
14	90396841	C	T	C90396841T	CALM1	NM_001363669.2(CALM1):c.-106+183C>T	noncoding	Benign
14	90396859	G	T	G90396859T	CALM1	NM_001363669.2(CALM1):c.-106+201G>T	noncoding	Benign
14	90397013	C	T	C90397013T	CALM1	NM_006888.5(CALM1):c.-218C>T	noncoding	Benign
14	90401420	A	G	A90401420G	CALM1	NM_006888.6(CALM1):c.178+18A>G	noncoding	Benign/Likely_benign
14	90403754	T	C	T90403754C	CALM1	NM_006888.6(CALM1):c.179-108T>C	noncoding	Benign
14	90404689	A	G	A90404689G	CALM1	NM_006888.6(CALM1):c.422A>G:p.Glu141Gly	coding	Pathogenic
14	90404689	A	T	A90404689T	CALM1	NM_006888.6(CALM1):c.422A>T:p.Glu141Val	coding	Pathogenic
14	90404691	T	C	T90404691C	CALM1	NM_006888.6(CALM1):c.424T>C:p.Phe142Leu	coding	Pathogenic/Likely_pathogenic
14	91234502	G	A	G91234502A	GPR68	NM_001177676.2(GPR68):c.549C>T:p.Arg183=	coding	Benign
14	91234937	G	A	G91234937A	GPR68	NM_001177676.2(GPR68):c.114C>T:p.Ala38=	coding	Benign
14	91277889	G	C	G91277889C	CCDC88C	NM_001080414.4(CCDC88C):c.5058+33C>G	noncoding	Benign
14	91279451	C	G	C91279451G	CCDC88C	NM_001080414.4(CCDC88C):c.4700-145G>C	noncoding	Benign
14	91281561	G	A	G91281561A	CCDC88C	NM_001080414.4(CCDC88C):c.4631-36C>T	noncoding	Benign
14	91281575	C	T	C91281575T	CCDC88C	NM_001080414.4(CCDC88C):c.4631-50G>A	noncoding	Benign
14	91283251	C	A	C91283251A	CCDC88C	NM_001080414.4(CCDC88C):c.4630+78G>T	noncoding	Benign
14	91289219	C	T	C91289219T	CCDC88C	NM_001080414.4(CCDC88C):c.4327G>A:p.Ala1443Thr	coding	Benign/Likely_benign
14	91289281	G	A	G91289281A	CCDC88C	NM_001080414.4(CCDC88C):c.4265C>T:p.Ser1422Leu	coding	Benign/Likely_benign
14	91291198	T	C	T91291198C	CCDC88C	NM_001080414.4(CCDC88C):c.4113-114A>G	noncoding	Benign
14	91305726	G	A	G91305726A	CCDC88C	NM_001080414.4(CCDC88C):c.3357+39C>T	noncoding	Benign
14	91305965	T	G	T91305965G	CCDC88C	NM_001080414.4(CCDC88C):c.3196-39A>C	noncoding	Benign
14	91310081	C	T	C91310081T	CCDC88C	NM_001080414.4(CCDC88C):c.2737-95G>A	noncoding	Benign
14	91310090	G	A	G91310090A	CCDC88C	NM_001080414.4(CCDC88C):c.2737-104C>T	noncoding	Benign
14	91310207	A	G	A91310207G	CCDC88C	NM_001080414.4(CCDC88C):c.2737-221T>C	noncoding	Benign
14	91312841	C	T	C91312841T	CCDC88C	NM_001080414.4(CCDC88C):c.2736+239G>A	noncoding	Benign
14	91312998	T	C	T91312998C	CCDC88C	NM_001080414.4(CCDC88C):c.2736+82A>G	noncoding	Benign
14	91313060	C	G	C91313060G	CCDC88C	NM_001080414.4(CCDC88C):c.2736+20G>C	noncoding	Benign
14	91313064	G	A	G91313064A	CCDC88C	NM_001080414.4(CCDC88C):c.2736+16C>T	noncoding	Benign
14	91315791	C	T	C91315791T	CCDC88C	NM_001080414.4(CCDC88C):c.1528-4G>A	noncoding	Benign
14	91320953	A	G	A91320953G	CCDC88C	NM_001080414.4(CCDC88C):c.1527+167T>C	noncoding	Benign
14	91320992	T	C	T91320992C	CCDC88C	NM_001080414.4(CCDC88C):c.1527+128A>G	noncoding	Benign
14	91321077	A	G	A91321077G	CCDC88C	NM_001080414.4(CCDC88C):c.1527+43T>C	noncoding	Benign
14	91324957	T	C	T91324957C	CCDC88C	NM_001080414.4(CCDC88C):c.1198-34A>G	noncoding	Benign
14	91339460	C	T	C91339460T	CCDC88C	NM_001080414.4(CCDC88C):c.627G>A:p.Leu209=	coding	Benign
14	91339860	C	A	C91339860A	CCDC88C	NM_001080414.4(CCDC88C):c.624+24G>T	noncoding	Benign
14	91340168	G	T	G91340168T	CCDC88C	NM_001080414.4(CCDC88C):c.484-144C>A	noncoding	Benign
14	91340244	T	C	T91340244C	CCDC88C	NM_001080414.4(CCDC88C):c.484-220A>G	noncoding	Benign
14	91342346	C	T	C91342346T	CCDC88C	NM_001080414.4(CCDC88C):c.483+34G>A	noncoding	Benign
14	91342510	T	C	T91342510C	CCDC88C	NM_001080414.4(CCDC88C):c.400-47A>G	noncoding	Benign
14	91408612	T	C	T91408612C	CCDC88C	NM_001080414.4(CCDC88C):c.270+47A>G	noncoding	Benign
14	91416923	A	C	A91416923C	CCDC88C	NM_001080414.4(CCDC88C):c.61-85T>G	noncoding	Benign
14	91416923	A	G	A91416923G	CCDC88C	NM_001080414.4(CCDC88C):c.61-85T>C	noncoding	Benign
14	91417020	C	A	C91417020A	CCDC88C	NM_001080414.4(CCDC88C):c.61-182G>T	noncoding	Benign
14	91417772	C	A	C91417772A	CCDC88C	NM_001080414.4(CCDC88C):c.-82G>T	noncoding	Benign
14	91418026	G	T	G91418026T	CCDC88C	Single_allele	noncoding	Benign
14	91475932	G	A	G91475932A	PPP4R3A	NM_001366432.2(PPP4R3A):c.1145C>T:p.Thr382Ile	coding	Benign
14	91870431	T	C	T91870431C	FBLN5	NM_006329.4(FBLN5):c.1186-46A>G	noncoding	Benign
14	91877420	C	T	C91877420T	FBLN5	NM_006329.4(FBLN5):c.1185+67G>A	noncoding	Benign
14	91877538	A	C	A91877538C	FBLN5	NM_006329.4(FBLN5):c.1134T>G:p.Tyr378Ter	coding	Pathogenic
14	91877701	C	G	C91877701G	FBLN5	NM_006329.4(FBLN5):c.990-19G>C	noncoding	Benign
14	91877900	T	C	T91877900C	FBLN5	NM_006329.4(FBLN5):c.990-218A>G	noncoding	Benign
14	91877905	T	G	T91877905G	FBLN5	NM_006329.4(FBLN5):c.990-223A>C	noncoding	Benign
14	91881146	C	T	C91881146T	FBLN5	NM_006329.4(FBLN5):c.989+146G>A	noncoding	Benign
14	91881295	T	A	T91881295A	FBLN5	NM_006329.4(FBLN5):c.986A>T:p.Asp329Val	coding	Pathogenic
14	91937316	T	C	T91937316C	FBLN5	NM_006329.4(FBLN5):c.125-115A>G	noncoding	Benign
14	91942759	T	C	T91942759C	FBLN5	NM_006329.4(FBLN5):c.72+148A>G	noncoding	Benign
14	91942989	T	C	T91942989C	FBLN5	NM_006329.4(FBLN5):c.18-28A>G	noncoding	Benign
14	91943180	T	C	T91943180C	FBLN5	NM_006329.4(FBLN5):c.18-219A>G	noncoding	Benign
14	91947055	A	T	A91947055T	FBLN5	NM_006329.4(FBLN5):c.17+158T>A	noncoding	Benign
14	91970069	T	C	T91970069C	TRIP11	NM_004239.4(TRIP11):c.5720-176A>G	noncoding	Benign
14	91970172	T	C	T91970172C	TRIP11	NM_004239.4(TRIP11):c.5720-279A>G	noncoding	Benign
14	91970236	G	A	G91970236A	TRIP11	NM_004239.4(TRIP11):c.5720-343C>T	noncoding	Benign
14	91974541	T	A	T91974541A	TRIP11	NM_004239.4(TRIP11):c.5574+86A>T	noncoding	Benign
14	91974542	A	T	A91974542T	TRIP11	NM_004239.4(TRIP11):c.5574+85T>A	noncoding	Benign
14	91974562	G	C	G91974562C	TRIP11	NM_004239.4(TRIP11):c.5574+65C>G	noncoding	Benign
14	91974603	A	G	A91974603G	TRIP11	NM_004239.4(TRIP11):c.5574+24T>C	noncoding	Benign
14	91974933	C	T	C91974933T	TRIP11	NM_004239.4(TRIP11):c.5458-190G>A	noncoding	Benign
14	91975091	A	T	A91975091T	TRIP11	NM_004239.4(TRIP11):c.5457+81T>A	noncoding	Pathogenic
14	91975209	C	A	C91975209A	TRIP11	NM_004239.4(TRIP11):c.5420G>T:p.Gly1807Val	coding	Pathogenic
14	91975422	T	C	T91975422C	TRIP11	NM_004239.4(TRIP11):c.5343-136A>G	noncoding	Benign
14	91975915	C	T	C91975915T	TRIP11	NM_004239.4(TRIP11):c.5342+193G>A	noncoding	Benign
14	91988260	A	G	A91988260G	TRIP11	NM_004239.4(TRIP11):c.5260+24T>C	noncoding	Benign
14	91988404	A	T	A91988404T	TRIP11	NM_004239.4(TRIP11):c.5161-21T>A	noncoding	Benign
14	91993754	C	A	C91993754A	TRIP11	NM_004239.4(TRIP11):c.5160+55G>T	noncoding	Benign
14	91993844	C	T	C91993844T	TRIP11	NM_004239.4(TRIP11):c.5125G>A:p.Ala1709Thr	coding	Benign/Likely_benign
14	91994058	C	T	C91994058T	TRIP11	NM_004239.4(TRIP11):c.5057-146G>A	noncoding	Benign
14	91995341	G	A	G91995341A	TRIP11	NM_004239.4(TRIP11):c.5056+11C>T	noncoding	Benign/Likely_benign
14	91999002	A	G	A91999002G	TRIP11	NM_004239.4(TRIP11):c.4892+238T>C	noncoding	Benign
14	92003122	A	G	A92003122G	TRIP11	NM_004239.4(TRIP11):c.4557+297T>C	noncoding	Benign
14	92003176	A	C	A92003176C	TRIP11	NM_004239.4(TRIP11):c.4557+243T>G	noncoding	Benign
14	92003476	G	A	G92003476A	TRIP11	NM_004239.4(TRIP11):c.4500C>T:p.Cys1500=	coding	Benign/Likely_benign
14	92005194	G	A	G92005194A	TRIP11	NM_004239.4(TRIP11):c.2782C>T:p.Gln928Ter	coding	Pathogenic
14	92005365	G	A	G92005365A	TRIP11	NM_004239.4(TRIP11):c.2611C>T:p.Arg871Ter	coding	Pathogenic
14	92005621	C	T	C92005621T	TRIP11	NM_004239.4(TRIP11):c.2355G>A:p.Met785Ile	coding	Benign
14	92006241	G	A	G92006241A	TRIP11	NM_004239.4(TRIP11):c.1735C>T:p.Gln579Ter	coding	Pathogenic
14	92007599	T	C	T92007599C	TRIP11	NM_004239.4(TRIP11):c.1527+41A>G	noncoding	Benign
14	92007735	C	T	C92007735T	TRIP11	NM_004239.4(TRIP11):c.1432G>A:p.Ala478Thr	coding	Benign/Likely_benign
14	92014167	A	C	A92014167C	TRIP11	NM_004239.4(TRIP11):c.1186+48T>G	noncoding	Benign
14	92014303	C	T	C92014303T	TRIP11	NM_004239.4(TRIP11):c.1098G>A:p.Lys366=	coding	Benign
14	92014598	A	C	A92014598C	TRIP11	NM_004239.4(TRIP11):c.824-21T>G	noncoding	Benign
14	92015756	G	A	G92015756A	TRIP11	NM_004239.4(TRIP11):c.763C>T:p.Arg255Ter	coding	Pathogenic
14	92015910	T	C	T92015910C	TRIP11	NM_004239.4(TRIP11):c.658-49A>G	noncoding	Benign
14	92016172	A	T	A92016172T	TRIP11	NM_004239.4(TRIP11):c.658-311T>A	noncoding	Benign
14	92021568	C	G	C92021568G	TRIP11	NM_004239.4(TRIP11):c.576G>C:p.Arg192Ser	coding	Benign
14	92021618	G	A	G92021618A	TRIP11	NM_004239.4(TRIP11):c.526C>T:p.Arg176Ter	coding	Pathogenic
14	92025509	T	C	T92025509C	TRIP11	NM_004239.4(TRIP11):c.202-89A>G	noncoding	Benign
14	92033467	C	T	C92033467T	TRIP11	NM_004239.4(TRIP11):c.140-214G>A	noncoding	Benign
14	92071043	T	G	T92071043G	ATXN3	NM_004993.6(ATXN3):c.883A>C:p.Lys295Gln	coding	Benign
14	92071044	T	C	T92071044C	ATXN3	NM_004993.6(ATXN3):c.882A>G:p.Gln294=	coding	Benign
14	92323733	A	G	A92323733G	SLC24A4	NM_153646.4(SLC24A4):c.-98A>G	noncoding	Benign
14	92324169	G	T	G92324169T	SLC24A4	NM_153646.4(SLC24A4):c.130+209G>T	noncoding	Benign
14	92325547	C	T	C92325547T	SLC24A4	NM_153646.4(SLC24A4):c.131-321C>T	noncoding	Benign
14	92325911	G	A	G92325911A	SLC24A4	NM_153646.4(SLC24A4):c.174G>A:p.Thr58=	coding	Benign
14	92326088	T	C	T92326088C	SLC24A4	NM_153646.4(SLC24A4):c.241+110T>C	noncoding	Benign
14	92326260	C	T	C92326260T	SLC24A4	NM_153646.4(SLC24A4):c.241+282C>T	noncoding	Benign
14	92326295	T	C	T92326295C	SLC24A4	NM_153646.4(SLC24A4):c.241+317T>C	noncoding	Benign
14	92434161	A	T	A92434161T	SLC24A4	NM_153646.4(SLC24A4):c.318+173A>T	noncoding	Benign
14	92439473	A	G	A92439473G	SLC24A4	NM_153646.4(SLC24A4):c.393+64A>G	noncoding	Benign
14	92442729	T	C	T92442729C	SLC24A4	NM_153646.4(SLC24A4):c.495T>C:p.His165=	coding	Benign
14	92442965	T	C	T92442965C	SLC24A4	NM_153646.4(SLC24A4):c.582+149T>C	noncoding	Benign
14	92443208	T	C	T92443208C	SLC24A4	NM_153646.4(SLC24A4):c.583-192T>C	noncoding	Benign
14	92443430	C	T	C92443430T	SLC24A4	NM_153646.4(SLC24A4):c.613C>T:p.Arg205Ter	coding	Pathogenic
14	92445007	G	A	G92445007A	SLC24A4	NM_153646.4(SLC24A4):c.658-310G>A	noncoding	Benign
14	92445066	C	G	C92445066G	SLC24A4	NM_153646.4(SLC24A4):c.658-251C>G	noncoding	Benign
14	92453693	C	T	C92453693T	SLC24A4	NM_153646.4(SLC24A4):c.881-207C>T	noncoding	Benign
14	92456369	T	C	T92456369C	SLC24A4	NM_153646.4(SLC24A4):c.1051-35T>C	noncoding	Benign
14	92456676	C	T	C92456676T	SLC24A4	NM_153646.4(SLC24A4):c.1255+68C>T	noncoding	Benign
14	92456688	G	A	G92456688A	SLC24A4	NM_153646.4(SLC24A4):c.1255+80G>A	noncoding	Benign
14	92482402	G	C	G92482402C	SLC24A4	NM_153646.4(SLC24A4):c.1256-278G>C	noncoding	Benign
14	92486336	C	T	C92486336T	SLC24A4	NM_153646.4(SLC24A4):c.1423-330C>T	noncoding	Benign
14	92486494	C	A	C92486494A	SLC24A4	NM_153646.4(SLC24A4):c.1423-172C>A	noncoding	Benign
14	92492054	A	G	A92492054G	SLC24A4	NM_153646.4(SLC24A4):c.1651-121A>G	noncoding	Benign
14	92492178	A	C	A92492178C	SLC24A4	NM_153646.4(SLC24A4):c.1654A>C:p.Lys552Gln	coding	Benign
14	92492268	G	A	G92492268A	SLC24A4	NM_153646.4(SLC24A4):c.1716+28G>A	noncoding	Benign
14	92493681	T	C	T92493681C	SLC24A4	NM_153646.4(SLC24A4):c.*53T>C	noncoding	Benign
14	92493804	C	T	C92493804T	SLC24A4	NM_153646.4(SLC24A4):c.*176C>T	noncoding	Benign
14	92493894	A	G	A92493894G	SLC24A4	NM_153646.4(SLC24A4):c.*266A>G	noncoding	Benign
14	93186294	C	T	C93186294T	TMEM251	NM_001098621.4(TMEM251):c.115C>T:p.Arg39Trp	coding	Pathogenic
14	93207017	G	T	G93207017T	GON7	NM_032490.5(GON7):c.21C>A:p.Tyr7Ter	coding	Pathogenic
14	93207328	G	T	G93207328T	UBR7	NM_175748.4(UBR7):c.37G>T:p.Glu13Ter	coding	Pathogenic
14	93215174	A	G	A93215174G	UBR7	NM_175748.4(UBR7):c.496-2A>G	noncoding	Pathogenic
14	93226942	G	C	G93226942C	UBR7	NM_175748.4(UBR7):c.1186-1G>C	noncoding	Pathogenic
14	93779329	C	T	C93779329T	PRIMA1	NM_178013.4(PRIMA1):c.94-18G>A	noncoding	Benign
14	94314271	G	A	G94314271A	SERPINA6	NM_001756.4(SERPINA6):c.378C>T:p.Thr126=	coding	Benign
14	94314617	C	T	C94314617T	SERPINA6	NM_001756.4(SERPINA6):c.32G>A:p.Trp11Ter	coding	Pathogenic
14	94377118	C	T	C94377118T	SERPINA1	NM_000295.5(SERPINA1):c.*1331G>A	noncoding	Benign/Likely_benign
14	94379500	G	A	G94379500A	SERPINA1	NM_000295.5(SERPINA1):c.1029C>T:p.Ser343=	coding	Benign
14	94380555	G	A	G94380555A	SERPINA1	NM_000295.5(SERPINA1):c.917+316C>T	noncoding	Benign
14	94380606	A	G	A94380606G	SERPINA1	NM_000295.5(SERPINA1):c.917+265T>C	noncoding	Benign
14	94381210	A	G	A94381210G	SERPINA1	NM_000295.5(SERPINA1):c.647-69T>C	noncoding	Benign
14	94381212	A	G	A94381212G	SERPINA1	NM_000295.5(SERPINA1):c.647-71T>C	noncoding	Benign
14	94382591	C	A	C94382591A	SERPINA1	NM_000295.5(SERPINA1):c.646+1G>T	noncoding	Pathogenic/Likely_pathogenic
14	94382686	G	C	G94382686C	SERPINA1	NM_000295.5(SERPINA1):c.552C>G:p.Tyr184Ter	coding	Pathogenic/Likely_pathogenic
14	94383545	T	C	T94383545C	SERPINA1	NM_000295.5(SERPINA1):c.-4-304A>G	noncoding	Benign
14	94768772	C	A	C94768772A	GSC	NM_173849.3(GSC):c.616-123G>T	noncoding	Benign
14	94769403	G	A	G94769403A	GSC	NM_173849.3(GSC):c.356-186C>T	noncoding	Benign
14	94769842	G	A	G94769842A	GSC	NM_173849.3(GSC):c.174C>T:p.Tyr58=	coding	Benign
14	94769908	C	T	C94769908T	GSC	NM_173849.3(GSC):c.108G>A:p.Pro36=	coding	Benign
14	94770233	G	A	G94770233A	GSC	Single_allele	noncoding	Benign
14	94770370	G	A	G94770370A	GSC	Single_allele	noncoding	Benign
14	95093496	C	A	C95093496A	DICER1	NM_177438.3(DICER1):c.5364+392G>T	noncoding	Benign
14	95093521	A	G	A95093521G	DICER1	NM_177438.3(DICER1):c.5364+367T>C	noncoding	Benign
14	95093868	T	A	T95093868A	DICER1	NM_177438.3(DICER1):c.5364+20A>T	noncoding	Benign
14	95093926	G	A	G95093926A	DICER1	NM_177438.3(DICER1):c.5326C>T:p.Gln1776Ter	coding	Pathogenic
14	95093932	G	A	G95093932A	DICER1	NM_177438.3(DICER1):c.5320C>T:p.Gln1774Ter	coding	Pathogenic
14	95094062	C	T	C95094062T	DICER1	NM_177438.3(DICER1):c.5190G>A:p.Gly1730=	coding	Benign/Likely_benign
14	95094076	G	A	G95094076A	DICER1	NM_177438.3(DICER1):c.5176C>T:p.Gln1726Ter	coding	Pathogenic
14	95094288	A	G	A95094288G	DICER1	NM_177438.3(DICER1):c.5096-132T>C	noncoding	Benign
14	95095844	G	C	G95095844C	DICER1	NM_177438.3(DICER1):c.5076C>G:p.Tyr1692Ter	coding	Pathogenic
14	95095874	G	C	G95095874C	DICER1	NM_177438.3(DICER1):c.5046C>G:p.Tyr1682Ter	coding	Pathogenic
14	95095894	T	A	T95095894A	DICER1	NM_177438.3(DICER1):c.5026A>T:p.Arg1676Ter	coding	Pathogenic
14	95096029	A	C	A95096029C	DICER1	NM_177438.3(DICER1):c.4891T>G:p.Ser1631Ala	coding	Benign/Likely_benign
14	95096083	G	A	G95096083A	DICER1	NM_177438.3(DICER1):c.4837C>T:p.Gln1613Ter	coding	Pathogenic
14	95096182	G	A	G95096182A	DICER1	NM_177438.3(DICER1):c.4738C>T:p.Gln1580Ter	coding	Pathogenic
14	95096337	C	T	C95096337T	DICER1	NM_177438.3(DICER1):c.4583G>A:p.Trp1528Ter	coding	Pathogenic
14	95096362	C	A	C95096362A	DICER1	NM_177438.3(DICER1):c.4558G>T:p.Glu1520Ter	coding	Pathogenic
14	95096478	C	T	C95096478T	DICER1	NM_177438.3(DICER1):c.4442G>A:p.Trp1481Ter	coding	Pathogenic/Likely_pathogenic
14	95096669	G	A	G95096669A	DICER1	NM_177438.3(DICER1):c.4251C>T:p.Tyr1417=	coding	Benign/Likely_benign
14	95096669	G	C	G95096669C	DICER1	NM_177438.3(DICER1):c.4251C>G:p.Tyr1417Ter	coding	Pathogenic
14	95096693	C	T	C95096693T	DICER1	NM_177438.3(DICER1):c.4227G>A:p.Ala1409=	coding	Benign/Likely_benign
14	95103338	T	C	T95103338C	DICER1	NM_177438.3(DICER1):c.4050+8A>G	noncoding	Benign/Likely_benign
14	95103344	A	G	A95103344G	DICER1	NM_177438.3(DICER1):c.4050+2T>C	noncoding	Pathogenic
14	95103382	C	T	C95103382T	DICER1	NM_177438.3(DICER1):c.4014G>A:p.Ala1338=	coding	Benign/Likely_benign
14	95103428	A	C	A95103428C	DICER1	NM_177438.3(DICER1):c.3968T>G:p.Leu1323Ter	coding	Pathogenic
14	95103494	A	T	A95103494T	DICER1	NM_177438.3(DICER1):c.3902T>A:p.Leu1301Ter	coding	Pathogenic
14	95103604	C	T	C95103604T	DICER1	NM_177438.3(DICER1):c.3792G>A:p.Thr1264=	coding	Benign/Likely_benign
14	95103993	G	A	G95103993A	DICER1	NM_177438.3(DICER1):c.3403C>T:p.Gln1135Ter	coding	Pathogenic
14	95104004	T	C	T95104004C	DICER1	NM_177438.3(DICER1):c.3392A>G:p.Asn1131Ser	coding	Benign/Likely_benign
14	95104070	G	C	G95104070C	DICER1	NM_177438.3(DICER1):c.3326C>G:p.Ser1109Ter	coding	Pathogenic
14	95104127	C	G	C95104127G	DICER1	NM_177438.3(DICER1):c.3270-1G>C	coding	Pathogenic/Likely_pathogenic
14	95105055	G	C	G95105055C	DICER1	NM_177438.3(DICER1):c.3269+16C>G	noncoding	Benign
14	95105072	T	A	T95105072A	DICER1	NM_177438.3(DICER1):c.3268A>T:p.Arg1090Ter	coding	Pathogenic
14	95105689	G	A	G95105689A	DICER1	NM_177438.3(DICER1):c.3082C>T:p.Gln1028Ter	coding	Pathogenic
14	95105785	T	C	T95105785C	DICER1	NM_177438.3(DICER1):c.2988-2A>G	noncoding	Pathogenic/Likely_pathogenic
14	95106040	C	T	C95106040T	DICER1	NM_177438.3(DICER1):c.2987+1G>A	noncoding	Pathogenic/Likely_pathogenic
14	95106112	A	C	A95106112C	DICER1	NM_177438.3(DICER1):c.2916T>G:p.Tyr972Ter	coding	Pathogenic
14	95106175	G	C	G95106175C	DICER1	NM_177438.3(DICER1):c.2853C>G:p.Tyr951Ter	coding	Pathogenic
14	95106190	A	C	A95106190C	DICER1	NM_177438.3(DICER1):c.2838T>G:p.Tyr946Ter	coding	Pathogenic
14	95107763	T	C	T95107763C	DICER1	NM_177438.3(DICER1):c.2651-2A>G	noncoding	Pathogenic
14	95107863	A	G	A95107863G	DICER1	NM_177438.3(DICER1):c.2650+17T>C	noncoding	Benign
14	95108042	C	A	C95108042A	DICER1	NM_177438.3(DICER1):c.2488G>T:p.Glu830Ter	coding	Pathogenic
14	95108206	T	A	T95108206A	DICER1	NM_177438.3(DICER1):c.2437-113A>T	noncoding	Benign
14	95108381	A	C	A95108381C	DICER1	NM_177438.3(DICER1):c.2379T>G:p.Tyr793Ter	coding	Pathogenic/Likely_pathogenic
14	95108430	A	C	A95108430C	DICER1	NM_177438.3(DICER1):c.2330T>G:p.Leu777Ter	coding	Pathogenic
14	95108700	G	A	G95108700A	DICER1	NM_177438.3(DICER1):c.2257-197C>T	noncoding	Benign
14	95111376	C	A	C95111376A	DICER1	NM_177438.3(DICER1):c.2197G>T:p.Glu733Ter	coding	Pathogenic
14	95111382	C	A	C95111382A	DICER1	NM_177438.3(DICER1):c.2191G>T:p.Glu731Ter	coding	Pathogenic
14	95111519	T	G	T95111519G	DICER1	NM_177438.3(DICER1):c.2117-63A>C	noncoding	Benign
14	95112852	A	C	A95112852C	DICER1	NM_177438.3(DICER1):c.2040+240T>G	noncoding	Benign
14	95115327	G	A	G95115327A	DICER1	NM_177438.3(DICER1):c.1907+340C>T	noncoding	Benign
14	95115624	G	A	G95115624A	DICER1	NM_177438.3(DICER1):c.1907+43C>T	noncoding	Benign
14	95115747	G	A	G95115747A	DICER1	NM_177438.3(DICER1):c.1827C>T:p.Asp609=	coding	Benign/Likely_benign
14	95115864	C	T	C95115864T	DICER1	NM_177438.3(DICER1):c.1753-43G>A	noncoding	Benign
14	95116524	T	C	T95116524C	DICER1	NM_177438.3(DICER1):c.1681A>G:p.Ile561Val	coding	Benign/Likely_benign
14	95117621	C	T	C95117621T	DICER1	NM_177438.3(DICER1):c.1509+1G>A	noncoding	Pathogenic
14	95117758	A	C	A95117758C	DICER1	NM_177438.3(DICER1):c.1377-4T>G	noncoding	Benign/Likely_benign
14	95123901	G	A	G95123901A	DICER1	NM_177438.3(DICER1):c.1376+295C>T	noncoding	Benign
14	95124243	G	A	G95124243A	DICER1	NM_177438.3(DICER1):c.1329C>T:p.Cys443=	coding	Benign/Likely_benign
14	95124345	A	C	A95124345C	DICER1	NM_177438.3(DICER1):c.1227T>G:p.Tyr409Ter	coding	Pathogenic
14	95124429	G	A	G95124429A	DICER1	NM_177438.3(DICER1):c.1143C>T:p.Leu381=	coding	Benign/Likely_benign
14	95124624	C	T	C95124624T	DICER1	NM_177438.3(DICER1):c.948G>A:p.Trp316Ter	coding	Pathogenic
14	95124733	G	A	G95124733A	DICER1	NM_177438.3(DICER1):c.904-65C>T	noncoding	Benign
14	95126271	T	C	T95126271C	DICER1	NM_177438.3(DICER1):c.903+309A>G	noncoding	Benign
14	95126822	C	A	C95126822A	DICER1	NM_177438.3(DICER1):c.735-74G>T	noncoding	Benign
14	95126948	T	C	T95126948C	DICER1	NM_177438.3(DICER1):c.735-200A>G	noncoding	Benign
14	95129261	A	G	A95129261G	DICER1	NM_177438.3(DICER1):c.734+211T>C	noncoding	Benign
14	95129942	G	A	G95129942A	DICER1	NM_177438.3(DICER1):c.573+116C>T	noncoding	Benign
14	95131549	C	T	C95131549T	DICER1	NM_177438.3(DICER1):c.398G>A:p.Trp133Ter	coding	Pathogenic
14	95131581	C	T	C95131581T	DICER1	NM_177438.3(DICER1):c.366G>A:p.Gly122=	coding	Benign/Likely_benign
14	95131622	G	A	G95131622A	DICER1	NM_177438.3(DICER1):c.325C>T:p.Gln109Ter	coding	Pathogenic
14	95132270	T	C	T95132270C	DICER1	NM_177438.3(DICER1):c.307+245A>G	noncoding	Benign
14	95132328	G	C	G95132328C	DICER1	NM_177438.3(DICER1):c.307+187C>G	noncoding	Benign
14	95132498	A	C	A95132498C	DICER1	NM_177438.3(DICER1):c.307+17T>G	noncoding	Benign/Likely_benign
14	95132572	G	A	G95132572A	DICER1	NM_177438.3(DICER1):c.250C>T:p.Gln84Ter	coding	Pathogenic
14	95132886	C	T	C95132886T	DICER1	NM_177438.3(DICER1):c.145-209G>A	noncoding	Benign
14	95133669	G	C	G95133669C	DICER1	NM_177438.3(DICER1):c.-45-166C>G	noncoding	Benign
14	95133735	T	G	T95133735G	DICER1	NM_177438.3(DICER1):c.-45-232A>C	noncoding	Benign
14	95157454	C	T	C95157454T	DICER1	NM_177438.3(DICER1):c.-270G>A	noncoding	Benign
14	95157456	G	A	G95157456A	DICER1	NM_177438.3(DICER1):c.-272C>T	noncoding	Benign
14	95534834	G	A	G95534834A	GLRX5	NR_001459.2(SNHG10):n.39C>T	noncoding	Benign
14	95535103	T	C	T95535103C	GLRX5	NM_016417.3(GLRX5):c.14T>C:p.Leu5Pro	coding	Benign
14	95535286	A	C	A95535286C	GLRX5	NM_016417.3(GLRX5):c.197A>C:p.Gln66Pro	coding	Pathogenic
14	95544252	G	A	G95544252A	GLRX5	NM_016417.3(GLRX5):c.*127G>A	noncoding	Benign
14	96286218	C	T	C96286218T	ATG2B	NM_018036.7(ATG2B):c.6007-233G>A	noncoding	Benign
14	96286247	G	A	G96286247A	ATG2B	NM_018036.7(ATG2B):c.6007-262C>T	noncoding	Benign
14	96289382	G	A	G96289382A	ATG2B	NM_018036.7(ATG2B):c.6006+274C>T	noncoding	Benign
14	96289472	A	G	A96289472G	ATG2B	NM_018036.7(ATG2B):c.6006+184T>C	noncoding	Benign
14	96289988	A	T	A96289988T	ATG2B	NM_018036.7(ATG2B):c.5857-183T>A	noncoding	Benign
14	96290636	T	C	T96290636C	ATG2B	NM_018036.7(ATG2B):c.5702-46A>G	noncoding	Benign
14	96291024	T	A	T96291024A	ATG2B	NM_018036.7(ATG2B):c.5580-89A>T	noncoding	Benign
14	96291823	C	T	C96291823T	ATG2B	NM_018036.7(ATG2B):c.5497-141G>A	noncoding	Benign
14	96292328	G	A	G96292328A	ATG2B	NM_018036.7(ATG2B):c.5427-230C>T	noncoding	Benign
14	96294749	G	C	G96294749C	ATG2B	NM_018036.7(ATG2B):c.5426+211C>G	noncoding	Benign
14	96295177	T	A	T96295177A	ATG2B	NM_018036.7(ATG2B):c.5219-10A>T	noncoding	Benign
14	96295220	A	C	A96295220C	ATG2B	NM_018036.7(ATG2B):c.5219-53T>G	noncoding	Benign
14	96295600	A	G	A96295600G	ATG2B	NM_018036.7(ATG2B):c.5140-40T>C	noncoding	Benign
14	96301979	C	T	C96301979T	ATG2B	NM_018036.7(ATG2B):c.5139+28G>A	noncoding	Benign
14	96302043	T	G	T96302043G	ATG2B	NM_018036.7(ATG2B):c.5103A>C:p.Arg1701Ser	coding	Benign
14	96302088	G	A	G96302088A	ATG2B	NM_018036.7(ATG2B):c.5058C>T:p.His1686=	coding	Benign
14	96302336	C	T	C96302336T	ATG2B	NM_018036.7(ATG2B):c.5038-228G>A	noncoding	Benign
14	96302414	A	T	A96302414T	ATG2B	NM_018036.7(ATG2B):c.5038-306T>A	noncoding	Benign
14	96302896	A	G	A96302896G	ATG2B	NM_018036.7(ATG2B):c.5037+165T>C	noncoding	Benign
14	96303043	G	A	G96303043A	ATG2B	NM_018036.7(ATG2B):c.5037+18C>T	noncoding	Benign
14	96303264	G	A	G96303264A	ATG2B	NM_018036.7(ATG2B):c.4843-9C>T	noncoding	Benign
14	96304383	T	G	T96304383G	ATG2B	NM_018036.7(ATG2B):c.4842+112A>C	noncoding	Benign
14	96304793	C	T	C96304793T	ATG2B	NM_018036.7(ATG2B):c.4734-190G>A	noncoding	Benign
14	96305993	A	C	A96305993C	ATG2B	NM_018036.7(ATG2B):c.4507-178T>G	noncoding	Benign
14	96306570	C	A	C96306570A	ATG2B	NM_018036.7(ATG2B):c.4506+144G>T	noncoding	Benign
14	96306605	C	T	C96306605T	ATG2B	NM_018036.7(ATG2B):c.4506+109G>A	noncoding	Benign
14	96306827	A	G	A96306827G	ATG2B	NM_018036.7(ATG2B):c.4393T>C:p.Ser1465Pro	coding	Benign
14	96306852	G	A	G96306852A	ATG2B	NM_018036.7(ATG2B):c.4368C>T:p.Asp1456=	coding	Benign
14	96307052	C	T	C96307052T	ATG2B	NM_018036.7(ATG2B):c.4304-136G>A	noncoding	Benign
14	96309276	G	T	G96309276T	ATG2B	NM_018036.7(ATG2B):c.4303+177C>A	noncoding	Benign
14	96309671	A	G	A96309671G	ATG2B	NM_018036.7(ATG2B):c.4162-77T>C	noncoding	Benign
14	96311071	T	C	T96311071C	ATG2B	NM_018036.7(ATG2B):c.4161+46A>G	noncoding	Benign
14	96311131	G	C	G96311131C	ATG2B	NM_018036.7(ATG2B):c.4147C>G:p.Gln1383Glu	coding	Benign
14	96311758	T	G	T96311758G	ATG2B	NM_018036.7(ATG2B):c.3914-140A>C	noncoding	Benign
14	96311876	T	C	T96311876C	ATG2B	NM_018036.7(ATG2B):c.3913+213A>G	noncoding	Benign
14	96311912	T	C	T96311912C	ATG2B	NM_018036.7(ATG2B):c.3913+177A>G	noncoding	Benign
14	96313528	C	T	C96313528T	ATG2B	NM_018036.7(ATG2B):c.3643-93G>A	noncoding	Benign
14	96313558	A	G	A96313558G	ATG2B	NM_018036.7(ATG2B):c.3643-123T>C	noncoding	Benign
14	96313709	A	G	A96313709G	ATG2B	NM_018036.7(ATG2B):c.3643-274T>C	noncoding	Benign
14	96315575	T	C	T96315575C	ATG2B	NM_018036.7(ATG2B):c.3370A>G:p.Asn1124Asp	coding	Benign
14	96316271	T	C	T96316271C	ATG2B	NM_018036.7(ATG2B):c.3361+262A>G	noncoding	Benign
14	96316971	G	A	G96316971A	ATG2B	NM_018036.7(ATG2B):c.3210+174C>T	noncoding	Benign
14	96317079	G	A	G96317079A	ATG2B	NM_018036.7(ATG2B):c.3210+66C>T	noncoding	Benign
14	96317390	A	T	A96317390T	ATG2B	NM_018036.7(ATG2B):c.3038-73T>A	noncoding	Benign
14	96317883	T	C	T96317883C	ATG2B	NM_018036.7(ATG2B):c.2880-28A>G	noncoding	Benign
14	96325643	T	C	T96325643C	ATG2B	NM_018036.7(ATG2B):c.2437+6A>G	noncoding	Benign
14	96326239	G	C	G96326239C	ATG2B	NM_018036.7(ATG2B):c.2164-317C>G	noncoding	Benign
14	96329660	G	C	G96329660C	ATG2B	NM_018036.7(ATG2B):c.1731-26C>G	noncoding	Benign
14	96329821	T	G	T96329821G	ATG2B	NM_018036.7(ATG2B):c.1731-187A>C	noncoding	Benign
14	96331136	T	C	T96331136C	ATG2B	NM_018036.7(ATG2B):c.1730+240A>G	noncoding	Benign
14	96331164	T	C	T96331164C	ATG2B	NM_018036.7(ATG2B):c.1730+212A>G	noncoding	Benign
14	96331387	G	A	G96331387A	ATG2B	NM_018036.7(ATG2B):c.1719C>T:p.His573=	coding	Benign
14	96331438	T	C	T96331438C	ATG2B	NM_018036.7(ATG2B):c.1668A>G:p.Ser556=	coding	Benign
14	96331530	G	C	G96331530C	ATG2B	NM_018036.7(ATG2B):c.1576C>G:p.Pro526Ala	coding	Benign
14	96333690	C	T	C96333690T	ATG2B	NM_018036.7(ATG2B):c.1205G>A:p.Arg402His	coding	Benign
14	96334250	C	A	C96334250A	ATG2B	NM_018036.7(ATG2B):c.1021+155G>T	noncoding	Benign
14	96343194	G	A	G96343194A	ATG2B	NM_018036.7(ATG2B):c.669C>T:p.Leu223=	coding	Benign
14	96344797	T	C	T96344797C	ATG2B	NM_018036.7(ATG2B):c.479-41A>G	noncoding	Benign
14	96344994	A	G	A96344994G	ATG2B	NM_018036.7(ATG2B):c.479-238T>C	noncoding	Benign
14	96345327	T	C	T96345327C	ATG2B	NM_018036.7(ATG2B):c.384A>G:p.Ala128=	coding	Benign
14	96345506	A	G	A96345506G	ATG2B	NM_018036.7(ATG2B):c.326-121T>C	noncoding	Benign
14	96347366	A	T	A96347366T	ATG2B	NM_018036.7(ATG2B):c.163-25T>A	noncoding	Benign
14	96347380	C	G	C96347380G	ATG2B	NM_018036.7(ATG2B):c.163-39G>C	noncoding	Benign
14	96362953	G	A	G96362953A	ATG2B	NM_018036.7(ATG2B):c.24C>T:p.Ser8=	coding	Benign
14	96363016	G	A	G96363016A	ATG2B	NM_018036.7(ATG2B):c.-40C>T	noncoding	Benign
14	96363218	G	C	G96363218C	ATG2B	NM_018036.7(ATG2B):c.-242C>G	noncoding	Benign
14	96363513	G	T	G96363513T	ATG2B	Single_allele	noncoding	Benign
14	96363661	G	A	G96363661A	ATG2B	NM_016472.5(GSKIP):c.-103+93G>A	noncoding	Benign
14	96382140	T	C	T96382140C	GSKIP	NM_016472.5(GSKIP):c.-1-107T>C	noncoding	Benign
14	96382562	A	G	A96382562G	GSKIP	NM_016472.5(GSKIP):c.258+57A>G	noncoding	Benign
14	96385734	T	C	T96385734C	GSKIP	NM_016472.5(GSKIP):c.*50T>C	noncoding	Benign
14	96392205	C	A	C96392205A	AK7	NM_152327.5(AK7):c.51C>A:p.Thr17=	coding	Benign
14	96408949	G	A	G96408949A	AK7	NM_152327.5(AK7):c.498+8G>A	noncoding	Benign
14	96420814	T	C	T96420814C	AK7	NM_152327.5(AK7):c.499-8T>C	noncoding	Benign
14	96420830	T	C	T96420830C	AK7	NM_152327.5(AK7):c.507T>C:p.Ser169=	coding	Benign
14	96420945	T	G	T96420945G	AK7	NM_152327.5(AK7):c.609+13T>G	noncoding	Benign
14	96449785	C	T	C96449785T	AK7	NM_152327.5(AK7):c.871-17C>T	noncoding	Benign
14	96451465	G	A	G96451465A	AK7	NM_152327.5(AK7):c.993G>A:p.Ala331=	coding	Benign
14	96451543	G	A	G96451543A	AK7	NM_152327.5(AK7):c.1071G>A:p.Lys357=	coding	Benign
14	96451550	A	G	A96451550G	AK7	NM_152327.5(AK7):c.1078A>G:p.Lys360Glu	coding	Benign
14	96458166	A	G	A96458166G	AK7	NM_152327.5(AK7):c.1311A>G:p.Ala437=	coding	Benign
14	96471488	C	T	C96471488T	AK7	NM_152327.5(AK7):c.1368C>T:p.Asp456=	coding	Benign
14	96472771	T	C	T96472771C	AK7	NM_152327.5(AK7):c.1555+16T>C	noncoding	Benign
14	96478541	G	A	G96478541A	AK7	NM_152327.5(AK7):c.1632G>A:p.Ala544=	coding	Benign
14	96478652	G	A	G96478652A	AK7	NM_152327.5(AK7):c.1743G>A:p.Pro581=	coding	Benign
14	96487075	A	T	A96487075T	AK7	NM_152327.5(AK7):c.2133+19A>T	noncoding	Benign
14	96797538	C	T	C96797538T	VRK1	NM_003384.3(VRK1):c.-6+91C>T	noncoding	Benign
14	96797592	T	C	T96797592C	VRK1	NM_003384.3(VRK1):c.-6+145T>C	noncoding	Benign
14	96833581	G	A	G96833581A	VRK1	NM_003384.3(VRK1):c.110G>A:p.Trp37Ter	coding	Pathogenic
14	96833928	G	A	G96833928A	VRK1	NM_003384.3(VRK1):c.160+297G>A	noncoding	Benign
14	96837688	A	T	A96837688T	VRK1	NM_003384.3(VRK1):c.161-74A>T	noncoding	Benign
14	96846176	A	G	A96846176G	VRK1	NM_003384.3(VRK1):c.286+12A>G	noncoding	Benign/Likely_benign
14	96847326	A	G	A96847326G	VRK1	NM_003384.3(VRK1):c.356A>G:p.His119Arg	coding	Pathogenic/Likely_pathogenic
14	96855299	A	T	A96855299T	VRK1	NM_003384.3(VRK1):c.652A>T:p.Lys218Ter	coding	Pathogenic
14	96856117	C	T	C96856117T	VRK1	NM_003384.3(VRK1):c.710-13C>T	noncoding	Benign
14	96856153	G	T	G96856153T	VRK1	NM_003384.3(VRK1):c.733G>T:p.Glu245Ter	coding	Pathogenic
14	96856203	G	A	G96856203A	VRK1	NM_003384.3(VRK1):c.783G>A:p.Trp261Ter	coding	Pathogenic
14	96856208	A	G	A96856208G	VRK1	NM_003384.3(VRK1):c.788A>G:p.Asp263Gly	coding	Pathogenic
14	96860845	G	A	G96860845A	VRK1	NM_003384.3(VRK1):c.1068+110G>A	noncoding	Benign
14	96876085	G	A	G96876085A	VRK1	NM_003384.3(VRK1):c.1124G>A:p.Trp375Ter	coding	Pathogenic
14	96876121	G	A	G96876121A	VRK1	NM_003384.3(VRK1):c.1159+1G>A	coding	Pathogenic/Likely_pathogenic
14	99174214	T	C	T99174214C	BCL11B	NM_138576.4(BCL11B):c.2622A>G:p.Lys874=	coding	Benign
14	99174529	G	A	G99174529A	BCL11B	NM_138576.4(BCL11B):c.2307C>T:p.Gly769=	coding	Benign
14	99174568	G	A	G99174568A	BCL11B	NM_138576.4(BCL11B):c.2268C>T:p.Pro756=	coding	Benign
14	99174861	C	T	C99174861T	BCL11B	NM_138576.4(BCL11B):c.1975G>A:p.Ala659Thr	coding	Benign
14	99174901	C	T	C99174901T	BCL11B	NM_138576.4(BCL11B):c.1935G>A:p.Ala645=	coding	Benign
14	99174931	G	A	G99174931A	BCL11B	NM_138576.4(BCL11B):c.1905C>T:p.Asp635=	coding	Benign/Likely_benign
14	99175315	G	A	G99175315A	BCL11B	NM_138576.4(BCL11B):c.1521C>T:p.Gly507=	coding	Benign
14	99175353	C	T	C99175353T	BCL11B	NM_138576.4(BCL11B):c.1483G>A:p.Ala495Thr	coding	Benign
14	99175456	G	T	G99175456T	BCL11B	NM_138576.4(BCL11B):c.1380C>A:p.Cys460Ter	coding	Pathogenic
14	99175657	G	A	G99175657A	BCL11B	NM_138576.4(BCL11B):c.1179C>T:p.Asn393=	coding	Benign
14	99175951	C	T	C99175951T	BCL11B	NM_138576.4(BCL11B):c.885G>A:p.Thr295=	coding	Benign
14	99176023	C	G	C99176023G	BCL11B	NM_138576.4(BCL11B):c.813G>C:p.Pro271=	coding	Benign
14	99176154	G	A	G99176154A	BCL11B	NM_138576.4(BCL11B):c.682C>T:p.Gln228Ter	coding	Pathogenic
14	99231328	G	A	G99231328A	BCL11B	NM_138576.4(BCL11B):c.640+17C>T	noncoding	Benign
14	99231434	G	A	G99231434A	BCL11B	NM_138576.4(BCL11B):c.551C>T:p.Pro184Leu	coding	Benign
14	99257470	C	T	C99257470T	BCL11B	NM_138576.4(BCL11B):c.427+1G>A	noncoding	Pathogenic
14	99257576	T	C	T99257576C	BCL11B	NM_138576.4(BCL11B):c.322A>G:p.Lys108Glu	coding	Benign
14	99257605	G	A	G99257605A	BCL11B	NM_138576.4(BCL11B):c.293C>T:p.Pro98Leu	coding	Benign
14	99495493	T	C	T99495493C	CCNK	NM_001099402.2(CCNK):c.280-5T>C	noncoding	Benign
14	99850935	C	T	C99850935T	EML1	NM_004434.3(EML1):c.150C>T:p.Asp50=	coding	Benign
14	99851039	G	A	G99851039A	EML1	NM_004434.3(EML1):c.250+4G>A	noncoding	Benign
14	99851135	G	A	G99851135A	EML1	NM_004434.3(EML1):c.250+100G>A	noncoding	Benign
14	99865539	T	C	T99865539C	EML1	NM_004434.3(EML1):c.276T>C:p.Pro92=	coding	Benign
14	99875093	A	G	A99875093G	EML1	NM_004434.3(EML1):c.384-3392A>G	noncoding	Benign
14	99875097	A	C	A99875097C	EML1	NM_004434.3(EML1):c.384-3388A>C	noncoding	Benign
14	99878313	C	T	C99878313T	EML1	NM_004434.3(EML1):c.384-172C>T	noncoding	Benign
14	99878361	T	C	T99878361C	EML1	NM_004434.3(EML1):c.384-124T>C	noncoding	Benign
14	99878715	G	C	G99878715C	EML1	NM_004434.3(EML1):c.518+96G>C	noncoding	Benign
14	99891306	C	T	C99891306T	EML1	NM_004434.3(EML1):c.547+79C>T	noncoding	Benign
14	99894518	A	G	A99894518G	EML1	NM_004434.3(EML1):c.548-111A>G	noncoding	Benign
14	99894735	C	G	C99894735G	EML1	NM_004434.3(EML1):c.654C>G:p.Thr218=	coding	Benign
14	99894968	C	T	C99894968T	EML1	NM_004434.3(EML1):c.677+210C>T	noncoding	Benign
14	99896917	A	C	A99896917C	EML1	NM_004434.3(EML1):c.678-228A>C	noncoding	Benign
14	99896929	T	C	T99896929C	EML1	NM_004434.3(EML1):c.678-216T>C	noncoding	Benign
14	99896999	T	C	T99896999C	EML1	NM_004434.3(EML1):c.678-146T>C	noncoding	Benign
14	99897334	G	C	G99897334C	EML1	NM_004434.3(EML1):c.827+40G>C	noncoding	Benign
14	99897335	A	G	A99897335G	EML1	NM_004434.3(EML1):c.827+41A>G	noncoding	Benign
14	99898066	T	C	T99898066C	EML1	NM_004434.3(EML1):c.828-167T>C	noncoding	Benign
14	99907846	G	A	G99907846A	EML1	NM_004434.3(EML1):c.1104+113G>A	noncoding	Benign
14	99909370	C	T	C99909370T	EML1	NM_004434.3(EML1):c.1130C>T:p.Ala377Val	coding	Benign
14	99910165	C	T	C99910165T	EML1	NM_004434.3(EML1):c.1240-77C>T	noncoding	Benign
14	99910378	G	A	G99910378A	EML1	NM_004434.3(EML1):c.1339+37G>A	noncoding	Benign
14	99911211	A	G	A99911211G	EML1	NM_004434.3(EML1):c.1340-211A>G	noncoding	Benign
14	99914059	A	T	A99914059T	EML1	NM_004434.3(EML1):c.1495-120A>T	noncoding	Benign
14	99914611	T	C	T99914611C	EML1	NM_004434.3(EML1):c.1666T>C:p.Ser556Pro	coding	Benign
14	99917626	C	G	C99917626G	EML1	NM_004434.3(EML1):c.1753-156C>G	noncoding	Benign
14	99917850	G	C	G99917850C	EML1	NM_004434.3(EML1):c.1820+1G>C	coding	Pathogenic
14	99917895	A	C	A99917895C	EML1	NM_004434.3(EML1):c.1820+46A>C	noncoding	Benign
14	99936478	G	A	G99936478A	EML1	NM_004434.3(EML1):c.2095+144G>A	noncoding	Benign
14	99936491	G	T	G99936491T	EML1	NM_004434.3(EML1):c.2095+157G>T	noncoding	Benign
14	99937730	A	G	A99937730G	EML1	NM_004434.3(EML1):c.2096-87A>G	noncoding	Benign
14	99938014	T	C	T99938014C	EML1	NM_004434.3(EML1):c.2191+102T>C	noncoding	Benign
14	99939420	C	T	C99939420T	EML1	NM_004434.3(EML1):c.2322+93C>T	noncoding	Benign
14	99939856	T	A	T99939856A	EML1	NM_004434.3(EML1):c.2323-131T>A	noncoding	Benign
14	100276649	G	A	G100276649A	YY1	NM_003403.5(YY1):c.1062+1G>A	coding	Pathogenic
14	100277466	C	T	C100277466T	YY1	NM_003403.5(YY1):c.1111C>T:p.Arg371Cys	coding	Pathogenic
14	100277469	A	C	A100277469C	YY1	NM_003403.5(YY1):c.1114A>C:p.Thr372Pro	coding	Pathogenic
14	100277479	G	A	G100277479A	YY1	NM_003403.5(YY1):c.1124G>A:p.Arg375Gln	coding	Pathogenic
14	100328802	G	T	G100328802T	SLC25A47	NM_207117.4(SLC25A47):c.404G>T:p.Arg135Leu	coding	Benign
14	100335086	T	C	T100335086C	WARS1	NM_004184.4(WARS1):c.1255-50A>G	noncoding	Benign
14	100335164	G	C	G100335164C	WARS1	NM_004184.4(WARS1):c.1255-128C>G	noncoding	Benign
14	100335207	A	G	A100335207G	WARS1	NM_004184.4(WARS1):c.1255-171T>C	noncoding	Benign
14	100337027	A	G	A100337027G	WARS1	NM_004184.4(WARS1):c.1254+35T>C	noncoding	Benign
14	100337318	C	A	C100337318A	WARS1	NM_004184.4(WARS1):c.1114-116G>T	noncoding	Benign
14	100337345	T	C	T100337345C	WARS1	NM_004184.4(WARS1):c.1114-143A>G	noncoding	Benign
14	100337405	C	G	C100337405G	WARS1	NM_004184.4(WARS1):c.1114-203G>C	noncoding	Benign
14	100342508	G	A	G100342508A	WARS1	NM_004184.4(WARS1):c.1003C>T:p.Leu335=	coding	Benign
14	100346740	T	C	T100346740C	WARS1	NM_004184.4(WARS1):c.826+6A>G	noncoding	Benign
14	100354643	G	A	G100354643A	WARS1	NM_004184.4(WARS1):c.423-77C>T	noncoding	Benign
14	100360436	C	G	C100360436G	WARS1	NM_004184.4(WARS1):c.422+118G>C	noncoding	Benign
14	100362060	T	C	T100362060C	WARS1	NM_004184.4(WARS1):c.100-139A>G	noncoding	Benign
14	100881466	C	T	C100881466T	RTL1	NM_001134888.3(RTL1):c.3323G>A:p.Arg1108Gln	coding	Benign/Likely_benign
14	100882235	C	T	C100882235T	RTL1	NM_001134888.3(RTL1):c.2554G>A:p.Ala852Thr	coding	Benign/Likely_benign
14	100883961	T	C	T100883961C	RTL1	NM_001134888.3(RTL1):c.828A>G:p.Glu276=	coding	Benign
14	101762885	C	T	C101762885T	PPP2R5C	NM_001352913.2(PPP2R5C):c.28-20C>T	noncoding	Benign
14	101819008	A	G	A101819008G	PPP2R5C	NM_001352913.2(PPP2R5C):c.259+32825A>G	coding	Benign
14	101856756	T	C	T101856756C	PPP2R5C	NM_001352913.2(PPP2R5C):c.330T>C:p.Phe110=	coding	Benign
14	101883344	T	C	T101883344C	PPP2R5C	NM_001352913.2(PPP2R5C):c.658T>C:p.Leu220=	coding	Benign
14	101883570	A	G	A101883570G	PPP2R5C	NM_001352913.2(PPP2R5C):c.794+8A>G	noncoding	Benign
14	101892987	G	C	G101892987C	PPP2R5C	NM_001352913.2(PPP2R5C):c.855-13G>C	noncoding	Benign
14	101893052	T	C	T101893052C	PPP2R5C	NM_001352913.2(PPP2R5C):c.907T>C:p.Leu303=	coding	Benign
14	101894579	G	A	G101894579A	PPP2R5C	NM_001352913.2(PPP2R5C):c.1017+19G>A	noncoding	Benign
14	101909571	G	A	G101909571A	PPP2R5C	NM_001352913.2(PPP2R5C):c.1317-18G>A	noncoding	Benign
14	101912484	A	C	A101912484C	PPP2R5C	NM_001352913.2(PPP2R5C):c.1491+11A>C	coding	Benign
14	101925122	A	G	A101925122G	PPP2R5C	NM_001352913.2(PPP2R5C):c.1609-19A>G	noncoding	Benign
14	101925240	G	C	G101925240C	PPP2R5C	NM_001352913.2(PPP2R5C):c.1708G>C:p.Ala570Pro	coding	Benign
14	101964645	T	A	T101964645A	DYNC1H1	NM_001376.5(DYNC1H1):c.-47T>A	noncoding	Benign
14	101979406	G	A	G101979406A	DYNC1H1	NM_001376.5(DYNC1H1):c.432G>A:p.Ser144=	coding	Benign/Likely_benign
14	101979995	G	A	G101979995A	DYNC1H1	NM_001376.5(DYNC1H1):c.774+21G>A	noncoding	Benign
14	101980063	T	C	T101980063C	DYNC1H1	NM_001376.5(DYNC1H1):c.774+89T>C	noncoding	Benign
14	101980337	C	T	C101980337T	DYNC1H1	NM_001376.5(DYNC1H1):c.775-27C>T	noncoding	Benign
14	101983230	A	G	A101983230G	DYNC1H1	NM_001376.5(DYNC1H1):c.1173A>G:p.Gln391=	coding	Benign/Likely_benign
14	101985704	A	G	A101985704G	DYNC1H1	NM_001376.5(DYNC1H1):c.1479A>G:p.Gln493=	coding	Benign/Likely_benign
14	101985903	G	A	G101985903A	DYNC1H1	NM_001376.5(DYNC1H1):c.1678G>A:p.Val560Met	coding	Pathogenic
14	101985964	A	C	A101985964C	DYNC1H1	NM_001376.5(DYNC1H1):c.1739A>C:p.Glu580Ala	coding	Pathogenic
14	101986018	G	T	G101986018T	DYNC1H1	NM_001376.5(DYNC1H1):c.1793G>T:p.Arg598Leu	coding	Pathogenic
14	101986059	G	A	G101986059A	DYNC1H1	NM_001376.5(DYNC1H1):c.1834G>A:p.Val612Met	coding	Pathogenic
14	101991493	A	T	A101991493T	DYNC1H1	NM_001376.5(DYNC1H1):c.2869-34A>T	noncoding	Benign
14	101991564	T	C	T101991564C	DYNC1H1	NM_001376.5(DYNC1H1):c.2906T>C:p.Ile969Thr	coding	Pathogenic
14	101991715	C	T	C101991715T	DYNC1H1	NM_001376.5(DYNC1H1):c.3015+42C>T	noncoding	Benign
14	101994631	T	C	T101994631C	DYNC1H1	NM_001376.5(DYNC1H1):c.3157-42T>C	noncoding	Benign
14	101994640	A	G	A101994640G	DYNC1H1	NM_001376.5(DYNC1H1):c.3157-33A>G	noncoding	Benign
14	101994662	T	C	T101994662C	DYNC1H1	NM_001376.5(DYNC1H1):c.3157-11T>C	noncoding	Benign
14	101995047	G	A	G101995047A	DYNC1H1	NM_001376.5(DYNC1H1):c.3395G>A:p.Gly1132Glu	coding	Pathogenic
14	101997296	C	T	C101997296T	DYNC1H1	NM_001376.5(DYNC1H1):c.3804+22C>T	noncoding	Benign
14	101997297	G	A	G101997297A	DYNC1H1	NM_001376.5(DYNC1H1):c.3804+23G>A	noncoding	Benign
14	102000428	G	A	G102000428A	DYNC1H1	NM_001376.5(DYNC1H1):c.4074+29G>A	noncoding	Benign
14	102000915	G	A	G102000915A	DYNC1H1	NM_001376.5(DYNC1H1):c.4075-39G>A	noncoding	Benign
14	102001255	C	G	C102001255G	DYNC1H1	NM_001376.5(DYNC1H1):c.4296C>G:p.Gly1432=	coding	Benign/Likely_benign
14	102002804	G	A	G102002804A	DYNC1H1	NM_001376.5(DYNC1H1):c.4722G>A:p.Glu1574=	coding	Benign/Likely_benign
14	102002950	G	A	G102002950A	DYNC1H1	NM_001376.5(DYNC1H1):c.4868G>A:p.Arg1623Gln	coding	Pathogenic/Likely_pathogenic
14	102004747	T	C	T102004747C	DYNC1H1	NM_001376.5(DYNC1H1):c.5050-15T>C	noncoding	Benign/Likely_benign
14	102004978	C	T	C102004978T	DYNC1H1	NM_001376.5(DYNC1H1):c.5238+28C>T	noncoding	Benign
14	102005029	C	A	C102005029A	DYNC1H1	NM_001376.5(DYNC1H1):c.5239-13C>A	noncoding	Benign/Likely_benign
14	102005030	T	C	T102005030C	DYNC1H1	NM_001376.5(DYNC1H1):c.5239-12T>C	noncoding	Benign
14	102005097	C	T	C102005097T	DYNC1H1	NM_001376.5(DYNC1H1):c.5294C>T:p.Ala1765Val	coding	Benign/Likely_benign
14	102005167	C	T	C102005167T	DYNC1H1	NM_001376.5(DYNC1H1):c.5364C>T:p.Thr1788=	coding	Benign
14	102006912	T	C	T102006912C	DYNC1H1	NM_001376.5(DYNC1H1):c.5717-96T>C	noncoding	Benign
14	102006979	C	T	C102006979T	DYNC1H1	NM_001376.5(DYNC1H1):c.5717-29C>T	noncoding	Benign
14	102007000	T	G	T102007000G	DYNC1H1	NM_001376.5(DYNC1H1):c.5717-8T>G	noncoding	Benign
14	102007954	C	T	C102007954T	DYNC1H1	NM_001376.5(DYNC1H1):c.5818-224C>T	noncoding	Benign
14	102008161	C	A	C102008161A	DYNC1H1	NM_001376.5(DYNC1H1):c.5818-17C>A	noncoding	Benign
14	102009607	C	G	C102009607G	DYNC1H1	NM_001376.5(DYNC1H1):c.5978-236C>G	noncoding	Benign
14	102009939	G	A	G102009939A	DYNC1H1	NM_001376.5(DYNC1H1):c.6074G>A:p.Arg2025Gln	coding	Pathogenic
14	102010256	C	A	C102010256A	DYNC1H1	NM_001376.5(DYNC1H1):c.6222-20C>A	noncoding	Benign/Likely_benign
14	102010582	A	G	A102010582G	DYNC1H1	NM_001376.5(DYNC1H1):c.6405+123A>G	noncoding	Benign
14	102010869	C	A	C102010869A	DYNC1H1	NM_001376.5(DYNC1H1):c.6535C>A:p.Arg2179=	coding	Benign/Likely_benign
14	102015248	G	A	G102015248A	DYNC1H1	NM_001376.5(DYNC1H1):c.7158G>A:p.Pro2386=	coding	Benign/Likely_benign
14	102015290	C	A	C102015290A	DYNC1H1	NM_001376.5(DYNC1H1):c.7200C>A:p.Gly2400=	coding	Benign/Likely_benign
14	102017551	A	C	A102017551C	DYNC1H1	NM_001376.5(DYNC1H1):c.8177+47A>C	noncoding	Benign
14	102018507	C	A	C102018507A	DYNC1H1	NM_001376.5(DYNC1H1):c.8234C>A:p.Thr2745Lys	coding	Pathogenic
14	102022794	G	A	G102022794A	DYNC1H1	NM_001376.5(DYNC1H1):c.8551G>A:p.Asp2851Asn	coding	Benign/Likely_benign
14	102022892	G	A	G102022892A	DYNC1H1	NM_001376.5(DYNC1H1):c.8637+12G>A	noncoding	Benign/Likely_benign
14	102022908	A	G	A102022908G	DYNC1H1	NM_001376.5(DYNC1H1):c.8637+28A>G	noncoding	Benign
14	102022938	T	C	T102022938C	DYNC1H1	NM_001376.5(DYNC1H1):c.8637+58T>C	noncoding	Benign
14	102027575	G	A	G102027575A	DYNC1H1	NM_001376.5(DYNC1H1):c.9048+31G>A	noncoding	Benign
14	102027871	C	T	C102027871T	DYNC1H1	NM_001376.5(DYNC1H1):c.9263+38C>T	noncoding	Benign
14	102027908	C	G	C102027908G	DYNC1H1	NM_001376.5(DYNC1H1):c.9264-29C>G	noncoding	Benign
14	102028184	C	T	C102028184T	DYNC1H1	NM_001376.5(DYNC1H1):c.9468+43C>T	noncoding	Benign
14	102029272	G	A	G102029272A	DYNC1H1	NM_001376.5(DYNC1H1):c.9469-267G>A	noncoding	Benign
14	102030173	A	G	A102030173G	DYNC1H1	NM_001376.5(DYNC1H1):c.9774A>G:p.Gln3258=	coding	Benign
14	102032173	A	G	A102032173G	DYNC1H1	NM_001376.5(DYNC1H1):c.9884-99A>G	noncoding	Benign
14	102032418	C	T	C102032418T	DYNC1H1	NM_001376.5(DYNC1H1):c.10030C>T:p.Arg3344Trp	coding	Pathogenic
14	102032895	C	T	C102032895T	DYNC1H1	NM_001376.5(DYNC1H1):c.10080-170C>T	noncoding	Benign
14	102033816	A	G	A102033816G	DYNC1H1	NM_001376.5(DYNC1H1):c.10414-160A>G	noncoding	Benign
14	102033907	G	T	G102033907T	DYNC1H1	NM_001376.5(DYNC1H1):c.10414-69G>T	noncoding	Benign
14	102033963	G	A	G102033963A	DYNC1H1	NM_001376.5(DYNC1H1):c.10414-13G>A	noncoding	Benign/Likely_benign
14	102034002	G	A	G102034002A	DYNC1H1	NM_001376.5(DYNC1H1):c.10440G>A:p.Lys3480=	coding	Benign/Likely_benign
14	102034136	G	A	G102034136A	DYNC1H1	NM_001376.5(DYNC1H1):c.10574G>A:p.Arg3525His	coding	Pathogenic/Likely_pathogenic
14	102034706	G	A	G102034706A	DYNC1H1	NM_001376.5(DYNC1H1):c.10754+254G>A	noncoding	Benign
14	102039155	G	A	G102039155A	DYNC1H1	NM_001376.5(DYNC1H1):c.11361G>A:p.Thr3787=	coding	Benign/Likely_benign
14	102039373	G	A	G102039373A	DYNC1H1	NM_001376.5(DYNC1H1):c.11461-39G>A	noncoding	Benign
14	102039558	T	C	T102039558C	DYNC1H1	NM_001376.5(DYNC1H1):c.11595+12T>C	noncoding	Benign/Likely_benign
14	102039577	G	C	G102039577C	DYNC1H1	NM_001376.5(DYNC1H1):c.11595+31G>C	noncoding	Benign
14	102039578	G	C	G102039578C	DYNC1H1	NM_001376.5(DYNC1H1):c.11595+32G>C	noncoding	Benign
14	102039611	C	G	C102039611G	DYNC1H1	NM_001376.5(DYNC1H1):c.11596-27C>G	noncoding	Benign
14	102040294	A	C	A102040294C	DYNC1H1	NM_001376.5(DYNC1H1):c.11749A>C:p.Ser3917Arg	coding	Benign/Likely_benign
14	102040446	G	C	G102040446C	DYNC1H1	NM_001376.5(DYNC1H1):c.11865+36G>C	noncoding	Benign
14	102041541	C	T	C102041541T	DYNC1H1	NM_001376.5(DYNC1H1):c.11942-33C>T	noncoding	Benign
14	102041754	C	T	C102041754T	DYNC1H1	NM_001376.5(DYNC1H1):c.12102+20C>T	noncoding	Benign/Likely_benign
14	102041755	G	A	G102041755A	DYNC1H1	NM_001376.5(DYNC1H1):c.12102+21G>A	noncoding	Benign
14	102042193	G	A	G102042193A	DYNC1H1	NM_001376.5(DYNC1H1):c.12215-35G>A	noncoding	Benign
14	102042384	G	A	G102042384A	DYNC1H1	NM_001376.5(DYNC1H1):c.12276G>A:p.Arg4092=	coding	Benign/Likely_benign
14	102042780	C	G	C102042780G	DYNC1H1	NM_001376.5(DYNC1H1):c.12513+32C>G	noncoding	Benign
14	102043925	G	A	G102043925A	DYNC1H1	NM_001376.5(DYNC1H1):c.12564G>A:p.Ala4188=	coding	Benign/Likely_benign
14	102043945	G	A	G102043945A	DYNC1H1	NM_001376.5(DYNC1H1):c.12584G>A:p.Arg4195Gln	coding	Benign/Likely_benign
14	102043955	A	T	A102043955T	DYNC1H1	NM_001376.5(DYNC1H1):c.12594A>T:p.Pro4198=	coding	Benign/Likely_benign
14	102044064	A	G	A102044064G	DYNC1H1	NM_001376.5(DYNC1H1):c.12684+19A>G	noncoding	Benign/Likely_benign
14	102044080	G	C	G102044080C	DYNC1H1	NM_001376.5(DYNC1H1):c.12684+35G>C	noncoding	Benign
14	102044531	C	T	C102044531T	DYNC1H1	NM_001376.5(DYNC1H1):c.12902+40C>T	noncoding	Benign
14	102044581	C	T	C102044581T	DYNC1H1	NM_001376.5(DYNC1H1):c.12903-14C>T	noncoding	Benign/Likely_benign
14	102048307	C	T	C102048307T	DYNC1H1	NM_001376.5(DYNC1H1):c.13219-209C>T	noncoding	Benign
14	102049109	A	C	A102049109C	DYNC1H1	NM_001376.5(DYNC1H1):c.13373-331A>C	noncoding	Benign
14	102049474	G	A	G102049474A	DYNC1H1	NM_001376.5(DYNC1H1):c.13407G>A:p.Val4469=	coding	Benign/Likely_benign
14	102049516	C	T	C102049516T	DYNC1H1	NM_001376.5(DYNC1H1):c.13449C>T:p.Ser4483=	coding	Benign
14	102049600	G	A	G102049600A	DYNC1H1	NM_001376.5(DYNC1H1):c.13515+18G>A	noncoding	Benign
14	102049688	C	A	C102049688A	DYNC1H1	NM_001376.5(DYNC1H1):c.13516-26C>A	noncoding	Benign
14	102348705	C	T	C102348705T	CINP	NM_032630.3(CINP):c.491G>A:p.Arg164His	coding	Benign
14	102376755	G	T	G102376755T	TECPR2	NM_014844.5(TECPR2):c.34G>T:p.Glu12Ter	coding	Pathogenic
14	102407549	A	G	A102407549G	TECPR2	NM_014844.5(TECPR2):c.348+83A>G	noncoding	Benign
14	102425068	G	A	G102425068A	TECPR2	NM_014844.5(TECPR2):c.728G>A:p.Trp243Ter	coding	Pathogenic
14	102425306	G	T	G102425306T	TECPR2	NM_014844.5(TECPR2):c.951+15G>T	noncoding	Benign
14	102428245	G	A	G102428245A	TECPR2	NM_014844.5(TECPR2):c.952-5G>A	noncoding	Benign/Likely_benign
14	102431499	T	C	T102431499C	TECPR2	NM_014844.5(TECPR2):c.1085-297T>C	noncoding	Benign
14	102431549	A	G	A102431549G	TECPR2	NM_014844.5(TECPR2):c.1085-247A>G	noncoding	Benign
14	102431556	A	C	A102431556C	TECPR2	NM_014844.5(TECPR2):c.1085-240A>C	noncoding	Benign
14	102431563	T	C	T102431563C	TECPR2	NM_014844.5(TECPR2):c.1085-233T>C	noncoding	Benign
14	102431577	T	C	T102431577C	TECPR2	NM_014844.5(TECPR2):c.1085-219T>C	noncoding	Benign
14	102431593	T	C	T102431593C	TECPR2	NM_014844.5(TECPR2):c.1085-203T>C	noncoding	Benign
14	102431594	G	A	G102431594A	TECPR2	NM_014844.5(TECPR2):c.1085-202G>A	noncoding	Benign
14	102434080	G	T	G102434080T	TECPR2	NM_014844.5(TECPR2):c.1418-155G>T	noncoding	Benign
14	102434910	G	A	G102434910A	TECPR2	NM_014844.5(TECPR2):c.2093G>A:p.Trp698Ter	coding	Pathogenic
14	102437766	G	A	G102437766A	TECPR2	NM_014844.5(TECPR2):c.2395-256G>A	noncoding	Benign
14	102437842	G	C	G102437842C	TECPR2	NM_014844.5(TECPR2):c.2395-180G>C	noncoding	Benign
14	102438462	T	C	T102438462C	TECPR2	NM_014844.5(TECPR2):c.2578+257T>C	noncoding	Benign
14	102440456	G	T	G102440456T	TECPR2	NM_014844.5(TECPR2):c.2599G>T:p.Glu867Ter	coding	Pathogenic
14	102443809	G	A	G102443809A	TECPR2	NM_014844.5(TECPR2):c.2915G>A:p.Trp972Ter	coding	Pathogenic
14	102445570	A	G	A102445570G	TECPR2	NM_014844.5(TECPR2):c.2934-236A>G	noncoding	Benign
14	102449828	C	T	C102449828T	TECPR2	NM_014844.5(TECPR2):c.3275C>T:p.Ser1092Leu	coding	Benign/Likely_benign
14	102450569	G	A	G102450569A	TECPR2	NM_014844.5(TECPR2):c.3326G>A:p.Trp1109Ter	coding	Pathogenic
14	102452349	T	C	T102452349C	TECPR2	NM_014844.5(TECPR2):c.3407-45T>C	noncoding	Benign
14	102465186	G	A	G102465186A	TECPR2	NM_014844.5(TECPR2):c.3686G>A:p.Trp1229Ter	coding	Pathogenic
14	102465430	T	A	T102465430A	TECPR2	NM_014844.5(TECPR2):c.3789+141T>A	coding	Benign
14	102496670	G	A	G102496670A	TECPR2	NM_014844.5(TECPR2):c.3790-309G>A	noncoding	Benign
14	102497303	G	A	G102497303A	TECPR2	NM_014844.5(TECPR2):c.3931+183G>A	noncoding	Benign
14	102497584	C	T	C102497584T	TECPR2	NM_014844.5(TECPR2):c.3946C>T:p.Gln1316Ter	coding	Pathogenic
14	102498317	A	G	A102498317G	TECPR2	NM_014844.5(TECPR2):c.*60A>G	noncoding	Benign
14	102707419	C	A	C102707419A	RCOR1	NM_015156.4(RCOR1):c.567C>A:p.Thr189=	coding	Benign
14	102721018	T	C	T102721018C	RCOR1	NM_015156.4(RCOR1):c.1065T>C:p.Ile355=	coding	Benign
14	102722346	A	G	A102722346G	RCOR1	NM_015156.4(RCOR1):c.1349A>G:p.Asn450Ser	coding	Benign
14	102722401	C	T	C102722401T	RCOR1	NM_015156.4(RCOR1):c.1404C>T:p.Pro468=	coding	Benign
14	102870462	C	T	C102870462T	TRAF3	NM_145725.3(TRAF3):c.245+16C>T	noncoding	Benign
14	102870465	C	T	C102870465T	TRAF3	NM_145725.3(TRAF3):c.245+19C>T	noncoding	Benign
14	102871980	T	G	T102871980G	TRAF3	NM_145725.3(TRAF3):c.297+12T>G	noncoding	Benign
14	102871987	T	A	T102871987A	TRAF3	NM_145725.3(TRAF3):c.297+19T>A	noncoding	Benign
14	102875712	T	C	T102875712C	TRAF3	NM_145725.3(TRAF3):c.386T>C:p.Met129Thr	coding	Benign
14	102876545	A	G	A102876545G	TRAF3	NM_145725.3(TRAF3):c.570+20A>G	noncoding	Benign
14	102886194	C	T	C102886194T	TRAF3	NM_145725.3(TRAF3):c.576C>T:p.His192=	coding	Benign
14	102897246	G	T	G102897246T	TRAF3	NM_145725.3(TRAF3):c.820-15G>T	noncoding	Benign
14	102905301	C	G	C102905301G	TRAF3	NM_145725.3(TRAF3):c.1224C>G:p.Val408=	coding	Benign
14	102905391	G	C	G102905391C	TRAF3	NM_145725.3(TRAF3):c.1314G>C:p.Leu438=	coding	Benign
14	102905493	G	A	G102905493A	TRAF3	NM_145725.3(TRAF3):c.1416G>A:p.Ser472=	coding	Benign
14	102905562	A	G	A102905562G	TRAF3	NM_145725.3(TRAF3):c.1485A>G:p.Thr495=	coding	Benign
14	102922443	A	T	A102922443T	AMN	Single_allele	noncoding	Benign
14	102922602	C	G	C102922602G	AMN	Single_allele	noncoding	Benign
14	102922615	C	T	C102922615T	AMN	Single_allele	noncoding	Benign
14	102922662	T	C	T102922662C	AMN	Single_allele	noncoding	Benign
14	102922666	G	C	G102922666C	AMN	NM_030943.4(AMN):c.-23G>C	noncoding	Benign
14	102922877	C	T	C102922877T	AMN	NM_030943.4(AMN):c.43+146C>T	noncoding	Benign
14	102923730	C	T	C102923730T	AMN	NM_030943.4(AMN):c.63C>T:p.Ser21=	coding	Benign
14	102924046	T	C	T102924046C	AMN	NM_030943.4(AMN):c.207+67T>C	noncoding	Benign
14	102928410	C	T	C102928410T	AMN	NM_030943.4(AMN):c.208-16C>T	noncoding	Benign
14	102929087	G	C	G102929087C	AMN	NM_030943.4(AMN):c.514-34G>C	noncoding	Benign
14	102929518	C	T	C102929518T	AMN	NM_030943.4(AMN):c.742C>T:p.Gln248Ter	coding	Pathogenic/Likely_pathogenic
14	102929735	C	T	C102929735T	AMN	NM_030943.4(AMN):c.841C>T:p.Leu281=	coding	Benign
14	102929748	C	T	C102929748T	AMN	NM_030943.4(AMN):c.843+11C>T	noncoding	Benign
14	102929749	G	A	G102929749A	AMN	NM_030943.4(AMN):c.843+12G>A	noncoding	Benign
14	102929921	C	T	C102929921T	AMN	NM_030943.4(AMN):c.844-3C>T	noncoding	Benign
14	102930338	C	G	C102930338G	AMN	NM_030943.4(AMN):c.1169+11C>G	noncoding	Benign
14	102930718	G	C	G102930718C	AMN	NM_030943.4(AMN):c.*38G>C	noncoding	Benign
14	102930813	T	C	T102930813C	AMN	NM_030943.4(AMN):c.*133T>C	noncoding	Benign
14	102944314	G	A	G102944314A	CDC42BPB	NM_006035.4(CDC42BPB):c.3985C>T:p.Gln1329Ter	coding	Pathogenic
14	102949759	G	A	G102949759A	CDC42BPB	NM_006035.4(CDC42BPB):c.3449+6C>T	noncoding	Benign
14	102964629	G	A	G102964629A	CDC42BPB	NM_006035.4(CDC42BPB):c.2599C>T:p.Arg867Cys	coding	Pathogenic/Likely_pathogenic
14	102974136	G	C	G102974136C	CDC42BPB	NM_006035.4(CDC42BPB):c.1521C>G:p.Leu507=	coding	Benign
14	103004011	G	A	G103004011A	CDC42BPB	NM_006035.4(CDC42BPB):c.364C>T:p.Arg122Ter	coding	Pathogenic
14	103102410	C	G	C103102410G	EXOC3L4	NM_001077594.2(EXOC3L4):c.687C>G:p.Pro229=	coding	Benign
14	103102612	G	A	G103102612A	EXOC3L4	NM_001077594.2(EXOC3L4):c.889G>A:p.Val297Met	coding	Benign
14	103104017	G	T	G103104017T	EXOC3L4	NM_001077594.2(EXOC3L4):c.1126G>T:p.Ala376Ser	coding	Benign
14	103457138	A	G	A103457138G	MARK3	NM_001128918.3(MARK3):c.413-4A>G	noncoding	Benign
14	103559997	G	A	G103559997A	BAG5	NM_001015048.3(BAG5):c.1168C>T:p.Arg390Ter	coding	Pathogenic
14	103560576	G	A	G103560576A	BAG5	NM_001015048.3(BAG5):c.589C>T:p.Arg197Ter	coding	Pathogenic
14	103562786	C	A	C103562786A	COA8	NM_032374.4:c.-177C>A	noncoding	Benign
14	103562909	G	A	G103562909A	COA8	Single_allele	noncoding	Benign
14	103563105	G	A	G103563105A	COA8	NM_001370595.2(COA8):c.104G>A:p.Arg35Lys	coding	Benign
14	103563134	G	A	G103563134A	COA8	NM_001370595.2(COA8):c.123+10G>A	noncoding	Benign/Likely_benign
14	103574077	C	A	C103574077A	COA8	NM_001370595.2(COA8):c.322-30C>A	noncoding	Benign
14	103574181	T	G	T103574181G	COA8	NM_001370595.2(COA8):c.385+11T>G	noncoding	Benign/Likely_benign
14	103574295	A	G	A103574295G	COA8	NM_001370595.2(COA8):c.385+125A>G	noncoding	Benign
14	103587383	C	T	C103587383T	COA8	NM_001370595.2(COA8):c.476+19C>T	noncoding	Benign/Likely_benign
14	103587427	C	T	C103587427T	COA8	NM_001370595.2(COA8):c.476+63C>T	noncoding	Benign
14	103590625	T	C	T103590625C	COA8	NM_001370595.2(COA8):c.*339T>C	noncoding	Benign
14	104176520	G	C	G104176520C	KIF26A	NM_015656.2(KIF26A):c.3732G>C:p.Leu1244=	coding	Benign
14	104177384	C	A	C104177384A	KIF26A	NM_015656.2(KIF26A):c.4596C>A:p.Ala1532=	coding	Benign
14	104177522	A	G	A104177522G	KIF26A	NM_015656.2(KIF26A):c.4734A>G:p.Arg1578=	coding	Benign
14	104701320	C	T	C104701320T	INF2	NM_022489.4(INF2):c.-9-37C>T	noncoding	Benign
14	104701402	G	A	G104701402A	INF2	NM_022489.4(INF2):c.37G>A:p.Ala13Thr	coding	Benign/Likely_benign
14	104701583	G	T	G104701583T	INF2	NM_022489.4(INF2):c.218G>T:p.Gly73Val	coding	Pathogenic
14	104701595	T	C	T104701595C	INF2	NM_022489.4(INF2):c.230T>C:p.Leu77Pro	coding	Pathogenic
14	104701636	C	G	C104701636G	INF2	NM_022489.4(INF2):c.271C>G:p.Arg91Gly	coding	Pathogenic/Likely_pathogenic
14	104701706	G	A	G104701706A	INF2	NM_022489.4(INF2):c.341G>A:p.Gly114Asp	coding	Pathogenic
14	104701748	T	C	T104701748C	INF2	NM_022489.4(INF2):c.383T>C:p.Leu128Pro	coding	Pathogenic/Likely_pathogenic
14	104701749	C	T	C104701749T	INF2	NM_022489.4(INF2):c.384C>T:p.Leu128=	coding	Benign
14	104702921	G	A	G104702921A	INF2	NM_022489.4(INF2):c.392-184G>A	noncoding	Benign
14	104703329	T	G	T104703329G	INF2	NM_022489.4(INF2):c.542T>G:p.Val181Gly	coding	Pathogenic
14	104703426	G	A	G104703426A	INF2	NM_022489.4(INF2):c.639G>A:p.Ala213=	coding	Benign/Likely_benign
14	104703427	C	T	C104703427T	INF2	NM_022489.4(INF2):c.640C>T:p.Arg214Cys	coding	Pathogenic
14	104703666	T	G	T104703666G	INF2	NM_022489.4(INF2):c.667+212T>G	noncoding	Benign
14	104703826	G	A	G104703826A	INF2	NM_022489.4(INF2):c.668-90G>A	noncoding	Benign
14	104703838	T	G	T104703838G	INF2	NM_022489.4(INF2):c.668-78T>G	noncoding	Benign
14	104703885	G	A	G104703885A	INF2	NM_022489.4(INF2):c.668-31G>A	noncoding	Benign
14	104706415	G	A	G104706415A	INF2	NM_022489.4(INF2):c.843+239G>A	noncoding	Benign
14	104706874	C	T	C104706874T	INF2	NM_022489.4(INF2):c.844-36C>T	noncoding	Benign
14	104707548	A	C	A104707548C	INF2	NM_022489.4(INF2):c.1281A>C:p.Pro427=	coding	Benign
14	104707907	G	A	G104707907A	INF2	NM_022489.4(INF2):c.1640G>A:p.Gly547Asp	coding	Benign/Likely_benign
14	104708108	G	A	G104708108A	INF2	NM_022489.4(INF2):c.1735+106G>A	noncoding	Benign
14	104708388	A	G	A104708388G	INF2	NM_022489.4(INF2):c.1736-48A>G	noncoding	Benign
14	104708395	G	A	G104708395A	INF2	NM_022489.4(INF2):c.1736-41G>A	noncoding	Benign
14	104708418	C	T	C104708418T	INF2	NM_022489.4(INF2):c.1736-18C>T	noncoding	Benign/Likely_benign
14	104708712	C	T	C104708712T	INF2	NM_022489.4(INF2):c.1929C>T:p.Ile643=	coding	Benign/Likely_benign
14	104708766	C	T	C104708766T	INF2	NM_022489.4(INF2):c.1949+34C>T	noncoding	Benign
14	104708903	G	A	G104708903A	INF2	NM_022489.4(INF2):c.1949+171G>A	noncoding	Benign
14	104709607	C	T	C104709607T	INF2	NM_022489.4(INF2):c.2053-13C>T	noncoding	Benign/Likely_benign
14	104709717	C	T	C104709717T	INF2	NM_022489.4(INF2):c.2138+12C>T	noncoding	Benign/Likely_benign
14	104710136	C	T	C104710136T	INF2	NM_022489.4(INF2):c.2187C>T:p.Ala729=	coding	Benign
14	104710345	T	C	T104710345C	INF2	NM_022489.4(INF2):c.2239+157T>C	noncoding	Benign
14	104711007	C	T	C104711007T	INF2	NM_022489.4(INF2):c.2310C>T:p.Tyr770=	coding	Benign/Likely_benign
14	104711196	G	T	G104711196T	INF2	NM_022489.4(INF2):c.2418+10G>T	noncoding	Benign
14	104711229	C	A	C104711229A	INF2	NM_022489.4(INF2):c.2418+43C>A	noncoding	Benign
14	104711991	C	T	C104711991T	INF2	NM_022489.4(INF2):c.2489+292C>T	noncoding	Benign
14	104712401	G	A	G104712401A	INF2	NM_022489.4(INF2):c.2490-32G>A	noncoding	Benign
14	104712413	C	T	C104712413T	INF2	NM_022489.4(INF2):c.2490-20C>T	noncoding	Benign/Likely_benign
14	104713008	G	A	G104713008A	INF2	NM_022489.4(INF2):c.2775+16G>A	noncoding	Benign
14	104713012	C	A	C104713012A	INF2	NM_022489.4(INF2):c.2775+20C>A	noncoding	Benign
14	104713370	C	T	C104713370T	INF2	NM_022489.4(INF2):c.2878+61C>T	noncoding	Benign
14	104713418	G	A	G104713418A	INF2	NM_022489.4(INF2):c.2879-27G>A	noncoding	Benign
14	104713627	C	T	C104713627T	INF2	NM_022489.4(INF2):c.3040+21C>T	noncoding	Benign
14	104713892	C	A	C104713892A	INF2	NM_022489.4(INF2):c.3040+286C>A	noncoding	Benign
14	104714800	G	A	G104714800A	INF2	NM_022489.4(INF2):c.3638G>A:p.Arg1213Gln	coding	Benign/Likely_benign
14	104718501	A	G	A104718501G	INF2	NM_022489.4(INF2):c.*2-294A>G	noncoding	Benign
14	104718517	G	A	G104718517A	INF2	NM_022489.4(INF2):c.*2-278G>A	noncoding	Benign
14	104718766	A	G	A104718766G	INF2	NM_022489.4(INF2):c.*2-29A>G	noncoding	Benign
14	104729898	G	A	G104729898A	ADSS1	NM_152328.5(ADSS1):c.193-5122G>A	coding	Benign
14	104730028	T	C	T104730028C	ADSS1	NM_152328.5(ADSS1):c.193-4992T>C	coding	Benign
14	104738454	T	C	T104738454C	ADSS1	NM_152328.5(ADSS1):c.358+16T>C	noncoding	Benign
14	104739316	G	A	G104739316A	ADSS1	NM_152328.5(ADSS1):c.359-12G>A	noncoding	Benign
14	104739396	G	C	G104739396C	ADSS1	NM_152328.5(ADSS1):c.409+18G>C	noncoding	Benign
14	104739835	T	A	T104739835A	ADSS1	NM_152328.5(ADSS1):c.476+19T>A	noncoding	Benign
14	104740585	A	G	A104740585G	ADSS1	NM_152328.5(ADSS1):c.477-16A>G	noncoding	Benign
14	104740703	C	T	C104740703T	ADSS1	NM_152328.5(ADSS1):c.579C>T:p.Ser193=	coding	Benign
14	104740797	A	G	A104740797G	ADSS1	NM_152328.5(ADSS1):c.585-42A>G	noncoding	Benign
14	104740834	T	C	T104740834C	ADSS1	NM_152328.5(ADSS1):c.585-5T>C	noncoding	Benign
14	104740834	T	G	T104740834G	ADSS1	NM_152328.5(ADSS1):c.585-5T>G	noncoding	Benign
14	104740938	G	A	G104740938A	ADSS1	NM_152328.5(ADSS1):c.666+18G>A	noncoding	Benign
14	104741110	C	G	C104741110G	ADSS1	NM_152328.5(ADSS1):c.667-7C>G	noncoding	Benign
14	104743085	C	T	C104743085T	ADSS1	NM_152328.5(ADSS1):c.967C>T:p.Gln323Ter	coding	Pathogenic
14	104743191	C	T	C104743191T	ADSS1	NM_152328.5(ADSS1):c.1073C>T:p.Ala358Val	coding	Benign
14	104744884	C	T	C104744884T	ADSS1	NM_152328.5(ADSS1):c.1146C>T:p.Asn382=	coding	Benign
14	104746221	G	A	G104746221A	ADSS1	NM_152328.5(ADSS1):c.1172-15G>A	noncoding	Benign
14	104746309	C	T	C104746309T	ADSS1	NM_152328.5(ADSS1):c.1245C>T:p.Gly415=	coding	Benign
14	104747006	A	G	A104747006G	ADSS1	NM_152328.5(ADSS1):c.*3A>G	noncoding	Benign
14	104770423	G	A	G104770423A	AKT1	NM_001382430.1(AKT1):c.1364-3C>T	noncoding	Benign
14	104771064	A	G	A104771064G	AKT1	NM_001382430.1(AKT1):c.1261-217T>C	noncoding	Benign
14	104772140	G	A	G104772140A	AKT1	NM_001382430.1(AKT1):c.1260+225C>T	noncoding	Benign
14	104772267	C	T	C104772267T	AKT1	NM_001382430.1(AKT1):c.1260+98G>A	noncoding	Benign
14	104772299	G	C	G104772299C	AKT1	NM_001382430.1(AKT1):c.1260+66C>G	noncoding	Benign
14	104772333	C	T	C104772333T	AKT1	NM_001382430.1(AKT1):c.1260+32G>A	noncoding	Benign
14	104772353	G	A	G104772353A	AKT1	NM_001382430.1(AKT1):c.1260+12C>T	noncoding	Benign
14	104772483	G	C	G104772483C	AKT1	NM_001382430.1(AKT1):c.1173-31C>G	noncoding	Benign
14	104772617	C	T	C104772617T	AKT1	NM_001382430.1(AKT1):c.1173-165G>A	noncoding	Benign
14	104772809	C	G	C104772809G	AKT1	NM_001382430.1(AKT1):c.1172+69G>C	noncoding	Benign
14	104772855	T	C	T104772855C	AKT1	NM_001382430.1(AKT1):c.1172+23A>G	noncoding	Benign
14	104773233	C	T	C104773233T	AKT1	NM_001382430.1(AKT1):c.957+18G>A	noncoding	Benign
14	104773774	G	A	G104773774A	AKT1	NM_001382430.1(AKT1):c.702+138C>T	noncoding	Benign
14	104773879	G	A	G104773879A	AKT1	NM_001382430.1(AKT1):c.702+33C>T	noncoding	Benign
14	104775041	C	T	C104775041T	AKT1	NM_001382430.1(AKT1):c.567+35G>A	noncoding	Benign
14	104775062	C	T	C104775062T	AKT1	NM_001382430.1(AKT1):c.567+14G>A	noncoding	Benign/Likely_benign
14	104775064	C	T	C104775064T	AKT1	NM_001382430.1(AKT1):c.567+12G>A	noncoding	Benign
14	104775239	G	A	G104775239A	AKT1	NM_001382430.1(AKT1):c.436-32C>T	noncoding	Benign
14	104775270	G	A	G104775270A	AKT1	NM_001382430.1(AKT1):c.436-63C>T	noncoding	Benign
14	104775813	G	A	G104775813A	AKT1	NM_001382430.1(AKT1):c.288-14C>T	noncoding	Benign
14	104775891	T	C	T104775891C	AKT1	NM_001382430.1(AKT1):c.288-92A>G	noncoding	Benign
14	104776489	C	A	C104776489A	AKT1	NM_001382430.1(AKT1):c.287+170G>T	noncoding	Benign
14	104776489	C	T	C104776489T	AKT1	NM_001382430.1(AKT1):c.287+170G>A	noncoding	Benign
14	104776494	C	T	C104776494T	AKT1	NM_001382430.1(AKT1):c.287+165G>A	noncoding	Benign
14	104776629	T	C	T104776629C	AKT1	NM_001382430.1(AKT1):c.287+30A>G	noncoding	Benign
14	104776883	G	A	G104776883A	AKT1	NM_001382430.1(AKT1):c.176-113C>T	noncoding	Benign
14	104777098	G	T	G104777098T	AKT1	NM_001382430.1(AKT1):c.176-328C>A	noncoding	Benign
14	104780070	G	A	G104780070A	AKT1	NM_001382430.1(AKT1):c.175+18C>T	noncoding	Benign
14	104780070	G	C	G104780070C	AKT1	NM_001382430.1(AKT1):c.175+18C>G	noncoding	Benign
14	104780214	C	T	C104780214T	AKT1	NM_001382430.1(AKT1):c.49G>A:p.Glu17Lys	coding	Pathogenic
14	104780228	C	T	C104780228T	AKT1	NM_001382430.1(AKT1):c.47-12G>A	noncoding	Benign
14	104780292	G	A	G104780292A	AKT1	NM_001382430.1(AKT1):c.47-76C>T	noncoding	Benign
14	104780344	G	A	G104780344A	AKT1	NM_001382430.1(AKT1):c.47-128C>T	noncoding	Benign
14	104780349	G	A	G104780349A	AKT1	NM_001382430.1(AKT1):c.47-133C>T	noncoding	Benign
14	104780355	T	A	T104780355A	AKT1	NM_001382430.1(AKT1):c.47-139A>T	noncoding	Benign
14	104792555	C	T	C104792555T	AKT1	NM_001382430.1(AKT1):c.46+43G>A	noncoding	Benign
14	104792556	A	G	A104792556G	AKT1	NM_001382430.1(AKT1):c.46+42T>C	noncoding	Benign
14	104801242	A	G	A104801242G	ZBTB42	NM_001137601.3(ZBTB42):c.45A>G:p.Arg15=	coding	Benign
14	104801597	G	A	G104801597A	ZBTB42	NM_001137601.3(ZBTB42):c.400G>A:p.Ala134Thr	coding	Benign
14	104801767	G	A	G104801767A	ZBTB42	NM_001137601.3(ZBTB42):c.570G>A:p.Leu190=	coding	Benign
14	104802364	G	A	G104802364A	ZBTB42	NM_001137601.3(ZBTB42):c.1167G>A:p.Pro389=	coding	Benign
14	104941978	T	C	T104941978C	AHNAK2	NM_138420.4(AHNAK2):c.13473A>G:p.Pro4491=	coding	Benign
14	104946867	G	T	G104946867T	AHNAK2	NM_138420.4(AHNAK2):c.8584C>A:p.Arg2862Ser	coding	Benign
14	104946981	C	T	C104946981T	AHNAK2	NM_138420.4(AHNAK2):c.8470G>A:p.Gly2824Arg	coding	Benign
14	104946988	C	T	C104946988T	AHNAK2	NM_138420.4(AHNAK2):c.8463G>A:p.Pro2821=	coding	Benign
14	104948040	C	G	C104948040G	AHNAK2	NM_138420.4(AHNAK2):c.7411G>C:p.Val2471Leu	coding	Benign
14	104949596	G	A	G104949596A	AHNAK2	NM_138420.4(AHNAK2):c.5855C>T:p.Pro1952Leu	coding	Benign/Likely_benign
14	105142998	A	G	A105142998G	JAG2	NM_002226.5(JAG2):c.3414T>C:p.Ile1138=	coding	Benign
14	105241282	G	A	G105241282A	BRF1	NM_001519.4(BRF1):c.677C>T:p.Ser226Leu	coding	Pathogenic/Likely_pathogenic
14	105314177	G	A	G105314177A	PACS2	NM_001243127.3(PACS2):c.-83+13198G>A	noncoding	Benign
14	105314207	C	A	C105314207A	PACS2	NM_001243127.3(PACS2):c.-83+13228C>A	noncoding	Benign
14	105314227	G	A	G105314227A	PACS2	NM_001243127.3(PACS2):c.-83+13248G>A	noncoding	Benign
14	105314317	A	G	A105314317G	PACS2	NM_001243127.3(PACS2):c.-83+13338A>G	noncoding	Benign
14	105314544	T	C	T105314544C	PACS2	NM_015197.3(PACS2):c.-375T>C	noncoding	Benign
14	105314951	C	T	C105314951T	PACS2	NM_001100913.3(PACS2):c.33C>T:p.Gly11_Ala12=	coding	Benign
14	105314997	A	G	A105314997G	PACS2	NM_001100913.3(PACS2):c.79A>G:p.Thr27Ala	coding	Benign
14	105348520	G	A	G105348520A	PACS2	NM_001100913.3(PACS2):c.147G>A:p.Leu49=	coding	Benign
14	105348554	T	G	T105348554G	PACS2	NM_001100913.3(PACS2):c.181T>G:p.Ser61Ala	coding	Benign
14	105352366	G	A	G105352366A	PACS2	NM_001100913.3(PACS2):c.208-12G>A	noncoding	Benign
14	105352424	G	A	G105352424A	PACS2	NM_001100913.3(PACS2):c.254G>A:p.Ser85Asn	coding	Benign
14	105354869	T	A	T105354869A	PACS2	NM_001100913.3(PACS2):c.298-183T>A	noncoding	Benign
14	105354932	G	A	G105354932A	PACS2	NM_001100913.3(PACS2):c.298-120G>A	noncoding	Benign
14	105355005	T	G	T105355005G	PACS2	NM_001100913.3(PACS2):c.298-47T>G	noncoding	Benign
14	105355102	G	A	G105355102A	PACS2	NM_001100913.3(PACS2):c.348G>A:p.Gln116=	coding	Benign
14	105355342	C	T	C105355342T	PACS2	NM_001100913.3(PACS2):c.423+165C>T	noncoding	Benign
14	105355380	C	T	C105355380T	PACS2	NM_001100913.3(PACS2):c.423+203C>T	noncoding	Benign
14	105366990	G	A	G105366990A	PACS2	NM_001100913.3(PACS2):c.424-223G>A	noncoding	Benign
14	105367195	C	T	C105367195T	PACS2	NM_001100913.3(PACS2):c.424-18C>T	noncoding	Benign
14	105367273	G	A	G105367273A	PACS2	NM_001100913.3(PACS2):c.484G>A:p.Ala162Thr	coding	Benign
14	105367286	C	T	C105367286T	PACS2	NM_001100913.3(PACS2):c.497C>T:p.Ala166Val	coding	Benign
14	105367342	A	G	A105367342G	PACS2	NM_001100913.3(PACS2):c.553A>G:p.Thr185Ala	coding	Benign
14	105367354	G	A	G105367354A	PACS2	NM_001100913.3(PACS2):c.565G>A:p.Gly189Ser	coding	Benign
14	105367952	C	G	C105367952G	PACS2	NM_001100913.3(PACS2):c.587-122C>G	noncoding	Benign
14	105368069	C	T	C105368069T	PACS2	NM_001100913.3(PACS2):c.587-5C>T	noncoding	Benign
14	105369804	T	C	T105369804C	PACS2	NM_001100913.3(PACS2):c.742-37T>C	noncoding	Benign
14	105369897	C	T	C105369897T	PACS2	NM_001100913.3(PACS2):c.798C>T:p.Asp266=	coding	Benign
14	105369913	C	T	C105369913T	PACS2	NM_001100913.3(PACS2):c.801+13C>T	noncoding	Benign
14	105376608	G	C	G105376608C	PACS2	NM_001100913.3(PACS2):c.802-160G>C	noncoding	Benign
14	105376644	T	C	T105376644C	PACS2	NM_001100913.3(PACS2):c.802-124T>C	noncoding	Benign
14	105376722	A	G	A105376722G	PACS2	NM_001100913.3(PACS2):c.802-46A>G	noncoding	Benign
14	105376792	G	A	G105376792A	PACS2	NM_001100913.3(PACS2):c.826G>A:p.Ala276Thr	coding	Benign
14	105376806	C	T	C105376806T	PACS2	NM_001100913.3(PACS2):c.840C>T:p.Pro280=	coding	Benign
14	105376842	C	G	C105376842G	PACS2	NM_001100913.3(PACS2):c.876C>G:p.Thr292=	coding	Benign
14	105376875	C	T	C105376875T	PACS2	NM_001100913.3(PACS2):c.909C>T:p.Pro303=	coding	Benign
14	105376941	C	A	C105376941A	PACS2	NM_001100913.3(PACS2):c.959+16C>A	noncoding	Benign
14	105376942	G	A	G105376942A	PACS2	NM_001100913.3(PACS2):c.959+17G>A	noncoding	Benign
14	105376959	C	A	C105376959A	PACS2	NM_001100913.3(PACS2):c.959+34C>A	noncoding	Benign
14	105379800	G	A	G105379800A	PACS2	NM_001100913.3(PACS2):c.1021G>A:p.Ala341Thr	coding	Benign
14	105380166	T	C	T105380166C	PACS2	NM_001100913.3(PACS2):c.1125+12T>C	noncoding	Benign
14	105380172	G	A	G105380172A	PACS2	NM_001100913.3(PACS2):c.1125+18G>A	noncoding	Benign
14	105380950	T	A	T105380950A	PACS2	NM_001100913.3(PACS2):c.1126-7T>A	noncoding	Benign
14	105381036	C	T	C105381036T	PACS2	NM_001100913.3(PACS2):c.1205C>T:p.Thr402Met	coding	Benign
14	105381118	C	T	C105381118T	PACS2	NM_001100913.3(PACS2):c.1268+19C>T	noncoding	Benign
14	105382013	C	T	C105382013T	PACS2	NM_001100913.3(PACS2):c.1368C>T:p.Asn456=	coding	Benign
14	105382080	C	T	C105382080T	PACS2	NM_001100913.3(PACS2):c.1413+22C>T	noncoding	Benign
14	105382524	C	T	C105382524T	PACS2	NM_001100913.3(PACS2):c.1461C>T:p.Ser487=	coding	Benign
14	105382554	T	C	T105382554C	PACS2	NM_001100913.3(PACS2):c.1491T>C:p.Leu497=	coding	Benign
14	105382566	G	A	G105382566A	PACS2	NM_001100913.3(PACS2):c.1503G>A:p.Ser501=	coding	Benign
14	105382587	G	A	G105382587A	PACS2	NM_001100913.3(PACS2):c.1518+6G>A	noncoding	Benign
14	105382818	C	T	C105382818T	PACS2	NM_001100913.3(PACS2):c.1530C>T:p.Asp510=	coding	Benign
14	105383220	C	T	C105383220T	PACS2	NM_001100913.3(PACS2):c.1626-139C>T	noncoding	Benign
14	105383335	G	A	G105383335A	PACS2	NM_001100913.3(PACS2):c.1626-24G>A	noncoding	Benign
14	105383407	G	A	G105383407A	PACS2	NM_001100913.3(PACS2):c.1674G>A:p.Ala558=	coding	Benign
14	105383413	G	A	G105383413A	PACS2	NM_001100913.3(PACS2):c.1680G>A:p.Ala560=	coding	Benign/Likely_benign
14	105383524	C	T	C105383524T	PACS2	NM_001100913.3(PACS2):c.1780+11C>T	noncoding	Benign
14	105383525	G	A	G105383525A	PACS2	NM_001100913.3(PACS2):c.1780+12G>A	noncoding	Benign
14	105383611	G	A	G105383611A	PACS2	NM_001100913.3(PACS2):c.1780+98G>A	noncoding	Benign
14	105383614	G	T	G105383614T	PACS2	NM_001100913.3(PACS2):c.1780+101G>T	noncoding	Benign
14	105383708	A	G	A105383708G	PACS2	NM_001100913.3(PACS2):c.1780+195A>G	noncoding	Benign
14	105384357	C	T	C105384357T	PACS2	NM_001100913.3(PACS2):c.1785C>T:p.Ser595=	coding	Benign
14	105384384	C	T	C105384384T	PACS2	NM_001100913.3(PACS2):c.1812C>T:p.Ser604=	coding	Benign
14	105384399	C	T	C105384399T	PACS2	NM_001100913.3(PACS2):c.1827C>T:p.Tyr609=	coding	Benign
14	105384477	G	A	G105384477A	PACS2	NM_001100913.3(PACS2):c.1891+14G>A	noncoding	Benign
14	105384514	C	A	C105384514A	PACS2	NM_001100913.3(PACS2):c.1891+51C>A	noncoding	Benign
14	105384916	G	A	G105384916A	PACS2	NM_001100913.3(PACS2):c.1929G>A:p.Gln643=	coding	Benign
14	105384923	G	A	G105384923A	PACS2	NM_001100913.3(PACS2):c.1936G>A:p.Ala646Thr	coding	Benign
14	105385001	C	T	C105385001T	PACS2	NM_001100913.3(PACS2):c.2000+14C>T	noncoding	Benign
14	105385007	C	T	C105385007T	PACS2	NM_001100913.3(PACS2):c.2000+20C>T	noncoding	Benign
14	105385037	A	G	A105385037G	PACS2	NM_001100913.3(PACS2):c.2000+50A>G	noncoding	Benign
14	105389954	C	T	C105389954T	PACS2	NM_001100913.3(PACS2):c.2034-7C>T	noncoding	Benign
14	105390018	G	A	G105390018A	PACS2	NM_001100913.3(PACS2):c.2076+15G>A	noncoding	Benign
14	105391339	T	C	T105391339C	PACS2	NM_001100913.3(PACS2):c.2119+90T>C	noncoding	Benign
14	105391632	C	T	C105391632T	PACS2	NM_001100913.3(PACS2):c.2121C>T:p.Gly707=	coding	Benign
14	105391638	G	A	G105391638A	PACS2	NM_001100913.3(PACS2):c.2127G>A:p.Ser709=	coding	Benign
14	105391644	C	G	C105391644G	PACS2	NM_001100913.3(PACS2):c.2133C>G:p.Asp711Glu	coding	Benign
14	105391647	G	A	G105391647A	PACS2	NM_001100913.3(PACS2):c.2136G>A:p.Ala712=	coding	Benign
14	105391655	C	T	C105391655T	PACS2	NM_001100913.3(PACS2):c.2144C>T:p.Ser715Leu	coding	Benign
14	105391685	C	T	C105391685T	PACS2	NM_001100913.3(PACS2):c.2174C>T:p.Pro725Leu	coding	Benign
14	105391701	G	A	G105391701A	PACS2	NM_001100913.3(PACS2):c.2190G>A:p.Ala730=	coding	Benign
14	105391740	G	A	G105391740A	PACS2	NM_001100913.3(PACS2):c.2229G>A:p.Ser743=	coding	Benign
14	105391752	C	T	C105391752T	PACS2	NM_001100913.3(PACS2):c.2241C>T:p.Gly747=	coding	Benign
14	105391775	G	T	G105391775T	PACS2	NM_001100913.3(PACS2):c.2255+9G>T	noncoding	Benign
14	105392628	C	T	C105392628T	PACS2	NM_001100913.3(PACS2):c.2265C>T:p.Val755=	coding	Benign
14	105392632	G	A	G105392632A	PACS2	NM_001100913.3(PACS2):c.2269G>A:p.Ala757Thr	coding	Benign
14	105392676	G	A	G105392676A	PACS2	NM_001100913.3(PACS2):c.2313G>A:p.Gln771=	coding	Benign
14	105392681	C	T	C105392681T	PACS2	NM_001100913.3(PACS2):c.2318C>T:p.Ala773Val	coding	Benign
14	105392798	C	T	C105392798T	PACS2	NM_001100913.3(PACS2):c.2435C>T:p.Thr812Met	coding	Benign
14	105392865	A	G	A105392865G	PACS2	NM_001100913.3(PACS2):c.2482+20A>G	noncoding	Benign
14	105393205	C	G	C105393205G	PACS2	NM_001100913.3(PACS2):c.2483-17C>G	noncoding	Benign
14	105393256	C	T	C105393256T	PACS2	NM_001100913.3(PACS2):c.2517C>T:p.Asp839=	coding	Benign
14	105393257	G	T	G105393257T	PACS2	NM_001100913.3(PACS2):c.2518G>T:p.Val840Leu	coding	Benign
14	105393573	C	T	C105393573T	PACS2	NM_001100913.3(PACS2):c.2596+238C>T	noncoding	Benign
14	105394521	G	T	G105394521T	PACS2	NM_001100913.3(PACS2):c.2597-33G>T	noncoding	Benign
14	105394567	C	T	C105394567T	PACS2	NM_001100913.3(PACS2):c.2610C>T:p.Gly870=	coding	Benign
14	105394628	C	T	C105394628T	PACS2	NM_001100913.3(PACS2):c.2671C>T:p.His891Tyr	coding	Benign
14	105394643	A	G	A105394643G	PACS2	NM_001100913.3(PACS2):c.2686A>G:p.Ile896Val	coding	Benign
14	105394648	C	T	C105394648T	PACS2	NM_001100913.3(PACS2):c.2691C>T:p.Phe897=	coding	Benign
14	105854405	C	T	C105854405T	IGHM	NG_001019.6:g.1025940G>A	noncoding	Pathogenic
14	105856087	G	A	G105856087A	IGHM	NC_000014.9:g.105856087G>C	noncoding	Pathogenic
15	22786945	C	G	C22786945G	NIPA1	NM_144599.5(NIPA1):c.178+111C>G	noncoding	Benign
15	22787087	G	T	G22787087T	NIPA1	NM_144599.5(NIPA1):c.178+253G>T	noncoding	Benign
15	22810959	C	T	C22810959T	NIPA1	NM_144599.5(NIPA1):c.226+163C>T	noncoding	Benign
15	22820245	A	G	A22820245G	NIPA1	NM_144599.5(NIPA1):c.318-68A>G	noncoding	Benign
15	22820627	C	T	C22820627T	NIPA1	NM_144599.5(NIPA1):c.478+154C>T	noncoding	Benign
15	22851338	T	C	T22851338C	NIPA2	NM_030922.7(NIPA2):c.-93-301T>C	noncoding	Benign
15	22851396	T	G	T22851396G	NIPA2	NM_030922.7(NIPA2):c.-93-243T>G	noncoding	Benign
15	22851553	G	A	G22851553A	NIPA2	NM_030922.7(NIPA2):c.-93-86G>A	noncoding	Benign
15	22851674	C	T	C22851674T	NIPA2	NM_030922.7(NIPA2):c.-58C>T	noncoding	Benign
15	22851830	G	A	G22851830A	NIPA2	NM_030922.7(NIPA2):c.99G>A:p.Lys33=	coding	Benign
15	22851955	C	T	C22851955T	NIPA2	NM_030922.7(NIPA2):c.139+85C>T	noncoding	Benign
15	22860320	T	C	T22860320C	NIPA2	NM_030922.7(NIPA2):c.288-309T>C	noncoding	Benign
15	22865961	C	T	C22865961T	NIPA2	NM_030922.7(NIPA2):c.449-252C>T	noncoding	Benign
15	22866019	C	T	C22866019T	NIPA2	NM_030922.7(NIPA2):c.449-194C>T	noncoding	Benign
15	22866084	A	C	A22866084C	NIPA2	NM_030922.7(NIPA2):c.449-129A>C	noncoding	Benign
15	22866158	G	T	G22866158T	NIPA2	NM_030922.7(NIPA2):c.449-55G>T	noncoding	Benign
15	22866361	G	T	G22866361T	NIPA2	NM_030922.7(NIPA2):c.597G>T:p.Leu199=	coding	Benign
15	22999743	T	C	T22999743C	TUBGCP5	NM_052903.6(TUBGCP5):c.*77A>G	noncoding	Benign
15	23000076	C	A	C23000076A	TUBGCP5	NM_052903.6(TUBGCP5):c.3029-210G>T	noncoding	Benign
15	23000270	A	G	A23000270G	TUBGCP5	NM_052903.6(TUBGCP5):c.3028+299T>C	noncoding	Benign
15	23003208	C	A	C23003208A	TUBGCP5	NM_052903.6(TUBGCP5):c.2839-55G>T	noncoding	Benign
15	23003264	T	C	T23003264C	TUBGCP5	NM_052903.6(TUBGCP5):c.2839-111A>G	noncoding	Benign
15	23003304	T	C	T23003304C	TUBGCP5	NM_052903.6(TUBGCP5):c.2839-151A>G	noncoding	Benign
15	23006447	C	T	C23006447T	TUBGCP5	NM_052903.6(TUBGCP5):c.2328-95G>A	noncoding	Benign
15	23006570	G	A	G23006570A	TUBGCP5	NM_052903.6(TUBGCP5):c.2328-218C>T	noncoding	Benign
15	23008424	G	A	G23008424A	TUBGCP5	NM_052903.6(TUBGCP5):c.2327+275C>T	noncoding	Benign
15	23008630	T	C	T23008630C	TUBGCP5	NM_052903.6(TUBGCP5):c.2327+69A>G	noncoding	Benign
15	23017643	G	A	G23017643A	TUBGCP5	NM_052903.6(TUBGCP5):c.1756+130C>T	noncoding	Benign
15	23019071	G	A	G23019071A	TUBGCP5	NM_052903.6(TUBGCP5):c.1487+148C>T	noncoding	Benign
15	23027416	A	G	A23027416G	TUBGCP5	NM_052903.6(TUBGCP5):c.623-110T>C	noncoding	Benign
15	23027530	C	T	C23027530T	TUBGCP5	NM_052903.6(TUBGCP5):c.623-224G>A	noncoding	Benign
15	23033097	G	A	G23033097A	TUBGCP5	NM_052903.6(TUBGCP5):c.310-273C>T	noncoding	Benign
15	23033110	G	C	G23033110C	TUBGCP5	NM_052903.6(TUBGCP5):c.310-286C>G	noncoding	Benign
15	23037422	C	T	C23037422T	TUBGCP5	NM_052903.6(TUBGCP5):c.147-270G>A	noncoding	Benign
15	23566445	C	T	C23566445T	MKRN3	NM_005664.4(MKRN3):c.663C>T:p.Pro221=	coding	Benign
15	23643744	A	T	A23643744T	MAGEL2	NM_019066.5(MAGEL2):c.*249T>A	noncoding	Benign
15	23643886	G	T	G23643886T	MAGEL2	NM_019066.5(MAGEL2):c.*107C>A	noncoding	Benign
15	23644022	C	T	C23644022T	MAGEL2	NM_019066.5(MAGEL2):c.3721G>A:p.Gly1241Ser	coding	Benign/Likely_benign
15	23644700	G	A	G23644700A	MAGEL2	NM_019066.5(MAGEL2):c.3043C>T:p.Gln1015Ter	coding	Pathogenic
15	23644731	A	G	A23644731G	MAGEL2	NM_019066.5(MAGEL2):c.3012T>C:p.Ser1004=	coding	Benign/Likely_benign
15	23644849	C	T	C23644849T	MAGEL2	NM_019066.5(MAGEL2):c.2894G>A:p.Trp965Ter	coding	Pathogenic
15	23645453	C	T	C23645453T	MAGEL2	NM_019066.5(MAGEL2):c.2290G>A:p.Ala764Thr	coding	Benign/Likely_benign
15	23645590	G	T	G23645590T	MAGEL2	NM_019066.5(MAGEL2):c.2153C>A:p.Ser718Ter	coding	Pathogenic
15	23645737	T	A	T23645737A	MAGEL2	NM_019066.5(MAGEL2):c.2006A>T:p.Gln669Leu	coding	Benign
15	23645893	C	T	C23645893T	MAGEL2	NM_019066.5(MAGEL2):c.1850G>A:p.Trp617Ter	coding	Pathogenic
15	23645906	G	A	G23645906A	MAGEL2	NM_019066.5(MAGEL2):c.1837C>T:p.Gln613Ter	coding	Pathogenic
15	23646333	A	G	A23646333G	MAGEL2	NM_019066.5(MAGEL2):c.1410T>C:p.Pro470=	coding	Benign
15	23646438	C	T	C23646438T	MAGEL2	NM_019066.5(MAGEL2):c.1305G>A:p.Pro435=	coding	Benign/Likely_benign
15	23646705	C	G	C23646705G	MAGEL2	NM_019066.5(MAGEL2):c.1038G>C:p.Arg346Ser	coding	Benign/Likely_benign
15	23646722	G	A	G23646722A	MAGEL2	NM_019066.5(MAGEL2):c.1021C>T:p.Gln341Ter	coding	Pathogenic/Likely_pathogenic
15	23647056	C	T	C23647056T	MAGEL2	NM_019066.5(MAGEL2):c.687G>A:p.Met229Ile	coding	Benign/Likely_benign
15	23647466	G	A	G23647466A	MAGEL2	NM_019066.5(MAGEL2):c.277C>T:p.Pro93Ser	coding	Pathogenic
15	23647470	C	T	C23647470T	MAGEL2	NM_019066.5(MAGEL2):c.273G>A:p.Pro91=	coding	Benign
15	23647592	A	G	A23647592G	MAGEL2	NM_019066.5(MAGEL2):c.151T>C:p.Leu51=	coding	Benign
15	23647983	G	A	G23647983A	MAGEL2	Single_allele	noncoding	Benign
15	23648164	A	G	A23648164G	MAGEL2	Single_allele	noncoding	Benign
15	24974365	T	C	T24974365C	SNRPN	NM_003097.6(SNRPN):c.-89T>C	noncoding	Benign/Likely_benign
15	25339114	G	T	G25339114T	UBE3A	NM_130839.5(UBE3A):c.*23C>A	noncoding	Benign
15	25340083	A	G	A25340083G	UBE3A	NM_130839.5(UBE3A):c.2498+2T>C	noncoding	Pathogenic
15	25340084	C	T	C25340084T	UBE3A	NM_130839.5(UBE3A):c.2498+1G>A	noncoding	Pathogenic
15	25356056	C	G	C25356056G	UBE3A	NM_130839.5(UBE3A):c.1960G>C:p.Val654Leu	coding	Pathogenic
15	25356680	A	T	A25356680T	UBE3A	NM_130839.5(UBE3A):c.1959+11T>A	noncoding	Benign/Likely_benign
15	25359262	G	T	G25359262T	SNHG14;UBE3A	NM_130839.5(UBE3A):c.1753+1121C>A	noncoding	Benign
15	25371110	C	G	C25371110G	UBE3A	NM_130839.5(UBE3A):c.1064G>C:p.Ser355Thr	coding	Benign
15	25371214	T	C	T25371214C	UBE3A	NM_130839.5(UBE3A):c.960A>G:p.Lys320=	coding	Benign
15	25371247	C	T	C25371247T	UBE3A	NM_130839.5(UBE3A):c.927G>A:p.Ala309=	coding	Benign/Likely_benign
15	25371304	A	G	A25371304G	UBE3A	NM_130839.5(UBE3A):c.870T>C:p.Asn290=	coding	Benign
15	25371316	G	T	G25371316T	UBE3A	NM_130839.5(UBE3A):c.858C>A:p.Ile286=	coding	Benign
15	25371359	T	C	T25371359C	UBE3A	NM_130839.5(UBE3A):c.815A>G:p.Asn272Ser	coding	Benign
15	25371404	A	G	A25371404G	UBE3A	NM_130839.5(UBE3A):c.770T>C:p.Leu257Pro	coding	Pathogenic
15	25371781	A	T	A25371781T	UBE3A	NM_130839.5(UBE3A):c.393T>A:p.Tyr131Ter	coding	Pathogenic
15	25405461	A	G	A25405461G	UBE3A	NM_130839.5(UBE3A):c.62T>C:p.Met21Thr	coding	Pathogenic
15	25408837	A	G	A25408837G	UBE3A	NM_130839.5(UBE3A):c.20+251T>C	noncoding	Benign
15	25432684	G	A	G25432684A	UBE3A	NM_130839.5(UBE3A):c.-165+5805C>T	noncoding	Benign
15	25432947	T	C	T25432947C	UBE3A	NM_130839.5(UBE3A):c.-165+5542A>G	noncoding	Benign
15	25437859	A	G	A25437859G	UBE3A	NM_130839.5(UBE3A):c.-165+630T>C	noncoding	Benign
15	25438500	C	T	C25438500T	UBE3A	NM_130839.5(UBE3A):c.-176G>A	noncoding	Benign
15	25708051	C	T	C25708051T	ATP10A	NM_024490.4(ATP10A):c.2500G>A:p.Glu834Lys	coding	Benign
15	25708295	C	T	C25708295T	ATP10A	NM_024490.4(ATP10A):c.2350G>A:p.Ala784Thr	coding	Benign
15	25716817	A	G	A25716817G	ATP10A	NM_024490.4(ATP10A):c.1689T>C:p.Pro563=	coding	Benign
15	25736043	A	G	A25736043G	ATP10A	NM_024490.4(ATP10A):c.740+13T>C	noncoding	Benign
15	26547946	G	C	G26547946C	GABRB3	NM_000814.6(GABRB3):c.1269C>G:p.His423Gln	coding	Benign/Likely_benign
15	26548011	A	G	A26548011G	GABRB3	NM_000814.6(GABRB3):c.1204T>C:p.Tyr402His	coding	Benign/Likely_benign
15	26548057	G	A	G26548057A	GABRB3	NM_000814.6(GABRB3):c.1158C>T:p.Gly386=	coding	Benign/Likely_benign
15	26560954	C	T	C26560954T	GABRB3	NM_000814.6(GABRB3):c.1058G>A:p.Arg353His	coding	Benign/Likely_benign
15	26561043	C	T	C26561043T	GABRB3	NM_000814.6(GABRB3):c.969G>A:p.Glu323=	coding	Benign/Likely_benign
15	26561089	A	C	A26561089C	GABRB3	NM_000814.6(GABRB3):c.923T>G:p.Met308Arg	coding	Pathogenic
15	26561101	T	C	T26561101C	GABRB3	NM_000814.6(GABRB3):c.911A>G:p.Lys304Arg	coding	Pathogenic/Likely_pathogenic
15	26561111	G	A	G26561111A	GABRB3	NM_000814.6(GABRB3):c.901C>T:p.Pro301Ser	coding	Pathogenic
15	26561152	G	A	G26561152A	GABRB3	NM_000814.6(GABRB3):c.860C>T:p.Thr287Ile	coding	Pathogenic
15	26561246	T	C	T26561246C	GABRB3	NM_000814.6(GABRB3):c.836-70A>G	noncoding	Benign
15	26580217	G	A	G26580217A	GABRB3	NM_000814.6(GABRB3):c.682+102C>T	noncoding	Benign
15	26580326	G	C	G26580326C	GABRB3	NM_000814.6(GABRB3):c.675C>G:p.Phe225Leu	coding	Pathogenic
15	26580546	C	T	C26580546T	GABRB3	NM_000814.6(GABRB3):c.545-90G>A	noncoding	Benign
15	26583406	G	A	G26583406A	GABRB3	NM_000814.6(GABRB3):c.470C>T:p.Thr157Met	coding	Pathogenic
15	26621487	C	A	C26621487A	GABRB3	NM_000814.6(GABRB3):c.288G>T:p.Arg96Ser	coding	Pathogenic
15	26628710	A	G	A26628710G	GABRB3	NM_000814.6(GABRB3):c.241-7176T>C	noncoding	Benign
15	26628999	C	T	C26628999T	GABRB3	NM_000814.6(GABRB3):c.241-7465G>A	coding	Benign
15	26629249	G	A	G26629249A	GABRB3	NM_000814.6(GABRB3):c.241-7715C>T	noncoding	Benign
15	26716779	A	C	A26716779C	GABRB3	NM_000814.6(GABRB3):c.240+55623T>G	noncoding	Benign
15	26716798	A	G	A26716798G	GABRB3	NM_000814.6(GABRB3):c.240+55604T>C	noncoding	Benign
15	26716811	A	T	A26716811T	GABRB3	NM_000814.6(GABRB3):c.240+55591T>A	noncoding	Benign
15	26716813	C	T	C26716813T	GABRB3	NM_000814.6(GABRB3):c.240+55589G>A	noncoding	Benign
15	26716876	C	G	C26716876G	GABRB3	NM_000814.6(GABRB3):c.240+55526G>C	noncoding	Benign
15	26772482	C	G	C26772482G	GABRB3	NM_000814.6(GABRB3):c.173-13G>C	noncoding	Benign/Likely_benign
15	26772872	C	T	C26772872T	GABRB3	NM_000814.6(GABRB3):c.80+11G>A	noncoding	Benign
15	26772944	C	T	C26772944T	GABRB3	NM_000814.6(GABRB3):c.19G>A:p.Gly7Arg	coding	Benign
15	26773674	G	C	G26773674C	GABRB3	NM_021912.5(GABRB3):c.51C>G:p.Thr17_Leu18=	coding	Benign
15	26773711	A	T	A26773711T	GABRB3	NM_021912.5(GABRB3):c.14T>A:p.Leu5His	coding	Benign
15	26773790	G	C	G26773790C	GABRB3	NM_000814.5(GABRB3):c.-828C>G	noncoding	Benign
15	26773866	C	A	C26773866A	GABRB3	NC_000015.9:g.27019013C>A	noncoding	Benign
15	26773893	C	A	C26773893A	GABRB3	Single_allele	noncoding	Benign
15	26883351	C	T	C26883351T	GABRA5	NM_000810.4(GABRA5):c.291C>T:p.Asp97=	coding	Benign/Likely_benign
15	26937210	T	C	T26937210C	GABRA5	NM_000810.4(GABRA5):c.606T>C:p.Val202=	coding	Benign
15	26939405	G	A	G26939405A	GABRA5	NM_000810.4(GABRA5):c.725-520G>A	noncoding	Benign
15	26943188	T	A	T26943188A	GABRA5	NM_000810.4(GABRA5):c.878-27T>A	noncoding	Benign
15	26943206	C	A	C26943206A	GABRA5	NM_000810.4(GABRA5):c.878-9C>A	noncoding	Benign
15	26943239	C	T	C26943239T	GABRA5	NM_000810.4(GABRA5):c.902C>T:p.Thr301Met	coding	Pathogenic
15	26943312	C	T	C26943312T	GABRA5	NM_000810.4(GABRA5):c.975C>T:p.Ala325=	coding	Benign
15	26948048	T	G	T26948048G	GABRA5	NM_000810.4(GABRA5):c.1204T>G:p.Ser402Ala	coding	Benign
15	27755408	C	T	C27755408T	OCA2	NM_000275.3(OCA2):c.2497G>A:p.Val833Met	coding	Benign
15	27845180	G	A	G27845180A	OCA2	NM_000275.3(OCA2):c.2339-128C>T	noncoding	Benign
15	27851175	G	A	G27851175A	OCA2	NM_000275.3(OCA2):c.2338+207C>T	noncoding	Benign
15	27851203	T	C	T27851203C	OCA2	NM_000275.3(OCA2):c.2338+179A>G	noncoding	Benign
15	27851307	A	G	A27851307G	OCA2	NM_000275.3(OCA2):c.2338+75T>C	noncoding	Benign
15	27851381	C	A	C27851381A	OCA2	NM_000275.3(OCA2):c.2338+1G>T	noncoding	Pathogenic
15	27851397	C	G	C27851397G	OCA2	NM_000275.3(OCA2):c.2323G>C:p.Gly775Arg	coding	Pathogenic
15	27851696	G	A	G27851696A	OCA2	NM_000275.3(OCA2):c.2245-221C>T	noncoding	Benign
15	27870875	T	C	T27870875C	OCA2	NM_000275.3(OCA2):c.2244+279A>G	noncoding	Benign
15	27870944	G	A	G27870944A	OCA2	NM_000275.3(OCA2):c.2244+210C>T	noncoding	Benign
15	27870991	A	G	A27870991G	OCA2	NM_000275.3(OCA2):c.2244+163T>C	noncoding	Benign
15	27871027	C	T	C27871027T	OCA2	NM_000275.3(OCA2):c.2244+127G>A	noncoding	Benign
15	27871129	G	C	G27871129C	OCA2	NM_000275.3(OCA2):c.2244+25C>G	noncoding	Benign
15	27871153	C	T	C27871153T	OCA2	NM_000275.3(OCA2):c.2244+1G>A	noncoding	Pathogenic
15	27871392	G	A	G27871392A	OCA2	NM_000275.3(OCA2):c.2140-134C>T	noncoding	Benign
15	27871441	T	C	T27871441C	OCA2	NM_000275.3(OCA2):c.2140-183A>G	noncoding	Benign
15	27871552	G	A	G27871552A	OCA2	NM_000275.3(OCA2):c.2140-294C>T	noncoding	Benign
15	27871752	T	C	T27871752C	OCA2	NM_000275.3(OCA2):c.2139+111A>G	noncoding	Benign
15	27871757	A	G	A27871757G	OCA2	NM_000275.3(OCA2):c.2139+106T>C	noncoding	Benign
15	27871841	T	A	T27871841A	OCA2	NM_000275.3(OCA2):c.2139+22A>T	noncoding	Benign
15	27872101	C	A	C27872101A	OCA2	NM_000275.3(OCA2):c.2080-179G>T	noncoding	Benign
15	27925982	A	G	A27925982G	OCA2	NM_000275.3(OCA2):c.2079+145T>C	noncoding	Benign
15	27926001	T	C	T27926001C	OCA2	NM_000275.3(OCA2):c.2079+126A>G	noncoding	Benign
15	27926227	C	T	C27926227T	OCA2	NM_000275.3(OCA2):c.1979G>A:p.Trp660Ter	coding	Pathogenic
15	27926524	T	A	T27926524A	OCA2	NM_000275.3(OCA2):c.1952-270A>T	noncoding	Benign
15	27951675	T	C	T27951675C	OCA2	NM_000275.3(OCA2):c.1951+109A>G	noncoding	Benign
15	27951739	C	G	C27951739G	OCA2	NM_000275.3(OCA2):c.1951+45G>C	noncoding	Benign
15	27951783	C	G	C27951783G	OCA2	NM_000275.3(OCA2):c.1951+1G>C	noncoding	Pathogenic
15	27951893	C	A	C27951893A	OCA2	NM_000275.3(OCA2):c.1843-1G>T	coding	Pathogenic
15	27954896	C	T	C27954896T	OCA2	NM_000275.3(OCA2):c.1842+262G>A	noncoding	Benign
15	27955141	G	A	G27955141A	OCA2	NM_000275.3(OCA2):c.1842+17C>T	noncoding	Benign/Likely_benign
15	27955156	A	G	A27955156G	OCA2	NM_000275.3(OCA2):c.1842+2T>C	noncoding	Pathogenic
15	27955262	T	C	T27955262C	OCA2	NM_000275.3(OCA2):c.1785-47A>G	noncoding	Benign
15	27955508	G	A	G27955508A	OCA2	NM_000275.3(OCA2):c.1785-293C>T	noncoding	Benign
15	27957427	G	A	G27957427A	OCA2	NM_000275.3(OCA2):c.1784+161C>T	noncoding	Benign
15	27957479	C	A	C27957479A	OCA2	NM_000275.3(OCA2):c.1784+109G>T	noncoding	Benign
15	27957495	C	T	C27957495T	OCA2	NM_000275.3(OCA2):c.1784+93G>A	noncoding	Benign
15	27957517	C	T	C27957517T	OCA2	NM_000275.3(OCA2):c.1784+71G>A	noncoding	Benign
15	27957673	C	T	C27957673T	OCA2	NM_000275.3(OCA2):c.1699G>A:p.Glu567Lys	coding	Pathogenic
15	27966612	A	G	A27966612G	OCA2	NM_000275.3(OCA2):c.1636+78T>C	noncoding	Benign
15	27966715	A	C	A27966715C	OCA2	NM_000275.3(OCA2):c.1611T>G:p.Tyr537Ter	coding	Pathogenic
15	27966824	T	C	T27966824C	OCA2	NM_000275.3(OCA2):c.1504-2A>G	noncoding	Pathogenic
15	27983470	G	A	G27983470A	OCA2	NM_000275.3(OCA2):c.1378C>T:p.Leu460Phe	coding	Pathogenic
15	27983474	C	T	C27983474T	OCA2	NM_000275.3(OCA2):c.1374G>A:p.Glu458=	coding	Benign
15	27983484	C	T	C27983484T	OCA2	NM_000275.3(OCA2):c.1365-1G>A	coding	Pathogenic
15	27984951	C	T	C27984951T	OCA2	NM_000275.3(OCA2):c.1364+113G>A	noncoding	Benign
15	27985038	T	C	T27985038C	OCA2	NM_000275.3(OCA2):c.1364+26A>G	noncoding	Benign
15	27985079	G	A	G27985079A	OCA2	NM_000275.3(OCA2):c.1349C>T:p.Thr450Met	coding	Pathogenic/Likely_pathogenic
15	27989966	T	C	T27989966C	OCA2	NM_000275.3(OCA2):c.1117-300A>G	noncoding	Benign
15	27990616	C	T	C27990616T	OCA2	NM_000275.3(OCA2):c.1076G>A:p.Gly359Asp	coding	Pathogenic
15	28014717	A	G	A28014717G	OCA2	NM_000275.3(OCA2):c.1044+59T>C	noncoding	Benign
15	28014774	A	G	A28014774G	OCA2	NM_000275.3(OCA2):c.1044+2T>C	noncoding	Pathogenic
15	28014800	G	A	G28014800A	OCA2	NM_000275.3(OCA2):c.1020C>T:p.Gly340=	coding	Benign
15	28014866	C	T	C28014866T	OCA2	NM_000275.3(OCA2):c.954G>A:p.Met318Ile	coding	Benign/Likely_benign
15	28015163	C	T	C28015163T	OCA2	NM_000275.3(OCA2):c.891-234G>A	noncoding	Benign
15	28016126	T	C	T28016126C	OCA2	NM_000275.3(OCA2):c.868A>G:p.Arg290Gly	coding	Pathogenic/Likely_pathogenic
15	28018526	C	T	C28018526T	OCA2	NM_000275.3(OCA2):c.678G>A:p.Thr226=	coding	Benign
15	28022500	C	A	C28022500A	OCA2	NM_000275.3(OCA2):c.646+1G>T	noncoding	Pathogenic
15	28022516	G	C	G28022516C	OCA2	NM_000275.3(OCA2):c.631C>G:p.Pro211Ala	coding	Pathogenic
15	28022591	G	A	G28022591A	OCA2	NM_000275.3(OCA2):c.574-18C>T	noncoding	Benign
15	28022612	A	G	A28022612G	OCA2	NM_000275.3(OCA2):c.574-39T>C	noncoding	Benign
15	28024696	C	T	C28024696T	OCA2	NM_000275.3(OCA2):c.573+149G>A	noncoding	Benign
15	28027893	G	A	G28027893A	OCA2	NM_000275.3(OCA2):c.493C>T:p.Arg165Ter	coding	Pathogenic
15	28027983	C	A	C28027983A	OCA2	NM_000275.3(OCA2):c.403G>T:p.Glu135Ter	coding	Pathogenic
15	28028021	G	A	G28028021A	OCA2	NM_000275.3(OCA2):c.365C>T:p.Thr122Ile	coding	Benign/Likely_benign
15	28031834	G	C	G28031834C	OCA2	NM_000275.3(OCA2):c.326+231C>G	noncoding	Benign
15	28031855	T	C	T28031855C	OCA2	NM_000275.3(OCA2):c.326+210A>G	noncoding	Benign
15	28031914	G	A	G28031914A	OCA2	NM_000275.3(OCA2):c.326+151C>T	noncoding	Benign
15	28081390	A	T	A28081390T	OCA2	NM_000275.3(OCA2):c.227+258T>A	noncoding	Benign
15	28081731	C	T	C28081731T	OCA2	NM_000275.3(OCA2):c.144G>A:p.Ser48=	coding	Benign/Likely_benign
15	28081749	G	A	G28081749A	OCA2	NM_000275.3(OCA2):c.126C>T:p.Ala42=	coding	Benign/Likely_benign
15	28081838	C	T	C28081838T	OCA2	NM_000275.3(OCA2):c.37G>A:p.Gly13Ser	coding	Benign/Likely_benign
15	28081839	G	A	G28081839A	OCA2	NM_000275.3(OCA2):c.36C>T:p.Pro12=	coding	Benign
15	28082024	C	T	C28082024T	OCA2	NM_000275.3(OCA2):c.-21-129G>A	noncoding	Benign
15	28114598	G	A	G28114598A	HERC2	NM_004667.6(HERC2):c.13913+14C>T	noncoding	Benign
15	28132626	C	T	C28132626T	HERC2	NM_004667.6(HERC2):c.12408+27G>A	noncoding	Benign
15	28141480	C	T	C28141480T	HERC2	NM_004667.6(HERC2):c.11967G>A:p.Gln3989=	coding	Benign
15	28168494	C	T	C28168494T	HERC2	NM_004667.6(HERC2):c.10326G>A:p.Met3442Ile	coding	Benign
15	28169519	T	C	T28169519C	HERC2	NM_004667.6(HERC2):c.10194A>G:p.Ser3398=	coding	Benign
15	28174431	G	A	G28174431A	HERC2	NM_004667.6(HERC2):c.10021C>T:p.Gln3341Ter	coding	Pathogenic/Likely_pathogenic
15	28174549	T	C	T28174549C	HERC2	NM_004667.6(HERC2):c.9903A>G:p.Thr3301=	coding	Benign
15	28174567	C	T	C28174567T	HERC2	NM_004667.6(HERC2):c.9885G>A:p.Thr3295_Val3296=	coding	Benign
15	28177394	A	G	A28177394G	HERC2	NM_004667.6(HERC2):c.9254+25T>C	noncoding	Benign
15	28198512	G	T	G28198512T	HERC2	NM_004667.6(HERC2):c.7886-9C>A	noncoding	Benign
15	28201492	A	G	A28201492G	HERC2	NM_004667.6(HERC2):c.7680T>C:p.Asn2560=	coding	Benign
15	28211160	A	T	A28211160T	HERC2	NM_004667.6(HERC2):c.6926-15T>A	noncoding	Benign
15	28222100	T	C	T28222100C	HERC2	NM_004667.6(HERC2):c.5580A>G:p.Gly1860=	coding	Benign
15	28257133	A	G	A28257133G	HERC2	NM_004667.6(HERC2):c.2445T>C:p.Gly815=	coding	Benign
15	28270784	G	A	G28270784A	HERC2	NM_004667.6(HERC2):c.1168C>T:p.Arg390Ter	coding	Pathogenic
15	28274911	G	A	G28274911A	HERC2	NM_004667.6(HERC2):c.637C>T:p.Arg213Ter	coding	Pathogenic
15	29269087	C	T	C29269087T	NSMCE3	NM_138704.4(NSMCE3):c.619G>A:p.Val207Ile	coding	Benign
15	29269607	C	G	C29269607G	NSMCE3	NM_138704.4(NSMCE3):c.99G>C:p.Gly33=	coding	Benign
15	29269636	T	C	T29269636C	NSMCE3	NM_138704.4(NSMCE3):c.70A>G:p.Ser24Gly	coding	Benign
15	29269662	G	A	G29269662A	NSMCE3	NM_138704.4(NSMCE3):c.44C>T:p.Ala15Val	coding	Benign
15	30904347	A	G	A30904347G	FAN1	NM_014967.5(FAN1):c.-152-165A>G	noncoding	Benign
15	30906196	A	G	A30906196G	FAN1	NM_014967.5(FAN1):c.1234+299A>G	noncoding	Benign
15	30907929	T	G	T30907929G	FAN1	NM_014967.5(FAN1):c.1235-189T>G	noncoding	Benign
15	30907970	A	T	A30907970T	FAN1	NM_014967.5(FAN1):c.1235-148A>T	noncoding	Benign
15	30908480	T	A	T30908480A	FAN1	NM_014967.5(FAN1):c.1375+222T>A	noncoding	Benign
15	30910294	G	A	G30910294A	FAN1	NM_014967.5(FAN1):c.1376-320G>A	noncoding	Benign
15	30910584	T	A	T30910584A	FAN1	NM_014967.5(FAN1):c.1376-30T>A	noncoding	Benign
15	30910890	C	T	C30910890T	FAN1	NM_014967.5(FAN1):c.1577+75C>T	coding	Benign
15	30913844	T	G	T30913844G	FAN1	NM_014967.5(FAN1):c.1578-14T>G	noncoding	Benign
15	30913982	C	T	C30913982T	FAN1	NM_014967.5(FAN1):c.1702C>T:p.Gln568Ter	coding	Pathogenic
15	30918007	T	G	T30918007G	FAN1	NM_014967.5(FAN1):c.1812-157T>G	noncoding	Benign
15	30918009	G	A	G30918009A	FAN1	NM_014967.5(FAN1):c.1812-155G>A	noncoding	Benign
15	30918203	C	T	C30918203T	FAN1	NM_014967.5(FAN1):c.1851C>T:p.Ser617=	coding	Benign/Likely_benign
15	30918448	A	G	A30918448G	FAN1	NM_014967.5(FAN1):c.1943+153A>G	noncoding	Benign
15	30920481	G	C	G30920481C	FAN1	NM_014967.5(FAN1):c.1944-64G>C	noncoding	Benign
15	30920669	C	G	C30920669G	FAN1	NM_014967.5(FAN1):c.2052+16C>G	noncoding	Benign
15	30920698	C	T	C30920698T	FAN1	NM_014967.5(FAN1):c.2052+45C>T	noncoding	Benign
15	30922182	G	A	G30922182A	FAN1	NM_014967.5(FAN1):c.2053-53G>A	noncoding	Benign
15	30922446	A	G	A30922446G	FAN1	NM_014967.5(FAN1):c.2172+92A>G	noncoding	Benign
15	30922630	G	A	G30922630A	FAN1	NM_014967.5(FAN1):c.2172+276G>A	noncoding	Benign
15	30924908	C	T	C30924908T	FAN1	NM_014967.5(FAN1):c.2173-219C>T	noncoding	Benign
15	30925225	G	C	G30925225C	FAN1	NM_014967.5(FAN1):c.2271G>C:p.Pro757=	coding	Benign
15	30925535	C	T	C30925535T	FAN1	NM_014967.5(FAN1):c.2337+244C>T	noncoding	Benign
15	30925626	C	G	C30925626G	FAN1	NM_014967.5(FAN1):c.2338-163C>G	noncoding	Benign
15	30925709	A	G	A30925709G	FAN1	NM_014967.5(FAN1):c.2338-80A>G	noncoding	Benign
15	30925961	T	C	T30925961C	FAN1	NM_014967.5(FAN1):c.2488+22T>C	noncoding	Benign
15	30928963	C	G	C30928963G	FAN1	NM_014967.5(FAN1):c.2593-240C>G	noncoding	Benign
15	30930382	G	C	G30930382C	FAN1	NM_014967.5(FAN1):c.2788-161G>C	noncoding	Benign
15	30930823	C	G	C30930823G	FAN1	NM_014967.5(FAN1):c.2916+152C>G	noncoding	Benign
15	30937319	T	A	T30937319A	FAN1	NM_014967.5(FAN1):c.*3+60T>A	noncoding	Benign
15	31002029	C	T	C31002029T	TRPM1	NM_001252024.2(TRPM1):c.4671G>A:p.Leu1557=	coding	Benign
15	31002198	C	T	C31002198T	TRPM1	NM_001252024.2(TRPM1):c.4502G>A:p.Arg1501His	coding	Benign/Likely_benign
15	31025871	C	G	C31025871G	TRPM1	NM_001252024.2(TRPM1):c.3629+268G>C	noncoding	Benign
15	31026364	C	T	C31026364T	TRPM1	NM_001252024.2(TRPM1):c.3497-93G>A	noncoding	Benign
15	31028325	C	T	C31028325T	TRPM1	NM_001252024.2(TRPM1):c.3293+7G>A	noncoding	Benign
15	31028500	C	G	C31028500G	TRPM1	NM_001252024.2(TRPM1):c.3149-24G>C	noncoding	Benign
15	31028638	G	A	G31028638A	TRPM1	NM_001252024.2(TRPM1):c.3149-162C>T	noncoding	Benign
15	31029188	A	C	A31029188C	TRPM1	NM_001252024.2(TRPM1):c.3148+183T>G	noncoding	Benign
15	31029253	C	T	C31029253T	TRPM1	NM_001252024.2(TRPM1):c.3148+118G>A	noncoding	Benign
15	31029639	C	T	C31029639T	TRPM1	NM_001252024.2(TRPM1):c.3128-248G>A	noncoding	Benign
15	31029672	G	A	G31029672A	TRPM1	NM_001252024.2(TRPM1):c.3128-281C>T	noncoding	Benign
15	31031119	G	A	G31031119A	TRPM1	NM_001252024.2(TRPM1):c.2991C>T:p.Val997=	coding	Benign/Likely_benign
15	31031469	G	C	G31031469C	TRPM1	NM_001252024.2(TRPM1):c.2953-312C>G	noncoding	Benign
15	31032431	A	T	A31032431T	TRPM1	NM_001252024.2(TRPM1):c.2952+258T>A	noncoding	Benign
15	31032927	T	C	T31032927C	TRPM1	NM_001252024.2(TRPM1):c.2714A>G:p.Glu905Gly	coding	Benign
15	31035544	A	C	A31035544C	TRPM1	NM_001252024.2(TRPM1):c.2700+2T>G	noncoding	Pathogenic
15	31037527	G	A	G31037527A	TRPM1	NM_001252024.2(TRPM1):c.2571+184C>T	noncoding	Benign
15	31037550	G	A	G31037550A	TRPM1	NM_001252024.2(TRPM1):c.2571+161C>T	noncoding	Benign
15	31037739	G	A	G31037739A	TRPM1	NM_001252024.2(TRPM1):c.2543C>T:p.Ala848Val	coding	Pathogenic
15	31038095	A	T	A31038095T	TRPM1	NM_001252024.2(TRPM1):c.2388T>A:p.Tyr796Ter	coding	Pathogenic
15	31039995	G	T	G31039995T	TRPM1	NM_001252024.2(TRPM1):c.2316+123C>A	noncoding	Benign
15	31040036	C	A	C31040036A	TRPM1	NM_001252024.2(TRPM1):c.2316+82G>T	noncoding	Benign
15	31040106	C	T	C31040106T	TRPM1	NM_001252024.2(TRPM1):c.2316+12G>A	noncoding	Benign/Likely_benign
15	31040107	G	A	G31040107A	TRPM1	NM_001252024.2(TRPM1):c.2316+11C>T	noncoding	Benign/Likely_benign
15	31040184	G	T	G31040184T	TRPM1	NM_001252024.2(TRPM1):c.2250C>A:p.Cys750Ter	coding	Pathogenic
15	31040364	G	A	G31040364A	TRPM1	NM_001252024.2(TRPM1):c.2088-18C>T	noncoding	Benign
15	31040615	C	G	C31040615G	TRPM1	NM_001252024.2(TRPM1):c.2088-269G>C	noncoding	Benign
15	31041757	A	G	A31041757G	TRPM1	NM_001252024.2(TRPM1):c.2087+194T>C	noncoding	Benign
15	31041949	A	G	A31041949G	TRPM1	NM_001252024.2(TRPM1):c.2087+2T>C	noncoding	Pathogenic
15	31042025	G	T	G31042025T	TRPM1	NM_001252024.2(TRPM1):c.2013C>A:p.Tyr671Ter	coding	Pathogenic
15	31042076	C	T	C31042076T	TRPM1	NM_001252024.2(TRPM1):c.1962G>A:p.Trp654Ter	coding	Pathogenic
15	31042119	C	T	C31042119T	TRPM1	NM_001252024.2(TRPM1):c.1919G>A:p.Trp640Ter	coding	Pathogenic
15	31042481	C	T	C31042481T	TRPM1	NM_001252024.2(TRPM1):c.1795-238G>A	noncoding	Benign
15	31046158	A	G	A31046158G	TRPM1	NM_001252024.2(TRPM1):c.1794+46T>C	noncoding	Benign
15	31046297	T	G	T31046297G	TRPM1	NM_001252024.2(TRPM1):c.1765-64A>C	noncoding	Benign
15	31046536	G	A	G31046536A	TRPM1	NM_001252024.2(TRPM1):c.1765-303C>T	noncoding	Benign
15	31046846	A	G	A31046846G	TRPM1	NM_001252024.2(TRPM1):c.1764+265T>C	noncoding	Benign
15	31046948	A	C	A31046948C	TRPM1	NM_001252024.2(TRPM1):c.1764+163T>G	noncoding	Benign
15	31047470	A	G	A31047470G	TRPM1	NM_001252024.2(TRPM1):c.1624-219T>C	noncoding	Benign
15	31049161	T	C	T31049161C	TRPM1	NM_001252024.2(TRPM1):c.1572+214A>G	noncoding	Benign
15	31049258	G	A	G31049258A	TRPM1	NM_001252024.2(TRPM1):c.1572+117C>T	noncoding	Benign
15	31049313	C	T	C31049313T	TRPM1	NM_001252024.2(TRPM1):c.1572+62G>A	noncoding	Benign
15	31049381	A	T	A31049381T	TRPM1	NM_001252024.2(TRPM1):c.1566T>A:p.Tyr522Ter	coding	Pathogenic
15	31049399	C	T	C31049399T	TRPM1	NM_001252024.2(TRPM1):c.1548G>A:p.Pro516=	coding	Benign
15	31049570	C	T	C31049570T	TRPM1	NM_001252024.2(TRPM1):c.1438-61G>A	noncoding	Benign
15	31050295	A	T	A31050295T	TRPM1	NM_001252024.2(TRPM1):c.1437+114T>A	noncoding	Benign
15	31050470	C	A	C31050470A	TRPM1	NM_001252024.2(TRPM1):c.1376G>T:p.Gly459Val	coding	Benign
15	31050477	T	A	T31050477A	TRPM1	NM_001252024.2(TRPM1):c.1369A>T:p.Lys457Ter	coding	Pathogenic
15	31050561	G	T	G31050561T	TRPM1	NM_001252024.2(TRPM1):c.1285C>A:p.Pro429Thr	coding	Benign/Likely_benign
15	31050617	A	G	A31050617G	TRPM1	NM_001252024.2(TRPM1):c.1264-35T>C	noncoding	Benign
15	31050882	A	G	A31050882G	TRPM1	NM_001252024.2(TRPM1):c.1264-300T>C	noncoding	Benign
15	31060525	C	T	C31060525T	TRPM1	NM_001252024.2(TRPM1):c.1263+19G>A	noncoding	Benign
15	31060682	C	T	C31060682T	TRPM1	NM_001252024.2(TRPM1):c.1163-38G>A	noncoding	Benign
15	31060780	C	T	C31060780T	TRPM1	NM_001252024.2(TRPM1):c.1163-136G>A	noncoding	Benign
15	31061185	A	G	A31061185G	TRPM1	NM_001252024.2(TRPM1):c.1162+257T>C	noncoding	Benign
15	31062435	C	A	C31062435A	TRPM1	NM_001252024.2(TRPM1):c.1089+144G>T	noncoding	Benign
15	31063405	C	T	C31063405T	TRPM1	NM_001252024.2(TRPM1):c.791-113G>A	noncoding	Benign
15	31066015	G	A	G31066015A	TRPM1	NM_001252024.2(TRPM1):c.790+61C>T	noncoding	Benign
15	31066056	G	A	G31066056A	TRPM1	NM_001252024.2(TRPM1):c.790+20C>T	noncoding	Benign
15	31066121	G	A	G31066121A	TRPM1	NM_001252024.2(TRPM1):c.745C>T:p.Arg249Ter	coding	Pathogenic
15	31066133	C	A	C31066133A	TRPM1	NM_001252024.2(TRPM1):c.733G>T:p.Glu245Ter	coding	Pathogenic
15	31067096	G	A	G31067096A	TRPM1	NM_001252024.2(TRPM1):c.585C>T:p.Ile195=	coding	Benign
15	31067254	T	G	T31067254G	TRPM1	NM_001252024.2(TRPM1):c.494-67A>C	noncoding	Benign
15	31067349	C	T	C31067349T	TRPM1	NM_001252024.2(TRPM1):c.494-162G>A	noncoding	Benign
15	31067389	G	A	G31067389A	TRPM1	NM_001252024.2(TRPM1):c.494-202C>T	noncoding	Benign
15	31067709	T	A	T31067709A	TRPM1	NM_001252024.2(TRPM1):c.493+170A>T	noncoding	Benign
15	31067969	G	A	G31067969A	TRPM1	NM_001252024.2(TRPM1):c.403C>T:p.Gln135Ter	coding	Pathogenic
15	31068354	G	A	G31068354A	TRPM1	NM_001252024.2(TRPM1):c.280-262C>T	noncoding	Benign
15	31069618	C	T	C31069618T	TRPM1	NM_001252024.2(TRPM1):c.279+413G>A	coding	Benign
15	31069945	C	G	C31069945G	TRPM1	NM_001252024.2(TRPM1):c.279+86G>C	coding	Benign
15	31070052	G	A	G31070052A	TRPM1	NM_001252024.2(TRPM1):c.258C>T:p.Gly86=	coding	Benign
15	31070451	G	A	G31070451A	TRPM1	NM_001252024.2(TRPM1):c.84-225C>T	noncoding	Benign
15	31076687	T	C	T31076687C	TRPM1	NM_001252024.2(TRPM1):c.83+218A>G	noncoding	Benign
15	31076712	C	G	C31076712G	TRPM1	NM_001252024.2(TRPM1):c.83+193G>C	noncoding	Benign
15	31077020	C	T	C31077020T	TRPM1	NM_001252024.2(TRPM1):c.4-36G>A	noncoding	Benign
15	31077055	C	T	C31077055T	TRPM1	NM_001252024.2(TRPM1):c.4-71G>A	noncoding	Benign
15	31077154	G	A	G31077154A	TRPM1	NM_001252024.2(TRPM1):c.4-170C>T	noncoding	Benign
15	31077214	C	T	C31077214T	TRPM1	NM_001252024.2(TRPM1):c.4-230G>A	noncoding	Benign
15	31081040	C	T	C31081040T	TRPM1	NM_001252024.2(TRPM1):c.3+313G>A	noncoding	Benign
15	31081315	A	G	A31081315G	TRPM1	NM_001252024.2(TRPM1):c.3+38T>C	noncoding	Benign
15	31081524	T	C	T31081524C	TRPM1	NM_001252024.2(TRPM1):c.-83-86A>G	noncoding	Benign
15	31160708	G	A	G31160708A	TRPM1	NM_001252020.2(TRPM1):c.54+198C>T	noncoding	Benign
15	31160853	T	C	T31160853C	TRPM1	NM_001252020.2(TRPM1):c.54+53A>G	noncoding	Benign
15	31160933	G	A	G31160933A	TRPM1	NM_001252020.2(TRPM1):c.27C>T:p.Leu9_Lys10=	coding	Benign/Likely_benign
15	31160935	G	A	G31160935A	TRPM1	NM_001252020.2(TRPM1):c.25C>T:p.Leu9Phe	coding	Benign
15	31160944	G	A	G31160944A	TRPM1	NM_001252020.2(TRPM1):c.16C>T:p.Arg6Trp	coding	Benign
15	31160992	A	G	A31160992G	TRPM1	NM_001252020.2(TRPM1):c.-33T>C	noncoding	Benign
15	31161360	G	A	G31161360A	TRPM1	Single_allele	noncoding	Benign
15	31483818	T	C	T31483818C	OTUD7A	NM_001382637.1(OTUD7A):c.2278A>G:p.Ser760Gly	coding	Benign
15	32030509	C	T	C32030509T	CHRNA7	NR_046324.1(CHRNA7):n.27C>T	noncoding	Benign
15	32030549	G	T	G32030549T	CHRNA7	NM_000746.6(CHRNA7):c.-46G>T	noncoding	Benign
15	32030726	G	A	G32030726A	CHRNA7	NM_000746.6(CHRNA7):c.55+77G>A	coding	Benign
15	32031251	A	G	A32031251G	CHRNA7	NM_000746.6(CHRNA7):c.195+214A>G	noncoding	Benign
15	32101460	C	A	C32101460A	CHRNA7	NM_000746.6(CHRNA7):c.240+113C>A	noncoding	Benign
15	32157861	C	T	C32157861T	CHRNA7	NM_000746.6(CHRNA7):c.598+86C>T	noncoding	Benign
15	32158290	T	C	T32158290C	CHRNA7	NM_000746.6(CHRNA7):c.599-122T>C	noncoding	Benign
15	32158291	T	C	T32158291C	CHRNA7	NM_000746.6(CHRNA7):c.599-121T>C	noncoding	Benign
15	32158301	T	A	T32158301A	CHRNA7	NM_000746.6(CHRNA7):c.599-111T>A	noncoding	Benign
15	32158627	C	T	C32158627T	CHRNA7	NM_000746.6(CHRNA7):c.793+21C>T	noncoding	Benign
15	32158658	G	C	G32158658C	CHRNA7	NM_000746.6(CHRNA7):c.793+52G>C	noncoding	Benign
15	32158770	G	T	G32158770T	CHRNA7	NM_000746.6(CHRNA7):c.793+164G>T	noncoding	Benign
15	32159440	G	A	G32159440A	CHRNA7	NM_000746.6(CHRNA7):c.794-129G>A	noncoding	Benign
15	32159549	G	A	G32159549A	CHRNA7	NM_000746.6(CHRNA7):c.794-20G>A	noncoding	Benign
15	32163266	G	A	G32163266A	CHRNA7	NM_000746.6(CHRNA7):c.921G>A:p.Ser307=	coding	Benign
15	32163356	A	G	A32163356G	CHRNA7	NM_000746.6(CHRNA7):c.990+21A>G	noncoding	Benign
15	32641754	A	T	A32641754T	SCG5	NM_001144757.3(SCG5):c.-32A>T	noncoding	Benign
15	32641892	G	A	G32641892A	SCG5	NM_001144757.3(SCG5):c.-8+114G>A	noncoding	Benign
15	32643526	T	C	T32643526C	SCG5	NM_001144757.3(SCG5):c.-7-60T>C	noncoding	Benign
15	32643947	T	C	T32643947C	SCG5	NM_001144757.3(SCG5):c.226+129T>C	noncoding	Benign
15	32679557	G	A	G32679557A	SCG5	NM_001144757.3(SCG5):c.227-209G>A	noncoding	Benign
15	32679733	C	T	C32679733T	SCG5	NM_001144757.3(SCG5):c.227-33C>T	noncoding	Benign
15	32680053	G	A	G32680053A	SCG5	NM_001144757.3(SCG5):c.376+138G>A	noncoding	Benign
15	32684900	A	G	A32684900G	SCG5	NM_001144757.3(SCG5):c.489+231A>G	noncoding	Benign
15	32691771	G	A	G32691771A	ARHGAP11A-SCG5;SCG5	NM_001144757.3(SCG5):c.543+8G>A	noncoding	Benign
15	32691995	A	G	A32691995G	SCG5	NM_001144757.3(SCG5):c.543+232A>G	noncoding	Benign
15	32696921	T	A	T32696921A	SCG5	NM_001144757.3(SCG5):c.*312T>A	noncoding	Benign
15	32697046	C	T	C32697046T	SCG5	NM_001144757.3(SCG5):c.*437C>T	noncoding	Benign
15	32717579	C	T	C32717579T	GREM1	Single_allele	noncoding	Benign
15	32717891	G	T	G32717891T	GREM1	Single_allele	noncoding	Benign
15	32718052	G	A	G32718052A	GREM1	NM_013372.7(GREM1):c.-111G>A	noncoding	Benign
15	32718211	G	A	G32718211A	GREM1	NM_013372.7(GREM1):c.-2+50G>A	noncoding	Benign
15	32718282	T	C	T32718282C	GREM1	NM_013372.7(GREM1):c.-2+121T>C	noncoding	Benign
15	32718535	G	A	G32718535A	GREM1	NM_013372.7(GREM1):c.-2+374G>A	noncoding	Benign
15	32718926	G	A	G32718926A	GREM1	NM_013372.7(GREM1):c.-2+765G>A	noncoding	Benign
15	32719440	A	G	A32719440G	GREM1	NM_013372.7(GREM1):c.-2+1279A>G	noncoding	Benign
15	32719496	G	C	G32719496C	GREM1	NM_013372.7(GREM1):c.-2+1335G>C	noncoding	Benign
15	32719650	G	T	G32719650T	GREM1	NM_013372.7(GREM1):c.-2+1489G>T	noncoding	Benign
15	32720031	T	C	T32720031C	GREM1	NM_013372.7(GREM1):c.-2+1870T>C	noncoding	Benign
15	32720301	A	G	A32720301G	GREM1	NM_013372.7(GREM1):c.-2+2140A>G	noncoding	Benign
15	32720437	G	A	G32720437A	GREM1	NM_013372.7(GREM1):c.-2+2276G>A	noncoding	Benign
15	32722094	C	G	C32722094G	GREM1	NM_013372.7(GREM1):c.-2+3933C>G	noncoding	Benign
15	32722246	A	G	A32722246G	GREM1	NM_013372.7(GREM1):c.-2+4085A>G	noncoding	Benign
15	32722569	T	A	T32722569A	GREM1	NM_013372.7(GREM1):c.-2+4408T>A	noncoding	Benign
15	32723005	G	A	G32723005A	GREM1	NM_013372.7(GREM1):c.-2+4844G>A	noncoding	Benign
15	32723201	A	G	A32723201G	GREM1	NM_013372.7(GREM1):c.-2+5040A>G	noncoding	Benign
15	32723259	G	C	G32723259C	GREM1	NM_013372.7(GREM1):c.-2+5098G>C	noncoding	Benign
15	32724277	G	C	G32724277C	GREM1	NM_013372.7(GREM1):c.-2+6116G>C	noncoding	Benign
15	32728678	T	C	T32728678C	GREM1	NM_013372.7(GREM1):c.-1-2012T>C	noncoding	Benign
15	32728727	T	G	T32728727G	GREM1	NM_013372.7(GREM1):c.-1-1963T>G	noncoding	Benign
15	32729159	C	G	C32729159G	GREM1	NM_013372.7(GREM1):c.-1-1531C>G	noncoding	Benign
15	32729189	A	G	A32729189G	GREM1	NM_013372.7(GREM1):c.-1-1501A>G	noncoding	Benign
15	32729266	C	T	C32729266T	GREM1	NM_013372.7(GREM1):c.-1-1424C>T	noncoding	Benign
15	32729710	C	G	C32729710G	GREM1	NM_013372.7(GREM1):c.-1-980C>G	noncoding	Benign
15	32729889	G	A	G32729889A	GREM1	NM_013372.7(GREM1):c.-1-801G>A	noncoding	Benign
15	32730007	C	T	C32730007T	GREM1	NM_013372.7(GREM1):c.-1-683C>T	noncoding	Benign
15	32730381	A	T	A32730381T	GREM1	NM_013372.7(GREM1):c.-1-309A>T	noncoding	Benign
15	32730793	C	G	C32730793G	GREM1	NM_013372.7(GREM1):c.103C>G:p.Pro35Ala	coding	Benign/Likely_benign
15	32731285	C	A	C32731285A	GREM1	NM_013372.7(GREM1):c.*40C>A	noncoding	Benign
15	32731469	C	T	C32731469T	GREM1	NM_013372.7(GREM1):c.*224C>T	noncoding	Benign
15	32731484	A	C	A32731484C	GREM1	NM_013372.7(GREM1):c.*239A>C	noncoding	Benign
15	32774126	G	A	G32774126A	FMN1	NM_001277313.2(FMN1):c.*184C>T	noncoding	Benign
15	32774277	C	T	C32774277T	FMN1	NM_001277313.2(FMN1):c.*33G>A	noncoding	Benign
15	32774381	T	A	T32774381A	FMN1	NM_001277313.2(FMN1):c.4216-27A>T	noncoding	Benign
15	32777103	G	A	G32777103A	FMN1	NM_001277313.2(FMN1):c.4131-184C>T	noncoding	Benign
15	32798683	T	G	T32798683G	FMN1	NM_001277313.2(FMN1):c.4130+121A>C	noncoding	Benign
15	32798878	A	G	A32798878G	FMN1	NM_001277313.2(FMN1):c.4056T>C:p.Phe1352=	coding	Benign
15	32799080	C	A	C32799080A	FMN1	NM_001277313.2(FMN1):c.3981-127G>T	noncoding	Benign
15	32804094	C	T	C32804094T	FMN1	NM_001277313.2(FMN1):c.3980+187G>A	noncoding	Benign
15	32804342	A	G	A32804342G	FMN1	NM_001277313.2(FMN1):c.3929-10T>C	noncoding	Benign
15	32804359	A	T	A32804359T	FMN1	NM_001277313.2(FMN1):c.3929-27T>A	noncoding	Benign
15	32804462	G	C	G32804462C	FMN1	NM_001277313.2(FMN1):c.3929-130C>G	noncoding	Benign
15	32804465	A	G	A32804465G	FMN1	NM_001277313.2(FMN1):c.3929-133T>C	noncoding	Benign
15	32856858	C	T	C32856858T	FMN1	NM_001277313.2(FMN1):c.3928+157G>A	noncoding	Benign
15	32856886	G	A	G32856886A	FMN1	NM_001277313.2(FMN1):c.3928+129C>T	noncoding	Benign
15	32888031	A	G	A32888031G	FMN1	NM_001277313.2(FMN1):c.3835+141T>C	noncoding	Benign
15	32888319	A	G	A32888319G	FMN1	NM_001277313.2(FMN1):c.3715-27T>C	noncoding	Benign
15	32898986	A	G	A32898986G	FMN1	NM_001277313.2(FMN1):c.3655-93T>C	noncoding	Benign
15	32899803	A	C	A32899803C	FMN1	NM_001277313.2(FMN1):c.3654+176T>G	noncoding	Benign
15	32908666	G	A	G32908666A	FMN1	NM_001277313.2(FMN1):c.3289-88C>T	noncoding	Benign
15	32910401	A	G	A32910401G	FMN1	NM_001277313.2(FMN1):c.3288+73T>C	noncoding	Benign
15	32926012	A	G	A32926012G	FMN1	NM_001277313.2(FMN1):c.3226+162T>C	noncoding	Benign
15	32926286	G	T	G32926286T	FMN1	NM_001277313.2(FMN1):c.3139-25C>A	noncoding	Benign
15	32926360	T	C	T32926360C	FMN1	NM_001277313.2(FMN1):c.3139-99A>G	noncoding	Benign
15	32968500	T	C	T32968500C	FMN1	NM_001277313.2(FMN1):c.2987+214A>G	noncoding	Benign
15	32969031	G	A	G32969031A	FMN1	NM_001277313.2(FMN1):c.2670C>T:p.Pro890=	coding	Benign
15	32969118	T	C	T32969118C	FMN1	NM_001277313.2(FMN1):c.2583A>G:p.Ala861=	coding	Benign/Likely_benign
15	32969637	T	C	T32969637C	FMN1	NM_001277313.2(FMN1):c.2224-160A>G	noncoding	Benign
15	33008090	A	C	A33008090C	FMN1	NM_001277313.2(FMN1):c.2162-15T>G	noncoding	Benign
15	33008281	C	T	C33008281T	FMN1	NM_001277313.2(FMN1):c.2162-206G>A	noncoding	Benign
15	33064734	T	G	T33064734G	FMN1	NM_001277313.2(FMN1):c.2161+223A>C	noncoding	Benign
15	33065061	A	G	A33065061G	FMN1	NM_001277313.2(FMN1):c.2057T>C:p.Leu686Pro	coding	Benign
15	33066438	T	C	T33066438C	FMN1	NM_001277313.2(FMN1):c.2044-1364A>G	noncoding	Benign
15	33066791	G	A	G33066791A	FMN1	NM_001277313.2(FMN1):c.2044-1717C>T	coding	Benign
15	33067169	C	T	C33067169T	FMN1	NM_001277313.2(FMN1):c.2044-2095G>A	coding	Benign
15	33067373	C	A	C33067373A	FMN1	NM_001277313.2(FMN1):c.2044-2299G>T	coding	Benign
15	33067544	G	A	G33067544A	FMN1	NM_001277313.2(FMN1):c.2044-2470C>T	coding	Benign
15	33088784	A	C	A33088784C	FMN1	NM_001277313.2(FMN1):c.2043+15T>G	noncoding	Benign
15	33088799	A	T	A33088799T	FMN1	NM_001277313.2(FMN1):c.2043T>A:p.His681Gln	coding	Benign
15	33089080	A	G	A33089080G	FMN1	NM_001277313.2(FMN1):c.1868-106T>C	noncoding	Benign
15	33089085	G	A	G33089085A	FMN1	NM_001277313.2(FMN1):c.1868-111C>T	noncoding	Benign
15	33151417	G	C	G33151417C	FMN1	NM_001277313.2(FMN1):c.1867+1631C>G	noncoding	Benign
15	33152851	T	A	T33152851A	FMN1	NM_001277313.2(FMN1):c.1867+197A>T	noncoding	Benign
15	33153033	T	G	T33153033G	FMN1	NM_001277313.2(FMN1):c.1867+15A>C	noncoding	Benign
15	33153736	A	C	A33153736C	FMN1	NM_001277313.2(FMN1):c.1179T>G:p.Asp393Glu	coding	Benign
15	33153782	G	A	G33153782A	FMN1	NM_001277313.2(FMN1):c.1133C>T:p.Ala378Val	coding	Benign
15	33153798	G	C	G33153798C	FMN1	NM_001277313.2(FMN1):c.1117C>G:p.Leu373Val	coding	Benign
15	33154038	T	A	T33154038A	FMN1	NM_001277313.2(FMN1):c.877A>T:p.Thr293Ser	coding	Benign
15	33154057	G	A	G33154057A	FMN1	NM_001277313.2(FMN1):c.858C>T:p.Ser286=	coding	Benign
15	33154067	C	T	C33154067T	FMN1	NM_001277313.2(FMN1):c.848G>A:p.Arg283Lys	coding	Benign
15	33154100	C	G	C33154100G	FMN1	NM_001277313.2(FMN1):c.815G>C:p.Ser272Thr	coding	Benign
15	33154110	G	C	G33154110C	FMN1	NM_001277313.2(FMN1):c.805C>G:p.Pro269Ala	coding	Benign
15	33154143	T	C	T33154143C	FMN1	NM_001277313.2(FMN1):c.772A>G:p.Lys258Glu	coding	Benign
15	33154187	G	A	G33154187A	FMN1	NM_001277313.2(FMN1):c.728C>T:p.Thr243Met	coding	Benign
15	33154409	A	G	A33154409G	FMN1	NM_001277313.2(FMN1):c.506T>C:p.Phe169Ser	coding	Benign
15	33154547	G	A	G33154547A	FMN1	NM_001277313.2(FMN1):c.368C>T:p.Ser123Phe	coding	Benign
15	33154678	G	T	G33154678T	FMN1	NM_001277313.2(FMN1):c.237C>A:p.Pro79=	coding	Benign
15	33154746	A	C	A33154746C	FMN1	NM_001277313.2(FMN1):c.169T>G:p.Ser57Ala	coding	Benign
15	33154949	C	T	C33154949T	FMN1	NM_001277313.2(FMN1):c.-35G>A	noncoding	Benign
15	33155119	G	A	G33155119A	FMN1	NM_001277313.2(FMN1):c.-131-74C>T	noncoding	Benign
15	33155120	C	A	C33155120A	FMN1	NM_001277313.2(FMN1):c.-131-75G>T	noncoding	Benign
15	33155203	A	G	A33155203G	FMN1	NM_001277313.2(FMN1):c.-131-158T>C	noncoding	Benign
15	33155213	T	C	T33155213C	FMN1	NM_001277313.2(FMN1):c.-131-168A>G	noncoding	Benign
15	33503749	G	A	G33503749A	RYR3	NM_001036.6(RYR3):c.279+11G>A	noncoding	Benign
15	33540865	G	A	G33540865A	RYR3	NM_001036.6(RYR3):c.621G>A:p.Thr207=	coding	Benign
15	33548213	A	G	A33548213G	RYR3	NM_001036.6(RYR3):c.815+9A>G	noncoding	Benign
15	33562968	A	G	A33562968G	RYR3	NM_001036.6(RYR3):c.1104A>G:p.Ala368=	coding	Benign
15	33566734	G	A	G33566734A	RYR3	NM_001036.6(RYR3):c.1203G>A:p.Gln401=	coding	Benign
15	33579976	C	T	C33579976T	RYR3	NM_001036.6(RYR3):c.1269C>T:p.Ser423=	coding	Benign
15	33581550	G	A	G33581550A	RYR3	NM_001036.6(RYR3):c.1480G>A:p.Val494Ile	coding	Benign
15	33586101	C	T	C33586101T	RYR3	NM_001036.6(RYR3):c.1773C>T:p.His591=	coding	Benign
15	33601568	C	T	C33601568T	RYR3	NM_001036.6(RYR3):c.1922+16C>T	noncoding	Benign
15	33613209	A	G	A33613209G	RYR3	NM_001036.6(RYR3):c.2191A>G:p.Ile731Val	coding	Benign
15	33623852	G	C	G33623852C	RYR3	NM_001036.6(RYR3):c.2403G>C:p.Leu801=	coding	Benign
15	33628461	T	C	T33628461C	RYR3	NM_001036.6(RYR3):c.2575-10T>C	noncoding	Benign
15	33659709	T	C	T33659709C	RYR3	NM_001036.6(RYR3):c.4309-11T>C	noncoding	Benign
15	33662451	C	T	C33662451T	RYR3	NM_001036.6(RYR3):c.4921C>T:p.Arg1641Cys	coding	Benign
15	33697995	A	C	A33697995C	RYR3	NM_001036.6(RYR3):c.6248A>C:p.Gln2083Pro	coding	Pathogenic
15	33700962	C	G	C33700962G	RYR3	NM_001036.6(RYR3):c.6380-15C>G	noncoding	Benign
15	33707061	C	G	C33707061G	RYR3	NM_001036.6(RYR3):c.6619+7C>G	noncoding	Benign
15	33722712	C	T	C33722712T	RYR3	NM_001036.6(RYR3):c.6620-3C>T	noncoding	Benign
15	33722812	G	A	G33722812A	RYR3	NM_001036.6(RYR3):c.6717G>A:p.Gly2239=	coding	Benign
15	33724073	G	A	G33724073A	RYR3	NM_001036.6(RYR3):c.6809G>A:p.Gly2270Glu	coding	Benign
15	33739930	G	A	G33739930A	RYR3	NM_001036.6(RYR3):c.7755G>A:p.Thr2585=	coding	Benign
15	33818558	A	G	A33818558G	RYR3	NM_001036.6(RYR3):c.10600-20A>G	noncoding	Benign
15	33820809	C	T	C33820809T	RYR3	NM_001036.6(RYR3):c.10812C>T:p.Phe3604=	coding	Benign
15	33821335	A	G	A33821335G	RYR3	NM_001036.6(RYR3):c.10881A>G:p.Ala3627=	coding	Benign
15	33821620	C	T	C33821620T	RYR3	NM_001036.6(RYR3):c.10995+18C>T	noncoding	Benign
15	33821621	G	A	G33821621A	RYR3	NM_001036.6(RYR3):c.10995+19G>A	noncoding	Benign
15	33823080	C	T	C33823080T	RYR3	NM_001036.6(RYR3):c.11072+8C>T	noncoding	Benign
15	33843475	C	G	C33843475G	RYR3	NM_001036.6(RYR3):c.13210-13C>G	noncoding	Benign
15	33844999	T	G	T33844999G	RYR3	NM_001036.6(RYR3):c.13434T>G:p.Arg4478=	coding	Benign
15	33848278	C	T	C33848278T	RYR3	NM_001036.6(RYR3):c.13498-13C>T	noncoding	Benign
15	33860576	T	A	T33860576A	RYR3	NM_001036.6(RYR3):c.14300-19T>A	noncoding	Benign
15	34233934	G	A	G34233934A	SLC12A6	NM_001365088.1(SLC12A6):c.3400C>T:p.Arg1134Ter	coding	Pathogenic/Likely_pathogenic
15	34236274	G	A	G34236274A	SLC12A6	NM_001365088.1(SLC12A6):c.3043-75C>T	noncoding	Benign
15	34236779	T	C	T34236779C	SLC12A6	NM_001365088.1(SLC12A6):c.2971A>G:p.Thr991Ala	coding	Pathogenic
15	34237575	A	G	A34237575G	SLC12A6	NM_001365088.1(SLC12A6):c.2803-25T>C	noncoding	Benign
15	34238324	C	A	C34238324A	SLC12A6	NM_001365088.1(SLC12A6):c.2710G>T:p.Glu904Ter	coding	Pathogenic
15	34238738	G	A	G34238738A	SLC12A6	NM_001365088.1(SLC12A6):c.2632+227C>T	noncoding	Benign
15	34238979	C	T	C34238979T	SLC12A6	NM_001365088.1(SLC12A6):c.2618G>A:p.Trp873Ter	coding	Pathogenic
15	34240525	C	T	C34240525T	SLC12A6	NM_001365088.1(SLC12A6):c.2436+136G>A	noncoding	Benign
15	34241270	G	A	G34241270A	SLC12A6	NM_001365088.1(SLC12A6):c.2230C>T:p.Arg744Ter	coding	Pathogenic
15	34242107	G	C	G34242107C	SLC12A6	NM_001365088.1(SLC12A6):c.2157C>G:p.Tyr719Ter	coding	Pathogenic
15	34242122	G	C	G34242122C	SLC12A6	NM_001365088.1(SLC12A6):c.2142C>G:p.Tyr714Ter	coding	Pathogenic
15	34242311	T	G	T34242311G	SLC12A6	NM_001365088.1(SLC12A6):c.2043-90A>C	noncoding	Benign
15	34243942	G	T	G34243942T	SLC12A6	NM_001365088.1(SLC12A6):c.2042+32C>A	noncoding	Benign
15	34243980	T	C	T34243980C	SLC12A6	NM_001365088.1(SLC12A6):c.2036A>G:p.Tyr679Cys	coding	Pathogenic
15	34243980	T	G	T34243980G	SLC12A6	NM_001365088.1(SLC12A6):c.2036A>C:p.Tyr679Ser	coding	Pathogenic
15	34244001	C	T	C34244001T	SLC12A6	NM_001365088.1(SLC12A6):c.2015G>A:p.Trp672Ter	coding	Pathogenic
15	34244054	G	T	G34244054T	SLC12A6	NM_001365088.1(SLC12A6):c.1962C>A:p.Tyr654Ter	coding	Pathogenic
15	34244098	G	A	G34244098A	SLC12A6	NM_001365088.1(SLC12A6):c.1944-26C>T	noncoding	Benign
15	34245541	C	A	C34245541A	SLC12A6	NM_001365088.1(SLC12A6):c.1825-138G>T	noncoding	Benign
15	34246095	G	A	G34246095A	SLC12A6	NM_001365088.1(SLC12A6):c.1650-228C>T	noncoding	Benign
15	34250260	A	G	A34250260G	SLC12A6	NM_001365088.1(SLC12A6):c.1649+38T>C	noncoding	Benign
15	34252073	G	T	G34252073T	SLC12A6	NM_001365088.1(SLC12A6):c.1333+97C>A	noncoding	Benign
15	34252352	G	C	G34252352C	SLC12A6	NM_001365088.1(SLC12A6):c.1151C>G:p.Ser384Ter	coding	Pathogenic
15	34254066	A	C	A34254066C	SLC12A6	NM_001365088.1(SLC12A6):c.1118+282T>G	noncoding	Benign
15	34254574	G	A	G34254574A	SLC12A6	NM_001365088.1(SLC12A6):c.892C>T:p.Arg298Ter	coding	Pathogenic
15	34255273	C	T	C34255273T	SLC12A6	NM_001365088.1(SLC12A6):c.865G>A:p.Glu289Lys	coding	Pathogenic
15	34257782	G	A	G34257782A	SLC12A6	NM_001365088.1(SLC12A6):c.550C>T:p.Gln184Ter	coding	Pathogenic
15	34258561	C	A	C34258561A	SLC12A6	NM_001365088.1(SLC12A6):c.543+252G>T	noncoding	Benign
15	34259061	C	T	C34259061T	SLC12A6	NM_001365088.1(SLC12A6):c.412-117G>A	noncoding	Benign
15	34260690	T	C	T34260690C	SLC12A6	NM_001365088.1(SLC12A6):c.411+236A>G	noncoding	Benign
15	34260791	T	C	T34260791C	SLC12A6	NM_001365088.1(SLC12A6):c.411+135A>G	noncoding	Benign
15	34260971	A	C	A34260971C	SLC12A6	NM_001365088.1(SLC12A6):c.366T>G:p.Tyr122Ter	coding	Pathogenic
15	34275363	C	A	C34275363A	SLC12A6	NM_001365088.1(SLC12A6):c.298G>T:p.Glu100Ter	coding	Pathogenic/Likely_pathogenic
15	34318376	T	A	T34318376A	SLC12A6	NM_001365088.1(SLC12A6):c.271+18034A>T	noncoding	Benign
15	34318763	G	C	G34318763C	SLC12A6	NM_001365088.1(SLC12A6):c.271+17647C>G	coding	Benign
15	34319025	G	C	G34319025C	SLC12A6	NM_001365088.1(SLC12A6):c.271+17385C>G	noncoding	Benign
15	34336369	C	G	C34336369G	SLC12A6	NM_001365088.1(SLC12A6):c.271+41G>C	noncoding	Benign
15	34338196	G	A	G34338196A	SLC12A6	Single_allele	noncoding	Benign
15	34342119	A	G	A34342119G	NOP10	NM_018648.4(NOP10):c.55-11T>C	noncoding	Benign/Likely_benign
15	34342999	C	T	C34342999T	NOP10	NM_018648.4(NOP10):c.54+21G>A	noncoding	Benign
15	34343168	A	G	A34343168G	NOP10	NM_018648.3(NOP10):c.-95T>C	noncoding	Benign/Likely_benign
15	34788738	G	A	G34788738A	ACTC1	NM_005159.4(ACTC1):c.*1674C>T	noncoding	Benign/Likely_benign
15	34790111	C	T	C34790111T	ACTC1	Single_allele	noncoding	Benign
15	34790188	C	T	C34790188T	ACTC1	Single_allele	noncoding	Benign
15	34790275	T	A	T34790275A	ACTC1	NM_005159.5(ACTC1):c.*137A>T	noncoding	Benign/Likely_benign
15	34790296	C	T	C34790296T	ACTC1	NM_005159.5(ACTC1):c.*116G>A	noncoding	Benign
15	34790390	G	A	G34790390A	ACTC1	NM_005159.5(ACTC1):c.*22C>T	noncoding	Benign/Likely_benign
15	34790478	T	C	T34790478C	ACTC1	NM_005159.5(ACTC1):c.1068A>G:p.Gln356=	coding	Benign
15	34790496	A	T	A34790496T	ACTC1	NM_005159.5(ACTC1):c.1050T>A:p.Ser350=	coding	Benign
15	34791293	T	C	T34791293C	ACTC1	NM_005159.5(ACTC1):c.811A>G:p.Met271Val	coding	Pathogenic
15	34791362	C	T	C34791362T	ACTC1	NM_005159.5(ACTC1):c.809-67G>A	noncoding	Benign
15	34792014	C	G	C34792014G	ACTC1	NM_005159.5(ACTC1):c.808+76G>C	noncoding	Benign
15	34792158	C	T	C34792158T	ACTC1	NM_005159.5(ACTC1):c.740G>A:p.Gly247Asp	coding	Pathogenic/Likely_pathogenic
15	34792288	A	G	A34792288G	ACTC1	NM_005159.5(ACTC1):c.617-7T>C	noncoding	Benign/Likely_benign
15	34792487	A	G	A34792487G	ACTC1	NM_005159.5(ACTC1):c.537T>C:p.Arg179=	coding	Benign/Likely_benign
15	34792617	C	G	C34792617G	ACTC1	NM_005159.5(ACTC1):c.455-48G>C	noncoding	Benign
15	34793381	C	T	C34793381T	ACTC1	NM_005159.5(ACTC1):c.318G>A:p.Leu106=	coding	Benign/Likely_benign
15	34793459	G	A	G34793459A	ACTC1	NM_005159.5(ACTC1):c.240C>T:p.Asn80=	coding	Benign/Likely_benign
15	34793578	A	G	A34793578G	ACTC1	NM_005159.5(ACTC1):c.130-9T>C	noncoding	Benign/Likely_benign
15	34794672	A	G	A34794672G	ACTC1	NM_005159.5(ACTC1):c.129+8T>C	noncoding	Benign
15	34794725	C	A	C34794725A	ACTC1	NM_005159.5(ACTC1):c.84G>T:p.Ala28=	coding	Benign/Likely_benign
15	34795142	C	A	C34795142A	ACTC1	NM_005159.5(ACTC1):c.-22-312G>T	noncoding	Benign
15	34795521	T	G	T34795521G	ACTC1	NM_005159.5(ACTC1):c.-38A>C	noncoding	Benign
15	34795533	C	T	C34795533T	ACTC1	NM_005159.5(ACTC1):c.-50G>A	noncoding	Benign/Likely_benign
15	36579272	C	T	C36579272T	CDIN1	Single_allele	noncoding	Benign
15	36579275	G	T	G36579275T	CDIN1	Single_allele	noncoding	Benign
15	36579408	C	T	C36579408T	CDIN1	Single_allele	noncoding	Benign
15	36579414	G	A	G36579414A	CDIN1	Single_allele	noncoding	Benign
15	36579756	C	T	C36579756T	CDIN1	NM_001321759.2(CDIN1):c.-105C>T	noncoding	Benign
15	36580168	T	C	T36580168C	CDIN1	NM_001321759.2(CDIN1):c.101+207T>C	noncoding	Benign
15	36644592	C	T	C36644592T	CDIN1	NM_001321759.2(CDIN1):c.147+269C>T	noncoding	Benign
15	36645405	A	C	A36645405C	CDIN1	NM_001321759.2(CDIN1):c.212+118A>C	noncoding	Benign
15	36653952	G	A	G36653952A	CDIN1	NM_001321759.2(CDIN1):c.213-146G>A	noncoding	Benign
15	36653975	A	G	A36653975G	CDIN1	NM_001321759.2(CDIN1):c.213-123A>G	noncoding	Benign
15	36654240	C	T	C36654240T	CDIN1	NM_001321759.2(CDIN1):c.273+82C>T	noncoding	Benign
15	36657751	T	A	T36657751A	CDIN1	NM_001321759.2(CDIN1):c.274-82T>A	noncoding	Benign
15	36658160	A	T	A36658160T	CDIN1	NM_001321759.2(CDIN1):c.346+255A>T	noncoding	Benign
15	36691790	A	G	A36691790G	CDIN1	NM_001321759.2(CDIN1):c.426+26A>G	noncoding	Benign
15	36692208	T	C	T36692208C	CDIN1	NM_001321759.2(CDIN1):c.476+33T>C	noncoding	Benign
15	36697268	G	A	G36697268A	CDIN1	NM_001321759.2(CDIN1):c.477-55G>A	noncoding	Benign
15	36708986	G	T	G36708986T	CDIN1	NM_001321759.2(CDIN1):c.545-237G>T	noncoding	Benign
15	36709544	A	T	A36709544T	CDIN1	NM_001321759.2(CDIN1):c.610+256A>T	noncoding	Benign
15	36709601	C	T	C36709601T	CDIN1	NM_001321759.2(CDIN1):c.611-255C>T	noncoding	Benign
15	36709632	A	G	A36709632G	CDIN1	NM_001321759.2(CDIN1):c.611-224A>G	noncoding	Benign
15	36709686	G	C	G36709686C	CDIN1	NM_001321759.2(CDIN1):c.611-170G>C	noncoding	Benign
15	36896672	C	T	C36896672T	MEIS2	NM_170675.5(MEIS2):c.992G>A:p.Arg331Lys	coding	Pathogenic
15	36950322	A	C	A36950322C	MEIS2	NM_170675.5(MEIS2):c.977+2T>G	noncoding	Pathogenic
15	37057601	T	C	T37057601C	MEIS2	NM_170675.5(MEIS2):c.755-20642A>G	noncoding	Benign
15	37083774	G	A	G37083774A	MEIS2	NM_170675.5(MEIS2):c.751C>T:p.Gln251Ter	coding	Pathogenic
15	37083870	G	A	G37083870A	MEIS2	NM_170675.5(MEIS2):c.655C>T:p.Arg219Ter	coding	Pathogenic
15	37093580	C	T	C37093580T	MEIS2	NM_170675.5(MEIS2):c.639+1G>A	noncoding	Pathogenic
15	37093640	C	T	C37093640T	MEIS2	NM_170675.5(MEIS2):c.580G>A:p.Gly194Ser	coding	Benign
15	37093700	G	A	G37093700A	MEIS2	NM_170675.5(MEIS2):c.520C>T:p.Arg174Ter	coding	Pathogenic
15	37098188	C	A	C37098188A	MEIS2	NM_170675.5(MEIS2):c.24G>T:p.Leu8=	coding	Benign
15	37098218	G	T	G37098218T	MEIS2	NM_170675.5(MEIS2):c.13-19C>A	coding	Benign
15	38253211	A	T	A38253211T	SPRED1	NM_152594.3(SPRED1):c.26A>T:p.Asp9Val	coding	Benign/Likely_benign
15	38253215	C	A	C38253215A	SPRED1	NM_152594.3(SPRED1):c.30C>A:p.Asn10Lys	coding	Benign/Likely_benign
15	38299488	C	T	C38299488T	SPRED1	NM_152594.3(SPRED1):c.148C>T:p.Gln50Ter	coding	Pathogenic
15	38299562	A	G	A38299562G	SPRED1	NM_152594.3(SPRED1):c.207+15A>G	noncoding	Benign/Likely_benign
15	38299584	A	G	A38299584G	SPRED1	NM_152594.3(SPRED1):c.207+37A>G	noncoding	Benign/Likely_benign
15	38322262	A	T	A38322262T	SPRED1	NM_152594.3(SPRED1):c.229A>T:p.Lys77Ter	coding	Pathogenic
15	38322323	A	G	A38322323G	SPRED1	NM_152594.3(SPRED1):c.290A>G:p.Lys97Arg	coding	Benign
15	38322338	C	G	C38322338G	SPRED1	NM_152594.3(SPRED1):c.305C>G:p.Thr102Arg	coding	Pathogenic/Likely_pathogenic
15	38324771	G	T	G38324771T	SPRED1	NM_152594.3(SPRED1):c.385G>T:p.Glu129Ter	coding	Pathogenic
15	38324861	C	A	C38324861A	SPRED1	NM_152594.3(SPRED1):c.423+52C>A	noncoding	Benign
15	38349452	C	T	C38349452T	SPRED1	NM_152594.3(SPRED1):c.613C>T:p.Gln205Ter	coding	Pathogenic
15	38351006	T	C	T38351006C	SPRED1	NM_152594.3(SPRED1):c.685-8T>C	noncoding	Benign/Likely_benign
15	38351112	C	A	C38351112A	SPRED1	NM_152594.3(SPRED1):c.783C>A:p.Tyr261Ter	coding	Pathogenic
15	38351170	C	T	C38351170T	SPRED1	NM_152594.3(SPRED1):c.841C>T:p.Gln281Ter	coding	Pathogenic
15	38351340	C	A	C38351340A	SPRED1	NM_152594.3(SPRED1):c.1011C>A:p.Tyr337Ter	coding	Pathogenic
15	38351375	G	C	G38351375C	SPRED1	NM_152594.3(SPRED1):c.1046G>C:p.Arg349Thr	coding	Benign
15	38351504	C	A	C38351504A	SPRED1	NM_152594.3(SPRED1):c.1175C>A:p.Ser392Ter	coding	Pathogenic
15	38351554	G	T	G38351554T	SPRED1	NM_152594.3(SPRED1):c.1225G>T:p.Ala409Ser	coding	Benign
15	38351555	C	T	C38351555T	SPRED1	NM_152594.3(SPRED1):c.1226C>T:p.Ala409Val	coding	Benign
15	38494461	C	T	C38494461T	RASGRP1	NM_005739.4(RASGRP1):c.2180G>A:p.Trp727Ter	coding	Pathogenic
15	38498942	G	T	G38498942T	RASGRP1	NM_005739.4(RASGRP1):c.1725C>A:p.Cys575Ter	coding	Pathogenic
15	38501193	G	A	G38501193A	RASGRP1	NM_005739.4(RASGRP1):c.1633C>T:p.Gln545Ter	coding	Pathogenic
15	38502365	A	G	A38502365G	RASGRP1	NM_005739.4(RASGRP1):c.1485T>C:p.Phe495=	coding	Benign
15	38502371	T	C	T38502371C	RASGRP1	NM_005739.4(RASGRP1):c.1479A>G:p.Glu493=	coding	Benign
15	38502404	A	G	A38502404G	RASGRP1	NM_005739.4(RASGRP1):c.1446T>C:p.Tyr482=	coding	Benign
15	38507957	G	A	G38507957A	RASGRP1	NM_005739.4(RASGRP1):c.1011C>T:p.Tyr337=	coding	Benign
15	38507975	C	G	C38507975G	RASGRP1	NM_005739.4(RASGRP1):c.993G>C:p.Leu331=	coding	Benign
15	38511694	A	G	A38511694G	RASGRP1	NM_005739.4(RASGRP1):c.876T>C:p.Asn292=	coding	Benign
15	38511734	G	A	G38511734A	RASGRP1	NM_005739.4(RASGRP1):c.850-14C>T	noncoding	Benign
15	38512831	C	T	C38512831T	RASGRP1	NM_005739.4(RASGRP1):c.801G>A:p.Thr267=	coding	Benign
15	38512972	C	A	C38512972A	RASGRP1	NM_005739.4(RASGRP1):c.676-16G>T	noncoding	Benign
15	38516358	G	C	G38516358C	RASGRP1	NM_005739.4(RASGRP1):c.522-8C>G	noncoding	Benign
15	38518318	A	G	A38518318G	RASGRP1	NM_005739.4(RASGRP1):c.495T>C:p.His165=	coding	Benign
15	38518384	G	A	G38518384A	RASGRP1	NM_005739.4(RASGRP1):c.429C>T:p.Asp143=	coding	Benign
15	38519372	G	C	G38519372C	RASGRP1	NM_005739.4(RASGRP1):c.327-1C>G	coding	Pathogenic
15	38554477	C	T	C38554477T	RASGRP1	NM_005739.4(RASGRP1):c.220+5344G>A	noncoding	Benign
15	38558061	T	C	T38558061C	RASGRP1	NM_005739.4(RASGRP1):c.220+1760A>G	noncoding	Benign
15	39933819	G	A	G39933819A	EIF2AK4	Single_allele	noncoding	Benign
15	39934090	G	A	G39934090A	EIF2AK4	Single_allele	noncoding	Benign
15	39934184	C	A	C39934184A	EIF2AK4	NM_001013703.4(EIF2AK4):c.-12C>A	noncoding	Benign
15	39943372	G	T	G39943372T	EIF2AK4	NM_001013703.4(EIF2AK4):c.258-11G>T	noncoding	Benign
15	39943426	G	T	G39943426T	EIF2AK4	NM_001013703.4(EIF2AK4):c.301G>T:p.Glu101Ter	coding	Pathogenic
15	39948936	A	G	A39948936G	EIF2AK4	NM_001013703.4(EIF2AK4):c.361-180A>G	noncoding	Benign
15	39953635	A	C	A39953635C	EIF2AK4	NM_001013703.4(EIF2AK4):c.514-269A>C	noncoding	Benign
15	39953648	A	G	A39953648G	EIF2AK4	NM_001013703.4(EIF2AK4):c.514-256A>G	noncoding	Benign
15	39954188	A	G	A39954188G	EIF2AK4	NM_001013703.4(EIF2AK4):c.594+204A>G	noncoding	Benign
15	39955921	G	A	G39955921A	EIF2AK4	NM_001013703.4(EIF2AK4):c.743+153G>A	noncoding	Benign
15	39966128	A	C	A39966128C	EIF2AK4	NM_001013703.4(EIF2AK4):c.1017+285A>C	noncoding	Benign
15	39967361	A	G	A39967361G	EIF2AK4	NM_001013703.4(EIF2AK4):c.1035A>G:p.Thr345=	coding	Benign
15	39968007	C	T	C39968007T	EIF2AK4	NM_001013703.4(EIF2AK4):c.1553+128C>T	noncoding	Benign
15	39968122	G	A	G39968122A	EIF2AK4	NM_001013703.4(EIF2AK4):c.1553+243G>A	noncoding	Benign
15	39973109	T	G	T39973109G	EIF2AK4	NM_001013703.4(EIF2AK4):c.1660+95T>G	noncoding	Benign
15	39973302	C	A	C39973302A	EIF2AK4	NM_001013703.4(EIF2AK4):c.1660+288C>A	noncoding	Benign
15	39973387	C	T	C39973387T	EIF2AK4	NM_001013703.4(EIF2AK4):c.1661-205C>T	noncoding	Benign
15	39976225	G	C	G39976225C	EIF2AK4	NM_001013703.4(EIF2AK4):c.1819-189G>C	noncoding	Benign
15	39976343	G	A	G39976343A	EIF2AK4	NM_001013703.4(EIF2AK4):c.1819-71G>A	noncoding	Benign
15	39976563	C	T	C39976563T	EIF2AK4	NM_001013703.4(EIF2AK4):c.1968C>T:p.Ile656=	coding	Benign/Likely_benign
15	39977132	T	C	T39977132C	EIF2AK4	NM_001013703.4(EIF2AK4):c.2249+288T>C	noncoding	Benign
15	39978437	A	G	A39978437G	EIF2AK4	NM_001013703.4(EIF2AK4):c.2319+290A>G	noncoding	Benign
15	39985703	G	A	G39985703A	EIF2AK4	NM_001013703.4(EIF2AK4):c.2320-102G>A	noncoding	Benign
15	39985900	G	A	G39985900A	EIF2AK4	NM_001013703.4(EIF2AK4):c.2403+12G>A	noncoding	Benign/Likely_benign
15	39988010	C	T	C39988010T	EIF2AK4	NM_001013703.4(EIF2AK4):c.2431C>T:p.Arg811Ter	coding	Pathogenic
15	39992648	T	C	T39992648C	EIF2AK4	NM_001013703.4(EIF2AK4):c.2687-121T>C	noncoding	Benign
15	39997407	C	G	C39997407G	EIF2AK4	NM_001013703.4(EIF2AK4):c.2868+342C>G	noncoding	Benign
15	39998505	G	A	G39998505A	EIF2AK4	NM_001013703.4(EIF2AK4):c.2869-226G>A	noncoding	Benign
15	39998929	C	G	C39998929G	EIF2AK4	NM_001013703.4(EIF2AK4):c.2922+145C>G	noncoding	Benign
15	39999078	T	C	T39999078C	EIF2AK4	NM_001013703.4(EIF2AK4):c.2922+294T>C	noncoding	Benign
15	40000821	T	C	T40000821C	EIF2AK4	NM_001013703.4(EIF2AK4):c.2923-167T>C	noncoding	Benign
15	40001236	C	A	C40001236A	EIF2AK4	NM_001013703.4(EIF2AK4):c.3159+12C>A	noncoding	Benign
15	40001329	T	C	T40001329C	EIF2AK4	NM_001013703.4(EIF2AK4):c.3159+105T>C	noncoding	Benign
15	40003551	T	C	T40003551C	EIF2AK4	NM_001013703.4(EIF2AK4):c.3357+237T>C	noncoding	Benign
15	40006815	C	T	C40006815T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3358-201C>T	noncoding	Benign
15	40007713	T	C	T40007713C	EIF2AK4	NM_001013703.4(EIF2AK4):c.3408-314T>C	noncoding	Benign
15	40007854	A	G	A40007854G	EIF2AK4	NM_001013703.4(EIF2AK4):c.3408-173A>G	noncoding	Benign
15	40007920	C	T	C40007920T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3408-107C>T	noncoding	Benign
15	40008242	T	G	T40008242G	EIF2AK4	NM_001013703.4(EIF2AK4):c.3576+47T>G	noncoding	Benign
15	40008346	T	C	T40008346C	EIF2AK4	NM_001013703.4(EIF2AK4):c.3576+151T>C	noncoding	Benign
15	40008490	G	T	G40008490T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3576+295G>T	noncoding	Benign
15	40010042	C	T	C40010042T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3693+312C>T	noncoding	Benign
15	40011641	G	A	G40011641A	EIF2AK4	NM_001013703.4(EIF2AK4):c.3759+295G>A	noncoding	Benign
15	40016447	A	C	A40016447C	EIF2AK4	NM_001013703.4(EIF2AK4):c.3760-55A>C	noncoding	Benign
15	40017503	A	T	A40017503T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4065+261A>T	noncoding	Benign
15	40019011	G	A	G40019011A	EIF2AK4	NM_001013703.4(EIF2AK4):c.4066-82G>A	noncoding	Benign
15	40020913	T	C	T40020913C	EIF2AK4	NM_001013703.4(EIF2AK4):c.4188T>C:p.Ser1396=	coding	Benign
15	40021185	A	G	A40021185G	EIF2AK4	NM_001013703.4(EIF2AK4):c.4302+158A>G	noncoding	Benign
15	40022766	C	G	C40022766G	EIF2AK4	NM_001013703.4(EIF2AK4):c.4389+161C>G	noncoding	Benign
15	40029150	C	A	C40029150A	EIF2AK4	NM_001013703.4(EIF2AK4):c.4503-256C>A	noncoding	Benign
15	40030259	C	T	C40030259T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4562-100C>T	noncoding	Benign
15	40032178	C	T	C40032178T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4669C>T:p.Arg1557Ter	coding	Pathogenic
15	40032280	T	C	T40032280C	EIF2AK4	NM_001013703.4(EIF2AK4):c.4728+43T>C	noncoding	Benign
15	40032528	G	A	G40032528A	EIF2AK4	NM_001013703.4(EIF2AK4):c.4729-229G>A	noncoding	Benign
15	40160761	A	C	A40160761C	BUB1B	Single_allele	noncoding	Benign
15	40160857	G	T	G40160857T	BUB1B	Single_allele	noncoding	Benign
15	40160874	G	A	G40160874A	BUB1B	Single_allele	noncoding	Benign
15	40160927	C	T	C40160927T	BUB1B	Single_allele	noncoding	Benign
15	40160954	A	G	A40160954G	BUB1B	Single_allele	noncoding	Benign
15	40161106	A	G	A40161106G	BUB1B	NM_001211.6(BUB1B):c.-115A>G	noncoding	Benign
15	40161296	G	A	G40161296A	BUB1B	NM_001211.6(BUB1B):c.35+41G>A	noncoding	Benign
15	40164841	A	C	A40164841C	BUB1B	NM_001211.6(BUB1B):c.36-212A>C	noncoding	Benign
15	40164928	A	C	A40164928C	BUB1B	NM_001211.6(BUB1B):c.36-125A>C	noncoding	Benign
15	40165186	C	T	C40165186T	BUB1B	NM_001211.6(BUB1B):c.169C>T:p.Gln57Ter	coding	Pathogenic
15	40165230	A	C	A40165230C	BUB1B	NM_001211.6(BUB1B):c.179+34A>C	noncoding	Benign
15	40165434	C	T	C40165434T	BUB1B	NM_001211.6(BUB1B):c.179+238C>T	noncoding	Benign
15	40170027	A	G	A40170027G	BUB1B	NM_001211.6(BUB1B):c.180-35A>G	noncoding	Benign
15	40170081	C	T	C40170081T	BUB1B	NM_001211.6(BUB1B):c.199C>T:p.Arg67Ter	coding	Pathogenic
15	40170853	A	T	A40170853T	BUB1B	NM_001211.6(BUB1B):c.384+172A>T	noncoding	Benign
15	40176354	T	C	T40176354C	BUB1B	NM_001211.6(BUB1B):c.385-123T>C	noncoding	Benign
15	40183898	C	T	C40183898T	BUB1B	NM_001211.6(BUB1B):c.751+15C>T	noncoding	Benign
15	40184185	A	G	A40184185G	BUB1B	NM_001211.6(BUB1B):c.751+302A>G	noncoding	Benign
15	40185212	C	T	C40185212T	BUB1B	NM_001211.6(BUB1B):c.799C>T:p.Gln267Ter	coding	Pathogenic
15	40185290	C	T	C40185290T	BUB1B	NM_001211.6(BUB1B):c.877C>T:p.Gln293Ter	coding	Pathogenic
15	40199572	T	C	T40199572C	BUB1B	NM_001211.6(BUB1B):c.1289-43T>C	noncoding	Benign
15	40199624	T	A	T40199624A	BUB1B	NM_001211.6(BUB1B):c.1298T>A:p.Leu433Ter	coding	Pathogenic
15	40199751	A	G	A40199751G	BUB1B	NM_001211.6(BUB1B):c.1401+24A>G	noncoding	Benign
15	40199816	C	T	C40199816T	BUB1B	NM_001211.6(BUB1B):c.1401+89C>T	noncoding	Benign
15	40199870	C	T	C40199870T	BUB1B	NM_001211.6(BUB1B):c.1401+143C>T	noncoding	Benign
15	40200120	G	T	G40200120T	BUB1B	NM_001211.6(BUB1B):c.1402-124G>T	noncoding	Benign
15	40200283	C	T	C40200283T	BUB1B	NM_001211.6(BUB1B):c.1441C>T:p.Gln481Ter	coding	Pathogenic
15	40202297	G	A	G40202297A	BUB1B	NM_001211.6(BUB1B):c.1568-108G>A	noncoding	Benign
15	40202751	A	T	A40202751T	BUB1B	NM_001211.6(BUB1B):c.1734+57A>T	noncoding	Benign
15	40202759	A	C	A40202759C	BUB1B	NM_001211.6(BUB1B):c.1734+65A>C	noncoding	Benign
15	40202866	C	A	C40202866A	BUB1B	NM_001211.6(BUB1B):c.1734+172C>A	noncoding	Benign
15	40205971	T	C	T40205971C	BUB1B	NM_001211.6(BUB1B):c.1735-213T>C	noncoding	Benign
15	40210159	C	G	C40210159G	BUB1B	NM_001211.6(BUB1B):c.2334C>G:p.Tyr778Ter	coding	Pathogenic
15	40212311	C	G	C40212311G	BUB1B	NM_001211.6(BUB1B):c.2386-188C>G	noncoding	Benign
15	40212554	G	A	G40212554A	BUB1B	NM_001211.6(BUB1B):c.2441G>A:p.Arg814His	coding	Pathogenic/Likely_pathogenic
15	40212877	A	G	A40212877G	BUB1B	NM_001211.6(BUB1B):c.2535+229A>G	noncoding	Benign
15	40213079	C	A	C40213079A	BUB1B	NM_001211.6(BUB1B):c.2536-253C>A	noncoding	Benign
15	40213218	T	C	T40213218C	BUB1B	NM_001211.6(BUB1B):c.2536-114T>C	noncoding	Benign
15	40213228	T	C	T40213228C	BUB1B	NM_001211.6(BUB1B):c.2536-104T>C	noncoding	Benign
15	40217855	T	C	T40217855C	BUB1B	NM_001211.6(BUB1B):c.2850+188T>C	noncoding	Benign
15	40218139	A	G	A40218139G	BUB1B	NM_001211.6(BUB1B):c.2851-317A>G	noncoding	Benign
15	40218325	A	G	A40218325G	BUB1B	NM_001211.6(BUB1B):c.2851-131A>G	noncoding	Benign
15	40218439	G	A	G40218439A	BUB1B	NM_001211.6(BUB1B):c.2851-17G>A	noncoding	Benign
15	40218481	T	G	T40218481G	BUB1B	NM_001211.6(BUB1B):c.2876T>G:p.Leu959Ter	coding	Pathogenic
15	40220870	A	G	A40220870G	BUB1B	NM_001211.6(BUB1B):c.*111A>G	noncoding	Benign
15	40405936	G	A	G40405936A	IVD	NM_002225.5(IVD):c.109G>A:p.Asp37Asn	coding	Pathogenic
15	40406027	A	G	A40406027G	IVD	NM_002225.5(IVD):c.144+56A>G	noncoding	Benign
15	40407639	C	T	C40407639T	IVD	NM_002225.5(IVD):c.148C>T:p.Arg50Cys	coding	Pathogenic/Likely_pathogenic
15	40407696	G	A	G40407696A	IVD	NM_002225.5(IVD):c.205G>A:p.Asp69Asn	coding	Pathogenic
15	40407823	C	T	C40407823T	IVD	NM_002225.5(IVD):c.234+98C>T	noncoding	Benign
15	40407920	T	C	T40407920C	IVD	NM_002225.5(IVD):c.235-19T>C	noncoding	Benign/Likely_benign
15	40407946	G	A	G40407946A	IVD	NM_002225.5(IVD):c.242G>A:p.Trp81Ter	coding	Pathogenic
15	40408284	T	G	T40408284G	IVD	NM_002225.5(IVD):c.286+294T>G	noncoding	Benign
15	40410310	T	C	T40410310C	IVD	NM_002225.5(IVD):c.287-318T>C	noncoding	Benign
15	40410690	C	T	C40410690T	IVD	NM_002225.5(IVD):c.349C>T:p.Arg117Ter	coding	Pathogenic/Likely_pathogenic
15	40411012	A	G	A40411012G	IVD	NM_002225.5(IVD):c.456+215A>G	noncoding	Benign
15	40411140	C	T	C40411140T	IVD	NM_002225.5(IVD):c.457-120C>T	noncoding	Benign
15	40411344	G	T	G40411344T	IVD	NM_002225.5(IVD):c.541G>T:p.Glu181Ter	coding	Pathogenic
15	40411537	C	T	C40411537T	IVD	NM_002225.5(IVD):c.551-18C>T	noncoding	Benign/Likely_benign
15	40411601	C	T	C40411601T	IVD	NM_002225.5(IVD):c.597C>T:p.Gly199=	coding	Benign
15	40412906	A	G	A40412906G	IVD	NM_002225.5(IVD):c.688-85A>G	noncoding	Benign
15	40413218	G	A	G40413218A	IVD	NM_002225.5(IVD):c.784+131G>A	noncoding	Benign
15	40415257	C	T	C40415257T	IVD	NM_002225.5(IVD):c.879-144C>T	noncoding	Benign
15	40416319	T	C	T40416319C	IVD	NM_002225.5(IVD):c.1095T>C:p.Ala365=	coding	Benign/Likely_benign
15	40416371	T	G	T40416371G	IVD	NM_002225.5(IVD):c.1138+9T>G	noncoding	Benign/Likely_benign
15	40417902	G	T	G40417902T	IVD	NM_002225.5(IVD):c.1139-228G>T	noncoding	Benign
15	40417909	A	T	A40417909T	IVD	NM_002225.5(IVD):c.1139-221A>T	noncoding	Benign
15	40417952	C	A	C40417952A	IVD	NM_002225.5(IVD):c.1139-178C>A	noncoding	Benign
15	40459356	C	A	C40459356A	BAHD1	NM_014952.5(BAHD1):c.892C>A:p.Gln298Lys	coding	Benign
15	40470663	C	T	C40470663T	CHST14	Single_allele	noncoding	Benign
15	40471423	C	T	C40471423T	CHST14	NM_130468.4(CHST14):c.210C>T:p.Pro70=	coding	Benign
15	40471924	T	A	T40471924A	CHST14	NM_130468.4(CHST14):c.711T>A:p.Tyr237Ter	coding	Pathogenic
15	40472011	C	A	C40472011A	CHST14	NM_130468.4(CHST14):c.798C>A:p.Tyr266Ter	coding	Pathogenic
15	40472091	A	G	A40472091G	CHST14	NM_130468.4(CHST14):c.878A>G:p.Tyr293Cys	coding	Pathogenic/Likely_pathogenic
15	40472206	C	A	C40472206A	CHST14	NM_130468.4(CHST14):c.993C>A:p.Ala331=	coding	Benign/Likely_benign
15	40605388	G	A	G40605388A	KNL1	NM_144508.5(KNL1):c.75+239G>A	noncoding	Benign
15	40606590	G	A	G40606590A	KNL1	NM_144508.5(KNL1):c.135+138G>A	noncoding	Benign
15	40611544	A	T	A40611544T	KNL1	NM_144508.5(KNL1):c.284+33A>T	noncoding	Benign
15	40611616	C	A	C40611616A	KNL1	NM_144508.5(KNL1):c.284+105C>A	noncoding	Benign
15	40622074	C	T	C40622074T	KNL1	NM_144508.5(KNL1):c.1810C>T:p.Gln604Ter	coding	Pathogenic
15	40624603	A	G	A40624603G	KNL1	NM_144508.5(KNL1):c.4339A>G:p.Thr1447Ala	coding	Benign/Likely_benign
15	40627946	C	T	C40627946T	KNL1	NM_144508.5(KNL1):c.5377-124C>T	noncoding	Benign
15	40640731	C	T	C40640731T	KNL1	NM_144508.5(KNL1):c.5683-181C>T	noncoding	Benign
15	40645449	A	G	A40645449G	KNL1	NM_144508.5(KNL1):c.5890-207A>G	noncoding	Benign
15	40645529	C	T	C40645529T	KNL1	NM_144508.5(KNL1):c.5890-127C>T	noncoding	Benign
15	40646856	C	A	C40646856A	KNL1	NM_144508.5(KNL1):c.6007-131C>A	noncoding	Benign
15	40651124	A	T	A40651124T	KNL1	NM_144508.5(KNL1):c.6213-347A>T	noncoding	Benign
15	40651295	T	A	T40651295A	KNL1	NM_144508.5(KNL1):c.6213-176T>A	noncoding	Benign
15	40657328	C	T	C40657328T	KNL1	NM_144508.5(KNL1):c.6595-27C>T	noncoding	Benign
15	40695220	G	C	G40695220C	RAD51	NM_002875.5(RAD51):c.-208G>C	noncoding	Benign
15	40695221	C	T	C40695221T	RAD51	NM_002875.5(RAD51):c.-207C>T	noncoding	Benign
15	40695330	G	C	G40695330C	RAD51	NM_002875.5(RAD51):c.-98G>C	noncoding	Benign
15	40695367	G	T	G40695367T	RAD51	NM_002875.5(RAD51):c.-61G>T	noncoding	Benign
15	40695527	C	T	C40695527T	RAD51	NM_002875.5(RAD51):c.-3+102C>T	noncoding	Benign
15	40698955	A	G	A40698955G	RAD51	NM_002875.5(RAD51):c.87+110A>G	noncoding	Benign
15	40701140	C	T	C40701140T	RAD51	NM_002875.5(RAD51):c.164C>T:p.Ala55Val	coding	Benign/Likely_benign
15	40706107	T	A	T40706107A	RAD51	NM_002875.5(RAD51):c.226-70T>A	noncoding	Benign
15	40706144	T	G	T40706144G	RAD51	NM_002875.5(RAD51):c.226-33T>G	noncoding	Benign
15	40708989	T	G	T40708989G	RAD51	NM_002875.5(RAD51):c.344-36T>G	noncoding	Benign
15	40709348	C	T	C40709348T	RAD51	NM_002875.5(RAD51):c.435+232C>T	noncoding	Benign
15	40718683	C	T	C40718683T	RAD51	NM_002875.5(RAD51):c.436-122C>T	noncoding	Benign
15	40728853	T	A	T40728853A	RAD51	NM_002875.5(RAD51):c.644+29T>A	noncoding	Benign
15	40729082	C	G	C40729082G	RAD51	NM_002875.5(RAD51):c.644+258C>G	noncoding	Benign
15	40730060	C	T	C40730060T	RAD51	NM_002875.5(RAD51):c.896+86C>T	noncoding	Benign
15	40774427	C	G	C40774427G	DNAJC17	NM_018163.3(DNAJC17):c.610G>C:p.Val204Leu	coding	Benign
15	40775055	G	A	G40775055A	DNAJC17	NM_018163.3(DNAJC17):c.576C>T:p.Asp192=	coding	Benign
15	40776211	C	T	C40776211T	DNAJC17	NM_018163.3(DNAJC17):c.463G>A:p.Asp155Asn	coding	Benign
15	40776573	T	G	T40776573G	DNAJC17	NM_018163.3(DNAJC17):c.350A>C:p.Glu117Ala	coding	Benign
15	40779317	G	T	G40779317T	DNAJC17	NM_018163.3(DNAJC17):c.208-7C>A	noncoding	Benign
15	40779909	G	A	G40779909A	DNAJC17	NM_018163.3(DNAJC17):c.148+19C>T	noncoding	Benign
15	40807815	A	G	A40807815G	ZFYVE19	NM_001077268.2(ZFYVE19):c.226A>G:p.Met76Val	coding	Pathogenic
15	40809153	C	G	C40809153G	ZFYVE19	NM_001077268.2(ZFYVE19):c.314C>G:p.Ser105Ter	coding	Pathogenic
15	40809218	C	T	C40809218T	ZFYVE19	NM_001077268.2(ZFYVE19):c.379C>T:p.Gln127Ter	coding	Pathogenic
15	40809913	C	T	C40809913T	ZFYVE19	NM_001077268.2(ZFYVE19):c.514C>T:p.Arg172Ter	coding	Pathogenic
15	40809946	C	T	C40809946T	ZFYVE19	NM_001077268.2(ZFYVE19):c.547C>T:p.Arg183Ter	coding	Pathogenic
15	40810166	C	T	C40810166T	ZFYVE19	NM_001077268.2(ZFYVE19):c.667C>T:p.Arg223Ter	coding	Pathogenic
15	40929707	A	T	A40929707T	DLL4	NM_019074.4(DLL4):c.39A>T:p.Leu13=	coding	Benign
15	40929827	C	T	C40929827T	DLL4	NM_019074.4(DLL4):c.67-20C>T	noncoding	Benign/Likely_benign
15	40930289	G	C	G40930289C	DLL4	NM_019074.4(DLL4):c.336+173G>C	noncoding	Benign
15	40930605	C	T	C40930605T	DLL4	NM_019074.4(DLL4):c.337-20C>T	noncoding	Benign
15	40931485	G	C	G40931485C	DLL4	NM_019074.4(DLL4):c.395-18G>C	noncoding	Benign
15	40931926	G	A	G40931926A	DLL4	NM_019074.4(DLL4):c.658+160G>A	noncoding	Benign
15	40932082	G	T	G40932082T	DLL4	NM_019074.4(DLL4):c.659-89G>T	noncoding	Benign
15	40932094	C	T	C40932094T	DLL4	NM_019074.4(DLL4):c.659-77C>T	noncoding	Benign
15	40934852	C	T	C40934852T	DLL4	NM_019074.4(DLL4):c.1021-46C>T	noncoding	Benign
15	40935116	C	T	C40935116T	DLL4	NM_019074.4(DLL4):c.1239C>T:p.Asn413=	coding	Benign/Likely_benign
15	40936418	G	A	G40936418A	DLL4	NM_019074.4(DLL4):c.1431G>A:p.Val477=	coding	Benign
15	41048293	T	A	T41048293A	INO80	NM_017553.3(INO80):c.2577-17A>T	noncoding	Benign
15	41092132	G	A	G41092132A	INO80	NM_017553.3(INO80):c.432C>T:p.Asp144=	coding	Benign
15	41387503	G	C	G41387503C	NDUFAF1	NM_016013.4(NDUFAF1):c.925C>G:p.His309Asp	coding	Benign
15	41395345	T	A	T41395345A	NDUFAF1	NM_016013.4(NDUFAF1):c.574-301A>T	noncoding	Benign
15	41402001	G	A	G41402001A	NDUFAF1	NM_016013.4(NDUFAF1):c.-82+143C>T	noncoding	Benign
15	41402441	G	A	G41402441A	NDUFAF1	NM_016013.4(NDUFAF1):c.-379C>T	noncoding	Benign/Likely_benign
15	41402448	T	A	T41402448A	NDUFAF1	NM_016013.4(NDUFAF1):c.-386A>T	noncoding	Benign/Likely_benign
15	41402545	C	T	C41402545T	NDUFAF1	Single_allele	noncoding	Benign
15	41812718	G	A	G41812718A	MAPKBP1	NM_014994.3(MAPKBP1):c.636+65G>A	noncoding	Benign
15	41813720	C	G	C41813720G	MAPKBP1	NM_014994.3(MAPKBP1):c.919C>G:p.Leu307Val	coding	Benign
15	41814871	G	T	G41814871T	MAPKBP1	NM_014994.3(MAPKBP1):c.1170+132G>T	noncoding	Benign
15	41816878	C	T	C41816878T	MAPKBP1	NM_014994.3(MAPKBP1):c.1586-32C>T	noncoding	Benign
15	41817025	T	C	T41817025C	MAPKBP1	NM_014994.3(MAPKBP1):c.1701T>C:p.Val567=	coding	Benign
15	41817777	T	G	T41817777G	MAPKBP1	NM_014994.3(MAPKBP1):c.1904+42T>G	noncoding	Benign
15	41819100	C	G	C41819100G	MAPKBP1	NM_014994.3(MAPKBP1):c.2291+143C>G	noncoding	Benign
15	41819578	T	G	T41819578G	MAPKBP1	NM_014994.3(MAPKBP1):c.2426-17T>G	noncoding	Benign
15	41819735	G	A	G41819735A	MAPKBP1	NM_014994.3(MAPKBP1):c.2481+85G>A	noncoding	Benign
15	41820597	T	C	T41820597C	MAPKBP1	NM_014994.3(MAPKBP1):c.2482-235T>C	noncoding	Benign
15	41820847	G	A	G41820847A	MAPKBP1	NM_014994.3(MAPKBP1):c.2497G>A:p.Gly833Arg	coding	Benign
15	41822210	C	T	C41822210T	MAPKBP1	NM_014994.3(MAPKBP1):c.3032-15C>T	noncoding	Benign
15	41822216	C	T	C41822216T	MAPKBP1	NM_014994.3(MAPKBP1):c.3032-9C>T	noncoding	Benign
15	41822222	C	A	C41822222A	MAPKBP1	NM_014994.3(MAPKBP1):c.3032-3C>A	noncoding	Benign
15	41822821	C	T	C41822821T	MAPKBP1	NM_014994.3(MAPKBP1):c.3315-118C>T	noncoding	Benign
15	41823228	A	G	A41823228G	MAPKBP1	NM_014994.3(MAPKBP1):c.3598+6A>G	noncoding	Benign
15	41823549	G	C	G41823549C	MAPKBP1	NM_014994.3(MAPKBP1):c.3701G>C:p.Arg1234Pro	coding	Benign
15	41824473	G	A	G41824473A	MAPKBP1	NM_014994.3(MAPKBP1):c.4214-11G>A	noncoding	Benign
15	41824705	T	C	T41824705C	MAPKBP1	NM_014994.3(MAPKBP1):c.4299+136T>C	noncoding	Benign
15	41825585	G	C	G41825585C	MAPKBP1	NM_014994.3(MAPKBP1):c.*149G>C	noncoding	Benign
15	41851335	T	G	T41851335G	SPTBN5	NM_016642.4(SPTBN5):c.10691A>C:p.Asn3564Thr	coding	Benign
15	41852851	C	T	C41852851T	SPTBN5	NM_016642.4(SPTBN5):c.10320G>A:p.Glu3440=	coding	Benign
15	41853738	G	C	G41853738C	SPTBN5	NM_016642.4(SPTBN5):c.9824C>G:p.Ala3275Gly	coding	Benign
15	41855441	A	C	A41855441C	SPTBN5	NM_016642.4(SPTBN5):c.9219-13T>G	noncoding	Benign
15	41856538	A	G	A41856538G	SPTBN5	NM_016642.4(SPTBN5):c.8869T>C:p.Tyr2957His	coding	Benign
15	41857274	T	C	T41857274C	SPTBN5	NM_016642.4(SPTBN5):c.8585A>G:p.Gln2862Arg	coding	Benign
15	41857308	G	C	G41857308C	SPTBN5	NM_016642.4(SPTBN5):c.8551C>G:p.Gln2851Glu	coding	Benign
15	41857398	C	G	C41857398G	SPTBN5	NM_016642.4(SPTBN5):c.8461G>C:p.Gly2821Arg	coding	Benign
15	41858690	G	A	G41858690A	SPTBN5	NM_016642.4(SPTBN5):c.8138C>T:p.Thr2713Ile	coding	Benign
15	41866175	G	A	G41866175A	SPTBN5	NM_016642.4(SPTBN5):c.6685C>T:p.Arg2229Trp	coding	Benign
15	41870269	G	A	G41870269A	SPTBN5	NM_016642.4(SPTBN5):c.5647C>T:p.Arg1883Ter	coding	Benign
15	41874277	G	A	G41874277A	SPTBN5	NM_016642.4(SPTBN5):c.4689+15C>T	noncoding	Benign
15	41874302	C	T	C41874302T	SPTBN5	NM_016642.4(SPTBN5):c.4679G>A:p.Arg1560His	coding	Benign
15	41875070	A	G	A41875070G	SPTBN5	NM_016642.4(SPTBN5):c.4288-14T>C	noncoding	Benign
15	41876202	C	T	C41876202T	SPTBN5	NM_016642.4(SPTBN5):c.4034G>A:p.Arg1345His	coding	Benign
15	41878380	G	A	G41878380A	SPTBN5	NM_016642.4(SPTBN5):c.3432C>T:p.His1144=	coding	Benign
15	41878643	T	C	T41878643C	SPTBN5	NM_016642.4(SPTBN5):c.3183-14A>G	noncoding	Benign
15	41879264	C	T	C41879264T	SPTBN5	NM_016642.4(SPTBN5):c.3178G>A:p.Val1060Ile	coding	Benign
15	41879339	A	G	A41879339G	SPTBN5	NM_016642.4(SPTBN5):c.3103T>C:p.Cys1035Arg	coding	Benign
15	41879456	G	A	G41879456A	SPTBN5	NM_016642.4(SPTBN5):c.2986C>T:p.Leu996=	coding	Benign
15	41879457	C	A	C41879457A	SPTBN5	NM_016642.4(SPTBN5):c.2985G>T:p.Gln995His	coding	Benign
15	41885957	T	C	T41885957C	SPTBN5	NM_016642.4(SPTBN5):c.1298A>G:p.His433Arg	coding	Benign
15	42359484	A	C	A42359484C	CAPN3	Single_allele	noncoding	Benign
15	42359806	A	G	A42359806G	CAPN3	NM_000070.3(CAPN3):c.1A>G:p.Met1Val	coding	Pathogenic
15	42360091	C	T	C42360091T	CAPN3	NM_000070.3(CAPN3):c.286C>T:p.Gln96Ter	coding	Pathogenic
15	42384463	A	C	A42384463C	CAPN3	NM_000070.3(CAPN3):c.310-20A>C	noncoding	Benign
15	42384531	G	A	G42384531A	CAPN3	NM_000070.3(CAPN3):c.358G>A:p.Asp120Asn	coding	Pathogenic
15	42386025	T	C	T42386025C	CAPN3	NM_000070.3(CAPN3):c.380-142T>C	noncoding	Benign
15	42386176	G	A	G42386176A	CAPN3	NM_000070.3(CAPN3):c.389G>A:p.Trp130Ter	coding	Pathogenic
15	42386286	G	A	G42386286A	CAPN3	NM_000070.3(CAPN3):c.498+1G>A	coding	Pathogenic
15	42386398	G	T	G42386398T	CAPN3	NM_000070.3(CAPN3):c.498+113G>T	noncoding	Benign
15	42387735	C	T	C42387735T	CAPN3	NM_000070.3(CAPN3):c.499-18C>T	noncoding	Benign
15	42388103	T	A	T42388103A	CAPN3	NM_000070.3(CAPN3):c.632+217T>A	noncoding	Benign
15	42388790	C	T	C42388790T	CAPN3	NM_000070.3(CAPN3):c.633-138C>T	noncoding	Benign
15	42388859	G	A	G42388859A	CAPN3	NM_000070.3(CAPN3):c.633-69G>A	noncoding	Benign
15	42388943	C	G	C42388943G	CAPN3	NM_000070.3(CAPN3):c.648C>G:p.Tyr216Ter	coding	Pathogenic
15	42388944	G	A	G42388944A	CAPN3	NM_000070.3(CAPN3):c.649G>A:p.Glu217Lys	coding	Pathogenic/Likely_pathogenic
15	42388959	G	A	G42388959A	CAPN3	NM_000070.3(CAPN3):c.664G>A:p.Gly222Arg	coding	Pathogenic/Likely_pathogenic
15	42389732	G	A	G42389732A	CAPN3	NM_000070.3(CAPN3):c.802-221G>A	noncoding	Benign
15	42389833	A	T	A42389833T	CAPN3	NM_000070.3(CAPN3):c.802-120A>T	noncoding	Benign
15	42389999	T	C	T42389999C	CAPN3	NM_000070.3(CAPN3):c.848T>C:p.Met283Thr	coding	Pathogenic/Likely_pathogenic
15	42390049	C	T	C42390049T	CAPN3	NM_000070.3(CAPN3):c.898C>T:p.Gln300Ter	coding	Pathogenic
15	42390152	C	T	C42390152T	CAPN3	NM_000070.3(CAPN3):c.945+56C>T	noncoding	Benign
15	42392649	C	T	C42392649T	CAPN3	NM_000070.3(CAPN3):c.956C>T:p.Pro319Leu	coding	Pathogenic/Likely_pathogenic
15	42392659	T	A	T42392659A	CAPN3	NM_000070.3(CAPN3):c.966T>A:p.Tyr322Ter	coding	Pathogenic
15	42394152	G	A	G42394152A	CAPN3	NM_000070.3(CAPN3):c.1030-104G>A	noncoding	Benign
15	42394310	C	T	C42394310T	CAPN3	NM_000070.3(CAPN3):c.1084C>T:p.Gln362Ter	coding	Pathogenic
15	42397040	A	G	A42397040G	CAPN3	NM_000070.3(CAPN3):c.1193+163A>G	noncoding	Benign
15	42399601	G	A	G42399601A	CAPN3	NM_000070.3(CAPN3):c.1303G>A:p.Glu435Lys	coding	Pathogenic/Likely_pathogenic
15	42399713	C	T	C42399713T	CAPN3	NM_000070.3(CAPN3):c.1354+61C>T	noncoding	Benign
15	42399748	G	A	G42399748A	CAPN3	NM_000070.3(CAPN3):c.1354+96G>A	noncoding	Benign
15	42401476	C	G	C42401476G	CAPN3	NM_000070.3(CAPN3):c.1355-165C>G	noncoding	Benign
15	42401485	C	T	C42401485T	CAPN3	NM_000070.3(CAPN3):c.1355-156C>T	noncoding	Benign
15	42401649	T	C	T42401649C	CAPN3	NM_000070.3(CAPN3):c.1363T>C:p.Trp455Arg	coding	Pathogenic
15	42401734	C	A	C42401734A	CAPN3	NM_000070.3(CAPN3):c.1448C>A:p.Ala483Asp	coding	Pathogenic
15	42401742	C	T	C42401742T	CAPN3	NM_000070.3(CAPN3):c.1456C>T:p.Gln486Ter	coding	Pathogenic
15	42402268	T	C	T42402268C	CAPN3	NM_000070.3(CAPN3):c.1536+133T>C	noncoding	Benign
15	42402398	C	A	C42402398A	CAPN3	NM_000070.3(CAPN3):c.1536+263C>A	coding	Benign
15	42402879	G	A	G42402879A	CAPN3	NM_000070.3(CAPN3):c.1622G>A:p.Arg541Gln	coding	Pathogenic/Likely_pathogenic
15	42403520	G	C	G42403520C	CAPN3	NM_000070.3(CAPN3):c.1746-221G>C	noncoding	Benign
15	42403677	C	T	C42403677T	CAPN3	NM_000070.3(CAPN3):c.1746-64C>T	noncoding	Benign/Likely_benign
15	42405145	G	A	G42405145A	CAPN3	NM_000070.3(CAPN3):c.1783-781G>A	noncoding	Benign
15	42405863	C	G	C42405863G	CAPN3	NM_000070.3(CAPN3):c.1783-63C>G	noncoding	Benign
15	42405867	C	T	C42405867T	CAPN3	NM_000070.3(CAPN3):c.1783-59C>T	noncoding	Benign
15	42405945	T	C	T42405945C	CAPN3	NM_000070.3(CAPN3):c.1800+2T>C	noncoding	Pathogenic
15	42406086	G	A	G42406086A	CAPN3	NM_000070.3(CAPN3):c.1800+143G>A	noncoding	Benign
15	42406093	C	T	C42406093T	CAPN3	NM_000070.3(CAPN3):c.1800+150C>T	noncoding	Benign
15	42407923	G	C	G42407923C	CAPN3	NM_000070.3(CAPN3):c.1801-288G>C	noncoding	Benign
15	42409205	C	T	C42409205T	CAPN3	NM_000070.3(CAPN3):c.1915-98C>T	noncoding	Benign
15	42409422	C	G	C42409422G	CAPN3	NM_000070.3(CAPN3):c.1992+42C>G	noncoding	Benign
15	42409793	G	T	G42409793T	CAPN3	NM_000070.3(CAPN3):c.1999G>T:p.Glu667Ter	coding	Pathogenic
15	42410242	T	C	T42410242C	CAPN3	NM_000070.3(CAPN3):c.2116-186T>C	noncoding	Benign
15	42410323	G	C	G42410323C	CAPN3	NM_000070.3(CAPN3):c.2116-105G>C	noncoding	Benign
15	42410475	G	A	G42410475A	CAPN3	NM_000070.3(CAPN3):c.2163G>A:p.Trp721Ter	coding	Pathogenic/Likely_pathogenic
15	42410615	C	T	C42410615T	CAPN3	NM_000070.3(CAPN3):c.2212C>T:p.Gln738Ter	coding	Pathogenic/Likely_pathogenic
15	42410620	C	G	C42410620G	CAPN3	NM_000070.3(CAPN3):c.2217C>G:p.Ser739=	coding	Pathogenic
15	42411001	G	T	G42411001T	CAPN3	NM_000070.3(CAPN3):c.2380+1G>T	coding	Pathogenic/Likely_pathogenic
15	42411155	G	C	G42411155C	CAPN3	NM_000070.3(CAPN3):c.2381-132G>C	noncoding	Benign
15	42411173	C	G	C42411173G	CAPN3	NM_000070.3(CAPN3):c.2381-114C>G	noncoding	Benign
15	42411414	C	T	C42411414T	CAPN3	NM_000070.3(CAPN3):c.2439+69C>T	noncoding	Benign
15	42411746	G	A	G42411746A	CAPN3	NM_000070.3(CAPN3):c.2440-1G>A	noncoding	Pathogenic/Likely_pathogenic
15	42665334	T	G	T42665334G	STARD9	NM_020759.3(STARD9):c.1254+4T>G	noncoding	Benign
15	42687878	G	C	G42687878C	STARD9	NM_020759.3(STARD9):c.6300G>C:p.Arg2100Ser	coding	Benign
15	42692660	G	T	G42692660T	STARD9	NM_020759.3(STARD9):c.11082G>T:p.Leu3694=	coding	Benign
15	42724883	G	A	G42724883A	CDAN1	NM_138477.4(CDAN1):c.3558+261C>T	noncoding	Benign
15	42726122	G	T	G42726122T	CDAN1	NM_138477.4(CDAN1):c.3243C>A:p.Cys1081Ter	coding	Pathogenic
15	42726288	G	A	G42726288A	CDAN1	NM_138477.4(CDAN1):c.3204+22C>T	noncoding	Benign
15	42726320	C	T	C42726320T	CDAN1	NM_138477.4(CDAN1):c.3194G>A:p.Arg1065Gln	coding	Benign/Likely_benign
15	42726493	T	G	T42726493G	CDAN1	NM_138477.4(CDAN1):c.3097-76A>C	noncoding	Benign
15	42728126	C	G	C42728126G	CDAN1	NM_138477.4(CDAN1):c.2868+78G>C	noncoding	Benign
15	42728396	C	T	C42728396T	CDAN1	NM_138477.4(CDAN1):c.2805-129G>A	noncoding	Benign
15	42729430	C	T	C42729430T	CDAN1	NM_138477.4(CDAN1):c.2408-68G>A	noncoding	Benign
15	42730054	G	A	G42730054A	CDAN1	NM_138477.4(CDAN1):c.2262+74C>T	noncoding	Benign
15	42730331	T	C	T42730331C	CDAN1	NM_138477.4(CDAN1):c.2175-116A>G	noncoding	Benign
15	42730492	C	A	C42730492A	CDAN1	NM_138477.4(CDAN1):c.2174+106G>T	noncoding	Benign
15	42730578	C	T	C42730578T	CDAN1	NM_138477.4(CDAN1):c.2174+20G>A	noncoding	Benign/Likely_benign
15	42730685	A	T	A42730685T	CDAN1	NM_138477.4(CDAN1):c.2087T>A:p.Leu696Gln	coding	Pathogenic
15	42731106	A	C	A42731106C	CDAN1	NM_138477.4(CDAN1):c.1861-35T>G	noncoding	Benign
15	42731129	G	A	G42731129A	CDAN1	NM_138477.4(CDAN1):c.1861-58C>T	noncoding	Benign
15	42731865	C	T	C42731865T	CDAN1	NM_138477.4(CDAN1):c.1534-40G>A	noncoding	Benign
15	42732976	T	A	T42732976A	CDAN1	NM_138477.4(CDAN1):c.1457+121A>T	noncoding	Benign
15	42733326	T	G	T42733326G	CDAN1	NM_138477.4(CDAN1):c.1368-140A>C	noncoding	Benign
15	42734427	T	A	T42734427A	CDAN1	NM_138477.4(CDAN1):c.1137-81A>T	noncoding	Benign
15	42736868	G	A	G42736868A	CDAN1	NM_138477.4(CDAN1):c.91-88C>T	noncoding	Benign
15	42746293	T	C	T42746293C	TTBK2	NM_173500.4(TTBK2):c.3273-36A>G	noncoding	Benign
15	42751829	G	C	G42751829C	TTBK2	NM_173500.4(TTBK2):c.3272+145C>G	noncoding	Benign
15	42751857	A	G	A42751857G	TTBK2	NM_173500.4(TTBK2):c.3272+117T>C	noncoding	Benign
15	42752648	C	T	C42752648T	TTBK2	NM_173500.4(TTBK2):c.2598G>A:p.Gln866=	coding	Benign
15	42752762	T	G	T42752762G	TTBK2	NM_173500.4(TTBK2):c.2484A>C:p.Thr828=	coding	Benign
15	42775197	G	C	G42775197C	TTBK2	NM_173500.4(TTBK2):c.1936C>G:p.Gln646Glu	coding	Benign
15	42775876	T	C	T42775876C	TTBK2	NM_173500.4(TTBK2):c.1410-153A>G	noncoding	Benign
15	42776816	C	T	C42776816T	TTBK2	NM_173500.4(TTBK2):c.1409+215G>A	noncoding	Benign
15	42783333	C	T	C42783333T	TTBK2	NM_173500.4(TTBK2):c.1197+86G>A	noncoding	Benign
15	42794539	G	T	G42794539T	TTBK2	NM_173500.4(TTBK2):c.980+105C>A	noncoding	Benign
15	42810395	C	T	C42810395T	TTBK2	NM_173500.4(TTBK2):c.822+219G>A	noncoding	Benign
15	42811567	C	T	C42811567T	TTBK2	NM_173500.4(TTBK2):c.696+121G>A	noncoding	Benign
15	42816945	T	A	T42816945A	TTBK2	NM_173500.4(TTBK2):c.603+87A>T	noncoding	Benign
15	42817040	G	A	G42817040A	TTBK2	NM_173500.4(TTBK2):c.595C>T:p.Arg199Trp	coding	Benign/Likely_benign
15	42817187	C	T	C42817187T	TTBK2	NM_173500.4(TTBK2):c.538-90G>A	noncoding	Benign
15	42817281	T	A	T42817281A	TTBK2	NM_173500.4(TTBK2):c.538-184A>T	noncoding	Benign
15	42828024	G	A	G42828024A	TTBK2	NM_173500.4(TTBK2):c.441C>T:p.Phe147=	coding	Benign
15	42878426	G	A	G42878426A	TTBK2	NM_173500.4(TTBK2):c.69+123C>T	noncoding	Benign
15	42878822	T	C	T42878822C	TTBK2	NM_173500.4(TTBK2):c.-67-138A>G	noncoding	Benign
15	42878924	A	T	A42878924T	TTBK2	NM_173500.4(TTBK2):c.-67-240T>A	noncoding	Benign
15	42945005	T	C	T42945005C	UBR1	NM_174916.3(UBR1):c.*324A>G	noncoding	Benign
15	42945216	C	T	C42945216T	UBR1	NM_174916.3(UBR1):c.*113G>A	noncoding	Benign
15	42952501	A	G	A42952501G	UBR1	NM_174916.3(UBR1):c.4836-53T>C	noncoding	Benign
15	42960566	A	G	A42960566G	UBR1	NM_174916.3(UBR1):c.4757+79T>C	noncoding	Benign
15	42966220	A	T	A42966220T	UBR1	NM_174916.3(UBR1):c.4524T>A:p.Tyr1508Ter	coding	Pathogenic
15	42983995	T	C	T42983995C	UBR1	NM_174916.3(UBR1):c.4054-2A>G	noncoding	Pathogenic
15	42988659	C	T	C42988659T	UBR1	NM_174916.3(UBR1):c.3997+160G>A	noncoding	Benign
15	42989193	C	T	C42989193T	UBR1	NM_174916.3(UBR1):c.3849-226G>A	noncoding	Benign
15	42998252	C	A	C42998252A	UBR1	NM_174916.3(UBR1):c.3673G>T:p.Ala1225Ser	coding	Benign/Likely_benign
15	43002890	G	A	G43002890A	UBR1	NM_174916.3(UBR1):c.3510-186C>T	noncoding	Benign
15	43007489	T	C	T43007489C	UBR1	NM_174916.3(UBR1):c.3210-205A>G	noncoding	Benign
15	43015957	G	A	G43015957A	UBR1	NM_174916.3(UBR1):c.3028-88C>T	noncoding	Benign
15	43021142	T	G	T43021142G	UBR1	NM_174916.3(UBR1):c.2940+133A>C	noncoding	Benign
15	43025137	A	G	A43025137G	UBR1	NM_174916.3(UBR1):c.2585-154T>C	noncoding	Benign
15	43029915	C	A	C43029915A	UBR1	NM_174916.3(UBR1):c.2379+29G>T	noncoding	Benign
15	43029943	C	G	C43029943G	UBR1	NM_174916.3(UBR1):c.2379+1G>C	noncoding	Pathogenic
15	43032566	A	G	A43032566G	UBR1	NM_174916.3(UBR1):c.2254+2T>C	noncoding	Pathogenic
15	43032744	C	T	C43032744T	UBR1	NM_174916.3(UBR1):c.2191-113G>A	noncoding	Benign
15	43036082	T	A	T43036082A	UBR1	NM_174916.3(UBR1):c.2190+96A>T	noncoding	Benign
15	43036465	C	T	C43036465T	UBR1	NM_174916.3(UBR1):c.2088+63G>A	noncoding	Benign
15	43037977	A	T	A43037977T	UBR1	NM_174916.3(UBR1):c.1912-94T>A	noncoding	Benign
15	43046953	C	A	C43046953A	UBR1	NM_174916.3(UBR1):c.1668+208G>T	noncoding	Benign
15	43047301	A	T	A43047301T	UBR1	NM_174916.3(UBR1):c.1540-12T>A	noncoding	Benign
15	43054941	T	C	T43054941C	UBR1	NM_174916.3(UBR1):c.1282-42A>G	noncoding	Benign
15	43056481	C	T	C43056481T	UBR1	NM_174916.3(UBR1):c.1183-39G>A	noncoding	Benign
15	43059686	C	T	C43059686T	UBR1	NM_174916.3(UBR1):c.985+16G>A	noncoding	Benign
15	43070776	G	A	G43070776A	UBR1	NM_174916.3(UBR1):c.659+19C>T	noncoding	Benign
15	43070938	C	T	C43070938T	UBR1	NM_174916.3(UBR1):c.529-13G>A	noncoding	Pathogenic
15	43070967	A	G	A43070967G	UBR1	NM_174916.3(UBR1):c.529-42T>C	noncoding	Benign
15	43086058	C	T	C43086058T	UBR1	NM_174916.3(UBR1):c.264G>A:p.Glu88=	coding	Benign/Likely_benign
15	43105910	A	G	A43105910G	UBR1	NM_174916.3(UBR1):c.81+32T>C	noncoding	Benign
15	43202924	G	T	G43202924T	EPB42	NM_001114134.2(EPB42):c.1779+191C>A	noncoding	Benign
15	43203014	T	C	T43203014C	EPB42	NM_001114134.2(EPB42):c.1779+101A>G	noncoding	Benign
15	43203539	T	A	T43203539A	EPB42	NM_001114134.2(EPB42):c.1619-264A>T	noncoding	Benign
15	43206678	T	C	T43206678C	EPB42	NM_001114134.2(EPB42):c.1319-49A>G	noncoding	Benign
15	43208869	T	C	T43208869C	EPB42	NM_001114134.2(EPB42):c.833-94A>G	noncoding	Benign
15	43210104	C	T	C43210104T	EPB42	NM_001114134.2(EPB42):c.654+231G>A	noncoding	Benign
15	43210670	A	G	A43210670G	EPB42	NM_001114134.2(EPB42):c.550-231T>C	noncoding	Benign
15	43216532	G	C	G43216532C	EPB42	NM_001114134.2(EPB42):c.11-79C>G	noncoding	Benign
15	43220586	C	G	C43220586G	EPB42	NM_001114134.2(EPB42):c.10+230G>C	noncoding	Benign
15	43221127	A	T	A43221127T	EPB42	NC_000015.9:g.43513325A>T	noncoding	Benign
15	43235038	A	G	A43235038G	TGM5	NM_201631.4(TGM5):c.1715-109T>C	noncoding	Benign
15	43239252	C	T	C43239252T	TGM5	NM_201631.4(TGM5):c.1016G>A:p.Trp339Ter	coding	Pathogenic
15	43240801	G	T	G43240801T	TGM5	NM_201631.4(TGM5):c.1001+51C>A	noncoding	Benign
15	43252735	T	C	T43252735C	TGM5	NM_201631.4(TGM5):c.862+24A>G	noncoding	Benign
15	43253116	C	T	C43253116T	TGM5	NM_201631.4(TGM5):c.685-180G>A	noncoding	Benign
15	43256920	A	G	A43256920G	TGM5	NM_201631.4(TGM5):c.437-234T>C	noncoding	Benign
15	43259721	G	A	G43259721A	TGM5	NM_201631.4(TGM5):c.436+331C>T	noncoding	Benign
15	43260776	T	G	T43260776G	TGM5	NM_201631.4(TGM5):c.11-197A>C	noncoding	Benign
15	43266625	A	C	A43266625C	TGM5	NM_201631.4(TGM5):c.10+215T>G	noncoding	Benign
15	43267033	T	C	T43267033C	TGM5	Single_allele	noncoding	Benign
15	43361124	G	A	G43361124A	ZSCAN29	NM_001372080.1(ZSCAN29):c.2508C>T:p.His836=	coding	Benign
15	43377666	C	T	C43377666T	TUBGCP4	NM_014444.5(TUBGCP4):c.385-181C>T	noncoding	Benign
15	43378028	C	A	C43378028A	TUBGCP4	NM_014444.5(TUBGCP4):c.441+125C>A	noncoding	Benign
15	43378082	C	T	C43378082T	TUBGCP4	NM_014444.5(TUBGCP4):c.441+179C>T	noncoding	Benign
15	43383294	T	A	T43383294A	TUBGCP4	NM_014444.5(TUBGCP4):c.522-9T>A	noncoding	Benign
15	43385781	C	A	C43385781A	TUBGCP4	NM_014444.5(TUBGCP4):c.724-10C>A	noncoding	Benign/Likely_benign
15	43385958	T	C	T43385958C	TUBGCP4	NM_014444.5(TUBGCP4):c.889+2T>C	noncoding	Pathogenic/Likely_pathogenic
15	43386295	C	T	C43386295T	TUBGCP4	NM_014444.5(TUBGCP4):c.979C>T:p.Gln327Ter	coding	Pathogenic
15	43386344	C	A	C43386344A	TUBGCP4	NM_014444.5(TUBGCP4):c.1014+14C>A	noncoding	Benign
15	43386345	G	A	G43386345A	TUBGCP4	NM_014444.5(TUBGCP4):c.1014+15G>A	noncoding	Benign
15	43395186	G	A	G43395186A	TUBGCP4	NM_014444.5(TUBGCP4):c.1065+29G>A	noncoding	Benign
15	43396959	G	T	G43396959T	TUBGCP4	NM_014444.5(TUBGCP4):c.1172-255G>T	noncoding	Benign
15	43397197	C	T	C43397197T	TUBGCP4	NM_014444.5(TUBGCP4):c.1172-17C>T	noncoding	Benign
15	43397234	C	T	C43397234T	TUBGCP4	NM_014444.5(TUBGCP4):c.1192C>T:p.Gln398Ter	coding	Pathogenic
15	43398017	T	C	T43398017C	TUBGCP4	NM_014444.5(TUBGCP4):c.1280-24T>C	noncoding	Benign
15	43398102	T	C	T43398102C	TUBGCP4	NM_014444.5(TUBGCP4):c.1341T>C:p.Ser447=	coding	Benign
15	43398367	A	G	A43398367G	TUBGCP4	NM_014444.5(TUBGCP4):c.1418+188A>G	noncoding	Benign
15	43401734	C	T	C43401734T	TUBGCP4	NM_014444.5(TUBGCP4):c.1615C>T:p.Gln539Ter	coding	Pathogenic
15	43401755	C	T	C43401755T	TUBGCP4	NM_014444.5(TUBGCP4):c.1636C>T:p.Gln546Ter	coding	Pathogenic
15	43401788	C	T	C43401788T	TUBGCP4	NM_014444.5(TUBGCP4):c.1669C>T:p.Arg557Ter	coding	Pathogenic
15	43401910	G	C	G43401910C	TUBGCP4	NM_014444.5(TUBGCP4):c.1731+60G>C	noncoding	Benign
15	43404503	C	T	C43404503T	TUBGCP4	NM_014444.5(TUBGCP4):c.1939C>T:p.Arg647Ter	coding	Pathogenic
15	43404895	C	T	C43404895T	TUBGCP4	NM_014444.5(TUBGCP4):c.1989-307C>T	noncoding	Benign
15	43601620	G	A	G43601620A	STRC	NM_153700.2(STRC):c.4546-69C>T	noncoding	Benign
15	43603444	G	A	G43603444A	STRC	NM_153700.2(STRC):c.4376-33C>T	noncoding	Benign
15	43603445	C	T	C43603445T	STRC	NM_153700.2(STRC):c.4376-34G>A	noncoding	Benign
15	43604020	G	A	G43604020A	STRC	NM_153700.2(STRC):c.4351C>T:p.Arg1451Ter	coding	Pathogenic/Likely_pathogenic
15	43604248	C	A	C43604248A	STRC	NM_153700.2(STRC):c.4219-96G>T	noncoding	Benign
15	43604600	G	C	G43604600C	STRC	NM_153700.2(STRC):c.4127+50C>G	noncoding	Benign
15	43604819	C	A	C43604819A	STRC	NM_153700.2(STRC):c.3958G>T:p.Glu1320Ter	coding	Pathogenic
15	43607670	T	C	T43607670C	STRC	NM_153700.2(STRC):c.3794+193A>G	noncoding	Benign
15	43607862	C	T	C43607862T	STRC	NM_153700.2(STRC):c.3794+1G>A	noncoding	Pathogenic
15	43608160	G	A	G43608160A	STRC	NM_153700.2(STRC):c.3601C>T:p.Gln1201Ter	coding	Pathogenic
15	43613837	C	G	C43613837G	STRC	NM_153700.2(STRC):c.2480+50G>C	noncoding	Benign
15	43616830	G	A	G43616830A	STRC	NM_153700.2(STRC):c.876-140C>T	noncoding	Benign
15	43617194	C	T	C43617194T	STRC	NM_153700.2(STRC):c.875+264G>A	noncoding	Benign
15	43617838	G	A	G43617838A	STRC	NM_153700.2(STRC):c.583C>T:p.Gln195Ter	coding	Pathogenic
15	43631976	C	G	C43631976G	CATSPER2	NM_172095.4(CATSPER2):c.1561+223G>C	noncoding	Benign
15	43632392	C	T	C43632392T	CATSPER2	NM_172095.4(CATSPER2):c.1397-29G>A	noncoding	Benign
15	43632410	T	C	T43632410C	CATSPER2	NM_172095.4(CATSPER2):c.1397-47A>G	noncoding	Benign
15	43632484	G	A	G43632484A	CATSPER2	NM_172095.4(CATSPER2):c.1397-121C>T	noncoding	Benign
15	43632894	A	T	A43632894T	CATSPER2	NM_172095.4(CATSPER2):c.1219T>A:p.Ser407Thr	coding	Benign
15	43632949	T	G	T43632949G	CATSPER2	NM_172095.4(CATSPER2):c.1179-15A>C	noncoding	Benign
15	43635172	T	C	T43635172C	CATSPER2	NM_172095.4(CATSPER2):c.1178+188A>G	noncoding	Benign
15	43639208	G	T	G43639208T	CATSPER2	NM_172095.4(CATSPER2):c.718-180C>A	noncoding	Benign
15	43639534	G	A	G43639534A	CATSPER2	NM_172095.4(CATSPER2):c.717+109C>T	noncoding	Benign
15	43639905	G	C	G43639905C	CATSPER2	NM_172095.4(CATSPER2):c.562-107C>G	noncoding	Benign
15	43639973	A	C	A43639973C	CATSPER2	NM_172095.4(CATSPER2):c.562-175T>G	noncoding	Benign
15	43648927	G	C	G43648927C	CATSPER2	Single_allele	noncoding	Benign
15	43746265	C	A	C43746265A	PDIA3	Single_allele	noncoding	Benign
15	43746701	C	T	C43746701T	PDIA3	NM_005313.5(PDIA3):c.162C>T:p.Ala54=	coding	Benign
15	43761419	C	T	C43761419T	PDIA3	NM_005313.5(PDIA3):c.365-5C>T	noncoding	Benign
15	43766436	G	C	G43766436C	PDIA3	NM_005313.5(PDIA3):c.846-292G>C	noncoding	Benign
15	43767124	T	C	T43767124C	PDIA3	NM_005313.5(PDIA3):c.1028+214T>C	noncoding	Benign
15	43768237	T	C	T43768237C	PDIA3	NM_005313.5(PDIA3):c.1029-252T>C	noncoding	Benign
15	43768685	C	T	C43768685T	PDIA3	NM_005313.5(PDIA3):c.1137+88C>T	noncoding	Benign
15	43769604	C	T	C43769604T	PDIA3	NM_005313.5(PDIA3):c.1224C>T:p.His408=	coding	Benign
15	43770676	A	T	A43770676T	PDIA3	NM_005313.5(PDIA3):c.1404+96A>T	noncoding	Benign
15	43883778	A	G	A43883778G	FRMD5	NM_032892.5(FRMD5):c.1060T>C:p.Ser354Pro	coding	Pathogenic
15	43883787	T	C	T43883787C	FRMD5	NM_032892.5(FRMD5):c.1051A>G:p.Ser351Gly	coding	Pathogenic
15	44564548	T	A	T44564548A	SPG11	NM_025137.4(SPG11):c.7150A>T:p.Lys2384Ter	coding	Pathogenic
15	44564560	C	A	C44564560A	SPG11	NM_025137.4(SPG11):c.7138G>T:p.Glu2380Ter	coding	Pathogenic
15	44565853	C	G	C44565853G	SPG11	NM_025137.4(SPG11):c.6999+1G>C	noncoding	Pathogenic
15	44565928	G	A	G44565928A	SPG11	NM_025137.4(SPG11):c.6925C>T:p.Gln2309Ter	coding	Pathogenic/Likely_pathogenic
15	44566282	G	A	G44566282A	SPG11	NM_025137.4(SPG11):c.6778C>T:p.Gln2260Ter	coding	Pathogenic
15	44569188	A	G	A44569188G	SPG11	NM_025137.4(SPG11):c.6585+210T>C	noncoding	Benign
15	44570331	A	G	A44570331G	SPG11	NM_025137.4(SPG11):c.6477+194T>C	noncoding	Benign
15	44570428	C	T	C44570428T	SPG11	NM_025137.4(SPG11):c.6477+97G>A	noncoding	Benign
15	44572678	C	A	C44572678A	SPG11	NM_025137.4(SPG11):c.6343+5G>T	noncoding	Pathogenic
15	44572939	T	C	T44572939C	SPG11	NM_025137.4(SPG11):c.6206-119A>G	noncoding	Benign
15	44583798	G	T	G44583798T	SPG11	NM_025137.4(SPG11):c.5866+16C>A	noncoding	Benign
15	44584282	G	A	G44584282A	SPG11	NM_025137.4(SPG11):c.5398C>T:p.Gln1800Ter	coding	Pathogenic
15	44585684	C	T	C44585684T	SPG11	NM_025137.4(SPG11):c.5073G>A:p.Arg1691=	coding	Benign
15	44585725	C	A	C44585725A	SPG11	NM_025137.4(SPG11):c.5032G>T:p.Glu1678Ter	coding	Pathogenic
15	44585818	G	A	G44585818A	SPG11	NM_025137.4(SPG11):c.4939C>T:p.Gln1647Ter	coding	Pathogenic
15	44595273	G	A	G44595273A	SPG11	NM_025137.4(SPG11):c.4621C>T:p.Gln1541Ter	coding	Pathogenic
15	44595332	G	C	G44595332C	SPG11	NM_025137.4(SPG11):c.4562C>G:p.Ser1521Ter	coding	Pathogenic
15	44596072	A	G	A44596072G	SPG11	NM_025137.4(SPG11):c.4434+11T>C	noncoding	Benign
15	44596085	G	A	G44596085A	SPG11	NM_025137.4(SPG11):c.4432C>T:p.Gln1478Ter	coding	Pathogenic
15	44596945	T	C	T44596945C	SPG11	NM_025137.4(SPG11):c.4002-2A>G	noncoding	Pathogenic
15	44598269	T	A	T44598269A	SPG11	NM_025137.4(SPG11):c.3997A>T:p.Lys1333Ter	coding	Pathogenic
15	44600463	T	C	T44600463C	SPG11	NM_025137.4(SPG11):c.3686+4A>G	noncoding	Pathogenic
15	44610947	G	A	G44610947A	SPG11	NM_025137.4(SPG11):c.3184C>T:p.Gln1062Ter	coding	Pathogenic
15	44613435	A	C	A44613435C	SPG11	NM_025137.4(SPG11):c.3140T>G:p.Leu1047Ter	coding	Pathogenic
15	44613505	T	A	T44613505A	SPG11	NM_025137.4(SPG11):c.3070A>T:p.Lys1024Ter	coding	Pathogenic
15	44615365	G	T	G44615365T	SPG11	NM_025137.4(SPG11):c.3036C>A:p.Tyr1012Ter	coding	Pathogenic
15	44620189	C	A	C44620189A	SPG11	NM_025137.4(SPG11):c.2834+1G>T	noncoding	Pathogenic/Likely_pathogenic
15	44620284	G	A	G44620284A	SPG11	NM_025137.4(SPG11):c.2740C>T:p.Gln914Ter	coding	Pathogenic
15	44620346	C	T	C44620346T	SPG11	NM_025137.4(SPG11):c.2678G>A:p.Trp893Ter	coding	Pathogenic
15	44620418	A	C	A44620418C	SPG11	NM_025137.4(SPG11):c.2621-15T>G	noncoding	Benign/Likely_benign
15	44621489	A	C	A44621489C	SPG11	NM_025137.4(SPG11):c.2620+270T>G	noncoding	Benign
15	44622518	G	A	G44622518A	SPG11	NM_025137.4(SPG11):c.2317-171C>T	noncoding	Benign
15	44622665	C	A	C44622665A	SPG11	NM_025137.4(SPG11):c.2316+63G>T	noncoding	Benign
15	44626289	A	T	A44626289T	SPG11	NM_025137.4(SPG11):c.2244+42T>A	noncoding	Benign
15	44629531	C	T	C44629531T	SPG11	NM_025137.4(SPG11):c.1736-143G>A	noncoding	Benign
15	44651796	C	T	C44651796T	SPG11	NM_025137.4(SPG11):c.1151G>A:p.Trp384Ter	coding	Pathogenic
15	44651857	G	A	G44651857A	SPG11	NM_025137.4(SPG11):c.1090C>T:p.Gln364Ter	coding	Pathogenic
15	44652026	A	G	A44652026G	SPG11	NM_025137.4(SPG11):c.1008-87T>C	noncoding	Benign
15	44658976	A	G	A44658976G	SPG11	NM_025137.4(SPG11):c.667+103T>C	noncoding	Benign
15	44660618	T	G	T44660618G	SPG11	NM_025137.4(SPG11):c.258-2A>C	noncoding	Pathogenic/Likely_pathogenic
15	44660729	G	T	G44660729T	SPG11	NM_025137.4(SPG11):c.258-113C>A	noncoding	Benign
15	44663115	C	T	C44663115T	SPG11	NM_025137.4(SPG11):c.257+276G>A	noncoding	Benign
15	44663356	C	T	C44663356T	SPG11	NM_025137.4(SPG11):c.257+35G>A	noncoding	Benign
15	44663374	T	C	T44663374C	SPG11	NM_025137.4(SPG11):c.257+17A>G	noncoding	Benign/Likely_benign
15	44663458	G	A	G44663458A	SPG11	NM_025137.4(SPG11):c.190C>T:p.Gln64Ter	coding	Pathogenic
15	44663598	C	T	C44663598T	SPG11	NM_025137.4(SPG11):c.50G>A:p.Trp17Ter	coding	Pathogenic
15	44663625	G	C	G44663625C	SPG11	NM_025137.4(SPG11):c.23C>G:p.Ala8Gly	coding	Benign/Likely_benign
15	44668484	T	C	T44668484C	PATL2	NM_001387263.1(PATL2):c.1225-2A>G	noncoding	Pathogenic
15	44674191	T	C	T44674191C	PATL2	NM_001387263.1(PATL2):c.262A>G:p.Met88Val	coding	Benign
15	44711632	C	T	C44711632T	B2M	NM_004048.4(B2M):c.67+19C>T	noncoding	Benign
15	45043079	T	C	T45043079C	SORD	NM_003104.6(SORD):c.101-178T>C	noncoding	Benign
15	45060867	G	A	G45060867A	SORD	NM_003104.6(SORD):c.266-200G>A	noncoding	Benign
15	45061032	C	T	C45061032T	SORD	NM_003104.6(SORD):c.266-35C>T	coding	Benign
15	45061099	C	T	C45061099T	SORD	NM_003104.6(SORD):c.298C>T:p.Arg100Ter	coding	Pathogenic
15	45061129	C	T	C45061129T	SORD	NM_003104.6(SORD):c.328C>T:p.Arg110Ter	coding	Pathogenic
15	45065211	A	T	A45065211T	SORD	NM_003104.6(SORD):c.426-60A>T	noncoding	Benign
15	45065212	T	G	T45065212G	SORD	NM_003104.6(SORD):c.426-59T>G	noncoding	Benign
15	45065250	G	A	G45065250A	SORD	NM_003104.6(SORD):c.426-21G>A	noncoding	Benign
15	45065303	C	A	C45065303A	SORD	NM_003104.6(SORD):c.458C>A:p.Ala153Asp	coding	Pathogenic/Likely_pathogenic
15	45068389	G	T	G45068389T	SORD	NM_003104.6(SORD):c.610+143G>T	noncoding	Benign
15	45068785	A	G	A45068785G	SORD	NM_003104.6(SORD):c.611-92A>G	noncoding	Benign
15	45068813	C	T	C45068813T	SORD	NM_003104.6(SORD):c.611-64C>T	noncoding	Benign
15	45069043	G	A	G45069043A	SORD	NM_003104.6(SORD):c.777G>A:p.Ala259=	coding	Benign
15	45069087	A	G	A45069087G	SORD	NM_003104.6(SORD):c.786+35A>G	noncoding	Benign
15	45069181	A	C	A45069181C	SORD	NM_003104.6(SORD):c.786+129A>C	noncoding	Benign
15	45069204	T	C	T45069204C	SORD	NM_003104.6(SORD):c.786+152T>C	noncoding	Benign
15	45069207	T	C	T45069207C	SORD	NM_003104.6(SORD):c.786+155T>C	noncoding	Benign
15	45072119	C	T	C45072119T	SORD	NM_003104.6(SORD):c.787-198C>T	noncoding	Benign
15	45072336	A	C	A45072336C	SORD	NM_003104.6(SORD):c.806A>C:p.Asn269Thr	coding	Benign
15	45072449	C	T	C45072449T	SORD	NM_003104.6(SORD):c.908+11C>T	noncoding	Benign
15	45072571	G	A	G45072571A	SORD	NM_003104.6(SORD):c.908+133G>A	noncoding	Benign
15	45073177	C	G	C45073177G	SORD	NM_003104.6(SORD):c.909-188C>G	noncoding	Benign
15	45073407	T	C	T45073407C	SORD	NM_003104.6(SORD):c.951T>C:p.Asn317=	coding	Benign
15	45073420	G	T	G45073420T	SORD	NM_003104.6(SORD):c.964G>T:p.Val322Phe	coding	Benign
15	45073440	G	A	G45073440A	SORD	NM_003104.6(SORD):c.984G>A:p.Leu328=	coding	Benign
15	45073485	G	A	G45073485A	SORD	NM_003104.6(SORD):c.1029G>A:p.Gly343=	coding	Benign
15	45073498	C	A	C45073498A	SORD	NM_003104.6(SORD):c.1042C>A:p.Leu348Ile	coding	Benign
15	45073532	G	A	G45073532A	SORD	NM_003104.6(SORD):c.*2G>A	noncoding	Benign
15	45073564	T	C	T45073564C	SORD	NM_003104.6(SORD):c.*34T>C	noncoding	Benign
15	45073585	C	A	C45073585A	SORD	NM_003104.6(SORD):c.*55C>A	noncoding	Benign
15	45073592	T	C	T45073592C	SORD	NM_003104.6(SORD):c.*62T>C	noncoding	Benign
15	45073592	T	G	T45073592G	SORD	NM_003104.6(SORD):c.*62T>G	noncoding	Benign
15	45073594	G	A	G45073594A	SORD	NM_003104.6(SORD):c.*64G>A	noncoding	Benign
15	45094245	C	T	C45094245T	DUOX2	NM_001363711.2(DUOX2):c.4552G>A:p.Gly1518Ser	coding	Pathogenic/Likely_pathogenic
15	45094458	T	G	T45094458G	DUOX2	NM_001363711.2(DUOX2):c.4524+105A>C	noncoding	Benign
15	45095352	A	G	A45095352G	DUOX2	NM_001363711.2(DUOX2):c.4239+85T>C	noncoding	Benign
15	45095701	T	C	T45095701C	DUOX2	NM_001363711.2(DUOX2):c.4081-106A>G	noncoding	Benign
15	45096076	A	G	A45096076G	DUOX2	NM_001363711.2(DUOX2):c.3848-16T>C	noncoding	Benign
15	45096184	C	T	C45096184T	DUOX2	NM_001363711.2(DUOX2):c.3848-124G>A	noncoding	Benign
15	45096197	G	A	G45096197A	DUOX2	NM_001363711.2(DUOX2):c.3848-137C>T	noncoding	Benign
15	45099412	G	T	G45099412T	DUOX2	NM_001363711.2(DUOX2):c.3486C>A:p.Cys1162Ter	coding	Pathogenic
15	45099749	G	A	G45099749A	DUOX2	NM_001363711.2(DUOX2):c.3328C>T:p.Arg1110Ter	coding	Pathogenic/Likely_pathogenic
15	45100319	C	A	C45100319A	DUOX2	NM_001363711.2(DUOX2):c.3006-91G>T	noncoding	Benign
15	45100614	G	A	G45100614A	DUOX2	NM_001363711.2(DUOX2):c.3005+141C>T	noncoding	Benign
15	45101203	A	G	A45101203G	DUOX2	NM_001363711.2(DUOX2):c.2921+2T>C	noncoding	Pathogenic
15	45101469	A	G	A45101469G	DUOX2	NM_001363711.2(DUOX2):c.2852-195T>C	noncoding	Benign
15	45101541	C	T	C45101541T	DUOX2	NM_001363711.2(DUOX2):c.2851+252G>A	noncoding	Benign
15	45101732	G	A	G45101732A	DUOX2	NM_001363711.2(DUOX2):c.2851+61C>T	noncoding	Benign
15	45101892	C	A	C45101892A	DUOX2	NM_001363711.2(DUOX2):c.2752G>T:p.Glu918Ter	coding	Pathogenic
15	45102208	G	A	G45102208A	DUOX2	NM_001363711.2(DUOX2):c.2655-219C>T	noncoding	Benign
15	45103960	C	T	C45103960T	DUOX2	NM_001363711.2(DUOX2):c.2654G>A:p.Arg885Gln	coding	Pathogenic
15	45103979	C	T	C45103979T	DUOX2	NM_001363711.2(DUOX2):c.2635G>A:p.Glu879Lys	coding	Pathogenic
15	45104366	C	G	C45104366G	DUOX2	NM_001363711.2(DUOX2):c.2335-1G>C	coding	Pathogenic
15	45104414	T	C	T45104414C	DUOX2	NM_001363711.2(DUOX2):c.2335-49A>G	noncoding	Benign
15	45105368	G	C	G45105368C	DUOX2	NM_001363711.2(DUOX2):c.2334+275C>G	noncoding	Benign
15	45105891	C	G	C45105891G	DUOX2	NM_001363711.2(DUOX2):c.2149-63G>C	noncoding	Benign
15	45106033	T	G	T45106033G	DUOX2	NM_001363711.2(DUOX2):c.2148+92A>C	noncoding	Benign
15	45106172	G	A	G45106172A	DUOX2	NM_001363711.2(DUOX2):c.2101C>T:p.Arg701Ter	coding	Pathogenic
15	45106431	T	C	T45106431C	DUOX2	NM_001363711.2(DUOX2):c.1945+97A>G	noncoding	Benign
15	45106600	G	A	G45106600A	DUOX2	NM_001363711.2(DUOX2):c.1873C>T:p.Arg625Ter	coding	Pathogenic
15	45106767	G	T	G45106767T	DUOX2	NM_001363711.2(DUOX2):c.1831+65C>A	noncoding	Benign
15	45106877	G	A	G45106877A	DUOX2	NM_001363711.2(DUOX2):c.1786C>T:p.Pro596Ser	coding	Benign/Likely_benign
15	45106922	G	A	G45106922A	DUOX2	NM_001363711.2(DUOX2):c.1741C>T:p.Gln581Ter	coding	Pathogenic
15	45107113	C	T	C45107113T	DUOX2	NM_001363711.2(DUOX2):c.1694-144G>A	noncoding	Benign
15	45107269	A	G	A45107269G	DUOX2	NM_001363711.2(DUOX2):c.1693+76T>C	noncoding	Benign
15	45107432	G	A	G45107432A	DUOX2	NM_001363711.2(DUOX2):c.1606C>T:p.Arg536Ter	coding	Pathogenic
15	45107794	T	C	T45107794C	DUOX2	NM_001363711.2(DUOX2):c.1574+253A>G	noncoding	Benign
15	45107924	G	A	G45107924A	DUOX2	NM_001363711.2(DUOX2):c.1574+123C>T	noncoding	Benign
15	45107966	T	C	T45107966C	DUOX2	NM_001363711.2(DUOX2):c.1574+81A>G	noncoding	Benign
15	45108252	C	T	C45108252T	DUOX2	NM_001363711.2(DUOX2):c.1399-30G>A	noncoding	Benign
15	45108414	C	G	C45108414G	DUOX2	NM_001363711.2(DUOX2):c.1399-192G>C	noncoding	Benign
15	45108771	A	G	A45108771G	DUOX2	NM_001363711.2(DUOX2):c.1398+18T>C	noncoding	Benign
15	45109438	C	T	C45109438T	DUOX2	NM_001363711.2(DUOX2):c.1234+86G>A	noncoding	Benign
15	45109605	G	A	G45109605A	DUOX2	NM_001363711.2(DUOX2):c.1153C>T:p.Gln385Ter	coding	Pathogenic
15	45110632	C	G	C45110632G	DUOX2	NM_001363711.2(DUOX2):c.943+18G>C	noncoding	Benign
15	45110742	A	G	A45110742G	DUOX2	NM_001363711.2(DUOX2):c.883-32T>C	noncoding	Benign
15	45110767	G	T	G45110767T	DUOX2	NM_001363711.2(DUOX2):c.883-57C>A	noncoding	Benign
15	45110898	T	G	T45110898G	DUOX2	NM_001363711.2(DUOX2):c.883-188A>C	noncoding	Benign
15	45111075	C	A	C45111075A	DUOX2	NM_001363711.2(DUOX2):c.882+36G>T	noncoding	Benign
15	45111851	G	A	G45111851A	DUOX2	NM_001363711.2(DUOX2):c.430C>T:p.Gln144Ter	coding	Pathogenic
15	45112495	C	T	C45112495T	DUOX2	NM_001363711.2(DUOX2):c.325+59G>A	noncoding	Benign
15	45112539	C	T	C45112539T	DUOX2	NM_001363711.2(DUOX2):c.325+15G>A	noncoding	Benign
15	45112948	G	T	G45112948T	DUOX2	NM_001363711.2(DUOX2):c.160+39C>A	noncoding	Benign
15	45113125	C	A	C45113125A	DUOX2	NM_001363711.2(DUOX2):c.71-49G>T	noncoding	Benign
15	45113216	C	T	C45113216T	DUOX2	NM_001363711.2(DUOX2):c.70+126G>A	noncoding	Benign
15	45113265	G	T	G45113265T	DUOX2	NM_001363711.2(DUOX2):c.70+77C>A	noncoding	Benign
15	45114192	T	C	T45114192C	DUOXA2	Single_allele	noncoding	Benign
15	45114229	C	T	C45114229T	DUOXA2	Single_allele	noncoding	Benign
15	45114520	C	T	C45114520T	DUOXA2	NM_207581.4(DUOXA2):c.-86C>T	noncoding	Benign
15	45114846	C	A	C45114846A	DUOXA2	NM_207581.4(DUOXA2):c.147+94C>A	noncoding	Benign
15	45115769	C	T	C45115769T	DUOXA2	NM_207581.4(DUOXA2):c.148-30C>T	noncoding	Benign
15	45116493	C	G	C45116493G	DUOXA2	NM_207581.4(DUOXA2):c.341-23C>G	noncoding	Benign
15	45116760	T	A	T45116760A	DUOXA2	NM_207581.4(DUOXA2):c.554+31T>A	noncoding	Benign
15	45116792	G	C	G45116792C	DUOXA2	NM_207581.4(DUOXA2):c.554+63G>C	noncoding	Benign
15	45116815	G	A	G45116815A	DUOXA2	NM_207581.4(DUOXA2):c.554+86G>A	noncoding	Benign
15	45116998	A	G	A45116998G	DUOXA2	NM_207581.4(DUOXA2):c.555-93A>G	noncoding	Benign
15	45117274	C	T	C45117274T	DUOXA2	NM_207581.4(DUOXA2):c.738C>T:p.Tyr246=	coding	Benign
15	45117534	C	G	C45117534G	DUOXA2	NM_207581.4(DUOXA2):c.770-182C>G	coding	Benign
15	45139608	G	T	G45139608T	DUOX1	NM_175940.3(DUOX1):c.1389+9G>T	noncoding	Benign
15	45153958	C	T	C45153958T	DUOX1	NM_175940.3(DUOX1):c.3532C>T:p.Leu1178Phe	coding	Benign
15	45253280	C	T	C45253280T	SLC28A2	NM_004212.4(SLC28A2):c.65C>T:p.Pro22Leu	coding	Benign
15	45262069	C	A	C45262069A	SLC28A2	NM_004212.4(SLC28A2):c.225C>A:p.Ser75Arg	coding	Benign
15	45361410	T	G	T45361410G	GATM	NM_001482.3(GATM):c.*699A>C	noncoding	Benign
15	45362082	G	C	G45362082C	GATM	NM_001482.3(GATM):c.*27C>G	noncoding	Benign
15	45362137	C	T	C45362137T	GATM	NM_001482.3(GATM):c.1244G>A:p.Arg415Gln	coding	Benign
15	45363881	T	A	T45363881A	GATM	NM_001482.3(GATM):c.1159+19A>T	noncoding	Benign
15	45369409	A	C	A45369409C	GATM	NM_001482.3(GATM):c.401T>G:p.Leu134Ter	coding	Pathogenic
15	45376857	C	A	C45376857A	GATM	NM_001482.3(GATM):c.70-38G>T	noncoding	Benign
15	45376896	G	A	G45376896A	GATM	NM_001482.3(GATM):c.70-77C>T	noncoding	Benign
15	45402405	C	T	C45402405T	SPATA5L1	NM_024063.3(SPATA5L1):c.-25C>T	noncoding	Benign
15	45402570	G	T	G45402570T	SPATA5L1	NM_024063.3(SPATA5L1):c.141G>T:p.Val47=	coding	Benign
15	45402619	C	T	C45402619T	SPATA5L1	NM_024063.3(SPATA5L1):c.190C>T:p.Arg64Trp	coding	Pathogenic
15	45403163	T	A	T45403163A	SPATA5L1	NM_024063.3(SPATA5L1):c.734T>A:p.Val245Glu	coding	Pathogenic
15	45403184	G	A	G45403184A	SPATA5L1	NM_024063.3(SPATA5L1):c.755G>A:p.Arg252Gln	coding	Benign
15	45403250	G	T	G45403250T	SPATA5L1	NM_024063.3(SPATA5L1):c.821G>T:p.Arg274Leu	coding	Benign
15	45403414	C	T	C45403414T	SPATA5L1	NM_024063.3(SPATA5L1):c.985C>T:p.Leu329=	coding	Benign
15	45403497	G	A	G45403497A	SPATA5L1	NM_024063.3(SPATA5L1):c.1068G>A:p.Arg356=	coding	Benign
15	45410494	T	G	T45410494G	SPATA5L1	NM_024063.3(SPATA5L1):c.1398T>G:p.Ile466Met	coding	Pathogenic
15	45415768	C	G	C45415768G	SPATA5L1	NM_024063.3(SPATA5L1):c.1826C>G:p.Ser609Ter	coding	Pathogenic
15	45587805	T	C	T45587805C	BLOC1S6	NM_012388.4(BLOC1S6):c.82+280T>C	coding	Benign
15	45592293	C	A	C45592293A	BLOC1S6	NM_012388.4(BLOC1S6):c.224+17C>A	noncoding	Benign
15	45592324	G	T	G45592324T	BLOC1S6	NM_012388.4(BLOC1S6):c.224+48G>T	noncoding	Benign
15	45592328	C	T	C45592328T	BLOC1S6	NM_012388.4(BLOC1S6):c.224+52C>T	noncoding	Benign
15	45592481	C	T	C45592481T	BLOC1S6	NM_012388.4(BLOC1S6):c.224+205C>T	noncoding	Benign
15	45606300	A	G	A45606300G	BLOC1S6	NM_012388.4(BLOC1S6):c.400-95A>G	noncoding	Benign
15	45606685	A	T	A45606685T	BLOC1S6	NM_012388.4(BLOC1S6):c.*171A>T	noncoding	Benign
15	45606702	T	C	T45606702C	BLOC1S6	NM_012388.4(BLOC1S6):c.*188T>C	noncoding	Benign
15	45673784	G	A	G45673784A	SQOR	NM_021199.4(SQOR):c.637G>A:p.Glu213Lys	coding	Pathogenic
15	48121919	C	T	C48121919T	SLC24A5	NM_205850.3(SLC24A5):c.184C>T:p.Gln62Ter	coding	Pathogenic
15	48122011	A	G	A48122011G	SLC24A5	NM_205850.3(SLC24A5):c.276A>G:p.Leu92=	coding	Benign
15	48207506	C	T	C48207506T	SLC12A1	NM_000338.3(SLC12A1):c.-186-28C>T	noncoding	Benign
15	48207783	C	T	C48207783T	SLC12A1	NM_000338.3(SLC12A1):c.64C>T:p.Gln22Ter	coding	Pathogenic
15	48207942	C	T	C48207942T	SLC12A1	NM_000338.3(SLC12A1):c.223C>T:p.Gln75Ter	coding	Pathogenic
15	48208101	C	T	C48208101T	SLC12A1	NM_000338.3(SLC12A1):c.382C>T:p.Arg128Ter	coding	Pathogenic
15	48221142	T	C	T48221142C	SLC12A1	NM_000338.3(SLC12A1):c.628+146T>C	noncoding	Benign
15	48221155	G	C	G48221155C	SLC12A1	NM_000338.3(SLC12A1):c.628+159G>C	noncoding	Benign
15	48228904	G	A	G48228904A	SLC12A1	NM_000338.3(SLC12A1):c.725-285G>A	noncoding	Benign
15	48228918	T	G	T48228918G	SLC12A1	NM_000338.3(SLC12A1):c.725-271T>G	noncoding	Benign
15	48229233	G	A	G48229233A	SLC12A1	NM_000338.3(SLC12A1):c.769G>A:p.Gly257Ser	coding	Pathogenic
15	48230533	A	T	A48230533T	SLC12A1	NM_000338.3(SLC12A1):c.975+30A>T	noncoding	Benign
15	48233123	T	C	T48233123C	SLC12A1	NM_000338.3(SLC12A1):c.1087+285T>C	noncoding	Benign
15	48241611	G	A	G48241611A	SLC12A1	NM_000338.3(SLC12A1):c.1300+12G>A	noncoding	Benign/Likely_benign
15	48241704	G	A	G48241704A	SLC12A1	NM_000338.3(SLC12A1):c.1300+105G>A	noncoding	Benign
15	48244857	A	T	A48244857T	SLC12A1	NM_000338.3(SLC12A1):c.1405A>T:p.Arg469Ter	coding	Pathogenic
15	48246587	C	A	C48246587A	SLC12A1	NM_000338.3(SLC12A1):c.1453-322C>A	noncoding	Benign
15	48246829	A	T	A48246829T	SLC12A1	NM_000338.3(SLC12A1):c.1453-80A>T	noncoding	Benign
15	48246846	G	A	G48246846A	SLC12A1	NM_000338.3(SLC12A1):c.1453-63G>A	noncoding	Benign
15	48247609	G	A	G48247609A	SLC12A1	NM_000338.3(SLC12A1):c.1684+149G>A	noncoding	Benign
15	48249316	A	G	A48249316G	SLC12A1	NM_000338.3(SLC12A1):c.1685-259A>G	noncoding	Benign
15	48249503	G	A	G48249503A	SLC12A1	NM_000338.3(SLC12A1):c.1685-72G>A	noncoding	Benign
15	48249798	A	G	A48249798G	SLC12A1	NM_000338.3(SLC12A1):c.1786+122A>G	noncoding	Benign
15	48249830	G	A	G48249830A	SLC12A1	NM_000338.3(SLC12A1):c.1786+154G>A	noncoding	Benign
15	48249907	G	A	G48249907A	SLC12A1	NM_000338.3(SLC12A1):c.1786+231G>A	noncoding	Benign
15	48251855	G	T	G48251855T	SLC12A1	NM_000338.3(SLC12A1):c.1942+85G>T	noncoding	Benign
15	48255556	G	A	G48255556A	SLC12A1	NM_000338.3(SLC12A1):c.1943-255G>A	noncoding	Benign
15	48255779	T	C	T48255779C	SLC12A1	NM_000338.3(SLC12A1):c.1943-32T>C	noncoding	Benign
15	48255912	T	A	T48255912A	SLC12A1	NM_000338.3(SLC12A1):c.2042+2T>A	noncoding	Pathogenic
15	48256154	G	A	G48256154A	SLC12A1	NM_000338.3(SLC12A1):c.2042+244G>A	noncoding	Benign
15	48259252	G	A	G48259252A	SLC12A1	NM_000338.3(SLC12A1):c.2095G>A:p.Asp699Asn	coding	Benign
15	48267530	G	A	G48267530A	SLC12A1	NM_000338.3(SLC12A1):c.2155-31G>A	noncoding	Benign
15	48269501	C	T	C48269501T	SLC12A1	NM_000338.3(SLC12A1):c.2296-157C>T	noncoding	Benign
15	48269534	T	C	T48269534C	SLC12A1	NM_000338.3(SLC12A1):c.2296-124T>C	noncoding	Benign
15	48269637	A	G	A48269637G	SLC12A1	NM_000338.3(SLC12A1):c.2296-21A>G	noncoding	Benign
15	48269983	C	A	C48269983A	SLC12A1	NM_000338.3(SLC12A1):c.2402+219C>A	noncoding	Benign
15	48274649	G	A	G48274649A	SLC12A1	NM_000338.3(SLC12A1):c.2481G>A:p.Val827=	coding	Benign
15	48274817	T	C	T48274817C	SLC12A1	NM_000338.3(SLC12A1):c.2485+164T>C	noncoding	Benign
15	48274924	G	A	G48274924A	SLC12A1	NM_000338.3(SLC12A1):c.2485+271G>A	noncoding	Benign
15	48284997	C	G	C48284997G	SLC12A1	NM_000338.3(SLC12A1):c.2486-109C>G	noncoding	Benign
15	48285204	A	T	A48285204T	SLC12A1	NM_000338.3(SLC12A1):c.2584A>T:p.Lys862Ter	coding	Pathogenic
15	48287874	T	C	T48287874C	SLC12A1	NM_000338.3(SLC12A1):c.2630-169T>C	noncoding	Benign
15	48288021	A	T	A48288021T	SLC12A1	NM_000338.3(SLC12A1):c.2630-22A>T	noncoding	Benign
15	48288129	C	T	C48288129T	SLC12A1	NM_000338.3(SLC12A1):c.2716C>T:p.Gln906Ter	coding	Pathogenic/Likely_pathogenic
15	48288376	A	T	A48288376T	SLC12A1	NM_000338.3(SLC12A1):c.2762-29A>T	noncoding	Benign
15	48291640	C	A	C48291640A	SLC12A1	NM_000338.3(SLC12A1):c.2874-138C>A	noncoding	Benign
15	48291886	A	C	A48291886C	SLC12A1	NM_000338.3(SLC12A1):c.2960+22A>C	noncoding	Benign
15	48292131	T	G	T48292131G	SLC12A1	NM_000338.3(SLC12A1):c.2960+267T>G	noncoding	Benign
15	48299070	C	T	C48299070T	SLC12A1	NM_000338.3(SLC12A1):c.2961-70C>T	noncoding	Benign
15	48301054	T	G	T48301054G	SLC12A1	NM_000338.3(SLC12A1):c.3097-261T>G	noncoding	Benign
15	48301383	G	A	G48301383A	SLC12A1	NM_000338.3(SLC12A1):c.3164+1G>A	coding	Pathogenic/Likely_pathogenic
15	48301512	A	G	A48301512G	SLC12A1	NM_000338.3(SLC12A1):c.3164+130A>G	noncoding	Benign
15	48301657	T	C	T48301657C	SLC12A1	NM_000338.3(SLC12A1):c.3164+275T>C	noncoding	Benign
15	48331804	G	A	G48331804A	DUT	NM_001025248.2(DUT):c.280+9G>A	noncoding	Benign
15	48334422	A	G	A48334422G	DUT	NM_001025248.2(DUT):c.425A>G:p.Tyr142Cys	coding	Pathogenic
15	48411059	A	T	A48411059T	FBN1	NM_000138.5(FBN1):c.8547T>A:p.Tyr2849Ter	coding	Pathogenic
15	48411243	G	A	G48411243A	FBN1	NM_000138.5(FBN1):c.8363C>T:p.Thr2788Met	coding	Benign/Likely_benign
15	48411276	A	T	A48411276T	FBN1	NM_000138.5(FBN1):c.8330T>A:p.Ile2777Asn	coding	Pathogenic
15	48412647	G	C	G48412647C	FBN1	NM_000138.5(FBN1):c.8148C>G:p.Tyr2716Ter	coding	Pathogenic/Likely_pathogenic
15	48412647	G	T	G48412647T	FBN1	NM_000138.5(FBN1):c.8148C>A:p.Tyr2716Ter	coding	Pathogenic
15	48412738	C	A	C48412738A	FBN1	NM_000138.5(FBN1):c.8057G>T:p.Cys2686Phe	coding	Pathogenic
15	48415540	G	A	G48415540A	FBN1	NM_000138.5(FBN1):c.8047C>T:p.Gln2683Ter	coding	Pathogenic
15	48415566	C	T	C48415566T	FBN1	NM_000138.5(FBN1):c.8021G>A:p.Cys2674Tyr	coding	Pathogenic/Likely_pathogenic
15	48415567	A	G	A48415567G	FBN1	NM_000138.5(FBN1):c.8020T>C:p.Cys2674Arg	coding	Pathogenic/Likely_pathogenic
15	48415582	C	A	C48415582A	FBN1	NM_000138.5(FBN1):c.8005G>T:p.Gly2669Cys	coding	Pathogenic/Likely_pathogenic
15	48415604	A	T	A48415604T	FBN1	NM_000138.5(FBN1):c.7983T>A:p.Tyr2661Ter	coding	Pathogenic
15	48415621	G	A	G48415621A	FBN1	NM_000138.5(FBN1):c.7966C>T:p.Gln2656Ter	coding	Pathogenic
15	48415632	C	T	C48415632T	FBN1	NM_000138.5(FBN1):c.7955G>A:p.Cys2652Tyr	coding	Pathogenic/Likely_pathogenic
15	48415675	G	A	G48415675A	FBN1	NM_000138.5(FBN1):c.7912C>T:p.Gln2638Ter	coding	Pathogenic
15	48415695	C	A	C48415695A	FBN1	NM_000138.5(FBN1):c.7892G>T:p.Cys2631Phe	coding	Pathogenic/Likely_pathogenic
15	48415723	A	C	A48415723C	FBN1	NM_000138.5(FBN1):c.7864T>G:p.Cys2622Gly	coding	Pathogenic
15	48420691	A	T	A48420691T	FBN1	NM_000138.5(FBN1):c.7815T>A:p.Cys2605Ter	coding	Pathogenic
15	48420701	C	T	C48420701T	FBN1	NM_000138.5(FBN1):c.7805G>A:p.Trp2602Ter	coding	Pathogenic
15	48420706	G	C	G48420706C	FBN1	NM_000138.5(FBN1):c.7800C>G:p.Tyr2600Ter	coding	Pathogenic/Likely_pathogenic
15	48420718	G	T	G48420718T	FBN1	NM_000138.5(FBN1):c.7788C>A:p.Tyr2596Ter	coding	Pathogenic
15	48420764	C	G	C48420764G	FBN1	NM_000138.5(FBN1):c.7742G>C:p.Cys2581Ser	coding	Pathogenic
15	48420765	A	T	A48420765T	FBN1	NM_000138.5(FBN1):c.7741T>A:p.Cys2581Ser	coding	Pathogenic
15	48420794	C	T	C48420794T	FBN1	NM_000138.5(FBN1):c.7712G>A:p.Cys2571Tyr	coding	Pathogenic/Likely_pathogenic
15	48421557	C	T	C48421557T	FBN1	NM_000138.5(FBN1):c.7699+1G>A	noncoding	Pathogenic/Likely_pathogenic
15	48421561	C	A	C48421561A	FBN1	NM_000138.5(FBN1):c.7696G>T:p.Glu2566Ter	coding	Pathogenic
15	48421673	G	T	G48421673T	FBN1	NM_000138.5(FBN1):c.7584C>A:p.Cys2528Ter	coding	Pathogenic
15	48421674	C	G	C48421674G	FBN1	NM_000138.5(FBN1):c.7583G>C:p.Cys2528Ser	coding	Pathogenic
15	48421678	C	G	C48421678G	FBN1	NM_000138.5(FBN1):c.7579G>C:p.Glu2527Gln	coding	Pathogenic
15	48421889	T	C	T48421889C	FBN1	NM_000138.5(FBN1):c.7570+63A>G	noncoding	Benign
15	48421989	A	C	A48421989C	FBN1	NM_000138.5(FBN1):c.7533T>G:p.Cys2511Trp	coding	Pathogenic/Likely_pathogenic
15	48421990	C	T	C48421990T	FBN1	NM_000138.5(FBN1):c.7532G>A:p.Cys2511Tyr	coding	Pathogenic
15	48421995	G	T	G48421995T	FBN1	NM_000138.5(FBN1):c.7527C>A:p.Cys2509Ter	coding	Pathogenic
15	48422069	C	A	C48422069A	FBN1	NM_000138.5(FBN1):c.7454-1G>T	coding	Pathogenic
15	48422069	C	G	C48422069G	FBN1	NM_000138.5(FBN1):c.7454-1G>C	coding	Pathogenic
15	48425368	C	T	C48425368T	FBN1	NM_000138.5(FBN1):c.7453+1G>A	noncoding	Pathogenic/Likely_pathogenic
15	48425375	A	G	A48425375G	FBN1	NM_000138.5(FBN1):c.7447T>C:p.Cys2483Arg	coding	Pathogenic
15	48425393	G	A	G48425393A	FBN1	NM_000138.5(FBN1):c.7429C>T:p.Gln2477Ter	coding	Pathogenic
15	48425414	A	T	A48425414T	FBN1	NM_000138.5(FBN1):c.7408T>A:p.Cys2470Ser	coding	Pathogenic
15	48425435	C	A	C48425435A	FBN1	NM_000138.5(FBN1):c.7387G>T:p.Glu2463Ter	coding	Pathogenic/Likely_pathogenic
15	48425458	C	T	C48425458T	FBN1	NM_000138.5(FBN1):c.7364G>A:p.Cys2455Tyr	coding	Pathogenic/Likely_pathogenic
15	48425745	A	T	A48425745T	FBN1	NM_000138.5(FBN1):c.7324T>A:p.Cys2442Ser	coding	Pathogenic
15	48425831	C	T	C48425831T	FBN1	NM_000138.5(FBN1):c.7238G>A:p.Cys2413Tyr	coding	Pathogenic
15	48425852	C	T	C48425852T	FBN1	NM_000138.5(FBN1):c.7217G>A:p.Cys2406Tyr	coding	Pathogenic/Likely_pathogenic
15	48427504	G	T	G48427504T	FBN1	NM_000138.5(FBN1):c.7204+63C>A	noncoding	Benign
15	48427566	C	A	C48427566A	FBN1	NM_000138.5(FBN1):c.7204+1G>T	noncoding	Pathogenic/Likely_pathogenic
15	48427566	C	T	C48427566T	FBN1	NM_000138.5(FBN1):c.7204+1G>A	noncoding	Pathogenic
15	48428306	G	A	G48428306A	FBN1	NM_000138.5(FBN1):c.6997+40C>T	noncoding	Benign
15	48428328	G	A	G48428328A	FBN1	NM_000138.5(FBN1):c.6997+18C>T	noncoding	Benign
15	48428361	G	A	G48428361A	FBN1	NM_000138.5(FBN1):c.6982C>T:p.Gln2328Ter	coding	Pathogenic
15	48428391	A	G	A48428391G	FBN1	NM_000138.5(FBN1):c.6952T>C:p.Cys2318Arg	coding	Pathogenic
15	48428396	C	T	C48428396T	FBN1	NM_000138.5(FBN1):c.6947G>A:p.Cys2316Tyr	coding	Pathogenic
15	48428427	G	A	G48428427A	FBN1	NM_000138.5(FBN1):c.6916C>T:p.Arg2306Cys	coding	Pathogenic
15	48429527	G	C	G48429527C	FBN1	NM_000138.5(FBN1):c.6872-1056C>G	noncoding	Benign
15	48430748	C	T	C48430748T	FBN1	NM_000138.5(FBN1):c.6794G>A:p.Cys2265Tyr	coding	Pathogenic
15	48430749	A	T	A48430749T	FBN1	NM_000138.5(FBN1):c.6793T>A:p.Cys2265Ser	coding	Pathogenic
15	48430804	T	C	T48430804C	FBN1	NM_000138.5(FBN1):c.6740-2A>G	noncoding	Pathogenic
15	48432864	A	T	A48432864T	FBN1	NM_000138.5(FBN1):c.6739+2T>A	noncoding	Pathogenic
15	48432872	A	G	A48432872G	FBN1	NM_000138.5(FBN1):c.6733T>C:p.Cys2245Arg	coding	Pathogenic
15	48432930	A	C	A48432930C	FBN1	NM_000138.5(FBN1):c.6675T>G:p.Tyr2225Ter	coding	Pathogenic
15	48432942	A	C	A48432942C	FBN1	NM_000138.5(FBN1):c.6663T>G:p.Cys2221Trp	coding	Pathogenic
15	48432976	C	T	C48432976T	FBN1	NM_000138.5(FBN1):c.6629G>A:p.Cys2210Tyr	coding	Pathogenic/Likely_pathogenic
15	48432977	A	G	A48432977G	FBN1	NM_000138.5(FBN1):c.6628T>C:p.Cys2210Arg	coding	Pathogenic/Likely_pathogenic
15	48434174	G	A	G48434174A	FBN1	NM_000138.5(FBN1):c.6616+420C>T	noncoding	Benign
15	48434592	A	G	A48434592G	FBN1	NM_000138.5(FBN1):c.6616+2T>C	noncoding	Pathogenic
15	48434715	T	C	T48434715C	FBN1	NM_000138.5(FBN1):c.6497-2A>G	noncoding	Pathogenic
15	48436833	T	C	T48436833C	FBN1	NM_000138.5(FBN1):c.6496+128A>G	noncoding	Benign
15	48437003	C	A	C48437003A	FBN1	NM_000138.5(FBN1):c.6454G>T:p.Glu2152Ter	coding	Pathogenic
15	48437033	A	G	A48437033G	FBN1	NM_000138.5(FBN1):c.6424T>C:p.Cys2142Arg	coding	Pathogenic
15	48437162	A	T	A48437162T	FBN1	NM_000138.5(FBN1):c.6380-85T>A	noncoding	Benign
15	48437207	G	A	G48437207A	FBN1	NM_000138.5(FBN1):c.6379+115C>T	noncoding	Benign
15	48437330	G	C	G48437330C	FBN1	NM_000138.5(FBN1):c.6371C>G:p.Ser2124Ter	coding	Pathogenic
15	48437370	A	C	A48437370C	FBN1	NM_000138.5(FBN1):c.6331T>G:p.Cys2111Gly	coding	Pathogenic
15	48437389	T	C	T48437389C	FBN1	NM_000138.5(FBN1):c.6314-2A>G	noncoding	Pathogenic
15	48437389	T	G	T48437389G	FBN1	NM_000138.5(FBN1):c.6314-2A>C	noncoding	Pathogenic
15	48437451	T	C	T48437451C	FBN1	NM_000138.5(FBN1):c.6314-64A>G	noncoding	Benign
15	48437767	C	T	C48437767T	FBN1	NM_000138.5(FBN1):c.6313+1G>A	noncoding	Pathogenic
15	48437779	G	A	G48437779A	FBN1	NM_000138.5(FBN1):c.6302C>T:p.Thr2101Met	coding	Benign/Likely_benign
15	48437828	A	C	A48437828C	FBN1	NM_000138.5(FBN1):c.6253T>G:p.Cys2085Gly	coding	Pathogenic
15	48437882	C	A	C48437882A	FBN1	NM_000138.5(FBN1):c.6199G>T:p.Gly2067Ter	coding	Pathogenic
15	48441764	A	C	A48441764C	FBN1	NM_000138.5(FBN1):c.6120T>G:p.Cys2040Trp	coding	Pathogenic
15	48441765	C	T	C48441765T	FBN1	NM_000138.5(FBN1):c.6119G>A:p.Cys2040Tyr	coding	Pathogenic/Likely_pathogenic
15	48441771	C	A	C48441771A	FBN1	NM_000138.5(FBN1):c.6113G>T:p.Cys2038Phe	coding	Pathogenic
15	48441771	C	T	C48441771T	FBN1	NM_000138.5(FBN1):c.6113G>A:p.Cys2038Tyr	coding	Pathogenic
15	48441813	C	T	C48441813T	FBN1	NM_000138.5(FBN1):c.6071G>A:p.Cys2024Tyr	coding	Pathogenic/Likely_pathogenic
15	48441829	C	A	C48441829A	FBN1	NM_000138.5(FBN1):c.6055G>T:p.Glu2019Ter	coding	Pathogenic
15	48441833	A	C	A48441833C	FBN1	NM_000138.5(FBN1):c.6051T>G:p.Cys2017Trp	coding	Pathogenic/Likely_pathogenic
15	48441834	C	T	C48441834T	FBN1	NM_000138.5(FBN1):c.6050G>A:p.Cys2017Tyr	coding	Pathogenic/Likely_pathogenic
15	48441838	C	T	C48441838T	FBN1	NM_000138.5(FBN1):c.6046G>A:p.Glu2016Lys	coding	Pathogenic/Likely_pathogenic
15	48444487	A	T	A48444487T	FBN1	NM_000138.5(FBN1):c.6037+54T>A	noncoding	Benign
15	48444544	C	A	C48444544A	FBN1	NM_000138.5(FBN1):c.6034G>T:p.Glu2012Ter	coding	Pathogenic
15	48444547	A	G	A48444547G	FBN1	NM_000138.5(FBN1):c.6031T>C:p.Cys2011Arg	coding	Pathogenic
15	48444584	G	C	G48444584C	FBN1	NM_000138.5(FBN1):c.5994C>G:p.Cys1998Trp	coding	Pathogenic
15	48444590	G	T	G48444590T	FBN1	NM_000138.5(FBN1):c.5988C>A:p.Tyr1996Ter	coding	Pathogenic
15	48444618	C	G	C48444618G	FBN1	NM_000138.5(FBN1):c.5960G>C:p.Gly1987Ala	coding	Pathogenic
15	48444628	A	G	A48444628G	FBN1	NM_000138.5(FBN1):c.5950T>C:p.Cys1984Arg	coding	Pathogenic
15	48445127	T	C	T48445127C	FBN1	NM_000138.5(FBN1):c.5917+249A>G	noncoding	Benign
15	48445420	C	T	C48445420T	FBN1	NM_000138.5(FBN1):c.5873G>A:p.Cys1958Tyr	coding	Pathogenic
15	48445453	C	T	C48445453T	FBN1	NM_000138.5(FBN1):c.5840G>A:p.Cys1947Tyr	coding	Pathogenic/Likely_pathogenic
15	48445454	A	C	A48445454C	FBN1	NM_000138.5(FBN1):c.5839T>G:p.Cys1947Gly	coding	Pathogenic
15	48445454	A	T	A48445454T	FBN1	NM_000138.5(FBN1):c.5839T>A:p.Cys1947Ser	coding	Pathogenic
15	48445491	A	C	A48445491C	FBN1	NM_000138.5(FBN1):c.5802T>G:p.Cys1934Trp	coding	Pathogenic
15	48445493	A	T	A48445493T	FBN1	NM_000138.5(FBN1):c.5800T>A:p.Cys1934Ser	coding	Pathogenic
15	48446687	C	T	C48446687T	FBN1	NM_000138.5(FBN1):c.5788+19G>A	noncoding	Benign/Likely_benign
15	48446751	G	A	G48446751A	FBN1	NM_000138.5(FBN1):c.5743C>T:p.Arg1915Cys	coding	Pathogenic/Likely_pathogenic
15	48446811	A	G	A48446811G	FBN1	NM_000138.5(FBN1):c.5683T>C:p.Cys1895Arg	coding	Pathogenic/Likely_pathogenic
15	48446885	C	A	C48446885A	FBN1	NM_000138.5(FBN1):c.5672-63G>T	noncoding	Benign
15	48448846	A	G	A48448846G	FBN1	NM_000138.5(FBN1):c.5593T>C:p.Cys1865Arg	coding	Pathogenic
15	48448884	T	C	T48448884C	FBN1	NM_000138.5(FBN1):c.5555A>G:p.Glu1852Gly	coding	Pathogenic
15	48452594	C	T	C48452594T	FBN1	NM_000138.5(FBN1):c.5513G>A:p.Gly1838Asp	coding	Pathogenic
15	48452626	A	C	A48452626C	FBN1	NM_000138.5(FBN1):c.5481T>G:p.Thr1827=	coding	Benign/Likely_benign
15	48452637	A	G	A48452637G	FBN1	NM_000138.5(FBN1):c.5470T>C:p.Cys1824Arg	coding	Pathogenic/Likely_pathogenic
15	48452654	C	T	C48452654T	FBN1	NM_000138.5(FBN1):c.5453G>A:p.Cys1818Tyr	coding	Pathogenic
15	48456636	C	T	C48456636T	FBN1	NM_000138.5(FBN1):c.5422+1G>A	noncoding	Pathogenic
15	48456672	C	A	C48456672A	FBN1	NM_000138.5(FBN1):c.5387G>T:p.Gly1796Val	coding	Pathogenic
15	48456754	C	T	C48456754T	FBN1	NM_000138.5(FBN1):c.5305G>A:p.Glu1769Lys	coding	Pathogenic
15	48456887	G	A	G48456887A	FBN1	NM_000138.5(FBN1):c.5297-125C>T	noncoding	Benign
15	48460254	A	T	A48460254T	FBN1	NM_000138.5(FBN1):c.5288T>A:p.Leu1763Ter	coding	Pathogenic
15	48462971	T	C	T48462971C	FBN1	NM_000138.5(FBN1):c.5224+111A>G	noncoding	Benign
15	48463129	C	T	C48463129T	FBN1	NM_000138.5(FBN1):c.5177G>A:p.Gly1726Asp	coding	Pathogenic/Likely_pathogenic
15	48463132	A	T	A48463132T	FBN1	NM_000138.5(FBN1):c.5174T>A:p.Ile1725Asn	coding	Pathogenic
15	48463211	A	T	A48463211T	FBN1	NM_000138.5(FBN1):c.5095T>A:p.Tyr1699Asn	coding	Pathogenic
15	48463903	G	T	G48463903T	FBN1	NM_000138.5(FBN1):c.5061C>A:p.Cys1687Ter	coding	Pathogenic
15	48463904	C	A	C48463904A	FBN1	NM_000138.5(FBN1):c.5060G>T:p.Cys1687Phe	coding	Pathogenic/Likely_pathogenic
15	48463905	A	G	A48463905G	FBN1	NM_000138.5(FBN1):c.5059T>C:p.Cys1687Arg	coding	Pathogenic
15	48463991	C	T	C48463991T	FBN1	NM_000138.5(FBN1):c.4973G>A:p.Cys1658Tyr	coding	Pathogenic
15	48464023	T	C	T48464023C	FBN1	NM_000138.5(FBN1):c.4943-2A>G	noncoding	Pathogenic
15	48465566	A	C	A48465566C	FBN1	NM_000138.5(FBN1):c.4942+2T>G	noncoding	Pathogenic
15	48465566	A	G	A48465566G	FBN1	NM_000138.5(FBN1):c.4942+2T>C	noncoding	Pathogenic
15	48465658	G	A	G48465658A	FBN1	NM_000138.5(FBN1):c.4852C>T:p.Gln1618Ter	coding	Pathogenic
15	48465685	C	A	C48465685A	FBN1	NM_000138.5(FBN1):c.4825G>T:p.Glu1609Ter	coding	Pathogenic
15	48465694	C	G	C48465694G	FBN1	NM_000138.5(FBN1):c.4817-1G>C	coding	Pathogenic
15	48465694	C	T	C48465694T	FBN1	NM_000138.5(FBN1):c.4817-1G>A	coding	Pathogenic
15	48465729	T	C	T48465729C	FBN1	NM_000138.5(FBN1):c.4817-36A>G	noncoding	Benign
15	48465776	G	A	G48465776A	FBN1	NM_000138.5(FBN1):c.4816+14C>T	noncoding	Benign
15	48465935	A	C	A48465935C	FBN1	NM_000138.5(FBN1):c.4748-77T>G	noncoding	Benign
15	48467954	A	T	A48467954T	FBN1	NM_000138.5(FBN1):c.4731T>A:p.Cys1577Ter	coding	Pathogenic
15	48467962	C	A	C48467962A	FBN1	NM_000138.5(FBN1):c.4723G>T:p.Glu1575Ter	coding	Pathogenic
15	48468001	A	G	A48468001G	FBN1	NM_000138.5(FBN1):c.4684T>C:p.Cys1562Arg	coding	Pathogenic/Likely_pathogenic
15	48468110	C	G	C48468110G	FBN1	NM_000138.5(FBN1):c.4583-8G>C	noncoding	Benign/Likely_benign
15	48468348	T	C	T48468348C	FBN1	NM_000138.5(FBN1):c.4582+64A>G	noncoding	Benign
15	48468455	G	C	G48468455C	FBN1	NM_000138.5(FBN1):c.4539C>G:p.Cys1513Trp	coding	Pathogenic/Likely_pathogenic
15	48468483	T	C	T48468483C	FBN1	NM_000138.5(FBN1):c.4511A>G:p.Asn1504Ser	coding	Pathogenic
15	48468490	A	G	A48468490G	FBN1	NM_000138.5(FBN1):c.4504T>C:p.Cys1502Arg	coding	Pathogenic
15	48468503	G	T	G48468503T	FBN1	NM_000138.5(FBN1):c.4491C>A:p.Cys1497Ter	coding	Pathogenic
15	48468523	A	G	A48468523G	FBN1	NM_000138.5(FBN1):c.4471T>C:p.Cys1491Arg	coding	Pathogenic
15	48468523	A	T	A48468523T	FBN1	NM_000138.5(FBN1):c.4471T>A:p.Cys1491Ser	coding	Pathogenic
15	48468700	G	A	G48468700A	FBN1	NM_000138.5(FBN1):c.4460-166C>T	noncoding	Benign
15	48470679	A	G	A48470679G	FBN1	NM_000138.5(FBN1):c.4414T>C:p.Cys1472Arg	coding	Pathogenic/Likely_pathogenic
15	48470679	A	T	A48470679T	FBN1	NM_000138.5(FBN1):c.4414T>A:p.Cys1472Ser	coding	Pathogenic
15	48470684	C	T	C48470684T	FBN1	NM_000138.5(FBN1):c.4409G>A:p.Cys1470Tyr	coding	Pathogenic/Likely_pathogenic
15	48470711	C	A	C48470711A	FBN1	NM_000138.5(FBN1):c.4382G>T:p.Cys1461Phe	coding	Pathogenic/Likely_pathogenic
15	48470711	C	T	C48470711T	FBN1	NM_000138.5(FBN1):c.4382G>A:p.Cys1461Tyr	coding	Pathogenic
15	48470712	A	G	A48470712G	FBN1	NM_000138.5(FBN1):c.4381T>C:p.Cys1461Arg	coding	Pathogenic
15	48470811	A	T	A48470811T	FBN1	NM_000138.5(FBN1):c.4337-55T>A	noncoding	Benign
15	48471071	C	T	C48471071T	FBN1	NM_000138.5(FBN1):c.4337-315G>A	noncoding	Benign
15	48472550	C	A	C48472550A	FBN1	NM_000138.5(FBN1):c.4336+1G>T	noncoding	Pathogenic
15	48472550	C	T	C48472550T	FBN1	NM_000138.5(FBN1):c.4336+1G>A	noncoding	Pathogenic
15	48472551	C	T	C48472551T	FBN1	NM_000138.5(FBN1):c.4336G>A:p.Asp1446Asn	coding	Pathogenic/Likely_pathogenic
15	48472555	A	C	A48472555C	FBN1	NM_000138.5(FBN1):c.4332T>G:p.Cys1444Trp	coding	Pathogenic
15	48472556	C	G	C48472556G	FBN1	NM_000138.5(FBN1):c.4331G>C:p.Cys1444Ser	coding	Pathogenic
15	48472606	G	T	G48472606T	FBN1	NM_000138.5(FBN1):c.4281C>A:p.Tyr1427Ter	coding	Pathogenic
15	48472617	G	A	G48472617A	FBN1	NM_000138.5(FBN1):c.4270C>T:p.Pro1424Ser	coding	Pathogenic
15	48472629	A	G	A48472629G	FBN1	NM_000138.5(FBN1):c.4258T>C:p.Cys1420Arg	coding	Pathogenic
15	48472677	C	T	C48472677T	FBN1	NM_000138.5(FBN1):c.4211-1G>A	coding	Pathogenic/Likely_pathogenic
15	48472745	A	G	A48472745G	FBN1	NM_000138.5(FBN1):c.4211-69T>C	noncoding	Benign
15	48474053	G	C	G48474053C	FBN1	NM_000138.5(FBN1):c.4210+202C>G	noncoding	Benign
15	48474285	C	A	C48474285A	FBN1	NM_000138.5(FBN1):c.4180G>T:p.Gly1394Ter	coding	Pathogenic
15	48474293	C	T	C48474293T	FBN1	NM_000138.5(FBN1):c.4172G>A:p.Cys1391Tyr	coding	Pathogenic
15	48474343	G	T	G48474343T	FBN1	NM_000138.5(FBN1):c.4122C>A:p.Cys1374Ter	coding	Pathogenic
15	48474344	C	T	C48474344T	FBN1	NM_000138.5(FBN1):c.4121G>A:p.Cys1374Tyr	coding	Pathogenic
15	48474483	T	C	T48474483C	FBN1	NM_000138.5(FBN1):c.4087+45A>G	noncoding	Benign
15	48474571	A	C	A48474571C	FBN1	NM_000138.5(FBN1):c.4044T>G:p.Cys1348Trp	coding	Pathogenic
15	48474573	A	G	A48474573G	FBN1	NM_000138.5(FBN1):c.4042T>C:p.Cys1348Arg	coding	Pathogenic
15	48474584	C	T	C48474584T	FBN1	NM_000138.5(FBN1):c.4031G>A:p.Gly1344Glu	coding	Pathogenic/Likely_pathogenic
15	48474642	C	A	C48474642A	FBN1	NM_000138.5(FBN1):c.3973G>T:p.Glu1325Ter	coding	Pathogenic
15	48481494	C	A	C48481494A	FBN1	NM_000138.5(FBN1):c.3964+161G>T	noncoding	Benign
15	48481729	T	C	T48481729C	FBN1	NM_000138.5(FBN1):c.3890A>G:p.Glu1297Gly	coding	Benign/Likely_benign
15	48483596	C	T	C48483596T	FBN1	NM_000138.5(FBN1):c.3838+222G>A	noncoding	Benign
15	48483816	A	G	A48483816G	FBN1	NM_000138.5(FBN1):c.3838+2T>C	noncoding	Pathogenic
15	48483858	A	G	A48483858G	FBN1	NM_000138.5(FBN1):c.3798T>C:p.Tyr1266=	coding	Benign/Likely_benign
15	48483862	C	A	C48483862A	FBN1	NM_000138.5(FBN1):c.3794G>T:p.Cys1265Phe	coding	Pathogenic
15	48483932	A	G	A48483932G	FBN1	NM_000138.5(FBN1):c.3724T>C:p.Cys1242Arg	coding	Pathogenic
15	48485382	G	C	G48485382C	FBN1	NM_000138.5(FBN1):c.3704C>G:p.Ser1235Ter	coding	Pathogenic
15	48485425	A	G	A48485425G	FBN1	NM_000138.5(FBN1):c.3661T>C:p.Cys1221Arg	coding	Pathogenic
15	48485430	T	C	T48485430C	FBN1	NM_000138.5(FBN1):c.3656A>G:p.Tyr1219Cys	coding	Pathogenic/Likely_pathogenic
15	48485451	C	G	C48485451G	FBN1	NM_000138.5(FBN1):c.3635G>C:p.Cys1212Ser	coding	Pathogenic
15	48485470	C	A	C48485470A	FBN1	NM_000138.5(FBN1):c.3616G>T:p.Gly1206Cys	coding	Pathogenic
15	48486941	G	A	G48486941A	FBN1	NM_000138.5(FBN1):c.3589+134C>T	noncoding	Benign
15	48487023	C	A	C48487023A	FBN1	NM_000138.5(FBN1):c.3589+52G>T	noncoding	Benign
15	48487110	C	T	C48487110T	FBN1	NM_000138.5(FBN1):c.3554G>A:p.Gly1185Asp	coding	Pathogenic/Likely_pathogenic
15	48487126	A	G	A48487126G	FBN1	NM_000138.5(FBN1):c.3538T>C:p.Cys1180Arg	coding	Pathogenic
15	48487153	A	G	A48487153G	FBN1	NM_000138.5(FBN1):c.3511T>C:p.Cys1171Arg	coding	Pathogenic
15	48487189	A	G	A48487189G	FBN1	NM_000138.5(FBN1):c.3475T>C:p.Cys1159Arg	coding	Pathogenic/Likely_pathogenic
15	48487191	T	C	T48487191C	FBN1	NM_000138.5(FBN1):c.3473A>G:p.Glu1158Gly	coding	Pathogenic
15	48487201	C	T	C48487201T	FBN1	NM_000138.5(FBN1):c.3464-1G>A	coding	Pathogenic
15	48487332	G	C	G48487332C	FBN1	NM_000138.5(FBN1):c.3443C>G:p.Pro1148Arg	coding	Benign
15	48487353	G	A	G48487353A	FBN1	NM_000138.5(FBN1):c.3422C>T:p.Pro1141Leu	coding	Benign/Likely_benign
15	48487362	C	A	C48487362A	FBN1	NM_000138.5(FBN1):c.3413G>T:p.Cys1138Phe	coding	Pathogenic/Likely_pathogenic
15	48487362	C	G	C48487362G	FBN1	NM_000138.5(FBN1):c.3413G>C:p.Cys1138Ser	coding	Pathogenic/Likely_pathogenic
15	48487390	A	G	A48487390G	FBN1	NM_000138.5(FBN1):c.3385T>C:p.Cys1129Arg	coding	Pathogenic
15	48487426	A	G	A48487426G	FBN1	NM_000138.5(FBN1):c.3349T>C:p.Cys1117Arg	coding	Pathogenic
15	48487438	C	G	C48487438G	FBN1	NM_000138.5(FBN1):c.3338-1G>C	coding	Pathogenic
15	48487892	A	C	A48487892C	FBN1	NM_000138.5(FBN1):c.3337+221T>G	noncoding	Benign
15	48488111	A	G	A48488111G	FBN1	NM_000138.5(FBN1):c.3337+2T>C	noncoding	Pathogenic
15	48488117	G	T	G48488117T	FBN1	NM_000138.5(FBN1):c.3333C>A:p.Cys1111Ter	coding	Pathogenic
15	48488372	G	T	G48488372T	FBN1	NM_000138.5(FBN1):c.3204C>A:p.Cys1068Ter	coding	Pathogenic
15	48488449	T	A	T48488449A	FBN1	NM_000138.5(FBN1):c.3127A>T:p.Lys1043Ter	coding	Pathogenic
15	48488460	C	T	C48488460T	FBN1	NM_000138.5(FBN1):c.3116G>A:p.Cys1039Tyr	coding	Pathogenic
15	48489869	C	A	C48489869A	FBN1	NM_000138.5(FBN1):c.3064G>T:p.Gly1022Ter	coding	Pathogenic
15	48489910	C	G	C48489910G	FBN1	NM_000138.5(FBN1):c.3023G>C:p.Cys1008Ser	coding	Pathogenic
15	48489911	A	G	A48489911G	FBN1	NM_000138.5(FBN1):c.3022T>C:p.Cys1008Arg	coding	Pathogenic
15	48489947	A	T	A48489947T	FBN1	NM_000138.5(FBN1):c.2986T>A:p.Cys996Ser	coding	Pathogenic
15	48489970	C	T	C48489970T	FBN1	NM_000138.5(FBN1):c.2963G>A:p.Trp988Ter	coding	Pathogenic
15	48492300	T	C	T48492300C	FBN1	NM_000138.5(FBN1):c.2854+161A>G	noncoding	Benign
15	48492461	C	T	C48492461T	FBN1	NM_000138.5(FBN1):c.2854G>A:p.Asp952Asn	coding	Pathogenic
15	48492467	A	G	A48492467G	FBN1	NM_000138.5(FBN1):c.2848T>C:p.Cys950Arg	coding	Pathogenic
15	48492539	A	G	A48492539G	FBN1	NM_000138.5(FBN1):c.2776T>C:p.Cys926Arg	coding	Pathogenic
15	48492551	T	A	T48492551A	FBN1	NM_000138.5(FBN1):c.2764A>T:p.Lys922Ter	coding	Pathogenic
15	48492562	G	C	G48492562C	FBN1	NM_000138.5(FBN1):c.2753C>G:p.Pro918Arg	coding	Benign/Likely_benign
15	48492587	C	T	C48492587T	FBN1	NM_000138.5(FBN1):c.2729-1G>A	coding	Pathogenic
15	48492588	T	C	T48492588C	FBN1	NM_000138.5(FBN1):c.2729-2A>G	noncoding	Pathogenic/Likely_pathogenic
15	48492718	T	C	T48492718C	FBN1	NM_000138.5(FBN1):c.2729-132A>G	noncoding	Benign
15	48494245	C	T	C48494245T	FBN1	NM_000138.5(FBN1):c.2687G>A:p.Cys896Tyr	coding	Pathogenic
15	48495048	T	C	T48495048C	FBN1	NM_000138.5(FBN1):c.2677+75A>G	noncoding	Benign
15	48495127	T	C	T48495127C	FBN1	NM_000138.5(FBN1):c.2673A>G:p.Gln891=	coding	Pathogenic/Likely_pathogenic
15	48495130	G	T	G48495130T	FBN1	NM_000138.5(FBN1):c.2670C>A:p.Cys890Ter	coding	Pathogenic
15	48495141	A	T	A48495141T	FBN1	NM_000138.5(FBN1):c.2659T>A:p.Cys887Ser	coding	Pathogenic
15	48495149	C	T	C48495149T	FBN1	NM_000138.5(FBN1):c.2651G>A:p.Gly884Glu	coding	Pathogenic
15	48495152	C	T	C48495152T	FBN1	NM_000138.5(FBN1):c.2648G>A:p.Trp883Ter	coding	Pathogenic
15	48495156	C	T	C48495156T	FBN1	NM_000138.5(FBN1):c.2644G>A:p.Ala882Thr	coding	Pathogenic/Likely_pathogenic
15	48495172	G	C	G48495172C	FBN1	NM_000138.5(FBN1):c.2628C>G:p.Cys876Trp	coding	Pathogenic
15	48495215	C	T	C48495215T	FBN1	NM_000138.5(FBN1):c.2585G>A:p.Cys862Tyr	coding	Pathogenic
15	48495576	C	T	C48495576T	FBN1	NM_000138.5(FBN1):c.2432G>A:p.Cys811Tyr	coding	Pathogenic/Likely_pathogenic
15	48495580	C	A	C48495580A	FBN1	NM_000138.5(FBN1):c.2428G>T:p.Glu810Ter	coding	Pathogenic
15	48496151	A	G	A48496151G	FBN1	NM_000138.5(FBN1):c.2368T>C:p.Cys790Arg	coding	Pathogenic
15	48496239	G	C	G48496239C	FBN1	NM_000138.5(FBN1):c.2294-14C>G	noncoding	Benign
15	48497265	C	T	C48497265T	FBN1	NM_000138.5(FBN1):c.2293+1G>A	noncoding	Pathogenic/Likely_pathogenic
15	48497322	T	C	T48497322C	FBN1	NM_000138.5(FBN1):c.2237A>G:p.Tyr746Cys	coding	Pathogenic/Likely_pathogenic
15	48498984	C	T	C48498984T	FBN1	NM_000138.5(FBN1):c.2167+1G>A	noncoding	Pathogenic
15	48499021	A	G	A48499021G	FBN1	NM_000138.5(FBN1):c.2131T>C:p.Cys711Arg	coding	Pathogenic/Likely_pathogenic
15	48499031	A	T	A48499031T	FBN1	NM_000138.5(FBN1):c.2121T>A:p.Tyr707Ter	coding	Pathogenic
15	48499036	C	A	C48499036A	FBN1	NM_000138.5(FBN1):c.2116G>T:p.Glu706Ter	coding	Pathogenic
15	48503680	G	A	G48503680A	FBN1	NM_000138.5(FBN1):c.2113+107C>T	noncoding	Benign
15	48503812	G	T	G48503812T	FBN1	NM_000138.5(FBN1):c.2088C>A:p.Cys696Ter	coding	Pathogenic
15	48503846	C	T	C48503846T	FBN1	NM_000138.5(FBN1):c.2054G>A:p.Cys685Tyr	coding	Pathogenic/Likely_pathogenic
15	48503850	A	G	A48503850G	FBN1	NM_000138.5(FBN1):c.2050T>C:p.Cys684Arg	coding	Pathogenic/Likely_pathogenic
15	48503852	C	T	C48503852T	FBN1	NM_000138.5(FBN1):c.2048G>A:p.Cys683Tyr	coding	Pathogenic
15	48503905	G	C	G48503905C	FBN1	NM_000138.5(FBN1):c.1995C>G:p.Tyr665Ter	coding	Pathogenic
15	48503905	G	T	G48503905T	FBN1	NM_000138.5(FBN1):c.1995C>A:p.Tyr665Ter	coding	Pathogenic
15	48504140	C	T	C48504140T	FBN1	NM_000138.5(FBN1):c.1961-201G>A	noncoding	Benign
15	48504927	T	A	T48504927A	FBN1	NM_000138.5(FBN1):c.1960+98A>T	noncoding	Benign
15	48505069	C	A	C48505069A	FBN1	NM_000138.5(FBN1):c.1916G>T:p.Cys639Phe	coding	Pathogenic
15	48505075	C	G	C48505075G	FBN1	NM_000138.5(FBN1):c.1910G>C:p.Cys637Ser	coding	Pathogenic
15	48505075	C	T	C48505075T	FBN1	NM_000138.5(FBN1):c.1910G>A:p.Cys637Tyr	coding	Pathogenic
15	48505117	C	A	C48505117A	FBN1	NM_000138.5(FBN1):c.1868G>T:p.Cys623Phe	coding	Pathogenic/Likely_pathogenic
15	48505134	A	C	A48505134C	FBN1	NM_000138.5(FBN1):c.1851T>G:p.Cys617Trp	coding	Pathogenic
15	48505135	C	G	C48505135G	FBN1	NM_000138.5(FBN1):c.1850G>C:p.Cys617Ser	coding	Pathogenic
15	48505139	C	A	C48505139A	FBN1	NM_000138.5(FBN1):c.1846G>T:p.Glu616Ter	coding	Pathogenic/Likely_pathogenic
15	48505148	C	A	C48505148A	FBN1	NM_000138.5(FBN1):c.1838-1G>T	coding	Pathogenic
15	48505149	T	C	T48505149C	FBN1	NM_000138.5(FBN1):c.1838-2A>G	noncoding	Pathogenic
15	48505227	C	A	C48505227A	FBN1	NM_000138.5(FBN1):c.1838-80G>T	noncoding	Benign
15	48508374	C	A	C48508374A	FBN1	NM_000138.5(FBN1):c.1837+208G>T	noncoding	Benign
15	48508582	C	T	C48508582T	FBN1	NM_000138.5(FBN1):c.1837G>A:p.Asp613Asn	coding	Pathogenic/Likely_pathogenic
15	48508588	A	G	A48508588G	FBN1	NM_000138.5(FBN1):c.1831T>C:p.Cys611Arg	coding	Pathogenic
15	48508627	A	C	A48508627C	FBN1	NM_000138.5(FBN1):c.1792T>G:p.Cys598Gly	coding	Pathogenic
15	48508631	A	T	A48508631T	FBN1	NM_000138.5(FBN1):c.1788T>A:p.Cys596Ter	coding	Pathogenic
15	48508632	C	T	C48508632T	FBN1	NM_000138.5(FBN1):c.1787G>A:p.Cys596Tyr	coding	Pathogenic/Likely_pathogenic
15	48508675	A	G	A48508675G	FBN1	NM_000138.5(FBN1):c.1744T>C:p.Cys582Arg	coding	Pathogenic
15	48508706	T	C	T48508706C	FBN1	NM_000138.5(FBN1):c.1715-2A>G	noncoding	Pathogenic
15	48510095	A	G	A48510095G	FBN1	NM_000138.5(FBN1):c.1663T>C:p.Cys555Arg	coding	Pathogenic/Likely_pathogenic
15	48510120	G	T	G48510120T	FBN1	NM_000138.5(FBN1):c.1638C>A:p.Cys546Ter	coding	Pathogenic
15	48510128	C	G	C48510128G	FBN1	NM_000138.5(FBN1):c.1630G>C:p.Gly544Arg	coding	Pathogenic
15	48510137	A	C	A48510137C	FBN1	NM_000138.5(FBN1):c.1621T>G:p.Cys541Gly	coding	Pathogenic
15	48510157	C	G	C48510157G	FBN1	NM_000138.5(FBN1):c.1601G>C:p.Cys534Ser	coding	Pathogenic
15	48510157	C	T	C48510157T	FBN1	NM_000138.5(FBN1):c.1601G>A:p.Cys534Tyr	coding	Pathogenic/Likely_pathogenic
15	48513440	G	A	G48513440A	FBN1	NM_000138.5(FBN1):c.1588+109C>T	noncoding	Benign
15	48513597	G	A	G48513597A	FBN1	NM_000138.5(FBN1):c.1540C>T:p.Gln514Ter	coding	Pathogenic
15	48513615	G	A	G48513615A	FBN1	NM_000138.5(FBN1):c.1522C>T:p.Gln508Ter	coding	Pathogenic/Likely_pathogenic
15	48513763	C	T	C48513763T	FBN1	NM_000138.5(FBN1):c.1469-95G>A	noncoding	Benign
15	48513830	T	C	T48513830C	FBN1	NM_000138.5(FBN1):c.1469-162A>G	noncoding	Benign
15	48515386	C	T	C48515386T	FBN1	NM_000138.5(FBN1):c.1468+1G>A	noncoding	Pathogenic
15	48515387	C	A	C48515387A	FBN1	NM_000138.5(FBN1):c.1468G>T:p.Asp490Tyr	coding	Pathogenic
15	48515396	C	A	C48515396A	FBN1	NM_000138.5(FBN1):c.1459G>T:p.Glu487Ter	coding	Pathogenic/Likely_pathogenic
15	48515528	C	T	C48515528T	FBN1	NM_000138.5(FBN1):c.1328-1G>A	coding	Pathogenic
15	48520708	C	A	C48520708A	FBN1	NM_000138.5(FBN1):c.1098G>T:p.Trp366Cys	coding	Pathogenic/Likely_pathogenic
15	48520730	C	A	C48520730A	FBN1	NM_000138.5(FBN1):c.1076G>T:p.Cys359Phe	coding	Pathogenic
15	48520800	A	G	A48520800G	FBN1	NM_000138.5(FBN1):c.1006T>C:p.Cys336Arg	coding	Pathogenic
15	48520885	C	A	C48520885A	FBN1	NM_000138.5(FBN1):c.989-68G>T	noncoding	Benign
15	48520910	G	T	G48520910T	FBN1	NM_000138.5(FBN1):c.989-93C>A	noncoding	Benign
15	48526185	G	C	G48526185C	FBN1	NM_000138.5(FBN1):c.933C>G:p.Tyr311Ter	coding	Pathogenic
15	48596027	A	G	A48596027G	FBN1	NM_000138.5(FBN1):c.538+256T>C	noncoding	Benign
15	48596310	C	A	C48596310A	FBN1	NM_000138.5(FBN1):c.511G>T:p.Gly171Ter	coding	Pathogenic
15	48596324	C	T	C48596324T	FBN1	NM_000138.5(FBN1):c.497G>A:p.Cys166Tyr	coding	Pathogenic/Likely_pathogenic
15	48596325	A	T	A48596325T	FBN1	NM_000138.5(FBN1):c.496T>A:p.Cys166Ser	coding	Pathogenic/Likely_pathogenic
15	48596343	A	G	A48596343G	FBN1	NM_000138.5(FBN1):c.478T>C:p.Cys160Arg	coding	Pathogenic/Likely_pathogenic
15	48610774	G	T	G48610774T	FBN1	NM_000138.5(FBN1):c.300C>A:p.Cys100Ter	coding	Pathogenic
15	48610776	A	G	A48610776G	FBN1	NM_000138.5(FBN1):c.298T>C:p.Cys100Arg	coding	Pathogenic
15	48610790	G	T	G48610790T	FBN1	NM_000138.5(FBN1):c.284C>A:p.Ser95Ter	coding	Pathogenic
15	48613018	C	T	C48613018T	FBN1	NM_000138.5(FBN1):c.239G>A:p.Cys80Tyr	coding	Pathogenic/Likely_pathogenic
15	48613046	A	T	A48613046T	FBN1	NM_000138.5(FBN1):c.211T>A:p.Trp71Arg	coding	Pathogenic
15	48613082	A	G	A48613082G	FBN1	NM_000138.5(FBN1):c.175T>C:p.Cys59Arg	coding	Pathogenic
15	48644643	T	A	T48644643A	FBN1	NM_000138.5(FBN1):c.127A>T:p.Lys43Ter	coding	Pathogenic
15	48644682	C	A	C48644682A	FBN1	NM_000138.5(FBN1):c.88G>T:p.Glu30Ter	coding	Pathogenic
15	48644805	C	G	C48644805G	FBN1	NM_000138.5(FBN1):c.-36G>C	noncoding	Benign
15	48739246	G	T	G48739246T	CEP152	NM_001194998.2(CEP152):c.4136C>A:p.Ser1379Ter	coding	Pathogenic
15	48741617	G	C	G48741617C	CEP152	NM_001194998.2(CEP152):c.4077C>G:p.Ser1359Arg	coding	Benign
15	48744220	A	C	A48744220C	CEP152	NM_001194998.2(CEP152):c.3835+20T>G	noncoding	Benign
15	48744898	T	C	T48744898C	CEP152	NM_001194998.2(CEP152):c.3729A>G:p.Pro1243=	coding	Benign
15	48744915	G	C	G48744915C	CEP152	NM_001194998.2(CEP152):c.3712C>G:p.Leu1238Val	coding	Benign
15	48744969	C	A	C48744969A	CEP152	NM_001194998.2(CEP152):c.3658G>T:p.Glu1220Ter	coding	Pathogenic
15	48748303	T	G	T48748303G	CEP152	NM_001194998.2(CEP152):c.3634+140A>C	noncoding	Benign
15	48756211	C	A	C48756211A	CEP152	NM_001194998.2(CEP152):c.3037G>T:p.Glu1013Ter	coding	Pathogenic
15	48762635	C	T	C48762635T	CEP152	NM_001194998.2(CEP152):c.2318G>A:p.Trp773Ter	coding	Pathogenic
15	48762755	C	A	C48762755A	CEP152	NM_001194998.2(CEP152):c.2281-83G>T	noncoding	Benign
15	48762965	T	C	T48762965C	CEP152	NM_001194998.2(CEP152):c.2281-293A>G	noncoding	Benign
15	48767973	T	C	T48767973C	CEP152	NM_001194998.2(CEP152):c.2018+246A>G	noncoding	Benign
15	48782245	A	T	A48782245T	CEP152	NM_001194998.2(CEP152):c.1322-15T>A	noncoding	Benign
15	48782342	C	T	C48782342T	CEP152	NM_001194998.2(CEP152):c.1322-112G>A	noncoding	Benign
15	48782505	C	G	C48782505G	CEP152	NM_001194998.2(CEP152):c.1322-275G>C	noncoding	Benign
15	48791219	A	C	A48791219C	CEP152	NM_001194998.2(CEP152):c.972+18T>G	noncoding	Benign
15	48797527	C	T	C48797527T	CEP152	NM_001194998.2(CEP152):c.314G>A:p.Trp105Ter	coding	Pathogenic/Likely_pathogenic
15	48805448	T	A	T48805448A	CEP152	NM_001194998.2(CEP152):c.87+115A>T	noncoding	Benign
15	48805537	T	C	T48805537C	CEP152	NM_001194998.2(CEP152):c.87+26A>G	noncoding	Benign
15	50263347	G	A	G50263347A	HDC	NM_002112.4(HDC):c.92C>T:p.Thr31Met	coding	Benign
15	50439016	G	C	G50439016C	USP8	NM_005154.5(USP8):c.-58G>C	noncoding	Benign
15	50439193	C	T	C50439193T	USP8	NM_005154.5(USP8):c.104+16C>T	noncoding	Benign
15	50490506	A	G	A50490506G	USP8	NM_005154.5(USP8):c.2215A>G:p.Thr739Ala	coding	Benign
15	50492753	C	T	C50492753T	USP8	NM_005154.5(USP8):c.2287C>T:p.Arg763Trp	coding	Benign
15	50492758	C	A	C50492758A	USP8	NM_005154.5(USP8):c.2292C>A:p.Asn764Lys	coding	Benign
15	50497247	T	G	T50497247G	USP8	NM_005154.5(USP8):c.3038+16T>G	noncoding	Benign
15	50561374	A	G	A50561374G	TRPM7	NM_017672.6(TRPM7):c.*304T>C	noncoding	Benign
15	50574885	G	A	G50574885A	TRPM7	NM_017672.6(TRPM7):c.4986C>T:p.Tyr1662=	coding	Benign
15	50586281	G	A	G50586281A	TRPM7	NM_017672.6(TRPM7):c.4486+111C>T	noncoding	Benign
15	50593779	G	T	G50593779T	TRPM7	NM_017672.6(TRPM7):c.3476-30C>A	noncoding	Benign
15	50594002	G	C	G50594002C	TRPM7	NM_017672.6(TRPM7):c.3476-253C>G	noncoding	Benign
15	50594296	C	T	C50594296T	TRPM7	NM_017672.6(TRPM7):c.3475+133G>A	noncoding	Benign
15	50594775	A	C	A50594775C	TRPM7	NM_017672.6(TRPM7):c.3291-162T>G	noncoding	Benign
15	50595978	T	A	T50595978A	TRPM7	NM_017672.6(TRPM7):c.3290+277A>T	noncoding	Benign
15	50596371	A	G	A50596371G	TRPM7	NM_017672.6(TRPM7):c.3174T>C:p.Asn1058=	coding	Benign
15	50596422	A	T	A50596422T	TRPM7	NM_017672.6(TRPM7):c.3164-41T>A	noncoding	Benign
15	50613583	G	A	G50613583A	TRPM7	NM_017672.6(TRPM7):c.1770+124C>T	noncoding	Benign
15	50620095	A	G	A50620095G	TRPM7	NM_017672.6(TRPM7):c.1441-297T>C	noncoding	Benign
15	50620108	T	C	T50620108C	TRPM7	NM_017672.6(TRPM7):c.1441-310A>G	noncoding	Benign
15	50623901	A	G	A50623901G	TRPM7	NM_017672.6(TRPM7):c.1440+265T>C	noncoding	Benign
15	50632798	G	A	G50632798A	TRPM7	NM_017672.6(TRPM7):c.1131+71C>T	noncoding	Benign
15	50634136	C	G	C50634136G	TRPM7	NM_017672.6(TRPM7):c.1007+246G>C	noncoding	Benign
15	50639226	G	T	G50639226T	TRPM7	NM_017672.6(TRPM7):c.660+198C>A	noncoding	Benign
15	50639233	A	T	A50639233T	TRPM7	NM_017672.6(TRPM7):c.660+191T>A	noncoding	Benign
15	50639552	T	C	T50639552C	TRPM7	NM_017672.6(TRPM7):c.536-4A>G	noncoding	Benign
15	50643110	G	A	G50643110A	TRPM7	NM_017672.6(TRPM7):c.535+230C>T	noncoding	Benign
15	50648911	C	G	C50648911G	TRPM7	NM_017672.6(TRPM7):c.123-26G>C	noncoding	Benign
15	50662750	T	C	T50662750C	TRPM7	NM_017672.6(TRPM7):c.83+217A>G	noncoding	Benign
15	50686530	C	G	C50686530G	TRPM7	NM_017672.6(TRPM7):c.3+1G>C	noncoding	Pathogenic
15	50686929	G	C	G50686929C	TRPM7	Single_allele	noncoding	Benign
15	50707809	G	C	G50707809C	SPPL2A	NM_032802.4(SPPL2A):c.1554C>G:p.Val518=	coding	Benign
15	50720004	G	C	G50720004C	SPPL2A	NM_032802.4(SPPL2A):c.1424C>G:p.Thr475Ser	coding	Benign
15	50720101	C	T	C50720101T	SPPL2A	NM_032802.4(SPPL2A):c.1328-1G>A	coding	Pathogenic
15	50722112	A	G	A50722112G	SPPL2A	NM_032802.4(SPPL2A):c.1327+12T>C	noncoding	Benign
15	50725291	G	T	G50725291T	SPPL2A	NM_032802.4(SPPL2A):c.1179C>A:p.Ile393=	coding	Benign
15	50726381	A	C	A50726381C	SPPL2A	NM_032802.4(SPPL2A):c.1090-4T>G	noncoding	Benign
15	50731019	G	C	G50731019C	SPPL2A	NM_032802.4(SPPL2A):c.1035C>G:p.Gly345=	coding	Benign
15	50731056	C	T	C50731056T	SPPL2A	NM_032802.4(SPPL2A):c.1015-17G>A	noncoding	Benign
15	50739679	C	T	C50739679T	SPPL2A	NM_032802.4(SPPL2A):c.733+1G>A	noncoding	Pathogenic
15	50748096	T	C	T50748096C	SPPL2A	NM_032802.4(SPPL2A):c.450+17A>G	noncoding	Benign
15	50748187	T	C	T50748187C	SPPL2A	NM_032802.4(SPPL2A):c.376A>G:p.Asn126Asp	coding	Benign
15	50749712	C	T	C50749712T	SPPL2A	NM_032802.4(SPPL2A):c.101G>A:p.Gly34Glu	coding	Benign
15	50765458	G	A	G50765458A	SPPL2A	NM_032802.4(SPPL2A):c.66+10C>T	noncoding	Benign
15	50765522	C	A	C50765522A	SPPL2A	NM_032802.4(SPPL2A):c.12G>T:p.Gln4His	coding	Benign
15	50909160	G	T	G50909160T	AP4E1	NM_007347.5(AP4E1):c.150+232G>T	noncoding	Benign
15	50915621	G	C	G50915621C	AP4E1	NM_007347.5(AP4E1):c.346+50G>C	noncoding	Benign
15	50915786	G	A	G50915786A	AP4E1	NM_007347.5(AP4E1):c.346+215G>A	noncoding	Benign
15	50925078	T	C	T50925078C	AP4E1	NM_007347.5(AP4E1):c.421-20T>C	noncoding	Benign
15	50930674	G	C	G50930674C	AP4E1	NM_007347.5(AP4E1):c.703-131G>C	noncoding	Benign
15	50941650	G	A	G50941650A	AP4E1	NM_007347.5(AP4E1):c.1067-16G>A	noncoding	Benign
15	50949575	T	C	T50949575C	AP4E1	NM_007347.5(AP4E1):c.1317-251T>C	noncoding	Benign
15	50949714	G	A	G50949714A	AP4E1	NM_007347.5(AP4E1):c.1317-112G>A	noncoding	Benign
15	50949949	T	C	T50949949C	AP4E1	NM_007347.5(AP4E1):c.1429+11T>C	noncoding	Benign
15	50950428	G	A	G50950428A	AP4E1	NM_007347.5(AP4E1):c.1548+259G>A	noncoding	Benign
15	50958251	A	G	A50958251G	AP4E1	NM_007347.5(AP4E1):c.1549-241A>G	noncoding	Benign
15	50983931	A	G	A50983931G	AP4E1	NM_007347.5(AP4E1):c.1967-91A>G	noncoding	Benign
15	50993896	A	G	A50993896G	AP4E1	NM_007347.5(AP4E1):c.2346+271A>G	noncoding	Benign
15	50997704	G	T	G50997704T	AP4E1	NM_007347.5(AP4E1):c.2725G>T:p.Glu909Ter	coding	Pathogenic
15	51001447	A	G	A51001447G	AP4E1	NM_007347.5(AP4E1):c.3253+264A>G	noncoding	Benign
15	51002300	A	G	A51002300G	AP4E1	NM_007347.5(AP4E1):c.3254-202A>G	noncoding	Benign
15	51002561	C	T	C51002561T	AP4E1	NM_007347.5(AP4E1):c.3313C>T:p.Arg1105Ter	coding	Pathogenic
15	51002798	G	A	G51002798A	AP4E1	NM_007347.5(AP4E1):c.*136G>A	noncoding	Benign
15	51210647	A	C	A51210647C	CYP19A1	NM_000103.4(CYP19A1):c.*161T>G	noncoding	Benign
15	51211281	C	T	C51211281T	CYP19A1	NM_000103.4(CYP19A1):c.1264-225G>A	noncoding	Benign
15	51212457	T	A	T51212457A	CYP19A1	NM_000103.4(CYP19A1):c.1126A>T:p.Lys376Ter	coding	Pathogenic
15	51212614	A	C	A51212614C	CYP19A1	NM_000103.4(CYP19A1):c.1022-53T>G	noncoding	Benign
15	51212737	T	G	T51212737G	CYP19A1	NM_000103.4(CYP19A1):c.1022-176A>C	noncoding	Benign
15	51215082	G	A	G51215082A	CYP19A1	NM_000103.4(CYP19A1):c.1009C>T:p.Gln337Ter	coding	Pathogenic
15	51215311	T	C	T51215311C	CYP19A1	NM_000103.4(CYP19A1):c.859-79A>G	noncoding	Benign
15	51215413	C	T	C51215413T	CYP19A1	NM_000103.4(CYP19A1):c.859-181G>A	noncoding	Benign
15	51215585	T	G	T51215585G	CYP19A1	NM_000103.4(CYP19A1):c.858+118A>C	noncoding	Benign
15	51215597	T	C	T51215597C	CYP19A1	NM_000103.4(CYP19A1):c.858+106A>G	noncoding	Benign
15	51215677	G	A	G51215677A	CYP19A1	NM_000103.4(CYP19A1):c.858+26C>T	noncoding	Benign
15	51215923	A	C	A51215923C	CYP19A1	NM_000103.4(CYP19A1):c.744-106T>G	noncoding	Benign
15	51218505	T	A	T51218505A	CYP19A1	NM_000103.4(CYP19A1):c.743+36A>T	noncoding	Benign
15	51218568	C	T	C51218568T	CYP19A1	NM_000103.4(CYP19A1):c.716G>A:p.Trp239Ter	coding	Pathogenic
15	51218671	A	C	A51218671C	CYP19A1	NM_000103.4(CYP19A1):c.629-16T>G	noncoding	Benign
15	51222374	C	A	C51222374A	CYP19A1	NM_000103.4(CYP19A1):c.603G>T:p.Thr201=	coding	Benign/Likely_benign
15	51222425	A	C	A51222425C	CYP19A1	NM_000103.4(CYP19A1):c.552T>G:p.Tyr184Ter	coding	Pathogenic
15	51227797	G	A	G51227797A	CYP19A1	NM_000103.4(CYP19A1):c.433C>T:p.Arg145Ter	coding	Pathogenic
15	51227887	G	A	G51227887A	CYP19A1	NM_000103.4(CYP19A1):c.343C>T:p.Arg115Ter	coding	Pathogenic
15	51228009	T	C	T51228009C	CYP19A1	NM_000103.4(CYP19A1):c.297-76A>G	noncoding	Benign
15	51236878	C	A	C51236878A	CYP19A1	NM_000103.4(CYP19A1):c.277G>T:p.Glu93Ter	coding	Pathogenic
15	51236899	G	A	G51236899A	CYP19A1	NM_000103.4(CYP19A1):c.256C>T:p.Arg86Ter	coding	Pathogenic
15	51236955	C	T	C51236955T	CYP19A1	NM_000103.4(CYP19A1):c.200G>A:p.Trp67Ter	coding	Pathogenic
15	51237036	A	G	A51237036G	CYP19A1	NM_000103.4(CYP19A1):c.146-27T>C	noncoding	Benign
15	51237068	T	C	T51237068C	CYP19A1	NM_000103.4(CYP19A1):c.146-59A>G	noncoding	Benign
15	51242838	G	A	G51242838A	CYP19A1	NM_000103.4(CYP19A1):c.75C>T:p.Thr25=	coding	Benign
15	51242995	G	T	G51242995T	CYP19A1	NM_000103.4(CYP19A1):c.-38-45C>A	noncoding	Benign
15	51243944	T	G	T51243944G	CYP19A1	NM_000103.4(CYP19A1):c.-38-994A>C	noncoding	Benign
15	51255741	C	G	C51255741G	CYP19A1	NM_000103.4(CYP19A1):c.-38-12791G>C	noncoding	Benign
15	51341320	A	G	A51341320G	GLDN	Single_allele	noncoding	Benign
15	51341432	G	A	G51341432A	GLDN	Single_allele	noncoding	Benign
15	51341864	C	T	C51341864T	GLDN	NM_181789.4(GLDN):c.180C>T:p.Arg60=	coding	Benign
15	51342058	T	G	T51342058G	GLDN	NM_181789.4(GLDN):c.363+11T>G	noncoding	Benign
15	51342107	G	T	G51342107T	GLDN	NM_181789.4(GLDN):c.363+60G>T	noncoding	Benign
15	51342115	G	T	G51342115T	GLDN	NM_181789.4(GLDN):c.363+68G>T	noncoding	Benign
15	51342146	C	A	C51342146A	GLDN	NM_181789.4(GLDN):c.363+99C>A	noncoding	Benign
15	51377428	A	C	A51377428C	GLDN	NM_181789.4(GLDN):c.364-21A>C	noncoding	Benign
15	51377507	T	C	T51377507C	GLDN	NM_181789.4(GLDN):c.415+7T>C	noncoding	Benign
15	51377544	G	A	G51377544A	GLDN	NM_181789.4(GLDN):c.415+44G>A	noncoding	Benign
15	51383304	C	T	C51383304T	GLDN	NM_181789.4(GLDN):c.416-132C>T	noncoding	Benign
15	51383428	C	T	C51383428T	GLDN	NM_181789.4(GLDN):c.416-8C>T	noncoding	Benign
15	51383823	T	G	T51383823G	GLDN	NM_181789.4(GLDN):c.472T>G:p.Leu158Val	coding	Benign
15	51384019	C	T	C51384019T	GLDN	NM_181789.4(GLDN):c.541+127C>T	noncoding	Benign
15	51384035	A	G	A51384035G	GLDN	NM_181789.4(GLDN):c.541+143A>G	noncoding	Benign
15	51395053	G	A	G51395053A	GLDN	NM_181789.4(GLDN):c.688+72G>A	noncoding	Benign
15	51395077	T	C	T51395077C	GLDN	NM_181789.4(GLDN):c.688+96T>C	noncoding	Benign
15	51397427	A	C	A51397427C	GLDN	NM_181789.4(GLDN):c.689-43A>C	noncoding	Benign
15	51397575	G	A	G51397575A	GLDN	NM_181789.4(GLDN):c.794G>A:p.Ser265Asn	coding	Benign
15	51400163	G	T	G51400163T	GLDN	NM_181789.4(GLDN):c.818-29G>T	noncoding	Benign
15	51404225	T	G	T51404225G	GLDN	NM_181789.4(GLDN):c.1179-52T>G	noncoding	Benign
15	51404592	G	C	G51404592C	GLDN	NM_181789.4(GLDN):c.1494G>C:p.Leu498Phe	coding	Pathogenic
15	51404659	G	A	G51404659A	GLDN	NM_181789.4(GLDN):c.1561G>A:p.Ala521Thr	coding	Benign
15	51448859	G	A	G51448859A	DMXL2	NM_001378457.1(DMXL2):c.*125C>T	noncoding	Benign
15	51449117	A	G	A51449117G	DMXL2	NM_001378457.1(DMXL2):c.9044T>C:p.Ile3015Thr	coding	Benign
15	51449382	C	T	C51449382T	DMXL2	NM_001378457.1(DMXL2):c.8968-189G>A	noncoding	Benign
15	51451521	T	C	T51451521C	DMXL2	NM_001378457.1(DMXL2):c.8749+124A>G	noncoding	Benign
15	51455409	T	G	T51455409G	DMXL2	NM_001378457.1(DMXL2):c.8527-181A>C	noncoding	Benign
15	51455943	A	C	A51455943C	DMXL2	NM_001378457.1(DMXL2):c.8526+123T>G	noncoding	Benign
15	51455949	T	C	T51455949C	DMXL2	NM_001378457.1(DMXL2):c.8526+117A>G	noncoding	Benign
15	51456367	A	G	A51456367G	DMXL2	NM_001378457.1(DMXL2):c.8340T>C:p.Leu2780=	coding	Benign
15	51456386	T	A	T51456386A	DMXL2	NM_001378457.1(DMXL2):c.8338-17A>T	noncoding	Benign
15	51456413	A	G	A51456413G	DMXL2	NM_001378457.1(DMXL2):c.8338-44T>C	noncoding	Benign
15	51457529	A	C	A51457529C	DMXL2	NM_001378457.1(DMXL2):c.8199-63T>G	noncoding	Benign
15	51457565	T	G	T51457565G	DMXL2	NM_001378457.1(DMXL2):c.8199-99A>C	noncoding	Benign
15	51458412	C	T	C51458412T	DMXL2	NM_001378457.1(DMXL2):c.8198+94G>A	noncoding	Benign
15	51458455	G	A	G51458455A	DMXL2	NM_001378457.1(DMXL2):c.8198+51C>T	noncoding	Benign
15	51458649	G	A	G51458649A	DMXL2	NM_001378457.1(DMXL2):c.8077-22C>T	noncoding	Benign
15	51465424	G	A	G51465424A	DMXL2	NM_001378457.1(DMXL2):c.7606+142C>T	noncoding	Benign
15	51471052	C	G	C51471052G	DMXL2	NM_001378457.1(DMXL2):c.7392+171G>C	noncoding	Benign
15	51474282	A	G	A51474282G	DMXL2	NM_001378457.1(DMXL2):c.7213+62T>C	noncoding	Benign
15	51474367	C	T	C51474367T	DMXL2	NM_001378457.1(DMXL2):c.7190G>A:p.Arg2397Gln	coding	Benign
15	51474612	C	T	C51474612T	DMXL2	NM_001378457.1(DMXL2):c.6965-20G>A	noncoding	Benign
15	51476598	G	A	G51476598A	DMXL2	NM_001378457.1(DMXL2):c.6955C>T:p.Gln2319Ter	coding	Pathogenic
15	51476657	C	T	C51476657T	DMXL2	NM_001378457.1(DMXL2):c.6896G>A:p.Arg2299His	coding	Benign
15	51479768	C	T	C51479768T	DMXL2	NM_001378457.1(DMXL2):c.6756+180G>A	noncoding	Benign
15	51480150	T	C	T51480150C	DMXL2	NM_001378457.1(DMXL2):c.6565-11A>G	noncoding	Benign
15	51480676	G	A	G51480676A	DMXL2	NM_001378457.1(DMXL2):c.6430C>T:p.Arg2144Ter	coding	Pathogenic
15	51480698	G	T	G51480698T	DMXL2	NM_001378457.1(DMXL2):c.6408C>A:p.Ala2136=	coding	Benign
15	51481337	C	T	C51481337T	DMXL2	NM_001378457.1(DMXL2):c.5769G>A:p.Gln1923=	coding	Benign
15	51488130	A	G	A51488130G	DMXL2	NM_001378457.1(DMXL2):c.5052-11T>C	noncoding	Benign
15	51488525	C	T	C51488525T	DMXL2	NM_001378457.1(DMXL2):c.5051+23G>A	noncoding	Benign
15	51491623	T	C	T51491623C	DMXL2	NM_001378457.1(DMXL2):c.4908A>G:p.Gly1636=	coding	Benign
15	51491784	G	C	G51491784C	DMXL2	NM_001378457.1(DMXL2):c.4784-37C>G	noncoding	Benign
15	51495382	A	G	A51495382G	DMXL2	NM_001378457.1(DMXL2):c.4673-248T>C	noncoding	Benign
15	51499362	A	G	A51499362G	DMXL2	NM_001378457.1(DMXL2):c.3862T>C:p.Ser1288Pro	coding	Benign
15	51499365	T	C	T51499365C	DMXL2	NM_001378457.1(DMXL2):c.3859A>G:p.Ser1287Gly	coding	Benign
15	51499657	C	T	C51499657T	DMXL2	NM_001378457.1(DMXL2):c.3567G>A:p.Ala1189=	coding	Benign
15	51502975	G	A	G51502975A	DMXL2	NM_001378457.1(DMXL2):c.2823C>T:p.Asn941=	coding	Benign
15	51535978	G	C	G51535978C	DMXL2	NM_001378457.1(DMXL2):c.2314+188C>G	noncoding	Benign
15	51536371	C	T	C51536371T	DMXL2	NM_001378457.1(DMXL2):c.2109G>A:p.Ser703=	coding	Benign
15	51537476	A	C	A51537476C	DMXL2	NM_001378457.1(DMXL2):c.1617+12T>G	noncoding	Benign
15	51537615	G	A	G51537615A	DMXL2	NM_001378457.1(DMXL2):c.1490C>T:p.Thr497Met	coding	Benign
15	51537798	T	C	T51537798C	DMXL2	NM_001378457.1(DMXL2):c.1346-39A>G	noncoding	Benign
15	51542321	T	G	T51542321G	DMXL2	NM_001378457.1(DMXL2):c.1105+12A>C	noncoding	Benign
15	51545595	C	A	C51545595A	DMXL2	NM_001378457.1(DMXL2):c.918G>T:p.Gln306His	coding	Pathogenic
15	51545964	C	T	C51545964T	DMXL2	NM_001378457.1(DMXL2):c.747-198G>A	noncoding	Benign
15	51547421	T	C	T51547421C	DMXL2	NM_001378457.1(DMXL2):c.568-13A>G	noncoding	Benign
15	51565023	C	T	C51565023T	DMXL2	NM_001378457.1(DMXL2):c.364+65G>A	noncoding	Benign
15	51576092	T	C	T51576092C	DMXL2	NM_001378457.1(DMXL2):c.177A>G:p.Gln59=	coding	Benign
15	51576176	A	G	A51576176G	DMXL2	NM_001378457.1(DMXL2):c.93T>C:p.Tyr31=	coding	Benign
15	51622465	G	A	G51622465A	DMXL2	NM_001378457.1(DMXL2):c.81C>T:p.Pro27=	coding	Benign
15	51622519	T	C	T51622519C	DMXL2	NM_001378457.1(DMXL2):c.27A>G:p.Gly9=	coding	Benign
15	51622523	G	C	G51622523C	DMXL2	NM_001378457.1(DMXL2):c.23C>G:p.Thr8Ser	coding	Benign/Likely_benign
15	51622581	T	G	T51622581G	DMXL2	NM_001378457.1(DMXL2):c.-36A>C	noncoding	Benign
15	51622937	C	T	C51622937T	DMXL2	Single_allele	noncoding	Benign
15	51622992	C	T	C51622992T	DMXL2	Single_allele	noncoding	Benign
15	52112665	A	C	A52112665C	BCL2L10	NM_020396.4(BCL2L10):c.62T>G:p.Leu21Arg	coding	Benign
15	52122834	A	C	A52122834C	GNB5	NM_016194.4(GNB5):c.1177-66T>G	noncoding	Benign
15	52122911	T	C	T52122911C	GNB5	NM_016194.4(GNB5):c.1177-143A>G	noncoding	Benign
15	52123061	C	A	C52123061A	GNB5	NM_016194.4(GNB5):c.1177-293G>T	noncoding	Benign
15	52123079	C	T	C52123079T	GNB5	NM_016194.4(GNB5):c.1177-311G>A	noncoding	Benign
15	52124394	C	G	C52124394G	GNB5	NM_016194.4(GNB5):c.1176+79G>C	noncoding	Benign
15	52124489	C	G	C52124489G	GNB5	NM_016194.4(GNB5):c.1160G>C:p.Trp387Ser	coding	Pathogenic
15	52124739	C	T	C52124739T	GNB5	NM_016194.4(GNB5):c.1010-100G>A	noncoding	Benign
15	52125730	C	T	C52125730T	GNB5	NM_016194.4(GNB5):c.1009+218G>A	noncoding	Benign
15	52125843	A	G	A52125843G	GNB5	NM_016194.4(GNB5):c.1009+105T>C	noncoding	Benign
15	52125856	T	C	T52125856C	GNB5	NM_016194.4(GNB5):c.1009+92A>G	noncoding	Benign
15	52125858	G	A	G52125858A	GNB5	NM_016194.4(GNB5):c.1009+90C>T	noncoding	Benign
15	52126021	T	C	T52126021C	GNB5	NM_016194.4(GNB5):c.936A>G:p.Ala312=	coding	Benign
15	52126339	G	T	G52126339T	GNB5	NM_016194.4(GNB5):c.913-295C>A	noncoding	Benign
15	52128294	G	T	G52128294T	GNB5	NM_016194.4(GNB5):c.864-50C>A	noncoding	Benign
15	52133542	T	C	T52133542C	GNB5	NM_016194.4(GNB5):c.772-73A>G	noncoding	Benign
15	52133763	G	A	G52133763A	GNB5	NM_016194.4(GNB5):c.772-294C>T	noncoding	Benign
15	52141052	C	T	C52141052T	GNB5	NM_016194.4(GNB5):c.627+88G>A	noncoding	Benign
15	52141200	C	T	C52141200T	GNB5	NM_016194.4(GNB5):c.567G>A:p.Lys189=	coding	Benign
15	52141502	G	A	G52141502A	GNB5	NM_016194.4(GNB5):c.495-230C>T	noncoding	Benign
15	52149604	T	A	T52149604A	GNB5	NM_016194.4(GNB5):c.417+280A>T	noncoding	Benign
15	52153875	C	T	C52153875T	GNB5	NM_016194.4(GNB5):c.375+65G>A	noncoding	Benign
15	52154078	T	G	T52154078G	GNB5	NM_016194.4(GNB5):c.239-2A>C	noncoding	Pathogenic
15	52154103	C	T	C52154103T	GNB5	NM_016194.4(GNB5):c.239-27G>A	noncoding	Benign
15	52154377	A	C	A52154377C	GNB5	NM_016194.4(GNB5):c.239-301T>G	noncoding	Benign
15	52179499	A	G	A52179499G	GNB5	NM_016194.4(GNB5):c.238+269T>C	noncoding	Benign
15	52179923	T	C	T52179923C	GNB5	NM_016194.4(GNB5):c.127-44A>G	coding	Benign
15	52180076	G	C	G52180076C	GNB5	NM_016194.4(GNB5):c.127-197C>G	coding	Benign
15	52184283	C	A	C52184283A	GNB5	NM_016194.4(GNB5):c.126+268G>T	noncoding	Benign
15	52184964	T	C	T52184964C	GNB5	NM_016194.4(GNB5):c.-18-270A>G	noncoding	Benign
15	52185013	C	T	C52185013T	GNB5	NM_016194.4(GNB5):c.-18-319G>A	noncoding	Benign
15	52191368	A	G	A52191368G	GNB5	NM_016194.4(GNB5):c.-65T>C	noncoding	Benign
15	52313664	A	G	A52313664G	MYO5A	NM_001382347.1(MYO5A):c.*32T>C	noncoding	Benign
15	52313863	A	G	A52313863G	MYO5A	NM_001382347.1(MYO5A):c.5491-15T>C	noncoding	Benign
15	52317032	G	A	G52317032A	MYO5A	NM_001382347.1(MYO5A):c.5409+16C>T	noncoding	Benign/Likely_benign
15	52319048	G	A	G52319048A	MYO5A	NM_001382347.1(MYO5A):c.5234+12C>T	noncoding	Benign
15	52319360	T	C	T52319360C	MYO5A	NM_001382347.1(MYO5A):c.4952-18A>G	noncoding	Benign
15	52321305	C	T	C52321305T	MYO5A	NM_001382347.1(MYO5A):c.4951+54G>A	noncoding	Benign
15	52323094	A	G	A52323094G	MYO5A	NM_001382347.1(MYO5A):c.4800+261T>C	noncoding	Benign
15	52323515	T	C	T52323515C	MYO5A	NM_001382347.1(MYO5A):c.4711-71A>G	noncoding	Benign
15	52330585	T	G	T52330585G	MYO5A	NM_001382347.1(MYO5A):c.4409-86A>C	noncoding	Benign
15	52336292	T	C	T52336292C	MYO5A	NM_001382347.1(MYO5A):c.4408+171A>G	noncoding	Benign
15	52340018	C	T	C52340018T	MYO5A	NM_001382347.1(MYO5A):c.4239+178G>A	noncoding	Benign
15	52340176	G	A	G52340176A	MYO5A	NM_001382347.1(MYO5A):c.4239+20C>T	noncoding	Benign/Likely_benign
15	52340451	C	A	C52340451A	MYO5A	NM_001382347.1(MYO5A):c.4041-57G>T	noncoding	Benign
15	52342826	C	G	C52342826G	MYO5A	NM_001382347.1(MYO5A):c.4040+291G>C	noncoding	Benign
15	52342862	G	A	G52342862A	MYO5A	NM_001382347.1(MYO5A):c.4040+255C>T	noncoding	Benign
15	52343260	G	A	G52343260A	MYO5A	NM_001382347.1(MYO5A):c.3960-63C>T	noncoding	Benign
15	52346232	T	A	T52346232A	MYO5A	NM_001382347.1(MYO5A):c.3959+129A>T	noncoding	Benign
15	52346775	A	T	A52346775T	MYO5A	NM_001382347.1(MYO5A):c.3859-314T>A	noncoding	Benign
15	52350969	T	C	T52350969C	MYO5A	NM_001382347.1(MYO5A):c.3849+285A>G	noncoding	Benign
15	52351033	A	T	A52351033T	MYO5A	NM_001382347.1(MYO5A):c.3849+221T>A	noncoding	Benign
15	52351121	A	T	A52351121T	MYO5A	NM_001382347.1(MYO5A):c.3849+133T>A	noncoding	Benign
15	52353549	A	G	A52353549G	MYO5A	NM_001382347.1(MYO5A):c.3621+56T>C	noncoding	Benign
15	52354261	A	G	A52354261G	MYO5A	NM_001382347.1(MYO5A):c.3424-247T>C	noncoding	Benign
15	52354319	C	T	C52354319T	MYO5A	NM_001382347.1(MYO5A):c.3424-305G>A	noncoding	Benign
15	52354329	G	A	G52354329A	MYO5A	NM_001382347.1(MYO5A):c.3424-315C>T	noncoding	Benign
15	52364329	G	A	G52364329A	MYO5A	NM_001382347.1(MYO5A):c.3309+225C>T	noncoding	Benign
15	52364536	C	A	C52364536A	MYO5A	NM_001382347.1(MYO5A):c.3309+18G>T	noncoding	Benign
15	52364993	C	T	C52364993T	MYO5A	NM_001382347.1(MYO5A):c.3161-291G>A	noncoding	Benign
15	52369892	T	A	T52369892A	MYO5A	NM_001382347.1(MYO5A):c.3066+277A>T	noncoding	Benign
15	52370473	T	C	T52370473C	MYO5A	NM_001382347.1(MYO5A):c.2818-56A>G	noncoding	Benign
15	52370725	G	C	G52370725C	MYO5A	NM_001382347.1(MYO5A):c.2818-308C>G	noncoding	Benign
15	52372492	T	C	T52372492C	MYO5A	NM_001382347.1(MYO5A):c.2578-129A>G	noncoding	Benign
15	52375001	T	G	T52375001G	MYO5A	NM_001382347.1(MYO5A):c.2577+303A>C	noncoding	Benign
15	52375009	A	G	A52375009G	MYO5A	NM_001382347.1(MYO5A):c.2577+295T>C	noncoding	Benign
15	52375042	A	G	A52375042G	MYO5A	NM_001382347.1(MYO5A):c.2577+262T>C	noncoding	Benign
15	52375253	T	C	T52375253C	MYO5A	NM_001382347.1(MYO5A):c.2577+51A>G	noncoding	Benign
15	52375355	G	A	G52375355A	MYO5A	NM_001382347.1(MYO5A):c.2526C>T:p.Ile842=	coding	Benign
15	52375538	T	C	T52375538C	MYO5A	NM_001382347.1(MYO5A):c.2421-78A>G	noncoding	Benign
15	52376625	G	A	G52376625A	MYO5A	NM_001382347.1(MYO5A):c.2209-67C>T	noncoding	Benign
15	52379587	C	T	C52379587T	MYO5A	NM_001382347.1(MYO5A):c.2208+38G>A	noncoding	Benign
15	52379723	G	A	G52379723A	MYO5A	NM_001382347.1(MYO5A):c.2110C>T:p.Gln704Ter	coding	Pathogenic
15	52380087	T	C	T52380087C	MYO5A	NM_001382347.1(MYO5A):c.2013-179A>G	noncoding	Benign
15	52383064	T	C	T52383064C	MYO5A	NM_001382347.1(MYO5A):c.2012+27A>G	noncoding	Benign
15	52384010	G	A	G52384010A	MYO5A	NM_001382347.1(MYO5A):c.1914+151C>T	noncoding	Benign
15	52384515	C	T	C52384515T	MYO5A	NM_001382347.1(MYO5A):c.1753-193G>A	noncoding	Benign
15	52387550	G	A	G52387550A	MYO5A	NM_001382347.1(MYO5A):c.1752+279C>T	noncoding	Benign
15	52388079	G	C	G52388079C	MYO5A	NM_001382347.1(MYO5A):c.1669-167C>G	noncoding	Benign
15	52389180	T	C	T52389180C	MYO5A	NM_001382347.1(MYO5A):c.1668+58A>G	noncoding	Benign
15	52389377	A	G	A52389377G	MYO5A	NM_001382347.1(MYO5A):c.1543-14T>C	noncoding	Benign
15	52391807	C	A	C52391807A	MYO5A	NM_001382347.1(MYO5A):c.1542+123G>T	noncoding	Benign
15	52397434	T	G	T52397434G	MYO5A	NM_001382347.1(MYO5A):c.1086A>C:p.Glu362Asp	coding	Benign
15	52397575	T	C	T52397575C	MYO5A	NM_001382347.1(MYO5A):c.1054-109A>G	noncoding	Benign
15	52404998	G	A	G52404998A	MYO5A	NM_001382347.1(MYO5A):c.1053+289C>T	noncoding	Benign
15	52405409	G	A	G52405409A	MYO5A	NM_001382347.1(MYO5A):c.947-16C>T	noncoding	Benign/Likely_benign
15	52405515	T	C	T52405515C	MYO5A	NM_001382347.1(MYO5A):c.947-122A>G	noncoding	Benign
15	52405618	T	C	T52405618C	MYO5A	NM_001382347.1(MYO5A):c.947-225A>G	noncoding	Benign
15	52407663	C	T	C52407663T	MYO5A	NM_001382347.1(MYO5A):c.839-264G>A	noncoding	Benign
15	52408353	T	C	T52408353C	MYO5A	NM_001382347.1(MYO5A):c.757-213A>G	noncoding	Benign
15	52408418	A	G	A52408418G	MYO5A	NM_001382347.1(MYO5A):c.757-278T>C	noncoding	Benign
15	52410203	G	A	G52410203A	MYO5A	NM_001382347.1(MYO5A):c.756+130C>T	noncoding	Benign
15	52410502	T	C	T52410502C	MYO5A	NM_001382347.1(MYO5A):c.613-26A>G	noncoding	Benign
15	52415992	C	T	C52415992T	MYO5A	NM_001382347.1(MYO5A):c.612+153G>A	noncoding	Benign
15	52416294	G	A	G52416294A	MYO5A	NM_001382347.1(MYO5A):c.463C>T:p.Arg155Ter	coding	Pathogenic
15	52416337	T	G	T52416337G	MYO5A	NM_001382347.1(MYO5A):c.456-36A>C	noncoding	Benign
15	52426138	C	T	C52426138T	MYO5A	NM_001382347.1(MYO5A):c.311-164G>A	noncoding	Benign
15	52428711	G	T	G52428711T	MYO5A	NM_001382347.1(MYO5A):c.139-142C>A	noncoding	Benign
15	52433137	C	T	C52433137T	MYO5A	NM_001382347.1(MYO5A):c.138+38G>A	noncoding	Benign
15	52433390	A	C	A52433390C	MYO5A	NM_001382347.1(MYO5A):c.28-105T>G	noncoding	Benign
15	52528589	C	G	C52528589G	MYO5A	NM_001382347.1(MYO5A):c.27+191G>C	noncoding	Benign
15	52528707	C	T	C52528707T	MYO5A	NM_001382347.1(MYO5A):c.27+73G>A	noncoding	Benign
15	52529317	A	G	A52529317G	MYO5A	Single_allele	noncoding	Benign
15	53523555	G	A	G53523555A	WDR72	NM_182758.4(WDR72):c.3149-233C>T	noncoding	Benign
15	53613532	T	C	T53613532C	WDR72	NM_182758.4(WDR72):c.2872+134A>G	noncoding	Benign
15	53613582	C	T	C53613582T	WDR72	NM_182758.4(WDR72):c.2872+84G>A	noncoding	Benign
15	53665342	T	G	T53665342G	WDR72	NM_182758.4(WDR72):c.1962+230A>C	noncoding	Benign
15	53701929	G	A	G53701929A	WDR72	NM_182758.4(WDR72):c.1569+205C>T	noncoding	Benign
15	53704892	C	A	C53704892A	WDR72	NM_182758.4(WDR72):c.1348+96G>T	noncoding	Benign
15	53706117	G	T	G53706117T	WDR72	NM_182758.4(WDR72):c.955-43C>A	noncoding	Benign
15	53710712	T	C	T53710712C	WDR72	NM_182758.4(WDR72):c.954+145A>G	noncoding	Benign
15	53710742	T	C	T53710742C	WDR72	NM_182758.4(WDR72):c.954+115A>G	noncoding	Benign
15	53712600	A	C	A53712600C	WDR72	NM_182758.4(WDR72):c.711+172T>G	noncoding	Benign
15	53713047	T	A	T53713047A	WDR72	NM_182758.4(WDR72):c.592-156A>T	noncoding	Benign
15	53714921	T	G	T53714921G	WDR72	NM_182758.4(WDR72):c.514+272A>C	noncoding	Benign
15	53716957	C	T	C53716957T	WDR72	NM_182758.4(WDR72):c.261-272G>A	noncoding	Benign
15	53732816	A	G	A53732816G	WDR72	NM_182758.4(WDR72):c.153+181T>C	noncoding	Benign
15	55205575	G	A	G55205575A	RAB27A	NM_183235.3(RAB27A):c.598C>T:p.Arg200Ter	coding	Pathogenic
15	55223884	C	T	C55223884T	RAB27A	NM_183235.3(RAB27A):c.467+5G>A	noncoding	Pathogenic
15	55223888	C	G	C55223888G	RAB27A	NM_183235.3(RAB27A):c.467+1G>C	noncoding	Pathogenic/Likely_pathogenic
15	55223896	T	A	T55223896A	RAB27A	NM_183235.3(RAB27A):c.460A>T:p.Lys154Ter	coding	Pathogenic
15	55223917	C	A	C55223917A	RAB27A	NM_183235.3(RAB27A):c.439G>T:p.Glu147Ter	coding	Pathogenic
15	55223956	T	C	T55223956C	RAB27A	NM_183235.3(RAB27A):c.400A>G:p.Lys134Glu	coding	Pathogenic
15	55223957	G	A	G55223957A	RAB27A	NM_183235.3(RAB27A):c.399C>T:p.Asn133=	coding	Benign
15	55224195	A	G	A55224195G	RAB27A	NM_183235.3(RAB27A):c.344-183T>C	noncoding	Benign
15	55224288	C	T	C55224288T	RAB27A	NM_183235.3(RAB27A):c.344-276G>A	noncoding	Benign
15	55228316	C	T	C55228316T	RAB27A	NM_183235.3(RAB27A):c.343+293G>A	noncoding	Benign
15	55230400	C	A	C55230400A	RAB27A	NM_183235.3(RAB27A):c.239+1G>T	noncoding	Pathogenic
15	55230731	A	C	A55230731C	RAB27A	NM_183235.3(RAB27A):c.154-245T>G	noncoding	Benign
15	55234688	C	T	C55234688T	RAB27A	NM_183235.3(RAB27A):c.153+94G>A	noncoding	Benign
15	55234798	A	C	A55234798C	RAB27A	NM_183235.3(RAB27A):c.137T>G:p.Phe46Cys	coding	Pathogenic
15	55319235	A	G	A55319235G	PIGB	NM_004855.5(PIGB):c.-16A>G	noncoding	Benign
15	55319405	G	A	G55319405A	PIGB	NM_004855.5(PIGB):c.155G>A:p.Arg52His	coding	Benign
15	55327527	G	A	G55327527A	PIGB	NM_004855.5(PIGB):c.418-4G>A	noncoding	Benign/Likely_benign
15	55327566	T	C	T55327566C	PIGB	NM_004855.5(PIGB):c.453T>C:p.Ser151=	coding	Benign
15	55327598	T	C	T55327598C	PIGB	NM_004855.5(PIGB):c.485T>C:p.Met162Thr	coding	Benign
15	55329691	T	C	T55329691C	PIGB	NM_004855.5(PIGB):c.523-33T>C	noncoding	Benign
15	55340661	G	T	G55340661T	PIGB	NM_004855.5(PIGB):c.896G>T:p.Trp299Leu	coding	Benign
15	55340736	T	C	T55340736C	PIGB	NM_004855.5(PIGB):c.971T>C:p.Leu324Ser	coding	Benign
15	55340746	T	G	T55340746G	PIGB	NM_004855.5(PIGB):c.981T>G:p.Phe327Leu	coding	Benign
15	55341805	A	G	A55341805G	PIGB	NM_004855.5(PIGB):c.1123+3A>G	noncoding	Benign
15	55354787	T	C	T55354787C	PIGB	NM_004855.5(PIGB):c.1338-11T>C	noncoding	Benign
15	55354964	A	G	A55354964G	PIGB	NM_004855.5(PIGB):c.1504A>G:p.Ser502Gly	coding	Benign
15	55355294	C	T	C55355294T	PIGB	NM_004855.5(PIGB):c.1527C>T:p.Ser509=	coding	Benign
15	55430791	T	C	T55430791C	DNAAF4	NM_130810.4(DNAAF4):c.1154-12A>G	noncoding	Benign
15	55432496	C	T	C55432496T	DNAAF4	NM_130810.4(DNAAF4):c.1153+1G>A	noncoding	Pathogenic
15	55432655	C	T	C55432655T	DNAAF4	NM_130810.4(DNAAF4):c.1048-53G>A	noncoding	Benign
15	55434818	T	G	T55434818G	DNAAF4	NM_130810.4(DNAAF4):c.1047+87A>C	noncoding	Benign
15	55434875	G	A	G55434875A	DNAAF4	NM_130810.4(DNAAF4):c.1047+30C>T	noncoding	Benign
15	55439753	A	G	A55439753G	DNAAF4	NM_130810.4(DNAAF4):c.784-172T>C	noncoding	Benign
15	55450272	G	A	G55450272A	DNAAF4	NM_130810.4(DNAAF4):c.733C>T:p.Arg245Ter	coding	Pathogenic/Likely_pathogenic
15	55450528	A	G	A55450528G	DNAAF4	NM_130810.4(DNAAF4):c.638-161T>C	noncoding	Benign
15	55466660	C	T	C55466660T	DNAAF4	NM_130810.4(DNAAF4):c.637+270G>A	noncoding	Benign
15	55467285	T	C	T55467285C	DNAAF4	NM_130810.4(DNAAF4):c.406-124A>G	noncoding	Benign
15	55467490	G	A	G55467490A	DNAAF4	NM_130810.4(DNAAF4):c.406-329C>T	noncoding	Benign
15	55490972	C	A	C55490972A	DNAAF4	NM_130810.4(DNAAF4):c.405+151G>T	noncoding	Benign
15	55490975	A	G	A55490975G	DNAAF4	NM_130810.4(DNAAF4):c.405+148T>C	noncoding	Benign
15	55490996	T	A	T55490996A	DNAAF4	NM_130810.4(DNAAF4):c.405+127A>T	noncoding	Benign
15	55491271	A	G	A55491271G	DNAAF4	NM_130810.4(DNAAF4):c.272-15T>C	noncoding	Benign
15	55498085	T	C	T55498085C	DNAAF4	NM_130810.4(DNAAF4):c.123+122A>G	noncoding	Benign
15	55498100	A	G	A55498100G	DNAAF4	NM_130810.4(DNAAF4):c.123+107T>C	noncoding	Benign
15	55498112	G	T	G55498112T	DNAAF4	NM_130810.4(DNAAF4):c.123+95C>A	noncoding	Benign
15	55498154	A	G	A55498154G	DNAAF4	NM_130810.4(DNAAF4):c.123+53T>C	noncoding	Benign
15	55498320	G	A	G55498320A	DNAAF4	NM_130810.4(DNAAF4):c.10C>T:p.Gln4Ter	coding	Pathogenic
15	55498342	G	A	G55498342A	DNAAF4	NM_130810.4(DNAAF4):c.-13C>T	noncoding	Benign
15	55498458	T	A	T55498458A	DNAAF4	NM_130810.4(DNAAF4):c.-129A>T	noncoding	Benign
15	55498458	T	G	T55498458G	DNAAF4	NM_130810.4(DNAAF4):c.-129A>C	noncoding	Benign
15	55498493	G	A	G55498493A	DNAAF4	NM_130810.4(DNAAF4):c.-164C>T	noncoding	Benign
15	55498637	A	G	A55498637G	DNAAF4	NM_130810.4(DNAAF4):c.-255-53T>C	noncoding	Benign
15	55508896	A	G	A55508896G	DNAAF4	NC_000015.9:g.55801094A>G	noncoding	Benign
15	55916735	T	C	T55916735C	NEDD4	NM_006154.4(NEDD4):c.291+7911A>G	coding	Benign
15	56094645	G	A	G56094645A	RFX7	NM_022841.7(RFX7):c.3083C>T:p.Pro1028Leu	coding	Pathogenic
15	56094944	G	A	G56094944A	RFX7	NM_022841.7(RFX7):c.2784C>T:p.His928=	coding	Benign
15	56142758	A	G	A56142758G	RFX7	NM_022841.7(RFX7):c.401+20T>C	noncoding	Benign
15	56179251	T	G	T56179251G	RFX7	NM_022841.7(RFX7):c.195+19A>C	noncoding	Benign
15	56429208	C	T	C56429208T	MNS1	NM_018365.4(MNS1):c.1396-15G>A	noncoding	Benign
15	56464087	T	G	T56464087G	MNS1	NM_018365.4(MNS1):c.164A>C:p.Gln55Pro	coding	Benign
15	56920821	A	G	A56920821G	TCF12	NM_207037.2(TCF12):c.76-205A>G	noncoding	Benign
15	56921373	G	A	G56921373A	TCF12	NM_207037.2(TCF12):c.148+275G>A	noncoding	Benign
15	57064054	C	T	C57064054T	TCF12	NM_207037.2(TCF12):c.222+231C>T	noncoding	Benign
15	57166586	C	T	C57166586T	TCF12	NM_207037.2(TCF12):c.390+120C>T	noncoding	Benign
15	57166703	A	G	A57166703G	TCF12	NM_207037.2(TCF12):c.390+237A>G	noncoding	Benign
15	57166734	A	G	A57166734G	TCF12	NM_207037.2(TCF12):c.390+268A>G	noncoding	Benign
15	57192118	C	T	C57192118T	TCF12	NM_207037.2(TCF12):c.391-40C>T	noncoding	Benign
15	57197545	C	T	C57197545T	TCF12	NM_207037.2(TCF12):c.527-228C>T	noncoding	Benign
15	57197754	T	G	T57197754G	TCF12	NM_207037.2(TCF12):c.527-19T>G	noncoding	Benign
15	57198047	T	A	T57198047A	TCF12	NM_207037.2(TCF12):c.579+222T>A	noncoding	Benign
15	57198092	A	G	A57198092G	TCF12	NM_207037.2(TCF12):c.579+267A>G	noncoding	Benign
15	57219766	C	T	C57219766T	TCF12	NM_207037.2(TCF12):c.580-11386C>T	noncoding	Benign
15	57231140	T	C	T57231140C	TCF12	NM_207037.2(TCF12):c.580-12T>C	noncoding	Benign/Likely_benign
15	57231344	A	G	A57231344G	TCF12	NM_207037.2(TCF12):c.685+87A>G	noncoding	Benign
15	57231555	A	G	A57231555G	TCF12	NM_207037.2(TCF12):c.685+298A>G	noncoding	Benign
15	57232082	T	C	T57232082C	TCF12	NM_207037.2(TCF12):c.686-209T>C	noncoding	Benign
15	57232417	C	A	C57232417A	TCF12	NM_207037.2(TCF12):c.812C>A:p.Ser271Ter	coding	Pathogenic/Likely_pathogenic
15	57232431	G	A	G57232431A	TCF12	NM_207037.2(TCF12):c.825+1G>A	coding	Pathogenic
15	57232544	T	G	T57232544G	TCF12	NM_207037.2(TCF12):c.825+114T>G	noncoding	Benign
15	57232558	G	A	G57232558A	TCF12	NM_207037.2(TCF12):c.825+128G>A	noncoding	Benign
15	57232659	T	C	T57232659C	TCF12	NM_207037.2(TCF12):c.826-53T>C	noncoding	Benign
15	57232710	A	G	A57232710G	TCF12	NM_207037.2(TCF12):c.826-2A>G	noncoding	Pathogenic
15	57234070	C	G	C57234070G	TCF12	NM_207037.2(TCF12):c.998C>G:p.Ser333Ter	coding	Pathogenic
15	57234385	T	C	T57234385C	TCF12	NM_207037.2(TCF12):c.1035+278T>C	noncoding	Benign
15	57243267	C	T	C57243267T	TCF12	NM_207037.2(TCF12):c.1036-205C>T	noncoding	Benign
15	57251362	G	A	G57251362A	TCF12	NM_207037.2(TCF12):c.1127G>A:p.Trp376Ter	coding	Pathogenic
15	57251363	G	A	G57251363A	TCF12	NM_207037.2(TCF12):c.1128G>A:p.Trp376Ter	coding	Pathogenic
15	57252295	T	C	T57252295C	TCF12	NM_207037.2(TCF12):c.1189-126T>C	noncoding	Benign
15	57253094	A	G	A57253094G	TCF12	NM_207037.2(TCF12):c.1261-168A>G	noncoding	Benign
15	57253259	C	G	C57253259G	TCF12	NM_207037.2(TCF12):c.1261-3C>G	noncoding	Pathogenic
15	57261773	C	T	C57261773T	TCF12	NM_207037.2(TCF12):c.1468-321C>T	noncoding	Benign
15	57261792	T	G	T57261792G	TCF12	NM_207037.2(TCF12):c.1468-302T>G	noncoding	Benign
15	57263325	C	A	C57263325A	TCF12	NM_207037.2(TCF12):c.1745+51C>A	noncoding	Benign
15	57273582	C	A	C57273582A	TCF12	NM_207037.2(TCF12):c.1978+320C>A	noncoding	Benign
15	57707106	G	C	G57707106C	POLR2M	NM_015532.5(POLR2M):c.113+151G>C	noncoding	Benign
15	57707277	C	G	C57707277G	POLR2M	NM_015532.5(POLR2M):c.113+322C>G	noncoding	Benign
15	57708783	C	T	C57708783T	POLR2M	NM_015532.5(POLR2M):c.183C>T:p.Ala61=	coding	Benign
15	57712225	G	A	G57712225A	POLR2M	NM_015532.5(POLR2M):c.963+37G>A	noncoding	Benign
15	59137272	T	G	T59137272G	MYO1E	NM_004998.4(MYO1E):c.*108A>C	noncoding	Benign
15	59137366	G	C	G59137366C	MYO1E	NM_004998.4(MYO1E):c.*14C>G	noncoding	Benign/Likely_benign
15	59137464	G	C	G59137464C	MYO1E	NM_004998.4(MYO1E):c.3251-8C>G	noncoding	Benign
15	59137741	G	C	G59137741C	MYO1E	NM_004998.4(MYO1E):c.3251-285C>G	noncoding	Benign
15	59137959	G	A	G59137959A	MYO1E	NM_004998.4(MYO1E):c.3250+239C>T	noncoding	Benign
15	59138114	C	A	C59138114A	MYO1E	NM_004998.4(MYO1E):c.3250+84G>T	noncoding	Benign
15	59138302	G	T	G59138302T	MYO1E	NM_004998.4(MYO1E):c.3146C>A:p.Pro1049His	coding	Benign/Likely_benign
15	59153474	G	A	G59153474A	MYO1E	NM_004998.4(MYO1E):c.3080+116C>T	noncoding	Benign
15	59153560	G	A	G59153560A	MYO1E	NM_004998.4(MYO1E):c.3080+30C>T	noncoding	Benign
15	59153762	G	A	G59153762A	MYO1E	NM_004998.4(MYO1E):c.2908C>T:p.Gln970Ter	coding	Pathogenic
15	59160945	G	A	G59160945A	MYO1E	NM_004998.4(MYO1E):c.2785+128C>T	noncoding	Benign
15	59161037	C	T	C59161037T	MYO1E	NM_004998.4(MYO1E):c.2785+36G>A	noncoding	Benign
15	59161185	T	C	T59161185C	MYO1E	NM_004998.4(MYO1E):c.2673A>G:p.Ala891=	coding	Benign
15	59161379	G	A	G59161379A	MYO1E	NM_004998.4(MYO1E):c.2628-149C>T	noncoding	Benign
15	59161482	T	C	T59161482C	MYO1E	NM_004998.4(MYO1E):c.2628-252A>G	noncoding	Benign
15	59161485	G	C	G59161485C	MYO1E	NM_004998.4(MYO1E):c.2628-255C>G	noncoding	Benign
15	59163073	C	T	C59163073T	MYO1E	NM_004998.4(MYO1E):c.2627+84G>A	noncoding	Benign
15	59163149	G	A	G59163149A	MYO1E	NM_004998.4(MYO1E):c.2627+8C>T	noncoding	Benign
15	59163321	A	C	A59163321C	MYO1E	NM_004998.4(MYO1E):c.2481-18T>G	noncoding	Benign
15	59171633	C	T	C59171633T	MYO1E	NM_004998.4(MYO1E):c.2480+264G>A	noncoding	Benign
15	59171757	C	G	C59171757G	MYO1E	NM_004998.4(MYO1E):c.2480+140G>C	noncoding	Benign
15	59171758	A	G	A59171758G	MYO1E	NM_004998.4(MYO1E):c.2480+139T>C	noncoding	Benign
15	59171840	G	A	G59171840A	MYO1E	NM_004998.4(MYO1E):c.2480+57C>T	noncoding	Benign
15	59172055	G	A	G59172055A	MYO1E	NM_004998.4(MYO1E):c.2335-13C>T	noncoding	Benign
15	59174018	T	G	T59174018G	MYO1E	NM_004998.4(MYO1E):c.2165-103A>C	noncoding	Benign
15	59174290	C	A	C59174290A	MYO1E	NM_004998.4(MYO1E):c.2050-50G>T	noncoding	Benign
15	59174580	G	A	G59174580A	MYO1E	NM_004998.4(MYO1E):c.2050-340C>T	noncoding	Benign
15	59178131	C	T	C59178131T	MYO1E	NM_004998.4(MYO1E):c.2049+262G>A	noncoding	Benign
15	59178167	C	T	C59178167T	MYO1E	NM_004998.4(MYO1E):c.2049+226G>A	noncoding	Benign
15	59187942	G	A	G59187942A	MYO1E	NM_004998.4(MYO1E):c.1904+176C>T	noncoding	Benign
15	59188097	C	T	C59188097T	MYO1E	NM_004998.4(MYO1E):c.1904+21G>A	noncoding	Benign
15	59188271	G	T	G59188271T	MYO1E	NM_004998.4(MYO1E):c.1806-55C>A	noncoding	Benign
15	59195187	A	G	A59195187G	MYO1E	NM_004998.4(MYO1E):c.1805+274T>C	noncoding	Benign
15	59195523	G	A	G59195523A	MYO1E	NM_004998.4(MYO1E):c.1743C>T:p.Pro581=	coding	Benign
15	59195532	T	C	T59195532C	MYO1E	NM_004998.4(MYO1E):c.1734A>G:p.Lys578=	coding	Benign
15	59195731	C	G	C59195731G	MYO1E	NM_004998.4(MYO1E):c.1699-164G>C	noncoding	Benign
15	59202088	A	G	A59202088G	MYO1E	NM_004998.4(MYO1E):c.1698+238T>C	noncoding	Benign
15	59202419	G	C	G59202419C	MYO1E	NM_004998.4(MYO1E):c.1617-12C>G	noncoding	Benign/Likely_benign
15	59202474	C	T	C59202474T	MYO1E	NM_004998.4(MYO1E):c.1617-67G>A	noncoding	Benign
15	59202660	A	T	A59202660T	MYO1E	NM_004998.4(MYO1E):c.1617-253T>A	noncoding	Benign
15	59205383	T	C	T59205383C	MYO1E	NM_004998.4(MYO1E):c.1616+17A>G	noncoding	Benign
15	59205773	T	A	T59205773A	MYO1E	NM_004998.4(MYO1E):c.1531-288A>T	noncoding	Benign
15	59208643	T	C	T59208643C	MYO1E	NM_004998.4(MYO1E):c.1530+38A>G	noncoding	Benign
15	59208667	G	A	G59208667A	MYO1E	NM_004998.4(MYO1E):c.1530+14C>T	noncoding	Benign
15	59208771	C	T	C59208771T	MYO1E	NM_004998.4(MYO1E):c.1440G>A:p.Thr480=	coding	Benign/Likely_benign
15	59210298	C	A	C59210298A	MYO1E	NM_004998.4(MYO1E):c.1362+216G>T	noncoding	Benign
15	59210498	C	G	C59210498G	MYO1E	NM_004998.4(MYO1E):c.1362+16G>C	noncoding	Benign
15	59214423	T	G	T59214423G	MYO1E	NM_004998.4(MYO1E):c.1189-109A>C	noncoding	Benign
15	59214443	A	C	A59214443C	MYO1E	NM_004998.4(MYO1E):c.1189-129T>G	noncoding	Benign
15	59214478	C	T	C59214478T	MYO1E	NM_004998.4(MYO1E):c.1188+162G>A	noncoding	Benign
15	59214534	G	C	G59214534C	MYO1E	NM_004998.4(MYO1E):c.1188+106C>G	noncoding	Benign
15	59217990	G	A	G59217990A	MYO1E	NM_004998.4(MYO1E):c.1008C>T:p.Ser336=	coding	Benign
15	59218019	G	A	G59218019A	MYO1E	NM_004998.4(MYO1E):c.979C>T:p.Gln327Ter	coding	Pathogenic
15	59218020	C	T	C59218020T	MYO1E	NM_004998.4(MYO1E):c.978G>A:p.Arg326=	coding	Benign
15	59222905	C	G	C59222905G	MYO1E	NM_004998.4(MYO1E):c.910+154G>C	noncoding	Benign
15	59222947	A	C	A59222947C	MYO1E	NM_004998.4(MYO1E):c.910+112T>G	noncoding	Benign
15	59223065	C	T	C59223065T	MYO1E	NM_004998.4(MYO1E):c.904G>A:p.Glu302Lys	coding	Benign
15	59223235	C	T	C59223235T	MYO1E	NM_004998.4(MYO1E):c.778-44G>A	noncoding	Benign
15	59223247	C	G	C59223247G	MYO1E	NM_004998.4(MYO1E):c.778-56G>C	noncoding	Benign
15	59224676	C	T	C59224676T	MYO1E	NM_004998.4(MYO1E):c.777+13G>A	noncoding	Benign
15	59225037	T	C	T59225037C	MYO1E	NM_004998.4(MYO1E):c.643-214A>G	noncoding	Benign
15	59227547	T	C	T59227547C	MYO1E	NM_004998.4(MYO1E):c.554A>G:p.Asp185Gly	coding	Benign/Likely_benign
15	59227607	G	A	G59227607A	MYO1E	NM_004998.4(MYO1E):c.511-17C>T	noncoding	Benign
15	59227609	T	A	T59227609A	MYO1E	NM_004998.4(MYO1E):c.511-19A>T	noncoding	Benign
15	59227618	A	G	A59227618G	MYO1E	NM_004998.4(MYO1E):c.511-28T>C	noncoding	Benign
15	59231738	G	A	G59231738A	MYO1E	NM_004998.4(MYO1E):c.474C>T:p.Asn158=	coding	Benign
15	59231805	T	C	T59231805C	MYO1E	NM_004998.4(MYO1E):c.421-14A>G	noncoding	Benign
15	59231830	A	G	A59231830G	MYO1E	NM_004998.4(MYO1E):c.421-39T>C	noncoding	Benign
15	59231844	G	A	G59231844A	MYO1E	NM_004998.4(MYO1E):c.421-53C>T	noncoding	Benign
15	59231857	T	C	T59231857C	MYO1E	NM_004998.4(MYO1E):c.421-66A>G	noncoding	Benign
15	59231909	G	A	G59231909A	MYO1E	NM_004998.4(MYO1E):c.421-118C>T	noncoding	Benign
15	59256028	T	C	T59256028C	MYO1E	NM_004998.4(MYO1E):c.332+256A>G	noncoding	Benign
15	59256295	G	A	G59256295A	MYO1E	NM_004998.4(MYO1E):c.321C>T:p.Cys107=	coding	Benign
15	59256622	G	A	G59256622A	MYO1E	NM_004998.4(MYO1E):c.238-244C>T	noncoding	Benign
15	59261138	G	A	G59261138A	MYO1E	NM_004998.4(MYO1E):c.237+282C>T	noncoding	Benign
15	59261411	G	A	G59261411A	MYO1E	NM_004998.4(MYO1E):c.237+9C>T	noncoding	Benign
15	59272103	G	C	G59272103C	MYO1E	NM_004998.4(MYO1E):c.147+203C>G	noncoding	Benign
15	59272292	C	A	C59272292A	MYO1E	NM_004998.4(MYO1E):c.147+14G>T	noncoding	Benign
15	59372217	A	C	A59372217C	MYO1E	NM_004998.4(MYO1E):c.3+281T>G	noncoding	Benign
15	59372280	A	G	A59372280G	MYO1E	NM_004998.4(MYO1E):c.3+218T>C	noncoding	Benign
15	59372281	C	G	C59372281G	MYO1E	NM_004998.4(MYO1E):c.3+217G>C	noncoding	Benign
15	59372298	T	C	T59372298C	MYO1E	NM_004998.4(MYO1E):c.3+200A>G	noncoding	Benign
15	59372408	C	A	C59372408A	MYO1E	NM_004998.4(MYO1E):c.3+90G>T	noncoding	Benign
15	59372764	G	C	G59372764C	MYO1E	NM_004998.4(MYO1E):c.-264C>G	noncoding	Benign
15	59372946	C	A	C59372946A	MYO1E	Single_allele	noncoding	Benign
15	59373109	C	G	C59373109G	MYO1E	Single_allele	noncoding	Benign
15	60361006	C	A	C60361006A	ANXA2	NM_004039.3(ANXA2):c.292G>T:p.Val98Leu	coding	Benign
15	60442498	A	G	A60442498G	ICE2	NM_024611.6(ICE2):c.2343T>C:p.Tyr781=	coding	Benign
15	60497599	G	T	G60497599T	RORA	NM_134261.3(RORA):c.1428C>A:p.Thr476=	coding	Benign
15	60499915	G	A	G60499915A	RORA	NM_134261.3(RORA):c.1384C>T:p.Arg462Ter	coding	Pathogenic
15	60511542	C	T	C60511542T	RORA	NM_134261.3(RORA):c.504G>A:p.Gln168=	coding	Benign
15	60511607	G	A	G60511607A	RORA	NM_134261.3(RORA):c.439C>T:p.Arg147Ter	coding	Pathogenic
15	61854399	C	T	C61854399T	VPS13C	NM_020821.3(VPS13C):c.*58G>A	noncoding	Benign
15	61854770	T	A	T61854770A	VPS13C	NM_020821.3(VPS13C):c.11160+101A>T	noncoding	Benign
15	61854971	A	G	A61854971G	VPS13C	NM_020821.3(VPS13C):c.11077-17T>C	noncoding	Benign
15	61855008	T	A	T61855008A	VPS13C	NM_020821.3(VPS13C):c.11077-54A>T	noncoding	Benign
15	61856582	A	G	A61856582G	VPS13C	NM_020821.3(VPS13C):c.10953-173T>C	noncoding	Benign
15	61868543	T	C	T61868543C	VPS13C	NM_020821.3(VPS13C):c.10863+116A>G	noncoding	Benign
15	61868559	C	A	C61868559A	VPS13C	NM_020821.3(VPS13C):c.10863+100G>T	noncoding	Benign
15	61873354	T	C	T61873354C	VPS13C	NM_020821.3(VPS13C):c.10470A>G:p.Ala3490=	coding	Benign
15	61873378	G	A	G61873378A	VPS13C	NM_020821.3(VPS13C):c.10446C>T:p.Thr3482=	coding	Benign
15	61874818	G	A	G61874818A	VPS13C	NM_020821.3(VPS13C):c.10414+58C>T	noncoding	Benign
15	61875698	G	A	G61875698A	VPS13C	NM_020821.3(VPS13C):c.10338+34C>T	noncoding	Benign
15	61876062	G	A	G61876062A	VPS13C	NM_020821.3(VPS13C):c.10225-217C>T	noncoding	Benign
15	61876873	A	G	A61876873G	VPS13C	NM_020821.3(VPS13C):c.10224+100T>C	noncoding	Benign
15	61876956	C	T	C61876956T	VPS13C	NM_020821.3(VPS13C):c.10224+17G>A	noncoding	Benign
15	61878689	C	A	C61878689A	VPS13C	NM_020821.3(VPS13C):c.10060G>T:p.Glu3354Ter	coding	Pathogenic
15	61880410	G	A	G61880410A	VPS13C	NM_020821.3(VPS13C):c.10002+199C>T	noncoding	Benign
15	61880708	T	C	T61880708C	VPS13C	NM_020821.3(VPS13C):c.9903A>G:p.Gln3301=	coding	Benign
15	61880778	G	T	G61880778T	VPS13C	NM_020821.3(VPS13C):c.9889-56C>A	noncoding	Benign
15	61880786	G	A	G61880786A	VPS13C	NM_020821.3(VPS13C):c.9888+57C>T	noncoding	Benign
15	61881543	C	T	C61881543T	VPS13C	NM_020821.3(VPS13C):c.9776+20G>A	noncoding	Benign
15	61881651	A	G	A61881651G	VPS13C	NM_020821.3(VPS13C):c.9707-19T>C	noncoding	Benign
15	61882695	A	G	A61882695G	VPS13C	NM_020821.3(VPS13C):c.9525T>C:p.Ile3175=	coding	Benign
15	61882804	C	G	C61882804G	VPS13C	NM_020821.3(VPS13C):c.9484-68G>C	noncoding	Benign
15	61882820	T	C	T61882820C	VPS13C	NM_020821.3(VPS13C):c.9484-84A>G	noncoding	Benign
15	61882935	G	A	G61882935A	VPS13C	NM_020821.3(VPS13C):c.9484-199C>T	noncoding	Benign
15	61884110	A	G	A61884110G	VPS13C	NM_020821.3(VPS13C):c.9483+18T>C	noncoding	Benign
15	61889999	C	T	C61889999T	VPS13C	NM_020821.3(VPS13C):c.9341+166G>A	noncoding	Benign
15	61890153	C	T	C61890153T	VPS13C	NM_020821.3(VPS13C):c.9341+12G>A	noncoding	Benign
15	61907143	T	A	T61907143A	VPS13C	NM_020821.3(VPS13C):c.9105+121A>T	noncoding	Benign
15	61907212	C	T	C61907212T	VPS13C	NM_020821.3(VPS13C):c.9105+52G>A	noncoding	Benign
15	61907289	T	C	T61907289C	VPS13C	NM_020821.3(VPS13C):c.9080A>G:p.Asn3027Ser	coding	Benign
15	61907381	T	A	T61907381A	VPS13C	NM_020821.3(VPS13C):c.8988A>T:p.Pro2996=	coding	Benign
15	61908775	T	C	T61908775C	VPS13C	NM_020821.3(VPS13C):c.8978+217A>G	noncoding	Benign
15	61910078	T	C	T61910078C	VPS13C	NM_020821.3(VPS13C):c.8844+99A>G	noncoding	Benign
15	61910091	C	T	C61910091T	VPS13C	NM_020821.3(VPS13C):c.8844+86G>A	noncoding	Benign
15	61910283	C	T	C61910283T	VPS13C	NM_020821.3(VPS13C):c.8738G>A:p.Ser2913Asn	coding	Benign
15	61910439	T	C	T61910439C	VPS13C	NM_020821.3(VPS13C):c.8716-134A>G	noncoding	Benign
15	61911685	T	A	T61911685A	VPS13C	NM_020821.3(VPS13C):c.8715+155A>T	noncoding	Benign
15	61915420	T	C	T61915420C	VPS13C	NM_020821.3(VPS13C):c.8445+213A>G	noncoding	Benign
15	61917535	C	T	C61917535T	VPS13C	NM_020821.3(VPS13C):c.7861G>A:p.Val2621Ile	coding	Benign
15	61917641	G	A	G61917641A	VPS13C	NM_020821.3(VPS13C):c.7761-6C>T	noncoding	Benign
15	61918075	G	T	G61918075T	VPS13C	NM_020821.3(VPS13C):c.7760+61C>A	noncoding	Benign
15	61918305	G	A	G61918305A	VPS13C	NM_020821.3(VPS13C):c.7639-48C>T	noncoding	Benign
15	61918376	T	C	T61918376C	VPS13C	NM_020821.3(VPS13C):c.7639-119A>G	noncoding	Benign
15	61919191	T	C	T61919191C	VPS13C	NM_020821.3(VPS13C):c.7638+98A>G	noncoding	Benign
15	61919251	G	A	G61919251A	VPS13C	NM_020821.3(VPS13C):c.7638+38C>T	noncoding	Benign
15	61920052	A	C	A61920052C	VPS13C	NM_020821.3(VPS13C):c.7477+15T>G	noncoding	Benign
15	61920099	C	T	C61920099T	VPS13C	NM_020821.3(VPS13C):c.7445G>A:p.Arg2482His	coding	Benign
15	61920344	A	G	A61920344G	VPS13C	NM_020821.3(VPS13C):c.7213-13T>C	noncoding	Benign
15	61920485	G	A	G61920485A	VPS13C	NM_020821.3(VPS13C):c.7212+13C>T	noncoding	Benign
15	61920582	T	C	T61920582C	VPS13C	NM_020821.3(VPS13C):c.7128A>G:p.Gln2376=	coding	Benign
15	61920666	C	T	C61920666T	VPS13C	NM_020821.3(VPS13C):c.7063-19G>A	noncoding	Benign
15	61922304	T	C	T61922304C	VPS13C	NM_020821.3(VPS13C):c.6975+93A>G	noncoding	Benign
15	61922408	C	T	C61922408T	VPS13C	NM_020821.3(VPS13C):c.6964G>A:p.Val2322Met	coding	Benign
15	61925442	T	C	T61925442C	VPS13C	NM_020821.3(VPS13C):c.6609+14A>G	noncoding	Benign
15	61927032	A	G	A61927032G	VPS13C	NM_020821.3(VPS13C):c.6516+59T>C	noncoding	Benign
15	61927339	G	A	G61927339A	VPS13C	NM_020821.3(VPS13C):c.6287-19C>T	noncoding	Benign
15	61927339	G	C	G61927339C	VPS13C	NM_020821.3(VPS13C):c.6287-19C>G	noncoding	Benign
15	61929269	G	A	G61929269A	VPS13C	NM_020821.3(VPS13C):c.6286+232C>T	noncoding	Benign
15	61929355	C	G	C61929355G	VPS13C	NM_020821.3(VPS13C):c.6286+146G>C	noncoding	Benign
15	61929393	A	C	A61929393C	VPS13C	NM_020821.3(VPS13C):c.6286+108T>G	noncoding	Benign
15	61929480	T	C	T61929480C	VPS13C	NM_020821.3(VPS13C):c.6286+21A>G	noncoding	Benign
15	61929987	T	C	T61929987C	VPS13C	NM_020821.3(VPS13C):c.6039-239A>G	noncoding	Benign
15	61931074	C	T	C61931074T	VPS13C	NM_020821.3(VPS13C):c.6038+16G>A	noncoding	Benign
15	61931104	C	G	C61931104G	VPS13C	NM_020821.3(VPS13C):c.6024G>C:p.Glu2008Asp	coding	Benign
15	61934224	T	G	T61934224G	VPS13C	NM_020821.3(VPS13C):c.5863A>C:p.Asn1955His	coding	Benign
15	61934489	T	C	T61934489C	VPS13C	NM_020821.3(VPS13C):c.5756-158A>G	noncoding	Benign
15	61936497	G	C	G61936497C	VPS13C	NM_020821.3(VPS13C):c.5755+100C>G	noncoding	Benign
15	61936571	A	C	A61936571C	VPS13C	NM_020821.3(VPS13C):c.5755+26T>G	noncoding	Benign
15	61936716	A	C	A61936716C	VPS13C	NM_020821.3(VPS13C):c.5636T>G:p.Met1879Arg	coding	Benign
15	61940597	C	T	C61940597T	VPS13C	NM_020821.3(VPS13C):c.5601+50G>A	noncoding	Benign
15	61940726	G	A	G61940726A	VPS13C	NM_020821.3(VPS13C):c.5522C>T:p.Ser1841Phe	coding	Benign
15	61940968	A	G	A61940968G	VPS13C	NM_020821.3(VPS13C):c.5454-174T>C	noncoding	Benign
15	61945511	C	T	C61945511T	VPS13C	NM_020821.3(VPS13C):c.5148+204G>A	noncoding	Benign
15	61945694	A	C	A61945694C	VPS13C	NM_020821.3(VPS13C):c.5148+21T>G	noncoding	Benign
15	61946032	G	A	G61946032A	VPS13C	NM_020821.3(VPS13C):c.4981-150C>T	noncoding	Benign
15	61946149	C	T	C61946149T	VPS13C	NM_020821.3(VPS13C):c.4980+158G>A	noncoding	Benign
15	61946585	T	A	T61946585A	VPS13C	NM_020821.3(VPS13C):c.4877-175A>T	noncoding	Benign
15	61947105	A	T	A61947105T	VPS13C	NM_020821.3(VPS13C):c.4876+88T>A	noncoding	Benign
15	61947353	A	T	A61947353T	VPS13C	NM_020821.3(VPS13C):c.4760-44T>A	noncoding	Benign
15	61947498	C	T	C61947498T	VPS13C	NM_020821.3(VPS13C):c.4760-189G>A	noncoding	Benign
15	61949763	C	T	C61949763T	VPS13C	NM_020821.3(VPS13C):c.4597-158G>A	noncoding	Benign
15	61950998	T	C	T61950998C	VPS13C	NM_020821.3(VPS13C):c.4483A>G:p.Ile1495Val	coding	Benign
15	61951630	C	T	C61951630T	VPS13C	NM_020821.3(VPS13C):c.4456+194G>A	noncoding	Benign
15	61951846	A	G	A61951846G	VPS13C	NM_020821.3(VPS13C):c.4434T>C:p.Ser1478=	coding	Benign
15	61951918	G	A	G61951918A	VPS13C	NM_020821.3(VPS13C):c.4362C>T:p.Val1454=	coding	Benign
15	61951990	G	A	G61951990A	VPS13C	NM_020821.3(VPS13C):c.4300-10C>T	noncoding	Benign
15	61952082	C	G	C61952082G	VPS13C	NM_020821.3(VPS13C):c.4300-102G>C	noncoding	Benign
15	61954355	T	C	T61954355C	VPS13C	NM_020821.3(VPS13C):c.4299+66A>G	noncoding	Benign
15	61954665	G	A	G61954665A	VPS13C	NM_020821.3(VPS13C):c.4166-111C>T	noncoding	Benign
15	61959252	T	C	T61959252C	VPS13C	NM_020821.3(VPS13C):c.4056+196A>G	noncoding	Benign
15	61961592	T	C	T61961592C	VPS13C	NM_020821.3(VPS13C):c.3905A>G:p.Tyr1302Cys	coding	Benign
15	61962693	T	C	T61962693C	VPS13C	NM_020821.3(VPS13C):c.3435+56A>G	noncoding	Benign
15	61962790	T	C	T61962790C	VPS13C	NM_020821.3(VPS13C):c.3394A>G:p.Ile1132Val	coding	Benign
15	61962973	A	G	A61962973G	VPS13C	NM_020821.3(VPS13C):c.3332-121T>C	noncoding	Benign
15	61967438	C	T	C61967438T	VPS13C	NM_020821.3(VPS13C):c.2921G>A:p.Arg974Lys	coding	Benign
15	61967573	C	T	C61967573T	VPS13C	NM_020821.3(VPS13C):c.2912-126G>A	noncoding	Benign
15	61969413	T	C	T61969413C	VPS13C	NM_020821.3(VPS13C):c.2797A>G:p.Thr933Ala	coding	Benign/Likely_benign
15	61969542	C	T	C61969542T	VPS13C	NM_020821.3(VPS13C):c.2758-90G>A	noncoding	Benign
15	61969565	T	C	T61969565C	VPS13C	NM_020821.3(VPS13C):c.2758-113A>G	noncoding	Benign
15	61973308	G	A	G61973308A	VPS13C	NM_020821.3(VPS13C):c.2617+146C>T	noncoding	Benign
15	61974466	C	T	C61974466T	VPS13C	NM_020821.3(VPS13C):c.2409-49G>A	noncoding	Benign
15	61974584	A	G	A61974584G	VPS13C	NM_020821.3(VPS13C):c.2409-167T>C	noncoding	Benign
15	61977338	T	C	T61977338C	VPS13C	NM_020821.3(VPS13C):c.2291-139A>G	noncoding	Benign
15	61978566	G	A	G61978566A	VPS13C	NM_020821.3(VPS13C):c.2290+60C>T	noncoding	Benign
15	61978646	T	C	T61978646C	VPS13C	NM_020821.3(VPS13C):c.2270A>G:p.Gln757Arg	coding	Benign
15	61981487	G	A	G61981487A	VPS13C	NM_020821.3(VPS13C):c.2030-9C>T	noncoding	Benign
15	61982741	G	C	G61982741C	VPS13C	NM_020821.3(VPS13C):c.1915-168C>G	noncoding	Benign
15	61982818	T	C	T61982818C	VPS13C	NM_020821.3(VPS13C):c.1915-245A>G	noncoding	Benign
15	61983698	C	A	C61983698A	VPS13C	NM_020821.3(VPS13C):c.1914+122G>T	noncoding	Benign
15	61984003	C	T	C61984003T	VPS13C	NM_020821.3(VPS13C):c.1731G>A:p.Ala577=	coding	Benign
15	61990899	T	C	T61990899C	VPS13C	NM_020821.3(VPS13C):c.1578+101A>G	noncoding	Benign
15	61991866	C	T	C61991866T	VPS13C	NM_020821.3(VPS13C):c.1354-64G>A	noncoding	Benign
15	61991902	A	G	A61991902G	VPS13C	NM_020821.3(VPS13C):c.1354-100T>C	noncoding	Benign
15	62000630	T	C	T62000630C	VPS13C	NM_020821.3(VPS13C):c.1291-4A>G	noncoding	Benign
15	62000639	G	A	G62000639A	VPS13C	NM_020821.3(VPS13C):c.1291-13C>T	noncoding	Benign
15	62000757	T	G	T62000757G	VPS13C	NM_020821.3(VPS13C):c.1291-131A>C	noncoding	Benign
15	62007404	T	G	T62007404G	VPS13C	NM_020821.3(VPS13C):c.1194A>C:p.Ile398=	coding	Benign
15	62007621	T	C	T62007621C	VPS13C	NM_020821.3(VPS13C):c.1119-142A>G	noncoding	Benign
15	62008895	G	A	G62008895A	VPS13C	NM_020821.3(VPS13C):c.1012-134C>T	noncoding	Benign
15	62010532	C	T	C62010532T	VPS13C	NM_020821.3(VPS13C):c.951G>A:p.Thr317=	coding	Benign
15	62010628	T	C	T62010628C	VPS13C	NM_020821.3(VPS13C):c.884-29A>G	noncoding	Benign
15	62010687	G	C	G62010687C	VPS13C	NM_020821.3(VPS13C):c.884-88C>G	noncoding	Benign
15	62010693	A	C	A62010693C	VPS13C	NM_020821.3(VPS13C):c.884-94T>G	noncoding	Benign
15	62012891	A	G	A62012891G	VPS13C	NM_020821.3(VPS13C):c.825+148T>C	noncoding	Benign
15	62013021	A	G	A62013021G	VPS13C	NM_020821.3(VPS13C):c.825+18T>C	noncoding	Benign
15	62013914	T	C	T62013914C	VPS13C	NM_020821.3(VPS13C):c.744+19A>G	noncoding	Benign
15	62014064	T	C	T62014064C	VPS13C	NM_020821.3(VPS13C):c.685-72A>G	noncoding	Benign
15	62020641	A	C	A62020641C	VPS13C	NM_020821.3(VPS13C):c.625-103T>G	noncoding	Benign
15	62023275	G	A	G62023275A	VPS13C	NM_020821.3(VPS13C):c.624+136C>T	noncoding	Benign
15	62023632	G	A	G62023632A	VPS13C	NM_020821.3(VPS13C):c.515-112C>T	noncoding	Benign
15	62023751	C	T	C62023751T	VPS13C	NM_020821.3(VPS13C):c.514+29G>A	noncoding	Benign
15	62023836	C	T	C62023836T	VPS13C	NM_020821.3(VPS13C):c.458G>A:p.Arg153His	coding	Benign
15	62028340	T	C	T62028340C	VPS13C	NM_020821.3(VPS13C):c.448+18A>G	noncoding	Benign
15	62033319	A	T	A62033319T	VPS13C	NM_020821.3(VPS13C):c.385+122T>A	noncoding	Benign
15	62034928	T	C	T62034928C	VPS13C	NM_020821.3(VPS13C):c.283+29A>G	noncoding	Benign
15	62034997	C	T	C62034997T	VPS13C	NM_020821.3(VPS13C):c.243G>A:p.Ala81=	coding	Benign
15	62035193	A	G	A62035193G	VPS13C	NM_020821.3(VPS13C):c.188-141T>C	noncoding	Benign
15	62041386	T	C	T62041386C	VPS13C	NM_020821.3(VPS13C):c.145-20A>G	noncoding	Benign
15	62044080	T	C	T62044080C	VPS13C	NM_020821.3(VPS13C):c.144+132A>G	noncoding	Benign
15	62060175	A	G	A62060175G	VPS13C	NM_020821.3(VPS13C):c.100+100T>C	noncoding	Benign
15	62060644	C	T	C62060644T	VPS13C	NR_135690.1(VPS13C-DT):n.142C>T	noncoding	Benign
15	63042624	G	A	G63042624A	TPM1	NM_001018005.1(TPM1):c.-206G>A	noncoding	Benign/Likely_benign
15	63042641	A	G	A63042641G	TPM1	Single_allele	noncoding	Benign
15	63042678	T	G	T63042678G	TPM1	Single_allele	noncoding	Benign
15	63042705	C	G	C63042705G	TPM1	Single_allele	noncoding	Benign
15	63042757	C	T	C63042757T	TPM1	NM_001018005.2(TPM1):c.-73C>T	noncoding	Benign
15	63042816	T	C	T63042816C	TPM1	NM_001018005.2(TPM1):c.-14T>C	noncoding	Benign
15	63042916	G	A	G63042916A	TPM1	NM_001018005.2(TPM1):c.87G>A:p.Lys29=	coding	Benign/Likely_benign
15	63043688	G	C	G63043688C	TPM1	NM_001018005.2(TPM1):c.115-339G>C	noncoding	Benign
15	63043711	G	A	G63043711A	TPM1	NM_001018005.2(TPM1):c.115-316G>A	coding	Benign/Likely_benign
15	63043813	C	G	C63043813G	TPM1	NM_001018005.2(TPM1):c.115-214C>G	coding	Benign/Likely_benign
15	63043900	C	G	C63043900G	TPM1	NM_001018005.2(TPM1):c.115-127C>G	noncoding	Benign
15	63044089	A	G	A63044089G	TPM1	NM_001018005.2(TPM1):c.177A>G:p.Lys59=	coding	Benign/Likely_benign
15	63044173	C	T	C63044173T	TPM1	NM_001018005.2(TPM1):c.240+21C>T	noncoding	Benign
15	63048296	T	C	T63048296C	TPM1	NM_001018005.2(TPM1):c.240+4144T>C	noncoding	Benign
15	63048408	T	C	T63048408C	TPM1	NM_001018005.2(TPM1):c.240+4256T>C	noncoding	Benign
15	63048448	A	G	A63048448G	TPM1	NM_001018005.2(TPM1):c.240+4296A>G	coding	Benign
15	63048506	C	T	C63048506T	TPM1	NM_001018005.2(TPM1):c.240+4354C>T	coding	Benign
15	63048791	C	T	C63048791T	TPM1	NM_001018005.2(TPM1):c.240+4639C>T	noncoding	Benign
15	63048874	C	A	C63048874A	TPM1	NM_001018005.2(TPM1):c.240+4722C>A	noncoding	Benign
15	63056897	G	A	G63056897A	TPM1	NM_001018005.2(TPM1):c.241-88G>A	noncoding	Benign
15	63056933	T	A	T63056933A	TPM1	NM_001018005.2(TPM1):c.241-52T>A	noncoding	Benign
15	63059404	C	T	C63059404T	TPM1	NM_001018005.2(TPM1):c.375-159C>T	noncoding	Benign
15	63059488	A	G	A63059488G	TPM1	NM_001018005.2(TPM1):c.375-75A>G	noncoding	Benign
15	63059558	T	C	T63059558C	TPM1	NM_001018005.2(TPM1):c.375-5T>C	noncoding	Benign/Likely_benign
15	63060851	T	G	T63060851G	TPM1	NM_001018005.2(TPM1):c.493-18T>G	noncoding	Benign/Likely_benign
15	63061561	C	A	C63061561A	TPM1	NM_001018005.2(TPM1):c.564-152C>A	noncoding	Benign
15	63061809	G	C	G63061809C	TPM1	NM_001018005.2(TPM1):c.639+21G>C	noncoding	Benign/Likely_benign
15	63062238	T	C	T63062238C	TPM1	NM_001018005.2(TPM1):c.663T>C:p.Tyr221=	coding	Benign/Likely_benign
15	63062599	G	A	G63062599A	TPM1	NM_001018005.2(TPM1):c.726G>A:p.Ala242=	coding	Benign/Likely_benign
15	63062789	C	T	C63062789T	TPM1	NM_001018005.2(TPM1):c.772+144C>T	noncoding	Benign
15	63063982	G	A	G63063982A	TPM1	NM_001018005.2(TPM1):c.773-82G>A	noncoding	Benign
15	63064183	A	T	A63064183T	TPM1	NM_001018005.2(TPM1):c.851+41A>T	coding	Benign
15	63064186	C	A	C63064186A	TPM1	NM_001018005.2(TPM1):c.851+44C>A	coding	Benign
15	63065975	A	G	A63065975G	TPM1	NM_001018005.2(TPM1):c.*76A>G	coding	Benign/Likely_benign
15	63069980	G	A	G63069980A	TPM1	NM_001407336.1(TPM1):c.*37G>A	coding	Benign
15	63070180	G	T	G63070180T	TPM1	NM_001407336.1(TPM1):c.*237G>T	coding	Benign
15	63070814	T	C	T63070814C	TPM1	NM_001407336.1(TPM1):c.*871T>C	noncoding	Benign
15	63070824	C	A	C63070824A	TPM1	NM_001407336.1(TPM1):c.*881C>A	noncoding	Benign
15	63071202	C	T	C63071202T	TPM1	NM_000366.2(TPM1):c.*30C>T	noncoding	Benign
15	63071432	C	T	C63071432T	TPM1	NM_000366.2(TPM1):c.*264C>T	noncoding	Benign
15	63071455	A	G	A63071455G	TPM1	NM_000366.2(TPM1):c.*287G=	noncoding	Benign
15	63326051	G	A	G63326051A	CA12	NM_001218.5(CA12):c.*234C>T	noncoding	Benign
15	63338692	C	T	C63338692T	CA12	NM_001218.5(CA12):c.874+127G>A	noncoding	Benign
15	63341039	T	C	T63341039C	CA12	NM_001218.5(CA12):c.526-256A>G	noncoding	Benign
15	63342206	G	T	G63342206T	CA12	NM_001218.5(CA12):c.430-109C>A	noncoding	Benign
15	63342229	C	T	C63342229T	CA12	NM_001218.5(CA12):c.430-132G>A	noncoding	Benign
15	63345291	G	C	G63345291C	CA12	NM_001218.5(CA12):c.429+186C>G	noncoding	Benign
15	63345329	C	T	C63345329T	CA12	NM_001218.5(CA12):c.429+148G>A	noncoding	Benign
15	63346279	G	A	G63346279A	CA12	NM_001218.5(CA12):c.286+251C>T	noncoding	Benign
15	63346438	C	T	C63346438T	CA12	NM_001218.5(CA12):c.286+92G>A	noncoding	Benign
15	63346817	A	G	A63346817G	CA12	NM_001218.5(CA12):c.107-108T>C	noncoding	Benign
15	63346822	C	T	C63346822T	CA12	NM_001218.5(CA12):c.107-113G>A	noncoding	Benign
15	63381381	A	T	A63381381T	CA12	NM_001218.5(CA12):c.85+255T>A	noncoding	Benign
15	63381542	G	C	G63381542C	CA12	NM_001218.5(CA12):c.85+94C>G	noncoding	Benign
15	63381972	T	C	T63381972C	CA12	Single_allele	noncoding	Benign
15	63382096	T	C	T63382096C	CA12	Single_allele	noncoding	Benign
15	63608914	A	G	A63608914G	HERC1	NM_003922.4(HERC1):c.*167T>C	noncoding	Benign
15	63609057	G	C	G63609057C	HERC1	NM_003922.4(HERC1):c.*24C>G	noncoding	Benign
15	63609286	G	A	G63609286A	HERC1	NM_003922.4(HERC1):c.14401-20C>T	noncoding	Benign/Likely_benign
15	63609447	G	A	G63609447A	HERC1	NM_003922.4(HERC1):c.14401-181C>T	noncoding	Benign
15	63609577	A	G	A63609577G	HERC1	NM_003922.4(HERC1):c.14401-311T>C	noncoding	Benign
15	63612081	C	G	C63612081G	HERC1	NM_003922.4(HERC1):c.14400+170G>C	noncoding	Benign
15	63615741	T	C	T63615741C	HERC1	NM_003922.4(HERC1):c.14094+27A>G	noncoding	Benign
15	63616388	G	T	G63616388T	HERC1	NM_003922.4(HERC1):c.13941+42C>A	noncoding	Benign
15	63616985	C	T	C63616985T	HERC1	NM_003922.4(HERC1):c.13689-303G>A	noncoding	Benign
15	63623150	A	G	A63623150G	HERC1	NM_003922.4(HERC1):c.13612-259T>C	noncoding	Benign
15	63623180	G	A	G63623180A	HERC1	NM_003922.4(HERC1):c.13612-289C>T	noncoding	Benign
15	63623587	C	T	C63623587T	HERC1	NM_003922.4(HERC1):c.13611+138G>A	noncoding	Benign
15	63624024	C	T	C63624024T	HERC1	NM_003922.4(HERC1):c.13445+134G>A	noncoding	Benign
15	63626108	G	C	G63626108C	HERC1	NM_003922.4(HERC1):c.13152C>G:p.Pro4384=	coding	Benign
15	63626198	C	T	C63626198T	HERC1	NM_003922.4(HERC1):c.13106-44G>A	noncoding	Benign
15	63626369	T	G	T63626369G	HERC1	NM_003922.4(HERC1):c.13106-215A>C	noncoding	Benign
15	63629077	G	C	G63629077C	HERC1	NM_003922.4(HERC1):c.12967-262C>G	noncoding	Benign
15	63630275	T	C	T63630275C	HERC1	NM_003922.4(HERC1):c.12966+191A>G	noncoding	Benign
15	63630397	T	C	T63630397C	HERC1	NM_003922.4(HERC1):c.12966+69A>G	noncoding	Benign
15	63630553	T	A	T63630553A	HERC1	NM_003922.4(HERC1):c.12879A>T:p.Ile4293=	coding	Benign
15	63630894	T	C	T63630894C	HERC1	NM_003922.4(HERC1):c.12797-259A>G	noncoding	Benign
15	63632442	A	G	A63632442G	HERC1	NM_003922.4(HERC1):c.12796+267T>C	noncoding	Benign
15	63632862	T	C	T63632862C	HERC1	NM_003922.4(HERC1):c.12694-51A>G	noncoding	Benign
15	63633519	A	G	A63633519G	HERC1	NM_003922.4(HERC1):c.12693+329T>C	noncoding	Benign
15	63634090	A	G	A63634090G	HERC1	NM_003922.4(HERC1):c.12571-120T>C	noncoding	Benign
15	63634672	C	T	C63634672T	HERC1	NM_003922.4(HERC1):c.12570+61G>A	noncoding	Benign
15	63634956	T	G	T63634956G	HERC1	NM_003922.4(HERC1):c.12415-68A>C	noncoding	Benign
15	63637901	G	C	G63637901C	HERC1	NM_003922.4(HERC1):c.12094-258C>G	noncoding	Benign
15	63638400	C	A	C63638400A	HERC1	NM_003922.4(HERC1):c.12093+11G>T	noncoding	Benign
15	63638599	G	A	G63638599A	HERC1	NM_003922.4(HERC1):c.11968-63C>T	noncoding	Benign
15	63638694	T	C	T63638694C	HERC1	NM_003922.4(HERC1):c.11967+17A>G	noncoding	Benign
15	63638965	T	C	T63638965C	HERC1	NM_003922.4(HERC1):c.11902-189A>G	noncoding	Benign
15	63639924	G	C	G63639924C	HERC1	NM_003922.4(HERC1):c.11901+228C>G	noncoding	Benign
15	63640314	G	C	G63640314C	HERC1	NM_003922.4(HERC1):c.11739C>G:p.Leu3913=	coding	Benign
15	63641943	C	G	C63641943G	HERC1	NM_003922.4(HERC1):c.11434-300G>C	noncoding	Benign
15	63642657	A	G	A63642657G	HERC1	NM_003922.4(HERC1):c.11433+300T>C	noncoding	Benign
15	63642831	G	A	G63642831A	HERC1	NM_003922.4(HERC1):c.11433+126C>T	noncoding	Benign
15	63642948	C	T	C63642948T	HERC1	NM_003922.4(HERC1):c.11433+9G>A	noncoding	Benign
15	63642950	A	G	A63642950G	HERC1	NM_003922.4(HERC1):c.11433+7T>C	noncoding	Benign
15	63643073	A	G	A63643073G	HERC1	NM_003922.4(HERC1):c.11332-15T>C	noncoding	Benign/Likely_benign
15	63643713	A	G	A63643713G	HERC1	NM_003922.4(HERC1):c.11185-163T>C	noncoding	Benign
15	63645010	C	G	C63645010G	HERC1	NM_003922.4(HERC1):c.11166G>C:p.Glu3722Asp	coding	Benign
15	63645159	C	T	C63645159T	HERC1	NM_003922.4(HERC1):c.11079-62G>A	noncoding	Benign
15	63645458	G	T	G63645458T	HERC1	NM_003922.4(HERC1):c.11078+25C>A	noncoding	Benign
15	63645463	G	T	G63645463T	HERC1	NM_003922.4(HERC1):c.11078+20C>A	noncoding	Benign
15	63645702	A	G	A63645702G	HERC1	NM_003922.4(HERC1):c.10879-20T>C	noncoding	Benign
15	63645922	C	T	C63645922T	HERC1	NM_003922.4(HERC1):c.10879-240G>A	noncoding	Benign
15	63649655	A	C	A63649655C	HERC1	NM_003922.4(HERC1):c.10747+70T>G	noncoding	Benign
15	63651707	T	G	T63651707G	HERC1	NM_003922.4(HERC1):c.10419-327A>C	noncoding	Benign
15	63654004	G	A	G63654004A	HERC1	NM_003922.4(HERC1):c.10290+115C>T	noncoding	Benign
15	63656378	T	A	T63656378A	HERC1	NM_003922.4(HERC1):c.9600-20A>T	noncoding	Benign
15	63658650	C	A	C63658650A	HERC1	NM_003922.4(HERC1):c.9493G>T:p.Ala3165Ser	coding	Benign/Likely_benign
15	63658688	G	A	G63658688A	HERC1	NM_003922.4(HERC1):c.9455C>T:p.Ser3152Phe	coding	Benign
15	63658969	G	T	G63658969T	HERC1	NM_003922.4(HERC1):c.9425-251C>A	noncoding	Benign
15	63659020	A	T	A63659020T	HERC1	NM_003922.4(HERC1):c.9425-302T>A	noncoding	Benign
15	63660090	G	C	G63660090C	HERC1	NM_003922.4(HERC1):c.9224-154C>G	noncoding	Benign
15	63660734	C	T	C63660734T	HERC1	NM_003922.4(HERC1):c.9223+239G>A	noncoding	Benign
15	63660954	A	G	A63660954G	HERC1	NM_003922.4(HERC1):c.9223+19T>C	noncoding	Benign
15	63661830	C	T	C63661830T	HERC1	NM_003922.4(HERC1):c.9093G>A:p.Pro3031=	coding	Benign
15	63663377	A	C	A63663377C	HERC1	NM_003922.4(HERC1):c.8681-173T>G	noncoding	Benign
15	63664455	G	A	G63664455A	HERC1	NM_003922.4(HERC1):c.8680+15C>T	noncoding	Benign
15	63665678	C	T	C63665678T	HERC1	NM_003922.4(HERC1):c.8555+241G>A	noncoding	Benign
15	63665906	A	G	A63665906G	HERC1	NM_003922.4(HERC1):c.8555+13T>C	noncoding	Benign
15	63666030	C	T	C63666030T	HERC1	NM_003922.4(HERC1):c.8444G>A:p.Gly2815Glu	coding	Benign
15	63666563	T	C	T63666563C	HERC1	NM_003922.4(HERC1):c.8207-91A>G	noncoding	Benign
15	63666723	T	C	T63666723C	HERC1	NM_003922.4(HERC1):c.8207-251A>G	noncoding	Benign
15	63669807	T	C	T63669807C	HERC1	NM_003922.4(HERC1):c.8046-109A>G	noncoding	Benign
15	63669822	G	A	G63669822A	HERC1	NM_003922.4(HERC1):c.8046-124C>T	noncoding	Benign
15	63672262	G	C	G63672262C	HERC1	NM_003922.4(HERC1):c.8045+234C>G	noncoding	Benign
15	63672267	C	T	C63672267T	HERC1	NM_003922.4(HERC1):c.8045+229G>A	noncoding	Benign
15	63672369	A	G	A63672369G	HERC1	NM_003922.4(HERC1):c.8045+127T>C	noncoding	Benign
15	63674373	C	T	C63674373T	HERC1	NM_003922.4(HERC1):c.7815G>A:p.Leu2605=	coding	Benign/Likely_benign
15	63675307	A	G	A63675307G	HERC1	NM_003922.4(HERC1):c.7071-190T>C	noncoding	Benign
15	63675416	G	C	G63675416C	HERC1	NM_003922.4(HERC1):c.7071-299C>G	noncoding	Benign
15	63678257	T	C	T63678257C	HERC1	NM_003922.4(HERC1):c.6658A>G:p.Ile2220Val	coding	Benign
15	63678329	G	A	G63678329A	HERC1	NM_003922.4(HERC1):c.6586C>T:p.Arg2196Ter	coding	Pathogenic/Likely_pathogenic
15	63680072	A	G	A63680072G	HERC1	NM_003922.4(HERC1):c.6549+5T>C	noncoding	Benign/Likely_benign
15	63686822	C	T	C63686822T	HERC1	NM_003922.4(HERC1):c.6049-287G>A	noncoding	Benign
15	63689654	T	C	T63689654C	HERC1	NM_003922.4(HERC1):c.5983A>G:p.Thr1995Ala	coding	Benign
15	63689819	T	C	T63689819C	HERC1	NM_003922.4(HERC1):c.5938-120A>G	noncoding	Benign
15	63690353	C	T	C63690353T	HERC1	NM_003922.4(HERC1):c.5937+188G>A	noncoding	Benign
15	63690546	C	A	C63690546A	HERC1	NM_003922.4(HERC1):c.5932G>T:p.Ala1978Ser	coding	Benign/Likely_benign
15	63690639	G	A	G63690639A	HERC1	NM_003922.4(HERC1):c.5839C>T:p.Leu1947=	coding	Benign/Likely_benign
15	63692573	T	C	T63692573C	HERC1	NM_003922.4(HERC1):c.5675-7A>G	noncoding	Benign
15	63695926	T	G	T63695926G	HERC1	NM_003922.4(HERC1):c.5121+198A>C	noncoding	Benign
15	63696158	C	G	C63696158G	HERC1	NM_003922.4(HERC1):c.5087G>C:p.Gly1696Ala	coding	Benign
15	63696201	G	C	G63696201C	HERC1	NM_003922.4(HERC1):c.5044C>G:p.Leu1682Val	coding	Benign/Likely_benign
15	63696566	A	T	A63696566T	HERC1	NM_003922.4(HERC1):c.4906-227T>A	noncoding	Benign
15	63699289	C	T	C63699289T	HERC1	NM_003922.4(HERC1):c.4637-293G>A	noncoding	Benign
15	63706560	C	T	C63706560T	HERC1	NM_003922.4(HERC1):c.4636+220G>A	noncoding	Benign
15	63706664	T	G	T63706664G	HERC1	NM_003922.4(HERC1):c.4636+116A>C	noncoding	Benign
15	63706913	G	C	G63706913C	HERC1	NM_003922.4(HERC1):c.4585-82C>G	noncoding	Benign
15	63707060	T	C	T63707060C	HERC1	NM_003922.4(HERC1):c.4585-229A>G	noncoding	Benign
15	63712639	G	A	G63712639A	HERC1	NM_003922.4(HERC1):c.4584+136C>T	noncoding	Benign
15	63712910	C	A	C63712910A	HERC1	NM_003922.4(HERC1):c.4464-15G>T	noncoding	Benign/Likely_benign
15	63713047	A	C	A63713047C	HERC1	NM_003922.4(HERC1):c.4464-152T>G	noncoding	Benign
15	63713134	C	T	C63713134T	HERC1	NM_003922.4(HERC1):c.4463+219G>A	noncoding	Benign
15	63713523	A	G	A63713523G	HERC1	NM_003922.4(HERC1):c.4293T>C:p.Leu1431=	coding	Benign/Likely_benign
15	63716075	C	G	C63716075G	HERC1	NM_003922.4(HERC1):c.4150+227G>C	noncoding	Benign
15	63716142	G	A	G63716142A	HERC1	NM_003922.4(HERC1):c.4150+160C>T	noncoding	Benign
15	63716710	A	G	A63716710G	HERC1	NM_003922.4(HERC1):c.3979-237T>C	noncoding	Benign
15	63718289	C	G	C63718289G	HERC1	NM_003922.4(HERC1):c.3978+285G>C	noncoding	Benign
15	63718543	A	C	A63718543C	HERC1	NM_003922.4(HERC1):c.3978+31T>G	noncoding	Benign
15	63718905	T	C	T63718905C	HERC1	NM_003922.4(HERC1):c.3743-8A>G	noncoding	Benign
15	63723131	G	A	G63723131A	HERC1	NM_003922.4(HERC1):c.3742+51C>T	noncoding	Benign
15	63723170	T	C	T63723170C	HERC1	NM_003922.4(HERC1):c.3742+12A>G	noncoding	Benign/Likely_benign
15	63725124	C	G	C63725124G	HERC1	NM_003922.4(HERC1):c.3568+168G>C	noncoding	Benign
15	63725599	A	G	A63725599G	HERC1	NM_003922.4(HERC1):c.3347-86T>C	noncoding	Benign
15	63727874	C	T	C63727874T	HERC1	NM_003922.4(HERC1):c.3155-36G>A	noncoding	Benign
15	63728053	G	A	G63728053A	HERC1	NM_003922.4(HERC1):c.3155-215C>T	noncoding	Benign
15	63728939	T	A	T63728939A	HERC1	NM_003922.4(HERC1):c.3154+297A>T	noncoding	Benign
15	63728940	A	T	A63728940T	HERC1	NM_003922.4(HERC1):c.3154+296T>A	noncoding	Benign
15	63729277	T	G	T63729277G	HERC1	NM_003922.4(HERC1):c.3113A>C:p.Lys1038Thr	coding	Benign
15	63732592	T	A	T63732592A	HERC1	NM_003922.4(HERC1):c.2868+332A>T	noncoding	Benign
15	63733024	T	C	T63733024C	HERC1	NM_003922.4(HERC1):c.2768A>G:p.Asn923Ser	coding	Benign/Likely_benign
15	63733274	A	C	A63733274C	HERC1	NM_003922.4(HERC1):c.2647-129T>G	noncoding	Benign
15	63734866	A	G	A63734866G	HERC1	NM_003922.4(HERC1):c.2521-17T>C	noncoding	Benign
15	63734869	G	A	G63734869A	HERC1	NM_003922.4(HERC1):c.2521-20C>T	noncoding	Benign/Likely_benign
15	63735174	G	T	G63735174T	HERC1	NM_003922.4(HERC1):c.2521-325C>A	noncoding	Benign
15	63746671	T	C	T63746671C	HERC1	NM_003922.4(HERC1):c.2520+247A>G	noncoding	Benign
15	63746754	G	A	G63746754A	HERC1	NM_003922.4(HERC1):c.2520+164C>T	noncoding	Benign
15	63746806	G	A	G63746806A	HERC1	NM_003922.4(HERC1):c.2520+112C>T	noncoding	Benign
15	63746851	T	C	T63746851C	HERC1	NM_003922.4(HERC1):c.2520+67A>G	noncoding	Benign
15	63746900	C	T	C63746900T	HERC1	NM_003922.4(HERC1):c.2520+18G>A	noncoding	Benign
15	63747188	G	A	G63747188A	HERC1	NM_003922.4(HERC1):c.2355-105C>T	noncoding	Benign
15	63747375	A	G	A63747375G	HERC1	NM_003922.4(HERC1):c.2355-292T>C	noncoding	Benign
15	63749706	G	C	G63749706C	HERC1	NM_003922.4(HERC1):c.1988C>G:p.Ala663Gly	coding	Benign/Likely_benign
15	63754800	T	C	T63754800C	HERC1	NM_003922.4(HERC1):c.1631-152A>G	noncoding	Benign
15	63754921	T	C	T63754921C	HERC1	NM_003922.4(HERC1):c.1631-273A>G	noncoding	Benign
15	63755086	T	C	T63755086C	HERC1	NM_003922.4(HERC1):c.1630+143A>G	noncoding	Benign
15	63756252	T	C	T63756252C	HERC1	NM_003922.4(HERC1):c.1533+185A>G	noncoding	Benign
15	63756791	T	C	T63756791C	HERC1	NM_003922.4(HERC1):c.1222-43A>G	noncoding	Benign
15	63757970	A	G	A63757970G	HERC1	NM_003922.4(HERC1):c.1221+205T>C	noncoding	Benign
15	63758101	G	A	G63758101A	HERC1	NM_003922.4(HERC1):c.1221+74C>T	noncoding	Benign
15	63764216	C	T	C63764216T	HERC1	NM_003922.4(HERC1):c.931-25G>A	noncoding	Benign
15	63764238	T	C	T63764238C	HERC1	NM_003922.4(HERC1):c.931-47A>G	noncoding	Benign
15	63774787	G	A	G63774787A	HERC1	NM_003922.4(HERC1):c.837C>T:p.His279=	coding	Benign
15	63774838	T	C	T63774838C	HERC1	NM_003922.4(HERC1):c.786A>G:p.Arg262=	coding	Benign
15	63775308	G	A	G63775308A	HERC1	NM_003922.4(HERC1):c.316C>T:p.Arg106Ter	coding	Pathogenic
15	63775396	G	C	G63775396C	HERC1	NM_003922.4(HERC1):c.228C>G:p.Asp76Glu	coding	Benign
15	64160404	C	T	C64160404T	PPIB	NM_000942.5(PPIB):c.250-207G>A	noncoding	Benign
15	64162022	C	A	C64162022A	PPIB	NM_000942.5(PPIB):c.249+19G>T	noncoding	Benign/Likely_benign
15	64162902	C	T	C64162902T	PPIB	NM_000942.5(PPIB):c.85G>A:p.Gly29Arg	coding	Benign/Likely_benign
15	64388192	C	A	C64388192A	TRIP4	NM_016213.5(TRIP4):c.101+228C>A	noncoding	Benign
15	64394188	T	A	T64394188A	TRIP4	NM_016213.5(TRIP4):c.271+73T>A	noncoding	Benign
15	64394233	G	A	G64394233A	TRIP4	NM_016213.5(TRIP4):c.271+118G>A	noncoding	Benign
15	64400732	C	G	C64400732G	TRIP4	NM_016213.5(TRIP4):c.619-11C>G	noncoding	Benign
15	64409597	G	C	G64409597C	TRIP4	NM_016213.5(TRIP4):c.828-16G>C	noncoding	Benign/Likely_benign
15	64409675	G	A	G64409675A	TRIP4	NM_016213.5(TRIP4):c.890G>A:p.Trp297Ter	coding	Pathogenic
15	64409710	C	T	C64409710T	TRIP4	NM_016213.5(TRIP4):c.925C>T:p.Arg309Ter	coding	Pathogenic/Likely_pathogenic
15	64409969	G	A	G64409969A	TRIP4	NM_016213.5(TRIP4):c.1043+141G>A	noncoding	Benign
15	64414060	G	A	G64414060A	TRIP4	NM_016213.5(TRIP4):c.1044-25G>A	noncoding	Benign
15	64414133	A	G	A64414133G	TRIP4	NM_016213.5(TRIP4):c.1092A>G:p.Pro364=	coding	Benign
15	64414229	C	G	C64414229G	TRIP4	NM_016213.5(TRIP4):c.1170+18C>G	noncoding	Benign
15	64414403	T	C	T64414403C	TRIP4	NM_016213.5(TRIP4):c.1170+192T>C	noncoding	Benign
15	64418628	T	C	T64418628C	TRIP4	NM_016213.5(TRIP4):c.1258T>C:p.Leu420=	coding	Benign
15	64418838	C	A	C64418838A	TRIP4	NM_016213.5(TRIP4):c.1358+110C>A	noncoding	Benign
15	64418975	C	T	C64418975T	TRIP4	NM_016213.5(TRIP4):c.1358+247C>T	noncoding	Benign
15	64424023	T	G	T64424023G	TRIP4	NM_016213.5(TRIP4):c.1359-8T>G	noncoding	Benign
15	64444904	G	C	G64444904C	TRIP4	NM_016213.5(TRIP4):c.1576-102G>C	noncoding	Benign
15	64445026	G	A	G64445026A	TRIP4	NM_016213.5(TRIP4):c.1596G>A:p.Glu532=	coding	Benign
15	64445134	G	A	G64445134A	TRIP4	NM_016213.5(TRIP4):c.1678+26G>A	noncoding	Benign
15	64445433	C	T	C64445433T	TRIP4	NM_016213.5(TRIP4):c.1678+325C>T	noncoding	Benign
15	64969687	G	T	G64969687T	SPG21	NM_016630.7(SPG21):c.562-325C>A	noncoding	Benign
15	64969692	T	G	T64969692G	SPG21	NM_016630.7(SPG21):c.562-330A>C	noncoding	Benign
15	64974862	G	A	G64974862A	SPG21	NM_016630.7(SPG21):c.307-115C>T	noncoding	Benign
15	64976641	C	G	C64976641G	SPG21	NM_016630.7(SPG21):c.226-86G>C	noncoding	Benign
15	64980821	A	C	A64980821C	SPG21	NM_016630.7(SPG21):c.225+43T>G	noncoding	Benign
15	64980971	G	A	G64980971A	SPG21	NM_016630.7(SPG21):c.118C>T:p.Arg40Ter	coding	Pathogenic
15	64981206	G	A	G64981206A	SPG21	NM_016630.7(SPG21):c.64-181C>T	noncoding	Benign
15	64983460	A	C	A64983460C	SPG21	NM_016630.7(SPG21):c.63+47T>G	noncoding	Benign
15	64989286	A	G	A64989286G	SPG21	NM_016630.7(SPG21):c.-25+379T>C	noncoding	Benign
15	65006158	T	C	T65006158C	MTFMT	NM_139242.4(MTFMT):c.847A>G:p.Ile283Val	coding	Benign/Likely_benign
15	65006171	C	T	C65006171T	MTFMT	NM_139242.4(MTFMT):c.834G>A:p.Trp278Ter	coding	Pathogenic
15	65006334	G	A	G65006334A	MTFMT	NM_139242.4(MTFMT):c.814-143C>T	noncoding	Benign
15	65016643	T	A	T65016643A	MTFMT	NM_139242.4(MTFMT):c.722-116A>T	noncoding	Benign
15	65020224	G	A	G65020224A	MTFMT	NM_139242.4(MTFMT):c.694C>T:p.Gln232Ter	coding	Pathogenic
15	65020454	A	G	A65020454G	MTFMT	NM_139242.4(MTFMT):c.646-182T>C	noncoding	Benign
15	65021495	G	C	G65021495C	MTFMT	NM_139242.4(MTFMT):c.645+19C>G	noncoding	Benign/Likely_benign
15	65023623	T	C	T65023623C	MTFMT	NM_139242.4(MTFMT):c.542+49A>G	noncoding	Benign
15	65023738	A	G	A65023738G	MTFMT	NM_139242.4(MTFMT):c.476T>C:p.Val159Ala	coding	Benign
15	65029258	G	C	G65029258C	MTFMT	NM_139242.4(MTFMT):c.209+147C>G	noncoding	Benign
15	65029442	A	T	A65029442T	MTFMT	NM_139242.4(MTFMT):c.172T>A:p.Phe58Ile	coding	Benign
15	65029470	C	T	C65029470T	MTFMT	NM_139242.4(MTFMT):c.144G>A:p.Trp48Ter	coding	Pathogenic
15	65029587	C	T	C65029587T	MTFMT	NM_139242.4(MTFMT):c.27G>A:p.Trp9Ter	coding	Pathogenic
15	65029613	T	G	T65029613G	MTFMT	NM_139242.4(MTFMT):c.1A>C:p.Met1Leu	coding	Pathogenic
15	65077029	C	T	C65077029T	KBTBD13	NM_001101362.3(KBTBD13):c.214C>T:p.Leu72=	coding	Benign/Likely_benign
15	65077037	G	A	G65077037A	KBTBD13	NM_001101362.3(KBTBD13):c.222G>A:p.Ala74=	coding	Benign/Likely_benign
15	65077103	T	G	T65077103G	KBTBD13	NM_001101362.3(KBTBD13):c.288T>G:p.Phe96Leu	coding	Benign
15	65077108	A	T	A65077108T	KBTBD13	NM_001101362.3(KBTBD13):c.293A>T:p.Glu98Val	coding	Benign
15	65077134	G	A	G65077134A	KBTBD13	NM_001101362.3(KBTBD13):c.319G>A:p.Ala107Thr	coding	Benign
15	65077266	G	A	G65077266A	KBTBD13	NM_001101362.3(KBTBD13):c.451G>A:p.Ala151Thr	coding	Benign
15	65077314	C	G	C65077314G	KBTBD13	NM_001101362.3(KBTBD13):c.499C>G:p.Pro167Ala	coding	Benign
15	65077317	G	A	G65077317A	KBTBD13	NM_001101362.3(KBTBD13):c.502G>A:p.Gly168Ser	coding	Benign
15	65077485	G	A	G65077485A	KBTBD13	NM_001101362.3(KBTBD13):c.670G>A:p.Val224Met	coding	Benign
15	65077544	C	G	C65077544G	KBTBD13	NM_001101362.3(KBTBD13):c.729C>G:p.Ser243Arg	coding	Benign/Likely_benign
15	65077610	C	T	C65077610T	KBTBD13	NM_001101362.3(KBTBD13):c.795C>T:p.Gly265=	coding	Benign
15	65077706	C	T	C65077706T	KBTBD13	NM_001101362.3(KBTBD13):c.891C>T:p.Gly297=	coding	Benign
15	65077792	G	A	G65077792A	KBTBD13	NM_001101362.3(KBTBD13):c.977G>A:p.Arg326Gln	coding	Benign
15	65078035	A	G	A65078035G	KBTBD13	NM_001101362.3(KBTBD13):c.1220A>G:p.Asn407Ser	coding	Benign
15	65078120	C	T	C65078120T	KBTBD13	NM_001101362.3(KBTBD13):c.1305C>T:p.Ser435=	coding	Benign
15	65078124	C	G	C65078124G	KBTBD13	NM_001101362.3(KBTBD13):c.1309C>G:p.Gln437Glu	coding	Benign
15	65078173	C	T	C65078173T	KBTBD13	NM_001101362.3(KBTBD13):c.1358C>T:p.Ser453Leu	coding	Benign
15	65153556	C	A	C65153556A	CLPX	NM_006660.5(CLPX):c.1695G>T:p.Arg565=	coding	Benign
15	65154950	A	G	A65154950G	CLPX	NM_006660.5(CLPX):c.1443T>C:p.His481=	coding	Benign
15	65154995	C	T	C65154995T	CLPX	NM_006660.5(CLPX):c.1398G>A:p.Ser466=	coding	Benign
15	65155851	T	C	T65155851C	CLPX	NM_006660.5(CLPX):c.1152A>G:p.Leu384=	coding	Benign
15	65156831	C	T	C65156831T	CLPX	NM_006660.5(CLPX):c.1146+13G>A	coding	Benign
15	65158719	C	T	C65158719T	CLPX	NM_006660.5(CLPX):c.748G>A:p.Gly250Ser	coding	Benign
15	65180027	T	C	T65180027C	CLPX	NM_006660.5(CLPX):c.240+17A>G	noncoding	Benign
15	65180189	C	G	C65180189G	CLPX	NM_006660.5(CLPX):c.95G>C:p.Arg32Pro	coding	Benign
15	65624107	G	C	G65624107C	SLC24A1	NM_004727.3(SLC24A1):c.27G>C:p.Pro9=	coding	Benign
15	65624561	C	T	C65624561T	SLC24A1	NM_004727.3(SLC24A1):c.481C>T:p.Gln161Ter	coding	Pathogenic/Likely_pathogenic
15	65624611	C	T	C65624611T	SLC24A1	NM_004727.3(SLC24A1):c.531C>T:p.Tyr177=	coding	Benign
15	65624680	C	G	C65624680G	SLC24A1	NM_004727.3(SLC24A1):c.600C>G:p.Tyr200Ter	coding	Pathogenic
15	65625019	G	A	G65625019A	SLC24A1	NM_004727.3(SLC24A1):c.939G>A:p.Leu313=	coding	Benign
15	65625188	A	T	A65625188T	SLC24A1	NM_004727.3(SLC24A1):c.1108A>T:p.Lys370Ter	coding	Pathogenic
15	65625322	C	G	C65625322G	SLC24A1	NM_004727.3(SLC24A1):c.1242C>G:p.Ala414=	coding	Benign/Likely_benign
15	65625744	G	A	G65625744A	SLC24A1	NM_004727.3(SLC24A1):c.1664G>A:p.Trp555Ter	coding	Pathogenic
15	65625881	A	T	A65625881T	SLC24A1	NM_004727.3(SLC24A1):c.1801A>T:p.Lys601Ter	coding	Pathogenic
15	65638298	A	G	A65638298G	SLC24A1	NM_004727.3(SLC24A1):c.1944+117A>G	noncoding	Benign
15	65639441	T	C	T65639441C	SLC24A1	NM_004727.3(SLC24A1):c.1945-154T>C	noncoding	Benign
15	65639613	C	T	C65639613T	SLC24A1	NM_004727.3(SLC24A1):c.1963C>T:p.Arg655Ter	coding	Pathogenic
15	65642857	C	G	C65642857G	SLC24A1	NM_004727.3(SLC24A1):c.2054-1570C>G	noncoding	Benign
15	65644418	C	T	C65644418T	SLC24A1	NM_004727.3(SLC24A1):c.2054-9C>T	noncoding	Benign
15	65644533	A	G	A65644533G	SLC24A1	NM_004727.3(SLC24A1):c.2140+20A>G	noncoding	Benign
15	65644545	C	T	C65644545T	SLC24A1	NM_004727.3(SLC24A1):c.2140+32C>T	noncoding	Benign
15	65645642	C	T	C65645642T	SLC24A1	NM_004727.3(SLC24A1):c.2171C>T:p.Thr724Met	coding	Benign/Likely_benign
15	65650319	A	C	A65650319C	SLC24A1	NM_004727.3(SLC24A1):c.2233-63A>C	noncoding	Benign
15	65650368	G	A	G65650368A	SLC24A1	NM_004727.3(SLC24A1):c.2233-14G>A	noncoding	Benign
15	65650520	G	T	G65650520T	SLC24A1	NM_004727.3(SLC24A1):c.2371G>T:p.Gly791Ter	coding	Pathogenic
15	65650714	T	C	T65650714C	SLC24A1	NM_004727.3(SLC24A1):c.2565T>C:p.Asp855=	coding	Benign
15	65651555	T	C	T65651555C	SLC24A1	NM_004727.3(SLC24A1):c.2794-115T>C	noncoding	Benign
15	65651670	G	T	G65651670T	SLC24A1	NM_004727.3(SLC24A1):c.2794G>T:p.Glu932Ter	coding	Pathogenic
15	65651853	T	C	T65651853C	SLC24A1	NM_004727.3(SLC24A1):c.2883+94T>C	noncoding	Benign
15	65652706	C	G	C65652706G	SLC24A1	NM_004727.3(SLC24A1):c.2948C>G:p.Ser983Ter	coding	Pathogenic
15	65877742	A	G	A65877742G	RAB11A	NM_004663.5(RAB11A):c.237-20A>G	noncoding	Benign
15	65877790	T	C	T65877790C	RAB11A	NM_004663.5(RAB11A):c.265T>C:p.Leu89=	coding	Benign
15	65877807	T	A	T65877807A	RAB11A	NM_004663.5(RAB11A):c.282T>A:p.Ala94=	coding	Benign
15	65877819	A	T	A65877819T	RAB11A	NM_004663.5(RAB11A):c.294A>T:p.Thr98=	coding	Benign
15	65879770	G	C	G65879770C	RAB11A	NM_004663.5(RAB11A):c.511+19G>C	noncoding	Benign
15	65887763	A	C	A65887763C	RAB11A	NM_004663.5(RAB11A):c.574A>C:p.Ser192Arg	coding	Benign
15	65887780	T	G	T65887780G	RAB11A	NM_004663.5(RAB11A):c.591T>G:p.Pro197=	coding	Benign
15	66387263	G	C	G66387263C	MAP2K1	NM_002755.4(MAP2K1):c.-85G>C	noncoding	Benign
15	66387353	C	T	C66387353T	MAP2K1	NM_002755.4(MAP2K1):c.6C>T:p.Pro2=	coding	Benign/Likely_benign
15	66387455	G	C	G66387455C	MAP2K1	NM_002755.4(MAP2K1):c.80+28G>C	noncoding	Benign
15	66387460	C	G	C66387460G	MAP2K1	NM_002755.4(MAP2K1):c.80+33C>G	noncoding	Benign
15	66387460	C	T	C66387460T	MAP2K1	NM_002755.4(MAP2K1):c.80+33C>T	noncoding	Benign
15	66387481	G	C	G66387481C	MAP2K1	NM_002755.4(MAP2K1):c.80+54G>C	noncoding	Benign
15	66435095	T	C	T66435095C	MAP2K1	NM_002755.4(MAP2K1):c.149T>C:p.Leu50Pro	coding	Pathogenic
15	66435102	C	T	C66435102T	MAP2K1	NM_002755.4(MAP2K1):c.156C>T:p.Ala52=	coding	Benign/Likely_benign
15	66435116	A	T	A66435116T	MAP2K1	NM_002755.4(MAP2K1):c.170A>T:p.Lys57Met	coding	Pathogenic
15	66435222	G	C	G66435222C	MAP2K1	NM_002755.4(MAP2K1):c.276G>C:p.Leu92=	coding	Benign/Likely_benign
15	66435436	C	T	C66435436T	MAP2K1	NM_002755.4(MAP2K1):c.291+199C>T	noncoding	Benign
15	66436850	G	A	G66436850A	MAP2K1	NM_002755.4(MAP2K1):c.396G>A:p.Ala132=	coding	Benign/Likely_benign
15	66443213	C	T	C66443213T	MAP2K1	NM_002755.4(MAP2K1):c.439-67C>T	noncoding	Benign
15	66443272	G	A	G66443272A	MAP2K1	NM_002755.4(MAP2K1):c.439-8G>A	noncoding	Benign/Likely_benign
15	66443385	A	G	A66443385G	MAP2K1	NM_002755.4(MAP2K1):c.516+28A>G	noncoding	Benign
15	66443548	G	A	G66443548A	MAP2K1	NM_002755.4(MAP2K1):c.516+191G>A	noncoding	Benign
15	66481742	C	T	C66481742T	MAP2K1	NM_002755.4(MAP2K1):c.569-13C>T	noncoding	Benign
15	66481793	G	C	G66481793C	MAP2K1	NM_002755.4(MAP2K1):c.607G>C:p.Glu203Gln	coding	Pathogenic
15	66481929	G	C	G66481929C	MAP2K1	NM_002755.4(MAP2K1):c.693+50G>C	noncoding	Benign
15	66487232	C	T	C66487232T	MAP2K1	NM_002755.4(MAP2K1):c.900C>T:p.Tyr300=	coding	Benign/Likely_benign
15	66487360	C	T	C66487360T	MAP2K1	NM_002755.4(MAP2K1):c.960+68C>T	noncoding	Benign
15	66489675	C	T	C66489675T	MAP2K1	NM_002755.4(MAP2K1):c.1023-43C>T	noncoding	Benign
15	66490358	C	T	C66490358T	MAP2K1	NM_002755.4(MAP2K1):c.1069-144C>T	coding	Benign
15	66490389	C	T	C66490389T	MAP2K1	NM_002755.4(MAP2K1):c.1069-113C>T	coding	Benign
15	66490665	G	A	G66490665A	MAP2K1	NM_002755.4(MAP2K1):c.*50G>A	noncoding	Benign
15	66490923	C	A	C66490923A	MAP2K1	NM_002755.4(MAP2K1):c.*308C>A	noncoding	Benign
15	66702492	C	T	C66702492T	SMAD6	NM_005585.5(SMAD6):c.-767C>T	noncoding	Benign
15	66702985	G	A	G66702985A	SMAD6	NM_005585.5(SMAD6):c.-274G>A	noncoding	Benign
15	66703423	C	A	C66703423A	SMAD6	NM_005585.5(SMAD6):c.165C>A:p.Cys55Ter	coding	Pathogenic
15	66703475	G	T	G66703475T	SMAD6	NM_005585.5(SMAD6):c.217G>T:p.Gly73Ter	coding	Pathogenic
15	66703610	G	T	G66703610T	SMAD6	NM_005585.5(SMAD6):c.352G>T:p.Glu118Ter	coding	Pathogenic
15	66703769	G	A	G66703769A	SMAD6	NM_005585.5(SMAD6):c.511G>A:p.Glu171Lys	coding	Pathogenic
15	66703910	C	T	C66703910T	SMAD6	NM_005585.5(SMAD6):c.652C>T:p.Gln218Ter	coding	Pathogenic/Likely_pathogenic
15	66704130	C	A	C66704130A	SMAD6	NM_005585.5(SMAD6):c.817+55C>A	noncoding	Benign
15	66704188	C	T	C66704188T	SMAD6	NM_005585.5(SMAD6):c.817+113C>T	noncoding	Benign
15	66708274	A	T	A66708274T	SMAD6	NM_005585.5(SMAD6):c.818-3394A>T	noncoding	Benign
15	66708989	G	A	G66708989A	SMAD6	NM_005585.5(SMAD6):c.818-2679G>A	noncoding	Benign
15	66711503	C	T	C66711503T	SMAD6	NM_005585.5(SMAD6):c.818-165C>T	noncoding	Benign
15	66711709	G	T	G66711709T	SMAD6	NM_005585.5(SMAD6):c.859G>T:p.Glu287Ter	coding	Pathogenic
15	66711996	G	A	G66711996A	SMAD6	NM_005585.5(SMAD6):c.874+272G>A	noncoding	Benign
15	66716370	G	A	G66716370A	SMAD6	NM_005585.5(SMAD6):c.875-51G>A	noncoding	Benign
15	66716399	C	A	C66716399A	SMAD6	NM_005585.5(SMAD6):c.875-22C>A	noncoding	Benign
15	66781054	G	A	G66781054A	SMAD6	NM_005585.5(SMAD6):c.1010G>A:p.Trp337Ter	coding	Pathogenic
15	66781056	G	T	G66781056T	SMAD6	NM_005585.5(SMAD6):c.1012G>T:p.Glu338Ter	coding	Pathogenic
15	66781176	G	T	G66781176T	SMAD6	NM_005585.5(SMAD6):c.1132G>T:p.Glu378Ter	coding	Pathogenic
15	66781329	A	T	A66781329T	SMAD6	NM_005585.5(SMAD6):c.1285A>T:p.Lys429Ter	coding	Pathogenic
15	66781353	A	T	A66781353T	SMAD6	NM_005585.5(SMAD6):c.1309A>T:p.Lys437Ter	coding	Pathogenic
15	66781368	G	T	G66781368T	SMAD6	NM_005585.5(SMAD6):c.1324G>T:p.Glu442Ter	coding	Pathogenic
15	66781460	G	A	G66781460A	SMAD6	NM_005585.5(SMAD6):c.1416G>A:p.Trp472Ter	coding	Pathogenic
15	66781558	G	T	G66781558T	SMAD6	NM_005585.5(SMAD6):c.*23G>T	noncoding	Benign
15	67066155	A	G	A67066155G	SMAD3	NM_005902.4(SMAD3):c.1A>G:p.Met1Val	coding	Pathogenic
15	67066155	A	T	A67066155T	SMAD3	NM_005902.4(SMAD3):c.1A>T:p.Met1Leu	coding	Pathogenic/Likely_pathogenic
15	67066157	G	A	G67066157A	SMAD3	NM_005902.4(SMAD3):c.3G>A:p.Met1Ile	coding	Pathogenic/Likely_pathogenic
15	67066181	C	T	C67066181T	SMAD3	NM_005902.4(SMAD3):c.27C>T:p.Pro9=	coding	Benign/Likely_benign
15	67066371	G	T	G67066371T	SMAD3	NM_005902.4(SMAD3):c.206+11G>T	noncoding	Benign/Likely_benign
15	67125766	G	A	G67125766A	SMAD3	NM_005902.4(SMAD3):c.207-39129G>A	coding	Benign
15	67125867	G	A	G67125867A	SMAD3	NM_005902.4(SMAD3):c.207-39028G>A	coding	Benign
15	67125895	G	A	G67125895A	SMAD3	NM_005902.4(SMAD3):c.207-39000G>A	coding	Benign
15	67126053	A	G	A67126053G	SMAD3	NM_005902.4(SMAD3):c.207-38842A>G	noncoding	Benign
15	67137999	G	A	G67137999A	SMAD3	NM_005902.4(SMAD3):c.207-26896G>A	noncoding	Benign
15	67164884	C	T	C67164884T	SMAD3	NM_005902.4(SMAD3):c.207-11C>T	noncoding	Benign/Likely_benign
15	67164964	G	A	G67164964A	SMAD3	NM_005902.4(SMAD3):c.276G>A:p.Trp92Ter	coding	Pathogenic
15	67164969	G	A	G67164969A	SMAD3	NM_005902.4(SMAD3):c.281G>A:p.Trp94Ter	coding	Pathogenic
15	67165060	C	A	C67165060A	SMAD3	NM_005902.4(SMAD3):c.372C>A:p.Pro124=	coding	Benign/Likely_benign
15	67165069	C	A	C67165069A	SMAD3	NM_005902.4(SMAD3):c.381C>A:p.Tyr127Ter	coding	Pathogenic
15	67165070	C	T	C67165070T	SMAD3	NM_005902.4(SMAD3):c.382C>T:p.Gln128Ter	coding	Pathogenic
15	67165512	G	A	G67165512A	SMAD3	NM_005902.4(SMAD3):c.532+128G>A	noncoding	Benign
15	67166301	T	C	T67166301C	SMAD3	NM_005902.4(SMAD3):c.533-478T>C	noncoding	Benign
15	67166675	C	T	C67166675T	SMAD3	NM_005902.4(SMAD3):c.533-104C>T	noncoding	Benign
15	67181336	C	T	C67181336T	SMAD3	NM_005902.4(SMAD3):c.754C>T:p.Gln252Ter	coding	Pathogenic/Likely_pathogenic
15	67181369	C	G	C67181369G	SMAD3	NM_005902.4(SMAD3):c.787C>G:p.Pro263Ala	coding	Pathogenic
15	67181384	C	T	C67181384T	SMAD3	NM_005902.4(SMAD3):c.802C>T:p.Arg268Cys	coding	Pathogenic/Likely_pathogenic
15	67181385	G	A	G67181385A	SMAD3	NM_005902.4(SMAD3):c.803G>A:p.Arg268His	coding	Pathogenic/Likely_pathogenic
15	67184819	C	T	C67184819T	SMAD3	NM_005902.4(SMAD3):c.964C>T:p.Gln322Ter	coding	Pathogenic
15	67185112	C	T	C67185112T	SMAD3	NM_005902.4(SMAD3):c.1009+248C>T	noncoding	Benign
15	67187496	G	T	G67187496T	SMAD3	NM_005902.4(SMAD3):c.1141G>T:p.Gly381Ter	coding	Pathogenic
15	67187510	G	A	G67187510A	SMAD3	NM_005902.4(SMAD3):c.1154+1G>A	coding	Pathogenic
15	67187532	A	C	A67187532C	SMAD3	NM_005902.4(SMAD3):c.1154+23A>C	noncoding	Benign
15	67190358	A	G	A67190358G	SMAD3	NM_005902.4(SMAD3):c.1155-55A>G	noncoding	Benign
15	67190359	C	T	C67190359T	SMAD3	NM_005902.4(SMAD3):c.1155-54C>T	noncoding	Benign
15	67190475	G	A	G67190475A	SMAD3	NM_005902.4(SMAD3):c.1217G>A:p.Trp406Ter	coding	Pathogenic
15	67190532	C	G	C67190532G	SMAD3	NM_005902.4(SMAD3):c.1274C>G:p.Ser425Cys	coding	Pathogenic
15	67190837	C	T	C67190837T	SMAD3	NM_005902.4(SMAD3):c.*301C>T	noncoding	Benign/Likely_benign
15	67193662	C	T	C67193662T	SMAD3	NM_005902.4(SMAD3):c.*3126C>T	noncoding	Benign
15	67202584	T	C	T67202584C	AAGAB	NM_024666.5(AAGAB):c.*237A>G	noncoding	Benign
15	67204139	A	C	A67204139C	AAGAB	NM_024666.5(AAGAB):c.725T>G:p.Leu242Ter	coding	Pathogenic
15	67208695	G	A	G67208695A	AAGAB	NM_024666.5(AAGAB):c.619-37C>T	noncoding	Benign
15	67209254	C	T	C67209254T	AAGAB	NM_024666.5(AAGAB):c.618+208G>A	noncoding	Benign
15	67209444	T	C	T67209444C	AAGAB	NM_024666.5(AAGAB):c.618+18A>G	noncoding	Benign
15	67209514	G	C	G67209514C	AAGAB	NM_024666.5(AAGAB):c.566C>G:p.Ser189Ter	coding	Pathogenic
15	67209639	C	T	C67209639T	AAGAB	NM_024666.5(AAGAB):c.536-95G>A	noncoding	Benign
15	67226913	A	T	A67226913T	AAGAB	NM_024666.5(AAGAB):c.535+4901T>A	noncoding	Benign
15	67231547	C	T	C67231547T	AAGAB	NM_024666.5(AAGAB):c.535+267G>A	noncoding	Benign
15	67231813	C	T	C67231813T	AAGAB	NM_024666.5(AAGAB):c.535+1G>A	noncoding	Pathogenic
15	67231837	C	T	C67231837T	AAGAB	NM_024666.5(AAGAB):c.512G>A:p.Trp171Ter	coding	Pathogenic
15	67235978	C	T	C67235978T	AAGAB	NM_024666.5(AAGAB):c.451+1G>A	noncoding	Pathogenic
15	67236040	C	T	C67236040T	AAGAB	NM_024666.5(AAGAB):c.390G>A:p.Trp130Ter	coding	Pathogenic
15	67236212	C	T	C67236212T	AAGAB	NM_024666.5(AAGAB):c.362-144G>A	noncoding	Benign
15	67236597	T	C	T67236597C	AAGAB	NM_024666.5(AAGAB):c.264+33A>G	noncoding	Benign
15	67236632	G	A	G67236632A	AAGAB	NM_024666.5(AAGAB):c.262C>T:p.Gln88Ter	coding	Pathogenic
15	67236735	G	T	G67236735T	AAGAB	NM_024666.5(AAGAB):c.159C>A:p.Tyr53Ter	coding	Pathogenic
15	67236754	C	T	C67236754T	AAGAB	NM_024666.5(AAGAB):c.140G>A:p.Trp47Ter	coding	Pathogenic
15	67254558	C	A	C67254558A	AAGAB	NM_024666.5(AAGAB):c.73+1G>T	coding	Pathogenic
15	67254611	A	T	A67254611T	AAGAB	NM_024666.5(AAGAB):c.21T>A:p.Cys7Ter	coding	Pathogenic
15	67254623	A	G	A67254623G	AAGAB	NM_024666.5(AAGAB):c.9T>C:p.Ala3=	coding	Benign
15	67254963	C	A	C67254963A	AAGAB	NM_001031715.3(IQCH):c.51+16C>A	noncoding	Benign
15	68054211	T	C	T68054211C	PIAS1	Single_allele	noncoding	Benign
15	68086599	G	A	G68086599A	PIAS1	NM_016166.3(PIAS1):c.318G>A:p.Ser106=	coding	Benign
15	68141938	T	G	T68141938G	PIAS1	NM_016166.3(PIAS1):c.470-8T>G	noncoding	Benign
15	68142041	G	C	G68142041C	PIAS1	NM_016166.3(PIAS1):c.554+11G>C	noncoding	Benign
15	68146072	C	A	C68146072A	PIAS1	NM_016166.3(PIAS1):c.693+166C>A	noncoding	Benign
15	68153414	G	A	G68153414A	PIAS1	NM_016166.3(PIAS1):c.829-176G>A	noncoding	Benign
15	68153574	T	A	T68153574A	PIAS1	NM_016166.3(PIAS1):c.829-16T>A	noncoding	Benign
15	68173674	C	T	C68173674T	PIAS1	NM_016166.3(PIAS1):c.1009-58C>T	noncoding	Benign
15	68175422	G	C	G68175422C	PIAS1	NM_016166.3(PIAS1):c.1170-215G>C	noncoding	Benign
15	68175760	A	G	A68175760G	PIAS1	NM_016166.3(PIAS1):c.1293A>G:p.Gly431=	coding	Benign
15	68175786	G	A	G68175786A	PIAS1	NM_016166.3(PIAS1):c.1300+19G>A	noncoding	Benign
15	68176357	T	C	T68176357C	PIAS1	NM_016166.3(PIAS1):c.1301-117T>C	noncoding	Benign
15	68181470	G	A	G68181470A	PIAS1	NM_016166.3(PIAS1):c.1624+116G>A	noncoding	Benign
15	68181552	T	C	T68181552C	PIAS1	NM_016166.3(PIAS1):c.1624+198T>C	noncoding	Benign
15	68208102	T	C	T68208102C	CLN6	NM_017882.3(CLN6):c.*38A>G	noncoding	Benign
15	68208180	G	A	G68208180A	CLN6	NM_017882.3(CLN6):c.896C>T:p.Pro299Leu	coding	Pathogenic/Likely_pathogenic
15	68208308	G	C	G68208308C	CLN6	NM_017882.3(CLN6):c.768C>G:p.Asp256Glu	coding	Pathogenic/Likely_pathogenic
15	68211811	A	C	A68211811C	CLN6	NM_017882.3(CLN6):c.350T>G:p.Ile117Ser	coding	Pathogenic
15	68218539	G	A	G68218539A	CLN6	NM_017882.3(CLN6):c.195C>T:p.Ala65=	coding	Benign/Likely_benign
15	68218590	C	T	C68218590T	CLN6	NM_017882.3(CLN6):c.144G>A:p.Trp48Ter	coding	Pathogenic
15	68229314	A	G	A68229314G	CLN6	NM_017882.3(CLN6):c.83+188T>C	noncoding	Benign
15	68229543	G	T	G68229543T	CLN6	NM_017882.3(CLN6):c.42C>A:p.Gly14=	coding	Benign/Likely_benign
15	68229772	A	G	A68229772G	CLN6	Single_allele	noncoding	Benign
15	69417347	G	A	G69417347A	KIF23	NM_001367805.3(KIF23):c.82-36G>A	noncoding	Benign
15	69417409	C	A	C69417409A	KIF23	NM_001367805.3(KIF23):c.108C>A:p.Gly36=	coding	Benign
15	69417453	C	T	C69417453T	KIF23	NM_001367805.3(KIF23):c.152C>T:p.Thr51Ile	coding	Benign
15	69423096	G	T	G69423096T	KIF23	NM_001367805.3(KIF23):c.564-63G>T	noncoding	Benign
15	69436191	A	C	A69436191C	KIF23	NM_001367805.3(KIF23):c.1368A>C:p.Val456=	coding	Benign
15	69436610	A	G	A69436610G	KIF23	NM_001367805.3(KIF23):c.1485A>G:p.Pro495=	coding	Benign
15	69436710	T	C	T69436710C	KIF23	NM_001367805.3(KIF23):c.1585T>C:p.Phe529Leu	coding	Benign
15	69440144	G	A	G69440144A	KIF23	NM_001367805.3(KIF23):c.1929+67G>A	noncoding	Benign
15	69440397	C	T	C69440397T	KIF23	NM_001367805.3(KIF23):c.2019C>T:p.Thr673=	coding	Benign
15	69440687	G	A	G69440687A	KIF23	NM_001367805.3(KIF23):c.2110-81G>A	noncoding	Benign
15	69446315	C	G	C69446315G	KIF23	NM_001367805.3(KIF23):c.2789C>G:p.Pro930Arg	coding	Pathogenic
15	69448011	A	G	A69448011G	KIF23	NM_001367805.3(KIF23):c.*204A>G	noncoding	Benign
15	70059449	T	C	T70059449C	TLE3	NM_001105192.3(TLE3):c.726A>G:p.Gly242=	coding	Benign
15	71256661	T	A	T71256661A	THSD4	NM_024817.3(THSD4):c.961T>A:p.Tyr321Asn	coding	Pathogenic
15	71737802	C	A	C71737802A	THSD4	NM_024817.3(THSD4):c.1701C>A:p.Asn567Lys	coding	Benign
15	71748520	C	T	C71748520T	THSD4	NM_024817.3(THSD4):c.2341C>T:p.Arg781Trp	coding	Pathogenic
15	71811087	T	C	T71811087C	NR2E3	NM_014249.4(NR2E3):c.118+226T>C	noncoding	Benign
15	71811455	T	C	T71811455C	NR2E3	NM_014249.4(NR2E3):c.119-28T>C	noncoding	Benign/Likely_benign
15	71811482	G	A	G71811482A	NR2E3	NM_014249.4(NR2E3):c.119-1G>A	noncoding	Pathogenic
15	71811495	C	A	C71811495A	NR2E3	NM_014249.4(NR2E3):c.131C>A:p.Ser44Ter	coding	Pathogenic
15	71811770	C	T	C71811770T	NR2E3	NM_014249.4(NR2E3):c.250C>T:p.Gln84Ter	coding	Pathogenic
15	71811844	C	A	C71811844A	NR2E3	NM_014249.4(NR2E3):c.324C>A:p.Cys108Ter	coding	Pathogenic
15	71811978	C	T	C71811978T	NR2E3	NM_014249.4(NR2E3):c.373C>T:p.Arg125Ter	coding	Pathogenic/Likely_pathogenic
15	71812409	C	A	C71812409A	NR2E3	NM_014249.4(NR2E3):c.645C>A:p.Cys215Ter	coding	Pathogenic
15	71812601	C	T	C71812601T	NR2E3	NM_014249.4(NR2E3):c.747+90C>T	noncoding	Benign
15	71813204	A	G	A71813204G	NR2E3	NM_014249.4(NR2E3):c.748-185A>G	noncoding	Benign
15	71813484	C	G	C71813484G	NR2E3	NM_014249.4(NR2E3):c.843C>G:p.Pro281=	coding	Benign
15	71813566	C	G	C71813566G	NR2E3	NM_014249.4(NR2E3):c.925C>G:p.Arg309Gly	coding	Pathogenic
15	71813587	G	A	G71813587A	NR2E3	NM_014249.4(NR2E3):c.946G>A:p.Asp316Asn	coding	Pathogenic
15	71814059	C	T	C71814059T	NR2E3	NM_014249.4(NR2E3):c.1042C>T:p.Gln348Ter	coding	Pathogenic
15	71814065	C	T	C71814065T	NR2E3	NM_014249.4(NR2E3):c.1048C>T:p.Gln350Ter	coding	Pathogenic
15	71814132	C	T	C71814132T	NR2E3	NM_014249.4(NR2E3):c.1100+15C>T	coding	Benign
15	71817597	T	G	T71817597G	NR2E3	NM_014249.4(NR2E3):c.1146T>G:p.Thr382=	coding	Benign
15	71826436	G	C	G71826436C	MYO9A	NM_006901.4(MYO9A):c.*144C>G	noncoding	Benign
15	71827082	C	T	C71827082T	MYO9A	NM_006901.4(MYO9A):c.7184-39G>A	noncoding	Benign
15	71827228	C	T	C71827228T	MYO9A	NM_006901.4(MYO9A):c.7184-185G>A	noncoding	Benign
15	71827899	T	C	T71827899C	MYO9A	NM_006901.4(MYO9A):c.7168A>G:p.Ile2390Val	coding	Benign
15	71849304	C	T	C71849304T	MYO9A	NM_006901.4(MYO9A):c.6714-336G>A	noncoding	Benign
15	71850200	G	C	G71850200C	MYO9A	NM_006901.4(MYO9A):c.6582-33C>G	noncoding	Benign
15	71851514	A	T	A71851514T	MYO9A	NM_006901.4(MYO9A):c.6476-156T>A	noncoding	Benign
15	71852356	A	C	A71852356C	MYO9A	NM_006901.4(MYO9A):c.6347-96T>G	noncoding	Benign
15	71854574	A	T	A71854574T	MYO9A	NM_006901.4(MYO9A):c.6154-5T>A	noncoding	Benign
15	71862727	G	A	G71862727A	MYO9A	NM_006901.4(MYO9A):c.5980-116C>T	noncoding	Benign
15	71878258	T	C	T71878258C	MYO9A	NM_006901.4(MYO9A):c.5740-27A>G	noncoding	Benign
15	71878345	T	C	T71878345C	MYO9A	NM_006901.4(MYO9A):c.5740-114A>G	noncoding	Benign
15	71878421	C	A	C71878421A	MYO9A	NM_006901.4(MYO9A):c.5740-190G>T	noncoding	Benign
15	71880174	A	G	A71880174G	MYO9A	NM_006901.4(MYO9A):c.5622+161T>C	noncoding	Benign
15	71880542	G	C	G71880542C	MYO9A	NM_006901.4(MYO9A):c.5415C>G:p.His1805Gln	coding	Benign
15	71880645	C	T	C71880645T	MYO9A	NM_006901.4(MYO9A):c.5399-87G>A	noncoding	Benign
15	71880751	G	A	G71880751A	MYO9A	NM_006901.4(MYO9A):c.5399-193C>T	noncoding	Benign
15	71883981	G	A	G71883981A	MYO9A	NM_006901.4(MYO9A):c.5256-245C>T	noncoding	Benign
15	71893945	A	T	A71893945T	MYO9A	NM_006901.4(MYO9A):c.5043-167T>A	noncoding	Benign
15	71897265	C	T	C71897265T	MYO9A	NM_006901.4(MYO9A):c.5042+196G>A	noncoding	Benign
15	71897611	T	A	T71897611A	MYO9A	NM_006901.4(MYO9A):c.4892A>T:p.Asn1631Ile	coding	Benign
15	71898732	T	C	T71898732C	MYO9A	NM_006901.4(MYO9A):c.3771A>G:p.Arg1257=	coding	Benign
15	71898769	T	C	T71898769C	MYO9A	NM_006901.4(MYO9A):c.3734A>G:p.Asp1245Gly	coding	Benign
15	71898925	C	T	C71898925T	MYO9A	NM_006901.4(MYO9A):c.3578G>A:p.Gly1193Glu	coding	Benign
15	71899060	T	C	T71899060C	MYO9A	NM_006901.4(MYO9A):c.3471-28A>G	noncoding	Benign
15	71900896	A	C	A71900896C	MYO9A	NM_006901.4(MYO9A):c.3150+295T>G	noncoding	Benign
15	71901416	T	C	T71901416C	MYO9A	NM_006901.4(MYO9A):c.3001-76A>G	noncoding	Benign
15	71933937	C	T	C71933937T	MYO9A	NM_006901.4(MYO9A):c.2523-228G>A	noncoding	Benign
15	71935130	G	A	G71935130A	MYO9A	NM_006901.4(MYO9A):c.2522+211C>T	noncoding	Benign
15	71935496	A	G	A71935496G	MYO9A	NM_006901.4(MYO9A):c.2379-12T>C	noncoding	Benign
15	71960157	C	T	C71960157T	MYO9A	NM_006901.4(MYO9A):c.1987-61G>A	noncoding	Benign
15	71999774	A	G	A71999774G	MYO9A	NM_006901.4(MYO9A):c.1470+77T>C	noncoding	Benign
15	72007641	T	C	T72007641C	MYO9A	NM_006901.4(MYO9A):c.1380+185A>G	noncoding	Benign
15	72007690	A	C	A72007690C	MYO9A	NM_006901.4(MYO9A):c.1380+136T>G	noncoding	Benign
15	72008130	G	C	G72008130C	MYO9A	NM_006901.4(MYO9A):c.1254-178C>G	noncoding	Benign
15	72010326	T	C	T72010326C	MYO9A	NM_006901.4(MYO9A):c.1253+24A>G	noncoding	Benign
15	72010553	G	C	G72010553C	MYO9A	NM_006901.4(MYO9A):c.1156-106C>G	noncoding	Benign
15	72010666	G	C	G72010666C	MYO9A	NM_006901.4(MYO9A):c.1156-219C>G	noncoding	Benign
15	72032634	T	A	T72032634A	MYO9A	NM_006901.4(MYO9A):c.841-46A>T	noncoding	Benign
15	72345445	C	A	C72345445A	HEXA	NM_000520.6(HEXA):c.1526+1G>T	noncoding	Pathogenic/Likely_pathogenic
15	72345517	C	T	C72345517T	HEXA	NM_000520.6(HEXA):c.1455G>A:p.Trp485Ter	coding	Pathogenic
15	72345619	C	T	C72345619T	HEXA	NM_000520.6(HEXA):c.1422-69G>A	noncoding	Benign
15	72346050	T	C	T72346050C	HEXA	NM_000520.6(HEXA):c.1421+185A>G	noncoding	Benign
15	72346525	A	G	A72346525G	HEXA	NM_000520.6(HEXA):c.1330+2T>C	noncoding	Pathogenic
15	72346711	C	A	C72346711A	HEXA	NM_000520.6(HEXA):c.1147-1G>T	coding	Pathogenic
15	72347734	A	C	A72347734C	HEXA	NM_000520.6(HEXA):c.1098T>G:p.Tyr366Ter	coding	Pathogenic/Likely_pathogenic
15	72347852	G	T	G72347852T	HEXA	NM_000520.6(HEXA):c.1074-94C>A	noncoding	Benign
15	72347885	T	A	T72347885A	HEXA	NM_000520.6(HEXA):c.1074-127A>T	noncoding	Benign
15	72348222	C	T	C72348222T	HEXA	NM_000520.6(HEXA):c.987-88G>A	noncoding	Benign
15	72348804	C	T	C72348804T	HEXA	NM_000520.6(HEXA):c.986+275G>A	noncoding	Benign
15	72349011	C	T	C72349011T	HEXA	NM_000520.6(HEXA):c.986+68G>A	noncoding	Benign
15	72349148	A	C	A72349148C	HEXA	NM_000520.6(HEXA):c.917T>G:p.Leu306Ter	coding	Pathogenic
15	72350568	C	T	C72350568T	HEXA	NM_000520.6(HEXA):c.755G>A:p.Arg252His	coding	Pathogenic
15	72350569	G	A	G72350569A	HEXA	NM_000520.6(HEXA):c.754C>T:p.Arg252Cys	coding	Pathogenic/Likely_pathogenic
15	72351131	A	G	A72351131G	HEXA	NM_000520.6(HEXA):c.672+2T>C	noncoding	Pathogenic
15	72353011	C	T	C72353011T	HEXA	NM_000520.6(HEXA):c.570+57G>A	noncoding	Benign
15	72353067	C	T	C72353067T	HEXA	NM_000520.6(HEXA):c.570+1G>A	noncoding	Pathogenic/Likely_pathogenic
15	72353068	C	A	C72353068A	HEXA	NM_000520.6(HEXA):c.570G>T:p.Leu190=	coding	Pathogenic
15	72355693	T	G	T72355693G	HEXA	NM_000520.6(HEXA):c.347-69A>C	noncoding	Benign
15	72375590	G	T	G72375590T	HEXA	NM_000520.6(HEXA):c.253+130C>A	noncoding	Benign
15	72375829	G	C	G72375829C	HEXA	NM_000520.6(HEXA):c.144C>G:p.Tyr48Ter	coding	Pathogenic
15	72375834	G	A	G72375834A	HEXA	NM_000520.6(HEXA):c.139C>T:p.Gln47Ter	coding	Pathogenic/Likely_pathogenic
15	72474804	C	T	C72474804T	ARIH1	NM_005744.5(ARIH1):c.165C>T:p.Gly55=	coding	Benign
15	72544973	C	T	C72544973T	ARIH1	NM_005744.5(ARIH1):c.588+9C>T	noncoding	Benign
15	72555315	C	T	C72555315T	ARIH1	NM_005744.5(ARIH1):c.633C>T:p.Cys211=	coding	Benign
15	72561463	A	G	A72561463G	ARIH1	NM_005744.5(ARIH1):c.738-20A>G	noncoding	Benign
15	72561563	T	C	T72561563C	ARIH1	NM_005744.5(ARIH1):c.804+14T>C	noncoding	Benign
15	72563514	T	C	T72563514C	ARIH1	NM_005744.5(ARIH1):c.911+14T>C	noncoding	Benign
15	72580817	A	G	A72580817G	ARIH1	NM_005744.5(ARIH1):c.1302A>G:p.Leu434=	coding	Benign
15	72712274	C	T	C72712274T	BBS4	NM_033028.5(BBS4):c.187C>T:p.Gln63Ter	coding	Pathogenic
15	72722861	G	C	G72722861C	BBS4	NM_033028.5(BBS4):c.459+14G>C	noncoding	Benign
15	72724508	T	C	T72724508C	BBS4	NM_033028.5(BBS4):c.460-20T>C	noncoding	Benign
15	72727975	T	A	T72727975A	BBS4	NM_033028.5(BBS4):c.623T>A:p.Leu208Ter	coding	Pathogenic
15	72731288	C	G	C72731288G	BBS4	NM_033028.5(BBS4):c.712-17C>G	noncoding	Benign/Likely_benign
15	72731642	C	T	C72731642T	BBS4	NM_033028.5(BBS4):c.952C>T:p.Gln318Ter	coding	Pathogenic
15	72731840	G	A	G72731840A	BBS4	NM_033028.5(BBS4):c.1036+114G>A	noncoding	Benign
15	72735811	T	G	T72735811G	BBS4	NM_033028.5(BBS4):c.1107-14T>G	noncoding	Benign
15	72735968	T	C	T72735968C	BBS4	NM_033028.5(BBS4):c.1248+2T>C	noncoding	Pathogenic/Likely_pathogenic
15	72736034	G	A	G72736034A	BBS4	NM_033028.5(BBS4):c.1248+68G>A	noncoding	Benign
15	72737509	C	A	C72737509A	BBS4	NM_033028.5(BBS4):c.1482C>A:p.Pro494=	coding	Benign/Likely_benign
15	73323459	G	C	G73323459C	HCN4	NM_005477.3(HCN4):c.2634C>G:p.Ser878=	coding	Benign/Likely_benign
15	73323825	C	T	C73323825T	HCN4	NM_005477.3(HCN4):c.2268G>A:p.Ala756=	coding	Benign/Likely_benign
15	73323846	G	A	G73323846A	HCN4	NM_005477.3(HCN4):c.2247C>T:p.Asp749=	coding	Benign
15	73325115	G	A	G73325115A	HCN4	NM_005477.3(HCN4):c.1818C>T:p.Ser606=	coding	Benign/Likely_benign
15	73325193	C	G	C73325193G	HCN4	NM_005477.3(HCN4):c.1740G>C:p.Glu580Asp	coding	Pathogenic
15	73325332	C	G	C73325332G	HCN4	NM_005477.3(HCN4):c.1703G>C:p.Ser568Thr	coding	Benign/Likely_benign
15	73325379	G	A	G73325379A	HCN4	NM_005477.3(HCN4):c.1656C>T:p.His552=	coding	Benign/Likely_benign
15	73329722	A	G	A73329722G	HCN4	NM_005477.3(HCN4):c.1441T>C:p.Tyr481His	coding	Pathogenic/Likely_pathogenic
15	73343504	C	T	C73343504T	HCN4	NM_005477.3(HCN4):c.1090G>A:p.Asp364Asn	coding	Benign/Likely_benign
15	73343533	T	C	T73343533C	HCN4	NM_005477.3(HCN4):c.1061A>G:p.Tyr354Cys	coding	Pathogenic
15	73367468	A	T	A73367468T	HCN4	NM_005477.3(HCN4):c.785+18T>A	noncoding	Benign/Likely_benign
15	73367473	T	G	T73367473G	HCN4	NM_005477.3(HCN4):c.785+13A>C	noncoding	Benign/Likely_benign
15	73377552	T	C	T73377552C	LOC110121492	Single_allele	noncoding	Benign
15	73551001	T	G	T73551001G	REC114	NM_001042367.2(REC114):c.397T>G:p.Cys133Gly	coding	Pathogenic
15	73551155	G	A	G73551155A	REC114	NM_001042367.2(REC114):c.546+5G>A	noncoding	Pathogenic
15	73952269	A	G	A73952269G	LOXL1	Single_allele	noncoding	Benign
15	74036235	A	G	A74036235G	PML	NM_033238.3(PML):c.1710+1705A>G	coding	Benign
15	74180375	G	A	G74180375A	STRA6	NM_022369.4(STRA6):c.1841-132C>T	noncoding	Benign
15	74180694	C	T	C74180694T	STRA6	NM_022369.4(STRA6):c.1840+88G>A	noncoding	Benign
15	74180732	A	G	A74180732G	STRA6	NM_022369.4(STRA6):c.1840+50T>C	noncoding	Benign
15	74180770	G	A	G74180770A	STRA6	NM_022369.4(STRA6):c.1840+12C>T	noncoding	Benign/Likely_benign
15	74180961	A	G	A74180961G	STRA6	NM_022369.4(STRA6):c.1685-24T>C	noncoding	Benign
15	74181385	G	A	G74181385A	STRA6	NM_022369.4(STRA6):c.1594C>T:p.Arg532Ter	coding	Pathogenic
15	74181669	A	C	A74181669C	STRA6	NM_022369.4(STRA6):c.1521-211T>G	noncoding	Benign
15	74181742	T	C	T74181742C	STRA6	NM_022369.4(STRA6):c.1521-284A>G	noncoding	Benign
15	74183594	T	C	T74183594C	STRA6	NM_022369.4(STRA6):c.1300+262A>G	noncoding	Benign
15	74183754	C	A	C74183754A	STRA6	NM_022369.4(STRA6):c.1300+102G>T	noncoding	Benign
15	74184289	A	C	A74184289C	STRA6	NM_022369.4(STRA6):c.1167-300T>G	noncoding	Benign
15	74190656	A	G	A74190656G	STRA6	NM_022369.4(STRA6):c.927+184T>C	noncoding	Benign
15	74190679	G	T	G74190679T	STRA6	NM_022369.4(STRA6):c.927+161C>A	noncoding	Benign
15	74191074	T	C	T74191074C	STRA6	NM_022369.4(STRA6):c.865+93A>G	noncoding	Benign
15	74191605	G	A	G74191605A	STRA6	NM_022369.4(STRA6):c.721-114C>T	noncoding	Benign
15	74193741	G	A	G74193741A	STRA6	NM_022369.4(STRA6):c.720+59C>T	noncoding	Benign
15	74194103	C	T	C74194103T	STRA6	NM_022369.4(STRA6):c.598-181G>A	noncoding	Benign
15	74195505	G	A	G74195505A	STRA6	NM_022369.4(STRA6):c.431-37C>T	coding	Benign
15	74195628	A	T	A74195628T	STRA6	NM_022369.4(STRA6):c.430+24T>A	coding	Benign
15	74195804	T	C	T74195804C	STRA6	NM_022369.4(STRA6):c.407-129A>G	noncoding	Benign
15	74195897	T	C	T74195897C	STRA6	NM_022369.4(STRA6):c.406+111A>G	noncoding	Benign
15	74195911	T	C	T74195911C	STRA6	NM_022369.4(STRA6):c.406+97A>G	noncoding	Benign
15	74197072	C	T	C74197072T	STRA6	NM_022369.4(STRA6):c.266+266G>A	noncoding	Benign
15	74197542	A	G	A74197542G	STRA6	NM_022369.4(STRA6):c.181-119T>C	noncoding	Benign
15	74202047	C	T	C74202047T	STRA6	NM_022369.4(STRA6):c.113+108G>A	noncoding	Benign
15	74202605	G	T	G74202605T	STRA6	NM_022369.4(STRA6):c.-16+108C>A	coding	Benign
15	74203033	A	C	A74203033C	STRA6	NM_001142617.2(STRA6):c.-15-751T>G	coding	Benign
15	74207615	G	C	G74207615C	STRA6	NM_001142617.2(STRA6):c.-16+1185C>G	noncoding	Benign
15	74207639	C	T	C74207639T	STRA6	NM_001142617.2(STRA6):c.-16+1161G>A	noncoding	Benign
15	74207712	C	T	C74207712T	STRA6	NM_001142617.2(STRA6):c.-16+1088G>A	coding	Benign
15	74207764	G	A	G74207764A	STRA6	NM_001142617.2(STRA6):c.-16+1036C>T	coding	Benign
15	74207897	C	T	C74207897T	STRA6	NM_001142617.2(STRA6):c.-16+903G>A	coding	Benign
15	74208006	C	G	C74208006G	STRA6	NM_001142617.2(STRA6):c.-16+794G>C	coding	Benign
15	74208389	C	T	C74208389T	STRA6	NM_001142617.2(STRA6):c.-16+411G>A	noncoding	Benign
15	74338282	T	C	T74338282C	CYP11A1	NM_000781.3(CYP11A1):c.1435-179A>G	noncoding	Benign
15	74338654	G	A	G74338654A	CYP11A1	NM_000781.3(CYP11A1):c.1351C>T:p.Arg451Trp	coding	Pathogenic
15	74339943	C	G	C74339943G	CYP11A1	NM_000781.3(CYP11A1):c.991-190G>C	noncoding	Benign
15	74340021	C	T	C74340021T	CYP11A1	NM_000781.3(CYP11A1):c.991-268G>A	noncoding	Benign
15	74342764	A	G	A74342764G	CYP11A1	NM_000781.3(CYP11A1):c.990+213T>C	noncoding	Benign
15	74343924	G	A	G74343924A	CYP11A1	NM_000781.3(CYP11A1):c.694C>T:p.Arg232Ter	coding	Pathogenic
15	74345229	C	T	C74345229T	CYP11A1	NM_000781.3(CYP11A1):c.440G>A:p.Trp147Ter	coding	Pathogenic
15	74345526	A	G	A74345526G	CYP11A1	NM_000781.3(CYP11A1):c.426-283T>C	noncoding	Benign
15	74347768	C	T	C74347768T	CYP11A1	NM_000781.3(CYP11A1):c.425+132G>A	noncoding	Benign
15	74348128	C	T	C74348128T	CYP11A1	NM_000781.3(CYP11A1):c.270-73G>A	noncoding	Benign
15	74348306	G	C	G74348306C	CYP11A1	NM_000781.3(CYP11A1):c.270-251C>G	noncoding	Benign
15	74367194	A	G	A74367194G	CYP11A1	NM_000781.3(CYP11A1):c.269+123T>C	noncoding	Benign
15	74367268	G	T	G74367268T	CYP11A1	NM_000781.3(CYP11A1):c.269+49C>A	noncoding	Benign
15	74417900	G	A	G74417900A	SEMA7A	NM_003612.5(SEMA7A):c.442C>T:p.Arg148Trp	coding	Pathogenic
15	74890086	C	T	C74890086T	MPI	NM_002435.3(MPI):c.13C>T:p.Arg5Ter	coding	Pathogenic/Likely_pathogenic
15	74890670	T	A	T74890670A	MPI	NM_002435.3(MPI):c.144+16T>A	noncoding	Benign/Likely_benign
15	74890672	T	A	T74890672A	MPI	NM_002435.3(MPI):c.144+18T>A	noncoding	Benign/Likely_benign
15	74890674	T	A	T74890674A	MPI	NM_002435.3(MPI):c.144+20T>A	noncoding	Benign/Likely_benign
15	74891384	G	A	G74891384A	MPI	NM_002435.3(MPI):c.150G>A:p.Trp50Ter	coding	Pathogenic
15	74891485	C	G	C74891485G	MPI	NM_002435.3(MPI):c.251C>G:p.Ser84Ter	coding	Pathogenic
15	74891743	T	G	T74891743G	MPI	NM_002435.3(MPI):c.345+164T>G	noncoding	Benign
15	74893137	G	C	G74893137C	MPI	NM_002435.3(MPI):c.488-1G>C	noncoding	Pathogenic/Likely_pathogenic
15	74896199	C	T	C74896199T	MPI	NM_002435.3(MPI):c.718C>T:p.Gln240Ter	coding	Pathogenic
15	74897221	T	C	T74897221C	MPI	NM_002435.3(MPI):c.1053+2T>C	noncoding	Pathogenic
15	74897328	G	A	G74897328A	MPI	NM_002435.3(MPI):c.1053+109G>A	noncoding	Benign
15	75044388	A	G	A75044388G	PPCDC	NM_021823.5(PPCDC):c.234A>G:p.Ile78Met	coding	Benign
15	75347736	G	A	G75347736A	NEIL1	NM_024608.4(NEIL1):c.-23+263G>A	noncoding	Benign
15	75348082	C	T	C75348082T	NEIL1	NM_024608.4(NEIL1):c.-23+609C>T	noncoding	Benign
15	75348228	A	G	A75348228G	NEIL1	NM_024608.4(NEIL1):c.-22-656A>G	noncoding	Benign
15	75356838	C	G	C75356838G	MAN2C1	NM_006715.4(MAN2C1):c.2612G>C:p.Cys871Ser	coding	Pathogenic
15	75358562	C	T	C75358562T	MAN2C1	NM_006715.4(MAN2C1):c.2303G>A:p.Arg768Gln	coding	Pathogenic
15	75364182	C	T	C75364182T	MAN2C1	NM_006715.4(MAN2C1):c.607G>A:p.Gly203Arg	coding	Pathogenic
15	75364190	T	C	T75364190C	MAN2C1	NM_006715.4(MAN2C1):c.601-2A>G	noncoding	Pathogenic
15	75372229	A	T	A75372229T	SIN3A	NM_001145358.2(SIN3A):c.3592-20T>A	noncoding	Benign
15	75372230	A	T	A75372230T	SIN3A	NM_001145358.2(SIN3A):c.3592-21T>A	noncoding	Benign
15	75380709	G	C	G75380709C	SIN3A	NM_001145358.2(SIN3A):c.3303C>G:p.Tyr1101Ter	coding	Pathogenic/Likely_pathogenic
15	75392290	G	A	G75392290A	SIN3A	NM_001145358.2(SIN3A):c.2803C>T:p.Arg935Ter	coding	Pathogenic
15	75392834	A	C	A75392834C	SIN3A	NM_001145358.2(SIN3A):c.2278-19T>G	noncoding	Benign
15	75394805	G	A	G75394805A	SIN3A	NM_001145358.2(SIN3A):c.2152C>T:p.Arg718Ter	coding	Pathogenic
15	75396347	T	C	T75396347C	SIN3A	NM_001145358.2(SIN3A):c.2004A>G:p.Ala668=	coding	Benign
15	75396439	T	A	T75396439A	SIN3A	NM_001145358.2(SIN3A):c.1912A>T:p.Lys638Ter	coding	Pathogenic
15	75410280	G	A	G75410280A	SIN3A	NM_001145358.2(SIN3A):c.1015C>T:p.Gln339Ter	coding	Pathogenic
15	75410295	T	C	T75410295C	SIN3A	NM_001145358.2(SIN3A):c.1009-9A>G	noncoding	Pathogenic
15	75422646	C	A	C75422646A	SIN3A	NM_001145358.2(SIN3A):c.366+1G>T	noncoding	Pathogenic
15	75422664	G	A	G75422664A	SIN3A	NM_001145358.2(SIN3A):c.349C>T:p.Gln117Ter	coding	Pathogenic
15	75451348	C	A	C75451348A	SIN3A	NM_001145358.2(SIN3A):c.-34+75G>T	noncoding	Benign
15	76216617	G	C	G76216617C	ETFA	NM_000126.4(ETFA):c.964-20C>G	noncoding	Benign/Likely_benign
15	76231430	T	C	T76231430C	ETFA	NM_000126.4(ETFA):c.817-32A>G	noncoding	Benign
15	76234571	G	C	G76234571C	ETFA	NM_000126.4(ETFA):c.817-3173C>G	noncoding	Benign
15	76274435	G	A	G76274435A	ETFA	NM_000126.4(ETFA):c.793C>T:p.Gln265Ter	coding	Pathogenic
15	76283719	A	G	A76283719G	ETFA	NM_000126.4(ETFA):c.733+38T>C	noncoding	Benign
15	76286656	C	T	C76286656T	ETFA	NM_000126.4(ETFA):c.452-175G>A	noncoding	Benign
15	76287832	C	T	C76287832T	ETFA	NM_000126.4(ETFA):c.451+14G>A	noncoding	Benign/Likely_benign
15	76295733	G	T	G76295733T	ETFA	NM_000126.4(ETFA):c.44C>A:p.Ser15Ter	coding	Pathogenic
15	76295981	G	A	G76295981A	ETFA	NM_000126.4(ETFA):c.40-244C>T	noncoding	Benign
15	76381375	T	C	T76381375C	SCAPER	NM_020843.4(SCAPER):c.3705+3A>G	noncoding	Benign
15	76434124	G	T	G76434124T	SCAPER	NM_020843.4(SCAPER):c.3265C>A:p.Pro1089Thr	coding	Benign
15	76471173	C	A	C76471173A	SCAPER	NM_020843.4(SCAPER):c.3078+39G>T	noncoding	Benign
15	76665617	A	G	A76665617G	SCAPER	NM_020843.4(SCAPER):c.2645+36T>C	noncoding	Benign
15	76795444	T	C	T76795444C	SCAPER	NM_020843.4(SCAPER):c.612-4A>G	noncoding	Benign
15	76883817	T	C	T76883817C	SCAPER	NM_020843.4(SCAPER):c.1A>G:p.Met1Val	coding	Benign
15	76883859	A	T	A76883859T	SCAPER	NM_020843.4(SCAPER):c.-42T>A	noncoding	Benign
15	76995436	A	T	A76995436T	PSTPIP1	NM_003978.5(PSTPIP1):c.-138A>T	noncoding	Benign
15	76995677	G	A	G76995677A	PSTPIP1	NM_003978.5(PSTPIP1):c.36+68G>A	noncoding	Benign
15	77018004	C	G	C77018004G	PSTPIP1	NM_003978.5(PSTPIP1):c.37-144C>G	noncoding	Benign
15	77018104	C	T	C77018104T	PSTPIP1	NM_003978.5(PSTPIP1):c.37-44C>T	noncoding	Benign
15	77018177	C	T	C77018177T	PSTPIP1	NM_003978.5(PSTPIP1):c.66C>T:p.Tyr22=	coding	Benign/Likely_benign
15	77018385	T	G	T77018385G	PSTPIP1	NM_003978.5(PSTPIP1):c.138-72T>G	noncoding	Benign
15	77025643	T	A	T77025643A	PSTPIP1	NM_003978.5(PSTPIP1):c.354+39T>A	noncoding	Benign
15	77028713	G	A	G77028713A	PSTPIP1	NM_003978.5(PSTPIP1):c.516+61G>A	noncoding	Benign
15	77029621	G	A	G77029621A	PSTPIP1	NM_003978.5(PSTPIP1):c.562+47G>A	noncoding	Benign
15	77029688	C	T	C77029688T	PSTPIP1	NM_003978.5(PSTPIP1):c.562+114C>T	noncoding	Benign
15	77029690	C	T	C77029690T	PSTPIP1	NM_003978.5(PSTPIP1):c.562+116C>T	noncoding	Benign
15	77030611	C	G	C77030611G	PSTPIP1	NM_003978.5(PSTPIP1):c.642+30C>G	noncoding	Benign
15	77030668	T	C	T77030668C	PSTPIP1	NM_003978.5(PSTPIP1):c.642+87T>C	noncoding	Benign
15	77030688	C	A	C77030688A	PSTPIP1	NM_003978.5(PSTPIP1):c.642+107C>A	noncoding	Benign
15	77030889	C	G	C77030889G	PSTPIP1	NM_003978.5(PSTPIP1):c.643-291C>G	noncoding	Benign
15	77031132	G	A	G77031132A	PSTPIP1	NM_003978.5(PSTPIP1):c.643-48G>A	noncoding	Benign
15	77031319	C	T	C77031319T	PSTPIP1	NM_003978.5(PSTPIP1):c.741+41C>T	noncoding	Benign
15	77032345	C	T	C77032345T	PSTPIP1	NM_003978.5(PSTPIP1):c.789C>T:p.Ala263=	coding	Benign/Likely_benign
15	77032355	A	G	A77032355G	PSTPIP1	NM_003978.5(PSTPIP1):c.799A>G:p.Ser267Gly	coding	Benign/Likely_benign
15	77032403	C	T	C77032403T	PSTPIP1	NM_003978.5(PSTPIP1):c.838+9C>T	noncoding	Benign/Likely_benign
15	77032439	C	G	C77032439G	PSTPIP1	NM_003978.5(PSTPIP1):c.838+45C>G	noncoding	Benign
15	77032845	C	A	C77032845A	PSTPIP1	NM_003978.5(PSTPIP1):c.839-17C>A	noncoding	Benign
15	77035582	G	T	G77035582T	PSTPIP1	NM_003978.5(PSTPIP1):c.985+19G>T	noncoding	Benign
15	77035605	G	A	G77035605A	PSTPIP1	NM_003978.5(PSTPIP1):c.985+42G>A	noncoding	Benign
15	77035630	G	A	G77035630A	PSTPIP1	NM_003978.5(PSTPIP1):c.985+67G>A	noncoding	Benign
15	77035860	C	T	C77035860T	PSTPIP1	NM_003978.5(PSTPIP1):c.1044C>T:p.Ile348=	coding	Benign/Likely_benign
15	77035887	G	A	G77035887A	PSTPIP1	NM_003978.5(PSTPIP1):c.1071G>A:p.Pro357=	coding	Benign
15	77035968	C	G	C77035968G	PSTPIP1	NM_003978.5(PSTPIP1):c.1119+33C>G	noncoding	Benign
15	77036244	G	C	G77036244C	PSTPIP1	NM_003978.5(PSTPIP1):c.1119+309G>C	noncoding	Benign
15	77037025	G	A	G77037025A	PSTPIP1	NM_003978.5(PSTPIP1):c.1120-20G>A	noncoding	Benign/Likely_benign
15	77037076	A	G	A77037076G	PSTPIP1	NM_003978.5(PSTPIP1):c.1151A>G:p.Asp384Gly	coding	Benign/Likely_benign
15	77037083	G	A	G77037083A	PSTPIP1	NM_003978.5(PSTPIP1):c.1158G>A:p.Leu386=	coding	Benign/Likely_benign
15	77614803	G	A	G77614803A	LINGO1	NM_032808.7(LINGO1):c.1104C>T:p.Ser368=	coding	Benign
15	77615039	G	A	G77615039A	LINGO1	NM_032808.7(LINGO1):c.868C>T:p.Arg290Cys	coding	Pathogenic
15	77615193	C	G	C77615193G	LINGO1	NM_032808.7(LINGO1):c.714G>C:p.Leu238=	coding	Benign
15	77615433	T	C	T77615433C	LINGO1	NM_032808.7(LINGO1):c.474A>G:p.Leu158=	coding	Benign
15	77615442	G	A	G77615442A	LINGO1	NM_032808.7(LINGO1):c.465C>T:p.Ile155=	coding	Benign
15	78009007	A	T	A78009007T	TBC1D2B	NM_144572.2(TBC1D2B):c.2378T>A:p.Leu793Ter	coding	Pathogenic
15	78009090	G	C	G78009090C	TBC1D2B	NM_144572.2(TBC1D2B):c.2295C>G:p.Tyr765Ter	coding	Pathogenic
15	78012819	C	T	C78012819T	TBC1D2B	NM_144572.2(TBC1D2B):c.2270+4G>A	noncoding	Benign
15	78017948	G	A	G78017948A	TBC1D2B	NM_144572.2(TBC1D2B):c.1480C>T:p.Gln494Ter	coding	Pathogenic
15	78105013	G	T	G78105013T	CIB2	NM_006383.4(CIB2):c.*298C>A	noncoding	Benign
15	78105270	G	A	G78105270A	CIB2	NM_006383.4(CIB2):c.*41C>T	noncoding	Benign
15	78105504	T	C	T78105504C	CIB2	NM_006383.4(CIB2):c.543-172A>G	noncoding	Benign
15	78105833	C	T	C78105833T	CIB2	NM_006383.4(CIB2):c.448G>A:p.Asp150Asn	coding	Benign/Likely_benign
15	78105896	C	A	C78105896A	CIB2	NM_006383.4(CIB2):c.385G>T:p.Glu129Ter	coding	Pathogenic
15	78108993	A	C	A78108993C	CIB2	NM_006383.4(CIB2):c.346+242T>G	noncoding	Benign
15	78109100	G	C	G78109100C	CIB2	NM_006383.4(CIB2):c.346+135C>G	noncoding	Benign
15	78109198	A	C	A78109198C	CIB2	NM_006383.4(CIB2):c.346+37T>G	noncoding	Benign
15	78109198	A	T	A78109198T	CIB2	NM_006383.4(CIB2):c.346+37T>A	noncoding	Benign
15	78109200	C	G	C78109200G	CIB2	NM_006383.4(CIB2):c.346+35G>C	noncoding	Benign
15	78109271	G	A	G78109271A	CIB2	NM_006383.4(CIB2):c.310C>T:p.Arg104Ter	coding	Pathogenic
15	78109659	A	C	A78109659C	CIB2	NM_006383.4(CIB2):c.199-277T>G	noncoding	Benign
15	78109680	C	T	C78109680T	CIB2	NM_006383.4(CIB2):c.199-298G>A	noncoding	Benign
15	78110837	C	G	C78110837G	CIB2	NM_006383.4(CIB2):c.198+328G>C	noncoding	Benign
15	78110950	T	C	T78110950C	CIB2	NM_006383.4(CIB2):c.198+215A>G	noncoding	Benign
15	78111167	G	A	G78111167A	CIB2	NM_006383.4(CIB2):c.196C>T:p.Arg66Trp	coding	Pathogenic
15	78111279	T	C	T78111279C	CIB2	NM_006383.4(CIB2):c.87-3A>G	noncoding	Benign/Likely_benign
15	78131137	T	C	T78131137C	CIB2	NM_006383.4(CIB2):c.51+28A>G	noncoding	Benign
15	78131324	G	A	G78131324A	CIB2	NM_006383.4(CIB2):c.-109C>T	noncoding	Benign
15	78149232	C	G	C78149232G	IDH3A	Single_allele	noncoding	Benign
15	78149420	G	A	G78149420A	IDH3A	NM_005530.3(IDH3A):c.17G>A:p.Trp6Ter	coding	Pathogenic
15	78149427	T	C	T78149427C	IDH3A	NM_005530.3(IDH3A):c.24T>C:p.Ser8=	coding	Benign
15	78149544	T	G	T78149544G	IDH3A	NM_005530.3(IDH3A):c.27+114T>G	noncoding	Benign
15	78155209	A	G	A78155209G	IDH3A	NM_005530.3(IDH3A):c.28-4A>G	noncoding	Benign
15	78155448	C	G	C78155448G	IDH3A	NM_005530.3(IDH3A):c.90+173C>G	noncoding	Benign
15	78157406	G	C	G78157406C	IDH3A	NM_005530.3(IDH3A):c.91-142G>C	noncoding	Benign
15	78159954	C	T	C78159954T	IDH3A	NM_005530.3(IDH3A):c.175-138C>T	noncoding	Benign
15	78160380	T	C	T78160380C	IDH3A	NM_005530.3(IDH3A):c.289+174T>C	noncoding	Benign
15	78162330	C	A	C78162330A	IDH3A	NM_005530.3(IDH3A):c.574C>A:p.Arg192=	coding	Benign
15	78162453	T	C	T78162453C	IDH3A	NM_005530.3(IDH3A):c.611+86T>C	noncoding	Benign
15	78164900	A	G	A78164900G	IDH3A	NM_005530.3(IDH3A):c.780-92A>G	noncoding	Benign
15	78165084	C	T	C78165084T	IDH3A	NM_005530.3(IDH3A):c.864+8C>T	noncoding	Benign
15	78165194	G	C	G78165194C	IDH3A	NM_005530.3(IDH3A):c.864+118G>C	noncoding	Benign
15	78166140	C	T	C78166140T	IDH3A	NM_005530.3(IDH3A):c.865-10C>T	noncoding	Benign
15	78166143	T	C	T78166143C	IDH3A	NM_005530.3(IDH3A):c.865-7T>C	noncoding	Benign
15	78166296	C	T	C78166296T	IDH3A	NM_005530.3(IDH3A):c.1011C>T:p.Asp337=	coding	Benign
15	78166455	C	T	C78166455T	IDH3A	NM_005530.3(IDH3A):c.1017+153C>T	noncoding	Benign
15	78168930	A	G	A78168930G	IDH3A	NM_005530.3(IDH3A):c.1026A>G:p.Thr342=	coding	Benign
15	78168936	T	C	T78168936C	IDH3A	NM_005530.3(IDH3A):c.1032T>C:p.Asp344=	coding	Benign
15	78169115	A	G	A78169115G	IDH3A	NM_005530.3(IDH3A):c.*110A>G	noncoding	Benign
15	78466511	A	C	A78466511C	IREB2	NM_004136.4(IREB2):c.629+22A>C	noncoding	Benign
15	78471943	A	G	A78471943G	IREB2	NM_004136.4(IREB2):c.883+19A>G	noncoding	Benign
15	78487762	T	C	T78487762C	IREB2	NM_004136.4(IREB2):c.1739T>C:p.Ile580Thr	coding	Benign
15	78490677	G	A	G78490677A	IREB2	NM_004136.4(IREB2):c.2240G>A:p.Gly747Glu	coding	Benign
15	78494068	A	C	A78494068C	IREB2	NM_004136.4(IREB2):c.2472+12A>C	noncoding	Benign
15	78497146	C	T	C78497146T	IREB2	NM_004136.4(IREB2):c.2616C>T:p.Ala872=	coding	Benign
15	78497334	T	C	T78497334C	IREB2	NM_004136.4(IREB2):c.2781+23T>C	noncoding	Benign
15	78617110	T	C	T78617110C	CHRNA3	NM_000743.5(CHRNA3):c.291A>G:p.Lys97=	coding	Benign
15	78617138	G	A	G78617138A	CHRNA3	NM_000743.5(CHRNA3):c.268-5C>T	noncoding	Benign
15	78617197	G	T	G78617197T	CHRNA3	NM_000743.5(CHRNA3):c.268-64C>A	noncoding	Benign
15	78618839	T	C	T78618839C	CHRNA3	NM_000743.5(CHRNA3):c.159A>G:p.Val53=	coding	Benign
15	78618919	T	C	T78618919C	CHRNA3	NM_000743.5(CHRNA3):c.83-4A>G	noncoding	Benign
15	78625057	A	G	A78625057G	CHRNB4	NM_000750.5(CHRNB4):c.*76T>C	coding	Benign
15	79209525	T	G	T79209525G	MIR184	Single_allele	noncoding	Benign
15	79209754	G	C	G79209754C	MIR184	Single_allele	noncoding	Benign
15	79209826	G	T	G79209826T	MIR184	NR_029705.1(MIR184):n.39G>T	noncoding	Benign
15	79209844	C	T	C79209844T	MIR184	NR_029705.1(MIR184):n.57C>T	noncoding	Pathogenic
15	79209980	T	C	T79209980C	MIR184	Single_allele	noncoding	Benign
15	79210027	G	C	G79210027C	MIR184	Single_allele	noncoding	Benign
15	79889156	T	A	T79889156A	MTHFS;ST20-MTHFS	NM_006441.4(MTHFS):c.316A>T:p.Lys106Ter	coding	Pathogenic
15	80152846	G	C	G80152846C	FAH	NM_001374377.1(FAH):c.-89G>C	noncoding	Benign
15	80152877	G	A	G80152877A	FAH	NM_000137.4(FAH):c.-178G>A	noncoding	Benign/Likely_benign
15	80153092	C	T	C80153092T	FAH	NM_000137.4(FAH):c.38C>T:p.Pro13Leu	coding	Pathogenic
15	80153115	G	T	G80153115T	FAH	NM_000137.4(FAH):c.61G>T:p.Val21Phe	coding	Pathogenic
15	80157986	T	C	T80157986C	FAH	NM_000137.4(FAH):c.82-74T>C	noncoding	Benign
15	80158100	T	C	T80158100C	FAH	NM_000137.4(FAH):c.122T>C:p.Leu41Pro	coding	Pathogenic
15	80159671	C	T	C80159671T	FAH	NM_000137.4(FAH):c.193-85C>T	noncoding	Benign
15	80159796	G	A	G80159796A	FAH	NM_000137.4(FAH):c.233G>A:p.Trp78Ter	coding	Pathogenic
15	80160101	C	G	C80160101G	FAH	NM_000137.4(FAH):c.314+224C>G	noncoding	Benign
15	80160229	G	A	G80160229A	FAH	NM_000137.4(FAH):c.315-181G>A	noncoding	Benign
15	80160423	C	T	C80160423T	FAH	NM_000137.4(FAH):c.328C>T:p.Gln110Ter	coding	Pathogenic/Likely_pathogenic
15	80160544	T	G	T80160544G	FAH	NM_000137.4(FAH):c.364+85T>G	noncoding	Benign
15	80160601	G	T	G80160601T	FAH	NM_000137.4(FAH):c.364+142G>T	noncoding	Benign
15	80162253	C	A	C80162253A	FAH	NM_000137.4(FAH):c.372C>A:p.Tyr124Ter	coding	Pathogenic
15	80162336	G	A	G80162336A	FAH	NM_000137.4(FAH):c.455G>A:p.Trp152Ter	coding	Pathogenic/Likely_pathogenic
15	80162403	T	C	T80162403C	FAH	NM_000137.4(FAH):c.455+67T>C	noncoding	Benign
15	80167785	G	C	G80167785C	FAH	NM_000137.4(FAH):c.456-267G>C	noncoding	Benign
15	80168244	T	G	T80168244G	FAH	NM_000137.4(FAH):c.554-20T>G	noncoding	Benign/Likely_benign
15	80168587	G	A	G80168587A	FAH	NM_000137.4(FAH):c.606+271G>A	noncoding	Benign
15	80171973	T	C	T80171973C	FAH	NM_000137.4(FAH):c.607-176T>C	noncoding	Benign
15	80172209	G	T	G80172209T	FAH	NM_000137.4(FAH):c.667G>T:p.Glu223Ter	coding	Pathogenic
15	80172244	G	A	G80172244A	FAH	NM_000137.4(FAH):c.702G>A:p.Trp234Ter	coding	Pathogenic
15	80172327	A	G	A80172327G	FAH	NM_000137.4(FAH):c.706+79A>G	noncoding	Benign
15	80172958	G	A	G80172958A	FAH	NM_000137.4(FAH):c.707-56G>A	noncoding	Benign
15	80173028	A	T	A80173028T	FAH	NM_000137.4(FAH):c.721A>T:p.Lys241Ter	coding	Pathogenic
15	80173049	G	A	G80173049A	FAH	NM_000137.4(FAH):c.742G>A:p.Gly248Arg	coding	Pathogenic
15	80173153	A	T	A80173153T	FAH	NM_000137.4(FAH):c.837+9A>T	noncoding	Benign
15	80174721	C	T	C80174721T	FAH	NM_000137.4(FAH):c.838-295C>T	noncoding	Benign
15	80174820	A	G	A80174820G	FAH	NM_000137.4(FAH):c.838-196A>G	noncoding	Benign
15	80175247	G	C	G80175247C	FAH	NM_000137.4(FAH):c.913+156G>C	noncoding	Benign
15	80175284	G	T	G80175284T	FAH	NM_000137.4(FAH):c.913+193G>T	noncoding	Benign
15	80177698	G	A	G80177698A	FAH	NM_000137.4(FAH):c.960+115G>A	noncoding	Benign
15	80179901	T	C	T80179901C	FAH	NM_000137.4(FAH):c.961-223T>C	noncoding	Benign
15	80180107	G	A	G80180107A	FAH	NM_000137.4(FAH):c.961-17G>A	noncoding	Benign/Likely_benign
15	80180134	G	A	G80180134A	FAH	NM_000137.4(FAH):c.971G>A:p.Trp324Ter	coding	Pathogenic/Likely_pathogenic
15	80180227	T	G	T80180227G	FAH	NM_000137.4(FAH):c.1062+2T>G	noncoding	Pathogenic
15	80181040	A	G	A80181040G	FAH	NM_000137.4(FAH):c.1063-2A>G	noncoding	Pathogenic/Likely_pathogenic
15	80181272	T	C	T80181272C	FAH	NM_000137.4(FAH):c.1180+113T>C	noncoding	Benign
15	80181320	A	G	A80181320G	FAH	NM_000137.4(FAH):c.1180+161A>G	noncoding	Benign
15	80185895	C	T	C80185895T	FAH	NM_000137.4(FAH):c.1181-235C>T	noncoding	Benign
15	80185920	G	A	G80185920A	FAH	NM_000137.4(FAH):c.1181-210G>A	noncoding	Benign
15	80185926	G	A	G80185926A	FAH	NM_000137.4(FAH):c.1181-204G>A	noncoding	Benign
15	80186032	C	T	C80186032T	FAH	NM_000137.4(FAH):c.1181-98C>T	noncoding	Benign
15	80186184	T	A	T80186184A	FAH	NM_000137.4(FAH):c.1235T>A:p.Val412Glu	coding	Pathogenic
15	80451009	C	T	C80451009T	ARNT2	NM_014862.4(ARNT2):c.146+15C>T	noncoding	Benign
15	80470202	C	T	C80470202T	ARNT2	NM_014862.4(ARNT2):c.195-16C>T	noncoding	Benign
15	80470305	C	T	C80470305T	ARNT2	NM_014862.4(ARNT2):c.282C>T:p.Ser94=	coding	Benign
15	80513842	T	C	T80513842C	ARNT2	NM_014862.4(ARNT2):c.726-69T>C	noncoding	Benign
15	80513891	A	T	A80513891T	ARNT2	NM_014862.4(ARNT2):c.726-20A>T	noncoding	Benign
15	80514311	C	G	C80514311G	ARNT2	NM_014862.4(ARNT2):c.792-9C>G	noncoding	Benign
15	80551294	C	G	C80551294G	ARNT2	NM_014862.4(ARNT2):c.954+19C>G	noncoding	Benign
15	80552714	C	T	C80552714T	ARNT2	NM_014862.4(ARNT2):c.1029C>T:p.Ser343=	coding	Benign
15	80574129	T	C	T80574129C	ARNT2	NM_014862.4(ARNT2):c.1317-19T>C	noncoding	Benign
15	80575139	G	C	G80575139C	ARNT2	NM_014862.4(ARNT2):c.1513+29G>C	noncoding	Benign
15	80575188	T	C	T80575188C	ARNT2	NM_014862.4(ARNT2):c.1513+78T>C	noncoding	Benign
15	80581301	C	G	C80581301G	ARNT2	NM_014862.4(ARNT2):c.1815C>G:p.Thr605=	coding	Benign
15	80581422	G	A	G80581422A	ARNT2	NM_014862.4(ARNT2):c.1918+18G>A	noncoding	Benign
15	80591684	G	A	G80591684A	ARNT2	NM_014862.4(ARNT2):c.2035G>A:p.Gly679Ser	coding	Benign
15	80874051	G	C	G80874051C	CEMIP	NM_001293298.2(CEMIP):c.94+78G>C	noncoding	Benign
15	80874141	G	A	G80874141A	CEMIP	NM_001293298.2(CEMIP):c.94+168G>A	noncoding	Benign
15	80878590	G	A	G80878590A	CEMIP	NM_001293298.2(CEMIP):c.95-131G>A	noncoding	Benign
15	80879572	A	G	A80879572G	CEMIP	NM_001293298.2(CEMIP):c.242-144A>G	noncoding	Benign
15	80879707	C	T	C80879707T	CEMIP	NM_001293298.2(CEMIP):c.242-9C>T	noncoding	Benign
15	80880627	A	G	A80880627G	CEMIP	NM_001293298.2(CEMIP):c.381-273A>G	noncoding	Benign
15	80884380	C	G	C80884380G	CEMIP	NM_001293298.2(CEMIP):c.797+26C>G	noncoding	Benign
15	80887535	G	A	G80887535A	CEMIP	NM_001293298.2(CEMIP):c.798-159G>A	noncoding	Benign
15	80887585	G	T	G80887585T	CEMIP	NM_001293298.2(CEMIP):c.798-109G>T	noncoding	Benign
15	80887607	C	T	C80887607T	CEMIP	NM_001293298.2(CEMIP):c.798-87C>T	noncoding	Benign
15	80888640	G	A	G80888640A	CEMIP	NM_001293298.2(CEMIP):c.869-61G>A	noncoding	Benign
15	80889052	C	T	C80889052T	CEMIP	NM_001293298.2(CEMIP):c.964+256C>T	noncoding	Benign
15	80889674	T	A	T80889674A	CEMIP	NM_001293298.2(CEMIP):c.1086+82T>A	noncoding	Benign
15	80894751	G	A	G80894751A	CEMIP	NM_001293298.2(CEMIP):c.1087-239G>A	noncoding	Benign
15	80906587	G	A	G80906587A	CEMIP	NM_001293298.2(CEMIP):c.1412-76G>A	noncoding	Benign
15	80906895	A	G	A80906895G	CEMIP	NM_001293298.2(CEMIP):c.1587+57A>G	noncoding	Benign
15	80906917	G	A	G80906917A	CEMIP	NM_001293298.2(CEMIP):c.1587+79G>A	noncoding	Benign
15	80909408	T	C	T80909408C	CEMIP	NM_001293298.2(CEMIP):c.1797+102T>C	noncoding	Benign
15	80920180	T	C	T80920180C	CEMIP	NM_001293298.2(CEMIP):c.1884T>C:p.Cys628=	coding	Benign
15	80920267	G	A	G80920267A	CEMIP	NM_001293298.2(CEMIP):c.1971G>A:p.Pro657=	coding	Benign
15	80921937	G	A	G80921937A	CEMIP	NM_001293298.2(CEMIP):c.2074-72G>A	noncoding	Benign
15	80922270	A	C	A80922270C	CEMIP	NM_001293298.2(CEMIP):c.2202+133A>C	noncoding	Benign
15	80924478	G	T	G80924478T	CEMIP	NM_001293298.2(CEMIP):c.2203-143G>T	noncoding	Benign
15	80925507	C	T	C80925507T	CEMIP	NM_001293298.2(CEMIP):c.2289-117C>T	noncoding	Benign
15	80925950	A	G	A80925950G	CEMIP	NM_001293298.2(CEMIP):c.2420+195A>G	noncoding	Benign
15	80925965	T	C	T80925965C	CEMIP	NM_001293298.2(CEMIP):c.2420+210T>C	noncoding	Benign
15	80929151	C	T	C80929151T	CEMIP	NM_001293298.2(CEMIP):c.2589C>T:p.Ser863=	coding	Benign
15	80929430	T	C	T80929430C	CEMIP	NM_001293298.2(CEMIP):c.2612+256T>C	noncoding	Benign
15	80937093	C	T	C80937093T	CEMIP	NM_001293298.2(CEMIP):c.3221+208C>T	noncoding	Benign
15	80937569	G	A	G80937569A	CEMIP	NM_001293298.2(CEMIP):c.3222-225G>A	noncoding	Benign
15	80937609	T	C	T80937609C	CEMIP	NM_001293298.2(CEMIP):c.3222-185T>C	noncoding	Benign
15	80942400	C	G	C80942400G	CEMIP	NM_001293298.2(CEMIP):c.3699+63C>G	noncoding	Benign
15	80942493	C	T	C80942493T	CEMIP	NM_001293298.2(CEMIP):c.3699+156C>T	noncoding	Benign
15	80946655	C	T	C80946655T	CEMIP	NM_001293298.2(CEMIP):c.3858-310C>T	noncoding	Benign
15	80946757	T	C	T80946757C	CEMIP	NM_001293298.2(CEMIP):c.3858-208T>C	noncoding	Benign
15	80947286	C	T	C80947286T	CEMIP	NM_001293298.2(CEMIP):c.3958+221C>T	noncoding	Benign
15	80947371	A	G	A80947371G	CEMIP	NM_001293298.2(CEMIP):c.3958+306A>G	coding	Benign
15	80948476	A	G	A80948476G	CEMIP	NM_001293298.2(CEMIP):c.3959-321A>G	coding	Benign
15	80948720	T	C	T80948720C	CEMIP	NM_001293298.2(CEMIP):c.3959-77T>C	coding	Benign
15	80989559	G	A	G80989559A	MESD	NM_015154.3(MESD):c.213+20C>T	noncoding	Benign
15	80989781	G	A	G80989781A	MESD	NM_015154.3(MESD):c.11C>T:p.Ser4Phe	coding	Benign
15	81309441	T	C	T81309441C	IL16	NM_172217.5(IL16):c.*643T>C	noncoding	Benign
15	82130531	T	C	T82130531C	EFL1	NM_024580.6(EFL1):c.3205A>G:p.Thr1069Ala	coding	Pathogenic
15	82138878	A	G	A82138878G	EFL1	NM_024580.6(EFL1):c.2990-36T>C	noncoding	Benign
15	82151483	C	T	C82151483T	EFL1	NM_024580.6(EFL1):c.2971G>A:p.Ala991Thr	coding	Benign
15	82151598	G	A	G82151598A	EFL1	NM_024580.6(EFL1):c.2856C>T:p.Asp952=	coding	Benign
15	82151807	A	C	A82151807C	EFL1	NM_024580.6(EFL1):c.2647T>G:p.Cys883Gly	coding	Pathogenic
15	82152096	A	G	A82152096G	EFL1	NM_024580.6(EFL1):c.2358T>C:p.Gly786=	coding	Benign
15	82152194	G	A	G82152194A	EFL1	NM_024580.6(EFL1):c.2260C>T:p.Arg754Ter	coding	Pathogenic
15	82152322	T	C	T82152322C	EFL1	NM_024580.6(EFL1):c.2132A>G:p.Lys711Arg	coding	Benign
15	82157693	C	T	C82157693T	EFL1	NM_024580.6(EFL1):c.2030+20G>A	noncoding	Benign
15	82157781	C	T	C82157781T	EFL1	NM_024580.6(EFL1):c.1962G>A:p.Thr654=	coding	Benign
15	82163886	T	C	T82163886C	EFL1	NM_024580.6(EFL1):c.1849A>G:p.Ile617Val	coding	Benign
15	82163899	G	A	G82163899A	EFL1	NM_024580.6(EFL1):c.1836C>T:p.Phe612=	coding	Benign
15	82164000	A	C	A82164000C	EFL1	NM_024580.6(EFL1):c.1751-16T>G	noncoding	Benign
15	82219749	A	G	A82219749G	EFL1	NM_024580.6(EFL1):c.1514T>C:p.Phe505Ser	coding	Pathogenic
15	82219777	G	A	G82219777A	EFL1	NM_024580.6(EFL1):c.1486C>T:p.Leu496Phe	coding	Benign
15	82220088	C	G	C82220088G	EFL1	NM_024580.6(EFL1):c.1434G>C:p.Glu478Asp	coding	Benign
15	82225273	A	G	A82225273G	EFL1	NM_024580.6(EFL1):c.1193-9T>C	noncoding	Benign
15	82227579	T	C	T82227579C	EFL1	NM_024580.6(EFL1):c.1070-7A>G	noncoding	Benign
15	82230908	T	A	T82230908A	EFL1	NM_024580.6(EFL1):c.795A>T:p.Lys265Asn	coding	Benign
15	82238289	A	G	A82238289G	EFL1	NM_024580.6(EFL1):c.731+18T>C	noncoding	Benign
15	82241333	G	A	G82241333A	EFL1	NM_024580.6(EFL1):c.315C>T:p.Thr105=	coding	Benign
15	82241342	T	G	T82241342G	EFL1	NM_024580.6(EFL1):c.306A>C:p.Glu102Asp	coding	Benign
15	82241345	T	G	T82241345G	EFL1	NM_024580.6(EFL1):c.303A>C:p.Ser101=	coding	Benign
15	82252757	T	C	T82252757C	EFL1	NM_024580.6(EFL1):c.178A>G:p.Arg60Gly	coding	Benign
15	82261690	T	C	T82261690C	EFL1	NM_024580.6(EFL1):c.89A>G:p.His30Arg	coding	Pathogenic
15	82538226	C	T	C82538226T	RPS17	NM_001021.6(RPS17):c.327+80G>A	noncoding	Benign
15	82540294	G	C	G82540294C	RPS17	NM_001021.6(RPS17):c.3+132C>G	coding	Benign
15	82540428	T	C	T82540428C	RPS17	NM_001021.6(RPS17):c.1A>G:p.Met1Val	coding	Pathogenic
15	82540460	G	A	G82540460A	RPS17	NC_000015.10:g.82540460G>A	noncoding	Benign
15	82540482	A	T	A82540482T	RPS17	Single_allele	noncoding	Benign
15	82662865	C	T	C82662865T	AP3B2	NM_001278512.2(AP3B2):c.2662G>A:p.Glu888Lys	coding	Benign
15	82663216	G	A	G82663216A	AP3B2	NM_001278512.2(AP3B2):c.2515C>T:p.Gln839Ter	coding	Pathogenic
15	82663547	C	T	C82663547T	AP3B2	NM_001278512.2(AP3B2):c.2497+13G>A	noncoding	Benign
15	82663948	C	T	C82663948T	AP3B2	NM_001278512.2(AP3B2):c.2289G>A:p.Arg763=	coding	Benign
15	82664502	C	A	C82664502A	AP3B2	NM_001278512.2(AP3B2):c.2138-12G>T	noncoding	Benign
15	82665493	C	T	C82665493T	AP3B2	NM_001278512.2(AP3B2):c.1935G>A:p.Pro645=	coding	Benign
15	82665593	G	A	G82665593A	AP3B2	NM_001278512.2(AP3B2):c.1853-18C>T	noncoding	Benign
15	82680587	G	A	G82680587A	AP3B2	NM_001278512.2(AP3B2):c.940C>T:p.Gln314Ter	coding	Pathogenic
15	82680701	C	A	C82680701A	AP3B2	NM_001278512.2(AP3B2):c.826G>T:p.Glu276Ter	coding	Pathogenic
15	82680772	A	T	A82680772T	AP3B2	NM_001278512.2(AP3B2):c.772-17T>A	noncoding	Benign
15	82689191	C	T	C82689191T	AP3B2	NM_001278512.2(AP3B2):c.231G>A:p.Ala77=	coding	Benign/Likely_benign
15	82689245	G	A	G82689245A	AP3B2	NM_001278512.2(AP3B2):c.190-13C>T	noncoding	Benign
15	82699853	G	A	G82699853A	AP3B2	NM_001278512.2(AP3B2):c.113+9741C>T	noncoding	Benign
15	82709614	G	A	G82709614A	AP3B2	NM_001278512.2(AP3B2):c.93C>T:p.Ile31=	coding	Benign
15	82709674	C	G	C82709674G	AP3B2	NM_001278512.2(AP3B2):c.33G>C:p.Lys11Asn	coding	Benign
15	82709682	C	A	C82709682A	AP3B2	NM_001278512.2(AP3B2):c.25G>T:p.Glu9Ter	coding	Pathogenic
15	82851201	T	C	T82851201C	HOMER2	NM_004839.4(HOMER2):c.793A>G:p.Ile265Val	coding	Benign/Likely_benign
15	82851476	A	G	A82851476G	HOMER2	NM_004839.4(HOMER2):c.763-245T>C	noncoding	Benign
15	82851830	G	A	G82851830A	HOMER2	NM_004839.4(HOMER2):c.762+312C>T	noncoding	Benign
15	82852284	C	T	C82852284T	HOMER2	NM_004839.4(HOMER2):c.652-32G>A	noncoding	Benign
15	82854411	A	G	A82854411G	HOMER2	NM_004839.4(HOMER2):c.651+233T>C	noncoding	Benign
15	82854616	C	G	C82854616G	HOMER2	NM_004839.4(HOMER2):c.651+28G>C	noncoding	Benign
15	82854657	C	T	C82854657T	HOMER2	NM_004839.4(HOMER2):c.638G>A:p.Arg213Gln	coding	Benign/Likely_benign
15	82854756	C	T	C82854756T	HOMER2	NM_004839.4(HOMER2):c.539G>A:p.Arg180Gln	coding	Benign/Likely_benign
15	82854814	A	T	A82854814T	HOMER2	NM_004839.4(HOMER2):c.495-14T>A	noncoding	Benign/Likely_benign
15	82854820	G	A	G82854820A	HOMER2	NM_004839.4(HOMER2):c.495-20C>T	noncoding	Benign
15	82858810	T	A	T82858810A	HOMER2	NM_004839.4(HOMER2):c.494+219A>T	noncoding	Benign
15	82859160	C	T	C82859160T	HOMER2	NM_004839.4(HOMER2):c.388-25G>A	coding	Benign
15	82859196	T	C	T82859196C	HOMER2	NM_004839.4(HOMER2):c.388-61A>G	noncoding	Benign
15	82864191	G	A	G82864191A	HOMER2	NM_004839.4(HOMER2):c.363C>T:p.Ile121=	coding	Benign/Likely_benign
15	82864196	T	C	T82864196C	HOMER2	NM_004839.4(HOMER2):c.358A>G:p.Lys120Glu	coding	Benign
15	82874954	A	G	A82874954G	HOMER2	NM_004839.4(HOMER2):c.294+319T>C	noncoding	Benign
15	82875096	C	A	C82875096A	HOMER2	NM_004839.4(HOMER2):c.294+177G>T	noncoding	Benign
15	82875206	C	T	C82875206T	HOMER2	NM_004839.4(HOMER2):c.294+67G>A	noncoding	Benign
15	82875333	G	A	G82875333A	HOMER2	NM_004839.4(HOMER2):c.234C>T:p.Ala78=	coding	Benign/Likely_benign
15	82875425	G	A	G82875425A	HOMER2	NM_004839.4(HOMER2):c.163-21C>T	noncoding	Benign
15	82892390	T	C	T82892390C	HOMER2	NM_004839.4(HOMER2):c.162+295A>G	noncoding	Benign
15	82892543	G	A	G82892543A	HOMER2	NM_004839.4(HOMER2):c.162+142C>T	noncoding	Benign
15	82892854	A	G	A82892854G	HOMER2	NM_004839.4(HOMER2):c.6-13T>C	noncoding	Benign
15	82952386	C	T	C82952386T	HOMER2	NM_004839.4(HOMER2):c.5+145G>A	noncoding	Benign
15	82952437	C	A	C82952437A	HOMER2	NM_004839.4(HOMER2):c.5+94G>T	noncoding	Benign
15	82952469	G	C	G82952469C	HOMER2	NM_004839.4(HOMER2):c.5+62C>G	noncoding	Benign
15	83655689	G	A	G83655689A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.-33-40G>A	noncoding	Benign
15	83704176	G	A	G83704176A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.70-213G>A	noncoding	Benign
15	83704618	G	A	G83704618A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.189+110G>A	noncoding	Benign
15	83773520	T	C	T83773520C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.190-3T>C	noncoding	Benign
15	83804411	T	C	T83804411C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.318-239T>C	noncoding	Benign
15	83804753	A	G	A83804753G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.363+58A>G	noncoding	Benign
15	83804779	G	A	G83804779A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.363+84G>A	noncoding	Benign
15	83819777	T	C	T83819777C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.364-34T>C	noncoding	Benign
15	83819884	A	G	A83819884G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.437A>G:p.His146Arg	coding	Benign
15	83820297	C	G	C83820297G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.600+250C>G	noncoding	Benign
15	83837818	A	G	A83837818G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.601-271A>G	noncoding	Benign
15	83838005	C	A	C83838005A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.601-84C>A	noncoding	Benign
15	83838323	C	T	C83838323T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.727+108C>T	noncoding	Benign
15	83838436	G	A	G83838436A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.727+221G>A	noncoding	Benign
15	83870503	T	C	T83870503C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.803-299T>C	noncoding	Benign
15	83870527	A	G	A83870527G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.803-275A>G	noncoding	Benign
15	83870668	G	T	G83870668T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.803-134G>T	noncoding	Benign
15	83870672	G	T	G83870672T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.803-130G>T	noncoding	Benign
15	83870724	T	C	T83870724C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.803-78T>C	noncoding	Benign
15	83870867	C	G	C83870867G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.868C>G:p.Leu290Val	coding	Benign
15	83884806	G	A	G83884806A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.961-295G>A	noncoding	Benign
15	83884871	T	A	T83884871A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.961-230T>A	noncoding	Benign
15	83884890	G	A	G83884890A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.961-211G>A	noncoding	Benign
15	83885260	A	G	A83885260G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1072+48A>G	noncoding	Benign
15	83885266	G	C	G83885266C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1072+54G>C	noncoding	Benign
15	83885365	A	G	A83885365G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1072+153A>G	noncoding	Benign
15	83885449	A	C	A83885449C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1072+237A>C	noncoding	Benign
15	83885524	C	A	C83885524A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1072+312C>A	noncoding	Benign
15	83885524	C	T	C83885524T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1072+312C>T	noncoding	Benign
15	83889901	A	G	A83889901G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1073-208A>G	noncoding	Benign
15	83889924	A	G	A83889924G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1073-185A>G	noncoding	Benign
15	83889949	T	C	T83889949C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1073-160T>C	noncoding	Benign
15	83890056	A	C	A83890056C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1073-53A>C	noncoding	Benign
15	83891630	G	A	G83891630A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1262+251G>A	noncoding	Benign
15	83893127	C	T	C83893127T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1467+239C>T	noncoding	Benign
15	83897641	G	A	G83897641A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1468-217G>A	noncoding	Benign
15	83897692	T	C	T83897692C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1468-166T>C	noncoding	Benign
15	83897776	G	C	G83897776C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1468-82G>C	noncoding	Benign
15	83897792	C	T	C83897792T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1468-66C>T	noncoding	Benign
15	83899406	T	A	T83899406A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1616-241T>A	noncoding	Benign
15	83899752	A	G	A83899752G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1700+21A>G	noncoding	Benign
15	83912853	G	A	G83912853A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1701-239G>A	noncoding	Benign
15	83913137	G	A	G83913137A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1746G>A:p.Pro582=	coding	Benign
15	83913152	T	C	T83913152C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1761T>C:p.Arg587=	coding	Benign
15	83913372	G	T	G83913372T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1981G>T:p.Val661Leu	coding	Benign
15	83913552	G	T	G83913552T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1987+174G>T	noncoding	Benign
15	83923610	T	A	T83923610A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1988-294T>A	noncoding	Benign
15	83924226	C	T	C83924226T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.2117+193C>T	noncoding	Benign
15	83942615	G	C	G83942615C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.2137G>C:p.Gly713Arg	coding	Benign
15	83942878	G	A	G83942878A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.2311-25G>A	noncoding	Benign
15	83943104	A	G	A83943104G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.2490+22A>G	noncoding	Benign
15	83970224	G	A	G83970224A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.2491-260G>A	noncoding	Benign
15	83970598	C	T	C83970598T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.2605C>T:p.Leu869Phe	coding	Benign
15	83982238	G	T	G83982238T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.2645-35G>T	noncoding	Benign
15	83982433	C	A	C83982433A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.2805C>A:p.Pro935=	coding	Benign
15	83982538	T	C	T83982538C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.2910T>C:p.His970=	coding	Benign
15	83982979	G	A	G83982979A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.3351G>A:p.Ala1117=	coding	Benign
15	83988891	T	A	T83988891A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.3844+73T>A	noncoding	Benign
15	83988895	T	A	T83988895A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.3844+77T>A	noncoding	Benign
15	83991504	C	G	C83991504G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.3973+290C>G	noncoding	Benign
15	84014339	T	C	T84014339C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.3974-203T>C	noncoding	Benign
15	84014676	A	G	A84014676G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.4108A>G:p.Thr1370Ala	coding	Benign
15	84014775	A	G	A84014775G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.4156+51A>G	noncoding	Benign
15	84014782	C	T	C84014782T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.4156+58C>T	noncoding	Benign
15	84016127	C	A	C84016127A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.4157-256C>A	noncoding	Benign
15	84021209	G	A	G84021209A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.4274-201G>A	noncoding	Benign
15	84036653	T	C	T84036653C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.4755-120T>C	noncoding	Benign
15	84036674	G	A	G84036674A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.4755-99G>A	noncoding	Benign
15	84037445	C	T	C84037445T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.4970-255C>T	noncoding	Benign
15	84037709	C	T	C84037709T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.4979C>T:p.Thr1660Ile	coding	Benign
15	84643298	T	A	T84643298A	WDR73	NM_032856.5(WDR73):c.*172A>T	noncoding	Benign
15	84643346	C	T	C84643346T	WDR73	NM_032856.5(WDR73):c.*124G>A	noncoding	Benign
15	84643406	G	C	G84643406C	WDR73	NM_032856.5(WDR73):c.*64C>G	noncoding	Benign
15	84643606	T	C	T84643606C	WDR73	NM_032856.5(WDR73):c.1001A>G:p.Asp334Gly	coding	Benign
15	84643921	T	C	T84643921C	WDR73	NM_032856.5(WDR73):c.884-198A>G	noncoding	Benign
15	84645544	G	A	G84645544A	WDR73	NM_032856.5(WDR73):c.810C>T:p.Ser270=	coding	Benign
15	84645608	C	T	C84645608T	WDR73	NM_032856.5(WDR73):c.746G>A:p.Arg249His	coding	Benign
15	84646233	T	G	T84646233G	WDR73	NM_032856.5(WDR73):c.468A>C:p.Arg156=	coding	Benign
15	84648043	C	G	C84648043G	WDR73	NM_032856.5(WDR73):c.288-89G>C	noncoding	Benign
15	84652428	T	C	T84652428C	WDR73	NM_032856.5(WDR73):c.198+286A>G	noncoding	Benign
15	84654022	T	C	T84654022C	WDR73	NM_032856.5(WDR73):c.41+212A>G	coding	Benign
15	84654285	G	A	G84654285A	WDR73	Single_allele	noncoding	Benign
15	84785121	C	T	C84785121T	ZNF592	NM_014630.3(ZNF592):c.2220+226C>T	noncoding	Benign
15	84791101	G	A	G84791101A	ZNF592	NM_014630.3(ZNF592):c.2399+218G>A	noncoding	Benign
15	84816855	G	A	G84816855A	ALPK3	NM_020778.4(ALPK3):c.9G>A:p.Val3=	coding	Benign/Likely_benign
15	84817021	C	G	C84817021G	ALPK3	NM_020778.4(ALPK3):c.175C>G:p.Arg59Gly	coding	Benign
15	84817088	C	T	C84817088T	ALPK3	NM_020778.4(ALPK3):c.242C>T	coding	Benign
15	84817575	C	T	C84817575T	ALPK3	NM_020778.5(ALPK3):c.123C>T:p.Leu41=	coding	Benign/Likely_benign
15	84817587	C	T	C84817587T	ALPK3	NM_020778.5(ALPK3):c.135C>T:p.Pro45=	coding	Benign/Likely_benign
15	84823344	G	A	G84823344A	ALPK3	NM_020778.5(ALPK3):c.158G>A:p.Arg53Gln	coding	Benign
15	84823377	A	G	A84823377G	ALPK3	NM_020778.5(ALPK3):c.182+9A>G	noncoding	Benign
15	84827580	C	T	C84827580T	ALPK3	NM_020778.5(ALPK3):c.279C>T:p.Asp93=	coding	Benign
15	84839076	G	A	G84839076A	ALPK3	NM_020778.5(ALPK3):c.401G>A:p.Arg134His	coding	Benign/Likely_benign
15	84839087	C	T	C84839087T	ALPK3	NM_020778.5(ALPK3):c.412C>T:p.Gln138Ter	coding	Pathogenic/Likely_pathogenic
15	84839706	C	T	C84839706T	ALPK3	NM_020778.5(ALPK3):c.427C>T:p.Arg143Ter	coding	Pathogenic
15	84839843	G	A	G84839843A	ALPK3	NM_020778.5(ALPK3):c.564G>A:p.Lys188=	coding	Benign/Likely_benign
15	84839868	G	T	G84839868T	ALPK3	NM_020778.5(ALPK3):c.589G>T:p.Glu197Ter	coding	Pathogenic
15	84839943	C	T	C84839943T	ALPK3	NM_020778.5(ALPK3):c.664C>T:p.Gln222Ter	coding	Pathogenic
15	84839955	C	T	C84839955T	ALPK3	NM_020778.5(ALPK3):c.676C>T:p.Arg226Ter	coding	Pathogenic
15	84839959	T	A	T84839959A	ALPK3	NM_020778.5(ALPK3):c.680T>A:p.Leu227Ter	coding	Pathogenic/Likely_pathogenic
15	84840029	G	A	G84840029A	ALPK3	NM_020778.5(ALPK3):c.750G>A:p.Trp250Ter	coding	Pathogenic
15	84840114	G	T	G84840114T	ALPK3	NM_020778.5(ALPK3):c.835G>T:p.Glu279Ter	coding	Pathogenic/Likely_pathogenic
15	84840161	A	G	A84840161G	ALPK3	NM_020778.5(ALPK3):c.882A>G:p.Thr294=	coding	Benign/Likely_benign
15	84840192	C	T	C84840192T	ALPK3	NM_020778.5(ALPK3):c.913C>T:p.Gln305Ter	coding	Pathogenic
15	84840372	C	T	C84840372T	ALPK3	NM_020778.5(ALPK3):c.1093C>T:p.Gln365Ter	coding	Pathogenic/Likely_pathogenic
15	84840615	C	A	C84840615A	ALPK3	NM_020778.5(ALPK3):c.1336C>A:p.Pro446Thr	coding	Benign/Likely_benign
15	84856311	C	T	C84856311T	ALPK3	NM_020778.5(ALPK3):c.1654-81C>T	noncoding	Benign
15	84856475	C	T	C84856475T	ALPK3	NM_020778.5(ALPK3):c.1737C>T:p.Ser579=	coding	Benign/Likely_benign
15	84856542	C	T	C84856542T	ALPK3	NM_020778.5(ALPK3):c.1804C>T:p.Gln602Ter	coding	Pathogenic
15	84856638	C	T	C84856638T	ALPK3	NM_020778.5(ALPK3):c.1900C>T:p.Arg634Cys	coding	Benign
15	84856869	C	T	C84856869T	ALPK3	NM_020778.5(ALPK3):c.2131C>T:p.Gln711Ter	coding	Pathogenic
15	84856919	G	C	G84856919C	ALPK3	NM_020778.5(ALPK3):c.2181G>C:p.Glu727Asp	coding	Benign/Likely_benign
15	84856956	A	T	A84856956T	ALPK3	NM_020778.5(ALPK3):c.2218A>T:p.Lys740Ter	coding	Pathogenic
15	84857000	A	G	A84857000G	ALPK3	NM_020778.5(ALPK3):c.2262A>G:p.Glu754=	coding	Benign/Likely_benign
15	84857207	A	G	A84857207G	ALPK3	NM_020778.5(ALPK3):c.2469A>G:p.Ser823=	coding	Benign/Likely_benign
15	84857274	G	T	G84857274T	ALPK3	NM_020778.5(ALPK3):c.2536G>T:p.Gly846Ter	coding	Pathogenic
15	84857913	C	T	C84857913T	ALPK3	NM_020778.5(ALPK3):c.3175C>T:p.Arg1059Ter	coding	Pathogenic
15	84857969	C	T	C84857969T	ALPK3	NM_020778.5(ALPK3):c.3231C>T:p.Asp1077=	coding	Benign/Likely_benign
15	84858030	G	T	G84858030T	ALPK3	NM_020778.5(ALPK3):c.3292G>T:p.Glu1098Ter	coding	Pathogenic
15	84858053	C	T	C84858053T	ALPK3	NM_020778.5(ALPK3):c.3315C>T:p.Ala1105=	coding	Benign/Likely_benign
15	84858078	C	T	C84858078T	ALPK3	NM_020778.5(ALPK3):c.3340C>T:p.Arg1114Ter	coding	Pathogenic
15	84858091	C	T	C84858091T	ALPK3	NM_020778.5(ALPK3):c.3353C>T:p.Ala1118Val	coding	Benign
15	84858362	A	G	A84858362G	ALPK3	NM_020778.5(ALPK3):c.3624A>G:p.Pro1208=	coding	Benign/Likely_benign
15	84859292	C	T	C84859292T	ALPK3	NM_020778.5(ALPK3):c.3867C>T:p.Ser1289=	coding	Benign/Likely_benign
15	84859309	G	A	G84859309A	ALPK3	NM_020778.5(ALPK3):c.3884G>A:p.Trp1295Ter	coding	Pathogenic/Likely_pathogenic
15	84859401	G	A	G84859401A	ALPK3	NM_020778.5(ALPK3):c.3965+11G>A	noncoding	Benign/Likely_benign
15	84859681	T	C	T84859681C	ALPK3	NM_020778.5(ALPK3):c.3966-95T>C	noncoding	Benign
15	84859762	T	C	T84859762C	ALPK3	NM_020778.5(ALPK3):c.3966-14T>C	noncoding	Benign/Likely_benign
15	84859833	C	T	C84859833T	ALPK3	NM_020778.5(ALPK3):c.4023C>T:p.Cys1341=	coding	Benign/Likely_benign
15	84859873	G	A	G84859873A	ALPK3	NM_020778.5(ALPK3):c.4063G>A:p.Ala1355Thr	coding	Benign/Likely_benign
15	84859918	C	T	C84859918T	ALPK3	NM_020778.5(ALPK3):c.4093+15C>T	noncoding	Benign
15	84860045	G	T	G84860045T	ALPK3	NM_020778.5(ALPK3):c.4102G>T:p.Gly1368Ter	coding	Pathogenic
15	84862718	C	T	C84862718T	ALPK3	NM_020778.5(ALPK3):c.4213C>T:p.Arg1405Ter	coding	Pathogenic/Likely_pathogenic
15	84863599	A	G	A84863599G	ALPK3	NM_020778.5(ALPK3):c.4458A>G:p.Ala1486=	coding	Benign/Likely_benign
15	84868710	A	G	A84868710G	ALPK3	NM_020778.5(ALPK3):c.*254A>G	noncoding	Benign
15	85580602	T	C	T85580602C	AKAP13	NM_007200.5(AKAP13):c.2534T>C:p.Val845Ala	coding	Benign
15	86674257	T	C	T86674257C	AGBL1	NM_001386094.1(AGBL1):c.2995-16T>C	noncoding	Benign
15	86674382	A	G	A86674382G	AGBL1	NM_001386094.1(AGBL1):c.3104A>G:p.Gln1035Arg	coding	Benign
15	86674435	C	T	C86674435T	AGBL1	NM_001386094.1(AGBL1):c.3157C>T:p.Arg1053Trp	coding	Pathogenic
15	86988089	G	A	G86988089A	AGBL1	NM_152336.4(AGBL1):c.3323+1G>A	coding	Pathogenic
15	87876836	C	T	C87876836T	NTRK3	NM_001012338.3(NTRK3):c.*99G>A	noncoding	Benign
15	87880232	C	T	C87880232T	NTRK3	NM_001012338.3(NTRK3):c.2334+38G>A	noncoding	Benign
15	87885471	C	A	C87885471A	NTRK3	NM_001012338.3(NTRK3):c.2175+223G>T	noncoding	Benign
15	87885845	A	G	A87885845G	NTRK3	NM_001012338.3(NTRK3):c.2134-110T>C	noncoding	Benign
15	87885910	A	G	A87885910G	NTRK3	NM_001012338.3(NTRK3):c.2134-175T>C	noncoding	Benign
15	87928939	A	G	A87928939G	NTRK3	NM_001012338.3(NTRK3):c.2133+252T>C	noncoding	Benign
15	87932935	A	C	A87932935C	NTRK3	NM_001012338.3(NTRK3):c.1889+77T>G	noncoding	Benign
15	87933455	C	T	C87933455T	NTRK3	NM_001012338.3(NTRK3):c.1717-271G>A	noncoding	Benign
15	87940363	A	G	A87940363G	NTRK3	NM_001012338.3(NTRK3):c.1716+260T>C	noncoding	Benign
15	87979802	G	T	G87979802T	NTRK3	NM_001012338.3(NTRK3):c.1586-39049C>A	noncoding	Benign
15	87979804	C	T	C87979804T	NTRK3	NM_001012338.3(NTRK3):c.1586-39051G>A	noncoding	Benign
15	87981557	A	G	A87981557G	NTRK3	NM_001012338.3(NTRK3):c.1586-40804T>C	noncoding	Benign
15	88032655	C	T	C88032655T	NTRK3	NM_001012338.3(NTRK3):c.1585+202G>A	noncoding	Benign
15	88125932	T	C	T88125932C	NTRK3	NM_001012338.3(NTRK3):c.1396+339A>G	noncoding	Benign
15	88125961	G	A	G88125961A	NTRK3	NM_001012338.3(NTRK3):c.1396+310C>T	noncoding	Benign
15	88126151	G	C	G88126151C	NTRK3	NM_001012338.3(NTRK3):c.1396+120C>G	noncoding	Benign
15	88126882	T	A	T88126882A	NTRK3	NM_001012338.3(NTRK3):c.1293+280A>T	noncoding	Benign
15	88127499	C	G	C88127499G	NTRK3	NM_001012338.3(NTRK3):c.1229-273G>C	noncoding	Benign
15	88127527	T	G	T88127527G	NTRK3	NM_001012338.3(NTRK3):c.1229-301A>C	noncoding	Benign
15	88135449	T	C	T88135449C	NTRK3	NM_001012338.3(NTRK3):c.908-52A>G	noncoding	Benign
15	88136869	G	A	G88136869A	NTRK3	NM_001012338.3(NTRK3):c.623-260C>T	noncoding	Benign
15	88137453	G	A	G88137453A	NTRK3	NM_001012338.3(NTRK3):c.573C>T:p.Asn191=	coding	Benign
15	88137712	G	T	G88137712T	NTRK3	NM_001012338.3(NTRK3):c.465-151C>A	noncoding	Benign
15	88137756	T	A	T88137756A	NTRK3	NM_001012338.3(NTRK3):c.465-195A>T	noncoding	Benign
15	88183174	G	A	G88183174A	NTRK3	NM_001012338.3(NTRK3):c.395+244C>T	noncoding	Benign
15	88183355	G	A	G88183355A	NTRK3	NM_001012338.3(NTRK3):c.395+63C>T	noncoding	Benign
15	88184105	C	G	C88184105G	NTRK3	NM_001012338.3(NTRK3):c.323+120G>C	noncoding	Benign
15	88184270	G	A	G88184270A	NTRK3	NM_001012338.3(NTRK3):c.278C>T:p.Thr93Met	coding	Benign
15	88184520	A	T	A88184520T	NTRK3	NM_001012338.3(NTRK3):c.249-221T>A	noncoding	Benign
15	88255581	A	T	A88255581T	NTRK3	NM_001012338.3(NTRK3):c.248+325T>A	noncoding	Benign
15	88835900	G	A	G88835900A	ACAN	NM_001369268.1(ACAN):c.-7-300G>A	noncoding	Benign
15	88836064	G	A	G88836064A	ACAN	NM_001369268.1(ACAN):c.-7-136G>A	noncoding	Benign
15	88838476	G	A	G88838476A	ACAN	NM_001369268.1(ACAN):c.71-187G>A	noncoding	Benign
15	88838700	G	A	G88838700A	ACAN	NM_001369268.1(ACAN):c.108G>A:p.Pro36=	coding	Benign
15	88838705	C	T	C88838705T	ACAN	NM_001369268.1(ACAN):c.113C>T:p.Pro38Leu	coding	Benign
15	88838706	G	A	G88838706A	ACAN	NM_001369268.1(ACAN):c.114G>A:p.Pro38=	coding	Benign
15	88838760	C	T	C88838760T	ACAN	NM_001369268.1(ACAN):c.168C>T:p.Pro56=	coding	Benign
15	88838893	C	T	C88838893T	ACAN	NM_001369268.1(ACAN):c.301C>T:p.Gln101Ter	coding	Pathogenic
15	88838898	C	A	C88838898A	ACAN	NM_001369268.1(ACAN):c.306C>A:p.Asp102Glu	coding	Benign
15	88839153	G	T	G88839153T	ACAN	NM_001369268.1(ACAN):c.454+107G>T	noncoding	Benign
15	88839252	C	T	C88839252T	ACAN	NM_001369268.1(ACAN):c.454+206C>T	noncoding	Benign
15	88839303	G	A	G88839303A	ACAN	NM_001369268.1(ACAN):c.454+257G>A	noncoding	Benign
15	88839775	T	G	T88839775G	ACAN	NM_001369268.1(ACAN):c.455-237T>G	noncoding	Benign
15	88839813	T	C	T88839813C	ACAN	NM_001369268.1(ACAN):c.455-199T>C	noncoding	Benign
15	88839942	C	T	C88839942T	ACAN	NM_001369268.1(ACAN):c.455-70C>T	noncoding	Benign
15	88840049	C	A	C88840049A	ACAN	NM_001369268.1(ACAN):c.492C>A:p.Tyr164Ter	coding	Pathogenic
15	88840079	C	G	C88840079G	ACAN	NM_001369268.1(ACAN):c.522C>G:p.Ala174=	coding	Benign
15	88840263	G	A	G88840263A	ACAN	NM_001369268.1(ACAN):c.629+77G>A	noncoding	Benign
15	88840432	C	T	C88840432T	ACAN	NM_001369268.1(ACAN):c.629+246C>T	noncoding	Benign
15	88841503	T	A	T88841503A	ACAN	NM_001369268.1(ACAN):c.630-237T>A	noncoding	Benign
15	88841610	T	G	T88841610G	ACAN	NM_001369268.1(ACAN):c.630-130T>G	noncoding	Benign
15	88841717	C	T	C88841717T	ACAN	NM_001369268.1(ACAN):c.630-23C>T	noncoding	Benign
15	88841884	A	G	A88841884G	ACAN	NM_001369268.1(ACAN):c.757+17A>G	noncoding	Benign
15	88841920	T	G	T88841920G	ACAN	NM_001369268.1(ACAN):c.757+53T>G	noncoding	Benign
15	88843499	G	A	G88843499A	ACAN	NM_001369268.1(ACAN):c.902G>A:p.Trp301Ter	coding	Pathogenic
15	88843584	C	G	C88843584G	ACAN	NM_001369268.1(ACAN):c.987C>G:p.Tyr329Ter	coding	Pathogenic
15	88843619	C	G	C88843619G	ACAN	NM_001369268.1(ACAN):c.1022C>G:p.Ser341Ter	coding	Pathogenic
15	88843657	C	T	C88843657T	ACAN	NM_001369268.1(ACAN):c.1051+9C>T	noncoding	Benign
15	88843658	G	A	G88843658A	ACAN	NM_001369268.1(ACAN):c.1051+10G>A	noncoding	Benign/Likely_benign
15	88843867	C	T	C88843867T	ACAN	NM_001369268.1(ACAN):c.1051+219C>T	noncoding	Benign
15	88845169	A	G	A88845169G	ACAN	NM_001369268.1(ACAN):c.1052-336A>G	noncoding	Benign
15	88845277	C	G	C88845277G	ACAN	NM_001369268.1(ACAN):c.1052-228C>G	noncoding	Benign
15	88845415	G	A	G88845415A	ACAN	NM_001369268.1(ACAN):c.1052-90G>A	noncoding	Benign
15	88845583	G	A	G88845583A	ACAN	NM_001369268.1(ACAN):c.1130G>A:p.Trp377Ter	coding	Pathogenic
15	88845663	A	G	A88845663G	ACAN	NM_001369268.1(ACAN):c.1210A>G:p.Ile404Val	coding	Benign
15	88845674	C	T	C88845674T	ACAN	NM_001369268.1(ACAN):c.1221C>T:p.Val407=	coding	Benign
15	88845696	G	T	G88845696T	ACAN	NM_001369268.1(ACAN):c.1243G>T:p.Glu415Ter	coding	Pathogenic
15	88845819	T	C	T88845819C	ACAN	NM_001369268.1(ACAN):c.1366T>C:p.Phe456Leu	coding	Benign
15	88846168	G	A	G88846168A	ACAN	NM_001369268.1(ACAN):c.1429+286G>A	noncoding	Benign
15	88847012	G	A	G88847012A	ACAN	NM_001369268.1(ACAN):c.1430-231G>A	noncoding	Benign
15	88847191	A	G	A88847191G	ACAN	NM_001369268.1(ACAN):c.1430-52A>G	noncoding	Benign
15	88847193	G	A	G88847193A	ACAN	NM_001369268.1(ACAN):c.1430-50G>A	noncoding	Benign
15	88847202	C	A	C88847202A	ACAN	NM_001369268.1(ACAN):c.1430-41C>A	noncoding	Benign
15	88847203	G	A	G88847203A	ACAN	NM_001369268.1(ACAN):c.1430-40G>A	noncoding	Benign
15	88847203	G	T	G88847203T	ACAN	NM_001369268.1(ACAN):c.1430-40G>T	noncoding	Benign
15	88847282	C	T	C88847282T	ACAN	NM_001369268.1(ACAN):c.1469C>T:p.Ser490Leu	coding	Benign/Likely_benign
15	88847289	C	G	C88847289G	ACAN	NM_001369268.1(ACAN):c.1476C>G:p.Thr492=	coding	Benign
15	88847402	G	A	G88847402A	ACAN	NM_001369268.1(ACAN):c.1589G>A:p.Arg530Gln	coding	Benign
15	88847751	A	G	A88847751G	ACAN	NM_001369268.1(ACAN):c.1605-160A>G	noncoding	Benign
15	88847783	G	A	G88847783A	ACAN	NM_001369268.1(ACAN):c.1605-128G>A	noncoding	Benign
15	88847821	C	A	C88847821A	ACAN	NM_001369268.1(ACAN):c.1605-90C>A	noncoding	Benign
15	88847909	A	C	A88847909C	ACAN	NM_001369268.1(ACAN):c.1605-2A>C	noncoding	Pathogenic
15	88847914	C	A	C88847914A	ACAN	NM_001369268.1(ACAN):c.1608C>A:p.Tyr536Ter	coding	Pathogenic
15	88847929	C	A	C88847929A	ACAN	NM_001369268.1(ACAN):c.1623C>A:p.Pro541=	coding	Benign
15	88848147	T	C	T88848147C	ACAN	NM_001369268.1(ACAN):c.1732+109T>C	noncoding	Benign
15	88848247	T	C	T88848247C	ACAN	NM_001369268.1(ACAN):c.1732+209T>C	noncoding	Benign
15	88848316	A	G	A88848316G	ACAN	NM_001369268.1(ACAN):c.1732+278A>G	noncoding	Benign
15	88848350	C	A	C88848350A	ACAN	NM_001369268.1(ACAN):c.1732+312C>A	noncoding	Benign
15	88849142	C	T	C88849142T	ACAN	NM_001369268.1(ACAN):c.1733-296C>T	noncoding	Benign
15	88849167	A	G	A88849167G	ACAN	NM_001369268.1(ACAN):c.1733-271A>G	noncoding	Benign
15	88849171	A	G	A88849171G	ACAN	NM_001369268.1(ACAN):c.1733-267A>G	noncoding	Benign
15	88849458	C	A	C88849458A	ACAN	NM_001369268.1(ACAN):c.1753C>A:p.Arg585Ser	coding	Benign
15	88849566	A	T	A88849566T	ACAN	NM_001369268.1(ACAN):c.1861A>T:p.Lys621Ter	coding	Pathogenic
15	88849587	G	A	G88849587A	ACAN	NM_001369268.1(ACAN):c.1882G>A:p.Ala628Thr	coding	Benign
15	88849739	G	C	G88849739C	ACAN	NM_001369268.1(ACAN):c.2026+8G>C	noncoding	Benign
15	88854595	C	T	C88854595T	ACAN	NM_001369268.1(ACAN):c.2267-257C>T	noncoding	Benign
15	88854596	A	G	A88854596G	ACAN	NM_001369268.1(ACAN):c.2267-256A>G	noncoding	Benign
15	88854712	G	C	G88854712C	ACAN	NM_001369268.1(ACAN):c.2267-140G>C	noncoding	Benign
15	88854874	C	T	C88854874T	ACAN	NM_001369268.1(ACAN):c.2289C>T:p.Pro763=	coding	Benign
15	88855099	G	A	G88855099A	ACAN	NM_001369268.1(ACAN):c.2514G>A:p.Ser838=	coding	Benign
15	88855176	C	T	C88855176T	ACAN	NM_001369268.1(ACAN):c.2591C>T:p.Pro864Leu	coding	Benign
15	88855322	C	A	C88855322A	ACAN	NM_001369268.1(ACAN):c.2737C>A:p.Pro913Thr	coding	Benign
15	88855374	G	T	G88855374T	ACAN	NM_001369268.1(ACAN):c.2789G>T:p.Ser930Ile	coding	Benign
15	88855400	T	A	T88855400A	ACAN	NM_001369268.1(ACAN):c.2815T>A:p.Ser939Thr	coding	Benign
15	88855594	C	T	C88855594T	ACAN	NM_001369268.1(ACAN):c.3009C>T:p.Thr1003=	coding	Benign
15	88855765	C	T	C88855765T	ACAN	NM_001369268.1(ACAN):c.3180C>T:p.Thr1060=	coding	Benign
15	88855879	C	T	C88855879T	ACAN	NM_001369268.1(ACAN):c.3294C>T:p.Thr1098=	coding	Benign
15	88856222	G	A	G88856222A	ACAN	NM_001369268.1(ACAN):c.3637G>A:p.Ala1213Thr	coding	Benign
15	88856755	C	G	C88856755G	ACAN	NM_001369268.1(ACAN):c.4170C>G:p.Asp1390Glu	coding	Benign
15	88856792	A	G	A88856792G	ACAN	NM_001369268.1(ACAN):c.4207A>G:p.Thr1403Ala	coding	Benign
15	88857340	C	T	C88857340T	ACAN	NM_001369268.1(ACAN):c.4755C>T:p.Asp1585=	coding	Benign
15	88857449	A	G	A88857449G	ACAN	NM_001369268.1(ACAN):c.4864A>G:p.Thr1622Ala	coding	Benign
15	88857732	G	T	G88857732T	ACAN	NM_001369268.1(ACAN):c.5147G>T:p.Ser1716Ile	coding	Benign
15	88857806	G	C	G88857806C	ACAN	NM_001369268.1(ACAN):c.5221G>C:p.Gly1741Arg	coding	Benign
15	88857878	A	G	A88857878G	ACAN	NM_001369268.1(ACAN):c.5293A>G:p.Ile1765Val	coding	Benign
15	88858124	G	T	G88858124T	ACAN	NM_001369268.1(ACAN):c.5539G>T:p.Glu1847Ter	coding	Pathogenic/Likely_pathogenic
15	88858131	G	T	G88858131T	ACAN	NM_001369268.1(ACAN):c.5546G>T:p.Gly1849Val	coding	Benign
15	88858148	C	T	C88858148T	ACAN	NM_001369268.1(ACAN):c.5563C>T:p.Leu1855Phe	coding	Benign
15	88858384	T	G	T88858384G	ACAN	NM_001369268.1(ACAN):c.5799T>G:p.Thr1933=	coding	Benign
15	88858385	G	C	G88858385C	ACAN	NM_001369268.1(ACAN):c.5800G>C:p.Val1934Leu	coding	Benign
15	88858583	G	A	G88858583A	ACAN	NM_001369268.1(ACAN):c.5998G>A:p.Gly2000Ser	coding	Benign
15	88858634	G	T	G88858634T	ACAN	NM_001369268.1(ACAN):c.6049G>T:p.Glu2017Ter	coding	Pathogenic
15	88858758	C	T	C88858758T	ACAN	NM_001369268.1(ACAN):c.6173C>T:p.Pro2058Leu	coding	Benign
15	88858820	A	G	A88858820G	ACAN	NM_001369268.1(ACAN):c.6235A>G:p.Ile2079Val	coding	Benign
15	88858945	C	G	C88858945G	ACAN	NM_001369268.1(ACAN):c.6360C>G:p.Ser2120Arg	coding	Benign
15	88859008	T	C	T88859008C	ACAN	NM_001369268.1(ACAN):c.6423T>C:p.Leu2141=	coding	Benign
15	88859365	T	G	T88859365G	ACAN	NM_001369268.1(ACAN):c.6780T>G:p.Ala2260=	coding	Benign
15	88859665	G	A	G88859665A	ACAN	NM_001369268.1(ACAN):c.6832+248G>A	noncoding	Benign
15	88859694	T	C	T88859694C	ACAN	NM_001369268.1(ACAN):c.6832+277T>C	noncoding	Benign
15	88860044	C	T	C88860044T	ACAN	NM_001369268.1(ACAN):c.6833-282C>T	noncoding	Benign
15	88860173	G	A	G88860173A	ACAN	NM_001369268.1(ACAN):c.6833-153G>A	noncoding	Benign
15	88860473	G	A	G88860473A	ACAN	NM_001369268.1(ACAN):c.6946+34G>A	noncoding	Benign
15	88860529	A	G	A88860529G	ACAN	NM_001369268.1(ACAN):c.6946+90A>G	noncoding	Benign
15	88860691	A	G	A88860691G	ACAN	NM_001369268.1(ACAN):c.6946+252A>G	noncoding	Benign
15	88871064	G	T	G88871064T	ACAN	NM_001369268.1(ACAN):c.7061-318G>T	noncoding	Benign
15	88871145	C	T	C88871145T	ACAN	NM_001369268.1(ACAN):c.7061-237C>T	noncoding	Benign
15	88871417	C	T	C88871417T	ACAN	NM_001369268.1(ACAN):c.7096C>T:p.Gln2366Ter	coding	Pathogenic
15	88871440	C	G	C88871440G	ACAN	NM_001369268.1(ACAN):c.7119C>G:p.Phe2373Leu	coding	Benign
15	88871518	C	T	C88871518T	ACAN	NM_001369268.1(ACAN):c.7197C>T:p.Pro2399=	coding	Benign
15	88872016	C	G	C88872016G	ACAN	NM_001369268.1(ACAN):c.7233C>G:p.Asp2411Glu	coding	Benign
15	88872771	T	G	T88872771G	ACAN	NM_001369268.1(ACAN):c.7303-110T>G	noncoding	Benign
15	88872988	C	A	C88872988A	ACAN	NM_001369268.1(ACAN):c.7410C>A:p.Cys2470Ter	coding	Pathogenic
15	88873619	T	A	T88873619A	ACAN	NM_001369268.1(ACAN):c.7448-223T>A	noncoding	Benign
15	88873742	A	G	A88873742G	ACAN	NM_001369268.1(ACAN):c.7448-100A>G	noncoding	Benign
15	88873893	A	G	A88873893G	ACAN	NM_001369268.1(ACAN):c.7499A>G:p.Lys2500Arg	coding	Benign
15	88874007	A	G	A88874007G	ACAN	NM_001369268.1(ACAN):c.7613A>G:p.Gln2538Arg	coding	Benign
15	88874079	G	A	G88874079A	ACAN	NM_001369268.1(ACAN):c.7630+55G>A	noncoding	Benign
15	88874120	A	G	A88874120G	ACAN	NM_001369268.1(ACAN):c.7630+96A>G	noncoding	Benign
15	88874398	G	A	G88874398A	ACAN	NM_001369268.1(ACAN):c.7631-7G>A	noncoding	Benign
15	89210682	G	A	G89210682A	RLBP1	NM_000326.5(RLBP1):c.795+17C>T	noncoding	Benign
15	89210690	C	T	C89210690T	RLBP1	NM_000326.5(RLBP1):c.795+9G>A	noncoding	Benign
15	89210985	G	A	G89210985A	RLBP1	NM_000326.5(RLBP1):c.685-176C>T	noncoding	Benign
15	89211633	C	T	C89211633T	RLBP1	NM_000326.5(RLBP1):c.684+110G>A	noncoding	Benign
15	89215077	C	A	C89215077A	RLBP1	NM_000326.5(RLBP1):c.508G>T:p.Glu170Ter	coding	Pathogenic
15	89215119	G	A	G89215119A	RLBP1	NM_000326.5(RLBP1):c.466C>T:p.Arg156Ter	coding	Pathogenic
15	89215321	A	G	A89215321G	RLBP1	NM_000326.5(RLBP1):c.347-83T>C	noncoding	Benign
15	89217264	C	A	C89217264A	RLBP1	NM_000326.5(RLBP1):c.202G>T:p.Glu68Ter	coding	Pathogenic
15	89218433	C	A	C89218433A	RLBP1	NM_000326.5(RLBP1):c.141+132G>T	noncoding	Benign
15	89218480	C	A	C89218480A	RLBP1	NM_000326.5(RLBP1):c.141+85G>T	noncoding	Benign
15	89218565	C	T	C89218565T	RLBP1	NM_000326.5(RLBP1):c.141G>A:p.Lys47=	coding	Pathogenic
15	89218580	G	A	G89218580A	RLBP1	NM_000326.5(RLBP1):c.126C>T:p.Arg42=	coding	Benign
15	89219171	C	T	C89219171T	RLBP1	NM_000326.5(RLBP1):c.-100-96G>A	noncoding	Benign
15	89247480	A	G	A89247480G	FANCI	NM_001113378.2(FANCI):c.-19-149A>G	noncoding	Benign
15	89258446	G	C	G89258446C	FANCI	NM_001113378.2(FANCI):c.85-258G>C	noncoding	Benign
15	89258490	A	G	A89258490G	FANCI	NM_001113378.2(FANCI):c.85-214A>G	noncoding	Benign
15	89258498	A	G	A89258498G	FANCI	NM_001113378.2(FANCI):c.85-206A>G	noncoding	Benign
15	89260500	G	A	G89260500A	FANCI	NM_001113378.2(FANCI):c.158-213G>A	noncoding	Benign
15	89260592	G	A	G89260592A	FANCI	NM_001113378.2(FANCI):c.158-121G>A	noncoding	Benign
15	89260671	G	T	G89260671T	FANCI	NM_001113378.2(FANCI):c.158-42G>T	noncoding	Benign
15	89262099	G	A	G89262099A	FANCI	NM_001113378.2(FANCI):c.503+221G>A	noncoding	Benign
15	89263426	C	T	C89263426T	FANCI	NM_001113378.2(FANCI):c.511C>T:p.Gln171Ter	coding	Pathogenic
15	89264129	G	A	G89264129A	FANCI	NM_001113378.2(FANCI):c.669+103G>A	noncoding	Benign
15	89273380	G	T	G89273380T	FANCI	NM_001113378.2(FANCI):c.886G>T:p.Gly296Ter	coding	Pathogenic
15	89273511	T	C	T89273511C	FANCI	NM_001113378.2(FANCI):c.975+42T>C	noncoding	Benign
15	89273512	A	C	A89273512C	FANCI	NM_001113378.2(FANCI):c.975+43A>C	noncoding	Benign
15	89274190	C	A	C89274190A	FANCI	NM_001113378.2(FANCI):c.998C>A:p.Ser333Ter	coding	Pathogenic
15	89274458	G	C	G89274458C	FANCI	NM_001113378.2(FANCI):c.1112+154G>C	noncoding	Benign
15	89278402	A	G	A89278402G	FANCI	NM_001113378.2(FANCI):c.1294-285A>G	noncoding	Benign
15	89278501	G	A	G89278501A	FANCI	NM_001113378.2(FANCI):c.1294-186G>A	noncoding	Benign
15	89278598	A	G	A89278598G	FANCI	NM_001113378.2(FANCI):c.1294-89A>G	noncoding	Benign
15	89281027	A	C	A89281027C	FANCI	NM_001113378.2(FANCI):c.1382-143A>C	noncoding	Benign
15	89281179	C	A	C89281179A	FANCI	NM_001113378.2(FANCI):c.1391C>A:p.Ser464Ter	coding	Pathogenic
15	89281613	C	T	C89281613T	FANCI	NM_001113378.2(FANCI):c.1513-152C>T	noncoding	Benign
15	89281713	C	G	C89281713G	FANCI	NM_001113378.2(FANCI):c.1513-52C>G	noncoding	Benign
15	89281922	G	A	G89281922A	FANCI	NM_001113378.2(FANCI):c.1583+87G>A	noncoding	Benign
15	89283121	C	G	C89283121G	FANCI	NM_001113378.2(FANCI):c.1584-15C>G	noncoding	Benign
15	89283266	G	A	G89283266A	FANCI	NM_001113378.2(FANCI):c.1698+16G>A	noncoding	Benign
15	89283515	A	C	A89283515C	FANCI	NM_001113378.2(FANCI):c.1698+265A>C	noncoding	Benign
15	89285351	G	T	G89285351T	FANCI	NM_001113378.2(FANCI):c.1821+133G>T	noncoding	Benign
15	89290057	T	C	T89290057C	FANCI	NM_001113378.2(FANCI):c.1822-156T>C	noncoding	Benign
15	89293537	C	A	C89293537A	FANCI	NM_001113378.2(FANCI):c.2292-296C>A	noncoding	Benign
15	89293562	C	A	C89293562A	FANCI	NM_001113378.2(FANCI):c.2292-271C>A	noncoding	Benign
15	89293713	T	C	T89293713C	FANCI	NM_001113378.2(FANCI):c.2292-120T>C	noncoding	Benign
15	89293988	C	G	C89293988G	FANCI	NM_001113378.2(FANCI):c.2447C>G:p.Ala816Gly	coding	Benign
15	89294814	G	A	G89294814A	FANCI	NM_001113378.2(FANCI):c.2457-101G>A	noncoding	Benign
15	89299924	C	T	C89299924T	FANCI	NM_001113378.2(FANCI):c.2761C>T:p.Gln921Ter	coding	Pathogenic
15	89300513	G	A	G89300513A	FANCI	NM_001113378.2(FANCI):c.2889+128G>A	noncoding	Benign
15	89300574	G	C	G89300574C	FANCI	NM_001113378.2(FANCI):c.2889+189G>C	noncoding	Benign
15	89301004	G	T	G89301004T	FANCI	NM_001113378.2(FANCI):c.2890-322G>T	noncoding	Benign
15	89301618	C	T	C89301618T	FANCI	NM_001113378.2(FANCI):c.3006+176C>T	noncoding	Benign
15	89301629	G	A	G89301629A	FANCI	NM_001113378.2(FANCI):c.3006+187G>A	noncoding	Benign
15	89301779	A	C	A89301779C	FANCI	NM_001113378.2(FANCI):c.3006+337A>C	noncoding	Benign
15	89303648	T	C	T89303648C	FANCI	NM_001113378.2(FANCI):c.3007-216T>C	noncoding	Benign
15	89303799	G	A	G89303799A	FANCI	NM_001113378.2(FANCI):c.3007-65G>A	noncoding	Benign
15	89303908	C	T	C89303908T	FANCI	NM_001113378.2(FANCI):c.3051C>T:p.Asn1017=	coding	Benign
15	89305502	C	G	C89305502G	FANCI	NM_001113378.2(FANCI):c.3255+93C>G	noncoding	Benign
15	89305898	G	A	G89305898A	FANCI	NM_001113378.2(FANCI):c.3350-109G>A	noncoding	Benign
15	89306380	A	G	A89306380G	FANCI	NM_001113378.2(FANCI):c.3537+186A>G	noncoding	Benign
15	89307892	A	G	A89307892G	FANCI	NM_001113378.2(FANCI):c.3651+220A>G	noncoding	Benign
15	89307898	G	A	G89307898A	FANCI	NM_001113378.2(FANCI):c.3651+226G>A	noncoding	Benign
15	89312986	A	G	A89312986G	FANCI	NM_001113378.2(FANCI):c.3720+14A>G	noncoding	Benign
15	89313019	G	A	G89313019A	FANCI	NM_001113378.2(FANCI):c.3720+47G>A	noncoding	Benign
15	89314467	T	G	T89314467G	FANCI	NM_001113378.2(FANCI):c.3721-145T>G	noncoding	Benign
15	89314573	T	C	T89314573C	FANCI	NM_001113378.2(FANCI):c.3721-39T>C	noncoding	Benign
15	89314735	A	G	A89314735G	FANCI	NM_001113378.2(FANCI):c.3816+28A>G	noncoding	Benign
15	89315372	G	T	G89315372T	FANCI	NM_001113378.2(FANCI):c.3907G>T:p.Glu1303Ter	coding	Pathogenic
15	89315428	C	T	C89315428T	FANCI	NM_001113378.2(FANCI):c.3924+39C>T	noncoding	Benign
15	89316146	A	G	A89316146G	FANCI	NM_001113378.2(FANCI):c.3925-251A>G	noncoding	Benign
15	89316262	G	A	G89316262A	FANCI	NM_001113378.2(FANCI):c.3925-135G>A	noncoding	Benign
15	89316383	C	G	C89316383G	FANCI	NM_001113378.2(FANCI):c.3925-14C>G	coding	Benign
15	89316421	C	T	C89316421T	FANCI	NM_001113378.2(FANCI):c.3949C>T:p.Gln1317Ter	coding	Pathogenic/Likely_pathogenic
15	89317316	C	A	C89317316A	FANCI	NM_002693.3(POLG):c.3643+60G>T	noncoding	Benign
15	89317445	C	A	C89317445A	POLG	NM_002693.3(POLG):c.3574G>T:p.Glu1192Ter	coding	Pathogenic
15	89318539	A	G	A89318539G	POLG	NM_002693.3(POLG):c.3482+2T>C	noncoding	Pathogenic/Likely_pathogenic
15	89318729	A	C	A89318729C	POLG	NM_002693.3(POLG):c.3294T>G:p.Asn1098Lys	coding	Pathogenic
15	89319053	C	T	C89319053T	POLG	NM_002693.3(POLG):c.3151G>A:p.Gly1051Arg	coding	Pathogenic/Likely_pathogenic
15	89320650	G	A	G89320650A	POLG	NM_002693.3(POLG):c.2981+116C>T	noncoding	Benign
15	89320697	T	G	T89320697G	POLG	NM_002693.3(POLG):c.2981+69A>C	noncoding	Benign
15	89320994	C	T	C89320994T	POLG	NM_002693.3(POLG):c.2753G>A:p.Trp918Ter	coding	Pathogenic
15	89321459	G	C	G89321459C	POLG	NM_002693.3(POLG):c.2599-199C>G	noncoding	Benign
15	89321532	G	T	G89321532T	POLG	NM_002693.3(POLG):c.2598+204C>A	noncoding	Benign
15	89321842	T	C	T89321842C	POLG	NM_002693.3(POLG):c.2492A>G:p.Tyr831Cys	coding	Benign/Likely_benign
15	89322978	A	G	A89322978G	POLG	NM_002693.3(POLG):c.2266-76T>C	noncoding	Benign/Likely_benign
15	89323452	G	T	G89323452T	POLG	NM_002693.3(POLG):c.2217C>A:p.Tyr739Ter	coding	Pathogenic
15	89323504	C	T	C89323504T	POLG	NM_002693.3(POLG):c.2165G>A:p.Arg722His	coding	Benign/Likely_benign
15	89323524	C	T	C89323524T	POLG	NM_002693.3(POLG):c.2158-13G>A	noncoding	Benign/Likely_benign
15	89323723	A	G	A89323723G	POLG	NM_002693.3(POLG):c.2157+92T>C	noncoding	Benign
15	89325569	G	A	G89325569A	POLG	NM_002693.3(POLG):c.1830C>T:p.Phe610=	coding	Benign/Likely_benign
15	89325616	G	A	G89325616A	POLG	NM_002693.3(POLG):c.1783C>T:p.Gln595Ter	coding	Pathogenic
15	89325679	G	A	G89325679A	POLG	NM_002693.3(POLG):c.1720C>T:p.Arg574Trp	coding	Pathogenic
15	89325923	G	A	G89325923A	POLG	NM_002693.3(POLG):c.1713-237C>T	noncoding	Benign
15	89327040	C	T	C89327040T	POLG	NM_002693.3(POLG):c.1457G>A:p.Trp486Ter	coding	Pathogenic
15	89327165	A	G	A89327165G	POLG	NM_002693.3(POLG):c.1433+2T>C	noncoding	Pathogenic
15	89327636	A	G	A89327636G	POLG	NM_002693.3(POLG):c.1251-287T>C	noncoding	Benign
15	89328820	C	T	C89328820T	POLG	NM_002693.3(POLG):c.1035G>A:p.Trp345Ter	coding	Pathogenic
15	89328991	G	C	G89328991C	POLG	NM_002693.3(POLG):c.975C>G:p.Pro325=	coding	Benign/Likely_benign
15	89329059	C	T	C89329059T	POLG	NM_002693.3(POLG):c.907G>A:p.Gly303Arg	coding	Pathogenic
15	89330090	G	C	G89330090C	POLG	NM_002693.3(POLG):c.846C>G:p.Tyr282Ter	coding	Pathogenic
15	89330278	T	C	T89330278C	POLG	NM_002693.3(POLG):c.660-2A>G	noncoding	Pathogenic
15	89333005	C	A	C89333005A	POLG	NM_002693.3(POLG):c.659+91G>T	noncoding	Benign
15	89333131	G	T	G89333131T	POLG	NM_002693.3(POLG):c.624C>A:p.Cys208Ter	coding	Pathogenic
15	89333487	G	A	G89333487A	POLG	NM_002693.3(POLG):c.268C>T:p.Gln90Ter	coding	Pathogenic
15	89333545	C	A	C89333545A	POLG	NM_002693.3(POLG):c.210G>T:p.Arg70=	coding	Benign/Likely_benign
15	89333610	G	C	G89333610C	POLG	NM_002693.3(POLG):c.145C>G:p.Gln49Glu	coding	Benign
15	89333621	T	C	T89333621C	POLG	NM_002693.3(POLG):c.134A>G:p.Gln45Arg	coding	Benign/Likely_benign
15	89628487	A	G	A89628487G	KIF7	NM_198525.3(KIF7):c.3964T>C:p.Ser1322Pro	coding	Benign
15	89628902	C	G	C89628902G	KIF7	NM_198525.3(KIF7):c.3664+74G>C	noncoding	Benign
15	89629243	A	G	A89629243G	KIF7	NM_198525.3(KIF7):c.3518-121T>C	noncoding	Benign
15	89629387	G	A	G89629387A	KIF7	NM_198525.3(KIF7):c.3505C>T:p.Gln1169Ter	coding	Pathogenic
15	89629680	A	T	A89629680T	KIF7	NM_198525.3(KIF7):c.3319-107T>A	noncoding	Benign
15	89629714	C	T	C89629714T	KIF7	NM_198525.3(KIF7):c.3319-141G>A	noncoding	Benign
15	89630238	C	A	C89630238A	KIF7	NM_198525.3(KIF7):c.3318+49G>T	noncoding	Benign
15	89630370	G	A	G89630370A	KIF7	NM_198525.3(KIF7):c.3235C>T:p.Gln1079Ter	coding	Pathogenic
15	89630626	C	G	C89630626G	KIF7	NM_198525.3(KIF7):c.3112-133G>C	noncoding	Benign
15	89630772	G	T	G89630772T	KIF7	NM_198525.3(KIF7):c.3112-279C>A	noncoding	Benign
15	89631389	G	A	G89631389A	KIF7	NM_198525.3(KIF7):c.3111+106C>T	noncoding	Benign
15	89631884	G	A	G89631884A	KIF7	NM_198525.3(KIF7):c.2896-174C>T	noncoding	Benign
15	89633121	C	T	C89633121T	KIF7	NM_198525.3(KIF7):c.2718+20G>A	noncoding	Benign/Likely_benign
15	89633122	G	A	G89633122A	KIF7	NM_198525.3(KIF7):c.2718+19C>T	noncoding	Benign/Likely_benign
15	89633337	A	G	A89633337G	KIF7	NM_198525.3(KIF7):c.2593-71T>C	noncoding	Benign
15	89633928	C	T	C89633928T	KIF7	NM_198525.3(KIF7):c.2395-45G>A	noncoding	Benign
15	89645130	G	C	G89645130C	KIF7	NM_198525.3(KIF7):c.2074C>G:p.Gln692Glu	coding	Benign/Likely_benign
15	89645283	A	G	A89645283G	KIF7	NM_198525.3(KIF7):c.2038+53T>C	noncoding	Benign
15	89647610	G	A	G89647610A	KIF7	NM_198525.3(KIF7):c.1546C>T:p.Gln516Ter	coding	Pathogenic
15	89648124	T	C	T89648124C	KIF7	NM_198525.3(KIF7):c.1443+131A>G	noncoding	Benign
15	89649187	C	A	C89649187A	KIF7	NM_198525.3(KIF7):c.710G>T:p.Arg237Leu	coding	Benign/Likely_benign
15	89649674	T	C	T89649674C	KIF7	NM_198525.3(KIF7):c.529+67A>G	noncoding	Benign
15	89652418	C	T	C89652418T	KIF7	NM_198525.3(KIF7):c.328+185G>A	noncoding	Benign
15	89652481	G	A	G89652481A	KIF7	NM_198525.3(KIF7):c.328+122C>T	noncoding	Benign
15	89652534	A	G	A89652534G	KIF7	NM_198525.3(KIF7):c.328+69T>C	noncoding	Benign
15	89652535	A	G	A89652535G	KIF7	NM_198525.3(KIF7):c.328+68T>C	noncoding	Benign
15	89652648	G	A	G89652648A	KIF7	NM_198525.3(KIF7):c.283C>T:p.Gln95Ter	coding	Pathogenic
15	89653134	T	C	T89653134C	KIF7	NM_198525.3(KIF7):c.-24-180A>G	noncoding	Benign
15	89653193	A	G	A89653193G	KIF7	NM_198525.3(KIF7):c.-24-239T>C	noncoding	Benign
15	89667026	G	A	G89667026A	PLIN1	NM_002666.5(PLIN1):c.1119C>T:p.Val373=	coding	Benign
15	89667032	A	G	A89667032G	PLIN1	NM_002666.5(PLIN1):c.1113T>C:p.Pro371=	coding	Benign
15	89667206	C	A	C89667206A	PLIN1	NM_002666.5(PLIN1):c.964-25G>T	noncoding	Benign
15	89667253	G	T	G89667253T	PLIN1	NM_002666.5(PLIN1):c.964-72C>A	noncoding	Benign
15	89667816	A	T	A89667816T	PLIN1	NM_002666.5(PLIN1):c.772-23T>A	noncoding	Benign
15	89667897	G	A	G89667897A	PLIN1	NM_002666.5(PLIN1):c.772-104C>T	noncoding	Benign
15	89667940	T	G	T89667940G	PLIN1	NM_002666.5(PLIN1):c.772-147A>C	noncoding	Benign
15	89669381	C	G	C89669381G	PLIN1	NM_002666.5(PLIN1):c.771+119G>C	noncoding	Benign
15	89669903	T	A	T89669903A	PLIN1	NM_002666.5(PLIN1):c.598+77A>T	noncoding	Benign
15	89669998	G	C	G89669998C	PLIN1	NM_002666.5(PLIN1):c.580C>G:p.Pro194Ala	coding	Benign
15	89671432	G	A	G89671432A	PLIN1	NM_002666.5(PLIN1):c.333+50C>T	noncoding	Benign
15	89671717	C	A	C89671717A	PLIN1	NM_002666.5(PLIN1):c.251-153G>T	noncoding	Benign
15	89673559	T	G	T89673559G	PLIN1	NM_002666.5(PLIN1):c.46-145A>C	noncoding	Benign
15	89677151	G	T	G89677151T	PLIN1	NM_002666.5(PLIN1):c.45+294C>A	noncoding	Benign
15	89677171	T	C	T89677171C	PLIN1	NM_002666.5(PLIN1):c.45+274A>G	noncoding	Benign
15	89677642	G	A	G89677642A	PLIN1	NM_002666.5(PLIN1):c.-14-139C>T	noncoding	Benign
15	89750545	A	C	A89750545C	MESP1	NM_018670.4(MESP1):c.687T>G:p.Pro229=	coding	Benign
15	89750563	G	C	G89750563C	MESP1	NM_018670.4(MESP1):c.669C>G:p.Phe223Leu	coding	Benign
15	89750575	C	A	C89750575A	MESP1	NM_018670.4(MESP1):c.657G>T:p.Pro219=	coding	Benign
15	89750582	C	T	C89750582T	MESP1	NM_018670.4(MESP1):c.650G>A:p.Arg217His	coding	Benign
15	89750712	T	C	T89750712C	MESP1	NM_018670.4(MESP1):c.520A>G:p.Met174Val	coding	Benign
15	89750729	T	C	T89750729C	MESP1	NM_018670.4(MESP1):c.503A>G:p.Asp168Gly	coding	Benign
15	89750779	G	C	G89750779C	MESP1	NM_018670.4(MESP1):c.453C>G:p.Cys151Trp	coding	Benign
15	89750797	C	A	C89750797A	MESP1	NM_018670.4(MESP1):c.435G>T:p.Glu145Asp	coding	Benign
15	89750887	G	A	G89750887A	MESP1	NM_018670.4(MESP1):c.345C>T:p.Pro115=	coding	Benign
15	89751028	G	A	G89751028A	MESP1	NM_018670.4(MESP1):c.204C>T:p.Ser68=	coding	Benign
15	89751050	A	C	A89751050C	MESP1	NM_018670.4(MESP1):c.182T>G:p.Leu61Arg	coding	Benign
15	89751058	T	G	T89751058G	MESP1	NM_018670.4(MESP1):c.174A>C:p.Pro58=	coding	Benign
15	89751075	C	G	C89751075G	MESP1	NM_018670.4(MESP1):c.157G>C:p.Ala53Pro	coding	Benign
15	89751079	G	T	G89751079T	MESP1	NM_018670.4(MESP1):c.153C>A:p.Pro51=	coding	Benign
15	89751085	G	A	G89751085A	MESP1	NM_018670.4(MESP1):c.147C>T:p.Asp49=	coding	Benign
15	89751132	G	C	G89751132C	MESP1	NM_018670.4(MESP1):c.100C>G:p.Arg34Gly	coding	Benign
15	89751187	G	A	G89751187A	MESP1	NM_018670.4(MESP1):c.45C>T:p.Leu15=	coding	Benign
15	89751199	C	G	C89751199G	MESP1	NM_018670.4(MESP1):c.33G>C:p.Glu11Asp	coding	Benign
15	89776082	T	C	T89776082C	MESP2	Single_allele	noncoding	Benign
15	89776088	G	A	G89776088A	MESP2	Single_allele	noncoding	Benign
15	89776368	C	A	C89776368A	MESP2	NM_001039958.2(MESP2):c.11C>A:p.Ser4Ter	coding	Pathogenic/Likely_pathogenic
15	89776404	G	A	G89776404A	MESP2	NM_001039958.2(MESP2):c.47G>A:p.Trp16Ter	coding	Pathogenic
15	89776415	C	T	C89776415T	MESP2	NM_001039958.2(MESP2):c.58C>T:p.Gln20Ter	coding	Pathogenic
15	89776429	G	A	G89776429A	MESP2	NM_001039958.2(MESP2):c.72G>A:p.Trp24Ter	coding	Pathogenic
15	89776441	G	A	G89776441A	MESP2	NM_001039958.2(MESP2):c.84G>A:p.Trp28Ter	coding	Pathogenic
15	89776586	G	T	G89776586T	MESP2	NM_001039958.2(MESP2):c.229G>T:p.Gly77Ter	coding	Pathogenic/Likely_pathogenic
15	89776598	G	T	G89776598T	MESP2	NM_001039958.2(MESP2):c.241G>T:p.Gly81Ter	coding	Pathogenic/Likely_pathogenic
15	89776843	C	A	C89776843A	MESP2	NM_001039958.2(MESP2):c.486C>A:p.Cys162Ter	coding	Pathogenic
15	89777808	A	G	A89777808G	MESP2	NM_001039958.2(MESP2):c.925-257A>G	noncoding	Benign
15	89777869	G	T	G89777869T	MESP2	NM_001039958.2(MESP2):c.925-196G>T	noncoding	Benign
15	89804552	C	T	C89804552T	ANPEP	NM_001150.3(ANPEP):c.963G>A:p.Thr321=	coding	Benign
15	89804561	C	A	C89804561A	ANPEP	NM_001150.3(ANPEP):c.954G>T:p.Leu318=	coding	Benign
15	89804583	G	A	G89804583A	ANPEP	NM_001150.3(ANPEP):c.932C>T:p.Ala311Val	coding	Benign
15	90084341	G	A	G90084341A	IDH2	NM_002168.4(IDH2):c.1284C>T:p.Asn428=	coding	Benign
15	90084384	T	C	T90084384C	IDH2	NM_002168.4(IDH2):c.1272-31A>G	noncoding	Benign
15	90085078	G	A	G90085078A	IDH2	NM_002168.4(IDH2):c.1101C>T:p.Asn367=	coding	Benign
15	90085111	G	A	G90085111A	IDH2	NM_002168.4(IDH2):c.1081-13C>T	noncoding	Benign
15	90085359	G	A	G90085359A	IDH2	NM_002168.4(IDH2):c.996C>T:p.Ser332=	coding	Benign/Likely_benign
15	90085545	T	C	T90085545C	IDH2	NM_002168.4(IDH2):c.968-158A>G	noncoding	Benign
15	90087398	G	A	G90087398A	IDH2	NM_002168.4(IDH2):c.815+41C>T	noncoding	Benign
15	90087647	G	C	G90087647C	IDH2	NM_002168.4(IDH2):c.679-72C>G	noncoding	Benign
15	90087660	C	A	C90087660A	IDH2	NM_002168.4(IDH2):c.679-85G>T	noncoding	Benign
15	90088764	A	G	A90088764G	IDH2	NM_002168.4(IDH2):c.374-17T>C	noncoding	Benign
15	90090184	A	G	A90090184G	IDH2	NM_002168.4(IDH2):c.373+295T>C	noncoding	Benign
15	90091367	C	T	C90091367T	IDH2	NM_002168.4(IDH2):c.207+186G>A	noncoding	Benign
15	90091709	A	G	A90091709G	IDH2	NM_002168.4(IDH2):c.116-65T>C	noncoding	Benign
15	90102033	G	A	G90102033A	IDH2	NM_002168.4(IDH2):c.115+243C>T	noncoding	Benign
15	90102172	C	T	C90102172T	IDH2	NM_002168.4(IDH2):c.115+104G>A	noncoding	Benign
15	90102364	G	A	G90102364A	IDH2	NM_002168.4(IDH2):c.27C>T:p.Arg9=	coding	Benign
15	90102375	G	T	G90102375T	IDH2	NM_002168.4(IDH2):c.16C>A:p.Arg6=	coding	Benign
15	90102589	T	A	T90102589A	IDH2	Single_allele	noncoding	Benign
15	90231027	G	C	G90231027C	CIB1	NM_006384.4(CIB1):c.466-5C>G	noncoding	Benign
15	90231394	C	T	C90231394T	CIB1	NM_006384.4(CIB1):c.309G>A:p.Thr103=	coding	Benign
15	90231459	C	T	C90231459T	CIB1	NM_006384.4(CIB1):c.244G>A:p.Ala82Thr	coding	Benign
15	90231489	G	A	G90231489A	CIB1	NM_006384.4(CIB1):c.214C>T:p.Arg72Ter	coding	Pathogenic
15	90232295	T	G	T90232295G	CIB1	NM_006384.4(CIB1):c.119A>C:p.Gln40Pro	coding	Benign
15	90717122	T	G	T90717122G	BLM	NR_120372.1(CRTC3-AS1):n.19A>C	noncoding	Benign
15	90717714	G	C	G90717714C	BLM	NM_000057.4(BLM):c.-5+274G>C	noncoding	Benign
15	90717735	G	C	G90717735C	BLM	NM_000057.4(BLM):c.-5+295G>C	noncoding	Benign
15	90747136	G	C	G90747136C	BLM	NM_000057.4(BLM):c.-4-253G>C	noncoding	Benign
15	90747466	T	G	T90747466G	BLM	NM_000057.4(BLM):c.74T>G:p.Leu25Ter	coding	Pathogenic
15	90747475	C	G	C90747475G	BLM	NM_000057.4(BLM):c.83C>G:p.Ser28Ter	coding	Pathogenic/Likely_pathogenic
15	90749522	G	C	G90749522C	BLM	NM_000057.4(BLM):c.254G>C:p.Arg85Thr	coding	Benign/Likely_benign
15	90749579	C	A	C90749579A	BLM	NM_000057.4(BLM):c.311C>A:p.Ser104Ter	coding	Pathogenic
15	90749851	A	T	A90749851T	BLM	NM_000057.4(BLM):c.583A>T:p.Lys195Ter	coding	Pathogenic
15	90749857	C	T	C90749857T	BLM	NM_000057.4(BLM):c.589C>T:p.Gln197Ter	coding	Pathogenic
15	90749957	G	A	G90749957A	BLM	NM_000057.4(BLM):c.689G>A:p.Trp230Ter	coding	Pathogenic
15	90751667	T	C	T90751667C	BLM	NM_000057.4(BLM):c.800-120T>C	noncoding	Benign
15	90751906	G	T	G90751906T	BLM	NM_000057.4(BLM):c.919G>T:p.Glu307Ter	coding	Pathogenic
15	90754905	G	T	G90754905T	BLM	NM_000057.4(BLM):c.1054G>T:p.Glu352Ter	coding	Pathogenic
15	90754985	T	C	T90754985C	BLM	NM_000057.4(BLM):c.1087+47T>C	noncoding	Benign
15	90760149	A	T	A90760149T	BLM	NM_000057.4(BLM):c.1090A>T:p.Arg364Ter	coding	Pathogenic/Likely_pathogenic
15	90760610	G	T	G90760610T	BLM	NM_000057.4(BLM):c.1237G>T:p.Glu413Ter	coding	Pathogenic
15	90760663	C	A	C90760663A	BLM	NM_000057.4(BLM):c.1290C>A:p.Tyr430Ter	coding	Pathogenic
15	90760862	C	T	C90760862T	BLM	NM_000057.4(BLM):c.1489C>T:p.Gln497Ter	coding	Pathogenic
15	90760865	A	T	A90760865T	BLM	NM_000057.4(BLM):c.1492A>T:p.Lys498Ter	coding	Pathogenic
15	90761001	T	G	T90761001G	BLM	NM_000057.4(BLM):c.1628T>G:p.Leu543Ter	coding	Pathogenic
15	90761073	G	A	G90761073A	BLM	NM_000057.4(BLM):c.1700G>A:p.Trp567Ter	coding	Pathogenic
15	90761105	A	T	A90761105T	BLM	NM_000057.4(BLM):c.1732A>T:p.Lys578Ter	coding	Pathogenic
15	90761238	C	G	C90761238G	BLM	NM_000057.4(BLM):c.1865C>G:p.Ser622Ter	coding	Pathogenic
15	90762947	A	C	A90762947C	BLM	NM_000057.4(BLM):c.1883-19A>C	noncoding	Benign
15	90762972	C	G	C90762972G	BLM	NM_000057.4(BLM):c.1889C>G:p.Ser630Ter	coding	Pathogenic
15	90763437	G	A	G90763437A	BLM	NM_000057.4(BLM):c.2074+280G>A	noncoding	Benign
15	90765120	A	G	A90765120G	BLM	NM_000057.4(BLM):c.2075-176A>G	noncoding	Benign
15	90765388	C	T	C90765388T	BLM	NM_000057.4(BLM):c.2167C>T:p.Gln723Ter	coding	Pathogenic
15	90765475	G	C	G90765475C	BLM	NM_000057.4(BLM):c.2193+61G>C	noncoding	Benign
15	90765498	C	T	C90765498T	BLM	NM_000057.4(BLM):c.2193+84C>T	noncoding	Benign
15	90766977	C	G	C90766977G	BLM	NM_000057.4(BLM):c.2261C>G:p.Ser754Ter	coding	Pathogenic
15	90767008	T	G	T90767008G	BLM	NM_000057.4(BLM):c.2292T>G:p.Tyr764Ter	coding	Pathogenic
15	90769229	C	T	C90769229T	BLM	NM_000057.4(BLM):c.2404C>T:p.Gln802Ter	coding	Pathogenic
15	90769441	G	T	G90769441T	BLM	NM_000057.4(BLM):c.2410G>T:p.Gly804Ter	coding	Pathogenic
15	90782531	T	G	T90782531G	BLM	NM_000057.4(BLM):c.2556-291T>G	noncoding	Benign
15	90782692	C	T	C90782692T	BLM	NM_000057.4(BLM):c.2556-130C>T	noncoding	Benign
15	90782858	C	G	C90782858G	BLM	NM_000057.4(BLM):c.2592C>G:p.Tyr864Ter	coding	Pathogenic
15	90782861	T	A	T90782861A	BLM	NM_000057.4(BLM):c.2595T>A:p.Tyr865Ter	coding	Pathogenic
15	90784983	C	T	C90784983T	BLM	NM_000057.4(BLM):c.2725C>T:p.Gln909Ter	coding	Pathogenic
15	90785052	C	T	C90785052T	BLM	NM_000057.4(BLM):c.2794C>T:p.Gln932Ter	coding	Pathogenic
15	90790861	T	C	T90790861C	BLM	NM_000057.4(BLM):c.3019+17T>C	noncoding	Benign/Likely_benign
15	90790949	G	A	G90790949A	BLM	NM_000057.4(BLM):c.3019+105G>A	noncoding	Benign
15	90791028	T	A	T90791028A	BLM	NM_000057.4(BLM):c.3019+184T>A	noncoding	Benign
15	90793759	C	T	C90793759T	BLM	NM_000057.4(BLM):c.3020-408C>T	noncoding	Benign
15	90793856	G	T	G90793856T	BLM	NM_000057.4(BLM):c.3020-311G>T	noncoding	Benign
15	90793978	G	A	G90793978A	BLM	NM_000057.4(BLM):c.3020-189G>A	noncoding	Benign
15	90794292	G	T	G90794292T	BLM	NM_000057.4(BLM):c.3145G>T:p.Gly1049Ter	coding	Pathogenic
15	90794566	A	G	A90794566G	BLM	NM_000057.4(BLM):c.3210+209A>G	noncoding	Benign
15	90798257	C	G	C90798257G	BLM	NM_000057.4(BLM):c.3278C>G:p.Ser1093Ter	coding	Pathogenic
15	90798260	C	A	C90798260A	BLM	NM_000057.4(BLM):c.3281C>A:p.Ser1094Ter	coding	Pathogenic
15	90803672	T	A	T90803672A	BLM	NM_000057.4(BLM):c.3510T>A:p.Tyr1170Ter	coding	Pathogenic
15	90803905	C	A	C90803905A	BLM	NM_000057.4(BLM):c.3558+185C>A	noncoding	Benign
15	90804072	G	A	G90804072A	BLM	NM_000057.4(BLM):c.3559-95G>A	noncoding	Benign
15	90804242	G	T	G90804242T	BLM	NM_000057.4(BLM):c.3634G>T:p.Glu1212Ter	coding	Pathogenic
15	90804254	A	T	A90804254T	BLM	NM_000057.4(BLM):c.3646A>T:p.Lys1216Ter	coding	Pathogenic
15	90804286	C	A	C90804286A	BLM	NM_000057.4(BLM):c.3678C>A:p.Cys1226Ter	coding	Pathogenic
15	90804525	A	G	A90804525G	BLM	NM_000057.4(BLM):c.3751+166A>G	noncoding	Benign
15	90804554	C	T	C90804554T	BLM	NM_000057.4(BLM):c.3751+195C>T	noncoding	Benign
15	90808967	C	T	C90808967T	BLM	NM_000057.4(BLM):c.3752-170C>T	noncoding	Benign
15	90809018	C	T	C90809018T	BLM	NM_000057.4(BLM):c.3752-119C>T	noncoding	Benign
15	90809143	T	G	T90809143G	BLM	NM_000057.4(BLM):c.3758T>G:p.Leu1253Ter	coding	Pathogenic
15	90809244	G	T	G90809244T	BLM	NM_000057.4(BLM):c.3859G>T:p.Glu1287Ter	coding	Pathogenic
15	90809248	G	A	G90809248A	BLM	NM_000057.4(BLM):c.3863G>A:p.Trp1288Ter	coding	Pathogenic
15	90809249	G	A	G90809249A	BLM	NM_000057.4(BLM):c.3864G>A:p.Trp1288Ter	coding	Pathogenic
15	90809544	A	G	A90809544G	BLM	NM_000057.4(BLM):c.3874+285A>G	noncoding	Benign
15	90811357	C	T	C90811357T	BLM	NM_000057.4(BLM):c.4027C>T:p.Gln1343Ter	coding	Pathogenic
15	90811410	T	G	T90811410G	BLM	NM_000057.4(BLM):c.4076+4T>G	noncoding	Benign/Likely_benign
15	90811552	A	G	A90811552G	BLM	NM_000057.4(BLM):c.4076+146A>G	noncoding	Benign
15	90811684	G	A	G90811684A	BLM	NM_000057.4(BLM):c.4076+278G>A	noncoding	Benign
15	90814972	G	A	G90814972A	BLM	NM_000057.4(BLM):c.4077-130G>A	noncoding	Benign
15	90873320	C	A	C90873320A	FURIN	NM_002569.4(FURIN):c.-159-2262C>A	noncoding	Benign
15	90904279	C	T	C90904279T	MAN2A2	NM_006122.4(MAN2A2):c.72C>T:p.Leu24=	coding	Benign
15	90909365	A	G	A90909365G	MAN2A2	NM_006122.4(MAN2A2):c.1235A>G:p.Gln412Arg	coding	Benign
15	90910880	C	T	C90910880T	MAN2A2	NM_006122.4(MAN2A2):c.1794C>T:p.Val598=	coding	Benign
15	90912091	C	T	C90912091T	MAN2A2	NM_006122.4(MAN2A2):c.2158C>T:p.Leu720=	coding	Benign
15	90936326	C	T	C90936326T	UNC45A	NM_018671.5(UNC45A):c.292C>T:p.Arg98Trp	coding	Pathogenic
15	90936439	C	T	C90936439T	UNC45A	NM_018671.5(UNC45A):c.405C>T:p.Ile135=	coding	Benign
15	90939714	T	C	T90939714C	UNC45A	NM_018671.5(UNC45A):c.427-17T>C	noncoding	Benign
15	90940290	G	A	G90940290A	UNC45A	NM_018671.5(UNC45A):c.520-16G>A	noncoding	Benign
15	90940301	C	T	C90940301T	UNC45A	NM_018671.5(UNC45A):c.520-5C>T	noncoding	Benign
15	90942433	C	A	C90942433A	UNC45A	NM_018671.5(UNC45A):c.688-4C>A	noncoding	Benign
15	90942458	C	T	C90942458T	UNC45A	NM_018671.5(UNC45A):c.709C>T:p.Leu237=	coding	Benign
15	90942468	G	C	G90942468C	UNC45A	NM_018671.5(UNC45A):c.719G>C:p.Arg240Pro	coding	Benign
15	90942500	C	G	C90942500G	UNC45A	NM_018671.5(UNC45A):c.751C>G:p.Gln251Glu	coding	Benign
15	90942578	C	T	C90942578T	UNC45A	NM_018671.5(UNC45A):c.829C>T:p.Arg277Ter	coding	Pathogenic
15	90943020	C	T	C90943020T	UNC45A	NM_018671.5(UNC45A):c.965C>T:p.Ala322Val	coding	Benign
15	90943039	C	G	C90943039G	UNC45A	NM_018671.5(UNC45A):c.984C>G:p.Leu328=	coding	Benign
15	90943075	C	T	C90943075T	UNC45A	NM_018671.5(UNC45A):c.1020C>T:p.Ile340=	coding	Benign
15	90944892	G	T	G90944892T	UNC45A	NM_018671.5(UNC45A):c.1028G>T:p.Gly343Val	coding	Pathogenic
15	90944956	C	T	C90944956T	UNC45A	NM_018671.5(UNC45A):c.1092C>T:p.Thr364=	coding	Benign
15	90946689	A	G	A90946689G	UNC45A	NM_018671.5(UNC45A):c.1275A>G:p.Pro425=	coding	Benign
15	90946727	T	A	T90946727A	UNC45A	NM_018671.5(UNC45A):c.1313T>A:p.Val438Asp	coding	Pathogenic
15	90946728	C	T	C90946728T	UNC45A	NM_018671.5(UNC45A):c.1314C>T:p.Val438=	coding	Benign
15	90946809	C	T	C90946809T	UNC45A	NM_018671.5(UNC45A):c.1395C>T:p.Ala465=	coding	Benign
15	90948704	C	T	C90948704T	UNC45A	NM_018671.5(UNC45A):c.1788C>T:p.Cys596=	coding	Benign
15	90948732	G	A	G90948732A	UNC45A	NM_018671.5(UNC45A):c.1816G>A:p.Asp606Asn	coding	Benign
15	90948804	C	T	C90948804T	UNC45A	NM_018671.5(UNC45A):c.1878+10C>T	noncoding	Benign
15	90949327	C	T	C90949327T	UNC45A	NM_018671.5(UNC45A):c.1890C>T:p.Ser630=	coding	Benign
15	90949639	G	A	G90949639A	UNC45A	NM_018671.5(UNC45A):c.2007-15G>A	noncoding	Benign
15	90949647	C	T	C90949647T	UNC45A	NM_018671.5(UNC45A):c.2007-7C>T	noncoding	Benign
15	90950240	C	G	C90950240G	UNC45A	NM_018671.5(UNC45A):c.2160C>G:p.Asn720Lys	coding	Benign
15	90950243	G	A	G90950243A	UNC45A	NM_018671.5(UNC45A):c.2163G>A:p.Pro721=	coding	Benign
15	90953012	C	T	C90953012T	UNC45A	NM_018671.5(UNC45A):c.2387C>T:p.Thr796Met	coding	Benign
15	90953013	G	A	G90953013A	UNC45A	NM_018671.5(UNC45A):c.2388G>A:p.Thr796=	coding	Benign
15	90953507	C	T	C90953507T	UNC45A	NM_018671.5(UNC45A):c.2626C>T:p.Gln876Ter	coding	Pathogenic
15	90953559	C	T	C90953559T	UNC45A	NM_018671.5(UNC45A):c.2678C>T:p.Ser893Leu	coding	Pathogenic
15	90999107	C	T	C90999107T	VPS33B	NM_018668.5(VPS33B):c.1775-53G>A	noncoding	Benign
15	90999509	G	C	G90999509C	VPS33B	NM_018668.5(VPS33B):c.1774+168C>G	noncoding	Benign
15	90999565	C	T	C90999565T	VPS33B	NM_018668.5(VPS33B):c.1774+112G>A	noncoding	Benign
15	90999571	C	T	C90999571T	VPS33B	NM_018668.5(VPS33B):c.1774+106G>A	noncoding	Benign
15	91000177	C	T	C91000177T	VPS33B	NM_018668.5(VPS33B):c.1582-202G>A	noncoding	Benign
15	91000552	G	A	G91000552A	VPS33B	NM_018668.5(VPS33B):c.1519C>T:p.Arg507Ter	coding	Pathogenic
15	91000846	A	G	A91000846G	VPS33B	NM_018668.5(VPS33B):c.1480-255T>C	noncoding	Benign
15	91001187	A	G	A91001187G	VPS33B	NM_018668.5(VPS33B):c.1479+202T>C	noncoding	Benign
15	91001601	C	T	C91001601T	VPS33B	NM_018668.5(VPS33B):c.1406-139G>A	noncoding	Benign
15	91001615	C	T	C91001615T	VPS33B	NM_018668.5(VPS33B):c.1406-153G>A	noncoding	Benign
15	91001670	C	T	C91001670T	VPS33B	NM_018668.5(VPS33B):c.1406-208G>A	noncoding	Benign
15	91001981	C	T	C91001981T	VPS33B	NM_018668.5(VPS33B):c.1405+69G>A	noncoding	Benign
15	91002014	C	T	C91002014T	VPS33B	NM_018668.5(VPS33B):c.1405+36G>A	noncoding	Benign/Likely_benign
15	91002233	T	C	T91002233C	VPS33B	NM_018668.5(VPS33B):c.1273-51A>G	noncoding	Benign
15	91002305	T	C	T91002305C	VPS33B	NM_018668.5(VPS33B):c.1273-123A>G	noncoding	Benign
15	91002882	G	A	G91002882A	VPS33B	NM_018668.5(VPS33B):c.1272+203C>T	noncoding	Benign
15	91003237	T	A	T91003237A	VPS33B	NM_018668.5(VPS33B):c.1226-106A>T	noncoding	Benign
15	91003267	T	G	T91003267G	VPS33B	NM_018668.5(VPS33B):c.1226-136A>C	noncoding	Benign
15	91003383	G	A	G91003383A	VPS33B	NM_018668.5(VPS33B):c.1226-252C>T	noncoding	Benign
15	91005345	C	T	C91005345T	VPS33B	NM_018668.5(VPS33B):c.1105+35G>A	noncoding	Benign
15	91006592	G	C	G91006592C	VPS33B	NM_018668.5(VPS33B):c.778+60C>G	noncoding	Benign
15	91007434	G	A	G91007434A	VPS33B	NM_018668.5(VPS33B):c.603+35C>T	noncoding	Benign
15	91007723	C	G	C91007723G	VPS33B	NM_018668.5(VPS33B):c.498+147G>C	noncoding	Benign
15	91008230	A	G	A91008230G	VPS33B	NM_018668.5(VPS33B):c.404-266T>C	noncoding	Benign
15	91009729	G	A	G91009729A	VPS33B	NM_018668.5(VPS33B):c.403+72C>T	noncoding	Benign
15	91010073	C	T	C91010073T	VPS33B	NM_018668.5(VPS33B):c.358-227G>A	noncoding	Benign
15	91010152	G	C	G91010152C	VPS33B	NM_018668.5(VPS33B):c.358-306C>G	noncoding	Benign
15	91013956	C	T	C91013956T	VPS33B	NM_018668.5(VPS33B):c.290-85G>A	noncoding	Benign
15	91014396	G	A	G91014396A	VPS33B	NM_018668.5(VPS33B):c.277C>T:p.Arg93Ter	coding	Pathogenic
15	91014434	C	G	C91014434G	VPS33B	NM_018668.5(VPS33B):c.240-1G>C	coding	Pathogenic
15	91016691	A	G	A91016691G	VPS33B	NM_018668.5(VPS33B):c.239+272T>C	noncoding	Benign
15	91016848	T	C	T91016848C	VPS33B	NM_018668.5(VPS33B):c.239+115A>G	noncoding	Benign
15	91016903	G	A	G91016903A	VPS33B	NM_018668.5(VPS33B):c.239+60C>T	noncoding	Benign
15	91017137	G	T	G91017137T	VPS33B	NM_018668.5(VPS33B):c.178-113C>A	noncoding	Benign
15	91017952	C	T	C91017952T	VPS33B	NM_018668.5(VPS33B):c.97-67G>A	noncoding	Benign
15	91022166	A	T	A91022166T	VPS33B	NM_018668.5(VPS33B):c.84T>A:p.Tyr28Ter	coding	Pathogenic
15	91022183	G	A	G91022183A	VPS33B	NM_018668.5(VPS33B):c.67C>T:p.Arg23Ter	coding	Pathogenic
15	91268519	G	A	G91268519A	SV2B	NM_001323032.3(SV2B):c.1287G>A:p.Val429=	coding	Benign
15	92901339	T	G	T92901339G	CHD2	NM_001271.4(CHD2):c.62+40T>G	noncoding	Benign
15	92924519	C	G	C92924519G	CHD2	NM_001271.4(CHD2):c.261C>G:p.Ala87=	coding	Benign/Likely_benign
15	92924555	A	G	A92924555G	CHD2	NM_001271.4(CHD2):c.294+3A>G	noncoding	Pathogenic
15	92927214	A	G	A92927214G	CHD2	NM_001271.4(CHD2):c.295-30A>G	noncoding	Benign
15	92927222	G	A	G92927222A	CHD2	NM_001271.4(CHD2):c.295-22G>A	noncoding	Benign
15	92927224	G	A	G92927224A	CHD2	NM_001271.4(CHD2):c.295-20G>A	noncoding	Benign/Likely_benign
15	92937638	C	T	C92937638T	CHD2	NM_001271.4(CHD2):c.551+13C>T	noncoding	Benign
15	92937806	G	A	G92937806A	CHD2	NM_001271.4(CHD2):c.551+181G>A	noncoding	Benign
15	92939554	C	T	C92939554T	CHD2	NM_001271.4(CHD2):c.552-24C>T	noncoding	Benign
15	92939618	C	T	C92939618T	CHD2	NM_001271.4(CHD2):c.592C>T:p.Gln198Ter	coding	Pathogenic
15	92939946	A	T	A92939946T	CHD2	NM_001271.4(CHD2):c.692+228A>T	noncoding	Benign
15	92941935	C	G	C92941935G	CHD2	NM_001271.4(CHD2):c.806C>G:p.Ser269Ter	coding	Pathogenic
15	92942697	G	C	G92942697C	CHD2	NM_001271.4(CHD2):c.827-146G>C	noncoding	Benign
15	92942907	C	T	C92942907T	CHD2	NM_001271.4(CHD2):c.891C>T:p.Asp297=	coding	Benign/Likely_benign
15	92943159	G	A	G92943159A	CHD2	NM_001271.4(CHD2):c.1052+91G>A	noncoding	Benign
15	92944369	C	T	C92944369T	CHD2	NM_001271.4(CHD2):c.1053-46C>T	noncoding	Benign
15	92944414	G	C	G92944414C	CHD2	NM_001271.4(CHD2):c.1053-1G>C	noncoding	Pathogenic
15	92944458	C	T	C92944458T	CHD2	NM_001271.4(CHD2):c.1096C>T:p.Gln366Ter	coding	Pathogenic
15	92946053	C	T	C92946053T	CHD2	NM_001271.4(CHD2):c.1214C>T:p.Pro405Leu	coding	Benign/Likely_benign
15	92946258	T	C	T92946258C	CHD2	NM_001271.4(CHD2):c.1377+42T>C	noncoding	Benign
15	92948961	C	T	C92948961T	CHD2	NM_001271.4(CHD2):c.1387C>T:p.Gln463Ter	coding	Pathogenic
15	92948991	C	T	C92948991T	CHD2	NM_001271.4(CHD2):c.1417C>T:p.Gln473Ter	coding	Pathogenic
15	92949048	C	T	C92949048T	CHD2	NM_001271.4(CHD2):c.1474C>T:p.Leu492=	coding	Benign/Likely_benign
15	92953350	T	C	T92953350C	CHD2	NM_001271.4(CHD2):c.1503-7T>C	noncoding	Benign
15	92953644	C	T	C92953644T	CHD2	NM_001271.4(CHD2):c.1719+71C>T	noncoding	Benign
15	92955353	A	G	A92955353G	CHD2	NM_001271.4(CHD2):c.1720-70A>G	noncoding	Benign
15	92956456	T	C	T92956456C	CHD2	NM_001271.4(CHD2):c.1810-3T>C	noncoding	Benign/Likely_benign
15	92956482	G	A	G92956482A	CHD2	NM_001271.4(CHD2):c.1833G>A:p.Trp611Ter	coding	Pathogenic
15	92956583	C	T	C92956583T	CHD2	NM_001271.4(CHD2):c.1934C>T:p.Thr645Met	coding	Pathogenic/Likely_pathogenic
15	92956673	A	G	A92956673G	CHD2	NM_001271.4(CHD2):c.2000+24A>G	noncoding	Benign
15	92956677	G	A	G92956677A	CHD2	NM_001271.4(CHD2):c.2000+28G>A	noncoding	Benign
15	92967295	C	T	C92967295T	CHD2	NM_001271.4(CHD2):c.2001-30C>T	noncoding	Benign
15	92967310	C	G	C92967310G	CHD2	NM_001271.4(CHD2):c.2001-15C>G	noncoding	Benign/Likely_benign
15	92967514	G	T	G92967514T	CHD2	NM_001271.4(CHD2):c.2189+1G>T	coding	Pathogenic
15	92971621	C	G	C92971621G	CHD2	NM_001271.4(CHD2):c.2190-144C>G	noncoding	Benign
15	92971674	A	G	A92971674G	CHD2	NM_001271.4(CHD2):c.2190-91A>G	noncoding	Benign
15	92971964	C	T	C92971964T	CHD2	NM_001271.4(CHD2):c.2352+37C>T	noncoding	Benign
15	92972322	C	T	C92972322T	CHD2	NM_001271.4(CHD2):c.2410C>T:p.Arg804Ter	coding	Pathogenic
15	92972440	T	C	T92972440C	CHD2	NM_001271.4(CHD2):c.2505+23T>C	noncoding	Benign
15	92972456	C	G	C92972456G	CHD2	NM_001271.4(CHD2):c.2505+39C>G	noncoding	Benign
15	92974833	A	G	A92974833G	CHD2	NM_001271.4(CHD2):c.2506-46A>G	noncoding	Benign
15	92974909	C	G	C92974909G	CHD2	NM_001271.4(CHD2):c.2536C>G:p.Arg846Gly	coding	Pathogenic
15	92974909	C	T	C92974909T	CHD2	NM_001271.4(CHD2):c.2536C>T:p.Arg846Ter	coding	Pathogenic
15	92974969	T	C	T92974969C	CHD2	NM_001271.4(CHD2):c.2577+19T>C	noncoding	Benign/Likely_benign
15	92978292	C	T	C92978292T	CHD2	NM_001271.4(CHD2):c.2636C>T:p.Ala879Val	coding	Pathogenic/Likely_pathogenic
15	92978342	C	G	C92978342G	CHD2	NM_001271.4(CHD2):c.2686C>G:p.Gln896Glu	coding	Pathogenic
15	92978342	C	T	C92978342T	CHD2	NM_001271.4(CHD2):c.2686C>T:p.Gln896Ter	coding	Pathogenic
15	92978354	C	G	C92978354G	CHD2	NM_001271.4(CHD2):c.2698C>G:p.Arg900Gly	coding	Pathogenic
15	92978354	C	T	C92978354T	CHD2	NM_001271.4(CHD2):c.2698C>T:p.Arg900Ter	coding	Pathogenic
15	92978421	T	G	T92978421G	CHD2	NM_001271.4(CHD2):c.2727+38T>G	noncoding	Benign
15	92979091	G	A	G92979091A	CHD2	NM_001271.4(CHD2):c.2728-44G>A	noncoding	Benign
15	92979228	C	T	C92979228T	CHD2	NM_001271.4(CHD2):c.2821C>T:p.Gln941Ter	coding	Pathogenic
15	92979294	G	A	G92979294A	CHD2	NM_001271.4(CHD2):c.2876+11G>A	noncoding	Benign
15	92979529	T	C	T92979529C	CHD2	NM_001271.4(CHD2):c.2876+246T>C	noncoding	Benign
15	92980768	T	G	T92980768G	CHD2	NM_001271.4(CHD2):c.2877-47T>G	noncoding	Benign
15	92980915	A	G	A92980915G	CHD2	NM_001271.4(CHD2):c.2973+4A>G	noncoding	Benign/Likely_benign
15	92981198	T	G	T92981198G	CHD2	NM_001271.4(CHD2):c.2974-167T>G	noncoding	Benign
15	92981315	A	G	A92981315G	CHD2	NM_001271.4(CHD2):c.2974-50A>G	noncoding	Benign
15	92981478	G	A	G92981478A	CHD2	NM_001271.4(CHD2):c.3066+21G>A	noncoding	Benign
15	92981620	G	C	G92981620C	CHD2	NM_001271.4(CHD2):c.3066+163G>C	noncoding	Benign
15	92984363	G	T	G92984363T	CHD2	NM_001271.4(CHD2):c.3100G>T:p.Glu1034Ter	coding	Pathogenic
15	92984613	G	A	G92984613A	CHD2	NM_001271.4(CHD2):c.3237+113G>A	noncoding	Benign
15	92985715	C	T	C92985715T	CHD2	NM_001271.4(CHD2):c.3413+42C>T	noncoding	Benign
15	92991536	T	C	T92991536C	CHD2	NM_001271.4(CHD2):c.3455+19T>C	noncoding	Benign/Likely_benign
15	92992828	C	T	C92992828T	CHD2	NM_001271.4(CHD2):c.3456-31C>T	noncoding	Benign
15	92992955	A	G	A92992955G	CHD2	NM_001271.4(CHD2):c.3552A>G:p.Ala1184=	coding	Benign/Likely_benign
15	92993049	G	A	G92993049A	CHD2	NM_001271.4(CHD2):c.3595+51G>A	noncoding	Benign
15	92997301	G	T	G92997301T	CHD2	NM_001271.4(CHD2):c.3783G>T:p.Trp1261Cys	coding	Pathogenic
15	92998475	G	A	G92998475A	CHD2	NM_001271.4(CHD2):c.3886-24G>A	noncoding	Benign
15	92998485	C	T	C92998485T	CHD2	NM_001271.4(CHD2):c.3886-14C>T	noncoding	Benign/Likely_benign
15	92998551	G	C	G92998551C	CHD2	NM_001271.4(CHD2):c.3938G>C:p.Arg1313Pro	coding	Pathogenic
15	92998770	C	G	C92998770G	CHD2	NM_001271.4(CHD2):c.4008+149C>G	noncoding	Benign
15	92998849	T	C	T92998849C	CHD2	NM_001271.4(CHD2):c.4008+228T>C	noncoding	Benign
15	93000508	C	T	C93000508T	CHD2	NM_001271.4(CHD2):c.4009-4C>T	noncoding	Benign/Likely_benign
15	93000581	G	A	G93000581A	CHD2	NM_001271.4(CHD2):c.4078G>A:p.Gly1360Arg	coding	Benign/Likely_benign
15	93000686	A	G	A93000686G	CHD2	NM_001271.4(CHD2):c.4137+46A>G	noncoding	Benign
15	93002322	T	C	T93002322C	CHD2	NM_001271.4(CHD2):c.4278+5T>C	noncoding	Benign/Likely_benign
15	93002369	A	G	A93002369G	CHD2	NM_001271.4(CHD2):c.4278+52A>G	noncoding	Benign
15	93004496	T	A	T93004496A	CHD2	NM_001271.4(CHD2):c.4279-121T>A	noncoding	Benign
15	93004789	C	T	C93004789T	CHD2	NM_001271.4(CHD2):c.4413+38C>T	noncoding	Benign
15	93009100	C	T	C93009100T	CHD2	NM_001271.4(CHD2):c.4414-45C>T	noncoding	Benign
15	93009214	G	A	G93009214A	CHD2	NM_001271.4(CHD2):c.4483G>A:p.Val1495Met	coding	Benign/Likely_benign
15	93009264	C	T	C93009264T	CHD2	NM_001271.4(CHD2):c.4533C>T:p.Asp1511=	coding	Benign/Likely_benign
15	93009318	G	A	G93009318A	CHD2	NM_001271.4(CHD2):c.4587G>A:p.Trp1529Ter	coding	Pathogenic
15	93009426	C	T	C93009426T	CHD2	NM_001271.4(CHD2):c.4592+103C>T	noncoding	Benign
15	93014649	A	G	A93014649G	CHD2	NM_001271.4(CHD2):c.4693-47A>G	noncoding	Benign
15	93014671	T	G	T93014671G	CHD2	NM_001271.4(CHD2):c.4693-25T>G	noncoding	Benign
15	93014765	C	T	C93014765T	CHD2	NM_001271.4(CHD2):c.4762C>T:p.Arg1588Trp	coding	Benign/Likely_benign
15	93019966	T	A	T93019966A	CHD2	NM_001271.4(CHD2):c.4907-46T>A	noncoding	Benign
15	93020058	C	T	C93020058T	CHD2	NM_001271.4(CHD2):c.4953C>T:p.Gly1651=	coding	Benign/Likely_benign
15	93020205	T	G	T93020205G	CHD2	NM_001271.4(CHD2):c.5100T>G:p.Tyr1700Ter	coding	Pathogenic
15	93020259	G	T	G93020259T	CHD2	NM_001271.4(CHD2):c.5153+1G>T	coding	Pathogenic
15	93020328	T	C	T93020328C	CHD2	NM_001271.4(CHD2):c.5153+70T>C	noncoding	Benign
15	93020366	C	G	C93020366G	CHD2	NM_001271.4(CHD2):c.5153+108C>G	noncoding	Benign
15	93020431	G	C	G93020431C	CHD2	NM_001271.4(CHD2):c.5153+173G>C	noncoding	Benign
15	93024296	G	A	G93024296A	CHD2	NM_001271.4(CHD2):c.5154-76G>A	noncoding	Benign
15	96326466	G	T	G96326466T	NR2F2	NM_001145155.2(NR2F2):c.43+114G>T	noncoding	Benign
15	96331144	C	T	C96331144T	NR2F2	NM_021005.4(NR2F2):c.-962C>T	coding	Benign
15	96332041	C	T	C96332041T	NR2F2	NM_021005.4(NR2F2):c.-65C>T	coding	Benign
15	96332548	G	T	G96332548T	NR2F2	NM_021005.4(NR2F2):c.442+1G>T	coding	Pathogenic
15	96334237	C	T	C96334237T	NR2F2	NM_021005.4(NR2F2):c.604C>T:p.Gln202Ter	coding	Pathogenic
15	96334621	C	A	C96334621A	NR2F2	NM_021005.4(NR2F2):c.970+18C>A	noncoding	Benign
15	96334870	C	T	C96334870T	NR2F2	NM_021005.4(NR2F2):c.970+267C>T	noncoding	Benign
15	97961092	C	T	C97961092T	ARRDC4	NM_183376.3(ARRDC4):c.231C>T:p.Ala77=	coding	Benign
15	97961096	A	G	A97961096G	ARRDC4	NM_183376.3(ARRDC4):c.235A>G:p.Thr79Ala	coding	Benign
15	98708055	C	G	C98708055G	IGF1R	NM_000875.5(IGF1R):c.588C>G:p.Thr196=	coding	Benign
15	98708127	C	T	C98708127T	IGF1R	NM_000875.5(IGF1R):c.640+20C>T	noncoding	Benign
15	98896896	C	T	C98896896T	IGF1R	NM_000875.5(IGF1R):c.1093C>T:p.Arg365Ter	coding	Pathogenic/Likely_pathogenic
15	98924701	G	A	G98924701A	IGF1R	NM_000875.5(IGF1R):c.2782+17G>A	noncoding	Benign
15	98929675	A	G	A98929675G	IGF1R	NM_000875.5(IGF1R):c.2885+15A>G	noncoding	Benign/Likely_benign
15	98935319	C	T	C98935319T	IGF1R	NM_000875.5(IGF1R):c.3190C>T:p.Arg1064Ter	coding	Pathogenic
15	99129812	G	A	G99129812A	SYNM	NM_145728.3(SYNM):c.1452G>A:p.Ser484=	coding	Benign
15	99218714	C	A	C99218714A	TTC23	NM_001288615.3(TTC23):c.456-1G>T	coding	Benign
15	99974311	G	T	G99974311T	ADAMTS17	NM_139057.4(ADAMTS17):c.*91C>A	noncoding	Benign
15	99974312	G	T	G99974312T	ADAMTS17	NM_139057.4(ADAMTS17):c.*90C>A	noncoding	Benign
15	99974568	G	A	G99974568A	ADAMTS17	NM_139057.4(ADAMTS17):c.3128-6C>T	noncoding	Benign/Likely_benign
15	99974574	G	A	G99974574A	ADAMTS17	NM_139057.4(ADAMTS17):c.3128-12C>T	noncoding	Benign/Likely_benign
15	99974677	C	T	C99974677T	ADAMTS17	NM_139057.4(ADAMTS17):c.3128-115G>A	noncoding	Benign
15	99975754	T	A	T99975754A	ADAMTS17	NM_139057.4(ADAMTS17):c.3127+291A>T	noncoding	Benign
15	99975780	G	T	G99975780T	ADAMTS17	NM_139057.4(ADAMTS17):c.3127+265C>A	noncoding	Benign
15	99976267	G	A	G99976267A	ADAMTS17	NM_139057.4(ADAMTS17):c.2950-45C>T	noncoding	Benign
15	99992858	A	G	A99992858G	ADAMTS17	NM_139057.4(ADAMTS17):c.2949+190T>C	noncoding	Benign
15	99993006	T	C	T99993006C	ADAMTS17	NM_139057.4(ADAMTS17):c.2949+42A>G	noncoding	Benign
15	99993013	C	T	C99993013T	ADAMTS17	NM_139057.4(ADAMTS17):c.2949+35G>A	noncoding	Benign
15	99993031	C	T	C99993031T	ADAMTS17	NM_139057.4(ADAMTS17):c.2949+17G>A	noncoding	Benign
15	99993409	G	A	G99993409A	ADAMTS17	NM_139057.4(ADAMTS17):c.2797-209C>T	noncoding	Benign
15	99993414	C	A	C99993414A	ADAMTS17	NM_139057.4(ADAMTS17):c.2797-214G>T	noncoding	Benign
15	99997289	C	T	C99997289T	ADAMTS17	NM_139057.4(ADAMTS17):c.2796+96G>A	noncoding	Benign
15	99997510	G	A	G99997510A	ADAMTS17	NM_139057.4(ADAMTS17):c.2671C>T:p.Gln891Ter	coding	Pathogenic
15	99997605	A	G	A99997605G	ADAMTS17	NM_139057.4(ADAMTS17):c.2592-16T>C	noncoding	Benign
15	99997607	A	G	A99997607G	ADAMTS17	NM_139057.4(ADAMTS17):c.2592-18T>C	noncoding	Benign
15	99997608	G	C	G99997608C	ADAMTS17	NM_139057.4(ADAMTS17):c.2592-19C>G	noncoding	Benign
15	100049274	C	T	C100049274T	ADAMTS17	NM_139057.4(ADAMTS17):c.2456-282G>A	noncoding	Benign
15	100049309	A	T	A100049309T	ADAMTS17	NM_139057.4(ADAMTS17):c.2456-317T>A	noncoding	Benign
15	100051331	T	C	T100051331C	ADAMTS17	NM_139057.4(ADAMTS17):c.2455+241A>G	noncoding	Benign
15	100051561	C	T	C100051561T	ADAMTS17	NM_139057.4(ADAMTS17):c.2455+11G>A	noncoding	Benign
15	100051787	A	T	A100051787T	ADAMTS17	NM_139057.4(ADAMTS17):c.2296-56T>A	noncoding	Benign
15	100051814	T	C	T100051814C	ADAMTS17	NM_139057.4(ADAMTS17):c.2296-83A>G	noncoding	Benign
15	100051816	C	T	C100051816T	ADAMTS17	NM_139057.4(ADAMTS17):c.2296-85G>A	noncoding	Benign
15	100053689	G	A	G100053689A	ADAMTS17	NM_139057.4(ADAMTS17):c.2295+208C>T	noncoding	Benign
15	100053793	A	G	A100053793G	ADAMTS17	NM_139057.4(ADAMTS17):c.2295+104T>C	noncoding	Benign
15	100054094	G	C	G100054094C	ADAMTS17	NM_139057.4(ADAMTS17):c.2138-40C>G	noncoding	Benign
15	100054177	G	A	G100054177A	ADAMTS17	NM_139057.4(ADAMTS17):c.2138-123C>T	noncoding	Benign
15	100054211	A	G	A100054211G	ADAMTS17	NM_139057.4(ADAMTS17):c.2138-157T>C	noncoding	Benign
15	100096021	G	T	G100096021T	ADAMTS17	NM_139057.4(ADAMTS17):c.2137+335C>A	noncoding	Benign
15	100096027	C	T	C100096027T	ADAMTS17	NM_139057.4(ADAMTS17):c.2137+329G>A	noncoding	Benign
15	100096046	T	C	T100096046C	ADAMTS17	NM_139057.4(ADAMTS17):c.2137+310A>G	noncoding	Benign
15	100096047	G	A	G100096047A	ADAMTS17	NM_139057.4(ADAMTS17):c.2137+309C>T	noncoding	Benign
15	100096708	G	T	G100096708T	ADAMTS17	NM_139057.4(ADAMTS17):c.2017-232C>A	noncoding	Benign
15	100108787	T	C	T100108787C	ADAMTS17	NM_139057.4(ADAMTS17):c.2016+202A>G	noncoding	Benign
15	100108805	A	T	A100108805T	ADAMTS17	NM_139057.4(ADAMTS17):c.2016+184T>A	noncoding	Benign
15	100108970	C	T	C100108970T	ADAMTS17	NM_139057.4(ADAMTS17):c.2016+19G>A	noncoding	Benign
15	100109160	C	T	C100109160T	ADAMTS17	NM_139057.4(ADAMTS17):c.1889-44G>A	noncoding	Benign
15	100109268	C	T	C100109268T	ADAMTS17	NM_139057.4(ADAMTS17):c.1889-152G>A	noncoding	Benign
15	100109307	A	T	A100109307T	ADAMTS17	NM_139057.4(ADAMTS17):c.1889-191T>A	noncoding	Benign
15	100109323	A	T	A100109323T	ADAMTS17	NM_139057.4(ADAMTS17):c.1889-207T>A	noncoding	Benign
15	100109387	A	C	A100109387C	ADAMTS17	NM_139057.4(ADAMTS17):c.1889-271T>G	noncoding	Benign
15	100109394	C	T	C100109394T	ADAMTS17	NM_139057.4(ADAMTS17):c.1889-278G>A	noncoding	Benign
15	100109402	A	C	A100109402C	ADAMTS17	NM_139057.4(ADAMTS17):c.1889-286T>G	noncoding	Benign
15	100109405	A	C	A100109405C	ADAMTS17	NM_139057.4(ADAMTS17):c.1889-289T>G	noncoding	Benign
15	100117171	C	T	C100117171T	ADAMTS17	NM_139057.4(ADAMTS17):c.1722-158G>A	noncoding	Benign
15	100117186	C	T	C100117186T	ADAMTS17	NM_139057.4(ADAMTS17):c.1722-173G>A	noncoding	Benign
15	100131758	C	T	C100131758T	ADAMTS17	NM_139057.4(ADAMTS17):c.1721+249G>A	noncoding	Benign
15	100131762	G	A	G100131762A	ADAMTS17	NM_139057.4(ADAMTS17):c.1721+245C>T	noncoding	Benign
15	100132203	A	G	A100132203G	ADAMTS17	NM_139057.4(ADAMTS17):c.1576-51T>C	noncoding	Benign
15	100132342	T	A	T100132342A	ADAMTS17	NM_139057.4(ADAMTS17):c.1576-190A>T	noncoding	Benign
15	100132422	G	T	G100132422T	ADAMTS17	NM_139057.4(ADAMTS17):c.1576-270C>A	noncoding	Benign
15	100132895	T	C	T100132895C	ADAMTS17	NM_139057.4(ADAMTS17):c.1575+319A>G	noncoding	Benign
15	100152486	C	G	C100152486G	ADAMTS17	NM_139057.4(ADAMTS17):c.1473+126G>C	noncoding	Benign
15	100152577	C	G	C100152577G	ADAMTS17	NM_139057.4(ADAMTS17):c.1473+35G>C	noncoding	Benign
15	100152874	T	C	T100152874C	ADAMTS17	NM_139057.4(ADAMTS17):c.1323-112A>G	noncoding	Benign
15	100152942	T	G	T100152942G	ADAMTS17	NM_139057.4(ADAMTS17):c.1323-180A>C	noncoding	Benign
15	100152954	A	C	A100152954C	ADAMTS17	NM_139057.4(ADAMTS17):c.1323-192T>G	noncoding	Benign
15	100152967	C	A	C100152967A	ADAMTS17	NM_139057.4(ADAMTS17):c.1323-205G>T	noncoding	Benign
15	100152971	C	G	C100152971G	ADAMTS17	NM_139057.4(ADAMTS17):c.1323-209G>C	noncoding	Benign
15	100154945	G	A	G100154945A	ADAMTS17	NM_139057.4(ADAMTS17):c.1322+235C>T	noncoding	Benign
15	100154977	G	A	G100154977A	ADAMTS17	NM_139057.4(ADAMTS17):c.1322+203C>T	noncoding	Benign
15	100154981	G	A	G100154981A	ADAMTS17	NM_139057.4(ADAMTS17):c.1322+199C>T	noncoding	Benign
15	100155041	G	A	G100155041A	ADAMTS17	NM_139057.4(ADAMTS17):c.1322+139C>T	noncoding	Benign
15	100155142	T	C	T100155142C	ADAMTS17	NM_139057.4(ADAMTS17):c.1322+38A>G	noncoding	Benign
15	100155200	A	G	A100155200G	ADAMTS17	NM_139057.4(ADAMTS17):c.1302T>C:p.Asp434=	coding	Benign/Likely_benign
15	100155428	G	T	G100155428T	ADAMTS17	NM_139057.4(ADAMTS17):c.1182-108C>A	noncoding	Benign
15	100199137	G	A	G100199137A	ADAMTS17	NM_139057.4(ADAMTS17):c.1181+181C>T	noncoding	Benign
15	100199200	T	C	T100199200C	ADAMTS17	NM_139057.4(ADAMTS17):c.1181+118A>G	noncoding	Benign
15	100199651	G	A	G100199651A	ADAMTS17	NM_139057.4(ADAMTS17):c.1076-228C>T	noncoding	Benign
15	100199772	C	G	C100199772G	ADAMTS17	NM_139057.4(ADAMTS17):c.1076-349G>C	noncoding	Benign
15	100253824	G	A	G100253824A	ADAMTS17	NM_139057.4(ADAMTS17):c.1075+312C>T	noncoding	Benign
15	100253967	T	A	T100253967A	ADAMTS17	NM_139057.4(ADAMTS17):c.1075+169A>T	noncoding	Benign
15	100254135	C	A	C100254135A	ADAMTS17	NM_139057.4(ADAMTS17):c.1075+1G>T	noncoding	Pathogenic
15	100254269	C	T	C100254269T	ADAMTS17	NM_139057.4(ADAMTS17):c.1032-90G>A	noncoding	Benign
15	100254415	G	A	G100254415A	ADAMTS17	NM_139057.4(ADAMTS17):c.1032-236C>T	noncoding	Benign
15	100261237	A	G	A100261237G	ADAMTS17	NM_139057.4(ADAMTS17):c.1031+242T>C	noncoding	Benign
15	100261288	C	T	C100261288T	ADAMTS17	NM_139057.4(ADAMTS17):c.1031+191G>A	noncoding	Benign
15	100261398	T	C	T100261398C	ADAMTS17	NM_139057.4(ADAMTS17):c.1031+81A>G	noncoding	Benign
15	100261760	G	T	G100261760T	ADAMTS17	NM_139057.4(ADAMTS17):c.874-124C>A	noncoding	Benign
15	100261829	C	T	C100261829T	ADAMTS17	NM_139057.4(ADAMTS17):c.874-193G>A	noncoding	Benign
15	100261834	A	G	A100261834G	ADAMTS17	NM_139057.4(ADAMTS17):c.874-198T>C	noncoding	Benign
15	100261835	G	A	G100261835A	ADAMTS17	NM_139057.4(ADAMTS17):c.874-199C>T	noncoding	Benign
15	100261942	C	G	C100261942G	ADAMTS17	NM_139057.4(ADAMTS17):c.874-306G>C	noncoding	Benign
15	100262190	G	T	G100262190T	ADAMTS17	NM_139057.4(ADAMTS17):c.873+162C>A	noncoding	Benign
15	100262222	G	A	G100262222A	ADAMTS17	NM_139057.4(ADAMTS17):c.873+130C>T	noncoding	Benign
15	100262290	G	A	G100262290A	ADAMTS17	NM_139057.4(ADAMTS17):c.873+62C>T	noncoding	Benign
15	100262294	A	G	A100262294G	ADAMTS17	NM_139057.4(ADAMTS17):c.873+58T>C	noncoding	Benign
15	100262561	C	T	C100262561T	ADAMTS17	NM_139057.4(ADAMTS17):c.790-126G>A	noncoding	Benign
15	100280946	T	C	T100280946C	ADAMTS17	NM_139057.4(ADAMTS17):c.789+283A>G	noncoding	Benign
15	100281032	G	A	G100281032A	ADAMTS17	NM_139057.4(ADAMTS17):c.789+197C>T	noncoding	Benign
15	100281442	T	C	T100281442C	ADAMTS17	NM_139057.4(ADAMTS17):c.617-41A>G	noncoding	Benign
15	100281577	G	C	G100281577C	ADAMTS17	NM_139057.4(ADAMTS17):c.617-176C>G	noncoding	Benign
15	100281578	G	A	G100281578A	ADAMTS17	NM_139057.4(ADAMTS17):c.617-177C>T	noncoding	Benign
15	100281601	G	C	G100281601C	ADAMTS17	NM_139057.4(ADAMTS17):c.617-200C>G	noncoding	Benign
15	100281673	G	A	G100281673A	ADAMTS17	NM_139057.4(ADAMTS17):c.617-272C>T	noncoding	Benign
15	100330688	C	T	C100330688T	ADAMTS17	NM_139057.4(ADAMTS17):c.616+201G>A	noncoding	Benign
15	100330878	C	A	C100330878A	ADAMTS17	NM_139057.4(ADAMTS17):c.616+11G>T	noncoding	Benign
15	100331124	G	A	G100331124A	ADAMTS17	NM_139057.4(ADAMTS17):c.451-70C>T	noncoding	Benign
15	100331325	C	T	C100331325T	ADAMTS17	NM_139057.4(ADAMTS17):c.451-271G>A	noncoding	Benign
15	100331374	C	T	C100331374T	ADAMTS17	NM_139057.4(ADAMTS17):c.451-320G>A	noncoding	Benign
15	100340763	A	G	A100340763G	ADAMTS17	NM_139057.4(ADAMTS17):c.450+276T>C	noncoding	Benign
15	100341009	G	T	G100341009T	ADAMTS17	NM_139057.4(ADAMTS17):c.450+30C>A	noncoding	Benign
15	100341176	G	A	G100341176A	ADAMTS17	NM_139057.4(ADAMTS17):c.313C>T:p.Arg105Ter	coding	Pathogenic
15	100341438	C	T	C100341438T	ADAMTS17	NM_139057.4(ADAMTS17):c.80-29G>A	noncoding	Benign
15	100341514	C	G	C100341514G	ADAMTS17	NM_139057.4(ADAMTS17):c.80-105G>C	noncoding	Benign
15	100341721	G	T	G100341721T	ADAMTS17	NM_139057.4(ADAMTS17):c.79+100C>A	noncoding	Benign
15	100341790	G	C	G100341790C	ADAMTS17	NM_139057.4(ADAMTS17):c.79+31C>G	noncoding	Benign
15	100342065	G	A	G100342065A	ADAMTS17	Single_allele	noncoding	Benign
15	100402638	G	T	G100402638T	CERS3	NM_001378789.1(CERS3):c.*75C>A	noncoding	Benign
15	100402757	T	C	T100402757C	CERS3	NM_001378789.1(CERS3):c.1108A>G:p.Arg370Gly	coding	Benign
15	100402840	T	C	T100402840C	CERS3	NM_001378789.1(CERS3):c.1025A>G:p.Asp342Gly	coding	Benign
15	100455661	A	T	A100455661T	CERS3	NM_001378789.1(CERS3):c.999+232T>A	noncoding	Benign
15	100455720	A	G	A100455720G	CERS3	NM_001378789.1(CERS3):c.999+173T>C	noncoding	Benign
15	100455833	C	T	C100455833T	CERS3	NM_001378789.1(CERS3):c.999+60G>A	noncoding	Benign
15	100456011	T	C	T100456011C	CERS3	NM_001378789.1(CERS3):c.881A>G:p.His294Arg	coding	Benign
15	100456190	G	A	G100456190A	CERS3	NM_001378789.1(CERS3):c.846-144C>T	noncoding	Benign
15	100469044	C	T	C100469044T	CERS3	NM_001378789.1(CERS3):c.845+334G>A	noncoding	Benign
15	100469113	C	T	C100469113T	CERS3	NM_001378789.1(CERS3):c.845+265G>A	noncoding	Benign
15	100469176	G	A	G100469176A	CERS3	NM_001378789.1(CERS3):c.845+202C>T	noncoding	Benign
15	100469269	A	T	A100469269T	CERS3	NM_001378789.1(CERS3):c.845+109T>A	noncoding	Benign
15	100469325	G	A	G100469325A	CERS3	NM_001378789.1(CERS3):c.845+53C>T	noncoding	Benign
15	100469367	G	C	G100469367C	CERS3	NM_001378789.1(CERS3):c.845+11C>G	noncoding	Benign
15	100472721	G	T	G100472721T	CERS3	NM_001378789.1(CERS3):c.738+203C>A	noncoding	Benign
15	100472918	G	A	G100472918A	CERS3	NM_001378789.1(CERS3):c.738+6C>T	noncoding	Benign
15	100475886	A	G	A100475886G	CERS3	NM_001378789.1(CERS3):c.609+200T>C	noncoding	Benign
15	100479324	C	T	C100479324T	CERS3	NM_001378789.1(CERS3):c.516+104G>A	noncoding	Benign
15	100479588	C	A	C100479588A	CERS3	NM_001378789.1(CERS3):c.466-110G>T	noncoding	Benign
15	100479614	G	T	G100479614T	CERS3	NM_001378789.1(CERS3):c.466-136C>A	noncoding	Benign
15	100479834	C	T	C100479834T	CERS3	NM_001378789.1(CERS3):c.465+155G>A	noncoding	Benign
15	100479860	G	C	G100479860C	CERS3	NM_001378789.1(CERS3):c.465+129C>G	noncoding	Benign
15	100479924	T	A	T100479924A	CERS3	NM_001378789.1(CERS3):c.465+65A>T	noncoding	Benign
15	100484245	T	C	T100484245C	CERS3	NM_001378789.1(CERS3):c.407+305A>G	noncoding	Benign
15	100484476	G	A	G100484476A	CERS3	NM_001378789.1(CERS3):c.407+74C>T	noncoding	Benign
15	100490534	G	A	G100490534A	CERS3	NM_001378789.1(CERS3):c.288+283C>T	noncoding	Benign
15	100491012	C	T	C100491012T	CERS3	NM_001378789.1(CERS3):c.174-81G>A	noncoding	Benign
15	100491237	G	A	G100491237A	CERS3	NM_001378789.1(CERS3):c.174-306C>T	noncoding	Benign
15	100501541	C	T	C100501541T	CERS3	NM_001378789.1(CERS3):c.173+136G>A	noncoding	Benign
15	100501691	T	C	T100501691C	CERS3	NM_001378789.1(CERS3):c.159A>G:p.Arg53=	coding	Benign
15	100501716	T	C	T100501716C	CERS3	NM_001378789.1(CERS3):c.134A>G:p.Tyr45Cys	coding	Benign
15	100501838	C	T	C100501838T	CERS3	NM_001378789.1(CERS3):c.12G>A:p.Thr4=	coding	Benign
15	100568921	T	C	T100568921C	LINS1	NM_001040616.3(LINS1):c.*317A>G	noncoding	Benign
15	100569017	G	T	G100569017T	LINS1	NM_001040616.3(LINS1):c.*221C>A	noncoding	Benign
15	100569022	A	G	A100569022G	LINS1	NM_001040616.3(LINS1):c.*216T>C	noncoding	Benign
15	100569038	T	C	T100569038C	LINS1	NM_001040616.3(LINS1):c.*200A>G	noncoding	Benign
15	100569049	A	G	A100569049G	LINS1	NM_001040616.3(LINS1):c.*189T>C	noncoding	Benign
15	100569071	T	C	T100569071C	LINS1	NM_001040616.3(LINS1):c.*167A>G	noncoding	Benign
15	100569153	A	G	A100569153G	LINS1	NM_001040616.3(LINS1):c.*85T>C	noncoding	Benign
15	100569187	C	T	C100569187T	LINS1	NM_001040616.3(LINS1):c.*51G>A	noncoding	Benign
15	100570151	T	C	T100570151C	LINS1	NM_001040616.3(LINS1):c.1395-34A>G	noncoding	Benign
15	100570360	C	T	C100570360T	LINS1	NM_001040616.3(LINS1):c.1395-243G>A	noncoding	Benign
15	100570438	C	T	C100570438T	LINS1	NM_001040616.3(LINS1):c.1395-321G>A	noncoding	Benign
15	100571727	A	G	A100571727G	LINS1	NM_001040616.3(LINS1):c.1394+167T>C	noncoding	Benign
15	100571893	C	A	C100571893A	LINS1	NM_001040616.3(LINS1):c.1394+1G>T	noncoding	Pathogenic
15	100572137	T	C	T100572137C	LINS1	NM_001040616.3(LINS1):c.1223-72A>G	noncoding	Benign
15	100573543	C	T	C100573543T	LINS1	NM_001040616.3(LINS1):c.1222+108G>A	noncoding	Benign
15	100574435	T	C	T100574435C	LINS1	NM_001040616.3(LINS1):c.632-194A>G	noncoding	Benign
15	100574954	T	C	T100574954C	LINS1	NM_001040616.3(LINS1):c.631+33A>G	noncoding	Benign
15	100575243	C	A	C100575243A	LINS1	NM_001040616.3(LINS1):c.490-115G>T	noncoding	Benign
15	100879560	T	A	T100879560A	ALDH1A3	Single_allele	noncoding	Benign
15	100879582	G	A	G100879582A	ALDH1A3	Single_allele	noncoding	Benign
15	100879640	G	A	G100879640A	ALDH1A3	Single_allele	noncoding	Benign
15	100885414	G	T	G100885414T	ALDH1A3	NM_000693.4(ALDH1A3):c.204+43G>T	noncoding	Benign
15	100887727	T	C	T100887727C	ALDH1A3	NM_000693.4(ALDH1A3):c.345+15T>C	noncoding	Benign
15	100887793	A	C	A100887793C	ALDH1A3	NM_000693.4(ALDH1A3):c.345+81A>C	noncoding	Benign
15	100892476	T	C	T100892476C	ALDH1A3	NM_000693.4(ALDH1A3):c.346-34T>C	noncoding	Benign
15	100892708	C	G	C100892708G	ALDH1A3	NM_000693.4(ALDH1A3):c.475+69C>G	noncoding	Benign
15	100896128	A	G	A100896128G	ALDH1A3	NM_000693.4(ALDH1A3):c.780+82A>G	noncoding	Benign
15	100897866	T	C	T100897866C	ALDH1A3	NM_000693.4(ALDH1A3):c.781-217T>C	noncoding	Benign
15	100900783	A	C	A100900783C	ALDH1A3	NM_000693.4(ALDH1A3):c.1068+24A>C	noncoding	Benign
15	100900850	T	C	T100900850C	ALDH1A3	NM_000693.4(ALDH1A3):c.1068+91T>C	noncoding	Benign
15	100900978	C	T	C100900978T	ALDH1A3	NM_000693.4(ALDH1A3):c.1068+219C>T	noncoding	Benign
15	100905994	A	C	A100905994C	ALDH1A3	NM_000693.4(ALDH1A3):c.1233+307A>C	noncoding	Benign
15	100907383	A	G	A100907383G	ALDH1A3	NM_000693.4(ALDH1A3):c.1391+105A>G	noncoding	Benign
15	100907552	T	G	T100907552G	ALDH1A3	NM_000693.4(ALDH1A3):c.1391+274T>G	noncoding	Benign
15	100908578	G	A	G100908578A	ALDH1A3	NM_000693.4(ALDH1A3):c.1466+96G>A	noncoding	Benign
15	100914804	G	C	G100914804C	ALDH1A3	NM_000693.4(ALDH1A3):c.*31G>C	noncoding	Benign
15	100914947	G	A	G100914947A	ALDH1A3	NM_000693.4(ALDH1A3):c.*174G>A	noncoding	Benign
15	100914963	A	G	A100914963G	ALDH1A3	NM_000693.4(ALDH1A3):c.*190A>G	noncoding	Benign
15	100914981	C	T	C100914981T	ALDH1A3	NM_000693.4(ALDH1A3):c.*208C>T	noncoding	Benign
15	100924710	T	C	T100924710C	LRRK1	NM_024652.6(LRRK1):c.78T>C:p.Arg26=	coding	Benign
15	100973905	C	T	C100973905T	LRRK1	NM_024652.6(LRRK1):c.199C>T:p.Arg67Cys	coding	Benign
15	100973908	G	A	G100973908A	LRRK1	NM_024652.6(LRRK1):c.202G>A:p.Gly68Ser	coding	Benign
15	100973952	G	C	G100973952C	LRRK1	NM_024652.6(LRRK1):c.246G>C:p.Ala82=	coding	Benign
15	100973967	G	A	G100973967A	LRRK1	NM_024652.6(LRRK1):c.261G>A:p.Lys87=	coding	Pathogenic
15	100973980	C	T	C100973980T	LRRK1	NM_024652.6(LRRK1):c.261+13C>T	noncoding	Benign
15	100983650	G	A	G100983650A	LRRK1	NM_024652.6(LRRK1):c.384G>A:p.Ala128=	coding	Benign
15	100988698	G	T	G100988698T	LRRK1	NM_024652.6(LRRK1):c.498G>T:p.Leu166=	coding	Benign
15	100988807	A	G	A100988807G	LRRK1	NM_024652.6(LRRK1):c.607A>G:p.Lys203Glu	coding	Benign
15	100989389	G	A	G100989389A	LRRK1	NM_024652.6(LRRK1):c.753G>A:p.Pro251=	coding	Benign
15	101008833	C	T	C101008833T	LRRK1	NM_024652.6(LRRK1):c.763-4C>T	noncoding	Benign
15	101010706	G	T	G101010706T	LRRK1	NM_024652.6(LRRK1):c.1150G>T:p.Glu384Ter	coding	Pathogenic
15	101010852	A	G	A101010852G	LRRK1	NM_024652.6(LRRK1):c.1281+15A>G	noncoding	Benign
15	101012157	A	G	A101012157G	LRRK1	NM_024652.6(LRRK1):c.1419+12A>G	noncoding	Benign
15	101021111	C	T	C101021111T	LRRK1	NM_024652.6(LRRK1):c.1668C>T:p.Asn556=	coding	Benign
15	101021141	G	A	G101021141A	LRRK1	NM_024652.6(LRRK1):c.1698G>A:p.Ser566=	coding	Benign
15	101022426	A	G	A101022426G	LRRK1	NM_024652.6(LRRK1):c.1896A>G:p.Lys632=	coding	Benign
15	101022432	A	G	A101022432G	LRRK1	NM_024652.6(LRRK1):c.1902A>G:p.Glu634=	coding	Benign
15	101022588	G	A	G101022588A	LRRK1	NM_024652.6(LRRK1):c.2058G>A:p.Ser686=	coding	Benign
15	101024823	C	T	C101024823T	LRRK1	NM_024652.6(LRRK1):c.2088C>T:p.Asn696=	coding	Benign
15	101024844	G	A	G101024844A	LRRK1	NM_024652.6(LRRK1):c.2109G>A:p.Pro703=	coding	Benign
15	101025985	G	A	G101025985A	LRRK1	NM_024652.6(LRRK1):c.2253G>A:p.Val751=	coding	Benign
15	101026051	G	A	G101026051A	LRRK1	NM_024652.6(LRRK1):c.2319G>A:p.Thr773=	coding	Benign
15	101026154	G	A	G101026154A	LRRK1	NM_024652.6(LRRK1):c.2405+17G>A	noncoding	Benign
15	101027318	C	T	C101027318T	LRRK1	NM_024652.6(LRRK1):c.2463C>T:p.His821=	coding	Benign
15	101027342	G	C	G101027342C	LRRK1	NM_024652.6(LRRK1):c.2487G>C:p.Val829=	coding	Benign
15	101027697	C	T	C101027697T	LRRK1	NM_024652.6(LRRK1):c.2586C>T:p.Ser862=	coding	Benign
15	101027707	G	A	G101027707A	LRRK1	NM_024652.6(LRRK1):c.2596G>A:p.Asp866Asn	coding	Benign
15	101027766	C	T	C101027766T	LRRK1	NM_024652.6(LRRK1):c.2655C>T:p.Asn885=	coding	Benign
15	101029169	C	T	C101029169T	LRRK1	NM_024652.6(LRRK1):c.2900C>T:p.Thr967Met	coding	Benign
15	101029212	C	T	C101029212T	LRRK1	NM_024652.6(LRRK1):c.2943C>T:p.Ala981=	coding	Benign
15	101046023	C	T	C101046023T	LRRK1	NM_024652.6(LRRK1):c.3006C>T:p.Asp1002=	coding	Benign
15	101046089	C	G	C101046089G	LRRK1	NM_024652.6(LRRK1):c.3072C>G:p.Pro1024=	coding	Benign
15	101049767	T	A	T101049767A	LRRK1	NM_024652.6(LRRK1):c.3423T>A:p.Ile1141=	coding	Benign
15	101051718	A	G	A101051718G	LRRK1	NM_024652.6(LRRK1):c.3447A>G:p.Thr1149=	coding	Benign
15	101051724	A	C	A101051724C	LRRK1	NM_024652.6(LRRK1):c.3453A>C:p.Thr1151=	coding	Benign
15	101051799	G	A	G101051799A	LRRK1	NM_024652.6(LRRK1):c.3528G>A:p.Thr1176=	coding	Benign
15	101051835	C	T	C101051835T	LRRK1	NM_024652.6(LRRK1):c.3564C>T:p.Phe1188=	coding	Benign
15	101052907	G	A	G101052907A	LRRK1	NM_024652.6(LRRK1):c.3690-15G>A	noncoding	Benign
15	101052908	G	C	G101052908C	LRRK1	NM_024652.6(LRRK1):c.3690-14G>C	noncoding	Benign
15	101053215	C	T	C101053215T	LRRK1	NM_024652.6(LRRK1):c.3857-8C>T	noncoding	Benign
15	101053299	G	A	G101053299A	LRRK1	NM_024652.6(LRRK1):c.3933G>A:p.Leu1311=	coding	Benign
15	101053436	G	A	G101053436A	LRRK1	NM_024652.6(LRRK1):c.4054+16G>A	noncoding	Benign
15	101055052	G	A	G101055052A	LRRK1	NM_024652.6(LRRK1):c.4161G>A:p.Leu1387=	coding	Benign
15	101055121	C	T	C101055121T	LRRK1	NM_024652.6(LRRK1):c.4230C>T:p.Tyr1410=	coding	Benign
15	101055242	T	G	T101055242G	LRRK1	NM_024652.6(LRRK1):c.4332+19T>G	noncoding	Benign
15	101057003	C	T	C101057003T	LRRK1	NM_024652.6(LRRK1):c.4480C>T:p.Arg1494Ter	coding	Pathogenic
15	101057061	A	G	A101057061G	LRRK1	NM_024652.6(LRRK1):c.4527+11A>G	noncoding	Benign
15	101057995	G	A	G101057995A	LRRK1	NM_024652.6(LRRK1):c.4533G>A:p.Pro1511=	coding	Benign
15	101058109	C	T	C101058109T	LRRK1	NM_024652.6(LRRK1):c.4647C>T:p.Thr1549=	coding	Benign
15	101058154	G	A	G101058154A	LRRK1	NM_024652.6(LRRK1):c.4679+13G>A	noncoding	Benign
15	101065540	C	T	C101065540T	LRRK1	NM_024652.6(LRRK1):c.5103C>T:p.Ser1701=	coding	Benign
15	101065879	G	A	G101065879A	LRRK1	NM_024652.6(LRRK1):c.5442G>A:p.Ala1814=	coding	Benign
15	101065915	G	A	G101065915A	LRRK1	NM_024652.6(LRRK1):c.5478G>A:p.Thr1826=	coding	Benign
15	101066010	G	A	G101066010A	LRRK1	NM_024652.6(LRRK1):c.5573G>A:p.Ser1858Asn	coding	Benign
15	101066056	C	T	C101066056T	LRRK1	NM_024652.6(LRRK1):c.5619C>T:p.Thr1873=	coding	Benign
15	101066089	C	T	C101066089T	LRRK1	NM_024652.6(LRRK1):c.5652C>T:p.Pro1884=	coding	Benign
15	101066643	C	T	C101066643T	LRRK1	NM_024652.6(LRRK1):c.5772C>T:p.Arg1924=	coding	Benign
15	101066684	G	A	G101066684A	LRRK1	NM_024652.6(LRRK1):c.5813G>A:p.Gly1938Asp	coding	Benign
15	101066685	C	A	C101066685A	LRRK1	NM_024652.6(LRRK1):c.5814C>A:p.Gly1938=	coding	Benign
15	101066692	C	T	C101066692T	LRRK1	NM_024652.6(LRRK1):c.5821C>T:p.Arg1941Trp	coding	Benign
15	101066754	G	A	G101066754A	LRRK1	NM_024652.6(LRRK1):c.5870+13G>A	noncoding	Benign
15	101068821	G	T	G101068821T	LRRK1	NM_024652.6(LRRK1):c.6021G>T:p.Leu2007=	coding	Benign
15	101177683	C	T	C101177683T	CHSY1	NM_014918.5(CHSY1):c.2114G>A:p.Arg705Gln	coding	Benign
15	101178034	C	G	C101178034G	CHSY1	NM_014918.5(CHSY1):c.1763G>C:p.Arg588Thr	coding	Benign
15	101178722	G	A	G101178722A	CHSY1	NM_014918.5(CHSY1):c.1075C>T:p.Pro359Ser	coding	Benign
15	101178822	G	A	G101178822A	CHSY1	NM_014918.5(CHSY1):c.975C>T:p.Ser325=	coding	Benign
15	101179175	G	C	G101179175C	CHSY1	NM_014918.5(CHSY1):c.817-195C>G	noncoding	Benign
15	101235325	G	A	G101235325A	CHSY1	NM_014918.5(CHSY1):c.573C>T:p.Ser191=	coding	Benign
15	101235700	C	T	C101235700T	CHSY1	NM_014918.5(CHSY1):c.321-123G>A	noncoding	Benign
15	101235715	C	T	C101235715T	CHSY1	NM_014918.5(CHSY1):c.321-138G>A	noncoding	Benign
15	101250933	G	T	G101250933T	CHSY1	NM_014918.5(CHSY1):c.320+204C>A	noncoding	Benign
15	101251007	C	A	C101251007A	CHSY1	NM_014918.5(CHSY1):c.320+130G>T	noncoding	Benign
15	101251057	C	A	C101251057A	CHSY1	NM_014918.5(CHSY1):c.320+80G>T	noncoding	Benign
15	101251131	G	A	G101251131A	CHSY1	NM_014918.5(CHSY1):c.320+6C>T	noncoding	Benign
15	101251526	G	A	G101251526A	CHSY1	NM_014918.5(CHSY1):c.-70C>T	noncoding	Benign
15	101251653	G	A	G101251653A	CHSY1	NM_014918.5(CHSY1):c.-197C>T	noncoding	Benign
15	101251689	G	A	G101251689A	CHSY1	NM_014918.5(CHSY1):c.-233C>T	noncoding	Benign
16	51636	G	A	G51636A	POLR3K	NM_016310.5(POLR3K):c.121C>T:p.Arg41Trp	coding	Pathogenic
16	86637	A	C	A86637C	NPRL3	NM_001077350.3(NPRL3):c.*68T>G	noncoding	Benign
16	86667	C	G	C86667G	NPRL3	NM_001077350.3(NPRL3):c.*38G>C	noncoding	Benign
16	86790	A	G	A86790G	NPRL3	NM_001077350.3(NPRL3):c.1625T>C:p.Met542Thr	coding	Benign/Likely_benign
16	86889	T	C	T86889C	NPRL3	NM_001077350.3(NPRL3):c.1545-19A>G	noncoding	Benign
16	88680	G	A	G88680A	NPRL3	NM_001077350.3(NPRL3):c.1544+18C>T	noncoding	Benign/Likely_benign
16	88726	T	A	T88726A	NPRL3	NM_001077350.3(NPRL3):c.1516A>T:p.Asn506Tyr	coding	Benign/Likely_benign
16	88762	C	A	C88762A	NPRL3	NM_001077350.3(NPRL3):c.1480G>T:p.Glu494Ter	coding	Pathogenic
16	88886	G	A	G88886A	NPRL3	NM_001077350.3(NPRL3):c.1356C>T:p.Ser452=	coding	Benign/Likely_benign
16	89069	G	A	G89069A	NPRL3	NM_001077350.3(NPRL3):c.1352-179C>T	noncoding	Benign
16	89088	T	C	T89088C	NPRL3	NM_001077350.3(NPRL3):c.1352-198A>G	noncoding	Benign
16	89439	G	C	G89439C	NPRL3	NM_001077350.3(NPRL3):c.1351+274C>G	noncoding	Benign
16	89603	C	G	C89603G	NPRL3	NM_001077350.3(NPRL3):c.1351+110G>C	noncoding	Benign
16	89636	C	T	C89636T	NPRL3	NM_001077350.3(NPRL3):c.1351+77G>A	noncoding	Benign
16	89638	A	G	A89638G	NPRL3	NM_001077350.3(NPRL3):c.1351+75T>C	noncoding	Benign
16	89694	G	A	G89694A	NPRL3	NM_001077350.3(NPRL3):c.1351+19C>T	noncoding	Benign
16	89890	G	A	G89890A	NPRL3	NM_001077350.3(NPRL3):c.1174C>T:p.Gln392Ter	coding	Pathogenic
16	89904	T	C	T89904C	NPRL3	NM_001077350.3(NPRL3):c.1162-2A>G	noncoding	Pathogenic
16	92772	G	A	G92772A	NPRL3	NM_001077350.3(NPRL3):c.1032-47C>T	noncoding	Benign
16	92827	T	C	T92827C	NPRL3	NM_001077350.3(NPRL3):c.1032-102A>G	noncoding	Benign
16	93505	C	T	C93505T	NPRL3	NM_001077350.3(NPRL3):c.925-180G>A	noncoding	Benign
16	97849	C	T	C97849T	NPRL3	NM_001077350.3(NPRL3):c.924+296G>A	noncoding	Benign
16	97867	C	G	C97867G	NPRL3	NM_001077350.3(NPRL3):c.924+278G>C	noncoding	Benign
16	97935	G	A	G97935A	NPRL3	NM_001077350.3(NPRL3):c.924+210C>T	noncoding	Benign
16	98147	G	A	G98147A	NPRL3	NM_001077350.3(NPRL3):c.922C>T:p.Gln308Ter	coding	Pathogenic
16	98171	G	A	G98171A	NPRL3	NM_001077350.3(NPRL3):c.898C>T:p.Gln300Ter	coding	Pathogenic
16	98316	C	T	C98316T	NPRL3	NM_001077350.3(NPRL3):c.768-15G>A	noncoding	Benign
16	98354	G	A	G98354A	NPRL3	NM_001077350.3(NPRL3):c.768-53C>T	noncoding	Benign
16	98513	G	A	G98513A	NPRL3	NM_001077350.3(NPRL3):c.768-212C>T	noncoding	Benign
16	98532	G	T	G98532T	NPRL3	NM_001077350.3(NPRL3):c.768-231C>A	noncoding	Benign
16	98533	C	T	C98533T	NPRL3	NM_001077350.3(NPRL3):c.768-232G>A	noncoding	Benign
16	100353	C	T	C100353T	NPRL3	NM_001077350.3(NPRL3):c.767+19G>A	noncoding	Benign
16	100394	C	A	C100394A	NPRL3	NM_001077350.3(NPRL3):c.745G>T:p.Glu249Ter	coding	Pathogenic
16	100766	G	A	G100766A	NPRL3	NM_001077350.3(NPRL3):c.630-257C>T	noncoding	Benign
16	100783	T	C	T100783C	NPRL3	NM_001077350.3(NPRL3):c.630-274A>G	noncoding	Benign
16	100788	C	T	C100788T	NPRL3	NM_001077350.3(NPRL3):c.630-279G>A	noncoding	Benign
16	100839	C	T	C100839T	NPRL3	NM_001077350.3(NPRL3):c.630-330G>A	noncoding	Benign
16	100841	G	T	G100841T	NPRL3	NM_001077350.3(NPRL3):c.630-332C>A	noncoding	Benign
16	110509	C	G	C110509G	NPRL3	NM_001077350.3(NPRL3):c.629+16G>C	noncoding	Benign
16	112709	G	A	G112709A	NPRL3	NM_001077350.3(NPRL3):c.460C>T:p.Gln154Ter	coding	Pathogenic
16	112788	G	C	G112788C	NPRL3	NM_001077350.3(NPRL3):c.394-13C>G	noncoding	Benign/Likely_benign
16	112999	G	A	G112999A	NPRL3	NM_001077350.3(NPRL3):c.394-224C>T	noncoding	Benign
16	117051	A	G	A117051G	NPRL3	NM_001077350.3(NPRL3):c.393+250T>C	noncoding	Benign
16	117166	C	T	C117166T	NPRL3	NM_001077350.3(NPRL3):c.393+135G>A	noncoding	Benign
16	117259	T	C	T117259C	NPRL3	NM_001077350.3(NPRL3):c.393+42A>G	noncoding	Benign
16	117409	C	T	C117409T	NPRL3	NM_001077350.3(NPRL3):c.319-34G>A	noncoding	Benign
16	119128	G	A	G119128A	NPRL3	NM_001077350.3(NPRL3):c.316C>T:p.Gln106Ter	coding	Pathogenic
16	119143	G	A	G119143A	NPRL3	NM_001077350.3(NPRL3):c.301C>T:p.Gln101Ter	coding	Pathogenic/Likely_pathogenic
16	119170	G	A	G119170A	NPRL3	NM_001077350.3(NPRL3):c.274C>T:p.Arg92Ter	coding	Pathogenic/Likely_pathogenic
16	119256	C	T	C119256T	NPRL3	NM_001077350.3(NPRL3):c.189-1G>A	coding	Pathogenic
16	119270	G	C	G119270C	NPRL3	NM_001077350.3(NPRL3):c.189-15C>G	noncoding	Benign
16	130496	C	A	C130496A	NPRL3	NM_001077350.3(NPRL3):c.188+26G>T	noncoding	Benign
16	130720	A	G	A130720G	NPRL3	NM_001077350.3(NPRL3):c.119-129T>C	noncoding	Benign
16	138190	G	T	G138190T	NPRL3	NM_001077350.3(NPRL3):c.78C>A:p.Tyr26Ter	coding	Pathogenic
16	138336	T	A	T138336A	NPRL3	NM_001077350.3(NPRL3):c.-67-2A>T	noncoding	Benign
16	172870	G	C	G172870C	HBA2	NM_000517.6(HBA2):c.-43G>C	noncoding	Benign
16	172957	G	A	G172957A	HBA2;LOC106804612	NM_000517.6(HBA2):c.45G>A:p.Trp15Ter	coding	Pathogenic
16	173274	C	T	C173274T	HBA2	NM_000517.6(HBA2):c.245C>T:p.Ser82Phe	coding	Benign
16	173312	G	A	G173312A	HBA2	NM_000517.6(HBA2):c.283G>A:p.Asp95Asn	coding	Pathogenic
16	173485	G	A	G173485A	HBA2	NM_000517.6(HBA2):c.314G>A:p.Cys105Tyr	coding	Pathogenic/Likely_pathogenic
16	176440	C	T	C176440T	HBA1	Single_allele	noncoding	Benign
16	176928	G	A	G176928A	HBA1	NM_000558.5(HBA1):c.96-1G>A	noncoding	Pathogenic/Likely_pathogenic
16	176931	T	A	T176931A	HBA1;LOC106804613	NM_000558.5(HBA1):c.98T>A:p.Met33Lys	coding	Pathogenic
16	176996	C	G	C176996G	HBA1	NM_000558.5(HBA1):c.163C>G:p.Gln55Glu	coding	Benign/Likely_benign
16	177011	G	C	G177011C	HBA1	NM_000558.5(HBA1):c.178G>C:p.Gly60Arg	coding	Pathogenic
16	177134	G	T	G177134T	HBA1;LOC106804613	NM_000558.5(HBA1):c.300+1G>T	coding	Pathogenic
16	269548	T	C	T269548C	FAM234A	NM_183337.3(RGS11):c.1244A>G:p.Lys415Arg	coding	Benign
16	297855	C	A	C297855A	AXIN1	NM_003502.4(AXIN1):c.1651G>T:p.Glu551Ter	coding	Pathogenic
16	346693	A	T	A346693T	AXIN1	NM_003502.4(AXIN1):c.333T>A:p.Cys111Ter	coding	Pathogenic
16	346989	C	A	C346989A	AXIN1	NM_003502.4(AXIN1):c.37G>T:p.Gly13Ter	coding	Pathogenic
16	399554	G	C	G399554C	NME4	NM_005009.3(NME4):c.328-73G>C	noncoding	Benign
16	551394	C	T	C551394T	CAPN15	NM_005632.3(CAPN15):c.2159C>T:p.Ser720Phe	coding	Pathogenic
16	552032	G	A	G552032A	CAPN15	NM_005632.3(CAPN15):c.2346-19G>A	noncoding	Benign
16	552046	T	C	T552046C	CAPN15	NM_005632.3(CAPN15):c.2346-5T>C	noncoding	Benign
16	552103	C	T	C552103T	CAPN15	NM_005632.3(CAPN15):c.2398C>T:p.Arg800Trp	coding	Pathogenic
16	552863	G	A	G552863A	CAPN15	NM_005632.3(CAPN15):c.2905G>A:p.Gly969Ser	coding	Pathogenic
16	553041	G	A	G553041A	CAPN15	NM_005632.3(CAPN15):c.3083G>A:p.Arg1028Lys	coding	Pathogenic
16	574114	A	G	A574114G	PIGQ	NM_004204.5(PIGQ):c.40A>G:p.Thr14Ala	coding	Benign
16	574285	C	T	C574285T	PIGQ	NM_004204.5(PIGQ):c.211C>T:p.Gln71Ter	coding	Pathogenic
16	574713	C	T	C574713T	PIGQ	NM_004204.5(PIGQ):c.639C>T:p.Cys213=	coding	Benign
16	574762	C	T	C574762T	PIGQ	NM_004204.5(PIGQ):c.688C>T:p.Arg230Ter	coding	Pathogenic
16	575670	C	T	C575670T	PIGQ	NM_004204.5(PIGQ):c.690-169C>T	noncoding	Benign
16	576255	G	A	G576255A	PIGQ	NM_004204.5(PIGQ):c.942+1G>A	coding	Pathogenic/Likely_pathogenic
16	576255	G	C	G576255C	PIGQ	NM_004204.5(PIGQ):c.942+1G>C	coding	Pathogenic
16	576346	A	C	A576346C	PIGQ	NM_004204.5(PIGQ):c.942+92A>C	noncoding	Benign
16	578130	A	G	A578130G	PIGQ	NM_004204.5(PIGQ):c.943-249A>G	noncoding	Benign
16	578460	C	T	C578460T	PIGQ	NM_004204.5(PIGQ):c.1024C>T:p.Gln342Ter	coding	Pathogenic
16	578828	G	A	G578828A	PIGQ	NM_004204.5(PIGQ):c.1113G>A:p.Trp371Ter	coding	Pathogenic
16	579006	C	T	C579006T	PIGQ	NM_004204.5(PIGQ):c.1224-63C>T	noncoding	Benign
16	579445	C	T	C579445T	PIGQ	NM_004204.5(PIGQ):c.1335+265C>T	noncoding	Benign
16	579447	A	G	A579447G	PIGQ	NM_004204.5(PIGQ):c.1335+267A>G	noncoding	Benign
16	580025	C	G	C580025G	PIGQ	NM_004204.5(PIGQ):c.1336-158C>G	noncoding	Benign
16	580089	C	T	C580089T	PIGQ	NM_004204.5(PIGQ):c.1336-94C>T	noncoding	Benign
16	580172	C	G	C580172G	PIGQ	NM_004204.5(PIGQ):c.1336-11C>G	noncoding	Benign
16	580367	C	T	C580367T	PIGQ	NM_004204.5(PIGQ):c.1416+104C>T	noncoding	Benign
16	580405	T	G	T580405G	PIGQ	NM_004204.5(PIGQ):c.1416+142T>G	noncoding	Benign
16	580665	G	A	G580665A	PIGQ	NM_004204.5(PIGQ):c.1417-193G>A	noncoding	Benign
16	580710	A	G	A580710G	PIGQ	NM_004204.5(PIGQ):c.1417-148A>G	noncoding	Benign
16	580902	C	G	C580902G	PIGQ	NM_004204.5(PIGQ):c.1461C>G:p.Leu487=	coding	Benign
16	580983	C	T	C580983T	PIGQ	NM_004204.5(PIGQ):c.1531+11C>T	noncoding	Benign
16	582011	C	T	C582011T	PIGQ	NM_004204.5(PIGQ):c.1532-237C>T	noncoding	Benign
16	582051	T	C	T582051C	PIGQ	NM_004204.5(PIGQ):c.1532-197T>C	noncoding	Benign
16	582073	C	T	C582073T	PIGQ	NM_004204.5(PIGQ):c.1532-175C>T	noncoding	Benign
16	582115	G	A	G582115A	PIGQ	NM_004204.5(PIGQ):c.1532-133G>A	noncoding	Benign
16	582138	C	T	C582138T	PIGQ	NM_004204.5(PIGQ):c.1532-110C>T	noncoding	Benign
16	582180	G	C	G582180C	PIGQ	NM_004204.5(PIGQ):c.1532-68G>C	noncoding	Benign
16	582198	T	A	T582198A	PIGQ	NM_004204.5(PIGQ):c.1532-50T>A	noncoding	Benign
16	582224	G	A	G582224A	PIGQ	NM_004204.5(PIGQ):c.1532-24G>A	noncoding	Benign
16	582225	T	C	T582225C	PIGQ	NM_004204.5(PIGQ):c.1532-23T>C	noncoding	Benign
16	582233	T	C	T582233C	PIGQ	NM_004204.5(PIGQ):c.1532-15T>C	noncoding	Benign
16	582283	G	A	G582283A	PIGQ	NM_004204.5(PIGQ):c.1567G>A:p.Gly523Ser	coding	Benign
16	582699	C	G	C582699G	PIGQ	NM_004204.5(PIGQ):c.1594-184C>G	noncoding	Benign
16	582728	T	C	T582728C	PIGQ	NM_004204.5(PIGQ):c.1594-155T>C	noncoding	Benign
16	582736	T	C	T582736C	PIGQ	NM_004204.5(PIGQ):c.1594-147T>C	noncoding	Benign
16	582767	A	G	A582767G	PIGQ	NM_004204.5(PIGQ):c.1594-116A>G	noncoding	Benign
16	583125	T	C	T583125C	PIGQ	NM_004204.5(PIGQ):c.*90T>C	coding	Benign
16	583706	C	T	C583706T	PIGQ	NM_004204.5(PIGQ):c.*671C>T	noncoding	Benign
16	583764	G	A	G583764A	PIGQ	NM_004204.5(PIGQ):c.*729G>A	noncoding	Benign
16	583843	A	G	A583843G	PIGQ	NM_004204.5(PIGQ):c.*808A>G	noncoding	Benign
16	583851	T	C	T583851C	PIGQ	NM_004204.5(PIGQ):c.*816T>C	noncoding	Benign
16	583934	C	T	C583934T	PIGQ	NM_004204.5(PIGQ):c.*899C>T	noncoding	Benign
16	679825	A	G	A679825G	STUB1	Single_allele	noncoding	Benign
16	679831	C	T	C679831T	STUB1	Single_allele	noncoding	Benign
16	680074	G	A	G680074A	STUB1	Single_allele	noncoding	Benign
16	680226	G	C	G680226C	STUB1	Single_allele	noncoding	Benign
16	680622	G	A	G680622A	STUB1	NM_005861.4(STUB1):c.97G>A:p.Gly33Ser	coding	Pathogenic
16	680830	C	T	C680830T	STUB1	NM_005861.4(STUB1):c.159+146C>T	noncoding	Benign
16	680955	A	T	A680955T	STUB1	NM_005861.4(STUB1):c.160-197A>T	noncoding	Benign
16	681191	G	A	G681191A	STUB1	NM_005861.4(STUB1):c.199G>A:p.Ala67Thr	coding	Pathogenic
16	681318	G	A	G681318A	STUB1	NM_005861.4(STUB1):c.326G>A:p.Ser109Asn	coding	Benign/Likely_benign
16	681519	G	A	G681519A	STUB1	NM_005861.4(STUB1):c.440G>A:p.Trp147Ter	coding	Pathogenic
16	681725	T	G	T681725G	STUB1	NM_005861.4(STUB1):c.525-68T>G	coding	Benign
16	681771	C	T	C681771T	STUB1	NM_005861.4(STUB1):c.525-22C>T	coding	Benign
16	682168	C	T	C682168T	STUB1	NM_005861.4(STUB1):c.673C>T:p.Arg225Ter	coding	Pathogenic/Likely_pathogenic
16	682177	C	T	C682177T	STUB1	NM_005861.4(STUB1):c.682C>T:p.Pro228Ser	coding	Pathogenic
16	682583	C	T	C682583T	STUB1	NM_005861.4(STUB1):c.*94C>T	noncoding	Benign
16	722600	A	C	A722600C	CCDC78	NM_001378030.1(CCDC78):c.*78T>G	noncoding	Benign
16	722797	G	T	G722797T	CCDC78	NM_001378030.1(CCDC78):c.1302-8C>A	noncoding	Benign/Likely_benign
16	722842	T	C	T722842C	CCDC78	NM_001378030.1(CCDC78):c.1302-53A>G	noncoding	Benign
16	722848	C	T	C722848T	CCDC78	NM_001378030.1(CCDC78):c.1302-59G>A	noncoding	Benign
16	723105	C	T	C723105T	CCDC78	NM_001378030.1(CCDC78):c.1190G>A:p.Arg397His	coding	Benign/Likely_benign
16	723106	G	A	G723106A	CCDC78	NM_001378030.1(CCDC78):c.1189C>T:p.Arg397Cys	coding	Benign/Likely_benign
16	723341	G	A	G723341A	CCDC78	NM_001378030.1(CCDC78):c.1134-180C>T	noncoding	Benign
16	723367	G	T	G723367T	CCDC78	NM_001378030.1(CCDC78):c.1134-206C>A	noncoding	Benign
16	723934	G	A	G723934A	CCDC78	NM_001378030.1(CCDC78):c.1056C>T:p.His352=	coding	Benign
16	723998	C	T	C723998T	CCDC78	NM_001378030.1(CCDC78):c.1054-62G>A	noncoding	Benign
16	723999	G	T	G723999T	CCDC78	NM_001378030.1(CCDC78):c.1054-63C>A	noncoding	Benign
16	724086	C	T	C724086T	CCDC78	NM_001378030.1(CCDC78):c.1053+20G>A	noncoding	Benign
16	724094	C	T	C724094T	CCDC78	NM_001378030.1(CCDC78):c.1053+12G>A	noncoding	Benign
16	724357	C	G	C724357G	CCDC78	NM_001378030.1(CCDC78):c.918G>C:p.Leu306=	coding	Benign/Likely_benign
16	724709	C	T	C724709T	CCDC78	NM_001378030.1(CCDC78):c.737G>A:p.Arg246Gln	coding	Benign/Likely_benign
16	725161	G	A	G725161A	CCDC78	NM_001378030.1(CCDC78):c.493-16C>T	noncoding	Benign/Likely_benign
16	725236	C	T	C725236T	CCDC78	NM_001378030.1(CCDC78):c.492+1G>A	noncoding	Benign/Likely_benign
16	725237	G	A	G725237A	CCDC78	NM_001378030.1(CCDC78):c.492C>T:p.Gly164=	coding	Benign/Likely_benign
16	725464	C	A	C725464A	CCDC78	NM_001378030.1(CCDC78):c.384G>T:p.Glu128Asp	coding	Benign/Likely_benign
16	725605	G	A	G725605A	CCDC78	NM_001378030.1(CCDC78):c.268-25C>T	noncoding	Benign
16	725783	C	T	C725783T	CCDC78	NM_001378030.1(CCDC78):c.267+11G>A	noncoding	Benign
16	725952	G	A	G725952A	CCDC78	NM_001378030.1(CCDC78):c.180+14C>T	noncoding	Benign
16	726239	C	T	C726239T	CCDC78	NM_001378030.1(CCDC78):c.60+69G>A	noncoding	Benign
16	726326	G	C	G726326C	CCDC78	NM_001378030.1(CCDC78):c.42C>G:p.Pro14=	coding	Benign
16	726399	G	A	G726399A	CCDC78	NM_001378030.1(CCDC78):c.-32C>T	noncoding	Benign
16	726614	C	A	C726614A	CCDC78	NM_001378033.1(CCDC78):c.-226+175G>T	noncoding	Benign
16	768802	G	A	G768802A	MSLN	NM_005823.6(MSLN):c.*69G>A	noncoding	Benign
16	795819	A	G	A795819G	CHTF18	NM_022092.3(CHTF18):c.2310A>G:p.Ala770=	coding	Benign
16	854551	G	C	G854551C	LMF1	NM_022773.4(LMF1):c.1685C>G:p.Pro562Arg	coding	Benign
16	854871	G	A	G854871A	LMF1	NM_022773.4(LMF1):c.1530-165C>T	noncoding	Benign
16	868784	G	C	G868784C	LMF1	NM_022773.4(LMF1):c.1529+160C>G	noncoding	Benign
16	868924	C	T	C868924T	LMF1	NM_022773.4(LMF1):c.1529+20G>A	noncoding	Benign
16	869667	C	T	C869667T	LMF1	NM_022773.4(LMF1):c.1416+216G>A	noncoding	Benign
16	869870	G	A	G869870A	LMF1	NM_022773.4(LMF1):c.1416+13C>T	noncoding	Benign/Likely_benign
16	869874	G	A	G869874A	LMF1	NM_022773.4(LMF1):c.1416+9C>T	noncoding	Benign
16	870009	G	A	G870009A	LMF1	NM_022773.4(LMF1):c.1290C>T:p.Ser430=	coding	Benign/Likely_benign
16	870035	G	A	G870035A	LMF1	NM_022773.4(LMF1):c.1264C>T:p.Gln422Ter	coding	Pathogenic
16	870248	C	T	C870248T	LMF1	NM_022773.4(LMF1):c.1233-182G>A	noncoding	Benign
16	870310	C	G	C870310G	LMF1	NM_022773.4(LMF1):c.1233-244G>C	noncoding	Benign
16	870571	G	A	G870571A	LMF1	NM_022773.4(LMF1):c.1232+158C>T	noncoding	Benign
16	870675	G	C	G870675C	LMF1	NM_022773.4(LMF1):c.1232+54C>G	noncoding	Benign
16	870709	C	T	C870709T	LMF1	NM_022773.4(LMF1):c.1232+20G>A	noncoding	Benign
16	870884	T	G	T870884G	LMF1	NM_022773.4(LMF1):c.1079-2A>C	noncoding	Pathogenic
16	871144	C	A	C871144A	LMF1	NM_022773.4(LMF1):c.1078+17G>T	noncoding	Benign
16	879319	G	A	G879319A	LMF1	NM_022773.4(LMF1):c.897+251C>T	noncoding	Benign
16	879426	A	G	A879426G	LMF1	NM_022773.4(LMF1):c.897+144T>C	noncoding	Benign
16	879428	C	T	C879428T	LMF1	NM_022773.4(LMF1):c.897+142G>A	noncoding	Benign
16	879543	G	A	G879543A	LMF1	NM_022773.4(LMF1):c.897+27C>T	noncoding	Benign
16	879556	C	T	C879556T	LMF1	NM_022773.4(LMF1):c.897+14G>A	noncoding	Benign
16	879572	G	A	G879572A	LMF1	NM_022773.4(LMF1):c.895C>T:p.Gln299Ter	coding	Pathogenic/Likely_pathogenic
16	879606	C	T	C879606T	LMF1	NM_022773.4(LMF1):c.861G>A:p.Ala287=	coding	Benign
16	879711	C	T	C879711T	LMF1	NM_022773.4(LMF1):c.756G>A:p.Ala252=	coding	Benign
16	892868	G	C	G892868C	LMF1	NM_022773.4(LMF1):c.729+139C>G	noncoding	Benign
16	892989	G	C	G892989C	LMF1	NM_022773.4(LMF1):c.729+18C>G	noncoding	Benign
16	892994	A	G	A892994G	LMF1	NM_022773.4(LMF1):c.729+13T>C	noncoding	Benign
16	893107	A	G	A893107G	LMF1	NM_022773.4(LMF1):c.664-35T>C	noncoding	Benign
16	893117	G	C	G893117C	LMF1	NM_022773.4(LMF1):c.664-45C>G	noncoding	Benign
16	893130	C	G	C893130G	LMF1	NM_022773.4(LMF1):c.664-58G>C	noncoding	Benign
16	910725	G	A	G910725A	LMF1	NM_022773.4(LMF1):c.663+206C>T	noncoding	Benign
16	910912	G	A	G910912A	LMF1	NM_022773.4(LMF1):c.663+19C>T	noncoding	Benign
16	911051	C	T	C911051T	LMF1	NM_022773.4(LMF1):c.543G>A:p.Gly181=	coding	Benign
16	911054	C	T	C911054T	LMF1	NM_022773.4(LMF1):c.540G>A:p.Thr180=	coding	Benign
16	934003	G	C	G934003C	LMF1	NM_022773.4(LMF1):c.514+241C>G	coding	Benign
16	934113	C	A	C934113A	LMF1	NM_022773.4(LMF1):c.514+131G>T	coding	Benign
16	934444	G	A	G934444A	LMF1	NM_022773.4(LMF1):c.504-190C>T	coding	Benign
16	954337	G	A	G954337A	LMF1	NM_022773.4(LMF1):c.503+20C>T	noncoding	Benign
16	954385	T	C	T954385C	LMF1	NM_022773.4(LMF1):c.475A>G:p.Met159Val	coding	Benign/Likely_benign
16	954449	C	T	C954449T	LMF1	NM_022773.4(LMF1):c.411G>A:p.Ser137=	coding	Benign/Likely_benign
16	954501	G	C	G954501C	LMF1	NM_022773.4(LMF1):c.359C>G:p.Ser120Ter	coding	Pathogenic/Likely_pathogenic
16	954554	C	T	C954554T	LMF1	NM_022773.4(LMF1):c.306G>A:p.Thr102=	coding	Benign
16	954605	A	G	A954605G	LMF1	NM_022773.4(LMF1):c.255T>C:p.Leu85=	coding	Benign
16	954694	A	G	A954694G	LMF1	NM_022773.4(LMF1):c.194-28T>C	noncoding	Benign
16	954743	C	T	C954743T	LMF1	NM_022773.4(LMF1):c.194-77G>A	noncoding	Benign
16	954757	C	T	C954757T	LMF1	NM_022773.4(LMF1):c.194-91G>A	noncoding	Benign
16	954834	T	C	T954834C	LMF1	NM_022773.4(LMF1):c.194-168A>G	noncoding	Benign
16	954892	T	C	T954892C	LMF1	NM_022773.4(LMF1):c.194-226A>G	noncoding	Benign
16	954905	G	A	G954905A	LMF1	NM_022773.4(LMF1):c.194-239C>T	noncoding	Benign
16	954909	T	C	T954909C	LMF1	NM_022773.4(LMF1):c.194-243A>G	noncoding	Benign
16	954935	C	T	C954935T	LMF1	NM_022773.4(LMF1):c.194-269G>A	noncoding	Benign
16	970874	C	T	C970874T	LMF1	NM_022773.4(LMF1):c.107G>A:p.Gly36Asp	coding	Benign
16	970900	A	G	A970900G	LMF1	NM_022773.4(LMF1):c.81T>C:p.Pro27=	coding	Benign/Likely_benign
16	971001	C	A	C971001A	LMF1	NM_001352017.2(LMF1):c.-611+10144G>T	noncoding	Benign
16	971266	G	A	G971266A	LMF1	NM_001352017.2(LMF1):c.-611+9879C>T	noncoding	Benign
16	984954	T	C	T984954C	SOX8	NM_014587.5(SOX8):c.909T>C:p.Tyr303=	coding	Benign
16	1079010	C	A	C1079010A	SSTR5	NM_001172560.3(SSTR5):c.142C>A:p.Leu48Met	coding	Benign
16	1079872	C	T	C1079872T	SSTR5	NM_001172560.3(SSTR5):c.1004C>T:p.Pro335Leu	coding	Benign
16	1154116	A	G	A1154116G	CACNA1H	NM_021098.3(CACNA1H):c.299+80A>G	noncoding	Benign
16	1194631	C	T	C1194631T	CACNA1H	NM_021098.3(CACNA1H):c.300-341C>T	noncoding	Benign
16	1194877	G	A	G1194877A	CACNA1H	NM_021098.3(CACNA1H):c.300-95G>A	noncoding	Benign
16	1194887	T	A	T1194887A	CACNA1H	NM_021098.3(CACNA1H):c.300-85T>A	noncoding	Benign
16	1195123	G	A	G1195123A	CACNA1H	NM_021098.3(CACNA1H):c.411+40G>A	noncoding	Benign
16	1195293	G	A	G1195293A	CACNA1H	NM_021098.3(CACNA1H):c.412-139G>A	noncoding	Benign
16	1195361	C	T	C1195361T	CACNA1H	NM_021098.3(CACNA1H):c.412-71C>T	noncoding	Benign
16	1196034	G	A	G1196034A	CACNA1H	NM_021098.3(CACNA1H):c.643+11G>A	noncoding	Benign
16	1196211	G	A	G1196211A	CACNA1H	NM_021098.3(CACNA1H):c.643+188G>A	noncoding	Benign
16	1196255	A	C	A1196255C	CACNA1H	NM_021098.3(CACNA1H):c.643+232A>C	noncoding	Benign
16	1196270	A	G	A1196270G	CACNA1H	NM_021098.3(CACNA1H):c.643+247A>G	noncoding	Benign
16	1198314	C	G	C1198314G	CACNA1H	NM_021098.3(CACNA1H):c.644-301C>G	noncoding	Benign
16	1198371	C	T	C1198371T	CACNA1H	NM_021098.3(CACNA1H):c.644-244C>T	noncoding	Benign
16	1198374	G	C	G1198374C	CACNA1H	NM_021098.3(CACNA1H):c.644-241G>C	noncoding	Benign
16	1198527	C	T	C1198527T	CACNA1H	NM_021098.3(CACNA1H):c.644-88C>T	noncoding	Benign
16	1198652	G	T	G1198652T	CACNA1H	NM_021098.3(CACNA1H):c.681G>T:p.Leu227=	coding	Benign
16	1198890	C	T	C1198890T	CACNA1H	NM_021098.3(CACNA1H):c.803+116C>T	noncoding	Benign
16	1200248	A	G	A1200248G	CACNA1H	NM_021098.3(CACNA1H):c.804-8A>G	noncoding	Benign
16	1200526	C	T	C1200526T	CACNA1H	NM_021098.3(CACNA1H):c.1074C>T:p.Ala358=	coding	Benign
16	1200763	C	T	C1200763T	CACNA1H	NM_021098.3(CACNA1H):c.1167C>T:p.Asp389=	coding	Benign
16	1200820	C	T	C1200820T	CACNA1H	NM_021098.3(CACNA1H):c.1212+12C>T	noncoding	Benign
16	1200826	T	C	T1200826C	CACNA1H	NM_021098.3(CACNA1H):c.1212+18T>C	noncoding	Benign
16	1201480	T	G	T1201480G	CACNA1H	NM_021098.3(CACNA1H):c.1213-183T>G	noncoding	Benign
16	1201562	G	A	G1201562A	CACNA1H	NM_021098.3(CACNA1H):c.1213-101G>A	noncoding	Benign
16	1201645	C	T	C1201645T	CACNA1H	NM_021098.3(CACNA1H):c.1213-18C>T	noncoding	Benign
16	1201652	C	T	C1201652T	CACNA1H	NM_021098.3(CACNA1H):c.1213-11C>T	noncoding	Benign/Likely_benign
16	1201654	C	G	C1201654G	CACNA1H	NM_021098.3(CACNA1H):c.1213-9C>G	noncoding	Benign
16	1201719	G	A	G1201719A	CACNA1H	NM_021098.3(CACNA1H):c.1269G>A:p.Ser423=	coding	Benign
16	1201760	G	A	G1201760A	CACNA1H	NM_021098.3(CACNA1H):c.1310G>A:p.Arg437Gln	coding	Benign
16	1201839	C	T	C1201839T	CACNA1H	NM_021098.3(CACNA1H):c.1389C>T:p.Tyr463=	coding	Benign
16	1201945	G	A	G1201945A	CACNA1H	NM_021098.3(CACNA1H):c.1495G>A:p.Gly499Ser	coding	Benign
16	1202232	C	T	C1202232T	CACNA1H	NM_021098.3(CACNA1H):c.1782C>T:p.Ala594=	coding	Benign
16	1202599	C	T	C1202599T	CACNA1H	NM_021098.3(CACNA1H):c.2002+147C>T	noncoding	Benign
16	1202737	G	C	G1202737C	CACNA1H	NM_021098.3(CACNA1H):c.2002+285G>C	noncoding	Benign
16	1203731	C	T	C1203731T	CACNA1H	NM_021098.3(CACNA1H):c.2003-279C>T	noncoding	Benign
16	1203907	G	T	G1203907T	CACNA1H	NM_021098.3(CACNA1H):c.2003-103G>T	noncoding	Benign
16	1204478	C	T	C1204478T	CACNA1H	NM_021098.3(CACNA1H):c.2451+20C>T	noncoding	Benign
16	1204791	C	T	C1204791T	CACNA1H	NM_021098.3(CACNA1H):c.2452-323C>T	noncoding	Benign
16	1205030	A	G	A1205030G	CACNA1H	NM_021098.3(CACNA1H):c.2452-84A>G	noncoding	Benign
16	1205083	C	T	C1205083T	CACNA1H	NM_021098.3(CACNA1H):c.2452-31C>T	noncoding	Benign
16	1205285	C	A	C1205285A	CACNA1H	NM_021098.3(CACNA1H):c.2603+20C>A	noncoding	Benign
16	1205390	C	T	C1205390T	CACNA1H	NM_021098.3(CACNA1H):c.2603+125C>T	noncoding	Benign
16	1205545	T	C	T1205545C	CACNA1H	NM_021098.3(CACNA1H):c.2603+280T>C	noncoding	Benign
16	1205832	C	T	C1205832T	CACNA1H	NM_021098.3(CACNA1H):c.2604-272C>T	noncoding	Benign
16	1205885	A	G	A1205885G	CACNA1H	NM_021098.3(CACNA1H):c.2604-219A>G	noncoding	Benign
16	1206016	C	A	C1206016A	CACNA1H	NM_021098.3(CACNA1H):c.2604-88C>A	noncoding	Benign
16	1206085	C	T	C1206085T	CACNA1H	NM_021098.3(CACNA1H):c.2604-19C>T	noncoding	Benign
16	1206087	C	A	C1206087A	CACNA1H	NM_021098.3(CACNA1H):c.2604-17C>A	noncoding	Benign
16	1206839	T	C	T1206839C	CACNA1H	NM_021098.3(CACNA1H):c.2790-162T>C	noncoding	Benign
16	1206902	C	G	C1206902G	CACNA1H	NM_021098.3(CACNA1H):c.2790-99C>G	noncoding	Benign
16	1206981	G	A	G1206981A	CACNA1H	NM_021098.3(CACNA1H):c.2790-20G>A	noncoding	Benign
16	1207082	C	T	C1207082T	CACNA1H	NM_021098.3(CACNA1H):c.2871C>T:p.Phe957=	coding	Benign
16	1207136	C	T	C1207136T	CACNA1H	NM_021098.3(CACNA1H):c.2907+18C>T	noncoding	Benign
16	1207382	G	A	G1207382A	CACNA1H	NM_021098.3(CACNA1H):c.3015G>A:p.Val1005=	coding	Benign
16	1207448	G	A	G1207448A	CACNA1H	NM_021098.3(CACNA1H):c.3063+18G>A	noncoding	Benign
16	1207634	C	T	C1207634T	CACNA1H	NM_021098.3(CACNA1H):c.3064-136C>T	noncoding	Benign
16	1207731	G	A	G1207731A	CACNA1H	NM_021098.3(CACNA1H):c.3064-39G>A	noncoding	Benign
16	1207755	C	T	C1207755T	CACNA1H	NM_021098.3(CACNA1H):c.3064-15C>T	noncoding	Benign
16	1207873	G	A	G1207873A	CACNA1H	NM_021098.3(CACNA1H):c.3154+13G>A	noncoding	Benign
16	1207940	T	C	T1207940C	CACNA1H	NM_021098.3(CACNA1H):c.3155-73T>C	noncoding	Benign
16	1208171	C	T	C1208171T	CACNA1H	NM_021098.3(CACNA1H):c.3313C>T:p.Arg1105Cys	coding	Benign
16	1208312	G	A	G1208312A	CACNA1H	NM_021098.3(CACNA1H):c.3363+91G>A	noncoding	Benign
16	1208928	A	G	A1208928G	CACNA1H	NM_021098.3(CACNA1H):c.3364-104A>G	noncoding	Benign
16	1209018	C	A	C1209018A	CACNA1H	NM_021098.3(CACNA1H):c.3364-14C>A	noncoding	Benign
16	1209229	G	A	G1209229A	CACNA1H	NM_021098.3(CACNA1H):c.3561G>A:p.Gly1187=	coding	Benign
16	1209313	C	T	C1209313T	CACNA1H	NM_021098.3(CACNA1H):c.3645C>T:p.Arg1215=	coding	Benign
16	1209367	C	T	C1209367T	CACNA1H	NM_021098.3(CACNA1H):c.3699C>T:p.Asp1233=	coding	Benign
16	1209421	G	A	G1209421A	CACNA1H	NM_021098.3(CACNA1H):c.3744+9G>A	noncoding	Benign
16	1209429	G	A	G1209429A	CACNA1H	NM_021098.3(CACNA1H):c.3744+17G>A	noncoding	Benign
16	1209456	G	C	G1209456C	CACNA1H	NM_021098.3(CACNA1H):c.3744+44G>C	noncoding	Benign
16	1209727	G	A	G1209727A	CACNA1H	NM_021098.3(CACNA1H):c.3745-308G>A	noncoding	Benign
16	1209746	G	A	G1209746A	CACNA1H	NM_021098.3(CACNA1H):c.3745-289G>A	noncoding	Benign
16	1210017	C	T	C1210017T	CACNA1H	NM_021098.3(CACNA1H):c.3745-18C>T	noncoding	Benign
16	1210018	G	A	G1210018A	CACNA1H	NM_021098.3(CACNA1H):c.3745-17G>A	noncoding	Benign
16	1210021	G	A	G1210021A	CACNA1H	NM_021098.3(CACNA1H):c.3745-14G>A	noncoding	Benign
16	1210021	G	T	G1210021T	CACNA1H	NM_021098.3(CACNA1H):c.3745-14G>T	noncoding	Benign
16	1210146	C	T	C1210146T	CACNA1H	NM_021098.3(CACNA1H):c.3845+11C>T	noncoding	Benign
16	1210338	G	C	G1210338C	CACNA1H	NM_021098.3(CACNA1H):c.3846-32G>C	noncoding	Benign
16	1210343	A	C	A1210343C	CACNA1H	NM_021098.3(CACNA1H):c.3846-27A>C	noncoding	Benign
16	1210346	T	C	T1210346C	CACNA1H	NM_021098.3(CACNA1H):c.3846-24T>C	noncoding	Benign
16	1210350	A	C	A1210350C	CACNA1H	NM_021098.3(CACNA1H):c.3846-20A>C	noncoding	Benign
16	1210354	G	C	G1210354C	CACNA1H	NM_021098.3(CACNA1H):c.3846-16G>C	noncoding	Benign
16	1210513	C	T	C1210513T	CACNA1H	NM_021098.3(CACNA1H):c.3969+20C>T	noncoding	Benign
16	1210528	C	T	C1210528T	CACNA1H	NM_021098.3(CACNA1H):c.3969+35C>T	noncoding	Benign
16	1210659	G	A	G1210659A	CACNA1H	NM_021098.3(CACNA1H):c.4038+8G>A	noncoding	Benign
16	1210663	C	T	C1210663T	CACNA1H	NM_021098.3(CACNA1H):c.4038+12C>T	noncoding	Benign/Likely_benign
16	1210666	G	T	G1210666T	CACNA1H	NM_021098.3(CACNA1H):c.4038+15G>T	noncoding	Benign/Likely_benign
16	1210692	C	T	C1210692T	CACNA1H	NM_021098.3(CACNA1H):c.4038+41C>T	noncoding	Benign
16	1210767	G	A	G1210767A	CACNA1H	NM_021098.3(CACNA1H):c.4039-20G>A	noncoding	Benign
16	1210969	G	A	G1210969A	CACNA1H	NM_021098.3(CACNA1H):c.4221G>A:p.Leu1407=	coding	Benign
16	1211024	C	T	C1211024T	CACNA1H	NM_021098.3(CACNA1H):c.4223+53C>T	noncoding	Benign
16	1211086	C	A	C1211086A	CACNA1H	NM_021098.3(CACNA1H):c.4224-82C>A	noncoding	Benign
16	1211119	G	A	G1211119A	CACNA1H	NM_021098.3(CACNA1H):c.4224-49G>A	noncoding	Benign
16	1211157	C	T	C1211157T	CACNA1H	NM_021098.3(CACNA1H):c.4224-11C>T	noncoding	Benign
16	1211329	G	A	G1211329A	CACNA1H	NM_021098.3(CACNA1H):c.4350+35G>A	noncoding	Benign
16	1211377	G	A	G1211377A	CACNA1H	NM_021098.3(CACNA1H):c.4350+83G>A	noncoding	Benign
16	1211621	C	T	C1211621T	CACNA1H	NM_021098.3(CACNA1H):c.4476+15C>T	noncoding	Benign
16	1211636	G	T	G1211636T	CACNA1H	NM_021098.3(CACNA1H):c.4476+30G>T	noncoding	Benign
16	1211823	G	A	G1211823A	CACNA1H	NM_021098.3(CACNA1H):c.4566+18G>A	noncoding	Benign
16	1212310	C	A	C1212310A	CACNA1H	NM_021098.3(CACNA1H):c.4759+172C>A	noncoding	Benign
16	1212544	C	T	C1212544T	CACNA1H	NM_021098.3(CACNA1H):c.4777+16C>T	noncoding	Benign
16	1213469	A	G	A1213469G	CACNA1H	NM_021098.3(CACNA1H):c.4778-311A>G	noncoding	Benign
16	1213505	G	T	G1213505T	CACNA1H	NM_021098.3(CACNA1H):c.4778-275G>T	noncoding	Benign
16	1213510	G	A	G1213510A	CACNA1H	NM_021098.3(CACNA1H):c.4778-270G>A	noncoding	Benign
16	1213766	C	T	C1213766T	CACNA1H	NM_021098.3(CACNA1H):c.4778-14C>T	noncoding	Benign
16	1213805	C	G	C1213805G	CACNA1H	NM_021098.3(CACNA1H):c.4803C>G:p.Ala1601=	coding	Benign
16	1213949	G	A	G1213949A	CACNA1H	NM_021098.3(CACNA1H):c.4929+18G>A	noncoding	Benign/Likely_benign
16	1214702	C	T	C1214702T	CACNA1H	NM_021098.3(CACNA1H):c.4930-270C>T	noncoding	Benign
16	1215098	C	T	C1215098T	CACNA1H	NM_021098.3(CACNA1H):c.5039+17C>T	noncoding	Benign
16	1215393	C	T	C1215393T	CACNA1H	NM_021098.3(CACNA1H):c.5173+18C>T	noncoding	Benign
16	1215610	C	T	C1215610T	CACNA1H	NM_021098.3(CACNA1H):c.5244+17C>T	noncoding	Benign
16	1215621	G	A	G1215621A	CACNA1H	NM_021098.3(CACNA1H):c.5244+28G>A	noncoding	Benign
16	1215720	C	T	C1215720T	CACNA1H	NM_021098.3(CACNA1H):c.5244+127C>T	noncoding	Benign
16	1215854	C	T	C1215854T	CACNA1H	NM_021098.3(CACNA1H):c.5244+261C>T	noncoding	Benign
16	1215891	G	A	G1215891A	CACNA1H	NM_021098.3(CACNA1H):c.5244+298G>A	noncoding	Benign
16	1216676	G	A	G1216676A	CACNA1H	NM_021098.3(CACNA1H):c.5245-256G>A	noncoding	Benign
16	1216687	G	A	G1216687A	CACNA1H	NM_021098.3(CACNA1H):c.5245-245G>A	noncoding	Benign
16	1216729	A	G	A1216729G	CACNA1H	NM_021098.3(CACNA1H):c.5245-203A>G	noncoding	Benign
16	1216741	G	C	G1216741C	CACNA1H	NM_021098.3(CACNA1H):c.5245-191G>C	noncoding	Benign
16	1217656	C	G	C1217656G	CACNA1H	NM_021098.3(CACNA1H):c.5324-263C>G	noncoding	Benign
16	1218600	C	T	C1218600T	CACNA1H	NM_021098.3(CACNA1H):c.5836C>T:p.Arg1946Cys	coding	Benign
16	1218638	C	T	C1218638T	CACNA1H	NM_021098.3(CACNA1H):c.5874C>T:p.Ala1958=	coding	Benign
16	1218758	A	G	A1218758G	CACNA1H	NM_021098.3(CACNA1H):c.5887+107A>G	noncoding	Benign
16	1218829	G	A	G1218829A	CACNA1H	NM_021098.3(CACNA1H):c.5888-141G>A	noncoding	Benign
16	1219070	C	T	C1219070T	CACNA1H	NM_021098.3(CACNA1H):c.5988C>T:p.His1996=	coding	Benign
16	1219142	C	T	C1219142T	CACNA1H	NM_021098.3(CACNA1H):c.6048+12C>T	noncoding	Benign
16	1219143	G	A	G1219143A	CACNA1H	NM_021098.3(CACNA1H):c.6048+13G>A	noncoding	Benign
16	1219148	C	A	C1219148A	CACNA1H	NM_021098.3(CACNA1H):c.6048+18C>A	noncoding	Benign
16	1219183	A	G	A1219183G	CACNA1H	NM_021098.3(CACNA1H):c.6048+53A>G	noncoding	Benign
16	1219292	T	C	T1219292C	CACNA1H	NM_021098.3(CACNA1H):c.6048+162T>C	noncoding	Benign
16	1219312	C	T	C1219312T	CACNA1H	NM_021098.3(CACNA1H):c.6048+182C>T	noncoding	Benign
16	1219422	T	C	T1219422C	CACNA1H	NM_021098.3(CACNA1H):c.6048+292T>C	noncoding	Benign
16	1219680	G	A	G1219680A	CACNA1H	NM_021098.3(CACNA1H):c.6049-301G>A	noncoding	Benign
16	1219740	A	G	A1219740G	CACNA1H	NM_021098.3(CACNA1H):c.6049-241A>G	noncoding	Benign
16	1221095	C	T	C1221095T	CACNA1H	NM_021098.3(CACNA1H):c.*101C>T	noncoding	Benign
16	1221189	G	A	G1221189A	CACNA1H	NM_021098.3(CACNA1H):c.*195G>A	noncoding	Benign
16	1240834	C	A	C1240834A	TPSAB1	NM_003294.4(TPSAB1):c.1-105C>A	noncoding	Benign
16	1241074	T	C	T1241074C	TPSAB1	NM_003294.4(TPSAB1):c.61+75T>C	noncoding	Benign
16	1241113	C	G	C1241113G	TPSAB1	NM_003294.4(TPSAB1):c.62-40C>G	noncoding	Benign
16	1241126	C	T	C1241126T	TPSAB1	NM_003294.4(TPSAB1):c.62-27C>T	noncoding	Benign
16	1241174	G	A	G1241174A	TPSAB1	NM_003294.4(TPSAB1):c.83G>A:p.Arg28Gln	coding	Benign
16	1241244	C	T	C1241244T	TPSAB1	NM_003294.4(TPSAB1):c.153C>T:p.His51=	coding	Benign
16	1241307	A	G	A1241307G	TPSAB1	NM_003294.4(TPSAB1):c.216A>G:p.Ala72=	coding	Benign
16	1241317	G	C	G1241317C	TPSAB1	NM_003294.4(TPSAB1):c.226G>C:p.Val76Leu	coding	Benign
16	1241336	G	A	G1241336A	TPSAB1	NM_003294.4(TPSAB1):c.233+12G>A	noncoding	Benign
16	1241354	G	C	G1241354C	TPSAB1	NM_003294.4(TPSAB1):c.233+30G>C	noncoding	Benign
16	1241453	G	A	G1241453A	TPSAB1	NM_003294.4(TPSAB1):c.253G>A:p.Ala85Thr	coding	Benign
16	1241596	C	G	C1241596G	TPSAB1	NM_003294.4(TPSAB1):c.396C>G:p.Asn132Lys	coding	Benign
16	1241621	A	G	A1241621G	TPSAB1	NM_003294.4(TPSAB1):c.421A>G:p.Thr141Ala	coding	Benign
16	1241684	G	A	G1241684A	TPSAB1	NM_003294.4(TPSAB1):c.484G>A:p.Asp162Asn	coding	Benign
16	1241830	G	C	G1241830C	TPSAB1	NM_003294.4(TPSAB1):c.503G>C:p.Arg168Pro	coding	Benign
16	1241971	C	G	C1241971G	TPSAB1	NM_003294.4(TPSAB1):c.644C>G:p.Thr215Ser	coding	Benign
16	1241974	G	A	G1241974A	TPSAB1	NM_003294.4(TPSAB1):c.647G>A:p.Arg216Gln	coding	Benign
16	1241984	A	C	A1241984C	TPSAB1	NM_003294.4(TPSAB1):c.657A>C:p.Ser219=	coding	Benign
16	1241988	C	A	C1241988A	TPSAB1	NM_003294.4(TPSAB1):c.661C>A:p.Gln221Lys	coding	Benign
16	1242002	C	G	C1242002G	TPSAB1	NM_003294.4(TPSAB1):c.663+12C>G	noncoding	Benign
16	1242011	G	C	G1242011C	TPSAB1	NM_003294.4(TPSAB1):c.663+21G>C	noncoding	Benign
16	1242018	G	C	G1242018C	TPSAB1	NM_003294.4(TPSAB1):c.663+28G>C	noncoding	Benign
16	1242020	C	A	C1242020A	TPSAB1	NM_003294.4(TPSAB1):c.663+30C>A	noncoding	Benign
16	1242025	A	C	A1242025C	TPSAB1	NM_003294.4(TPSAB1):c.663+35A>C	noncoding	Benign
16	1242027	C	T	C1242027T	TPSAB1	NM_003294.4(TPSAB1):c.663+37C>T	noncoding	Benign
16	1242038	A	C	A1242038C	TPSAB1	NM_003294.4(TPSAB1):c.664-38A>C	noncoding	Benign
16	1242038	A	G	A1242038G	TPSAB1	NM_003294.4(TPSAB1):c.664-38A>G	noncoding	Benign
16	1242041	C	T	C1242041T	TPSAB1	NM_003294.4(TPSAB1):c.664-35C>T	noncoding	Benign
16	1242050	C	T	C1242050T	TPSAB1	NM_003294.4(TPSAB1):c.664-26C>T	noncoding	Benign
16	1242084	C	T	C1242084T	TPSAB1	NM_003294.4(TPSAB1):c.672C>T:p.Ser224=	coding	Benign
16	1242123	G	A	G1242123A	TPSAB1	NM_003294.4(TPSAB1):c.711G>A:p.Leu237=	coding	Benign
16	1242146	G	A	G1242146A	TPSAB1	NM_003294.4(TPSAB1):c.734G>A:p.Gly245Asp	coding	Benign
16	1242253	T	G	T1242253G	TPSAB1	NM_003294.4(TPSAB1):c.*13T>G	noncoding	Benign
16	1242256	G	T	G1242256T	TPSAB1	NM_003294.4(TPSAB1):c.*16G>T	noncoding	Benign
16	1314280	T	C	T1314280C	UBE2I	NM_003345.5(UBE2I):c.67-13T>C	noncoding	Benign
16	1314364	A	G	A1314364G	UBE2I	NM_003345.5(UBE2I):c.138A>G:p.Pro46=	coding	Benign
16	1320302	T	C	T1320302C	UBE2I	NM_003345.5(UBE2I):c.333+19T>C	noncoding	Benign
16	1351844	C	G	C1351844G	GNPTG	NM_001001410.3(TSR3):c.-40G>C	noncoding	Benign
16	1351894	G	C	G1351894C	GNPTG	NM_032520.4(GNPTG):c.-72G>C	noncoding	Benign/Likely_benign
16	1352261	C	T	C1352261T	GNPTG	NM_032520.5(GNPTG):c.133C>T:p.Gln45Ter	coding	Pathogenic
16	1352492	C	T	C1352492T	GNPTG	NM_032520.5(GNPTG):c.178+186C>T	noncoding	Benign
16	1361767	C	A	C1361767A	GNPTG	NM_032520.5(GNPTG):c.203C>A:p.Ser68Ter	coding	Pathogenic
16	1361871	G	A	G1361871A	GNPTG	NM_032520.5(GNPTG):c.234-1G>A	noncoding	Pathogenic/Likely_pathogenic
16	1361871	G	C	G1361871C	GNPTG	NM_032520.5(GNPTG):c.234-1G>C	noncoding	Pathogenic
16	1361932	G	A	G1361932A	GNPTG	NM_032520.5(GNPTG):c.294G>A:p.Trp98Ter	coding	Pathogenic
16	1361954	G	A	G1361954A	GNPTG	NM_032520.5(GNPTG):c.316G>A:p.Gly106Ser	coding	Pathogenic
16	1362004	C	T	C1362004T	GNPTG	NM_032520.5(GNPTG):c.318-34C>T	noncoding	Benign
16	1362020	G	A	G1362020A	GNPTG	NM_032520.5(GNPTG):c.318-18G>A	noncoding	Benign/Likely_benign
16	1362086	G	A	G1362086A	GNPTG	NM_032520.5(GNPTG):c.366G>A:p.Trp122Ter	coding	Pathogenic
16	1362189	C	T	C1362189T	GNPTG	NM_032520.5(GNPTG):c.412-17C>T	noncoding	Benign
16	1362532	C	T	C1362532T	GNPTG	NM_032520.5(GNPTG):c.607C>T:p.Gln203Ter	coding	Pathogenic
16	1362535	G	T	G1362535T	GNPTG	NM_032520.5(GNPTG):c.609+1G>T	coding	Pathogenic
16	1362686	C	T	C1362686T	GNPTG	NM_032520.5(GNPTG):c.685C>T:p.Gln229Ter	coding	Pathogenic
16	1362736	C	A	C1362736A	GNPTG	NM_032520.5(GNPTG):c.735C>A:p.Cys245Ter	coding	Pathogenic
16	1362740	A	T	A1362740T	GNPTG	NM_032520.5(GNPTG):c.739A>T:p.Lys247Ter	coding	Pathogenic
16	1446737	C	T	C1446737T	CLCN7	NM_001287.6(CLCN7):c.2332-20G>A	noncoding	Benign
16	1447063	G	C	G1447063C	CLCN7	NM_001287.6(CLCN7):c.2274C>G:p.Phe758Leu	coding	Pathogenic
16	1447124	A	G	A1447124G	CLCN7	NM_001287.6(CLCN7):c.2251-38T>C	noncoding	Benign
16	1447136	C	T	C1447136T	CLCN7	NM_001287.6(CLCN7):c.2251-50G>A	noncoding	Benign
16	1447372	T	C	T1447372C	CLCN7	NM_001287.6(CLCN7):c.2250+20A>G	noncoding	Benign
16	1447731	C	A	C1447731A	CLCN7	NM_001287.6(CLCN7):c.2014-17G>T	noncoding	Benign
16	1448196	A	G	A1448196G	CLCN7	NM_001287.6(CLCN7):c.2013+159T>C	noncoding	Benign
16	1448269	A	G	A1448269G	CLCN7	NM_001287.6(CLCN7):c.2013+86T>C	noncoding	Benign
16	1448500	G	A	G1448500A	CLCN7	NM_001287.6(CLCN7):c.1884-16C>T	noncoding	Benign
16	1448509	T	C	T1448509C	CLCN7	NM_001287.6(CLCN7):c.1884-25A>G	noncoding	Benign
16	1448519	A	G	A1448519G	CLCN7	NM_001287.6(CLCN7):c.1884-35T>C	noncoding	Benign
16	1448571	T	C	T1448571C	CLCN7	NM_001287.6(CLCN7):c.1884-87A>G	noncoding	Benign
16	1448951	G	A	G1448951A	CLCN7	NM_001287.6(CLCN7):c.1797+15C>T	noncoding	Benign
16	1449376	C	T	C1449376T	CLCN7	NM_001287.6(CLCN7):c.1618-49G>A	noncoding	Benign
16	1449407	G	A	G1449407A	CLCN7	NM_001287.6(CLCN7):c.1618-80C>T	noncoding	Benign
16	1449616	T	C	T1449616C	CLCN7	NM_001287.6(CLCN7):c.1618-289A>G	noncoding	Benign
16	1450538	G	A	G1450538A	CLCN7	NM_001287.6(CLCN7):c.1576C>T:p.Arg526Trp	coding	Pathogenic
16	1450552	C	G	C1450552G	CLCN7	NM_001287.6(CLCN7):c.1562G>C:p.Gly521Ala	coding	Pathogenic
16	1450553	C	T	C1450553T	CLCN7	NM_001287.6(CLCN7):c.1561G>A:p.Gly521Arg	coding	Pathogenic
16	1451957	C	T	C1451957T	CLCN7	NM_001287.6(CLCN7):c.1354-241G>A	noncoding	Benign
16	1454016	A	G	A1454016G	CLCN7	NM_001287.6(CLCN7):c.1154-122T>C	noncoding	Benign
16	1454148	T	C	T1454148C	CLCN7	NM_001287.6(CLCN7):c.1154-254A>G	noncoding	Benign
16	1454214	G	A	G1454214A	CLCN7	NM_001287.6(CLCN7):c.1153+197C>T	noncoding	Benign
16	1454229	C	T	C1454229T	CLCN7	NM_001287.6(CLCN7):c.1153+182G>A	noncoding	Benign
16	1454632	C	T	C1454632T	CLCN7	NM_001287.6(CLCN7):c.1099-167G>A	noncoding	Benign
16	1454701	C	T	C1454701T	CLCN7	NM_001287.6(CLCN7):c.1099-236G>A	noncoding	Benign
16	1454770	C	T	C1454770T	CLCN7	NM_001287.6(CLCN7):c.1099-305G>A	noncoding	Benign
16	1454880	G	A	G1454880A	CLCN7	NM_001287.6(CLCN7):c.1098+254C>T	noncoding	Benign
16	1454933	T	C	T1454933C	CLCN7	NM_001287.6(CLCN7):c.1098+201A>G	noncoding	Benign
16	1455369	G	A	G1455369A	CLCN7	NM_001287.6(CLCN7):c.982-119C>T	noncoding	Benign
16	1455428	C	G	C1455428G	CLCN7	NM_001287.6(CLCN7):c.982-178G>C	noncoding	Benign
16	1455557	G	A	G1455557A	CLCN7	NM_001287.6(CLCN7):c.981+174C>T	noncoding	Benign
16	1455587	T	C	T1455587C	CLCN7	NM_001287.6(CLCN7):c.981+144A>G	noncoding	Benign
16	1455598	C	T	C1455598T	CLCN7	NM_001287.6(CLCN7):c.981+133G>A	noncoding	Benign
16	1455760	A	G	A1455760G	CLCN7	NM_001287.6(CLCN7):c.952T>C:p.Phe318Leu	coding	Pathogenic
16	1455775	C	T	C1455775T	CLCN7	NM_001287.6(CLCN7):c.937G>A:p.Glu313Lys	coding	Pathogenic
16	1455813	G	A	G1455813A	CLCN7	NM_001287.6(CLCN7):c.917-18C>T	noncoding	Benign
16	1455866	C	G	C1455866G	CLCN7	NM_001287.6(CLCN7):c.917-71G>C	noncoding	Benign
16	1455891	G	A	G1455891A	CLCN7	NM_001287.6(CLCN7):c.917-96C>T	noncoding	Benign
16	1455931	G	A	G1455931A	CLCN7	NM_001287.6(CLCN7):c.917-136C>T	noncoding	Benign
16	1455979	C	T	C1455979T	CLCN7	NM_001287.6(CLCN7):c.916+134G>A	noncoding	Benign
16	1456010	G	A	G1456010A	CLCN7	NM_001287.6(CLCN7):c.916+103C>T	noncoding	Benign
16	1456033	C	A	C1456033A	CLCN7	NM_001287.6(CLCN7):c.916+80G>T	noncoding	Benign
16	1456101	G	A	G1456101A	CLCN7	NM_001287.6(CLCN7):c.916+12C>T	noncoding	Benign
16	1456173	G	A	G1456173A	CLCN7	NM_001287.6(CLCN7):c.856C>T:p.Arg286Trp	coding	Pathogenic/Likely_pathogenic
16	1456317	A	G	A1456317G	CLCN7	NM_001287.6(CLCN7):c.823-111T>C	noncoding	Benign
16	1456406	G	C	G1456406C	CLCN7	NM_001287.6(CLCN7):c.823-200C>G	noncoding	Benign
16	1456462	A	G	A1456462G	CLCN7	NM_001287.6(CLCN7):c.823-256T>C	noncoding	Benign
16	1456489	G	A	G1456489A	CLCN7	NM_001287.6(CLCN7):c.823-283C>T	noncoding	Benign
16	1456999	T	C	T1456999C	CLCN7	NM_001287.6(CLCN7):c.822+255A>G	noncoding	Benign
16	1457236	C	T	C1457236T	CLCN7	NM_001287.6(CLCN7):c.822+18G>A	noncoding	Benign
16	1457330	G	A	G1457330A	CLCN7	NM_001287.6(CLCN7):c.746C>T:p.Pro249Leu	coding	Pathogenic
16	1457356	G	A	G1457356A	CLCN7	NM_001287.6(CLCN7):c.739-19C>T	noncoding	Benign
16	1457714	C	T	C1457714T	CLCN7	NM_001287.6(CLCN7):c.718G>A:p.Gly240Arg	coding	Pathogenic
16	1457774	G	A	G1457774A	CLCN7	NM_001287.6(CLCN7):c.676-18C>T	noncoding	Benign
16	1457777	T	C	T1457777C	CLCN7	NM_001287.6(CLCN7):c.676-21A>G	noncoding	Benign
16	1457841	C	T	C1457841T	CLCN7	NM_001287.6(CLCN7):c.676-85G>A	noncoding	Benign
16	1457842	G	C	G1457842C	CLCN7	NM_001287.6(CLCN7):c.676-86C>G	noncoding	Benign
16	1457987	C	T	C1457987T	CLCN7	NM_001287.6(CLCN7):c.676-231G>A	noncoding	Benign
16	1458974	C	A	C1458974A	CLCN7	NM_001287.6(CLCN7):c.675+133G>T	noncoding	Benign
16	1458987	T	C	T1458987C	CLCN7	NM_001287.6(CLCN7):c.675+120A>G	noncoding	Benign
16	1459205	C	T	C1459205T	CLCN7	NM_001287.6(CLCN7):c.595-18G>A	noncoding	Benign
16	1459206	G	A	G1459206A	CLCN7	NM_001287.6(CLCN7):c.595-19C>T	noncoding	Benign
16	1460202	A	G	A1460202G	CLCN7	NM_001287.6(CLCN7):c.594+216T>C	noncoding	Benign
16	1460283	A	G	A1460283G	CLCN7	NM_001287.6(CLCN7):c.594+135T>C	noncoding	Benign
16	1460401	G	A	G1460401A	CLCN7	NM_001287.6(CLCN7):c.594+17C>T	noncoding	Benign
16	1460566	T	G	T1460566G	CLCN7	NM_001287.6(CLCN7):c.485-39A>C	noncoding	Benign
16	1460633	G	A	G1460633A	CLCN7	NM_001287.6(CLCN7):c.485-106C>T	noncoding	Benign
16	1460706	C	G	C1460706G	CLCN7	NM_001287.6(CLCN7):c.484+110G>C	noncoding	Benign
16	1460799	C	T	C1460799T	CLCN7	NM_001287.6(CLCN7):c.484+17G>A	noncoding	Benign
16	1461371	C	T	C1461371T	CLCN7	NM_001287.6(CLCN7):c.351+34G>A	noncoding	Benign
16	1461406	G	A	G1461406A	CLCN7	NM_001287.6(CLCN7):c.350C>T:p.Thr117Met	coding	Benign/Likely_benign
16	1461551	G	T	G1461551T	CLCN7	NM_001287.6(CLCN7):c.285+52C>A	noncoding	Benign
16	1461757	A	G	A1461757G	CLCN7	NM_001287.6(CLCN7):c.214-83T>C	noncoding	Benign
16	1461810	C	T	C1461810T	CLCN7	NM_001287.6(CLCN7):c.214-136G>A	noncoding	Benign
16	1465161	C	T	C1465161T	CLCN7	NM_001287.6(CLCN7):c.213+106G>A	noncoding	Benign
16	1465247	G	T	G1465247T	CLCN7	NM_001287.6(CLCN7):c.213+20C>A	noncoding	Benign
16	1465414	G	T	G1465414T	CLCN7	NM_001287.6(CLCN7):c.142-76C>A	noncoding	Benign
16	1465502	G	A	G1465502A	CLCN7	NM_001287.6(CLCN7):c.142-164C>T	noncoding	Benign
16	1465514	G	A	G1465514A	CLCN7	NM_001287.6(CLCN7):c.142-176C>T	noncoding	Benign
16	1474603	C	T	C1474603T	CLCN7	NM_001287.6(CLCN7):c.141+231G>A	noncoding	Benign
16	1474815	G	C	G1474815C	CLCN7	NM_001287.6(CLCN7):c.141+19C>G	noncoding	Benign
16	1475108	C	G	C1475108G	CLCN7	Single_allele	noncoding	Benign
16	1494300	G	C	G1494300C	TELO2	NM_016111.4(TELO2):c.19G>C:p.Glu7Gln	coding	Benign
16	1494301	A	G	A1494301G	TELO2	NM_016111.4(TELO2):c.20A>G:p.Glu7Gly	coding	Benign
16	1495447	A	G	A1495447G	TELO2	NM_016111.4(TELO2):c.437A>G:p.Gln146Arg	coding	Benign
16	1495641	G	C	G1495641C	TELO2	NM_016111.4(TELO2):c.613+18G>C	noncoding	Benign
16	1497124	C	T	C1497124T	TELO2	NM_016111.4(TELO2):c.682+20C>T	noncoding	Benign
16	1497219	C	T	C1497219T	TELO2	NM_016111.4(TELO2):c.682+115C>T	noncoding	Benign
16	1497476	T	C	T1497476C	TELO2	NM_016111.4(TELO2):c.798T>C:p.Ala266=	coding	Benign
16	1500327	G	A	G1500327A	TELO2	NM_016111.4(TELO2):c.1003-20G>A	noncoding	Benign
16	1500370	G	A	G1500370A	TELO2	NM_016111.4(TELO2):c.1026G>A:p.Thr342=	coding	Benign
16	1500408	C	T	C1500408T	TELO2	NM_016111.4(TELO2):c.1064C>T:p.Pro355Leu	coding	Benign
16	1500548	G	A	G1500548A	TELO2	NM_016111.4(TELO2):c.1145-15G>A	noncoding	Benign
16	1502760	C	T	C1502760T	TELO2	NM_016111.4(TELO2):c.1769C>T:p.Pro590Leu	coding	Benign
16	1502771	C	T	C1502771T	TELO2	NM_016111.4(TELO2):c.1770+10C>T	noncoding	Benign
16	1502772	G	A	G1502772A	TELO2	NM_016111.4(TELO2):c.1770+11G>A	noncoding	Benign
16	1502985	C	T	C1502985T	TELO2	NM_016111.4(TELO2):c.1825C>T:p.Arg609Cys	coding	Pathogenic
16	1505588	A	G	A1505588G	TELO2	NM_016111.4(TELO2):c.2021A>G:p.Gln674Arg	coding	Benign
16	1507089	A	G	A1507089G	TELO2	NM_016111.4(TELO2):c.2226+38A>G	noncoding	Benign
16	1507267	C	T	C1507267T	TELO2	NM_016111.4(TELO2):c.2227-39C>T	noncoding	Benign
16	1507596	G	A	G1507596A	TELO2	NM_016111.4(TELO2):c.2292-5G>A	noncoding	Benign
16	1509837	T	C	T1509837C	TELO2	NM_016111.4(TELO2):c.2415T>C:p.Ala805=	coding	Benign
16	1511014	C	T	C1511014T	IFT140	NM_014714.4(IFT140):c.4319G>A:p.Arg1440His	coding	Benign/Likely_benign
16	1511322	G	A	G1511322A	IFT140	NM_014714.4(IFT140):c.4183-172C>T	noncoding	Benign
16	1511338	C	A	C1511338A	IFT140	NM_014714.4(IFT140):c.4183-188G>T	noncoding	Benign
16	1518401	A	G	A1518401G	IFT140	NM_014714.4(IFT140):c.4041-44T>C	noncoding	Benign
16	1519710	G	A	G1519710A	IFT140	NM_014714.4(IFT140):c.4040+171C>T	noncoding	Benign
16	1519866	G	C	G1519866C	IFT140	NM_014714.4(IFT140):c.4040+15C>G	noncoding	Benign
16	1519870	C	T	C1519870T	IFT140	NM_014714.4(IFT140):c.4040+11G>A	noncoding	Benign/Likely_benign
16	1520058	G	A	G1520058A	IFT140	NM_014714.4(IFT140):c.3874-11C>T	noncoding	Benign/Likely_benign
16	1520277	G	A	G1520277A	IFT140	NM_014714.4(IFT140):c.3727C>T:p.Gln1243Ter	coding	Pathogenic
16	1520361	G	A	G1520361A	IFT140	NM_014714.4(IFT140):c.3661-18C>T	noncoding	Benign
16	1520622	G	A	G1520622A	IFT140	NM_014714.4(IFT140):c.3640C>T:p.Gln1214Ter	coding	Pathogenic
16	1520856	T	C	T1520856C	IFT140	NM_014714.4(IFT140):c.3454-48A>G	noncoding	Benign
16	1523484	G	A	G1523484A	IFT140	NM_014714.4(IFT140):c.3453+34C>T	noncoding	Benign
16	1523753	C	T	C1523753T	IFT140	NM_014714.4(IFT140):c.3271-53G>A	noncoding	Benign
16	1523884	G	A	G1523884A	IFT140	NM_014714.4(IFT140):c.3214C>T:p.Arg1072Ter	coding	Pathogenic/Likely_pathogenic
16	1523942	G	A	G1523942A	IFT140	NM_014714.4(IFT140):c.3156C>T:p.Asp1052=	coding	Benign
16	1524029	G	C	G1524029C	IFT140	NM_014714.4(IFT140):c.3142-73C>G	noncoding	Benign
16	1524584	G	A	G1524584A	IFT140	NM_014714.4(IFT140):c.3109C>T:p.Gln1037Ter	coding	Pathogenic
16	1524847	G	T	G1524847T	IFT140	NM_014714.4(IFT140):c.2934C>A:p.Tyr978Ter	coding	Pathogenic
16	1524967	C	T	C1524967T	IFT140	NM_014714.4(IFT140):c.2865-51G>A	noncoding	Benign
16	1525703	T	C	T1525703C	IFT140	NM_014714.4(IFT140):c.2768+184A>G	noncoding	Benign
16	1525869	C	T	C1525869T	IFT140	NM_014714.4(IFT140):c.2768+18G>A	noncoding	Benign
16	1525978	C	A	C1525978A	IFT140	NM_014714.4(IFT140):c.2677G>T:p.Glu893Ter	coding	Pathogenic
16	1525999	G	A	G1525999A	IFT140	NM_014714.4(IFT140):c.2656C>T:p.Gln886Ter	coding	Pathogenic
16	1526234	C	T	C1526234T	IFT140	NM_014714.4(IFT140):c.2578-157G>A	noncoding	Benign
16	1526426	C	G	C1526426G	IFT140	NM_014714.4(IFT140):c.2577+193G>C	noncoding	Benign
16	1526435	G	A	G1526435A	IFT140	NM_014714.4(IFT140):c.2577+184C>T	noncoding	Benign
16	1526696	G	A	G1526696A	IFT140	NM_014714.4(IFT140):c.2500C>T:p.Arg834Ter	coding	Pathogenic
16	1526703	G	A	G1526703A	IFT140	NM_014714.4(IFT140):c.2493C>T:p.Arg831=	coding	Benign
16	1526753	G	A	G1526753A	IFT140	NM_014714.4(IFT140):c.2443C>T:p.Gln815Ter	coding	Pathogenic
16	1526809	G	A	G1526809A	IFT140	NM_014714.4(IFT140):c.2400-13C>T	noncoding	Benign
16	1558176	A	G	A1558176G	IFT140	NM_014714.4(IFT140):c.2200-42T>C	noncoding	Benign
16	1563985	G	A	G1563985A	IFT140	NM_014714.4(IFT140):c.2067+12C>T	noncoding	Benign
16	1564026	G	A	G1564026A	IFT140	NM_014714.4(IFT140):c.2038C>T:p.Gln680Ter	coding	Pathogenic/Likely_pathogenic
16	1571536	T	A	T1571536A	IFT140	NM_014714.4(IFT140):c.1525-2A>T	noncoding	Pathogenic
16	1571719	G	A	G1571719A	IFT140	NM_014714.4(IFT140):c.1525-185C>T	noncoding	Benign
16	1580745	G	C	G1580745C	IFT140	NM_014714.4(IFT140):c.1524+14C>G	noncoding	Benign/Likely_benign
16	1580770	G	A	G1580770A	IFT140	NM_014714.4(IFT140):c.1513C>T:p.Arg505Ter	coding	Pathogenic
16	1580782	G	A	G1580782A	IFT140	NM_014714.4(IFT140):c.1501C>T:p.Arg501Ter	coding	Pathogenic
16	1584205	C	G	C1584205G	IFT140	NM_014714.4(IFT140):c.1359+12G>C	noncoding	Benign
16	1584603	T	A	T1584603A	IFT140	NM_014714.4(IFT140):c.1156-183A>T	noncoding	Benign
16	1585907	G	A	G1585907A	IFT140	NM_014714.4(IFT140):c.1155+223C>T	noncoding	Benign
16	1586138	G	A	G1586138A	IFT140	NM_014714.4(IFT140):c.1147C>T:p.Gln383Ter	coding	Pathogenic
16	1586246	G	A	G1586246A	IFT140	NM_014714.4(IFT140):c.1039C>T:p.Arg347Ter	coding	Pathogenic
16	1587140	C	T	C1587140T	IFT140	NM_014714.4(IFT140):c.1009+58G>A	noncoding	Benign
16	1587288	G	A	G1587288A	IFT140	NM_014714.4(IFT140):c.919C>T:p.Arg307Ter	coding	Pathogenic
16	1588159	T	C	T1588159C	IFT140	NM_014714.4(IFT140):c.811-135A>G	noncoding	Benign
16	1589781	C	G	C1589781G	IFT140	NM_014714.4(IFT140):c.635-1G>C	coding	Pathogenic
16	1589859	A	T	A1589859T	IFT140	NM_014714.4(IFT140):c.635-79T>A	noncoding	Benign
16	1591977	C	T	C1591977T	IFT140	NM_014714.4(IFT140):c.634+199G>A	noncoding	Benign
16	1591994	C	T	C1591994T	IFT140	NM_014714.4(IFT140):c.634+182G>A	noncoding	Benign
16	1592216	C	T	C1592216T	IFT140	NM_014714.4(IFT140):c.594G>A:p.Gly198=	coding	Benign
16	1592338	G	A	G1592338A	IFT140	NM_014714.4(IFT140):c.492-20C>T	noncoding	Benign
16	1592422	C	T	C1592422T	IFT140	NM_014714.4(IFT140):c.491+45G>A	noncoding	Benign
16	1592468	C	A	C1592468A	IFT140	NM_014714.4(IFT140):c.490G>T:p.Glu164Ter	coding	Pathogenic
16	1602613	T	A	T1602613A	IFT140	NM_014714.4(IFT140):c.148-22A>T	noncoding	Benign
16	1602620	A	G	A1602620G	IFT140	NM_014714.4(IFT140):c.148-29T>C	noncoding	Benign
16	1602664	G	A	G1602664A	IFT140	NM_014714.4(IFT140):c.148-73C>T	noncoding	Benign
16	1607011	C	T	C1607011T	IFT140	NM_014714.4(IFT140):c.147+109G>A	noncoding	Benign
16	1607349	A	T	A1607349T	IFT140	NM_014714.4(IFT140):c.-31-52T>A	noncoding	Benign
16	1706348	G	A	G1706348A	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.9G>A:p.Glu3=	coding	Benign
16	1729555	C	T	C1729555T	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.579C>T:p.Thr193_Glu194=	coding	Benign
16	1762971	G	C	G1762971C	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.1863G>C:p.Ser621=	coding	Benign
16	1764390	T	C	T1764390C	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.2211T>C:p.Asp737=	coding	Benign
16	1764439	A	G	A1764439G	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.2260A>G:p.Thr754Ala	coding	Benign
16	1765945	C	T	C1765945T	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.2447-15C>T	noncoding	Benign
16	1765985	C	T	C1765985T	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.2472C>T:p.Pro824_Gly825=	coding	Benign
16	1766738	G	A	G1766738A	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.2955G>A:p.Ser985_Ala986=	coding	Benign
16	1767753	A	G	A1767753G	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.3409+18A>G	noncoding	Benign
16	1767767	T	G	T1767767G	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.3409+32T>G	noncoding	Benign
16	1767934	A	C	A1767934C	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.3523+16A>C	noncoding	Benign
16	1768151	C	T	C1768151T	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.3562+44C>T	noncoding	Benign
16	1768152	T	C	T1768152C	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.3562+45T>C	noncoding	Benign
16	1768502	G	C	G1768502C	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.3768G>C:p.Gly1256=	coding	Benign
16	1768633	G	A	G1768633A	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.3892+7G>A	noncoding	Benign
16	1768679	G	C	G1768679C	MAPK8IP3	NM_001318852.2(MAPK8IP3):c.3893-24G>C	noncoding	Benign
16	1772158	T	C	T1772158C	MRPS34	NM_023936.2(MRPS34):c.*63A>G	noncoding	Benign
16	1772371	G	A	G1772371A	MRPS34	NM_023936.2(MRPS34):c.507C>T:p.Leu169=	coding	Benign/Likely_benign
16	1772380	G	A	G1772380A	MRPS34	NM_023936.2(MRPS34):c.498C>T:p.Tyr166=	coding	Benign
16	1772442	C	G	C1772442G	MRPS34	NM_023936.2(MRPS34):c.436G>C:p.Glu146Gln	coding	Benign/Likely_benign
16	1772595	G	A	G1772595A	MRPS34	NM_023936.2(MRPS34):c.364+9C>T	noncoding	Benign
16	1772641	C	G	C1772641G	MRPS34	NM_023936.2(MRPS34):c.327G>C:p.Leu109Phe	coding	Benign
16	1772786	G	C	G1772786C	MRPS34	NM_023936.2(MRPS34):c.321+13C>G	noncoding	Benign
16	1772946	C	G	C1772946G	MRPS34	NM_023936.2(MRPS34):c.174G>C:p.Val58=	coding	Benign
16	1773053	C	G	C1773053G	MRPS34	NM_023936.2(MRPS34):c.67G>C:p.Glu23Gln	coding	Benign
16	1844960	A	G	A1844960G	MEIOB	NM_001163560.3(MEIOB):c.782T>C:p.Ile261Thr	coding	Benign
16	1912189	T	A	T1912189A	HS3ST6	NM_001009606.4(HS3ST6):c.430A>T:p.Thr144Ser	coding	Pathogenic
16	1945855	G	A	G1945855A	RPL3L	NM_005061.3(RPL3L):c.1027C>T:p.Arg343Trp	coding	Pathogenic
16	1946653	T	A	T1946653A	RPL3L	NM_005061.3(RPL3L):c.923A>T:p.Asp308Val	coding	Pathogenic
16	1946654	C	T	C1946654T	RPL3L	NM_005061.3(RPL3L):c.922G>A:p.Asp308Asn	coding	Pathogenic
16	1947316	G	A	G1947316A	RPL3L	NM_005061.3(RPL3L):c.566C>T:p.Thr189Met	coding	Pathogenic
16	1950864	G	A	G1950864A	RPL3L	NM_005061.3(RPL3L):c.481C>T:p.Arg161Trp	coding	Pathogenic
16	1952892	C	T	C1952892T	RPL3L	NM_005061.3(RPL3L):c.347G>A:p.Arg116His	coding	Pathogenic
16	1984660	T	C	T1984660C	GFER	NM_005262.3(GFER):c.259-87T>C	noncoding	Benign
16	1985613	G	C	G1985613C	GFER	NM_005262.3(GFER):c.456-253G>C	noncoding	Benign
16	1985985	A	G	A1985985G	GFER	NM_005262.3(GFER):c.575A>G:p.Asp192Gly	coding	Pathogenic
16	1986047	T	C	T1986047C	GFER	NM_005262.3(GFER):c.*19T>C	noncoding	Benign
16	1986215	T	A	T1986215A	GFER	NM_005262.3(GFER):c.*187T>A	noncoding	Benign
16	2040004	G	A	G2040004A	NTHL1	NM_002528.7(NTHL1):c.835C>T:p.Gln279Ter	coding	Pathogenic/Likely_pathogenic
16	2040188	T	A	T2040188A	NTHL1	NM_002528.7(NTHL1):c.736A>T:p.Lys246Ter	coding	Pathogenic
16	2043684	G	A	G2043684A	NTHL1	NM_002528.7(NTHL1):c.568C>T:p.Gln190Ter	coding	Pathogenic
16	2045064	T	C	T2045064C	NTHL1	NM_002528.7(NTHL1):c.355-264A>G	noncoding	Benign
16	2046226	G	A	G2046226A	NTHL1	NM_002528.7(NTHL1):c.256C>T:p.Gln86Ter	coding	Pathogenic
16	2046245	C	T	C2046245T	NTHL1	NM_002528.7(NTHL1):c.237G>A:p.Trp79Ter	coding	Pathogenic
16	2046262	G	A	G2046262A	NTHL1	NM_002528.7(NTHL1):c.220C>T:p.Leu74Phe	coding	Pathogenic
16	2046383	G	A	G2046383A	NTHL1	NM_002528.7(NTHL1):c.116-17C>T	noncoding	Benign
16	2047692	C	T	C2047692T	NTHL1	NM_002528.7(NTHL1):c.115+17G>A	noncoding	Benign
16	2047708	C	T	C2047708T	NTHL1	NM_002528.7(NTHL1):c.115+1G>A	noncoding	Pathogenic/Likely_pathogenic
16	2047813	A	T	A2047813T	NTHL1	NM_002528.7(NTHL1):c.11T>A:p.Leu4Ter	coding	Pathogenic
16	2047835	G	A	G2047835A	NTHL1	NC_000016.9:g.2097836G>A	coding	Pathogenic
16	2048047	C	G	C2048047G	TSC2	NM_000548.5(TSC2):c.-48C>G	noncoding	Benign
16	2048646	T	C	T2048646C	TSC2	NM_000548.5(TSC2):c.31T>C:p.Leu11=	coding	Benign/Likely_benign
16	2048698	C	A	C2048698A	TSC2	NM_000548.5(TSC2):c.83C>A:p.Pro28His	coding	Benign/Likely_benign
16	2048723	G	A	G2048723A	TSC2	NM_000548.5(TSC2):c.108G>A:p.Thr36=	coding	Benign/Likely_benign
16	2048738	C	T	C2048738T	TSC2	NM_000548.5(TSC2):c.123C>T:p.Thr41=	coding	Benign/Likely_benign
16	2048748	C	T	C2048748T	TSC2	NM_000548.5(TSC2):c.133C>T:p.Leu45=	coding	Benign/Likely_benign
16	2048758	G	A	G2048758A	TSC2	NM_000548.5(TSC2):c.138+5G>A	noncoding	Pathogenic
16	2048758	G	C	G2048758C	TSC2	NM_000548.5(TSC2):c.138+5G>C	noncoding	Pathogenic
16	2050426	C	T	C2050426T	TSC2	NM_000548.5(TSC2):c.165C>T:p.Asn55=	coding	Benign/Likely_benign
16	2050481	G	T	G2050481T	TSC2	NM_000548.5(TSC2):c.220G>T:p.Glu74Ter	coding	Pathogenic
16	2050484	G	A	G2050484A	TSC2	NM_000548.5(TSC2):c.223G>A:p.Glu75Lys	coding	Benign/Likely_benign
16	2053342	C	T	C2053342T	TSC2	NM_000548.5(TSC2):c.226C>T:p.His76Tyr	coding	Benign/Likely_benign
16	2053347	A	C	A2053347C	TSC2	NM_000548.5(TSC2):c.231A>C:p.Ala77=	coding	Benign/Likely_benign
16	2053361	G	A	G2053361A	TSC2	NM_000548.5(TSC2):c.245G>A:p.Trp82Ter	coding	Pathogenic
16	2053389	G	A	G2053389A	TSC2	NM_000548.5(TSC2):c.273G>A:p.Pro91=	coding	Benign/Likely_benign
16	2053398	G	A	G2053398A	TSC2	NM_000548.5(TSC2):c.282G>A:p.Pro94=	coding	Benign/Likely_benign
16	2053440	C	T	C2053440T	TSC2	NM_000548.5(TSC2):c.324C>T:p.Ile108=	coding	Benign/Likely_benign
16	2053443	G	A	G2053443A	TSC2	NM_000548.5(TSC2):c.327G>A:p.Val109=	coding	Benign/Likely_benign
16	2053457	G	C	G2053457C	TSC2	NM_000548.5(TSC2):c.336+5G>C	noncoding	Pathogenic/Likely_pathogenic
16	2053460	C	T	C2053460T	TSC2	NM_000548.5(TSC2):c.336+8C>T	noncoding	Benign/Likely_benign
16	2053484	C	T	C2053484T	TSC2	NM_000548.5(TSC2):c.336+32C>T	noncoding	Benign
16	2054299	G	A	G2054299A	TSC2	NM_000548.5(TSC2):c.340G>A:p.Glu114Lys	coding	Benign/Likely_benign
16	2054303	G	A	G2054303A	TSC2	NM_000548.5(TSC2):c.344G>A:p.Arg115His	coding	Benign/Likely_benign
16	2054316	C	G	C2054316G	TSC2	NM_000548.5(TSC2):c.357C>G:p.Leu119=	coding	Benign/Likely_benign
16	2054325	C	T	C2054325T	TSC2	NM_000548.5(TSC2):c.366C>T:p.Leu122=	coding	Benign/Likely_benign
16	2054354	C	G	C2054354G	TSC2	NM_000548.5(TSC2):c.395C>G:p.Ser132Cys	coding	Benign/Likely_benign
16	2054367	T	G	T2054367G	TSC2	NM_000548.5(TSC2):c.408T>G:p.Leu136=	coding	Benign/Likely_benign
16	2054379	G	A	G2054379A	TSC2	NM_000548.5(TSC2):c.420G>A:p.Leu140=	coding	Benign/Likely_benign
16	2054392	G	A	G2054392A	TSC2	NM_000548.5(TSC2):c.433G>A:p.Ala145Thr	coding	Benign/Likely_benign
16	2054403	C	T	C2054403T	TSC2	NM_000548.5(TSC2):c.444C>T:p.Asp148=	coding	Benign/Likely_benign
16	2054409	G	A	G2054409A	TSC2	NM_000548.5(TSC2):c.450G>A:p.Gly150=	coding	Benign/Likely_benign
16	2054415	C	T	C2054415T	TSC2	NM_000548.5(TSC2):c.456C>T:p.His152=	coding	Benign/Likely_benign
16	2054449	C	T	C2054449T	TSC2	NM_000548.5(TSC2):c.481+9C>T	noncoding	Benign/Likely_benign
16	2055334	C	G	C2055334G	TSC2	NM_000548.5(TSC2):c.482-68C>G	noncoding	Benign
16	2055382	T	A	T2055382A	TSC2	NM_000548.5(TSC2):c.482-20T>A	noncoding	Benign/Likely_benign
16	2055386	G	A	G2055386A	TSC2	NM_000548.5(TSC2):c.482-16G>A	noncoding	Benign
16	2055398	C	T	C2055398T	TSC2	NM_000548.5(TSC2):c.482-4C>T	noncoding	Benign/Likely_benign
16	2055406	C	T	C2055406T	TSC2	NM_000548.5(TSC2):c.486C>T:p.Asp162=	coding	Benign/Likely_benign
16	2055452	C	T	C2055452T	TSC2	NM_000548.5(TSC2):c.532C>T:p.Leu178=	coding	Benign/Likely_benign
16	2055472	C	T	C2055472T	TSC2	NM_000548.5(TSC2):c.552C>T:p.Val184=	coding	Benign/Likely_benign
16	2055493	C	T	C2055493T	TSC2	NM_000548.5(TSC2):c.573C>T:p.Leu191=	coding	Benign/Likely_benign
16	2055502	C	T	C2055502T	TSC2	NM_000548.5(TSC2):c.582C>T:p.Tyr194=	coding	Benign/Likely_benign
16	2055506	G	A	G2055506A	TSC2	NM_000548.5(TSC2):c.586G>A:p.Ala196Thr	coding	Benign/Likely_benign
16	2055529	G	C	G2055529C	TSC2	NM_000548.5(TSC2):c.599+10G>C	noncoding	Benign/Likely_benign
16	2056016	C	A	C2056016A	TSC2	NM_000548.5(TSC2):c.600-180C>A	noncoding	Benign
16	2056072	G	A	G2056072A	TSC2	NM_000548.5(TSC2):c.600-124G>A	noncoding	Pathogenic
16	2056194	A	T	A2056194T	TSC2	NM_000548.5(TSC2):c.600-2A>T	noncoding	Pathogenic
16	2056214	C	T	C2056214T	TSC2	NM_000548.5(TSC2):c.618C>T:p.Cys206=	coding	Benign/Likely_benign
16	2056219	G	A	G2056219A	TSC2	NM_000548.5(TSC2):c.623G>A:p.Arg208Gln	coding	Benign/Likely_benign
16	2056223	C	T	C2056223T	TSC2	NM_000548.5(TSC2):c.627C>T:p.Thr209=	coding	Benign/Likely_benign
16	2056229	C	G	C2056229G	TSC2	NM_000548.5(TSC2):c.633C>G:p.Ser211=	coding	Benign/Likely_benign
16	2056624	G	A	G2056624A	TSC2	NM_000548.5(TSC2):c.649-20G>A	noncoding	Benign/Likely_benign
16	2056626	C	T	C2056626T	TSC2	NM_000548.5(TSC2):c.649-18C>T	noncoding	Benign/Likely_benign
16	2056650	C	T	C2056650T	TSC2	NM_000548.5(TSC2):c.655C>T:p.Leu219=	coding	Benign/Likely_benign
16	2056705	C	T	C2056705T	TSC2	NM_000548.5(TSC2):c.710C>T:p.Pro237Leu	coding	Benign/Likely_benign
16	2056739	C	T	C2056739T	TSC2	NM_000548.5(TSC2):c.744C>T:p.Asn248=	coding	Benign/Likely_benign
16	2056771	T	A	T2056771A	TSC2	NM_000548.5(TSC2):c.774+2T>A	noncoding	Pathogenic
16	2057144	G	A	G2057144A	TSC2	NM_000548.5(TSC2):c.814G>A:p.Ala272Thr	coding	Benign/Likely_benign
16	2057167	C	T	C2057167T	TSC2	NM_000548.5(TSC2):c.837C>T:p.Leu279=	coding	Benign/Likely_benign
16	2057321	G	T	G2057321T	TSC2	NM_000548.5(TSC2):c.848+143G>T	noncoding	Benign
16	2057454	C	G	C2057454G	TSC2	NM_000548.5(TSC2):c.848+276C>G	noncoding	Benign/Likely_benign
16	2058753	C	G	C2058753G	TSC2	NM_000548.5(TSC2):c.855C>G:p.Tyr285Ter	coding	Pathogenic
16	2058759	G	C	G2058759C	TSC2	NM_000548.5(TSC2):c.861G>C:p.Glu287Asp	coding	Benign/Likely_benign
16	2058762	C	T	C2058762T	TSC2	NM_000548.5(TSC2):c.864C>T:p.Asp288=	coding	Benign/Likely_benign
16	2058764	C	T	C2058764T	TSC2	NM_000548.5(TSC2):c.866C>T:p.Ala289Val	coding	Benign/Likely_benign
16	2058765	G	A	G2058765A	TSC2	NM_000548.5(TSC2):c.867G>A:p.Ala289=	coding	Benign/Likely_benign
16	2058783	C	T	C2058783T	TSC2	NM_000548.5(TSC2):c.885C>T:p.Ala295=	coding	Benign/Likely_benign
16	2058843	G	A	G2058843A	TSC2	NM_000548.5(TSC2):c.945G>A:p.Ser315=	coding	Benign/Likely_benign
16	2058849	A	G	A2058849G	TSC2	NM_000548.5(TSC2):c.951A>G:p.Thr317=	coding	Benign/Likely_benign
16	2058871	C	T	C2058871T	TSC2	NM_000548.5(TSC2):c.973C>T:p.Gln325Ter	coding	Pathogenic/Likely_pathogenic
16	2058875	T	C	T2058875C	TSC2	NM_000548.5(TSC2):c.975+2T>C	noncoding	Pathogenic
16	2058886	C	T	C2058886T	TSC2	NM_000548.5(TSC2):c.975+13C>T	noncoding	Benign/Likely_benign
16	2058888	G	A	G2058888A	TSC2	NM_000548.5(TSC2):c.975+15G>A	noncoding	Benign
16	2060681	T	A	T2060681A	TSC2	NM_000548.5(TSC2):c.987T>A:p.Cys329Ter	coding	Pathogenic
16	2060683	C	T	C2060683T	TSC2	NM_000548.5(TSC2):c.989C>T:p.Pro330Leu	coding	Benign/Likely_benign
16	2060687	C	T	C2060687T	TSC2	NM_000548.5(TSC2):c.993C>T:p.Asn331=	coding	Benign/Likely_benign
16	2060709	G	A	G2060709A	TSC2	NM_000548.5(TSC2):c.1015G>A:p.Val339Ile	coding	Benign/Likely_benign
16	2060760	G	C	G2060760C	TSC2	NM_000548.5(TSC2):c.1066G>C:p.Val356Leu	coding	Benign/Likely_benign
16	2060765	G	A	G2060765A	TSC2	NM_000548.5(TSC2):c.1071G>A:p.Ala357=	coding	Benign/Likely_benign
16	2060768	G	A	G2060768A	TSC2	NM_000548.5(TSC2):c.1074G>A:p.Trp358Ter	coding	Pathogenic
16	2060771	C	T	C2060771T	TSC2	NM_000548.5(TSC2):c.1077C>T:p.Asp359=	coding	Benign/Likely_benign
16	2060777	G	A	G2060777A	TSC2	NM_000548.5(TSC2):c.1083G>A:p.Leu361=	coding	Benign/Likely_benign
16	2060795	G	C	G2060795C	TSC2	NM_000548.5(TSC2):c.1101G>C:p.Arg367=	coding	Benign/Likely_benign
16	2061854	C	T	C2061854T	TSC2	NM_000548.5(TSC2):c.1120-17C>T	noncoding	Benign/Likely_benign
16	2061897	C	A	C2061897A	TSC2	NM_000548.5(TSC2):c.1146C>A:p.Thr382=	coding	Benign/Likely_benign
16	2061901	G	A	G2061901A	TSC2	NM_000548.5(TSC2):c.1150G>A:p.Val384Ile	coding	Benign/Likely_benign
16	2061933	G	A	G2061933A	TSC2	NM_000548.5(TSC2):c.1182G>A:p.Leu394=	coding	Benign/Likely_benign
16	2061961	C	T	C2061961T	TSC2	NM_000548.5(TSC2):c.1210C>T:p.Gln404Ter	coding	Pathogenic
16	2062018	C	G	C2062018G	TSC2	NM_000548.5(TSC2):c.1257+10C>G	noncoding	Benign/Likely_benign
16	2062495	A	G	A2062495G	TSC2	NM_000548.5(TSC2):c.1258-2A>G	noncoding	Pathogenic
16	2062499	G	A	G2062499A	TSC2	NM_000548.5(TSC2):c.1260G>A:p.Glu420=	coding	Benign/Likely_benign
16	2062520	C	A	C2062520A	TSC2	NM_000548.5(TSC2):c.1281C>A:p.Ile427=	coding	Benign/Likely_benign
16	2062538	C	T	C2062538T	TSC2	NM_000548.5(TSC2):c.1299C>T:p.Ser433=	coding	Benign/Likely_benign
16	2062550	C	A	C2062550A	TSC2	NM_000548.5(TSC2):c.1311C>A:p.Ala437=	coding	Benign/Likely_benign
16	2062556	C	T	C2062556T	TSC2	NM_000548.5(TSC2):c.1317C>T:p.Asp439=	coding	Benign/Likely_benign
16	2062566	C	T	C2062566T	TSC2	NM_000548.5(TSC2):c.1327C>T:p.Gln443Ter	coding	Pathogenic
16	2062580	G	A	G2062580A	TSC2	NM_000548.5(TSC2):c.1341G>A:p.Ala447=	coding	Benign/Likely_benign
16	2062587	G	T	G2062587T	TSC2	NM_000548.5(TSC2):c.1348G>T:p.Glu450Ter	coding	Pathogenic
16	2062620	C	G	C2062620G	TSC2	NM_000548.5(TSC2):c.1361+20C>G	noncoding	Benign/Likely_benign
16	2062967	C	T	C2062967T	TSC2	NM_000548.5(TSC2):c.1362-5C>T	noncoding	Benign/Likely_benign
16	2062968	G	A	G2062968A	TSC2	NM_000548.5(TSC2):c.1362-4G>A	noncoding	Benign/Likely_benign
16	2062970	A	G	A2062970G	TSC2	NM_000548.5(TSC2):c.1362-2A>G	noncoding	Pathogenic
16	2062981	C	G	C2062981G	TSC2	NM_000548.5(TSC2):c.1371C>G:p.Ser457=	coding	Benign/Likely_benign
16	2063011	C	T	C2063011T	TSC2	NM_000548.5(TSC2):c.1401C>T:p.Asp467=	coding	Benign/Likely_benign
16	2063026	G	A	G2063026A	TSC2	NM_000548.5(TSC2):c.1416G>A:p.Val472=	coding	Benign/Likely_benign
16	2063050	T	C	T2063050C	TSC2	NM_000548.5(TSC2):c.1440T>C:p.Tyr480=	coding	Benign/Likely_benign
16	2063055	T	A	T2063055A	TSC2	NM_000548.5(TSC2):c.1443+2T>A	noncoding	Pathogenic
16	2064277	G	A	G2064277A	TSC2	NM_000548.5(TSC2):c.1449G>A:p.Glu483=	coding	Benign/Likely_benign
16	2064278	C	T	C2064278T	TSC2	NM_000548.5(TSC2):c.1450C>T:p.Leu484=	coding	Benign/Likely_benign
16	2064283	T	C	T2064283C	TSC2	NM_000548.5(TSC2):c.1455T>C:p.Ile485=	coding	Benign/Likely_benign
16	2064286	C	T	C2064286T	TSC2	NM_000548.5(TSC2):c.1458C>T:p.Asn486=	coding	Benign/Likely_benign
16	2064300	C	T	C2064300T	TSC2	NM_000548.5(TSC2):c.1472C>T:p.Ser491Leu	coding	Benign/Likely_benign
16	2064310	C	G	C2064310G	TSC2	NM_000548.5(TSC2):c.1482C>G:p.Ser494=	coding	Benign/Likely_benign
16	2064320	G	T	G2064320T	TSC2	NM_000548.5(TSC2):c.1492G>T:p.Glu498Ter	coding	Pathogenic
16	2064335	C	T	C2064335T	TSC2	NM_000548.5(TSC2):c.1507C>T:p.Gln503Ter	coding	Pathogenic
16	2064394	C	T	C2064394T	TSC2	NM_000548.5(TSC2):c.1566C>T:p.His522=	coding	Benign/Likely_benign
16	2064431	A	C	A2064431C	TSC2	NM_000548.5(TSC2):c.1599+4A>C	noncoding	Pathogenic
16	2064643	T	G	T2064643G	TSC2	NM_000548.5(TSC2):c.1599+216T>G	noncoding	Benign
16	2065530	C	T	C2065530T	TSC2	NM_000548.5(TSC2):c.1611C>T:p.Arg537=	coding	Benign/Likely_benign
16	2065572	C	G	C2065572G	TSC2	NM_000548.5(TSC2):c.1653C>G:p.Ala551=	coding	Benign/Likely_benign
16	2065572	C	T	C2065572T	TSC2	NM_000548.5(TSC2):c.1653C>T:p.Ala551=	coding	Benign/Likely_benign
16	2065580	C	A	C2065580A	TSC2	NM_000548.5(TSC2):c.1661C>A:p.Ser554Ter	coding	Pathogenic
16	2065605	A	T	A2065605T	TSC2	NM_000548.5(TSC2):c.1686A>T:p.Thr562=	coding	Benign/Likely_benign
16	2065636	G	A	G2065636A	TSC2	NM_000548.5(TSC2):c.1716+1G>A	coding	Pathogenic
16	2065650	C	T	C2065650T	TSC2	NM_000548.5(TSC2):c.1716+15C>T	noncoding	Benign/Likely_benign
16	2065856	T	C	T2065856C	TSC2	NM_000548.5(TSC2):c.1716+221T>C	noncoding	Benign
16	2070440	C	T	C2070440T	TSC2	NM_000548.5(TSC2):c.1717-16C>T	noncoding	Benign/Likely_benign
16	2070450	C	T	C2070450T	TSC2	NM_000548.5(TSC2):c.1717-6C>T	noncoding	Benign/Likely_benign
16	2070455	G	A	G2070455A	TSC2	NM_000548.5(TSC2):c.1717-1G>A	noncoding	Pathogenic
16	2070467	C	T	C2070467T	TSC2	NM_000548.5(TSC2):c.1728C>T:p.Tyr576=	coding	Benign/Likely_benign
16	2070474	C	G	C2070474G	TSC2	NM_000548.5(TSC2):c.1735C>G:p.Pro579Ala	coding	Benign/Likely_benign
16	2070479	A	C	A2070479C	TSC2	NM_000548.5(TSC2):c.1740A>C:p.Ala580=	coding	Benign/Likely_benign
16	2070482	C	T	C2070482T	TSC2	NM_000548.5(TSC2):c.1743C>T:p.Ser581=	coding	Benign/Likely_benign
16	2070485	C	T	C2070485T	TSC2	NM_000548.5(TSC2):c.1746C>T:p.His582=	coding	Benign/Likely_benign
16	2070497	G	A	G2070497A	TSC2	NM_000548.5(TSC2):c.1758G>A:p.Val586=	coding	Benign/Likely_benign
16	2070528	C	T	C2070528T	TSC2	NM_000548.5(TSC2):c.1789C>T:p.His597Tyr	coding	Pathogenic
16	2070532	A	G	A2070532G	TSC2	NM_000548.5(TSC2):c.1793A>G:p.Tyr598Cys	coding	Pathogenic
16	2070533	C	T	C2070533T	TSC2	NM_000548.5(TSC2):c.1794C>T:p.Tyr598=	coding	Benign/Likely_benign
16	2070539	C	T	C2070539T	TSC2	NM_000548.5(TSC2):c.1800C>T:p.His600=	coding	Benign/Likely_benign
16	2070545	C	T	C2070545T	TSC2	NM_000548.5(TSC2):c.1806C>T:p.Tyr602=	coding	Benign/Likely_benign
16	2070554	A	G	A2070554G	TSC2	NM_000548.5(TSC2):c.1815A>G:p.Pro605=	coding	Benign/Likely_benign
16	2070554	A	T	A2070554T	TSC2	NM_000548.5(TSC2):c.1815A>T:p.Pro605=	coding	Benign/Likely_benign
16	2070563	C	T	C2070563T	TSC2	NM_000548.5(TSC2):c.1824C>T:p.Ser608=	coding	Benign/Likely_benign
16	2070588	C	T	C2070588T	TSC2	NM_000548.5(TSC2):c.1839+10C>T	noncoding	Benign/Likely_benign
16	2071509	G	A	G2071509A	TSC2	NM_000548.5(TSC2):c.1840-1G>A	noncoding	Pathogenic
16	2071510	G	C	G2071510C	TSC2	NM_000548.5(TSC2):c.1840G>C:p.Ala614Pro	coding	Pathogenic
16	2071524	G	C	G2071524C	TSC2	NM_000548.5(TSC2):c.1854G>C:p.Leu618=	coding	Benign/Likely_benign
16	2071533	G	A	G2071533A	TSC2	NM_000548.5(TSC2):c.1863G>A:p.Leu621=	coding	Benign/Likely_benign
16	2071534	C	T	C2071534T	TSC2	NM_000548.5(TSC2):c.1864C>T:p.Arg622Trp	coding	Pathogenic/Likely_pathogenic
16	2071535	G	A	G2071535A	TSC2	NM_000548.5(TSC2):c.1865G>A:p.Arg622Gln	coding	Benign/Likely_benign
16	2071575	T	C	T2071575C	TSC2	NM_000548.5(TSC2):c.1905T>C:p.Asp635=	coding	Benign/Likely_benign
16	2071584	G	A	G2071584A	TSC2	NM_000548.5(TSC2):c.1914G>A:p.Val638=	coding	Benign/Likely_benign
16	2071593	C	T	C2071593T	TSC2	NM_000548.5(TSC2):c.1923C>T:p.Ser641=	coding	Benign/Likely_benign
16	2071605	C	G	C2071605G	TSC2	NM_000548.5(TSC2):c.1935C>G:p.Val645=	coding	Benign/Likely_benign
16	2071615	A	G	A2071615G	TSC2	NM_000548.5(TSC2):c.1945A>G:p.Met649Val	coding	Benign/Likely_benign
16	2071636	C	T	C2071636T	TSC2	NM_000548.5(TSC2):c.1946+20C>T	noncoding	Benign/Likely_benign
16	2071780	G	A	G2071780A	TSC2	NM_000548.5(TSC2):c.1947-4G>A	noncoding	Benign/Likely_benign
16	2071785	G	T	G2071785T	TSC2	NM_000548.5(TSC2):c.1948G>T:p.Glu650Ter	coding	Pathogenic
16	2071808	G	A	G2071808A	TSC2	NM_000548.5(TSC2):c.1971G>A:p.Lys657=	coding	Benign/Likely_benign
16	2071814	C	T	C2071814T	TSC2	NM_000548.5(TSC2):c.1977C>T:p.Thr659=	coding	Benign/Likely_benign
16	2071817	C	T	C2071817T	TSC2	NM_000548.5(TSC2):c.1980C>T:p.Ser660=	coding	Benign/Likely_benign
16	2071820	C	T	C2071820T	TSC2	NM_000548.5(TSC2):c.1983C>T:p.Gly661=	coding	Benign/Likely_benign
16	2071838	A	G	A2071838G	TSC2	NM_000548.5(TSC2):c.2001A>G:p.Thr667=	coding	Benign/Likely_benign
16	2071856	G	A	G2071856A	TSC2	NM_000548.5(TSC2):c.2019G>A:p.Ala673=	coding	Benign/Likely_benign
16	2071867	C	T	C2071867T	TSC2	NM_000548.5(TSC2):c.2030C>T:p.Pro677Leu	coding	Benign/Likely_benign
16	2071868	C	T	C2071868T	TSC2	NM_000548.5(TSC2):c.2031C>T:p.Pro677=	coding	Benign/Likely_benign
16	2071872	G	A	G2071872A	TSC2	NM_000548.5(TSC2):c.2035G>A:p.Val679Met	coding	Benign/Likely_benign
16	2071884	T	C	T2071884C	TSC2	NM_000548.5(TSC2):c.2047T>C:p.Ser683Pro	coding	Benign/Likely_benign
16	2071895	C	A	C2071895A	TSC2	NM_000548.5(TSC2):c.2058C>A:p.Tyr686Ter	coding	Pathogenic
16	2071895	C	T	C2071895T	TSC2	NM_000548.5(TSC2):c.2058C>T:p.Tyr686=	coding	Benign/Likely_benign
16	2071916	G	C	G2071916C	TSC2	NM_000548.5(TSC2):c.2079G>C:p.Leu693=	coding	Benign/Likely_benign
16	2071920	C	T	C2071920T	TSC2	NM_000548.5(TSC2):c.2083C>T:p.Gln695Ter	coding	Pathogenic
16	2071924	G	A	G2071924A	TSC2	NM_000548.5(TSC2):c.2087G>A:p.Cys696Tyr	coding	Pathogenic/Likely_pathogenic
16	2071932	C	T	C2071932T	TSC2	NM_000548.5(TSC2):c.2095C>T:p.Gln699Ter	coding	Pathogenic
16	2072235	T	C	T2072235C	TSC2	NM_000548.5(TSC2):c.2098-6T>C	noncoding	Benign/Likely_benign
16	2072265	C	T	C2072265T	TSC2	NM_000548.5(TSC2):c.2122C>T:p.Leu708=	coding	Benign/Likely_benign
16	2072267	G	C	G2072267C	TSC2	NM_000548.5(TSC2):c.2124G>C:p.Leu708=	coding	Benign/Likely_benign
16	2072279	G	A	G2072279A	TSC2	NM_000548.5(TSC2):c.2136G>A:p.Arg712=	coding	Benign/Likely_benign
16	2072300	T	G	T2072300G	TSC2	NM_000548.5(TSC2):c.2157T>G:p.Tyr719Ter	coding	Pathogenic
16	2072301	A	T	A2072301T	TSC2	NM_000548.5(TSC2):c.2158A>T:p.Lys720Ter	coding	Pathogenic
16	2072306	G	A	G2072306A	TSC2	NM_000548.5(TSC2):c.2163G>A:p.Val721=	coding	Benign/Likely_benign
16	2072321	C	G	C2072321G	TSC2	NM_000548.5(TSC2):c.2178C>G:p.Ser726=	coding	Benign/Likely_benign
16	2072327	C	A	C2072327A	TSC2	NM_000548.5(TSC2):c.2184C>A:p.Cys728Ter	coding	Pathogenic
16	2072336	C	T	C2072336T	TSC2	NM_000548.5(TSC2):c.2193C>T:p.Asp731=	coding	Benign/Likely_benign
16	2072365	T	C	T2072365C	TSC2	NM_000548.5(TSC2):c.2220+2T>C	noncoding	Pathogenic
16	2072863	G	A	G2072863A	TSC2	NM_000548.5(TSC2):c.2235G>A:p.Lys745=	coding	Benign/Likely_benign
16	2072873	C	T	C2072873T	TSC2	NM_000548.5(TSC2):c.2245C>T:p.Arg749Trp	coding	Benign/Likely_benign
16	2072878	C	T	C2072878T	TSC2	NM_000548.5(TSC2):c.2250C>T:p.Leu750=	coding	Benign/Likely_benign
16	2072913	T	A	T2072913A	TSC2	NM_000548.5(TSC2):c.2285T>A:p.Leu762Ter	coding	Pathogenic
16	2072918	C	T	C2072918T	TSC2	NM_000548.5(TSC2):c.2290C>T:p.Leu764=	coding	Benign/Likely_benign
16	2072926	G	C	G2072926C	TSC2	NM_000548.5(TSC2):c.2298G>C:p.Val766=	coding	Benign/Likely_benign
16	2072929	T	A	T2072929A	TSC2	NM_000548.5(TSC2):c.2301T>A:p.Val767=	coding	Benign/Likely_benign
16	2072936	C	T	C2072936T	TSC2	NM_000548.5(TSC2):c.2308C>T:p.Leu770=	coding	Benign/Likely_benign
16	2072938	G	C	G2072938C	TSC2	NM_000548.5(TSC2):c.2310G>C:p.Leu770=	coding	Benign/Likely_benign
16	2072943	C	T	C2072943T	TSC2	NM_000548.5(TSC2):c.2315C>T:p.Ala772Val	coding	Benign/Likely_benign
16	2072950	C	T	C2072950T	TSC2	NM_000548.5(TSC2):c.2322C>T:p.Ile774=	coding	Benign/Likely_benign
16	2072956	C	T	C2072956T	TSC2	NM_000548.5(TSC2):c.2328C>T:p.Tyr776=	coding	Benign/Likely_benign
16	2072980	A	G	A2072980G	TSC2	NM_000548.5(TSC2):c.2352A>G:p.Lys784=	coding	Benign/Likely_benign
16	2072989	A	T	A2072989T	TSC2	NM_000548.5(TSC2):c.2355+6A>T	noncoding	Benign/Likely_benign
16	2074209	G	A	G2074209A	TSC2	NM_000548.5(TSC2):c.2365G>A:p.Val789Ile	coding	Benign/Likely_benign
16	2074214	C	G	C2074214G	TSC2	NM_000548.5(TSC2):c.2370C>G:p.Tyr790Ter	coding	Pathogenic
16	2074224	C	T	C2074224T	TSC2	NM_000548.5(TSC2):c.2380C>T:p.Gln794Ter	coding	Pathogenic
16	2074256	C	A	C2074256A	TSC2	NM_000548.5(TSC2):c.2412C>A:p.Cys804Ter	coding	Pathogenic
16	2074256	C	T	C2074256T	TSC2	NM_000548.5(TSC2):c.2412C>T:p.Cys804=	coding	Benign/Likely_benign
16	2074259	C	T	C2074259T	TSC2	NM_000548.5(TSC2):c.2415C>T:p.Val805=	coding	Benign/Likely_benign
16	2074298	C	T	C2074298T	TSC2	NM_000548.5(TSC2):c.2454C>T:p.Ile818=	coding	Benign/Likely_benign
16	2074310	G	A	G2074310A	TSC2	NM_000548.5(TSC2):c.2466G>A:p.Ala822=	coding	Benign/Likely_benign
16	2074316	T	C	T2074316C	TSC2	NM_000548.5(TSC2):c.2472T>C:p.Pro824=	coding	Benign/Likely_benign
16	2074328	G	A	G2074328A	TSC2	NM_000548.5(TSC2):c.2484G>A:p.Val828=	coding	Benign/Likely_benign
16	2074334	C	T	C2074334T	TSC2	NM_000548.5(TSC2):c.2490C>T:p.Leu830=	coding	Benign/Likely_benign
16	2074337	G	A	G2074337A	TSC2	NM_000548.5(TSC2):c.2493G>A:p.Thr831=	coding	Benign/Likely_benign
16	2074364	C	G	C2074364G	TSC2	NM_000548.5(TSC2):c.2520C>G:p.Ala840=	coding	Benign/Likely_benign
16	2074370	A	G	A2074370G	TSC2	NM_000548.5(TSC2):c.2526A>G:p.Pro842=	coding	Benign/Likely_benign
16	2074398	C	G	C2074398G	TSC2	NM_000548.5(TSC2):c.2545+9C>G	noncoding	Benign/Likely_benign
16	2074583	A	G	A2074583G	TSC2	NM_000548.5(TSC2):c.2545+194A>G	noncoding	Benign
16	2074629	C	T	C2074629T	TSC2	NM_000548.5(TSC2):c.2545+240C>T	noncoding	Benign
16	2075793	C	T	C2075793T	TSC2	NM_000548.5(TSC2):c.2546-6C>T	noncoding	Benign/Likely_benign
16	2075794	C	G	C2075794G	TSC2	NM_000548.5(TSC2):c.2546-5C>G	noncoding	Benign
16	2075800	T	C	T2075800C	TSC2	NM_000548.5(TSC2):c.2547T>C:p.Thr849=	coding	Benign/Likely_benign
16	2075806	C	T	C2075806T	TSC2	NM_000548.5(TSC2):c.2553C>T:p.Ala851=	coding	Benign/Likely_benign
16	2075807	A	C	A2075807C	TSC2	NM_000548.5(TSC2):c.2554A>C:p.Arg852=	coding	Benign/Likely_benign
16	2075821	C	G	C2075821G	TSC2	NM_000548.5(TSC2):c.2568C>G:p.Leu856=	coding	Benign/Likely_benign
16	2075854	T	C	T2075854C	TSC2	NM_000548.5(TSC2):c.2601T>C:p.Ser867=	coding	Benign/Likely_benign
16	2075860	C	T	C2075860T	TSC2	NM_000548.5(TSC2):c.2607C>T:p.Phe869=	coding	Benign/Likely_benign
16	2075863	C	T	C2075863T	TSC2	NM_000548.5(TSC2):c.2610C>T:p.Ala870=	coding	Benign/Likely_benign
16	2075884	C	T	C2075884T	TSC2	NM_000548.5(TSC2):c.2631C>T:p.Asn877=	coding	Benign/Likely_benign
16	2076075	C	T	C2076075T	TSC2	NM_000548.5(TSC2):c.2647C>T:p.Gln883Ter	coding	Pathogenic/Likely_pathogenic
16	2076083	C	T	C2076083T	TSC2	NM_000548.5(TSC2):c.2655C>T:p.Ile885=	coding	Benign/Likely_benign
16	2076086	G	A	G2076086A	TSC2	NM_000548.5(TSC2):c.2658G>A:p.Val886=	coding	Benign/Likely_benign
16	2076094	C	T	C2076094T	TSC2	NM_000548.5(TSC2):c.2666C>T:p.Ala889Val	coding	Pathogenic/Likely_pathogenic
16	2076095	C	T	C2076095T	TSC2	NM_000548.5(TSC2):c.2667C>T:p.Ala889=	coding	Benign/Likely_benign
16	2076127	G	A	G2076127A	TSC2	NM_000548.5(TSC2):c.2699G>A:p.Cys900Tyr	coding	Pathogenic
16	2076161	C	T	C2076161T	TSC2	NM_000548.5(TSC2):c.2733C>T:p.Phe911=	coding	Benign/Likely_benign
16	2076173	G	A	G2076173A	TSC2	NM_000548.5(TSC2):c.2742+3G>A	noncoding	Benign/Likely_benign
16	2076175	G	A	G2076175A	TSC2	NM_000548.5(TSC2):c.2742+5G>A	noncoding	Pathogenic
16	2076183	C	T	C2076183T	TSC2	NM_000548.5(TSC2):c.2742+13C>T	noncoding	Benign/Likely_benign
16	2076481	A	G	A2076481G	TSC2	NM_000548.5(TSC2):c.2743-10A>G	noncoding	Benign/Likely_benign
16	2076496	G	A	G2076496A	TSC2	NM_000548.5(TSC2):c.2748G>A:p.Leu916=	coding	Benign/Likely_benign
16	2076499	G	A	G2076499A	TSC2	NM_000548.5(TSC2):c.2751G>A:p.Arg917=	coding	Benign/Likely_benign
16	2076509	C	G	C2076509G	TSC2	NM_000548.5(TSC2):c.2761C>G:p.Leu921Val	coding	Benign/Likely_benign
16	2076511	C	T	C2076511T	TSC2	NM_000548.5(TSC2):c.2763C>T:p.Leu921=	coding	Benign/Likely_benign
16	2076514	G	A	G2076514A	TSC2	NM_000548.5(TSC2):c.2766G>A:p.Leu922=	coding	Benign/Likely_benign
16	2076568	C	G	C2076568G	TSC2	NM_000548.5(TSC2):c.2820C>G:p.Leu940=	coding	Benign/Likely_benign
16	2076805	C	T	C2076805T	TSC2	NM_000548.5(TSC2):c.2837+220C>T	noncoding	Benign
16	2077604	G	A	G2077604A	TSC2	NM_000548.5(TSC2):c.2844G>A:p.Arg948=	coding	Benign/Likely_benign
16	2077619	C	T	C2077619T	TSC2	NM_000548.5(TSC2):c.2859C>T:p.Pro953=	coding	Benign/Likely_benign
16	2077646	C	T	C2077646T	TSC2	NM_000548.5(TSC2):c.2886C>T:p.Pro962=	coding	Benign/Likely_benign
16	2077676	C	A	C2077676A	TSC2	NM_000548.5(TSC2):c.2916C>A:p.Ala972=	coding	Benign/Likely_benign
16	2077676	C	T	C2077676T	TSC2	NM_000548.5(TSC2):c.2916C>T:p.Ala972=	coding	Benign/Likely_benign
16	2077686	C	A	C2077686A	TSC2	NM_000548.5(TSC2):c.2926C>A:p.Arg976=	coding	Benign/Likely_benign
16	2077686	C	T	C2077686T	TSC2	NM_000548.5(TSC2):c.2926C>T:p.Arg976Trp	coding	Benign/Likely_benign
16	2077745	G	T	G2077745T	TSC2	NM_000548.5(TSC2):c.2966+19G>T	noncoding	Benign/Likely_benign
16	2077746	G	T	G2077746T	TSC2	NM_000548.5(TSC2):c.2966+20G>T	noncoding	Benign/Likely_benign
16	2079019	C	T	C2079019T	TSC2	NM_000548.5(TSC2):c.2967-13C>T	noncoding	Benign
16	2079039	C	T	C2079039T	TSC2	NM_000548.5(TSC2):c.2974C>T:p.Gln992Ter	coding	Pathogenic
16	2079050	C	T	C2079050T	TSC2	NM_000548.5(TSC2):c.2985C>T:p.Leu995=	coding	Benign/Likely_benign
16	2079063	T	C	T2079063C	TSC2	NM_000548.5(TSC2):c.2998T>C:p.Leu1000=	coding	Benign/Likely_benign
16	2079086	C	T	C2079086T	TSC2	NM_000548.5(TSC2):c.3021C>T:p.Ser1007=	coding	Benign/Likely_benign
16	2079095	G	A	G2079095A	TSC2	NM_000548.5(TSC2):c.3030G>A:p.Gln1010=	coding	Benign/Likely_benign
16	2079104	T	C	T2079104C	TSC2	NM_000548.5(TSC2):c.3039T>C:p.Asp1013=	coding	Benign/Likely_benign
16	2079122	C	T	C2079122T	TSC2	NM_000548.5(TSC2):c.3057C>T:p.His1019=	coding	Benign/Likely_benign
16	2079153	A	G	A2079153G	TSC2	NM_000548.5(TSC2):c.3088A>G:p.Met1030Val	coding	Benign/Likely_benign
16	2079182	G	A	G2079182A	TSC2	NM_000548.5(TSC2):c.3117G>A:p.Thr1039=	coding	Benign/Likely_benign
16	2079196	G	A	G2079196A	TSC2	NM_000548.5(TSC2):c.3131G>A:p.Arg1044Lys	coding	Pathogenic
16	2079196	G	C	G2079196C	TSC2	NM_000548.5(TSC2):c.3131G>C:p.Arg1044Thr	coding	Pathogenic
16	2079204	C	T	C2079204T	TSC2	NM_000548.5(TSC2):c.3131+8C>T	noncoding	Benign/Likely_benign
16	2079230	C	T	C2079230T	TSC2	NM_000548.5(TSC2):c.3131+34C>T	noncoding	Benign
16	2079274	A	G	A2079274G	TSC2	NM_000548.5(TSC2):c.3132-2A>G	noncoding	Pathogenic
16	2079315	C	G	C2079315G	TSC2	NM_000548.5(TSC2):c.3171C>G:p.Thr1057=	coding	Benign/Likely_benign
16	2079321	C	T	C2079321T	TSC2	NM_000548.5(TSC2):c.3177C>T:p.Thr1059=	coding	Benign/Likely_benign
16	2079347	C	T	C2079347T	TSC2	NM_000548.5(TSC2):c.3203C>T:p.Thr1068Ile	coding	Pathogenic
16	2079354	G	C	G2079354C	TSC2	NM_000548.5(TSC2):c.3210G>C:p.Thr1070=	coding	Benign/Likely_benign
16	2079354	G	T	G2079354T	TSC2	NM_000548.5(TSC2):c.3210G>T:p.Thr1070=	coding	Benign/Likely_benign
16	2079381	G	A	G2079381A	TSC2	NM_000548.5(TSC2):c.3237G>A:p.Ser1079=	coding	Benign/Likely_benign
16	2079384	A	G	A2079384G	TSC2	NM_000548.5(TSC2):c.3240A>G:p.Leu1080=	coding	Benign/Likely_benign
16	2079385	C	T	C2079385T	TSC2	NM_000548.5(TSC2):c.3241C>T:p.Leu1081=	coding	Benign/Likely_benign
16	2079398	C	A	C2079398A	TSC2	NM_000548.5(TSC2):c.3254C>A:p.Ser1085Ter	coding	Pathogenic
16	2079399	G	A	G2079399A	TSC2	NM_000548.5(TSC2):c.3255G>A:p.Ser1085=	coding	Benign/Likely_benign
16	2079420	G	C	G2079420C	TSC2	NM_000548.5(TSC2):c.3276G>C:p.Pro1092=	coding	Benign/Likely_benign
16	2079426	G	A	G2079426A	TSC2	NM_000548.5(TSC2):c.3282G>A:p.Ser1094=	coding	Benign/Likely_benign
16	2079538	C	T	C2079538T	TSC2	NM_000548.5(TSC2):c.3285-19C>T	noncoding	Benign/Likely_benign
16	2079588	A	T	A2079588T	TSC2	NM_000548.5(TSC2):c.3316A>T:p.Lys1106Ter	coding	Pathogenic
16	2079590	G	A	G2079590A	TSC2	NM_000548.5(TSC2):c.3318G>A:p.Lys1106=	coding	Benign/Likely_benign
16	2079596	G	A	G2079596A	TSC2	NM_000548.5(TSC2):c.3324G>A:p.Ala1108=	coding	Benign/Likely_benign
16	2079602	C	G	C2079602G	TSC2	NM_000548.5(TSC2):c.3330C>G:p.Ala1110=	coding	Benign/Likely_benign
16	2079606	C	T	C2079606T	TSC2	NM_000548.5(TSC2):c.3334C>T:p.Leu1112=	coding	Benign/Likely_benign
16	2079624	C	T	C2079624T	TSC2	NM_000548.5(TSC2):c.3352C>T:p.Gln1118Ter	coding	Pathogenic
16	2079636	C	T	C2079636T	TSC2	NM_000548.5(TSC2):c.3364C>T:p.Arg1122Cys	coding	Benign/Likely_benign
16	2079649	A	T	A2079649T	TSC2	NM_000548.5(TSC2):c.3377A>T:p.Asp1126Val	coding	Benign/Likely_benign
16	2079651	C	T	C2079651T	TSC2	NM_000548.5(TSC2):c.3379C>T:p.Arg1127Trp	coding	Benign/Likely_benign
16	2079653	G	A	G2079653A	TSC2	NM_000548.5(TSC2):c.3381G>A:p.Arg1127=	coding	Benign/Likely_benign
16	2079662	C	T	C2079662T	TSC2	NM_000548.5(TSC2):c.3390C>T:p.Ser1130=	coding	Benign/Likely_benign
16	2079668	G	A	G2079668A	TSC2	NM_000548.5(TSC2):c.3396G>A:p.Ser1132=	coding	Benign/Likely_benign
16	2080164	G	A	G2080164A	TSC2	NM_000548.5(TSC2):c.3398-1G>A	noncoding	Pathogenic
16	2080178	T	G	T2080178G	TSC2	NM_000548.5(TSC2):c.3411T>G:p.Leu1137=	coding	Benign/Likely_benign
16	2080201	C	T	C2080201T	TSC2	NM_000548.5(TSC2):c.3434C>T:p.Pro1145Leu	coding	Benign/Likely_benign
16	2080226	C	G	C2080226G	TSC2	NM_000548.5(TSC2):c.3459C>G:p.Ala1153=	coding	Benign/Likely_benign
16	2080256	C	T	C2080256T	TSC2	NM_000548.5(TSC2):c.3489C>T:p.Ala1163=	coding	Benign/Likely_benign
16	2080276	C	T	C2080276T	TSC2	NM_000548.5(TSC2):c.3509C>T:p.Ser1170Leu	coding	Benign
16	2080286	C	T	C2080286T	TSC2	NM_000548.5(TSC2):c.3519C>T:p.Thr1173=	coding	Benign/Likely_benign
16	2080301	G	A	G2080301A	TSC2	NM_000548.5(TSC2):c.3534G>A:p.Gln1178=	coding	Benign/Likely_benign
16	2080310	G	A	G2080310A	TSC2	NM_000548.5(TSC2):c.3543G>A:p.Thr1181=	coding	Benign/Likely_benign
16	2080310	G	C	G2080310C	TSC2	NM_000548.5(TSC2):c.3543G>C:p.Thr1181=	coding	Benign/Likely_benign
16	2080324	A	G	A2080324G	TSC2	NM_000548.5(TSC2):c.3557A>G:p.Tyr1186Cys	coding	Benign/Likely_benign
16	2080341	C	T	C2080341T	TSC2	NM_000548.5(TSC2):c.3574C>T:p.Gln1192Ter	coding	Pathogenic
16	2080349	G	A	G2080349A	TSC2	NM_000548.5(TSC2):c.3582G>A:p.Trp1194Ter	coding	Pathogenic
16	2080367	G	A	G2080367A	TSC2	NM_000548.5(TSC2):c.3600G>A:p.Arg1200=	coding	Benign/Likely_benign
16	2080373	C	T	C2080373T	TSC2	NM_000548.5(TSC2):c.3606C>T:p.Pro1202=	coding	Benign/Likely_benign
16	2080381	C	T	C2080381T	TSC2	NM_000548.5(TSC2):c.3610+4C>T	noncoding	Benign/Likely_benign
16	2081591	G	A	G2081591A	TSC2	NM_000548.5(TSC2):c.3611-4G>A	noncoding	Benign/Likely_benign
16	2081595	G	A	G2081595A	TSC2	NM_000548.5(TSC2):c.3611G>A:p.Gly1204Glu	coding	Pathogenic/Likely_pathogenic
16	2081596	G	A	G2081596A	TSC2	NM_000548.5(TSC2):c.3612G>A:p.Gly1204=	coding	Benign/Likely_benign
16	2081618	C	T	C2081618T	TSC2	NM_000548.5(TSC2):c.3634C>T:p.Leu1212=	coding	Benign/Likely_benign
16	2081623	G	A	G2081623A	TSC2	NM_000548.5(TSC2):c.3639G>A:p.Glu1213=	coding	Benign/Likely_benign
16	2081629	G	A	G2081629A	TSC2	NM_000548.5(TSC2):c.3645G>A:p.Pro1215=	coding	Benign/Likely_benign
16	2081632	C	T	C2081632T	TSC2	NM_000548.5(TSC2):c.3648C>T:p.Leu1216=	coding	Benign/Likely_benign
16	2081650	C	T	C2081650T	TSC2	NM_000548.5(TSC2):c.3666C>T:p.Asp1222=	coding	Benign/Likely_benign
16	2081674	G	A	G2081674A	TSC2	NM_000548.5(TSC2):c.3690G>A:p.Glu1230=	coding	Benign/Likely_benign
16	2081680	T	C	T2081680C	TSC2	NM_000548.5(TSC2):c.3696T>C:p.Ser1232=	coding	Benign/Likely_benign
16	2081701	G	A	G2081701A	TSC2	NM_000548.5(TSC2):c.3717G>A:p.Glu1239=	coding	Benign/Likely_benign
16	2081717	C	A	C2081717A	TSC2	NM_000548.5(TSC2):c.3733C>A:p.Arg1245=	coding	Benign/Likely_benign
16	2081719	G	A	G2081719A	TSC2	NM_000548.5(TSC2):c.3735G>A:p.Arg1245=	coding	Benign/Likely_benign
16	2081729	C	T	C2081729T	TSC2	NM_000548.5(TSC2):c.3745C>T:p.Leu1249=	coding	Benign/Likely_benign
16	2081734	C	T	C2081734T	TSC2	NM_000548.5(TSC2):c.3750C>T:p.Tyr1250=	coding	Benign/Likely_benign
16	2081764	G	A	G2081764A	TSC2	NM_000548.5(TSC2):c.3780G>A:p.Thr1260=	coding	Benign/Likely_benign
16	2081777	C	T	C2081777T	TSC2	NM_000548.5(TSC2):c.3793C>T:p.Pro1265Ser	coding	Benign/Likely_benign
16	2081787	G	A	G2081787A	TSC2	NM_000548.5(TSC2):c.3803G>A:p.Arg1268His	coding	Benign/Likely_benign
16	2081799	G	A	G2081799A	TSC2	NM_000548.5(TSC2):c.3814+1G>A	coding	Pathogenic
16	2081808	A	G	A2081808G	TSC2	NM_000548.5(TSC2):c.3814+10A>G	noncoding	Benign/Likely_benign
16	2082420	C	T	C2082420T	TSC2	NM_000548.5(TSC2):c.3815-16C>T	noncoding	Benign/Likely_benign
16	2082464	C	T	C2082464T	TSC2	NM_000548.5(TSC2):c.3843C>T:p.Ser1281=	coding	Benign/Likely_benign
16	2082509	C	T	C2082509T	TSC2	NM_000548.5(TSC2):c.3883+5C>T	noncoding	Benign/Likely_benign
16	2082730	G	A	G2082730A	TSC2	NM_000548.5(TSC2):c.3883+226G>A	noncoding	Benign
16	2083639	C	G	C2083639G	TSC2	NM_000548.5(TSC2):c.3884-56C>G	noncoding	Benign
16	2083679	G	A	G2083679A	TSC2	NM_000548.5(TSC2):c.3884-16G>A	noncoding	Benign/Likely_benign
16	2083769	G	A	G2083769A	TSC2	NM_000548.5(TSC2):c.3958G>A:p.Val1320Ile	coding	Benign/Likely_benign
16	2083779	C	T	C2083779T	TSC2	NM_000548.5(TSC2):c.3968C>T:p.Ala1323Val	coding	Benign/Likely_benign
16	2083900	C	T	C2083900T	TSC2	NM_000548.5(TSC2):c.4005+84C>T	noncoding	Benign
16	2084239	C	T	C2084239T	TSC2	NM_000548.5(TSC2):c.4017C>T:p.Val1339=	coding	Benign/Likely_benign
16	2084246	C	T	C2084246T	TSC2	NM_000548.5(TSC2):c.4024C>T:p.Gln1342Ter	coding	Pathogenic
16	2084251	G	C	G2084251C	TSC2	NM_000548.5(TSC2):c.4029G>C:p.Glu1343Asp	coding	Benign/Likely_benign
16	2084255	A	T	A2084255T	TSC2	NM_000548.5(TSC2):c.4033A>T:p.Lys1345Ter	coding	Pathogenic
16	2084263	C	T	C2084263T	TSC2	NM_000548.5(TSC2):c.4041C>T:p.Leu1347=	coding	Benign/Likely_benign
16	2084267	G	A	G2084267A	TSC2	NM_000548.5(TSC2):c.4045G>A:p.Ala1349Thr	coding	Benign/Likely_benign
16	2084278	G	C	G2084278C	TSC2	NM_000548.5(TSC2):c.4056G>C:p.Leu1352=	coding	Benign/Likely_benign
16	2084302	G	A	G2084302A	TSC2	NM_000548.5(TSC2):c.4080G>A:p.Glu1360=	coding	Benign/Likely_benign
16	2084311	C	T	C2084311T	TSC2	NM_000548.5(TSC2):c.4089C>T:p.Val1363=	coding	Benign/Likely_benign
16	2084327	C	A	C2084327A	TSC2	NM_000548.5(TSC2):c.4105C>A:p.Arg1369=	coding	Benign/Likely_benign
16	2084347	C	G	C2084347G	TSC2	NM_000548.5(TSC2):c.4125C>G:p.Ser1375=	coding	Benign/Likely_benign
16	2084351	C	T	C2084351T	TSC2	NM_000548.5(TSC2):c.4129C>T:p.Gln1377Ter	coding	Pathogenic
16	2084356	C	G	C2084356G	TSC2	NM_000548.5(TSC2):c.4134C>G:p.Pro1378=	coding	Benign/Likely_benign
16	2084359	G	T	G2084359T	TSC2	NM_000548.5(TSC2):c.4137G>T:p.Ser1379=	coding	Benign/Likely_benign
16	2084365	C	T	C2084365T	TSC2	NM_000548.5(TSC2):c.4143C>T:p.Pro1381=	coding	Benign/Likely_benign
16	2084377	C	G	C2084377G	TSC2	NM_000548.5(TSC2):c.4155C>G:p.Ser1385=	coding	Benign/Likely_benign
16	2084377	C	T	C2084377T	TSC2	NM_000548.5(TSC2):c.4155C>T:p.Ser1385=	coding	Benign/Likely_benign
16	2084389	C	T	C2084389T	TSC2	NM_000548.5(TSC2):c.4167C>T:p.Pro1389=	coding	Benign/Likely_benign
16	2084392	G	A	G2084392A	TSC2	NM_000548.5(TSC2):c.4170G>A:p.Glu1390=	coding	Benign/Likely_benign
16	2084402	C	T	C2084402T	TSC2	NM_000548.5(TSC2):c.4180C>T:p.Leu1394=	coding	Benign/Likely_benign
16	2084416	C	T	C2084416T	TSC2	NM_000548.5(TSC2):c.4194C>T:p.Leu1398=	coding	Benign/Likely_benign
16	2084448	G	A	G2084448A	TSC2	NM_000548.5(TSC2):c.4226G>A:p.Arg1409Gln	coding	Benign/Likely_benign
16	2084545	C	T	C2084545T	TSC2	NM_000548.5(TSC2):c.4323C>T:p.Pro1441=	coding	Benign/Likely_benign
16	2084554	C	T	C2084554T	TSC2	NM_000548.5(TSC2):c.4332C>T:p.Pro1444=	coding	Benign/Likely_benign
16	2084563	C	T	C2084563T	TSC2	NM_000548.5(TSC2):c.4341C>T:p.Ser1447=	coding	Benign/Likely_benign
16	2084574	G	A	G2084574A	TSC2	NM_000548.5(TSC2):c.4352G>A:p.Arg1451His	coding	Benign/Likely_benign
16	2084577	C	A	C2084577A	TSC2	NM_000548.5(TSC2):c.4355C>A:p.Ser1452Ter	coding	Pathogenic
16	2084587	C	T	C2084587T	TSC2	NM_000548.5(TSC2):c.4365C>T:p.Gly1455=	coding	Benign/Likely_benign
16	2084642	A	C	A2084642C	TSC2	NM_000548.5(TSC2):c.4420A>C:p.Arg1474=	coding	Benign/Likely_benign
16	2084658	C	T	C2084658T	TSC2	NM_000548.5(TSC2):c.4436C>T:p.Ala1479Val	coding	Benign/Likely_benign
16	2084661	T	A	T2084661A	TSC2	NM_000548.5(TSC2):c.4439T>A:p.Leu1480Ter	coding	Pathogenic
16	2084662	A	G	A2084662G	TSC2	NM_000548.5(TSC2):c.4440A>G:p.Leu1480=	coding	Benign/Likely_benign
16	2084663	A	T	A2084663T	TSC2	NM_000548.5(TSC2):c.4441A>T:p.Lys1481Ter	coding	Pathogenic
16	2084668	C	T	C2084668T	TSC2	NM_000548.5(TSC2):c.4446C>T:p.Ser1482=	coding	Benign/Likely_benign
16	2084669	A	G	A2084669G	TSC2	NM_000548.5(TSC2):c.4447A>G:p.Arg1483Gly	coding	Benign/Likely_benign
16	2084670	G	C	G2084670C	TSC2	NM_000548.5(TSC2):c.4448G>C:p.Arg1483Thr	coding	Benign/Likely_benign
16	2084674	C	T	C2084674T	TSC2	NM_000548.5(TSC2):c.4452C>T:p.Ala1484=	coding	Benign/Likely_benign
16	2084683	C	G	C2084683G	TSC2	NM_000548.5(TSC2):c.4461C>G:p.Ser1487=	coding	Benign/Likely_benign
16	2084712	C	G	C2084712G	TSC2	NM_000548.5(TSC2):c.4490C>G:p.Pro1497Arg	coding	Pathogenic
16	2084712	C	T	C2084712T	TSC2	NM_000548.5(TSC2):c.4490C>T:p.Pro1497Leu	coding	Pathogenic
16	2084731	C	G	C2084731G	TSC2	NM_000548.5(TSC2):c.4493+16C>G	noncoding	Benign/Likely_benign
16	2084949	A	G	A2084949G	TSC2	NM_000548.5(TSC2):c.4494-2A>G	noncoding	Pathogenic
16	2084972	C	G	C2084972G	TSC2	NM_000548.5(TSC2):c.4515C>G:p.Tyr1505Ter	coding	Pathogenic
16	2084978	C	T	C2084978T	TSC2	NM_000548.5(TSC2):c.4521C>T:p.Ser1507=	coding	Benign/Likely_benign
16	2085011	C	T	C2085011T	TSC2	NM_000548.5(TSC2):c.4554C>T:p.Ile1518=	coding	Benign/Likely_benign
16	2085014	G	T	G2085014T	TSC2	NM_000548.5(TSC2):c.4557G>T:p.Leu1519=	coding	Benign/Likely_benign
16	2085017	G	T	G2085017T	TSC2	NM_000548.5(TSC2):c.4560G>T:p.Leu1520=	coding	Benign/Likely_benign
16	2085020	C	T	C2085020T	TSC2	NM_000548.5(TSC2):c.4563C>T:p.Pro1521=	coding	Benign/Likely_benign
16	2085239	T	C	T2085239C	TSC2	NM_000548.5(TSC2):c.4579T>C:p.Phe1527Leu	coding	Benign/Likely_benign
16	2085249	C	A	C2085249A	TSC2	NM_000548.5(TSC2):c.4589C>A:p.Ser1530Ter	coding	Pathogenic
16	2085259	C	T	C2085259T	TSC2	NM_000548.5(TSC2):c.4599C>T:p.Leu1533=	coding	Benign/Likely_benign
16	2085265	C	T	C2085265T	TSC2	NM_000548.5(TSC2):c.4605C>T:p.Asp1535=	coding	Benign/Likely_benign
16	2085295	C	T	C2085295T	TSC2	NM_000548.5(TSC2):c.4635C>T:p.Ile1545=	coding	Benign/Likely_benign
16	2085299	G	A	G2085299A	TSC2	NM_000548.5(TSC2):c.4639G>A:p.Val1547Ile	coding	Benign/Likely_benign
16	2085307	T	C	T2085307C	TSC2	NM_000548.5(TSC2):c.4647T>C:p.Tyr1549=	coding	Benign/Likely_benign
16	2085339	G	A	G2085339A	TSC2	NM_000548.5(TSC2):c.4662+17G>A	noncoding	Benign/Likely_benign
16	2085340	G	A	G2085340A	TSC2	NM_000548.5(TSC2):c.4662+18G>A	noncoding	Benign/Likely_benign
16	2086191	A	G	A2086191G	TSC2	NM_000548.5(TSC2):c.4663-2A>G	noncoding	Pathogenic
16	2086214	C	T	C2086214T	TSC2	NM_000548.5(TSC2):c.4684C>T:p.Leu1562=	coding	Benign/Likely_benign
16	2086231	C	G	C2086231G	TSC2	NM_000548.5(TSC2):c.4701C>G:p.Gly1567=	coding	Benign/Likely_benign
16	2086237	C	T	C2086237T	TSC2	NM_000548.5(TSC2):c.4707C>T:p.Tyr1569=	coding	Benign/Likely_benign
16	2086258	G	A	G2086258A	TSC2	NM_000548.5(TSC2):c.4728G>A:p.Thr1576=	coding	Benign/Likely_benign
16	2086258	G	C	G2086258C	TSC2	NM_000548.5(TSC2):c.4728G>C:p.Thr1576=	coding	Benign/Likely_benign
16	2086263	T	C	T2086263C	TSC2	NM_000548.5(TSC2):c.4733T>C:p.Leu1578Pro	coding	Pathogenic
16	2086270	G	T	G2086270T	TSC2	NM_000548.5(TSC2):c.4740G>T:p.Arg1580=	coding	Benign/Likely_benign
16	2086309	C	T	C2086309T	TSC2	NM_000548.5(TSC2):c.4779C>T:p.Tyr1593=	coding	Benign/Likely_benign
16	2086310	C	T	C2086310T	TSC2	NM_000548.5(TSC2):c.4780C>T:p.Leu1594=	coding	Benign/Likely_benign
16	2086333	T	G	T2086333G	TSC2	NM_000548.5(TSC2):c.4803T>G:p.Gly1601=	coding	Benign/Likely_benign
16	2086342	C	A	C2086342A	TSC2	NM_000548.5(TSC2):c.4812C>A:p.Gly1604=	coding	Benign/Likely_benign
16	2086357	C	A	C2086357A	TSC2	NM_000548.5(TSC2):c.4827C>A:p.Cys1609Ter	coding	Pathogenic
16	2086363	C	T	C2086363T	TSC2	NM_000548.5(TSC2):c.4833C>T:p.His1611=	coding	Benign/Likely_benign
16	2086369	C	T	C2086369T	TSC2	NM_000548.5(TSC2):c.4839C>T:p.Asp1613=	coding	Benign/Likely_benign
16	2086380	G	A	G2086380A	TSC2	NM_000548.5(TSC2):c.4849+1G>A	coding	Pathogenic
16	2086380	G	T	G2086380T	TSC2	NM_000548.5(TSC2):c.4849+1G>T	coding	Pathogenic
16	2086384	G	A	G2086384A	TSC2	NM_000548.5(TSC2):c.4849+5G>A	noncoding	Benign/Likely_benign
16	2086399	C	G	C2086399G	TSC2	NM_000548.5(TSC2):c.4849+20C>G	noncoding	Benign
16	2086724	A	G	A2086724G	TSC2	NM_000548.5(TSC2):c.4850-8A>G	noncoding	Benign/Likely_benign
16	2086736	C	T	C2086736T	TSC2	NM_000548.5(TSC2):c.4854C>T:p.Val1618=	coding	Benign/Likely_benign
16	2086739	C	T	C2086739T	TSC2	NM_000548.5(TSC2):c.4857C>T:p.Phe1619=	coding	Benign/Likely_benign
16	2086740	C	T	C2086740T	TSC2	NM_000548.5(TSC2):c.4858C>T:p.His1620Tyr	coding	Pathogenic
16	2086752	C	T	C2086752T	TSC2	NM_000548.5(TSC2):c.4870C>T:p.Leu1624=	coding	Benign/Likely_benign
16	2086796	G	A	G2086796A	TSC2	NM_000548.5(TSC2):c.4914G>A:p.Lys1638=	coding	Benign/Likely_benign
16	2086812	G	T	G2086812T	TSC2	NM_000548.5(TSC2):c.4930G>T:p.Asp1644Tyr	coding	Pathogenic
16	2086825	T	C	T2086825C	TSC2	NM_000548.5(TSC2):c.4943T>C:p.Ile1648Thr	coding	Pathogenic
16	2086829	C	G	C2086829G	TSC2	NM_000548.5(TSC2):c.4947C>G:p.Val1649=	coding	Benign/Likely_benign
16	2086832	C	G	C2086832G	TSC2	NM_000548.5(TSC2):c.4950C>G:p.Tyr1650Ter	coding	Pathogenic
16	2086838	C	T	C2086838T	TSC2	NM_000548.5(TSC2):c.4956C>T:p.Asp1652=	coding	Benign/Likely_benign
16	2086853	C	T	C2086853T	TSC2	NM_000548.5(TSC2):c.4971C>T:p.Phe1657=	coding	Benign/Likely_benign
16	2086886	G	A	G2086886A	TSC2	NM_000548.5(TSC2):c.4989+15G>A	noncoding	Benign/Likely_benign
16	2086891	T	A	T2086891A	TSC2	NM_000548.5(TSC2):c.4989+20T>A	noncoding	Benign
16	2087877	T	C	T2087877C	TSC2	NM_000548.5(TSC2):c.5004T>C:p.Phe1668=	coding	Benign/Likely_benign
16	2087895	C	T	C2087895T	TSC2	NM_000548.5(TSC2):c.5022C>T:p.Thr1674=	coding	Benign/Likely_benign
16	2087910	G	A	G2087910A	TSC2	NM_000548.5(TSC2):c.5037G>A:p.Glu1679=	coding	Benign/Likely_benign
16	2087921	T	G	T2087921G	TSC2	NM_000548.5(TSC2):c.5048T>G:p.Val1683Gly	coding	Pathogenic
16	2087922	G	A	G2087922A	TSC2	NM_000548.5(TSC2):c.5049G>A:p.Val1683=	coding	Benign/Likely_benign
16	2087931	G	A	G2087931A	TSC2	NM_000548.5(TSC2):c.5058G>A:p.Gln1686=	coding	Benign/Likely_benign
16	2087934	C	T	C2087934T	TSC2	NM_000548.5(TSC2):c.5061C>T:p.Cys1687=	coding	Benign/Likely_benign
16	2087937	G	A	G2087937A	TSC2	NM_000548.5(TSC2):c.5064G>A:p.Arg1688=	coding	Benign/Likely_benign
16	2088047	G	C	G2088047C	TSC2	NM_000548.5(TSC2):c.5069-1G>C	noncoding	Pathogenic
16	2088070	C	T	C2088070T	TSC2	NM_000548.5(TSC2):c.5091C>T:p.Thr1697=	coding	Benign/Likely_benign
16	2088088	G	C	G2088088C	TSC2	NM_000548.5(TSC2):c.5109G>C:p.Val1703=	coding	Benign/Likely_benign
16	2088091	T	A	T2088091A	TSC2	NM_000548.5(TSC2):c.5112T>A:p.Ser1704=	coding	Benign/Likely_benign
16	2088101	C	T	C2088101T	TSC2	NM_000548.5(TSC2):c.5122C>T:p.Leu1708=	coding	Benign/Likely_benign
16	2088146	G	C	G2088146C	TSC2	NM_000548.5(TSC2):c.5160+7G>C	noncoding	Benign/Likely_benign
16	2088207	C	T	C2088207T	TSC2	NM_000548.5(TSC2):c.5161-20C>T	noncoding	Benign/Likely_benign
16	2088223	C	G	C2088223G	TSC2	NM_000548.5(TSC2):c.5161-4C>G	noncoding	Benign/Likely_benign
16	2088241	G	A	G2088241A	TSC2	NM_000548.5(TSC2):c.5175G>A:p.Val1725=	coding	Benign/Likely_benign
16	2088262	C	T	C2088262T	TSC2	NM_000548.5(TSC2):c.5196C>T:p.Pro1732=	coding	Benign/Likely_benign
16	2088271	C	T	C2088271T	TSC2	NM_000548.5(TSC2):c.5205C>T:p.Ile1735=	coding	Benign/Likely_benign
16	2088274	C	A	C2088274A	TSC2	NM_000548.5(TSC2):c.5208C>A:p.Tyr1736Ter	coding	Pathogenic
16	2088275	C	T	C2088275T	TSC2	NM_000548.5(TSC2):c.5209C>T:p.Pro1737Ser	coding	Benign/Likely_benign
16	2088277	C	A	C2088277A	TSC2	NM_000548.5(TSC2):c.5211C>A:p.Pro1737=	coding	Benign/Likely_benign
16	2088277	C	T	C2088277T	TSC2	NM_000548.5(TSC2):c.5211C>T:p.Pro1737=	coding	Benign/Likely_benign
16	2088298	C	T	C2088298T	TSC2	NM_000548.5(TSC2):c.5232C>T:p.Leu1744=	coding	Benign/Likely_benign
16	2088316	C	A	C2088316A	TSC2	NM_000548.5(TSC2):c.5250C>A:p.Leu1750=	coding	Benign/Likely_benign
16	2088334	T	C	T2088334C	TSC2	NM_000548.5(TSC2):c.5259+9T>C	noncoding	Benign/Likely_benign
16	2088448	C	A	C2088448A	TSC2	NM_000548.5(TSC2):c.5262C>A:p.Ile1754=	coding	Benign/Likely_benign
16	2088462	C	T	C2088462T	TSC2	NM_000548.5(TSC2):c.5276C>T:p.Ala1759Val	coding	Benign/Likely_benign
16	2088472	C	T	C2088472T	TSC2	NM_000548.5(TSC2):c.5286C>T:p.Asn1762=	coding	Benign/Likely_benign
16	2088493	C	T	C2088493T	TSC2	NM_000548.5(TSC2):c.5307C>T:p.His1769=	coding	Benign/Likely_benign
16	2088498	C	T	C2088498T	TSC2	NM_000548.5(TSC2):c.5312C>T:p.Pro1771Leu	coding	Benign/Likely_benign
16	2088502	C	G	C2088502G	TSC2	NM_000548.5(TSC2):c.5316C>G:p.Ser1772=	coding	Benign/Likely_benign
16	2088508	C	T	C2088508T	TSC2	NM_000548.5(TSC2):c.5322C>T:p.Ser1774=	coding	Benign/Likely_benign
16	2088517	T	C	T2088517C	TSC2	NM_000548.5(TSC2):c.5331T>C:p.Pro1777=	coding	Benign/Likely_benign
16	2088523	G	A	G2088523A	TSC2	NM_000548.5(TSC2):c.5337G>A:p.Gln1779=	coding	Benign/Likely_benign
16	2088525	C	T	C2088525T	TSC2	NM_000548.5(TSC2):c.5339C>T:p.Thr1780Ile	coding	Benign/Likely_benign
16	2088541	A	G	A2088541G	TSC2	NM_000548.5(TSC2):c.5355A>G:p.Thr1785=	coding	Benign/Likely_benign
16	2088547	C	A	C2088547A	TSC2	NM_000548.5(TSC2):c.5361C>A:p.Gly1787=	coding	Benign/Likely_benign
16	2088550	T	C	T2088550C	TSC2	NM_000548.5(TSC2):c.5364T>C:p.Tyr1788=	coding	Benign/Likely_benign
16	2088556	G	C	G2088556C	TSC2	NM_000548.5(TSC2):c.5370G>C:p.Val1790=	coding	Benign/Likely_benign
16	2088559	C	G	C2088559G	TSC2	NM_000548.5(TSC2):c.5373C>G:p.Gly1791=	coding	Benign/Likely_benign
16	2088564	G	A	G2088564A	TSC2	NM_000548.5(TSC2):c.5378G>A:p.Arg1793Gln	coding	Benign/Likely_benign
16	2088569	C	T	C2088569T	TSC2	NM_000548.5(TSC2):c.5383C>T:p.Arg1795Cys	coding	Benign/Likely_benign
16	2088595	C	T	C2088595T	TSC2	NM_000548.5(TSC2):c.5409C>T:p.Phe1803=	coding	Benign/Likely_benign
16	2088866	C	T	C2088866T	TSC2	NM_000548.5(TSC2):c.*256C>T	noncoding	Benign
16	2088868	C	T	C2088868T	TSC2	NM_000548.5(TSC2):c.*258C>T	noncoding	Benign
16	2089918	G	A	G2089918A	PKD1	NM_001009944.3(PKD1):c.12721C>T:p.Gln4241Ter	coding	Pathogenic/Likely_pathogenic
16	2089928	G	C	G2089928C	PKD1	NM_001009944.3(PKD1):c.12711C>G:p.Tyr4237Ter	coding	Pathogenic
16	2089975	G	A	G2089975A	PKD1	NM_001009944.3(PKD1):c.12664C>T:p.Leu4222=	coding	Benign/Likely_benign
16	2089981	C	A	C2089981A	PKD1	NM_001009944.3(PKD1):c.12658G>T:p.Glu4220Ter	coding	Pathogenic
16	2090356	G	A	G2090356A	PKD1	NM_001009944.3(PKD1):c.12373C>T:p.Gln4125Ter	coding	Pathogenic
16	2090531	G	A	G2090531A	PKD1	NM_001009944.3(PKD1):c.12198C>T:p.Cys4066=	coding	Benign/Likely_benign
16	2090551	G	A	G2090551A	PKD1	NM_001009944.3(PKD1):c.12178C>T:p.Gln4060Ter	coding	Pathogenic
16	2090562	C	T	C2090562T	PKD1	NM_001009944.3(PKD1):c.12167G>A:p.Trp4056Ter	coding	Pathogenic
16	2090673	C	G	C2090673G	PKD1	NM_001009944.3(PKD1):c.12138+1G>C	noncoding	Pathogenic
16	2090998	C	T	C2090998T	PKD1	NM_001009944.3(PKD1):c.11889G>A:p.Trp3963Ter	coding	Pathogenic
16	2091003	G	A	G2091003A	PKD1	NM_001009944.3(PKD1):c.11884C>T:p.Gln3962Ter	coding	Pathogenic
16	2091024	G	A	G2091024A	PKD1	NM_001009944.3(PKD1):c.11863C>T:p.Gln3955Ter	coding	Pathogenic
16	2091103	C	T	C2091103T	PKD1	NM_001009944.3(PKD1):c.11784G>A:p.Trp3928Ter	coding	Pathogenic
16	2091121	C	T	C2091121T	PKD1	NM_001009944.3(PKD1):c.11766G>A:p.Trp3922Ter	coding	Pathogenic
16	2091164	A	G	A2091164G	PKD1	NM_001009944.3(PKD1):c.11723T>C:p.Leu3908Pro	coding	Pathogenic
16	2091421	A	G	A2091421G	PKD1	NM_001009944.3(PKD1):c.11712+2T>C	noncoding	Pathogenic
16	2091483	G	A	G2091483A	PKD1	NM_001009944.3(PKD1):c.11652C>T:p.Ser3884=	coding	Benign
16	2091519	C	T	C2091519T	PKD1	NM_001009944.3(PKD1):c.11616G>A:p.Glu3872=	coding	Benign
16	2091578	C	A	C2091578A	PKD1	NM_001009944.3(PKD1):c.11557G>T:p.Glu3853Ter	coding	Pathogenic
16	2091764	G	A	G2091764A	PKD1-AS1;PKD1	NM_001009944.3(PKD1):c.11537+17C>T	noncoding	Benign
16	2091913	G	A	G2091913A	PKD1;PKD1-AS1	NM_001009944.3(PKD1):c.11412-7C>T	noncoding	Benign
16	2092029	G	A	G2092029A	PKD1;PKD1-AS1	NM_001009944.3(PKD1):c.11411+18C>T	noncoding	Benign
16	2092070	G	C	G2092070C	PKD1	NM_001009944.3(PKD1):c.11388C>G:p.Ala3796=	coding	Benign/Likely_benign
16	2092074	C	T	C2092074T	PKD1	NM_001009944.3(PKD1):c.11384G>A:p.Trp3795Ter	coding	Pathogenic
16	2092189	C	T	C2092189T	PKD1	NM_001009944.3(PKD1):c.11270-1G>A	coding	Pathogenic
16	2092486	G	A	G2092486A	PKD1;PKD1-AS1	NM_001009944.3(PKD1):c.11263C>T:p.Gln3755Ter	coding	Pathogenic
16	2092571	C	T	C2092571T	PKD1	NM_001009944.3(PKD1):c.11178G>A:p.Trp3726Ter	coding	Pathogenic
16	2092593	C	T	C2092593T	PKD1	NM_001009944.3(PKD1):c.11157-1G>A	coding	Pathogenic
16	2093543	C	T	C2093543T	PKD1	NM_001009944.3(PKD1):c.11016+1G>A	noncoding	Pathogenic
16	2093739	C	G	C2093739G	PKD1	NM_001009944.3(PKD1):c.10822-1G>C	coding	Pathogenic
16	2093907	C	T	C2093907T	PKD1	NM_001009944.3(PKD1):c.10725G>A:p.Trp3575Ter	coding	Pathogenic
16	2093974	C	T	C2093974T	PKD1	NM_001009944.3(PKD1):c.10658G>A:p.Trp3553Ter	coding	Pathogenic
16	2094179	G	C	G2094179C	PKD1	NM_001009944.3(PKD1):c.10531C>G:p.Leu3511Val	coding	Benign/Likely_benign
16	2097185	G	A	G2097185A	PKD1	NM_001009944.3(PKD1):c.10462C>T:p.Gln3488Ter	coding	Pathogenic
16	2097324	G	A	G2097324A	PKD1	NM_001009944.3(PKD1):c.10400C>T:p.Ala3467Val	coding	Benign/Likely_benign
16	2097398	C	T	C2097398T	PKD1	NM_001009944.3(PKD1):c.10326G>A:p.Ala3442=	coding	Benign
16	2097399	G	A	G2097399A	PKD1	NM_001009944.3(PKD1):c.10325C>T:p.Ala3442Val	coding	Benign/Likely_benign
16	2097418	G	A	G2097418A	PKD1	NM_001009944.3(PKD1):c.10306C>T:p.Gln3436Ter	coding	Pathogenic
16	2097490	G	A	G2097490A	PKD1	NM_001009944.3(PKD1):c.10234C>T:p.Pro3412Ser	coding	Benign/Likely_benign
16	2097780	G	A	G2097780A	PKD1	NM_001009944.3(PKD1):c.10168C>T:p.Gln3390Ter	coding	Pathogenic
16	2097948	G	A	G2097948A	PKD1	NM_001009944.3(PKD1):c.10087C>T:p.Gln3363Ter	coding	Pathogenic
16	2099984	C	T	C2099984T	PKD1	NM_001009944.3(PKD1):c.9800G>A:p.Trp3267Ter	coding	Pathogenic
16	2100187	C	A	C2100187A	PKD1	NM_001009944.3(PKD1):c.9691G>T:p.Glu3231Ter	coding	Pathogenic
16	2100310	C	G	C2100310G	PKD1	NM_001009944.3(PKD1):c.9569-1G>C	coding	Pathogenic
16	2100395	C	A	C2100395A	PKD1	NM_001009944.3(PKD1):c.9568+1G>T	noncoding	Pathogenic
16	2100395	C	G	C2100395G	PKD1	NM_001009944.3(PKD1):c.9568+1G>C	noncoding	Pathogenic
16	2100568	T	C	T2100568C	PKD1	NM_001009944.3(PKD1):c.9398-2A>G	noncoding	Pathogenic
16	2102380	C	T	C2102380T	PKD1	NM_001009944.3(PKD1):c.9201+1G>A	noncoding	Pathogenic
16	2102471	C	T	C2102471T	PKD1	NM_001009944.3(PKD1):c.9111G>A:p.Ser3037=	coding	Benign/Likely_benign
16	2102577	G	T	G2102577T	PKD1	NM_001009944.3(PKD1):c.9005C>A:p.Ser3002Ter	coding	Pathogenic
16	2102837	G	A	G2102837A	PKD1	NM_001009944.3(PKD1):c.8925C>T:p.Pro2975=	coding	Benign
16	2102939	G	C	G2102939C	PKD1	NM_001009944.3(PKD1):c.8823C>G:p.Tyr2941Ter	coding	Pathogenic
16	2103587	G	A	G2103587A	PKD1	NM_001009944.3(PKD1):c.8470C>T:p.Gln2824Ter	coding	Pathogenic
16	2103669	A	C	A2103669C	PKD1	NM_001009944.3(PKD1):c.8388T>G:p.Tyr2796Ter	coding	Pathogenic
16	2103853	T	A	T2103853A	PKD1	NM_001009944.3(PKD1):c.8204A>T:p.Gln2735Leu	coding	Benign/Likely_benign
16	2103857	G	T	G2103857T	PKD1	NM_001009944.3(PKD1):c.8200C>A:p.Pro2734Thr	coding	Benign/Likely_benign
16	2104497	C	A	C2104497A	PKD1	NM_001009944.3(PKD1):c.8161+1G>T	noncoding	Pathogenic
16	2104540	C	T	C2104540T	PKD1	NM_001009944.3(PKD1):c.8119G>A:p.Val2707Met	coding	Benign/Likely_benign
16	2104561	C	T	C2104561T	PKD1	NM_001009944.3(PKD1):c.8098G>A:p.Ala2700Thr	coding	Pathogenic
16	2105354	G	A	G2105354A	PKD1	NM_001009944.3(PKD1):c.7984C>T:p.Gln2662Ter	coding	Pathogenic/Likely_pathogenic
16	2105417	G	A	G2105417A	PKD1	NM_001009944.3(PKD1):c.7921C>T:p.Gln2641Ter	coding	Pathogenic
16	2105472	G	A	G2105472A	PKD1	NM_001009944.3(PKD1):c.7866C>T:p.Tyr2622=	coding	Benign
16	2105475	C	A	C2105475A	PKD1	NM_001009944.3(PKD1):c.7864-1G>T	coding	Pathogenic
16	2105912	G	A	G2105912A	PKD1	NM_001009944.3(PKD1):c.7816C>T:p.Gln2606Ter	coding	Pathogenic
16	2105924	G	A	G2105924A	PKD1	NM_001009944.3(PKD1):c.7804C>T:p.Gln2602Ter	coding	Pathogenic
16	2106239	G	A	G2106239A	PKD1	NM_001009944.3(PKD1):c.7555C>T:p.Gln2519Ter	coding	Pathogenic
16	2106612	G	A	G2106612A	PKD1	NM_001009944.3(PKD1):c.7275C>T:p.Gly2425=	coding	Benign
16	2106894	T	A	T2106894A	PKD1	NM_001009944.3(PKD1):c.7120A>T:p.Lys2374Ter	coding	Pathogenic
16	2107881	A	C	A2107881C	PKD1	NM_001009944.3(PKD1):c.7065+2T>G	noncoding	Pathogenic
16	2107888	G	A	G2107888A	PKD1	NM_001009944.3(PKD1):c.7060C>T:p.Gln2354Ter	coding	Pathogenic
16	2107966	C	A	C2107966A	PKD1	NM_001009944.3(PKD1):c.6982G>T:p.Glu2328Ter	coding	Pathogenic
16	2108251	C	T	C2108251T	PKD1	NM_001009944.3(PKD1):c.6915+1G>A	noncoding	Pathogenic
16	2108296	G	A	G2108296A	PKD1	NM_001009944.3(PKD1):c.6871C>T:p.Gln2291Ter	coding	Pathogenic
16	2108502	G	A	G2108502A	PKD1	NM_001009944.3(PKD1):c.6665C>T:p.Ala2222Val	coding	Benign/Likely_benign
16	2108607	C	T	C2108607T	PKD1	NM_001009944.3(PKD1):c.6560G>A:p.Trp2187Ter	coding	Pathogenic
16	2108612	G	T	G2108612T	PKD1	NM_001009944.3(PKD1):c.6555C>A:p.Tyr2185Ter	coding	Pathogenic
16	2108695	G	A	G2108695A	PKD1	NM_001009944.3(PKD1):c.6472C>T:p.Gln2158Ter	coding	Pathogenic
16	2108743	G	A	G2108743A	PKD1	NM_001009944.3(PKD1):c.6424C>T:p.Gln2142Ter	coding	Pathogenic
16	2108761	G	A	G2108761A	PKD1	NM_001009944.3(PKD1):c.6406C>T:p.Gln2136Ter	coding	Pathogenic
16	2108776	T	G	T2108776G	PKD1	NM_001009944.3(PKD1):c.6391A>C:p.Ser2131Arg	coding	Pathogenic
16	2108885	C	T	C2108885T	PKD1	NM_001009944.3(PKD1):c.6282G>A:p.Trp2094Ter	coding	Pathogenic
16	2108983	G	A	G2108983A	PKD1	NM_001009944.3(PKD1):c.6184C>T:p.Gln2062Ter	coding	Pathogenic
16	2109052	G	A	G2109052A	PKD1	NM_001009944.3(PKD1):c.6115C>T:p.Gln2039Ter	coding	Pathogenic
16	2109127	G	A	G2109127A	PKD1	NM_001009944.3(PKD1):c.6040C>T:p.Gln2014Ter	coding	Pathogenic
16	2109146	G	T	G2109146T	PKD1	NM_001009944.3(PKD1):c.6021C>A:p.Tyr2007Ter	coding	Pathogenic
16	2109244	G	A	G2109244A	PKD1	NM_001009944.3(PKD1):c.5923C>T:p.Gln1975Ter	coding	Pathogenic
16	2109395	G	A	G2109395A	PKD1	NM_001009944.3(PKD1):c.5772C>T:p.Gly1924=	coding	Benign/Likely_benign
16	2109397	C	T	C2109397T	PKD1	NM_001009944.3(PKD1):c.5770G>A:p.Gly1924Ser	coding	Benign/Likely_benign
16	2109445	G	A	G2109445A	PKD1	NM_001009944.3(PKD1):c.5722C>T:p.Gln1908Ter	coding	Pathogenic
16	2109488	C	T	C2109488T	PKD1	NM_001009944.3(PKD1):c.5679G>A:p.Trp1893Ter	coding	Pathogenic
16	2109489	C	T	C2109489T	PKD1	NM_001009944.3(PKD1):c.5678G>A:p.Trp1893Ter	coding	Pathogenic
16	2109530	G	C	G2109530C	PKD1	NM_001009944.3(PKD1):c.5637C>G:p.Tyr1879Ter	coding	Pathogenic
16	2109530	G	T	G2109530T	PKD1	NM_001009944.3(PKD1):c.5637C>A:p.Tyr1879Ter	coding	Pathogenic
16	2109545	C	T	C2109545T	PKD1	NM_001009944.3(PKD1):c.5622G>A:p.Trp1874Ter	coding	Pathogenic
16	2109590	A	G	A2109590G	PKD1	NM_001009944.3(PKD1):c.5577T>C:p.Ala1859=	coding	Benign
16	2109657	C	T	C2109657T	PKD1	NM_001009944.3(PKD1):c.5510G>A:p.Trp1837Ter	coding	Pathogenic
16	2109712	C	A	C2109712A	PKD1	NM_001009944.3(PKD1):c.5455G>T:p.Ala1819Ser	coding	Benign
16	2109772	G	A	G2109772A	PKD1	NM_001009944.3(PKD1):c.5395C>T:p.Gln1799Ter	coding	Pathogenic
16	2109877	C	A	C2109877A	PKD1	NM_001009944.3(PKD1):c.5290G>T:p.Glu1764Ter	coding	Pathogenic
16	2109946	C	A	C2109946A	PKD1	NM_001009944.3(PKD1):c.5221G>T:p.Glu1741Ter	coding	Pathogenic
16	2110008	C	T	C2110008T	PKD1	NM_001009944.3(PKD1):c.5159G>A:p.Trp1720Ter	coding	Pathogenic
16	2110012	C	G	C2110012G	PKD1	NM_001009944.3(PKD1):c.5155G>C:p.Gly1719Arg	coding	Pathogenic
16	2110102	C	A	C2110102A	PKD1	NM_001009944.3(PKD1):c.5065G>T:p.Glu1689Ter	coding	Pathogenic
16	2110161	C	T	C2110161T	PKD1	NM_001009944.3(PKD1):c.5006G>A:p.Trp1669Ter	coding	Pathogenic
16	2110238	G	C	G2110238C	PKD1	NM_001009944.3(PKD1):c.4929C>G:p.Tyr1643Ter	coding	Pathogenic
16	2110311	G	A	G2110311A	PKD1	NM_001009944.3(PKD1):c.4856C>T:p.Ser1619Phe	coding	Benign/Likely_benign
16	2110483	G	A	G2110483A	PKD1	NM_001009944.3(PKD1):c.4684C>T:p.Leu1562=	coding	Benign
16	2110550	C	T	C2110550T	PKD1	NM_001009944.3(PKD1):c.4617G>A:p.Trp1539Ter	coding	Pathogenic
16	2110616	G	C	G2110616C	PKD1	NM_001009944.3(PKD1):c.4551C>G:p.Tyr1517Ter	coding	Pathogenic
16	2110672	G	A	G2110672A	PKD1	NM_001009944.3(PKD1):c.4495C>T:p.Leu1499=	coding	Benign/Likely_benign
16	2110720	G	A	G2110720A	PKD1	NM_001009944.3(PKD1):c.4447C>T:p.Gln1483Ter	coding	Pathogenic/Likely_pathogenic
16	2110773	G	A	G2110773A	PKD1	NM_001009944.3(PKD1):c.4394C>T:p.Pro1465Leu	coding	Pathogenic
16	2110780	G	A	G2110780A	PKD1	NM_001009944.3(PKD1):c.4387C>T:p.Gln1463Ter	coding	Pathogenic
16	2110953	C	T	C2110953T	PKD1	NM_001009944.3(PKD1):c.4214G>A:p.Trp1405Ter	coding	Pathogenic
16	2110970	C	T	C2110970T	PKD1	NM_001009944.3(PKD1):c.4197G>A:p.Trp1399Ter	coding	Pathogenic
16	2110999	G	A	G2110999A	PKD1	NM_001009944.3(PKD1):c.4168C>T:p.Gln1390Ter	coding	Pathogenic
16	2111153	G	A	G2111153A	PKD1	NM_001009944.3(PKD1):c.4014C>T:p.Thr1338=	coding	Benign/Likely_benign
16	2111438	C	T	C2111438T	PKD1	NM_001009944.3(PKD1):c.3729G>A:p.Trp1243Ter	coding	Pathogenic
16	2111439	C	T	C2111439T	PKD1	NM_001009944.3(PKD1):c.3728G>A:p.Trp1243Ter	coding	Pathogenic
16	2111488	C	A	C2111488A	PKD1	NM_001009944.3(PKD1):c.3679G>T:p.Ala1227Ser	coding	Benign/Likely_benign
16	2111560	G	A	G2111560A	PKD1	NM_001009944.3(PKD1):c.3607C>T:p.Gln1203Ter	coding	Pathogenic
16	2111606	G	C	G2111606C	PKD1	NM_001009944.3(PKD1):c.3561C>G:p.Tyr1187Ter	coding	Pathogenic
16	2111687	C	A	C2111687A	PKD1	NM_001009944.3(PKD1):c.3480G>T:p.Thr1160=	coding	Benign
16	2112338	A	C	A2112338C	PKD1	NM_001009944.3(PKD1):c.3295+2T>G	noncoding	Pathogenic
16	2112339	C	A	C2112339A	PKD1	NM_001009944.3(PKD1):c.3295+1G>T	noncoding	Pathogenic
16	2112882	G	A	G2112882A	PKD1	NM_001009944.3(PKD1):c.3067C>T:p.Gln1023Ter	coding	Pathogenic
16	2113214	G	A	G2113214A	PKD1	NM_001009944.3(PKD1):c.2932C>T:p.Gln978Ter	coding	Pathogenic
16	2113232	T	A	T2113232A	PKD1	NM_001009944.3(PKD1):c.2914A>T:p.Lys972Ter	coding	Pathogenic
16	2114169	C	T	C2114169T	PKD1	NM_001009944.3(PKD1):c.2853+1G>A	noncoding	Pathogenic
16	2114184	G	A	G2114184A	PKD1	NM_001009944.3(PKD1):c.2839C>T:p.Gln947Ter	coding	Pathogenic
16	2114215	G	A	G2114215A	PKD1	NM_001009944.3(PKD1):c.2808C>T:p.Arg936=	coding	Benign
16	2114339	G	T	G2114339T	PKD1	NM_001009944.3(PKD1):c.2684C>A:p.Ser895Ter	coding	Pathogenic
16	2114363	C	T	C2114363T	PKD1	NM_001009944.3(PKD1):c.2660G>A:p.Trp887Ter	coding	Pathogenic
16	2114478	C	T	C2114478T	PKD1	NM_001009944.3(PKD1):c.2545G>A:p.Val849Met	coding	Pathogenic
16	2114481	G	A	G2114481A	PKD1	NM_001009944.3(PKD1):c.2542C>T:p.Gln848Ter	coding	Pathogenic
16	2114495	G	C	G2114495C	PKD1	NM_001009944.3(PKD1):c.2528C>G:p.Ser843Ter	coding	Pathogenic
16	2114496	A	G	A2114496G	PKD1	NM_001009944.3(PKD1):c.2527T>C:p.Ser843Pro	coding	Benign
16	2114584	G	T	G2114584T	PKD1	NM_001009944.3(PKD1):c.2439C>A:p.Cys813Ter	coding	Pathogenic
16	2114773	C	T	C2114773T	PKD1	NM_001009944.3(PKD1):c.2250G>A:p.Trp750Ter	coding	Pathogenic
16	2114910	G	A	G2114910A	PKD1	NM_001009944.3(PKD1):c.2113C>T:p.Gln705Ter	coding	Pathogenic
16	2115386	G	A	G2115386A	PKD1	NM_001009944.3(PKD1):c.2089C>T:p.Gln697Ter	coding	Pathogenic
16	2115436	T	A	T2115436A	PKD1	NM_001009944.3(PKD1):c.2039A>T:p.Tyr680Phe	coding	Benign/Likely_benign
16	2115572	G	A	G2115572A	PKD1	NM_001009944.3(PKD1):c.1903C>T:p.Gln635Ter	coding	Pathogenic
16	2115991	C	A	C2115991A	PKD1	NM_001009944.3(PKD1):c.1849+1G>T	noncoding	Pathogenic
16	2116031	G	A	G2116031A	PKD1	NM_001009944.3(PKD1):c.1810C>T:p.Gln604Ter	coding	Pathogenic
16	2116551	G	C	G2116551C	PKD1	NM_001009944.3(PKD1):c.1700C>G:p.Ser567Ter	coding	Pathogenic
16	2116832	C	T	C2116832T	PKD1	NM_001009944.3(PKD1):c.1606+1G>A	noncoding	Pathogenic
16	2116891	C	T	C2116891T	PKD1	NM_001009944.3(PKD1):c.1548G>A:p.Trp516Ter	coding	Pathogenic
16	2117565	G	A	G2117565A	PKD1	NM_001009944.3(PKD1):c.1309C>T:p.Gln437Ter	coding	Pathogenic
16	2117593	C	T	C2117593T	PKD1	NM_001009944.3(PKD1):c.1281G>A:p.Ala427=	coding	Benign/Likely_benign
16	2117672	G	A	G2117672A	PKD1	NM_001009944.3(PKD1):c.1202C>T:p.Ala401Val	coding	Benign/Likely_benign
16	2117673	C	T	C2117673T	PKD1	NM_001009944.3(PKD1):c.1202-1G>A	coding	Pathogenic
16	2117674	T	A	T2117674A	PKD1	NM_001009944.3(PKD1):c.1202-2A>T	noncoding	Pathogenic
16	2117674	T	C	T2117674C	PKD1	NM_001009944.3(PKD1):c.1202-2A>G	noncoding	Pathogenic
16	2117971	C	T	C2117971T	PKD1	NM_001009944.3(PKD1):c.1021G>A:p.Ala341Thr	coding	Benign
16	2118041	A	G	A2118041G	PKD1	NM_001009944.3(PKD1):c.951T>C:p.Ala317=	coding	Benign
16	2118224	G	A	G2118224A	PKD1	NM_001009944.3(PKD1):c.768C>T:p.Ala256=	coding	Benign
16	2118253	G	A	G2118253A	PKD1	NM_001009944.3(PKD1):c.739C>T:p.Leu247Phe	coding	Benign/Likely_benign
16	2118376	G	A	G2118376A	PKD1	NM_001009944.3(PKD1):c.616C>T:p.Gln206Ter	coding	Pathogenic
16	2118412	C	T	C2118412T	PKD1	NM_001009944.3(PKD1):c.580G>A:p.Ala194Thr	coding	Benign/Likely_benign
16	2118426	G	C	G2118426C	PKD1	NM_001009944.3(PKD1):c.566C>G:p.Ser189Ter	coding	Pathogenic
16	2119112	A	C	A2119112C	PKD1	NM_001009944.3(PKD1):c.359+2T>G	noncoding	Pathogenic
16	2119169	T	A	T2119169A	PKD1	NM_001009944.3(PKD1):c.304A>T:p.Lys102Ter	coding	Pathogenic
16	2119322	G	T	G2119322T	PKD1	NM_001009944.3(PKD1):c.272C>A:p.Ser91Ter	coding	Pathogenic
16	2135499	C	G	C2135499G	PKD1	NM_001009944.3(PKD1):c.191G>C:p.Arg64Pro	coding	Pathogenic
16	2135579	G	T	G2135579T	PKD1	NM_001009944.3(PKD1):c.111C>A:p.Cys37Ter	coding	Pathogenic
16	2135741	G	A	G2135741A	PKD1	NM_001009944.3(PKD1):c.-52C>T	noncoding	Benign
16	2135798	G	A	G2135798A	PKD1	NM_001009944.3(PKD1):c.-109C>T	noncoding	Benign
16	2173989	C	G	C2173989G	TRAF7	NM_032271.3(TRAF7):c.1204C>G:p.Leu402Val	coding	Pathogenic
16	2174275	A	G	A2174275G	TRAF7	NM_032271.3(TRAF7):c.1288A>G:p.Lys430Glu	coding	Pathogenic
16	2175566	C	T	C2175566T	TRAF7	NM_032271.3(TRAF7):c.1570C>T:p.Arg524Trp	coding	Pathogenic/Likely_pathogenic
16	2175880	C	T	C2175880T	TRAF7	NM_032271.3(TRAF7):c.1673C>T:p.Ser558Phe	coding	Pathogenic
16	2277007	G	C	G2277007C	ABCA3	NM_001089.3(ABCA3):c.4984-202C>G	noncoding	Benign
16	2278649	G	T	G2278649T	ABCA3	NM_001089.3(ABCA3):c.4548-191C>A	noncoding	Benign
16	2278789	G	A	G2278789A	ABCA3	NM_001089.3(ABCA3):c.4547+154C>T	noncoding	Benign
16	2278888	T	C	T2278888C	ABCA3	NM_001089.3(ABCA3):c.4547+55A>G	noncoding	Benign
16	2278945	G	C	G2278945C	ABCA3	NM_001089.3(ABCA3):c.4545C>G:p.Tyr1515Ter	coding	Pathogenic
16	2279170	G	A	G2279170A	ABCA3	NM_001089.3(ABCA3):c.4360-40C>T	noncoding	Benign
16	2279260	C	T	C2279260T	ABCA3	NM_001089.3(ABCA3):c.4360-130G>A	noncoding	Benign
16	2281191	C	T	C2281191T	ABCA3	NM_001089.3(ABCA3):c.4195G>A:p.Val1399Met	coding	Pathogenic
16	2283386	C	T	C2283386T	ABCA3	NM_001089.3(ABCA3):c.3863-28G>A	noncoding	Benign/Likely_benign
16	2283456	G	A	G2283456A	ABCA3	NM_001089.3(ABCA3):c.3863-98C>T	noncoding	Pathogenic
16	2284162	C	A	C2284162A	ABCA3	NM_001089.3(ABCA3):c.3862+117G>T	noncoding	Benign
16	2284336	C	A	C2284336A	ABCA3	NM_001089.3(ABCA3):c.3805G>T:p.Glu1269Ter	coding	Pathogenic
16	2284553	A	T	A2284553T	ABCA3	NM_001089.3(ABCA3):c.3704-116T>A	noncoding	Benign
16	2285195	G	A	G2285195A	ABCA3	NM_001089.3(ABCA3):c.3484-197C>T	noncoding	Benign
16	2285410	G	A	G2285410A	ABCA3	NM_001089.3(ABCA3):c.3483+32C>T	noncoding	Benign
16	2286393	T	C	T2286393C	ABCA3	NM_001089.3(ABCA3):c.3278+301A>G	noncoding	Benign
16	2286737	G	A	G2286737A	ABCA3	NM_001089.3(ABCA3):c.3235C>T:p.Gln1079Ter	coding	Pathogenic
16	2287992	G	A	G2287992A	ABCA3	NM_001089.3(ABCA3):c.3004+34C>T	noncoding	Benign
16	2288150	C	G	C2288150G	ABCA3	NM_001089.3(ABCA3):c.2880G>C:p.Leu960Phe	coding	Pathogenic/Likely_pathogenic
16	2288362	C	G	C2288362G	ABCA3	NM_001089.3(ABCA3):c.2701-33G>C	noncoding	Benign
16	2289713	T	C	T2289713C	ABCA3	NM_001089.3(ABCA3):c.2514-93A>G	noncoding	Benign
16	2295387	T	C	T2295387C	ABCA3	NM_001089.3(ABCA3):c.2414+203A>G	noncoding	Benign
16	2295742	T	C	T2295742C	ABCA3	NM_001089.3(ABCA3):c.2264-2A>G	noncoding	Pathogenic
16	2295757	C	T	C2295757T	ABCA3	NM_001089.3(ABCA3):c.2264-17G>A	noncoding	Benign/Likely_benign
16	2295804	G	A	G2295804A	ABCA3	NM_001089.3(ABCA3):c.2264-64C>T	noncoding	Benign
16	2298656	A	G	A2298656G	ABCA3	NM_001089.3(ABCA3):c.1742-116T>C	noncoding	Benign
16	2298780	A	G	A2298780G	ABCA3	NM_001089.3(ABCA3):c.1742-240T>C	noncoding	Benign
16	2298819	G	C	G2298819C	ABCA3	NM_001089.3(ABCA3):c.1742-279C>G	noncoding	Benign
16	2299205	C	T	C2299205T	ABCA3	NM_001089.3(ABCA3):c.1741+198G>A	noncoding	Benign
16	2299266	G	A	G2299266A	ABCA3	NM_001089.3(ABCA3):c.1741+137C>T	noncoding	Benign
16	2299370	T	C	T2299370C	ABCA3	NM_001089.3(ABCA3):c.1741+33A>G	noncoding	Benign
16	2299759	G	T	G2299759T	ABCA3	NM_001089.3(ABCA3):c.1612-227C>A	noncoding	Benign
16	2300068	G	A	G2300068A	ABCA3	NM_001089.3(ABCA3):c.1548C>T:p.Asn516=	coding	Benign/Likely_benign
16	2303981	G	C	G2303981C	ABCA3	NM_001089.3(ABCA3):c.1455C>G:p.Tyr485Ter	coding	Pathogenic
16	2303981	G	T	G2303981T	ABCA3	NM_001089.3(ABCA3):c.1455C>A:p.Tyr485Ter	coding	Pathogenic
16	2303992	G	A	G2303992A	ABCA3	NM_001089.3(ABCA3):c.1444C>T:p.Gln482Ter	coding	Pathogenic
16	2304134	C	T	C2304134T	ABCA3	NM_001089.3(ABCA3):c.1302G>A:p.Trp434Ter	coding	Pathogenic
16	2304152	T	C	T2304152C	ABCA3	NM_001089.3(ABCA3):c.1286-2A>G	noncoding	Pathogenic
16	2308176	C	T	C2308176T	ABCA3	NM_001089.3(ABCA3):c.1285+274G>A	noncoding	Benign
16	2308312	C	T	C2308312T	ABCA3	NM_001089.3(ABCA3):c.1285+138G>A	noncoding	Benign
16	2308495	C	T	C2308495T	ABCA3	NM_001089.3(ABCA3):c.1240G>A:p.Ala414Thr	coding	Pathogenic
16	2308759	G	A	G2308759A	ABCA3	NM_001089.3(ABCA3):c.1112-136C>T	noncoding	Benign
16	2317423	G	A	G2317423A	ABCA3	NM_001089.3(ABCA3):c.991-20C>T	noncoding	Benign
16	2317444	G	C	G2317444C	ABCA3	NM_001089.3(ABCA3):c.991-41C>G	noncoding	Benign
16	2317508	G	T	G2317508T	ABCA3	NM_001089.3(ABCA3):c.991-105C>A	noncoding	Benign
16	2319271	G	T	G2319271T	ABCA3	NM_001089.3(ABCA3):c.873+310C>A	noncoding	Benign
16	2319711	G	A	G2319711A	ABCA3	NM_001089.3(ABCA3):c.743C>T:p.Pro248Leu	coding	Pathogenic
16	2320038	A	T	A2320038T	ABCA3	NM_001089.3(ABCA3):c.614-198T>A	noncoding	Benign
16	2323785	C	A	C2323785A	ABCA3	NM_001089.3(ABCA3):c.448-97G>T	noncoding	Benign
16	2323926	T	A	T2323926A	ABCA3	NM_001089.3(ABCA3):c.448-238A>T	noncoding	Benign
16	2324285	T	C	T2324285C	ABCA3	NM_001089.3(ABCA3):c.447+119A>G	noncoding	Benign
16	2324548	C	T	C2324548T	ABCA3	NM_001089.3(ABCA3):c.320-17G>A	noncoding	Benign
16	2326705	T	C	T2326705C	ABCA3	NM_001089.3(ABCA3):c.-26-213A>G	noncoding	Benign
16	2429481	G	C	G2429481C	CCNF	NM_001761.3(CCNF):c.-1G>C	noncoding	Benign
16	2429711	A	C	A2429711C	CCNF	NM_001761.3(CCNF):c.16+214A>C	noncoding	Benign
16	2430947	A	G	A2430947G	CCNF	NM_001761.3(CCNF):c.17-183A>G	noncoding	Benign
16	2431103	C	G	C2431103G	CCNF	NM_001761.3(CCNF):c.17-27C>G	noncoding	Benign
16	2433179	T	C	T2433179C	CCNF	NM_001761.3(CCNF):c.278+112T>C	noncoding	Benign
16	2435895	A	G	A2435895G	CCNF	NM_001761.3(CCNF):c.346+22A>G	noncoding	Benign
16	2436997	A	T	A2436997T	CCNF	NM_001761.3(CCNF):c.347-132A>T	noncoding	Benign
16	2437419	G	T	G2437419T	CCNF	NM_001761.3(CCNF):c.540+97G>T	noncoding	Benign
16	2437483	C	T	C2437483T	CCNF	NM_001761.3(CCNF):c.540+161C>T	noncoding	Benign
16	2438114	T	G	T2438114G	CCNF	NM_001761.3(CCNF):c.585T>G:p.Ser195Arg	coding	Pathogenic
16	2438210	T	C	T2438210C	CCNF	NM_001761.3(CCNF):c.594+87T>C	noncoding	Benign
16	2439532	T	G	T2439532G	CCNF	NM_001761.3(CCNF):c.699+75T>G	noncoding	Benign
16	2439969	C	T	C2439969T	CCNF	NM_001761.3(CCNF):c.777+143C>T	noncoding	Benign
16	2448827	A	G	A2448827G	CCNF	NM_001761.3(CCNF):c.1095-28A>G	noncoding	Benign
16	2448848	G	A	G2448848A	CCNF	NM_001761.3(CCNF):c.1095-7G>A	noncoding	Benign
16	2448935	G	C	G2448935C	CCNF	NM_001761.3(CCNF):c.1175G>C:p.Arg392Thr	coding	Pathogenic
16	2449010	T	C	T2449010C	CCNF	NM_001761.3(CCNF):c.1218+32T>C	noncoding	Benign
16	2455540	A	G	A2455540G	CCNF	NM_001761.3(CCNF):c.1861A>G:p.Ser621Gly	coding	Pathogenic
16	2455549	G	A	G2455549A	CCNF	NM_001761.3(CCNF):c.1870G>A:p.Glu624Lys	coding	Pathogenic
16	2456305	G	A	G2456305A	CCNF	NM_001761.3(CCNF):c.1886-240G>A	noncoding	Benign
16	2456412	A	G	A2456412G	CCNF	NM_001761.3(CCNF):c.1886-133A>G	noncoding	Benign
16	2475243	C	T	C2475243T	TBC1D24	NM_001199107.2(TBC1D24):c.-116+73C>T	noncoding	Benign
16	2496263	G	C	G2496263C	TBC1D24	NM_001199107.2(TBC1D24):c.115G>C:p.Ala39Pro	coding	Pathogenic
16	2496264	C	T	C2496264T	TBC1D24	NM_001199107.2(TBC1D24):c.116C>T:p.Ala39Val	coding	Pathogenic
16	2496631	C	A	C2496631A	TBC1D24	NM_001199107.2(TBC1D24):c.483C>A:p.Cys161Ter	coding	Pathogenic/Likely_pathogenic
16	2496784	G	A	G2496784A	TBC1D24	NM_001199107.2(TBC1D24):c.636G>A:p.Trp212Ter	coding	Pathogenic
16	2496834	T	C	T2496834C	TBC1D24	NM_001199107.2(TBC1D24):c.686T>C:p.Phe229Ser	coding	Pathogenic
16	2497033	C	G	C2497033G	TBC1D24	NM_001199107.2(TBC1D24):c.885C>G:p.Phe295Leu	coding	Benign/Likely_benign
16	2497723	A	T	A2497723T	TBC1D24	NM_001199107.2(TBC1D24):c.979A>T:p.Lys327Ter	coding	Pathogenic
16	2499422	T	C	T2499422C	TBC1D24	NM_001199107.2(TBC1D24):c.1206+2T>C	noncoding	Pathogenic
16	2499962	C	T	C2499962T	TBC1D24	NM_001199107.2(TBC1D24):c.1302+32C>T	noncoding	Benign
16	2499968	C	T	C2499968T	TBC1D24	NM_001199107.2(TBC1D24):c.1302+38C>T	noncoding	Benign
16	2500464	C	T	C2500464T	TBC1D24	NM_001199107.2(TBC1D24):c.1499C>T:p.Ala500Val	coding	Pathogenic/Likely_pathogenic
16	2500780	G	A	G2500780A	TBC1D24	NM_001199107.2(TBC1D24):c.1526-24G>A	noncoding	Benign
16	2500818	C	T	C2500818T	TBC1D24	NM_001199107.2(TBC1D24):c.1540C>T:p.Gln514Ter	coding	Pathogenic
16	2519722	G	A	G2519722A	ATP6V0C	NM_001694.4(ATP6V0C):c.445G>A:p.Ala149Thr	coding	Pathogenic
16	2756422	C	T	C2756422T	SRRM2	NM_016333.4(SRRM2):c.58C>T:p.Gln20Ter	coding	Pathogenic
16	2761565	C	T	C2761565T	SRRM2	NM_016333.4(SRRM2):c.1037C>T:p.Ser346Phe	coding	Benign
16	2762410	C	T	C2762410T	SRRM2	NM_016333.4(SRRM2):c.1882C>T:p.Arg628Ter	coding	Pathogenic
16	2762889	A	G	A2762889G	SRRM2	NM_016333.4(SRRM2):c.2361A>G:p.Lys787=	coding	Benign
16	2762938	C	A	C2762938A	SRRM2	NM_016333.4(SRRM2):c.2410C>A:p.Pro804Thr	coding	Benign
16	2763874	C	T	C2763874T	SRRM2	NM_016333.4(SRRM2):c.3346C>T:p.Gln1116Ter	coding	Pathogenic
16	2765144	C	A	C2765144A	SRRM2	NM_016333.4(SRRM2):c.4616C>A:p.Ser1539Ter	coding	Pathogenic
16	2765441	C	G	C2765441G	SRRM2	NM_016333.4(SRRM2):c.4913C>G:p.Ser1638Ter	coding	Pathogenic
16	2765602	C	T	C2765602T	SRRM2	NM_016333.4(SRRM2):c.5074C>T:p.Arg1692Ter	coding	Pathogenic
16	2766655	C	T	C2766655T	SRRM2	NM_016333.4(SRRM2):c.6127C>T:p.Arg2043Ter	coding	Pathogenic
16	2766793	C	T	C2766793T	SRRM2	NM_016333.4(SRRM2):c.6265C>T:p.Arg2089Ter	coding	Pathogenic
16	3025700	C	T	C3025700T	THOC6	NM_024339.5(THOC6):c.40-8C>T	noncoding	Benign
16	3025998	C	G	C3025998G	THOC6	NM_024339.5(THOC6):c.220+10C>G	noncoding	Benign
16	3026392	C	T	C3026392T	THOC6	NM_024339.5(THOC6):c.390C>T:p.Asn130=	coding	Benign
16	3090184	G	T	G3090184T	ZSCAN10	NM_032805.3(ZSCAN10):c.1250C>A:p.Ser417Ter	coding	Pathogenic
16	3243321	C	T	C3243321T	MEFV	NM_000243.3(MEFV):c.2166G>A:p.Val722=	coding	Benign
16	3243378	G	A	G3243378A	MEFV	NM_000243.3(MEFV):c.2109C>T:p.Ser703=	coding	Benign/Likely_benign
16	3243407	T	C	T3243407C	MEFV	NM_000243.3(MEFV):c.2080A>G:p.Met694Val	coding	Pathogenic/Likely_pathogenic
16	3243480	G	A	G3243480A	MEFV	NM_000243.3(MEFV):c.2007C>T:p.Ala669=	coding	Benign
16	3243808	G	C	G3243808C	MEFV	NM_000243.3(MEFV):c.1792+52C>G	noncoding	Benign
16	3246339	T	C	T3246339C	MEFV	NM_000243.3(MEFV):c.1610+186A>G	noncoding	Benign
16	3247093	G	A	G3247093A	MEFV	NM_000243.3(MEFV):c.1510C>T:p.Gln504Ter	coding	Pathogenic
16	3248865	T	C	T3248865C	MEFV	NM_000243.3(MEFV):c.1356+44A>G	noncoding	Benign
16	3249339	C	T	C3249339T	MEFV	NM_000243.3(MEFV):c.1260+92G>A	noncoding	Benign
16	3249803	C	T	C3249803T	MEFV	NM_000243.3(MEFV):c.911-23G>A	noncoding	Benign
16	3254159	G	A	G3254159A	MEFV	NM_000243.3(MEFV):c.909C>T:p.Thr303=	coding	Benign
16	3254342	G	T	G3254342T	MEFV	NM_000243.3(MEFV):c.726C>A:p.Ser242Arg	coding	Pathogenic
16	3254657	G	C	G3254657C	MEFV	NM_000243.3(MEFV):c.411C>G:p.Gly137=	coding	Benign
16	3256540	C	T	C3256540T	MEFV	NM_000243.3(MEFV):c.48G>A:p.Leu16=	coding	Benign/Likely_benign
16	3256551	G	C	G3256551C	MEFV	NM_000243.3(MEFV):c.37C>G:p.Leu13Val	coding	Benign
16	3256757	C	T	C3256757T	MEFV	Single_allele	noncoding	Benign
16	3256917	C	T	C3256917T	MEFV	NM_000243.2(MEFV):c.-330G>A	noncoding	Benign/Likely_benign
16	3256969	G	A	G3256969A	MEFV	NC_000016.9:g.3306969G>A	noncoding	Benign/Likely_benign
16	3501107	C	G	C3501107G	CLUAP1	NM_015041.3(CLUAP1):c.22+18C>G	noncoding	Benign
16	3504799	T	C	T3504799C	CLUAP1	NM_015041.3(CLUAP1):c.102T>C:p.Leu34=	coding	Benign
16	3504840	G	T	G3504840T	CLUAP1	NM_015041.3(CLUAP1):c.134+9G>T	noncoding	Benign
16	3508283	A	T	A3508283T	CLUAP1	NM_015041.3(CLUAP1):c.220-6A>T	noncoding	Benign
16	3508381	T	C	T3508381C	CLUAP1	NM_015041.3(CLUAP1):c.312T>C:p.Leu104=	coding	Benign
16	3508389	C	T	C3508389T	CLUAP1	NM_015041.3(CLUAP1):c.320C>T:p.Ala107Val	coding	Benign
16	3512415	G	A	G3512415A	CLUAP1	NM_015041.3(CLUAP1):c.432G>A:p.Ala144=	coding	Benign
16	3519909	G	T	G3519909T	CLUAP1	NM_015041.3(CLUAP1):c.586G>T:p.Val196Phe	coding	Benign
16	3523248	T	C	T3523248C	CLUAP1	NM_015041.3(CLUAP1):c.804T>C:p.Tyr268=	coding	Benign
16	3526396	A	T	A3526396T	CLUAP1	NM_015041.3(CLUAP1):c.856-16A>T	noncoding	Benign
16	3530565	T	C	T3530565C	CLUAP1	NM_015041.3(CLUAP1):c.929-3T>C	noncoding	Benign
16	3532767	A	G	A3532767G	CLUAP1	NM_015041.3(CLUAP1):c.1037-19A>G	noncoding	Benign
16	3532814	G	A	G3532814A	CLUAP1	NM_015041.3(CLUAP1):c.1065G>A:p.Thr355=	coding	Benign
16	3536230	C	T	C3536230T	CLUAP1	NM_015041.3(CLUAP1):c.1201C>T:p.Arg401Trp	coding	Benign
16	3582773	A	G	A3582773G	SLX4	NM_032444.4(SLX4):c.5154-80T>C	noncoding	Benign
16	3583340	G	C	G3583340C	SLX4	NM_032444.4(SLX4):c.4910C>G:p.Ser1637Ter	coding	Pathogenic
16	3583413	C	A	C3583413A	SLX4	NM_032444.4(SLX4):c.4837G>T:p.Glu1613Ter	coding	Pathogenic
16	3583414	G	A	G3583414A	SLX4	NM_032444.4(SLX4):c.4836C>T:p.Asp1612=	coding	Benign/Likely_benign
16	3583452	G	A	G3583452A	SLX4	NM_032444.4(SLX4):c.4798C>T:p.Gln1600Ter	coding	Pathogenic
16	3583656	A	G	A3583656G	SLX4	NM_032444.4(SLX4):c.4740-146T>C	noncoding	Benign
16	3584571	A	T	A3584571T	SLX4	NM_032444.4(SLX4):c.4739+198T>A	noncoding	Benign
16	3584598	A	G	A3584598G	SLX4	NM_032444.4(SLX4):c.4739+171T>C	noncoding	Benign
16	3584690	C	T	C3584690T	SLX4	NM_032444.4(SLX4):c.4739+79G>A	noncoding	Benign
16	3584745	C	A	C3584745A	SLX4	NM_032444.4(SLX4):c.4739+24G>T	noncoding	Benign
16	3584981	A	G	A3584981G	SLX4	NM_032444.4(SLX4):c.4637-110T>C	noncoding	Benign
16	3585098	G	A	G3585098A	SLX4	NM_032444.4(SLX4):c.4637-227C>T	noncoding	Benign
16	3585189	T	G	T3585189G	SLX4	NM_032444.4(SLX4):c.4637-318A>C	noncoding	Benign
16	3588808	G	A	G3588808A	SLX4	NM_032444.4(SLX4):c.4636+194C>T	noncoding	Benign
16	3589013	A	T	A3589013T	SLX4	NM_032444.4(SLX4):c.4625T>A:p.Leu1542Ter	coding	Pathogenic
16	3589722	G	A	G3589722A	SLX4	NM_032444.4(SLX4):c.3916C>T:p.Gln1306Ter	coding	Pathogenic
16	3589914	C	A	C3589914A	SLX4	NM_032444.4(SLX4):c.3724G>T:p.Glu1242Ter	coding	Pathogenic
16	3590399	G	C	G3590399C	SLX4	NM_032444.4(SLX4):c.3239C>G:p.Ser1080Ter	coding	Pathogenic
16	3591169	C	T	C3591169T	SLX4	NM_032444.4(SLX4):c.2469G>A:p.Trp823Ter	coding	Pathogenic
16	3592736	G	C	G3592736C	SLX4	NM_032444.4(SLX4):c.2290C>G:p.Pro764Ala	coding	Benign/Likely_benign
16	3592800	G	A	G3592800A	SLX4	NM_032444.4(SLX4):c.2226C>T:p.Asp742=	coding	Benign
16	3594510	C	G	C3594510G	SLX4	NM_032444.4(SLX4):c.2103G>C:p.Glu701Asp	coding	Benign/Likely_benign
16	3595422	T	C	T3595422C	SLX4	NM_032444.4(SLX4):c.2013+183A>G	noncoding	Benign
16	3595468	C	G	C3595468G	SLX4	NM_032444.4(SLX4):c.2013+137G>C	noncoding	Benign
16	3595706	T	A	T3595706A	SLX4	NM_032444.4(SLX4):c.1925-13A>T	noncoding	Benign/Likely_benign
16	3595908	G	C	G3595908C	SLX4	NM_032444.4(SLX4):c.1925-215C>G	noncoding	Benign
16	3596134	G	T	G3596134T	SLX4	NM_032444.4(SLX4):c.1924+19C>A	noncoding	Benign/Likely_benign
16	3597097	G	A	G3597097A	SLX4	NM_032444.4(SLX4):c.1683+282C>T	noncoding	Benign
16	3597261	G	A	G3597261A	SLX4	NM_032444.4(SLX4):c.1683+118C>T	noncoding	Benign
16	3598074	G	C	G3598074C	SLX4	NM_032444.4(SLX4):c.1164-75C>G	noncoding	Benign
16	3601270	C	T	C3601270T	SLX4	NM_032444.4(SLX4):c.951-79G>A	noncoding	Benign
16	3601423	G	A	G3601423A	SLX4	NM_032444.4(SLX4):c.951-232C>T	noncoding	Benign
16	3601946	A	G	A3601946G	SLX4	NM_032444.4(SLX4):c.950+172T>C	noncoding	Benign
16	3602600	A	C	A3602600C	SLX4	NM_032444.4(SLX4):c.761-293T>G	noncoding	Benign
16	3602605	T	C	T3602605C	SLX4	NM_032444.4(SLX4):c.761-298A>G	noncoding	Benign
16	3606963	C	T	C3606963T	SLX4	NM_032444.4(SLX4):c.536-265G>A	noncoding	Benign
16	3607033	T	C	T3607033C	SLX4	NM_032444.4(SLX4):c.536-335A>G	noncoding	Benign
16	3608220	A	G	A3608220G	SLX4	NM_032444.4(SLX4):c.535+210T>C	noncoding	Benign
16	3608582	C	T	C3608582T	SLX4	NM_032444.4(SLX4):c.383G>A:p.Trp128Ter	coding	Pathogenic
16	3609592	T	G	T3609592G	SLX4	NM_032444.4(SLX4):c.-602-26A>C	noncoding	Benign
16	3609738	A	G	A3609738G	SLX4	NM_032444.4(SLX4):c.-602-172T>C	noncoding	Benign
16	3609794	A	G	A3609794G	SLX4	NM_032444.4(SLX4):c.-602-228T>C	noncoding	Benign
16	3657204	C	T	C3657204T	DNASE1	NM_005223.4(DNASE1):c.567C>T:p.Gly189=	coding	Benign
16	3658169	C	T	C3658169T	TRAP1	NM_016292.3(TRAP1):c.2075G>A:p.Arg692His	coding	Benign
16	3661976	C	T	C3661976T	TRAP1	NM_016292.3(TRAP1):c.1940+11G>A	noncoding	Benign
16	3663412	G	A	G3663412A	TRAP1	NM_016292.3(TRAP1):c.1708+12C>T	noncoding	Benign
16	3663467	G	A	G3663467A	TRAP1	NM_016292.3(TRAP1):c.1665C>T:p.Val555_Val556=	coding	Benign
16	3663528	G	C	G3663528C	TRAP1	NM_016292.3(TRAP1):c.1604C>G:p.Thr535Ser	coding	Benign
16	3666024	A	T	A3666024T	TRAP1	NM_016292.3(TRAP1):c.1330T>A:p.Tyr444Asn	coding	Benign/Likely_benign
16	3671706	G	A	G3671706A	TRAP1	NM_016292.3(TRAP1):c.1235+16C>T	noncoding	Benign
16	3671713	G	C	G3671713C	TRAP1	NM_016292.3(TRAP1):c.1235+9C>G	noncoding	Benign
16	3671802	C	G	C3671802G	TRAP1	NM_016292.3(TRAP1):c.1166-11G>C	noncoding	Benign
16	3672826	G	A	G3672826A	TRAP1	NM_016292.3(TRAP1):c.1045-6C>T	noncoding	Benign
16	3673045	C	G	C3673045G	TRAP1	NM_016292.3(TRAP1):c.1045-225G>C	noncoding	Benign
16	3674450	A	G	A3674450G	TRAP1	NM_016292.3(TRAP1):c.933T>C:p.His311=	coding	Benign
16	3674513	G	A	G3674513A	TRAP1	NM_016292.3(TRAP1):c.889-19C>T	noncoding	Benign
16	3676453	T	G	T3676453G	TRAP1	NM_016292.3(TRAP1):c.705-308A>C	noncoding	Benign
16	3677628	C	T	C3677628T	TRAP1	NM_016292.3(TRAP1):c.574G>A:p.Glu192Lys	coding	Benign
16	3685978	G	A	G3685978A	TRAP1	NM_016292.3(TRAP1):c.471+18C>T	noncoding	Benign
16	3686065	G	A	G3686065A	TRAP1	NM_016292.3(TRAP1):c.402C>T:p.Asp134=	coding	Benign
16	3686084	C	T	C3686084T	TRAP1	NM_016292.3(TRAP1):c.383G>A:p.Arg128His	coding	Benign/Likely_benign
16	3688886	C	T	C3688886T	TRAP1	NM_016292.3(TRAP1):c.330+169G>A	noncoding	Benign
16	3727696	A	G	A3727696G	CREBBP	NM_004380.3(CREBBP):c.*22T>C	noncoding	Benign
16	3728195	G	C	G3728195C	CREBBP	NM_004380.3(CREBBP):c.6852C>G:p.Thr2284=	coding	Benign/Likely_benign
16	3728363	G	A	G3728363A	CREBBP	NM_004380.3(CREBBP):c.6684C>T:p.His2228=	coding	Benign/Likely_benign
16	3728391	G	A	G3728391A	CREBBP	NM_004380.3(CREBBP):c.6656C>T:p.Ala2219Val	coding	Benign
16	3728696	G	A	G3728696A	CREBBP	NM_004380.3(CREBBP):c.6351C>T:p.Pro2117=	coding	Benign
16	3728723	G	C	G3728723C	CREBBP	NM_004380.3(CREBBP):c.6324C>G:p.Tyr2108Ter	coding	Pathogenic
16	3728882	G	A	G3728882A	CREBBP	NM_004380.3(CREBBP):c.6165C>T:p.Ser2055=	coding	Benign/Likely_benign
16	3729113	G	A	G3729113A	CREBBP	NM_004380.3(CREBBP):c.5934C>T:p.Asn1978=	coding	Benign/Likely_benign
16	3729117	A	T	A3729117T	CREBBP	NM_004380.3(CREBBP):c.5930T>A:p.Ile1977Asn	coding	Benign
16	3729161	G	A	G3729161A	CREBBP	NM_004380.3(CREBBP):c.5886C>T:p.Ile1962=	coding	Benign/Likely_benign
16	3729209	T	G	T3729209G	CREBBP	NM_004380.3(CREBBP):c.5838A>C:p.Pro1946=	coding	Benign
16	3729265	G	A	G3729265A	CREBBP	NM_004380.3(CREBBP):c.5782C>T:p.Gln1928Ter	coding	Pathogenic
16	3729277	C	T	C3729277T	CREBBP	NM_004380.3(CREBBP):c.5770G>A:p.Val1924Met	coding	Benign/Likely_benign
16	3729337	G	A	G3729337A	CREBBP	NM_004380.3(CREBBP):c.5710C>T:p.Gln1904Ter	coding	Pathogenic
16	3729534	C	T	C3729534T	CREBBP	NM_004380.3(CREBBP):c.5513G>A:p.Cys1838Tyr	coding	Pathogenic
16	3729608	G	C	G3729608C	CREBBP	NM_004380.3(CREBBP):c.5439C>G:p.Asn1813Lys	coding	Pathogenic
16	3729690	C	T	C3729690T	CREBBP	NM_004380.3(CREBBP):c.5357G>A:p.Arg1786His	coding	Pathogenic/Likely_pathogenic
16	3729901	G	A	G3729901A	CREBBP	NM_004380.3(CREBBP):c.5173-27C>T	noncoding	Benign
16	3731195	G	C	G3731195C	CREBBP	NM_004380.3(CREBBP):c.5169C>G:p.Cys1723Trp	coding	Pathogenic
16	3731206	A	G	A3731206G	CREBBP	NM_004380.3(CREBBP):c.5158T>C:p.Cys1720Arg	coding	Pathogenic/Likely_pathogenic
16	3731996	C	T	C3731996T	CREBBP	NM_004380.3(CREBBP):c.4729-59G>A	noncoding	Benign
16	3735826	C	T	C3735826T	CREBBP	NM_004380.3(CREBBP):c.4728+210G>A	noncoding	Benign
16	3736205	T	A	T3736205A	CREBBP	NM_004380.3(CREBBP):c.4561-2A>T	noncoding	Pathogenic
16	3739319	C	T	C3739319T	CREBBP	NM_004380.3(CREBBP):c.4280+259G>A	noncoding	Benign
16	3739536	G	A	G3739536A	CREBBP	NM_004380.3(CREBBP):c.4280+42C>T	noncoding	Benign
16	3740306	T	C	T3740306C	CREBBP	NM_004380.3(CREBBP):c.4133+93A>G	noncoding	Benign
16	3744790	A	G	A3744790G	CREBBP	NM_004380.3(CREBBP):c.3982+104T>C	noncoding	Benign
16	3744985	G	A	G3744985A	CREBBP	NM_004380.3(CREBBP):c.3915-24C>T	noncoding	Benign
16	3745350	C	T	C3745350T	CREBBP	NM_004380.3(CREBBP):c.3841G>A:p.Val1281Ile	coding	Benign/Likely_benign
16	3757764	G	T	G3757764T	CREBBP	NM_004380.3(CREBBP):c.3609+45C>A	noncoding	Benign
16	3758583	C	T	C3758583T	CREBBP	NM_004380.3(CREBBP):c.3369+271G>A	noncoding	Benign
16	3767765	C	A	C3767765A	CREBBP	NM_004380.3(CREBBP):c.3205G>T:p.Gly1069Cys	coding	Benign
16	3768062	G	T	G3768062T	CREBBP	NM_004380.3(CREBBP):c.3061-153C>A	noncoding	Benign
16	3769065	T	A	T3769065A	CREBBP	NM_004380.3(CREBBP):c.3060+109A>T	noncoding	Benign
16	3769210	G	A	G3769210A	CREBBP	NM_004380.3(CREBBP):c.3024C>T:p.Pro1008=	coding	Benign/Likely_benign
16	3769213	C	G	C3769213G	CREBBP	NM_004380.3(CREBBP):c.3021G>C:p.Glu1007Asp	coding	Benign/Likely_benign
16	3770834	C	T	C3770834T	CREBBP	NM_004380.3(CREBBP):c.2616G>A:p.Thr872=	coding	Benign/Likely_benign
16	3770968	C	A	C3770968A	CREBBP	NM_004380.3(CREBBP):c.2482G>T:p.Ala828Ser	coding	Benign/Likely_benign
16	3774224	A	G	A3774224G	CREBBP	NM_004380.3(CREBBP):c.2284-294T>C	noncoding	Benign
16	3774613	T	C	T3774613C	CREBBP	NM_004380.3(CREBBP):c.2239A>G:p.Met747Val	coding	Benign/Likely_benign
16	3774627	C	G	C3774627G	CREBBP	NM_004380.3(CREBBP):c.2225G>C:p.Arg742Pro	coding	Benign
16	3774731	C	T	C3774731T	CREBBP	NM_004380.3(CREBBP):c.2159-38G>A	noncoding	Benign
16	3777532	C	T	C3777532T	CREBBP	NM_004380.3(CREBBP):c.2158+81G>A	noncoding	Benign
16	3777552	G	A	G3777552A	CREBBP	NM_004380.3(CREBBP):c.2158+61C>T	noncoding	Benign
16	3777807	G	A	G3777807A	CREBBP	NM_004380.3(CREBBP):c.2114-150C>T	noncoding	Benign
16	3777930	T	C	T3777930C	CREBBP	NM_004380.3(CREBBP):c.2113+81A>G	noncoding	Benign
16	3778147	G	T	G3778147T	CREBBP	NM_004380.3(CREBBP):c.1977C>A:p.Tyr659Ter	coding	Pathogenic
16	3778206	T	C	T3778206C	CREBBP	NM_004380.3(CREBBP):c.1942-24A>G	noncoding	Benign
16	3778347	A	G	A3778347G	CREBBP	NM_004380.3(CREBBP):c.1942-165T>C	noncoding	Benign
16	3778584	G	T	G3778584T	CREBBP	NM_004380.3(CREBBP):c.1941+116C>A	noncoding	Benign
16	3780812	A	C	A3780812C	CREBBP	NM_004380.3(CREBBP):c.1743T>G:p.Ala581=	coding	Benign/Likely_benign
16	3781262	G	A	G3781262A	CREBBP	NM_004380.3(CREBBP):c.1618C>T:p.Gln540Ter	coding	Pathogenic
16	3781318	G	A	G3781318A	CREBBP	NM_004380.3(CREBBP):c.1574-12C>T	noncoding	Benign
16	3781586	G	A	G3781586A	CREBBP	NM_004380.3(CREBBP):c.1574-280C>T	noncoding	Benign
16	3781601	C	T	C3781601T	CREBBP	NM_004380.3(CREBBP):c.1574-295G>A	noncoding	Benign
16	3782374	G	A	G3782374A	CREBBP	NM_004380.3(CREBBP):c.1573+310C>T	noncoding	Benign
16	3782470	A	G	A3782470G	CREBBP	NM_004380.3(CREBBP):c.1573+214T>C	noncoding	Benign
16	3782858	C	T	C3782858T	CREBBP	NM_004380.3(CREBBP):c.1399G>A:p.Ala467Thr	coding	Benign/Likely_benign
16	3782958	C	A	C3782958A	CREBBP	NM_004380.3(CREBBP):c.1331-32G>T	noncoding	Benign
16	3793271	A	G	A3793271G	CREBBP	NM_004380.3(CREBBP):c.1216+115T>C	noncoding	Benign
16	3793366	G	T	G3793366T	CREBBP	NM_004380.3(CREBBP):c.1216+20C>A	noncoding	Benign/Likely_benign
16	3810538	G	A	G3810538A	CREBBP	NM_004380.3(CREBBP):c.975+65C>T	noncoding	Benign
16	3810673	C	T	C3810673T	CREBBP	NM_004380.3(CREBBP):c.905G>A:p.Ser302Asn	coding	Benign/Likely_benign
16	3810776	C	A	C3810776A	CREBBP	NM_004380.3(CREBBP):c.802G>T:p.Gly268Ter	coding	Pathogenic
16	3850383	C	G	C3850383G	CREBBP	NM_004380.3(CREBBP):c.712G>C:p.Val238Leu	coding	Benign/Likely_benign
16	3850637	G	A	G3850637A	CREBBP	NM_004380.3(CREBBP):c.458C>T:p.Pro153Leu	coding	Benign/Likely_benign
16	3850712	G	C	G3850712C	CREBBP	NM_004380.3(CREBBP):c.383C>G:p.Ser128Cys	coding	Benign/Likely_benign
16	3850845	G	T	G3850845T	CREBBP	NM_004380.3(CREBBP):c.250C>A:p.Pro84Thr	coding	Benign
16	3850872	G	A	G3850872A	CREBBP	NM_004380.3(CREBBP):c.223C>T:p.Arg75Ter	coding	Pathogenic
16	3851284	G	A	G3851284A	CREBBP	NM_004380.3(CREBBP):c.86-275C>T	noncoding	Benign
16	3879942	C	T	C3879942T	CREBBP	NM_004380.3(CREBBP):c.-26G>A	noncoding	Benign
16	4332064	T	C	T4332064C	GLIS2	NM_032575.3(GLIS2):c.-66-151T>C	noncoding	Benign
16	4332606	T	G	T4332606G	GLIS2	NM_032575.3(GLIS2):c.172+154T>G	noncoding	Benign
16	4332652	G	T	G4332652T	GLIS2	NM_032575.3(GLIS2):c.172+200G>T	noncoding	Benign
16	4336640	G	A	G4336640A	GLIS2	NM_032575.3(GLIS2):c.776-85G>A	noncoding	Benign
16	4340031	G	C	G4340031C	PAM16	Single_allele	noncoding	Benign
16	4340357	G	T	G4340357T	PAM16	NM_016069.11(PAM16):c.340C>A:p.Gln114Lys	coding	Benign
16	4340872	A	G	A4340872G	PAM16	NM_016069.11(PAM16):c.291+48T>C	noncoding	Benign
16	4340988	G	A	G4340988A	PAM16	NM_016069.11(PAM16):c.226-3C>T	noncoding	Benign
16	4341039	T	C	T4341039C	PAM16	NM_016069.11(PAM16):c.226-54A>G	noncoding	Benign
16	4341280	A	G	A4341280G	PAM16	NM_016069.11(PAM16):c.225+88T>C	noncoding	Benign
16	4341353	G	A	G4341353A	PAM16	NM_016069.11(PAM16):c.225+15C>T	noncoding	Benign
16	4341462	C	T	C4341462T	PAM16	NM_016069.11(PAM16):c.131G>A:p.Arg44Gln	coding	Benign
16	4341566	C	T	C4341566T	PAM16	NM_016069.11(PAM16):c.89-62G>A	noncoding	Benign
16	4341732	T	A	T4341732A	PAM16	NM_016069.11(PAM16):c.89-228A>T	noncoding	Benign
16	4341808	T	C	T4341808C	PAM16	NM_016069.11(PAM16):c.89-304A>G	noncoding	Benign
16	4343195	A	G	A4343195G	PAM16	NM_016069.11(PAM16):c.88+12T>C	noncoding	Benign
16	4343375	A	C	A4343375C	PAM16	NM_016069.11(PAM16):c.4-84T>G	noncoding	Benign
16	4351057	G	C	G4351057C	PAM16	NM_016069.11(PAM16):c.3+175C>G	noncoding	Benign
16	4351218	G	A	G4351218A	PAM16	NM_016069.11(PAM16):c.3+14C>T	noncoding	Benign
16	4351556	G	T	G4351556T	PAM16	NM_001201479.2(CORO7-PAM16):c.2772+3730C>A	noncoding	Benign
16	4395326	C	T	C4395326T	CORO7-PAM16	NM_024535.5(CORO7):c.578G>A:p.Arg193Gln	coding	Benign
16	4783221	T	C	T4783221C	SEPTIN12	NM_144605.5(SEPTIN12):c.726+241A>G	noncoding	Benign
16	4783420	A	G	A4783420G	SEPTIN12	NM_144605.5(SEPTIN12):c.726+42T>C	noncoding	Benign
16	4783969	C	T	C4783969T	SEPTIN12	NM_144605.5(SEPTIN12):c.474G>A:p.Val158=	coding	Benign
16	4784164	C	T	C4784164T	SEPTIN12	NM_144605.5(SEPTIN12):c.375-96G>A	noncoding	Benign
16	4784167	C	T	C4784167T	SEPTIN12	NM_144605.5(SEPTIN12):c.375-99G>A	noncoding	Benign
16	4784323	G	A	G4784323A	SEPTIN12	NM_144605.5(SEPTIN12):c.375-255C>T	noncoding	Benign
16	4784341	A	G	A4784341G	SEPTIN12	NM_144605.5(SEPTIN12):c.375-273T>C	noncoding	Benign
16	4784377	A	C	A4784377C	SEPTIN12	NM_144605.5(SEPTIN12):c.375-309T>G	noncoding	Benign
16	4784383	C	T	C4784383T	SEPTIN12	NM_144605.5(SEPTIN12):c.375-315G>A	noncoding	Benign
16	4787361	T	C	T4787361C	SEPTIN12	NM_144605.5(SEPTIN12):c.166+119A>G	noncoding	Benign
16	4787544	A	G	A4787544G	SEPTIN12	NM_144605.5(SEPTIN12):c.102T>C:p.Ala34=	coding	Benign
16	4787964	T	C	T4787964C	SEPTIN12	NM_144605.5(SEPTIN12):c.-22-297A>G	noncoding	Benign
16	4797523	T	C	T4797523C	ROGDI	NM_024589.3(ROGDI):c.823-22A>G	noncoding	Benign
16	4797697	G	A	G4797697A	ROGDI	NM_024589.3(ROGDI):c.822+17C>T	noncoding	Benign
16	4797750	G	C	G4797750C	ROGDI	NM_024589.3(ROGDI):c.786C>G:p.Thr262=	coding	Benign
16	4797908	T	C	T4797908C	ROGDI	NM_024589.3(ROGDI):c.695+30A>G	noncoding	Benign
16	4798103	G	A	G4798103A	ROGDI	NM_024589.3(ROGDI):c.613C>T:p.Gln205Ter	coding	Pathogenic
16	4798493	C	G	C4798493G	ROGDI	NM_024589.3(ROGDI):c.531+76G>C	noncoding	Benign
16	4799716	G	T	G4799716T	ROGDI	NM_024589.3(ROGDI):c.402C>A:p.Tyr134Ter	coding	Pathogenic
16	4801272	G	A	G4801272A	ROGDI	NM_024589.3(ROGDI):c.250C>T:p.Gln84Ter	coding	Pathogenic
16	4801598	G	C	G4801598C	ROGDI	NM_024589.3(ROGDI):c.118-13C>G	noncoding	Benign/Likely_benign
16	4802396	G	A	G4802396A	ROGDI	NM_024589.3(ROGDI):c.103C>T:p.Gln35Ter	coding	Pathogenic
16	4802447	C	A	C4802447A	ROGDI	NM_024589.3(ROGDI):c.52G>T:p.Glu18Ter	coding	Pathogenic
16	4802508	G	C	G4802508C	ROGDI	NM_024589.3(ROGDI):c.45+19C>G	noncoding	Benign
16	4803091	T	C	T4803091C	ROGDI	Single_allele	noncoding	Benign
16	4803100	C	T	C4803100T	ROGDI	Single_allele	noncoding	Benign
16	5071691	C	A	C5071691A	ALG1	Single_allele	noncoding	Benign
16	5071857	C	A	C5071857A	ALG1	NM_019109.5(ALG1):c.8C>A:p.Ala3Asp	coding	Benign
16	5072680	C	G	C5072680G	ALG1	NM_019109.5(ALG1):c.209-271C>G	noncoding	Benign
16	5072767	T	G	T5072767G	ALG1	NM_019109.5(ALG1):c.209-184T>G	noncoding	Benign
16	5072783	C	G	C5072783G	ALG1	NM_019109.5(ALG1):c.209-168C>G	noncoding	Benign
16	5072878	G	T	G5072878T	ALG1	NM_019109.5(ALG1):c.209-73G>T	noncoding	Benign
16	5072879	C	T	C5072879T	ALG1	NM_019109.5(ALG1):c.209-72C>T	noncoding	Benign
16	5072954	C	T	C5072954T	ALG1	NM_019109.5(ALG1):c.212C>T:p.Ser71Phe	coding	Pathogenic
16	5073175	C	G	C5073175G	ALG1	NM_019109.5(ALG1):c.309C>G:p.Tyr103Ter	coding	Pathogenic
16	5073473	A	G	A5073473G	ALG1	NM_019109.5(ALG1):c.390+217A>G	noncoding	Benign
16	5075364	C	T	C5075364T	ALG1	NM_019109.5(ALG1):c.391-24C>T	noncoding	Benign
16	5077334	T	A	T5077334A	ALG1	NM_019109.5(ALG1):c.540-111T>A	noncoding	Benign
16	5077503	C	T	C5077503T	ALG1	NM_019109.5(ALG1):c.598C>T:p.Arg200Ter	coding	Pathogenic
16	5077526	G	A	G5077526A	ALG1	NM_019109.5(ALG1):c.621G>A:p.Trp207Ter	coding	Pathogenic
16	5077554	C	T	C5077554T	ALG1	NM_019109.5(ALG1):c.629+20C>T	noncoding	Benign/Likely_benign
16	5077720	G	T	G5077720T	ALG1	NM_019109.5(ALG1):c.629+186G>T	noncoding	Benign
16	5077852	G	A	G5077852A	ALG1	NM_019109.5(ALG1):c.630-55G>A	noncoding	Benign
16	5077888	C	T	C5077888T	ALG1	NM_019109.5(ALG1):c.630-19C>T	noncoding	Benign
16	5078646	T	C	T5078646C	ALG1	NM_019109.5(ALG1):c.741-111T>C	noncoding	Benign
16	5078837	G	A	G5078837A	ALG1	NM_019109.5(ALG1):c.821G>A:p.Arg274His	coding	Benign
16	5078839	G	T	G5078839T	ALG1	NM_019109.5(ALG1):c.823G>T:p.Glu275Ter	coding	Pathogenic/Likely_pathogenic
16	5078857	G	T	G5078857T	ALG1	NM_019109.5(ALG1):c.841G>T:p.Val281Phe	coding	Pathogenic
16	5078901	T	C	T5078901C	ALG1	NM_019109.5(ALG1):c.862+23T>C	noncoding	Benign
16	5078980	G	A	G5078980A	ALG1	NM_019109.5(ALG1):c.863-84G>A	noncoding	Benign
16	5078994	C	T	C5078994T	ALG1	NM_019109.5(ALG1):c.863-70C>T	noncoding	Benign
16	5079173	C	T	C5079173T	ALG1	NM_019109.5(ALG1):c.901+71C>T	noncoding	Benign
16	5079348	G	C	G5079348C	ALG1	NM_019109.5(ALG1):c.901+246G>C	noncoding	Benign
16	5079728	G	A	G5079728A	ALG1	NM_019109.5(ALG1):c.902-20G>A	noncoding	Benign/Likely_benign
16	5079891	T	C	T5079891C	ALG1	NM_019109.5(ALG1):c.961+84T>C	noncoding	Benign
16	5079978	C	T	C5079978T	ALG1	NM_019109.5(ALG1):c.961+171C>T	noncoding	Benign
16	5081098	C	G	C5081098G	ALG1	NM_019109.5(ALG1):c.1072+42C>G	noncoding	Benign
16	5081107	C	G	C5081107G	ALG1	NM_019109.5(ALG1):c.1072+51C>G	noncoding	Benign
16	5081183	G	C	G5081183C	ALG1	NM_019109.5(ALG1):c.1072+127G>C	noncoding	Benign
16	5082471	C	T	C5082471T	ALG1	NM_019109.5(ALG1):c.1073-88C>T	noncoding	Benign
16	5082557	A	G	A5082557G	ALG1	NM_019109.5(ALG1):c.1073-2A>G	noncoding	Pathogenic
16	5082583	T	A	T5082583A	ALG1	NM_019109.5(ALG1):c.1097T>A:p.Leu366Gln	coding	Pathogenic
16	5082668	C	G	C5082668G	ALG1	NM_019109.5(ALG1):c.1182C>G:p.Phe394Leu	coding	Pathogenic
16	5082784	G	A	G5082784A	ALG1	NM_019109.5(ALG1):c.1187+111G>A	noncoding	Benign
16	5083605	G	T	G5083605T	ALG1	NM_019109.5(ALG1):c.1188-77G>T	noncoding	Benign
16	5084445	A	G	A5084445G	ALG1	NM_019109.5(ALG1):c.1264-305A>G	coding	Benign
16	5084499	C	T	C5084499T	ALG1	NM_019109.5(ALG1):c.1264-251C>T	coding	Benign
16	5084798	C	T	C5084798T	ALG1	NM_019109.5(ALG1):c.1312C>T:p.Arg438Trp	coding	Pathogenic
16	7518189	C	T	C7518189T	RBFOX1	NM_018723.4(RBFOX1):c.70C>T:p.Pro24Ser	coding	Benign
16	7676755	A	G	A7676755G	RBFOX1	NM_018723.4(RBFOX1):c.931-19A>G	noncoding	Benign
16	7709037	A	C	A7709037C	RBFOX1	NM_018723.4(RBFOX1):c.996-19A>C	noncoding	Benign
16	8735858	T	C	T8735858C	ABAT	NM_020686.6(ABAT):c.70+49T>C	noncoding	Benign
16	8757910	C	T	C8757910T	ABAT	NM_020686.6(ABAT):c.366+104C>T	noncoding	Benign
16	8764718	G	A	G8764718A	ABAT	NM_020686.6(ABAT):c.448-20G>A	noncoding	Benign
16	8768355	C	T	C8768355T	ABAT	NM_020686.6(ABAT):c.667+99C>T	noncoding	Benign
16	8768735	T	C	T8768735C	ABAT	NM_020686.6(ABAT):c.668-90T>C	noncoding	Benign
16	8768991	C	T	C8768991T	ABAT	NM_020686.6(ABAT):c.816+18C>T	noncoding	Benign
16	8772933	C	T	C8772933T	ABAT	NM_020686.6(ABAT):c.954+16C>T	noncoding	Benign/Likely_benign
16	8779487	C	T	C8779487T	ABAT	NM_020686.6(ABAT):c.1278C>T:p.Tyr426=	coding	Benign
16	8779636	C	T	C8779636T	ABAT	NM_020686.6(ABAT):c.1381+46C>T	noncoding	Benign
16	8797584	C	A	C8797584A	PMM2	NM_015421.4(TMEM186):c.3+28G>T	noncoding	Benign
16	8797585	C	T	C8797585T	PMM2	NM_015421.4(TMEM186):c.3+27G>A	noncoding	Benign/Likely_benign
16	8797592	C	A	C8797592A	PMM2	NM_015421.4(TMEM186):c.3+20G>T	noncoding	Benign/Likely_benign
16	8797883	A	G	A8797883G	PMM2	NM_000303.3(PMM2):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
16	8797935	C	G	C8797935G	PMM2	NM_000303.3(PMM2):c.53C>G:p.Thr18Ser	coding	Pathogenic/Likely_pathogenic
16	8797943	C	G	C8797943G	PMM2	NM_000303.3(PMM2):c.61C>G:p.Arg21Gly	coding	Pathogenic
16	8798128	G	C	G8798128C	PMM2	NM_000303.3(PMM2):c.66+180G>C	noncoding	Benign
16	8798157	C	T	C8798157T	PMM2	NM_000303.3(PMM2):c.66+209C>T	noncoding	Benign
16	8801499	A	T	A8801499T	PMM2	NM_000303.3(PMM2):c.67-300A>T	noncoding	Benign
16	8802209	G	C	G8802209C	PMM2	NM_000303.3(PMM2):c.178+299G>C	noncoding	Benign
16	8802237	G	A	G8802237A	PMM2	NM_000303.3(PMM2):c.178+327G>A	noncoding	Benign
16	8804601	A	G	A8804601G	PMM2	NM_000303.3(PMM2):c.179-166A>G	noncoding	Benign
16	8804954	A	T	A8804954T	PMM2	NM_000303.3(PMM2):c.255+111A>T	noncoding	Benign
16	8810978	C	T	C8810978T	PMM2	NM_000303.3(PMM2):c.348-101C>T	noncoding	Benign
16	8811099	G	A	G8811099A	PMM2	NM_000303.3(PMM2):c.368G>A:p.Arg123Gln	coding	Pathogenic/Likely_pathogenic
16	8811152	C	T	C8811152T	PMM2	NM_000303.3(PMM2):c.421C>T:p.Arg141Cys	coding	Pathogenic/Likely_pathogenic
16	8811641	G	T	G8811641T	PMM2	NM_000303.3(PMM2):c.451G>T:p.Glu151Ter	coding	Pathogenic
16	8812682	C	A	C8812682A	PMM2	NM_000303.3(PMM2):c.524-309C>A	noncoding	Benign
16	8812716	C	T	C8812716T	PMM2	NM_000303.3(PMM2):c.524-275C>T	noncoding	Benign
16	8813023	G	A	G8813023A	PMM2	NM_000303.3(PMM2):c.556G>A:p.Gly186Arg	coding	Pathogenic
16	8813107	G	A	G8813107A	PMM2	NM_000303.3(PMM2):c.639+1G>A	coding	Pathogenic/Likely_pathogenic
16	8813125	G	C	G8813125C	PMM2	NM_000303.3(PMM2):c.639+19G>C	noncoding	Benign/Likely_benign
16	8813168	C	T	C8813168T	PMM2	NM_000303.3(PMM2):c.639+62C>T	noncoding	Benign
16	8813288	G	T	G8813288T	PMM2	NM_000303.3(PMM2):c.639+182G>T	noncoding	Benign
16	8832168	A	C	A8832168C	PMM2	NM_000303.3(PMM2):c.640-15556A>C	noncoding	Benign
16	8847711	C	T	C8847711T	PMM2	NM_000303.3(PMM2):c.640-13C>T	noncoding	Benign/Likely_benign
16	8847797	G	C	G8847797C	PMM2	NM_000303.3(PMM2):c.713G>C:p.Arg238Pro	coding	Pathogenic/Likely_pathogenic
16	8847842	G	A	G8847842A	PMM2	NM_000303.3(PMM2):c.*17G>A	noncoding	Benign/Likely_benign
16	8884346	G	A	G8884346A	LITAFD	Single_allele	noncoding	Benign
16	8894843	G	A	G8894843A	USP7	NM_003470.3(USP7):c.3052C>T:p.Arg1018Ter	coding	Pathogenic
16	8895755	A	C	A8895755C	USP7	NM_003470.3(USP7):c.2820-14T>G	noncoding	Benign
16	8898575	G	A	G8898575A	USP7	NM_003470.3(USP7):c.2596C>T:p.Gln866Ter	coding	Pathogenic/Likely_pathogenic
16	8898658	T	C	T8898658C	USP7	NM_003470.3(USP7):c.2532-19A>G	noncoding	Benign
16	8902070	G	A	G8902070A	USP7	NM_003470.3(USP7):c.2047+12C>T	noncoding	Benign
16	8905281	T	C	T8905281C	USP7	NM_003470.3(USP7):c.1479A>G:p.Ala493=	coding	Benign
16	8915429	A	G	A8915429G	USP7	NM_003470.3(USP7):c.987+16T>C	noncoding	Benign
16	8936595	G	A	G8936595A	USP7	NM_003470.3(USP7):c.80-6198C>T	coding	Benign
16	9763360	G	A	G9763360A	GRIN2A	NM_001134407.3(GRIN2A):c.4184C>T:p.Ala1395Val	coding	Benign
16	9764076	T	A	T9764076A	GRIN2A	NM_001134407.3(GRIN2A):c.3468A>T:p.Glu1156Asp	coding	Benign/Likely_benign
16	9764480	G	A	G9764480A	GRIN2A	NM_001134407.3(GRIN2A):c.3064C>T:p.Arg1022Cys	coding	Benign/Likely_benign
16	9769334	T	G	T9769334G	GRIN2A	NM_001134407.3(GRIN2A):c.2357-245A>C	noncoding	Benign
16	9798307	C	A	C9798307A	GRIN2A	NM_001134407.3(GRIN2A):c.2326G>T:p.Asp776Tyr	coding	Pathogenic/Likely_pathogenic
16	9798442	C	T	C9798442T	GRIN2A	NM_001134407.3(GRIN2A):c.2191G>A:p.Asp731Asn	coding	Pathogenic/Likely_pathogenic
16	9798465	C	G	C9798465G	GRIN2A	NM_001134407.3(GRIN2A):c.2169-1G>C	coding	Pathogenic
16	9822363	G	T	G9822363T	GRIN2A	NM_001134407.3(GRIN2A):c.2069C>A:p.Thr690Lys	coding	Pathogenic/Likely_pathogenic
16	9829599	G	T	G9829599T	GRIN2A	NM_001134407.3(GRIN2A):c.1831C>A:p.Leu611Met	coding	Pathogenic
16	9829603	C	T	C9829603T	GRIN2A	NM_001134407.3(GRIN2A):c.1827G>A:p.Trp609Ter	coding	Pathogenic
16	9829613	C	T	C9829613T	GRIN2A	NM_001134407.3(GRIN2A):c.1817G>A:p.Trp606Ter	coding	Pathogenic
16	9833969	G	T	G9833969T	GRIN2A	NM_001134407.3(GRIN2A):c.1777+136C>A	noncoding	Benign
16	9834099	C	A	C9834099A	GRIN2A	NM_001134407.3(GRIN2A):c.1777+6G>T	noncoding	Benign/Likely_benign
16	9834221	C	G	C9834221G	GRIN2A	NM_001134407.3(GRIN2A):c.1661G>C:p.Ser554Thr	coding	Pathogenic
16	9840706	G	A	G9840706A	GRIN2A	NM_001134407.3(GRIN2A):c.1592C>T:p.Thr531Met	coding	Pathogenic/Likely_pathogenic
16	9840746	G	A	G9840746A	GRIN2A	NM_001134407.3(GRIN2A):c.1552C>T:p.Arg518Cys	coding	Pathogenic/Likely_pathogenic
16	9840788	G	A	G9840788A	GRIN2A	NM_001134407.3(GRIN2A):c.1510C>T:p.Arg504Trp	coding	Pathogenic/Likely_pathogenic
16	9840935	C	A	C9840935A	GRIN2A	NM_001134407.3(GRIN2A):c.1497+1G>T	noncoding	Pathogenic/Likely_pathogenic
16	9841008	G	C	G9841008C	GRIN2A	NM_001134407.3(GRIN2A):c.1425C>G:p.Tyr475Ter	coding	Pathogenic
16	9841249	C	G	C9841249G	GRIN2A	NM_001134407.3(GRIN2A):c.1329-145G>C	noncoding	Benign
16	9849806	G	C	G9849806C	GRIN2A	NM_001134407.3(GRIN2A):c.1278C>G:p.Thr426=	coding	Benign
16	9849943	G	A	G9849943A	GRIN2A	NM_001134407.3(GRIN2A):c.1141C>T:p.His381Tyr	coding	Benign/Likely_benign
16	9849950	C	T	C9849950T	GRIN2A	NM_001134407.3(GRIN2A):c.1134G>A:p.Trp378Ter	coding	Pathogenic
16	9890970	A	T	A9890970T	GRIN2A	NM_001134407.3(GRIN2A):c.1122+16T>A	noncoding	Benign/Likely_benign
16	9890993	C	T	C9890993T	GRIN2A	NM_001134407.3(GRIN2A):c.1115G>A:p.Trp372Ter	coding	Pathogenic
16	9937976	C	T	C9937976T	GRIN2A	NM_001134407.3(GRIN2A):c.990G>A:p.Pro330=	coding	Benign/Likely_benign
16	9938024	G	A	G9938024A	GRIN2A	NM_001134407.3(GRIN2A):c.942C>T:p.Pro314=	coding	Benign/Likely_benign
16	9938027	G	A	G9938027A	GRIN2A	NM_001134407.3(GRIN2A):c.939C>T:p.Ile313=	coding	Benign/Likely_benign
16	9938156	T	C	T9938156C	GRIN2A	NM_001134407.3(GRIN2A):c.810A>G:p.Lys270=	coding	Benign
16	9938373	C	T	C9938373T	GRIN2A	NM_001134407.3(GRIN2A):c.593G>A:p.Trp198Ter	coding	Pathogenic
16	9938506	G	A	G9938506A	GRIN2A	NM_001134407.3(GRIN2A):c.460C>T:p.Gln154Ter	coding	Pathogenic
16	9976882	G	T	G9976882T	GRIN2A	NM_001134407.3(GRIN2A):c.415-38331C>A	noncoding	Benign
16	9977038	A	G	A9977038G	GRIN2A	NM_001134407.3(GRIN2A):c.415-38487T>C	noncoding	Benign
16	9977213	G	A	G9977213A	GRIN2A	NM_001134407.3(GRIN2A):c.415-38662C>T	noncoding	Benign
16	10002158	C	A	C10002158A	GRIN2A	NM_001134407.3(GRIN2A):c.415-63607G>T	noncoding	Benign
16	10181841	C	T	C10181841T	GRIN2A	NM_001134407.3(GRIN2A):c.-19+36G>A	noncoding	Benign
16	10532733	C	G	C10532733G	EMP2	NM_001424.6(EMP2):c.*172G>C	noncoding	Benign
16	10532764	T	C	T10532764C	EMP2	NM_001424.6(EMP2):c.*141A>G	noncoding	Benign
16	10532774	T	C	T10532774C	EMP2	NM_001424.6(EMP2):c.*131A>G	noncoding	Benign
16	10538055	C	T	C10538055T	EMP2	NM_001424.6(EMP2):c.189G>A:p.Ala63=	coding	Benign
16	10538064	C	T	C10538064T	EMP2	NM_001424.6(EMP2):c.180G>A:p.Thr60=	coding	Benign
16	10538128	T	C	T10538128C	EMP2	NM_001424.6(EMP2):c.170-54A>G	noncoding	Benign
16	10538225	C	T	C10538225T	EMP2	NM_001424.6(EMP2):c.170-151G>A	noncoding	Benign
16	10538272	T	C	T10538272C	EMP2	NM_001424.6(EMP2):c.170-198A>G	noncoding	Benign
16	10538308	C	T	C10538308T	EMP2	NM_001424.6(EMP2):c.170-234G>A	noncoding	Benign
16	10538356	C	T	C10538356T	EMP2	NM_001424.6(EMP2):c.170-282G>A	noncoding	Benign
16	10543561	C	G	C10543561G	EMP2	NM_001424.6(EMP2):c.169+9G>C	noncoding	Benign
16	10543588	T	C	T10543588C	EMP2	NM_001424.6(EMP2):c.151A>G:p.Ile51Val	coding	Benign/Likely_benign
16	10543751	A	G	A10543751G	EMP2	NM_001424.6(EMP2):c.79-91T>C	noncoding	Benign
16	10543804	G	A	G10543804A	EMP2	NM_001424.6(EMP2):c.79-144C>T	noncoding	Benign
16	10543833	G	A	G10543833A	EMP2	NM_001424.6(EMP2):c.79-173C>T	noncoding	Benign
16	10547490	T	C	T10547490C	EMP2	NM_001424.6(EMP2):c.78+50A>G	noncoding	Benign
16	10877045	G	A	G10877045A	CIITA	NC_000016.9:g.10970902G>A	noncoding	Benign
16	10877366	C	A	C10877366A	CIITA	NM_000246.4(CIITA):c.36C>A:p.Tyr12Ter	coding	Pathogenic
16	10895270	C	T	C10895270T	CIITA	NM_000246.4(CIITA):c.53-12C>T	noncoding	Benign/Likely_benign
16	10895517	C	T	C10895517T	CIITA	NM_000246.4(CIITA):c.199+89C>T	noncoding	Benign
16	10898650	G	A	G10898650A	CIITA	NM_000246.4(CIITA):c.296-20G>A	noncoding	Benign
16	10898858	T	G	T10898858G	CIITA	NM_000246.4(CIITA):c.359-67T>G	noncoding	Benign
16	10901993	G	T	G10901993T	CIITA	NM_000246.4(CIITA):c.482-45G>T	noncoding	Benign
16	10902087	C	T	C10902087T	CIITA	NM_000246.4(CIITA):c.531C>T:p.Ser177=	coding	Benign
16	10902542	C	A	C10902542A	CIITA	NM_000246.4(CIITA):c.629-116C>A	noncoding	Benign
16	10902711	C	T	C10902711T	CIITA	NM_000246.4(CIITA):c.682C>T:p.Gln228Ter	coding	Pathogenic
16	10902813	G	A	G10902813A	CIITA	NM_000246.4(CIITA):c.772+12G>A	noncoding	Benign
16	10902825	G	A	G10902825A	CIITA	NM_000246.4(CIITA):c.772+24G>A	noncoding	Benign
16	10903713	T	G	T10903713G	CIITA	NM_000246.4(CIITA):c.773-18T>G	noncoding	Benign
16	10903915	G	A	G10903915A	CIITA	NM_000246.4(CIITA):c.937+20G>A	noncoding	Benign
16	10904625	T	C	T10904625C	CIITA	NM_000246.4(CIITA):c.938-119T>C	noncoding	Benign
16	10906732	C	T	C10906732T	CIITA	NM_000246.4(CIITA):c.1240C>T:p.Arg414Ter	coding	Pathogenic
16	10906881	T	G	T10906881G	CIITA	NM_000246.4(CIITA):c.1389T>G:p.Tyr463Ter	coding	Pathogenic
16	10907209	C	T	C10907209T	CIITA	NM_000246.4(CIITA):c.1717C>T:p.Gln573Ter	coding	Pathogenic
16	10907506	C	T	C10907506T	CIITA	NM_000246.4(CIITA):c.2014C>T:p.Gln672Ter	coding	Pathogenic
16	10907971	C	T	C10907971T	CIITA	NM_000246.4(CIITA):c.2479C>T:p.Gln827Ter	coding	Pathogenic
16	10909111	A	T	A10909111T	CIITA	NM_000246.4(CIITA):c.2740A>T:p.Lys914Ter	coding	Pathogenic
16	10909244	G	A	G10909244A	CIITA	NM_000246.4(CIITA):c.2816+57G>A	noncoding	Benign
16	10910293	C	T	C10910293T	CIITA	NM_000246.4(CIITA):c.2888+34C>T	noncoding	Benign
16	10915730	C	A	C10915730A	CIITA	NM_000246.4(CIITA):c.2969+80C>A	noncoding	Benign
16	10916293	G	T	G10916293T	CIITA	NM_000246.4(CIITA):c.2970-74G>T	noncoding	Benign
16	10916473	G	T	G10916473T	CIITA	NM_000246.4(CIITA):c.3062+14G>T	noncoding	Benign
16	10923201	G	A	G10923201A	CIITA	NM_000246.4(CIITA):c.3318-27G>A	noncoding	Benign
16	10923271	C	T	C10923271T	CIITA	NM_000246.4(CIITA):c.3361C>T:p.Gln1121Ter	coding	Pathogenic
16	11255019	A	G	A11255019G	SOCS1	NM_003745.2(SOCS1):c.460T>C:p.Tyr154His	coding	Pathogenic/Likely_pathogenic
16	11255111	G	C	G11255111C	SOCS1	NM_003745.2(SOCS1):c.368C>G:p.Pro123Arg	coding	Pathogenic/Likely_pathogenic
16	11255415	G	A	G11255415A	SOCS1	NM_003745.2(SOCS1):c.64C>T:p.Arg22Trp	coding	Pathogenic/Likely_pathogenic
16	11273297	C	T	C11273297T	PRM3	NM_021247.3(PRM3):c.299G>A:p.Arg100Gln	coding	Benign
16	11273338	G	C	G11273338C	PRM3	NM_021247.3(PRM3):c.258C>G:p.His86Gln	coding	Benign
16	11273620	G	A	G11273620A	PRM3	NM_021247.3(PRM3):c.-25C>T	noncoding	Benign
16	11275571	C	T	C11275571T	PRM2	Single_allele	noncoding	Benign
16	11275998	G	T	G11275998T	PRM2	NM_002762.4(PRM2):c.272-61C>A	noncoding	Benign
16	11276073	C	G	C11276073G	PRM2	NM_002762.4(PRM2):c.271+27G>C	coding	Benign
16	11276596	C	T	C11276596T	PRM2	Single_allele	noncoding	Benign
16	11276741	C	G	C11276741G	PRM2	Single_allele	noncoding	Benign
16	11276759	G	A	G11276759A	PRM2	Single_allele	noncoding	Benign
16	11281009	G	T	G11281009T	PRM1	NM_002761.3(PRM1):c.139C>A:p.Arg47=	coding	Benign
16	11281429	G	T	G11281429T	PRM1	Single_allele	noncoding	Benign
16	11549720	G	T	G11549720T	LITAF	NM_001136472.2(LITAF):c.403C>A:p.Pro135Thr	coding	Pathogenic
16	11549775	G	A	G11549775A	LITAF	NM_001136472.2(LITAF):c.378-30C>T	noncoding	Benign
16	11549871	G	A	G11549871A	LITAF	NM_001136472.2(LITAF):c.378-126C>T	noncoding	Benign
16	11551976	G	A	G11551976A	LITAF	NM_001136472.2(LITAF):c.377+1557C>T	noncoding	Benign
16	11553520	G	C	G11553520C	LITAF	NM_001136472.2(LITAF):c.377+13C>G	noncoding	Benign/Likely_benign
16	11553820	G	A	G11553820A	LITAF	NM_001136472.2(LITAF):c.221-131C>T	noncoding	Benign
16	11553890	C	T	C11553890T	LITAF	NM_001136472.2(LITAF):c.221-201G>A	noncoding	Benign
16	11556235	A	T	A11556235T	LITAF	NM_001136472.2(LITAF):c.220+276T>A	noncoding	Benign
16	11585967	T	C	T11585967C	LITAF	NM_001136472.2(LITAF):c.-6+919A>G	noncoding	Benign
16	11586412	A	G	A11586412G	LITAF	NM_001136472.2(LITAF):c.-6+474T>C	noncoding	Benign
16	13919809	A	C	A13919809C	ERCC4	NC_000016.9:g.14013666A>C	noncoding	Benign
16	13920136	T	A	T13920136A	ERCC4	Single_allele	noncoding	Benign
16	13920187	C	T	C13920187T	ERCC4	NM_005236.3(ERCC4):c.22C>T:p.Arg8Ter	coding	Pathogenic
16	13920223	C	T	C13920223T	ERCC4	NM_005236.3(ERCC4):c.58C>T:p.Arg20Ter	coding	Pathogenic
16	13920421	G	A	G13920421A	ERCC4	NM_005236.3(ERCC4):c.207+49G>A	noncoding	Benign
16	13921720	C	G	C13921720G	ERCC4	NM_005236.3(ERCC4):c.208-311C>G	noncoding	Benign
16	13926361	G	A	G13926361A	ERCC4	NM_005236.3(ERCC4):c.389-200G>A	noncoding	Benign
16	13926525	C	G	C13926525G	ERCC4	NM_005236.3(ERCC4):c.389-36C>G	noncoding	Benign
16	13926751	G	A	G13926751A	ERCC4	NM_005236.3(ERCC4):c.579G>A:p.Trp193Ter	coding	Pathogenic
16	13930550	C	T	C13930550T	ERCC4	NM_005236.3(ERCC4):c.793-160C>T	noncoding	Benign
16	13930697	A	T	A13930697T	ERCC4	NM_005236.3(ERCC4):c.793-13A>T	noncoding	Benign
16	13931854	T	G	T13931854G	ERCC4	NM_005236.3(ERCC4):c.974-303T>G	noncoding	Benign
16	13932035	C	A	C13932035A	ERCC4	NM_005236.3(ERCC4):c.974-122C>A	noncoding	Benign
16	13932504	G	A	G13932504A	ERCC4	NM_005236.3(ERCC4):c.1102+219G>A	noncoding	Benign
16	13932522	C	G	C13932522G	ERCC4	NM_005236.3(ERCC4):c.1102+237C>G	noncoding	Benign
16	13932592	G	A	G13932592A	ERCC4	NM_005236.3(ERCC4):c.1102+307G>A	noncoding	Benign
16	13933875	C	T	C13933875T	ERCC4	NM_005236.3(ERCC4):c.1103-317C>T	noncoding	Benign
16	13933881	C	G	C13933881G	ERCC4	NM_005236.3(ERCC4):c.1103-311C>G	noncoding	Benign
16	13934102	T	C	T13934102C	ERCC4	NM_005236.3(ERCC4):c.1103-90T>C	noncoding	Benign
16	13934522	G	A	G13934522A	ERCC4	NM_005236.3(ERCC4):c.1213+220G>A	noncoding	Benign
16	13935183	T	A	T13935183A	ERCC4	NM_005236.3(ERCC4):c.1251T>A:p.Cys417Ter	coding	Pathogenic
16	13935977	G	A	G13935977A	ERCC4	NM_005236.3(ERCC4):c.1811+234G>A	noncoding	Benign
16	13937663	G	A	G13937663A	ERCC4	NM_005236.3(ERCC4):c.1812-103G>A	noncoding	Benign
16	13938014	A	C	A13938014C	ERCC4	NM_005236.3(ERCC4):c.1904+156A>C	noncoding	Benign
16	13944482	T	C	T13944482C	ERCC4	NM_005236.3(ERCC4):c.1905-241T>C	noncoding	Benign
16	13944688	T	C	T13944688C	ERCC4	NM_005236.3(ERCC4):c.1905-35T>C	noncoding	Benign
16	13944695	G	A	G13944695A	ERCC4	NM_005236.3(ERCC4):c.1905-28G>A	noncoding	Benign
16	13945058	G	A	G13945058A	ERCC4	NM_005236.3(ERCC4):c.2017+223G>A	noncoding	Benign
16	13947765	C	A	C13947765A	ERCC4	NM_005236.3(ERCC4):c.2169C>A:p.Cys723Ter	coding	Pathogenic
16	14436869	G	A	G14436869A	PARN	NM_002582.4(PARN):c.1865-97C>T	noncoding	Benign
16	14482621	C	A	C14482621A	PARN	NM_002582.4(PARN):c.1670+17G>T	noncoding	Benign
16	14482684	G	A	G14482684A	PARN	NM_002582.4(PARN):c.1624C>T:p.Gln542Ter	coding	Pathogenic
16	14551992	T	C	T14551992C	PARN	NM_002582.4(PARN):c.1480+29A>G	noncoding	Benign
16	14552239	C	A	C14552239A	PARN	NM_002582.4(PARN):c.1406-144G>T	noncoding	Benign
16	14555769	C	T	C14555769T	PARN	NM_002582.4(PARN):c.1263-60G>A	noncoding	Benign
16	14581061	T	C	T14581061C	PARN	NM_002582.4(PARN):c.1193-118A>G	noncoding	Benign
16	14582086	C	G	C14582086G	PARN	NM_002582.4(PARN):c.1192+95G>C	noncoding	Benign
16	14582250	G	A	G14582250A	PARN	NM_002582.4(PARN):c.1123C>T:p.Gln375Ter	coding	Pathogenic
16	14582304	A	T	A14582304T	PARN	NM_002582.4(PARN):c.1082-13T>A	noncoding	Benign
16	14584424	T	C	T14584424C	PARN	NM_002582.4(PARN):c.1006-2A>G	noncoding	Pathogenic/Likely_pathogenic
16	14584434	G	A	G14584434A	PARN	NM_002582.4(PARN):c.1006-12C>T	noncoding	Benign
16	14584776	T	C	T14584776C	PARN	NM_002582.4(PARN):c.978A>G:p.Lys326=	coding	Benign/Likely_benign
16	14586364	A	G	A14586364G	PARN	NM_002582.4(PARN):c.919-3T>C	noncoding	Benign
16	14593287	A	G	A14593287G	PARN	NM_002582.4(PARN):c.918+14T>C	noncoding	Benign
16	14617596	G	A	G14617596A	PARN	NM_002582.4(PARN):c.382C>T:p.Arg128Ter	coding	Pathogenic
16	14627249	C	T	C14627249T	PARN	NM_002582.4(PARN):c.245+20G>A	noncoding	Benign
16	15664832	G	A	G15664832A	NDE1	NM_017668.3(NDE1):c.54G>A:p.Trp18Ter	coding	Pathogenic
16	15667542	C	G	C15667542G	NDE1	NM_017668.3(NDE1):c.237+103C>G	noncoding	Benign
16	15667632	G	T	G15667632T	NDE1	NM_017668.3(NDE1):c.237+193G>T	noncoding	Benign
16	15667634	T	G	T15667634G	NDE1	NM_017668.3(NDE1):c.237+195T>G	noncoding	Benign
16	15677990	C	G	C15677990G	NDE1	NM_017668.3(NDE1):c.386+41C>G	noncoding	Benign
16	15678094	G	A	G15678094A	NDE1	NM_017668.3(NDE1):c.386+145G>A	noncoding	Benign
16	15714999	T	C	T15714999C	MYH11	NM_002474.3(MYH11):c.5696A>G:p.Asn1899Ser	coding	Benign/Likely_benign
16	15715178	G	A	G15715178A	MYH11	NM_002474.3(MYH11):c.5599C>T:p.Gln1867Ter	coding	Pathogenic
16	15717571	A	G	A15717571G	MYH11	NM_017668.3(NDE1):c.948-6620A>G	noncoding	Benign
16	15718422	C	A	C15718422A	MYH11	NM_002474.3(MYH11):c.5188G>T:p.Glu1730Ter	coding	Pathogenic
16	15719309	C	T	C15719309T	MYH11	NM_002474.3(MYH11):c.5083-1G>A	coding	Pathogenic/Likely_pathogenic
16	15719541	G	A	G15719541A	MYH11	NM_017668.3(NDE1):c.948-4650G>A	noncoding	Benign
16	15719727	C	G	C15719727G	MYH11	NM_017668.3(NDE1):c.948-4464C>G	noncoding	Benign/Likely_benign
16	15721026	C	T	C15721026T	MYH11	NM_002474.3(MYH11):c.4604G>A:p.Arg1535Gln	coding	Benign/Likely_benign
16	15724790	G	C	G15724790C	MYH11	NM_002474.3(MYH11):c.3973C>G:p.Gln1325Glu	coding	Benign/Likely_benign
16	15732553	A	C	A15732553C	MYH11	NM_002474.3(MYH11):c.3651+11T>G	noncoding	Benign
16	15732617	T	A	T15732617A	MYH11	NM_002474.3(MYH11):c.3598A>T:p.Lys1200Ter	coding	Pathogenic/Likely_pathogenic
16	15735726	A	T	A15735726T	MYH11	NM_002474.3(MYH11):c.3294-148T>A	noncoding	Benign
16	15737465	G	A	G15737465A	MYH11	NM_002474.3(MYH11):c.3277C>T:p.Gln1093Ter	coding	Pathogenic
16	15737574	C	T	C15737574T	MYH11	NM_002474.3(MYH11):c.3168G>A:p.Leu1056=	coding	Benign/Likely_benign
16	15739749	T	G	T15739749G	MYH11	NM_002474.3(MYH11):c.2997+302A>C	noncoding	Benign
16	15740406	A	C	A15740406C	MYH11	NM_002474.3(MYH11):c.2860-218T>G	noncoding	Benign
16	15741676	G	A	G15741676A	MYH11	NM_002474.3(MYH11):c.2653-7C>T	noncoding	Benign/Likely_benign
16	15745560	G	A	G15745560A	MYH11	NM_002474.3(MYH11):c.2412-323C>T	noncoding	Benign
16	15747670	G	A	G15747670A	MYH11	NM_002474.3(MYH11):c.2311C>T:p.Arg771Ter	coding	Pathogenic
16	15748005	C	T	C15748005T	MYH11	NM_002474.3(MYH11):c.2180+42G>A	noncoding	Benign
16	15748377	T	A	T15748377A	MYH11	NM_002474.3(MYH11):c.2059-209A>T	noncoding	Benign
16	15748463	A	G	A15748463G	MYH11	NM_002474.3(MYH11):c.2059-295T>C	noncoding	Benign
16	15750101	C	T	C15750101T	MYH11	NM_002474.3(MYH11):c.2058+37G>A	noncoding	Benign
16	15750108	G	A	G15750108A	MYH11	NM_002474.3(MYH11):c.2058+30C>T	noncoding	Benign
16	15753509	C	T	C15753509T	MYH11	NM_002474.3(MYH11):c.1750-1G>A	coding	Pathogenic
16	15756241	T	G	T15756241G	MYH11	NM_002474.3(MYH11):c.1749+100A>C	noncoding	Benign
16	15756531	G	A	G15756531A	MYH11	NM_002474.3(MYH11):c.1576-17C>T	noncoding	Benign
16	15757615	A	T	A15757615T	MYH11	NM_002474.3(MYH11):c.1575+212T>A	noncoding	Benign
16	15757798	G	A	G15757798A	MYH11	NM_002474.3(MYH11):c.1575+29C>T	noncoding	Benign
16	15759268	G	A	G15759268A	MYH11	NM_002474.3(MYH11):c.1401+308C>T	noncoding	Benign
16	15771332	C	A	C15771332A	MYH11	NM_002474.3(MYH11):c.1033+237G>T	noncoding	Benign
16	15771568	C	T	C15771568T	MYH11	NM_002474.3(MYH11):c.1033+1G>A	noncoding	Pathogenic
16	15778891	G	T	G15778891T	MYH11	NM_002474.3(MYH11):c.727-48C>A	noncoding	Benign
16	15784602	C	G	C15784602G	MYH11	NM_002474.3(MYH11):c.633+2028G>C	noncoding	Benign
16	15784610	G	A	G15784610A	MYH11	NM_002474.3(MYH11):c.633+2020C>T	noncoding	Benign
16	15784730	C	T	C15784730T	MYH11	NM_002474.3(MYH11):c.633+1900G>A	noncoding	Benign/Likely_benign
16	15786892	T	C	T15786892C	MYH11	NM_002474.3(MYH11):c.531-160A>G	noncoding	Benign
16	15798557	T	G	T15798557G	MYH11	NM_002474.3(MYH11):c.530+103A>C	noncoding	Benign
16	15798609	A	T	A15798609T	MYH11	NM_002474.3(MYH11):c.530+51T>A	noncoding	Benign
16	15798624	C	A	C15798624A	MYH11	NM_002474.3(MYH11):c.530+36G>T	noncoding	Benign
16	15798640	G	A	G15798640A	MYH11	NM_002474.3(MYH11):c.530+20C>T	noncoding	Benign
16	15823409	C	T	C15823409T	MYH11	NM_002474.3(MYH11):c.348G>A:p.Thr116=	coding	Benign/Likely_benign
16	15823427	C	G	C15823427G	MYH11	NM_002474.3(MYH11):c.346-16G>C	noncoding	Benign/Likely_benign
16	15837754	C	T	C15837754T	MYH11	NM_002474.3(MYH11):c.345+154G>A	noncoding	Benign
16	15837777	T	C	T15837777C	MYH11	NM_002474.3(MYH11):c.345+131A>G	noncoding	Benign
16	15856735	A	G	A15856735G	MYH11	NM_002474.3(MYH11):c.-18+206T>C	noncoding	Benign
16	15856784	G	A	G15856784A	MYH11	NM_002474.3(MYH11):c.-18+157C>T	noncoding	Benign
16	15856790	G	A	G15856790A	MYH11	NM_002474.3(MYH11):c.-18+151C>T	noncoding	Benign
16	15856902	G	C	G15856902C	MYH11	NM_002474.3(MYH11):c.-18+39C>G	noncoding	Benign
16	16048222	G	T	G16048222T	ABCC1	NM_004996.4(ABCC1):c.1299G>T:p.Arg433Ser	coding	Benign
16	16150095	C	T	C16150095T	ABCC6	NM_001171.6(ABCC6):c.*38G>A	noncoding	Benign
16	16150272	T	C	T16150272C	ABCC6	NM_001171.6(ABCC6):c.4404-31A>G	noncoding	Benign
16	16150317	T	C	T16150317C	ABCC6	NM_001171.6(ABCC6):c.4404-76A>G	noncoding	Benign
16	16154824	G	A	G16154824A	ABCC6	NM_001171.6(ABCC6):c.4042-30C>T	noncoding	Benign
16	16155027	C	T	C16155027T	ABCC6	NM_001171.6(ABCC6):c.3887G>A:p.Gly1296Asp	coding	Pathogenic
16	16155055	C	T	C16155055T	ABCC6	NM_001171.6(ABCC6):c.3883-24G>A	noncoding	Benign
16	16157578	G	A	G16157578A	ABCC6	NM_001171.6(ABCC6):c.3882+85C>T	noncoding	Benign
16	16159584	C	A	C16159584A	ABCC6	NM_001171.6(ABCC6):c.3634-1G>T	coding	Pathogenic
16	16161338	T	G	T16161338G	ABCC6	NM_001171.6(ABCC6):c.3633+100A>C	noncoding	Benign
16	16161348	C	T	C16161348T	ABCC6	NM_001171.6(ABCC6):c.3633+90G>A	noncoding	Benign
16	16161383	G	A	G16161383A	ABCC6	NM_001171.6(ABCC6):c.3633+55C>T	noncoding	Benign
16	16161565	C	T	C16161565T	ABCC6	NM_001171.6(ABCC6):c.3507-1G>A	coding	Pathogenic
16	16161567	G	A	G16161567A	ABCC6	NM_001171.6(ABCC6):c.3507-3C>T	noncoding	Benign/Likely_benign
16	16161583	G	A	G16161583A	ABCC6	NM_001171.6(ABCC6):c.3507-19C>T	noncoding	Benign
16	16162910	T	G	T16162910G	ABCC6	NM_001171.6(ABCC6):c.3506+83A>C	noncoding	Benign
16	16163184	A	C	A16163184C	ABCC6	NM_001171.6(ABCC6):c.3315T>G:p.Tyr1105Ter	coding	Pathogenic
16	16165635	G	T	G16165635T	ABCC6	NM_001171.6(ABCC6):c.3294C>A:p.Tyr1098Ter	coding	Pathogenic/Likely_pathogenic
16	16165739	G	A	G16165739A	ABCC6	NM_001171.6(ABCC6):c.3190C>T:p.Arg1064Trp	coding	Benign
16	16165770	G	C	G16165770C	ABCC6	NM_001171.6(ABCC6):c.3159C>G:p.Asp1053Glu	coding	Benign
16	16169659	G	A	G16169659A	ABCC6	NM_001171.6(ABCC6):c.2982C>T:p.Leu994=	coding	Benign
16	16169752	G	T	G16169752T	ABCC6	NM_001171.6(ABCC6):c.2889C>A:p.Cys963Ter	coding	Pathogenic
16	16169793	C	T	C16169793T	ABCC6	NM_001171.6(ABCC6):c.2848G>A:p.Ala950Thr	coding	Benign/Likely_benign
16	16169805	G	T	G16169805T	ABCC6	NM_001171.6(ABCC6):c.2836C>A:p.Leu946Ile	coding	Benign/Likely_benign
16	16169980	T	C	T16169980C	ABCC6	NM_001171.6(ABCC6):c.2788-127A>G	noncoding	Benign
16	16170007	A	G	A16170007G	ABCC6	NM_001171.6(ABCC6):c.2788-154T>C	noncoding	Benign
16	16173222	A	G	A16173222G	ABCC6	NM_001171.6(ABCC6):c.2787+62T>C	noncoding	Benign
16	16173290	G	T	G16173290T	ABCC6	NM_001171.6(ABCC6):c.2781C>A:p.Tyr927Ter	coding	Pathogenic
16	16175713	A	G	A16175713G	ABCC6	NM_001171.6(ABCC6):c.2666+198T>C	noncoding	Benign
16	16175918	G	A	G16175918A	ABCC6	NM_001171.6(ABCC6):c.2659C>T:p.Arg887Cys	coding	Benign
16	16177500	T	C	T16177500C	ABCC6	NM_001171.6(ABCC6):c.2542A>G:p.Met848Val	coding	Benign
16	16177622	C	T	C16177622T	ABCC6	NM_001171.6(ABCC6):c.2420G>A:p.Arg807Gln	coding	Pathogenic/Likely_pathogenic
16	16178813	T	C	T16178813C	ABCC6	NM_001171.6(ABCC6):c.2400A>G:p.Gly800=	coding	Benign
16	16178816	A	C	A16178816C	ABCC6	NM_001171.6(ABCC6):c.2397T>G:p.Gly799=	coding	Benign
16	16178907	C	T	C16178907T	ABCC6	NM_001171.6(ABCC6):c.2306G>A:p.Arg769Lys	coding	Benign
16	16178935	G	A	G16178935A	ABCC6	NM_001171.6(ABCC6):c.2278C>T:p.Arg760Trp	coding	Pathogenic/Likely_pathogenic
16	16182520	G	A	G16182520A	ABCC6	NM_001171.6(ABCC6):c.2139C>T:p.Phe713=	coding	Benign
16	16184838	A	T	A16184838T	ABCC6	NM_001171.6(ABCC6):c.1943+121T>A	noncoding	Benign
16	16185091	C	T	C16185091T	ABCC6	NM_001171.6(ABCC6):c.1868-57G>A	noncoding	Benign
16	16187032	C	T	C16187032T	ABCC6	NM_001171.6(ABCC6):c.1867+92G>A	noncoding	Benign
16	16187038	A	G	A16187038G	ABCC6	NM_001171.6(ABCC6):c.1867+86T>C	noncoding	Benign
16	16187064	T	C	T16187064C	ABCC6	NM_001171.6(ABCC6):c.1867+60A>G	noncoding	Benign
16	16187297	C	A	C16187297A	ABCC6	NM_001171.6(ABCC6):c.1780-86G>T	noncoding	Benign
16	16190116	G	A	G16190116A	ABCC6	NM_001171.6(ABCC6):c.1635+48C>T	noncoding	Benign
16	16190408	T	C	T16190408C	ABCC6	NM_001171.6(ABCC6):c.1432-41A>G	noncoding	Benign
16	16190415	C	T	C16190415T	ABCC6	NM_001171.6(ABCC6):c.1432-48G>A	noncoding	Benign
16	16192757	G	C	G16192757C	ABCC6	NM_001171.6(ABCC6):c.1431+73C>G	noncoding	Benign
16	16192908	G	A	G16192908A	ABCC6	NM_001171.6(ABCC6):c.1353C>T:p.Ser451=	coding	Benign
16	16197959	G	C	G16197959C	ABCC6	NM_001171.6(ABCC6):c.1338+62C>G	noncoding	Benign
16	16198104	G	A	G16198104A	ABCC6	NM_001171.6(ABCC6):c.1255C>T:p.Arg419Trp	coding	Pathogenic
16	16203453	T	C	T16203453C	ABCC6	NM_001171.6(ABCC6):c.955A>G:p.Ile319Val	coding	Benign
16	16208729	T	C	T16208729C	ABCC6	NM_001171.6(ABCC6):c.793A>G:p.Arg265Gly	coding	Benign/Likely_benign
16	16219688	C	T	C16219688T	ABCC6	NM_001171.6(ABCC6):c.346-6G>A	noncoding	Benign
16	16219810	A	G	A16219810G	ABCC6	NM_001171.6(ABCC6):c.345+12T>C	noncoding	Benign
16	16223538	T	C	T16223538C	ABCC6	Single_allele	noncoding	Benign
16	16223561	G	A	G16223561A	ABCC6	Single_allele	noncoding	Benign
16	17108900	C	T	C17108900T	XYLT1	NM_022166.4(XYLT1):c.2675G>A:p.Arg892Gln	coding	Benign
16	17108944	G	A	G17108944A	XYLT1	NM_022166.4(XYLT1):c.2631C>T:p.Pro877=	coding	Benign
16	17109107	T	C	T17109107C	XYLT1	NM_022166.4(XYLT1):c.2558-90A>G	noncoding	Benign
16	17109108	G	A	G17109108A	XYLT1	NM_022166.4(XYLT1):c.2558-91C>T	noncoding	Benign
16	17117377	A	G	A17117377G	XYLT1	NM_022166.4(XYLT1):c.2557+269T>C	noncoding	Benign
16	17117390	T	C	T17117390C	XYLT1	NM_022166.4(XYLT1):c.2557+256A>G	noncoding	Benign
16	17117459	C	T	C17117459T	XYLT1	NM_022166.4(XYLT1):c.2557+187G>A	noncoding	Benign
16	17117688	C	T	C17117688T	XYLT1	NM_022166.4(XYLT1):c.2515G>A:p.Val839Ile	coding	Benign
16	17117845	A	G	A17117845G	XYLT1	NM_022166.4(XYLT1):c.2358T>C:p.Asp786=	coding	Benign
16	17117872	A	G	A17117872G	XYLT1	NM_022166.4(XYLT1):c.2331T>C:p.Asn777=	coding	Benign
16	17117907	G	C	G17117907C	XYLT1	NM_022166.4(XYLT1):c.2296C>G:p.Pro766Ala	coding	Benign
16	17117991	G	A	G17117991A	XYLT1	NM_022166.4(XYLT1):c.2224-12C>T	noncoding	Benign
16	17118085	G	C	G17118085C	XYLT1	NM_022166.4(XYLT1):c.2224-106C>G	noncoding	Benign
16	17118125	G	T	G17118125T	XYLT1	NM_022166.4(XYLT1):c.2224-146C>A	noncoding	Benign
16	17127451	A	T	A17127451T	XYLT1	NM_022166.4(XYLT1):c.2223+215T>A	noncoding	Benign
16	17127566	C	T	C17127566T	XYLT1	NM_022166.4(XYLT1):c.2223+100G>A	noncoding	Benign
16	17127876	G	A	G17127876A	XYLT1	NM_022166.4(XYLT1):c.2028-15C>T	noncoding	Benign
16	17127898	T	G	T17127898G	XYLT1	NM_022166.4(XYLT1):c.2028-37A>C	noncoding	Benign
16	17128044	A	G	A17128044G	XYLT1	NM_022166.4(XYLT1):c.2028-183T>C	noncoding	Benign
16	17128130	C	A	C17128130A	XYLT1	NM_022166.4(XYLT1):c.2028-269G>T	noncoding	Benign
16	17134233	G	C	G17134233C	XYLT1	NM_022166.4(XYLT1):c.2027+240C>G	noncoding	Benign
16	17134506	G	A	G17134506A	XYLT1	NM_022166.4(XYLT1):c.1994C>T:p.Thr665Met	coding	Benign
16	17134511	G	A	G17134511A	XYLT1	NM_022166.4(XYLT1):c.1989C>T:p.Ala663=	coding	Benign
16	17134565	G	A	G17134565A	XYLT1	NM_022166.4(XYLT1):c.1935C>T:p.Ser645=	coding	Benign
16	17134646	C	A	C17134646A	XYLT1	NM_022166.4(XYLT1):c.1854G>T:p.Gly618=	coding	Benign
16	17134652	C	G	C17134652G	XYLT1	NM_022166.4(XYLT1):c.1848G>C:p.Leu616=	coding	Benign
16	17138468	G	A	G17138468A	XYLT1	NM_022166.4(XYLT1):c.1651C>T:p.Arg551Cys	coding	Pathogenic
16	17159001	C	T	C17159001T	XYLT1	NM_022166.4(XYLT1):c.1290-92G>A	noncoding	Benign
16	17197941	T	C	T17197941C	XYLT1	NM_022166.4(XYLT1):c.1289+271A>G	noncoding	Benign
16	17198027	C	G	C17198027G	XYLT1	NM_022166.4(XYLT1):c.1289+185G>C	noncoding	Benign
16	17198199	T	C	T17198199C	XYLT1	NM_022166.4(XYLT1):c.1289+13A>G	noncoding	Benign
16	17198217	G	C	G17198217C	XYLT1	NM_022166.4(XYLT1):c.1284C>G:p.Pro428=	coding	Benign
16	17200438	C	T	C17200438T	XYLT1	NM_022166.4(XYLT1):c.1086+44G>A	noncoding	Benign
16	17200491	G	A	G17200491A	XYLT1	NM_022166.4(XYLT1):c.1077C>T:p.His359=	coding	Benign/Likely_benign
16	17200524	G	A	G17200524A	XYLT1	NM_022166.4(XYLT1):c.1044C>T:p.Ala348=	coding	Benign
16	17200617	G	A	G17200617A	XYLT1	NM_022166.4(XYLT1):c.951C>T:p.Ser317=	coding	Benign
16	17258707	G	A	G17258707A	XYLT1	NM_022166.4(XYLT1):c.913+281C>T	noncoding	Benign
16	17258959	C	G	C17258959G	XYLT1	NM_022166.4(XYLT1):c.913+29G>C	noncoding	Benign
16	17258979	G	A	G17258979A	XYLT1	NM_022166.4(XYLT1):c.913+9C>T	noncoding	Benign
16	17259233	G	C	G17259233C	XYLT1	NM_022166.4(XYLT1):c.668C>G:p.Ala223Gly	coding	Benign
16	17259244	G	A	G17259244A	XYLT1	NM_022166.4(XYLT1):c.657C>T:p.Pro219=	coding	Benign
16	17259277	G	A	G17259277A	XYLT1	NM_022166.4(XYLT1):c.624C>T:p.Phe208=	coding	Benign
16	17357994	G	A	G17357994A	XYLT1	NM_022166.4(XYLT1):c.402+18C>T	noncoding	Benign
16	17470220	C	A	C17470220A	XYLT1	NM_022166.4(XYLT1):c.363+214G>T	noncoding	Benign
16	17470416	G	C	G17470416C	XYLT1	NM_022166.4(XYLT1):c.363+18C>G	noncoding	Benign
16	17470801	G	C	G17470801C	XYLT1	NM_022166.4(XYLT1):c.-5C>G	noncoding	Benign
16	17470961	G	A	G17470961A	XYLT1	Single_allele	noncoding	Benign
16	18788293	C	A	C18788293A	RPS15A	NM_001019.5(RPS15A):c.134-151G>T	noncoding	Benign
16	18789316	G	C	G18789316C	RPS15A	NM_001019.5(RPS15A):c.-5-198C>G	noncoding	Benign
16	18793089	T	C	T18793089C	ARL6IP1	NM_015161.3(ARL6IP1):c.*163A>G	noncoding	Benign
16	18793415	C	T	C18793415T	ARL6IP1	NM_015161.3(ARL6IP1):c.494-45G>A	noncoding	Benign
16	18794363	T	G	T18794363G	ARL6IP1	NM_015161.3(ARL6IP1):c.493+236A>C	noncoding	Benign
16	18794382	A	G	A18794382G	ARL6IP1	NM_015161.3(ARL6IP1):c.493+217T>C	noncoding	Benign
16	18794701	A	G	A18794701G	ARL6IP1	NM_015161.3(ARL6IP1):c.409-18T>C	noncoding	Benign
16	18795447	C	A	C18795447A	ARL6IP1	NM_015161.3(ARL6IP1):c.408+17G>T	noncoding	Benign
16	18797710	A	G	A18797710G	ARL6IP1	NM_015161.3(ARL6IP1):c.290+215T>C	noncoding	Benign
16	18798016	G	A	G18798016A	ARL6IP1	NM_015161.3(ARL6IP1):c.199C>T:p.Leu67=	coding	Benign
16	18798422	T	A	T18798422A	ARL6IP1	NM_015161.3(ARL6IP1):c.170+279A>T	noncoding	Benign
16	18798445	A	T	A18798445T	ARL6IP1	NM_015161.3(ARL6IP1):c.170+256T>A	noncoding	Benign
16	18798689	T	A	T18798689A	ARL6IP1	NM_015161.3(ARL6IP1):c.170+12A>T	noncoding	Benign
16	18799038	G	C	G18799038C	ARL6IP1	NM_015161.3(ARL6IP1):c.37-204C>G	noncoding	Benign
16	18801208	T	G	T18801208G	ARL6IP1	NM_015161.3(ARL6IP1):c.36+223A>C	coding	Benign
16	18801353	G	C	G18801353C	ARL6IP1	NM_015161.3(ARL6IP1):c.36+78C>G	coding	Benign
16	18801589	C	T	C18801589T	ARL6IP1	Single_allele	noncoding	Benign
16	18801808	T	G	T18801808G	ARL6IP1	Single_allele	noncoding	Benign
16	19067714	C	T	C19067714T	COQ7	NM_016138.5(COQ7):c.50C>T:p.Pro17Leu	coding	Benign
16	19072292	A	G	A19072292G	COQ7	NM_016138.5(COQ7):c.252+186A>G	noncoding	Benign
16	19077343	A	G	A19077343G	COQ7	NM_016138.5(COQ7):c.545A>G:p.His182Arg	coding	Benign/Likely_benign
16	19078240	C	G	C19078240G	COQ7	NM_016138.5(COQ7):c.*82C>G	noncoding	Benign
16	19669224	T	C	T19669224C	VPS35L	NM_020314.7(VPS35L):c.2286T>C:p.Asp762=	coding	Benign
16	19682217	T	C	T19682217C	VPS35L	NM_020314.7(VPS35L):c.2362-8T>C	noncoding	Benign
16	19682351	G	A	G19682351A	VPS35L	NM_020314.7(VPS35L):c.2488G>A:p.Ala830Thr	coding	Pathogenic
16	20317344	C	T	C20317344T	GP2	NM_001502.4(GP2):c.1285G>A:p.Val429Met	coding	Benign
16	20333321	A	G	A20333321G	UMOD	NM_003361.4(UMOD):c.1916T>C:p.Phe639Ser	coding	Benign/Likely_benign
16	20333567	C	T	C20333567T	UMOD	NM_003361.4(UMOD):c.1862-192G>A	noncoding	Benign
16	20335223	T	C	T20335223C	UMOD	NM_003361.4(UMOD):c.1861+259A>G	noncoding	Benign
16	20335834	G	A	G20335834A	UMOD	NM_003361.4(UMOD):c.1823-314C>T	noncoding	Benign
16	20337273	G	A	G20337273A	UMOD	NM_003361.4(UMOD):c.1740+18C>T	noncoding	Benign
16	20337732	G	C	G20337732C	UMOD	NM_003361.4(UMOD):c.1578-279C>G	noncoding	Benign
16	20341071	T	A	T20341071A	UMOD	NM_003361.4(UMOD):c.1577+20A>T	noncoding	Benign
16	20341080	C	T	C20341080T	UMOD	NM_003361.4(UMOD):c.1577+11G>A	noncoding	Benign
16	20341434	A	G	A20341434G	UMOD	NM_003361.4(UMOD):c.1332-98T>C	noncoding	Benign
16	20341541	G	C	G20341541C	UMOD	NM_003361.4(UMOD):c.1332-205C>G	noncoding	Benign
16	20344195	A	G	A20344195G	UMOD	NM_003361.4(UMOD):c.1183-23T>C	noncoding	Benign
16	20345933	C	T	C20345933T	UMOD	NM_003361.4(UMOD):c.1182+193G>A	noncoding	Benign
16	20345959	C	T	C20345959T	UMOD	NM_003361.4(UMOD):c.1182+167G>A	noncoding	Benign
16	20346076	G	A	G20346076A	UMOD	NM_003361.4(UMOD):c.1182+50C>T	noncoding	Benign
16	20347945	G	T	G20347945T	UMOD	NM_003361.4(UMOD):c.973+278C>A	noncoding	Benign
16	20348181	G	A	G20348181A	UMOD	NM_003361.4(UMOD):c.973+42C>T	noncoding	Benign
16	20348401	C	T	C20348401T	UMOD	NM_003361.4(UMOD):c.865+35G>A	noncoding	Benign
16	20348857	A	C	A20348857C	UMOD	NM_003361.4(UMOD):c.444T>G:p.Cys148Trp	coding	Pathogenic
16	20349018	G	A	G20349018A	UMOD	NM_003361.4(UMOD):c.283C>T:p.Pro95Ser	coding	Pathogenic
16	20349020	C	G	C20349020G	UMOD	NM_003361.4(UMOD):c.281G>C:p.Cys94Ser	coding	Pathogenic
16	20349021	A	C	A20349021C	UMOD	NM_003361.4(UMOD):c.280T>G:p.Cys94Gly	coding	Pathogenic
16	20349023	A	G	A20349023G	UMOD	NM_003361.4(UMOD):c.278T>C:p.Val93Ala	coding	Pathogenic
16	20349072	A	G	A20349072G	UMOD	NM_003361.4(UMOD):c.229T>C:p.Cys77Arg	coding	Pathogenic
16	20350628	C	T	C20350628T	UMOD	NM_003361.4(UMOD):c.88+22G>A	noncoding	Benign
16	20737236	G	A	G20737236A	THUMPD1	NM_017736.5(THUMPD1):c.706C>T:p.Gln236Ter	coding	Pathogenic
16	20737873	G	A	G20737873A	THUMPD1	NM_017736.5(THUMPD1):c.490C>T:p.Pro164Ser	coding	Pathogenic
16	20737894	G	A	G20737894A	THUMPD1	NM_017736.5(THUMPD1):c.469C>T:p.Arg157Ter	coding	Pathogenic
16	20738962	A	C	A20738962C	THUMPD1	NM_017736.5(THUMPD1):c.341T>G:p.Leu114Ter	coding	Pathogenic
16	21258960	A	C	A21258960C	CRYM	NM_001376256.1(CRYM):c.881-115T>G	noncoding	Benign
16	21260990	G	A	G21260990A	CRYM	NM_001376256.1(CRYM):c.880+264C>T	noncoding	Benign
16	21261044	T	C	T21261044C	CRYM	NM_001376256.1(CRYM):c.880+210A>G	noncoding	Benign
16	21261314	C	G	C21261314G	CRYM	NM_001376256.1(CRYM):c.820G>C:p.Glu274Gln	coding	Benign
16	21261771	C	T	C21261771T	CRYM	NM_001376256.1(CRYM):c.795+266G>A	noncoding	Benign
16	21261868	G	A	G21261868A	CRYM	NM_001376256.1(CRYM):c.795+169C>T	noncoding	Benign
16	21261965	A	G	A21261965G	CRYM	NM_001376256.1(CRYM):c.795+72T>C	noncoding	Benign
16	21262200	C	G	C21262200G	CRYM	NM_001376256.1(CRYM):c.674-42G>C	noncoding	Benign
16	21269453	T	C	T21269453C	CRYM	NM_001376256.1(CRYM):c.489+337A>G	noncoding	Benign
16	21269752	C	G	C21269752G	CRYM	NM_001376256.1(CRYM):c.489+38G>C	noncoding	Benign
16	21269770	A	C	A21269770C	CRYM	NM_001376256.1(CRYM):c.489+20T>G	noncoding	Benign
16	21269776	A	C	A21269776C	CRYM	NM_001376256.1(CRYM):c.489+14T>G	noncoding	Benign
16	21270144	A	G	A21270144G	CRYM	NM_001376256.1(CRYM):c.388-253T>C	noncoding	Benign
16	21275378	C	T	C21275378T	CRYM	NM_001376256.1(CRYM):c.387+154G>A	noncoding	Benign
16	21275756	C	A	C21275756A	CRYM	NM_001376256.1(CRYM):c.325-162G>T	noncoding	Benign
16	21275857	G	C	G21275857C	CRYM	NM_001376256.1(CRYM):c.325-263C>G	noncoding	Benign
16	21277330	C	G	C21277330G	CRYM	NM_001376256.1(CRYM):c.324+101G>C	noncoding	Benign
16	21277702	G	A	G21277702A	CRYM	NM_001376256.1(CRYM):c.171-118C>T	noncoding	Benign
16	21277813	A	G	A21277813G	CRYM	NM_001376256.1(CRYM):c.171-229T>C	noncoding	Benign
16	21278305	C	G	C21278305G	CRYM	NM_001888.5(CRYM):c.-54G>C	noncoding	Benign
16	21678454	G	A	G21678454A	OTOA	NM_144672.4(OTOA):c.-4-57G>A	noncoding	Benign
16	21678470	T	A	T21678470A	OTOA	NM_144672.4(OTOA):c.-4-41T>A	noncoding	Benign
16	21678914	G	T	G21678914T	OTOA	NM_144672.4(OTOA):c.92-1G>T	noncoding	Pathogenic
16	21678953	C	G	C21678953G	OTOA	NM_144672.4(OTOA):c.120+10C>G	noncoding	Benign/Likely_benign
16	21679016	G	A	G21679016A	OTOA	NM_144672.4(OTOA):c.121-20G>A	noncoding	Benign/Likely_benign
16	21685308	C	T	C21685308T	OTOA	NM_144672.4(OTOA):c.346C>T:p.Gln116Ter	coding	Pathogenic
16	21687086	C	T	C21687086T	OTOA	NM_144672.4(OTOA):c.400-327C>T	noncoding	Benign
16	21687918	C	T	C21687918T	OTOA	NM_144672.4(OTOA):c.635+270C>T	noncoding	Benign
16	21687965	C	T	C21687965T	OTOA	NM_144672.4(OTOA):c.635+317C>T	noncoding	Benign
16	21691549	T	G	T21691549G	OTOA	NM_144672.4(OTOA):c.636-35T>G	noncoding	Benign
16	21691978	G	A	G21691978A	OTOA	NM_144672.4(OTOA):c.739+291G>A	noncoding	Benign
16	21700924	C	T	C21700924T	OTOA	NM_144672.4(OTOA):c.877C>T:p.Gln293Ter	coding	Pathogenic
16	21701105	C	T	C21701105T	OTOA	NM_144672.4(OTOA):c.980+78C>T	noncoding	Benign
16	21709693	A	G	A21709693G	OTOA	NM_144672.4(OTOA):c.1105-195A>G	noncoding	Benign
16	21709871	G	A	G21709871A	OTOA	NM_144672.4(OTOA):c.1105-17G>A	noncoding	Benign/Likely_benign
16	21710122	C	T	C21710122T	OTOA	NM_144672.4(OTOA):c.1320+19C>T	noncoding	Benign/Likely_benign
16	21715408	G	T	G21715408T	OTOA	NM_144672.4(OTOA):c.1488+256G>T	noncoding	Benign
16	21715443	G	T	G21715443T	OTOA	NM_144672.4(OTOA):c.1488+291G>T	noncoding	Benign
16	21716768	G	C	G21716768C	OTOA	NM_144672.4(OTOA):c.1489-139G>C	noncoding	Benign
16	21716808	G	T	G21716808T	OTOA	NM_144672.4(OTOA):c.1489-99G>T	noncoding	Benign
16	21717069	C	T	C21717069T	OTOA	NM_144672.4(OTOA):c.1629+22C>T	noncoding	Benign
16	21719799	G	A	G21719799A	OTOA	NM_144672.4(OTOA):c.1806+295G>A	noncoding	Benign
16	21723096	A	G	A21723096G	OTOA	NM_144672.4(OTOA):c.1880+118A>G	noncoding	Benign
16	21726187	G	C	G21726187C	OTOA	NM_144672.4(OTOA):c.1881-336G>C	noncoding	Benign
16	21726305	G	A	G21726305A	OTOA	NM_144672.4(OTOA):c.1881-218G>A	noncoding	Benign
16	21726984	G	A	G21726984A	OTOA	NM_144672.4(OTOA):c.2016+326G>A	noncoding	Benign
16	21728052	A	G	A21728052G	OTOA	NM_144672.4(OTOA):c.2017-189A>G	noncoding	Benign
16	21728109	T	C	T21728109C	OTOA	NM_144672.4(OTOA):c.2017-132T>C	noncoding	Benign
16	21736235	C	T	C21736235T	OTOA	NM_144672.4(OTOA):c.2302-26C>T	noncoding	Benign
16	21752119	T	C	T21752119C	OTOA	NM_144672.4(OTOA):c.2918+42T>C	noncoding	Benign
16	21752232	A	G	A21752232G	OTOA	NM_144672.4(OTOA):c.2919-137A>G	noncoding	Benign
16	21753004	C	T	C21753004T	OTOA	NM_144672.4(OTOA):c.3056-23C>T	noncoding	Benign
16	21760587	A	G	A21760587G	OTOA	NM_144672.4(OTOA):c.*47A>G	noncoding	Benign
16	21953049	C	A	C21953049A	UQCRC2	Single_allele	noncoding	Benign
16	21957774	A	G	A21957774G	UQCRC2	NM_003366.4(UQCRC2):c.267+208A>G	noncoding	Benign
16	21958582	A	T	A21958582T	UQCRC2	NM_003366.4(UQCRC2):c.315A>T:p.Ala105=	coding	Benign/Likely_benign
16	21958590	G	A	G21958590A	PDZD9;UQCRC2	NM_003366.4(UQCRC2):c.323G>A:p.Gly108Asp	coding	Pathogenic
16	21968680	G	C	G21968680C	UQCRC2	NM_003366.4(UQCRC2):c.665G>C:p.Gly222Ala	coding	Pathogenic
16	21971815	T	C	T21971815C	UQCRC2	NM_003366.4(UQCRC2):c.767-108T>C	noncoding	Benign
16	21974165	G	T	G21974165T	UQCRC2	NM_003366.4(UQCRC2):c.1047+189G>T	noncoding	Benign
16	21980801	T	C	T21980801C	UQCRC2	NM_003366.4(UQCRC2):c.1278+101T>C	noncoding	Benign
16	21983072	G	C	G21983072C	UQCRC2	NM_003366.4(UQCRC2):c.1279-16G>C	noncoding	Benign/Likely_benign
16	23185981	C	T	C23185981T	SCNN1G	NM_001039.4(SCNN1G):c.-44-247C>T	noncoding	Benign
16	23186733	C	T	C23186733T	SCNN1G	NM_001039.4(SCNN1G):c.317+145C>T	noncoding	Benign
16	23189132	T	A	T23189132A	SCNN1G	NM_001039.4(SCNN1G):c.318-239T>A	noncoding	Benign
16	23189272	T	C	T23189272C	SCNN1G	NM_001039.4(SCNN1G):c.318-99T>C	noncoding	Benign
16	23189465	C	T	C23189465T	SCNN1G	NM_001039.4(SCNN1G):c.412C>T:p.Arg138Ter	coding	Pathogenic
16	23189777	T	C	T23189777C	SCNN1G	NM_001039.4(SCNN1G):c.618+106T>C	noncoding	Benign
16	23192126	G	A	G23192126A	SCNN1G	NM_001039.4(SCNN1G):c.619-226G>A	noncoding	Benign
16	23194324	T	C	T23194324C	SCNN1G	NM_001039.4(SCNN1G):c.913+50T>C	noncoding	Benign
16	23194336	G	C	G23194336C	SCNN1G	NM_001039.4(SCNN1G):c.913+62G>C	noncoding	Benign
16	23209518	G	C	G23209518C	SCNN1G	NM_001039.4(SCNN1G):c.1078-232G>C	noncoding	Benign
16	23209521	C	T	C23209521T	SCNN1G	NM_001039.4(SCNN1G):c.1078-229C>T	noncoding	Benign
16	23209917	A	G	A23209917G	SCNN1G	NM_001039.4(SCNN1G):c.1176+69A>G	noncoding	Benign
16	23210058	T	C	T23210058C	SCNN1G	NM_001039.4(SCNN1G):c.1176+210T>C	noncoding	Benign
16	23210086	G	A	G23210086A	SCNN1G	NM_001039.4(SCNN1G):c.1176+238G>A	noncoding	Benign
16	23211912	G	T	G23211912T	SCNN1G	NM_001039.4(SCNN1G):c.1177-122G>T	noncoding	Benign
16	23211941	G	A	G23211941A	SCNN1G	NM_001039.4(SCNN1G):c.1177-93G>A	noncoding	Benign
16	23211979	T	C	T23211979C	SCNN1G	NM_001039.4(SCNN1G):c.1177-55T>C	noncoding	Benign
16	23212403	C	G	C23212403G	SCNN1G	NM_001039.4(SCNN1G):c.1294+252C>G	noncoding	Benign
16	23212785	T	C	T23212785C	SCNN1G	NM_001039.4(SCNN1G):c.1373+29T>C	noncoding	Benign
16	23213196	T	G	T23213196G	SCNN1G	NM_001039.4(SCNN1G):c.1493+33T>G	noncoding	Benign
16	23214663	A	G	A23214663G	SCNN1G	NM_001039.4(SCNN1G):c.1494-49A>G	noncoding	Benign
16	23215218	C	T	C23215218T	SCNN1G	NM_001039.4(SCNN1G):c.1699C>T:p.Gln567*	coding	Pathogenic
16	23301864	G	A	G23301864A	SCNN1B	Single_allele	noncoding	Benign
16	23302174	G	A	G23302174A	SCNN1B	Single_allele	noncoding	Benign
16	23302675	C	G	C23302675G	SCNN1B	NM_000336.3(SCNN1B):c.-9+238C>G	noncoding	Benign
16	23302732	T	C	T23302732C	SCNN1B	NM_000336.3(SCNN1B):c.-9+295T>C	noncoding	Benign
16	23303001	G	T	G23303001T	SCNN1B	NM_000336.3(SCNN1B):c.-9+564G>T	noncoding	Benign
16	23352760	A	C	A23352760C	SCNN1B	NM_000336.3(SCNN1B):c.312-41A>C	noncoding	Benign
16	23353028	C	A	C23353028A	SCNN1B	NM_000336.3(SCNN1B):c.539C>A:p.Ser180Ter	coding	Pathogenic
16	23355101	G	A	G23355101A	SCNN1B	NM_000336.3(SCNN1B):c.586-198G>A	noncoding	Benign
16	23355142	G	T	G23355142T	SCNN1B	NM_000336.3(SCNN1B):c.586-157G>T	noncoding	Benign
16	23355207	C	G	C23355207G	SCNN1B	NM_000336.3(SCNN1B):c.586-92C>G	noncoding	Benign
16	23355591	C	T	C23355591T	SCNN1B	NM_000336.3(SCNN1B):c.776+102C>T	noncoding	Benign
16	23368125	C	G	C23368125G	SCNN1B	NM_000336.3(SCNN1B):c.880+166C>G	noncoding	Benign
16	23368158	T	C	T23368158C	SCNN1B	NM_000336.3(SCNN1B):c.880+199T>C	noncoding	Benign
16	23368167	C	T	C23368167T	SCNN1B	NM_000336.3(SCNN1B):c.880+208C>T	noncoding	Benign
16	23371123	G	A	G23371123A	SCNN1B	NM_000336.3(SCNN1B):c.881-176G>A	noncoding	Benign
16	23371588	G	C	G23371588C	SCNN1B	NM_000336.3(SCNN1B):c.1044+126G>C	noncoding	Benign
16	23371646	C	T	C23371646T	SCNN1B	NM_000336.3(SCNN1B):c.1045-130C>T	noncoding	Benign
16	23371893	T	C	T23371893C	SCNN1B	NM_000336.3(SCNN1B):c.1152+10T>C	noncoding	Benign
16	23371926	G	A	G23371926A	SCNN1B	NM_000336.3(SCNN1B):c.1152+43G>A	noncoding	Benign
16	23372215	G	A	G23372215A	SCNN1B	NM_000336.3(SCNN1B):c.1152+332G>A	noncoding	Benign
16	23375976	C	T	C23375976T	SCNN1B	NM_000336.3(SCNN1B):c.1270+121C>T	noncoding	Benign
16	23376072	G	A	G23376072A	SCNN1B	NM_000336.3(SCNN1B):c.1270+217G>A	noncoding	Benign
16	23376934	G	A	G23376934A	SCNN1B	NM_000336.3(SCNN1B):c.1271-231G>A	noncoding	Benign
16	23377094	G	C	G23377094C	SCNN1B	NM_000336.3(SCNN1B):c.1271-71G>C	noncoding	Benign
16	23378495	A	G	A23378495G	SCNN1B	NM_000336.3(SCNN1B):c.1405-211A>G	noncoding	Benign
16	23378548	T	A	T23378548A	SCNN1B	NM_000336.3(SCNN1B):c.1405-158T>A	noncoding	Benign
16	23378880	G	C	G23378880C	SCNN1B	NM_000336.3(SCNN1B):c.1466+113G>C	noncoding	Benign
16	23380309	A	T	A23380309T	SCNN1B	NM_000336.3(SCNN1B):c.1543-112A>T	noncoding	Benign
16	23380728	C	T	C23380728T	SCNN1B	NM_000336.3(SCNN1B):c.1850C>T:p.Pro617Leu	coding	Pathogenic
16	23389173	C	A	C23389173A	COG7	NM_153603.4(COG7):c.2147-87G>T	noncoding	Benign
16	23392189	G	A	G23392189A	COG7	NM_153603.4(COG7):c.2146+191C>T	noncoding	Benign
16	23392802	G	A	G23392802A	COG7	NM_153603.4(COG7):c.2003-279C>T	noncoding	Benign
16	23393034	G	A	G23393034A	COG7	NM_153603.4(COG7):c.2002+199C>T	noncoding	Benign
16	23393364	C	T	C23393364T	COG7	NM_153603.4(COG7):c.1888-17G>A	noncoding	Benign/Likely_benign
16	23403498	C	T	C23403498T	COG7	NM_153603.4(COG7):c.1803+196G>A	noncoding	Benign
16	23413878	G	A	G23413878A	COG7	NM_153603.4(COG7):c.1293-314C>T	noncoding	Benign
16	23416737	T	C	T23416737C	COG7	NM_153603.4(COG7):c.1292+230A>G	noncoding	Benign
16	23424961	G	C	G23424961C	COG7	NM_153603.4(COG7):c.811-14C>G	noncoding	Benign/Likely_benign
16	23442556	C	T	C23442556T	COG7	NM_153603.4(COG7):c.525G>A:p.Val175=	coding	Benign
16	23442800	T	C	T23442800C	COG7	NM_153603.4(COG7):c.436-155A>G	noncoding	Benign
16	23445227	G	C	G23445227C	COG7	NM_153603.4(COG7):c.319-63C>G	noncoding	Benign
16	23445257	T	C	T23445257C	COG7	NM_153603.4(COG7):c.319-93A>G	noncoding	Benign
16	23446262	C	T	C23446262T	COG7	NM_153603.4(COG7):c.170-301G>A	noncoding	Benign
16	23452994	T	C	T23452994C	COG7	NM_153603.4(COG7):c.1A>G:p.Met1Val	coding	Pathogenic
16	23529614	G	A	G23529614A	EARS2	NM_001083614.2(EARS2):c.1240C>T:p.Gln414Ter	coding	Pathogenic
16	23534657	A	G	A23534657G	EARS2	NM_001083614.2(EARS2):c.958+231T>C	noncoding	Benign
16	23544623	G	A	G23544623A	EARS2	NM_001083614.2(EARS2):c.376C>T:p.Gln126Ter	coding	Pathogenic
16	23557352	G	A	G23557352A	EARS2	NM_001083614.1(EARS2):c.-9C>T	noncoding	Benign
16	23557571	A	G	A23557571G	EARS2	Single_allele	noncoding	Benign
16	23603525	C	T	C23603525T	PALB2	NM_024675.4(PALB2):c.3495G>A:p.Ser1165=	coding	Benign/Likely_benign
16	23603670	C	T	C23603670T	PALB2	NM_024675.4(PALB2):c.3351-1G>A	coding	Pathogenic
16	23607962	C	T	C23607962T	PALB2	NM_024675.4(PALB2):c.3252G>A:p.Ser1084=	coding	Benign/Likely_benign
16	23607980	A	T	A23607980T	PALB2	NM_024675.4(PALB2):c.3234T>A:p.Cys1078Ter	coding	Pathogenic/Likely_pathogenic
16	23608004	G	C	G23608004C	PALB2	NM_024675.4(PALB2):c.3210C>G:p.Leu1070=	coding	Benign/Likely_benign
16	23613903	T	C	T23613903C	PALB2	NM_024675.4(PALB2):c.3201+101A>G	noncoding	Benign
16	23613909	G	A	G23613909A	PALB2	NM_024675.4(PALB2):c.3201+95C>T	noncoding	Benign
16	23614025	A	T	A23614025T	PALB2	NM_024675.4(PALB2):c.3180T>A:p.Cys1060Ter	coding	Pathogenic
16	23614064	T	C	T23614064C	PALB2	NM_024675.4(PALB2):c.3141A>G:p.Lys1047=	coding	Benign/Likely_benign
16	23621417	G	A	G23621417A	PALB2	NM_024675.4(PALB2):c.3058C>T:p.Gln1020Ter	coding	Pathogenic
16	23622705	A	G	A23622705G	PALB2	NM_024675.4(PALB2):c.2996+264T>C	noncoding	Benign
16	23623093	G	A	G23623093A	PALB2	NM_024675.4(PALB2):c.2872C>T:p.Gln958Ter	coding	Pathogenic/Likely_pathogenic
16	23624007	A	C	A23624007C	PALB2	NM_024675.4(PALB2):c.2834+2T>G	noncoding	Pathogenic
16	23624007	A	G	A23624007G	PALB2	NM_024675.4(PALB2):c.2834+2T>C	noncoding	Pathogenic/Likely_pathogenic
16	23624084	A	C	A23624084C	PALB2	NM_024675.4(PALB2):c.2759T>G:p.Leu920Ter	coding	Pathogenic/Likely_pathogenic
16	23626349	T	A	T23626349A	PALB2	NM_024675.4(PALB2):c.2635A>T:p.Arg879Ter	coding	Pathogenic
16	23626353	C	T	C23626353T	PALB2	NM_024675.4(PALB2):c.2631G>A:p.Trp877Ter	coding	Pathogenic
16	23629123	G	A	G23629123A	PALB2	NM_024675.4(PALB2):c.2586+81C>T	noncoding	Benign/Likely_benign
16	23629189	G	T	G23629189T	PALB2	NM_024675.4(PALB2):c.2586+15C>A	noncoding	Benign/Likely_benign
16	23629630	T	C	T23629630C	PALB2	NM_024675.4(PALB2):c.2514+10A>G	noncoding	Benign/Likely_benign
16	23629646	G	C	G23629646C	PALB2	NM_024675.4(PALB2):c.2508C>G:p.Val836=	coding	Benign/Likely_benign
16	23629771	G	A	G23629771A	PALB2	NM_024675.4(PALB2):c.2383C>T:p.Gln795Ter	coding	Pathogenic
16	23629804	T	A	T23629804A	PALB2	NM_024675.4(PALB2):c.2350A>T:p.Lys784Ter	coding	Pathogenic
16	23629857	G	C	G23629857C	PALB2	NM_024675.4(PALB2):c.2297C>G:p.Ser766Ter	coding	Pathogenic
16	23629879	G	A	G23629879A	PALB2	NM_024675.4(PALB2):c.2275C>T:p.Gln759Ter	coding	Pathogenic
16	23630072	T	C	T23630072C	PALB2	NM_024675.4(PALB2):c.2082A>G:p.Thr694=	coding	Benign/Likely_benign
16	23630113	T	A	T23630113A	PALB2	NM_024675.4(PALB2):c.2041A>T:p.Lys681Ter	coding	Pathogenic
16	23630140	C	A	C23630140A	PALB2	NM_024675.4(PALB2):c.2014G>T:p.Glu672Ter	coding	Pathogenic
16	23630142	A	C	A23630142C	PALB2	NM_024675.4(PALB2):c.2012T>G:p.Leu671Ter	coding	Pathogenic/Likely_pathogenic
16	23630185	C	A	C23630185A	PALB2	NM_024675.4(PALB2):c.1969G>T:p.Glu657Ter	coding	Pathogenic
16	23630231	T	C	T23630231C	PALB2	NM_024675.4(PALB2):c.1923A>G:p.Lys641=	coding	Benign/Likely_benign
16	23630260	C	A	C23630260A	PALB2	NM_024675.4(PALB2):c.1894G>T:p.Glu632Ter	coding	Pathogenic
16	23630350	G	A	G23630350A	PALB2	NM_024675.4(PALB2):c.1804C>T:p.Gln602Ter	coding	Pathogenic
16	23630355	A	C	A23630355C	PALB2	NM_024675.4(PALB2):c.1799T>G:p.Leu600Ter	coding	Pathogenic
16	23630429	C	T	C23630429T	PALB2	NM_024675.4(PALB2):c.1725G>A:p.Trp575Ter	coding	Pathogenic
16	23635050	A	T	A23635050T	PALB2	NM_024675.4(PALB2):c.1496T>A:p.Leu499Ter	coding	Pathogenic/Likely_pathogenic
16	23635115	G	A	G23635115A	PALB2	NM_024675.4(PALB2):c.1431C>T:p.Thr477=	coding	Benign/Likely_benign
16	23635235	T	C	T23635235C	PALB2	NM_024675.4(PALB2):c.1311A>G:p.Lys437=	coding	Benign/Likely_benign
16	23635289	G	T	G23635289T	PALB2	NM_024675.4(PALB2):c.1257C>A:p.Cys419Ter	coding	Pathogenic
16	23635358	G	T	G23635358T	PALB2	NM_024675.4(PALB2):c.1188C>A:p.Cys396Ter	coding	Pathogenic
16	23635372	C	A	C23635372A	PALB2	NM_024675.4(PALB2):c.1174G>T:p.Glu392Ter	coding	Pathogenic
16	23635438	G	A	G23635438A	PALB2	NM_024675.4(PALB2):c.1108C>T:p.Gln370Ter	coding	Pathogenic/Likely_pathogenic
16	23635525	C	A	C23635525A	PALB2	NM_024675.4(PALB2):c.1021G>T:p.Glu341Ter	coding	Pathogenic
16	23635666	T	A	T23635666A	PALB2	NM_024675.4(PALB2):c.880A>T:p.Lys294Ter	coding	Pathogenic
16	23635759	C	A	C23635759A	PALB2	NM_024675.4(PALB2):c.787G>T:p.Glu263Ter	coding	Pathogenic
16	23635778	G	A	G23635778A	PALB2	NM_024675.4(PALB2):c.768C>T:p.Ser256=	coding	Benign/Likely_benign
16	23635855	T	A	T23635855A	PALB2	NM_024675.4(PALB2):c.691A>T:p.Lys231Ter	coding	Pathogenic
16	23635881	A	T	A23635881T	PALB2	NM_024675.4(PALB2):c.665T>A:p.Leu222Ter	coding	Pathogenic
16	23635894	C	A	C23635894A	PALB2	NM_024675.4(PALB2):c.652G>T:p.Glu218Ter	coding	Pathogenic
16	23636011	G	A	G23636011A	PALB2	NM_024675.4(PALB2):c.535C>T:p.Gln179Ter	coding	Pathogenic
16	23636074	G	A	G23636074A	PALB2	NM_024675.4(PALB2):c.472C>T:p.Gln158Ter	coding	Pathogenic/Likely_pathogenic
16	23636335	C	T	C23636335T	PALB2	NM_024675.4(PALB2):c.212-1G>A	coding	Pathogenic/Likely_pathogenic
16	23637849	C	A	C23637849A	PALB2	NM_024675.4(PALB2):c.211+1G>T	noncoding	Pathogenic/Likely_pathogenic
16	23637852	G	C	G23637852C	PALB2	NM_024675.4(PALB2):c.209C>G:p.Ser70Ter	coding	Pathogenic
16	23638094	G	C	G23638094C	PALB2	NM_024675.4(PALB2):c.84C>G:p.Tyr28Ter	coding	Pathogenic
16	23638094	G	T	G23638094T	PALB2	NM_024675.4(PALB2):c.84C>A:p.Tyr28Ter	coding	Pathogenic
16	23641143	G	A	G23641143A	PALB2	NM_024675.4(PALB2):c.15C>T:p.Pro5=	coding	Benign/Likely_benign
16	23641167	G	A	G23641167A	PALB2	NM_024675.4(PALB2):c.-10C>T	noncoding	Benign/Likely_benign
16	23641205	T	C	T23641205C	PALB2	NM_024675.4(PALB2):c.-48A>G	noncoding	Benign
16	23641699	A	G	A23641699G	PALB2	NM_032486.4(DCTN5):c.48+109A>G	noncoding	Benign
16	24564791	A	G	A24564791G	RBBP6	NM_006910.5(RBBP6):c.1521-6A>G	noncoding	Benign
16	24570235	G	A	G24570235A	RBBP6	NM_006910.5(RBBP6):c.3545G>A:p.Arg1182His	coding	Benign
16	24777324	T	A	T24777324A	TNRC6A	NM_014494.4(TNRC6A):c.555T>A:p.Asn185Lys	coding	Benign
16	24790416	G	A	G24790416A	TNRC6A	NM_014494.4(TNRC6A):c.1774G>A:p.Ala592Thr	coding	Benign
16	24790658	C	T	C24790658T	TNRC6A	NM_014494.4(TNRC6A):c.2016C>T:p.Ser672=	coding	Benign
16	24791004	C	T	C24791004T	TNRC6A	NM_014494.4(TNRC6A):c.2362C>T:p.Pro788Ser	coding	Benign
16	24805171	A	G	A24805171G	TNRC6A	NM_014494.4(TNRC6A):c.4122+20A>G	noncoding	Benign
16	27403018	T	C	T27403018C	IL21R	NM_181078.3(IL21R):c.-17+400T>C	noncoding	Benign
16	27403057	T	G	T27403057G	IL21R	NM_181078.3(IL21R):c.-17+439T>G	noncoding	Benign
16	27429962	A	G	A27429962G	IL21R	NM_181078.3(IL21R):c.-16-94A>G	noncoding	Benign
16	27434039	G	C	G27434039C	IL21R	NM_181078.3(IL21R):c.50-308G>C	noncoding	Benign
16	27434733	C	T	C27434733T	IL21R	NM_181078.3(IL21R):c.152+284C>T	noncoding	Benign
16	27437469	G	A	G27437469A	IL21R	NM_181078.3(IL21R):c.153-19G>A	noncoding	Benign
16	27442770	T	C	T27442770C	IL21R	NM_181078.3(IL21R):c.353-192T>C	noncoding	Benign
16	27443241	A	G	A27443241G	IL21R	NM_181078.3(IL21R):c.507+125A>G	noncoding	Benign
16	27443362	T	C	T27443362C	IL21R	NM_181078.3(IL21R):c.507+246T>C	noncoding	Benign
16	27445292	G	C	G27445292C	IL21R	NM_181078.3(IL21R):c.785+16G>C	noncoding	Benign
16	27445837	T	G	T27445837G	IL21R	NM_181078.3(IL21R):c.786-170T>G	noncoding	Benign
16	27446197	C	G	C27446197G	IL21R	NM_181078.3(IL21R):c.867+109C>G	noncoding	Benign
16	27449193	C	T	C27449193T	IL21R	NM_181078.3(IL21R):c.1527C>T:p.Ser509=	coding	Benign
16	27449229	C	T	C27449229T	IL21R	NM_181078.3(IL21R):c.1563C>T:p.Arg521=	coding	Benign
16	27449576	G	A	G27449576A	IL21R	NM_181078.3(IL21R):c.*293G>A	noncoding	Benign
16	27550263	G	A	G27550263A	KATNIP	NM_015202.5(KATNIP):c.7+86G>A	noncoding	Benign
16	27573942	C	T	C27573942T	KATNIP	NM_015202.5(KATNIP):c.49C>T:p.Arg17Ter	coding	Pathogenic/Likely_pathogenic
16	27618340	G	C	G27618340C	KATNIP	NM_015202.5(KATNIP):c.64-85G>C	noncoding	Benign
16	27630928	A	G	A27630928G	KATNIP	NM_015202.5(KATNIP):c.311-137A>G	noncoding	Benign
16	27681514	G	A	G27681514A	KATNIP	NM_015202.5(KATNIP):c.924G>A:p.Gln308=	coding	Benign
16	27698504	C	T	C27698504T	KATNIP	NM_015202.5(KATNIP):c.1113+4C>T	noncoding	Benign
16	27698803	T	C	T27698803C	KATNIP	NM_015202.5(KATNIP):c.1113+303T>C	noncoding	Benign
16	27701782	C	T	C27701782T	KATNIP	NM_015202.5(KATNIP):c.1286+87C>T	noncoding	Benign
16	27704125	C	A	C27704125A	KATNIP	NM_015202.5(KATNIP):c.1389+127C>A	noncoding	Benign
16	27708880	C	T	C27708880T	KATNIP	NM_015202.5(KATNIP):c.1565C>T:p.Thr522Met	coding	Benign
16	27708985	G	A	G27708985A	KATNIP	NM_015202.5(KATNIP):c.1605+65G>A	noncoding	Benign
16	27740813	A	G	A27740813G	KATNIP	NM_015202.5(KATNIP):c.2516A>G:p.Asp839Gly	coding	Benign
16	27740814	C	T	C27740814T	KATNIP	NM_015202.5(KATNIP):c.2517C>T:p.Asp839=	coding	Benign
16	27749563	C	T	C27749563T	KATNIP	NM_015202.5(KATNIP):c.2624-21C>T	noncoding	Benign
16	27749614	G	A	G27749614A	KATNIP	NM_015202.5(KATNIP):c.2654G>A:p.Arg885Gln	coding	Benign
16	27749719	C	T	C27749719T	KATNIP	NM_015202.5(KATNIP):c.2759C>T:p.Pro920Leu	coding	Benign
16	27750219	C	T	C27750219T	KATNIP	NM_015202.5(KATNIP):c.3259C>T:p.Arg1087Ter	coding	Pathogenic
16	27750310	T	C	T27750310C	KATNIP	NM_015202.5(KATNIP):c.3346+4T>C	noncoding	Benign
16	27751789	T	C	T27751789C	KATNIP	NM_015202.5(KATNIP):c.3417T>C:p.Ser1139=	coding	Benign
16	27761559	G	A	G27761559A	KATNIP	NM_015202.5(KATNIP):c.3778G>A:p.Glu1260Lys	coding	Benign
16	27761580	G	A	G27761580A	KATNIP	NM_015202.5(KATNIP):c.3799G>A:p.Ala1267Thr	coding	Benign
16	27766491	T	C	T27766491C	KATNIP	NM_015202.5(KATNIP):c.3975+17T>C	noncoding	Benign
16	27766510	A	G	A27766510G	KATNIP	NM_015202.5(KATNIP):c.3975+36A>G	noncoding	Benign
16	27769988	G	A	G27769988A	KATNIP	NM_015202.5(KATNIP):c.4103G>A:p.Arg1368Gln	coding	Benign
16	27773176	G	A	G27773176A	KATNIP	NM_015202.5(KATNIP):c.4276G>A:p.Glu1426Lys	coding	Benign
16	27774824	G	A	G27774824A	KATNIP	NM_015202.5(KATNIP):c.4310-121G>A	noncoding	Benign
16	27774934	C	T	C27774934T	KATNIP	NM_015202.5(KATNIP):c.4310-11C>T	noncoding	Benign
16	27775292	T	G	T27775292G	KATNIP	NM_015202.5(KATNIP):c.4449+208T>G	noncoding	Benign
16	27775347	C	T	C27775347T	KATNIP	NM_015202.5(KATNIP):c.4449+263C>T	noncoding	Benign
16	27777957	G	A	G27777957A	KATNIP	NM_015202.5(KATNIP):c.4789G>A:p.Val1597Ile	coding	Benign
16	28477637	T	G	T28477637G	CLN3	NM_001042432.2(CLN3):c.1198-2A>C	noncoding	Pathogenic
16	28478025	T	C	T28478025C	CLN3	NM_001042432.2(CLN3):c.1057-148A>G	noncoding	Benign
16	28482102	T	G	T28482102G	CLN3	NM_001042432.2(CLN3):c.1056+3A>C	noncoding	Pathogenic
16	28482638	C	T	C28482638T	CLN3	NM_001042432.2(CLN3):c.825G>A:p.Trp275Ter	coding	Pathogenic
16	28484045	G	A	G28484045A	CLN3	NM_001042432.2(CLN3):c.751C>T:p.Gln251Ter	coding	Pathogenic/Likely_pathogenic
16	28484087	G	A	G28484087A	CLN3	NM_001042432.2(CLN3):c.709C>T:p.Gln237Ter	coding	Pathogenic
16	28484120	T	C	T28484120C	CLN3	NM_001042432.2(CLN3):c.678-2A>G	noncoding	Pathogenic
16	28486577	C	G	C28486577G	CLN3	NM_001042432.2(CLN3):c.533+1G>C	noncoding	Pathogenic/Likely_pathogenic
16	28486651	C	T	C28486651T	CLN3	NM_001042432.2(CLN3):c.461-1G>A	coding	Pathogenic
16	28487455	C	T	C28487455T	CLN3	NM_001042432.2(CLN3):c.460+1G>A	noncoding	Pathogenic
16	28487502	G	A	G28487502A	CLN3	NM_001042432.2(CLN3):c.414C>T:p.Ser138=	coding	Benign/Likely_benign
16	28487800	C	T	C28487800T	CLN3	NM_001042432.2(CLN3):c.295-59G>A	noncoding	Benign
16	28487970	A	G	A28487970G	CLN3	NM_001042432.2(CLN3):c.295-229T>C	noncoding	Benign
16	28488620	G	A	G28488620A	CLN3	NM_001042432.2(CLN3):c.265C>T:p.Arg89Ter	coding	Pathogenic/Likely_pathogenic
16	28491481	C	G	C28491481G	CLN3	NM_001042432.2(CLN3):c.125+1G>C	noncoding	Pathogenic
16	28491620	G	C	G28491620C	CLN3	NM_001042432.2(CLN3):c.47-60C>G	noncoding	Benign
16	28491717	C	A	C28491717A	CLN3	NM_001042432.2(CLN3):c.43G>T:p.Glu15Ter	coding	Pathogenic
16	28491759	T	C	T28491759C	CLN3	NM_001042432.2(CLN3):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
16	28492377	T	C	T28492377C	CLN3	Single_allele	noncoding	Benign
16	28503907	A	C	A28503907C	IL27	NM_145659.3(IL27):c.175T>G:p.Ser59Ala	coding	Benign
16	28833044	G	A	G28833044A	ATXN2L	NM_007245.4(ATXN2L):c.1660-15G>A	noncoding	Benign
16	28844201	G	C	G28844201C	TUFM	NM_003321.5(TUFM):c.922+29C>G	noncoding	Benign
16	28844875	G	C	G28844875C	TUFM	NM_003321.5(TUFM):c.520-13C>G	noncoding	Benign/Likely_benign
16	28845498	C	T	C28845498T	TUFM	NM_003321.5(TUFM):c.248-18G>A	noncoding	Benign
16	28846401	C	T	C28846401T	TUFM	NM_003321.4(TUFM):c.-132G>A	noncoding	Benign/Likely_benign
16	28867343	C	T	C28867343T	SH2B1	NM_001387430.1(SH2B1):c.952C>T:p.Arg318Ter	coding	Pathogenic
16	28871920	A	G	A28871920G	SH2B1	NM_001387430.1(SH2B1):c.1450A>G:p.Thr484Ala	coding	Benign
16	28871988	C	T	C28871988T	SH2B1	NM_001387430.1(SH2B1):c.1513+5C>T	noncoding	Benign
16	28872520	C	T	C28872520T	SH2B1	NM_001387430.1(SH2B1):c.1726-14C>T	noncoding	Benign
16	28872654	T	C	T28872654C	SH2B1	NM_001387430.1(SH2B1):c.1846T>C:p.Ser616Pro	coding	Pathogenic/Likely_pathogenic
16	28873194	C	T	C28873194T	SH2B1	NM_001387430.1(SH2B1):c.1898-253C>T	coding	Benign/Likely_benign
16	28873649	C	T	C28873649T	SH2B1	NM_001387430.1(SH2B1):c.2100C>T:p.Pro700=	coding	Benign
16	28879222	C	G	C28879222G	ATP2A1	NM_004320.6(ATP2A1):c.136+106C>G	noncoding	Benign
16	28879514	G	A	G28879514A	ATP2A1	NM_004320.6(ATP2A1):c.150G>A:p.Trp50Ter	coding	Pathogenic
16	28879564	T	G	T28879564G	ATP2A1	NM_004320.6(ATP2A1):c.200T>G:p.Leu67Arg	coding	Pathogenic
16	28879584	G	C	G28879584C	ATP2A1	NM_004320.6(ATP2A1):c.219+1G>C	coding	Pathogenic
16	28882906	C	A	C28882906A	ATP2A1	NM_004320.6(ATP2A1):c.463+317C>A	noncoding	Benign
16	28887290	C	G	C28887290G	ATP2A1	NM_004320.6(ATP2A1):c.630+16C>G	noncoding	Benign/Likely_benign
16	28887498	T	A	T28887498A	ATP2A1	NM_004320.6(ATP2A1):c.704T>A:p.Ile235Asn	coding	Pathogenic
16	28887500	C	T	C28887500T	ATP2A1	NM_004320.6(ATP2A1):c.706C>T:p.Arg236Ter	coding	Pathogenic
16	28894536	C	T	C28894536T	ATP2A1	NM_004320.6(ATP2A1):c.1216C>T:p.Gln406Ter	coding	Pathogenic
16	28900782	C	T	C28900782T	ATP2A1	NM_004320.6(ATP2A1):c.1966C>T:p.Arg656Ter	coding	Pathogenic
16	28902024	C	G	C28902024G	ATP2A1	NM_004320.6(ATP2A1):c.2262C>G:p.Tyr754Ter	coding	Pathogenic
16	28902629	C	G	C28902629G	ATP2A1	NM_004320.6(ATP2A1):c.2574C>G:p.Tyr858Ter	coding	Pathogenic
16	28902767	C	G	C28902767G	ATP2A1	NM_004320.6(ATP2A1):c.2611-11C>G	noncoding	Benign
16	28903287	A	G	A28903287G	ATP2A1	NM_004320.6(ATP2A1):c.2863-36A>G	noncoding	Benign
16	28903517	C	T	C28903517T	ATP2A1	NM_004320.6(ATP2A1):c.2980+77C>T	noncoding	Benign
16	28904132	T	C	T28904132C	ATP2A1	NM_004320.6(ATP2A1):c.*38-48T>C	noncoding	Benign
16	28904193	A	G	A28904193G	ATP2A1	NM_004320.6(ATP2A1):c.*51A>G	coding	Benign
16	28932385	C	A	C28932385A	CD19	NM_001770.6(CD19):c.128C>A:p.Ser43Ter	coding	Pathogenic
16	28932883	C	G	C28932883G	CD19	NM_001770.6(CD19):c.356-28C>G	noncoding	Benign
16	28932936	G	A	G28932936A	CD19	NM_001770.6(CD19):c.381G>A:p.Ser127=	coding	Benign/Likely_benign
16	28937390	C	T	C28937390T	CD19	NM_001770.6(CD19):c.1303+15C>T	noncoding	Benign
16	28937842	A	G	A28937842G	CD19	NM_001770.6(CD19):c.1486+17A>G	noncoding	Benign
16	28937843	T	A	T28937843A	CD19	NM_001770.6(CD19):c.1486+18T>A	noncoding	Benign
16	28938784	G	A	G28938784A	CD19	NM_001770.6(CD19):c.1579+16G>A	noncoding	Benign
16	28939111	C	T	C28939111T	CD19	NM_001770.6(CD19):c.*16-30C>T	noncoding	Benign
16	28985436	G	T	G28985436T	LAT	NM_001014987.2(LAT):c.19G>T:p.Val7Phe	coding	Benign
16	28985748	C	T	C28985748T	LAT	NM_001014987.2(LAT):c.128+8C>T	noncoding	Benign
16	28985749	G	T	G28985749T	LAT	NM_001014987.2(LAT):c.128+9G>T	noncoding	Benign
16	28985754	A	G	A28985754G	LAT	NM_001014987.2(LAT):c.128+14A>G	noncoding	Benign
16	28985949	T	C	T28985949C	LAT	NM_001014987.2(LAT):c.163+61T>C	noncoding	Benign
16	28986547	T	C	T28986547C	LAT	NM_001014987.2(LAT):c.318T>C:p.Ser106=	coding	Benign
16	28986676	G	A	G28986676A	LAT	NM_001014987.2(LAT):c.360G>A:p.Ala120=	coding	Benign
16	28986790	T	A	T28986790A	LAT	NM_001014987.2(LAT):c.399-9T>A	noncoding	Benign
16	28986896	G	A	G28986896A	LAT	NM_001014987.2(LAT):c.493+3G>A	noncoding	Benign
16	28989487	C	T	C28989487T	LAT	NM_001014987.2(LAT):c.494-40C>T	noncoding	Benign
16	28989850	C	T	C28989850T	LAT	NM_001014987.2(LAT):c.622+11C>T	noncoding	Benign
16	28990139	A	C	A28990139C	LAT	NM_001014987.2(LAT):c.*8-50A>C	noncoding	Benign
16	29790478	G	A	G29790478A	KIF22	Single_allele	noncoding	Benign
16	29791094	T	C	T29791094C	KIF22	NM_007317.3(KIF22):c.70+265T>C	coding	Benign
16	29796989	G	A	G29796989A	KIF22	NM_007317.3(KIF22):c.167G>A:p.Gly56Glu	coding	Benign
16	29799706	T	A	T29799706A	KIF22	NM_007317.3(KIF22):c.1069T>A:p.Ser357Thr	coding	Benign
16	29799998	C	T	C29799998T	KIF22	NM_007317.3(KIF22):c.1230C>T:p.Ile410=	coding	Benign
16	29800065	T	G	T29800065G	KIF22	NM_007317.3(KIF22):c.1280+17T>G	noncoding	Benign
16	29802827	G	A	G29802827A	KIF22	NM_007317.3(KIF22):c.1339G>A:p.Asp447Asn	coding	Benign/Likely_benign
16	29802860	G	T	G29802860T	KIF22	NM_007317.3(KIF22):c.1372G>T:p.Ala458Ser	coding	Benign
16	29803433	T	C	T29803433C	KIF22	NM_007317.3(KIF22):c.1450-16T>C	noncoding	Benign
16	29804082	G	A	G29804082A	KIF22	NM_007317.3(KIF22):c.1677+17G>A	noncoding	Benign
16	29804896	A	G	A29804896G	KIF22	NM_007317.3(KIF22):c.1760A>G:p.His587Arg	coding	Benign
16	29805096	A	G	A29805096G	KIF22	NM_007317.3(KIF22):c.1891-19A>G	noncoding	Benign
16	29805099	G	A	G29805099A	KIF22	NM_007317.3(KIF22):c.1891-16G>A	noncoding	Benign
16	29812021	T	C	T29812021C	PRRT2	Single_allele	noncoding	Benign
16	29812989	G	A	G29812989A	PRRT2	NM_145239.3(PRRT2):c.-65-1G>A	noncoding	Pathogenic
16	29813025	T	C	T29813025C	PRRT2	NM_145239.3(PRRT2):c.-30T>C	noncoding	Benign/Likely_benign
16	29813236	C	A	C29813236A	PRRT2	NM_145239.3(PRRT2):c.182C>A:p.Ser61Ter	coding	Pathogenic
16	29813589	C	T	C29813589T	PRRT2	NM_145239.3(PRRT2):c.535C>T:p.Gln179Ter	coding	Pathogenic
16	29813701	C	T	C29813701T	PRRT2	NM_145239.3(PRRT2):c.647C>T:p.Pro216Leu	coding	Benign/Likely_benign
16	29813712	C	T	C29813712T	PRRT2	NM_145239.3(PRRT2):c.658C>T:p.Gln220Ter	coding	Pathogenic
16	29813877	T	C	T29813877C	PRRT2	NM_145239.3(PRRT2):c.823T>C:p.Ser275Pro	coding	Pathogenic/Likely_pathogenic
16	29813888	C	A	C29813888A	PRRT2	NM_145239.3(PRRT2):c.834C>A:p.Cys278Ter	coding	Pathogenic
16	29813896	G	A	G29813896A	PRRT2	NM_145239.3(PRRT2):c.842G>A:p.Trp281Ter	coding	Pathogenic
16	29813924	T	G	T29813924G	PRRT2	NM_145239.3(PRRT2):c.870T>G:p.Tyr290Ter	coding	Pathogenic
16	29813990	G	A	G29813990A	PRRT2	NM_145239.3(PRRT2):c.879+57G>A	coding	Benign
16	29814332	G	A	G29814332A	PRRT2	NM_145239.3(PRRT2):c.880-1G>A	coding	Pathogenic
16	29814332	G	C	G29814332C	PRRT2	NM_145239.3(PRRT2):c.880-1G>C	coding	Pathogenic
16	29814332	G	T	G29814332T	PRRT2	NM_145239.3(PRRT2):c.880-1G>T	coding	Pathogenic
16	29814566	T	G	T29814566G	PRRT2	NM_145239.3(PRRT2):c.1013-62T>G	coding	Benign
16	29814612	C	T	C29814612T	PRRT2	NM_145239.3(PRRT2):c.1013-16C>T	coding	Benign/Likely_benign
16	29814636	T	C	T29814636C	PRRT2	NM_145239.3(PRRT2):c.1021T>C:p.Ter341Arg	coding	Pathogenic
16	29977793	C	T	C29977793T	TAOK2	NM_016151.4(TAOK2):c.21C>T:p.Ala7=	coding	Benign
16	29977895	C	T	C29977895T	TAOK2	NM_016151.4(TAOK2):c.123C>T:p.Ala41=	coding	Benign
16	29978788	C	T	C29978788T	TAOK2	NM_016151.4(TAOK2):c.307-11C>T	noncoding	Benign
16	29979477	C	G	C29979477G	TAOK2	NM_016151.4(TAOK2):c.624C>G:p.Val208=	coding	Benign
16	29981765	A	G	A29981765G	TAOK2	NM_016151.4(TAOK2):c.749+11A>G	noncoding	Benign
16	29981883	C	T	C29981883T	TAOK2	NM_016151.4(TAOK2):c.774C>T:p.Val258=	coding	Benign
16	29983077	C	T	C29983077T	TAOK2	NM_016151.4(TAOK2):c.1005C>T:p.Ala335=	coding	Benign
16	29983203	C	T	C29983203T	TAOK2	NM_016151.4(TAOK2):c.1131C>T:p.Asn377=	coding	Benign
16	29983565	G	A	G29983565A	TAOK2	NM_016151.4(TAOK2):c.1323G>A:p.Pro441=	coding	Benign
16	29983601	C	T	C29983601T	TAOK2	NM_016151.4(TAOK2):c.1359C>T:p.Ser453=	coding	Benign
16	29983655	C	T	C29983655T	TAOK2	NM_016151.4(TAOK2):c.1413C>T:p.Thr471=	coding	Benign
16	29985220	G	T	G29985220T	TAOK2	NM_016151.4(TAOK2):c.1430G>T:p.Arg477Leu	coding	Pathogenic
16	29986879	A	G	A29986879G	TAOK2	NM_016151.4(TAOK2):c.2607A>G:p.Thr869=	coding	Benign
16	29987149	G	C	G29987149C	TAOK2	NM_016151.4(TAOK2):c.2877G>C:p.Val959=	coding	Benign
16	29987904	G	A	G29987904A	TAOK2	NM_016151.4(TAOK2):c.3632G>A:p.Arg1211His	coding	Benign
16	30029475	C	T	C30029475T	TLCD3B	NM_031478.6(TLCD3B):c.166G>A:p.Gly56Ser	coding	Pathogenic
16	30067171	G	C	G30067171C	ALDOA	NM_001365304.2(LOC112694756):c.*489-63G>C	noncoding	Benign
16	30068403	T	C	T30068403C	ALDOA	NM_001243177.4(ALDOA):c.487-243T>C	noncoding	Benign
16	30068531	A	T	A30068531T	ALDOA	NM_001243177.4(ALDOA):c.487-115A>T	noncoding	Benign
16	30068742	G	A	G30068742A	ALDOA	NM_001243177.4(ALDOA):c.541+42G>A	noncoding	Benign
16	30068924	C	G	C30068924G	ALDOA	NM_001243177.4(ALDOA):c.648C>G:p.Leu216=	coding	Benign/Likely_benign
16	30069459	C	T	C30069459T	ALDOA	NM_001243177.4(ALDOA):c.787-40C>T	noncoding	Benign
16	30086871	A	G	A30086871G	TBX6	NM_004608.4(TBX6):c.840-20T>C	noncoding	Benign
16	30088635	G	A	G30088635A	TBX6	NM_004608.4(TBX6):c.769-20C>T	noncoding	Benign
16	30091481	T	C	T30091481C	TBX6	NM_004608.4(TBX6):c.-48-240A>G	noncoding	Benign
16	30187848	G	A	G30187848A	CORO1A	NM_007074.4(CORO1A):c.861+19G>A	noncoding	Benign
16	30187977	C	T	C30187977T	CORO1A	NM_007074.4(CORO1A):c.897C>T:p.Ser299=	coding	Benign
16	30376146	C	T	C30376146T	MYL11	NM_013292.5(MYL11):c.98C>T:p.Ala33Val	coding	Pathogenic/Likely_pathogenic
16	30377859	T	C	T30377859C	MYL11	NM_013292.5(MYL11):c.469T>C:p.Cys157Arg	coding	Pathogenic/Likely_pathogenic
16	30377860	G	T	G30377860T	MYL11	NM_013292.5(MYL11):c.470G>T:p.Cys157Phe	coding	Pathogenic/Likely_pathogenic
16	30377877	G	A	G30377877A	MYL11	NM_013292.5(MYL11):c.487G>A:p.Gly163Ser	coding	Pathogenic/Likely_pathogenic
16	30700361	A	C	A30700361C	SRCAP	NM_006662.3(SRCAP):c.-209-255A>C	noncoding	Benign
16	30700467	G	C	G30700467C	SRCAP	NM_006662.3(SRCAP):c.-209-149G>C	noncoding	Benign
16	30700951	G	T	G30700951T	SRCAP	NM_006662.3(SRCAP):c.54+73G>T	noncoding	Benign
16	30701000	C	A	C30701000A	SRCAP	NM_006662.3(SRCAP):c.54+122C>A	noncoding	Benign
16	30701084	C	T	C30701084T	SRCAP	NM_006662.3(SRCAP):c.54+206C>T	noncoding	Benign
16	30703955	A	C	A30703955C	SRCAP	NM_006662.3(SRCAP):c.55-109A>C	noncoding	Benign
16	30704141	C	T	C30704141T	SRCAP	NM_006662.3(SRCAP):c.132C>T:p.Gly44=	coding	Benign/Likely_benign
16	30707379	C	T	C30707379T	SRCAP	NM_006662.3(SRCAP):c.492+11C>T	noncoding	Benign
16	30710740	C	T	C30710740T	SRCAP	NM_006662.3(SRCAP):c.1135-14C>T	noncoding	Benign
16	30710781	C	G	C30710781G	SRCAP	NM_006662.3(SRCAP):c.1162C>G:p.Gln388Glu	coding	Benign
16	30712749	G	T	G30712749T	SRCAP	NM_006662.3(SRCAP):c.2064G>T:p.Arg688=	coding	Benign
16	30712900	C	T	C30712900T	SRCAP	NM_006662.3(SRCAP):c.2130+85C>T	noncoding	Benign
16	30713546	T	C	T30713546C	SRCAP	NM_006662.3(SRCAP):c.2328T>C:p.Thr776=	coding	Benign
16	30713831	G	A	G30713831A	SRCAP	NM_006662.3(SRCAP):c.2493+120G>A	noncoding	Benign
16	30716288	C	T	C30716288T	SRCAP	NM_006662.3(SRCAP):c.2631-5C>T	noncoding	Benign
16	30716422	C	T	C30716422T	SRCAP	NM_006662.3(SRCAP):c.2760C>T:p.Gly920=	coding	Benign
16	30720147	T	G	T30720147G	SRCAP	NM_006662.3(SRCAP):c.2818-15T>G	noncoding	Benign
16	30721085	C	G	C30721085G	SRCAP	NM_006662.3(SRCAP):c.3254-104C>G	noncoding	Benign
16	30721467	C	T	C30721467T	SRCAP	NM_006662.3(SRCAP):c.3532C>T:p.Arg1178Cys	coding	Benign
16	30723158	C	G	C30723158G	SRCAP	NM_006662.3(SRCAP):c.4088C>G:p.Ala1363Gly	coding	Benign
16	30723967	C	A	C30723967A	SRCAP	NM_006662.3(SRCAP):c.4543C>A:p.Leu1515Met	coding	Benign
16	30724746	G	A	G30724746A	SRCAP	NM_006662.3(SRCAP):c.5322G>A:p.Ser1774=	coding	Benign
16	30728821	T	C	T30728821C	SRCAP	NM_006662.3(SRCAP):c.5659-145T>C	noncoding	Benign
16	30733505	C	T	C30733505T	SRCAP	NM_006662.3(SRCAP):c.6297+56C>T	noncoding	Benign
16	30733889	C	G	C30733889G	SRCAP	NM_006662.3(SRCAP):c.6495-5C>G	noncoding	Benign
16	30734476	C	G	C30734476G	SRCAP	NM_006662.3(SRCAP):c.6610-20C>G	noncoding	Benign
16	30734550	G	A	G30734550A	SRCAP	NM_006662.3(SRCAP):c.6664G>A:p.Val2222Met	coding	Benign
16	30734655	C	T	C30734655T	SRCAP	NM_006662.3(SRCAP):c.6729+40C>T	noncoding	Benign
16	30737229	G	T	G30737229T	SRCAP	NM_006662.3(SRCAP):c.7189G>T:p.Glu2397Ter	coding	Pathogenic
16	30737259	C	T	C30737259T	SRCAP	NM_006662.3(SRCAP):c.7219C>T:p.Gln2407Ter	coding	Pathogenic
16	30737817	C	T	C30737817T	SRCAP	NM_006662.3(SRCAP):c.7777C>T:p.Leu2593=	coding	Benign
16	30737904	C	T	C30737904T	SRCAP	NM_006662.3(SRCAP):c.7864C>T:p.Gln2622Ter	coding	Pathogenic
16	30738446	C	T	C30738446T	SRCAP	NM_006662.3(SRCAP):c.8406C>T:p.Ser2802=	coding	Benign
16	30738926	C	T	C30738926T	SRCAP	NM_006662.3(SRCAP):c.8886C>T:p.Ser2962=	coding	Benign
16	30739022	C	G	C30739022G	SRCAP	NM_006662.3(SRCAP):c.8982C>G:p.Thr2994=	coding	Benign
16	30748227	C	T	C30748227T	PHKG2	Single_allele	noncoding	Benign
16	30751236	C	T	C30751236T	PHKG2	NM_000294.3(PHKG2):c.226C>T:p.Arg76Ter	coding	Pathogenic
16	30751239	G	A	G30751239A	PHKG2	NM_000294.3(PHKG2):c.229G>A:p.Glu77Lys	coding	Pathogenic/Likely_pathogenic
16	30751384	C	G	C30751384G	PHKG2	NM_000294.3(PHKG2):c.271+103C>G	noncoding	Benign
16	30753503	C	T	C30753503T	PHKG2	NM_000294.3(PHKG2):c.502C>T:p.Arg168Ter	coding	Pathogenic
16	30756588	A	C	A30756588C	PHKG2	NM_000294.3(PHKG2):c.802-2A>C	noncoding	Pathogenic
16	30756716	G	A	G30756716A	PHKG2	NM_000294.3(PHKG2):c.927+1G>A	coding	Pathogenic
16	30756732	C	G	C30756732G	PHKG2	NM_000294.3(PHKG2):c.927+17C>G	noncoding	Benign/Likely_benign
16	30902821	C	T	C30902821T	CTF1	NM_001330.5(CTF1):c.*282C>T	noncoding	Benign
16	30964211	C	T	C30964211T	SETD1A	NM_014712.3(SETD1A):c.757C>T:p.Arg253Ter	coding	Pathogenic
16	30965668	C	T	C30965668T	SETD1A	NM_014712.3(SETD1A):c.1787C>T:p.Pro596Leu	coding	Benign
16	30969581	T	C	T30969581C	SETD1A	NM_014712.3(SETD1A):c.2929-21T>C	noncoding	Benign
16	30985474	C	T	C30985474T	HSD3B7	NM_025193.4(HSD3B7):c.-7+177C>T	noncoding	Benign
16	30985550	C	G	C30985550G	HSD3B7	NM_025193.4(HSD3B7):c.-6-103C>G	noncoding	Benign
16	30985551	G	C	G30985551C	HSD3B7	NM_025193.4(HSD3B7):c.-6-102G>C	noncoding	Benign
16	30986672	G	T	G30986672T	HSD3B7	NM_025193.4(HSD3B7):c.499G>T:p.Glu167Ter	coding	Pathogenic
16	30986831	T	C	T30986831C	HSD3B7	NM_025193.4(HSD3B7):c.532-9T>C	noncoding	Benign
16	30993605	C	T	C30993605T	STX1B	NM_052874.5(STX1B):c.538-121G>A	noncoding	Benign
16	30996681	A	G	A30996681G	STX1B	NM_052874.5(STX1B):c.537+2T>C	noncoding	Pathogenic
16	30996922	C	T	C30996922T	STX1B	NM_052874.5(STX1B):c.463+29G>A	noncoding	Benign
16	30997570	C	A	C30997570A	STX1B	NM_052874.5(STX1B):c.286G>T:p.Glu96Ter	coding	Pathogenic
16	30997584	G	A	G30997584A	STX1B	NM_052874.5(STX1B):c.281-9C>T	noncoding	Benign
16	30997704	T	C	T30997704C	STX1B	NM_052874.5(STX1B):c.281-129A>G	noncoding	Benign
16	31000994	G	A	G31000994A	STX1B	NM_052874.5(STX1B):c.214C>T:p.Gln72Ter	coding	Pathogenic
16	31001078	C	T	C31001078T	STX1B	NM_052874.5(STX1B):c.205+16G>A	noncoding	Benign
16	31001139	T	A	T31001139A	STX1B	NM_052874.5(STX1B):c.160A>T:p.Lys54Ter	coding	Pathogenic
16	31001208	C	T	C31001208T	STX1B	NM_052874.5(STX1B):c.106-15G>A	noncoding	Benign
16	31001460	G	A	G31001460A	STX1B	NM_052874.5(STX1B):c.105+69C>T	noncoding	Benign
16	31001492	G	T	G31001492T	STX1B	NM_052874.5(STX1B):c.105+37C>A	noncoding	Benign
16	31001538	G	A	G31001538A	STX1B	NM_052874.5(STX1B):c.96C>T:p.Phe32=	coding	Benign
16	31001823	C	T	C31001823T	STX1B	NM_052874.5(STX1B):c.31-220G>A	noncoding	Benign
16	31010559	G	T	G31010559T	STX1B	NM_052874.5(STX1B):c.-163C>A	noncoding	Benign
16	31061817	G	A	G31061817A	ZNF668	NM_024706.5(ZNF668):c.1111C>T:p.Arg371Ter	coding	Pathogenic
16	31061973	G	A	G31061973A	ZNF668	NM_024706.5(ZNF668):c.955C>T:p.Gln319Ter	coding	Pathogenic
16	31063854	G	A	G31063854A	ZNF668	NM_024706.5(ZNF668):c.606C>T:p.Gly202=	coding	Benign
16	31094032	G	A	G31094032A	VKORC1	NM_024006.6(VKORC1):c.173+525C>T	noncoding	Benign
16	31109564	C	T	C31109564T	BCKDK	NM_005881.4(BCKDK):c.249C>T:p.Asp83=	coding	Benign
16	31110391	C	T	C31110391T	BCKDK	NM_005881.4(BCKDK):c.544-10C>T	noncoding	Benign
16	31110908	C	T	C31110908T	BCKDK	NM_005881.4(BCKDK):c.716+147C>T	noncoding	Benign
16	31111250	C	T	C31111250T	BCKDK	NM_005881.4(BCKDK):c.845+31C>T	noncoding	Benign
16	31112185	C	T	C31112185T	BCKDK	NM_005881.4(BCKDK):c.1159C>T:p.Gln387Ter	coding	Pathogenic
16	31120249	A	G	A31120249G	KAT8	NM_032188.3(KAT8):c.275A>G:p.His92Arg	coding	Pathogenic
16	31120348	G	A	G31120348A	KAT8	NM_032188.3(KAT8):c.296G>A:p.Arg99Gln	coding	Pathogenic
16	31130505	A	G	A31130505G	KAT8	NM_032188.3(KAT8):c.1056A>G:p.Pro352=	coding	Benign
16	31130559	A	G	A31130559G	KAT8	NM_032188.3(KAT8):c.1110A>G:p.Leu370=	coding	Benign
16	31182540	G	A	G31182540A	FUS	NM_004960.4(FUS):c.66G>A:p.Gly22=	coding	Benign
16	31184418	C	T	C31184418T	FUS	NM_004960.4(FUS):c.523+22C>T	noncoding	Benign
16	31184438	C	T	C31184438T	FUS	NM_004960.4(FUS):c.523+42C>T	noncoding	Benign
16	31184444	T	C	T31184444C	FUS	NM_004960.4(FUS):c.523+48T>C	noncoding	Benign
16	31184784	T	C	T31184784C	FUS	NM_004960.4(FUS):c.524-155T>C	noncoding	Benign
16	31184918	T	C	T31184918C	FUS	NM_004960.4(FUS):c.524-21T>C	noncoding	Benign/Likely_benign
16	31186777	C	T	C31186777T	FUS	NM_004960.4(FUS):c.765-25C>T	noncoding	Benign
16	31187015	G	C	G31187015C	FUS	NM_004960.4(FUS):c.799+179G>C	noncoding	Benign
16	31188078	G	T	G31188078T	FUS	NM_004960.4(FUS):c.800-247G>T	noncoding	Benign
16	31188578	G	T	G31188578T	FUS	NM_004960.4(FUS):c.832+221G>T	noncoding	Benign
16	31189094	C	T	C31189094T	FUS	NM_004960.4(FUS):c.833-29C>T	noncoding	Benign/Likely_benign
16	31189106	C	T	C31189106T	FUS	NM_004960.4(FUS):c.833-17C>T	noncoding	Benign
16	31189988	G	A	G31189988A	FUS	NM_004960.4(FUS):c.1067-52G>A	noncoding	Benign
16	31190264	A	G	A31190264G	FUS	NM_004960.4(FUS):c.1169-11A>G	noncoding	Benign/Likely_benign
16	31191235	A	T	A31191235T	FUS	NM_004960.4(FUS):c.1541+125A>T	noncoding	Benign
16	31261808	T	C	T31261808C	ITGAM	NM_000632.4(ITGAM):c.134+11T>C	noncoding	Benign
16	31265490	G	A	G31265490A	ITGAM	NM_000632.4(ITGAM):c.230G>A:p.Arg77His	coding	Benign
16	31265894	C	T	C31265894T	ITGAM	NM_000632.4(ITGAM):c.309+13C>T	noncoding	Benign
16	31271843	G	A	G31271843A	ITGAM	NM_000632.4(ITGAM):c.559-4G>A	noncoding	Benign
16	31271969	G	A	G31271969A	ITGAM	NM_000632.4(ITGAM):c.681G>A:p.Thr227=	coding	Benign
16	31272002	C	G	C31272002G	ITGAM	NM_000632.4(ITGAM):c.704+10C>G	noncoding	Benign
16	31273397	G	A	G31273397A	ITGAM	NM_000632.4(ITGAM):c.737G>A:p.Arg246Gln	coding	Benign
16	31275643	T	A	T31275643A	ITGAM	NM_000632.4(ITGAM):c.953T>A:p.Phe318Tyr	coding	Benign
16	31278075	T	C	T31278075C	ITGAM	NM_000632.4(ITGAM):c.1322T>C:p.Met441Thr	coding	Benign
16	31297669	G	T	G31297669T	ITGAM	NM_000632.4(ITGAM):c.1497+15G>T	noncoding	Benign
16	31297670	A	C	A31297670C	ITGAM	NM_000632.4(ITGAM):c.1497+16A>C	noncoding	Benign
16	31297839	A	G	A31297839G	ITGAM	NM_000632.4(ITGAM):c.1592A>G:p.Asn531Ser	coding	Benign
16	31321334	C	T	C31321334T	ITGAM	NM_000632.4(ITGAM):c.1801C>T:p.Leu601=	coding	Benign
16	31325398	G	A	G31325398A	ITGAM	NM_000632.4(ITGAM):c.2499G>A:p.Thr833=	coding	Benign
16	31325567	C	T	C31325567T	ITGAM	NM_000632.4(ITGAM):c.2573C>T:p.Ala858Val	coding	Benign
16	31325591	T	C	T31325591C	ITGAM	NM_000632.4(ITGAM):c.2597T>C:p.Ile866Thr	coding	Benign
16	31326873	G	A	G31326873A	ITGAM	NM_000632.4(ITGAM):c.2646G>A:p.Thr882=	coding	Benign
16	31326897	C	G	C31326897G	ITGAM	NM_000632.4(ITGAM):c.2670C>G:p.Ser890=	coding	Benign
16	31330067	G	A	G31330067A	ITGAM	NM_000632.4(ITGAM):c.2977-14G>A	noncoding	Benign
16	31330104	C	G	C31330104G	ITGAM	NM_000632.4(ITGAM):c.3000C>G:p.Thr1000=	coding	Benign
16	31330542	G	C	G31330542C	ITGAM	NM_000632.4(ITGAM):c.3213G>C:p.Glu1071Asp	coding	Benign
16	31331287	T	C	T31331287C	ITGAM	NM_000632.4(ITGAM):c.3387+12T>C	noncoding	Benign
16	31331295	C	G	C31331295G	ITGAM	NM_000632.4(ITGAM):c.3387+20C>G	noncoding	Benign
16	31331684	C	T	C31331684T	ITGAM	NM_000632.4(ITGAM):c.3436C>T:p.Pro1146Ser	coding	Benign
16	31363214	C	G	C31363214G	ITGAX	NM_000887.5(ITGAX):c.1550C>G:p.Pro517Arg	coding	Benign
16	31459565	T	A	T31459565A	ARMC5	NM_001105247.2(ARMC5):c.41T>A:p.Phe14Tyr	coding	Benign
16	31461954	A	G	A31461954G	ARMC5	NM_001105247.2(ARMC5):c.508A>G:p.Ile170Val	coding	Benign
16	31462586	C	T	C31462586T	ARMC5	NM_001105247.2(ARMC5):c.1039C>T:p.Pro347Ser	coding	Benign
16	31466371	C	T	C31466371T	ARMC5	NM_001105247.2(ARMC5):c.2290C>T:p.Arg764Ter	coding	Pathogenic
16	31486487	A	T	A31486487T	SLC5A2	NM_003041.4(SLC5A2):c.574+212A>T	noncoding	Benign
16	31488463	C	T	C31488463T	SLC5A2	NM_003041.4(SLC5A2):c.1102C>T:p.Arg368Trp	coding	Pathogenic/Likely_pathogenic
16	31488773	G	A	G31488773A	SLC5A2	NM_003041.4(SLC5A2):c.1280+1G>A	coding	Pathogenic
16	46661807	T	G	T46661807G	VPS35	NM_018206.6(VPS35):c.2122A>C:p.Asn708His	coding	Benign
16	46662372	G	A	G46662372A	VPS35	NM_018206.6(VPS35):c.1938C>T:p.His646=	coding	Benign
16	46663186	A	G	A46663186G	VPS35	NM_018206.6(VPS35):c.1648-24T>C	noncoding	Benign
16	46668828	T	C	T46668828C	VPS35	NM_018206.6(VPS35):c.1647+102A>G	noncoding	Benign
16	46671590	T	C	T46671590C	VPS35	NM_018206.6(VPS35):c.1524+115A>G	noncoding	Benign
16	46671664	C	G	C46671664G	VPS35	NM_018206.6(VPS35):c.1524+41G>C	noncoding	Benign
16	46674676	A	C	A46674676C	VPS35	NM_018206.6(VPS35):c.915-16T>G	noncoding	Benign
16	46676957	T	C	T46676957C	VPS35	NM_018206.6(VPS35):c.805-265A>G	noncoding	Benign
16	46680617	A	G	A46680617G	VPS35	NM_018206.6(VPS35):c.506+54T>C	noncoding	Benign
16	46681279	G	A	G46681279A	VPS35	NM_018206.6(VPS35):c.323+98C>T	noncoding	Benign
16	46683400	A	G	A46683400G	VPS35	NM_018206.6(VPS35):c.102+108T>C	noncoding	Benign
16	46689458	A	C	A46689458C	ORC6	Single_allele	noncoding	Benign
16	46689770	G	A	G46689770A	ORC6	NM_014321.4(ORC6):c.65G>A:p.Arg22Lys	coding	Pathogenic
16	46690972	A	C	A46690972C	ORC6	NM_014321.4(ORC6):c.66-19A>C	noncoding	Benign
16	46690996	C	T	C46690996T	ORC6	NM_014321.4(ORC6):c.71C>T:p.Ala24Val	coding	Pathogenic
16	46695359	T	C	T46695359C	ORC6	NM_014321.4(ORC6):c.450-203T>C	noncoding	Benign
16	46707782	T	G	T46707782G	MYLK3	NM_182493.3(MYLK3):c.2401-19A>C	noncoding	Benign
16	46710797	A	G	A46710797G	MYLK3	NM_182493.3(MYLK3):c.2115-8T>C	noncoding	Benign
16	46721179	C	T	C46721179T	MYLK3	NM_182493.3(MYLK3):c.1929G>A:p.Leu643=	coding	Benign
16	46729004	G	A	G46729004A	MYLK3	NM_182493.3(MYLK3):c.1772+20C>T	noncoding	Benign
16	46730673	A	G	A46730673G	MYLK3	NM_182493.3(MYLK3):c.1488T>C:p.Pro496=	coding	Benign
16	46732224	A	C	A46732224C	MYLK3	NM_182493.3(MYLK3):c.1446T>G:p.Ala482=	coding	Benign
16	46732367	C	G	C46732367G	MYLK3	NM_182493.3(MYLK3):c.1303G>C:p.Asp435His	coding	Benign
16	46737884	C	T	C46737884T	MYLK3	NM_182493.3(MYLK3):c.828G>A:p.Pro276=	coding	Benign
16	46737907	C	T	C46737907T	MYLK3	NM_182493.3(MYLK3):c.805G>A:p.Gly269Ser	coding	Benign
16	46738011	T	C	T46738011C	MYLK3	NM_182493.3(MYLK3):c.701A>G:p.Gln234Arg	coding	Benign
16	46738064	G	A	G46738064A	MYLK3	NM_182493.3(MYLK3):c.648C>T:p.Pro216=	coding	Benign
16	46740087	C	A	C46740087A	MYLK3	NM_182493.3(MYLK3):c.538G>T:p.Val180Leu	coding	Benign
16	46747948	G	A	G46747948A	MYLK3	NM_182493.3(MYLK3):c.246C>T:p.Pro82=	coding	Benign
16	46747960	A	G	A46747960G	MYLK3	NM_182493.3(MYLK3):c.234T>C:p.Ala78=	coding	Benign
16	46748095	G	A	G46748095A	MYLK3	NM_182493.3(MYLK3):c.99C>T:p.Asn33=	coding	Benign
16	47463963	G	A	G47463963A	PHKB	NM_000293.3(PHKB):c.76+2537G>A	coding	Benign
16	47515686	G	A	G47515686A	PHKB	NM_000293.3(PHKB):c.594+85G>A	noncoding	Benign
16	47547501	G	A	G47547501A	PHKB	NM_000293.3(PHKB):c.663G>A:p.Trp221Ter	coding	Pathogenic
16	47593521	G	T	G47593521T	PHKB	NM_000293.3(PHKB):c.1090G>T:p.Glu364Ter	coding	Pathogenic/Likely_pathogenic
16	47594135	A	G	A47594135G	PHKB	NM_000293.3(PHKB):c.1127-2A>G	noncoding	Pathogenic/Likely_pathogenic
16	47596453	C	T	C47596453T	PHKB	NM_000293.3(PHKB):c.1285C>T:p.Arg429Ter	coding	Pathogenic
16	47596628	T	C	T47596628C	PHKB	NM_000293.3(PHKB):c.1363+97T>C	noncoding	Benign
16	47610824	A	G	A47610824G	PHKB	NM_000293.3(PHKB):c.1364-2A>G	noncoding	Pathogenic
16	47648612	C	A	C47648612A	PHKB	NM_000293.3(PHKB):c.1688C>A:p.Ser563Ter	coding	Pathogenic
16	47649212	C	T	C47649212T	PHKB	NM_000293.3(PHKB):c.1797+8C>T	noncoding	Benign/Likely_benign
16	47660548	C	T	C47660548T	PHKB	NM_000293.3(PHKB):c.2014C>T:p.Arg672Ter	coding	Pathogenic/Likely_pathogenic
16	47660910	G	T	G47660910T	PHKB	NM_000293.3(PHKB):c.2196+91G>T	noncoding	Benign
16	47661548	G	A	G47661548A	PHKB	NM_000293.3(PHKB):c.2197-171G>A	noncoding	Benign
16	47664805	T	A	T47664805A	PHKB	NM_000293.3(PHKB):c.2337-80T>A	noncoding	Benign
16	47665940	A	C	A47665940C	PHKB	NM_000293.3(PHKB):c.2427+965A>C	noncoding	Pathogenic
16	47693121	G	C	G47693121C	PHKB	NM_000293.3(PHKB):c.2766-257G>C	noncoding	Benign
16	47693364	G	T	G47693364T	PHKB	NM_000293.3(PHKB):c.2766-14G>T	noncoding	Benign/Likely_benign
16	48208468	G	A	G48208468A	ABCC11	NM_001370497.1(ABCC11):c.1637C>T:p.Thr546Met	coding	Benign
16	48361909	C	G	C48361909G	SIAH1	NM_003031.4(SIAH1):c.520G>C:p.Gly174Arg	coding	Pathogenic
16	48361927	T	C	T48361927C	SIAH1	NM_003031.4(SIAH1):c.502A>G:p.Thr168Ala	coding	Pathogenic
16	48362046	C	A	C48362046A	SIAH1	NM_003031.4(SIAH1):c.383G>T:p.Cys128Phe	coding	Pathogenic
16	48362308	A	C	A48362308C	SIAH1	NM_003031.4(SIAH1):c.121T>G:p.Cys41Gly	coding	Pathogenic
16	49491327	C	T	C49491327T	ZNF423	NM_001379286.1(ZNF423):c.3850-23G>A	noncoding	Benign
16	49523530	A	C	A49523530C	ZNF423	NM_001379286.1(ZNF423):c.3849+94T>G	noncoding	Benign
16	49523571	C	T	C49523571T	ZNF423	NM_001379286.1(ZNF423):c.3849+53G>A	noncoding	Benign
16	49525255	C	T	C49525255T	ZNF423	NM_001379286.1(ZNF423):c.3733+108G>A	noncoding	Benign
16	49525510	G	A	G49525510A	ZNF423	NM_001379286.1(ZNF423):c.3602-16C>T	noncoding	Benign
16	49626115	A	G	A49626115G	ZNF423	NM_001379286.1(ZNF423):c.3601+55T>C	noncoding	Benign
16	49626272	A	G	A49626272G	ZNF423	NM_001379286.1(ZNF423):c.3517-18T>C	noncoding	Benign/Likely_benign
16	49637349	G	A	G49637349A	ZNF423	NM_001379286.1(ZNF423):c.1827C>T:p.Ala609=	coding	Benign
16	49637811	C	G	C49637811G	ZNF423	NM_001379286.1(ZNF423):c.1365G>C:p.Leu455=	coding	Benign
16	49638045	G	A	G49638045A	ZNF423	NM_001379286.1(ZNF423):c.1131C>T:p.Ser377=	coding	Benign/Likely_benign
16	49638723	G	A	G49638723A	ZNF423	NM_001379286.1(ZNF423):c.453C>T:p.Cys151=	coding	Benign
16	49731037	C	T	C49731037T	ZNF423	NM_001379286.1(ZNF423):c.101-66G>A	noncoding	Benign
16	49789328	G	A	G49789328A	ZNF423	NM_001379286.1(ZNF423):c.100+159C>T	noncoding	Benign
16	49822780	G	C	G49822780C	ZNF423	NM_001379286.1(ZNF423):c.40+32955C>G	noncoding	Benign
16	49822876	T	C	T49822876C	ZNF423	NM_001379286.1(ZNF423):c.40+32859A>G	noncoding	Benign
16	50068868	G	T	G50068868T	HEATR3	NM_182922.4(HEATR3):c.399+1G>T	coding	Pathogenic
16	50070178	T	C	T50070178C	HEATR3	NM_182922.4(HEATR3):c.400T>C:p.Cys134Arg	coding	Pathogenic
16	50075667	C	T	C50075667T	HEATR3	NM_182922.4(HEATR3):c.719C>T:p.Pro240Leu	coding	Pathogenic
16	50084615	G	A	G50084615A	HEATR3	NM_182922.4(HEATR3):c.1337G>A:p.Cys446Tyr	coding	Pathogenic
16	50102266	G	A	G50102266A	HEATR3	NM_182922.4(HEATR3):c.1751G>A:p.Gly584Glu	coding	Pathogenic/Likely_pathogenic
16	50707551	A	C	A50707551C	NOD2	NM_001370466.1(NOD2):c.460-304A>C	noncoding	Benign
16	50708151	G	A	G50708151A	NOD2	NM_001370466.1(NOD2):c.565+191G>A	noncoding	Benign
16	50710861	C	T	C50710861T	NOD2	NM_001370466.1(NOD2):c.869C>T:p.Ala290Val	coding	Benign
16	50711456	G	T	G50711456T	NOD2	NM_001370466.1(NOD2):c.1464G>T:p.Leu488=	coding	Benign/Likely_benign
16	50711709	G	A	G50711709A	NOD2	NM_001370466.1(NOD2):c.1717G>A:p.Glu573Lys	coding	Pathogenic
16	50712092	G	A	G50712092A	NOD2	NM_001370466.1(NOD2):c.2100G>A:p.Pro700=	coding	Benign
16	50712152	C	T	C50712152T	NOD2	NM_001370466.1(NOD2):c.2160C>T:p.Tyr720=	coding	Benign
16	50712635	C	G	C50712635G	NOD2	NM_001370466.1(NOD2):c.2381+262C>G	noncoding	Benign
16	50717264	T	G	T50717264G	NOD2	NM_001370466.1(NOD2):c.2549+290T>G	noncoding	Benign
16	50722387	C	G	C50722387G	NOD2	NM_001370466.1(NOD2):c.2634-235C>G	noncoding	Benign
16	50722970	A	G	A50722970G	NOD2	NM_001370466.1(NOD2):c.2717+265A>G	noncoding	Benign
16	50725358	T	A	T50725358A	NOD2	NM_001370466.1(NOD2):c.2802-131T>A	noncoding	Benign
16	50729802	G	C	G50729802C	NOD2	NM_001370466.1(NOD2):c.2886-16G>C	noncoding	Benign/Likely_benign
16	50729807	T	G	T50729807G	NOD2	NM_001370466.1(NOD2):c.2886-11T>G	noncoding	Benign
16	50731792	C	A	C50731792A	NOD2	NM_001370466.1(NOD2):c.3015C>A:p.Gly1005=	coding	Benign
16	50741910	G	T	G50741910T	CYLD	Single_allele	noncoding	Benign
16	50741954	G	C	G50741954C	CYLD	Single_allele	noncoding	Benign
16	50742256	C	T	C50742256T	CYLD	NM_001378743.1(CYLD):c.-204+132C>T	noncoding	Benign
16	50749517	A	G	A50749517G	CYLD	NM_001378743.1(CYLD):c.-123-59A>G	noncoding	Benign
16	50751613	C	T	C50751613T	CYLD	NM_001378743.1(CYLD):c.514C>T:p.Arg172Cys	coding	Benign
16	50775005	A	G	A50775005G	CYLD	NM_001378743.1(CYLD):c.914-161A>G	noncoding	Benign
16	50775991	C	G	C50775991G	CYLD	NM_001378743.1(CYLD):c.923-188C>G	noncoding	Benign
16	50777561	T	A	T50777561A	CYLD	NM_001378743.1(CYLD):c.1022-264T>A	noncoding	Benign
16	50777596	G	A	G50777596A	CYLD	NM_001378743.1(CYLD):c.1022-229G>A	noncoding	Benign
16	50778053	G	A	G50778053A	CYLD	NM_001378743.1(CYLD):c.1138+112G>A	noncoding	Benign
16	50779241	T	C	T50779241C	CYLD	NM_001378743.1(CYLD):c.1139-424T>C	noncoding	Benign
16	50780086	G	A	G50780086A	CYLD	NM_001378743.1(CYLD):c.1518+42G>A	noncoding	Benign
16	50780960	A	T	A50780960T	CYLD	NM_001378743.1(CYLD):c.1519-286A>T	noncoding	Benign
16	50781521	C	T	C50781521T	CYLD	NM_001378743.1(CYLD):c.1684+110C>T	noncoding	Benign
16	50782210	A	C	A50782210C	CYLD	NM_001378743.1(CYLD):c.1685-115A>C	noncoding	Benign
16	50782239	A	G	A50782239G	CYLD	NM_001378743.1(CYLD):c.1685-86A>G	noncoding	Benign
16	50782749	C	T	C50782749T	CYLD	NM_001378743.1(CYLD):c.1826+283C>T	noncoding	Benign
16	50784021	A	G	A50784021G	CYLD	NM_001378743.1(CYLD):c.1827-308A>G	noncoding	Benign
16	50787056	G	A	G50787056A	CYLD	NM_001378743.1(CYLD):c.2041+110G>A	noncoding	Benign
16	50791604	A	G	A50791604G	CYLD	NM_001378743.1(CYLD):c.2155A>G:p.Met719Val	coding	Pathogenic
16	50791731	T	A	T50791731A	CYLD	NM_001378743.1(CYLD):c.2241+41T>A	noncoding	Benign
16	50792551	G	T	G50792551T	CYLD	NM_001378743.1(CYLD):c.2242-46G>T	noncoding	Benign
16	50793031	G	A	G50793031A	CYLD	NM_001378743.1(CYLD):c.2350+326G>A	noncoding	Benign
16	50793306	A	G	A50793306G	CYLD	NM_001378743.1(CYLD):c.2351-240A>G	noncoding	Benign
16	50793690	A	G	A50793690G	CYLD	NM_001378743.1(CYLD):c.2469+26A>G	noncoding	Benign
16	51137124	G	C	G51137124C	SALL1	NM_002968.3(SALL1):c.3963C>G:p.Ile1321Met	coding	Benign
16	51137358	G	A	G51137358A	SALL1	NM_002968.3(SALL1):c.3729C>T:p.Asn1243=	coding	Benign
16	51137422	G	A	G51137422A	SALL1	NM_002968.3(SALL1):c.3665C>T:p.Ala1222Val	coding	Benign/Likely_benign
16	51137484	G	A	G51137484A	SALL1	NM_002968.3(SALL1):c.3603C>T:p.Gly1201=	coding	Benign
16	51138414	C	G	C51138414G	SALL1	NM_002968.3(SALL1):c.3534+274G>C	noncoding	Benign
16	51138648	G	C	G51138648C	SALL1	NM_002968.3(SALL1):c.3534+40C>G	noncoding	Benign
16	51138842	G	A	G51138842A	SALL1	NM_002968.3(SALL1):c.3380C>T:p.Pro1127Leu	coding	Benign
16	51138900	C	G	C51138900G	SALL1	NM_002968.3(SALL1):c.3322G>C:p.Val1108Leu	coding	Benign
16	51138912	G	C	G51138912C	SALL1	NM_002968.3(SALL1):c.3310C>G:p.Pro1104Ala	coding	Benign
16	51139062	G	A	G51139062A	SALL1	NM_002968.3(SALL1):c.3160C>T:p.Arg1054Ter	coding	Pathogenic/Likely_pathogenic
16	51139102	T	C	T51139102C	SALL1	NM_002968.3(SALL1):c.3120A>G:p.Thr1040=	coding	Benign/Likely_benign
16	51139470	C	T	C51139470T	SALL1	NM_002968.3(SALL1):c.2752G>A:p.Ala918Thr	coding	Benign/Likely_benign
16	51139891	G	A	G51139891A	SALL1	NM_002968.3(SALL1):c.2331C>T:p.Asn777=	coding	Benign
16	51140214	A	G	A51140214G	SALL1	NM_002968.3(SALL1):c.2008T>C:p.Phe670Leu	coding	Benign
16	51140272	G	A	G51140272A	SALL1	NM_002968.3(SALL1):c.1950C>T:p.Gly650=	coding	Benign
16	51140311	C	T	C51140311T	SALL1	NM_002968.3(SALL1):c.1911G>A:p.Ala637=	coding	Benign/Likely_benign
16	51140319	G	A	G51140319A	SALL1	NM_002968.3(SALL1):c.1903C>T:p.Pro635Ser	coding	Benign/Likely_benign
16	51140484	T	C	T51140484C	SALL1	NM_002968.3(SALL1):c.1738A>G:p.Ile580Val	coding	Benign/Likely_benign
16	51140657	G	A	G51140657A	SALL1	NM_002968.3(SALL1):c.1565C>T:p.Thr522Met	coding	Benign
16	51140895	C	T	C51140895T	SALL1	NM_002968.3(SALL1):c.1327G>A:p.Asp443Asn	coding	Benign
16	51140900	G	T	G51140900T	SALL1	NM_002968.3(SALL1):c.1322C>A:p.Thr441Asn	coding	Benign/Likely_benign
16	51140994	C	A	C51140994A	SALL1	NM_002968.3(SALL1):c.1228G>T:p.Gly410Ter	coding	Pathogenic
16	51141110	G	C	G51141110C	SALL1	NM_002968.3(SALL1):c.1112C>G:p.Ser371Ter	coding	Pathogenic
16	51141398	A	T	A51141398T	SALL1	NM_002968.3(SALL1):c.824T>A:p.Leu275Ter	coding	Pathogenic
16	51141510	G	A	G51141510A	SALL1	NM_002968.3(SALL1):c.712C>T:p.Gln238Ter	coding	Pathogenic
16	51141513	G	A	G51141513A	SALL1	NM_002968.3(SALL1):c.709C>T:p.Gln237Ter	coding	Pathogenic
16	51141621	G	A	G51141621A	SALL1	NM_002968.3(SALL1):c.601C>T:p.Gln201Ter	coding	Pathogenic/Likely_pathogenic
16	51142003	G	A	G51142003A	SALL1	NM_002968.3(SALL1):c.219C>T:p.Ile73=	coding	Benign
16	51142093	G	A	G51142093A	SALL1	NM_002968.3(SALL1):c.129C>T:p.His43=	coding	Benign/Likely_benign
16	51142236	T	C	T51142236C	SALL1	NM_002968.3(SALL1):c.77-91A>G	noncoding	Benign
16	51150979	G	A	G51150979A	SALL1	NM_002968.3(SALL1):c.76+187C>T	noncoding	Benign
16	51151203	T	C	T51151203C	SALL1	NM_002968.3(SALL1):c.39A>G:p.Gln13=	coding	Benign
16	53605296	G	T	G53605296T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3835+185C>A	noncoding	Benign
16	53636729	G	A	G53636729A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3221-217C>T	noncoding	Benign
16	53641580	C	A	C53641580A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2684-105G>T	noncoding	Benign
16	53645748	G	A	G53645748A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2560C>T:p.Arg854Ter	coding	Pathogenic/Likely_pathogenic
16	53645786	T	C	T53645786C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2522A>G:p.His841Arg	coding	Benign
16	53645911	G	T	G53645911T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2397C>A:p.Cys799Ter	coding	Pathogenic
16	53646182	T	C	T53646182C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2305-179A>G	noncoding	Benign
16	53646283	T	C	T53646283C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2305-280A>G	noncoding	Benign
16	53648873	G	A	G53648873A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2304+91C>T	noncoding	Benign
16	53649029	G	A	G53649029A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2239C>T:p.Arg747Ter	coding	Pathogenic
16	53652396	A	G	A53652396G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2152+139T>C	noncoding	Benign
16	53652594	A	C	A53652594C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2093T>G:p.Leu698Ter	coding	Pathogenic
16	53652709	G	A	G53652709A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1978C>T:p.Gln660Ter	coding	Pathogenic
16	53652782	A	C	A53652782C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1905T>G:p.Tyr635Ter	coding	Pathogenic
16	53652968	G	A	G53652968A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1719C>T:p.Ala573=	coding	Benign
16	53653199	C	T	C53653199T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1700-212G>A	noncoding	Benign
16	53656526	C	A	C53656526A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1645G>T:p.Glu549Ter	coding	Pathogenic
16	53658122	C	T	C53658122T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1401+292G>A	noncoding	Benign
16	53658326	C	T	C53658326T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1401+88G>A	noncoding	Benign
16	53658443	C	A	C53658443A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1372G>T:p.Glu458Ter	coding	Pathogenic/Likely_pathogenic
16	53658862	G	A	G53658862A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1260C>T:p.Leu420=	coding	Benign
16	53658870	C	A	C53658870A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1252G>T:p.Glu418Ter	coding	Pathogenic
16	53664803	C	T	C53664803T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1243+67G>A	noncoding	Benign
16	53664888	T	A	T53664888A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1225A>T:p.Arg409Ter	coding	Pathogenic
16	53664942	G	A	G53664942A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1171C>T:p.Gln391Ter	coding	Pathogenic
16	53664963	G	A	G53664963A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1150C>T:p.Gln384Ter	coding	Pathogenic
16	53672782	C	T	C53672782T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1029+88G>A	noncoding	Benign
16	53672911	G	A	G53672911A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.988C>T:p.Gln330Ter	coding	Pathogenic
16	53686212	C	T	C53686212T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.776+221G>A	noncoding	Benign
16	53686437	G	A	G53686437A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.772C>T:p.Gln258Ter	coding	Pathogenic
16	53686533	C	A	C53686533A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.676G>T:p.Glu226Ter	coding	Pathogenic
16	53687896	A	C	A53687896C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.599T>G:p.Leu200Ter	coding	Pathogenic
16	53688165	G	A	G53688165A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.530-200C>T	noncoding	Benign
16	53692002	G	T	G53692002T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.529+64C>A	noncoding	Benign
16	53692099	C	A	C53692099A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.496G>T:p.Glu166Ter	coding	Pathogenic
16	53692174	G	A	G53692174A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.421C>T:p.Gln141Ter	coding	Pathogenic
16	53696211	A	T	A53696211T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.170T>A:p.Leu57Ter	coding	Pathogenic
16	53703648	G	A	G53703648A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.-8+155C>T	noncoding	Benign
16	53704202	T	C	T53704202C	FTO;RPGRIP1L	NM_001080432.3(FTO):c.18T>C:p.Thr6=	coding	Benign/Likely_benign
16	53775211	C	T	C53775211T	FTO	NM_001080432.3(FTO):c.46-34929C>T	noncoding	Benign
16	53779455	T	G	T53779455G	FTO	NM_001080432.3(FTO):c.46-30685T>G	noncoding	Benign
16	53821379	A	T	A53821379T	FTO	NM_001080432.3(FTO):c.124-4485A>T	noncoding	Benign
16	53827227	C	T	C53827227T	FTO	NM_001080432.3(FTO):c.751+736C>T	noncoding	Benign
16	53827680	G	A	G53827680A	FTO	NM_001080432.3(FTO):c.751+1189G>A	noncoding	Benign
16	54930964	A	G	A54930964G	IRX5	NM_005853.6(IRX5):c.-235A>G	noncoding	Benign
16	54931629	C	G	C54931629G	IRX5	NM_005853.6(IRX5):c.249+182C>G	noncoding	Benign
16	54932751	G	A	G54932751A	IRX5	NM_005853.6(IRX5):c.503G>A:p.Arg168His	coding	Pathogenic
16	54933184	C	A	C54933184A	IRX5	NM_005853.6(IRX5):c.763C>A:p.Pro255Thr	coding	Benign
16	54934045	A	C	A54934045C	IRX5	NM_005853.6(IRX5):c.*172A>C	noncoding	Benign
16	54934047	A	C	A54934047C	IRX5	NM_005853.6(IRX5):c.*174A>C	noncoding	Benign
16	55479032	G	T	G55479032T	MMP2	NM_004530.3(MMP2):c.-448G>T	noncoding	Benign
16	55479711	C	T	C55479711T	MMP2	NM_004530.6(MMP2):c.153+79C>T	noncoding	Benign
16	55481681	G	A	G55481681A	MMP2	NM_004530.6(MMP2):c.154-1228G>A	coding	Benign
16	55481709	T	C	T55481709C	MMP2	NM_004530.6(MMP2):c.154-1200T>C	coding	Benign
16	55481783	A	T	A55481783T	MMP2	NM_004530.6(MMP2):c.154-1126A>T	coding	Benign
16	55482561	G	A	G55482561A	MMP2	NM_004530.6(MMP2):c.154-348G>A	noncoding	Benign
16	55482796	T	A	T55482796A	MMP2	NM_004530.6(MMP2):c.154-113T>A	noncoding	Benign
16	55482855	G	A	G55482855A	MMP2	NM_004530.6(MMP2):c.154-54G>A	noncoding	Benign
16	55482898	A	G	A55482898G	MMP2	NM_004530.6(MMP2):c.154-11A>G	noncoding	Benign
16	55483056	C	T	C55483056T	MMP2	NM_004530.6(MMP2):c.301C>T:p.Arg101Cys	coding	Pathogenic
16	55483250	A	G	A55483250G	MMP2	NM_004530.6(MMP2):c.380+115A>G	noncoding	Benign
16	55483320	G	A	G55483320A	MMP2	NM_004530.6(MMP2):c.380+185G>A	noncoding	Benign
16	55484346	C	T	C55484346T	MMP2	NM_004530.6(MMP2):c.529+182C>T	noncoding	Benign
16	55484965	A	G	A55484965G	MMP2	NM_004530.6(MMP2):c.530-334A>G	noncoding	Benign
16	55485636	G	T	G55485636T	MMP2	NM_004530.6(MMP2):c.691G>T:p.Glu231Ter	coding	Pathogenic
16	55485734	C	A	C55485734A	MMP2	NM_004530.6(MMP2):c.789C>A:p.Tyr263Ter	coding	Pathogenic
16	55485920	T	G	T55485920G	MMP2	NM_004530.6(MMP2):c.832+143T>G	noncoding	Benign
16	55488288	G	C	G55488288C	MMP2	NM_004530.6(MMP2):c.833-255G>C	noncoding	Benign
16	55488322	G	A	G55488322A	MMP2	NM_004530.6(MMP2):c.833-221G>A	noncoding	Benign
16	55488575	C	T	C55488575T	MMP2	NM_004530.6(MMP2):c.865C>T:p.Gln289Ter	coding	Pathogenic
16	55489633	G	A	G55489633A	MMP2	NM_004530.6(MMP2):c.1007-18G>A	noncoding	Benign
16	55489639	C	G	C55489639G	MMP2	NM_004530.6(MMP2):c.1007-12C>G	noncoding	Benign
16	55489870	G	C	G55489870C	MMP2	NM_004530.6(MMP2):c.1180+46G>C	noncoding	Benign
16	55489977	A	G	A55489977G	MMP2	NM_004530.6(MMP2):c.1180+153A>G	noncoding	Benign
16	55490086	T	C	T55490086C	MMP2	NM_004530.6(MMP2):c.1180+262T>C	noncoding	Benign
16	55492001	G	C	G55492001C	MMP2	NM_004530.6(MMP2):c.1336+45G>C	noncoding	Benign
16	55492964	G	A	G55492964A	MMP2	NM_004530.6(MMP2):c.1337-194G>A	noncoding	Benign
16	55493114	A	T	A55493114T	MMP2	NM_004530.6(MMP2):c.1337-44A>T	noncoding	Benign
16	55493386	G	A	G55493386A	MMP2	NM_004530.6(MMP2):c.1472+93G>A	noncoding	Benign
16	55493510	T	C	T55493510C	MMP2	NM_004530.6(MMP2):c.1472+217T>C	noncoding	Benign
16	55496850	G	T	G55496850T	MMP2	NM_004530.6(MMP2):c.1473-76G>T	noncoding	Benign
16	55496860	T	G	T55496860G	MMP2	NM_004530.6(MMP2):c.1473-66T>G	noncoding	Benign
16	55497078	C	A	C55497078A	MMP2	NM_004530.6(MMP2):c.1609+16C>A	noncoding	Benign
16	55498458	G	A	G55498458A	MMP2	NM_004530.6(MMP2):c.1769+10G>A	noncoding	Benign/Likely_benign
16	55498546	T	C	T55498546C	MMP2	NM_004530.6(MMP2):c.1769+98T>C	noncoding	Benign
16	55502710	C	T	C55502710T	MMP2	NM_004530.6(MMP2):c.1770-69C>T	noncoding	Benign
16	55505279	C	G	C55505279G	MMP2	NM_004530.6(MMP2):c.1880-60C>G	noncoding	Benign
16	55660998	G	C	G55660998C	SLC6A2	NM_001172501.3(SLC6A2):c.274+4030G>C	noncoding	Benign
16	55661256	C	G	C55661256G	SLC6A2	NM_001172501.3(SLC6A2):c.274+4288C>G	noncoding	Benign
16	55697923	G	A	G55697923A	SLC6A2	NM_001172501.3(SLC6A2):c.1287G>A:p.Thr429=	coding	Benign
16	55698034	G	A	G55698034A	SLC6A2	NM_001172501.3(SLC6A2):c.1389+9G>A	noncoding	Benign
16	56191113	G	A	G56191113A	GNAO1	Single_allele	noncoding	Benign
16	56191124	G	A	G56191124A	GNAO1	Single_allele	noncoding	Benign
16	56191219	G	T	G56191219T	GNAO1	Single_allele	noncoding	Benign
16	56192352	C	G	C56192352G	GNAO1	NM_020988.3(GNAO1):c.117C>G:p.Leu39=	coding	Benign
16	56192564	G	A	G56192564A	GNAO1	NM_020988.3(GNAO1):c.119-10G>A	noncoding	Benign
16	56192579	G	A	G56192579A	GNAO1	NM_020988.3(GNAO1):c.124G>A:p.Gly42Arg	coding	Pathogenic
16	56192595	G	A	G56192595A	GNAO1	NM_020988.3(GNAO1):c.140G>A:p.Ser47Asn	coding	Pathogenic
16	56192633	T	C	T56192633C	GNAO1	NM_020988.3(GNAO1):c.161+17T>C	coding	Benign
16	56276055	G	A	G56276055A	GNAO1	NM_020988.3(GNAO1):c.286G>A:p.Gly96Ser	coding	Benign/Likely_benign
16	56328621	C	A	C56328621A	GNAO1	NM_020988.3(GNAO1):c.304-10C>A	noncoding	Benign
16	56328670	G	A	G56328670A	GNAO1	NM_020988.3(GNAO1):c.343G>A:p.Glu115Lys	coding	Benign
16	56328724	G	A	G56328724A	GNAO1	NM_020988.3(GNAO1):c.397G>A:p.Gly133Ser	coding	Benign/Likely_benign
16	56328726	C	T	C56328726T	GNAO1	NM_020988.3(GNAO1):c.399C>T:p.Gly133=	coding	Benign/Likely_benign
16	56328809	C	T	C56328809T	GNAO1	NM_020988.3(GNAO1):c.464+18C>T	noncoding	Benign
16	56328813	T	C	T56328813C	GNAO1	NM_020988.3(GNAO1):c.464+22T>C	noncoding	Benign
16	56328969	A	C	A56328969C	GNAO1	NM_020988.3(GNAO1):c.464+178A>C	noncoding	Benign
16	56334583	T	C	T56334583C	GNAO1	NM_020988.3(GNAO1):c.465-146T>C	noncoding	Benign
16	56334589	C	T	C56334589T	GNAO1	NM_020988.3(GNAO1):c.465-140C>T	noncoding	Benign
16	56334738	C	T	C56334738T	GNAO1	NM_020988.3(GNAO1):c.474C>T:p.Asp158=	coding	Benign/Likely_benign
16	56334760	G	A	G56334760A	GNAO1	NM_020988.3(GNAO1):c.496G>A:p.Ala166Thr	coding	Benign/Likely_benign
16	56334875	C	T	C56334875T	GNAO1	NM_020988.3(GNAO1):c.593+18C>T	noncoding	Benign
16	56334974	C	T	C56334974T	GNAO1	NM_020988.3(GNAO1):c.593+117C>T	noncoding	Benign
16	56336733	T	C	T56336733C	GNAO1	NM_020988.3(GNAO1):c.596T>C:p.Leu199Pro	coding	Pathogenic
16	56336739	A	T	A56336739T	GNAO1	NM_020988.3(GNAO1):c.602A>T:p.Asp201Val	coding	Pathogenic
16	56336745	G	A	G56336745A	GNAO1	NM_020988.3(GNAO1):c.608G>A:p.Gly203Glu	coding	Pathogenic
16	56336747	G	C	G56336747C	GNAO1	NM_020988.3(GNAO1):c.610G>C:p.Gly204Arg	coding	Pathogenic
16	56336754	G	T	G56336754T	GNAO1	NM_020988.3(GNAO1):c.617G>T:p.Arg206Leu	coding	Pathogenic
16	56336797	G	A	G56336797A	GNAO1	NM_020988.3(GNAO1):c.660G>A:p.Thr220=	coding	Benign/Likely_benign
16	56336862	T	A	T56336862A	GNAO1	NM_020988.3(GNAO1):c.723+2T>A	noncoding	Pathogenic
16	56341187	A	G	A56341187G	GNAO1	NM_020988.3(GNAO1):c.723+4327A>G	noncoding	Benign
16	56343684	C	T	C56343684T	GNAO1	NM_020988.3(GNAO1):c.723+6824C>T	noncoding	Benign
16	56343996	C	T	C56343996T	GNAO1	NM_020988.3(GNAO1):c.723+7136C>T	coding	Benign
16	56351473	G	T	G56351473T	GNAO1	NM_020988.3(GNAO1):c.813G>T:p.Lys271Asn	coding	Pathogenic
16	56351478	A	T	A56351478T	GNAO1	NM_020988.3(GNAO1):c.818A>T:p.Asp273Val	coding	Pathogenic
16	56351488	C	T	C56351488T	GNAO1	NM_020988.3(GNAO1):c.828C>T:p.Gly276=	coding	Benign/Likely_benign
16	56351531	T	A	T56351531A	GNAO1	NM_020988.3(GNAO1):c.871T>A:p.Tyr291Asn	coding	Pathogenic/Likely_pathogenic
16	56351660	A	T	A56351660T	GNAO1	NM_020988.3(GNAO1):c.877+123A>T	noncoding	Benign
16	56484820	G	A	G56484820A	BBS2	NM_031885.5(BBS2):c.2107C>T:p.Arg703Ter	coding	Pathogenic/Likely_pathogenic
16	56485185	A	G	A56485185G	BBS2	NM_031885.5(BBS2):c.2060-318T>C	noncoding	Benign
16	56485511	T	C	T56485511C	BBS2	NM_031885.5(BBS2):c.2059+79A>G	noncoding	Benign
16	56485589	C	A	C56485589A	BBS2	NM_031885.5(BBS2):c.2059+1G>T	noncoding	Pathogenic
16	56485675	A	C	A56485675C	BBS2	NM_031885.5(BBS2):c.1974T>G:p.Tyr658Ter	coding	Pathogenic
16	56485717	A	C	A56485717C	BBS2	NM_031885.5(BBS2):c.1932T>G:p.Tyr644Ter	coding	Pathogenic
16	56496838	G	A	G56496838A	BBS2	NM_031885.5(BBS2):c.1910+129C>T	noncoding	Benign
16	56497273	C	G	C56497273G	BBS2	NM_031885.5(BBS2):c.1798-194G>C	noncoding	Benign
16	56501147	A	G	A56501147G	BBS2	NM_031885.5(BBS2):c.1226-122T>C	noncoding	Benign
16	56501515	C	A	C56501515A	BBS2	NM_031885.5(BBS2):c.1081-18G>T	noncoding	Benign/Likely_benign
16	56501598	A	G	A56501598G	BBS2	NM_031885.5(BBS2):c.1081-101T>C	noncoding	Benign
16	56501701	A	C	A56501701C	BBS2	NM_031885.5(BBS2):c.1081-204T>G	noncoding	Benign
16	56502168	C	T	C56502168T	BBS2	NM_031885.5(BBS2):c.1080+149G>A	noncoding	Benign
16	56502303	G	A	G56502303A	BBS2	NM_031885.5(BBS2):c.1080+14C>T	noncoding	Benign
16	56502457	C	A	C56502457A	BBS2	NM_031885.5(BBS2):c.941-1G>T	coding	Pathogenic/Likely_pathogenic
16	56502582	G	A	G56502582A	BBS2	NM_031885.5(BBS2):c.940+91C>T	noncoding	Benign
16	56506070	C	T	C56506070T	BBS2	NM_031885.5(BBS2):c.718-34G>A	noncoding	Benign/Likely_benign
16	56506225	C	G	C56506225G	BBS2	NM_031885.5(BBS2):c.613-1G>C	coding	Pathogenic
16	56506278	G	C	G56506278C	BBS2	NM_031885.5(BBS2):c.613-54C>G	noncoding	Benign
16	56511158	C	G	C56511158G	BBS2	NM_031885.5(BBS2):c.471+1G>C	noncoding	Pathogenic
16	56511276	A	G	A56511276G	BBS2	NM_031885.5(BBS2):c.354T>C:p.Asp118=	coding	Benign/Likely_benign
16	56514472	G	T	G56514472T	BBS2	NM_031885.5(BBS2):c.326C>A:p.Ser109Ter	coding	Pathogenic
16	56514574	A	C	A56514574C	BBS2	NM_031885.5(BBS2):c.224T>G:p.Val75Gly	coding	Pathogenic/Likely_pathogenic
16	56514865	C	T	C56514865T	BBS2	NM_031885.5(BBS2):c.118-185G>A	noncoding	Benign
16	56520101	C	T	C56520101T	BBS2	NM_031885.3(BBS2):c.-239G>A	noncoding	Benign/Likely_benign
16	56520180	G	C	G56520180C	BBS2	Single_allele	noncoding	Benign
16	56520206	T	C	T56520206C	BBS2	Single_allele	noncoding	Benign
16	56747918	C	T	C56747918T	NUP93	NM_014669.5(NUP93):c.-14-316C>T	noncoding	Benign
16	56748435	T	G	T56748435G	NUP93	NM_014669.5(NUP93):c.179+9T>G	noncoding	Benign
16	56758448	C	G	C56758448G	NUP93	NM_014669.5(NUP93):c.180-90C>G	noncoding	Benign
16	56758527	T	A	T56758527A	NUP93	NM_014669.5(NUP93):c.180-11T>A	noncoding	Benign
16	56798390	C	T	C56798390T	NUP93	NM_014669.5(NUP93):c.298-86C>T	noncoding	Benign
16	56805527	C	T	C56805527T	NUP93	NM_014669.5(NUP93):c.384C>T:p.Tyr128=	coding	Benign
16	56818399	A	C	A56818399C	NUP93	NM_014669.5(NUP93):c.490-265A>C	noncoding	Benign
16	56818477	T	C	T56818477C	NUP93	NM_014669.5(NUP93):c.490-187T>C	noncoding	Benign
16	56818732	G	A	G56818732A	NUP93	NM_014669.5(NUP93):c.558G>A:p.Ala186=	coding	Benign/Likely_benign
16	56818910	G	T	G56818910T	NUP93	NM_014669.5(NUP93):c.564+172G>T	noncoding	Benign
16	56821280	C	T	C56821280T	NUP93	NM_014669.5(NUP93):c.565-224C>T	noncoding	Benign
16	56821584	C	G	C56821584G	NUP93	NM_014669.5(NUP93):c.645C>G:p.Leu215=	coding	Benign
16	56829115	G	A	G56829115A	NUP93	NM_014669.5(NUP93):c.927+6G>A	noncoding	Benign
16	56829160	C	T	C56829160T	NUP93	NM_014669.5(NUP93):c.927+51C>T	noncoding	Benign
16	56829303	C	T	C56829303T	NUP93	NM_014669.5(NUP93):c.927+194C>T	noncoding	Benign
16	56829317	T	C	T56829317C	NUP93	NM_014669.5(NUP93):c.927+208T>C	noncoding	Benign
16	56830486	C	T	C56830486T	NUP93	NM_014669.5(NUP93):c.928-42C>T	noncoding	Benign
16	56830599	C	T	C56830599T	NUP93	NM_014669.5(NUP93):c.999C>T:p.Ala333=	coding	Benign
16	56830706	C	T	C56830706T	NUP93	NM_014669.5(NUP93):c.1085+21C>T	noncoding	Benign
16	56832284	T	C	T56832284C	NUP93	NM_014669.5(NUP93):c.1252-11T>C	noncoding	Benign
16	56832590	T	C	T56832590C	NUP93	NM_014669.5(NUP93):c.1345+202T>C	noncoding	Benign
16	56833865	A	C	A56833865C	NUP93	NM_014669.5(NUP93):c.1538-263A>C	noncoding	Benign
16	56833892	C	T	C56833892T	NUP93	NM_014669.5(NUP93):c.1538-236C>T	noncoding	Benign
16	56834138	G	A	G56834138A	NUP93	NM_014669.5(NUP93):c.1548G>A:p.Glu516=	coding	Benign
16	56834397	C	T	C56834397T	NUP93	NM_014669.5(NUP93):c.1692C>T:p.Asn564=	coding	Benign
16	56834788	A	G	A56834788G	NUP93	NM_014669.5(NUP93):c.1782+10A>G	noncoding	Benign
16	56838810	C	T	C56838810T	NUP93	NM_014669.5(NUP93):c.2019-142C>T	noncoding	Benign
16	56838912	G	A	G56838912A	NUP93	NM_014669.5(NUP93):c.2019-40G>A	noncoding	Benign
16	56839583	C	T	C56839583T	NUP93	NM_014669.5(NUP93):c.2199C>T:p.Ala733=	coding	Benign
16	56839877	T	C	T56839877C	NUP93	NM_014669.5(NUP93):c.2220+273T>C	noncoding	Benign
16	56841383	G	A	G56841383A	NUP93	NM_014669.5(NUP93):c.2221-322G>A	noncoding	Benign
16	56844161	T	A	T56844161A	NUP93	NM_014669.5(NUP93):c.2350-338T>A	noncoding	Benign
16	56844466	C	T	C56844466T	NUP93	NM_014669.5(NUP93):c.2350-33C>T	noncoding	Benign
16	56844630	C	G	C56844630G	NUP93	NM_014669.5(NUP93):c.*21C>G	noncoding	Benign
16	56865094	C	T	C56865094T	SLC12A3	Single_allele	noncoding	Benign
16	56865095	G	C	G56865095C	SLC12A3	Single_allele	noncoding	Benign
16	56865236	A	G	A56865236G	SLC12A3	NM_001126108.2(SLC12A3):c.1A>G:p.Met1Val	coding	Pathogenic
16	56865323	G	T	G56865323T	SLC12A3	NM_001126108.2(SLC12A3):c.88G>T:p.Glu30Ter	coding	Pathogenic
16	56865436	T	A	T56865436A	SLC12A3	NM_001126108.2(SLC12A3):c.201T>A:p.Tyr67Ter	coding	Pathogenic
16	56865483	G	A	G56865483A	SLC12A3	NM_001126108.2(SLC12A3):c.248G>A:p.Arg83Gln	coding	Pathogenic/Likely_pathogenic
16	56865503	C	T	C56865503T	SLC12A3	NM_001126108.2(SLC12A3):c.268C>T:p.His90Tyr	coding	Pathogenic
16	56867019	C	T	C56867019T	SLC12A3	NM_001126108.2(SLC12A3):c.283-51C>T	noncoding	Benign
16	56867121	G	T	G56867121T	SLC12A3	NM_001126108.2(SLC12A3):c.334G>T:p.Glu112Ter	coding	Pathogenic
16	56867376	A	T	A56867376T	SLC12A3	NM_001126108.2(SLC12A3):c.429+160A>T	noncoding	Benign
16	56868377	G	A	G56868377A	SLC12A3	NM_001126108.2(SLC12A3):c.505+5G>A	noncoding	Pathogenic
16	56869440	G	A	G56869440A	SLC12A3	NM_001126108.2(SLC12A3):c.506-289G>A	noncoding	Benign
16	56869737	T	C	T56869737C	SLC12A3	NM_001126108.2(SLC12A3):c.514T>C:p.Trp172Arg	coding	Pathogenic/Likely_pathogenic
16	56869756	C	T	C56869756T	SLC12A3	NM_001126108.2(SLC12A3):c.533C>T:p.Ser178Leu	coding	Pathogenic/Likely_pathogenic
16	56869780	G	A	G56869780A	SLC12A3	NM_001126108.2(SLC12A3):c.557G>A:p.Gly186Asp	coding	Pathogenic/Likely_pathogenic
16	56869792	C	A	C56869792A	SLC12A3	NM_001126108.2(SLC12A3):c.569C>A:p.Ser190Ter	coding	Pathogenic
16	56870094	A	G	A56870094G	SLC12A3	NM_001126108.2(SLC12A3):c.602-2A>G	noncoding	Pathogenic
16	56870128	G	A	G56870128A	SLC12A3	NM_001126108.2(SLC12A3):c.634G>A:p.Gly212Ser	coding	Pathogenic
16	56872094	C	T	C56872094T	SLC12A3	NM_001126108.2(SLC12A3):c.853-257C>T	noncoding	Benign
16	56872408	A	C	A56872408C	SLC12A3	NM_001126108.2(SLC12A3):c.910A>C:p.Thr304Pro	coding	Pathogenic
16	56872409	C	T	C56872409T	SLC12A3	NM_001126108.2(SLC12A3):c.911C>T:p.Thr304Met	coding	Pathogenic
16	56872436	C	T	C56872436T	SLC12A3	NM_001126108.2(SLC12A3):c.938C>T:p.Ala313Val	coding	Pathogenic/Likely_pathogenic
16	56872445	G	C	G56872445C	SLC12A3	NM_001126108.2(SLC12A3):c.947G>C:p.Gly316Ala	coding	Pathogenic
16	56872445	G	T	G56872445T	SLC12A3	NM_001126108.2(SLC12A3):c.947G>T:p.Gly316Val	coding	Pathogenic/Likely_pathogenic
16	56872787	G	T	G56872787T	SLC12A3	NM_001126108.2(SLC12A3):c.1095+1G>T	coding	Pathogenic
16	56872790	A	G	A56872790G	SLC12A3	NM_001126108.2(SLC12A3):c.1095+4A>G	noncoding	Pathogenic
16	56878045	T	C	T56878045C	SLC12A3	NM_001126108.2(SLC12A3):c.1096-32T>C	noncoding	Benign
16	56878049	T	C	T56878049C	SLC12A3	NM_001126108.2(SLC12A3):c.1096-28T>C	noncoding	Benign
16	56878156	C	T	C56878156T	SLC12A3	NM_001126108.2(SLC12A3):c.1175C>T:p.Thr392Ile	coding	Pathogenic/Likely_pathogenic
16	56878991	C	T	C56878991T	SLC12A3	NM_001126108.2(SLC12A3):c.1181-82C>T	noncoding	Benign
16	56879088	G	T	G56879088T	SLC12A3	NM_001126108.2(SLC12A3):c.1196G>T:p.Arg399Leu	coding	Pathogenic/Likely_pathogenic
16	56879130	G	A	G56879130A	SLC12A3	NM_001126108.2(SLC12A3):c.1238G>A:p.Trp413Ter	coding	Pathogenic
16	56879154	G	A	G56879154A	SLC12A3	NM_001126108.2(SLC12A3):c.1262G>A:p.Cys421Tyr	coding	Pathogenic
16	56879180	T	G	T56879180G	SLC12A3	NM_001126108.2(SLC12A3):c.1288T>G:p.Cys430Gly	coding	Pathogenic
16	56879224	C	A	C56879224A	SLC12A3	NM_001126108.2(SLC12A3):c.1332C>A:p.Tyr444Ter	coding	Pathogenic
16	56879507	C	T	C56879507T	SLC12A3	NM_001126108.2(SLC12A3):c.1336-35C>T	noncoding	Benign
16	56879596	G	A	G56879596A	SLC12A3	NM_001126108.2(SLC12A3):c.1390G>A:p.Ala464Thr	coding	Pathogenic/Likely_pathogenic
16	56879963	G	A	G56879963A	SLC12A3	NM_001126108.2(SLC12A3):c.1444-167G>A	noncoding	Benign
16	56880113	G	A	G56880113A	SLC12A3	NM_001126108.2(SLC12A3):c.1444-17G>A	noncoding	Benign
16	56880443	C	T	C56880443T	SLC12A3	NM_001126108.2(SLC12A3):c.1567+190C>T	noncoding	Benign
16	56880646	A	G	A56880646G	SLC12A3	NM_001126108.2(SLC12A3):c.1567+393A>G	noncoding	Benign
16	56880816	C	T	C56880816T	SLC12A3	NM_001126108.2(SLC12A3):c.1567+563C>T	noncoding	Benign
16	56882395	G	A	G56882395A	SLC12A3	NM_001126108.2(SLC12A3):c.1568-1G>A	noncoding	Pathogenic
16	56882447	A	G	A56882447G	SLC12A3	NM_001126108.2(SLC12A3):c.1619A>G:p.Tyr540Cys	coding	Pathogenic
16	56882448	T	A	T56882448A	SLC12A3	NM_001126108.2(SLC12A3):c.1620T>A:p.Tyr540Ter	coding	Pathogenic
16	56882464	A	G	A56882464G	SLC12A3	NM_001126108.2(SLC12A3):c.1636A>G:p.Ser546Gly	coding	Pathogenic
16	56883938	G	T	G56883938T	SLC12A3	NM_001126108.2(SLC12A3):c.1670-111G>T	noncoding	Benign
16	56884053	G	A	G56884053A	SLC12A3	NM_001126108.2(SLC12A3):c.1674G>A:p.Trp558Ter	coding	Pathogenic
16	56884066	C	T	C56884066T	SLC12A3	NM_001126108.2(SLC12A3):c.1687C>T:p.Gln563Ter	coding	Pathogenic
16	56884121	T	A	T56884121A	SLC12A3	NM_001126108.2(SLC12A3):c.1742T>A:p.Met581Lys	coding	Pathogenic
16	56884142	C	T	C56884142T	SLC12A3	NM_001126108.2(SLC12A3):c.1763C>T:p.Ala588Val	coding	Pathogenic
16	56884247	G	A	G56884247A	SLC12A3	NM_001126108.2(SLC12A3):c.1825+43G>A	noncoding	Benign
16	56885161	G	A	G56885161A	SLC12A3	NM_001126108.2(SLC12A3):c.1826-104G>A	noncoding	Benign
16	56885365	G	A	G56885365A	SLC12A3	NM_001126108.2(SLC12A3):c.1925+1G>A	coding	Pathogenic/Likely_pathogenic
16	56885436	C	G	C56885436G	SLC12A3	NM_001126108.2(SLC12A3):c.1925+72C>G	noncoding	Benign/Likely_benign
16	56886192	G	A	G56886192A	SLC12A3	NM_001126108.2(SLC12A3):c.1926-172G>A	noncoding	Benign
16	56886234	G	A	G56886234A	SLC12A3	NM_001126108.2(SLC12A3):c.1926-130G>A	noncoding	Benign
16	56886316	C	T	C56886316T	SLC12A3	NM_001126108.2(SLC12A3):c.1926-48C>T	noncoding	Benign
16	56886366	C	T	C56886366T	SLC12A3	NM_001126108.2(SLC12A3):c.1928C>T:p.Pro643Leu	coding	Pathogenic/Likely_pathogenic
16	56886656	G	A	G56886656A	SLC12A3	NM_001126108.2(SLC12A3):c.2037+181G>A	noncoding	Benign
16	56887058	G	T	G56887058T	SLC12A3	NM_001126108.2(SLC12A3):c.2143G>T:p.Glu715Ter	coding	Pathogenic
16	56887128	C	T	C56887128T	SLC12A3	NM_001126108.2(SLC12A3):c.2178+35C>T	noncoding	Benign
16	56887129	G	A	G56887129A	SLC12A3	NM_001126108.2(SLC12A3):c.2178+36G>A	noncoding	Benign
16	56887932	G	T	G56887932T	SLC12A3	NM_001126108.2(SLC12A3):c.2186G>T:p.Gly729Val	coding	Pathogenic/Likely_pathogenic
16	56887959	T	G	T56887959G	SLC12A3	NM_001126108.2(SLC12A3):c.2213T>G:p.Leu738Arg	coding	Pathogenic/Likely_pathogenic
16	56887984	G	A	G56887984A	SLC12A3	NM_001126108.2(SLC12A3):c.2238G>A:p.Trp746Ter	coding	Pathogenic
16	56887985	C	T	C56887985T	SLC12A3	NM_001126108.2(SLC12A3):c.2239C>T:p.Gln747Ter	coding	Pathogenic
16	56890248	C	T	C56890248T	SLC12A3	NM_001126108.2(SLC12A3):c.2286-26C>T	noncoding	Benign
16	56891982	C	T	C56891982T	SLC12A3	NM_001126108.2(SLC12A3):c.2369-101C>T	noncoding	Benign
16	56892013	T	C	T56892013C	SLC12A3	NM_001126108.2(SLC12A3):c.2369-70T>C	noncoding	Benign
16	56892264	G	A	G56892264A	SLC12A3	NM_001126108.2(SLC12A3):c.2419+131G>A	noncoding	Benign
16	56892283	G	A	G56892283A	SLC12A3	NM_001126108.2(SLC12A3):c.2419+150G>A	noncoding	Benign
16	56892881	C	T	C56892881T	SLC12A3	NM_001126108.2(SLC12A3):c.2420-72C>T	noncoding	Benign
16	56892916	T	A	T56892916A	SLC12A3	NM_001126108.2(SLC12A3):c.2420-37T>A	noncoding	Benign
16	56892916	T	C	T56892916C	SLC12A3	NM_001126108.2(SLC12A3):c.2420-37T>C	noncoding	Benign
16	56892953	T	A	T56892953A	SLC12A3	NM_001126108.2(SLC12A3):c.2420T>A:p.Val807Glu	coding	Pathogenic
16	56893037	G	A	G56893037A	SLC12A3	NM_001126108.2(SLC12A3):c.2504G>A:p.Trp835Ter	coding	Pathogenic
16	56893307	C	T	C56893307T	SLC12A3	NM_001126108.2(SLC12A3):c.2521+253C>T	noncoding	Pathogenic
16	56893332	C	T	C56893332T	SLC12A3	NM_001126108.2(SLC12A3):c.2521+278C>T	noncoding	Benign
16	56893384	C	T	C56893384T	SLC12A3	NM_001126108.2(SLC12A3):c.2521+330C>T	noncoding	Benign
16	56893400	C	A	C56893400A	SLC12A3	NM_001126108.2(SLC12A3):c.2521+346C>A	noncoding	Benign
16	56893411	A	T	A56893411T	SLC12A3	NM_001126108.2(SLC12A3):c.2521+357A>T	noncoding	Benign
16	56893416	A	C	A56893416C	SLC12A3	NM_001126108.2(SLC12A3):c.2521+362A>C	noncoding	Benign
16	56893529	G	C	G56893529C	SLC12A3	NM_001126108.2(SLC12A3):c.2521+475G>C	noncoding	Benign
16	56894304	C	T	C56894304T	SLC12A3	NM_001126108.2(SLC12A3):c.2522-227C>T	noncoding	Benign
16	56894365	C	T	C56894365T	SLC12A3	NM_001126108.2(SLC12A3):c.2522-166C>T	noncoding	Benign
16	56894368	G	C	G56894368C	SLC12A3	NM_001126108.2(SLC12A3):c.2522-163G>C	noncoding	Benign
16	56894553	T	G	T56894553G	SLC12A3	NM_001126108.2(SLC12A3):c.2544T>G:p.Tyr848Ter	coding	Pathogenic
16	56894564	G	A	G56894564A	SLC12A3	NM_001126108.2(SLC12A3):c.2555G>A:p.Arg852His	coding	Pathogenic
16	56894763	C	A	C56894763A	SLC12A3	NM_001126108.2(SLC12A3):c.2633+121C>A	noncoding	Benign
16	56894793	A	C	A56894793C	SLC12A3	NM_001126108.2(SLC12A3):c.2633+151A>C	noncoding	Benign
16	56894851	C	T	C56894851T	SLC12A3	NM_001126108.2(SLC12A3):c.2633+209C>T	noncoding	Benign
16	56899497	G	A	G56899497A	SLC12A3	NM_001126108.2(SLC12A3):c.2634-33G>A	noncoding	Benign
16	56899556	G	A	G56899556A	SLC12A3	NM_001126108.2(SLC12A3):c.2660G>A:p.Arg887Gln	coding	Pathogenic/Likely_pathogenic
16	56899559	T	C	T56899559C	SLC12A3	NM_001126108.2(SLC12A3):c.2663T>C:p.Leu888Pro	coding	Pathogenic
16	56899823	C	T	C56899823T	SLC12A3	NM_001126108.2(SLC12A3):c.2720+207C>T	noncoding	Benign
16	56902371	A	T	A56902371T	SLC12A3	NM_001126108.2(SLC12A3):c.2721-2A>T	noncoding	Pathogenic
16	56902446	G	T	G56902446T	SLC12A3	NM_001126108.2(SLC12A3):c.2794G>T:p.Glu932Ter	coding	Pathogenic
16	56902469	G	A	G56902469A	SLC12A3	NM_001126108.2(SLC12A3):c.2817G>A:p.Trp939Ter	coding	Pathogenic
16	56902546	A	G	A56902546G	SLC12A3	NM_001126108.2(SLC12A3):c.2856+38A>G	noncoding	Benign
16	56902651	A	G	A56902651G	SLC12A3	NM_001126108.2(SLC12A3):c.2856+143A>G	noncoding	Benign
16	56902656	T	C	T56902656C	SLC12A3	NM_001126108.2(SLC12A3):c.2856+148T>C	noncoding	Benign
16	56902746	A	G	A56902746G	SLC12A3	NM_001126108.2(SLC12A3):c.2856+238A>G	noncoding	Benign
16	56904086	T	C	T56904086C	SLC12A3	NM_001126108.2(SLC12A3):c.2857-309T>C	noncoding	Benign
16	56904104	A	G	A56904104G	SLC12A3	NM_001126108.2(SLC12A3):c.2857-291A>G	noncoding	Benign
16	56904217	T	A	T56904217A	SLC12A3	NM_001126108.2(SLC12A3):c.2857-178T>A	noncoding	Benign
16	56904235	T	G	T56904235G	SLC12A3	NM_001126108.2(SLC12A3):c.2857-160T>G	noncoding	Benign
16	56904332	G	A	G56904332A	SLC12A3	NM_001126108.2(SLC12A3):c.2857-63G>A	coding	Benign
16	56904377	C	T	C56904377T	SLC12A3	NM_001126108.2(SLC12A3):c.2857-18C>T	noncoding	Benign
16	56904401	C	T	C56904401T	SLC12A3	NM_001126108.2(SLC12A3):c.2863C>T:p.Arg955Trp	coding	Pathogenic/Likely_pathogenic
16	56904404	C	T	C56904404T	SLC12A3	NM_001126108.2(SLC12A3):c.2866C>T:p.Gln956Ter	coding	Pathogenic
16	56904438	C	T	C56904438T	SLC12A3	NM_001126108.2(SLC12A3):c.2900C>T:p.Ser967Phe	coding	Pathogenic
16	56904440	C	T	C56904440T	SLC12A3	NM_001126108.2(SLC12A3):c.2902C>T:p.Arg968Ter	coding	Pathogenic
16	56904463	G	A	G56904463A	SLC12A3	NM_001126108.2(SLC12A3):c.2924+1G>A	coding	Pathogenic
16	56904610	C	T	C56904610T	SLC12A3	NM_001126108.2(SLC12A3):c.2924+148C>T	noncoding	Benign
16	56912994	G	C	G56912994C	SLC12A3	NM_001126108.2(SLC12A3):c.2925-270G>C	noncoding	Benign
16	56913389	C	T	C56913389T	SLC12A3	NM_001126108.2(SLC12A3):c.3050C>T:p.Thr1017Ile	coding	Pathogenic
16	56962192	C	A	C56962192A	CETP	NM_000078.3(CETP):c.118+95C>A	noncoding	Benign
16	56962246	T	C	T56962246C	CETP	NM_000078.3(CETP):c.118+149T>C	noncoding	Benign
16	56962299	G	A	G56962299A	CETP	NM_000078.3(CETP):c.118+202G>A	noncoding	Benign
16	56962376	G	A	G56962376A	CETP	NM_000078.3(CETP):c.118+279G>A	noncoding	Benign
16	56962737	C	A	C56962737A	CETP	NM_000078.3(CETP):c.119-273C>A	noncoding	Benign
16	56963160	A	G	A56963160G	CETP	NM_000078.3(CETP):c.233+36A>G	noncoding	Benign
16	56963321	G	A	G56963321A	CETP	NM_000078.3(CETP):c.233+197G>A	noncoding	Benign
16	56969131	C	T	C56969131T	CETP	NM_000078.3(CETP):c.234-255C>T	noncoding	Benign
16	56969234	T	C	T56969234C	CETP	NM_000078.3(CETP):c.234-152T>C	noncoding	Benign
16	56969420	C	T	C56969420T	CETP	NM_000078.3(CETP):c.268C>T:p.Gln90Ter	coding	Pathogenic
16	56969811	G	T	G56969811T	CETP	NM_000078.3(CETP):c.440-103G>T	noncoding	Benign
16	56970065	T	C	T56970065C	CETP	NM_000078.3(CETP):c.527+64T>C	noncoding	Benign
16	56970068	T	C	T56970068C	CETP	NM_000078.3(CETP):c.527+67T>C	noncoding	Benign
16	56970835	A	G	A56970835G	CETP	NM_000078.3(CETP):c.528-198A>G	noncoding	Benign
16	56970977	G	A	G56970977A	CETP	NM_000078.3(CETP):c.528-56G>A	noncoding	Benign
16	56971359	C	T	C56971359T	CETP	NM_000078.3(CETP):c.636C>T:p.Ala212=	coding	Benign
16	56971567	C	A	C56971567A	CETP	NM_000078.3(CETP):c.658+186C>A	noncoding	Benign
16	56971638	C	T	C56971638T	CETP	NM_000078.3(CETP):c.658+257C>T	noncoding	Benign
16	56971852	C	G	C56971852G	CETP	NM_000078.3(CETP):c.659-140C>G	noncoding	Benign
16	56971970	C	T	C56971970T	CETP	NM_000078.3(CETP):c.659-22C>T	noncoding	Benign
16	56973280	T	C	T56973280C	CETP	NM_000078.3(CETP):c.751-51T>C	noncoding	Benign
16	56973534	T	G	T56973534G	CETP	NM_000078.3(CETP):c.930+24T>G	noncoding	Benign
16	56973539	G	A	G56973539A	CETP	NM_000078.3(CETP):c.930+29G>A	noncoding	Benign
16	56975283	T	G	T56975283G	CETP	NM_000078.3(CETP):c.981+132T>G	noncoding	Benign
16	56975288	C	T	C56975288T	CETP	NM_000078.3(CETP):c.981+137C>T	noncoding	Benign
16	56978024	C	T	C56978024T	CETP	NM_000078.3(CETP):c.982-67C>T	noncoding	Benign
16	56978252	A	G	A56978252G	CETP	NM_000078.3(CETP):c.1143A>G:p.Glu381=	coding	Benign
16	56978467	T	G	T56978467G	CETP	NM_000078.3(CETP):c.1146+212T>G	noncoding	Benign
16	56980963	A	G	A56980963G	CETP	NM_000078.3(CETP):c.1147-195A>G	noncoding	Benign
16	56981333	T	C	T56981333C	CETP	NM_000078.3(CETP):c.1214+108T>C	noncoding	Benign
16	56981468	A	G	A56981468G	CETP	NM_000078.3(CETP):c.1215-179A>G	noncoding	Benign
16	56981535	C	G	C56981535G	CETP	NM_000078.3(CETP):c.1215-112C>G	noncoding	Benign
16	56981551	G	A	G56981551A	CETP	NM_000078.3(CETP):c.1215-96G>A	noncoding	Benign
16	56981813	T	C	T56981813C	CETP	NM_000078.3(CETP):c.1248+133T>C	noncoding	Benign
16	56982390	T	C	T56982390C	CETP	NM_000078.3(CETP):c.1321+153T>C	noncoding	Benign
16	56983090	T	G	T56983090G	CETP	NM_000078.3(CETP):c.1322-236T>G	noncoding	Benign
16	56983562	G	A	G56983562A	CETP	NM_000078.3(CETP):c.1408-30G>A	noncoding	Benign
16	56983884	G	A	G56983884A	CETP	Single_allele	noncoding	Benign
16	57205068	G	A	G57205068A	RSPRY1	NM_133368.3(RSPRY1):c.350+60G>A	coding	Benign
16	57208065	G	T	G57208065T	RSPRY1	NM_133368.3(RSPRY1):c.358G>T:p.Glu120Ter	coding	Pathogenic
16	57209057	T	A	T57209057A	RSPRY1	NM_133368.3(RSPRY1):c.404-18T>A	noncoding	Benign
16	57213664	G	C	G57213664C	RSPRY1	NM_133368.3(RSPRY1):c.644-224G>C	noncoding	Benign
16	57213742	A	G	A57213742G	RSPRY1	NM_133368.3(RSPRY1):c.644-146A>G	noncoding	Benign
16	57216735	C	G	C57216735G	RSPRY1	NM_133368.3(RSPRY1):c.770-169C>G	noncoding	Benign
16	57220866	G	A	G57220866A	RSPRY1	NM_133368.3(RSPRY1):c.1017+19G>A	noncoding	Benign
16	57221328	C	T	C57221328T	RSPRY1	NM_133368.3(RSPRY1):c.1074C>T:p.Ala358=	coding	Benign
16	57221451	T	C	T57221451C	RSPRY1	NM_133368.3(RSPRY1):c.1161+36T>C	noncoding	Benign
16	57227234	A	C	A57227234C	RSPRY1	NM_133368.3(RSPRY1):c.1162-108A>C	noncoding	Benign
16	57230829	C	T	C57230829T	RSPRY1	NM_133368.3(RSPRY1):c.1376+16C>T	noncoding	Benign
16	57231212	T	A	T57231212A	RSPRY1	NM_133368.3(RSPRY1):c.1422T>A:p.Cys474Ter	coding	Pathogenic
16	57238896	G	A	G57238896A	RSPRY1	NM_133368.3(RSPRY1):c.1652G>A:p.Cys551Tyr	coding	Pathogenic
16	57249818	G	A	G57249818A	ARL2BP	NM_012106.4(ARL2BP):c.259G>A:p.Glu87Lys	coding	Benign/Likely_benign
16	57376022	T	G	T57376022G	CX3CL1	NM_002996.6(CX3CL1):c.70+3384T>G	noncoding	Benign
16	57447326	C	A	C57447326A	COQ9	NM_020313.4(CIAPIN1):c.-56+16G>T	noncoding	Benign
16	57447393	T	C	T57447393C	COQ9	Single_allele	noncoding	Benign
16	57447578	G	A	G57447578A	COQ9	NM_020312.4(COQ9):c.73G>A:p.Val25Met	coding	Pathogenic
16	57451005	G	A	G57451005A	COQ9	NM_020312.4(COQ9):c.74-35G>A	noncoding	Benign
16	57451162	C	T	C57451162T	COQ9	NM_020312.4(COQ9):c.196C>T:p.Gln66Ter	coding	Pathogenic
16	57452671	T	C	T57452671C	COQ9	NM_020312.4(COQ9):c.243-130T>C	noncoding	Benign
16	57452701	C	T	C57452701T	COQ9	NM_020312.4(COQ9):c.243-100C>T	noncoding	Benign
16	57453079	A	G	A57453079G	COQ9	NM_020312.4(COQ9):c.378+143A>G	noncoding	Benign
16	57456647	G	A	G57456647A	COQ9	NM_020312.4(COQ9):c.521+1G>A	coding	Pathogenic
16	57456809	G	A	G57456809A	COQ9	NM_020312.4(COQ9):c.522-122G>A	noncoding	Benign
16	57457001	G	T	G57457001T	COQ9	NM_020312.4(COQ9):c.592G>T:p.Glu198Ter	coding	Pathogenic
16	57628855	A	T	A57628855T	ADGRG1	NM_201525.4(ADGRG1):c.-36+53A>T	noncoding	Benign
16	57628879	T	A	T57628879A	ADGRG1	NM_201525.4(ADGRG1):c.-36+77T>A	noncoding	Benign
16	57628949	T	C	T57628949C	ADGRG1	NM_201525.4(ADGRG1):c.-36+147T>C	noncoding	Benign
16	57639548	A	G	A57639548G	ADGRG1	NM_201525.4(ADGRG1):c.-35-10705A>G	noncoding	Benign
16	57639830	G	C	G57639830C	ADGRG1	NM_201525.4(ADGRG1):c.-35-10423G>C	noncoding	Benign
16	57639850	G	A	G57639850A	ADGRG1	NM_201525.4(ADGRG1):c.-35-10403G>A	noncoding	Benign
16	57641526	C	T	C57641526T	ADGRG1	NM_201525.4(ADGRG1):c.-35-8727C>T	noncoding	Benign
16	57653103	G	A	G57653103A	ADGRG1	NM_201525.4(ADGRG1):c.488-100G>A	noncoding	Benign
16	57653246	C	A	C57653246A	ADGRG1	NM_201525.4(ADGRG1):c.531C>A:p.Cys177Ter	coding	Pathogenic
16	57653277	C	T	C57653277T	ADGRG1	NM_201525.4(ADGRG1):c.562C>T:p.Gln188Ter	coding	Pathogenic
16	57653295	C	T	C57653295T	ADGRG1	NM_201525.4(ADGRG1):c.580C>T:p.Gln194Ter	coding	Pathogenic
16	57653402	T	C	T57653402C	ADGRG1	NM_201525.4(ADGRG1):c.620+67T>C	noncoding	Benign
16	57653402	T	G	T57653402G	ADGRG1	NM_201525.4(ADGRG1):c.620+67T>G	noncoding	Benign
16	57653802	A	C	A57653802C	ADGRG1	NM_201525.4(ADGRG1):c.621-184A>C	noncoding	Benign
16	57654006	C	T	C57654006T	ADGRG1	NM_201525.4(ADGRG1):c.641C>T:p.Ser214Leu	coding	Benign/Likely_benign
16	57654104	C	T	C57654104T	ADGRG1	NM_201525.4(ADGRG1):c.739C>T:p.Gln247Ter	coding	Pathogenic
16	57654412	C	A	C57654412A	ADGRG1	NM_201525.4(ADGRG1):c.768+279C>A	noncoding	Benign
16	57655981	C	T	C57655981T	ADGRG1	NM_201525.4(ADGRG1):c.1006C>T:p.Gln336Ter	coding	Pathogenic
16	57656407	A	G	A57656407G	ADGRG1	NM_201525.4(ADGRG1):c.1064-107A>G	noncoding	Benign
16	57656694	C	A	C57656694A	ADGRG1	NM_201525.4(ADGRG1):c.1167+77C>A	noncoding	Benign
16	57656799	C	T	C57656799T	ADGRG1	NM_201525.4(ADGRG1):c.1167+182C>T	noncoding	Benign
16	57657604	G	C	G57657604C	ADGRG1	NM_201525.4(ADGRG1):c.1286+113G>C	noncoding	Benign
16	57659162	T	G	T57659162G	ADGRG1	NM_201525.4(ADGRG1):c.1287-251T>G	noncoding	Benign
16	57659612	C	T	C57659612T	ADGRG1	NM_201525.4(ADGRG1):c.1486C>T:p.Arg496Ter	coding	Pathogenic
16	57659679	G	A	G57659679A	ADGRG1	NM_201525.4(ADGRG1):c.1553G>A:p.Trp518Ter	coding	Pathogenic
16	57660673	A	G	A57660673G	ADGRG1	NM_201525.4(ADGRG1):c.1556-95A>G	noncoding	Benign
16	57661169	C	T	C57661169T	ADGRG1	NM_201525.4(ADGRG1):c.1664+293C>T	noncoding	Benign
16	57661598	G	A	G57661598A	ADGRG1	NM_201525.4(ADGRG1):c.1665-99G>A	noncoding	Benign
16	57661920	C	T	C57661920T	ADGRG1	NM_201525.4(ADGRG1):c.1888C>T:p.Gln630Ter	coding	Pathogenic
16	57661980	C	T	C57661980T	ADGRG1	NM_201525.4(ADGRG1):c.1933+15C>T	noncoding	Benign
16	57662233	C	A	C57662233A	ADGRG1	NM_201525.4(ADGRG1):c.1933+268C>A	noncoding	Benign
16	57662252	A	G	A57662252G	ADGRG1	NM_201525.4(ADGRG1):c.1933+287A>G	noncoding	Benign
16	57663433	G	A	G57663433A	ADGRG1	NM_201525.4(ADGRG1):c.1934-19G>A	noncoding	Benign/Likely_benign
16	57736820	C	T	C57736820T	KATNB1	NM_005886.3(KATNB1):c.-266-158C>T	noncoding	Benign
16	57737214	G	T	G57737214T	KATNB1	NM_005886.3(KATNB1):c.-30G>T	noncoding	Benign
16	57737425	A	G	A57737425G	KATNB1	NM_005886.3(KATNB1):c.40+142A>G	noncoding	Benign
16	57741390	G	A	G57741390A	KATNB1	NM_005886.3(KATNB1):c.41-297G>A	noncoding	Benign
16	57741418	A	G	A57741418G	KATNB1	NM_005886.3(KATNB1):c.41-269A>G	noncoding	Benign
16	57741460	A	G	A57741460G	KATNB1	NM_005886.3(KATNB1):c.41-227A>G	noncoding	Benign
16	57741625	C	T	C57741625T	KATNB1	NM_005886.3(KATNB1):c.41-62C>T	noncoding	Benign
16	57741700	G	A	G57741700A	KATNB1	NM_005886.3(KATNB1):c.54G>A:p.Ala18=	coding	Benign
16	57741920	G	A	G57741920A	KATNB1	NM_005886.3(KATNB1):c.171+103G>A	noncoding	Benign
16	57741947	C	G	C57741947G	KATNB1	NM_005886.3(KATNB1):c.171+130C>G	noncoding	Benign
16	57742067	G	C	G57742067C	KATNB1	NM_005886.3(KATNB1):c.171+250G>C	noncoding	Benign
16	57744402	G	A	G57744402A	KATNB1	NM_005886.3(KATNB1):c.180G>A:p.Thr60=	coding	Benign
16	57744576	A	G	A57744576G	KATNB1	NM_005886.3(KATNB1):c.289+65A>G	noncoding	Benign
16	57744638	C	G	C57744638G	KATNB1	NM_005886.3(KATNB1):c.289+127C>G	noncoding	Benign
16	57744772	G	T	G57744772T	KATNB1	NM_005886.3(KATNB1):c.289+261G>T	noncoding	Benign
16	57750885	C	T	C57750885T	KATNB1	NM_005886.3(KATNB1):c.348C>T:p.Tyr116=	coding	Benign
16	57751191	T	C	T57751191C	KATNB1	NM_005886.3(KATNB1):c.391-70T>C	noncoding	Benign
16	57751226	C	T	C57751226T	KATNB1	NM_005886.3(KATNB1):c.391-35C>T	noncoding	Benign
16	57751256	C	G	C57751256G	KATNB1	NM_005886.3(KATNB1):c.391-5C>G	noncoding	Benign/Likely_benign
16	57751584	G	A	G57751584A	KATNB1	NM_005886.3(KATNB1):c.433-57G>A	noncoding	Benign
16	57751901	T	C	T57751901C	KATNB1	NM_005886.3(KATNB1):c.517-39T>C	noncoding	Benign
16	57752338	G	A	G57752338A	KATNB1	NM_005886.3(KATNB1):c.633-192G>A	noncoding	Benign
16	57752454	A	G	A57752454G	KATNB1	NM_005886.3(KATNB1):c.633-76A>G	noncoding	Benign
16	57752503	C	T	C57752503T	KATNB1	NM_005886.3(KATNB1):c.633-27C>T	noncoding	Benign
16	57752605	C	T	C57752605T	KATNB1	NM_005886.3(KATNB1):c.704+4C>T	noncoding	Benign
16	57752799	C	T	C57752799T	KATNB1	NM_005886.3(KATNB1):c.726C>T:p.Asp242=	coding	Benign
16	57753115	C	T	C57753115T	KATNB1	NM_005886.3(KATNB1):c.894C>T:p.Tyr298=	coding	Benign
16	57753536	G	A	G57753536A	KATNB1	NM_005886.3(KATNB1):c.1177+17G>A	noncoding	Benign
16	57753780	G	T	G57753780T	KATNB1	NM_005886.3(KATNB1):c.1178-165G>T	noncoding	Benign
16	57753994	C	T	C57753994T	KATNB1	NM_005886.3(KATNB1):c.1227C>T:p.Asp409=	coding	Benign
16	57754060	T	C	T57754060C	KATNB1	NM_005886.3(KATNB1):c.1228+65T>C	noncoding	Benign
16	57754239	T	G	T57754239G	KATNB1	NM_005886.3(KATNB1):c.1228+244T>G	noncoding	Benign
16	57755141	C	G	C57755141G	KATNB1	NM_005886.3(KATNB1):c.1319C>G:p.Pro440Arg	coding	Benign
16	57755376	T	C	T57755376C	KATNB1	NM_005886.3(KATNB1):c.1448T>C:p.Val483Ala	coding	Benign
16	57755560	C	G	C57755560G	KATNB1	NM_005886.3(KATNB1):c.1566+66C>G	noncoding	Benign
16	57755648	A	G	A57755648G	KATNB1	NM_005886.3(KATNB1):c.1566+154A>G	noncoding	Benign
16	57755934	G	C	G57755934C	KATNB1	NM_005886.3(KATNB1):c.1643+17G>C	noncoding	Benign/Likely_benign
16	57756249	G	T	G57756249T	KATNB1	NM_005886.3(KATNB1):c.1719-107G>T	noncoding	Benign
16	57757008	T	C	T57757008C	KATNB1	NM_005886.3(KATNB1):c.*62T>C	noncoding	Benign
16	57884393	G	A	G57884393A	CNGB1	NM_001297.5(CNGB1):c.3527C>T:p.Pro1176Leu	coding	Benign/Likely_benign
16	57887939	G	A	G57887939A	CNGB1	NM_001297.5(CNGB1):c.3378C>T:p.Gly1126=	coding	Benign/Likely_benign
16	57901344	C	G	C57901344G	CNGB1	NM_001297.5(CNGB1):c.2976+8G>C	noncoding	Benign
16	57901538	G	A	G57901538A	CNGB1	NM_001297.5(CNGB1):c.2882C>T:p.Ala961Val	coding	Benign/Likely_benign
16	57903841	C	T	C57903841T	CNGB1	NM_001297.5(CNGB1):c.2775G>A:p.Trp925Ter	coding	Pathogenic
16	57904842	G	A	G57904842A	CNGB1	NM_001297.5(CNGB1):c.2526C>T:p.Thr842=	coding	Benign
16	57904851	A	G	A57904851G	CNGB1	NM_001297.5(CNGB1):c.2517T>C:p.Ala839=	coding	Benign/Likely_benign
16	57904854	A	G	A57904854G	CNGB1	NM_001297.5(CNGB1):c.2514T>C:p.Phe838=	coding	Benign/Likely_benign
16	57911734	G	C	G57911734C	CNGB1	NM_001297.5(CNGB1):c.2492+19C>G	noncoding	Benign
16	57911751	A	C	A57911751C	CNGB1	NM_001297.5(CNGB1):c.2492+2T>G	noncoding	Pathogenic
16	57911752	C	T	C57911752T	CNGB1	NM_001297.5(CNGB1):c.2492+1G>A	noncoding	Pathogenic
16	57911764	G	A	G57911764A	CNGB1	NM_001297.5(CNGB1):c.2481C>T:p.Gly827=	coding	Benign/Likely_benign
16	57916120	G	A	G57916120A	CNGB1	NM_001297.5(CNGB1):c.2217+9C>T	noncoding	Benign
16	57917405	G	A	G57917405A	CNGB1	NM_001297.5(CNGB1):c.2029C>T:p.Arg677Cys	coding	Pathogenic
16	57917434	C	T	C57917434T	CNGB1	NM_001297.5(CNGB1):c.2000G>A:p.Trp667Ter	coding	Pathogenic
16	57920364	A	G	A57920364G	CNGB1	NM_001297.5(CNGB1):c.1801+23T>C	noncoding	Benign
16	57920441	T	A	T57920441A	CNGB1	NM_001297.5(CNGB1):c.1747A>T:p.Lys583Ter	coding	Pathogenic
16	57920546	T	C	T57920546C	CNGB1	NM_001297.5(CNGB1):c.1644-2A>G	noncoding	Pathogenic
16	57923234	G	C	G57923234C	CNGB1	NM_001297.5(CNGB1):c.1643+39C>G	noncoding	Benign
16	57931849	G	A	G57931849A	CNGB1	NM_001297.5(CNGB1):c.1402C>T:p.Gln468Ter	coding	Pathogenic
16	57939585	C	T	C57939585T	CNGB1	NM_001297.5(CNGB1):c.1217G>A:p.Trp406Ter	coding	Pathogenic
16	57950482	C	T	C57950482T	CNGB1	NM_001297.5(CNGB1):c.933G>A:p.Pro311=	coding	Benign
16	57950579	G	A	G57950579A	CNGB1	NM_001297.5(CNGB1):c.875-39C>T	noncoding	Benign
16	57957413	C	T	C57957413T	CNGB1	NM_001297.5(CNGB1):c.838-36G>A	noncoding	Benign
16	57960820	C	T	C57960820T	CNGB1	NM_001297.5(CNGB1):c.534+20G>A	noncoding	Benign
16	57960875	C	A	C57960875A	CNGB1	NM_001297.5(CNGB1):c.499G>T:p.Glu167Ter	coding	Pathogenic
16	57960891	C	T	C57960891T	CNGB1	NM_001297.5(CNGB1):c.483G>A:p.Trp161Ter	coding	Pathogenic
16	57962558	G	A	G57962558A	CNGB1	NM_001297.5(CNGB1):c.458+7C>T	noncoding	Benign
16	57963009	G	A	G57963009A	CNGB1	NM_001297.5(CNGB1):c.346C>T:p.Gln116Ter	coding	Pathogenic
16	57964220	A	G	A57964220G	CNGB1	NM_001297.5(CNGB1):c.218-18T>C	noncoding	Benign
16	57964441	C	T	C57964441T	CNGB1	NM_001297.5(CNGB1):c.217+46G>A	noncoding	Benign
16	57964482	C	G	C57964482G	CNGB1	NM_001297.5(CNGB1):c.217+5G>C	noncoding	Pathogenic
16	57964535	C	A	C57964535A	CNGB1	NM_001297.5(CNGB1):c.169G>T:p.Glu57Ter	coding	Pathogenic
16	57967175	C	A	C57967175A	CNGB1	NM_001297.5(CNGB1):c.112G>T:p.Glu38Ter	coding	Pathogenic
16	57967182	C	T	C57967182T	CNGB1	NM_001297.5(CNGB1):c.105G>A:p.Ala35=	coding	Benign/Likely_benign
16	57967197	C	T	C57967197T	CNGB1	NM_001297.5(CNGB1):c.90G>A:p.Glu30=	coding	Benign
16	57967271	G	A	G57967271A	CNGB1	NM_001297.5(CNGB1):c.16C>T:p.Gln6Ter	coding	Pathogenic
16	58001748	A	C	A58001748C	USB1	NM_024598.4(USB1):c.98+167A>C	noncoding	Benign
16	58001748	A	T	A58001748T	USB1	NM_024598.4(USB1):c.98+167A>T	noncoding	Benign
16	58001801	C	G	C58001801G	USB1	NM_024598.4(USB1):c.98+220C>G	noncoding	Benign
16	58002443	G	A	G58002443A	USB1	NM_024598.4(USB1):c.99-36G>A	noncoding	Benign
16	58002445	T	A	T58002445A	USB1	NM_024598.4(USB1):c.99-34T>A	noncoding	Benign
16	58002447	A	T	A58002447T	USB1	NM_024598.4(USB1):c.99-32A>T	noncoding	Benign
16	58010690	C	T	C58010690T	USB1	NM_024598.4(USB1):c.449+578C>T	noncoding	Benign
16	58010762	T	C	T58010762C	USB1	NM_024598.4(USB1):c.449+650T>C	noncoding	Benign
16	58010804	T	C	T58010804C	USB1	NM_024598.4(USB1):c.449+692T>C	noncoding	Benign
16	58014238	C	T	C58014238T	USB1	NM_024598.4(USB1):c.450-35C>T	noncoding	Benign
16	58017008	G	A	G58017008A	USB1	NM_024598.4(USB1):c.504-326G>A	noncoding	Benign
16	58017274	C	T	C58017274T	USB1	NM_024598.4(USB1):c.504-60C>T	noncoding	Benign
16	58019070	C	T	C58019070T	USB1	NM_024598.4(USB1):c.693+15C>T	noncoding	Benign
16	58019257	C	T	C58019257T	USB1	NM_024598.4(USB1):c.693+202C>T	noncoding	Benign
16	58019826	G	T	G58019826T	USB1	NM_024598.4(USB1):c.694-315G>T	noncoding	Benign
16	58020027	G	A	G58020027A	USB1	NM_024598.4(USB1):c.694-114G>A	noncoding	Benign
16	58164235	G	C	G58164235C	CSNK2A2	NM_001896.4(CSNK2A2):c.977-88C>G	noncoding	Benign
16	58165299	G	T	G58165299T	CSNK2A2	NM_001896.4(CSNK2A2):c.976+261C>A	noncoding	Benign
16	58165766	C	T	C58165766T	CSNK2A2	NM_001896.4(CSNK2A2):c.828-58G>A	noncoding	Benign
16	58165848	G	T	G58165848T	CSNK2A2	NM_001896.4(CSNK2A2):c.828-140C>A	noncoding	Benign
16	58165950	C	T	C58165950T	CSNK2A2	NM_001896.4(CSNK2A2):c.828-242G>A	noncoding	Benign
16	58166713	A	C	A58166713C	CSNK2A2	NM_001896.4(CSNK2A2):c.727-29T>G	noncoding	Benign
16	58167069	C	T	C58167069T	CSNK2A2	NM_001896.4(CSNK2A2):c.726+138G>A	noncoding	Benign
16	58167724	T	C	T58167724C	CSNK2A2	NM_001896.4(CSNK2A2):c.585A>G:p.Ser195=	coding	Benign
16	58167855	A	G	A58167855G	CSNK2A2	NM_001896.4(CSNK2A2):c.514-60T>C	noncoding	Benign
16	58167945	C	T	C58167945T	CSNK2A2	NM_001896.4(CSNK2A2):c.514-150G>A	noncoding	Benign
16	58168027	T	C	T58168027C	CSNK2A2	NM_001896.4(CSNK2A2):c.514-232A>G	noncoding	Benign
16	58174632	T	C	T58174632C	CSNK2A2	NM_001896.4(CSNK2A2):c.370-122A>G	noncoding	Benign
16	58184072	T	C	T58184072C	CSNK2A2	NM_001896.4(CSNK2A2):c.369+188A>G	noncoding	Benign
16	58184585	G	A	G58184585A	CSNK2A2	NM_001896.4(CSNK2A2):c.319-275C>T	noncoding	Benign
16	58196420	A	G	A58196420G	CSNK2A2	NM_001896.4(CSNK2A2):c.216+313T>C	noncoding	Benign
16	58197362	C	T	C58197362T	CSNK2A2	NM_001896.4(CSNK2A2):c.104+271G>A	noncoding	Benign
16	58197583	G	A	G58197583A	CSNK2A2	NM_001896.4(CSNK2A2):c.104+50C>T	noncoding	Benign
16	58197773	G	A	G58197773A	CSNK2A2	NM_001896.4(CSNK2A2):c.-37C>T	noncoding	Benign
16	58494908	G	A	G58494908A	NDRG4	NM_020465.4(NDRG4):c.73-56G>A	noncoding	Benign
16	58499805	G	T	G58499805T	NDRG4	NM_020465.4(NDRG4):c.118-3993G>T	noncoding	Benign
16	58500028	A	C	A58500028C	NDRG4	NM_020465.4(NDRG4):c.118-3770A>C	noncoding	Benign
16	58503993	G	A	G58503993A	NDRG4	NM_001242835.2(NDRG4):c.127+90G>A	noncoding	Benign
16	58504758	C	T	C58504758T	NDRG4	NM_001242835.2(NDRG4):c.372+109C>T	noncoding	Benign
16	58504839	A	T	A58504839T	NDRG4	NM_001242835.2(NDRG4):c.372+190A>T	noncoding	Benign
16	58506158	C	G	C58506158G	NDRG4	NM_001242835.2(NDRG4):c.373-229C>G	noncoding	Benign
16	58506627	A	G	A58506627G	NDRG4	NM_001242835.2(NDRG4):c.516+13A>G	noncoding	Benign
16	58506689	C	T	C58506689T	NDRG4	NM_001242835.2(NDRG4):c.516+75C>T	noncoding	Benign
16	58506971	G	A	G58506971A	NDRG4	NM_001242835.2(NDRG4):c.576G>A:p.Val192=	coding	Benign
16	58507593	G	A	G58507593A	NDRG4	NM_001242835.2(NDRG4):c.621-215G>A	noncoding	Benign
16	58508760	G	A	G58508760A	NDRG4	NM_001242835.2(NDRG4):c.730-202G>A	noncoding	Benign
16	58508997	G	A	G58508997A	NDRG4	NM_001242835.2(NDRG4):c.765G>A:p.Thr255=	coding	Benign
16	58509427	T	G	T58509427G	NDRG4	NM_001242835.2(NDRG4):c.865+75T>G	noncoding	Benign
16	58509435	C	T	C58509435T	NDRG4	NM_001242835.2(NDRG4):c.865+83C>T	noncoding	Benign
16	58509656	C	A	C58509656A	NDRG4	NM_001242835.2(NDRG4):c.865+304C>A	noncoding	Benign
16	58510391	G	C	G58510391C	NDRG4	NM_001242835.2(NDRG4):c.866-254G>C	noncoding	Benign
16	58510736	C	A	C58510736A	NDRG4	NM_001242835.2(NDRG4):c.904+53C>A	noncoding	Benign
16	58510736	C	G	C58510736G	NDRG4	NM_001242835.2(NDRG4):c.904+53C>G	noncoding	Benign
16	58510847	G	A	G58510847A	NDRG4	NM_001242835.2(NDRG4):c.904+164G>A	noncoding	Benign
16	58511164	G	A	G58511164A	NDRG4	NM_001242835.2(NDRG4):c.905-258G>A	noncoding	Benign
16	58511522	A	G	A58511522G	NDRG4	NM_001242835.2(NDRG4):c.1005A>G:p.Ser335=	coding	Benign
16	58511866	C	T	C58511866T	NDRG4	NM_001242835.2(NDRG4):c.*290C>T	noncoding	Benign
16	58511881	C	T	C58511881T	NDRG4	NM_001242835.2(NDRG4):c.*305C>T	noncoding	Benign
16	58520876	C	T	C58520876T	CNOT1	NM_016284.5(CNOT1):c.*82G>A	noncoding	Benign
16	58523438	G	A	G58523438A	CNOT1	NM_016284.5(CNOT1):c.6849C>T:p.Tyr2283=	coding	Benign
16	58525085	C	T	C58525085T	CNOT1	NM_016284.5(CNOT1):c.6784+94G>A	noncoding	Benign
16	58525510	C	T	C58525510T	CNOT1	NM_016284.5(CNOT1):c.6604-151G>A	noncoding	Benign
16	58526301	G	C	G58526301C	CNOT1	NM_016284.5(CNOT1):c.6454-163C>G	noncoding	Benign
16	58532215	G	A	G58532215A	CNOT1	NM_016284.5(CNOT1):c.6059+17C>T	noncoding	Benign
16	58532400	G	A	G58532400A	CNOT1	NM_016284.5(CNOT1):c.5896-5C>T	noncoding	Benign
16	58537281	C	T	C58537281T	CNOT1	NM_016284.5(CNOT1):c.5415-61G>A	noncoding	Benign
16	58537285	T	C	T58537285C	CNOT1	NM_016284.5(CNOT1):c.5415-65A>G	noncoding	Benign
16	58537405	A	G	A58537405G	CNOT1	NM_016284.5(CNOT1):c.5415-185T>C	noncoding	Benign
16	58538106	C	A	C58538106A	CNOT1	NM_016284.5(CNOT1):c.5245-46G>T	noncoding	Benign
16	58539667	T	A	T58539667A	CNOT1	NM_016284.5(CNOT1):c.4992+101A>T	noncoding	Benign
16	58539997	G	A	G58539997A	CNOT1	NM_016284.5(CNOT1):c.4801-38C>T	noncoding	Benign
16	58540042	C	T	C58540042T	CNOT1	NM_016284.5(CNOT1):c.4801-83G>A	noncoding	Benign
16	58541585	G	A	G58541585A	CNOT1	NM_016284.5(CNOT1):c.4716C>T:p.Tyr1572=	coding	Benign
16	58542027	C	G	C58542027G	CNOT1	NM_016284.5(CNOT1):c.4680+204G>C	noncoding	Benign
16	58542479	C	T	C58542479T	CNOT1	NM_016284.5(CNOT1):c.4524G>A:p.Gln1508=	coding	Benign
16	58543234	A	C	A58543234C	CNOT1	NM_016284.5(CNOT1):c.4434+373T>G	coding	Benign
16	58543517	C	T	C58543517T	CNOT1	NM_016284.5(CNOT1):c.4434+90G>A	coding	Benign
16	58543720	C	T	C58543720T	CNOT1	NM_016284.5(CNOT1):c.4321G>A:p.Ala1441Thr	coding	Pathogenic
16	58545254	A	C	A58545254C	CNOT1	NM_016284.5(CNOT1):c.4137+107T>G	noncoding	Benign
16	58545370	C	T	C58545370T	CNOT1	NM_016284.5(CNOT1):c.4128G>A:p.Leu1376=	coding	Benign
16	58546309	T	C	T58546309C	CNOT1	NM_016284.5(CNOT1):c.4006+12A>G	noncoding	Benign
16	58546615	A	C	A58546615C	CNOT1	NM_016284.5(CNOT1):c.3828+57T>G	noncoding	Benign
16	58546626	T	C	T58546626C	CNOT1	NM_016284.5(CNOT1):c.3828+46A>G	noncoding	Benign
16	58547324	C	T	C58547324T	CNOT1	NM_016284.5(CNOT1):c.3640-28G>A	noncoding	Benign
16	58547643	C	A	C58547643A	CNOT1	NM_016284.5(CNOT1):c.3562G>T:p.Asp1188Tyr	coding	Pathogenic
16	58547817	C	T	C58547817T	CNOT1	NM_016284.5(CNOT1):c.3523-135G>A	noncoding	Benign
16	58550071	A	G	A58550071G	CNOT1	NM_016284.5(CNOT1):c.3343-173T>C	noncoding	Benign
16	58551465	C	A	C58551465A	CNOT1	NM_016284.5(CNOT1):c.3201+124G>T	noncoding	Benign
16	58553833	C	T	C58553833T	CNOT1	NM_016284.5(CNOT1):c.2919G>A:p.Gln973=	coding	Benign
16	58555283	G	A	G58555283A	CNOT1	NM_016284.5(CNOT1):c.2859C>T:p.Phe953=	coding	Benign
16	58558374	C	T	C58558374T	CNOT1	NM_016284.5(CNOT1):c.2332+99G>A	noncoding	Benign
16	58574532	A	G	A58574532G	CNOT1	NM_016284.5(CNOT1):c.1979+77T>C	noncoding	Benign
16	58576733	G	A	G58576733A	CNOT1	NM_016284.5(CNOT1):c.1585-151C>T	noncoding	Benign
16	58580433	A	C	A58580433C	CNOT1	NM_016284.5(CNOT1):c.1343+200T>G	noncoding	Benign
16	58580777	T	C	T58580777C	CNOT1	NM_016284.5(CNOT1):c.1216-17A>G	noncoding	Benign
16	58580829	C	T	C58580829T	CNOT1	NM_016284.5(CNOT1):c.1216-69G>A	noncoding	Benign
16	58580839	G	T	G58580839T	CNOT1	NM_016284.5(CNOT1):c.1216-79C>A	noncoding	Benign
16	58581674	T	A	T58581674A	CNOT1	NM_016284.5(CNOT1):c.1045-159A>T	noncoding	Benign
16	58581678	T	C	T58581678C	CNOT1	NM_016284.5(CNOT1):c.1045-163A>G	noncoding	Benign
16	58581679	T	A	T58581679A	CNOT1	NM_016284.5(CNOT1):c.1045-164A>T	noncoding	Benign
16	58583080	T	C	T58583080C	CNOT1	NM_016284.5(CNOT1):c.909A>G:p.Gly303=	coding	Benign
16	58583093	C	T	C58583093T	CNOT1	NM_016284.5(CNOT1):c.896G>A:p.Arg299Gln	coding	Benign
16	58585507	C	T	C58585507T	CNOT1	NM_016284.5(CNOT1):c.638-1G>A	coding	Pathogenic
16	58586531	A	C	A58586531C	CNOT1	NM_016284.5(CNOT1):c.637+14T>G	noncoding	Benign
16	58587091	A	G	A58587091G	CNOT1	NM_016284.5(CNOT1):c.433+110T>C	noncoding	Benign
16	58587106	T	C	T58587106C	CNOT1	NM_016284.5(CNOT1):c.433+95A>G	noncoding	Benign
16	58587138	A	G	A58587138G	CNOT1	NM_016284.5(CNOT1):c.433+63T>C	noncoding	Benign
16	58587699	C	T	C58587699T	CNOT1	NM_016284.5(CNOT1):c.309+81G>A	noncoding	Benign
16	58588700	G	A	G58588700A	CNOT1	NM_016284.5(CNOT1):c.210+99C>T	noncoding	Benign
16	58588938	G	C	G58588938C	CNOT1	NM_016284.5(CNOT1):c.103-32C>G	noncoding	Benign
16	58588966	G	A	G58588966A	CNOT1	NM_016284.5(CNOT1):c.103-60C>T	noncoding	Benign
16	58709462	G	A	G58709462A	GOT2	NM_002080.4(GOT2):c.1125C>T:p.Thr375=	coding	Benign
16	58709550	A	C	A58709550C	GOT2	NM_002080.4(GOT2):c.1037T>G:p.Val346Gly	coding	Benign
16	58709582	T	C	T58709582C	GOT2	NM_002080.4(GOT2):c.1020-15A>G	noncoding	Benign
16	58716647	G	A	G58716647A	GOT2	NM_002080.4(GOT2):c.853+16C>T	noncoding	Benign
16	58716700	G	A	G58716700A	GOT2	NM_002080.4(GOT2):c.816C>T:p.Cys272=	coding	Benign
16	58718177	G	C	G58718177C	GOT2	NM_002080.4(GOT2):c.702+19C>G	noncoding	Benign
16	58718233	C	T	C58718233T	GOT2	NM_002080.4(GOT2):c.665G>A:p.Arg222His	coding	Benign
16	58718509	C	T	C58718509T	GOT2	NM_002080.4(GOT2):c.597+18G>A	noncoding	Benign
16	58718562	C	T	C58718562T	GOT2	NM_002080.4(GOT2):c.562G>A:p.Gly188Ser	coding	Benign
16	58722174	G	A	G58722174A	GOT2	NM_002080.4(GOT2):c.351C>T:p.Asn117=	coding	Benign
16	58723764	A	C	A58723764C	GOT2	NM_002080.4(GOT2):c.228T>G:p.Val76=	coding	Benign
16	58723779	A	G	A58723779G	GOT2	NM_002080.4(GOT2):c.213T>C:p.Asn71=	coding	Benign
16	58723791	G	A	G58723791A	GOT2	NM_002080.4(GOT2):c.201C>T:p.Tyr67=	coding	Benign
16	58734225	C	A	C58734225A	GOT2	NM_002080.4(GOT2):c.4G>T:p.Ala2Ser	coding	Benign
16	64971559	G	A	G64971559A	CDH11	NM_001797.4(CDH11):c.1642+20C>T	noncoding	Benign
16	64982005	C	G	C64982005G	CDH11	NM_001797.4(CDH11):c.1253+43G>C	noncoding	Benign
16	64982180	A	T	A64982180T	CDH11	NM_001797.4(CDH11):c.1121T>A:p.Val374Glu	coding	Pathogenic
16	64982184	A	C	A64982184C	CDH11	NM_001797.4(CDH11):c.1117T>G:p.Ser373Ala	coding	Benign
16	64988177	C	A	C64988177A	CDH11	NM_001797.4(CDH11):c.979G>T:p.Gly327Trp	coding	Pathogenic
16	64988211	C	T	C64988211T	CDH11	NM_001797.4(CDH11):c.945G>A:p.Ser315=	coding	Benign
16	64988321	C	G	C64988321G	CDH11	NM_001797.4(CDH11):c.835G>C:p.Glu279Gln	coding	Pathogenic
16	64988331	C	T	C64988331T	CDH11	NM_001797.4(CDH11):c.825G>A:p.Met275Ile	coding	Benign
16	64991755	T	C	T64991755C	CDH11	NM_001797.4(CDH11):c.811+13A>G	noncoding	Benign
16	64991799	A	T	A64991799T	CDH11	NM_001797.4(CDH11):c.780T>A:p.Asp260Glu	coding	Pathogenic
16	64991801	C	T	C64991801T	CDH11	NM_001797.4(CDH11):c.778G>A:p.Asp260Asn	coding	Pathogenic
16	64991815	G	A	G64991815A	CDH11	NM_001797.4(CDH11):c.764C>T:p.Thr255Met	coding	Benign
16	64991946	A	G	A64991946G	CDH11	NM_001797.4(CDH11):c.644-11T>C	noncoding	Benign
16	65004706	C	G	C65004706G	CDH11	NM_001797.4(CDH11):c.164G>C:p.Trp55Ser	coding	Pathogenic
16	66512126	C	T	C66512126T	TK2	NM_004614.5(TK2):c.700-60G>A	noncoding	Benign
16	66513738	G	A	G66513738A	TK2	NM_004614.5(TK2):c.692C>T:p.Pro231Leu	coding	Pathogenic
16	66513816	C	G	C66513816G	TK2	NM_004614.5(TK2):c.619-5G>C	noncoding	Benign
16	66529028	C	T	C66529028T	TK2	NM_004614.5(TK2):c.415G>A:p.Ala139Thr	coding	Pathogenic/Likely_pathogenic
16	66529029	G	T	G66529029T	TK2	NM_004614.5(TK2):c.414C>A:p.Ser138Arg	coding	Pathogenic
16	66529327	G	A	G66529327A	TK2	NM_004614.5(TK2):c.376-260C>T	noncoding	Benign
16	66531589	A	G	A66531589G	TK2	NM_004614.5(TK2):c.286-120T>C	noncoding	Benign
16	66542193	C	T	C66542193T	TK2	NM_004614.5(TK2):c.157-240G>A	noncoding	Benign
16	66549973	C	T	C66549973T	TK2	NM_004614.5(TK2):c.89G>A:p.Gly30Glu	coding	Benign
16	66759258	G	A	G66759258A	TERB1	NM_001136505.2(TERB1):c.1813C>T:p.Arg605Ter	coding	Pathogenic
16	66767492	G	C	G66767492C	TERB1	NM_001136505.2(TERB1):c.1703C>G:p.Ser568Ter	coding	Pathogenic
16	66778983	C	T	C66778983T	TERB1	NM_001136505.2(TERB1):c.733G>A:p.Gly245Arg	coding	Pathogenic
16	66808562	C	T	C66808562T	NAE1	NM_003905.4(NAE1):c.1289G>A:p.Arg430Gln	coding	Pathogenic
16	66813805	G	C	G66813805C	NAE1	NM_003905.4(NAE1):c.882C>G:p.Cys294Trp	coding	Pathogenic
16	66826687	C	G	C66826687G	NAE1	NM_003905.4(NAE1):c.147G>C:p.Leu49Phe	coding	Pathogenic
16	67029486	G	T	G67029486T	CBFB	NM_022845.3(CBFB):c.78+1G>T	coding	Pathogenic
16	67029596	G	A	G67029596A	CBFB	NM_022845.3(CBFB):c.78+111G>A	noncoding	Benign
16	67029709	G	T	G67029709T	CBFB	NM_022845.3(CBFB):c.79-18G>T	noncoding	Benign
16	67082452	G	A	G67082452A	CBFB	NM_022845.3(CBFB):c.495+144G>A	noncoding	Benign
16	67154888	C	G	C67154888G	TRADD	NM_003789.4(TRADD):c.700G>C:p.Gly234Arg	coding	Pathogenic
16	67165456	C	G	C67165456G	HSF4	NM_001374675.1(HSF4):c.124-66C>G	noncoding	Benign
16	67165977	G	A	G67165977A	HSF4	NM_001374675.1(HSF4):c.392G>A:p.Trp131Ter	coding	Pathogenic
16	67169647	C	G	C67169647G	HSF4	NM_001374675.1(HSF4):c.1341C>G:p.Leu447=	coding	Benign/Likely_benign
16	67199363	A	C	A67199363C	E2F4	NM_024712.5(ELMO3):c.37A>C:p.Lys13Gln	coding	Benign
16	67270780	C	G	C67270780G	SLC9A5	NM_004594.3(SLC9A5):c.2261C>G:p.Ser754Cys	coding	Pathogenic
16	67430991	G	A	G67430991A	HSD11B2	Single_allele	noncoding	Benign
16	67431425	C	A	C67431425A	HSD11B2	NM_000196.4(HSD11B2):c.177C>A:p.Ala59=	coding	Benign/Likely_benign
16	67436424	A	G	A67436424G	HSD11B2	NM_000196.4(HSD11B2):c.802+38A>G	noncoding	Benign
16	67436602	G	A	G67436602A	HSD11B2	NM_000196.4(HSD11B2):c.817G>A:p.Val273Met	coding	Benign
16	67483276	C	T	C67483276T	AGRP	NM_001138.2(AGRP):c.123G>A:p.Glu41=	coding	Benign
16	67610546	G	A	G67610546A	CTCF	NM_006565.4(CTCF):c.-9-278G>A	noncoding	Benign
16	67610813	C	T	C67610813T	CTCF	NM_006565.4(CTCF):c.-9-11C>T	noncoding	Benign
16	67611509	A	G	A67611509G	CTCF	NM_006565.4(CTCF):c.677A>G:p.Tyr226Cys	coding	Pathogenic
16	67616816	C	T	C67616816T	CTCF	NM_006565.4(CTCF):c.1024C>T:p.Arg342Cys	coding	Pathogenic/Likely_pathogenic
16	67616817	G	A	G67616817A	CTCF	NM_006565.4(CTCF):c.1025G>A:p.Arg342His	coding	Pathogenic/Likely_pathogenic
16	67620609	C	G	C67620609G	CTCF	NM_006565.4(CTCF):c.1087-88C>G	noncoding	Benign
16	67620688	G	A	G67620688A	CTCF	NM_006565.4(CTCF):c.1087-9G>A	noncoding	Benign
16	67620712	C	T	C67620712T	CTCF	NM_006565.4(CTCF):c.1102C>T:p.Arg368Cys	coding	Pathogenic
16	67620713	G	A	G67620713A	CTCF	NM_006565.4(CTCF):c.1103G>A:p.Arg368His	coding	Pathogenic
16	67620727	C	G	C67620727G	CTCF	NM_006565.4(CTCF):c.1117C>G:p.His373Asp	coding	Pathogenic
16	67620739	C	T	C67620739T	CTCF	NM_006565.4(CTCF):c.1129C>T:p.Arg377Cys	coding	Pathogenic
16	67620743	C	T	C67620743T	CTCF	NM_006565.4(CTCF):c.1133C>T:p.Pro378Leu	coding	Pathogenic
16	67621230	T	C	T67621230C	CTCF	NM_006565.4(CTCF):c.1208-212T>C	noncoding	Benign
16	67621577	G	A	G67621577A	CTCF	NM_006565.4(CTCF):c.1343G>A:p.Arg448Gln	coding	Pathogenic
16	67626706	T	C	T67626706C	CTCF	NM_006565.4(CTCF):c.1509T>C:p.Ala503=	coding	Benign/Likely_benign
16	67628363	G	A	G67628363A	CTCF	NM_006565.4(CTCF):c.1519-7G>A	noncoding	Benign
16	67636730	G	A	G67636730A	CTCF	NM_006565.4(CTCF):c.1878G>A:p.Glu626=	coding	Benign/Likely_benign
16	67637839	G	A	G67637839A	CTCF	NM_006565.4(CTCF):c.2151G>A:p.Thr717=	coding	Benign
16	67637901	T	G	T67637901G	CTCF	NM_006565.4(CTCF):c.*29T>G	noncoding	Benign
16	67645283	C	T	C67645283T	CARMIL2	NM_001013838.3(CARMIL2):c.37C>T:p.Arg13Ter	coding	Pathogenic
16	67646302	G	A	G67646302A	CARMIL2	NM_001013838.3(CARMIL2):c.366G>A:p.Ser122=	coding	Benign
16	67646497	C	G	C67646497G	CARMIL2	NM_001013838.3(CARMIL2):c.446C>G:p.Thr149Ser	coding	Benign
16	67646767	C	T	C67646767T	CARMIL2	NM_001013838.3(CARMIL2):c.520C>T:p.Arg174Ter	coding	Pathogenic/Likely_pathogenic
16	67646903	G	A	G67646903A	CARMIL2	NM_001013838.3(CARMIL2):c.541G>A:p.Val181Met	coding	Benign
16	67647267	C	T	C67647267T	CARMIL2	NM_001013838.3(CARMIL2):c.688-32C>T	noncoding	Benign
16	67647490	C	T	C67647490T	CARMIL2	NM_001013838.3(CARMIL2):c.777-18C>T	noncoding	Benign
16	67647668	C	A	C67647668A	CARMIL2	NM_001013838.3(CARMIL2):c.872-12C>A	noncoding	Benign
16	67647690	A	T	A67647690T	CARMIL2	NM_001013838.3(CARMIL2):c.882A>T:p.Ala294=	coding	Benign
16	67648089	C	A	C67648089A	CARMIL2	NM_001013838.3(CARMIL2):c.1109C>A:p.Ser370Ter	coding	Pathogenic
16	67648288	C	G	C67648288G	CARMIL2	NM_001013838.3(CARMIL2):c.1308C>G:p.Asp436Glu	coding	Benign
16	67648330	C	T	C67648330T	CARMIL2	NM_001013838.3(CARMIL2):c.1334+16C>T	noncoding	Benign
16	67648331	G	A	G67648331A	CARMIL2	NM_001013838.3(CARMIL2):c.1334+17G>A	noncoding	Benign
16	67648677	T	C	T67648677C	CARMIL2	NM_001013838.3(CARMIL2):c.1440-8T>C	noncoding	Benign
16	67648768	C	A	C67648768A	CARMIL2	NM_001013838.3(CARMIL2):c.1509+14C>A	noncoding	Benign
16	67649182	C	T	C67649182T	CARMIL2	NM_001013838.3(CARMIL2):c.1688+10C>T	noncoding	Benign
16	67649327	C	A	C67649327A	CARMIL2	NM_001013838.3(CARMIL2):c.1746+16C>A	noncoding	Benign
16	67649546	A	G	A67649546G	CARMIL2	NM_001013838.3(CARMIL2):c.1846A>G:p.Ile616Val	coding	Benign
16	67650038	C	A	C67650038A	CARMIL2	NM_001013838.3(CARMIL2):c.2083-11C>A	noncoding	Benign
16	67651288	C	T	C67651288T	CARMIL2	NM_001013838.3(CARMIL2):c.2286C>T:p.Ala762=	coding	Benign/Likely_benign
16	67651395	C	T	C67651395T	CARMIL2	NM_001013838.3(CARMIL2):c.2314-6C>T	noncoding	Benign
16	67651791	G	A	G67651791A	CARMIL2	NM_001013838.3(CARMIL2):c.2534G>A:p.Gly845Asp	coding	Benign
16	67651827	A	T	A67651827T	CARMIL2	NM_001013838.3(CARMIL2):c.2570A>T:p.Asp857Val	coding	Benign
16	67651863	G	A	G67651863A	CARMIL2	NM_001013838.3(CARMIL2):c.2588+18G>A	noncoding	Benign
16	67651929	G	A	G67651929A	CARMIL2	NM_001013838.3(CARMIL2):c.2597G>A:p.Arg866Gln	coding	Benign
16	67651997	C	T	C67651997T	CARMIL2	NM_001013838.3(CARMIL2):c.2665C>T:p.Arg889Trp	coding	Benign
16	67652479	G	A	G67652479A	CARMIL2	NM_001013838.3(CARMIL2):c.2825G>A:p.Ser942Asn	coding	Benign
16	67653006	G	C	G67653006C	CARMIL2	NM_001013838.3(CARMIL2):c.2885-13G>C	noncoding	Benign
16	67653021	G	A	G67653021A	CARMIL2	NM_001013838.3(CARMIL2):c.2887G>A:p.Ala963Thr	coding	Benign/Likely_benign
16	67654166	G	A	G67654166A	CARMIL2	NM_001013838.3(CARMIL2):c.3138G>A:p.Pro1046=	coding	Benign
16	67654200	G	A	G67654200A	CARMIL2	NM_001013838.3(CARMIL2):c.3172G>A:p.Glu1058Lys	coding	Benign
16	67654269	T	C	T67654269C	CARMIL2	NM_001013838.3(CARMIL2):c.3221+20T>C	noncoding	Benign
16	67654369	G	C	G67654369C	CARMIL2	NM_001013838.3(CARMIL2):c.3259G>C:p.Ala1087Pro	coding	Benign/Likely_benign
16	67654441	C	A	C67654441A	CARMIL2	NM_001013838.3(CARMIL2):c.3331C>A:p.Arg1111=	coding	Benign
16	67654603	C	T	C67654603T	CARMIL2	NM_001013838.3(CARMIL2):c.3493C>T:p.Arg1165Ter	coding	Pathogenic
16	67654661	A	T	A67654661T	CARMIL2	NM_001013838.3(CARMIL2):c.3551A>T:p.Glu1184Val	coding	Benign
16	67654664	A	C	A67654664C	CARMIL2	NM_001013838.3(CARMIL2):c.3554A>C:p.Glu1185Ala	coding	Benign
16	67654773	C	G	C67654773G	CARMIL2	NM_001013838.3(CARMIL2):c.3583-5C>G	noncoding	Benign
16	67656218	C	T	C67656218T	CARMIL2	NM_001013838.3(CARMIL2):c.3743-10C>T	noncoding	Benign
16	67657337	G	A	G67657337A	ACD	NM_001013838.3(CARMIL2):c.4195+21G>A	noncoding	Benign
16	67657355	C	T	C67657355T	ACD;CARMIL2	NM_001013838.3(CARMIL2):c.4195+39C>T	noncoding	Benign/Likely_benign
16	67657574	A	T	A67657574T	ACD	NM_001082486.2(ACD):c.*32T>A	noncoding	Benign
16	67657742	G	T	G67657742T	ACD	NM_001082486.2(ACD):c.1298+20C>A	noncoding	Benign
16	67657765	A	G	A67657765G	ACD	NM_001082486.2(ACD):c.1295T>C:p.Val432Ala	coding	Benign
16	67659099	G	A	G67659099A	ACD	NM_001082486.2(ACD):c.494-20C>T	noncoding	Benign
16	67659534	T	C	T67659534C	ACD	NM_001082486.2(ACD):c.413+3A>G	noncoding	Benign
16	67660104	C	T	C67660104T	ACD	NM_001082486.2(ACD):c.99+18G>A	noncoding	Benign
16	67660685	C	T	C67660685T	ACD	Single_allele	noncoding	Benign
16	67660703	A	G	A67660703G	ACD	NC_000016.9:g.67694606A>G	noncoding	Benign/Likely_benign
16	67829548	T	C	T67829548C	CENPT	NM_025082.4(CENPT):c.1187-32A>G	noncoding	Benign
16	67831170	G	A	G67831170A	CENPT	NM_025082.4(CENPT):c.703+46C>T	noncoding	Benign
16	67833836	G	T	G67833836T	CENPT	NM_025082.4(CENPT):c.24C>A:p.Ser8Arg	coding	Benign
16	67842118	G	A	G67842118A	THAP11	NM_025082.4(CENPT):c.-492+5283C>T	noncoding	Benign
16	67842450	G	A	G67842450A	THAP11	NM_020457.3(THAP11):c.-105G>A	noncoding	Benign
16	67842563	C	G	C67842563G	THAP11	NM_020457.3(THAP11):c.9C>G:p.Gly3=	coding	Benign
16	67842572	C	T	C67842572T	THAP11	NM_020457.3(THAP11):c.18C>T:p.Cys6=	coding	Benign
16	67842875	A	G	A67842875G	THAP11	NM_020457.3(THAP11):c.321A>G:p.Gln107=	coding	Benign
16	67842902	A	G	A67842902G	THAP11	NM_020457.3(THAP11):c.348A>G:p.Gln116=	coding	Benign
16	67843031	C	T	C67843031T	THAP11	NM_020457.3(THAP11):c.477C>T:p.Thr159=	coding	Benign
16	67936709	A	G	A67936709G	PSMB10	NM_002801.4(PSMB10):c.41T>C:p.Phe14Ser	coding	Pathogenic
16	67939604	A	G	A67939604G	LCAT	Single_allele	noncoding	Benign
16	67939666	C	T	C67939666T	LCAT	Single_allele	noncoding	Benign
16	67940095	C	T	C67940095T	LCAT	NM_000229.2(LCAT):c.1132G>A:p.Glu378Lys	coding	Benign/Likely_benign
16	67942417	A	T	A67942417T	LCAT	NM_000229.2(LCAT):c.694T>A:p.Ser232Thr	coding	Benign/Likely_benign
16	67942703	C	T	C67942703T	LCAT	NM_000229.2(LCAT):c.491G>A:p.Arg164His	coding	Pathogenic
16	67942789	G	T	G67942789T	LCAT	NM_000229.2(LCAT):c.428-23C>A	noncoding	Benign
16	67943479	T	C	T67943479C	SLC12A4	NM_005072.5(SLC12A4):c.*1361A>G	coding	Benign
16	67943793	A	C	A67943793C	LCAT	NM_000229.2(LCAT):c.154+155T>G	coding	Benign
16	68321428	C	A	C68321428A	PRMT7	NM_019023.5(PRMT7):c.98C>A:p.Ser33Ter	coding	Pathogenic
16	68329187	C	T	C68329187T	PRMT7	NM_019023.5(PRMT7):c.391+13C>T	noncoding	Benign
16	68339525	C	T	C68339525T	PRMT7	NM_019023.5(PRMT7):c.708C>T:p.Ala236=	coding	Benign
16	68339861	C	T	C68339861T	PRMT7	NM_019023.5(PRMT7):c.820C>T:p.Arg274Ter	coding	Pathogenic/Likely_pathogenic
16	68346186	G	A	G68346186A	PRMT7	NM_019023.5(PRMT7):c.1097G>A:p.Cys366Tyr	coding	Pathogenic
16	68347613	G	A	G68347613A	PRMT7	NM_019023.5(PRMT7):c.1276-18G>A	noncoding	Benign
16	68353554	C	T	C68353554T	PRMT7	NM_019023.5(PRMT7):c.1638C>T:p.Asp546=	coding	Benign
16	68353593	A	C	A68353593C	PRMT7	NM_019023.5(PRMT7):c.1650+27A>C	noncoding	Benign
16	68355718	C	T	C68355718T	PRMT7	NM_019023.5(PRMT7):c.1651-5C>T	noncoding	Benign
16	68355719	G	A	G68355719A	PRMT7	NM_019023.5(PRMT7):c.1651-4G>A	noncoding	Benign
16	68355869	C	T	C68355869T	PRMT7	NM_019023.5(PRMT7):c.1797C>T:p.Thr599=	coding	Benign
16	68356704	C	T	C68356704T	PRMT7	NM_019023.5(PRMT7):c.1815C>T:p.Pro605=	coding	Benign/Likely_benign
16	68356794	C	T	C68356794T	PRMT7	NM_019023.5(PRMT7):c.1905C>T:p.Pro635=	coding	Benign
16	68356808	C	T	C68356808T	PRMT7	NM_019023.5(PRMT7):c.1908+11C>T	noncoding	Benign
16	68645699	A	T	A68645699T	CDH3	NM_001793.6(CDH3):c.109A>T:p.Thr37Ser	coding	Benign/Likely_benign
16	68645751	G	A	G68645751A	CDH3	NM_001793.6(CDH3):c.160+1G>A	coding	Pathogenic
16	68645867	G	A	G68645867A	CDH3	NM_001793.6(CDH3):c.160+117G>A	noncoding	Benign
16	68676262	T	C	T68676262C	CDH3	NM_001793.6(CDH3):c.161-123T>C	noncoding	Benign
16	68678797	A	C	A68678797C	CDH3	NM_001793.6(CDH3):c.582A>C:p.Ser194=	coding	Benign
16	68678876	C	T	C68678876T	CDH3	NM_001793.6(CDH3):c.661C>T:p.Arg221Ter	coding	Pathogenic
16	68680951	C	T	C68680951T	CDH3	NM_001793.6(CDH3):c.868-17C>T	noncoding	Benign
16	68682163	G	A	G68682163A	CDH3	NM_001793.6(CDH3):c.997-139G>A	noncoding	Benign
16	68682276	T	C	T68682276C	CDH3	NM_001793.6(CDH3):c.997-26T>C	noncoding	Benign
16	68682391	G	A	G68682391A	CDH3	NM_001793.6(CDH3):c.1086G>A:p.Trp362Ter	coding	Pathogenic
16	68684464	T	C	T68684464C	CDH3	NM_001793.6(CDH3):c.1183-119T>C	noncoding	Benign
16	68684636	C	T	C68684636T	CDH3	NM_001793.6(CDH3):c.1236C>T:p.Asn412=	coding	Benign
16	68684847	A	G	A68684847G	CDH3	NM_001793.6(CDH3):c.1424+23A>G	noncoding	Benign
16	68685299	C	T	C68685299T	CDH3	NM_001793.6(CDH3):c.1519C>T:p.Gln507Ter	coding	Pathogenic
16	68685348	A	G	A68685348G	CDH3	NM_001793.6(CDH3):c.1568A>G:p.Asn523Ser	coding	Benign
16	68687437	G	A	G68687437A	CDH3	NM_001793.6(CDH3):c.1571-75G>A	noncoding	Benign
16	68691583	A	G	A68691583G	CDH3	NM_001793.6(CDH3):c.1796-137A>G	noncoding	Benign
16	68695035	C	T	C68695035T	CDH3	NM_001793.6(CDH3):c.2003-220C>T	noncoding	Benign
16	68695073	C	A	C68695073A	CDH3	NM_001793.6(CDH3):c.2003-182C>A	noncoding	Benign
16	68695209	A	G	A68695209G	CDH3	NM_001793.6(CDH3):c.2003-46A>G	noncoding	Benign
16	68695622	C	T	C68695622T	CDH3	NM_001793.6(CDH3):c.2134-155C>T	noncoding	Benign
16	68695623	G	A	G68695623A	CDH3	NM_001793.6(CDH3):c.2134-154G>A	noncoding	Benign
16	68697903	T	C	T68697903C	CDH3	NM_001793.6(CDH3):c.2281-288T>C	noncoding	Benign
16	68698146	A	C	A68698146C	CDH3	NM_001793.6(CDH3):c.2281-45A>C	coding	Benign
16	68736963	C	A	C68736963A	CDH1	Single_allele	noncoding	Benign
16	68737140	T	C	T68737140C	CDH1	NM_004360.4(CDH1):c.-276T>C	noncoding	Benign
16	68737427	G	A	G68737427A	CDH1	NM_004360.5(CDH1):c.12G>A:p.Trp4Ter	coding	Pathogenic
16	68737442	G	A	G68737442A	CDH1	NM_004360.5(CDH1):c.27G>A:p.Ser9=	coding	Benign/Likely_benign
16	68737482	C	T	C68737482T	CDH1	NM_004360.5(CDH1):c.48+19C>T	noncoding	Benign/Likely_benign
16	68737644	G	C	G68737644C	CDH1	NM_004360.5(CDH1):c.48+181G>C	noncoding	Benign
16	68738002	A	C	A68738002C	CDH1	NM_004360.5(CDH1):c.49-295A>C	noncoding	Benign
16	68738314	C	A	C68738314A	CDH1	NM_004360.5(CDH1):c.66C>A:p.Cys22Ter	coding	Pathogenic
16	68738324	G	T	G68738324T	CDH1	NM_004360.5(CDH1):c.76G>T:p.Glu26Ter	coding	Pathogenic
16	68738332	C	A	C68738332A	CDH1	NM_004360.5(CDH1):c.84C>A:p.Cys28Ter	coding	Pathogenic
16	68738362	G	C	G68738362C	CDH1	NM_004360.5(CDH1):c.114G>C:p.Thr38=	coding	Benign/Likely_benign
16	68738412	G	A	G68738412A	CDH1	NM_004360.5(CDH1):c.163+1G>A	coding	Pathogenic/Likely_pathogenic
16	68787043	G	A	G68787043A	CDH1	NM_004360.5(CDH1):c.164-14627G>A	noncoding	Benign
16	68801678	G	T	G68801678T	CDH1	NM_004360.5(CDH1):c.172G>T:p.Glu58Ter	coding	Pathogenic
16	68801696	C	T	C68801696T	CDH1	NM_004360.5(CDH1):c.190C>T:p.Gln64Ter	coding	Pathogenic
16	68801809	C	A	C68801809A	CDH1	NM_004360.5(CDH1):c.303C>A:p.Tyr101Ter	coding	Pathogenic
16	68801815	G	A	G68801815A	CDH1	NM_004360.5(CDH1):c.309G>A:p.Trp103Ter	coding	Pathogenic
16	68801843	A	T	A68801843T	CDH1	NM_004360.5(CDH1):c.337A>T:p.Lys113Ter	coding	Pathogenic
16	68801881	C	A	C68801881A	CDH1	NM_004360.5(CDH1):c.375C>A:p.Pro125=	coding	Benign/Likely_benign
16	68808493	A	T	A68808493T	CDH1	NM_004360.5(CDH1):c.457A>T:p.Lys153Ter	coding	Pathogenic
16	68808503	G	A	G68808503A	CDH1	NM_004360.5(CDH1):c.467G>A:p.Trp156Ter	coding	Pathogenic
16	68808504	G	A	G68808504A	CDH1	NM_004360.5(CDH1):c.468G>A:p.Trp156Ter	coding	Pathogenic
16	68808707	A	C	A68808707C	CDH1	NM_004360.5(CDH1):c.546A>C:p.Lys182Asn	coding	Benign
16	68808731	C	A	C68808731A	CDH1	NM_004360.5(CDH1):c.570C>A:p.Tyr190Ter	coding	Pathogenic
16	68808731	C	G	C68808731G	CDH1	NM_004360.5(CDH1):c.570C>G:p.Tyr190Ter	coding	Pathogenic
16	68808731	C	T	C68808731T	CDH1	NM_004360.5(CDH1):c.570C>T:p.Tyr190=	coding	Benign/Likely_benign
16	68808789	G	T	G68808789T	CDH1	NM_004360.5(CDH1):c.628G>T:p.Glu210Ter	coding	Pathogenic
16	68808832	G	A	G68808832A	CDH1	NM_004360.5(CDH1):c.671G>A:p.Arg224His	coding	Benign
16	68808849	G	C	G68808849C	CDH1	NM_004360.5(CDH1):c.687+1G>C	coding	Pathogenic/Likely_pathogenic
16	68808992	G	A	G68808992A	CDH1	NM_004360.5(CDH1):c.687+144G>A	noncoding	Benign
16	68810216	C	A	C68810216A	CDH1	NM_004360.5(CDH1):c.707C>A:p.Ser236Ter	coding	Pathogenic
16	68810290	G	T	G68810290T	CDH1	NM_004360.5(CDH1):c.781G>T:p.Glu261Ter	coding	Pathogenic
16	68810302	G	T	G68810302T	CDH1	NM_004360.5(CDH1):c.793G>T:p.Glu265Ter	coding	Pathogenic
16	68810329	G	A	G68810329A	CDH1	NM_004360.5(CDH1):c.820G>A:p.Gly274Ser	coding	Benign
16	68811730	G	A	G68811730A	CDH1	NM_004360.5(CDH1):c.879G>A:p.Val293=	coding	Benign/Likely_benign
16	68811757	C	A	C68811757A	CDH1	NM_004360.5(CDH1):c.906C>A:p.Tyr302Ter	coding	Pathogenic
16	68811808	T	A	T68811808A	CDH1	NM_004360.5(CDH1):c.957T>A:p.Ile319=	coding	Benign/Likely_benign
16	68811906	T	C	T68811906C	CDH1	NM_004360.5(CDH1):c.1008+47T>C	noncoding	Benign
16	68812162	C	T	C68812162T	CDH1	NM_004360.5(CDH1):c.1036C>T:p.Gln346Ter	coding	Pathogenic
16	68813300	C	G	C68813300G	CDH1	NM_004360.5(CDH1):c.1138-13C>G	noncoding	Benign/Likely_benign
16	68813436	G	T	G68813436T	CDH1	NM_004360.5(CDH1):c.1261G>T:p.Gly421Ter	coding	Pathogenic
16	68813484	A	T	A68813484T	CDH1	NM_004360.5(CDH1):c.1309A>T:p.Lys437Ter	coding	Pathogenic
16	68813496	G	T	G68813496T	CDH1	NM_004360.5(CDH1):c.1320+1G>T	coding	Pathogenic/Likely_pathogenic
16	68813540	G	C	G68813540C	CDH1	NM_004360.5(CDH1):c.1320+45G>C	coding	Benign
16	68815674	G	T	G68815674T	CDH1	NM_004360.5(CDH1):c.1480G>T:p.Glu494Ter	coding	Pathogenic
16	68815682	C	T	C68815682T	CDH1	NM_004360.5(CDH1):c.1488C>T:p.Ser496=	coding	Benign/Likely_benign
16	68815934	C	T	C68815934T	CDH1	NM_004360.5(CDH1):c.1565+175C>T	noncoding	Benign
16	68816001	A	G	A68816001G	CDH1	NM_004360.5(CDH1):c.1565+242A>G	noncoding	Benign
16	68819200	C	G	C68819200G	CDH1	NM_004360.5(CDH1):c.1566-80C>G	noncoding	Benign
16	68819283	T	A	T68819283A	CDH1	NM_004360.5(CDH1):c.1569T>A:p.Tyr523Ter	coding	Pathogenic
16	68819283	T	G	T68819283G	CDH1	NM_004360.5(CDH1):c.1569T>G:p.Tyr523Ter	coding	Pathogenic
16	68819291	G	A	G68819291A	CDH1	NM_004360.5(CDH1):c.1577G>A:p.Trp526Ter	coding	Pathogenic
16	68819314	G	T	G68819314T	CDH1	NM_004360.5(CDH1):c.1600G>T:p.Glu534Ter	coding	Pathogenic
16	68819434	G	A	G68819434A	CDH1	NM_004360.5(CDH1):c.1711+9G>A	noncoding	Benign/Likely_benign
16	68819472	G	A	G68819472A	CDH1	NM_004360.5(CDH1):c.1711+47G>A	noncoding	Benign
16	68821871	T	C	T68821871C	CDH1	NM_004360.5(CDH1):c.1712-130T>C	noncoding	Benign
16	68821949	G	C	G68821949C	CDH1	NM_004360.5(CDH1):c.1712-52G>C	noncoding	Benign
16	68821964	T	G	T68821964G	CDH1	NM_004360.5(CDH1):c.1712-37T>G	noncoding	Benign
16	68822190	C	T	C68822190T	CDH1	NM_004360.5(CDH1):c.1901C>T:p.Ala634Val	coding	Pathogenic/Likely_pathogenic
16	68823097	G	A	G68823097A	CDH1	NM_004360.5(CDH1):c.1937-302G>A	noncoding	Benign
16	68823133	C	G	C68823133G	CDH1	NM_004360.5(CDH1):c.1937-266C>G	noncoding	Benign
16	68823404	G	T	G68823404T	CDH1	NM_004360.5(CDH1):c.1942G>T:p.Glu648Ter	coding	Pathogenic
16	68823439	G	A	G68823439A	CDH1	NM_004360.5(CDH1):c.1977G>A:p.Glu659=	coding	Benign/Likely_benign
16	68823566	G	T	G68823566T	CDH1	NM_004360.5(CDH1):c.2104G>T:p.Glu702Ter	coding	Pathogenic
16	68823583	T	C	T68823583C	CDH1	NM_004360.5(CDH1):c.2121T>C:p.Ile707=	coding	Benign/Likely_benign
16	68823598	G	T	G68823598T	CDH1	NM_004360.5(CDH1):c.2136G>T:p.Gly712=	coding	Benign/Likely_benign
16	68823948	A	T	A68823948T	CDH1	NM_004360.5(CDH1):c.2164+322A>T	noncoding	Benign
16	68827961	G	A	G68827961A	CDH1	NM_004360.5(CDH1):c.2165-213G>A	noncoding	Benign
16	68828001	G	A	G68828001A	CDH1	NM_004360.5(CDH1):c.2165-173G>A	noncoding	Benign
16	68828176	C	T	C68828176T	CDH1	NM_004360.5(CDH1):c.2167C>T:p.Leu723=	coding	Benign/Likely_benign
16	68828208	G	A	G68828208A	CDH1	NM_004360.5(CDH1):c.2199G>A:p.Arg733=	coding	Benign/Likely_benign
16	68828214	G	A	G68828214A	CDH1	NM_004360.5(CDH1):c.2205G>A:p.Ala735=	coding	Benign/Likely_benign
16	68828231	T	A	T68828231A	CDH1	NM_004360.5(CDH1):c.2222T>A:p.Leu741Ter	coding	Pathogenic
16	68828281	G	T	G68828281T	CDH1	NM_004360.5(CDH1):c.2272G>T:p.Glu758Ter	coding	Pathogenic
16	68828289	C	T	C68828289T	CDH1	NM_004360.5(CDH1):c.2280C>T:p.Gly760=	coding	Benign/Likely_benign
16	68829411	T	C	T68829411C	CDH1	NM_004360.5(CDH1):c.2296-243T>C	noncoding	Benign
16	68829664	T	A	T68829664A	CDH1	NM_004360.5(CDH1):c.2306T>A:p.Leu769Ter	coding	Pathogenic
16	68829669	C	T	C68829669T	CDH1	NM_004360.5(CDH1):c.2311C>T:p.Gln771Ter	coding	Pathogenic
16	68829849	G	A	G68829849A	CDH1	NM_004360.5(CDH1):c.2439+52G>A	noncoding	Benign
16	68829959	C	T	C68829959T	CDH1	NM_004360.5(CDH1):c.2439+162C>T	noncoding	Benign
16	68829960	T	C	T68829960C	CDH1	NM_004360.5(CDH1):c.2439+163T>C	noncoding	Benign
16	69316132	A	C	A69316132C	VPS4A	NM_013245.3(VPS4A):c.133+13A>C	noncoding	Benign
16	69319531	G	A	G69319531A	VPS4A	NM_013245.3(VPS4A):c.608G>A:p.Gly203Glu	coding	Pathogenic
16	69319539	G	A	G69319539A	VPS4A	NM_013245.3(VPS4A):c.616G>A:p.Glu206Lys	coding	Pathogenic
16	69320768	A	G	A69320768G	VPS4A	NM_013245.3(VPS4A):c.850A>G:p.Arg284Gly	coding	Pathogenic
16	69320768	A	T	A69320768T	VPS4A	NM_013245.3(VPS4A):c.850A>T:p.Arg284Trp	coding	Pathogenic
16	69330540	A	G	A69330540G	COG8	NM_032382.5(COG8):c.*26+273T>C	coding	Benign
16	69333083	G	A	G69333083A	COG8	NM_032382.5(COG8):c.1414-201C>T	noncoding	Benign
16	69334485	G	A	G69334485A	COG8	NM_032382.5(COG8):c.1413+36C>T	noncoding	Benign
16	69335571	A	C	A69335571C	COG8	NM_032382.5(COG8):c.586-223T>G	noncoding	Benign
16	69336355	G	A	G69336355A	COG8	NM_032382.5(COG8):c.585+150C>T	noncoding	Benign
16	69337000	A	G	A69337000G	COG8	NM_032382.5(COG8):c.378-288T>C	noncoding	Benign
16	69339024	T	C	T69339024C	COG8	NM_032382.5(COG8):c.377+152A>G	noncoding	Benign
16	69339948	C	T	C69339948T	COG8	NM_016101.5(NIP7):c.57-58C>T	noncoding	Benign
16	69356678	T	C	T69356678C	TERF2	NM_005652.5(TERF2):c.*220A>G	noncoding	Benign
16	69356739	G	A	G69356739A	TERF2	NM_005652.5(TERF2):c.*159C>T	noncoding	Benign
16	69356756	C	T	C69356756T	TERF2	NM_005652.5(TERF2):c.*142G>A	noncoding	Benign
16	69357756	C	A	C69357756A	TERF2	NM_005652.5(TERF2):c.1427-195G>T	noncoding	Benign
16	69357811	C	G	C69357811G	TERF2	NM_005652.5(TERF2):c.1427-250G>C	noncoding	Benign
16	69361309	G	A	G69361309A	TERF2	NM_005652.5(TERF2):c.1426+95C>T	noncoding	Benign
16	69361531	A	G	A69361531G	TERF2	NM_005652.5(TERF2):c.1341-42T>C	noncoding	Benign
16	69368349	C	T	C69368349T	TERF2	NM_005652.5(TERF2):c.947+27G>A	noncoding	Benign
16	69370338	G	A	G69370338A	TERF2	NM_005652.5(TERF2):c.840+145C>T	noncoding	Benign
16	69384339	A	G	A69384339G	TERF2	NM_005652.5(TERF2):c.606+241T>C	noncoding	Benign
16	69385491	G	A	G69385491A	TERF2	NM_005652.5(TERF2):c.380-5C>T	noncoding	Benign
16	69647317	G	A	G69647317A	NFAT5	NM_138713.4(NFAT5):c.543G>A:p.Gly181=	coding	Benign
16	69647605	T	A	T69647605A	NFAT5	NM_138713.4(NFAT5):c.812+19T>A	noncoding	Benign
16	69659711	T	A	T69659711A	NFAT5	NM_138713.4(NFAT5):c.1197-16T>A	noncoding	Benign
16	69659915	C	T	C69659915T	NFAT5	NM_138713.4(NFAT5):c.1369+16C>T	noncoding	Benign
16	69669960	C	A	C69669960A	NFAT5	NM_138713.4(NFAT5):c.1370-17C>A	noncoding	Benign
16	69690920	T	C	T69690920C	NFAT5	NM_138713.4(NFAT5):c.1775-20T>C	noncoding	Benign
16	69690920	T	G	T69690920G	NFAT5	NM_138713.4(NFAT5):c.1775-20T>G	noncoding	Benign
16	69692505	T	C	T69692505C	NFAT5	NM_138713.4(NFAT5):c.2680T>C:p.Leu894=	coding	Benign
16	69695117	G	T	G69695117T	NFAT5	NM_138713.4(NFAT5):c.4415-19G>T	noncoding	Benign
16	69695126	G	A	G69695126A	NFAT5	NM_138713.4(NFAT5):c.4415-10G>A	noncoding	Benign
16	69696523	A	G	A69696523G	NFAT5	NM_138713.4(NFAT5):c.*172A>G	noncoding	Benign
16	70136319	G	T	G70136319T	PDPR	NM_017990.5(PDPR):c.1123G>T:p.Val375Leu	coding	Benign
16	70156469	T	C	T70156469C	PDPR	NM_017990.5(PDPR):c.2236-6T>C	coding	Benign
16	70253287	C	T	C70253287T	AARS1	NM_001605.3(AARS1):c.2702G>A:p.Cys901Tyr	coding	Pathogenic
16	70253397	G	A	G70253397A	AARS1	NM_001605.3(AARS1):c.2608-16C>T	noncoding	Benign
16	70254652	T	A	T70254652A	AARS1	NM_001605.3(AARS1):c.2369A>T:p.Asp790Val	coding	Benign
16	70254747	A	C	A70254747C	AARS1	NM_001605.3(AARS1):c.2287-13T>G	noncoding	Benign
16	70255822	G	C	G70255822C	AARS1	NM_001605.3(AARS1):c.2192C>G:p.Ser731Trp	coding	Pathogenic
16	70258034	T	C	T70258034C	AARS1	NM_001605.3(AARS1):c.2176A>G:p.Thr726Ala	coding	Pathogenic
16	70262361	A	G	A70262361G	AARS1	NM_001605.3(AARS1):c.1656T>C:p.Asp552=	coding	Benign/Likely_benign
16	70268131	G	T	G70268131T	AARS1	NM_001605.3(AARS1):c.1071+140C>A	noncoding	Benign
16	70268136	C	A	C70268136A	AARS1	NM_001605.3(AARS1):c.1071+135G>T	noncoding	Benign
16	70268333	C	T	C70268333T	AARS1	NM_001605.3(AARS1):c.1009G>A:p.Glu337Lys	coding	Pathogenic/Likely_pathogenic
16	70268365	C	G	C70268365G	AARS1	NM_001605.3(AARS1):c.977G>C:p.Arg326Pro	coding	Pathogenic
16	70276510	C	A	C70276510A	AARS1	NM_001605.3(AARS1):c.455G>T:p.Cys152Phe	coding	Pathogenic/Likely_pathogenic
16	70277003	T	C	T70277003C	AARS1	NM_001605.3(AARS1):c.296A>G:p.Glu99Gly	coding	Pathogenic
16	70289223	C	T	C70289223T	AARS1	NM_001605.3(AARS1):c.-22+198G>A	noncoding	Benign
16	70289377	C	A	C70289377A	AARS1	NM_001605.3(AARS1):c.-22+44G>T	noncoding	Benign
16	70289391	G	A	G70289391A	AARS1	NM_001605.3(AARS1):c.-22+30C>T	noncoding	Benign
16	70463678	C	A	C70463678A	FCSK	NM_145059.3(FCSK):c.138C>A:p.Ala46=	coding	Benign
16	70466167	T	C	T70466167C	FCSK	NM_145059.3(FCSK):c.321T>C:p.Ala107=	coding	Benign
16	70466181	C	T	C70466181T	FCSK	NM_145059.3(FCSK):c.335C>T:p.Pro112Leu	coding	Benign
16	70466227	G	C	G70466227C	FCSK	NM_145059.3(FCSK):c.381G>C:p.Leu127=	coding	Benign
16	70466972	T	C	T70466972C	FCSK	NM_145059.3(FCSK):c.484+18T>C	noncoding	Benign
16	70467411	C	T	C70467411T	FCSK	NM_145059.3(FCSK):c.522C>T:p.Ile174=	coding	Benign
16	70467487	A	G	A70467487G	FCSK	NM_145059.3(FCSK):c.582+16A>G	noncoding	Benign
16	70468868	T	A	T70468868A	FCSK	NM_145059.3(FCSK):c.683T>A:p.Phe228Tyr	coding	Benign
16	70469172	T	A	T70469172A	FCSK	NM_145059.3(FCSK):c.804T>A:p.Ile268=	coding	Benign
16	70469192	A	G	A70469192G	FCSK	NM_145059.3(FCSK):c.824A>G:p.Asn275Ser	coding	Benign
16	70470982	T	C	T70470982C	FCSK	NM_145059.3(FCSK):c.1080T>C:p.Leu360=	coding	Benign
16	70473004	T	C	T70473004C	FCSK	NM_145059.3(FCSK):c.1428T>C:p.Pro476=	coding	Benign
16	70473137	G	A	G70473137A	FCSK	NM_145059.3(FCSK):c.1561G>A:p.Ala521Thr	coding	Benign
16	70474229	C	T	C70474229T	FCSK	NM_145059.3(FCSK):c.1878C>T:p.Ser626=	coding	Benign
16	70474641	C	T	C70474641T	FCSK	NM_145059.3(FCSK):c.2102C>T:p.Pro701Leu	coding	Benign
16	70474642	G	A	G70474642A	FCSK	NM_145059.3(FCSK):c.2103G>A:p.Pro701=	coding	Benign
16	70478288	C	T	C70478288T	FCSK	NM_145059.3(FCSK):c.2658C>T:p.Asp886=	coding	Benign
16	70478331	C	T	C70478331T	FCSK	NM_145059.3(FCSK):c.2701C>T:p.Arg901Trp	coding	Benign
16	70478371	C	T	C70478371T	FCSK	NM_145059.3(FCSK):c.2741C>T:p.Thr914Met	coding	Benign
16	70478446	G	A	G70478446A	FCSK	NM_145059.3(FCSK):c.2816G>A:p.Arg939Gln	coding	Benign
16	70479407	C	T	C70479407T	FCSK	NM_145059.3(FCSK):c.3153+4C>T	noncoding	Benign
16	70479650	C	T	C70479650T	FCSK	NM_145059.3(FCSK):c.3225C>T:p.Thr1075=	coding	Benign
16	70480925	A	C	A70480925C	COG4	NM_015386.3(COG4):c.*85T>G	noncoding	Benign
16	70481697	T	G	T70481697G	COG4	NM_015386.3(COG4):c.2106+67A>C	noncoding	Benign
16	70482206	G	A	G70482206A	COG4	NM_015386.3(COG4):c.1921-31C>T	noncoding	Benign
16	70482325	C	G	C70482325G	COG4	NM_015386.3(COG4):c.1921-150G>C	noncoding	Benign
16	70482487	G	A	G70482487A	COG4	NM_015386.3(COG4):c.1920+242C>T	noncoding	Benign
16	70482575	T	C	T70482575C	COG4	NM_015386.3(COG4):c.1920+154A>G	noncoding	Benign
16	70483738	G	A	G70483738A	COG4	NM_015386.3(COG4):c.1827+115C>T	noncoding	Benign
16	70496456	A	G	A70496456G	COG4	NM_015386.3(COG4):c.1482-25T>C	noncoding	Benign
16	70496481	C	T	C70496481T	COG4	NM_015386.3(COG4):c.1482-50G>A	noncoding	Benign
16	70496644	G	A	G70496644A	COG4	NM_015386.3(COG4):c.1482-213C>T	noncoding	Benign
16	70497463	C	T	C70497463T	COG4	NM_015386.3(COG4):c.1315-76G>A	noncoding	Benign
16	70497996	C	A	C70497996A	COG4	NM_015386.3(COG4):c.1255G>T:p.Glu419Ter	coding	Pathogenic
16	70508494	C	G	C70508494G	COG4	NM_015386.3(COG4):c.1003-30G>C	noncoding	Benign
16	70509208	T	C	T70509208C	COG4	NM_015386.3(COG4):c.1002+23A>G	noncoding	Benign
16	70509350	C	A	C70509350A	COG4	NM_015386.3(COG4):c.883G>T:p.Glu295Ter	coding	Pathogenic
16	70512493	C	T	C70512493T	COG4	NM_015386.3(COG4):c.545-61G>A	noncoding	Benign
16	70514632	C	T	C70514632T	COG4	NM_015386.3(COG4):c.370-123G>A	noncoding	Benign
16	70514684	A	G	A70514684G	COG4	NM_015386.3(COG4):c.370-175T>C	noncoding	Benign
16	70519479	G	C	G70519479C	COG4	NM_015386.3(COG4):c.254+170C>G	noncoding	Benign
16	70519999	G	A	G70519999A	COG4	NM_015386.3(COG4):c.172-268C>T	noncoding	Benign
16	70523212	G	T	G70523212T	COG4	NM_015386.3(COG4):c.171+161C>A	noncoding	Benign
16	70676955	C	T	C70676955T	MTSS2	NM_138383.3(MTSS2):c.756G>A:p.Ser252=	coding	Benign
16	70688200	G	C	G70688200C	VAC14	NM_018052.5(VAC14):c.2187-110C>G	noncoding	Benign
16	70692673	G	T	G70692673T	VAC14	NM_018052.5(VAC14):c.2186+148C>A	noncoding	Benign
16	70692792	G	A	G70692792A	VAC14	NM_018052.5(VAC14):c.2186+29C>T	noncoding	Benign
16	70692811	C	T	C70692811T	VAC14	NM_018052.5(VAC14):c.2186+10G>A	noncoding	Benign
16	70692892	C	A	C70692892A	VAC14	NM_018052.5(VAC14):c.2115G>T:p.Pro705=	coding	Benign
16	70693037	G	C	G70693037C	VAC14	NM_018052.5(VAC14):c.2036-66C>G	noncoding	Benign
16	70697121	C	T	C70697121T	VAC14	NM_018052.5(VAC14):c.1955+18G>A	noncoding	Benign
16	70697399	G	A	G70697399A	VAC14	NM_018052.5(VAC14):c.1837-142C>T	noncoding	Benign
16	70697425	A	G	A70697425G	VAC14	NM_018052.5(VAC14):c.1837-168T>C	noncoding	Benign
16	70697441	T	C	T70697441C	VAC14	NM_018052.5(VAC14):c.1837-184A>G	noncoding	Benign
16	70698580	G	A	G70698580A	VAC14	NM_018052.5(VAC14):c.1836+57C>T	noncoding	Benign
16	70698589	C	T	C70698589T	VAC14	NM_018052.5(VAC14):c.1836+48G>A	noncoding	Benign
16	70698858	G	C	G70698858C	VAC14	NM_018052.5(VAC14):c.1662-47C>G	noncoding	Benign
16	70699005	C	G	C70699005G	VAC14	NM_018052.5(VAC14):c.1662-194G>C	noncoding	Benign
16	70731482	C	T	C70731482T	VAC14	NM_018052.5(VAC14):c.1661+13G>A	noncoding	Benign
16	70731636	A	G	A70731636G	VAC14	NM_018052.5(VAC14):c.1529-9T>C	noncoding	Benign
16	70762513	T	A	T70762513A	VAC14	NM_018052.5(VAC14):c.1371+27A>T	noncoding	Benign
16	70762612	G	A	G70762612A	VAC14	NM_018052.5(VAC14):c.1306-7C>T	noncoding	Benign
16	70762632	C	T	C70762632T	VAC14	NM_018052.5(VAC14):c.1306-27G>A	noncoding	Benign
16	70762911	G	A	G70762911A	VAC14	NM_018052.5(VAC14):c.1275C>T:p.Leu425=	coding	Benign
16	70763055	G	A	G70763055A	VAC14	NM_018052.5(VAC14):c.1161-30C>T	noncoding	Benign
16	70780884	G	A	G70780884A	VAC14	NM_018052.5(VAC14):c.1002C>T:p.Pro334=	coding	Benign
16	70780942	G	A	G70780942A	VAC14	NM_018052.5(VAC14):c.947-3C>T	noncoding	Benign
16	70781642	G	A	G70781642A	VAC14	NM_018052.5(VAC14):c.946+227C>T	noncoding	Benign
16	70781727	T	G	T70781727G	VAC14	NM_018052.5(VAC14):c.946+142A>C	noncoding	Benign
16	70782226	C	T	C70782226T	VAC14	NM_018052.5(VAC14):c.812-223G>A	noncoding	Benign
16	70782990	C	T	C70782990T	VAC14	NM_018052.5(VAC14):c.811+43G>A	noncoding	Benign
16	70783089	G	T	G70783089T	VAC14	NM_018052.5(VAC14):c.755C>A:p.Ser252Tyr	coding	Benign
16	70783272	T	C	T70783272C	VAC14	NM_018052.5(VAC14):c.705-133A>G	noncoding	Benign
16	70783393	C	T	C70783393T	VAC14	NM_018052.5(VAC14):c.704+52G>A	noncoding	Benign
16	70783598	C	T	C70783598T	VAC14	NM_018052.5(VAC14):c.595-44G>A	noncoding	Benign
16	70783889	G	T	G70783889T	VAC14	NM_018052.5(VAC14):c.594+224C>A	noncoding	Benign
16	70784079	G	T	G70784079T	VAC14	NM_018052.5(VAC14):c.594+34C>A	noncoding	Benign
16	70784234	G	A	G70784234A	VAC14	NM_018052.5(VAC14):c.487-14C>T	noncoding	Benign
16	70784726	G	T	G70784726T	VAC14	NM_018052.5(VAC14):c.486+50C>A	noncoding	Benign
16	70784830	G	A	G70784830A	VAC14	NM_018052.5(VAC14):c.432C>T:p.Ala144=	coding	Benign
16	70784856	A	G	A70784856G	VAC14	NM_018052.5(VAC14):c.424-18T>C	noncoding	Benign
16	70786158	G	A	G70786158A	VAC14	NM_018052.5(VAC14):c.255+57C>T	noncoding	Benign
16	70800787	C	A	C70800787A	VAC14	NM_018052.5(VAC14):c.104+10G>T	noncoding	Benign
16	70800853	G	A	G70800853A	VAC14	NM_018052.5(VAC14):c.48C>T:p.Arg16=	coding	Benign
16	70800917	A	G	A70800917G	VAC14	NM_018052.5(VAC14):c.-17T>C	noncoding	Benign
16	70801196	G	A	G70801196A	VAC14	Single_allele	noncoding	Benign
16	70801321	A	G	A70801321G	VAC14	Single_allele	noncoding	Benign
16	70829903	T	C	T70829903C	HYDIN	NM_001270974.2(HYDIN):c.13900-73A>G	noncoding	Benign
16	70896081	C	G	C70896081G	HYDIN	NM_001270974.2(HYDIN):c.9049-1G>C	coding	Pathogenic
16	70903799	T	C	T70903799C	HYDIN	NM_001270974.2(HYDIN):c.8677-2A>G	noncoding	Pathogenic
16	70908858	G	A	G70908858A	HYDIN	NM_001270974.2(HYDIN):c.8008C>T:p.Gln2670Ter	coding	Pathogenic
16	71025394	G	A	G71025394A	HYDIN	NM_001270974.2(HYDIN):c.3175C>T:p.Arg1059Ter	coding	Pathogenic
16	71129841	T	G	T71129841G	HYDIN	NM_001270974.2(HYDIN):c.1044-18A>C	noncoding	Benign
16	71568568	T	C	T71568568C	TAT	NM_000353.3(TAT):c.1224+143A>G	noncoding	Benign
16	71570009	C	A	C71570009A	TAT	NM_000353.3(TAT):c.1042-72G>T	noncoding	Benign
16	71570394	G	A	G71570394A	TAT	NM_000353.3(TAT):c.916C>T:p.Arg306Ter	coding	Pathogenic
16	71570566	A	G	A71570566G	TAT	NM_000353.3(TAT):c.912+113T>C	noncoding	Benign
16	71572310	C	T	C71572310T	TAT	NM_000353.3(TAT):c.582G>A:p.Trp194Ter	coding	Pathogenic
16	71572507	T	C	T71572507C	TAT	NM_000353.3(TAT):c.567+23A>G	noncoding	Benign
16	71572813	A	C	A71572813C	TAT	NM_000353.3(TAT):c.409-125T>G	noncoding	Benign
16	71573481	T	G	T71573481G	TAT	NM_000353.3(TAT):c.408+58A>C	noncoding	Benign
16	71734597	T	C	T71734597C	AP1G1	NM_001128.6(AP1G1):c.2367+12A>G	noncoding	Benign
16	71753871	G	A	G71753871A	AP1G1	NM_001128.6(AP1G1):c.1246C>T:p.Arg416Ter	coding	Pathogenic
16	71756152	T	C	T71756152C	AP1G1	NM_001128.6(AP1G1):c.1096A>G:p.Met366Val	coding	Pathogenic
16	71765499	G	T	G71765499T	AP1G1	NM_001128.6(AP1G1):c.728C>A:p.Pro243His	coding	Pathogenic
16	71789376	C	T	C71789376T	AP1G1	NM_001128.6(AP1G1):c.104G>A:p.Arg35Gln	coding	Pathogenic
16	71789377	G	A	G71789377A	AP1G1	NM_001128.6(AP1G1):c.103C>T:p.Arg35Trp	coding	Pathogenic
16	71789436	C	T	C71789436T	AP1G1	NM_001128.6(AP1G1):c.44G>A:p.Arg15Gln	coding	Pathogenic
16	71934024	C	T	C71934024T	PKD1L3	NM_181536.2(PKD1L3):c.4715G>A:p.Arg1572His	coding	Benign
16	72008736	A	G	A72008736G	DHODH	NM_001361.4(DHODH):c.-29A>G	noncoding	Benign/Likely_benign
16	72008926	T	G	T72008926G	DHODH	NM_001361.5(DHODH):c.21+141T>G	noncoding	Benign
16	72009061	G	A	G72009061A	DHODH	NM_001361.5(DHODH):c.21+276G>A	noncoding	Benign
16	72012312	G	T	G72012312T	DHODH	NM_001361.5(DHODH):c.234+50G>T	noncoding	Benign
16	72012369	C	G	C72012369G	DHODH	NM_001361.5(DHODH):c.234+107C>G	noncoding	Benign
16	72012406	T	G	T72012406G	DHODH	NM_001361.5(DHODH):c.234+144T>G	noncoding	Benign
16	72014181	G	T	G72014181T	DHODH	NM_001361.5(DHODH):c.235-292G>T	noncoding	Benign
16	72014433	T	C	T72014433C	DHODH	NM_001361.5(DHODH):c.235-40T>C	noncoding	Benign
16	72014733	A	G	A72014733G	DHODH	NM_001361.5(DHODH):c.434+61A>G	noncoding	Benign
16	72016986	G	C	G72016986C	DHODH	NM_001361.5(DHODH):c.435-38G>C	noncoding	Benign
16	72017005	G	A	G72017005A	DHODH	NM_001361.5(DHODH):c.435-19G>A	noncoding	Benign
16	72021085	G	T	G72021085T	DHODH	NM_001361.5(DHODH):c.518-39G>T	noncoding	Benign
16	72021437	C	A	C72021437A	DHODH	NM_001361.5(DHODH):c.705+126C>A	noncoding	Benign
16	72022858	A	G	A72022858G	DHODH	NM_001361.5(DHODH):c.820-307A>G	noncoding	Benign
16	72023383	A	G	A72023383G	DHODH	NM_001361.5(DHODH):c.973+65A>G	noncoding	Benign
16	72096204	C	G	C72096204G	DHX38	NM_014003.4(DHX38):c.47C>G:p.Thr16Ser	coding	Benign
16	72096226	T	C	T72096226C	DHX38	NM_014003.4(DHX38):c.69T>C:p.Gly23=	coding	Benign
16	72096241	G	A	G72096241A	DHX38	NM_014003.4(DHX38):c.84G>A:p.Lys28=	coding	Benign
16	72096304	C	G	C72096304G	DHX38	NM_014003.4(DHX38):c.147C>G:p.Leu49=	coding	Benign
16	72096916	C	A	C72096916A	DHX38	NM_014003.4(DHX38):c.418C>A:p.Arg140=	coding	Benign
16	72097020	C	T	C72097020T	DHX38	NM_014003.4(DHX38):c.511+11C>T	noncoding	Benign
16	72097021	A	G	A72097021G	DHX38	NM_014003.4(DHX38):c.511+12A>G	noncoding	Benign
16	72098933	G	A	G72098933A	DHX38	NM_014003.4(DHX38):c.771G>A:p.Val257=	coding	Benign
16	72099815	G	A	G72099815A	DHX38	NM_014003.4(DHX38):c.1044G>A:p.Val348=	coding	Benign
16	72099890	G	A	G72099890A	DHX38	NM_014003.4(DHX38):c.1116+3G>A	noncoding	Benign
16	72101115	T	C	T72101115C	DHX38	NM_014003.4(DHX38):c.1308T>C:p.Ala436=	coding	Benign
16	72101210	C	T	C72101210T	DHX38	NM_014003.4(DHX38):c.1386+17C>T	noncoding	Benign
16	72101492	C	A	C72101492A	DHX38	NM_014003.4(DHX38):c.1387-8C>A	noncoding	Benign
16	72103662	G	A	G72103662A	DHX38	NM_014003.4(DHX38):c.1698G>A:p.Thr566=	coding	Benign
16	72104481	C	T	C72104481T	DHX38	NM_014003.4(DHX38):c.2011-5C>T	noncoding	Benign
16	72104500	C	T	C72104500T	DHX38	NM_014003.4(DHX38):c.2025C>T:p.Arg675=	coding	Benign
16	72104542	G	A	G72104542A	DHX38	NM_014003.4(DHX38):c.2067G>A:p.Ala689=	coding	Benign
16	72105086	G	A	G72105086A	DHX38	NM_014003.4(DHX38):c.2211G>A:p.Ser737=	coding	Benign
16	72105273	G	A	G72105273A	DHX38	NM_014003.4(DHX38):c.2304G>A:p.Glu768=	coding	Benign
16	72105285	C	A	C72105285A	DHX38	NM_014003.4(DHX38):c.2316C>A:p.Ala772=	coding	Benign
16	72105497	T	C	T72105497C	DHX38	NM_014003.4(DHX38):c.2380-20T>C	noncoding	Benign
16	72105638	T	C	T72105638C	DHX38	NM_014003.4(DHX38):c.2487+14T>C	noncoding	Benign
16	72107463	G	A	G72107463A	DHX38	NM_014003.4(DHX38):c.2724G>A:p.Gln908=	coding	Benign
16	72107562	G	A	G72107562A	DHX38	NM_014003.4(DHX38):c.2809+14G>A	noncoding	Benign
16	72107782	A	G	A72107782G	DHX38	NM_014003.4(DHX38):c.2947A>G:p.Ile983Val	coding	Benign
16	72108212	T	G	T72108212G	DHX38	NM_014003.4(DHX38):c.2965-15T>G	noncoding	Benign
16	72108459	G	A	G72108459A	DHX38	NM_014003.4(DHX38):c.3121-14G>A	noncoding	Benign
16	72109515	G	A	G72109515A	DHX38	NM_014003.4(DHX38):c.3477+5G>A	noncoding	Benign
16	72111015	C	T	C72111015T	DHX38	NM_014003.4(DHX38):c.3537C>T:p.Ala1179=	coding	Benign
16	72122943	T	G	T72122943G	PMFBP1	NM_031293.3(PMFBP1):c.2739A>C:p.Lys913Asn	coding	Benign
16	72129067	G	T	G72129067T	PMFBP1	NM_031293.3(PMFBP1):c.1949C>A:p.Thr650Lys	coding	Benign
16	72794232	G	C	G72794232C	ZFHX3	NM_006885.4(ZFHX3):c.8450C>G:p.Ser2817Cys	coding	Benign
16	72795731	A	G	A72795731G	ZFHX3	NM_006885.4(ZFHX3):c.6951T>C:p.Asn2317=	coding	Benign
16	72796353	A	G	A72796353G	ZFHX3	NM_006885.4(ZFHX3):c.6329T>C:p.Leu2110Ser	coding	Benign
16	72798236	T	A	T72798236A	ZFHX3	NM_006885.4(ZFHX3):c.4446A>T:p.Ala1482=	coding	Benign
16	72957761	C	G	C72957761G	ZFHX3	NM_006885.4(ZFHX3):c.2385G>C:p.Pro795=	coding	Benign
16	72958322	G	A	G72958322A	ZFHX3	NM_006885.4(ZFHX3):c.1824C>T:p.Ser608=	coding	Benign
16	74503693	C	T	C74503693T	GLG1	NM_001145667.2(GLG1):c.612G>A:p.Leu204=	coding	Benign
16	74628699	C	T	C74628699T	RFWD3	NM_018124.4(RFWD3):c.1755-33G>A	noncoding	Benign
16	74630912	A	T	A74630912T	RFWD3	NM_018124.4(RFWD3):c.1623T>A:p.Pro541=	coding	Benign
16	74636560	C	T	C74636560T	RFWD3	NM_018124.4(RFWD3):c.1212G>A:p.Thr404=	coding	Benign
16	74637968	G	A	G74637968A	RFWD3	NM_018124.4(RFWD3):c.1082C>T:p.Ser361Phe	coding	Benign
16	74661181	G	T	G74661181T	RFWD3	NM_018124.4(RFWD3):c.269C>A:p.Thr90Asn	coding	Benign
16	74682660	C	T	C74682660T	MLKL	NM_152649.4(MLKL):c.947G>A:p.Gly316Asp	coding	Pathogenic
16	74714447	T	C	T74714447C	FA2H	NM_024306.5(FA2H):c.1040-178A>G	noncoding	Benign
16	74716244	C	A	C74716244A	FA2H	NM_024306.5(FA2H):c.1039+103G>T	noncoding	Benign
16	74716658	A	G	A74716658G	FA2H	NM_024306.5(FA2H):c.787-59T>C	noncoding	Benign
16	74716757	C	T	C74716757T	FA2H	NM_024306.5(FA2H):c.787-158G>A	noncoding	Benign
16	74716788	T	C	T74716788C	FA2H	NM_024306.5(FA2H):c.787-189A>G	noncoding	Benign
16	74718943	C	G	C74718943G	FA2H	NM_024306.5(FA2H):c.786+45G>C	noncoding	Benign
16	74719003	G	A	G74719003A	FA2H	NM_024306.5(FA2H):c.771C>T:p.His257=	coding	Benign/Likely_benign
16	74719100	A	G	A74719100G	FA2H	NM_024306.5(FA2H):c.674T>C:p.Leu225Pro	coding	Pathogenic
16	74719154	G	A	G74719154A	FA2H	NM_024306.5(FA2H):c.620C>T:p.Thr207Met	coding	Pathogenic/Likely_pathogenic
16	74726423	T	C	T74726423C	FA2H	NM_024306.5(FA2H):c.507-92A>G	noncoding	Benign
16	74726969	C	A	C74726969A	FA2H	NM_024306.5(FA2H):c.506+275G>T	noncoding	Benign
16	74727243	C	G	C74727243G	FA2H	NM_024306.5(FA2H):c.506+1G>C	noncoding	Pathogenic
16	74727254	T	A	T74727254A	FA2H	NM_024306.5(FA2H):c.496A>T:p.Lys166Ter	coding	Pathogenic
16	74740006	C	A	C74740006A	FA2H	NM_024306.5(FA2H):c.363+17G>T	noncoding	Benign
16	74774516	G	C	G74774516C	FA2H	NM_024306.5(FA2H):c.240C>G:p.Tyr80Ter	coding	Pathogenic
16	74774566	C	A	C74774566A	FA2H	NM_024306.5(FA2H):c.190G>T:p.Gly64Trp	coding	Pathogenic
16	74774625	G	T	G74774625T	FA2H	NM_024306.5(FA2H):c.131C>A:p.Pro44Gln	coding	Pathogenic/Likely_pathogenic
16	74774754	A	G	A74774754G	FA2H	NM_024306.5(FA2H):c.2T>C:p.Met1Thr	coding	Pathogenic
16	74774755	T	C	T74774755C	FA2H	NM_024306.5(FA2H):c.1A>G:p.Met1Val	coding	Pathogenic
16	74774853	G	A	G74774853A	FA2H	Single_allele	noncoding	Benign
16	74774921	C	T	C74774921T	FA2H	Single_allele	noncoding	Benign
16	74774996	G	A	G74774996A	FA2H	Single_allele	noncoding	Benign
16	74998834	G	C	G74998834C	ZNRF1	Single_allele	noncoding	Benign
16	74999399	C	T	C74999399T	ZNRF1	NM_032268.5(ZNRF1):c.-273C>T	noncoding	Benign
16	75000235	A	G	A75000235G	ZNRF1	NM_032268.5(ZNRF1):c.424+140A>G	noncoding	Benign
16	75000316	C	A	C75000316A	ZNRF1	NM_032268.5(ZNRF1):c.424+221C>A	noncoding	Benign
16	75093363	C	T	C75093363T	ZNRF1	NM_032268.5(ZNRF1):c.425-209C>T	noncoding	Benign
16	75105029	A	G	A75105029G	ZNRF1	NM_032268.5(ZNRF1):c.626+140A>G	noncoding	Benign
16	75113582	G	A	G75113582A	LDHD	NM_194436.3(LDHD):c.1039C>T:p.Arg347Trp	coding	Pathogenic
16	75114533	G	A	G75114533A	LDHD	NM_194436.3(LDHD):c.622C>T:p.His208Tyr	coding	Benign
16	75478823	C	T	C75478823T	CHST6	NM_021615.5(CHST6):c.1006G>A:p.Ala336Thr	coding	Benign
16	75539855	C	T	C75539855T	TMEM231	NM_001077418.3(TMEM231):c.*139G>A	noncoding	Benign
16	75539856	G	A	G75539856A	TMEM231	NM_001077418.3(TMEM231):c.*138C>T	noncoding	Benign
16	75541669	G	C	G75541669C	TMEM231	NM_001077418.3(TMEM231):c.665-214C>G	noncoding	Benign
16	75541794	G	A	G75541794A	TMEM231	NM_001077418.3(TMEM231):c.665-339C>T	noncoding	Benign
16	75542641	C	T	C75542641T	TMEM231	NM_001077418.3(TMEM231):c.625G>A:p.Asp209Asn	coding	Pathogenic/Likely_pathogenic
16	75545351	C	T	C75545351T	TMEM231	NM_001077418.3(TMEM231):c.582+1G>A	noncoding	Pathogenic
16	75545399	G	A	G75545399A	TMEM231	NM_001077418.3(TMEM231):c.535C>T:p.Gln179Ter	coding	Pathogenic
16	75545529	G	A	G75545529A	TMEM231	NM_001077418.3(TMEM231):c.439-34C>T	noncoding	Benign
16	75545572	T	G	T75545572G	TMEM231	NM_001077418.3(TMEM231):c.439-77A>C	noncoding	Benign
16	75545948	C	T	C75545948T	TMEM231	NM_001077418.3(TMEM231):c.316G>A:p.Glu106Lys	coding	Pathogenic
16	75555515	C	A	C75555515A	TMEM231	NM_001077418.3(TMEM231):c.309+289G>T	noncoding	Benign
16	75555692	G	A	G75555692A	TMEM231	NM_001077418.3(TMEM231):c.309+112C>T	noncoding	Benign
16	75555976	G	C	G75555976C	TMEM231	NM_001077418.3(TMEM231):c.140-3C>G	coding	Pathogenic
16	75556086	C	T	C75556086T	TMEM231	NM_001077418.3(TMEM231):c.124G>A:p.Ala42Thr	coding	Pathogenic
16	75556206	C	T	C75556206T	TMEM231	NM_001077418.3(TMEM231):c.4G>A:p.Ala2Thr	coding	Pathogenic
16	75627907	G	A	G75627907A	KARS1	NM_005548.3(KARS1):c.1782C>T:p.Gly594=	coding	Benign
16	75627987	G	A	G75627987A	KARS1	NM_005548.3(KARS1):c.1702C>T:p.Leu568Phe	coding	Pathogenic
16	75627995	T	G	T75627995G	KARS1	NM_005548.3(KARS1):c.1696-2A>C	noncoding	Pathogenic
16	75628322	C	T	C75628322T	KARS1	NM_005548.3(KARS1):c.1695+247G>A	noncoding	Benign
16	75628588	G	A	G75628588A	KARS1	NM_005548.3(KARS1):c.1676C>T:p.Thr559Met	coding	Pathogenic/Likely_pathogenic
16	75628691	C	T	C75628691T	KARS1	NM_005548.3(KARS1):c.1573G>A:p.Glu525Lys	coding	Pathogenic
16	75628985	C	T	C75628985T	KARS1	NM_005548.3(KARS1):c.1552-273G>A	noncoding	Benign
16	75629027	T	G	T75629027G	KARS1	NM_005548.3(KARS1):c.1552-315A>C	noncoding	Benign
16	75629208	G	A	G75629208A	KARS1	NM_005548.3(KARS1):c.1551+207C>T	noncoding	Benign
16	75629453	G	A	G75629453A	KARS1	NM_005548.3(KARS1):c.1513C>T:p.Pro505Ser	coding	Pathogenic
16	75630170	G	C	G75630170C	KARS1	NM_005548.3(KARS1):c.1424+253C>G	noncoding	Benign
16	75630999	C	T	C75630999T	KARS1	NM_005548.3(KARS1):c.1338+169G>A	noncoding	Benign
16	75631107	G	A	G75631107A	KARS1	NM_005548.3(KARS1):c.1338+61C>T	noncoding	Benign
16	75631121	A	G	A75631121G	KARS1	NM_005548.3(KARS1):c.1338+47T>C	noncoding	Benign
16	75631194	G	A	G75631194A	KARS1	NM_005548.3(KARS1):c.1312C>T:p.Arg438Trp	coding	Pathogenic
16	75631603	C	T	C75631603T	KARS1	NM_005548.3(KARS1):c.1079-14G>A	noncoding	Benign/Likely_benign
16	75633893	C	T	C75633893T	KARS1	NM_005548.3(KARS1):c.915+280G>A	noncoding	Benign
16	75634056	C	T	C75634056T	KARS1	NM_005548.3(KARS1):c.915+117G>A	noncoding	Benign
16	75634117	G	C	G75634117C	KARS1	NM_005548.3(KARS1):c.915+56C>G	noncoding	Benign
16	75634266	G	C	G75634266C	KARS1	NM_005548.3(KARS1):c.822C>G:p.Ile274Met	coding	Benign
16	75634427	G	A	G75634427A	KARS1	NM_005548.3(KARS1):c.796-135C>T	noncoding	Benign
16	75635368	G	A	G75635368A	KARS1	NM_005548.3(KARS1):c.795+312C>T	noncoding	Benign
16	75635679	C	T	C75635679T	KARS1	NM_005548.3(KARS1):c.795+1G>A	noncoding	Pathogenic
16	75636230	C	A	C75636230A	KARS1	NM_005548.3(KARS1):c.483-132G>T	noncoding	Benign
16	75640055	G	A	G75640055A	KARS1	NM_005548.3(KARS1):c.388+129C>T	noncoding	Benign
16	75640578	C	T	C75640578T	KARS1	NM_005548.3(KARS1):c.223-229G>A	noncoding	Benign
16	75641701	C	G	C75641701G	KARS1	NM_005548.3(KARS1):c.85G>C:p.Ala29Pro	coding	Pathogenic/Likely_pathogenic
16	75641742	C	T	C75641742T	KARS1	NM_005548.3(KARS1):c.63-19G>A	noncoding	Benign/Likely_benign
16	75647370	C	T	C75647370T	KARS1	NM_005548.3(KARS1):c.62+208G>A	noncoding	Benign
16	75647705	G	A	G75647705A	TERF2IP	Single_allele	noncoding	Benign
16	75647801	G	T	G75647801T	TERF2IP	NM_018975.4(TERF2IP):c.-82G>T	noncoding	Benign
16	75647845	C	G	C75647845G	TERF2IP	NM_018975.4(TERF2IP):c.-38C>G	noncoding	Benign
16	75647858	C	A	C75647858A	KARS1;TERF2IP	NM_018975.4(TERF2IP):c.-25C>A	noncoding	Benign
16	75654436	C	T	C75654436T	TERF2IP	NM_018975.4(TERF2IP):c.795+39C>T	noncoding	Benign
16	75654494	G	C	G75654494C	TERF2IP	NM_018975.4(TERF2IP):c.795+97G>C	noncoding	Benign
16	75655960	C	T	C75655960T	TERF2IP	NM_018975.4(TERF2IP):c.796-247C>T	noncoding	Benign
16	75656002	C	T	C75656002T	TERF2IP	NM_018975.4(TERF2IP):c.796-205C>T	noncoding	Benign
16	75656166	C	G	C75656166G	TERF2IP	NM_018975.4(TERF2IP):c.796-41C>G	noncoding	Benign
16	75656381	A	G	A75656381G	TERF2IP	NM_018975.4(TERF2IP):c.970A>G:p.Lys324Glu	coding	Benign
16	76461945	C	A	C76461945A	CNTNAP4	NM_033401.5(CNTNAP4):c.1334-11C>A	noncoding	Benign
16	77284088	T	A	T77284088A	ADAMTS18	NM_199355.4(ADAMTS18):c.3551-17A>T	noncoding	Benign
16	77289338	C	G	C77289338G	ADAMTS18	NM_199355.4(ADAMTS18):c.3476G>C:p.Ser1159Thr	coding	Benign
16	77289360	G	A	G77289360A	ADAMTS18	NM_199355.4(ADAMTS18):c.3454C>T:p.Gln1152Ter	coding	Pathogenic
16	77289378	G	T	G77289378T	ADAMTS18	NM_199355.4(ADAMTS18):c.3436C>A:p.Arg1146=	coding	Benign
16	77291288	C	T	C77291288T	ADAMTS18	NM_199355.4(ADAMTS18):c.3380G>A:p.Trp1127Ter	coding	Pathogenic
16	77291334	G	A	G77291334A	ADAMTS18	NM_199355.4(ADAMTS18):c.3334C>T:p.Arg1112Ter	coding	Pathogenic
16	77291424	T	A	T77291424A	ADAMTS18	NM_199355.4(ADAMTS18):c.3244A>T:p.Lys1082Ter	coding	Pathogenic
16	77291428	G	T	G77291428T	ADAMTS18	NM_199355.4(ADAMTS18):c.3240C>A:p.Ser1080Arg	coding	Benign
16	77291494	G	C	G77291494C	ADAMTS18	NM_199355.4(ADAMTS18):c.3190-16C>G	noncoding	Benign
16	77293093	C	T	C77293093T	ADAMTS18	NM_199355.4(ADAMTS18):c.3172G>A:p.Ala1058Thr	coding	Benign
16	77293121	G	A	G77293121A	ADAMTS18	NM_199355.4(ADAMTS18):c.3144C>T:p.Cys1048=	coding	Benign
16	77293126	G	A	G77293126A	ADAMTS18	NM_199355.4(ADAMTS18):c.3139C>T:p.Arg1047Ter	coding	Pathogenic
16	77293225	G	A	G77293225A	ADAMTS18	NM_199355.4(ADAMTS18):c.3040C>T:p.Arg1014Cys	coding	Benign
16	77293240	G	A	G77293240A	ADAMTS18	NM_199355.4(ADAMTS18):c.3025C>T:p.Arg1009Ter	coding	Pathogenic
16	77294998	C	T	C77294998T	ADAMTS18	NM_199355.4(ADAMTS18):c.2931G>A:p.Val977=	coding	Benign
16	77295093	C	A	C77295093A	ADAMTS18	NM_199355.4(ADAMTS18):c.2836G>T:p.Ala946Ser	coding	Benign
16	77300401	G	A	G77300401A	ADAMTS18	NM_199355.4(ADAMTS18):c.2536C>T:p.Leu846=	coding	Benign
16	77300424	A	C	A77300424C	ADAMTS18	NM_199355.4(ADAMTS18):c.2533-20T>G	noncoding	Benign
16	77319901	C	T	C77319901T	ADAMTS18	NM_199355.4(ADAMTS18):c.2480G>A:p.Arg827His	coding	Benign
16	77319905	T	G	T77319905G	ADAMTS18	NM_199355.4(ADAMTS18):c.2476A>C:p.Asn826His	coding	Benign
16	77319921	T	C	T77319921C	ADAMTS18	NM_199355.4(ADAMTS18):c.2460A>G:p.Glu820=	coding	Benign
16	77320007	G	A	G77320007A	ADAMTS18	NM_199355.4(ADAMTS18):c.2374C>T:p.Arg792Ter	coding	Pathogenic
16	77320076	G	T	G77320076T	ADAMTS18	NM_199355.4(ADAMTS18):c.2305C>A:p.Leu769Ile	coding	Benign
16	77320083	C	T	C77320083T	ADAMTS18	NM_199355.4(ADAMTS18):c.2298G>A:p.Pro766=	coding	Benign
16	77322325	C	T	C77322325T	ADAMTS18	NM_199355.4(ADAMTS18):c.2163+11G>A	noncoding	Benign
16	77325900	C	T	C77325900T	ADAMTS18	NM_199355.4(ADAMTS18):c.1998G>A:p.Trp666Ter	coding	Pathogenic
16	77326022	A	T	A77326022T	ADAMTS18	NM_199355.4(ADAMTS18):c.1876T>A:p.Leu626Ile	coding	Benign
16	77341684	C	G	C77341684G	ADAMTS18	NM_199355.4(ADAMTS18):c.1710+20G>C	noncoding	Benign
16	77341819	G	A	G77341819A	ADAMTS18	NM_199355.4(ADAMTS18):c.1615-20C>T	noncoding	Benign
16	77353826	C	T	C77353826T	ADAMTS18	NM_199355.4(ADAMTS18):c.1521G>A:p.Pro507=	coding	Benign
16	77353883	T	G	T77353883G	ADAMTS18	NM_199355.4(ADAMTS18):c.1464A>C:p.Thr488=	coding	Benign
16	77356059	A	G	A77356059G	ADAMTS18	NM_199355.4(ADAMTS18):c.1341T>C:p.Asp447=	coding	Benign
16	77359310	G	C	G77359310C	ADAMTS18	NM_199355.4(ADAMTS18):c.1322+8C>G	noncoding	Benign
16	77359388	G	A	G77359388A	ADAMTS18	NM_199355.4(ADAMTS18):c.1252C>T:p.Arg418Ter	coding	Pathogenic
16	77359433	G	C	G77359433C	ADAMTS18	NM_199355.4(ADAMTS18):c.1217-10C>G	noncoding	Benign
16	77363810	G	A	G77363810A	ADAMTS18	NM_199355.4(ADAMTS18):c.1048C>T:p.Gln350Ter	coding	Pathogenic
16	77364184	T	C	T77364184C	ADAMTS18	NM_199355.4(ADAMTS18):c.972+4A>G	noncoding	Benign
16	77364203	G	C	G77364203C	ADAMTS18	NM_199355.4(ADAMTS18):c.957C>G:p.Leu319=	coding	Benign
16	77364326	G	A	G77364326A	ADAMTS18	NM_199355.4(ADAMTS18):c.834C>T:p.Ser278=	coding	Benign
16	77367453	G	A	G77367453A	ADAMTS18	NM_199355.4(ADAMTS18):c.766C>T:p.Arg256Ter	coding	Pathogenic
16	77367483	G	A	G77367483A	ADAMTS18	NM_199355.4(ADAMTS18):c.736C>T:p.Arg246Ter	coding	Pathogenic
16	77367619	G	A	G77367619A	ADAMTS18	NM_199355.4(ADAMTS18):c.600C>T:p.His200=	coding	Benign
16	77367646	G	A	G77367646A	ADAMTS18	NM_199355.4(ADAMTS18):c.573C>T:p.Tyr191=	coding	Benign
16	77367702	T	C	T77367702C	ADAMTS18	NM_199355.4(ADAMTS18):c.517A>G:p.Lys173Glu	coding	Benign
16	77431319	G	A	G77431319A	ADAMTS18	NM_199355.4(ADAMTS18):c.471C>T:p.Val157=	coding	Benign
16	77431520	C	T	C77431520T	ADAMTS18	NM_199355.4(ADAMTS18):c.270G>A:p.Ala90=	coding	Benign
16	77431560	G	C	G77431560C	ADAMTS18	NM_199355.4(ADAMTS18):c.230C>G:p.Ser77Ter	coding	Pathogenic
16	77434500	G	A	G77434500A	ADAMTS18	NM_199355.4(ADAMTS18):c.96C>T:p.Leu32=	coding	Benign
16	77434661	G	C	G77434661C	ADAMTS18	NM_199355.4(ADAMTS18):c.35C>G:p.Pro12Arg	coding	Benign/Likely_benign
16	78099226	T	C	T78099226C	WWOX	Single_allele	noncoding	Benign
16	78099903	G	A	G78099903A	WWOX	NM_016373.4(WWOX):c.107+18G>A	coding	Benign/Likely_benign
16	78108312	T	C	T78108312C	WWOX	NM_016373.4(WWOX):c.108-111T>C	noncoding	Benign
16	78108347	A	G	A78108347G	WWOX	NM_016373.4(WWOX):c.108-76A>G	noncoding	Benign
16	78108442	C	T	C78108442T	WWOX	NM_016373.4(WWOX):c.127C>T:p.Gln43Ter	coding	Pathogenic
16	78108488	G	C	G78108488C	WWOX	NM_016373.4(WWOX):c.172+1G>C	coding	Pathogenic
16	78109710	C	T	C78109710T	WWOX	NM_016373.4(WWOX):c.173-68C>T	noncoding	Benign
16	78114897	T	G	T78114897G	WWOX	NM_016373.4(WWOX):c.231-79T>G	noncoding	Benign
16	78115066	C	G	C78115066G	WWOX	NM_016373.4(WWOX):c.321C>G:p.Tyr107Ter	coding	Pathogenic
16	78115155	G	C	G78115155C	WWOX	NM_016373.4(WWOX):c.409+1G>C	coding	Pathogenic/Likely_pathogenic
16	78115155	G	T	G78115155T	WWOX	NM_016373.4(WWOX):c.409+1G>T	coding	Pathogenic
16	78164241	G	T	G78164241T	WWOX	NM_016373.4(WWOX):c.468G>T:p.Arg156Ser	coding	Benign/Likely_benign
16	78278592	G	T	G78278592T	WWOX	NM_016373.4(WWOX):c.517-108268G>T	noncoding	Benign
16	78278630	A	G	A78278630G	WWOX	NM_016373.4(WWOX):c.517-108230A>G	coding	Benign/Likely_benign
16	78278840	G	A	G78278840A	WWOX	NM_016373.4(WWOX):c.517-108020G>A	noncoding	Benign
16	78386702	C	G	C78386702G	WWOX	NM_016373.4(WWOX):c.517-158C>G	noncoding	Benign
16	78386843	A	G	A78386843G	WWOX	NM_016373.4(WWOX):c.517-17A>G	noncoding	Benign/Likely_benign
16	78386859	G	T	G78386859T	WWOX	NM_016373.4(WWOX):c.517-1G>T	noncoding	Pathogenic
16	78424567	A	T	A78424567T	WWOX	NM_016373.4(WWOX):c.606-303A>T	noncoding	Benign
16	78424802	G	A	G78424802A	WWOX	NM_016373.4(WWOX):c.606-68G>A	noncoding	Benign
16	78424933	T	C	T78424933C	WWOX	NM_016373.4(WWOX):c.669T>C:p.Asp223=	coding	Benign/Likely_benign
16	78424994	C	T	C78424994T	WWOX	NM_016373.4(WWOX):c.730C>T:p.Gln244Ter	coding	Pathogenic
16	78425123	C	G	C78425123G	WWOX	NM_016373.4(WWOX):c.791+68C>G	noncoding	Benign
16	78432752	G	C	G78432752C	WWOX	NM_016373.4(WWOX):c.1056G>C:p.Met352Ile	coding	Pathogenic
16	79211361	T	C	T79211361C	WWOX	NM_016373.4(WWOX):c.1057-247T>C	noncoding	Benign
16	79211608	C	T	C79211608T	WWOX	NM_016373.4(WWOX):c.1057C>T:p.Gln353Ter	coding	Pathogenic
16	79211722	G	T	G79211722T	WWOX	NM_016373.4(WWOX):c.1171G>T:p.Glu391Ter	coding	Pathogenic
16	79211868	C	T	C79211868T	WWOX	NM_016373.4(WWOX):c.*72C>T	noncoding	Benign
16	79211889	A	G	A79211889G	WWOX	NM_016373.4(WWOX):c.*93A>G	noncoding	Benign
16	79211923	G	T	G79211923T	WWOX	NM_016373.4(WWOX):c.*127G>T	noncoding	Benign
16	79212007	G	A	G79212007A	WWOX	NM_016373.4(WWOX):c.*211G>A	noncoding	Benign
16	79212033	G	C	G79212033C	WWOX	NM_016373.4(WWOX):c.*237G>C	noncoding	Benign
16	79212059	C	G	C79212059G	WWOX	NM_016373.4(WWOX):c.*263C>G	noncoding	Benign
16	79212064	T	C	T79212064C	WWOX	NM_016373.4(WWOX):c.*268T>C	noncoding	Benign
16	79594275	C	G	C79594275G	MAF	NM_005360.5(MAF):c.*185G>C	noncoding	Benign
16	79594284	T	C	T79594284C	MAF	NM_005360.5(MAF):c.*176A>G	noncoding	Benign
16	79594493	C	T	C79594493T	MAF	NM_005360.5(MAF):c.1179G>A:p.Gln393=	coding	Benign
16	79598568	G	A	G79598568A	MAF	NM_005360.5(MAF):c.1118+217C>T	coding	Benign
16	79599021	C	T	C79599021T	MAF	NM_005360.5(MAF):c.882G>A:p.Arg294=	coding	Benign/Likely_benign
16	79599201	T	G	T79599201G	MAF	NM_005360.5(MAF):c.702A>C:p.Gly234=	coding	Benign/Likely_benign
16	79599447	G	A	G79599447A	MAF	NM_005360.5(MAF):c.456C>T:p.Gly152=	coding	Benign
16	79600054	G	A	G79600054A	MAF	NM_005360.5(MAF):c.-152C>T	noncoding	Benign
16	79600682	A	C	A79600682C	MAF	NM_005360.5(MAF):c.-780T>G	noncoding	Benign
16	79601052	T	C	T79601052C	MAF	Single_allele	noncoding	Benign
16	81082702	G	C	G81082702C	GCSH	NM_004483.5(GCSH):c.*164C>G	noncoding	Benign
16	81082778	T	G	T81082778G	GCSH	NM_004483.5(GCSH):c.*88A>C	noncoding	Benign
16	81084301	A	C	A81084301C	GCSH	NM_004483.5(GCSH):c.424+162T>G	noncoding	Benign
16	81084661	C	T	C81084661T	GCSH	NM_004483.5(GCSH):c.293-67G>A	noncoding	Benign
16	81084684	C	T	C81084684T	GCSH	NM_004483.5(GCSH):c.293-90G>A	noncoding	Benign
16	81087540	T	C	T81087540C	GCSH	NM_004483.5(GCSH):c.292+61A>G	noncoding	Benign
16	81087578	T	C	T81087578C	GCSH	NM_004483.5(GCSH):c.292+23A>G	noncoding	Benign
16	81087748	C	T	C81087748T	GCSH	NM_004483.5(GCSH):c.229-84G>A	noncoding	Benign
16	81087783	G	A	G81087783A	GCSH	NM_004483.5(GCSH):c.229-119C>T	noncoding	Benign
16	81090547	A	G	A81090547G	GCSH	NM_004483.5(GCSH):c.228+54T>C	noncoding	Benign
16	81090670	G	A	G81090670A	GCSH	NM_004483.5(GCSH):c.159C>T:p.Phe53=	coding	Benign
16	81090808	G	A	G81090808A	GCSH	NM_004483.5(GCSH):c.149-128C>T	noncoding	Benign
16	81095985	A	G	A81095985G	GCSH	NM_004483.5(GCSH):c.148+146T>C	noncoding	Benign
16	81096044	G	A	G81096044A	GCSH	NM_004483.5(GCSH):c.148+87C>T	noncoding	Benign
16	81096116	G	A	G81096116A	GCSH	NM_004483.5(GCSH):c.148+15C>T	noncoding	Benign
16	81096195	C	T	C81096195T	GCSH	NM_004483.5(GCSH):c.84G>A:p.Pro28=	coding	Benign/Likely_benign
16	81096217	G	A	G81096217A	GCSH	NM_004483.5(GCSH):c.62C>T:p.Ser21Leu	coding	Benign
16	81096246	G	A	G81096246A	GCSH	NM_004483.5(GCSH):c.33C>T:p.Ala11=	coding	Benign/Likely_benign
16	81096315	G	A	G81096315A	GCSH	NM_004483.5(GCSH):c.-37C>T	noncoding	Benign
16	81096553	G	A	G81096553A	GCSH	Single_allele	noncoding	Benign
16	81245515	T	C	T81245515C	BCO1	NM_017429.3(BCO1):c.105T>C:p.Asn35=	coding	Benign
16	81245773	C	G	C81245773G	BCO1	NM_017429.3(BCO1):c.193+170C>G	noncoding	Benign
16	81245829	A	G	A81245829G	BCO1	NM_017429.3(BCO1):c.193+226A>G	noncoding	Benign
16	81245877	T	C	T81245877C	BCO1	NM_017429.3(BCO1):c.193+274T>C	noncoding	Benign
16	81259602	A	G	A81259602G	BCO1	NM_017429.3(BCO1):c.194-74A>G	noncoding	Benign
16	81260064	G	A	G81260064A	BCO1	NM_017429.3(BCO1):c.323+259G>A	noncoding	Benign
16	81262175	C	A	C81262175A	BCO1	NM_017429.3(BCO1):c.363C>A:p.Thr121=	coding	Benign
16	81262297	T	C	T81262297C	BCO1	NM_017429.3(BCO1):c.471+14T>C	noncoding	Benign
16	81264428	A	G	A81264428G	BCO1	NM_017429.3(BCO1):c.472-212A>G	noncoding	Benign
16	81264932	C	G	C81264932G	BCO1	NM_017429.3(BCO1):c.619+145C>G	noncoding	Benign
16	81267855	G	C	G81267855C	BCO1	NM_017429.3(BCO1):c.620-53G>C	noncoding	Benign
16	81267966	A	G	A81267966G	BCO1	NM_017429.3(BCO1):c.678A>G:p.Pro226=	coding	Benign
16	81268089	A	T	A81268089T	BCO1	NM_017429.3(BCO1):c.801A>T:p.Arg267Ser	coding	Benign
16	81268404	A	G	A81268404G	BCO1	NM_017429.3(BCO1):c.843+273A>G	noncoding	Benign
16	81270154	T	C	T81270154C	BCO1	NM_017429.3(BCO1):c.844-5T>C	noncoding	Benign
16	81270464	C	T	C81270464T	BCO1	NM_017429.3(BCO1):c.1101+48C>T	noncoding	Benign
16	81280776	T	C	T81280776C	BCO1	NM_017429.3(BCO1):c.1102-81T>C	noncoding	Benign
16	81280891	C	T	C81280891T	BCO1	NM_017429.3(BCO1):c.1136C>T:p.Ala379Val	coding	Benign
16	81285277	A	G	A81285277G	BCO1	NM_017429.3(BCO1):c.1208-263A>G	noncoding	Benign
16	81285833	G	A	G81285833A	BCO1	NM_017429.3(BCO1):c.1302+199G>A	noncoding	Benign
16	81287225	A	G	A81287225G	BCO1	NM_017429.3(BCO1):c.1303-70A>G	noncoding	Benign
16	81287282	G	A	G81287282A	BCO1	NM_017429.3(BCO1):c.1303-13G>A	noncoding	Benign
16	81287693	T	G	T81287693G	BCO1	NM_017429.3(BCO1):c.1414+287T>G	noncoding	Benign
16	81315272	G	T	G81315272T	GAN	NM_022041.4(GAN):c.159G>T:p.Pro53=	coding	Benign/Likely_benign
16	81351436	A	G	A81351436G	GAN	NM_022041.4(GAN):c.168-147A>G	noncoding	Benign
16	81351517	G	A	G81351517A	GAN	NM_022041.4(GAN):c.168-66G>A	noncoding	Benign
16	81354385	T	C	T81354385C	GAN	NM_022041.4(GAN):c.283-20T>C	noncoding	Benign/Likely_benign
16	81354429	C	T	C81354429T	GAN	NM_022041.4(GAN):c.307C>T:p.Gln103Ter	coding	Pathogenic
16	81354535	G	A	G81354535A	GAN	NM_022041.4(GAN):c.413G>A:p.Arg138His	coding	Pathogenic
16	81354606	C	T	C81354606T	GAN	NM_022041.4(GAN):c.484C>T:p.Arg162Ter	coding	Pathogenic
16	81354624	G	T	G81354624T	GAN	NM_022041.4(GAN):c.502G>T:p.Glu168Ter	coding	Pathogenic
16	81354774	A	G	A81354774G	GAN	NM_022041.4(GAN):c.633+19A>G	noncoding	Benign/Likely_benign
16	81356734	T	C	T81356734C	GAN	NM_022041.4(GAN):c.634-51T>C	noncoding	Benign
16	81356770	T	C	T81356770C	GAN	NM_022041.4(GAN):c.634-15T>C	noncoding	Benign/Likely_benign
16	81358079	G	A	G81358079A	GAN	NM_022041.4(GAN):c.973+148G>A	noncoding	Benign
16	81362662	C	T	C81362662T	GAN	NM_022041.4(GAN):c.1086+51C>T	noncoding	Benign
16	81365128	G	A	G81365128A	GAN	NM_022041.4(GAN):c.1373+18G>A	noncoding	Benign
16	81365461	C	A	C81365461A	GAN	NM_022041.4(GAN):c.1485C>A:p.Tyr495Ter	coding	Pathogenic
16	81365489	A	G	A81365489G	GAN	NM_022041.4(GAN):c.1502+11A>G	noncoding	Benign/Likely_benign
16	81376899	A	G	A81376899G	GAN	NM_022041.4(GAN):c.1503-320A>G	noncoding	Benign
16	81785881	C	G	C81785881G	PLCG2	NM_002661.5(PLCG2):c.-47-62C>G	noncoding	Benign
16	81786215	G	A	G81786215A	PLCG2	NM_002661.5(PLCG2):c.193+33G>A	noncoding	Benign
16	81854215	C	T	C81854215T	PLCG2	NM_002661.5(PLCG2):c.194-229C>T	noncoding	Benign
16	81854254	C	G	C81854254G	PLCG2	NM_002661.5(PLCG2):c.194-190C>G	noncoding	Benign
16	81854298	A	G	A81854298G	PLCG2	NM_002661.5(PLCG2):c.194-146A>G	noncoding	Benign
16	81854333	T	C	T81854333C	PLCG2	NM_002661.5(PLCG2):c.194-111T>C	noncoding	Benign
16	81854352	A	C	A81854352C	PLCG2	NM_002661.5(PLCG2):c.194-92A>C	noncoding	Benign
16	81854372	G	C	G81854372C	PLCG2	NM_002661.5(PLCG2):c.194-72G>C	noncoding	Benign
16	81854632	G	C	G81854632C	PLCG2	NM_002661.5(PLCG2):c.337+45G>C	noncoding	Benign
16	81854669	C	A	C81854669A	PLCG2	NM_002661.5(PLCG2):c.337+82C>A	noncoding	Benign
16	81854739	G	A	G81854739A	PLCG2	NM_002661.5(PLCG2):c.337+152G>A	noncoding	Benign
16	81858185	C	G	C81858185G	PLCG2	NM_002661.5(PLCG2):c.338-78C>G	noncoding	Benign
16	81858393	G	C	G81858393C	PLCG2	NM_002661.5(PLCG2):c.431+37G>C	noncoding	Benign
16	81858443	A	C	A81858443C	PLCG2	NM_002661.5(PLCG2):c.431+87A>C	noncoding	Benign
16	81859102	A	G	A81859102G	PLCG2	NM_002661.5(PLCG2):c.432-14A>G	noncoding	Benign
16	81859290	C	T	C81859290T	PLCG2	NM_002661.5(PLCG2):c.479+127C>T	noncoding	Benign
16	81859308	C	T	C81859308T	PLCG2	NM_002661.5(PLCG2):c.479+145C>T	noncoding	Benign
16	81869141	C	G	C81869141G	PLCG2	NM_002661.5(PLCG2):c.480-73C>G	noncoding	Benign
16	81869158	A	G	A81869158G	PLCG2	NM_002661.5(PLCG2):c.480-56A>G	noncoding	Benign
16	81869192	A	G	A81869192G	PLCG2	NM_002661.5(PLCG2):c.480-22A>G	noncoding	Benign
16	81869385	G	A	G81869385A	PLCG2	NM_002661.5(PLCG2):c.564+87G>A	noncoding	Benign
16	81869450	G	A	G81869450A	PLCG2	NM_002661.5(PLCG2):c.564+152G>A	noncoding	Benign
16	81870663	C	G	C81870663G	PLCG2	NM_002661.5(PLCG2):c.565-189C>G	noncoding	Benign
16	81870770	C	A	C81870770A	PLCG2	NM_002661.5(PLCG2):c.565-82C>A	noncoding	Benign
16	81870947	C	G	C81870947G	PLCG2	NM_002661.5(PLCG2):c.648+12C>G	noncoding	Benign
16	81871033	T	C	T81871033C	PLCG2	NM_002661.5(PLCG2):c.648+98T>C	noncoding	Benign
16	81871069	T	C	T81871069C	PLCG2	NM_002661.5(PLCG2):c.648+134T>C	noncoding	Benign
16	81871106	T	A	T81871106A	PLCG2	NM_002661.5(PLCG2):c.648+171T>A	noncoding	Benign
16	81880698	C	A	C81880698A	PLCG2	NM_002661.5(PLCG2):c.649-212C>A	noncoding	Benign
16	81880978	C	T	C81880978T	PLCG2	NM_002661.5(PLCG2):c.692+25C>T	noncoding	Benign
16	81881014	A	C	A81881014C	PLCG2	NM_002661.5(PLCG2):c.692+61A>C	noncoding	Benign
16	81883494	G	T	G81883494T	PLCG2	NM_002661.5(PLCG2):c.765+153G>T	noncoding	Benign
16	81889107	C	T	C81889107T	PLCG2	NM_002661.5(PLCG2):c.766-65C>T	noncoding	Benign
16	81889159	T	G	T81889159G	PLCG2	NM_002661.5(PLCG2):c.766-13T>G	noncoding	Benign
16	81889296	C	T	C81889296T	PLCG2	NM_002661.5(PLCG2):c.867+23C>T	noncoding	Benign
16	81889410	A	G	A81889410G	PLCG2	NM_002661.5(PLCG2):c.867+137A>G	noncoding	Benign
16	81891288	C	A	C81891288A	PLCG2	NM_002661.5(PLCG2):c.868-184C>A	noncoding	Benign
16	81891339	G	A	G81891339A	PLCG2	NM_002661.5(PLCG2):c.868-133G>A	noncoding	Benign
16	81891389	C	T	C81891389T	PLCG2	NM_002661.5(PLCG2):c.868-83C>T	noncoding	Benign
16	81891454	C	T	C81891454T	PLCG2	NM_002661.5(PLCG2):c.868-18C>T	noncoding	Benign
16	81893612	G	C	G81893612C	PLCG2	NM_002661.5(PLCG2):c.987-97G>C	noncoding	Benign
16	81895580	A	G	A81895580G	PLCG2	NM_002661.5(PLCG2):c.1073-227A>G	noncoding	Benign
16	81895774	G	A	G81895774A	PLCG2	NM_002661.5(PLCG2):c.1073-33G>A	noncoding	Benign
16	81895890	G	A	G81895890A	PLCG2	NM_002661.5(PLCG2):c.1156G>A:p.Val386Met	coding	Benign
16	81896036	G	A	G81896036A	PLCG2	NM_002661.5(PLCG2):c.1193+109G>A	noncoding	Benign
16	81900442	T	C	T81900442C	PLCG2	NM_002661.5(PLCG2):c.1194-170T>C	noncoding	Benign
16	81905527	C	T	C81905527T	PLCG2	NM_002661.5(PLCG2):c.1467+20C>T	noncoding	Benign
16	81905545	G	C	G81905545C	PLCG2	NM_002661.5(PLCG2):c.1467+38G>C	noncoding	Benign
16	81905552	G	T	G81905552T	PLCG2	NM_002661.5(PLCG2):c.1467+45G>T	noncoding	Benign
16	81905570	C	A	C81905570A	PLCG2	NM_002661.5(PLCG2):c.1467+63C>A	noncoding	Benign
16	81905632	C	T	C81905632T	PLCG2	NM_002661.5(PLCG2):c.1467+125C>T	noncoding	Benign
16	81907496	A	G	A81907496G	PLCG2	NM_002661.5(PLCG2):c.1468-189A>G	noncoding	Benign
16	81907555	A	G	A81907555G	PLCG2	NM_002661.5(PLCG2):c.1468-130A>G	noncoding	Benign
16	81907839	C	T	C81907839T	PLCG2	NM_002661.5(PLCG2):c.1557+65C>T	noncoding	Benign
16	81908329	G	C	G81908329C	PLCG2	NM_002661.5(PLCG2):c.1558-87G>C	noncoding	Benign
16	81908706	G	T	G81908706T	PLCG2	NM_002661.5(PLCG2):c.1733+115G>T	noncoding	Benign
16	81912361	C	T	C81912361T	PLCG2	NM_002661.5(PLCG2):c.1935-236C>T	noncoding	Benign
16	81912583	G	T	G81912583T	PLCG2	NM_002661.5(PLCG2):c.1935-14G>T	noncoding	Benign
16	81912727	G	C	G81912727C	PLCG2	NM_002661.5(PLCG2):c.2054+11G>C	noncoding	Benign
16	81912763	A	C	A81912763C	PLCG2	NM_002661.5(PLCG2):c.2054+47A>C	noncoding	Benign
16	81912818	C	T	C81912818T	PLCG2	NM_002661.5(PLCG2):c.2054+102C>T	noncoding	Benign
16	81912866	G	T	G81912866T	PLCG2	NM_002661.5(PLCG2):c.2054+150G>T	noncoding	Benign
16	81919280	C	G	C81919280G	PLCG2	NM_002661.5(PLCG2):c.2055-204C>G	noncoding	Benign
16	81919299	G	C	G81919299C	PLCG2	NM_002661.5(PLCG2):c.2055-185G>C	noncoding	Benign
16	81919464	C	A	C81919464A	PLCG2	NM_002661.5(PLCG2):c.2055-20C>A	noncoding	Benign
16	81919476	T	C	T81919476C	PLCG2	NM_002661.5(PLCG2):c.2055-8T>C	noncoding	Benign
16	81919763	A	G	A81919763G	PLCG2	NM_002661.5(PLCG2):c.2235+99A>G	noncoding	Benign
16	81923322	C	G	C81923322G	PLCG2	NM_002661.5(PLCG2):c.2308-163C>G	noncoding	Benign
16	81923501	A	G	A81923501G	PLCG2	NM_002661.5(PLCG2):c.2324A>G:p.Lys775Arg	coding	Benign/Likely_benign
16	81923698	T	G	T81923698G	PLCG2	NM_002661.5(PLCG2):c.2417+104T>G	noncoding	Benign
16	81923744	G	T	G81923744T	PLCG2	NM_002661.5(PLCG2):c.2417+150G>T	noncoding	Benign
16	81923781	A	T	A81923781T	PLCG2	NM_002661.5(PLCG2):c.2417+187A>T	noncoding	Benign
16	81926886	C	G	C81926886G	PLCG2	NM_002661.5(PLCG2):c.2418-196C>G	noncoding	Benign
16	81926892	A	C	A81926892C	PLCG2	NM_002661.5(PLCG2):c.2418-190A>C	noncoding	Benign
16	81927054	C	T	C81927054T	PLCG2	NM_002661.5(PLCG2):c.2418-28C>T	noncoding	Benign
16	81927066	C	T	C81927066T	PLCG2	NM_002661.5(PLCG2):c.2418-16C>T	noncoding	Benign
16	81927353	G	C	G81927353C	PLCG2	NM_002661.5(PLCG2):c.2514+175G>C	noncoding	Benign
16	81928466	A	C	A81928466C	PLCG2	NM_002661.5(PLCG2):c.2515-92A>C	noncoding	Benign
16	81928544	T	G	T81928544G	PLCG2	NM_002661.5(PLCG2):c.2515-14T>G	noncoding	Benign
16	81931372	A	G	A81931372G	PLCG2	NM_002661.5(PLCG2):c.2582-125A>G	noncoding	Benign
16	81931573	G	A	G81931573A	PLCG2	NM_002661.5(PLCG2):c.2658G>A:p.Val886=	coding	Benign
16	81934473	C	T	C81934473T	PLCG2	NM_002661.5(PLCG2):c.2784C>T:p.Ile928=	coding	Benign
16	81937739	C	T	C81937739T	PLCG2	NM_002661.5(PLCG2):c.3053-19C>T	noncoding	Benign
16	81937923	C	G	C81937923G	PLCG2	NM_002661.5(PLCG2):c.3198+20C>G	noncoding	Benign
16	81937977	A	G	A81937977G	PLCG2	NM_002661.5(PLCG2):c.3198+74A>G	noncoding	Benign
16	81938052	T	C	T81938052C	PLCG2	NM_002661.5(PLCG2):c.3198+149T>C	noncoding	Benign
16	81938072	G	A	G81938072A	PLCG2	NM_002661.5(PLCG2):c.3198+169G>A	noncoding	Benign
16	81938663	G	A	G81938663A	PLCG2	NM_002661.5(PLCG2):c.3199-138G>A	noncoding	Benign
16	81938678	T	G	T81938678G	PLCG2	NM_002661.5(PLCG2):c.3199-123T>G	noncoding	Benign
16	81938684	A	C	A81938684C	PLCG2	NM_002661.5(PLCG2):c.3199-117A>C	noncoding	Benign
16	81939793	T	G	T81939793G	PLCG2	NM_002661.5(PLCG2):c.3314-99T>G	noncoding	Benign
16	81939837	T	C	T81939837C	PLCG2	NM_002661.5(PLCG2):c.3314-55T>C	noncoding	Benign
16	81939869	C	A	C81939869A	PLCG2	NM_002661.5(PLCG2):c.3314-23C>A	noncoding	Benign
16	81940183	T	C	T81940183C	PLCG2	NM_002661.5(PLCG2):c.3481+124T>C	noncoding	Benign
16	81940200	A	T	A81940200T	PLCG2	NM_002661.5(PLCG2):c.3481+141A>T	noncoding	Benign
16	81946414	T	C	T81946414C	PLCG2	NM_002661.5(PLCG2):c.3570+151T>C	noncoding	Benign
16	81956795	G	A	G81956795A	PLCG2	NM_002661.5(PLCG2):c.3671G>A:p.Arg1224His	coding	Benign/Likely_benign
16	81958183	T	C	T81958183C	PLCG2	NM_002661.5(PLCG2):c.*185T>C	noncoding	Benign
16	82626550	G	T	G82626550T	CDH13	Single_allele	noncoding	Benign
16	82627349	T	C	T82627349C	CDH13	NM_001257.5(CDH13):c.45+212T>C	noncoding	Benign
16	82858053	A	G	A82858053G	CDH13	NM_001257.5(CDH13):c.46-309A>G	noncoding	Benign
16	82858291	G	A	G82858291A	CDH13	NM_001257.5(CDH13):c.46-71G>A	noncoding	Benign
16	83031764	G	C	G83031764C	CDH13	NM_001257.5(CDH13):c.158-246G>C	noncoding	Benign
16	83031798	T	C	T83031798C	CDH13	NM_001257.5(CDH13):c.158-212T>C	noncoding	Benign
16	83031886	G	C	G83031886C	CDH13	NM_001257.5(CDH13):c.158-124G>C	noncoding	Benign
16	83032299	T	C	T83032299C	CDH13	NM_001257.5(CDH13):c.366+81T>C	noncoding	Benign
16	83032360	T	A	T83032360A	CDH13	NM_001257.5(CDH13):c.366+142T>A	noncoding	Benign
16	83125273	A	G	A83125273G	CDH13	NM_001257.5(CDH13):c.367-112A>G	noncoding	Benign
16	83125550	T	C	T83125550C	CDH13	NM_001257.5(CDH13):c.483+49T>C	noncoding	Benign
16	83125745	A	C	A83125745C	CDH13	NM_001257.5(CDH13):c.483+244A>C	noncoding	Benign
16	83217219	C	A	C83217219A	CDH13	NM_001257.5(CDH13):c.484-126C>A	noncoding	Benign
16	83217605	G	A	G83217605A	CDH13	NM_001257.5(CDH13):c.636+108G>A	noncoding	Benign
16	83217654	C	A	C83217654A	CDH13	NM_001257.5(CDH13):c.636+157C>A	noncoding	Benign
16	83486377	G	T	G83486377T	CDH13	NM_001257.5(CDH13):c.782-100G>T	noncoding	Benign
16	83486693	T	C	T83486693C	CDH13	NM_001257.5(CDH13):c.960+38T>C	noncoding	Benign
16	83486737	G	A	G83486737A	CDH13	NM_001257.5(CDH13):c.960+82G>A	noncoding	Benign
16	83486838	C	G	C83486838G	CDH13	NM_001257.5(CDH13):c.960+183C>G	noncoding	Benign
16	83671062	A	G	A83671062G	CDH13	NM_001257.5(CDH13):c.1284+90A>G	noncoding	Benign
16	83747797	C	T	C83747797T	CDH13	NM_001257.5(CDH13):c.1539-311C>T	noncoding	Benign
16	83747999	T	C	T83747999C	CDH13	NM_001257.5(CDH13):c.1539-109T>C	noncoding	Benign
16	83748314	T	C	T83748314C	CDH13	NM_001257.5(CDH13):c.1681+64T>C	noncoding	Benign
16	83748390	A	C	A83748390C	CDH13	NM_001257.5(CDH13):c.1681+140A>C	noncoding	Benign
16	83779639	A	G	A83779639G	CDH13	NM_001257.5(CDH13):c.1682-329A>G	noncoding	Benign
16	83779689	T	C	T83779689C	CDH13	NM_001257.5(CDH13):c.1682-279T>C	noncoding	Benign
16	83779788	G	A	G83779788A	CDH13	NM_001257.5(CDH13):c.1682-180G>A	noncoding	Benign
16	83779817	C	T	C83779817T	CDH13	NM_001257.5(CDH13):c.1682-151C>T	noncoding	Benign
16	83779906	G	A	G83779906A	CDH13	NM_001257.5(CDH13):c.1682-62G>A	noncoding	Benign
16	83779909	A	G	A83779909G	CDH13	NM_001257.5(CDH13):c.1682-59A>G	noncoding	Benign
16	83780471	T	A	T83780471A	CDH13	NM_001257.5(CDH13):c.1915+270T>A	noncoding	Benign
16	83782959	T	C	T83782959C	CDH13	NM_001257.5(CDH13):c.1916-295T>C	noncoding	Benign
16	83782974	C	T	C83782974T	CDH13	NM_001257.5(CDH13):c.1916-280C>T	noncoding	Benign
16	83783016	T	C	T83783016C	CDH13	NM_001257.5(CDH13):c.1916-238T>C	noncoding	Benign
16	83783032	C	G	C83783032G	CDH13	NM_001257.5(CDH13):c.1916-222C>G	noncoding	Benign
16	83783223	A	G	A83783223G	CDH13	NM_001257.5(CDH13):c.1916-31A>G	noncoding	Benign
16	83794848	A	G	A83794848G	CDH13	NM_001257.5(CDH13):c.2135-175A>G	noncoding	Benign
16	83794883	A	G	A83794883G	CDH13	NM_001257.5(CDH13):c.2135-140A>G	noncoding	Benign
16	83794939	C	G	C83794939G	CDH13	NM_001257.5(CDH13):c.2135-84C>G	noncoding	Benign
16	83795311	A	G	A83795311G	CDH13	NM_001257.5(CDH13):c.*281A>G	noncoding	Benign
16	83807608	G	T	G83807608T	HSBP1	Single_allele	noncoding	Benign
16	83807955	G	T	G83807955T	HSBP1	Single_allele	noncoding	Benign
16	83808916	A	C	A83808916C	HSBP1	NM_001537.4(HSBP1):c.112+170A>C	noncoding	Benign
16	83809187	G	T	G83809187T	HSBP1	NM_001537.4(HSBP1):c.113-118G>T	noncoding	Benign
16	83809239	G	C	G83809239C	HSBP1	NM_001537.4(HSBP1):c.113-66G>C	noncoding	Benign
16	83898913	G	A	G83898913A	MLYCD	Single_allele	noncoding	Benign
16	83899112	G	C	G83899112C	MLYCD	NM_012213.2(MLYCD):c.-33G>C	noncoding	Benign
16	83899376	C	T	C83899376T	MLYCD	NM_012213.3(MLYCD):c.232C>T:p.Leu78=	coding	Benign
16	83899520	G	T	G83899520T	MLYCD	NM_012213.3(MLYCD):c.376G>T:p.Glu126Ter	coding	Pathogenic
16	83899537	C	T	C83899537T	MLYCD	NM_012213.3(MLYCD):c.393C>T:p.Tyr131=	coding	Benign/Likely_benign
16	83899849	C	T	C83899849T	MLYCD	NM_012213.3(MLYCD):c.528+177C>T	noncoding	Benign
16	83906697	G	C	G83906697C	MLYCD	NM_012213.3(MLYCD):c.529-290G>C	noncoding	Benign
16	83906875	A	G	A83906875G	MLYCD	NM_012213.3(MLYCD):c.529-112A>G	noncoding	Benign
16	83906889	C	T	C83906889T	MLYCD	NM_012213.3(MLYCD):c.529-98C>T	noncoding	Benign
16	83907127	G	T	G83907127T	MLYCD	NM_012213.3(MLYCD):c.641+28G>T	noncoding	Benign
16	83907245	A	G	A83907245G	MLYCD	NM_012213.3(MLYCD):c.641+146A>G	noncoding	Benign
16	83907251	C	T	C83907251T	MLYCD	NM_012213.3(MLYCD):c.641+152C>T	noncoding	Benign
16	83907272	C	T	C83907272T	MLYCD	NM_012213.3(MLYCD):c.641+173C>T	noncoding	Benign
16	83907291	C	A	C83907291A	MLYCD	NM_012213.3(MLYCD):c.641+192C>A	noncoding	Benign
16	83907317	T	C	T83907317C	MLYCD	NM_012213.3(MLYCD):c.641+218T>C	noncoding	Benign
16	83907389	C	G	C83907389G	MLYCD	NM_012213.3(MLYCD):c.641+290C>G	noncoding	Benign
16	83907425	A	G	A83907425G	MLYCD	NM_012213.3(MLYCD):c.641+326A>G	noncoding	Benign
16	83907429	G	C	G83907429C	MLYCD	NM_012213.3(MLYCD):c.641+330G>C	noncoding	Benign
16	83907901	G	A	G83907901A	MLYCD	NM_012213.3(MLYCD):c.642-225G>A	noncoding	Benign
16	83908124	A	C	A83908124C	MLYCD	NM_012213.3(MLYCD):c.642-2A>C	noncoding	Pathogenic
16	83908434	C	T	C83908434T	MLYCD	NM_012213.3(MLYCD):c.798+152C>T	noncoding	Benign
16	83908436	A	T	A83908436T	MLYCD	NM_012213.3(MLYCD):c.798+154A>T	noncoding	Benign
16	83911896	T	G	T83911896G	MLYCD	NM_012213.3(MLYCD):c.799-322T>G	noncoding	Benign
16	83912202	C	T	C83912202T	MLYCD	NM_012213.3(MLYCD):c.799-16C>T	noncoding	Benign/Likely_benign
16	83912511	A	G	A83912511G	MLYCD	NM_012213.3(MLYCD):c.948+144A>G	noncoding	Benign
16	83912606	C	T	C83912606T	MLYCD	NM_012213.3(MLYCD):c.948+239C>T	noncoding	Benign
16	83915011	C	A	C83915011A	MLYCD	NM_012213.3(MLYCD):c.1004C>A:p.Thr335Asn	coding	Benign
16	84009524	T	C	T84009524C	SLC38A8	Single_allele	noncoding	Benign
16	84009775	A	G	A84009775G	SLC38A8	NM_001080442.3(SLC38A8):c.*9T>C	noncoding	Benign
16	84009787	G	C	G84009787C	SLC38A8	NM_001080442.3(SLC38A8):c.1305C>G:p.Phe435Leu	coding	Benign
16	84012797	G	C	G84012797C	SLC38A8	NM_001080442.3(SLC38A8):c.1214+204C>G	noncoding	Benign
16	84012807	T	C	T84012807C	SLC38A8	NM_001080442.3(SLC38A8):c.1214+194A>G	noncoding	Benign
16	84012827	A	G	A84012827G	SLC38A8	NM_001080442.3(SLC38A8):c.1214+174T>C	noncoding	Benign
16	84012885	G	A	G84012885A	SLC38A8	NM_001080442.3(SLC38A8):c.1214+116C>T	noncoding	Benign
16	84012894	C	T	C84012894T	SLC38A8	NM_001080442.3(SLC38A8):c.1214+107G>A	noncoding	Benign
16	84016304	T	G	T84016304G	SLC38A8	NM_001080442.3(SLC38A8):c.1162+215A>C	noncoding	Benign
16	84016604	G	A	G84016604A	SLC38A8	NM_001080442.3(SLC38A8):c.1077C>T:p.Leu359=	coding	Benign
16	84016613	G	A	G84016613A	SLC38A8	NM_001080442.3(SLC38A8):c.1068C>T:p.Thr356=	coding	Benign
16	84022837	G	C	G84022837C	SLC38A8	NM_001080442.3(SLC38A8):c.743C>G:p.Ser248Cys	coding	Benign
16	84029515	G	A	G84029515A	SLC38A8	NM_001080442.3(SLC38A8):c.669C>T:p.Pro223=	coding	Benign
16	84029525	C	G	C84029525G	SLC38A8	NM_001080442.3(SLC38A8):c.659G>C:p.Ser220Thr	coding	Benign
16	84029610	G	A	G84029610A	SLC38A8	NM_001080442.3(SLC38A8):c.633-59C>T	noncoding	Benign
16	84029614	G	C	G84029614C	SLC38A8	NM_001080442.3(SLC38A8):c.633-63C>G	noncoding	Benign
16	84029815	G	A	G84029815A	SLC38A8	NM_001080442.3(SLC38A8):c.633-264C>T	noncoding	Benign
16	84031602	A	T	A84031602T	SLC38A8	NM_001080442.3(SLC38A8):c.632+265T>A	noncoding	Benign
16	84031866	C	T	C84031866T	SLC38A8	NM_001080442.3(SLC38A8):c.632+1G>A	noncoding	Pathogenic
16	84031981	C	T	C84031981T	SLC38A8	NM_001080442.3(SLC38A8):c.531-13G>A	noncoding	Benign
16	84032105	A	G	A84032105G	SLC38A8	NM_001080442.3(SLC38A8):c.531-137T>C	noncoding	Benign
16	84032115	G	A	G84032115A	SLC38A8	NM_001080442.3(SLC38A8):c.531-147C>T	noncoding	Benign
16	84033399	C	T	C84033399T	SLC38A8	NM_001080442.3(SLC38A8):c.459G>A:p.Leu153=	coding	Benign
16	84033418	G	C	G84033418C	SLC38A8	NM_001080442.3(SLC38A8):c.440C>G:p.Ala147Gly	coding	Benign
16	84033423	C	T	C84033423T	SLC38A8	NM_001080442.3(SLC38A8):c.435G>A:p.Trp145Ter	coding	Pathogenic
16	84036431	A	G	A84036431G	SLC38A8	NM_001080442.3(SLC38A8):c.388+271T>C	noncoding	Benign
16	84036448	C	G	C84036448G	SLC38A8	NM_001080442.3(SLC38A8):c.388+254G>C	noncoding	Benign
16	84036538	C	G	C84036538G	SLC38A8	NM_001080442.3(SLC38A8):c.388+164G>C	noncoding	Benign
16	84036633	C	A	C84036633A	SLC38A8	NM_001080442.3(SLC38A8):c.388+69G>T	noncoding	Benign
16	84036697	C	T	C84036697T	SLC38A8	NM_001080442.3(SLC38A8):c.388+5G>A	noncoding	Pathogenic
16	84036701	C	A	C84036701A	SLC38A8	NM_001080442.3(SLC38A8):c.388+1G>T	noncoding	Pathogenic
16	84036817	C	T	C84036817T	SLC38A8	NM_001080442.3(SLC38A8):c.273G>A:p.Val91=	coding	Benign
16	84036826	G	C	G84036826C	SLC38A8	NM_001080442.3(SLC38A8):c.264C>G:p.Tyr88Ter	coding	Pathogenic
16	84036895	C	G	C84036895G	SLC38A8	NM_001080442.3(SLC38A8):c.195G>C:p.Ser65=	coding	Benign
16	84036905	G	A	G84036905A	SLC38A8	NM_001080442.3(SLC38A8):c.190-5C>T	noncoding	Benign
16	84037023	A	G	A84037023G	SLC38A8	NM_001080442.3(SLC38A8):c.190-123T>C	noncoding	Benign
16	84054451	A	G	A84054451G	MBTPS1	NM_003791.4(MBTPS1):c.3157T>C:p.Ter1053Arg	coding	Pathogenic
16	84054657	C	T	C84054657T	MBTPS1	NM_003791.4(MBTPS1):c.2963-12G>A	noncoding	Benign
16	84054662	G	A	G84054662A	MBTPS1	NM_003791.4(MBTPS1):c.2963-17C>T	noncoding	Benign
16	84054663	G	C	G84054663C	MBTPS1	NM_003791.4(MBTPS1):c.2963-18C>G	noncoding	Benign
16	84056026	C	T	C84056026T	MBTPS1	NM_003791.4(MBTPS1):c.2941G>A:p.Gly981Ser	coding	Benign
16	84059291	C	T	C84059291T	MBTPS1	NM_003791.4(MBTPS1):c.2831+11G>A	noncoding	Benign
16	84059307	C	T	C84059307T	MBTPS1	NM_003791.4(MBTPS1):c.2826G>A:p.Ala942=	coding	Benign
16	84059346	G	A	G84059346A	MBTPS1	NM_003791.4(MBTPS1):c.2787C>T:p.Arg929=	coding	Benign
16	84063416	C	G	C84063416G	MBTPS1	NM_003791.4(MBTPS1):c.2461G>C:p.Val821Leu	coding	Benign
16	84065783	C	G	C84065783G	MBTPS1	NM_003791.4(MBTPS1):c.2354-16G>C	noncoding	Benign
16	84066568	C	T	C84066568T	MBTPS1	NM_003791.4(MBTPS1):c.2274G>A:p.Leu758=	coding	Benign
16	84067836	G	A	G84067836A	MBTPS1	NM_003791.4(MBTPS1):c.2072-13C>T	noncoding	Benign
16	84068370	G	A	G84068370A	MBTPS1	NM_003791.4(MBTPS1):c.2040C>T:p.Ala680=	coding	Benign
16	84070041	A	G	A84070041G	MBTPS1	NM_003791.4(MBTPS1):c.1783-3T>C	noncoding	Benign
16	84081788	G	A	G84081788A	MBTPS1	NM_003791.4(MBTPS1):c.1407C>T:p.Leu469=	coding	Benign
16	84081878	G	A	G84081878A	MBTPS1	NM_003791.4(MBTPS1):c.1317C>T:p.Pro439=	coding	Benign
16	84087428	A	C	A84087428C	MBTPS1	NM_003791.4(MBTPS1):c.1064T>G:p.Val355Gly	coding	Pathogenic
16	84091789	G	A	G84091789A	MBTPS1	NM_003791.4(MBTPS1):c.906C>T:p.Asp302=	coding	Benign
16	84091862	A	G	A84091862G	MBTPS1	NM_003791.4(MBTPS1):c.847-14T>C	noncoding	Benign
16	84093174	C	T	C84093174T	MBTPS1	NM_003791.4(MBTPS1):c.846+14G>A	noncoding	Benign
16	84093296	C	T	C84093296T	MBTPS1	NM_003791.4(MBTPS1):c.738G>A:p.Gly246=	coding	Benign
16	84101767	A	G	A84101767G	MBTPS1	NM_003791.4(MBTPS1):c.17T>C:p.Ile6Thr	coding	Benign
16	84145042	A	G	A84145042G	DNAAF1	NM_031463.5(HSDL1):c.-69+38T>C	noncoding	Benign
16	84145087	C	G	C84145087G	DNAAF1	NM_031463.5(HSDL1):c.-76G>C	noncoding	Benign
16	84149361	C	G	C84149361G	DNAAF1	NM_178452.6(DNAAF1):c.260+219C>G	noncoding	Benign
16	84150197	G	A	G84150197A	DNAAF1	NM_178452.6(DNAAF1):c.261-54G>A	noncoding	Benign
16	84150293	G	C	G84150293C	DNAAF1	NM_178452.6(DNAAF1):c.303G>C:p.Lys101Asn	coding	Benign/Likely_benign
16	84154271	T	C	T84154271C	DNAAF1	NM_178452.6(DNAAF1):c.353-306T>C	noncoding	Benign
16	84154285	G	T	G84154285T	DNAAF1	NM_178452.6(DNAAF1):c.353-292G>T	noncoding	Benign
16	84155936	A	C	A84155936C	DNAAF1	NM_178452.6(DNAAF1):c.741+187A>C	noncoding	Benign
16	84159384	T	G	T84159384G	DNAAF1	NM_178452.6(DNAAF1):c.742-291T>G	noncoding	Benign
16	84159536	A	G	A84159536G	DNAAF1	NM_178452.6(DNAAF1):c.742-139A>G	noncoding	Benign
16	84159565	A	C	A84159565C	DNAAF1	NM_178452.6(DNAAF1):c.742-110A>C	noncoding	Benign
16	84159955	T	C	T84159955C	DNAAF1	NM_178452.6(DNAAF1):c.863+159T>C	noncoding	Benign
16	84160035	T	A	T84160035A	DNAAF1	NM_178452.6(DNAAF1):c.863+239T>A	noncoding	Benign
16	84160103	C	T	C84160103T	DNAAF1	NM_178452.6(DNAAF1):c.863+307C>T	noncoding	Benign
16	84165493	A	T	A84165493T	DNAAF1	NM_178452.6(DNAAF1):c.864-290A>T	noncoding	Benign
16	84165589	T	C	T84165589C	DNAAF1	NM_178452.6(DNAAF1):c.864-194T>C	noncoding	Benign
16	84165614	G	T	G84165614T	DNAAF1	NM_178452.6(DNAAF1):c.864-169G>T	noncoding	Benign
16	84165841	C	T	C84165841T	DNAAF1	NM_178452.6(DNAAF1):c.922C>T:p.Gln308Ter	coding	Pathogenic
16	84165963	C	T	C84165963T	DNAAF1	NM_178452.6(DNAAF1):c.1030+14C>T	noncoding	Benign/Likely_benign
16	84166011	C	G	C84166011G	DNAAF1	NM_178452.6(DNAAF1):c.1030+62C>G	noncoding	Benign
16	84169750	T	G	T84169750G	DNAAF1	NM_178452.6(DNAAF1):c.1031-109T>G	noncoding	Benign
16	84170358	T	C	T84170358C	DNAAF1	NM_178452.6(DNAAF1):c.1528+2T>C	noncoding	Pathogenic/Likely_pathogenic
16	84170437	T	A	T84170437A	DNAAF1	NM_178452.6(DNAAF1):c.1528+81T>A	noncoding	Benign
16	84170579	C	T	C84170579T	DNAAF1	NM_178452.6(DNAAF1):c.1528+223C>T	noncoding	Benign
16	84172389	T	C	T84172389C	DNAAF1	NM_178452.6(DNAAF1):c.1644+14T>C	noncoding	Benign
16	84174426	T	G	T84174426G	DNAAF1	NM_178452.6(DNAAF1):c.1645-243T>G	noncoding	Benign
16	84174538	C	G	C84174538G	DNAAF1	NM_178452.6(DNAAF1):c.1645-131C>G	noncoding	Benign
16	84174650	G	A	G84174650A	DNAAF1	NM_178452.6(DNAAF1):c.1645-19G>A	noncoding	Benign
16	84174836	T	C	T84174836C	DNAAF1	NM_178452.6(DNAAF1):c.1698+114T>C	noncoding	Benign
16	84175748	T	A	T84175748A	DNAAF1	NM_178452.6(DNAAF1):c.1699-185T>A	noncoding	Benign
16	84176164	A	T	A84176164T	DNAAF1	NM_178452.6(DNAAF1):c.1930A>T:p.Arg644Ter	coding	Pathogenic
16	84176191	G	T	G84176191T	DNAAF1	NM_178452.6(DNAAF1):c.1957G>T:p.Glu653Ter	coding	Pathogenic
16	84176566	T	G	T84176566G	DNAAF1	NM_178452.6(DNAAF1):c.2065+267T>G	noncoding	Benign
16	84178112	C	T	C84178112T	DNAAF1	NM_001243156.2(TAF1C):c.*829G>A	noncoding	Benign
16	84178129	A	C	A84178129C	DNAAF1	NM_001243156.2(TAF1C):c.*812T>G	noncoding	Benign
16	84440878	G	A	G84440878A	ATP2C2	NM_014861.4(ATP2C2):c.1231G>A:p.Gly411Ser	coding	Benign
16	84460646	C	T	C84460646T	ATP2C2	NM_014861.4(ATP2C2):c.2334-8C>T	noncoding	Benign
16	84461695	C	G	C84461695G	ATP2C2	NM_014861.4(ATP2C2):c.2482-19C>G	noncoding	Benign
16	85911625	C	T	C85911625T	IRF8	NM_002163.4(IRF8):c.414C>T:p.Cys138=	coding	Benign
16	85914492	G	A	G85914492A	IRF8	NM_002163.4(IRF8):c.573G>A:p.Gly191=	coding	Benign
16	85918398	G	A	G85918398A	IRF8	NM_002163.4(IRF8):c.602-19G>A	coding	Benign
16	85921123	C	T	C85921123T	IRF8	NM_002163.4(IRF8):c.1122C>T:p.Val374=	coding	Benign
16	85921636	C	T	C85921636T	IRF8	NM_002163.4(IRF8):c.*354C>T	noncoding	Benign
16	86183013	C	T	C86183013T	FOXF1	NC_000016.9:g.86216619C>T	noncoding	Benign
16	86184620	G	A	G86184620A	FOXF1	NC_000016.9:g.86218226G>A	noncoding	Benign
16	86184895	G	A	G86184895A	FOXF1	NC_000016.9:g.86218501G>A	noncoding	Benign
16	86186622	T	G	T86186622G	FOXF1	NC_000016.9:g.86220228T>G	noncoding	Benign
16	86186838	T	C	T86186838C	FOXF1	NC_000016.9:g.86220444T>C	noncoding	Benign
16	86510208	T	C	T86510208C	FOXF1	Single_allele	noncoding	Benign
16	86510441	C	A	C86510441A	FOXF1	Single_allele	noncoding	Benign
16	86510826	G	C	G86510826C	FOXF1	NM_001451.3(FOXF1):c.257G>C:p.Arg86Pro	coding	Pathogenic
16	86510845	G	A	G86510845A	FOXF1	NM_001451.3(FOXF1):c.276G>A:p.Trp92Ter	coding	Pathogenic
16	86510871	C	T	C86510871T	FOXF1	NM_001451.3(FOXF1):c.302C>T:p.Ser101Leu	coding	Pathogenic
16	86511237	C	A	C86511237A	FOXF1	NM_001451.3(FOXF1):c.668C>A:p.Ser223Ter	coding	Pathogenic
16	86511850	C	G	C86511850G	FOXF1	NM_001451.3(FOXF1):c.979+302C>G	noncoding	Benign
16	86511850	C	T	C86511850T	FOXF1	NM_001451.3(FOXF1):c.979+302C>T	noncoding	Benign
16	86512621	T	C	T86512621C	FOXF1	NM_001451.3(FOXF1):c.980-304T>C	noncoding	Benign
16	86513183	A	G	A86513183G	FOXF1	NM_001451.3(FOXF1):c.*98A>G	noncoding	Benign
16	86513281	T	C	T86513281C	FOXF1	NM_001451.3(FOXF1):c.*196T>C	noncoding	Benign
16	86513395	C	T	C86513395T	FOXF1	NM_001451.3(FOXF1):c.*310C>T	noncoding	Benign
16	86514232	T	C	T86514232C	FOXF1	NM_001451.3(FOXF1):c.*1147T>C	noncoding	Benign
16	86566986	G	T	G86566986T	FOXC2	NM_005251.3(FOXC2):c.-350G>T	noncoding	Benign
16	86567633	C	T	C86567633T	FOXC2	NM_005251.3(FOXC2):c.298C>T:p.Gln100Ter	coding	Pathogenic
16	86567959	G	A	G86567959A	FOXC2	NM_005251.3(FOXC2):c.624G>A:p.Glu208=	coding	Benign
16	86569101	A	G	A86569101G	FOXC2	NM_005251.3(FOXC2):c.*260A>G	noncoding	Benign
16	87381644	T	C	T87381644C	FBXO31	NM_024735.5(FBXO31):c.340+1761A>G	noncoding	Benign
16	87888259	C	T	C87888259T	CA5A	NM_001739.2(CA5A):c.788G>A:p.Arg263His	coding	Benign
16	87891852	C	T	C87891852T	CA5A	NM_001739.2(CA5A):c.721G>A:p.Glu241Lys	coding	Pathogenic/Likely_pathogenic
16	87900143	T	C	T87900143C	CA5A	NM_001739.2(CA5A):c.618+1769A>G	noncoding	Benign
16	87902413	G	C	G87902413C	CA5A	NM_001739.2(CA5A):c.555+12C>G	noncoding	Benign
16	87926728	G	C	G87926728C	CA5A	NM_001739.2(CA5A):c.340+20C>G	noncoding	Benign/Likely_benign
16	88427797	G	A	G88427797A	ZNF469	NM_001367624.2(ZNF469):c.327G>A:p.Ala109=	coding	Benign/Likely_benign
16	88428094	G	A	G88428094A	ZNF469	NM_001367624.2(ZNF469):c.624G>A:p.Pro208=	coding	Benign/Likely_benign
16	88428221	C	A	C88428221A	ZNF469	NM_001367624.2(ZNF469):c.751C>A:p.Pro251Thr	coding	Benign/Likely_benign
16	88429383	C	T	C88429383T	ZNF469	NM_001367624.2(ZNF469):c.1913C>T:p.Pro638Leu	coding	Benign/Likely_benign
16	88429423	G	A	G88429423A	ZNF469	NM_001367624.2(ZNF469):c.1953G>A:p.Pro651=	coding	Benign/Likely_benign
16	88429464	C	T	C88429464T	ZNF469	NM_001367624.2(ZNF469):c.1994C>T:p.Pro665Leu	coding	Benign/Likely_benign
16	88429840	G	A	G88429840A	ZNF469	NM_001367624.2(ZNF469):c.2370G>A:p.Leu790=	coding	Benign/Likely_benign
16	88430044	G	C	G88430044C	ZNF469	NM_001367624.2(ZNF469):c.2574G>C:p.Pro858=	coding	Benign/Likely_benign
16	88430123	C	G	C88430123G	ZNF469	NM_001367624.2(ZNF469):c.2653C>G:p.Leu885Val	coding	Benign/Likely_benign
16	88430136	C	T	C88430136T	ZNF469	NM_001367624.2(ZNF469):c.2666C>T:p.Ala889Val	coding	Benign/Likely_benign
16	88430273	G	A	G88430273A	ZNF469	NM_001367624.2(ZNF469):c.2803G>A:p.Glu935Lys	coding	Benign/Likely_benign
16	88430717	G	A	G88430717A	ZNF469	NM_001367624.2(ZNF469):c.3247G>A:p.Gly1083Arg	noncoding	Benign
16	88430811	G	T	G88430811T	ZNF469	NM_001367624.2(ZNF469):c.3341G>T:p.Arg1114Leu	coding	Benign/Likely_benign
16	88430974	C	T	C88430974T	ZNF469	NM_001367624.2(ZNF469):c.3504C>T:p.Ser1168=	coding	Benign/Likely_benign
16	88431222	C	T	C88431222T	ZNF469	NM_001367624.2(ZNF469):c.3752C>T:p.Ala1251Val	coding	Benign/Likely_benign
16	88431243	C	A	C88431243A	ZNF469	NM_001367624.2(ZNF469):c.3773C>A:p.Ala1258Glu	coding	Benign/Likely_benign
16	88431833	C	G	C88431833G	ZNF469	NM_001367624.2(ZNF469):c.4363C>G:p.Leu1455Val	coding	Benign/Likely_benign
16	88431904	C	T	C88431904T	ZNF469	NM_001367624.2(ZNF469):c.4434C>T:p.Ser1478=	coding	Benign/Likely_benign
16	88432069	A	C	A88432069C	ZNF469	NM_001367624.2(ZNF469):c.4599A>C:p.Thr1533=	coding	Benign/Likely_benign
16	88432354	G	A	G88432354A	ZNF469	NM_001367624.2(ZNF469):c.4884G>A:p.Thr1628=	coding	Benign/Likely_benign
16	88432459	C	T	C88432459T	ZNF469	NM_001367624.2(ZNF469):c.4989C>T:p.Ser1663_Phe1664=	coding	Benign
16	88432699	C	A	C88432699A	ZNF469	NM_001367624.2(ZNF469):c.5229C>A:p.Pro1743=	coding	Benign/Likely_benign
16	88432884	C	A	C88432884A	ZNF469	NM_001367624.2(ZNF469):c.5414C>A:p.Pro1805His	coding	Benign/Likely_benign
16	88433007	C	T	C88433007T	ZNF469	NM_001367624.2(ZNF469):c.5537C>T:p.Thr1846Met	coding	Benign/Likely_benign
16	88433294	G	A	G88433294A	ZNF469	NM_001367624.2(ZNF469):c.5824G>A:p.Gly1942Arg	coding	Benign/Likely_benign
16	88433332	C	T	C88433332T	ZNF469	NM_001367624.2(ZNF469):c.5862C>T:p.Pro1954=	coding	Benign/Likely_benign
16	88433506	G	A	G88433506A	ZNF469	NM_001367624.2(ZNF469):c.6036G>A:p.Thr2012=	coding	Benign/Likely_benign
16	88433649	C	A	C88433649A	ZNF469	NM_001367624.2(ZNF469):c.6179C>A:p.Ser2060Tyr	coding	Benign/Likely_benign
16	88433884	G	T	G88433884T	ZNF469	NM_001367624.2(ZNF469):c.6414G>T:p.Ser2138=	coding	Benign/Likely_benign
16	88433915	C	T	C88433915T	ZNF469	NM_001367624.2(ZNF469):c.6445C>T:p.Gln2149Ter	coding	Pathogenic
16	88433959	G	A	G88433959A	ZNF469	NM_001367624.2(ZNF469):c.6489G>A:p.Gln2163=	coding	Benign/Likely_benign
16	88434270	G	A	G88434270A	ZNF469	NM_001367624.2(ZNF469):c.6800G>A:p.Arg2267Gln	coding	Benign/Likely_benign
16	88434271	A	T	A88434271T	ZNF469	NM_001367624.2(ZNF469):c.6801A>T:p.Arg2267=	coding	Benign/Likely_benign
16	88434764	C	T	C88434764T	ZNF469	NM_001367624.2(ZNF469):c.7294C>T:p.Gln2432Ter	coding	Pathogenic
16	88434816	G	A	G88434816A	ZNF469	NM_001367624.2(ZNF469):c.7346G>A:p.Arg2449His	coding	Benign
16	88434936	G	A	G88434936A	ZNF469	NM_001367624.2(ZNF469):c.7466G>A:p.Arg2489Gln	coding	Benign/Likely_benign
16	88435081	G	C	G88435081C	ZNF469	NM_001367624.2(ZNF469):c.7611G>C:p.Glu2537Asp	coding	Benign/Likely_benign
16	88435275	T	C	T88435275C	ZNF469	NM_001367624.2(ZNF469):c.7805T>C:p.Leu2602Pro	coding	Benign/Likely_benign
16	88435405	G	A	G88435405A	ZNF469	NM_001367624.2(ZNF469):c.7935G>A:p.Glu2645=	coding	Benign/Likely_benign
16	88435682	G	A	G88435682A	ZNF469	NM_001367624.2(ZNF469):c.8212G>A:p.Ala2738Thr	coding	Benign/Likely_benign
16	88435851	C	T	C88435851T	ZNF469	NM_001367624.2(ZNF469):c.8381C>T:p.Thr2794Met	coding	Benign/Likely_benign
16	88436013	A	G	A88436013G	ZNF469	NM_001367624.2(ZNF469):c.8543A>G:p.Asp2848Gly	coding	Benign
16	88436164	C	T	C88436164T	ZNF469	NM_001367624.2(ZNF469):c.8694C>T:p.Gly2898=	coding	Benign/Likely_benign
16	88436338	C	T	C88436338T	ZNF469	NM_001367624.2(ZNF469):c.8868C>T:p.Pro2956=	coding	Benign/Likely_benign
16	88436474	A	C	A88436474C	ZNF469	NM_001367624.2(ZNF469):c.9004A>C:p.Met3002Leu	coding	Benign/Likely_benign
16	88436631	A	C	A88436631C	ZNF469	NM_001367624.2(ZNF469):c.9161A>C:p.Glu3054Ala	coding	Benign/Likely_benign
16	88437025	C	G	C88437025G	ZNF469	NM_001367624.2(ZNF469):c.9555C>G:p.Ala3185=	coding	Benign/Likely_benign
16	88437370	C	A	C88437370A	ZNF469	NM_001367624.2(ZNF469):c.9900C>A:p.Gly3300=	coding	Benign/Likely_benign
16	88437475	C	T	C88437475T	ZNF469	NM_001367624.2(ZNF469):c.10005C>T:p.Pro3335_Ser3336=	coding	Benign
16	88437504	G	A	G88437504A	ZNF469	NM_001367624.2(ZNF469):c.10034G>A:p.Arg3345His	coding	Benign
16	88437795	G	C	G88437795C	ZNF469	NM_001367624.2(ZNF469):c.10325G>C:p.Arg3442Thr	coding	Benign/Likely_benign
16	88437797	G	C	G88437797C	ZNF469	NM_001367624.2(ZNF469):c.10327G>C:p.Gly3443Arg	coding	Benign/Likely_benign
16	88437831	G	A	G88437831A	ZNF469	NM_001367624.2(ZNF469):c.10361G>A:p.Arg3454Gln	coding	Benign/Likely_benign
16	88437942	C	G	C88437942G	ZNF469	NM_001367624.2(ZNF469):c.10472C>G:p.Pro3491Arg	coding	Benign/Likely_benign
16	88437988	G	A	G88437988A	ZNF469	NM_001367624.2(ZNF469):c.10518G>A:p.Pro3506=	coding	Benign/Likely_benign
16	88438126	G	A	G88438126A	ZNF469	NM_001367624.2(ZNF469):c.10656G>A:p.Pro3552=	coding	Benign/Likely_benign
16	88438325	G	A	G88438325A	ZNF469	NM_001367624.2(ZNF469):c.10855G>A:p.Val3619Met	coding	Benign
16	88438607	C	T	C88438607T	ZNF469	NM_001367624.2(ZNF469):c.11137C>T:p.Arg3713Cys	coding	Benign/Likely_benign
16	88438714	C	T	C88438714T	ZNF469	NM_001367624.2(ZNF469):c.11244C>T:p.Ser3748=	coding	Benign/Likely_benign
16	88438876	C	A	C88438876A	ZNF469	NM_001367624.2(ZNF469):c.11406C>A:p.His3802Gln	coding	Benign/Likely_benign
16	88439038	C	T	C88439038T	ZNF469	NM_001367624.2(ZNF469):c.11568C>T:p.Arg3856=	coding	Benign/Likely_benign
16	88439184	C	A	C88439184A	ZNF469	NM_001367624.2(ZNF469):c.11714C>A:p.Pro3905His	coding	Benign
16	88439378	C	A	C88439378A	ZNF469	NM_001367624.2(ZNF469):c.*46C>A	noncoding	Benign/Likely_benign
16	88485962	A	G	A88485962G	ZFPM1	NM_153813.3(ZFPM1):c.64A>G:p.Arg22Gly	coding	Benign
16	88643304	A	G	A88643304G	CYBA	NM_000101.4(CYBA):c.*49T>C	noncoding	Benign
16	88643329	C	T	C88643329T	CYBA	NM_000101.4(CYBA):c.*24G>A	noncoding	Benign
16	88643620	C	T	C88643620T	CYBA	NM_000101.4(CYBA):c.370-49G>A	noncoding	Benign
16	88643621	C	T	C88643621T	CYBA	NM_000101.4(CYBA):c.370-50G>A	noncoding	Benign
16	88643687	G	A	G88643687A	CYBA	NM_000101.4(CYBA):c.370-116C>T	noncoding	Benign
16	88645911	T	C	T88645911C	CYBA	NM_000101.4(CYBA):c.369+205A>G	noncoding	Benign
16	88646359	A	G	A88646359G	CYBA	NM_000101.4(CYBA):c.288-162T>C	noncoding	Benign
16	88646372	A	C	A88646372C	CYBA	NM_000101.4(CYBA):c.288-175T>G	noncoding	Benign
16	88646374	A	G	A88646374G	CYBA	NM_000101.4(CYBA):c.288-177T>C	noncoding	Benign
16	88646753	A	G	A88646753G	CYBA	NM_000101.4(CYBA):c.287+2T>C	noncoding	Pathogenic
16	88647065	G	A	G88647065A	CYBA	NM_000101.4(CYBA):c.203+36C>T	noncoding	Benign
16	88648062	G	C	G88648062C	CYBA	NM_000101.4(CYBA):c.111C>G:p.Tyr37Ter	coding	Pathogenic
16	88648151	C	T	C88648151T	CYBA	NM_000101.4(CYBA):c.59-37G>A	noncoding	Benign
16	88648402	C	T	C88648402T	CYBA	NM_000101.4(CYBA):c.59-288G>A	noncoding	Benign
16	88650666	G	A	G88650666A	CYBA	NM_000101.4(CYBA):c.58+290C>T	noncoding	Benign
16	88650877	T	C	T88650877C	CYBA	NM_000101.4(CYBA):c.58+79A>G	noncoding	Benign
16	88650978	T	C	T88650978C	CYBA	NM_000101.4(CYBA):c.36A>G:p.Glu12=	coding	Benign
16	88650997	C	T	C88650997T	CYBA	NM_000101.4(CYBA):c.17G>A:p.Trp6Ter	coding	Pathogenic
16	88651688	A	T	A88651688T	CYBA	NC_000016.9:g.88718096A>T	noncoding	Benign
16	88651945	C	T	C88651945T	CYBA	NM_002461.3(MVD):c.*580G>A	noncoding	Benign
16	88654691	C	A	C88654691A	MVD	NM_002461.3(MVD):c.1013+1G>T	noncoding	Pathogenic
16	88657939	G	T	G88657939T	MVD	NM_002461.3(MVD):c.232C>A:p.Arg78=	coding	Benign
16	88706555	G	A	G88706555A	CTU2	NM_001012759.3(CTU2):c.25G>A:p.Gly9Arg	coding	Benign
16	88707117	C	T	C88707117T	CTU2	NM_001012759.3(CTU2):c.69-19C>T	noncoding	Benign
16	88707120	C	A	C88707120A	CTU2	NM_001012759.3(CTU2):c.69-16C>A	noncoding	Benign
16	88710300	C	T	C88710300T	CTU2	NM_001012759.3(CTU2):c.282+18C>T	noncoding	Benign
16	88712207	G	A	G88712207A	CTU2	NM_001012759.3(CTU2):c.344-67G>A	noncoding	Benign
16	88712624	G	C	G88712624C	CTU2	NM_001012759.3(CTU2):c.456G>C:p.Val152=	coding	Benign
16	88712724	C	T	C88712724T	CTU2	NM_001012759.3(CTU2):c.556C>T:p.His186Tyr	coding	Benign
16	88712784	C	G	C88712784G	CTU2	NM_001012759.3(CTU2):c.616C>G:p.Pro206Ala	coding	Benign
16	88713331	A	G	A88713331G	CTU2	NM_001012759.3(CTU2):c.757A>G:p.Met253Val	coding	Benign
16	88713345	C	T	C88713345T	CTU2	NM_001012759.3(CTU2):c.771C>T:p.His257=	coding	Benign
16	88713457	G	A	G88713457A	CTU2	NM_001012759.3(CTU2):c.873+10G>A	noncoding	Benign
16	88713682	G	A	G88713682A	CTU2	NM_001012759.3(CTU2):c.909G>A:p.Val303=	coding	Benign
16	88713767	G	A	G88713767A	CTU2	NM_001012759.3(CTU2):c.994G>A:p.Val332Ile	coding	Benign
16	88714110	A	G	A88714110G	CTU2	NM_001012759.3(CTU2):c.1006-26A>G	noncoding	Benign
16	88714195	C	G	C88714195G	CTU2	NM_001012759.3(CTU2):c.1065C>G:p.Thr355=	coding	Benign
16	88714515	C	G	C88714515G	CTU2	NM_001012759.3(CTU2):c.1201+29C>G	noncoding	Benign
16	88714632	A	G	A88714632G	CTU2	NM_001012759.3(CTU2):c.1247A>G:p.Gln416Arg	coding	Benign
16	88714665	G	A	G88714665A	CTU2	NM_001012759.3(CTU2):c.1280G>A:p.Arg427Gln	coding	Benign
16	88714717	T	C	T88714717C	CTU2	NM_001012759.3(CTU2):c.1332T>C:p.Cys444=	coding	Benign
16	88714906	C	T	C88714906T	CTU2	NM_001012759.3(CTU2):c.1399C>T:p.Arg467Cys	coding	Benign
16	88715011	A	G	A88715011G	CTU2;PIEZO1	NM_001012759.3(CTU2):c.1420-37A>G	noncoding	Benign
16	88715053	A	G	A88715053G	CTU2	NM_001012759.3(CTU2):c.1425A>G:p.Ser475=	coding	Benign
16	88715126	C	T	C88715126T	CTU2;PIEZO1	NM_001012759.3(CTU2):c.1478+20C>T	noncoding	Benign
16	88715150	G	A	G88715150A	PIEZO1	NM_001012759.3(CTU2):c.1479-32G>A	noncoding	Benign
16	88715206	G	C	G88715206C	PIEZO1;CTU2	NM_001012759.3(CTU2):c.1503G>C:p.Arg501=	coding	Benign
16	88715383	A	C	A88715383C	PIEZO1	NM_001142864.4(PIEZO1):c.*222T>G	noncoding	Benign
16	88715442	C	T	C88715442T	PIEZO1	NM_001142864.4(PIEZO1):c.*163G>A	noncoding	Benign
16	88716656	G	T	G88716656T	PIEZO1	NM_001142864.4(PIEZO1):c.6829C>A:p.Leu2277Met	coding	Benign/Likely_benign
16	88716966	A	G	A88716966G	PIEZO1	NM_001142864.4(PIEZO1):c.6660+57T>C	noncoding	Benign
16	88717010	C	A	C88717010A	PIEZO1	NM_001142864.4(PIEZO1):c.6660+13G>T	noncoding	Benign
16	88717067	G	A	G88717067A	PIEZO1	NM_001142864.4(PIEZO1):c.6616C>T:p.Gln2206Ter	coding	Pathogenic
16	88717330	A	G	A88717330G	PIEZO1	NM_001142864.4(PIEZO1):c.6472-119T>C	noncoding	Benign
16	88717495	A	G	A88717495G	PIEZO1	NM_001142864.4(PIEZO1):c.6472-284T>C	noncoding	Benign
16	88717501	C	T	C88717501T	PIEZO1	NM_001142864.4(PIEZO1):c.6472-290G>A	noncoding	Benign
16	88719571	C	T	C88719571T	PIEZO1	NM_001142864.4(PIEZO1):c.6471+3G>A	noncoding	Benign
16	88720059	G	A	G88720059A	PIEZO1	NM_001142864.4(PIEZO1):c.6164+10C>T	noncoding	Benign/Likely_benign
16	88720451	A	G	A88720451G	PIEZO1	NM_001142864.4(PIEZO1):c.5883T>C:p.Tyr1961=	coding	Benign/Likely_benign
16	88720460	G	A	G88720460A	PIEZO1	NM_001142864.4(PIEZO1):c.5874C>T:p.Thr1958=	coding	Benign/Likely_benign
16	88720559	C	T	C88720559T	PIEZO1	NM_001142864.4(PIEZO1):c.5802-27G>A	noncoding	Benign
16	88720980	C	T	C88720980T	PIEZO1	NM_001142864.4(PIEZO1):c.5668+186G>A	noncoding	Benign
16	88721431	C	G	C88721431G	PIEZO1	NM_001142864.4(PIEZO1):c.5404-1G>C	coding	Pathogenic
16	88721652	G	C	G88721652C	PIEZO1	NM_001142864.4(PIEZO1):c.5289C>G:p.Tyr1763Ter	coding	Pathogenic/Likely_pathogenic
16	88721827	G	A	G88721827A	PIEZO1	NM_001142864.4(PIEZO1):c.5195C>T:p.Thr1732Met	coding	Benign/Likely_benign
16	88722127	T	C	T88722127C	PIEZO1	NM_001142864.4(PIEZO1):c.4956-61A>G	noncoding	Benign
16	88722136	G	A	G88722136A	PIEZO1	NM_001142864.4(PIEZO1):c.4956-70C>T	noncoding	Benign
16	88722153	T	C	T88722153C	PIEZO1	NM_001142864.4(PIEZO1):c.4955+65A>G	noncoding	Benign
16	88722210	G	A	G88722210A	PIEZO1	NM_001142864.4(PIEZO1):c.4955+8C>T	noncoding	Benign/Likely_benign
16	88722495	T	G	T88722495G	PIEZO1	NM_001142864.4(PIEZO1):c.4775+88A>C	noncoding	Benign
16	88722526	A	G	A88722526G	PIEZO1	NM_001142864.4(PIEZO1):c.4775+57T>C	noncoding	Benign
16	88722530	G	A	G88722530A	PIEZO1	NM_001142864.4(PIEZO1):c.4775+53C>T	noncoding	Benign
16	88722552	C	A	C88722552A	PIEZO1	NM_001142864.4(PIEZO1):c.4775+31G>T	noncoding	Benign
16	88722770	G	A	G88722770A	PIEZO1	NM_001142864.4(PIEZO1):c.4668+67C>T	noncoding	Benign
16	88722791	G	A	G88722791A	PIEZO1	NM_001142864.4(PIEZO1):c.4668+46C>T	noncoding	Benign
16	88723091	G	A	G88723091A	PIEZO1	NM_001142864.4(PIEZO1):c.4495+4C>T	noncoding	Benign/Likely_benign
16	88723166	C	A	C88723166A	PIEZO1	NM_001142864.4(PIEZO1):c.4439-15G>T	noncoding	Benign/Likely_benign
16	88723739	G	T	G88723739T	PIEZO1	NM_001142864.4(PIEZO1):c.4335+132C>A	noncoding	Benign
16	88724794	T	C	T88724794C	PIEZO1	NM_001142864.4(PIEZO1):c.4234+215A>G	noncoding	Benign
16	88724853	A	G	A88724853G	PIEZO1	NM_001142864.4(PIEZO1):c.4234+156T>C	noncoding	Benign
16	88725117	A	C	A88725117C	PIEZO1	NM_001142864.4(PIEZO1):c.4163-37T>G	noncoding	Benign
16	88725289	T	C	T88725289C	PIEZO1	NM_001142864.4(PIEZO1):c.4162+127A>G	noncoding	Benign
16	88725295	G	A	G88725295A	PIEZO1	NM_001142864.4(PIEZO1):c.4162+121C>T	noncoding	Benign
16	88725299	A	G	A88725299G	PIEZO1	NM_001142864.4(PIEZO1):c.4162+117T>C	noncoding	Benign
16	88725355	G	A	G88725355A	PIEZO1	NM_001142864.4(PIEZO1):c.4162+61C>T	noncoding	Benign
16	88725429	G	A	G88725429A	PIEZO1	NM_001142864.4(PIEZO1):c.4149C>T:p.Pro1383=	coding	Benign
16	88726439	G	A	G88726439A	PIEZO1	NM_001142864.4(PIEZO1):c.3813C>T:p.Asp1271=	coding	Benign/Likely_benign
16	88726487	C	G	C88726487G	PIEZO1	NM_001142864.4(PIEZO1):c.3797-32G>C	noncoding	Benign
16	88726525	C	T	C88726525T	PIEZO1	NM_001142864.4(PIEZO1):c.3796+22G>A	noncoding	Benign
16	88726531	C	T	C88726531T	PIEZO1	NM_001142864.4(PIEZO1):c.3796+16G>A	noncoding	Benign
16	88726682	A	G	A88726682G	PIEZO1	NM_001142864.4(PIEZO1):c.3699+33T>C	noncoding	Benign
16	88726695	C	G	C88726695G	PIEZO1	NM_001142864.4(PIEZO1):c.3699+20G>C	noncoding	Benign
16	88727213	C	T	C88727213T	PIEZO1	NM_001142864.4(PIEZO1):c.3302-21G>A	noncoding	Benign
16	88727224	A	G	A88727224G	PIEZO1	NM_001142864.4(PIEZO1):c.3302-32T>C	noncoding	Benign
16	88727378	T	C	T88727378C	PIEZO1	NM_001142864.4(PIEZO1):c.3301+179A>G	noncoding	Benign
16	88727386	A	C	A88727386C	PIEZO1	NM_001142864.4(PIEZO1):c.3301+171T>G	noncoding	Benign
16	88727403	C	T	C88727403T	PIEZO1	NM_001142864.4(PIEZO1):c.3301+154G>A	noncoding	Benign
16	88727405	T	C	T88727405C	PIEZO1	NM_001142864.4(PIEZO1):c.3301+152A>G	noncoding	Benign
16	88727415	C	T	C88727415T	PIEZO1	NM_001142864.4(PIEZO1):c.3301+142G>A	noncoding	Benign
16	88727435	C	T	C88727435T	PIEZO1	NM_001142864.4(PIEZO1):c.3301+122G>A	noncoding	Benign
16	88727450	C	T	C88727450T	PIEZO1	NM_001142864.4(PIEZO1):c.3301+107G>A	noncoding	Benign
16	88727464	T	C	T88727464C	PIEZO1	NM_001142864.4(PIEZO1):c.3301+93A>G	noncoding	Benign
16	88727502	C	T	C88727502T	PIEZO1	NM_001142864.4(PIEZO1):c.3301+55G>A	noncoding	Benign
16	88727540	T	G	T88727540G	PIEZO1	NM_001142864.4(PIEZO1):c.3301+17A>C	noncoding	Benign
16	88727797	G	C	G88727797C	PIEZO1	NM_001142864.4(PIEZO1):c.3197-136C>G	noncoding	Benign
16	88727905	G	A	G88727905A	PIEZO1	NM_001142864.4(PIEZO1):c.3197-244C>T	noncoding	Benign
16	88727995	G	A	G88727995A	PIEZO1	NM_001142864.4(PIEZO1):c.3197-334C>T	noncoding	Benign
16	88731518	A	G	A88731518G	PIEZO1	NM_001142864.4(PIEZO1):c.3196+188T>C	noncoding	Benign
16	88731574	G	C	G88731574C	PIEZO1	NM_001142864.4(PIEZO1):c.3196+132C>G	noncoding	Benign
16	88731687	C	A	C88731687A	LOC100289580;PIEZO1	NM_001142864.4(PIEZO1):c.3196+19G>T	noncoding	Benign
16	88731933	T	C	T88731933C	PIEZO1	NM_001142864.4(PIEZO1):c.2992-23A>G	noncoding	Benign
16	88732110	G	C	G88732110C	PIEZO1	NM_001142864.4(PIEZO1):c.2992-200C>G	noncoding	Benign
16	88732194	G	A	G88732194A	PIEZO1	NM_001142864.4(PIEZO1):c.2991+141C>T	noncoding	Benign
16	88732217	C	T	C88732217T	PIEZO1	NM_001142864.4(PIEZO1):c.2991+118G>A	noncoding	Benign
16	88732310	G	A	G88732310A	PIEZO1	NM_001142864.4(PIEZO1):c.2991+25C>T	noncoding	Benign
16	88732323	T	C	T88732323C	PIEZO1	NM_001142864.4(PIEZO1):c.2991+12A>G	noncoding	Benign
16	88732466	G	T	G88732466T	LOC100289580;PIEZO1	NM_001142864.4(PIEZO1):c.2860C>A:p.Arg954=	coding	Benign
16	88732830	T	C	T88732830C	PIEZO1	NM_001142864.4(PIEZO1):c.2665-98A>G	noncoding	Benign
16	88732880	G	A	G88732880A	PIEZO1	NM_001142864.4(PIEZO1):c.2665-148C>T	noncoding	Benign
16	88732894	G	C	G88732894C	PIEZO1	NM_001142864.4(PIEZO1):c.2665-162C>G	noncoding	Benign
16	88732925	G	A	G88732925A	PIEZO1	NM_001142864.4(PIEZO1):c.2665-193C>T	noncoding	Benign
16	88732930	G	A	G88732930A	PIEZO1	NM_001142864.4(PIEZO1):c.2665-198C>T	noncoding	Benign
16	88733009	G	C	G88733009C	PIEZO1	NM_001142864.4(PIEZO1):c.2664+269C>G	noncoding	Benign
16	88733076	T	G	T88733076G	PIEZO1	NM_001142864.4(PIEZO1):c.2664+202A>C	noncoding	Benign
16	88733266	G	C	G88733266C	PIEZO1	NM_001142864.4(PIEZO1):c.2664+12C>G	noncoding	Benign
16	88733768	G	T	G88733768T	PIEZO1	NM_001142864.4(PIEZO1):c.2330-23C>A	noncoding	Benign
16	88733887	C	T	C88733887T	PIEZO1	NM_001142864.4(PIEZO1):c.2329+19G>A	noncoding	Benign
16	88734069	G	A	G88734069A	PIEZO1	NM_001142864.4(PIEZO1):c.2181-15C>T	noncoding	Benign
16	88734193	T	C	T88734193C	PIEZO1	NM_001142864.4(PIEZO1):c.2181-139A>G	noncoding	Benign
16	88734202	G	T	G88734202T	PIEZO1	NM_001142864.4(PIEZO1):c.2181-148C>A	noncoding	Benign
16	88734262	G	C	G88734262C	PIEZO1	NM_001142864.4(PIEZO1):c.2180+94C>G	noncoding	Benign
16	88734285	C	T	C88734285T	PIEZO1	NM_001142864.4(PIEZO1):c.2180+71G>A	noncoding	Benign
16	88734377	C	T	C88734377T	PIEZO1	NM_001142864.4(PIEZO1):c.2159G>A:p.Arg720His	coding	Benign
16	88734406	G	A	G88734406A	PIEZO1	NM_001142864.4(PIEZO1):c.2130C>T:p.Asp710=	coding	Benign
16	88734594	C	T	C88734594T	PIEZO1	NM_001142864.4(PIEZO1):c.1997+56G>A	noncoding	Benign
16	88734618	G	A	G88734618A	PIEZO1	NM_001142864.4(PIEZO1):c.1997+32C>T	noncoding	Benign
16	88734931	C	T	C88734931T	PIEZO1	NM_001142864.4(PIEZO1):c.1792G>A:p.Val598Met	coding	Pathogenic/Likely_pathogenic
16	88735362	G	A	G88735362A	PIEZO1	NM_001142864.4(PIEZO1):c.1558-116C>T	noncoding	Benign
16	88735840	G	A	G88735840A	PIEZO1	NM_001142864.4(PIEZO1):c.1557+308C>T	noncoding	Benign
16	88736065	C	T	C88736065T	PIEZO1	NM_001142864.4(PIEZO1):c.1557+83G>A	noncoding	Benign
16	88736086	G	A	G88736086A	PIEZO1	NM_001142864.4(PIEZO1):c.1557+62C>T	noncoding	Benign
16	88736103	G	T	G88736103T	PIEZO1	NM_001142864.4(PIEZO1):c.1557+45C>A	noncoding	Benign
16	88736132	G	C	G88736132C	PIEZO1	NM_001142864.4(PIEZO1):c.1557+16C>G	noncoding	Benign
16	88736165	G	A	G88736165A	PIEZO1	NM_001142864.4(PIEZO1):c.1540C>T:p.Leu514=	coding	Benign
16	88736324	G	A	G88736324A	PIEZO1	NM_001142864.4(PIEZO1):c.1381C>T:p.Gln461Ter	coding	Pathogenic
16	88736340	C	T	C88736340T	PIEZO1	NM_001142864.4(PIEZO1):c.1365G>A:p.Thr455=	coding	Benign
16	88736422	A	G	A88736422G	PIEZO1	NM_001142864.4(PIEZO1):c.1297-14T>C	noncoding	Benign/Likely_benign
16	88736424	G	A	G88736424A	PIEZO1	NM_001142864.4(PIEZO1):c.1297-16C>T	noncoding	Benign
16	88736684	G	A	G88736684A	PIEZO1	NM_001142864.4(PIEZO1):c.1251C>T:p.His417=	coding	Benign/Likely_benign
16	88736728	G	A	G88736728A	PIEZO1	NM_001142864.4(PIEZO1):c.1207C>T:p.Arg403Trp	coding	Benign
16	88736756	C	T	C88736756T	PIEZO1	NM_001142864.4(PIEZO1):c.1196-17G>A	noncoding	Benign
16	88736787	T	C	T88736787C	PIEZO1	NM_001142864.4(PIEZO1):c.1196-48A>G	noncoding	Benign
16	88737092	G	C	G88737092C	PIEZO1	NM_001142864.4(PIEZO1):c.1196-353C>G	noncoding	Benign
16	88737526	A	C	A88737526C	PIEZO1	NM_001142864.4(PIEZO1):c.1195+33T>G	noncoding	Benign
16	88737575	G	C	G88737575C	PIEZO1	NM_001142864.4(PIEZO1):c.1179C>G:p.Ser393=	coding	Benign/Likely_benign
16	88738210	G	A	G88738210A	PIEZO1	NM_001142864.4(PIEZO1):c.848+17C>T	coding	Benign
16	88738310	G	A	G88738310A	LOC100289580;PIEZO1	NM_001142864.4(PIEZO1):c.765C>T:p.Phe255=	coding	Benign
16	88738775	G	A	G88738775A	PIEZO1	NM_001142864.4(PIEZO1):c.466-39C>T	coding	Benign
16	88738823	G	A	G88738823A	PIEZO1	NM_001142864.4(PIEZO1):c.466-87C>T	coding	Benign
16	88738828	G	A	G88738828A	PIEZO1	NM_001142864.4(PIEZO1):c.466-92C>T	coding	Benign
16	88738848	C	A	C88738848A	PIEZO1	NM_001142864.4(PIEZO1):c.466-112G>T	coding	Benign
16	88738874	C	T	C88738874T	PIEZO1	NM_001142864.4(PIEZO1):c.466-138G>A	coding	Benign
16	88741200	A	G	A88741200G	PIEZO1	NM_001142864.4(PIEZO1):c.465+278T>C	coding	Benign
16	88741235	G	A	G88741235A	PIEZO1	NM_001142864.4(PIEZO1):c.465+243C>T	coding	Benign
16	88741322	C	T	C88741322T	PIEZO1	NM_001142864.4(PIEZO1):c.465+156G>A	coding	Benign
16	88741377	G	A	G88741377A	PIEZO1	NM_001142864.4(PIEZO1):c.465+101C>T	coding	Benign
16	88741454	C	T	C88741454T	PIEZO1	NM_001142864.4(PIEZO1):c.465+24G>A	noncoding	Benign
16	88742072	G	A	G88742072A	PIEZO1	NM_001142864.4(PIEZO1):c.307C>T:p.Arg103Ter	coding	Pathogenic
16	88742454	C	T	C88742454T	PIEZO1	NM_001142864.4(PIEZO1):c.161-32G>A	noncoding	Benign
16	88742464	G	A	G88742464A	PIEZO1	NM_001142864.4(PIEZO1):c.161-42C>T	noncoding	Benign
16	88742510	C	A	C88742510A	PIEZO1	NM_001142864.4(PIEZO1):c.161-88G>T	noncoding	Benign
16	88742615	C	G	C88742615G	PIEZO1	NM_001142864.4(PIEZO1):c.161-193G>C	noncoding	Benign
16	88742625	C	T	C88742625T	PIEZO1	NM_001142864.4(PIEZO1):c.161-203G>A	noncoding	Benign
16	88742633	C	G	C88742633G	PIEZO1	NM_001142864.4(PIEZO1):c.161-211G>C	noncoding	Benign
16	88742697	A	T	A88742697T	PIEZO1	NM_001142864.4(PIEZO1):c.161-275T>A	noncoding	Benign
16	88749496	G	C	G88749496C	PIEZO1	NM_001142864.4(PIEZO1):c.65-17C>G	noncoding	Benign
16	88749633	T	C	T88749633C	PIEZO1	NM_001142864.4(PIEZO1):c.65-154A>G	noncoding	Benign
16	88784632	C	T	C88784632T	PIEZO1	NM_001142864.4(PIEZO1):c.64+269G>A	noncoding	Benign
16	88785151	A	T	A88785151T	PIEZO1	NM_001142864.4(PIEZO1):c.-187T>A	noncoding	Benign
16	88785260	T	G	T88785260G	PIEZO1	Single_allele	noncoding	Benign
16	88803534	C	A	C88803534A	CDT1	Single_allele	noncoding	Benign
16	88803626	C	G	C88803626G	CDT1	Single_allele	noncoding	Benign
16	88803691	T	C	T88803691C	CDT1	Single_allele	noncoding	Benign
16	88803697	C	A	C88803697A	CDT1	Single_allele	noncoding	Benign
16	88804532	T	A	T88804532A	CDT1	NM_030928.4(CDT1):c.229-13T>A	noncoding	Benign
16	88804667	G	C	G88804667C	CDT1	NM_030928.4(CDT1):c.351G>C:p.Gln117His	coding	Pathogenic
16	88804963	G	A	G88804963A	CDT1	NM_030928.4(CDT1):c.488+65G>A	noncoding	Benign
16	88805543	C	T	C88805543T	CDT1	NM_030928.4(CDT1):c.592C>T:p.Arg198Cys	coding	Benign
16	88806002	G	C	G88806002C	CDT1	NM_030928.4(CDT1):c.833-19G>C	noncoding	Benign
16	88806043	G	A	G88806043A	CDT1	NM_030928.4(CDT1):c.855G>A:p.Gln285=	coding	Benign/Likely_benign
16	88806223	G	A	G88806223A	CDT1	NM_030928.4(CDT1):c.933+102G>A	noncoding	Benign
16	88806428	T	C	T88806428C	CDT1	NM_030928.4(CDT1):c.934-58T>C	noncoding	Benign
16	88806685	G	A	G88806685A	CDT1	NM_030928.4(CDT1):c.1122+11G>A	noncoding	Benign
16	88807006	C	A	C88807006A	CDT1	NM_030928.4(CDT1):c.1123-45C>A	noncoding	Benign
16	88807257	A	G	A88807257G	CDT1	NM_030928.4(CDT1):c.1276-24A>G	noncoding	Pathogenic
16	88807259	C	T	C88807259T	CDT1	NM_030928.4(CDT1):c.1276-22C>T	noncoding	Benign
16	88807534	G	A	G88807534A	CDT1	NM_030928.4(CDT1):c.1477+52G>A	noncoding	Benign
16	88807979	T	A	T88807979A	CDT1	NM_030928.4(CDT1):c.1478-136T>A	noncoding	Benign
16	88808321	C	G	C88808321G	CDT1	NM_030928.4(CDT1):c.*43C>G	noncoding	Benign
16	88808370	C	T	C88808370T	CDT1	NM_030928.4(CDT1):c.*92C>T	noncoding	Benign
16	88808479	G	A	G88808479A	CDT1	NM_030928.4(CDT1):c.*201G>A	noncoding	Benign
16	88808523	C	T	C88808523T	CDT1	NM_030928.4(CDT1):c.*245C>T	noncoding	Benign
16	88808580	G	A	G88808580A	CDT1	NM_030928.4(CDT1):c.*302G>A	noncoding	Benign
16	88809429	G	T	G88809429T	APRT	NM_000485.3(APRT):c.*269C>A	noncoding	Benign
16	88809695	T	C	T88809695C	APRT;GALNS	NM_000485.3(APRT):c.*3A>G	noncoding	Benign/Likely_benign
16	88809698	T	A	T88809698A	APRT	NM_000485.3(APRT):c.543A>T:p.Ter181Cys	coding	Pathogenic
16	88809700	A	G	A88809700G	APRT	NM_000485.3(APRT):c.541T>C:p.Ter181Arg	coding	Pathogenic
16	88809709	G	A	G88809709A	APRT	NM_000485.3(APRT):c.532C>T:p.Gln178Ter	coding	Pathogenic
16	88809715	G	A	G88809715A	APRT	NM_000485.3(APRT):c.526C>T:p.Leu176Phe	coding	Pathogenic
16	88809750	C	T	C88809750T	APRT	NM_000485.3(APRT):c.491G>A:p.Gly164Asp	coding	Pathogenic
16	88809784	A	G	A88809784G	APRT	NM_000485.3(APRT):c.457T>C:p.Cys153Arg	coding	Pathogenic
16	88809802	G	A	G88809802A	APRT	NM_000485.3(APRT):c.439C>T:p.Gln147Ter	coding	Pathogenic
16	88809813	A	G	A88809813G	APRT	NM_000485.3(APRT):c.428T>C:p.Leu143Pro	coding	Pathogenic
16	88810067	T	A	T88810067A	APRT	NM_000485.3(APRT):c.400+3A>T	noncoding	Pathogenic
16	88810069	C	A	C88810069A	APRT	NM_000485.3(APRT):c.400+1G>T	noncoding	Pathogenic
16	88810072	C	T	C88810072T	APRT	NM_000485.3(APRT):c.398G>A:p.Gly133Asp	coding	Pathogenic
16	88810090	T	C	T88810090C	APRT	NM_000485.3(APRT):c.380A>G:p.Asp127Gly	coding	Pathogenic
16	88810099	A	C	A88810099C	APRT	NM_000485.3(APRT):c.371T>G:p.Val124Gly	coding	Pathogenic
16	88810111	C	A	C88810111A	APRT	NM_000485.3(APRT):c.359G>T:p.Gly120Val	coding	Pathogenic
16	88810118	C	G	C88810118G	APRT	NM_000485.3(APRT):c.352G>C:p.Glu118Gln	coding	Pathogenic
16	88810136	T	A	T88810136A	APRT	NM_000485.3(APRT):c.334A>T:p.Ile112Phe	coding	Pathogenic
16	88810212	G	C	G88810212C	APRT	NM_000485.3(APRT):c.322-64C>G	noncoding	Benign
16	88810258	C	G	C88810258G	APRT	NM_000485.3(APRT):c.322-110G>C	noncoding	Benign
16	88810433	T	C	T88810433C	APRT	NM_000485.3(APRT):c.311A>G:p.Glu104Gly	coding	Pathogenic
16	88810434	C	A	C88810434A	APRT	NM_000485.3(APRT):c.310G>T:p.Glu104Ter	coding	Pathogenic
16	88810480	C	A	C88810480A	APRT	NM_000485.3(APRT):c.264G>T:p.Lys88Asn	coding	Pathogenic
16	88810485	G	A	G88810485A	APRT	NM_000485.3(APRT):c.259C>T:p.Arg87Ter	coding	Pathogenic
16	88810494	C	T	C88810494T	APRT	NM_000485.3(APRT):c.250G>A:p.Val84Met	coding	Pathogenic
16	88810517	G	A	G88810517A	APRT	NM_000485.3(APRT):c.227C>T:p.Ala76Val	coding	Pathogenic
16	88810544	C	T	C88810544T	APRT	NM_000485.3(APRT):c.200G>A:p.Arg67Gln	coding	Pathogenic/Likely_pathogenic
16	88810545	G	A	G88810545A	APRT	NM_000485.3(APRT):c.199C>T:p.Arg67Ter	coding	Pathogenic
16	88810556	C	T	C88810556T	APRT	NM_000485.3(APRT):c.188G>A:p.Gly63Asp	coding	Pathogenic
16	88810559	G	C	G88810559C	APRT	NM_000485.3(APRT):c.188-3C>G	noncoding	Pathogenic
16	88810596	A	G	A88810596G	APRT	NM_000485.3(APRT):c.188-40T>C	noncoding	Benign
16	88810716	G	A	G88810716A	APRT	NM_000485.3(APRT):c.188-160C>T	noncoding	Benign
16	88811577	G	C	G88811577C	APRT	NM_000485.3(APRT):c.160C>G:p.His54Asp	coding	Pathogenic
16	88811618	C	G	C88811618G	APRT	NM_000485.3(APRT):c.119G>C:p.Arg40Pro	coding	Pathogenic
16	88811639	A	G	A88811639G	APRT	NM_000485.3(APRT):c.98T>C:p.Leu33Pro	coding	Pathogenic
16	88811640	G	A	G88811640A	APRT;GALNS	NM_000485.3(APRT):c.97C>T:p.Leu33=	coding	Benign/Likely_benign
16	88811655	C	G	C88811655G	APRT	NM_000485.3(APRT):c.82G>C:p.Asp28His	coding	Pathogenic
16	88811658	T	C	T88811658C	APRT	NM_000485.3(APRT):c.81-2A>G	noncoding	Pathogenic
16	88811659	G	C	G88811659C	APRT	NM_000485.3(APRT):c.81-3C>G	noncoding	Pathogenic
16	88811768	C	A	C88811768A	APRT	NM_000485.3(APRT):c.80+52G>T	noncoding	Benign
16	88811897	C	T	C88811897T	APRT	NM_000485.3(APRT):c.3G>A:p.Met1Ile	coding	Pathogenic
16	88811898	A	G	A88811898G	APRT	NM_000485.3(APRT):c.2T>C:p.Met1Thr	coding	Pathogenic
16	88811899	T	C	T88811899C	APRT	NM_000485.3(APRT):c.1A>G:p.Met1Val	coding	Pathogenic
16	88811949	G	T	G88811949T	APRT;GALNS	NM_000485.2(APRT):c.-50C>A	noncoding	Benign/Likely_benign
16	88817408	G	A	G88817408A	GALNS	NM_000512.5(GALNS):c.1482+599C>T	noncoding	Benign
16	88817726	G	A	G88817726A	GALNS	NM_000512.5(GALNS):c.1482+281C>T	noncoding	Benign
16	88817886	A	C	A88817886C	GALNS	NM_000512.5(GALNS):c.1482+121T>G	noncoding	Benign
16	88818069	G	A	G88818069A	GALNS	NM_000512.5(GALNS):c.1420C>T:p.Gln474Ter	coding	Pathogenic
16	88818125	C	G	C88818125G	GALNS	NM_000512.5(GALNS):c.1365-1G>C	coding	Pathogenic
16	88818253	T	C	T88818253C	GALNS	NM_000512.5(GALNS):c.1365-129A>G	noncoding	Benign
16	88818367	G	A	G88818367A	GALNS	NM_000512.5(GALNS):c.1365-243C>T	noncoding	Benign
16	88818428	C	T	C88818428T	GALNS	NM_000512.5(GALNS):c.1365-304G>A	noncoding	Benign
16	88818434	A	G	A88818434G	GALNS	NM_000512.5(GALNS):c.1365-310T>C	noncoding	Benign
16	88822333	A	G	A88822333G	GALNS	NM_000512.5(GALNS):c.1364+256T>C	noncoding	Benign
16	88822689	G	A	G88822689A	GALNS	NM_000512.5(GALNS):c.1264C>T:p.Gln422Ter	coding	Pathogenic
16	88823019	T	C	T88823019C	GALNS	NM_000512.5(GALNS):c.1243-309A>G	noncoding	Benign
16	88824769	G	A	G88824769A	GALNS	NM_000512.5(GALNS):c.1240C>T:p.Gln414Ter	coding	Pathogenic
16	88824800	C	T	C88824800T	GALNS	NM_000512.5(GALNS):c.1209G>A:p.Trp403Ter	coding	Pathogenic
16	88824954	G	A	G88824954A	GALNS	NM_000512.5(GALNS):c.1140-85C>T	noncoding	Benign
16	88825030	G	T	G88825030T	GALNS	NM_000512.5(GALNS):c.1140-161C>A	noncoding	Benign
16	88825032	T	C	T88825032C	GALNS	NM_000512.5(GALNS):c.1140-163A>G	noncoding	Benign
16	88826721	G	A	G88826721A	GALNS	NM_000512.5(GALNS):c.1120C>T:p.Gln374Ter	coding	Pathogenic
16	88826829	G	A	G88826829A	GALNS	NM_000512.5(GALNS):c.1012C>T:p.Gln338Ter	coding	Pathogenic
16	88826880	G	A	G88826880A	GALNS	NM_000512.5(GALNS):c.1003-42C>T	noncoding	Benign/Likely_benign
16	88826965	C	T	C88826965T	GALNS	NM_000512.5(GALNS):c.1003-127G>A	noncoding	Benign
16	88832026	C	T	C88832026T	GALNS	NM_000512.5(GALNS):c.974G>A:p.Trp325Ter	coding	Pathogenic
16	88832102	C	G	C88832102G	GALNS	NM_000512.5(GALNS):c.899-1G>C	coding	Pathogenic
16	88835005	C	T	C88835005T	GALNS	NM_000512.5(GALNS):c.898+208G>A	noncoding	Benign
16	88835145	C	T	C88835145T	GALNS	NM_000512.5(GALNS):c.898+68G>A	noncoding	Benign
16	88835219	C	A	C88835219A	GALNS	NM_000512.5(GALNS):c.892G>T:p.Glu298Ter	coding	Pathogenic
16	88835227	G	A	G88835227A	GALNS	NM_000512.5(GALNS):c.884C>T:p.Ser295Phe	coding	Pathogenic/Likely_pathogenic
16	88835243	C	T	C88835243T	GALNS	NM_000512.5(GALNS):c.868G>A:p.Gly290Ser	coding	Pathogenic/Likely_pathogenic
16	88835294	G	A	G88835294A	GALNS	NM_000512.5(GALNS):c.817C>T:p.Gln273Ter	coding	Pathogenic
16	88835436	C	T	C88835436T	GALNS	NM_000512.5(GALNS):c.759-84G>A	noncoding	Benign
16	88835590	C	T	C88835590T	GALNS	NM_000512.5(GALNS):c.758+135G>A	noncoding	Benign
16	88835724	C	G	C88835724G	GALNS	NM_000512.5(GALNS):c.758+1G>C	noncoding	Pathogenic
16	88835724	C	T	C88835724T	GALNS	NM_000512.5(GALNS):c.758+1G>A	noncoding	Pathogenic
16	88835732	G	A	G88835732A	GALNS	NM_000512.5(GALNS):c.751C>T:p.Arg251Ter	coding	Pathogenic/Likely_pathogenic
16	88835764	T	C	T88835764C	GALNS	NM_000512.5(GALNS):c.719A>G:p.Tyr240Cys	coding	Pathogenic/Likely_pathogenic
16	88835786	C	T	C88835786T	GALNS	NM_000512.5(GALNS):c.697G>A:p.Asp233Asn	coding	Pathogenic/Likely_pathogenic
16	88835836	A	G	A88835836G	GALNS	NM_000512.5(GALNS):c.647T>C:p.Phe216Ser	coding	Pathogenic/Likely_pathogenic
16	88835974	G	A	G88835974A	GALNS	NM_000512.5(GALNS):c.634-125C>T	noncoding	Benign
16	88835979	A	G	A88835979G	GALNS	NM_000512.5(GALNS):c.634-130T>C	noncoding	Benign
16	88835983	T	C	T88835983C	GALNS	NM_000512.5(GALNS):c.634-134A>G	noncoding	Benign
16	88836203	G	A	G88836203A	GALNS	NM_000512.5(GALNS):c.631C>T:p.Gln211Ter	coding	Pathogenic
16	88836207	G	C	G88836207C	GALNS	NM_000512.5(GALNS):c.627C>G:p.Tyr209Ter	coding	Pathogenic
16	88836232	C	T	C88836232T	GALNS	NM_000512.5(GALNS):c.602G>A:p.Gly201Glu	coding	Pathogenic/Likely_pathogenic
16	88836268	C	A	C88836268A	GALNS	NM_000512.5(GALNS):c.567-1G>T	coding	Pathogenic
16	88837300	C	A	C88837300A	GALNS	NM_000512.5(GALNS):c.566+322G>T	noncoding	Benign
16	88837637	C	T	C88837637T	GALNS	NM_000512.5(GALNS):c.551G>A:p.Trp184Ter	coding	Pathogenic
16	88837686	C	T	C88837686T	GALNS	NM_000512.5(GALNS):c.502G>A:p.Gly168Arg	coding	Pathogenic/Likely_pathogenic
16	88837716	C	A	C88837716A	GALNS	NM_000512.5(GALNS):c.472G>T:p.Glu158Ter	coding	Pathogenic
16	88837722	A	G	A88837722G	GALNS	NM_000512.5(GALNS):c.466T>C:p.Phe156Leu	coding	Pathogenic/Likely_pathogenic
16	88837737	G	T	G88837737T	GALNS	NM_000512.5(GALNS):c.451C>A:p.Pro151Thr	coding	Pathogenic/Likely_pathogenic
16	88837746	G	A	G88837746A	GALNS	NM_000512.5(GALNS):c.442C>T:p.Gln148Ter	coding	Pathogenic
16	88838392	A	G	A88838392G	GALNS	NM_000512.5(GALNS):c.423-627T>C	noncoding	Benign
16	88838666	A	G	A88838666G	GALNS	NM_000512.5(GALNS):c.423-901T>C	noncoding	Benign
16	88840664	C	T	C88840664T	GALNS	NM_000512.5(GALNS):c.422+328G>A	noncoding	Benign
16	88840719	T	C	T88840719C	GALNS	NM_000512.5(GALNS):c.422+273A>G	noncoding	Benign
16	88840914	T	C	T88840914C	GALNS	NM_000512.5(GALNS):c.422+78A>G	noncoding	Benign
16	88840992	C	T	C88840992T	GALNS	NM_000512.5(GALNS):c.422G>A:p.Trp141Ter	coding	Pathogenic
16	88841038	C	A	C88841038A	GALNS	NM_000512.5(GALNS):c.376G>T:p.Glu126Ter	coding	Pathogenic
16	88841040	G	A	G88841040A	GALNS	NM_000512.5(GALNS):c.374C>T:p.Pro125Leu	coding	Pathogenic/Likely_pathogenic
16	88841067	C	A	C88841067A	GALNS	NM_000512.5(GALNS):c.347G>T:p.Gly116Val	coding	Pathogenic/Likely_pathogenic
16	88841095	C	A	C88841095A	GALNS	NM_000512.5(GALNS):c.320-1G>T	coding	Pathogenic/Likely_pathogenic
16	88841095	C	G	C88841095G	GALNS	NM_000512.5(GALNS):c.320-1G>C	coding	Pathogenic
16	88841935	C	A	C88841935A	GALNS	NM_000512.5(GALNS):c.281G>T:p.Arg94Leu	coding	Pathogenic/Likely_pathogenic
16	88842036	C	T	C88842036T	GALNS	NM_000512.5(GALNS):c.245-65G>A	noncoding	Benign
16	88842705	C	A	C88842705A	GALNS	NM_000512.5(GALNS):c.244+1G>T	noncoding	Pathogenic
16	88842715	A	G	A88842715G	GALNS	NM_000512.5(GALNS):c.235T>C:p.Cys79Arg	coding	Pathogenic/Likely_pathogenic
16	88842722	G	T	G88842722T	GALNS	NM_000512.5(GALNS):c.228C>A:p.Asn76Lys	coding	Pathogenic
16	88842769	G	A	G88842769A	GALNS	NM_000512.5(GALNS):c.181C>T:p.Arg61Trp	coding	Pathogenic/Likely_pathogenic
16	88842830	C	A	C88842830A	GALNS	NM_000512.5(GALNS):c.121-1G>T	coding	Pathogenic
16	88842830	C	T	C88842830T	GALNS	NM_000512.5(GALNS):c.121-1G>A	coding	Pathogenic
16	88843037	T	C	T88843037C	GALNS	NM_000512.5(GALNS):c.121-208A>G	noncoding	Benign
16	88856712	T	G	T88856712G	GALNS	NM_000512.5(GALNS):c.120+46A>C	noncoding	Benign
16	88856760	C	G	C88856760G	GALNS	NM_000512.5(GALNS):c.118G>C:p.Asp40His	coding	Pathogenic
16	88856793	G	A	G88856793A	GALNS	NM_000512.5(GALNS):c.85C>T:p.Gln29Ter	coding	Pathogenic
16	88856849	C	T	C88856849T	GALNS	NM_000512.5(GALNS):c.29G>A:p.Trp10Ter	coding	Pathogenic
16	88856877	T	A	T88856877A	GALNS	NM_000512.5(GALNS):c.1A>T:p.Met1Leu	coding	Pathogenic
16	88856969	A	G	A88856969G	GALNS	NM_001323543.1(GALNS):c.-523T>C	noncoding	Benign/Likely_benign
16	88857069	T	C	T88857069C	GALNS	Single_allele	noncoding	Benign
16	88857261	T	C	T88857261C	GALNS	NM_001318525.2(TRAPPC2L):c.33+78T>C	noncoding	Benign
16	88857286	C	T	C88857286T	GALNS	NM_001318525.2(TRAPPC2L):c.33+103C>T	noncoding	Benign
16	89093750	G	C	G89093750C	ACSF3	Single_allele	noncoding	Benign
16	89093755	G	A	G89093755A	ACSF3	Single_allele	noncoding	Benign
16	89093807	C	A	C89093807A	ACSF3	Single_allele	noncoding	Benign
16	89093875	C	G	C89093875G	ACSF3	NM_001243279.3(ACSF3):c.-315C>G	noncoding	Benign
16	89093921	C	G	C89093921G	ACSF3	NM_001243279.3(ACSF3):c.-269C>G	noncoding	Benign
16	89098566	C	A	C89098566A	ACSF3	NM_001243279.3(ACSF3):c.-193-25C>A	noncoding	Benign
16	89100399	A	G	A89100399G	ACSF3	NM_001243279.3(ACSF3):c.-20-263A>G	noncoding	Benign
16	89100424	G	A	G89100424A	ACSF3	NM_001243279.3(ACSF3):c.-20-238G>A	noncoding	Benign
16	89100533	C	T	C89100533T	ACSF3	NM_001243279.3(ACSF3):c.-20-129C>T	noncoding	Benign
16	89100580	G	A	G89100580A	ACSF3	NM_001243279.3(ACSF3):c.-20-82G>A	noncoding	Benign
16	89100641	C	A	C89100641A	ACSF3	NM_001243279.3(ACSF3):c.-20-21C>A	noncoding	Benign
16	89100658	C	G	C89100658G	ACSF3	NM_001243279.3(ACSF3):c.-20-4C>G	noncoding	Benign
16	89100919	C	T	C89100919T	ACSF3	NM_001243279.3(ACSF3):c.238C>T:p.Gln80Ter	coding	Pathogenic
16	89101029	G	A	G89101029A	ACSF3	NM_001243279.3(ACSF3):c.348G>A:p.Trp116Ter	coding	Pathogenic
16	89101257	G	A	G89101257A	ACSF3	NM_001243279.3(ACSF3):c.576G>A:p.Trp192Ter	coding	Pathogenic
16	89101264	A	T	A89101264T	ACSF3	NM_001243279.3(ACSF3):c.583A>T:p.Lys195Ter	coding	Pathogenic
16	89101384	C	T	C89101384T	ACSF3	NM_001243279.3(ACSF3):c.666+37C>T	noncoding	Benign
16	89101420	C	T	C89101420T	ACSF3	NM_001243279.3(ACSF3):c.666+73C>T	noncoding	Benign
16	89101542	G	A	G89101542A	ACSF3	NM_001243279.3(ACSF3):c.666+195G>A	noncoding	Benign
16	89101546	T	C	T89101546C	ACSF3	NM_001243279.3(ACSF3):c.666+199T>C	noncoding	Benign
16	89102315	C	T	C89102315T	ACSF3	NM_001243279.3(ACSF3):c.667-289C>T	noncoding	Benign
16	89102317	A	G	A89102317G	ACSF3	NM_001243279.3(ACSF3):c.667-287A>G	noncoding	Benign
16	89102503	T	C	T89102503C	ACSF3	NM_001243279.3(ACSF3):c.667-101T>C	noncoding	Benign
16	89102527	G	C	G89102527C	ACSF3	NM_001243279.3(ACSF3):c.667-77G>C	noncoding	Benign
16	89102573	T	C	T89102573C	ACSF3	NM_001243279.3(ACSF3):c.667-31T>C	noncoding	Benign
16	89102591	T	C	T89102591C	ACSF3	NM_001243279.3(ACSF3):c.667-13T>C	noncoding	Benign
16	89102754	C	T	C89102754T	ACSF3	NM_001243279.3(ACSF3):c.817C>T:p.Gln273Ter	coding	Pathogenic
16	89102757	C	T	C89102757T	ACSF3	NM_001243279.3(ACSF3):c.820C>T:p.Gln274Ter	coding	Pathogenic
16	89102777	C	T	C89102777T	ACSF3	NM_001243279.3(ACSF3):c.822+18C>T	noncoding	Benign/Likely_benign
16	89112040	C	T	C89112040T	ACSF3	NM_001243279.3(ACSF3):c.823-52C>T	noncoding	Benign
16	89112160	C	A	C89112160A	ACSF3	NM_001243279.3(ACSF3):c.891C>A:p.Tyr297Ter	coding	Pathogenic
16	89112365	A	G	A89112365G	ACSF3	NM_001243279.3(ACSF3):c.977+119A>G	noncoding	Benign
16	89112431	T	C	T89112431C	ACSF3	NM_001243279.3(ACSF3):c.977+185T>C	noncoding	Benign
16	89114256	C	G	C89114256G	ACSF3	NM_001243279.3(ACSF3):c.978-83C>G	noncoding	Benign
16	89114287	C	T	C89114287T	ACSF3	NM_001243279.3(ACSF3):c.978-52C>T	noncoding	Benign
16	89114475	G	A	G89114475A	ACSF3	NM_001243279.3(ACSF3):c.1114G>A:p.Val372Met	coding	Benign
16	89114527	G	T	G89114527T	ACSF3	NM_001243279.3(ACSF3):c.1126+40G>T	noncoding	Benign
16	89114604	G	A	G89114604A	ACSF3	NM_001243279.3(ACSF3):c.1126+117G>A	noncoding	Benign
16	89114731	T	G	T89114731G	ACSF3	NM_001243279.3(ACSF3):c.1126+244T>G	noncoding	Benign
16	89120460	C	T	C89120460T	ACSF3	NM_001243279.3(ACSF3):c.1127-341C>T	noncoding	Benign
16	89120970	G	C	G89120970C	ACSF3	NM_001243279.3(ACSF3):c.1239+57G>C	noncoding	Benign
16	89132797	G	A	G89132797A	ACSF3	NM_001243279.3(ACSF3):c.1240-339G>A	noncoding	Benign
16	89133207	G	A	G89133207A	ACSF3	NM_001243279.3(ACSF3):c.1311G>A:p.Trp437Ter	coding	Pathogenic
16	89133243	G	A	G89133243A	ACSF3	NM_001243279.3(ACSF3):c.1347G>A:p.Leu449=	coding	Benign
16	89133482	C	G	C89133482G	ACSF3	NM_001243279.3(ACSF3):c.1366+220C>G	noncoding	Benign
16	89145003	A	T	A89145003T	ACSF3	NM_001243279.3(ACSF3):c.1367-264A>T	noncoding	Benign
16	89145045	G	A	G89145045A	ACSF3	NM_001243279.3(ACSF3):c.1367-222G>A	noncoding	Benign
16	89145072	C	T	C89145072T	ACSF3	NM_001243279.3(ACSF3):c.1367-195C>T	noncoding	Benign
16	89145084	G	A	G89145084A	ACSF3	NM_001243279.3(ACSF3):c.1367-183G>A	noncoding	Benign
16	89145301	G	A	G89145301A	ACSF3	NM_001243279.3(ACSF3):c.1401G>A:p.Trp467Ter	coding	Pathogenic
16	89145611	A	G	A89145611G	ACSF3	NM_001243279.3(ACSF3):c.1501+210A>G	noncoding	Benign
16	89145792	A	G	A89145792G	ACSF3	NM_001243279.3(ACSF3):c.1502-146A>G	noncoding	Benign
16	89145874	A	T	A89145874T	ACSF3	NM_001243279.3(ACSF3):c.1502-64A>T	noncoding	Benign
16	89146016	C	G	C89146016G	ACSF3	NM_001243279.3(ACSF3):c.1580C>G:p.Ser527Ter	coding	Pathogenic/Likely_pathogenic
16	89146050	G	A	G89146050A	ACSF3	NM_001243279.3(ACSF3):c.1613+1G>A	coding	Pathogenic
16	89146051	T	C	T89146051C	ACSF3	NM_001243279.3(ACSF3):c.1613+2T>C	noncoding	Pathogenic
16	89153752	C	G	C89153752G	ACSF3	NM_001243279.3(ACSF3):c.1614-338C>G	noncoding	Benign
16	89153769	G	A	G89153769A	ACSF3	NM_001243279.3(ACSF3):c.1614-321G>A	noncoding	Benign
16	89153870	T	C	T89153870C	ACSF3	NM_001243279.3(ACSF3):c.1614-220T>C	noncoding	Benign
16	89154065	C	T	C89154065T	ACSF3	NM_001243279.3(ACSF3):c.1614-25C>T	noncoding	Benign
16	89154078	T	C	T89154078C	ACSF3	NM_001243279.3(ACSF3):c.1614-12T>C	noncoding	Benign
16	89154119	C	A	C89154119A	ACSF3	NM_001243279.3(ACSF3):c.1643C>A:p.Ser548Ter	coding	Pathogenic
16	89154280	C	T	C89154280T	ACSF3	NM_001243279.3(ACSF3):c.*73C>T	noncoding	Benign
16	89154438	G	A	G89154438A	ACSF3	NM_001243279.3(ACSF3):c.*231G>A	noncoding	Benign
16	89154472	C	A	C89154472A	ACSF3	NM_001243279.3(ACSF3):c.*265C>A	noncoding	Benign
16	89179482	G	T	G89179482T	CDH15	NM_004933.3(CDH15):c.109G>T:p.Ala37Ser	coding	Benign
16	89180262	T	C	T89180262C	CDH15	NM_004933.3(CDH15):c.264T>C:p.Asp88=	coding	Benign
16	89190287	G	A	G89190287A	CDH15	NM_004933.3(CDH15):c.1023G>A:p.Ser341=	coding	Benign
16	89193585	A	G	A89193585G	CDH15	NM_004933.3(CDH15):c.1971A>G:p.Gln657=	coding	Benign
16	89196023	G	A	G89196023A	SLC22A31	NM_001384763.1(SLC22A31):c.1317C>T:p.Ala439=	coding	Benign
16	89196249	G	A	G89196249A	SLC22A31	NM_001384763.1(SLC22A31):c.1091C>T:p.Pro364Leu	coding	Benign
16	89198679	A	G	A89198679G	SLC22A31	NM_001384763.1(SLC22A31):c.571T>C:p.Ser191Pro	coding	Benign
16	89198693	C	T	C89198693T	SLC22A31	NM_001384763.1(SLC22A31):c.557G>A:p.Gly186Asp	coding	Benign
16	89268198	G	C	G89268198C	ANKRD11	NM_013275.6(ANKRD11):c.*280C>G	noncoding	Benign
16	89268210	C	T	C89268210T	ANKRD11	NM_013275.6(ANKRD11):c.*268G>A	noncoding	Benign
16	89268213	G	C	G89268213C	ANKRD11	NM_013275.6(ANKRD11):c.*265C>G	noncoding	Benign
16	89268320	G	A	G89268320A	ANKRD11	NM_013275.6(ANKRD11):c.*158C>T	noncoding	Benign
16	89268656	A	C	A89268656C	ANKRD11	NM_013275.6(ANKRD11):c.7814T>G:p.Leu2605Arg	coding	Pathogenic/Likely_pathogenic
16	89268804	G	A	G89268804A	ANKRD11	NM_013275.6(ANKRD11):c.7807-141C>T	noncoding	Benign
16	89268967	T	G	T89268967G	ANKRD11	NM_013275.6(ANKRD11):c.7807-304A>C	noncoding	Benign
16	89270788	G	A	G89270788A	ANKRD11	NM_013275.6(ANKRD11):c.7806+29C>T	noncoding	Benign
16	89270806	G	A	G89270806A	ANKRD11	NM_013275.6(ANKRD11):c.7806+11C>T	noncoding	Benign
16	89270816	C	A	C89270816A	ANKRD11	NM_013275.6(ANKRD11):c.7806+1G>T	noncoding	Pathogenic
16	89270892	T	G	T89270892G	ANKRD11	NM_013275.6(ANKRD11):c.7731A>C:p.Ser2577=	coding	Benign/Likely_benign
16	89271118	G	A	G89271118A	ANKRD11	NM_013275.6(ANKRD11):c.7714-209C>T	noncoding	Benign
16	89274760	C	G	C89274760G	ANKRD11	NM_013275.6(ANKRD11):c.7713+54G>C	noncoding	Benign
16	89274832	G	A	G89274832A	ANKRD11	NM_013275.6(ANKRD11):c.7695C>T:p.Asn2565=	coding	Benign/Likely_benign
16	89274921	G	A	G89274921A	ANKRD11	NM_013275.6(ANKRD11):c.7606C>T:p.Arg2536Trp	coding	Pathogenic/Likely_pathogenic
16	89274985	T	C	T89274985C	ANKRD11	NM_013275.6(ANKRD11):c.7570-28A>G	noncoding	Benign
16	89274994	G	A	G89274994A	ANKRD11	NM_013275.6(ANKRD11):c.7570-37C>T	noncoding	Benign
16	89275128	G	A	G89275128A	ANKRD11	NM_013275.6(ANKRD11):c.7534C>T:p.Arg2512Trp	coding	Pathogenic/Likely_pathogenic
16	89275143	G	A	G89275143A	ANKRD11	NM_013275.6(ANKRD11):c.7519C>T:p.Gln2507Ter	coding	Pathogenic
16	89275181	G	C	G89275181C	ANKRD11	NM_013275.6(ANKRD11):c.7481C>G:p.Pro2494Arg	coding	Pathogenic
16	89278865	G	A	G89278865A	ANKRD11	NM_013275.6(ANKRD11):c.7470+207C>T	noncoding	Benign
16	89278929	G	A	G89278929A	ANKRD11	NM_013275.6(ANKRD11):c.7470+143C>T	noncoding	Benign
16	89279000	G	A	G89279000A	ANKRD11	NM_013275.6(ANKRD11):c.7470+72C>T	noncoding	Benign
16	89279067	C	G	C89279067G	ANKRD11	NM_013275.6(ANKRD11):c.7470+5G>C	noncoding	Pathogenic
16	89279071	C	G	C89279071G	ANKRD11	NM_013275.6(ANKRD11):c.7470+1G>C	noncoding	Pathogenic
16	89279174	G	A	G89279174A	ANKRD11	NM_013275.6(ANKRD11):c.7368C>T:p.Cys2456=	coding	Benign
16	89279218	G	A	G89279218A	ANKRD11	NM_013275.6(ANKRD11):c.7324C>T:p.Leu2442=	coding	Benign/Likely_benign
16	89279231	G	A	G89279231A	ANKRD11	NM_013275.6(ANKRD11):c.7311C>T:p.Pro2437=	coding	Benign
16	89279246	G	A	G89279246A	ANKRD11	NM_013275.6(ANKRD11):c.7296C>T:p.Ser2432=	coding	Benign/Likely_benign
16	89279350	G	A	G89279350A	ANKRD11	NM_013275.6(ANKRD11):c.7192C>T:p.Gln2398Ter	coding	Pathogenic
16	89279398	G	A	G89279398A	ANKRD11	NM_013275.6(ANKRD11):c.7144C>T:p.Gln2382Ter	coding	Pathogenic/Likely_pathogenic
16	89279564	G	A	G89279564A	ANKRD11	NM_013275.6(ANKRD11):c.6978C>T:p.Ala2326=	coding	Benign/Likely_benign
16	89279751	G	A	G89279751A	ANKRD11	NM_013275.6(ANKRD11):c.6791C>T:p.Pro2264Leu	coding	Benign
16	89279782	C	A	C89279782A	ANKRD11	NM_013275.6(ANKRD11):c.6760G>T:p.Gly2254Ter	coding	Pathogenic
16	89279844	C	T	C89279844T	ANKRD11	NM_013275.6(ANKRD11):c.6698G>A:p.Gly2233Glu	coding	Benign/Likely_benign
16	89279919	G	T	G89279919T	ANKRD11	NM_013275.6(ANKRD11):c.6623C>A:p.Ser2208Ter	coding	Pathogenic
16	89279982	G	A	G89279982A	ANKRD11	NM_013275.6(ANKRD11):c.6560C>T:p.Pro2187Leu	coding	Benign/Likely_benign
16	89280053	T	C	T89280053C	ANKRD11	NM_013275.6(ANKRD11):c.6489A>G:p.Pro2163_Glu2164=	coding	Benign
16	89280058	G	A	G89280058A	ANKRD11	NM_013275.6(ANKRD11):c.6484C>T:p.Pro2162Ser	coding	Benign
16	89280108	G	A	G89280108A	ANKRD11	NM_013275.6(ANKRD11):c.6434C>T:p.Thr2145Ile	coding	Benign
16	89280167	G	A	G89280167A	ANKRD11	NM_013275.6(ANKRD11):c.6375C>T:p.Ala2125=	coding	Benign
16	89280321	T	G	T89280321G	ANKRD11	NM_013275.6(ANKRD11):c.6221A>C:p.Glu2074Ala	coding	Benign/Likely_benign
16	89280402	G	C	G89280402C	ANKRD11	NM_013275.6(ANKRD11):c.6140C>G:p.Ala2047Gly	coding	Benign/Likely_benign
16	89280430	T	C	T89280430C	ANKRD11	NM_013275.6(ANKRD11):c.6112A>G:p.Lys2038Glu	coding	Benign/Likely_benign
16	89280470	C	G	C89280470G	ANKRD11	NM_013275.6(ANKRD11):c.6072G>C:p.Pro2024=	coding	Benign/Likely_benign
16	89280477	G	A	G89280477A	ANKRD11	NM_013275.6(ANKRD11):c.6065C>T:p.Pro2022Leu	coding	Benign/Likely_benign
16	89280544	G	A	G89280544A	ANKRD11	NM_013275.6(ANKRD11):c.5998C>T:p.Leu2000Phe	coding	Benign/Likely_benign
16	89280776	G	A	G89280776A	ANKRD11	NM_013275.6(ANKRD11):c.5766C>T:p.Ala1922_Ile1923=	coding	Benign/Likely_benign
16	89280883	G	A	G89280883A	ANKRD11	NM_013275.6(ANKRD11):c.5659C>T:p.Gln1887Ter	coding	Pathogenic
16	89280891	G	C	G89280891C	ANKRD11	NM_013275.6(ANKRD11):c.5651C>G:p.Ser1884Ter	coding	Pathogenic
16	89280910	A	G	A89280910G	ANKRD11;TRAPPC2L	NM_013275.6(ANKRD11):c.5632T>C:p.Ser1878Pro	coding	Benign/Likely_benign
16	89280913	G	A	G89280913A	ANKRD11	NM_013275.6(ANKRD11):c.5629C>T:p.Pro1877Ser	coding	Benign/Likely_benign
16	89280964	G	A	G89280964A	ANKRD11	NM_013275.6(ANKRD11):c.5578C>T:p.Pro1860Ser	coding	Benign/Likely_benign
16	89280992	G	C	G89280992C	ANKRD11	NM_013275.6(ANKRD11):c.5550C>G:p.Tyr1850Ter	coding	Pathogenic
16	89281061	G	C	G89281061C	ANKRD11	NM_013275.6(ANKRD11):c.5481C>G:p.Pro1827=	coding	Benign/Likely_benign
16	89281105	G	A	G89281105A	ANKRD11	NM_013275.6(ANKRD11):c.5437C>T:p.Gln1813Ter	coding	Pathogenic
16	89281127	G	A	G89281127A	ANKRD11	NM_013275.6(ANKRD11):c.5415C>T:p.Val1805=	coding	Benign
16	89281315	G	A	G89281315A	ANKRD11	NM_013275.6(ANKRD11):c.5227C>T:p.Gln1743Ter	coding	Pathogenic
16	89281346	G	A	G89281346A	ANKRD11	NM_013275.6(ANKRD11):c.5196C>T:p.Tyr1732=	coding	Benign/Likely_benign
16	89281364	G	A	G89281364A	ANKRD11	NM_013275.6(ANKRD11):c.5178C>T:p.Ser1726=	coding	Benign/Likely_benign
16	89281397	G	C	G89281397C	ANKRD11	NM_013275.6(ANKRD11):c.5145C>G:p.Tyr1715Ter	coding	Pathogenic
16	89281419	G	T	G89281419T	ANKRD11	NM_013275.6(ANKRD11):c.5123C>A:p.Ser1708Ter	coding	Pathogenic
16	89281469	C	T	C89281469T	ANKRD11	NM_013275.6(ANKRD11):c.5073G>A:p.Ala1691=	coding	Benign/Likely_benign
16	89281504	G	A	G89281504A	ANKRD11	NM_013275.6(ANKRD11):c.5038C>T:p.Leu1680=	coding	Benign/Likely_benign
16	89281792	C	A	C89281792A	ANKRD11	NM_013275.6(ANKRD11):c.4750G>T:p.Glu1584Ter	coding	Pathogenic
16	89281957	T	A	T89281957A	ANKRD11	NM_013275.6(ANKRD11):c.4585A>T:p.Lys1529Ter	coding	Pathogenic
16	89282236	C	A	C89282236A	ANKRD11	NM_013275.6(ANKRD11):c.4306G>T:p.Glu1436Ter	coding	Pathogenic
16	89282270	A	G	A89282270G	ANKRD11	NM_013275.6(ANKRD11):c.4272T>C:p.Ser1424=	coding	Benign
16	89282281	C	A	C89282281A	ANKRD11	NM_013275.6(ANKRD11):c.4261G>T:p.Glu1421Ter	coding	Pathogenic
16	89282305	C	T	C89282305T	ANKRD11	NM_013275.6(ANKRD11):c.4237G>A:p.Glu1413Lys	coding	Benign/Likely_benign
16	89282324	G	T	G89282324T	ANKRD11	NM_013275.6(ANKRD11):c.4218C>A:p.Tyr1406Ter	coding	Pathogenic
16	89282569	A	G	A89282569G	ANKRD11	NM_013275.6(ANKRD11):c.3973T>C:p.Phe1325Leu	coding	Benign/Likely_benign
16	89282611	G	A	G89282611A	ANKRD11	NM_013275.6(ANKRD11):c.3931C>T:p.Arg1311Ter	coding	Pathogenic
16	89282716	C	T	C89282716T	ANKRD11	NM_013275.6(ANKRD11):c.3826G>A:p.Ala1276Thr	coding	Benign/Likely_benign
16	89282762	C	T	C89282762T	ANKRD11	NM_013275.6(ANKRD11):c.3780G>A:p.Ser1260=	coding	Benign/Likely_benign
16	89282891	G	T	G89282891T	ANKRD11	NM_013275.6(ANKRD11):c.3651C>A:p.Tyr1217Ter	coding	Pathogenic
16	89283533	G	A	G89283533A	ANKRD11	NM_013275.6(ANKRD11):c.3009C>T:p.His1003=	coding	Benign
16	89283653	G	A	G89283653A	ANKRD11	NM_013275.6(ANKRD11):c.2889C>T:p.Asp963=	coding	Benign/Likely_benign
16	89283770	G	A	G89283770A	ANKRD11	NM_013275.6(ANKRD11):c.2772C>T:p.Thr924=	coding	Benign
16	89284019	C	T	C89284019T	ANKRD11	NM_013275.6(ANKRD11):c.2523G>A:p.Trp841Ter	coding	Pathogenic
16	89284078	G	A	G89284078A	ANKRD11	NM_013275.6(ANKRD11):c.2464C>T:p.Gln822Ter	coding	Pathogenic
16	89284129	C	A	C89284129A	ANKRD11	NM_013275.6(ANKRD11):c.2413G>T:p.Glu805Ter	coding	Pathogenic
16	89284174	C	A	C89284174A	ANKRD11	NM_013275.6(ANKRD11):c.2368G>T:p.Glu790Ter	coding	Pathogenic
16	89285083	C	A	C89285083A	ANKRD11	NM_013275.6(ANKRD11):c.1459G>T:p.Glu487Ter	coding	Pathogenic
16	89285098	C	A	C89285098A	ANKRD11	NM_013275.6(ANKRD11):c.1444G>T:p.Glu482Ter	coding	Pathogenic
16	89285284	C	T	C89285284T	ANKRD11	NM_013275.6(ANKRD11):c.1258G>A:p.Val420Met	coding	Benign/Likely_benign
16	89285310	G	T	G89285310T	ANKRD11	NM_013275.6(ANKRD11):c.1232C>A:p.Ser411Ter	coding	Pathogenic
16	89285668	G	A	G89285668A	ANKRD11	NM_013275.6(ANKRD11):c.893-19C>T	noncoding	Benign
16	89285741	G	A	G89285741A	ANKRD11	NM_013275.6(ANKRD11):c.893-92C>T	noncoding	Benign
16	89286107	T	C	T89286107C	ANKRD11	NM_013275.6(ANKRD11):c.824A>G:p.Asn275Ser	coding	Benign/Likely_benign
16	89286206	G	A	G89286206A	ANKRD11	NM_013275.6(ANKRD11):c.745-20C>T	noncoding	Benign
16	89286270	G	A	G89286270A	ANKRD11	NM_013275.6(ANKRD11):c.745-84C>T	noncoding	Benign
16	89288461	A	G	A89288461G	ANKRD11	NM_013275.6(ANKRD11):c.744+67T>C	noncoding	Benign
16	89288671	C	T	C89288671T	ANKRD11	NM_013275.6(ANKRD11):c.602-1G>A	coding	Pathogenic
16	89288870	A	G	A89288870G	ANKRD11	NM_013275.6(ANKRD11):c.602-200T>C	noncoding	Benign
16	89290588	G	A	G89290588A	ANKRD11	NM_013275.6(ANKRD11):c.601+37C>T	noncoding	Benign
16	89290658	C	A	C89290658A	ANKRD11	NM_013275.6(ANKRD11):c.568G>T:p.Glu190Ter	coding	Pathogenic
16	89290680	C	A	C89290680A	ANKRD11	NM_013275.6(ANKRD11):c.546G>T:p.Arg182=	coding	Benign
16	89290749	A	G	A89290749G	ANKRD11	NM_013275.6(ANKRD11):c.477T>C:p.Asp159=	coding	Benign
16	89290873	C	T	C89290873T	ANKRD11	NM_013275.6(ANKRD11):c.398-45G>A	noncoding	Benign
16	89290972	C	A	C89290972A	ANKRD11	NM_013275.6(ANKRD11):c.397+41G>T	noncoding	Benign
16	89291012	C	T	C89291012T	ANKRD11	NM_013275.6(ANKRD11):c.397+1G>A	noncoding	Pathogenic
16	89304999	G	A	G89304999A	ANKRD11	NM_013275.6(ANKRD11):c.226+207C>T	noncoding	Benign
16	89305205	C	T	C89305205T	ANKRD11	NM_013275.6(ANKRD11):c.226+1G>A	noncoding	Pathogenic
16	89305296	C	T	C89305296T	TRAPPC2L;ANKRD11	NM_013275.6(ANKRD11):c.136G>A:p.Asp46Asn	coding	Benign/Likely_benign
16	89305419	G	A	G89305419A	ANKRD11	NM_013275.6(ANKRD11):c.88-75C>T	noncoding	Benign
16	89305431	G	A	G89305431A	ANKRD11	NM_013275.6(ANKRD11):c.88-87C>T	noncoding	Benign
16	89305545	G	T	G89305545T	ANKRD11	NM_013275.6(ANKRD11):c.88-201C>A	noncoding	Benign
16	89305631	C	G	C89305631G	ANKRD11	NM_013275.6(ANKRD11):c.88-287G>C	noncoding	Benign
16	89305638	G	C	G89305638C	ANKRD11	NM_013275.6(ANKRD11):c.88-294C>G	noncoding	Benign
16	89305671	C	T	C89305671T	ANKRD11	NM_013275.6(ANKRD11):c.88-327G>A	noncoding	Benign
16	89317037	G	A	G89317037A	ANKRD11	NM_013275.6(ANKRD11):c.-18C>T	noncoding	Benign
16	89317317	T	C	T89317317C	ANKRD11	NM_013275.6(ANKRD11):c.-59-239A>G	noncoding	Benign
16	89418361	T	C	T89418361C	ANKRD11	NM_013275.6(ANKRD11):c.-137A>G	noncoding	Benign
16	89490258	C	A	C89490258A	ANKRD11	NM_013275.6(ANKRD11):c.-158G>T	noncoding	Benign
16	89508168	G	A	G89508168A	SPG7	Single_allele	noncoding	Benign
16	89508277	G	C	G89508277C	SPG7	Single_allele	noncoding	Benign
16	89508418	A	G	A89508418G	SPG7	NM_003119.4(SPG7):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
16	89508419	T	A	T89508419A	SPG7	NM_003119.4(SPG7):c.2T>A:p.Met1Lys	coding	Pathogenic
16	89510358	T	C	T89510358C	SPG7	NM_003119.4(SPG7):c.184-132T>C	noncoding	Benign
16	89510638	C	T	C89510638T	SPG7	NM_003119.4(SPG7):c.286+46C>T	noncoding	Benign
16	89524044	C	T	C89524044T	SPG7	NM_003119.4(SPG7):c.415C>T:p.Arg139Ter	coding	Pathogenic
16	89524417	C	T	C89524417T	SPG7	NM_003119.4(SPG7):c.618+170C>T	noncoding	Benign
16	89526214	C	T	C89526214T	SPG7	NM_003119.4(SPG7):c.619-115C>T	noncoding	Benign
16	89526279	C	T	C89526279T	SPG7	NM_003119.4(SPG7):c.619-50C>T	noncoding	Benign
16	89526282	G	A	G89526282A	SPG7	NM_003119.4(SPG7):c.619-47G>A	noncoding	Benign
16	89526422	A	T	A89526422T	SPG7	NM_003119.4(SPG7):c.712A>T:p.Lys238Ter	coding	Pathogenic
16	89529351	C	T	C89529351T	SPG7	NM_003119.4(SPG7):c.759-126C>T	noncoding	Benign
16	89529475	A	G	A89529475G	SPG7	NM_003119.4(SPG7):c.759-2A>G	noncoding	Pathogenic/Likely_pathogenic
16	89529698	C	T	C89529698T	SPG7	NM_003119.4(SPG7):c.861+119C>T	noncoding	Benign
16	89530649	G	T	G89530649T	SPG7	NM_003119.4(SPG7):c.862-34G>T	noncoding	Benign
16	89531098	C	A	C89531098A	SPG7	NM_003119.4(SPG7):c.987+290C>A	noncoding	Benign
16	89532352	A	G	A89532352G	SPG7	NM_003119.4(SPG7):c.1151-111A>G	noncoding	Benign
16	89532481	T	C	T89532481C	SPG7	NM_003119.4(SPG7):c.1169T>C:p.Val390Ala	coding	Pathogenic
16	89532498	G	T	G89532498T	SPG7	NM_003119.4(SPG7):c.1186G>T:p.Glu396Ter	coding	Pathogenic/Likely_pathogenic
16	89536745	C	A	C89536745A	SPG7	NM_003119.4(SPG7):c.1324+4109C>A	noncoding	Benign
16	89536745	C	T	C89536745T	SPG7	NM_003119.4(SPG7):c.1324+4109C>T	noncoding	Benign
16	89546580	C	T	C89546580T	SPG7	NM_003119.4(SPG7):c.1450-78C>T	noncoding	Benign
16	89546629	G	A	G89546629A	SPG7	NM_003119.4(SPG7):c.1450-29G>A	noncoding	Benign
16	89546679	C	T	C89546679T	SPG7	NM_003119.4(SPG7):c.1471C>T:p.Gln491Ter	coding	Pathogenic
16	89546727	C	T	C89546727T	SPG7	NM_003119.4(SPG7):c.1519C>T:p.Gln507Ter	coding	Pathogenic
16	89546743	T	C	T89546743C	SPG7	NM_003119.4(SPG7):c.1535T>C:p.Leu512Pro	coding	Pathogenic
16	89546825	A	C	A89546825C	SPG7	NM_003119.4(SPG7):c.1552+65A>C	noncoding	Benign
16	89548053	G	T	G89548053T	SPG7	NM_003119.4(SPG7):c.1603G>T:p.Glu535Ter	coding	Pathogenic
16	89550532	C	T	C89550532T	SPG7	NM_003119.4(SPG7):c.1702C>T:p.Gln568Ter	coding	Pathogenic
16	89550560	G	A	G89550560A	SPG7	NM_003119.4(SPG7):c.1730G>A:p.Gly577Asp	coding	Pathogenic/Likely_pathogenic
16	89550579	G	C	G89550579C	SPG7	NM_003119.4(SPG7):c.1749G>C:p.Trp583Cys	coding	Pathogenic/Likely_pathogenic
16	89550607	A	T	A89550607T	SPG7	NM_003119.4(SPG7):c.1777A>T:p.Lys593Ter	coding	Pathogenic
16	89550656	G	C	G89550656C	SPG7	NM_003119.4(SPG7):c.1779+47G>C	noncoding	Benign
16	89550847	A	G	A89550847G	SPG7	NM_003119.4(SPG7):c.1779+238A>G	noncoding	Benign
16	89553740	A	G	A89553740G	SPG7	NM_003119.4(SPG7):c.1937-54A>G	noncoding	Benign
16	89553797	C	A	C89553797A	SPG7	NM_003119.4(SPG7):c.1940C>A:p.Ala647Glu	coding	Pathogenic
16	89553919	C	T	C89553919T	SPG7	NM_003119.4(SPG7):c.2062C>T:p.Arg688Trp	coding	Pathogenic
16	89561052	T	G	T89561052G	RPL13	NM_000977.4(RPL13):c.93T>G:p.Arg31=	coding	Benign
16	89561263	C	T	C89561263T	RPL13	NM_000977.4(RPL13):c.141C>T:p.Ala47=	coding	Benign
16	89646481	C	T	C89646481T	CHMP1A	NM_002768.5(CHMP1A):c.569+46G>A	noncoding	Benign
16	89646986	C	A	C89646986A	CHMP1A	NM_002768.5(CHMP1A):c.381+217G>T	noncoding	Benign
16	89647015	C	T	C89647015T	CHMP1A	NM_002768.5(CHMP1A):c.381+188G>A	noncoding	Benign
16	89647155	C	G	C89647155G	CHMP1A	NM_002768.5(CHMP1A):c.381+48G>C	coding	Benign
16	89647539	A	G	A89647539G	CHMP1A	NM_002768.5(CHMP1A):c.253-208T>C	noncoding	Benign
16	89647565	G	C	G89647565C	CHMP1A	NM_002768.5(CHMP1A):c.253-234C>G	noncoding	Benign
16	89649208	G	A	G89649208A	CHMP1A	NM_002768.5(CHMP1A):c.252+143C>T	noncoding	Benign
16	89651464	C	T	C89651464T	CHMP1A	NM_002768.5(CHMP1A):c.105+105G>A	noncoding	Benign
16	89654001	T	A	T89654001A	CHMP1A	NM_002768.5(CHMP1A):c.8-78A>T	noncoding	Benign
16	89657462	G	A	G89657462A	CHMP1A	NM_002768.5(CHMP1A):c.7+120C>T	noncoding	Benign
16	89657860	C	T	C89657860T	CHMP1A	NM_001271907.2(SPATA33):c.-52C>T	coding	Benign
16	89657905	C	G	C89657905G	CHMP1A	NM_001271907.2(SPATA33):c.-7C>G	coding	Benign
16	89692565	A	G	A89692565G	CDK10	NM_052988.5(CDK10):c.485+49A>G	noncoding	Benign
16	89694144	T	C	T89694144C	CDK10	NM_052988.5(CDK10):c.609-29T>C	noncoding	Benign
16	89695010	G	A	G89695010A	CDK10	NM_052988.5(CDK10):c.872G>A:p.Trp291Ter	coding	Pathogenic
16	89738916	C	T	C89738916T	FANCA	NM_000135.4(FANCA):c.4226G>A:p.Arg1409Gln	coding	Benign/Likely_benign
16	89738929	G	A	G89738929A	FANCA	NM_000135.4(FANCA):c.4213C>T:p.Gln1405Ter	coding	Pathogenic
16	89738944	G	A	G89738944A	FANCA	NM_000135.4(FANCA):c.4198C>T:p.Arg1400Cys	coding	Pathogenic/Likely_pathogenic
16	89739204	G	A	G89739204A	FANCA	NM_000135.4(FANCA):c.4096C>T:p.Gln1366Ter	coding	Pathogenic
16	89739386	A	G	A89739386G	FANCA	NM_000135.4(FANCA):c.4010+92T>C	coding	Benign
16	89739476	A	G	A89739476G	FANCA	NM_000135.4(FANCA):c.4010+2T>C	coding	Pathogenic
16	89739554	C	A	C89739554A	FANCA	NM_000135.4(FANCA):c.3935-1G>T	coding	Pathogenic/Likely_pathogenic
16	89739555	T	A	T89739555A	FANCA	NM_000135.4(FANCA):c.3935-2A>T	coding	Pathogenic
16	89739655	G	C	G89739655C	FANCA	NM_000135.4(FANCA):c.3935-102C>G	coding	Benign
16	89739935	C	A	C89739935A	FANCA	NM_000135.4(FANCA):c.3934+59G>T	coding	Benign
16	89739939	A	T	A89739939T	FANCA	NM_000135.4(FANCA):c.3934+55T>A	coding	Benign
16	89739992	A	G	A89739992G	FANCA	NM_000135.4(FANCA):c.3934+2T>C	coding	Pathogenic/Likely_pathogenic
16	89740015	G	A	G89740015A	FANCA	NM_000135.4(FANCA):c.3913C>T:p.Leu1305Phe	coding	Pathogenic/Likely_pathogenic
16	89740206	T	A	T89740206A	FANCA	NM_000135.4(FANCA):c.3829-107A>T	coding	Benign
16	89740324	G	A	G89740324A	FANCA	NM_000135.4(FANCA):c.3829-225C>T	coding	Benign
16	89740723	C	A	C89740723A	FANCA	NM_000135.4(FANCA):c.3828+81G>T	coding	Benign
16	89740823	G	T	G89740823T	FANCA	NM_000135.4(FANCA):c.3809C>A:p.Ser1270Ter	coding	Pathogenic
16	89741135	G	A	G89741135A	FANCA	NM_000135.4(FANCA):c.3766-269C>T	noncoding	Benign
16	89742531	T	C	T89742531C	FANCA	NM_000135.4(FANCA):c.3765+269A>G	noncoding	Benign
16	89742802	C	A	C89742802A	FANCA	NM_000135.4(FANCA):c.3763G>T:p.Glu1255Ter	coding	Pathogenic
16	89742893	C	T	C89742893T	FANCA	NM_000135.4(FANCA):c.3672G>A:p.Trp1224Ter	coding	Pathogenic
16	89743140	C	A	C89743140A	FANCA	NM_000135.4(FANCA):c.3627-202G>T	noncoding	Benign
16	89743141	A	G	A89743141G	FANCA	NM_000135.4(FANCA):c.3627-203T>C	noncoding	Benign
16	89744743	A	G	A89744743G	FANCA	NM_000135.4(FANCA):c.3626+216T>C	noncoding	Benign
16	89744788	T	C	T89744788C	FANCA	NM_000135.4(FANCA):c.3626+171A>G	noncoding	Benign
16	89744801	C	T	C89744801T	FANCA	NM_000135.4(FANCA):c.3626+158G>A	noncoding	Benign
16	89744972	G	A	G89744972A	FANCA	NM_000135.4(FANCA):c.3613C>T:p.Gln1205Ter	coding	Pathogenic/Likely_pathogenic
16	89744999	C	A	C89744999A	FANCA	NM_000135.4(FANCA):c.3586G>T:p.Glu1196Ter	coding	Pathogenic
16	89745138	A	G	A89745138G	FANCA	NM_000135.4(FANCA):c.3514-67T>C	noncoding	Benign
16	89745221	C	T	C89745221T	FANCA	NM_000135.4(FANCA):c.3514-150G>A	noncoding	Benign
16	89745255	T	C	T89745255C	FANCA	NM_000135.4(FANCA):c.3514-184A>G	noncoding	Benign
16	89745343	C	G	C89745343G	FANCA	NM_000135.4(FANCA):c.3514-272G>C	noncoding	Benign
16	89746354	C	A	C89746354A	FANCA	NM_000135.4(FANCA):c.3513+230G>T	noncoding	Benign
16	89746370	G	A	G89746370A	FANCA	NM_000135.4(FANCA):c.3513+214C>T	noncoding	Benign
16	89746522	G	A	G89746522A	FANCA	NM_000135.4(FANCA):c.3513+62C>T	noncoding	Benign
16	89746527	C	T	C89746527T	FANCA	NM_000135.4(FANCA):c.3513+57G>A	noncoding	Benign
16	89746571	A	G	A89746571G	FANCA	NM_000135.4(FANCA):c.3513+13T>C	noncoding	Benign
16	89746677	G	A	G89746677A	FANCA	NM_000135.4(FANCA):c.3420C>T:p.Asn1140=	coding	Benign/Likely_benign
16	89747048	C	T	C89747048T	FANCA	NM_000135.4(FANCA):c.3349-158G>A	noncoding	Benign
16	89747181	C	T	C89747181T	FANCA	NM_000135.4(FANCA):c.3349-291G>A	noncoding	Benign
16	89748399	T	C	T89748399C	FANCA	NM_000135.4(FANCA):c.3348+260A>G	noncoding	Benign
16	89748410	T	G	T89748410G	FANCA	NM_000135.4(FANCA):c.3348+249A>C	noncoding	Benign
16	89748725	G	C	G89748725C	FANCA	NM_000135.4(FANCA):c.3282C>G:p.Ser1094Arg	coding	Pathogenic
16	89748734	G	T	G89748734T	FANCA	NM_000135.4(FANCA):c.3273C>A:p.Cys1091Ter	coding	Pathogenic
16	89748913	C	T	C89748913T	FANCA	NM_000135.4(FANCA):c.3240-146G>A	noncoding	Benign
16	89749729	C	T	C89749729T	FANCA	NM_000135.4(FANCA):c.3239+1G>A	noncoding	Pathogenic
16	89749735	G	C	G89749735C	FANCA	NM_000135.4(FANCA):c.3234C>G:p.Tyr1078Ter	coding	Pathogenic
16	89749780	C	T	C89749780T	FANCA	NM_000135.4(FANCA):c.3189G>A:p.Trp1063Ter	coding	Pathogenic
16	89749800	G	A	G89749800A	FANCA	NM_000135.4(FANCA):c.3169C>T:p.Gln1057Ter	coding	Pathogenic
16	89749959	T	G	T89749959G	FANCA	NM_000135.4(FANCA):c.3067-57A>C	noncoding	Benign
16	89749999	A	G	A89749999G	FANCA	NM_000135.4(FANCA):c.3067-97T>C	noncoding	Benign
16	89750016	G	T	G89750016T	FANCA	NM_000135.4(FANCA):c.3067-114C>A	noncoding	Benign
16	89750104	T	G	T89750104G	FANCA	NM_000135.4(FANCA):c.3067-202A>C	noncoding	Benign
16	89750161	C	A	C89750161A	FANCA	NM_000135.4(FANCA):c.3067-259G>T	noncoding	Benign
16	89752083	T	C	T89752083C	FANCA	NM_000135.4(FANCA):c.3066+55A>G	noncoding	Benign
16	89752122	G	A	G89752122A	FANCA	NM_000135.4(FANCA):c.3066+16C>T	noncoding	Benign
16	89752140	G	A	G89752140A	FANCA	NM_000135.4(FANCA):c.3064C>T:p.Gln1022Ter	coding	Pathogenic
16	89752324	C	G	C89752324G	FANCA	NM_000135.4(FANCA):c.2982-102G>C	noncoding	Benign
16	89758662	C	A	C89758662A	FANCA	NM_000135.4(FANCA):c.2896G>T:p.Glu966Ter	coding	Pathogenic
16	89758707	T	G	T89758707G	FANCA	NM_000135.4(FANCA):c.2853-2A>C	noncoding	Pathogenic/Likely_pathogenic
16	89758840	T	C	T89758840C	FANCA	NM_000135.4(FANCA):c.2853-135A>G	noncoding	Benign
16	89758930	A	G	A89758930G	FANCA	NM_000135.4(FANCA):c.2853-225T>C	noncoding	Benign
16	89761994	T	C	T89761994C	FANCA	NM_000135.4(FANCA):c.2807A>G:p.Glu936Gly	coding	Pathogenic
16	89762076	C	T	C89762076T	FANCA	NM_000135.4(FANCA):c.2779-54G>A	noncoding	Benign
16	89764989	C	T	C89764989T	FANCA	NM_000135.4(FANCA):c.2679G>A:p.Trp893Ter	coding	Pathogenic
16	89765012	C	A	C89765012A	FANCA	NM_000135.4(FANCA):c.2656G>T:p.Glu886Ter	coding	Pathogenic
16	89765085	C	G	C89765085G	FANCA	NM_000135.4(FANCA):c.2602-19G>C	noncoding	Benign/Likely_benign
16	89765150	C	T	C89765150T	FANCA	NM_000135.4(FANCA):c.2602-84G>A	noncoding	Benign
16	89765222	G	A	G89765222A	FANCA	NM_000135.4(FANCA):c.2602-156C>T	noncoding	Benign
16	89767191	G	A	G89767191A	FANCA	NM_000135.4(FANCA):c.2551C>T:p.Gln851Ter	coding	Pathogenic
16	89767366	C	G	C89767366G	FANCA	NM_000135.4(FANCA):c.2505-129G>C	noncoding	Benign
16	89769842	G	T	G89769842T	FANCA	NM_000135.4(FANCA):c.2499C>A:p.Cys833Ter	coding	Pathogenic/Likely_pathogenic
16	89769950	C	T	C89769950T	FANCA	NM_000135.4(FANCA):c.2391G>A:p.Ala797=	coding	Benign/Likely_benign
16	89770099	T	C	T89770099C	FANCA	NM_000135.4(FANCA):c.2316+67A>G	noncoding	Benign
16	89770183	G	A	G89770183A	FANCA	NM_000135.4(FANCA):c.2299C>T:p.Gln767Ter	coding	Pathogenic
16	89770373	G	A	G89770373A	FANCA	NM_000135.4(FANCA):c.2223-114C>T	noncoding	Benign
16	89770457	A	G	A89770457G	FANCA	NM_000135.4(FANCA):c.2222+107T>C	noncoding	Benign
16	89770464	T	C	T89770464C	FANCA	NM_000135.4(FANCA):c.2222+100A>G	noncoding	Benign
16	89770491	T	C	T89770491C	FANCA	NM_000135.4(FANCA):c.2222+73A>G	noncoding	Benign
16	89770654	A	T	A89770654T	FANCA	NM_000135.4(FANCA):c.2152-20T>A	noncoding	Benign
16	89770918	T	C	T89770918C	FANCA	NM_000135.4(FANCA):c.2152-284A>G	noncoding	Benign
16	89771519	A	G	A89771519G	FANCA	NM_000135.4(FANCA):c.2151+159T>C	noncoding	Benign
16	89771543	T	C	T89771543C	FANCA	NM_000135.4(FANCA):c.2151+135A>G	noncoding	Benign
16	89771686	C	A	C89771686A	FANCA	NM_000135.4(FANCA):c.2143G>T:p.Glu715Ter	coding	Pathogenic
16	89772133	C	T	C89772133T	FANCA	NM_000135.4(FANCA):c.2015-319G>A	noncoding	Benign
16	89773229	C	A	C89773229A	FANCA	NM_000135.4(FANCA):c.2014+42G>T	noncoding	Benign
16	89773446	T	C	T89773446C	FANCA	NM_000135.4(FANCA):c.1901-62A>G	noncoding	Benign
16	89773568	T	C	T89773568C	FANCA	NM_000135.4(FANCA):c.1901-184A>G	noncoding	Benign
16	89773589	G	A	G89773589A	FANCA	NM_000135.4(FANCA):c.1901-205C>T	noncoding	Benign
16	89775621	C	G	C89775621G	FANCA	NM_000135.4(FANCA):c.1900+121G>C	noncoding	Benign
16	89775788	G	C	G89775788C	FANCA	NM_000135.4(FANCA):c.1854C>G:p.Tyr618Ter	coding	Pathogenic
16	89775817	T	C	T89775817C	FANCA	NM_000135.4(FANCA):c.1827-2A>G	noncoding	Pathogenic
16	89775966	T	G	T89775966G	FANCA	NM_000135.4(FANCA):c.1827-151A>C	noncoding	Benign
16	89776071	T	C	T89776071C	FANCA	NM_000135.4(FANCA):c.1827-256A>G	noncoding	Benign
16	89778702	A	T	A89778702T	FANCA	NM_000135.4(FANCA):c.1826+99T>A	noncoding	Benign
16	89778703	T	C	T89778703C	FANCA	NM_000135.4(FANCA):c.1826+98A>G	noncoding	Benign
16	89779642	C	T	C89779642T	FANCA	NM_000135.4(FANCA):c.1715+227G>A	noncoding	Benign
16	89779673	G	A	G89779673A	FANCA	NM_000135.4(FANCA):c.1715+196C>T	noncoding	Benign
16	89779787	A	G	A89779787G	FANCA	NM_000135.4(FANCA):c.1715+82T>C	noncoding	Benign
16	89782696	A	G	A89782696G	FANCA	NM_000135.4(FANCA):c.1626+163T>C	noncoding	Benign
16	89782843	G	A	G89782843A	FANCA	NM_000135.4(FANCA):c.1626+16C>T	noncoding	Benign/Likely_benign
16	89782878	G	C	G89782878C	FANCA	NM_000135.4(FANCA):c.1607C>G:p.Ser536Ter	coding	Pathogenic
16	89782892	G	T	G89782892T	FANCA	NM_000135.4(FANCA):c.1593C>A:p.Tyr531Ter	coding	Pathogenic
16	89782919	C	G	C89782919G	FANCA	NM_000135.4(FANCA):c.1567-1G>C	coding	Pathogenic
16	89783175	C	T	C89783175T	FANCA	NM_000135.4(FANCA):c.1471-73G>A	noncoding	Benign
16	89783221	T	A	T89783221A	FANCA	NM_000135.4(FANCA):c.1471-119A>T	noncoding	Benign
16	89783327	G	A	G89783327A	FANCA	NM_000135.4(FANCA):c.1471-225C>T	noncoding	Benign
16	89783332	C	T	C89783332T	FANCA	NM_000135.4(FANCA):c.1471-230G>A	noncoding	Benign
16	89784549	A	T	A89784549T	FANCA	NM_000135.4(FANCA):c.1470+305T>A	noncoding	Benign
16	89784596	A	G	A89784596G	FANCA	NM_000135.4(FANCA):c.1470+258T>C	noncoding	Benign
16	89784625	C	T	C89784625T	FANCA	NM_000135.4(FANCA):c.1470+229G>A	noncoding	Benign
16	89784771	C	T	C89784771T	FANCA	NM_000135.4(FANCA):c.1470+83G>A	noncoding	Benign
16	89784856	G	A	G89784856A	FANCA	NM_000135.4(FANCA):c.1468C>T:p.Gln490Ter	coding	Pathogenic/Likely_pathogenic
16	89785166	A	G	A89785166G	FANCA	NM_000135.4(FANCA):c.1360-202T>C	noncoding	Benign
16	89791140	A	G	A89791140G	FANCA	NM_000135.4(FANCA):c.1359+263T>C	noncoding	Benign
16	89791214	T	C	T89791214C	FANCA	NM_000135.4(FANCA):c.1359+189A>G	noncoding	Benign
16	89791292	A	G	A89791292G	FANCA	NM_000135.4(FANCA):c.1359+111T>C	noncoding	Benign
16	89791409	C	T	C89791409T	FANCA	NM_000135.4(FANCA):c.1353G>A:p.Trp451Ter	coding	Pathogenic
16	89791418	A	C	A89791418C	FANCA	NM_000135.4(FANCA):c.1344T>G:p.Tyr448Ter	coding	Pathogenic
16	89791419	T	C	T89791419C	FANCA	NM_000135.4(FANCA):c.1343A>G:p.Tyr448Cys	coding	Pathogenic
16	89791495	G	A	G89791495A	FANCA	NM_000135.4(FANCA):c.1267C>T:p.Gln423Ter	coding	Pathogenic/Likely_pathogenic
16	89791537	C	G	C89791537G	FANCA	NM_000135.4(FANCA):c.1226-1G>C	coding	Pathogenic
16	89791616	A	G	A89791616G	FANCA	NM_000135.4(FANCA):c.1226-80T>C	noncoding	Benign
16	89791776	A	G	A89791776G	FANCA	NM_000135.4(FANCA):c.1225+151T>C	noncoding	Benign
16	89791907	G	A	G89791907A	FANCA	NM_000135.4(FANCA):c.1225+20C>T	noncoding	Benign
16	89791939	G	A	G89791939A	FANCA	NM_000135.4(FANCA):c.1213C>T:p.Gln405Ter	coding	Pathogenic/Likely_pathogenic
16	89792008	G	A	G89792008A	FANCA	NM_000135.4(FANCA):c.1144C>T:p.Gln382Ter	coding	Pathogenic
16	89792249	C	G	C89792249G	FANCA	NM_000135.4(FANCA):c.1084-181G>C	noncoding	Benign
16	89792287	C	T	C89792287T	FANCA	NM_000135.4(FANCA):c.1083+184G>A	noncoding	Benign
16	89792351	C	T	C89792351T	FANCA	NM_000135.4(FANCA):c.1083+120G>A	noncoding	Benign
16	89792484	G	C	G89792484C	FANCA	NM_000135.4(FANCA):c.1070C>G:p.Ser357Ter	coding	Pathogenic
16	89792564	A	G	A89792564G	FANCA	NM_000135.4(FANCA):c.1007-17T>C	noncoding	Benign
16	89792600	G	A	G89792600A	FANCA	NM_000135.4(FANCA):c.1007-53C>T	noncoding	Benign
16	89795724	G	C	G89795724C	FANCA	NM_000135.4(FANCA):c.1006+182C>G	noncoding	Benign
16	89795747	G	C	G89795747C	FANCA	NM_000135.4(FANCA):c.1006+159C>G	noncoding	Benign
16	89795794	C	T	C89795794T	FANCA	NM_000135.4(FANCA):c.1006+112G>A	noncoding	Benign
16	89796020	T	C	T89796020C	FANCA	NM_000135.4(FANCA):c.894-2A>G	noncoding	Pathogenic/Likely_pathogenic
16	89798834	T	C	T89798834C	FANCA	NM_000135.4(FANCA):c.893+332A>G	coding	Benign
16	89803258	C	T	C89803258T	FANCA	NM_000135.4(FANCA):c.792+1G>A	noncoding	Pathogenic
16	89803299	G	C	G89803299C	FANCA	NM_000135.4(FANCA):c.752C>G:p.Ser251Ter	coding	Pathogenic
16	89803320	A	T	A89803320T	FANCA	NM_000135.4(FANCA):c.731T>A:p.Leu244Ter	coding	Pathogenic
16	89805278	A	G	A89805278G	FANCA	NM_000135.4(FANCA):c.709+2T>C	noncoding	Pathogenic/Likely_pathogenic
16	89805363	C	T	C89805363T	FANCA	NM_000135.4(FANCA):c.626G>A:p.Trp209Ter	coding	Pathogenic
16	89808220	C	T	C89808220T	FANCA	NM_000135.4(FANCA):c.596+74G>A	noncoding	Benign
16	89808310	G	A	G89808310A	FANCA	NM_000135.4(FANCA):c.580C>T:p.Gln194Ter	coding	Pathogenic
16	89808328	G	A	G89808328A	FANCA	NM_000135.4(FANCA):c.562C>T:p.Gln188Ter	coding	Pathogenic
16	89808625	G	T	G89808625T	FANCA	NM_000135.4(FANCA):c.523-258C>A	noncoding	Benign
16	89810555	G	C	G89810555C	FANCA	NM_000135.4(FANCA):c.522+152C>G	noncoding	Benign
16	89810772	G	A	G89810772A	FANCA	NM_000135.4(FANCA):c.457C>T:p.Gln153Ter	coding	Pathogenic
16	89810861	T	C	T89810861C	FANCA	NM_000135.4(FANCA):c.427-59A>G	noncoding	Benign
16	89810988	G	A	G89810988A	FANCA	NM_000135.4(FANCA):c.367C>T:p.Gln123Ter	coding	Pathogenic
16	89811047	G	A	G89811047A	FANCA	NM_000135.4(FANCA):c.308C>T:p.Ser103Leu	coding	Benign/Likely_benign
16	89811138	G	C	G89811138C	FANCA	NM_000135.4(FANCA):c.284-67C>G	noncoding	Benign
16	89811312	C	T	C89811312T	FANCA	NM_000135.4(FANCA):c.284-241G>A	noncoding	Benign
16	89814414	C	G	C89814414G	FANCA	NM_000135.4(FANCA):c.283+106G>C	noncoding	Benign
16	89815694	G	C	G89815694C	FANCA	NM_000135.4(FANCA):c.189+183C>G	noncoding	Benign
16	89815903	G	A	G89815903A	FANCA	NM_000135.4(FANCA):c.163C>T:p.Gln55Ter	coding	Pathogenic/Likely_pathogenic
16	89815929	G	C	G89815929C	FANCA	NM_000135.4(FANCA):c.137C>G:p.Ser46Ter	coding	Pathogenic
16	89815984	C	A	C89815984A	FANCA	NM_000135.4(FANCA):c.82G>T:p.Gly28Ter	coding	Pathogenic/Likely_pathogenic
16	89816150	G	A	G89816150A	FANCA	NM_000135.4(FANCA):c.80-164C>T	noncoding	Benign
16	89816201	G	T	G89816201T	FANCA	NM_000135.4(FANCA):c.80-215C>A	noncoding	Benign
16	89816399	G	T	G89816399T	FANCA	NM_000135.4(FANCA):c.79+138C>A	noncoding	Benign
16	89816418	C	T	C89816418T	FANCA	NM_000135.4(FANCA):c.79+119G>A	noncoding	Benign
16	89816605	G	T	G89816605T	FANCA	NM_000135.4(FANCA):c.11C>A:p.Ser4Ter	coding	Pathogenic/Likely_pathogenic
16	89917760	C	A	C89917760A	MC1R	Single_allele	noncoding	Benign
16	89917970	C	T	C89917970T	MC1R	NM_002386.3(MC1R):c.-1289C>T	noncoding	Benign/Likely_benign
16	89919542	C	T	C89919542T	MC1R	NM_002386.4(MC1R):c.284C>T:p.Thr95Met	coding	Benign/Likely_benign
16	89919659	T	C	T89919659C	MC1R	NM_002386.4(MC1R):c.401T>C:p.Phe134Ser	coding	Benign
16	89919709	C	T	C89919709T	MC1R	NM_002386.4(MC1R):c.451C>T:p.Arg151Cys	coding	Benign
16	89919762	C	T	C89919762T	MC1R	NM_002386.4(MC1R):c.504C>T:p.Ile168=	coding	Benign
16	89919870	C	T	C89919870T	MC1R	NM_002386.4(MC1R):c.612C>T:p.Ala204=	coding	Benign/Likely_benign
16	89919879	C	T	C89919879T	MC1R	NM_002386.4(MC1R):c.621C>T:p.Tyr207=	coding	Benign/Likely_benign
16	89920053	C	G	C89920053G	MC1R	NM_002386.4(MC1R):c.795C>G:p.Val265=	coding	Benign/Likely_benign
16	89920053	C	T	C89920053T	MC1R	NM_002386.4(MC1R):c.795C>T:p.Val265=	coding	Benign
16	89920206	C	T	C89920206T	MC1R	NM_002386.4(MC1R):c.948C>T:p.Ser316=	coding	Benign/Likely_benign
16	89923044	G	A	G89923044A	TUBB3	NM_001197181.2(TUBB3):c.-160+799G>A	noncoding	Benign
16	89932240	T	G	T89932240G	TUBB3	NM_006086.4(TUBB3):c.58-331T>G	noncoding	Benign
16	89932336	C	G	C89932336G	TUBB3	NM_006086.4(TUBB3):c.58-235C>G	noncoding	Benign
16	89932522	C	T	C89932522T	TUBB3	NM_006086.4(TUBB3):c.58-49C>T	noncoding	Benign
16	89932549	C	T	C89932549T	TUBB3	NM_006086.4(TUBB3):c.58-22C>T	noncoding	Benign
16	89932550	C	G	C89932550G	TUBB3	NM_006086.4(TUBB3):c.58-21C>G	noncoding	Benign
16	89933490	C	T	C89933490T	TUBB3	NM_006086.4(TUBB3):c.189C>T:p.Ala63=	coding	Benign
16	89933776	C	T	C89933776T	TUBB3	NM_006086.4(TUBB3):c.277+198C>T	noncoding	Benign
16	89934487	C	T	C89934487T	TUBB3	NM_006086.4(TUBB3):c.278-242C>T	noncoding	Benign
16	89934632	G	C	G89934632C	TUBB3	NM_006086.4(TUBB3):c.278-97G>C	noncoding	Benign
16	89934781	G	A	G89934781A	TUBB3	NM_006086.4(TUBB3):c.330G>A:p.Ala110=	coding	Benign
16	89935134	T	C	T89935134C	TUBB3	NM_006086.4(TUBB3):c.683T>C:p.Leu228Pro	coding	Pathogenic
16	89935214	G	A	G89935214A	TUBB3	NM_006086.4(TUBB3):c.763G>A:p.Val255Ile	coding	Pathogenic/Likely_pathogenic
16	89935521	C	T	C89935521T	TUBB3	NM_006086.4(TUBB3):c.1070C>T:p.Pro357Leu	coding	Pathogenic
16	89935787	G	A	G89935787A	TUBB3	NM_006086.4(TUBB3):c.1336G>A:p.Ala446Thr	coding	Benign/Likely_benign
16	89935882	T	C	T89935882C	TUBB3	NM_006086.4(TUBB3):c.*78T>C	noncoding	Benign
16	89935952	G	A	G89935952A	TUBB3	NM_006086.4(TUBB3):c.*148G>A	noncoding	Benign
16	89936017	C	T	C89936017T	TUBB3	NM_006086.4(TUBB3):c.*213C>T	noncoding	Benign
16	90022379	G	A	G90022379A	GAS8	NM_001286209.2(GAS8):c.-73+2611G>A	noncoding	Benign
16	90022496	C	G	C90022496G	GAS8	NM_001286209.2(GAS8):c.-73+2728C>G	noncoding	Benign
16	90022715	T	G	T90022715G	GAS8	NM_001481.3(GAS8):c.-7T>G	noncoding	Benign
16	90022737	G	A	G90022737A	GAS8	NM_001481.3(GAS8):c.3+13G>A	noncoding	Benign
16	90022899	C	T	C90022899T	GAS8	NM_001481.3(GAS8):c.3+175C>T	noncoding	Benign
16	90022905	C	T	C90022905T	GAS8	NM_001481.3(GAS8):c.3+181C>T	noncoding	Benign
16	90022927	C	T	C90022927T	GAS8	NM_001481.3(GAS8):c.3+203C>T	noncoding	Benign
16	90023055	C	G	C90023055G	GAS8	NM_001481.3(GAS8):c.3+331C>G	noncoding	Benign
16	90027561	T	C	T90027561C	GAS8	NM_001481.3(GAS8):c.4-75T>C	noncoding	Benign
16	90027761	G	A	G90027761A	GAS8	NM_001481.3(GAS8):c.90+39G>A	noncoding	Benign
16	90027787	A	G	A90027787G	GAS8	NM_001481.3(GAS8):c.90+65A>G	noncoding	Benign
16	90027806	C	T	C90027806T	GAS8	NM_001481.3(GAS8):c.90+84C>T	noncoding	Benign
16	90031136	C	T	C90031136T	GAS8	NM_001481.3(GAS8):c.91-163C>T	noncoding	Benign
16	90031340	C	T	C90031340T	GAS8	NM_001481.3(GAS8):c.132C>T:p.Arg44=	coding	Benign
16	90031571	A	G	A90031571G	GAS8	NM_001481.3(GAS8):c.288+75A>G	noncoding	Benign
16	90031587	G	C	G90031587C	GAS8	NM_001481.3(GAS8):c.288+91G>C	noncoding	Benign
16	90031640	G	A	G90031640A	GAS8	NM_001481.3(GAS8):c.288+144G>A	noncoding	Benign
16	90032706	A	G	A90032706G	GAS8	NM_001481.3(GAS8):c.289-12A>G	noncoding	Benign
16	90032940	G	A	G90032940A	GAS8	NM_001481.3(GAS8):c.495+16G>A	noncoding	Benign
16	90033070	A	T	A90033070T	GAS8	NM_001481.3(GAS8):c.495+146A>T	noncoding	Benign
16	90033163	G	A	G90033163A	GAS8	NM_001481.3(GAS8):c.495+239G>A	noncoding	Benign
16	90035419	C	T	C90035419T	GAS8	NM_001481.3(GAS8):c.496-214C>T	noncoding	Benign
16	90035976	C	A	C90035976A	GAS8	NM_001481.3(GAS8):c.550+289C>A	noncoding	Benign
16	90036627	G	A	G90036627A	GAS8	NM_001481.3(GAS8):c.756+41G>A	noncoding	Benign
16	90036679	C	T	C90036679T	GAS8	NM_001481.3(GAS8):c.756+93C>T	noncoding	Benign
16	90036709	G	A	G90036709A	GAS8	NM_001481.3(GAS8):c.756+123G>A	noncoding	Benign
16	90036838	C	G	C90036838G	GAS8	NM_001481.3(GAS8):c.756+252C>G	noncoding	Benign
16	90037043	C	T	C90037043T	GAS8	NM_001481.3(GAS8):c.757-189C>T	noncoding	Benign
16	90037100	C	G	C90037100G	GAS8	NM_001481.3(GAS8):c.757-132C>G	noncoding	Benign
16	90037361	C	T	C90037361T	GAS8	NM_001481.3(GAS8):c.886C>T:p.Gln296Ter	coding	Pathogenic
16	90037611	G	A	G90037611A	GAS8	NM_001481.3(GAS8):c.925-151G>A	noncoding	Benign
16	90038126	G	A	G90038126A	GAS8	NM_001481.3(GAS8):c.1011+278G>A	noncoding	Benign
16	90040117	T	C	T90040117C	GAS8	NM_001481.3(GAS8):c.1012-183T>C	coding	Benign
16	90040689	A	G	A90040689G	GAS8	NM_001481.3(GAS8):c.1221+180A>G	noncoding	Benign
16	90042424	C	T	C90042424T	GAS8	NM_001481.3(GAS8):c.1222-46C>T	noncoding	Benign
16	90042670	G	A	G90042670A	GAS8	NM_001481.3(GAS8):c.1287+135G>A	noncoding	Benign
16	90042736	A	G	A90042736G	GAS8	NM_001481.3(GAS8):c.1287+201A>G	noncoding	Benign
16	90042964	C	T	C90042964T	GAS8	NM_001481.3(GAS8):c.1288-232C>T	coding	Benign
16	90043111	G	A	G90043111A	GAS8	NM_001481.3(GAS8):c.1288-85G>A	coding	Benign
16	90043619	G	A	G90043619A	GAS8	NM_001481.3(GAS8):c.*274G>A	noncoding	Benign
17	519656	G	A	G519656A	VPS53	NM_001128159.3(VPS53):c.2328+170C>T	noncoding	Benign
17	519901	C	T	C519901T	VPS53	NM_001128159.3(VPS53):c.2253G>A:p.Val751=	coding	Benign/Likely_benign
17	521646	G	A	G521646A	VPS53	NM_001128159.3(VPS53):c.2178C>T:p.Thr726=	coding	Benign
17	521859	G	T	G521859T	VPS53	NM_001128159.3(VPS53):c.2086-121C>A	noncoding	Benign
17	532956	A	C	A532956C	VPS53	NM_001128159.3(VPS53):c.2016-45T>G	noncoding	Benign
17	532981	G	C	G532981C	VPS53	NM_001128159.3(VPS53):c.2016-70C>G	noncoding	Benign
17	533068	T	C	T533068C	VPS53	NM_001128159.3(VPS53):c.2016-157A>G	noncoding	Benign
17	536868	A	C	A536868C	VPS53	NM_001128159.3(VPS53):c.2015+160T>G	noncoding	Benign
17	551745	C	A	C551745A	VPS53	NM_001128159.3(VPS53):c.1866+127G>T	noncoding	Benign
17	551992	C	T	C551992T	VPS53	NM_001128159.3(VPS53):c.1788-42G>A	noncoding	Benign
17	552143	C	G	C552143G	VPS53	NM_001128159.3(VPS53):c.1788-193G>C	noncoding	Benign
17	553336	T	G	T553336G	VPS53	NM_001128159.3(VPS53):c.1787+44A>C	noncoding	Benign
17	560603	A	G	A560603G	VPS53	NM_001128159.3(VPS53):c.1557-30T>C	noncoding	Benign
17	562879	G	A	G562879A	VPS53	NM_001128159.3(VPS53):c.1314-134C>T	noncoding	Benign
17	586191	A	C	A586191C	VPS53	NM_001128159.3(VPS53):c.1313+79T>G	noncoding	Benign
17	600978	T	C	T600978C	VPS53	NM_001128159.3(VPS53):c.1218+817A>G	noncoding	Benign
17	601922	A	G	A601922G	VPS53	NM_001128159.3(VPS53):c.1117-26T>C	noncoding	Benign
17	602009	T	C	T602009C	VPS53	NM_001128159.3(VPS53):c.1117-113A>G	noncoding	Benign
17	602010	A	G	A602010G	VPS53	NM_001128159.3(VPS53):c.1117-114T>C	noncoding	Benign
17	602070	C	A	C602070A	VPS53	NM_001128159.3(VPS53):c.1117-174G>T	noncoding	Benign
17	623506	G	A	G623506A	VPS53	NM_001128159.3(VPS53):c.1116+27C>T	noncoding	Benign
17	627099	T	C	T627099C	VPS53	NM_001128159.3(VPS53):c.974+75A>G	noncoding	Benign
17	627345	C	G	C627345G	VPS53	NM_001128159.3(VPS53):c.832-29G>C	noncoding	Benign
17	627550	A	G	A627550G	VPS53	NM_001128159.3(VPS53):c.832-234T>C	noncoding	Benign
17	628489	T	C	T628489C	VPS53	NM_001128159.3(VPS53):c.688-258A>G	noncoding	Benign
17	714860	C	G	C714860G	VPS53	Single_allele	noncoding	Benign
17	744946	G	A	G744946A	GEMIN4	NM_015721.3(GEMIN4):c.3097C>T:p.Arg1033Cys	coding	Benign
17	745258	C	T	C745258T	GEMIN4	NM_015721.3(GEMIN4):c.2785G>A:p.Asp929Asn	coding	Benign
17	745827	A	G	A745827G	GEMIN4	NM_015721.3(GEMIN4):c.2216T>C:p.Ile739Thr	coding	Benign
17	745992	C	T	C745992T	GEMIN4	NM_015721.3(GEMIN4):c.2051G>A:p.Arg684Gln	coding	Benign
17	746265	T	A	T746265A	GEMIN4	NM_015721.3(GEMIN4):c.1778A>T:p.Glu593Val	coding	Benign
17	746307	G	C	G746307C	GEMIN4	NM_015721.3(GEMIN4):c.1736C>G:p.Ala579Gly	coding	Benign
17	746695	G	C	G746695C	GEMIN4	NM_015721.3(GEMIN4):c.1348C>G:p.Gln450Glu	coding	Benign
17	747278	G	A	G747278A	GEMIN4	NM_015721.3(GEMIN4):c.765C>T:p.Asp255=	coding	Benign
17	752053	G	A	G752053A	GEMIN4	NM_015721.3(GEMIN4):c.10+80C>T	noncoding	Benign
17	800777	A	G	A800777G	NXN	NM_022463.5(NXN):c.*172T>C	noncoding	Benign
17	800802	T	G	T800802G	NXN	NM_022463.5(NXN):c.*147A>C	noncoding	Benign
17	800961	C	T	C800961T	NXN	NM_022463.5(NXN):c.1296G>A:p.Pro432=	coding	Benign
17	801240	C	A	C801240A	NXN	NM_022463.5(NXN):c.1126-109G>T	noncoding	Benign
17	801260	G	T	G801260T	NXN	NM_022463.5(NXN):c.1126-129C>A	noncoding	Benign
17	803622	G	C	G803622C	NXN	NM_022463.5(NXN):c.1125+60C>G	noncoding	Benign
17	803822	G	A	G803822A	NXN	NM_022463.5(NXN):c.1001-16C>T	noncoding	Benign
17	803912	G	A	G803912A	NXN	NM_022463.5(NXN):c.1001-106C>T	noncoding	Benign
17	803934	C	G	C803934G	NXN	NM_022463.5(NXN):c.1001-128G>C	noncoding	Benign
17	804983	G	A	G804983A	NXN	NM_022463.5(NXN):c.1000+85C>T	noncoding	Benign
17	805024	G	C	G805024C	NXN	NM_022463.5(NXN):c.1000+44C>G	noncoding	Benign
17	805055	G	A	G805055A	NXN	NM_022463.5(NXN):c.1000+13C>T	noncoding	Benign
17	805105	C	T	C805105T	NXN	NM_022463.5(NXN):c.963G>A:p.Ala321=	coding	Benign
17	805291	T	C	T805291C	NXN	NM_022463.5(NXN):c.821-44A>G	noncoding	Benign
17	805328	G	A	G805328A	NXN	NM_022463.5(NXN):c.821-81C>T	noncoding	Benign
17	819238	G	A	G819238A	NXN	NM_022463.5(NXN):c.820+201C>T	noncoding	Benign
17	819379	G	A	G819379A	NXN	NM_022463.5(NXN):c.820+60C>T	noncoding	Benign
17	819397	G	C	G819397C	NXN	NM_022463.5(NXN):c.820+42C>G	noncoding	Benign
17	819449	G	A	G819449A	NXN	NM_022463.5(NXN):c.810C>T:p.Tyr270=	coding	Benign
17	819485	C	T	C819485T	NXN	NM_022463.5(NXN):c.774G>A:p.Thr258=	coding	Benign
17	819794	A	G	A819794G	NXN	NM_022463.5(NXN):c.714-249T>C	noncoding	Benign
17	822449	G	A	G822449A	NXN	NM_022463.5(NXN):c.621C>T:p.Pro207=	coding	Benign
17	822487	G	A	G822487A	NXN	NM_022463.5(NXN):c.613-30C>T	noncoding	Benign
17	823743	C	T	C823743T	NXN	NM_022463.5(NXN):c.501G>A:p.Pro167=	coding	Benign
17	823892	C	T	C823892T	NXN	NM_022463.5(NXN):c.479-127G>A	noncoding	Benign
17	823930	C	T	C823930T	NXN	NM_022463.5(NXN):c.479-165G>A	noncoding	Benign
17	823932	T	C	T823932C	NXN	NM_022463.5(NXN):c.479-167A>G	noncoding	Benign
17	823954	G	A	G823954A	NXN	NM_022463.5(NXN):c.479-189C>T	noncoding	Benign
17	825957	T	C	T825957C	NXN	NM_022463.5(NXN):c.478+4A>G	noncoding	Benign
17	979322	C	T	C979322T	NXN	NM_022463.5(NXN):c.357G>A:p.Arg119=	coding	Benign
17	979439	G	A	G979439A	NXN	NM_022463.5(NXN):c.240C>T:p.Pro80=	coding	Benign
17	979673	C	G	C979673G	NXN	NM_022463.5(NXN):c.6G>C:p.Ser2=	coding	Benign
17	979753	T	C	T979753C	NXN	NM_022463.5(NXN):c.-75A>G	noncoding	Benign
17	979973	C	G	C979973G	NXN	Single_allele	noncoding	Benign
17	997217	C	A	C997217A	TIMM22	NM_013337.4(TIMM22):c.75C>A:p.Tyr25Ter	coding	Pathogenic
17	999629	A	G	A999629G	TIMM22	NM_013337.4(TIMM22):c.508+45A>G	noncoding	Benign
17	1270496	A	G	A1270496G	BHLHA9	NM_001164405.2(BHLHA9):c.-68A>G	noncoding	Benign
17	1270800	A	G	A1270800G	BHLHA9	NM_001164405.2(BHLHA9):c.237A>G:p.Leu79=	coding	Benign
17	1360904	G	C	G1360904C	YWHAE	NM_006761.5(YWHAE):c.578+188C>G	noncoding	Benign
17	1361027	G	A	G1361027A	YWHAE	NM_006761.5(YWHAE):c.578+65C>T	noncoding	Benign
17	1361317	T	A	T1361317A	YWHAE	NM_006761.5(YWHAE):c.372-19A>T	noncoding	Benign
17	1361770	A	C	A1361770C	YWHAE	NM_006761.5(YWHAE):c.371+132T>G	noncoding	Benign
17	1361991	C	T	C1361991T	YWHAE	NM_006761.5(YWHAE):c.282G>A:p.Lys94=	coding	Benign/Likely_benign
17	1362023	A	T	A1362023T	YWHAE	NM_006761.5(YWHAE):c.265-15T>A	noncoding	Benign
17	1362024	T	A	T1362024A	YWHAE	NM_006761.5(YWHAE):c.265-16A>T	noncoding	Benign
17	1362218	A	G	A1362218G	YWHAE	NM_006761.5(YWHAE):c.265-210T>C	noncoding	Benign
17	1400164	C	G	C1400164G	YWHAE	NM_006761.5(YWHAE):c.-54G>C	noncoding	Benign
17	1400484	C	G	C1400484G	YWHAE	Single_allele	noncoding	Benign
17	1400494	C	A	C1400494A	YWHAE	Single_allele	noncoding	Benign
17	1465529	G	A	G1465529A	MYO1C	NM_001080779.2(MYO1C):c.*197C>T	noncoding	Benign
17	1465617	C	T	C1465617T	MYO1C	NM_001080779.2(MYO1C):c.*109G>A	noncoding	Benign
17	1465784	G	A	G1465784A	MYO1C	NM_001080779.2(MYO1C):c.3166-32C>T	noncoding	Benign
17	1465796	C	T	C1465796T	MYO1C	NM_001080779.2(MYO1C):c.3166-44G>A	noncoding	Benign
17	1466044	T	C	T1466044C	MYO1C	NM_001080779.2(MYO1C):c.3166-292A>G	noncoding	Benign
17	1466072	G	A	G1466072A	MYO1C	NM_001080779.2(MYO1C):c.3166-320C>T	noncoding	Benign
17	1467165	T	C	T1467165C	MYO1C	NM_001080779.2(MYO1C):c.3165+77A>G	noncoding	Benign
17	1467426	C	T	C1467426T	MYO1C	NM_001080779.2(MYO1C):c.3065+54G>A	noncoding	Benign
17	1467629	C	A	C1467629A	MYO1C	NM_001080779.2(MYO1C):c.2968-52G>T	noncoding	Benign
17	1467794	T	C	T1467794C	MYO1C	NM_001080779.2(MYO1C):c.2967+46A>G	noncoding	Benign
17	1467804	A	G	A1467804G	MYO1C	NM_001080779.2(MYO1C):c.2967+36T>C	noncoding	Benign
17	1467829	T	C	T1467829C	MYO1C	NM_001080779.2(MYO1C):c.2967+11A>G	noncoding	Benign
17	1468031	C	T	C1468031T	MYO1C	NM_001080779.2(MYO1C):c.2853G>A:p.Glu951=	coding	Benign
17	1468179	C	G	C1468179G	MYO1C	NM_001080779.2(MYO1C):c.2761-56G>C	noncoding	Benign
17	1468635	C	T	C1468635T	MYO1C	NM_001080779.2(MYO1C):c.2611-139G>A	noncoding	Benign
17	1468681	C	T	C1468681T	MYO1C	NM_001080779.2(MYO1C):c.2611-185G>A	noncoding	Benign
17	1468702	G	A	G1468702A	MYO1C	NM_001080779.2(MYO1C):c.2611-206C>T	noncoding	Benign
17	1468741	G	C	G1468741C	MYO1C	NM_001080779.2(MYO1C):c.2611-245C>G	noncoding	Benign
17	1469342	G	A	G1469342A	MYO1C	NM_001080779.2(MYO1C):c.2610+189C>T	noncoding	Benign
17	1469545	C	T	C1469545T	MYO1C	NM_001080779.2(MYO1C):c.2596G>A:p.Glu866Lys	coding	Benign
17	1470306	C	T	C1470306T	MYO1C	NM_001080779.2(MYO1C):c.2395G>A:p.Ala799Thr	coding	Benign
17	1470342	G	T	G1470342T	MYO1C	NM_001080779.2(MYO1C):c.2367-8C>A	noncoding	Benign
17	1470574	C	T	C1470574T	MYO1C	NM_001080779.2(MYO1C):c.2281+47G>A	noncoding	Benign
17	1470901	G	A	G1470901A	MYO1C	NM_001080779.2(MYO1C):c.2212+170C>T	noncoding	Benign
17	1471205	G	A	G1471205A	MYO1C	NM_001080779.2(MYO1C):c.2135+18C>T	noncoding	Benign
17	1471356	C	G	C1471356G	MYO1C	NM_001080779.2(MYO1C):c.2022-20G>C	noncoding	Benign
17	1471555	C	A	C1471555A	MYO1C	NM_001080779.2(MYO1C):c.2022-219G>T	noncoding	Benign
17	1472060	C	T	C1472060T	MYO1C	NM_001080779.2(MYO1C):c.1904-36G>A	noncoding	Benign
17	1474447	A	G	A1474447G	MYO1C	NM_001080779.2(MYO1C):c.1797+163T>C	noncoding	Benign
17	1474584	T	C	T1474584C	MYO1C	NM_001080779.2(MYO1C):c.1797+26A>G	noncoding	Benign
17	1474586	C	T	C1474586T	MYO1C	NM_001080779.2(MYO1C):c.1797+24G>A	noncoding	Benign
17	1474590	C	T	C1474590T	MYO1C	NM_001080779.2(MYO1C):c.1797+20G>A	noncoding	Benign
17	1474874	C	T	C1474874T	MYO1C	NM_001080779.2(MYO1C):c.1670-16G>A	noncoding	Benign
17	1474875	G	A	G1474875A	MYO1C	NM_001080779.2(MYO1C):c.1670-17C>T	noncoding	Benign
17	1477661	G	T	G1477661T	MYO1C	NM_001080779.2(MYO1C):c.1483-65C>A	noncoding	Benign
17	1477711	T	C	T1477711C	MYO1C	NM_001080779.2(MYO1C):c.1483-115A>G	noncoding	Benign
17	1478140	T	C	T1478140C	MYO1C	NM_001080779.2(MYO1C):c.1348A>G:p.Ile450Val	coding	Benign
17	1478227	T	C	T1478227C	MYO1C	NM_001080779.2(MYO1C):c.1296-35A>G	noncoding	Benign
17	1478349	A	C	A1478349C	MYO1C	NM_001080779.2(MYO1C):c.1295+61T>G	noncoding	Benign
17	1478461	G	A	G1478461A	MYO1C	NM_001080779.2(MYO1C):c.1244C>T:p.Thr415Met	coding	Benign
17	1478703	C	T	C1478703T	MYO1C	NM_001080779.2(MYO1C):c.1125G>A:p.Ala375=	coding	Benign
17	1479237	C	G	C1479237G	MYO1C	NM_001080779.2(MYO1C):c.1092+194G>C	noncoding	Benign
17	1479282	G	C	G1479282C	MYO1C	NM_001080779.2(MYO1C):c.1092+149C>G	noncoding	Benign
17	1479760	A	G	A1479760G	MYO1C	NM_001080779.2(MYO1C):c.907-55T>C	noncoding	Benign
17	1479881	G	C	G1479881C	MYO1C	NM_001080779.2(MYO1C):c.907-176C>G	noncoding	Benign
17	1480373	A	G	A1480373G	MYO1C	NM_001080779.2(MYO1C):c.906+154T>C	noncoding	Benign
17	1480462	C	A	C1480462A	MYO1C	NM_001080779.2(MYO1C):c.906+65G>T	noncoding	Benign
17	1482769	C	G	C1482769G	MYO1C	NM_001080779.2(MYO1C):c.546+92G>C	noncoding	Benign
17	1482800	G	A	G1482800A	MYO1C	NM_001080779.2(MYO1C):c.546+61C>T	noncoding	Benign
17	1482801	G	C	G1482801C	MYO1C	NM_001080779.2(MYO1C):c.546+60C>G	noncoding	Benign
17	1483533	G	C	G1483533C	MYO1C	NM_001080779.2(MYO1C):c.347+77C>G	noncoding	Benign
17	1484244	C	T	C1484244T	MYO1C	NM_001080779.2(MYO1C):c.135G>A:p.Arg45=	coding	Benign
17	1484390	C	T	C1484390T	MYO1C	NM_001080779.2(MYO1C):c.76-87G>A	noncoding	Benign
17	1485712	C	T	C1485712T	MYO1C	NM_001080779.2(MYO1C):c.76-1409G>A	coding	Benign
17	1492388	C	T	C1492388T	MYO1C	NM_001080779.2(MYO1C):c.75+25G>A	noncoding	Benign
17	1492903	C	G	C1492903G	MYO1C	Single_allele	noncoding	Benign
17	1493036	C	T	C1493036T	MYO1C	Single_allele	noncoding	Benign
17	1513549	C	A	C1513549A	INPP5K	NM_016532.4(INPP5K):c.165G>T:p.Leu55Phe	coding	Pathogenic
17	1516559	C	A	C1516559A	INPP5K	NM_016532.4(INPP5K):c.-60G>T	noncoding	Benign
17	1650880	C	G	C1650880G	PRPF8	NM_006445.4(PRPF8):c.6930G>C:p.Arg2310Ser	coding	Pathogenic
17	1653857	C	T	C1653857T	PRPF8	NM_006445.4(PRPF8):c.6147G>A:p.Lys2049=	coding	Benign
17	1655529	G	A	G1655529A	PRPF8	NM_006445.4(PRPF8):c.5808C>T:p.Leu1936=	coding	Benign
17	1656393	G	A	G1656393A	PRPF8	NM_006445.4(PRPF8):c.5792C>T:p.Thr1931Met	coding	Pathogenic/Likely_pathogenic
17	1656437	G	A	G1656437A	PRPF8	NM_006445.4(PRPF8):c.5748C>T:p.Leu1916=	coding	Benign
17	1656632	C	G	C1656632G	PRPF8	NM_006445.4(PRPF8):c.5619+16G>C	noncoding	Benign
17	1658292	G	A	G1658292A	PRPF8	NM_006445.4(PRPF8):c.5466C>T:p.Ile1822=	coding	Benign/Likely_benign
17	1658394	G	A	G1658394A	PRPF8	NM_006445.4(PRPF8):c.5377-13C>T	noncoding	Benign
17	1660419	G	A	G1660419A	PRPF8	NM_006445.4(PRPF8):c.4785+13C>T	noncoding	Benign
17	1660528	G	A	G1660528A	PRPF8	NM_006445.4(PRPF8):c.4689C>T:p.His1563=	coding	Benign
17	1660543	C	T	C1660543T	PRPF8	NM_006445.4(PRPF8):c.4674G>A:p.Thr1558=	coding	Benign
17	1660595	A	C	A1660595C	PRPF8	NM_006445.4(PRPF8):c.4639-17T>G	noncoding	Benign
17	1660687	A	G	A1660687G	PRPF8	NM_006445.4(PRPF8):c.4638+11T>C	noncoding	Benign
17	1661182	C	T	C1661182T	PRPF8	NM_006445.4(PRPF8):c.4339-20G>A	noncoding	Benign
17	1673344	G	A	G1673344A	PRPF8	NM_006445.4(PRPF8):c.3657+13C>T	noncoding	Benign/Likely_benign
17	1673579	G	A	G1673579A	PRPF8	NM_006445.4(PRPF8):c.3447-12C>T	noncoding	Benign/Likely_benign
17	1675988	G	A	G1675988A	PRPF8	NM_006445.4(PRPF8):c.2619C>T:p.Asn873=	coding	Benign/Likely_benign
17	1676242	G	A	G1676242A	PRPF8	NM_006445.4(PRPF8):c.2517C>T:p.Leu839=	coding	Benign
17	1676511	G	A	G1676511A	PRPF8	NM_006445.4(PRPF8):c.2382C>T:p.Tyr794=	coding	Benign/Likely_benign
17	1677698	C	T	C1677698T	PRPF8	NM_006445.4(PRPF8):c.1855-4G>A	noncoding	Benign
17	1679225	G	C	G1679225C	PRPF8	NM_006445.4(PRPF8):c.1410-19C>G	noncoding	Benign
17	1679596	G	A	G1679596A	PRPF8	NM_006445.4(PRPF8):c.1289+13C>T	noncoding	Benign/Likely_benign
17	1679807	A	G	A1679807G	PRPF8	NM_006445.4(PRPF8):c.1099-8T>C	noncoding	Benign/Likely_benign
17	1680911	G	T	G1680911T	PRPF8	NM_006445.4(PRPF8):c.992+18C>A	noncoding	Benign
17	1681654	G	A	G1681654A	PRPF8	NM_006445.4(PRPF8):c.690C>T:p.Phe230=	coding	Benign/Likely_benign
17	1681803	C	T	C1681803T	PRPF8	NM_006445.4(PRPF8):c.653+17G>A	noncoding	Benign
17	1681870	G	A	G1681870A	PRPF8	NM_006445.4(PRPF8):c.603C>T:p.Ala201=	coding	Benign
17	1683719	T	C	T1683719C	PRPF8	NM_006445.4(PRPF8):c.101-18A>G	noncoding	Benign
17	1684500	G	A	G1684500A	PRPF8	NM_006445.4(PRPF8):c.72C>T:p.Tyr24=	coding	Benign
17	1726675	C	T	C1726675T	WDR81	NM_001163809.2(WDR81):c.1716C>T:p.His572=	coding	Benign
17	1727290	A	G	A1727290G	WDR81	NM_001163809.2(WDR81):c.2331A>G:p.Leu777=	coding	Benign
17	1727698	G	A	G1727698A	WDR81	NM_001163809.2(WDR81):c.2739G>A:p.Leu913=	coding	Benign
17	1730810	C	T	C1730810T	WDR81	NM_001163809.2(WDR81):c.3831C>T:p.Ala1277=	coding	Benign
17	1732320	T	C	T1732320C	WDR81	NM_001163809.2(WDR81):c.4158-5T>C	noncoding	Benign
17	1732658	G	A	G1732658A	WDR81	NM_001163809.2(WDR81):c.4324-8G>A	noncoding	Benign/Likely_benign
17	1733656	C	A	C1733656A	WDR81	NM_001163809.2(WDR81):c.4619C>A:p.Pro1540His	coding	Benign
17	1733780	A	G	A1733780G	WDR81	NM_001163809.2(WDR81):c.4743A>G:p.Pro1581=	coding	Benign
17	1736164	A	G	A1736164G	WDR81	NM_001163809.2(WDR81):c.5451A>G:p.Thr1817=	coding	Benign
17	1737346	C	G	C1737346G	WDR81	NM_001163809.2(WDR81):c.5506-19C>G	noncoding	Benign
17	1737415	C	T	C1737415T	WDR81	NM_001163809.2(WDR81):c.5556C>T:p.Thr1852=	coding	Benign
17	1737499	C	T	C1737499T	WDR81	NM_001163809.2(WDR81):c.5640C>T:p.Ser1880=	coding	Benign
17	1737741	A	G	A1737741G	WDR81	NM_001163809.2(WDR81):c.*56A>G	noncoding	Benign
17	1745973	A	G	A1745973G	SERPINF2	NM_000934.4(SERPINF2):c.367+64A>G	noncoding	Benign
17	1746874	C	T	C1746874T	SERPINF2	NM_000934.4(SERPINF2):c.368-145C>T	noncoding	Benign
17	1748486	A	G	A1748486G	SERPINF2	NM_000934.4(SERPINF2):c.716-112A>G	noncoding	Benign
17	1752921	G	A	G1752921A	SERPINF2	NM_000934.4(SERPINF2):c.1063+131G>A	noncoding	Benign
17	1754165	C	T	C1754165T	SERPINF2	NM_000934.4(SERPINF2):c.1107C>T:p.Ser369=	coding	Benign/Likely_benign
17	1754605	G	T	G1754605T	SERPINF2	NM_000934.4(SERPINF2):c.*71G>T	noncoding	Benign
17	1762036	C	A	C1762036A	SERPINF1	NM_002615.6(SERPINF1):c.-86C>A	noncoding	Benign/Likely_benign
17	1762309	G	A	G1762309A	SERPINF1	NM_002615.7(SERPINF1):c.-9+196G>A	noncoding	Benign
17	1767034	G	A	G1767034A	SERPINF1	NM_002615.7(SERPINF1):c.84+40G>A	noncoding	Benign
17	1767205	A	C	A1767205C	SERPINF1	NM_002615.7(SERPINF1):c.84+211A>C	noncoding	Benign
17	1770045	C	A	C1770045A	SERPINF1	NM_002615.7(SERPINF1):c.278C>A:p.Ser93Ter	coding	Pathogenic
17	1770111	G	A	G1770111A	SERPINF1	NM_002615.7(SERPINF1):c.283+61G>A	noncoding	Benign
17	1776510	C	T	C1776510T	SERPINF1	NM_002615.7(SERPINF1):c.787-22C>T	noncoding	Benign
17	1776670	C	T	C1776670T	SERPINF1	NM_002615.7(SERPINF1):c.925C>T:p.Gln309Ter	coding	Pathogenic
17	1776898	A	T	A1776898T	SERPINF1	NM_002615.7(SERPINF1):c.997+156A>T	noncoding	Benign
17	1777024	A	G	A1777024G	SERPINF1	NM_002615.7(SERPINF1):c.998-163A>G	noncoding	Benign
17	1777754	G	C	G1777754C	SERPINF1	Single_allele	noncoding	Benign
17	1801002	C	A	C1801002A	SMYD4	NM_052928.3(SMYD4):c.392G>T:p.Arg131Ile	coding	Benign
17	1877304	T	C	T1877304C	RPA1	NM_002945.5(RPA1):c.680T>C:p.Val227Ala	coding	Pathogenic
17	1879020	G	A	G1879020A	RPA1	NM_002945.5(RPA1):c.718G>A:p.Glu240Lys	coding	Pathogenic
17	2036208	G	A	G2036208A	DPH1	NM_001383.6(DPH1):c.400+117G>A	noncoding	Benign
17	2036604	T	C	T2036604C	DPH1	NM_001383.6(DPH1):c.476T>C:p.Leu159Pro	coding	Pathogenic
17	2040594	T	C	T2040594C	DPH1	NM_001383.6(DPH1):c.996T>C:p.Pro332=	coding	Benign
17	2041747	A	G	A2041747G	DPH1	NM_001383.6(DPH1):c.1228-21A>G	noncoding	Benign
17	2042327	G	T	G2042327T	DPH1	NM_001383.6(DPH1):c.*19-278G>T	noncoding	Benign
17	2042400	C	T	C2042400T	DPH1	NM_001383.6(DPH1):c.*19-205C>T	noncoding	Benign
17	2042450	C	T	C2042450T	DPH1	NM_001383.6(DPH1):c.*19-155C>T	noncoding	Benign
17	2593443	C	T	C2593443T	PAFAH1B1	Single_allele	noncoding	Benign
17	2595566	A	G	A2595566G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.-191+1560A>G	noncoding	Benign
17	2665457	G	C	G2665457C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.117+1G>C	coding	Pathogenic
17	2666062	G	A	G2666062A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.164G>A:p.Trp55Ter	coding	Pathogenic
17	2666264	T	C	T2666264C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.192+174T>C	noncoding	Benign
17	2667142	A	G	A2667142G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.343A>G:p.Ile115Val	coding	Benign
17	2667167	T	A	T2667167A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.368T>A:p.Met123Lys	coding	Pathogenic
17	2667203	T	C	T2667203C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.399+5T>C	noncoding	Benign
17	2670188	T	C	T2670188C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.425T>C:p.Phe142Ser	coding	Pathogenic
17	2670190	G	T	G2670190T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.427G>T:p.Glu143Ter	coding	Pathogenic
17	2670246	C	T	C2670246T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.483C>T:p.Ser161=	coding	Benign
17	2670330	C	T	C2670330T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.567C>T:p.His189=	coding	Benign
17	2670612	T	G	T2670612G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.568+281T>G	noncoding	Benign
17	2672742	G	A	G2672742A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.656G>A:p.Trp219Ter	coding	Pathogenic
17	2674096	G	A	G2674096A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.708G>A:p.Trp236Ter	coding	Pathogenic
17	2674175	G	A	G2674175A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.787G>A:p.Val263Ile	coding	Benign
17	2674231	C	A	C2674231A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.843C>A:p.Cys281Ter	coding	Pathogenic
17	2676426	C	G	C2676426G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.901-79C>G	noncoding	Benign
17	2680271	G	A	G2680271A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1110G>A:p.Lys370=	coding	Benign/Likely_benign
17	2680297	A	G	A2680297G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1136A>G:p.His379Arg	coding	Pathogenic
17	2680328	C	T	C2680328T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1159+8C>T	noncoding	Benign
17	3476161	T	C	T3476161C	ASPA	NM_000049.4(ASPA):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
17	3476193	C	T	C3476193T	ASPA	NM_000049.4(ASPA):c.34C>T:p.Gln12Ter	coding	Pathogenic
17	3476206	T	C	T3476206C	ASPA	NM_000049.4(ASPA):c.47T>C:p.Ile16Thr	coding	Pathogenic/Likely_pathogenic
17	3476260	G	A	G3476260A	ASPA	NM_000049.4(ASPA):c.101G>A:p.Trp34Ter	coding	Pathogenic
17	3476283	C	T	C3476283T	ASPA	NM_000049.4(ASPA):c.124C>T:p.Gln42Ter	coding	Pathogenic
17	3476321	C	A	C3476321A	ASPA	NM_000049.4(ASPA):c.162C>A:p.Asn54Lys	coding	Pathogenic/Likely_pathogenic
17	3476370	C	A	C3476370A	ASPA	NM_000049.4(ASPA):c.211C>A:p.Arg71Ser	coding	Pathogenic
17	3476521	T	C	T3476521C	ASPA	NM_000049.4(ASPA):c.236+126T>C	noncoding	Benign
17	3476548	T	C	T3476548C	ASPA	NM_000049.4(ASPA):c.236+153T>C	noncoding	Benign
17	3481792	C	A	C3481792A	ASPA	NM_000049.4(ASPA):c.426C>A:p.Tyr142Ter	coding	Pathogenic
17	3481955	A	C	A3481955C	ASPA	NM_000049.4(ASPA):c.432+157A>C	noncoding	Benign
17	3482085	A	T	A3482085T	ASPA	NM_000049.4(ASPA):c.432+287A>T	noncoding	Benign
17	3483264	T	C	T3483264C	ASPA	NM_000049.4(ASPA):c.433-235T>C	noncoding	Benign
17	3483592	G	A	G3483592A	ASPA	NM_000049.4(ASPA):c.526G>A:p.Gly176Ser	coding	Pathogenic
17	3488913	A	G	A3488913G	ASPA	NM_000049.4(ASPA):c.527-322A>G	noncoding	Benign
17	3489256	C	A	C3489256A	ASPA	NM_000049.4(ASPA):c.548C>A:p.Pro183His	coding	Pathogenic/Likely_pathogenic
17	3489288	C	T	C3489288T	ASPA	NM_000049.4(ASPA):c.580C>T:p.Gln194Ter	coding	Pathogenic/Likely_pathogenic
17	3489644	A	C	A3489644C	ASPA	NM_000049.4(ASPA):c.634+302A>C	noncoding	Benign
17	3494601	C	T	C3494601T	ASPA	NM_000049.4(ASPA):c.744+142C>T	noncoding	Benign
17	3494675	G	A	G3494675A	ASPA	NM_000049.4(ASPA):c.744+216G>A	noncoding	Benign
17	3514359	A	G	A3514359G	TRPV3	NM_145068.4(TRPV3):c.2278+234T>C	noncoding	Benign
17	3514733	G	A	G3514733A	TRPV3	NM_145068.4(TRPV3):c.2199-61C>T	noncoding	Benign
17	3514910	A	G	A3514910G	TRPV3	NM_145068.4(TRPV3):c.2199-238T>C	noncoding	Benign
17	3516395	C	T	C3516395T	TRPV3	NM_145068.4(TRPV3):c.2198+62G>A	noncoding	Benign
17	3516396	A	G	A3516396G	TRPV3	NM_145068.4(TRPV3):c.2198+61T>C	noncoding	Benign
17	3519059	A	G	A3519059G	TRPV3	NM_145068.4(TRPV3):c.1811-209T>C	noncoding	Benign
17	3519072	C	A	C3519072A	TRPV3	NM_145068.4(TRPV3):c.1811-222G>T	noncoding	Benign
17	3520889	A	G	A3520889G	TRPV3	NM_145068.4(TRPV3):c.1810+84T>C	noncoding	Benign
17	3521213	T	C	T3521213C	TRPV3	NM_145068.4(TRPV3):c.1744-174A>G	noncoding	Benign
17	3524148	A	G	A3524148G	TRPV3	NM_145068.4(TRPV3):c.1743+50T>C	noncoding	Benign
17	3526977	A	G	A3526977G	TRPV3	NM_145068.4(TRPV3):c.1504-50T>C	noncoding	Benign
17	3527093	G	A	G3527093A	TRPV3	NM_145068.4(TRPV3):c.1504-166C>T	noncoding	Benign
17	3527201	C	T	C3527201T	TRPV3	NM_145068.4(TRPV3):c.1504-274G>A	noncoding	Benign
17	3527689	G	A	G3527689A	TRPV3	NM_145068.4(TRPV3):c.1503+336C>T	noncoding	Benign
17	3527871	C	A	C3527871A	TRPV3	NM_145068.4(TRPV3):c.1503+154G>T	noncoding	Benign
17	3528238	G	A	G3528238A	TRPV3	NM_145068.4(TRPV3):c.1402-112C>T	noncoding	Benign
17	3528392	G	A	G3528392A	TRPV3	NM_145068.4(TRPV3):c.1402-266C>T	noncoding	Benign
17	3528675	T	C	T3528675C	TRPV3	NM_145068.4(TRPV3):c.1401+162A>G	noncoding	Benign
17	3529308	T	C	T3529308C	TRPV3	NM_145068.4(TRPV3):c.1243-313A>G	noncoding	Benign
17	3530207	G	C	G3530207C	TRPV3	NM_145068.4(TRPV3):c.1066-4C>G	noncoding	Benign
17	3530249	A	G	A3530249G	TRPV3	NM_145068.4(TRPV3):c.1066-46T>C	noncoding	Benign
17	3530255	A	C	A3530255C	TRPV3	NM_145068.4(TRPV3):c.1066-52T>G	noncoding	Benign
17	3530301	C	T	C3530301T	TRPV3	NM_145068.4(TRPV3):c.1066-98G>A	noncoding	Benign
17	3530378	C	A	C3530378A	TRPV3	NM_145068.4(TRPV3):c.1066-175G>T	noncoding	Benign
17	3530462	A	G	A3530462G	TRPV3	NM_145068.4(TRPV3):c.1066-259T>C	noncoding	Benign
17	3532397	C	T	C3532397T	TRPV3	NM_145068.4(TRPV3):c.1065+260G>A	noncoding	Benign
17	3532578	A	G	A3532578G	TRPV3	NM_145068.4(TRPV3):c.1065+79T>C	noncoding	Benign
17	3532641	C	A	C3532641A	TRPV3	NM_145068.4(TRPV3):c.1065+16G>T	noncoding	Benign
17	3535955	C	A	C3535955A	TRPV3	NM_145068.4(TRPV3):c.644-242G>T	noncoding	Benign
17	3535966	T	G	T3535966G	TRPV3	NM_145068.4(TRPV3):c.644-253A>C	noncoding	Benign
17	3543836	C	T	C3543836T	TRPV3	NM_145068.4(TRPV3):c.312-208G>A	noncoding	Benign
17	3544967	T	C	T3544967C	TRPV3	NM_145068.4(TRPV3):c.224+200A>G	noncoding	Benign
17	3544978	C	T	C3544978T	TRPV3	NM_145068.4(TRPV3):c.224+189G>A	noncoding	Benign
17	3545037	A	T	A3545037T	TRPV3	NM_145068.4(TRPV3):c.224+130T>A	noncoding	Benign
17	3545428	G	A	G3545428A	TRPV3	NM_145068.4(TRPV3):c.120-157C>T	noncoding	Benign
17	3554460	C	G	C3554460G	TRPV3	NM_145068.4(TRPV3):c.119+272G>C	noncoding	Benign
17	3554584	T	C	T3554584C	TRPV3	NM_145068.4(TRPV3):c.119+148A>G	noncoding	Benign
17	3623343	C	T	C3623343T	SHPK	NM_013276.4(SHPK):c.643G>A:p.Glu215Lys	coding	Benign
17	3636287	G	T	G3636287T	CTNS	Single_allele	noncoding	Benign
17	3636333	A	T	A3636333T	CTNS	Single_allele	noncoding	Benign
17	3636418	G	T	G3636418T	CTNS	NG_012489.2:g.4951G>T	noncoding	Pathogenic
17	3636426	G	C	G3636426C	CTNS	NM_004937.3(CTNS):c.-635G>C	noncoding	Benign
17	3639977	A	G	A3639977G	CTNS	NM_004937.3(CTNS):c.-19-211A>G	noncoding	Benign
17	3640207	A	T	A3640207T	CTNS	NM_004937.3(CTNS):c.1A>T:p.Met1Leu	coding	Pathogenic
17	3640267	G	T	G3640267T	CTNS	NM_004937.3(CTNS):c.61G>T:p.Glu21Ter	coding	Pathogenic
17	3647220	C	T	C3647220T	CTNS	NM_004937.3(CTNS):c.62-224C>T	noncoding	Benign
17	3648744	G	A	G3648744A	CTNS	NM_004937.3(CTNS):c.141-103G>A	noncoding	Benign
17	3648932	G	A	G3648932A	CTNS	NM_004937.3(CTNS):c.225+1G>A	coding	Pathogenic/Likely_pathogenic
17	3649078	G	C	G3649078C	CTNS	NM_004937.3(CTNS):c.225+147G>C	noncoding	Benign
17	3655034	C	A	C3655034A	CTNS	NM_004937.3(CTNS):c.262C>A:p.Gln88Lys	coding	Pathogenic
17	3655046	C	T	C3655046T	CTNS	NM_004937.3(CTNS):c.274C>T:p.Gln92Ter	coding	Pathogenic
17	3655307	C	T	C3655307T	CTNS	NM_004937.3(CTNS):c.416C>T:p.Ser139Phe	coding	Pathogenic/Likely_pathogenic
17	3655340	G	A	G3655340A	CTNS	NM_004937.3(CTNS):c.449G>A:p.Trp150Ter	coding	Pathogenic
17	3655401	A	G	A3655401G	CTNS	NM_004937.3(CTNS):c.461+49A>G	noncoding	Benign
17	3655669	C	A	C3655669A	CTNS	NM_004937.3(CTNS):c.461+317C>A	noncoding	Benign
17	3656498	T	C	T3656498C	CTNS	NM_004937.3(CTNS):c.473T>C:p.Leu158Pro	coding	Pathogenic
17	3658058	G	A	G3658058A	CTNS	NM_004937.3(CTNS):c.735G>A:p.Trp245Ter	coding	Pathogenic
17	3658403	G	A	G3658403A	CTNS	NM_004937.3(CTNS):c.852+228G>A	noncoding	Benign
17	3658417	C	G	C3658417G	CTNS	NM_004937.3(CTNS):c.852+242C>G	noncoding	Benign
17	3658418	A	G	A3658418G	CTNS	NM_004937.3(CTNS):c.852+243A>G	noncoding	Benign
17	3658434	C	G	C3658434G	CTNS	NM_004937.3(CTNS):c.852+259C>G	noncoding	Benign
17	3658456	T	C	T3658456C	CTNS	NM_004937.3(CTNS):c.852+281T>C	noncoding	Benign
17	3659980	G	A	G3659980A	CTNS	NM_004937.3(CTNS):c.970+5G>A	noncoding	Pathogenic
17	3660020	C	T	C3660020T	CTNS	NM_004937.3(CTNS):c.970+45C>T	noncoding	Benign
17	3660045	C	T	C3660045T	CTNS	NM_004937.3(CTNS):c.970+70C>T	noncoding	Benign
17	3664718	A	G	A3664718G	TAX1BP3	NM_014604.4(TAX1BP3):c.120T>C:p.Asp40=	coding	Benign
17	3679584	C	T	C3679584T	P2RX5	NM_002561.4(P2RX5):c.1259+6G>A	noncoding	Benign
17	3753865	C	T	C3753865T	ITGAE	NM_002208.5(ITGAE):c.1445G>A:p.Arg482Gln	coding	Benign
17	3897701	T	C	T3897701C	P2RX1	NM_002558.4(P2RX1):c.*113A>G	noncoding	Benign
17	3897729	G	A	G3897729A	P2RX1	NM_002558.4(P2RX1):c.*85C>T	noncoding	Benign
17	3897786	C	T	C3897786T	P2RX1	NM_002558.4(P2RX1):c.*28G>A	noncoding	Benign
17	3898140	G	A	G3898140A	P2RX1	NM_002558.4(P2RX1):c.1033-30C>T	noncoding	Benign
17	3903370	T	A	T3903370A	P2RX1	NM_002558.4(P2RX1):c.606-27A>T	noncoding	Benign
17	3903500	C	G	C3903500G	P2RX1	NM_002558.4(P2RX1):c.605+51G>C	noncoding	Benign
17	3903750	T	C	T3903750C	P2RX1	NM_002558.4(P2RX1):c.525-119A>G	noncoding	Benign
17	3904738	A	G	A3904738G	P2RX1	NM_002558.4(P2RX1):c.357+120T>C	noncoding	Benign
17	3905419	T	C	T3905419C	P2RX1	NM_002558.4(P2RX1):c.138-52A>G	noncoding	Benign
17	3916706	A	G	A3916706G	P2RX1	Single_allele	noncoding	Benign
17	3916870	A	C	A3916870C	P2RX1	Single_allele	noncoding	Benign
17	3916945	G	C	G3916945C	P2RX1	Single_allele	noncoding	Benign
17	4044350	T	C	T4044350C	ZZEF1	NM_015113.4(ZZEF1):c.6040A>G:p.Ile2014Val	coding	Benign
17	4167951	C	T	C4167951T	ANKFY1	NM_001330063.2(ANKFY1):c.3378-40G>A	noncoding	Benign
17	4168008	G	C	G4168008C	ANKFY1	NM_001330063.2(ANKFY1):c.3378-97C>G	noncoding	Benign
17	4168032	C	G	C4168032G	ANKFY1	NM_001330063.2(ANKFY1):c.3378-121G>C	noncoding	Benign
17	4169413	G	A	G4169413A	ANKFY1	NM_001330063.2(ANKFY1):c.3287-125C>T	noncoding	Benign
17	4169467	G	C	G4169467C	ANKFY1	NM_001330063.2(ANKFY1):c.3287-179C>G	noncoding	Benign
17	4170967	A	C	A4170967C	ANKFY1	NM_001330063.2(ANKFY1):c.3140-106T>G	noncoding	Benign
17	4173320	C	T	C4173320T	ANKFY1	NM_001330063.2(ANKFY1):c.3014+34G>A	noncoding	Benign
17	4173702	G	A	G4173702A	ANKFY1	NM_001330063.2(ANKFY1):c.2923+207C>T	noncoding	Benign
17	4174190	G	A	G4174190A	ANKFY1	NM_001330063.2(ANKFY1):c.2776-134C>T	noncoding	Benign
17	4178680	G	A	G4178680A	ANKFY1	NM_001330063.2(ANKFY1):c.2598+177C>T	noncoding	Benign
17	4179925	G	A	G4179925A	ANKFY1	NM_001330063.2(ANKFY1):c.2241-48C>T	noncoding	Benign
17	4179947	T	C	T4179947C	ANKFY1	NM_001330063.2(ANKFY1):c.2241-70A>G	noncoding	Benign
17	4181313	C	T	C4181313T	ANKFY1	NM_001330063.2(ANKFY1):c.2181G>A:p.Thr727=	coding	Benign
17	4181522	C	G	C4181522G	ANKFY1	NM_001330063.2(ANKFY1):c.2122-150G>C	noncoding	Benign
17	4182027	G	A	G4182027A	ANKFY1	NM_001330063.2(ANKFY1):c.2121+154C>T	noncoding	Benign
17	4182539	C	A	C4182539A	ANKFY1	NM_001330063.2(ANKFY1):c.1953-190G>T	noncoding	Benign
17	4184619	C	T	C4184619T	ANKFY1	NM_001330063.2(ANKFY1):c.1699+199G>A	noncoding	Benign
17	4184996	C	T	C4184996T	ANKFY1	NM_001330063.2(ANKFY1):c.1521G>A:p.Thr507=	coding	Benign
17	4197296	C	T	C4197296T	ANKFY1	NM_001330063.2(ANKFY1):c.1103+77G>A	noncoding	Benign
17	4206427	G	A	G4206427A	ANKFY1	NM_001330063.2(ANKFY1):c.792C>T:p.Leu264=	coding	Benign
17	4209627	G	C	G4209627C	ANKFY1	NM_001330063.2(ANKFY1):c.582+197C>G	noncoding	Benign
17	4217199	G	C	G4217199C	ANKFY1	NM_001330063.2(ANKFY1):c.323-81C>G	noncoding	Benign
17	4235572	T	A	T4235572A	ANKFY1	NM_001330063.2(ANKFY1):c.322+200A>T	noncoding	Benign
17	4235573	C	A	C4235573A	ANKFY1	NM_001330063.2(ANKFY1):c.322+199G>T	noncoding	Benign
17	4236063	A	G	A4236063G	ANKFY1	NM_001330063.2(ANKFY1):c.204-173T>C	noncoding	Benign
17	4242479	G	A	G4242479A	ANKFY1	NM_001330063.2(ANKFY1):c.11-31C>T	noncoding	Benign
17	4242523	T	C	T4242523C	ANKFY1	NM_001330063.2(ANKFY1):c.11-75A>G	noncoding	Benign
17	4263509	C	T	C4263509T	ANKFY1	NM_001330063.2(ANKFY1):c.10+423G>A	noncoding	Benign
17	4264198	C	T	C4264198T	ANKFY1	Single_allele	noncoding	Benign
17	4264210	C	T	C4264210T	ANKFY1	Single_allele	noncoding	Benign
17	4498679	G	A	G4498679A	SPNS2	Single_allele	noncoding	Benign
17	4498895	G	C	G4498895C	SPNS2	NM_001124758.3(SPNS2):c.-153G>C	noncoding	Benign
17	4499508	T	C	T4499508C	SPNS2	NM_001124758.3(SPNS2):c.370+91T>C	noncoding	Benign
17	4513343	G	A	G4513343A	SPNS2	NM_001124758.3(SPNS2):c.436+31G>A	noncoding	Benign
17	4513379	T	C	T4513379C	SPNS2	NM_001124758.3(SPNS2):c.436+67T>C	noncoding	Benign
17	4525245	G	T	G4525245T	SPNS2	NM_001124758.3(SPNS2):c.573+52G>T	noncoding	Benign
17	4530528	C	G	C4530528G	SPNS2	NM_001124758.3(SPNS2):c.574-104C>G	noncoding	Benign
17	4531155	C	T	C4531155T	SPNS2	NM_001124758.3(SPNS2):c.792+36C>T	noncoding	Benign
17	4531176	G	C	G4531176C	SPNS2	NM_001124758.3(SPNS2):c.792+57G>C	noncoding	Benign
17	4532372	G	A	G4532372A	SPNS2	NM_001124758.3(SPNS2):c.793-170G>A	noncoding	Benign
17	4532710	T	C	T4532710C	SPNS2	NM_001124758.3(SPNS2):c.935+26T>C	noncoding	Benign
17	4533574	C	T	C4533574T	SPNS2	NM_001124758.3(SPNS2):c.1278+142C>T	noncoding	Benign
17	4533602	G	A	G4533602A	SPNS2	NM_001124758.3(SPNS2):c.1278+170G>A	noncoding	Benign
17	4533636	G	A	G4533636A	SPNS2	NM_001124758.3(SPNS2):c.1279-152G>A	noncoding	Benign
17	4533919	C	T	C4533919T	SPNS2	NM_001124758.3(SPNS2):c.1344+66C>T	noncoding	Benign
17	4535987	G	A	G4535987A	SPNS2	NM_001124758.3(SPNS2):c.1345-89G>A	noncoding	Benign
17	4536018	A	G	A4536018G	SPNS2	NM_001124758.3(SPNS2):c.1345-58A>G	noncoding	Benign
17	4536201	C	A	C4536201A	SPNS2	NM_001124758.3(SPNS2):c.1443+27C>A	noncoding	Benign
17	4536202	A	G	A4536202G	SPNS2	NM_001124758.3(SPNS2):c.1443+28A>G	noncoding	Benign
17	4536206	C	G	C4536206G	SPNS2	NM_001124758.3(SPNS2):c.1443+32C>G	noncoding	Benign
17	4536217	A	G	A4536217G	SPNS2	NM_001124758.3(SPNS2):c.1443+43A>G	noncoding	Benign
17	4536220	G	T	G4536220T	SPNS2	NM_001124758.3(SPNS2):c.1444-43G>T	noncoding	Benign
17	4536237	T	C	T4536237C	SPNS2	NM_001124758.3(SPNS2):c.1444-26T>C	noncoding	Benign
17	4536500	C	G	C4536500G	SPNS2	NM_001124758.3(SPNS2):c.1607+74C>G	noncoding	Benign
17	4536514	G	C	G4536514C	SPNS2	NM_001124758.3(SPNS2):c.1607+88G>C	noncoding	Benign
17	4536533	A	C	A4536533C	SPNS2	NM_001124758.3(SPNS2):c.1607+107A>C	noncoding	Benign
17	4536886	C	T	C4536886T	SPNS2	NM_001124758.3(SPNS2):c.1608-14C>T	noncoding	Benign
17	4555303	G	C	G4555303C	MYBBP1A	NM_014520.4(MYBBP1A):c.22C>G:p.Gln8Glu	coding	Benign
17	4631740	G	A	G4631740A	ALOX15	NM_001140.5(ALOX15):c.1849C>T:p.Pro617Ser	coding	Benign
17	4742018	C	T	C4742018T	ZMYND15	NM_001136046.3(ZMYND15):c.931C>T:p.Arg311Ter	coding	Pathogenic
17	4743367	T	A	T4743367A	ZMYND15	NM_001136046.3(ZMYND15):c.1209T>A:p.Tyr403Ter	coding	Pathogenic
17	4898877	C	T	C4898877T	CHRNE	NM_000080.4(CHRNE):c.1341G>A:p.Trp447Ter	coding	Pathogenic
17	4898999	A	G	A4898999G	CHRNE	NM_000080.4(CHRNE):c.1326+2T>C	noncoding	Pathogenic
17	4899072	C	A	C4899072A	CHRNE	NM_000080.4(CHRNE):c.1255G>T:p.Glu419Ter	coding	Pathogenic
17	4899196	A	C	A4899196C	CHRNE	NM_000080.4(CHRNE):c.1219+2T>G	noncoding	Pathogenic
17	4899203	C	T	C4899203T	CHRNE	NM_000080.4(CHRNE):c.1214G>A:p.Trp405Ter	coding	Pathogenic
17	4899296	G	T	G4899296T	CHRNE	NM_000080.4(CHRNE):c.1121C>A:p.Ser374Ter	coding	Pathogenic
17	4899508	C	T	C4899508T	CHRNE	NM_000080.4(CHRNE):c.992G>A:p.Arg331Gln	coding	Pathogenic/Likely_pathogenic
17	4899534	G	T	G4899534T	CHRNE	NM_000080.4(CHRNE):c.966C>A:p.Cys322Ter	coding	Pathogenic
17	4900794	T	C	T4900794C	CHRNE	NM_000080.4(CHRNE):c.916A>G:p.Arg306Gly	coding	Pathogenic
17	4900860	T	G	T4900860G	CHRNE	NM_000080.4(CHRNE):c.850A>C:p.Thr284Pro	coding	Pathogenic/Likely_pathogenic
17	4900863	G	A	G4900863A	CHRNE	NM_000080.4(CHRNE):c.847C>T:p.Gln283Ter	coding	Pathogenic
17	4900988	A	G	A4900988G	CHRNE	NM_000080.4(CHRNE):c.802+2T>C	coding	Pathogenic
17	4900999	G	A	G4900999A	CHRNE	NM_000080.4(CHRNE):c.793C>T:p.Pro265Ser	coding	Pathogenic
17	4901080	G	A	G4901080A	CHRNE	NM_000080.4(CHRNE):c.712C>T:p.Arg238Trp	coding	Pathogenic
17	4901204	G	T	G4901204T	CHRNE	NM_000080.4(CHRNE):c.602-14C>A	coding	Benign
17	4901872	C	T	C4901872T	CHRNE	NM_000080.4(CHRNE):c.500+60G>A	coding	Benign
17	4901891	C	A	C4901891A	CHRNE	NM_000080.4(CHRNE):c.500+41G>T	coding	Benign
17	4902010	G	A	G4902010A	CHRNE	NM_000080.4(CHRNE):c.422C>T:p.Pro141Leu	coding	Pathogenic
17	4902060	G	C	G4902060C	CHRNE	NM_000080.4(CHRNE):c.372C>G:p.Tyr124Ter	coding	Pathogenic
17	4902142	C	A	C4902142A	CHRNE	NM_000080.4(CHRNE):c.345-55G>T	coding	Benign
17	4902199	G	A	G4902199A	CHRNE	NM_000080.4(CHRNE):c.344+18C>T	coding	Benign/Likely_benign
17	4902266	G	A	G4902266A	CHRNE	NM_000080.4(CHRNE):c.295C>T:p.Arg99Ter	coding	Pathogenic
17	4902705	A	T	A4902705T	CHRNE	NM_000080.4(CHRNE):c.105T>A:p.Tyr35Ter	coding	Pathogenic
17	4902726	A	C	A4902726C	CHRNE	NM_000080.4(CHRNE):c.84T>G:p.Tyr28Ter	coding	Pathogenic
17	4903423	T	C	T4903423C	CHRNE	Single_allele	noncoding	Benign
17	4932557	A	T	A4932557T	GP1BA	NM_000173.7(GP1BA):c.-6-42A>T	noncoding	Benign
17	4932662	T	G	T4932662G	GP1BA	NM_000173.7(GP1BA):c.58T>G:p.Cys20Gly	coding	Pathogenic
17	4932710	A	G	A4932710G	GP1BA	NM_000173.7(GP1BA):c.106A>G:p.Arg36Gly	coding	Benign/Likely_benign
17	4932819	G	A	G4932819A	GP1BA	NM_000173.7(GP1BA):c.215G>A:p.Arg72His	coding	Benign
17	4932845	T	C	T4932845C	GP1BA	NM_000173.7(GP1BA):c.241T>C:p.Cys81Arg	coding	Pathogenic
17	4932948	T	C	T4932948C	GP1BA	NM_000173.7(GP1BA):c.344T>C:p.Leu115Pro	coding	Pathogenic/Likely_pathogenic
17	4933038	T	C	T4933038C	GP1BA	NM_000173.7(GP1BA):c.434T>C:p.Leu145Pro	coding	Pathogenic
17	4933086	C	T	C4933086T	GP1BA	NM_000173.7(GP1BA):c.482C>T:p.Thr161Met	coding	Benign
17	4933103	G	T	G4933103T	GP1BA	NM_000173.7(GP1BA):c.499G>T:p.Glu167Ter	coding	Pathogenic
17	4933278	G	C	G4933278C	GP1BA	NM_000173.7(GP1BA):c.674G>C:p.Cys225Ser	coding	Pathogenic
17	4933341	G	T	G4933341T	GP1BA	NM_000173.7(GP1BA):c.737G>T:p.Trp246Leu	coding	Pathogenic
17	4933367	A	G	A4933367G	GP1BA	NM_000173.7(GP1BA):c.763A>G:p.Met255Val	coding	Pathogenic/Likely_pathogenic
17	4933397	G	T	G4933397T	GP1BA	NM_000173.7(GP1BA):c.793G>T:p.Asp265Tyr	coding	Pathogenic
17	4942473	G	A	G4942473A	RNF167	NM_015528.3(RNF167):c.291+7G>A	noncoding	Benign
17	4945906	C	T	C4945906T	PFN1	NM_005022.4(PFN1):c.417G>A:p.Gln139=	coding	Benign
17	4945924	G	A	G4945924A	PFN1	NM_005022.4(PFN1):c.399C>T:p.Ser133=	coding	Benign
17	4946089	C	T	C4946089T	PFN1	NM_005022.4(PFN1):c.326-92G>A	noncoding	Benign
17	4946332	A	T	A4946332T	PFN1	NM_005022.4(PFN1):c.325+296T>A	noncoding	Benign
17	4946340	A	G	A4946340G	PFN1	NM_005022.4(PFN1):c.325+288T>C	noncoding	Benign
17	4946479	G	A	G4946479A	PFN1	NM_005022.4(PFN1):c.325+149C>T	noncoding	Benign
17	4947017	G	C	G4947017C	PFN1	NM_005022.4(PFN1):c.133-197C>G	noncoding	Benign
17	4948130	C	G	C4948130G	PFN1	NM_005022.4(PFN1):c.132+133G>C	noncoding	Benign
17	4948472	G	A	G4948472A	PFN1	NM_005022.4(PFN1):c.-78C>T	noncoding	Benign
17	4949010	G	A	G4949010A	PFN1	Single_allele	noncoding	Benign
17	4949168	C	T	C4949168T	PFN1	Single_allele	noncoding	Benign
17	4953171	C	G	C4953171G	ENO3	NM_053013.4(ENO3):c.240+62C>G	noncoding	Benign
17	4953517	C	G	C4953517G	ENO3	NM_053013.4(ENO3):c.310+176C>G	noncoding	Benign
17	4954911	A	G	A4954911G	ENO3	NM_053013.4(ENO3):c.445-164A>G	noncoding	Benign
17	4955189	G	A	G4955189A	ENO3	NM_053013.4(ENO3):c.559G>A:p.Glu187Lys	coding	Pathogenic
17	4956575	G	A	G4956575A	ENO3	NM_053013.4(ENO3):c.1070G>A:p.Cys357Tyr	coding	Pathogenic
17	4980523	C	G	C4980523G	CAMTA2	NM_015099.4(CAMTA2):c.799G>C:p.Ala267Pro	coding	Benign
17	4999663	G	A	G4999663A	KIF1C	NM_006612.6(KIF1C):c.-148-187G>A	noncoding	Benign
17	5000100	T	C	T5000100C	KIF1C	NM_006612.6(KIF1C):c.-27-120T>C	noncoding	Benign
17	5000865	G	C	G5000865C	KIF1C	NM_006612.6(KIF1C):c.183+17G>C	noncoding	Benign
17	5000869	A	G	A5000869G	KIF1C	NM_006612.6(KIF1C):c.183+21A>G	noncoding	Benign
17	5001936	C	A	C5001936A	KIF1C	NM_006612.6(KIF1C):c.364-123C>A	noncoding	Benign
17	5002332	C	G	C5002332G	KIF1C	NM_006612.6(KIF1C):c.430-132C>G	noncoding	Benign
17	5002479	A	T	A5002479T	KIF1C	NM_006612.6(KIF1C):c.445A>T:p.Ile149Phe	coding	Pathogenic
17	5002696	A	G	A5002696G	KIF1C	NM_006612.6(KIF1C):c.609-35A>G	noncoding	Benign
17	5002860	C	A	C5002860A	KIF1C	NM_006612.6(KIF1C):c.720+18C>A	noncoding	Benign/Likely_benign
17	5002861	C	G	C5002861G	KIF1C	NM_006612.6(KIF1C):c.720+19C>G	noncoding	Benign/Likely_benign
17	5003415	G	A	G5003415A	KIF1C	NM_006612.6(KIF1C):c.721-197G>A	noncoding	Benign
17	5004090	C	A	C5004090A	KIF1C	NM_006612.6(KIF1C):c.940+17C>A	noncoding	Benign
17	5004550	A	T	A5004550T	KIF1C	NM_006612.6(KIF1C):c.941-17A>T	noncoding	Benign/Likely_benign
17	5004694	A	G	A5004694G	KIF1C	NM_006612.6(KIF1C):c.1019+49A>G	noncoding	Benign
17	5005083	G	A	G5005083A	KIF1C	NM_006612.6(KIF1C):c.1165+83G>A	noncoding	Benign
17	5007253	A	T	A5007253T	KIF1C	NM_006612.6(KIF1C):c.1336-10A>T	noncoding	Benign
17	5014849	G	C	G5014849C	KIF1C	NM_006612.6(KIF1C):c.1666+12G>C	noncoding	Benign/Likely_benign
17	5015039	A	G	A5015039G	KIF1C	NM_006612.6(KIF1C):c.1666+202A>G	noncoding	Benign
17	5020462	G	A	G5020462A	KIF1C	NM_006612.6(KIF1C):c.1751-30G>A	noncoding	Benign
17	5020692	A	C	A5020692C	KIF1C	NM_006612.6(KIF1C):c.1937+14A>C	noncoding	Benign/Likely_benign
17	5020710	C	T	C5020710T	KIF1C	NM_006612.6(KIF1C):c.1937+32C>T	noncoding	Benign
17	5020864	G	T	G5020864T	KIF1C	NM_006612.6(KIF1C):c.1996G>T:p.Glu666Ter	coding	Pathogenic
17	5021002	A	G	A5021002G	KIF1C	NM_006612.6(KIF1C):c.2010+124A>G	noncoding	Benign
17	5021038	A	G	A5021038G	KIF1C	NM_006612.6(KIF1C):c.2010+160A>G	noncoding	Benign
17	5021901	G	A	G5021901A	KIF1C	NM_006612.6(KIF1C):c.2011-191G>A	noncoding	Benign
17	5032883	A	G	A5032883G	SLC52A1	NM_017986.4(SLC52A1):c.*74T>C	noncoding	Benign
17	5033041	A	G	A5033041G	SLC52A1	NM_017986.4(SLC52A1):c.1263T>C:p.Leu421=	coding	Benign
17	5033041	A	T	A5033041T	SLC52A1	NM_017986.4(SLC52A1):c.1263T>A:p.Leu421=	coding	Benign
17	5033603	C	T	C5033603T	SLC52A1	NM_017986.4(SLC52A1):c.886G>A:p.Val296Met	coding	Benign
17	5034056	G	T	G5034056T	SLC52A1	NM_017986.4(SLC52A1):c.433C>A:p.Arg145=	coding	Benign
17	5034604	C	T	C5034604T	SLC52A1	NM_017986.4(SLC52A1):c.3G>A:p.Met1Ile	coding	Pathogenic
17	5034608	C	A	C5034608A	SLC52A1	NM_017986.4(SLC52A1):c.-2G>T	noncoding	Benign
17	5386260	A	G	A5386260G	NUP88	NM_002532.6(NUP88):c.2172T>C:p.His724=	coding	Benign
17	5386713	T	C	T5386713C	NUP88	NM_002532.6(NUP88):c.2157A>G:p.Lys719=	coding	Benign
17	5387361	A	C	A5387361C	NUP88	NM_002532.6(NUP88):c.1916+25T>G	noncoding	Benign
17	5387383	G	A	G5387383A	NUP88	NM_002532.6(NUP88):c.1916+3C>T	noncoding	Benign
17	5387504	C	A	C5387504A	NUP88	NM_002532.6(NUP88):c.1836-38G>T	noncoding	Benign
17	5391656	T	A	T5391656A	NUP88	NM_002532.6(NUP88):c.1389A>T:p.Pro463=	coding	Benign
17	5395000	C	T	C5395000T	NUP88	NM_002532.6(NUP88):c.1292-19G>A	noncoding	Benign
17	5414172	C	A	C5414172A	NUP88	NM_002532.6(NUP88):c.468-38G>T	noncoding	Benign
17	5432868	A	G	A5432868G	C1QBP	NM_001212.4(C1QBP):c.*147T>C	noncoding	Benign
17	5432890	T	C	T5432890C	C1QBP	NM_001212.4(C1QBP):c.*125A>G	noncoding	Benign
17	5433128	G	A	G5433128A	C1QBP	NM_001212.4(C1QBP):c.736C>T:p.Arg246Ter	coding	Pathogenic
17	5433274	C	A	C5433274A	C1QBP	NM_001212.4(C1QBP):c.699+19G>T	noncoding	Benign
17	5433471	G	T	G5433471T	C1QBP	NM_001212.4(C1QBP):c.577-56C>A	noncoding	Benign
17	5433817	G	C	G5433817C	C1QBP	NM_001212.4(C1QBP):c.478-50C>G	noncoding	Benign
17	5434961	G	A	G5434961A	C1QBP	NM_001212.4(C1QBP):c.389C>T:p.Thr130Met	coding	Benign
17	5434974	G	C	G5434974C	C1QBP	NM_001212.4(C1QBP):c.384-8C>G	noncoding	Benign
17	5438429	A	G	A5438429G	C1QBP	NM_001212.4(C1QBP):c.233-156T>C	noncoding	Benign
17	5438905	C	T	C5438905T	C1QBP	NM_001212.4(C1QBP):c.169G>A:p.Gly57Ser	coding	Benign
17	5514787	G	A	G5514787A	NLRP1	NM_033004.4(NLRP1):c.4389C>T:p.Gly1463=	coding	Benign
17	5514829	C	T	C5514829T	NLRP1	NM_033004.4(NLRP1):c.4347G>A:p.Lys1449=	coding	Benign
17	5515455	C	T	C5515455T	NLRP1	NM_033004.4(NLRP1):c.4102+18G>A	noncoding	Benign
17	5515479	G	A	G5515479A	NLRP1	NM_033004.4(NLRP1):c.4096C>T:p.Arg1366Cys	coding	Benign
17	5521566	G	A	G5521566A	NLRP1	NM_033004.4(NLRP1):c.3741C>T:p.Thr1247=	coding	Benign
17	5521566	G	T	G5521566T	NLRP1	NM_033004.4(NLRP1):c.3741C>A:p.Thr1247=	coding	Benign
17	5521586	C	G	C5521586G	NLRP1	NM_033004.4(NLRP1):c.3721G>C:p.Val1241Leu	coding	Benign
17	5521671	G	A	G5521671A	NLRP1	NM_033004.4(NLRP1):c.3636C>T:p.Phe1212=	coding	Benign
17	5530474	T	G	T5530474G	NLRP1	NM_033004.4(NLRP1):c.3520+7A>C	noncoding	Benign
17	5530521	A	G	A5530521G	NLRP1	NM_033004.4(NLRP1):c.3480T>C:p.Ala1160=	coding	Benign
17	5530646	T	C	T5530646C	NLRP1	NM_033004.4(NLRP1):c.3355A>G:p.Met1119Val	coding	Benign
17	5532943	C	T	C5532943T	NLRP1	NM_033004.4(NLRP1):c.3175G>A:p.Val1059Met	coding	Benign
17	5533965	G	A	G5533965A	NLRP1	NM_033004.4(NLRP1):c.2984C>T:p.Thr995Ile	coding	Benign
17	5536877	T	C	T5536877C	NLRP1	NM_033004.4(NLRP1):c.2934A>G:p.Lys978=	coding	Benign
17	5536901	T	C	T5536901C	NLRP1	NM_033004.4(NLRP1):c.2910A>G:p.Glu970=	coding	Benign
17	5536928	T	C	T5536928C	NLRP1	NM_033004.4(NLRP1):c.2883A>G:p.Thr961=	coding	Benign
17	5539470	C	T	C5539470T	NLRP1	NM_033004.4(NLRP1):c.2815G>A:p.Val939Met	coding	Benign
17	5539604	C	T	C5539604T	NLRP1	NM_033004.4(NLRP1):c.2700-19G>A	noncoding	Benign
17	5541923	G	A	G5541923A	NLRP1	NM_033004.4(NLRP1):c.2633C>T:p.Thr878Met	coding	Benign
17	5541994	G	A	G5541994A	NLRP1	NM_033004.4(NLRP1):c.2562C>T:p.Cys854=	coding	Benign
17	5553407	C	T	C5553407T	NLRP1	NM_033004.4(NLRP1):c.2507G>A:p.Arg836His	coding	Benign
17	5558327	T	A	T5558327A	NLRP1	NM_033004.4(NLRP1):c.2357+12A>T	noncoding	Benign
17	5558351	G	C	G5558351C	NLRP1	NM_033004.4(NLRP1):c.2345C>G:p.Thr782Ser	coding	Benign
17	5558527	G	A	G5558527A	NLRP1	NM_033004.4(NLRP1):c.2169C>T:p.Tyr723=	coding	Benign
17	5558575	C	A	C5558575A	NLRP1	NM_033004.4(NLRP1):c.2121G>T:p.Leu707=	coding	Benign
17	5558815	T	C	T5558815C	NLRP1	NM_033004.4(NLRP1):c.1881A>G:p.Gln627=	coding	Benign
17	5558920	C	T	C5558920T	NLRP1	NM_033004.4(NLRP1):c.1776G>A:p.Arg592=	coding	Benign
17	5559316	G	C	G5559316C	NLRP1	NM_033004.4(NLRP1):c.1380C>G:p.Thr460=	coding	Benign
17	5559334	G	A	G5559334A	NLRP1	NM_033004.4(NLRP1):c.1362C>T:p.Phe454=	coding	Benign
17	5581875	T	G	T5581875G	NLRP1	NM_033004.4(NLRP1):c.636A>C:p.Ser212=	coding	Benign
17	5581887	C	T	C5581887T	NLRP1	NM_033004.4(NLRP1):c.624G>A:p.Leu208=	coding	Benign
17	5582047	A	T	A5582047T	NLRP1	NM_033004.4(NLRP1):c.464T>A:p.Leu155His	coding	Benign
17	5582654	C	A	C5582654A	NLRP1	NM_033004.4(NLRP1):c.448+16G>T	noncoding	Benign
17	6425789	C	A	C6425789A	AIPL1	NM_014336.5(AIPL1):c.826G>T:p.Glu276Ter	coding	Pathogenic
17	6426317	C	T	C6426317T	AIPL1	NM_014336.5(AIPL1):c.784+298G>A	coding	Benign
17	6426526	G	A	G6426526A	AIPL1	NM_014336.5(AIPL1):c.784+89C>T	coding	Benign
17	6426643	G	A	G6426643A	AIPL1	NM_014336.5(AIPL1):c.756C>T:p.His252=	coding	Benign
17	6426758	T	A	T6426758A	AIPL1	NM_014336.5(AIPL1):c.643-2A>T	noncoding	Pathogenic
17	6426789	G	A	G6426789A	AIPL1	NM_014336.5(AIPL1):c.643-33C>T	noncoding	Benign
17	6426833	C	T	C6426833T	AIPL1	NM_014336.5(AIPL1):c.642+48G>A	noncoding	Benign
17	6427083	A	G	A6427083G	AIPL1	NM_014336.5(AIPL1):c.466-26T>C	noncoding	Benign
17	6428458	G	A	G6428458A	AIPL1	NM_014336.5(AIPL1):c.325C>T:p.Gln109Ter	coding	Pathogenic
17	6428520	C	T	C6428520T	AIPL1	NM_014336.5(AIPL1):c.277-14G>A	noncoding	Benign/Likely_benign
17	6433918	C	T	C6433918T	AIPL1	NM_014336.5(AIPL1):c.276+1G>A	noncoding	Pathogenic
17	6434084	G	A	G6434084A	AIPL1	NM_014336.5(AIPL1):c.111C>T:p.Phe37=	coding	Benign/Likely_benign
17	6434721	G	C	G6434721C	AIPL1	NM_014336.5(AIPL1):c.96+288C>G	noncoding	Benign
17	6434815	A	G	A6434815G	AIPL1	NM_014336.5(AIPL1):c.96+194T>C	noncoding	Benign
17	6434823	A	G	A6434823G	AIPL1	NM_014336.5(AIPL1):c.96+186T>C	noncoding	Benign
17	6435210	G	T	G6435210T	AIPL1	NM_014336.4(AIPL1):c.-106C>A	noncoding	Benign/Likely_benign
17	6435540	T	C	T6435540C	AIPL1	Single_allele	noncoding	Benign
17	6457582	G	A	G6457582A	PITPNM3	NM_031220.4(PITPNM3):c.2619+12C>T	noncoding	Benign
17	6461568	G	A	G6461568A	PITPNM3	NM_031220.4(PITPNM3):c.2307-12C>T	noncoding	Benign
17	6463678	C	T	C6463678T	PITPNM3	NM_031220.4(PITPNM3):c.2306+54G>A	noncoding	Benign
17	6463791	G	A	G6463791A	PITPNM3	NM_031220.4(PITPNM3):c.2247C>T:p.Ala749=	coding	Benign/Likely_benign
17	6464219	G	A	G6464219A	PITPNM3	NM_031220.4(PITPNM3):c.2107C>T:p.Arg703Trp	coding	Benign/Likely_benign
17	6464718	G	A	G6464718A	PITPNM3	NM_031220.4(PITPNM3):c.1944C>T:p.Pro648=	coding	Benign
17	6471213	G	A	G6471213A	PITPNM3	NM_031220.4(PITPNM3):c.1572C>T:p.His524=	coding	Benign
17	6472605	C	T	C6472605T	PITPNM3	NM_031220.4(PITPNM3):c.1429+52G>A	noncoding	Benign
17	6474565	C	T	C6474565T	PITPNM3	NM_031220.4(PITPNM3):c.1125G>A:p.Pro375=	coding	Benign
17	6474625	A	G	A6474625G	PITPNM3	NM_031220.4(PITPNM3):c.1086-21T>C	noncoding	Benign
17	6474666	T	C	T6474666C	PITPNM3	NM_031220.4(PITPNM3):c.1086-62A>G	noncoding	Benign
17	6474679	G	A	G6474679A	PITPNM3	NM_031220.4(PITPNM3):c.1086-75C>T	noncoding	Benign
17	6477199	C	T	C6477199T	PITPNM3	NM_031220.4(PITPNM3):c.915G>A:p.Ala305=	coding	Benign/Likely_benign
17	6478026	T	C	T6478026C	PITPNM3	NM_031220.4(PITPNM3):c.849A>G:p.Ser283=	coding	Benign/Likely_benign
17	6478606	C	T	C6478606T	PITPNM3	NM_031220.4(PITPNM3):c.718G>A:p.Ala240Thr	coding	Benign
17	6483528	C	T	C6483528T	PITPNM3	NM_031220.4(PITPNM3):c.576G>A:p.Ser192=	coding	Benign/Likely_benign
17	6483663	C	T	C6483663T	PITPNM3	NM_031220.4(PITPNM3):c.441G>A:p.Pro147=	coding	Benign
17	6484280	C	T	C6484280T	PITPNM3	NM_031220.4(PITPNM3):c.287G>A:p.Arg96Gln	coding	Benign/Likely_benign
17	6525300	C	G	C6525300G	PITPNM3	NM_031220.4(PITPNM3):c.226+56G>C	noncoding	Benign
17	6525481	G	A	G6525481A	PITPNM3	NM_031220.4(PITPNM3):c.119-18C>T	noncoding	Benign
17	6537887	C	T	C6537887T	PITPNM3	NM_031220.4(PITPNM3):c.118+100G>A	noncoding	Benign
17	6579726	T	C	T6579726C	KIAA0753	NM_014804.3(KIAA0753):c.*21A>G	noncoding	Benign
17	6589736	T	C	T6589736C	KIAA0753	NM_014804.3(KIAA0753):c.2786+43A>G	noncoding	Benign
17	6589759	G	A	G6589759A	KIAA0753	NM_014804.3(KIAA0753):c.2786+20C>T	noncoding	Benign
17	6589787	T	C	T6589787C	KIAA0753	NM_014804.3(KIAA0753):c.2778A>G:p.Ile926Met	coding	Benign
17	6589878	T	C	T6589878C	KIAA0753	NM_014804.3(KIAA0753):c.2687A>G:p.Gln896Arg	coding	Benign
17	6589903	G	C	G6589903C	KIAA0753	NM_014804.3(KIAA0753):c.2662C>G:p.Pro888Ala	coding	Benign
17	6590071	C	T	C6590071T	KIAA0753	NM_014804.3(KIAA0753):c.2562-68G>A	noncoding	Benign
17	6590114	C	T	C6590114T	KIAA0753	NM_014804.3(KIAA0753):c.2562-111G>A	noncoding	Benign
17	6590148	T	C	T6590148C	KIAA0753	NM_014804.3(KIAA0753):c.2562-145A>G	noncoding	Benign
17	6590821	C	A	C6590821A	KIAA0753	NM_014804.3(KIAA0753):c.2441-191G>T	noncoding	Benign
17	6590854	T	C	T6590854C	KIAA0753	NM_014804.3(KIAA0753):c.2441-224A>G	noncoding	Benign
17	6594999	G	A	G6594999A	KIAA0753	NM_014804.3(KIAA0753):c.2413C>T:p.Arg805Ter	coding	Pathogenic
17	6595054	C	G	C6595054G	KIAA0753	NM_014804.3(KIAA0753):c.2359-1G>C	coding	Pathogenic
17	6595158	C	T	C6595158T	KIAA0753	NM_014804.3(KIAA0753):c.2359-105G>A	noncoding	Benign
17	6595178	C	T	C6595178T	KIAA0753	NM_014804.3(KIAA0753):c.2359-125G>A	noncoding	Benign
17	6599079	A	G	A6599079G	KIAA0753	NM_014804.3(KIAA0753):c.2172+158T>C	noncoding	Benign
17	6599449	A	T	A6599449T	KIAA0753	NM_014804.3(KIAA0753):c.2089-129T>A	noncoding	Benign
17	6600198	C	T	C6600198T	KIAA0753	NM_014804.3(KIAA0753):c.2088+182G>A	noncoding	Benign
17	6607272	T	C	T6607272C	KIAA0753	NM_014804.3(KIAA0753):c.1830-2A>G	noncoding	Pathogenic
17	6607308	C	T	C6607308T	KIAA0753	NM_014804.3(KIAA0753):c.1830-38G>A	noncoding	Benign
17	6608461	A	G	A6608461G	KIAA0753	NM_014804.3(KIAA0753):c.1716T>C:p.Ala572=	coding	Benign
17	6609820	A	G	A6609820G	KIAA0753	NM_014804.3(KIAA0753):c.1712+174T>C	noncoding	Benign
17	6610009	G	A	G6610009A	KIAA0753	NM_014804.3(KIAA0753):c.1697C>T:p.Pro566Leu	coding	Benign
17	6610194	C	A	C6610194A	KIAA0753	NM_014804.3(KIAA0753):c.1546-34G>T	noncoding	Benign
17	6610372	T	G	T6610372G	KIAA0753	NM_014804.3(KIAA0753):c.1546-212A>C	noncoding	Benign
17	6612067	A	G	A6612067G	KIAA0753	NM_014804.3(KIAA0753):c.1397T>C:p.Leu466Pro	coding	Benign
17	6612072	T	G	T6612072G	KIAA0753	NM_014804.3(KIAA0753):c.1392A>C:p.Ile464=	coding	Benign
17	6612130	G	A	G6612130A	KIAA0753	NM_014804.3(KIAA0753):c.1334C>T:p.Thr445Met	coding	Benign
17	6612134	C	T	C6612134T	KIAA0753	NM_014804.3(KIAA0753):c.1330G>A:p.Asp444Asn	coding	Benign
17	6612211	T	C	T6612211C	KIAA0753	NM_014804.3(KIAA0753):c.1316-63A>G	noncoding	Benign
17	6612275	G	C	G6612275C	KIAA0753	NM_014804.3(KIAA0753):c.1316-127C>G	noncoding	Benign
17	6612363	C	T	C6612363T	KIAA0753	NM_014804.3(KIAA0753):c.1316-215G>A	noncoding	Benign
17	6620978	T	A	T6620978A	KIAA0753	NM_014804.3(KIAA0753):c.1125A>T:p.Glu375Asp	coding	Benign
17	6621038	G	A	G6621038A	KIAA0753	NM_014804.3(KIAA0753):c.1105-40C>T	noncoding	Benign
17	6622699	G	A	G6622699A	KIAA0753	NM_014804.3(KIAA0753):c.1104+183C>T	noncoding	Benign
17	6623445	C	G	C6623445G	KIAA0753	NM_014804.3(KIAA0753):c.888+64G>C	noncoding	Benign
17	6624556	A	G	A6624556G	KIAA0753	NM_014804.3(KIAA0753):c.825+199T>C	noncoding	Benign
17	6624811	T	C	T6624811C	KIAA0753	NM_014804.3(KIAA0753):c.769A>G:p.Arg257Gly	coding	Pathogenic
17	6624905	T	C	T6624905C	KIAA0753	NM_014804.3(KIAA0753):c.719-44A>G	noncoding	Benign
17	6628232	A	C	A6628232C	KIAA0753	NM_014804.3(KIAA0753):c.603T>G:p.His201Gln	coding	Benign
17	6628247	C	T	C6628247T	KIAA0753	NM_014804.3(KIAA0753):c.588G>A:p.Pro196=	coding	Benign
17	6628328	A	G	A6628328G	KIAA0753	NM_014804.3(KIAA0753):c.507T>C:p.Ser169=	coding	Benign
17	6635035	G	A	G6635035A	KIAA0753	NM_014804.3(KIAA0753):c.69C>T:p.Ser23=	coding	Benign
17	6635354	T	C	T6635354C	KIAA0753	NM_014804.3(KIAA0753):c.-68-183A>G	noncoding	Benign
17	6685892	C	T	C6685892T	SLC13A5	NM_177550.5(SLC13A5):c.*315G>A	noncoding	Benign
17	6686031	A	T	A6686031T	SLC13A5	NM_177550.5(SLC13A5):c.*176T>A	noncoding	Benign
17	6686176	A	G	A6686176G	SLC13A5	NM_177550.5(SLC13A5):c.*31T>C	noncoding	Benign
17	6687779	A	T	A6687779T	SLC13A5	NM_177550.5(SLC13A5):c.1438-113T>A	noncoding	Benign
17	6690603	T	C	T6690603C	SLC13A5	NM_177550.5(SLC13A5):c.1437+176A>G	noncoding	Benign
17	6692812	T	C	T6692812C	SLC13A5	NM_177550.5(SLC13A5):c.1275+232A>G	noncoding	Benign
17	6692929	G	A	G6692929A	SLC13A5	NM_177550.5(SLC13A5):c.1275+115C>T	noncoding	Benign
17	6694136	G	A	G6694136A	SLC13A5	NM_177550.5(SLC13A5):c.1117C>T:p.Gln373Ter	coding	Pathogenic
17	6694138	G	T	G6694138T	SLC13A5	NM_177550.5(SLC13A5):c.1115C>A:p.Ser372Ter	coding	Pathogenic
17	6694198	C	G	C6694198G	SLC13A5	NM_177550.5(SLC13A5):c.1056-1G>C	coding	Pathogenic
17	6696046	T	C	T6696046C	SLC13A5	NM_177550.5(SLC13A5):c.840-105A>G	noncoding	Benign
17	6703006	G	A	G6703006A	SLC13A5	NM_177550.5(SLC13A5):c.680C>T:p.Thr227Met	coding	Pathogenic/Likely_pathogenic
17	6704042	A	C	A6704042C	SLC13A5	NM_177550.5(SLC13A5):c.383T>G:p.Phe128Cys	coding	Pathogenic
17	6706789	G	A	G6706789A	SLC13A5	NM_177550.5(SLC13A5):c.232-11C>T	noncoding	Benign/Likely_benign
17	6706792	C	T	C6706792T	SLC13A5	NM_177550.5(SLC13A5):c.232-14G>A	noncoding	Benign/Likely_benign
17	6707382	C	G	C6707382G	SLC13A5	NM_177550.5(SLC13A5):c.103-226G>C	noncoding	Benign
17	6713000	C	T	C6713000T	SLC13A5	NM_177550.5(SLC13A5):c.102+232G>A	noncoding	Benign
17	6713208	G	A	G6713208A	SLC13A5	NM_177550.5(SLC13A5):c.102+24C>T	noncoding	Benign
17	6760434	A	G	A6760434G	XAF1	NM_017523.5(XAF1):c.254A>G:p.Glu85Gly	coding	Benign
17	6995799	C	T	C6995799T	ALOX12	Single_allele	noncoding	Benign
17	6995902	G	A	G6995902A	ALOX12	Single_allele	noncoding	Benign
17	6996240	C	G	C6996240G	ALOX12	NM_000697.3(ALOX12):c.123C>G:p.Pro41=	coding	Benign
17	6996310	C	T	C6996310T	ALOX12	NM_000697.3(ALOX12):c.135+58C>T	noncoding	Benign
17	6996412	T	C	T6996412C	ALOX12	NM_000697.3(ALOX12):c.135+160T>C	noncoding	Benign
17	6996757	G	A	G6996757A	ALOX12	NM_000697.3(ALOX12):c.136-69G>A	noncoding	Benign
17	6997043	C	T	C6997043T	ALOX12	NM_000697.3(ALOX12):c.337+16C>T	noncoding	Benign
17	6997064	T	C	T6997064C	ALOX12	NM_000697.3(ALOX12):c.337+37T>C	noncoding	Benign
17	6997125	T	G	T6997125G	ALOX12	NM_000697.3(ALOX12):c.337+98T>G	noncoding	Benign
17	6998353	G	A	G6998353A	ALOX12	NM_000697.3(ALOX12):c.338-156G>A	noncoding	Benign
17	6998860	G	A	G6998860A	ALOX12	NM_000697.3(ALOX12):c.542+23G>A	noncoding	Benign
17	6999140	T	C	T6999140C	ALOX12	NM_000697.3(ALOX12):c.646+84T>C	noncoding	Benign
17	6999424	G	A	G6999424A	ALOX12	NM_000697.3(ALOX12):c.765G>A:p.Ser255=	coding	Benign
17	6999441	A	G	A6999441G	ALOX12	NM_000697.3(ALOX12):c.782A>G:p.Gln261Arg	coding	Benign
17	6999491	A	T	A6999491T	ALOX12	NM_000697.3(ALOX12):c.807+25A>T	noncoding	Benign
17	6999568	A	G	A6999568G	ALOX12	NM_000697.3(ALOX12):c.807+102A>G	noncoding	Benign
17	7000218	G	A	G7000218A	ALOX12	NM_000697.3(ALOX12):c.808-118G>A	noncoding	Benign
17	7000625	G	A	G7000625A	ALOX12	NM_000697.3(ALOX12):c.951+146G>A	noncoding	Benign
17	7000679	C	T	C7000679T	ALOX12	NM_000697.3(ALOX12):c.951+200C>T	noncoding	Benign
17	7001615	A	G	A7001615G	ALOX12	NM_000697.3(ALOX12):c.965A>G:p.Asn322Ser	coding	Benign
17	7001742	T	G	T7001742G	ALOX12	NM_000697.3(ALOX12):c.1092T>G:p.Thr364=	coding	Benign
17	7002039	C	T	C7002039T	ALOX12	NM_000697.3(ALOX12):c.1161+228C>T	noncoding	Benign
17	7006059	C	T	C7006059T	ALOX12	NM_000697.3(ALOX12):c.1418+32C>T	noncoding	Benign
17	7006519	A	G	A7006519G	ALOX12	NM_000697.3(ALOX12):c.1452A>G:p.Gln484=	coding	Benign
17	7006889	A	G	A7006889G	ALOX12	NM_000697.3(ALOX12):c.1540+282A>G	noncoding	Benign
17	7006892	T	G	T7006892G	ALOX12	NM_000697.3(ALOX12):c.1540+285T>G	noncoding	Benign
17	7009483	T	A	T7009483A	ALOX12	NM_000697.3(ALOX12):c.1541-264T>A	noncoding	Benign
17	7009727	G	A	G7009727A	ALOX12	NM_000697.3(ALOX12):c.1541-20G>A	noncoding	Benign
17	7010333	G	A	G7010333A	ALOX12	NM_000697.3(ALOX12):c.1902G>A:p.Leu634=	coding	Benign
17	7042968	T	C	T7042968C	SLC16A11	NM_001370549.1(SLC16A11):c.308A>G:p.Asp103Gly	coding	Benign
17	7191360	T	C	T7191360C	DLG4	NM_001321075.3(DLG4):c.1977-2A>G	noncoding	Pathogenic
17	7191991	G	T	G7191991T	DLG4	NM_001321075.3(DLG4):c.1878C>A:p.Cys626Ter	coding	Pathogenic/Likely_pathogenic
17	7192943	A	G	A7192943G	DLG4	NM_001321075.3(DLG4):c.1866+2T>C	noncoding	Pathogenic
17	7192962	G	A	G7192962A	DLG4	NM_001321075.3(DLG4):c.1849C>T:p.Arg617Ter	coding	Pathogenic
17	7192979	G	A	G7192979A	DLG4	NM_001321075.3(DLG4):c.1832C>T:p.Thr611Ile	coding	Pathogenic
17	7193054	C	T	C7193054T	DLG4	NM_001321075.3(DLG4):c.1757G>A:p.Arg586Gln	coding	Pathogenic
17	7193482	C	T	C7193482T	DLG4	NM_001321075.3(DLG4):c.1693+1G>A	noncoding	Pathogenic
17	7193504	T	A	T7193504A	DLG4	NM_001321075.3(DLG4):c.1672A>T:p.Lys558Ter	coding	Pathogenic
17	7193585	C	T	C7193585T	DLG4	NM_001321075.3(DLG4):c.1592-1G>A	coding	Pathogenic
17	7193982	C	T	C7193982T	DLG4	NM_001321075.3(DLG4):c.1497G>A:p.Trp499Ter	coding	Pathogenic
17	7193983	C	T	C7193983T	DLG4	NM_001321075.3(DLG4):c.1496G>A:p.Trp499Ter	coding	Pathogenic
17	7194317	A	G	A7194317G	DLG4	NM_001321075.3(DLG4):c.1478+2T>C	noncoding	Pathogenic
17	7194385	C	T	C7194385T	DLG4	NM_001321075.3(DLG4):c.1412G>A:p.Trp471Ter	coding	Pathogenic
17	7196326	G	A	G7196326A	DLG4	NM_001321075.3(DLG4):c.1195C>T:p.Arg399Ter	coding	Pathogenic
17	7196492	G	A	G7196492A	DLG4	NM_001321075.3(DLG4):c.1167C>T:p.Ile389=	coding	Benign
17	7196576	C	A	C7196576A	DLG4	NM_001321075.3(DLG4):c.1084-1G>T	coding	Pathogenic
17	7196757	C	T	C7196757T	DLG4	NM_001321075.3(DLG4):c.1083G>A:p.Ser361=	coding	Pathogenic
17	7196768	G	A	G7196768A	DLG4	NM_001321075.3(DLG4):c.1072C>T:p.Gln358Ter	coding	Pathogenic
17	7196915	G	A	G7196915A	DLG4	NM_001321075.3(DLG4):c.925C>T:p.Arg309Ter	coding	Pathogenic/Likely_pathogenic
17	7197048	A	T	A7197048T	DLG4	NM_001321075.3(DLG4):c.792T>A:p.Tyr264Ter	coding	Pathogenic
17	7202901	A	G	A7202901G	DLG4	NM_001321075.3(DLG4):c.787+2T>C	noncoding	Pathogenic
17	7203278	T	A	T7203278A	DLG4	NM_001321075.3(DLG4):c.557A>T:p.Asp186Val	coding	Pathogenic
17	7203305	C	A	C7203305A	DLG4	NM_001321075.3(DLG4):c.530G>T:p.Gly177Val	coding	Pathogenic/Likely_pathogenic
17	7203451	C	A	C7203451A	DLG4	NM_001321075.3(DLG4):c.478G>T:p.Glu160Ter	coding	Pathogenic
17	7203708	G	A	G7203708A	DLG4	NM_001321075.3(DLG4):c.319C>T:p.Gln107Ter	coding	Pathogenic
17	7203809	G	C	G7203809C	DLG4	NM_001321075.3(DLG4):c.218C>G:p.Ser73Ter	coding	Pathogenic
17	7203818	T	C	T7203818C	DLG4	NM_001321075.3(DLG4):c.211-2A>G	noncoding	Pathogenic
17	7204025	C	A	C7204025A	DLG4	NM_001321075.3(DLG4):c.193G>T:p.Glu65Ter	coding	Pathogenic
17	7219637	G	A	G7219637A	ACADVL	NM_001270447.2(ACADVL):c.132-485G>A	coding	Benign
17	7219921	T	C	T7219921C	ACADVL;DLG4	NM_000018.3(ACADVL):c.-64T>C	coding	Benign
17	7220087	G	A	G7220087A	ACADVL	NM_000018.4(ACADVL):c.63-35G>A	coding	Benign
17	7220296	T	G	T7220296G	ACADVL	NM_000018.4(ACADVL):c.138+99T>G	noncoding	Benign
17	7220677	G	A	G7220677A	ACADVL	NM_000018.4(ACADVL):c.277+1G>A	coding	Pathogenic
17	7220987	C	T	C7220987T	ACADVL	NM_000018.4(ACADVL):c.406C>T:p.Leu136Phe	coding	Pathogenic
17	7221018	T	G	T7221018G	ACADVL	NM_000018.4(ACADVL):c.437T>G:p.Val146Gly	coding	Pathogenic
17	7221074	C	T	C7221074T	ACADVL	NM_000018.4(ACADVL):c.477+16C>T	noncoding	Benign
17	7221187	G	A	G7221187A	ACADVL	NM_000018.4(ACADVL):c.477+129G>A	noncoding	Benign
17	7221369	C	A	C7221369A	ACADVL	NM_000018.4(ACADVL):c.478-169C>A	noncoding	Benign
17	7221449	T	C	T7221449C	ACADVL	NM_000018.4(ACADVL):c.478-89T>C	noncoding	Benign
17	7221472	A	C	A7221472C	ACADVL	NM_000018.4(ACADVL):c.478-66A>C	noncoding	Benign
17	7221536	A	G	A7221536G	ACADVL	NM_000018.4(ACADVL):c.478-2A>G	noncoding	Pathogenic
17	7221612	C	A	C7221612A	ACADVL	NM_000018.4(ACADVL):c.552C>A:p.Ile184_Gly185=	coding	Pathogenic
17	7221981	G	A	G7221981A	ACADVL	NM_000018.4(ACADVL):c.652G>A:p.Glu218Lys	coding	Pathogenic
17	7221984	C	A	C7221984A	ACADVL	NM_000018.4(ACADVL):c.655C>A:p.Pro219Thr	coding	Pathogenic
17	7222076	G	A	G7222076A	ACADVL	NM_000018.4(ACADVL):c.747G>A:p.Trp249Ter	coding	Pathogenic
17	7222277	G	C	G7222277C	ACADVL	NM_000018.4(ACADVL):c.853G>C:p.Glu285Gln	coding	Pathogenic/Likely_pathogenic
17	7222586	C	T	C7222586T	ACADVL	NM_000018.4(ACADVL):c.879-81C>T	noncoding	Benign
17	7222744	C	A	C7222744A	ACADVL	NM_000018.4(ACADVL):c.956C>A:p.Ser319Ter	coding	Pathogenic/Likely_pathogenic
17	7223193	C	T	C7223193T	ACADVL	NM_000018.4(ACADVL):c.1138C>T:p.Gln380Ter	coding	Pathogenic
17	7223629	A	G	A7223629G	ACADVL	NM_000018.4(ACADVL):c.1183-15A>G	noncoding	Pathogenic/Likely_pathogenic
17	7223729	C	A	C7223729A	ACADVL	NM_000018.4(ACADVL):c.1268C>A:p.Ser423Ter	coding	Pathogenic
17	7223835	A	G	A7223835G	ACADVL	NM_000018.4(ACADVL):c.1292A>G:p.Asp431Gly	coding	Pathogenic
17	7223853	T	C	T7223853C	ACADVL	NM_000018.4(ACADVL):c.1310T>C:p.Met437Thr	coding	Pathogenic/Likely_pathogenic
17	7224375	G	T	G7224375T	ACADVL	NM_000018.4(ACADVL):c.1587G>T:p.Leu529Phe	coding	Pathogenic
17	7224394	G	C	G7224394C	ACADVL	NM_000018.4(ACADVL):c.1605+1G>C	coding	Pathogenic
17	7224394	G	T	G7224394T	ACADVL	NM_000018.4(ACADVL):c.1605+1G>T	coding	Pathogenic
17	7224618	A	C	A7224618C	ACADVL	NM_000018.4(ACADVL):c.1679-24A>C	noncoding	Benign
17	7224808	G	A	G7224808A	ACADVL	NM_000018.4(ACADVL):c.1752-1G>A	noncoding	Pathogenic
17	7225357	G	A	G7225357A	ACADVL	NM_004422.3(DVL2):c.*508C>T	noncoding	Benign
17	7226521	T	C	T7226521C	DVL2	NM_004422.3(DVL2):c.1662A>G:p.Gln554=	coding	Benign
17	7226655	A	G	A7226655G	DVL2	NM_004422.3(DVL2):c.1544-16T>C	noncoding	Benign
17	7309778	C	A	C7309778A	EIF5A	NM_001970.5(EIF5A):c.143C>A:p.Thr48Asn	coding	Pathogenic
17	7311008	A	G	A7311008G	EIF5A	NM_001970.5(EIF5A):c.166-10A>G	noncoding	Benign
17	7311404	C	G	C7311404G	EIF5A	NM_001970.5(EIF5A):c.325C>G:p.Arg109Gly	coding	Pathogenic
17	7311404	C	T	C7311404T	EIF5A	NM_001970.5(EIF5A):c.325C>T:p.Arg109Ter	coding	Pathogenic
17	7414742	T	C	T7414742C	NLGN2	NM_020795.4(NLGN2):c.738T>C:p.Ser246=	coding	Benign
17	7415077	C	T	C7415077T	NLGN2	NM_020795.4(NLGN2):c.966C>T:p.Ser322=	coding	Benign
17	7415601	C	T	C7415601T	NLGN2	NM_020795.4(NLGN2):c.1128C>T:p.Tyr376=	coding	Benign
17	7415616	C	T	C7415616T	NLGN2	NM_020795.4(NLGN2):c.1143C>T:p.Gly381=	coding	Benign
17	7416006	C	T	C7416006T	NLGN2	NM_020795.4(NLGN2):c.1533C>T:p.Pro511=	coding	Benign
17	7417262	C	T	C7417262T	NLGN2	NM_020795.4(NLGN2):c.1971C>T:p.Pro657=	coding	Benign
17	7417439	C	T	C7417439T	NLGN2	NM_020795.4(NLGN2):c.2148C>T:p.Gly716=	coding	Benign
17	7417551	G	A	G7417551A	NLGN2	NM_020795.4(NLGN2):c.2260G>A:p.Gly754Arg	coding	Benign
17	7417555	C	T	C7417555T	NLGN2	NM_020795.4(NLGN2):c.2264C>T:p.Ala755Val	coding	Benign
17	7417748	C	T	C7417748T	NLGN2	NM_020795.4(NLGN2):c.2457C>T:p.Ala819=	coding	Benign
17	7446127	A	G	A7446127G	CHRNB1	NM_000747.3(CHRNB1):c.243+14A>G	noncoding	Benign/Likely_benign
17	7446731	C	A	C7446731A	CHRNB1	NM_000747.3(CHRNB1):c.244-102C>A	noncoding	Benign
17	7447918	G	A	G7447918A	CHRNB1	NM_000747.3(CHRNB1):c.610+268G>A	noncoding	Benign
17	7448425	C	T	C7448425T	CHRNB1	NM_000747.3(CHRNB1):c.611-154C>T	noncoding	Benign
17	7448517	A	G	A7448517G	CHRNB1	NM_000747.3(CHRNB1):c.611-62A>G	noncoding	Benign
17	7448695	C	T	C7448695T	CHRNB1	NM_000747.3(CHRNB1):c.727C>T:p.Arg243Cys	coding	Pathogenic/Likely_pathogenic
17	7448903	C	T	C7448903T	CHRNB1	NM_000747.3(CHRNB1):c.820+115C>T	noncoding	Benign
17	7454277	C	T	C7454277T	CHRNB1	NM_000747.3(CHRNB1):c.821-20C>T	noncoding	Benign
17	7454281	C	G	C7454281G	CHRNB1	NM_000747.3(CHRNB1):c.821-16C>G	noncoding	Benign/Likely_benign
17	7454299	G	T	G7454299T	CHRNB1	NM_000747.3(CHRNB1):c.823G>T:p.Glu275Ter	coding	Pathogenic
17	7454540	C	T	C7454540T	CHRNB1	NM_000747.3(CHRNB1):c.1044+20C>T	noncoding	Benign/Likely_benign
17	7454681	C	G	C7454681G	CHRNB1	NM_000747.3(CHRNB1):c.1044+161C>G	noncoding	Benign
17	7455201	C	T	C7455201T	CHRNB1	NM_000747.3(CHRNB1):c.1045-83C>T	noncoding	Benign
17	7456238	G	C	G7456238C	CHRNB1	NM_000747.3(CHRNB1):c.1365+297G>C	noncoding	Benign
17	7456438	G	A	G7456438A	CHRNB1	NM_000747.3(CHRNB1):c.1366-145G>A	noncoding	Benign
17	7457456	G	A	G7457456A	CHRNB1	NM_000747.3(CHRNB1):c.*733G>A	noncoding	Benign
17	7496722	C	T	C7496722T	POLR2A	NM_000937.5(POLR2A):c.538-42C>T	noncoding	Benign
17	7497496	T	C	T7497496C	POLR2A	NM_000937.5(POLR2A):c.960T>C:p.Asn320=	coding	Benign
17	7499237	G	A	G7499237A	POLR2A	NM_000937.5(POLR2A):c.1461-44G>A	noncoding	Benign
17	7499281	T	C	T7499281C	POLR2A	NM_000937.5(POLR2A):c.1461T>C:p.Ser487=	coding	Benign
17	7499282	G	A	G7499282A	POLR2A	NM_000937.5(POLR2A):c.1462G>A:p.Val488Met	coding	Pathogenic/Likely_pathogenic
17	7500623	A	C	A7500623C	POLR2A	NM_000937.5(POLR2A):c.1672-16A>C	noncoding	Benign
17	7500890	G	A	G7500890A	POLR2A	NM_000937.5(POLR2A):c.1881+42G>A	noncoding	Benign
17	7501545	A	G	A7501545G	POLR2A	NM_000937.5(POLR2A):c.2165A>G:p.Asn722Ser	coding	Pathogenic
17	7501672	T	C	T7501672C	POLR2A	NM_000937.5(POLR2A):c.2292T>C:p.Asn764=	coding	Benign
17	7501755	C	T	C7501755T	POLR2A	NM_000937.5(POLR2A):c.2349+26C>T	noncoding	Benign
17	7509084	T	C	T7509084C	POLR2A	NM_000937.5(POLR2A):c.3606T>C:p.Phe1202=	coding	Benign
17	7513280	G	A	G7513280A	POLR2A	NM_000937.5(POLR2A):c.5016G>A:p.Ser1672=	coding	Benign/Likely_benign
17	7513692	C	T	C7513692T	POLR2A	NM_000937.5(POLR2A):c.5428C>T:p.Arg1810Ter	coding	Pathogenic/Likely_pathogenic
17	7549225	C	T	C7549225T	TNFSF12	NM_003809.3(TNFSF12):c.72C>T:p.Leu24=	coding	Benign
17	7549455	G	A	G7549455A	TNFSF12	NM_003809.3(TNFSF12):c.160-19G>A	noncoding	Benign
17	7549518	G	A	G7549518A	TNFSF12	NM_003809.3(TNFSF12):c.204G>A:p.Pro68=	coding	Benign
17	7550188	C	A	C7550188A	TNFSF12	NM_003809.3(TNFSF12):c.276C>A:p.Arg92=	coding	Benign
17	7557368	G	A	G7557368A	TNFSF12	NM_003809.3(TNFSF12):c.*18G>A	coding	Benign
17	7558152	T	C	T7558152C	TNFSF13	NM_172089.4(TNFSF12-TNFSF13):c.498+1250T>C	noncoding	Benign
17	7559238	G	A	G7559238A	TNFSF13	NM_003808.4(TNFSF13):c.199G>A:p.Gly67Arg	coding	Benign
17	7559652	A	G	A7559652G	TNFSF13	NM_003808.4(TNFSF13):c.287A>G:p.Asn96Ser	coding	Benign
17	7561096	C	T	C7561096T	TNFSF13	NM_003808.4(TNFSF13):c.*263C>T	noncoding	Benign
17	7575180	G	A	G7575180A	EIF4A1	NM_001416.4(EIF4A1):c.267G>A:p.Ser89=	coding	Benign
17	7583790	A	G	A7583790G	MPDU1	NM_004870.3(MPDU1):c.-73A>G	noncoding	Benign/Likely_benign
17	7633209	G	A	G7633209A	SHBG	NM_001040.5(SHBG):c.1066G>A:p.Asp356Asn	coding	Benign
17	7668134	G	A	G7668134A	TP53	Single_allele	noncoding	Benign
17	7669642	G	A	G7669642A	TP53	NM_000546.6(TP53):c.1149C>T:p.Leu383=	coding	Benign/Likely_benign
17	7669739	G	A	G7669739A	TP53	NM_000546.6(TP53):c.1101-49C>T	noncoding	Benign
17	7670717	T	C	T7670717C	TP53	NM_000546.6(TP53):c.994-2A>G	noncoding	Pathogenic
17	7673547	A	T	A7673547T	TP53	NM_000546.6(TP53):c.981T>A:p.Tyr327Ter	coding	Pathogenic
17	7673570	T	A	T7673570A	TP53	NM_000546.6(TP53):c.958A>T:p.Lys320Ter	coding	Pathogenic
17	7673625	G	T	G7673625T	TP53	NM_000546.6(TP53):c.920-17C>A	noncoding	Benign/Likely_benign
17	7673780	T	A	T7673780A	TP53	NM_000546.6(TP53):c.840A>T:p.Arg280Ser	coding	Pathogenic
17	7673781	C	G	C7673781G	TP53	NM_000546.6(TP53):c.839G>C:p.Arg280Thr	coding	Pathogenic/Likely_pathogenic
17	7673788	G	T	G7673788T	TP53	NM_000546.6(TP53):c.832C>A:p.Pro278Thr	coding	Pathogenic
17	7673795	A	T	A7673795T	TP53	NM_000546.6(TP53):c.825T>A:p.Cys275Ter	coding	Pathogenic
17	7673805	A	C	A7673805C	TP53	NM_000546.6(TP53):c.815T>G:p.Val272Gly	coding	Pathogenic
17	7673806	C	G	C7673806G	TP53	NM_000546.6(TP53):c.814G>C:p.Val272Leu	coding	Pathogenic/Likely_pathogenic
17	7673806	C	T	C7673806T	TP53	NM_000546.6(TP53):c.814G>A:p.Val272Met	coding	Pathogenic
17	7673809	C	A	C7673809A	TP53	NM_000546.6(TP53):c.811G>T:p.Glu271Ter	coding	Pathogenic
17	7673823	C	T	C7673823T	TP53	NM_000546.6(TP53):c.797G>A:p.Gly266Glu	coding	Pathogenic/Likely_pathogenic
17	7673848	T	C	T7673848C	TP53	NM_000546.6(TP53):c.783-11A>G	noncoding	Benign/Likely_benign
17	7674089	A	C	A7674089C	TP53	NM_000546.6(TP53):c.782+92T>G	noncoding	Benign
17	7674109	G	A	G7674109A	TP53	NM_000546.6(TP53):c.782+72C>T	noncoding	Benign
17	7674206	T	C	T7674206C	TP53	NM_000546.6(TP53):c.757A>G:p.Thr253Ala	coding	Pathogenic
17	7674217	C	G	C7674217G	TP53	NM_000546.6(TP53):c.746G>C:p.Arg249Thr	coding	Pathogenic
17	7674218	T	A	T7674218A	TP53	NM_000546.6(TP53):c.745A>T:p.Arg249Trp	coding	Pathogenic/Likely_pathogenic
17	7674237	G	T	G7674237T	TP53	NM_000546.6(TP53):c.726C>A:p.Cys242Ter	coding	Pathogenic
17	7674245	T	C	T7674245C	TP53	NM_000546.6(TP53):c.718A>G:p.Ser240Gly	coding	Pathogenic/Likely_pathogenic
17	7674252	C	G	C7674252G	TP53	NM_000546.6(TP53):c.711G>C:p.Met237Ile	coding	Pathogenic
17	7674252	C	T	C7674252T	TP53	NM_000546.6(TP53):c.711G>A:p.Met237Ile	coding	Pathogenic
17	7674255	G	C	G7674255C	TP53	NM_000546.6(TP53):c.708C>G:p.Tyr236Ter	coding	Pathogenic
17	7674261	G	C	G7674261C	TP53	NM_000546.6(TP53):c.702C>G:p.Tyr234Ter	coding	Pathogenic
17	7674268	A	C	A7674268C	TP53	NM_000546.6(TP53):c.695T>G:p.Ile232Ser	coding	Pathogenic
17	7674268	A	T	A7674268T	TP53	NM_000546.6(TP53):c.695T>A:p.Ile232Asn	coding	Pathogenic
17	7674309	C	T	C7674309T	TP53	NM_000546.6(TP53):c.673-19G>A	noncoding	Benign/Likely_benign
17	7674327	G	A	G7674327A	TP53	NM_000546.6(TP53):c.673-37C>T	noncoding	Benign/Likely_benign
17	7674334	G	A	G7674334A	TP53	NM_000546.6(TP53):c.673-44C>T	noncoding	Benign
17	7674811	C	T	C7674811T	TP53	NM_000546.6(TP53):c.672+48G>A	noncoding	Benign/Likely_benign
17	7674873	A	G	A7674873G	TP53	NM_000546.6(TP53):c.658T>C:p.Tyr220His	coding	Pathogenic
17	7674883	C	G	C7674883G	TP53	NM_000546.6(TP53):c.648G>C:p.Val216=	coding	Benign/Likely_benign
17	7674913	C	T	C7674913T	TP53	NM_000546.6(TP53):c.618G>A:p.Leu206=	coding	Benign/Likely_benign
17	7674917	T	C	T7674917C	TP53	NM_000546.6(TP53):c.614A>G:p.Tyr205Cys	coding	Pathogenic
17	7674951	G	A	G7674951A	TP53	NM_000546.6(TP53):c.580C>T:p.Leu194Phe	coding	Pathogenic/Likely_pathogenic
17	7674954	G	A	G7674954A	TP53	NM_000546.6(TP53):c.577C>T:p.His193Tyr	coding	Pathogenic/Likely_pathogenic
17	7674973	T	G	T7674973G	TP53	NM_000546.6(TP53):c.560-2A>C	noncoding	Pathogenic
17	7675082	G	C	G7675082C	TP53	NM_000546.6(TP53):c.530C>G:p.Pro177Arg	coding	Pathogenic/Likely_pathogenic
17	7675084	G	T	G7675084T	TP53	NM_000546.6(TP53):c.528C>A:p.Cys176Ter	coding	Pathogenic
17	7675098	C	A	C7675098A	TP53	NM_000546.6(TP53):c.514G>T:p.Val172Phe	coding	Pathogenic
17	7675100	T	C	T7675100C	TP53	NM_000546.6(TP53):c.512A>G:p.Glu171Gly	coding	Pathogenic
17	7675109	T	A	T7675109A	TP53	NM_000546.6(TP53):c.503A>T:p.His168Leu	coding	Pathogenic
17	7675142	A	G	A7675142G	TP53	NM_000546.6(TP53):c.470T>C:p.Val157Ala	coding	Pathogenic/Likely_pathogenic
17	7675144	G	A	G7675144A	TP53	NM_000546.6(TP53):c.468C>T:p.Arg156=	coding	Benign/Likely_benign
17	7675160	G	C	G7675160C	TP53	NM_000546.6(TP53):c.452C>G:p.Pro151Arg	coding	Pathogenic
17	7675178	A	T	A7675178T	TP53	NM_000546.6(TP53):c.434T>A:p.Leu145Gln	coding	Pathogenic/Likely_pathogenic
17	7675200	C	G	C7675200G	TP53	NM_000546.6(TP53):c.412G>C:p.Ala138Pro	coding	Pathogenic/Likely_pathogenic
17	7675209	A	G	A7675209G	TP53	NM_000546.6(TP53):c.403T>C:p.Cys135Arg	coding	Pathogenic
17	7675212	A	T	A7675212T	TP53	NM_000546.6(TP53):c.400T>A:p.Phe134Ile	coding	Pathogenic
17	7675217	T	C	T7675217C	TP53	NM_000546.6(TP53):c.395A>G:p.Lys132Arg	coding	Pathogenic
17	7675218	T	C	T7675218C	TP53	NM_000546.6(TP53):c.394A>G:p.Lys132Glu	coding	Pathogenic/Likely_pathogenic
17	7675220	T	A	T7675220A	TP53	NM_000546.6(TP53):c.392A>T:p.Asn131Ile	coding	Pathogenic
17	7675226	G	T	G7675226T	TP53	NM_000546.6(TP53):c.386C>A:p.Ala129Asp	coding	Benign
17	7675232	G	T	G7675232T	TP53	NM_000546.6(TP53):c.380C>A:p.Ser127Tyr	coding	Pathogenic
17	7675233	A	G	A7675233G	TP53	NM_000546.6(TP53):c.379T>C:p.Ser127Pro	coding	Pathogenic
17	7675234	G	C	G7675234C	TP53	NM_000546.6(TP53):c.378C>G:p.Tyr126Ter	coding	Pathogenic/Likely_pathogenic
17	7675234	G	T	G7675234T	TP53	NM_000546.6(TP53):c.378C>A:p.Tyr126Ter	coding	Pathogenic
17	7675238	T	C	T7675238C	TP53	NM_000546.6(TP53):c.376-2A>G	coding	Pathogenic/Likely_pathogenic
17	7675337	T	A	T7675337A	TP53	NM_000546.6(TP53):c.376-101A>T	coding	Benign
17	7675361	A	G	A7675361G	TP53	NM_000546.6(TP53):c.376-125T>C	coding	Benign
17	7675397	T	C	T7675397C	TP53	NM_000546.6(TP53):c.376-161A>G	coding	Benign
17	7676033	G	T	G7676033T	TP53	NM_000546.6(TP53):c.336C>A:p.Gly112=	coding	Benign/Likely_benign
17	7676056	C	G	C7676056G	TP53	NM_000546.6(TP53):c.313G>C:p.Gly105Arg	coding	Pathogenic/Likely_pathogenic
17	7676088	G	T	G7676088T	TP53	NM_000546.6(TP53):c.281C>A:p.Ser94Ter	coding	Pathogenic
17	7676114	A	G	A7676114G	TP53	NM_000546.6(TP53):c.255T>C:p.Pro85=	coding	Benign/Likely_benign
17	7676123	C	T	C7676123T	TP53	NM_000546.6(TP53):c.246G>A:p.Pro82=	coding	Benign/Likely_benign
17	7676154	G	C	G7676154C	TP53	NM_000546.6(TP53):c.215C>G:p.Pro72Arg	coding	Benign
17	7676189	T	G	T7676189G	TP53	NM_000546.6(TP53):c.180A>C:p.Pro60=	coding	Benign/Likely_benign
17	7676215	G	A	G7676215A	TP53	NM_000546.6(TP53):c.154C>T:p.Gln52Ter	coding	Pathogenic
17	7676222	A	G	A7676222G	TP53	NM_000546.6(TP53):c.147T>C:p.Asp49=	coding	Benign/Likely_benign
17	7676246	A	G	A7676246G	TP53	NM_000546.6(TP53):c.123T>C:p.Asp41=	coding	Benign/Likely_benign
17	7676273	C	A	C7676273A	TP53	NM_000546.6(TP53):c.97-1G>T	coding	Pathogenic
17	7676421	A	C	A7676421C	TP53	NM_000546.6(TP53):c.75-18T>G	coding	Benign/Likely_benign
17	7676734	C	T	C7676734T	TP53	NM_000546.6(TP53):c.-28-112G>A	noncoding	Benign
17	7688236	G	A	G7688236A	WRAP53	NM_001143990.2(WRAP53):c.-1-412G>A	noncoding	Benign
17	7688237	T	A	T7688237A	WRAP53	NM_001143990.2(WRAP53):c.-1-411T>A	noncoding	Benign
17	7689094	C	T	C7689094T	WRAP53	NM_001143992.2(WRAP53):c.431+15C>T	noncoding	Benign/Likely_benign
17	7689164	C	T	C7689164T	WRAP53	NM_001143992.2(WRAP53):c.432-60C>T	noncoding	Benign
17	7689462	G	A	G7689462A	WRAP53	NM_001143992.2(WRAP53):c.531-128G>A	noncoding	Benign
17	7689484	C	T	C7689484T	WRAP53	NM_001143992.2(WRAP53):c.531-106C>T	noncoding	Benign
17	7700550	A	T	A7700550T	WRAP53	NM_001143992.2(WRAP53):c.643-191A>T	noncoding	Benign
17	7700628	G	C	G7700628C	WRAP53	NM_001143992.2(WRAP53):c.643-113G>C	noncoding	Benign
17	7701507	C	T	C7701507T	WRAP53	NM_001143992.2(WRAP53):c.780C>T:p.Phe260=	coding	Benign
17	7702234	G	T	G7702234T	WRAP53	NM_001143992.2(WRAP53):c.956-110G>T	noncoding	Benign
17	7703701	A	G	A7703701G	WRAP53	Single_allele	noncoding	Benign
17	7846439	C	T	C7846439T	KDM6B	NM_001348716.2(KDM6B):c.496C>T:p.Arg166Ter	coding	Pathogenic
17	7846914	T	C	T7846914C	KDM6B	NM_001348716.2(KDM6B):c.807T>C:p.Ala269=	coding	Benign
17	7847341	C	A	C7847341A	KDM6B	NM_001348716.2(KDM6B):c.1146C>A:p.Cys382Ter	coding	Pathogenic
17	7847529	T	C	T7847529C	KDM6B	NM_001348716.2(KDM6B):c.1258-17T>C	noncoding	Benign
17	7847618	A	G	A7847618G	KDM6B	NM_001348716.2(KDM6B):c.1330A>G:p.Ser444Gly	coding	Benign
17	7847732	C	T	C7847732T	KDM6B	NM_001348716.2(KDM6B):c.1444C>T:p.Pro482Ser	coding	Benign
17	7847820	C	A	C7847820A	KDM6B	NM_001348716.2(KDM6B):c.1532C>A:p.Pro511His	coding	Benign
17	7847826	G	C	G7847826C	KDM6B	NM_001348716.2(KDM6B):c.1538G>C:p.Arg513Pro	coding	Benign/Likely_benign
17	7848433	C	T	C7848433T	KDM6B	NM_001348716.2(KDM6B):c.2145C>T:p.His715=	coding	Benign
17	7848460	G	A	G7848460A	KDM6B	NM_001348716.2(KDM6B):c.2172G>A:p.Pro724=	coding	Benign
17	7849004	C	G	C7849004G	KDM6B	NM_001348716.2(KDM6B):c.2716C>G:p.Pro906Ala	coding	Benign
17	7849205	A	C	A7849205C	KDM6B	NM_001348716.2(KDM6B):c.2917A>C:p.Lys973Gln	coding	Benign
17	7849211	C	T	C7849211T	KDM6B	NM_001348716.2(KDM6B):c.2923C>T:p.Arg975Ter	coding	Pathogenic
17	7851675	G	A	G7851675A	KDM6B	NM_001348716.2(KDM6B):c.4044G>A:p.Leu1348=	coding	Benign
17	7852299	G	A	G7852299A	KDM6B	NM_001348716.2(KDM6B):c.4431G>A:p.Trp1477Ter	coding	Pathogenic
17	7885091	C	G	C7885091G	CHD3	NM_001005271.3(CHD3):c.277+8C>G	noncoding	Benign
17	7890884	C	G	C7890884G	CHD3	NM_001005273.3(CHD3):c.385-56C>G	noncoding	Benign
17	7893487	C	G	C7893487G	CHD3	NM_001005273.3(CHD3):c.711C>G:p.Ser237_Gly238=	coding	Benign
17	7893542	C	T	C7893542T	CHD3	NM_001005273.3(CHD3):c.766C>T:p.Arg256Ter	coding	Pathogenic
17	7899136	A	C	A7899136C	CHD3	NM_001005273.3(CHD3):c.2277A>C:p.Leu759=	coding	Benign
17	7900007	C	G	C7900007G	CHD3	NM_001005273.3(CHD3):c.2656C>G:p.His886Asp	coding	Pathogenic
17	7904571	C	T	C7904571T	CHD3	NM_001005273.3(CHD3):c.4024C>T:p.Arg1342Trp	coding	Pathogenic
17	7907390	G	A	G7907390A	CHD3	NM_001005273.3(CHD3):c.4826G>A:p.Arg1609Gln	coding	Benign/Likely_benign
17	7908418	G	A	G7908418A	CHD3	NM_001005273.3(CHD3):c.5169G>A:p.Trp1723Ter	coding	Pathogenic
17	7908680	T	C	T7908680C	CHD3	NM_001005273.3(CHD3):c.5262-17T>C	noncoding	Benign
17	8002739	A	G	A8002739G	GUCY2D	NM_000180.4(GUCY2D):c.-10+5A>G	noncoding	Benign
17	8003048	A	G	A8003048G	GUCY2D	NM_000180.4(GUCY2D):c.1A>G:p.Met1Val	coding	Pathogenic
17	8003294	C	T	C8003294T	GUCY2D	NM_000180.4(GUCY2D):c.247C>T:p.Arg83Cys	coding	Pathogenic
17	8003354	G	A	G8003354A	GUCY2D	NM_000180.4(GUCY2D):c.307G>A:p.Glu103Lys	coding	Pathogenic/Likely_pathogenic
17	8003362	C	A	C8003362A	GUCY2D	NM_000180.4(GUCY2D):c.315C>A:p.Cys105Ter	coding	Pathogenic
17	8003662	C	A	C8003662A	GUCY2D	NM_000180.4(GUCY2D):c.615C>A:p.Leu205=	coding	Benign
17	8003890	G	T	G8003890T	GUCY2D	NM_000180.4(GUCY2D):c.760G>T:p.Glu254Ter	coding	Pathogenic
17	8007545	G	A	G8007545A	GUCY2D	NM_000180.4(GUCY2D):c.1566+17G>A	noncoding	Benign
17	8007930	G	C	G8007930C	GUCY2D	NM_000180.4(GUCY2D):c.1567-1G>C	noncoding	Pathogenic
17	8008023	T	G	T8008023G	GUCY2D	NM_000180.4(GUCY2D):c.1659T>G:p.Gly553=	coding	Benign
17	8013198	C	T	C8013198T	GUCY2D	NM_000180.4(GUCY2D):c.2209C>T:p.Gln737Ter	coding	Pathogenic
17	8013249	G	T	G8013249T	GUCY2D	NM_000180.4(GUCY2D):c.2260G>T:p.Glu754Ter	coding	Pathogenic
17	8013999	C	T	C8013999T	GUCY2D	NM_000180.4(GUCY2D):c.2383C>T:p.Arg795Trp	coding	Pathogenic
17	8014380	T	A	T8014380A	GUCY2D	NM_000180.4(GUCY2D):c.2413-221T>A	noncoding	Benign
17	8014587	C	T	C8014587T	GUCY2D	NM_000180.4(GUCY2D):c.2413-14C>T	noncoding	Benign
17	8014664	C	T	C8014664T	GUCY2D	NM_000180.4(GUCY2D):c.2476C>T:p.Gln826Ter	coding	Pathogenic
17	8014726	G	C	G8014726C	GUCY2D	NM_000180.4(GUCY2D):c.2538G>C:p.Lys846Asn	coding	Pathogenic
17	8014801	G	T	G8014801T	GUCY2D	NM_000180.4(GUCY2D):c.2576+37G>T	noncoding	Benign
17	8014805	G	C	G8014805C	GUCY2D	NM_000180.4(GUCY2D):c.2576+41G>C	noncoding	Benign
17	8014828	C	T	C8014828T	GUCY2D	NM_000180.4(GUCY2D):c.2577-31C>T	noncoding	Benign
17	8014844	G	A	G8014844A	GUCY2D	NM_000180.4(GUCY2D):c.2577-15G>A	noncoding	Benign
17	8014928	C	G	C8014928G	GUCY2D	NM_000180.4(GUCY2D):c.2646C>G:p.Tyr882Ter	coding	Pathogenic
17	8015013	C	T	C8015013T	GUCY2D	NM_000180.4(GUCY2D):c.2731C>T:p.Leu911Phe	coding	Pathogenic
17	8015824	T	A	T8015824A	GUCY2D	NM_000180.4(GUCY2D):c.3026T>A:p.Met1009Lys	coding	Pathogenic
17	8015835	G	A	G8015835A	GUCY2D	NM_000180.4(GUCY2D):c.3037G>A:p.Gly1013Arg	coding	Pathogenic
17	8015852	C	T	C8015852T	GUCY2D	NM_000180.4(GUCY2D):c.3043+11C>T	noncoding	Benign/Likely_benign
17	8015988	C	G	C8015988G	GUCY2D	NM_000180.4(GUCY2D):c.3105C>G:p.Tyr1035Ter	coding	Pathogenic
17	8016613	T	C	T8016613C	GUCY2D	NM_000180.4(GUCY2D):c.*24+59T>C	noncoding	Benign
17	8072783	G	T	G8072783T	ALOX12B	NM_001139.3(ALOX12B):c.2094C>A:p.Ser698Arg	coding	Pathogenic
17	8072813	G	C	G8072813C	ALOX12B	NM_001139.3(ALOX12B):c.2064C>G:p.Tyr688Ter	coding	Pathogenic
17	8072817	T	C	T8072817C	ALOX12B	NM_001139.3(ALOX12B):c.2060A>G:p.Tyr687Cys	coding	Pathogenic
17	8072836	T	A	T8072836A	ALOX12B	NM_001139.3(ALOX12B):c.2041A>T:p.Lys681Ter	coding	Pathogenic
17	8072842	G	T	G8072842T	ALOX12B	NM_001139.3(ALOX12B):c.2035C>A:p.Arg679Ser	coding	Pathogenic
17	8072877	T	G	T8072877G	ALOX12B	NM_001139.3(ALOX12B):c.2000A>C:p.Gln667Pro	coding	Pathogenic
17	8072914	C	T	C8072914T	ALOX12B	NM_001139.3(ALOX12B):c.1963G>A:p.Glu655Lys	coding	Pathogenic
17	8072941	C	T	C8072941T	ALOX12B	NM_001139.3(ALOX12B):c.1936G>A:p.Gly646Arg	coding	Pathogenic
17	8073146	A	C	A8073146C	ALOX12B	NM_001139.3(ALOX12B):c.1926+2T>G	noncoding	Pathogenic
17	8073147	C	T	C8073147T	ALOX12B	NM_001139.3(ALOX12B):c.1926+1G>A	noncoding	Pathogenic/Likely_pathogenic
17	8073203	G	A	G8073203A	ALOX12B	NM_001139.3(ALOX12B):c.1871C>T:p.Thr624Ile	coding	Pathogenic
17	8073213	C	A	C8073213A	ALOX12B	NM_001139.3(ALOX12B):c.1861G>T:p.Asp621Tyr	coding	Pathogenic
17	8073245	G	A	G8073245A	ALOX12B	NM_001139.3(ALOX12B):c.1829C>T:p.Thr610Ile	coding	Pathogenic
17	8073253	C	G	C8073253G	ALOX12B	NM_001139.3(ALOX12B):c.1821G>C:p.Lys607Asn	coding	Pathogenic
17	8073277	C	A	C8073277A	ALOX12B	NM_001139.3(ALOX12B):c.1797G>T:p.Met599Ile	coding	Pathogenic
17	8073287	G	A	G8073287A	ALOX12B	NM_001139.3(ALOX12B):c.1787C>T:p.Pro596Leu	coding	Pathogenic
17	8073599	A	T	A8073599T	ALOX12B	NM_001139.3(ALOX12B):c.1755+58T>A	noncoding	Benign
17	8073670	A	C	A8073670C	ALOX12B	NM_001139.3(ALOX12B):c.1742T>G:p.Val581Gly	coding	Pathogenic
17	8073680	G	A	G8073680A	ALOX12B	NM_001139.3(ALOX12B):c.1732C>T:p.His578Tyr	coding	Pathogenic
17	8073718	C	G	C8073718G	ALOX12B	NM_001139.3(ALOX12B):c.1694G>C:p.Arg565Pro	coding	Pathogenic
17	8073736	G	A	G8073736A	ALOX12B	NM_001139.3(ALOX12B):c.1676C>T:p.Thr559Ile	coding	Pathogenic
17	8073764	G	T	G8073764T	ALOX12B	NM_001139.3(ALOX12B):c.1655-7C>A	noncoding	Pathogenic
17	8073787	A	G	A8073787G	ALOX12B	NM_001139.3(ALOX12B):c.1655-30T>C	noncoding	Benign
17	8073837	C	T	C8073837T	ALOX12B	NM_001139.3(ALOX12B):c.1655-80G>A	noncoding	Benign
17	8074050	C	T	C8074050T	ALOX12B	NM_001139.3(ALOX12B):c.1655-293G>A	noncoding	Benign
17	8075433	G	A	G8075433A	ALOX12B	NM_001139.3(ALOX12B):c.1654+162C>T	noncoding	Benign
17	8075501	T	A	T8075501A	ALOX12B	NM_001139.3(ALOX12B):c.1654+94A>T	noncoding	Benign
17	8075592	T	C	T8075592C	ALOX12B	NM_001139.3(ALOX12B):c.1654+3A>G	noncoding	Pathogenic
17	8075594	C	T	C8075594T	ALOX12B	NM_001139.3(ALOX12B):c.1654+1G>A	noncoding	Pathogenic
17	8075615	A	C	A8075615C	ALOX12B	NM_001139.3(ALOX12B):c.1634T>G:p.Leu545Arg	coding	Pathogenic
17	8075619	A	G	A8075619G	ALOX12B	NM_001139.3(ALOX12B):c.1630T>C:p.Cys544Arg	coding	Pathogenic
17	8075636	T	G	T8075636G	ALOX12B	NM_001139.3(ALOX12B):c.1613A>C:p.Gln538Pro	coding	Pathogenic
17	8075655	C	T	C8075655T	ALOX12B	NM_001139.3(ALOX12B):c.1594G>A:p.Glu532Lys	coding	Pathogenic
17	8075670	C	T	C8075670T	ALOX12B	NM_001139.3(ALOX12B):c.1579G>A:p.Val527Met	coding	Pathogenic/Likely_pathogenic
17	8075717	C	A	C8075717A	ALOX12B	NM_001139.3(ALOX12B):c.1533-1G>T	coding	Pathogenic
17	8076145	A	G	A8076145G	ALOX12B	NM_001139.3(ALOX12B):c.1532+30T>C	noncoding	Benign
17	8076244	C	T	C8076244T	ALOX12B	NM_001139.3(ALOX12B):c.1463G>A:p.Arg488His	coding	Pathogenic
17	8076280	T	C	T8076280C	ALOX12B	NM_001139.3(ALOX12B):c.1427A>G:p.Tyr476Cys	coding	Pathogenic
17	8076322	C	T	C8076322T	ALOX12B	NM_001139.3(ALOX12B):c.1385G>A:p.Gly462Asp	coding	Pathogenic
17	8076338	A	G	A8076338G	ALOX12B	NM_001139.3(ALOX12B):c.1369T>C:p.Ser457Pro	coding	Pathogenic
17	8076670	C	T	C8076670T	ALOX12B	NM_001139.3(ALOX12B):c.1349G>A:p.Gly450Glu	coding	Pathogenic
17	8076695	G	A	G8076695A	ALOX12B	NM_001139.3(ALOX12B):c.1324C>T:p.Arg442Trp	coding	Pathogenic
17	8076710	T	A	T8076710A	ALOX12B	NM_001139.3(ALOX12B):c.1309A>T:p.Ile437Phe	coding	Pathogenic
17	8077000	G	A	G8077000A	ALOX12B	NM_001139.3(ALOX12B):c.1265C>T:p.Pro422Leu	coding	Pathogenic
17	8077004	G	A	G8077004A	ALOX12B	NM_001139.3(ALOX12B):c.1261C>T:p.His421Tyr	coding	Pathogenic
17	8077036	C	A	C8077036A	ALOX12B	NM_001139.3(ALOX12B):c.1229G>T:p.Cys410Phe	coding	Benign
17	8077046	C	T	C8077046T	ALOX12B	NM_001139.3(ALOX12B):c.1219G>A:p.Glu407Lys	coding	Pathogenic
17	8077054	A	C	A8077054C	ALOX12B	NM_001139.3(ALOX12B):c.1211T>G:p.Leu404Arg	coding	Pathogenic
17	8077073	G	A	G8077073A	ALOX12B	NM_001139.3(ALOX12B):c.1192C>T:p.His398Tyr	coding	Pathogenic
17	8077108	C	T	C8077108T	ALOX12B	NM_001139.3(ALOX12B):c.1157G>A:p.Arg386His	coding	Pathogenic
17	8077109	G	A	G8077109A	ALOX12B	NM_001139.3(ALOX12B):c.1156C>T:p.Arg386Cys	coding	Pathogenic/Likely_pathogenic
17	8077138	C	T	C8077138T	ALOX12B	NM_001139.3(ALOX12B):c.1127G>A:p.Trp376Ter	coding	Pathogenic
17	8077187	G	C	G8077187C	ALOX12B	NM_001139.3(ALOX12B):c.1078C>G:p.Gln360Glu	coding	Pathogenic
17	8077464	T	C	T8077464C	ALOX12B	NM_001139.3(ALOX12B):c.1072-271A>G	noncoding	Benign
17	8079395	C	G	C8079395G	ALOX12B	NM_001139.3(ALOX12B):c.1071+1G>C	noncoding	Pathogenic
17	8079410	G	T	G8079410T	ALOX12B	NM_001139.3(ALOX12B):c.1057C>A:p.Pro353Thr	coding	Pathogenic
17	8079442	A	G	A8079442G	ALOX12B	NM_001139.3(ALOX12B):c.1025T>C:p.Leu342Pro	coding	Pathogenic
17	8079529	A	G	A8079529G	ALOX12B	NM_001139.3(ALOX12B):c.938T>C:p.Ile313Thr	coding	Pathogenic
17	8079540	C	G	C8079540G	ALOX12B	NM_001139.3(ALOX12B):c.928-1G>C	coding	Pathogenic
17	8079659	G	A	G8079659A	ALOX12B	NM_001139.3(ALOX12B):c.927+110C>T	noncoding	Benign
17	8079694	G	A	G8079694A	ALOX12B	NM_001139.3(ALOX12B):c.927+75C>T	noncoding	Benign
17	8079803	A	G	A8079803G	ALOX12B	NM_001139.3(ALOX12B):c.893T>C:p.Leu298Pro	coding	Pathogenic
17	8079882	C	A	C8079882A	ALOX12B	NM_001139.3(ALOX12B):c.814G>T:p.Val272Phe	coding	Pathogenic
17	8079903	C	T	C8079903T	ALOX12B	NM_001139.3(ALOX12B):c.793G>A:p.Gly265Arg	coding	Pathogenic
17	8079937	G	T	G8079937T	ALOX12B	NM_001139.3(ALOX12B):c.759C>A:p.Tyr253Ter	coding	Pathogenic
17	8080291	C	T	C8080291T	ALOX12B	NM_001139.3(ALOX12B):c.698G>A:p.Trp233Ter	coding	Pathogenic
17	8080363	G	A	G8080363A	ALOX12B	NM_001139.3(ALOX12B):c.651-25C>T	noncoding	Benign
17	8080481	A	G	A8080481G	ALOX12B	NM_001139.3(ALOX12B):c.651-143T>C	noncoding	Benign
17	8080839	A	C	A8080839C	ALOX12B	NM_001139.3(ALOX12B):c.527+45T>G	noncoding	Benign
17	8080883	C	T	C8080883T	ALOX12B	NM_001139.3(ALOX12B):c.527+1G>A	noncoding	Pathogenic
17	8081161	G	A	G8081161A	ALOX12B	NM_001139.3(ALOX12B):c.379C>T:p.Pro127Ser	coding	Benign/Likely_benign
17	8081169	T	A	T8081169A	ALOX12B	NM_001139.3(ALOX12B):c.371A>T:p.Asp124Val	coding	Pathogenic
17	8085729	G	T	G8085729T	ALOX12B	NM_001139.3(ALOX12B):c.352+287C>A	noncoding	Benign
17	8085741	C	T	C8085741T	ALOX12B	NM_001139.3(ALOX12B):c.352+275G>A	noncoding	Benign
17	8086027	C	T	C8086027T	ALOX12B	NM_001139.3(ALOX12B):c.341G>A:p.Arg114Gln	coding	Pathogenic
17	8086043	C	A	C8086043A	ALOX12B	NM_001139.3(ALOX12B):c.325G>T:p.Glu109Ter	coding	Pathogenic
17	8086061	G	A	G8086061A	ALOX12B	NM_001139.3(ALOX12B):c.307C>T:p.Gln103Ter	coding	Pathogenic
17	8086069	G	A	G8086069A	ALOX12B	NM_001139.3(ALOX12B):c.299C>T:p.Pro100Leu	coding	Pathogenic
17	8086071	G	T	G8086071T	ALOX12B	NM_001139.3(ALOX12B):c.297C>A:p.Phe99Leu	coding	Pathogenic
17	8086159	T	G	T8086159G	ALOX12B	NM_001139.3(ALOX12B):c.209A>C:p.His70Pro	coding	Pathogenic
17	8087249	C	G	C8087249G	ALOX12B	NM_001139.3(ALOX12B):c.147+47G>C	noncoding	Benign
17	8087355	G	A	G8087355A	ALOX12B	NM_001139.3(ALOX12B):c.88C>T:p.Gln30Ter	coding	Pathogenic
17	8087372	A	G	A8087372G	ALOX12B	NM_001139.3(ALOX12B):c.71T>C:p.Leu24Pro	coding	Pathogenic
17	8087376	A	G	A8087376G	ALOX12B	NM_001139.3(ALOX12B):c.67T>C:p.Ser23Pro	coding	Pathogenic
17	8087385	C	A	C8087385A	ALOX12B	NM_001139.3(ALOX12B):c.58G>T:p.Asp20Tyr	coding	Pathogenic
17	8087396	G	A	G8087396A	ALOX12B	NM_001139.3(ALOX12B):c.47C>T:p.Ser16Leu	coding	Pathogenic
17	8087396	G	C	G8087396C	ALOX12B	NM_001139.3(ALOX12B):c.47C>G:p.Ser16Trp	coding	Pathogenic
17	8087771	C	T	C8087771T	ALOX12B	Single_allele	noncoding	Benign
17	8103101	T	G	T8103101G	ALOXE3	NM_021628.3(ALOXE3):c.1956+222A>C	noncoding	Benign
17	8103325	G	A	G8103325A	ALOXE3	NM_021628.3(ALOXE3):c.1954C>T:p.Gln652Ter	coding	Pathogenic
17	8103467	A	T	A8103467T	ALOXE3	NM_021628.3(ALOXE3):c.1812T>A:p.Asn604Lys	coding	Pathogenic
17	8103580	G	A	G8103580A	ALOXE3	NM_021628.3(ALOXE3):c.1786-87C>T	noncoding	Benign
17	8103687	T	C	T8103687C	ALOXE3	NM_021628.3(ALOXE3):c.1786-194A>G	noncoding	Benign
17	8104332	T	C	T8104332C	ALOXE3	NM_021628.3(ALOXE3):c.1685-117A>G	noncoding	Benign
17	8104365	C	T	C8104365T	ALOXE3	NM_021628.3(ALOXE3):c.1685-150G>A	noncoding	Benign
17	8108208	A	C	A8108208C	ALOXE3	NM_021628.3(ALOXE3):c.1684+260T>G	noncoding	Benign
17	8108706	G	A	G8108706A	ALOXE3	NM_021628.3(ALOXE3):c.1563-117C>T	noncoding	Benign
17	8109141	G	A	G8109141A	ALOXE3	NM_021628.3(ALOXE3):c.1562+33C>T	noncoding	Benign
17	8109158	G	T	G8109158T	ALOXE3	NM_021628.3(ALOXE3):c.1562+16C>A	noncoding	Benign
17	8109344	C	T	C8109344T	ALOXE3	NM_021628.3(ALOXE3):c.1393-1G>A	coding	Pathogenic
17	8109710	G	A	G8109710A	ALOXE3	NM_021628.3(ALOXE3):c.1392+206C>T	noncoding	Benign
17	8109879	G	C	G8109879C	ALOXE3	NM_021628.3(ALOXE3):c.1392+37C>G	noncoding	Benign
17	8110055	C	G	C8110055G	ALOXE3	NM_021628.3(ALOXE3):c.1305+37G>C	noncoding	Benign
17	8110151	A	G	A8110151G	ALOXE3	NM_021628.3(ALOXE3):c.1246T>C:p.Cys416Arg	coding	Pathogenic
17	8110195	A	T	A8110195T	ALOXE3	NM_021628.3(ALOXE3):c.1202T>A:p.Leu401Gln	coding	Pathogenic
17	8110204	G	A	G8110204A	ALOXE3	NM_021628.3(ALOXE3):c.1193C>T:p.Ser398Phe	coding	Pathogenic
17	8110233	C	A	C8110233A	ALOXE3	NM_021628.3(ALOXE3):c.1164G>T:p.Trp388Cys	coding	Pathogenic
17	8110425	C	T	C8110425T	ALOXE3	NM_021628.3(ALOXE3):c.1061G>A:p.Trp354Ter	coding	Pathogenic
17	8110763	C	A	C8110763A	ALOXE3	NM_021628.3(ALOXE3):c.958-235G>T	noncoding	Benign
17	8111098	A	G	A8111098G	ALOXE3	NM_021628.3(ALOXE3):c.957+261T>C	noncoding	Benign
17	8111245	C	T	C8111245T	ALOXE3	NM_021628.3(ALOXE3):c.957+114G>A	noncoding	Benign
17	8111359	C	T	C8111359T	ALOXE3	NM_021628.3(ALOXE3):c.957G>A:p.Glu319=	coding	Pathogenic
17	8111393	A	G	A8111393G	ALOXE3	NM_021628.3(ALOXE3):c.923T>C:p.Leu308Pro	coding	Pathogenic
17	8111483	T	C	T8111483C	ALOXE3	NM_021628.3(ALOXE3):c.833A>G:p.Tyr278Cys	coding	Pathogenic
17	8112210	A	G	A8112210G	ALOXE3	NM_021628.3(ALOXE3):c.681-14T>C	noncoding	Benign
17	8112234	G	A	G8112234A	ALOXE3	NM_021628.3(ALOXE3):c.681-38C>T	noncoding	Benign
17	8112261	G	C	G8112261C	ALOXE3	NM_021628.3(ALOXE3):c.681-65C>G	noncoding	Benign
17	8112479	C	G	C8112479G	ALOXE3	NM_021628.3(ALOXE3):c.681-283G>C	noncoding	Benign
17	8115188	C	T	C8115188T	ALOXE3	NM_021628.3(ALOXE3):c.435-131G>A	noncoding	Benign
17	8115644	T	C	T8115644C	ALOXE3	NM_021628.3(ALOXE3):c.397A>G:p.Arg133Gly	coding	Pathogenic
17	8115689	C	G	C8115689G	ALOXE3	NM_021628.3(ALOXE3):c.353-1G>C	coding	Pathogenic
17	8115807	C	T	C8115807T	ALOXE3	NM_021628.3(ALOXE3):c.353-119G>A	noncoding	Benign
17	8116801	G	T	G8116801T	ALOXE3	NM_021628.3(ALOXE3):c.327C>A:p.Cys109Ter	coding	Pathogenic
17	8116820	T	G	T8116820G	ALOXE3	NM_021628.3(ALOXE3):c.308A>C:p.Gln103Pro	coding	Pathogenic
17	8116857	C	A	C8116857A	ALOXE3	NM_021628.3(ALOXE3):c.271G>T:p.Glu91Ter	coding	Pathogenic
17	8117058	A	C	A8117058C	ALOXE3	NM_021628.3(ALOXE3):c.148-78T>G	noncoding	Benign
17	8118381	G	T	G8118381T	ALOXE3	NM_021628.3(ALOXE3):c.-313-78C>A	noncoding	Benign
17	8118747	G	A	G8118747A	ALOXE3	NM_001165960.1(ALOXE3):c.32C>T:p.Pro11Leu	coding	Benign
17	8118821	C	A	C8118821A	ALOXE3	NM_001165960.1(ALOXE3):c.-43G>T	noncoding	Benign
17	8118883	C	T	C8118883T	ALOXE3	NM_001165960.1(ALOXE3):c.-105G>A	noncoding	Benign
17	8119147	C	T	C8119147T	ALOXE3	Single_allele	noncoding	Benign
17	8121440	C	A	C8121440A	HES7	NM_001165967.2(HES7):c.*131G>T	noncoding	Benign
17	8121490	C	A	C8121490A	HES7	NM_001165967.2(HES7):c.*81G>T	noncoding	Benign
17	8122760	C	G	C8122760G	HES7	NM_001165967.2(HES7):c.138+271G>C	noncoding	Benign
17	8124000	A	G	A8124000G	HES7	NM_001165967.2(HES7):c.42+43T>C	noncoding	Benign
17	8124275	G	T	G8124275T	HES7	Single_allele	noncoding	Benign
17	8124326	G	A	G8124326A	HES7	Single_allele	noncoding	Benign
17	8161461	C	G	C8161461G	VAMP2	NM_014232.3(VAMP2):c.334+12G>C	noncoding	Benign
17	8173326	T	C	T8173326C	TMEM107	NM_183065.4(TMEM107):c.*877A>G	noncoding	Benign
17	8173337	C	T	C8173337T	TMEM107	NM_183065.4(TMEM107):c.*866G>A	noncoding	Benign
17	8173349	T	G	T8173349G	TMEM107	NM_183065.4(TMEM107):c.*854A>C	noncoding	Benign
17	8173423	A	G	A8173423G	TMEM107	NM_183065.4(TMEM107):c.*780T>C	noncoding	Benign
17	8173443	C	A	C8173443A	SNORD118;TMEM107	NM_183065.4(TMEM107):c.*760G>T	noncoding	Benign
17	8173460	C	T	C8173460T	SNORD118;TMEM107	NM_183065.4(TMEM107):c.*743G>A	noncoding	Benign
17	8173473	G	A	G8173473A	SNORD118	NM_183065.4(TMEM107):c.*730C>T	noncoding	Benign
17	8173478	T	C	T8173478C	SNORD118	NM_183065.4(TMEM107):c.*725A>G	noncoding	Benign
17	8173483	G	A	G8173483A	SNORD118	NM_183065.4(TMEM107):c.*720C>T	noncoding	Benign
17	8173483	G	C	G8173483C	SNORD118	NM_183065.4(TMEM107):c.*720C>G	noncoding	Benign
17	8173484	T	A	T8173484A	SNORD118;TMEM107	NM_183065.4(TMEM107):c.*719A>T	noncoding	Benign
17	8173484	T	C	T8173484C	SNORD118	NM_183065.4(TMEM107):c.*719A>G	noncoding	Benign
17	8173518	G	A	G8173518A	SNORD118	NM_183065.4(TMEM107):c.*685C>T	noncoding	Benign
17	8173534	T	C	T8173534C	SNORD118	NM_183065.4(TMEM107):c.*669A>G	noncoding	Benign
17	8173535	G	A	G8173535A	SNORD118	NM_183065.4(TMEM107):c.*668C>T	noncoding	Benign
17	8173537	T	C	T8173537C	SNORD118	NM_183065.4(TMEM107):c.*666A>G	noncoding	Benign
17	8173545	G	A	G8173545A	SNORD118	NM_183065.4(TMEM107):c.*658C>T	noncoding	Benign
17	8173546	C	T	C8173546T	SNORD118	NM_183065.4(TMEM107):c.*657G>A	noncoding	Benign
17	8173552	G	A	G8173552A	SNORD118	NM_183065.4(TMEM107):c.*651C>T	noncoding	Benign
17	8173553	G	A	G8173553A	SNORD118;TMEM107	NM_183065.4(TMEM107):c.*650C>T	noncoding	Benign
17	8173555	G	A	G8173555A	SNORD118	NM_183065.4(TMEM107):c.*648C>T	noncoding	Benign
17	8173556	G	A	G8173556A	SNORD118	NM_183065.4(TMEM107):c.*647C>T	noncoding	Benign
17	8173559	G	A	G8173559A	SNORD118	NM_183065.4(TMEM107):c.*644C>T	noncoding	Benign
17	8173564	G	A	G8173564A	SNORD118	NM_183065.4(TMEM107):c.*639C>T	noncoding	Benign
17	8173578	C	T	C8173578T	SNORD118	NM_183065.4(TMEM107):c.*625G>A	noncoding	Benign
17	8173580	C	T	C8173580T	SNORD118	NM_183065.4(TMEM107):c.*623G>A	noncoding	Benign
17	8173581	C	T	C8173581T	SNORD118	NM_183065.4(TMEM107):c.*622G>A	noncoding	Benign/Likely_benign
17	8173593	A	G	A8173593G	TMEM107	NM_183065.4(TMEM107):c.*610T>C	noncoding	Benign
17	8173598	C	G	C8173598G	TMEM107	NM_183065.4(TMEM107):c.*605G>C	noncoding	Benign
17	8173598	C	T	C8173598T	SNORD118	NM_183065.4(TMEM107):c.*605G>A	noncoding	Benign
17	8173599	A	C	A8173599C	TMEM107	NM_183065.4(TMEM107):c.*604T>G	noncoding	Benign
17	8175447	T	C	T8175447C	TMEM107	NM_183065.4(TMEM107):c.256+310A>G	noncoding	Benign
17	8175711	G	C	G8175711C	TMEM107	NM_183065.4(TMEM107):c.256+46C>G	noncoding	Benign
17	8176178	T	G	T8176178G	TMEM107	NM_183065.4(TMEM107):c.87+22A>C	noncoding	Benign
17	8228336	G	A	G8228336A	CTC1	NM_025099.6(CTC1):c.3515-17C>T	noncoding	Benign
17	8228347	C	T	C8228347T	CTC1	NM_025099.6(CTC1):c.3515-28G>A	noncoding	Benign
17	8228929	A	C	A8228929C	CTC1	NM_025099.6(CTC1):c.3222-37T>G	noncoding	Benign
17	8229129	C	G	C8229129G	CTC1	NM_025099.6(CTC1):c.3221+13G>C	noncoding	Benign/Likely_benign
17	8231196	A	G	A8231196G	CTC1	NM_025099.6(CTC1):c.2669+80T>C	noncoding	Benign
17	8231364	C	A	C8231364A	CTC1	NM_025099.6(CTC1):c.2581G>T:p.Glu861Ter	coding	Pathogenic
17	8231749	G	A	G8231749A	CTC1	NM_025099.6(CTC1):c.2452C>T:p.Arg818Ter	coding	Pathogenic
17	8231866	G	A	G8231866A	CTC1	NM_025099.6(CTC1):c.2385+37C>T	noncoding	Benign
17	8232774	C	T	C8232774T	CTC1	NM_025099.6(CTC1):c.1945+132G>A	noncoding	Benign
17	8232933	G	A	G8232933A	CTC1	NM_025099.6(CTC1):c.1918C>T:p.Gln640Ter	coding	Pathogenic
17	8234419	G	A	G8234419A	CTC1	NM_025099.6(CTC1):c.1818+36C>T	noncoding	Benign
17	8234520	G	A	G8234520A	CTC1	NM_025099.6(CTC1):c.1753C>T:p.Gln585Ter	coding	Pathogenic
17	8235325	A	C	A8235325C	CTC1	NM_025099.6(CTC1):c.1207-40T>G	noncoding	Benign
17	8235881	G	A	G8235881A	CTC1	NM_025099.6(CTC1):c.1156C>T:p.Gln386Ter	coding	Pathogenic
17	8236009	A	G	A8236009G	CTC1	NM_025099.6(CTC1):c.1077+49T>C	noncoding	Benign
17	8236021	T	C	T8236021C	CTC1	NM_025099.6(CTC1):c.1077+37A>G	noncoding	Benign
17	8236255	G	A	G8236255A	CTC1	NM_025099.6(CTC1):c.880C>T:p.Gln294Ter	coding	Pathogenic
17	8236323	C	T	C8236323T	CTC1	NM_025099.6(CTC1):c.812G>A:p.Trp271Ter	coding	Pathogenic
17	8236442	T	C	T8236442C	CTC1	NM_025099.6(CTC1):c.793-100A>G	noncoding	Benign
17	8236454	A	T	A8236454T	CTC1	NM_025099.6(CTC1):c.793-112T>A	noncoding	Benign
17	8238006	T	C	T8238006C	CTC1	NM_025099.6(CTC1):c.647+25A>G	noncoding	Benign
17	8238220	C	T	C8238220T	CTC1	NM_025099.6(CTC1):c.458G>A:p.Trp153Ter	coding	Pathogenic
17	8238782	G	A	G8238782A	CTC1	NM_025099.6(CTC1):c.198-153C>T	noncoding	Benign
17	8238811	G	A	G8238811A	CTC1	NM_025099.6(CTC1):c.198-182C>T	noncoding	Benign
17	8238868	A	G	A8238868G	CTC1	NM_025099.6(CTC1):c.198-239T>C	noncoding	Benign
17	8242750	T	C	T8242750C	CTC1	NM_025099.6(CTC1):c.197+235A>G	noncoding	Benign
17	8242847	C	A	C8242847A	CTC1	NM_025099.6(CTC1):c.197+138G>T	noncoding	Benign
17	8242909	T	C	T8242909C	CTC1	NM_025099.6(CTC1):c.197+76A>G	noncoding	Benign
17	8243032	C	T	C8243032T	CTC1	NM_025099.6(CTC1):c.150G>A:p.Trp50Ter	coding	Pathogenic
17	8247845	A	C	A8247845C	CTC1	NM_025099.6(CTC1):c.33+159T>G	noncoding	Benign
17	8247860	G	A	G8247860A	CTC1	NM_025099.6(CTC1):c.33+144C>T	noncoding	Benign
17	8248035	A	G	A8248035G	CTC1	NM_025099.6(CTC1):c.2T>C:p.Met1Thr	coding	Pathogenic
17	8248158	C	T	C8248158T	CTC1	Single_allele	noncoding	Benign
17	8288620	C	T	C8288620T	RANGRF	NM_001330127.1(RANGRF):c.-169C>T	noncoding	Benign
17	8288633	A	G	A8288633G	RANGRF	NM_001330127.1(RANGRF):c.-156A>G	noncoding	Benign
17	8289089	C	G	C8289089G	RANGRF	NM_016492.5(RANGRF):c.194+17C>G	coding	Benign
17	8290155	G	A	G8290155A	RANGRF	NM_001320870.2(SLC25A35):c.*350C>T	noncoding	Benign
17	8290260	G	C	G8290260C	RANGRF	NM_001320870.2(SLC25A35):c.*245C>G	noncoding	Benign
17	8312216	C	T	C8312216T	ARHGEF15	NM_173728.4(ARHGEF15):c.177C>T:p.Thr59=	coding	Benign
17	8313150	T	C	T8313150C	ARHGEF15	NM_173728.4(ARHGEF15):c.830T>C:p.Leu277Pro	coding	Benign
17	8315918	C	T	C8315918T	ARHGEF15	NM_173728.4(ARHGEF15):c.1574+11C>T	noncoding	Benign
17	8316160	A	G	A8316160G	ARHGEF15	NM_173728.4(ARHGEF15):c.1704+12A>G	noncoding	Benign
17	8318988	C	T	C8318988T	ARHGEF15	NM_173728.4(ARHGEF15):c.2034-19C>T	noncoding	Benign
17	8319484	C	T	C8319484T	ARHGEF15	NM_173728.4(ARHGEF15):c.2270-15C>T	noncoding	Benign
17	8320958	T	C	T8320958C	ARHGEF15	NM_173728.4(ARHGEF15):c.2491T>C:p.Ser831Pro	coding	Benign
17	8377675	T	C	T8377675C	RPL26	NM_000987.5(RPL26):c.327A>G:p.Leu109=	coding	Benign/Likely_benign
17	8377741	A	C	A8377741C	RPL26	NM_000987.5(RPL26):c.310-49T>G	noncoding	Benign
17	8380061	C	G	C8380061G	RPL26	NM_000987.5(RPL26):c.169-125G>C	noncoding	Benign
17	8380168	G	C	G8380168C	RPL26	NM_000987.5(RPL26):c.169-232C>G	noncoding	Benign
17	8382080	T	C	T8382080C	RPL26	NM_000987.5(RPL26):c.168+63A>G	noncoding	Benign
17	8382126	C	T	C8382126T	RPL26	NM_000987.5(RPL26):c.168+17G>A	noncoding	Benign
17	8487415	A	G	A8487415G	MYH10	NM_001256012.3(MYH10):c.5046+18T>C	noncoding	Benign
17	8488835	G	A	G8488835A	MYH10	NM_001256012.3(MYH10):c.4885-1241C>T	noncoding	Benign
17	8513583	C	T	C8513583T	MYH10	NM_001256012.3(MYH10):c.2700G>A:p.Thr900=	coding	Benign
17	8797460	G	A	G8797460A	MFSD6L	NM_152599.4(MFSD6L):c.1661C>T:p.Ser554Leu	coding	Benign
17	8797664	C	T	C8797664T	MFSD6L	NM_152599.4(MFSD6L):c.1457G>A:p.Arg486His	coding	Benign
17	8797798	G	A	G8797798A	MFSD6L	NM_152599.4(MFSD6L):c.1323C>T:p.Leu441=	coding	Benign
17	8797969	A	G	A8797969G	MFSD6L	NM_152599.4(MFSD6L):c.1152T>C:p.Thr384=	coding	Benign
17	8798105	A	G	A8798105G	MFSD6L	NM_152599.4(MFSD6L):c.1016T>C:p.Ile339Thr	coding	Benign
17	8798383	A	G	A8798383G	MFSD6L	NM_152599.4(MFSD6L):c.738T>C:p.Phe246=	coding	Benign
17	8798481	G	T	G8798481T	MFSD6L	NM_152599.4(MFSD6L):c.640C>A:p.Pro214Thr	coding	Benign
17	8799250	C	T	C8799250T	MFSD6L	NM_152599.4(MFSD6L):c.-130G>A	noncoding	Benign
17	8799326	G	T	G8799326T	MFSD6L	NM_152599.4(MFSD6L):c.-206C>A	noncoding	Benign
17	8799389	G	T	G8799389T	MFSD6L	Single_allele	noncoding	Benign
17	8799421	G	C	G8799421C	MFSD6L	Single_allele	noncoding	Benign
17	8799483	C	T	C8799483T	MFSD6L	Single_allele	noncoding	Benign
17	8799529	G	A	G8799529A	MFSD6L	Single_allele	noncoding	Benign
17	8799560	G	A	G8799560A	MFSD6L	Single_allele	noncoding	Benign
17	8799596	G	A	G8799596A	MFSD6L	Single_allele	noncoding	Benign
17	8880832	T	C	T8880832C	PIK3R5	NM_001142633.3(PIK3R5):c.2496-46A>G	noncoding	Benign
17	8881044	A	G	A8881044G	PIK3R5	NM_001142633.3(PIK3R5):c.2383-27T>C	noncoding	Benign
17	8890697	A	G	A8890697G	PIK3R5	NM_001142633.3(PIK3R5):c.657+41T>C	noncoding	Benign
17	8905758	G	A	G8905758A	PIK3R5	NM_001142633.3(PIK3R5):c.205-21C>T	noncoding	Benign
17	9028765	C	T	C9028765T	NTN1	NM_004822.3(NTN1):c.1018+5374C>T	noncoding	Benign
17	9608169	T	C	T9608169C	CFAP52	NM_145054.5(CFAP52):c.804T>C:p.Ser268=	coding	Benign
17	9608175	C	T	C9608175T	CFAP52	NM_145054.5(CFAP52):c.810C>T:p.Ala270=	coding	Benign
17	9608176	G	A	G9608176A	CFAP52	NM_145054.5(CFAP52):c.811G>A:p.Gly271Arg	coding	Pathogenic
17	9612460	G	A	G9612460A	CFAP52	NM_145054.5(CFAP52):c.1006G>A:p.Glu336Lys	coding	Benign
17	9633051	T	C	T9633051C	CFAP52	NM_145054.5(CFAP52):c.1320+18T>C	noncoding	Benign
17	9641789	G	A	G9641789A	CFAP52	NM_145054.5(CFAP52):c.1641G>A:p.Ser547=	coding	Benign
17	9916961	T	C	T9916961C	GAS7	NM_201433.2(GAS7):c.*267A>G	noncoding	Benign
17	9917378	C	T	C9917378T	GAS7	NM_201433.2(GAS7):c.1318-37G>A	noncoding	Benign
17	9917422	A	G	A9917422G	GAS7	NM_201433.2(GAS7):c.1318-81T>C	noncoding	Benign
17	9917436	G	C	G9917436C	GAS7	NM_201433.2(GAS7):c.1318-95C>G	noncoding	Benign
17	9917514	C	A	C9917514A	GAS7	NM_201433.2(GAS7):c.1318-173G>T	noncoding	Benign
17	9917566	C	T	C9917566T	GAS7	NM_201433.2(GAS7):c.1318-225G>A	noncoding	Benign
17	9917806	C	G	C9917806G	GAS7	NM_201433.2(GAS7):c.1317+195G>C	noncoding	Benign
17	9917932	C	T	C9917932T	GAS7	NM_201433.2(GAS7):c.1317+69G>A	noncoding	Benign
17	9918135	C	T	C9918135T	GAS7	NM_201433.2(GAS7):c.1219-36G>A	noncoding	Benign
17	9918157	C	T	C9918157T	GAS7	NM_201433.2(GAS7):c.1219-58G>A	noncoding	Benign
17	9918268	T	C	T9918268C	GAS7	NM_201433.2(GAS7):c.1219-169A>G	noncoding	Benign
17	9918301	T	G	T9918301G	GAS7	NM_201433.2(GAS7):c.1219-202A>C	noncoding	Benign
17	9919441	T	C	T9919441C	GAS7	NM_201433.2(GAS7):c.1218+185A>G	noncoding	Benign
17	9925199	C	T	C9925199T	GAS7	NM_201433.2(GAS7):c.1138+277G>A	noncoding	Benign
17	9925939	T	C	T9925939C	GAS7	NM_201433.2(GAS7):c.1015-340A>G	noncoding	Benign
17	9926316	C	T	C9926316T	GAS7	NM_201433.2(GAS7):c.1014+325G>A	noncoding	Benign
17	9926349	G	C	G9926349C	GAS7	NM_201433.2(GAS7):c.1014+292C>G	noncoding	Benign
17	9926364	G	A	G9926364A	GAS7	NM_201433.2(GAS7):c.1014+277C>T	noncoding	Benign
17	9926569	G	T	G9926569T	GAS7	NM_201433.2(GAS7):c.1014+72C>A	noncoding	Benign
17	9926783	A	G	A9926783G	GAS7	NM_201433.2(GAS7):c.886-14T>C	noncoding	Benign
17	9926854	C	T	C9926854T	GAS7	NM_201433.2(GAS7):c.886-85G>A	noncoding	Benign
17	9926977	C	A	C9926977A	GAS7	NM_201433.2(GAS7):c.886-208G>T	noncoding	Benign
17	9939899	G	A	G9939899A	GAS7	NM_201433.2(GAS7):c.806+227C>T	noncoding	Benign
17	9942957	T	G	T9942957G	GAS7	NM_201433.2(GAS7):c.731+164A>C	noncoding	Benign
17	9943048	G	A	G9943048A	GAS7	NM_201433.2(GAS7):c.731+73C>T	noncoding	Benign
17	9943072	G	A	G9943072A	GAS7	NM_201433.2(GAS7):c.731+49C>T	noncoding	Benign
17	9943204	G	C	G9943204C	GAS7	NM_201433.2(GAS7):c.648C>G:p.Thr216=	coding	Benign
17	9943314	G	A	G9943314A	GAS7	NM_201433.2(GAS7):c.616-78C>T	noncoding	Benign
17	9943407	C	A	C9943407A	GAS7	NM_201433.2(GAS7):c.616-171G>T	noncoding	Benign
17	9946812	A	G	A9946812G	GAS7	NM_201433.2(GAS7):c.615+82T>C	noncoding	Benign
17	9947123	C	T	C9947123T	GAS7	NM_201433.2(GAS7):c.526-140G>A	noncoding	Benign
17	9947162	C	G	C9947162G	GAS7	NM_201433.2(GAS7):c.526-179G>C	noncoding	Benign
17	9959682	T	C	T9959682C	GAS7	NM_201433.2(GAS7):c.472-427A>G	noncoding	Benign
17	9969451	A	G	A9969451G	GAS7	NM_201433.2(GAS7):c.471+226T>C	noncoding	Benign
17	9969661	C	T	C9969661T	GAS7	NM_201433.2(GAS7):c.471+16G>A	noncoding	Benign
17	10392180	C	T	C10392180T	MYH8	NM_002472.3(MYH8):c.5569-203G>A	noncoding	Benign
17	10392303	C	T	C10392303T	MYH8	NM_002472.3(MYH8):c.5568+239G>A	noncoding	Benign
17	10394071	C	G	C10394071G	MYH8	NM_002472.3(MYH8):c.5166+178G>C	noncoding	Benign
17	10394984	T	C	T10394984C	MYH8	NM_002472.3(MYH8):c.4962+149A>G	noncoding	Benign
17	10397295	T	C	T10397295C	MYH8	NM_002472.3(MYH8):c.4179-309A>G	noncoding	Benign
17	10399369	G	A	G10399369A	MYH8	NM_002472.3(MYH8):c.3862+174C>T	noncoding	Benign
17	10399827	G	C	G10399827C	MYH8	NM_002472.3(MYH8):c.3736-158C>G	noncoding	Benign
17	10400506	C	T	C10400506T	MYH8	NM_002472.3(MYH8):c.3619G>A:p.Gly1207Arg	coding	Benign
17	10400833	T	C	T10400833C	MYH8	NM_002472.3(MYH8):c.3345+36A>G	noncoding	Benign
17	10404751	A	G	A10404751G	MYH8	NM_002472.3(MYH8):c.2433-166T>C	noncoding	Benign
17	10404767	G	A	G10404767A	MYH8	NM_002472.3(MYH8):c.2433-182C>T	noncoding	Benign
17	10406645	C	T	C10406645T	MYH8	NM_002472.3(MYH8):c.2171+45G>A	noncoding	Benign
17	10410828	C	G	C10410828G	MYH8	NM_002472.3(MYH8):c.1536G>C:p.Thr512=	coding	Benign
17	10411058	G	A	G10411058A	MYH8	NM_002472.3(MYH8):c.1417-111C>T	noncoding	Benign
17	10411078	C	T	C10411078T	MYH8	NM_002472.3(MYH8):c.1417-131G>A	noncoding	Benign
17	10412239	G	A	G10412239A	MYH8	NM_002472.3(MYH8):c.1416+131C>T	noncoding	Benign
17	10412958	C	T	C10412958T	MYH8	NM_002472.3(MYH8):c.1148-230G>A	noncoding	Benign
17	10412962	T	C	T10412962C	MYH8	NM_002472.3(MYH8):c.1148-234A>G	noncoding	Benign
17	10412963	G	A	G10412963A	MYH8	NM_002472.3(MYH8):c.1148-235C>T	noncoding	Benign
17	10413808	G	A	G10413808A	MYH8	NM_002472.3(MYH8):c.1147+94C>T	noncoding	Benign
17	10414514	A	G	A10414514G	MYH8	NM_002472.3(MYH8):c.806-30T>C	noncoding	Benign
17	10414525	A	G	A10414525G	MYH8	NM_002472.3(MYH8):c.806-41T>C	noncoding	Benign
17	10414623	A	G	A10414623G	MYH8	NM_002472.3(MYH8):c.806-139T>C	noncoding	Benign
17	10415831	A	G	A10415831G	MYH8	NM_002472.3(MYH8):c.512-123T>C	noncoding	Benign
17	10418726	C	G	C10418726G	MYH8	NM_002472.3(MYH8):c.430G>C:p.Ala144Pro	coding	Benign/Likely_benign
17	10445037	T	C	T10445037C	MYH4	NM_017533.2(MYH4):c.5405A>G:p.Asp1802Gly	coding	Benign
17	10460093	A	G	A10460093G	MYH4	NM_017533.2(MYH4):c.1275T>C:p.Asn425=	coding	Benign
17	10512523	A	G	A10512523G	MYH1	NM_005963.4(MYH1):c.1032T>C:p.Phe344=	coding	Benign
17	10521600	T	C	T10521600C	MYH2	NM_017534.6(MYH2):c.5674-168A>G	noncoding	Benign
17	10522899	A	T	A10522899T	MYH2	NM_017534.6(MYH2):c.5673+191T>A	noncoding	Benign
17	10522949	A	G	A10522949G	MYH2	NM_017534.6(MYH2):c.5673+141T>C	noncoding	Benign
17	10523026	C	T	C10523026T	MYH2	NM_017534.6(MYH2):c.5673+64G>A	noncoding	Benign
17	10523910	A	T	A10523910T	MYH2	NM_017534.6(MYH2):c.5176-26T>A	noncoding	Benign
17	10524249	C	T	C10524249T	MYH2	NM_017534.6(MYH2):c.5175+217G>A	noncoding	Benign
17	10524684	A	G	A10524684G	MYH2	NM_017534.6(MYH2):c.4972-15T>C	noncoding	Benign
17	10524918	G	A	G10524918A	MYH2	NM_017534.6(MYH2):c.4810C>T:p.Gln1604Ter	coding	Pathogenic
17	10525332	G	A	G10525332A	MYH2	NM_017534.6(MYH2):c.4554C>T:p.Leu1518=	coding	Benign
17	10525944	C	T	C10525944T	MYH2	NM_017534.6(MYH2):c.4188-68G>A	noncoding	Benign
17	10526324	G	A	G10526324A	MYH2	NM_017534.6(MYH2):c.4187+275C>T	noncoding	Benign
17	10526478	C	T	C10526478T	MYH2	NM_017534.6(MYH2):c.4187+121G>A	noncoding	Benign
17	10527366	G	A	G10527366A	MYH2	NM_017534.6(MYH2):c.3872-310C>T	noncoding	Benign
17	10527862	T	A	T10527862A	MYH2	NM_017534.6(MYH2):c.3757A>T:p.Lys1253Ter	coding	Pathogenic
17	10527958	A	G	A10527958G	MYH2	NM_017534.6(MYH2):c.3745-84T>C	noncoding	Benign
17	10528028	G	T	G10528028T	MYH2	NM_017534.6(MYH2):c.3745-154C>A	noncoding	Benign
17	10529662	C	A	C10529662A	MYH2	NM_017534.6(MYH2):c.3019G>T:p.Glu1007Ter	coding	Pathogenic
17	10531869	G	A	G10531869A	MYH2	NM_017534.6(MYH2):c.2461C>T:p.Gln821Ter	coding	Pathogenic
17	10532094	A	G	A10532094G	MYH2	NM_017534.6(MYH2):c.2442-206T>C	noncoding	Benign
17	10533683	G	A	G10533683A	MYH2	NM_017534.6(MYH2):c.2181-51C>T	noncoding	Benign
17	10533712	T	A	T10533712A	MYH2	NM_017534.6(MYH2):c.2181-80A>T	noncoding	Benign
17	10533888	G	C	G10533888C	MYH2	NM_017534.6(MYH2):c.2181-256C>G	noncoding	Benign
17	10535080	T	A	T10535080A	MYH2	NM_017534.6(MYH2):c.2173A>T:p.Lys725Ter	coding	Pathogenic
17	10536453	A	G	A10536453G	MYH2	NM_017534.6(MYH2):c.1974+77T>C	noncoding	Benign
17	10537063	C	T	C10537063T	MYH2	NM_017534.6(MYH2):c.1897+170G>A	noncoding	Benign
17	10539131	T	A	T10539131A	MYH2	NM_017534.6(MYH2):c.1416+74A>T	noncoding	Benign
17	10539660	T	C	T10539660C	MYH2	NM_017534.6(MYH2):c.1148-98A>G	noncoding	Benign
17	10540771	G	A	G10540771A	MYH2	NM_017534.6(MYH2):c.905-74C>T	noncoding	Benign
17	10543401	A	C	A10543401C	MYH2	NM_017534.6(MYH2):c.742-240T>G	noncoding	Benign
17	10543418	T	G	T10543418G	MYH2	NM_017534.6(MYH2):c.742-257A>C	noncoding	Benign
17	10543925	C	A	C10543925A	MYH2	NM_017534.6(MYH2):c.625G>T:p.Glu209Ter	coding	Pathogenic
17	10544125	G	A	G10544125A	MYH2	NM_017534.6(MYH2):c.508C>T:p.Arg170Ter	coding	Pathogenic
17	10545033	A	G	A10545033G	MYH2	NM_017534.6(MYH2):c.505+313T>C	noncoding	Benign
17	10545035	A	G	A10545035G	MYH2	NM_017534.6(MYH2):c.505+311T>C	noncoding	Benign
17	10545044	C	A	C10545044A	MYH2	NM_017534.6(MYH2):c.505+302G>T	noncoding	Benign
17	10547869	G	A	G10547869A	MYH2	NM_017534.6(MYH2):c.52C>T:p.Arg18Ter	coding	Pathogenic
17	10548157	C	T	C10548157T	MYH2	NM_017534.6(MYH2):c.-20-217G>A	noncoding	Benign
17	10548200	T	A	T10548200A	MYH2	NM_017534.6(MYH2):c.-20-260A>T	noncoding	Benign
17	10628350	G	T	G10628350T	MYH3	Single_allele	noncoding	Benign
17	10628455	C	T	C10628455T	MYH3	Single_allele	noncoding	Benign
17	10628892	C	G	C10628892G	MYH3	NM_002470.4(MYH3):c.5797-213G>C	noncoding	Benign
17	10629585	T	C	T10629585C	MYH3	NM_002470.4(MYH3):c.5796+12A>G	noncoding	Benign
17	10630081	G	T	G10630081T	MYH3	NM_002470.4(MYH3):c.5562+11C>A	noncoding	Benign
17	10630230	T	G	T10630230G	MYH3	NM_002470.4(MYH3):c.5458-34A>C	noncoding	Benign
17	10631533	G	A	G10631533A	MYH3	NM_002470.4(MYH3):c.5286+78C>T	noncoding	Benign
17	10631783	C	A	C10631783A	MYH3	NM_002470.4(MYH3):c.5160+30G>T	noncoding	Benign/Likely_benign
17	10632518	C	T	C10632518T	MYH3	NM_002470.4(MYH3):c.4914G>A:p.Ala1638=	coding	Benign
17	10632867	A	G	A10632867G	MYH3	NM_002470.4(MYH3):c.4648-83T>C	noncoding	Benign
17	10633507	G	A	G10633507A	MYH3	NM_002470.4(MYH3):c.4647+84C>T	noncoding	Benign
17	10633564	C	T	C10633564T	MYH3	NM_002470.4(MYH3):c.4647+27G>A	noncoding	Benign/Likely_benign
17	10633825	C	T	C10633825T	MYH3	NM_002470.4(MYH3):c.4523-110G>A	noncoding	Benign
17	10633848	T	C	T10633848C	MYH3	NM_002470.4(MYH3):c.4523-133A>G	noncoding	Benign
17	10635129	G	C	G10635129C	MYH3	NM_002470.4(MYH3):c.4173-106C>G	noncoding	Benign
17	10635428	G	A	G10635428A	MYH3	NM_002470.4(MYH3):c.4111C>T:p.Gln1371Ter	coding	Pathogenic
17	10635684	A	G	A10635684G	MYH3	NM_002470.4(MYH3):c.3975+51T>C	noncoding	Benign
17	10635717	C	T	C10635717T	MYH3	NM_002470.4(MYH3):c.3975+18G>A	noncoding	Benign
17	10635904	C	G	C10635904G	MYH3	NM_002470.4(MYH3):c.3857-51G>C	noncoding	Benign
17	10635950	C	G	C10635950G	MYH3	NM_002470.4(MYH3):c.3857-97G>C	noncoding	Benign
17	10637753	A	G	A10637753G	MYH3	NM_002470.4(MYH3):c.3856+56T>C	noncoding	Benign
17	10638028	C	A	C10638028A	MYH3	NM_002470.4(MYH3):c.3729+15G>T	noncoding	Benign
17	10638036	G	A	G10638036A	MYH3	NM_002470.4(MYH3):c.3729+7C>T	noncoding	Benign
17	10638448	G	A	G10638448A	MYH3	NM_002470.4(MYH3):c.3340-16C>T	noncoding	Benign
17	10638575	G	T	G10638575T	MYH3	NM_002470.4(MYH3):c.3340-143C>A	noncoding	Benign
17	10639866	A	G	A10639866G	MYH3	NM_002470.4(MYH3):c.2683-64T>C	noncoding	Benign
17	10639901	A	G	A10639901G	MYH3	NM_002470.4(MYH3):c.2682+95T>C	noncoding	Benign
17	10639915	C	T	C10639915T	MYH3	NM_002470.4(MYH3):c.2682+81G>A	noncoding	Benign
17	10639936	C	T	C10639936T	MYH3	NM_002470.4(MYH3):c.2682+60G>A	noncoding	Benign
17	10640177	A	G	A10640177G	MYH3	NM_002470.4(MYH3):c.2501T>C:p.Phe834Ser	coding	Pathogenic
17	10640543	T	C	T10640543C	MYH3	NM_002470.4(MYH3):c.2289+20A>G	noncoding	Benign
17	10640590	G	A	G10640590A	MYH3	NM_002470.4(MYH3):c.2262C>T:p.His754=	coding	Benign
17	10640776	A	G	A10640776G	MYH3	NM_002470.4(MYH3):c.2166-90T>C	noncoding	Benign
17	10640812	C	T	C10640812T	MYH3	NM_002470.4(MYH3):c.2166-126G>A	noncoding	Benign
17	10641147	C	G	C10641147G	MYH3	NM_002470.4(MYH3):c.2103G>C:p.Glu701Asp	coding	Pathogenic
17	10641287	G	T	G10641287T	MYH3	NM_002470.4(MYH3):c.2045C>A:p.Pro682Gln	coding	Pathogenic
17	10641495	G	T	G10641495T	MYH3	NM_002470.4(MYH3):c.1960-123C>A	noncoding	Benign
17	10642824	A	G	A10642824G	MYH3	NM_002470.4(MYH3):c.1581+2T>C	noncoding	Pathogenic
17	10642825	C	T	C10642825T	MYH3	NM_002470.4(MYH3):c.1581+1G>A	noncoding	Pathogenic/Likely_pathogenic
17	10643015	A	G	A10643015G	MYH3	NM_002470.4(MYH3):c.1411-19T>C	noncoding	Benign
17	10644411	C	T	C10644411T	MYH3	NM_002470.4(MYH3):c.1350G>A:p.Thr450=	coding	Benign/Likely_benign
17	10644567	G	A	G10644567A	MYH3	NM_002470.4(MYH3):c.1260+17C>T	noncoding	Benign
17	10644867	T	C	T10644867C	MYH3	NM_002470.4(MYH3):c.1142-165A>G	noncoding	Benign
17	10645746	T	A	T10645746A	MYH3	NM_002470.4(MYH3):c.1102A>T:p.Lys368Ter	coding	Pathogenic
17	10646235	C	A	C10646235A	MYH3	NM_002470.4(MYH3):c.899-203G>T	noncoding	Benign
17	10647669	T	C	T10647669C	MYH3	NM_002470.4(MYH3):c.736-243A>G	noncoding	Benign
17	10648311	C	T	C10648311T	MYH3	NM_002470.4(MYH3):c.735+246G>A	noncoding	Benign
17	10648517	G	A	G10648517A	MYH3	NM_002470.4(MYH3):c.735+40C>T	noncoding	Benign
17	10648541	C	T	C10648541T	MYH3	NM_002470.4(MYH3):c.735+16G>A	noncoding	Benign
17	10649305	C	T	C10649305T	MYH3	NM_002470.4(MYH3):c.642+272G>A	noncoding	Benign
17	10649880	G	C	G10649880C	MYH3	NM_002470.4(MYH3):c.534-195C>G	noncoding	Benign
17	10649947	T	C	T10649947C	MYH3	NM_002470.4(MYH3):c.534-262A>G	noncoding	Benign
17	10649992	G	A	G10649992A	MYH3	NM_002470.4(MYH3):c.534-307C>T	noncoding	Benign
17	10649998	A	G	A10649998G	MYH3	NM_002470.4(MYH3):c.534-313T>C	noncoding	Benign
17	10650620	A	G	A10650620G	MYH3	NM_002470.4(MYH3):c.506-219T>C	noncoding	Benign
17	10651460	G	A	G10651460A	MYH3	NM_002470.4(MYH3):c.505+52C>T	noncoding	Benign
17	10651503	G	A	G10651503A	MYH3	NM_002470.4(MYH3):c.505+9C>T	noncoding	Benign
17	10651704	T	C	T10651704C	MYH3	NM_002470.4(MYH3):c.349-36A>G	noncoding	Benign/Likely_benign
17	10652209	C	T	C10652209T	MYH3	NM_002470.4(MYH3):c.348+211G>A	noncoding	Benign
17	10652285	G	A	G10652285A	MYH3	NM_002470.4(MYH3):c.348+135C>T	noncoding	Benign
17	10652465	G	A	G10652465A	MYH3	NM_002470.4(MYH3):c.303C>T:p.Ala101=	coding	Benign
17	10652778	C	T	C10652778T	MYH3	NM_002470.4(MYH3):c.205-215G>A	noncoding	Benign
17	10652779	A	G	A10652779G	MYH3	NM_002470.4(MYH3):c.205-216T>C	noncoding	Benign
17	10656022	A	G	A10656022G	MYH3	NM_002470.4(MYH3):c.-9+68T>C	noncoding	Benign
17	10656255	A	G	A10656255G	MYH3	NM_002470.4(MYH3):c.-67-107T>C	noncoding	Benign
17	10681403	C	T	C10681403T	SCO1	NM_004589.4(SCO1):c.772-150G>A	noncoding	Benign
17	10686622	T	C	T10686622C	SCO1	NM_004589.4(SCO1):c.771+105A>G	noncoding	Benign
17	10687126	G	A	G10687126A	SCO1	NM_004589.4(SCO1):c.656-284C>T	noncoding	Benign
17	10687146	C	G	C10687146G	SCO1	NM_004589.4(SCO1):c.656-304G>C	noncoding	Benign
17	10691740	C	T	C10691740T	SCO1	NM_004589.4(SCO1):c.655+132G>A	noncoding	Benign
17	10692071	A	G	A10692071G	SCO1	NM_004589.4(SCO1):c.563-107T>C	noncoding	Benign
17	10692074	G	A	G10692074A	SCO1	NM_004589.4(SCO1):c.563-110C>T	noncoding	Benign
17	10692081	G	A	G10692081A	SCO1	NM_004589.4(SCO1):c.563-117C>T	noncoding	Benign
17	10692105	G	A	G10692105A	SCO1	NM_004589.4(SCO1):c.563-141C>T	noncoding	Benign
17	10693216	A	G	A10693216G	SCO1	NM_004589.4(SCO1):c.365-255T>C	noncoding	Benign
17	10693261	T	C	T10693261C	SCO1	NM_004589.4(SCO1):c.365-300A>G	noncoding	Benign
17	10695977	A	C	A10695977C	SCO1	NM_004589.4(SCO1):c.274-146T>G	noncoding	Benign
17	10697578	C	A	C10697578A	SCO1	NM_004589.3(SCO1):c.-71G>T	noncoding	Benign/Likely_benign
17	10697598	G	A	G10697598A	SCO1	NM_020233.5(ADPRM):c.-87G>A	noncoding	Benign
17	10697654	G	A	G10697654A	SCO1	NM_020233.5(ADPRM):c.-31G>A	noncoding	Benign
17	10697743	G	C	G10697743C	SCO1	NM_020233.5(ADPRM):c.-18+76G>C	noncoding	Benign
17	11598413	C	A	C11598413A	DNAH9	Single_allele	noncoding	Benign
17	11598678	G	A	G11598678A	DNAH9	NM_001372.4(DNAH9):c.180G>A:p.Leu60=	coding	Benign
17	11598706	C	T	C11598706T	DNAH9	NM_001372.4(DNAH9):c.208C>T:p.Pro70Ser	coding	Benign
17	11598759	G	A	G11598759A	DNAH9	NM_001372.4(DNAH9):c.261G>A:p.Leu87=	coding	Benign
17	11598804	T	C	T11598804C	DNAH9	NM_001372.4(DNAH9):c.306T>C:p.Phe102=	coding	Benign
17	11598807	C	A	C11598807A	DNAH9	NM_001372.4(DNAH9):c.309C>A:p.Phe103Leu	coding	Benign
17	11598942	G	C	G11598942C	DNAH9	NM_001372.4(DNAH9):c.417+27G>C	noncoding	Benign
17	11599086	G	C	G11599086C	DNAH9	NM_001372.4(DNAH9):c.417+171G>C	noncoding	Benign
17	11608094	C	T	C11608094T	DNAH9	NM_001372.4(DNAH9):c.418-35C>T	noncoding	Benign
17	11608095	A	G	A11608095G	DNAH9	NM_001372.4(DNAH9):c.418-34A>G	noncoding	Benign
17	11608115	C	T	C11608115T	DNAH9	NM_001372.4(DNAH9):c.418-14C>T	noncoding	Benign
17	11608163	G	A	G11608163A	DNAH9	NM_001372.4(DNAH9):c.452G>A:p.Arg151His	coding	Benign
17	11610344	C	T	C11610344T	DNAH9	NM_001372.4(DNAH9):c.615-52C>T	noncoding	Benign
17	11610568	C	G	C11610568G	DNAH9	NM_001372.4(DNAH9):c.773+14C>G	noncoding	Benign
17	11610710	G	A	G11610710A	DNAH9	NM_001372.4(DNAH9):c.773+156G>A	noncoding	Benign
17	11611416	C	T	C11611416T	DNAH9	NM_001372.4(DNAH9):c.774-234C>T	noncoding	Benign
17	11611776	T	G	T11611776G	DNAH9	NM_001372.4(DNAH9):c.900T>G:p.Val300=	coding	Benign
17	11611854	G	C	G11611854C	DNAH9	NM_001372.4(DNAH9):c.904+74G>C	noncoding	Benign
17	11611891	G	A	G11611891A	DNAH9	NM_001372.4(DNAH9):c.904+111G>A	noncoding	Benign
17	11617516	C	T	C11617516T	DNAH9	NM_001372.4(DNAH9):c.1010C>T:p.Pro337Leu	coding	Benign
17	11619447	G	A	G11619447A	DNAH9	NM_001372.4(DNAH9):c.1117-101G>A	noncoding	Benign
17	11619729	C	G	C11619729G	DNAH9	NM_001372.4(DNAH9):c.1298C>G:p.Ser433Cys	coding	Benign
17	11619765	A	G	A11619765G	DNAH9	NM_001372.4(DNAH9):c.1334A>G:p.Gln445Arg	coding	Benign
17	11629398	T	C	T11629398C	DNAH9	NM_001372.4(DNAH9):c.1351-19T>C	noncoding	Benign
17	11632346	A	G	A11632346G	DNAH9	NM_001372.4(DNAH9):c.1519-241A>G	noncoding	Benign
17	11632732	G	A	G11632732A	DNAH9	NM_001372.4(DNAH9):c.1635+29G>A	noncoding	Benign
17	11632776	A	G	A11632776G	DNAH9	NM_001372.4(DNAH9):c.1635+73A>G	noncoding	Benign
17	11632780	T	G	T11632780G	DNAH9	NM_001372.4(DNAH9):c.1635+77T>G	noncoding	Benign
17	11632785	C	A	C11632785A	DNAH9	NM_001372.4(DNAH9):c.1635+82C>A	noncoding	Benign
17	11632888	G	A	G11632888A	DNAH9	NM_001372.4(DNAH9):c.1635+185G>A	noncoding	Benign
17	11636702	G	T	G11636702T	DNAH9	NM_001372.4(DNAH9):c.1704G>T:p.Leu568=	coding	Benign
17	11636745	A	G	A11636745G	DNAH9	NM_001372.4(DNAH9):c.1747A>G:p.Met583Val	coding	Benign
17	11636762	C	T	C11636762T	DNAH9	NM_001372.4(DNAH9):c.1764C>T:p.His588=	coding	Benign
17	11640140	G	T	G11640140T	DNAH9	NM_001372.4(DNAH9):c.1787-130G>T	noncoding	Benign
17	11640203	T	C	T11640203C	DNAH9	NM_001372.4(DNAH9):c.1787-67T>C	noncoding	Benign
17	11640271	G	A	G11640271A	DNAH9	NM_001372.4(DNAH9):c.1788G>A:p.Gly596=	coding	Benign
17	11640371	C	T	C11640371T	DNAH9	NM_001372.4(DNAH9):c.1888C>T:p.Arg630Cys	coding	Benign
17	11647023	T	C	T11647023C	DNAH9	NM_001372.4(DNAH9):c.1971-49T>C	noncoding	Benign
17	11647038	C	T	C11647038T	DNAH9	NM_001372.4(DNAH9):c.1971-34C>T	noncoding	Benign
17	11650868	G	C	G11650868C	DNAH9	NM_001372.4(DNAH9):c.2098-201G>C	noncoding	Benign
17	11651266	G	A	G11651266A	DNAH9	NM_001372.4(DNAH9):c.2295G>A:p.Leu765=	coding	Benign
17	11651336	C	T	C11651336T	DNAH9	NM_001372.4(DNAH9):c.2353+12C>T	noncoding	Benign
17	11651541	T	C	T11651541C	DNAH9	NM_001372.4(DNAH9):c.2353+217T>C	noncoding	Benign
17	11652673	T	C	T11652673C	DNAH9	NM_001372.4(DNAH9):c.2354-88T>C	noncoding	Benign
17	11652931	C	T	C11652931T	DNAH9	NM_001372.4(DNAH9):c.2524C>T:p.Arg842Trp	coding	Benign
17	11653156	G	A	G11653156A	DNAH9	NM_001372.4(DNAH9):c.2595+154G>A	noncoding	Benign
17	11664817	C	T	C11664817T	DNAH9	NM_001372.4(DNAH9):c.2596-16C>T	noncoding	Benign
17	11664985	G	A	G11664985A	DNAH9	NM_001372.4(DNAH9):c.2731+17G>A	noncoding	Benign
17	11669352	G	A	G11669352A	DNAH9	NM_001372.4(DNAH9):c.2929-18G>A	noncoding	Benign
17	11669359	C	T	C11669359T	DNAH9	NM_001372.4(DNAH9):c.2929-11C>T	noncoding	Benign
17	11669381	C	T	C11669381T	DNAH9	NM_001372.4(DNAH9):c.2940C>T:p.Asp980=	coding	Benign
17	11669444	C	A	C11669444A	DNAH9	NM_001372.4(DNAH9):c.3003C>A:p.Gly1001=	coding	Benign
17	11669492	T	A	T11669492A	DNAH9	NM_001372.4(DNAH9):c.3051T>A:p.Tyr1017Ter	coding	Pathogenic
17	11669567	C	T	C11669567T	DNAH9	NM_001372.4(DNAH9):c.3126C>T:p.Asp1042=	coding	Benign
17	11669600	C	T	C11669600T	DNAH9	NM_001372.4(DNAH9):c.3159C>T:p.Pro1053=	coding	Benign
17	11679511	G	A	G11679511A	DNAH9	NM_001372.4(DNAH9):c.3354-246G>A	noncoding	Benign
17	11679537	A	G	A11679537G	DNAH9	NM_001372.4(DNAH9):c.3354-220A>G	noncoding	Benign
17	11679822	G	A	G11679822A	DNAH9	NM_001372.4(DNAH9):c.3419G>A:p.Gly1140Glu	coding	Benign
17	11680509	A	T	A11680509T	DNAH9	NM_001372.4(DNAH9):c.3577-214A>T	noncoding	Benign
17	11680851	G	A	G11680851A	DNAH9	NM_001372.4(DNAH9):c.3705G>A:p.Gln1235=	coding	Benign
17	11689446	G	A	G11689446A	DNAH9	NM_001372.4(DNAH9):c.3744-120G>A	noncoding	Benign
17	11689920	G	A	G11689920A	DNAH9	NM_001372.4(DNAH9):c.4098G>A:p.Thr1366=	coding	Benign
17	11690040	G	A	G11690040A	DNAH9	NM_001372.4(DNAH9):c.4218G>A:p.Ala1406=	coding	Benign
17	11690056	C	T	C11690056T	DNAH9	NM_001372.4(DNAH9):c.4234C>T:p.Gln1412Ter	coding	Pathogenic
17	11690117	G	A	G11690117A	DNAH9	NM_001372.4(DNAH9):c.4295G>A:p.Gly1432Asp	coding	Benign
17	11690199	C	T	C11690199T	DNAH9	NM_001372.4(DNAH9):c.4377C>T:p.Val1459=	coding	Benign
17	11690202	C	T	C11690202T	DNAH9	NM_001372.4(DNAH9):c.4380C>T:p.Pro1460=	coding	Benign
17	11690254	C	T	C11690254T	DNAH9	NM_001372.4(DNAH9):c.4432C>T:p.Gln1478Ter	coding	Pathogenic
17	11690372	G	A	G11690372A	DNAH9	NM_001372.4(DNAH9):c.4550G>A:p.Arg1517Gln	coding	Benign
17	11690426	A	G	A11690426G	DNAH9	NM_001372.4(DNAH9):c.4604A>G:p.Gln1535Arg	coding	Benign
17	11690504	C	A	C11690504A	DNAH9	NM_001372.4(DNAH9):c.4614+68C>A	noncoding	Benign
17	11693922	G	T	G11693922T	DNAH9	NM_001372.4(DNAH9):c.4669G>T:p.Ala1557Ser	coding	Benign
17	11693972	T	G	T11693972G	DNAH9	NM_001372.4(DNAH9):c.4719T>G:p.Tyr1573Ter	coding	Pathogenic
17	11694009	G	A	G11694009A	DNAH9	NM_001372.4(DNAH9):c.4745+11G>A	noncoding	Benign
17	11694116	C	T	C11694116T	DNAH9	NM_001372.4(DNAH9):c.4745+118C>T	noncoding	Benign
17	11694303	T	A	T11694303A	DNAH9	NM_001372.4(DNAH9):c.4746-18T>A	noncoding	Benign
17	11699716	G	A	G11699716A	DNAH9	NM_001372.4(DNAH9):c.4873-15G>A	noncoding	Benign
17	11699794	A	G	A11699794G	DNAH9	NM_001372.4(DNAH9):c.4936A>G:p.Ser1646Gly	coding	Benign
17	11699957	A	C	A11699957C	DNAH9	NM_001372.4(DNAH9):c.5025+74A>C	noncoding	Benign
17	11699983	G	T	G11699983T	DNAH9	NM_001372.4(DNAH9):c.5025+100G>T	noncoding	Benign
17	11701011	A	G	A11701011G	DNAH9	NM_001372.4(DNAH9):c.5026-111A>G	noncoding	Benign
17	11701161	G	T	G11701161T	DNAH9	NM_001372.4(DNAH9):c.5065G>T:p.Ala1689Ser	coding	Benign
17	11701214	G	A	G11701214A	DNAH9	NM_001372.4(DNAH9):c.5118G>A:p.Pro1706=	coding	Benign
17	11701281	T	A	T11701281A	DNAH9	NM_001372.4(DNAH9):c.5151+34T>A	noncoding	Benign
17	11704028	T	C	T11704028C	DNAH9	NM_001372.4(DNAH9):c.5152-175T>C	noncoding	Benign
17	11704317	C	T	C11704317T	DNAH9	NM_001372.4(DNAH9):c.5266C>T:p.Gln1756Ter	coding	Pathogenic
17	11704423	C	T	C11704423T	DNAH9	NM_001372.4(DNAH9):c.5372C>T:p.Ala1791Val	coding	Benign
17	11719143	C	T	C11719143T	DNAH9	NM_001372.4(DNAH9):c.5553-191C>T	noncoding	Benign
17	11719177	A	G	A11719177G	DNAH9	NM_001372.4(DNAH9):c.5553-157A>G	noncoding	Benign
17	11719234	T	G	T11719234G	DNAH9	NM_001372.4(DNAH9):c.5553-100T>G	noncoding	Benign
17	11719385	C	T	C11719385T	DNAH9	NM_001372.4(DNAH9):c.5604C>T:p.Pro1868=	coding	Benign
17	11719412	C	T	C11719412T	DNAH9	NM_001372.4(DNAH9):c.5631C>T:p.Thr1877=	coding	Benign
17	11719472	G	A	G11719472A	DNAH9	NM_001372.4(DNAH9):c.5691G>A:p.Ser1897=	coding	Benign
17	11719520	G	T	G11719520T	DNAH9	NM_001372.4(DNAH9):c.5709+30G>T	noncoding	Benign
17	11719636	G	A	G11719636A	DNAH9	NM_001372.4(DNAH9):c.5709+146G>A	noncoding	Benign
17	11719661	T	G	T11719661G	DNAH9	NM_001372.4(DNAH9):c.5709+171T>G	noncoding	Benign
17	11738810	C	T	C11738810T	DNAH9	NM_001372.4(DNAH9):c.5815-70C>T	noncoding	Benign
17	11738858	C	T	C11738858T	DNAH9	NM_001372.4(DNAH9):c.5815-22C>T	noncoding	Benign
17	11738914	A	G	A11738914G	DNAH9	NM_001372.4(DNAH9):c.5849A>G:p.Lys1950Arg	coding	Benign
17	11739026	G	A	G11739026A	DNAH9	NM_001372.4(DNAH9):c.5961G>A:p.Lys1987=	coding	Benign
17	11742384	A	G	A11742384G	DNAH9	NM_001372.4(DNAH9):c.6111+71A>G	noncoding	Benign
17	11742469	T	A	T11742469A	DNAH9	NM_001372.4(DNAH9):c.6111+156T>A	noncoding	Benign
17	11744738	A	T	A11744738T	DNAH9	NM_001372.4(DNAH9):c.6112-59A>T	noncoding	Benign
17	11744805	C	T	C11744805T	DNAH9	NM_001372.4(DNAH9):c.6120C>T:p.Tyr2040=	coding	Benign
17	11744944	A	G	A11744944G	DNAH9	NM_001372.4(DNAH9):c.6259A>G:p.Met2087Val	coding	Benign
17	11744982	C	T	C11744982T	DNAH9	NM_001372.4(DNAH9):c.6297C>T:p.Pro2099=	coding	Benign
17	11745018	C	T	C11745018T	DNAH9	NM_001372.4(DNAH9):c.6333C>T:p.Phe2111=	coding	Benign
17	11745062	C	T	C11745062T	DNAH9	NM_001372.4(DNAH9):c.6377C>T:p.Ala2126Val	coding	Benign
17	11745127	T	C	T11745127C	DNAH9	NM_001372.4(DNAH9):c.6399+43T>C	noncoding	Benign
17	11745215	A	G	A11745215G	DNAH9	NM_001372.4(DNAH9):c.6399+131A>G	noncoding	Benign
17	11745274	A	G	A11745274G	DNAH9	NM_001372.4(DNAH9):c.6399+190A>G	noncoding	Benign
17	11747641	G	A	G11747641A	DNAH9	NM_001372.4(DNAH9):c.6485G>A:p.Arg2162Lys	coding	Benign
17	11747822	C	T	C11747822T	DNAH9	NM_001372.4(DNAH9):c.6610+56C>T	noncoding	Benign
17	11747900	A	G	A11747900G	DNAH9	NM_001372.4(DNAH9):c.6610+134A>G	noncoding	Benign
17	11753148	A	G	A11753148G	DNAH9	NM_001372.4(DNAH9):c.6738+188A>G	noncoding	Benign
17	11756639	C	T	C11756639T	DNAH9	NM_001372.4(DNAH9):c.6810C>T:p.His2270=	coding	Benign
17	11756841	G	A	G11756841A	DNAH9	NM_001372.4(DNAH9):c.6847+165G>A	noncoding	Benign
17	11757405	G	T	G11757405T	DNAH9	NM_001372.4(DNAH9):c.6848-140G>T	noncoding	Benign
17	11757452	T	C	T11757452C	DNAH9	NM_001372.4(DNAH9):c.6848-93T>C	noncoding	Benign
17	11763269	G	A	G11763269A	DNAH9	NM_001372.4(DNAH9):c.6996-171G>A	noncoding	Benign
17	11763357	T	C	T11763357C	DNAH9	NM_001372.4(DNAH9):c.6996-83T>C	noncoding	Benign
17	11763815	G	A	G11763815A	DNAH9	NM_001372.4(DNAH9):c.7170+201G>A	noncoding	Benign
17	11768596	G	C	G11768596C	DNAH9	NM_001372.4(DNAH9):c.7314G>C:p.Gln2438His	coding	Benign
17	11768761	T	C	T11768761C	DNAH9	NM_001372.4(DNAH9):c.7344+135T>C	noncoding	Benign
17	11769183	C	T	C11769183T	DNAH9	NM_001372.4(DNAH9):c.7406C>T:p.Ala2469Val	coding	Benign
17	11769192	G	A	G11769192A	DNAH9	NM_001372.4(DNAH9):c.7415G>A:p.Arg2472Gln	coding	Benign
17	11780872	A	G	A11780872G	DNAH9	NM_001372.4(DNAH9):c.7553-137A>G	noncoding	Benign
17	11780890	G	A	G11780890A	DNAH9	NM_001372.4(DNAH9):c.7553-119G>A	noncoding	Benign
17	11781254	G	C	G11781254C	DNAH9	NM_001372.4(DNAH9):c.7718+80G>C	noncoding	Benign
17	11783468	G	T	G11783468T	DNAH9	NM_001372.4(DNAH9):c.7719-178G>T	noncoding	Benign
17	11783876	C	G	C11783876G	DNAH9	NM_001372.4(DNAH9):c.7821+128C>G	noncoding	Benign
17	11784204	G	T	G11784204T	DNAH9	NM_001372.4(DNAH9):c.7822-96G>T	noncoding	Benign
17	11784359	C	T	C11784359T	DNAH9	NM_001372.4(DNAH9):c.7881C>T:p.Tyr2627=	coding	Benign
17	11784404	G	A	G11784404A	DNAH9	NM_001372.4(DNAH9):c.7926G>A:p.Ala2642=	coding	Benign
17	11784495	T	C	T11784495C	DNAH9	NM_001372.4(DNAH9):c.8017T>C:p.Phe2673Leu	coding	Benign
17	11784557	G	A	G11784557A	DNAH9	NM_001372.4(DNAH9):c.8061+18G>A	noncoding	Benign
17	11784617	C	T	C11784617T	DNAH9	NM_001372.4(DNAH9):c.8061+78C>T	noncoding	Benign
17	11793679	A	G	A11793679G	DNAH9	NM_001372.4(DNAH9):c.8223+15A>G	noncoding	Benign
17	11797787	G	A	G11797787A	DNAH9	NM_001372.4(DNAH9):c.8414G>A:p.Arg2805His	coding	Benign
17	11797907	C	T	C11797907T	DNAH9	NM_001372.4(DNAH9):c.8420+114C>T	noncoding	Benign
17	11821927	C	T	C11821927T	DNAH9	NM_001372.4(DNAH9):c.8715C>T:p.Ile2905=	coding	Benign
17	11822020	C	T	C11822020T	DNAH9	NM_001372.4(DNAH9):c.8808C>T:p.Asn2936=	coding	Benign
17	11822428	G	A	G11822428A	DNAH9	NM_001372.4(DNAH9):c.8851-10G>A	noncoding	Benign
17	11822469	A	G	A11822469G	DNAH9	NM_001372.4(DNAH9):c.8882A>G:p.Lys2961Arg	coding	Benign
17	11822491	G	T	G11822491T	DNAH9	NM_001372.4(DNAH9):c.8904G>T:p.Lys2968Asn	coding	Benign
17	11822579	C	T	C11822579T	DNAH9	NM_001372.4(DNAH9):c.8992C>T:p.Gln2998Ter	coding	Pathogenic
17	11822854	C	T	C11822854T	DNAH9	NM_001372.4(DNAH9):c.9066C>T:p.Val3022=	coding	Benign
17	11823118	A	G	A11823118G	DNAH9	NM_001372.4(DNAH9):c.9246+84A>G	noncoding	Benign
17	11834435	A	C	A11834435C	DNAH9	NM_001372.4(DNAH9):c.9247-203A>C	noncoding	Benign
17	11834578	C	T	C11834578T	DNAH9	NM_001372.4(DNAH9):c.9247-60C>T	noncoding	Benign
17	11834582	T	G	T11834582G	DNAH9	NM_001372.4(DNAH9):c.9247-56T>G	noncoding	Benign
17	11834621	G	A	G11834621A	DNAH9	NM_001372.4(DNAH9):c.9247-17G>A	noncoding	Benign
17	11834910	G	A	G11834910A	DNAH9	NM_001372.4(DNAH9):c.9507+12G>A	noncoding	Benign
17	11834947	C	T	C11834947T	DNAH9	NM_001372.4(DNAH9):c.9507+49C>T	noncoding	Benign
17	11834997	A	G	A11834997G	DNAH9	NM_001372.4(DNAH9):c.9507+99A>G	noncoding	Benign
17	11835015	A	G	A11835015G	DNAH9	NM_001372.4(DNAH9):c.9507+117A>G	noncoding	Benign
17	11854123	G	T	G11854123T	DNAH9	NM_001372.4(DNAH9):c.9628G>T:p.Ala3210Ser	coding	Benign
17	11854183	A	T	A11854183T	DNAH9	NM_001372.4(DNAH9):c.9688A>T:p.Lys3230Ter	coding	Pathogenic
17	11868968	C	T	C11868968T	DNAH9	NM_001372.4(DNAH9):c.9934-166C>T	noncoding	Benign
17	11869273	G	A	G11869273A	DNAH9	NM_001372.4(DNAH9):c.10053+20G>A	noncoding	Benign
17	11871614	C	T	C11871614T	DNAH9	NM_001372.4(DNAH9):c.10070C>T:p.Ser3357Phe	coding	Benign
17	11871787	G	C	G11871787C	DNAH9	NM_001372.4(DNAH9):c.10242+1G>C	coding	Pathogenic
17	11871902	C	G	C11871902G	DNAH9	NM_001372.4(DNAH9):c.10242+116C>G	noncoding	Benign
17	11874839	G	A	G11874839A	DNAH9	NM_001372.4(DNAH9):c.10243-110G>A	noncoding	Benign
17	11874923	G	A	G11874923A	DNAH9	NM_001372.4(DNAH9):c.10243-26G>A	noncoding	Benign
17	11874956	T	G	T11874956G	DNAH9	NM_001372.4(DNAH9):c.10250T>G:p.Ile3417Ser	coding	Benign
17	11875128	A	G	A11875128G	DNAH9	NM_001372.4(DNAH9):c.10422A>G:p.Lys3474=	coding	Benign
17	11875146	T	A	T11875146A	DNAH9	NM_001372.4(DNAH9):c.10440T>A:p.Tyr3480Ter	coding	Pathogenic
17	11875166	C	T	C11875166T	DNAH9	NM_001372.4(DNAH9):c.10460C>T:p.Thr3487Met	coding	Benign
17	11880154	C	A	C11880154A	DNAH9	NM_001372.4(DNAH9):c.10555C>A:p.Pro3519Thr	coding	Benign
17	11880163	G	A	G11880163A	DNAH9	NM_001372.4(DNAH9):c.10564G>A:p.Gly3522Arg	coding	Benign
17	11881506	T	C	T11881506C	DNAH9	NM_001372.4(DNAH9):c.10806+93T>C	noncoding	Benign
17	11881512	T	C	T11881512C	DNAH9	NM_001372.4(DNAH9):c.10806+99T>C	noncoding	Benign
17	11883510	G	A	G11883510A	DNAH9	NM_001372.4(DNAH9):c.10807-76G>A	noncoding	Benign
17	11883624	C	T	C11883624T	DNAH9	NM_001372.4(DNAH9):c.10845C>T:p.Thr3615=	coding	Benign
17	11883632	C	T	C11883632T	DNAH9	NM_001372.4(DNAH9):c.10853C>T:p.Thr3618Met	coding	Benign
17	11883633	G	A	G11883633A	DNAH9	NM_001372.4(DNAH9):c.10854G>A:p.Thr3618=	coding	Benign
17	11883666	C	T	C11883666T	DNAH9	NM_001372.4(DNAH9):c.10887C>T:p.Ser3629=	coding	Benign
17	11883691	A	G	A11883691G	DNAH9	NM_001372.4(DNAH9):c.10912A>G:p.Thr3638Ala	coding	Benign
17	11886844	C	A	C11886844A	DNAH9	NM_001372.4(DNAH9):c.10991C>A:p.Thr3664Asn	coding	Benign
17	11886867	C	A	C11886867A	DNAH9	NM_001372.4(DNAH9):c.11014C>A:p.Arg3672=	coding	Benign
17	11886910	A	G	A11886910G	DNAH9	NM_001372.4(DNAH9):c.11057A>G:p.Tyr3686Cys	coding	Benign
17	11886975	A	G	A11886975G	DNAH9	NM_001372.4(DNAH9):c.11112+10A>G	noncoding	Benign
17	11891789	G	A	G11891789A	DNAH9	NM_001372.4(DNAH9):c.11125G>A:p.Val3709Ile	coding	Benign
17	11894334	A	T	A11894334T	DNAH9	NM_001372.4(DNAH9):c.11284-40A>T	noncoding	Benign
17	11894354	A	G	A11894354G	DNAH9	NM_001372.4(DNAH9):c.11284-20A>G	noncoding	Benign
17	11894431	C	T	C11894431T	DNAH9	NM_001372.4(DNAH9):c.11341C>T:p.Pro3781Ser	coding	Benign
17	11902926	T	A	T11902926A	DNAH9	NM_001372.4(DNAH9):c.11600+14T>A	noncoding	Benign
17	11902949	T	C	T11902949C	DNAH9	NM_001372.4(DNAH9):c.11600+37T>C	noncoding	Benign
17	11905821	G	A	G11905821A	DNAH9	NM_001372.4(DNAH9):c.11749+12G>A	noncoding	Benign
17	11923632	C	G	C11923632G	DNAH9	NM_001372.4(DNAH9):c.11750-182C>G	noncoding	Benign
17	11923635	T	C	T11923635C	DNAH9	NM_001372.4(DNAH9):c.11750-179T>C	noncoding	Benign
17	11923795	G	A	G11923795A	DNAH9	NM_001372.4(DNAH9):c.11750-19G>A	noncoding	Benign
17	11923796	C	A	C11923796A	DNAH9	NM_001372.4(DNAH9):c.11750-18C>A	noncoding	Benign
17	11923799	C	T	C11923799T	DNAH9	NM_001372.4(DNAH9):c.11750-15C>T	noncoding	Benign
17	11924036	T	C	T11924036C	DNAH9	NM_001372.4(DNAH9):c.11877+95T>C	noncoding	Benign
17	11924051	T	G	T11924051G	DNAH9	NM_001372.4(DNAH9):c.11877+110T>G	noncoding	Benign
17	11929850	C	T	C11929850T	DNAH9	NM_001372.4(DNAH9):c.11878-16C>T	noncoding	Benign
17	11929909	A	T	A11929909T	DNAH9	NM_001372.4(DNAH9):c.11921A>T:p.Lys3974Met	coding	Benign
17	11931980	T	C	T11931980C	DNAH9	NM_001372.4(DNAH9):c.12106-34T>C	noncoding	Benign
17	11933844	T	C	T11933844C	DNAH9	NM_001372.4(DNAH9):c.12298-36T>C	noncoding	Benign
17	11937211	A	C	A11937211C	DNAH9	NM_001372.4(DNAH9):c.12490-141A>C	noncoding	Benign
17	11937299	G	A	G11937299A	DNAH9	NM_001372.4(DNAH9):c.12490-53G>A	noncoding	Benign
17	11937483	C	T	C11937483T	DNAH9	NM_001372.4(DNAH9):c.12621C>T:p.Ser4207=	coding	Benign
17	11942484	A	G	A11942484G	DNAH9	NM_001372.4(DNAH9):c.12842A>G:p.Lys4281Arg	coding	Benign
17	11942639	C	A	C11942639A	DNAH9	NM_001372.4(DNAH9):c.12843+154C>A	noncoding	Benign
17	11961793	G	A	G11961793A	DNAH9	NM_001372.4(DNAH9):c.12844-74G>A	noncoding	Benign
17	11962473	G	C	G11962473C	DNAH9	NM_001372.4(DNAH9):c.13233+217G>C	noncoding	Benign
17	11969393	C	T	C11969393T	DNAH9	NM_001372.4(DNAH9):c.13327C>T:p.Arg4443Cys	coding	Benign
17	11969450	T	C	T11969450C	DNAH9	NM_001372.4(DNAH9):c.13384T>C:p.Trp4462Arg	coding	Benign
17	12665560	A	T	A12665560T	MYOCD	Single_allele	noncoding	Benign
17	12665754	T	C	T12665754C	MYOCD	Single_allele	noncoding	Benign
17	12666125	G	A	G12666125A	MYOCD	NM_001146312.3(MYOCD):c.-64G>A	noncoding	Benign
17	12704954	T	C	T12704954C	MYOCD	NM_001146312.3(MYOCD):c.56-174T>C	coding	Benign
17	12715363	G	C	G12715363C	MYOCD	NM_001146312.3(MYOCD):c.122-156G>C	noncoding	Benign
17	12717444	A	G	A12717444G	MYOCD	NM_001146312.3(MYOCD):c.253+23A>G	noncoding	Benign
17	12717580	G	A	G12717580A	MYOCD	NM_001146312.3(MYOCD):c.253+159G>A	noncoding	Benign
17	12722609	G	A	G12722609A	MYOCD	NM_001146312.3(MYOCD):c.254-238G>A	noncoding	Benign
17	12735977	T	C	T12735977C	MYOCD	NM_001146312.3(MYOCD):c.416-184T>C	noncoding	Benign
17	12739573	T	C	T12739573C	MYOCD	NM_001146312.3(MYOCD):c.717+245T>C	noncoding	Benign
17	12744091	A	G	A12744091G	MYOCD	NM_001146312.3(MYOCD):c.718-92A>G	noncoding	Benign
17	12744173	T	C	T12744173C	MYOCD	NM_001146312.3(MYOCD):c.718-10T>C	noncoding	Benign
17	12752540	A	G	A12752540G	MYOCD	NM_001146312.3(MYOCD):c.1252A>G:p.Ile418Val	coding	Benign
17	12752794	T	C	T12752794C	MYOCD	NM_001146312.3(MYOCD):c.1506T>C:p.Asn502=	coding	Benign
17	12753100	T	C	T12753100C	MYOCD	NM_001146312.3(MYOCD):c.1812T>C:p.Ala604=	coding	Benign
17	12753229	G	C	G12753229C	MYOCD	NM_001146312.3(MYOCD):c.1941G>C:p.Gln647His	coding	Benign
17	12753394	G	A	G12753394A	MYOCD	NM_001146312.3(MYOCD):c.2058+48G>A	noncoding	Benign
17	12753497	C	A	C12753497A	MYOCD	NM_001146312.3(MYOCD):c.2058+151C>A	noncoding	Benign
17	12753498	C	T	C12753498T	MYOCD	NM_001146312.3(MYOCD):c.2058+152C>T	noncoding	Benign
17	12756182	C	T	C12756182T	MYOCD	NM_001146312.3(MYOCD):c.2059-232C>T	noncoding	Benign
17	12760379	G	A	G12760379A	MYOCD	NM_001146312.3(MYOCD):c.2332-271G>A	coding	Benign
17	12760404	G	T	G12760404T	MYOCD	NM_001146312.3(MYOCD):c.2332-246G>T	coding	Benign
17	12760524	C	T	C12760524T	MYOCD	NM_001146312.3(MYOCD):c.2332-126C>T	coding	Benign
17	12760860	T	C	T12760860C	MYOCD	NM_001146312.3(MYOCD):c.2389+153T>C	coding	Benign
17	12992498	C	T	C12992498T	ELAC2	NM_018127.7(ELAC2):c.*320G>A	noncoding	Benign
17	12992538	A	T	A12992538T	ELAC2	NM_018127.7(ELAC2):c.*280T>A	noncoding	Benign
17	12992612	G	A	G12992612A	ELAC2	NM_018127.7(ELAC2):c.*206C>T	noncoding	Benign
17	12992667	G	C	G12992667C	ELAC2	NM_018127.7(ELAC2):c.*151C>G	noncoding	Benign
17	12993256	C	T	C12993256T	ELAC2	NM_018127.7(ELAC2):c.2254-211G>A	noncoding	Benign
17	12993516	G	C	G12993516C	ELAC2	NM_018127.7(ELAC2):c.2253+171C>G	noncoding	Benign
17	12993761	G	A	G12993761A	ELAC2	NM_018127.7(ELAC2):c.2179C>T:p.Gln727Ter	coding	Pathogenic
17	12993976	A	C	A12993976C	ELAC2	NM_018127.7(ELAC2):c.2109-145T>G	noncoding	Benign
17	12994983	G	A	G12994983A	ELAC2	NM_018127.7(ELAC2):c.1888C>T:p.Arg630Ter	coding	Pathogenic
17	12995137	C	A	C12995137A	ELAC2	NM_018127.7(ELAC2):c.1809-75G>T	noncoding	Benign
17	12995314	G	A	G12995314A	ELAC2	NM_018127.7(ELAC2):c.1809-252C>T	noncoding	Benign
17	12995474	A	G	A12995474G	ELAC2	NM_018127.7(ELAC2):c.1808+229T>C	noncoding	Benign
17	12995677	C	G	C12995677G	ELAC2	NM_018127.7(ELAC2):c.1808+26G>C	noncoding	Benign
17	12996409	A	G	A12996409G	ELAC2	NM_018127.7(ELAC2):c.1659+138T>C	noncoding	Benign
17	12998443	G	A	G12998443A	ELAC2	NM_018127.7(ELAC2):c.1489C>T:p.Arg497Ter	coding	Pathogenic/Likely_pathogenic
17	12998497	G	A	G12998497A	ELAC2	NM_018127.7(ELAC2):c.1435C>T:p.Gln479Ter	coding	Pathogenic
17	12998524	T	C	T12998524C	ELAC2	NM_018127.7(ELAC2):c.1424-16A>G	noncoding	Benign
17	13000189	T	A	T13000189A	ELAC2	NM_018127.7(ELAC2):c.1390A>T:p.Arg464Trp	coding	Benign/Likely_benign
17	13000499	C	T	C13000499T	ELAC2	NM_018127.7(ELAC2):c.1305-225G>A	noncoding	Benign
17	13002303	G	T	G13002303T	ELAC2	NM_018127.7(ELAC2):c.1275C>A:p.Tyr425Ter	coding	Pathogenic/Likely_pathogenic
17	13004887	T	C	T13004887C	ELAC2	NM_018127.7(ELAC2):c.983+102A>G	noncoding	Benign
17	13010707	T	C	T13010707C	ELAC2	NM_018127.7(ELAC2):c.680-36A>G	noncoding	Benign
17	13011603	A	G	A13011603G	ELAC2	NM_018127.7(ELAC2):c.679+60T>C	noncoding	Benign
17	13011654	T	C	T13011654C	ELAC2	NM_018127.7(ELAC2):c.679+9A>G	noncoding	Benign
17	13013445	A	C	A13013445C	ELAC2	NM_018127.7(ELAC2):c.491-170T>G	noncoding	Benign
17	13016745	C	A	C13016745A	ELAC2	NM_018127.7(ELAC2):c.367+117G>T	noncoding	Benign
17	13017723	G	C	G13017723C	ELAC2	NM_018127.7(ELAC2):c.225C>G:p.Tyr75Ter	coding	Pathogenic
17	13017860	C	A	C13017860A	ELAC2	NM_018127.7(ELAC2):c.88G>T:p.Glu30Ter	coding	Pathogenic
17	13017939	C	G	C13017939G	ELAC2	NM_018127.7(ELAC2):c.9G>C:p.Ala3=	coding	Benign
17	13018031	G	C	G13018031C	ELAC2	Single_allele	noncoding	Benign
17	13018133	T	C	T13018133C	ELAC2	Single_allele	noncoding	Benign
17	13018395	G	C	G13018395C	ELAC2	Single_allele	noncoding	Benign
17	14069166	C	T	C14069166T	COX10	Single_allele	noncoding	Benign
17	14074036	G	A	G14074036A	COX10	NM_001303.4(COX10):c.44-287G>A	noncoding	Benign
17	14076483	A	G	A14076483G	COX10	NM_001303.4(COX10):c.178-252A>G	noncoding	Benign
17	14077333	T	G	T14077333G	COX10	NM_001303.4(COX10):c.499+277T>G	noncoding	Benign
17	14101950	A	G	A14101950G	COX10	NM_001303.4(COX10):c.500-168A>G	noncoding	Benign
17	14102056	C	T	C14102056T	COX10	NM_001303.4(COX10):c.500-62C>T	noncoding	Benign
17	14102069	T	C	T14102069C	COX10	NM_001303.4(COX10):c.500-49T>C	noncoding	Benign
17	14102153	T	C	T14102153C	COX10	NM_001303.4(COX10):c.535T>C:p.Leu179=	coding	Benign/Likely_benign
17	14159975	A	G	A14159975G	COX10	NM_001303.4(COX10):c.695+28A>G	noncoding	Benign
17	14160072	G	T	G14160072T	COX10	NM_001303.4(COX10):c.695+125G>T	noncoding	Benign
17	14192365	T	C	T14192365C	COX10	NM_001303.4(COX10):c.928+144T>C	noncoding	Benign
17	15230689	C	T	C15230689T	PMP22	NM_000304.4(PMP22):c.*228G>A	noncoding	Benign/Likely_benign
17	15230719	G	C	G15230719C	PMP22	NM_000304.4(PMP22):c.*198C>G	noncoding	Benign
17	15230891	A	G	A15230891G	PMP22	NM_000304.4(PMP22):c.*26T>C	noncoding	Benign/Likely_benign
17	15230981	C	T	C15230981T	PMP22	NM_000304.4(PMP22):c.419G>A:p.Trp140Ter	coding	Pathogenic
17	15231111	G	A	G15231111A	PMP22	NM_000304.4(PMP22):c.320-31C>T	noncoding	Benign
17	15239470	C	A	C15239470A	PMP22	NM_000304.4(PMP22):c.319+1G>T	noncoding	Pathogenic
17	15239492	C	T	C15239492T	PMP22	NM_000304.4(PMP22):c.298G>A:p.Gly100Arg	coding	Pathogenic
17	15259195	T	C	T15259195C	PMP22	NM_000304.4(PMP22):c.79-2A>G	noncoding	Pathogenic
17	15259235	G	C	G15259235C	PMP22	NM_000304.4(PMP22):c.79-42C>G	noncoding	Benign
17	15260649	C	G	C15260649G	PMP22	NM_000304.4(PMP22):c.78+1G>C	noncoding	Pathogenic
17	15260733	C	A	C15260733A	PMP22	NM_000304.4(PMP22):c.-6G>T	noncoding	Benign/Likely_benign
17	15262264	A	C	A15262264C	PMP22	NM_000304.4(PMP22):c.-34-1503T>G	noncoding	Benign
17	15987265	C	A	C15987265A	ZSWIM7	NM_001042697.2(ZSWIM7):c.201+1G>T	noncoding	Pathogenic
17	16000288	C	A	C16000288A	TTC19	NM_017775.4(TTC19):c.312+43C>A	coding	Benign
17	16001876	A	G	A16001876G	TTC19	NM_017775.4(TTC19):c.313-39A>G	noncoding	Benign
17	16002646	T	G	T16002646G	TTC19	NM_017775.4(TTC19):c.424-147T>G	noncoding	Benign
17	16004263	G	A	G16004263A	TTC19	NM_017775.4(TTC19):c.581+1G>A	coding	Pathogenic
17	16006414	A	G	A16006414G	TTC19	NM_017775.4(TTC19):c.582-60A>G	noncoding	Benign
17	16024901	T	C	T16024901C	TTC19	NM_017775.4(TTC19):c.677-116T>C	noncoding	Benign
17	16024908	T	C	T16024908C	TTC19	NM_017775.4(TTC19):c.677-109T>C	noncoding	Benign
17	16025133	C	T	C16025133T	TTC19	NM_017775.4(TTC19):c.793C>T:p.Gln265Ter	coding	Pathogenic
17	16025270	T	G	T16025270G	TTC19	NM_017775.4(TTC19):c.831+99T>G	noncoding	Benign
17	16025286	G	C	G16025286C	TTC19	NM_017775.4(TTC19):c.831+115G>C	noncoding	Benign
17	16026773	G	A	G16026773A	TTC19	NM_017775.4(TTC19):c.994+71G>A	noncoding	Benign
17	16027748	T	C	T16027748C	TTC19	NM_017775.4(TTC19):c.*226T>C	noncoding	Benign/Likely_benign
17	16313291	A	C	A16313291C	PIGL	NM_004278.4(PIGL):c.427-256A>C	noncoding	Benign
17	16313674	G	C	G16313674C	PIGL	NM_004278.4(PIGL):c.494+60G>C	noncoding	Benign
17	16316478	C	T	C16316478T	PIGL	NM_004278.4(PIGL):c.495-203C>T	noncoding	Benign
17	16317976	C	A	C16317976A	PIGL	NM_004278.4(PIGL):c.660+68C>A	noncoding	Benign
17	16318005	T	C	T16318005C	PIGL	NM_004278.4(PIGL):c.660+97T>C	noncoding	Benign
17	16940387	C	T	C16940387T	TNFRSF13B	NM_012452.3(TNFRSF13B):c.570G>A:p.Gly190=	coding	Benign
17	16940405	G	T	G16940405T	TNFRSF13B	NM_012452.3(TNFRSF13B):c.552C>A:p.Cys184Ter	coding	Pathogenic
17	16948520	C	T	C16948520T	TNFRSF13B	NM_012452.3(TNFRSF13B):c.445+218G>A	noncoding	Benign
17	16948822	G	A	G16948822A	TNFRSF13B	NM_012452.3(TNFRSF13B):c.361C>T:p.Gln121Ter	coding	Pathogenic
17	16952584	C	T	C16952584T	TNFRSF13B	NM_012452.3(TNFRSF13B):c.62-1G>A	coding	Pathogenic
17	16952585	T	C	T16952585C	TNFRSF13B	NM_012452.3(TNFRSF13B):c.62-2A>G	noncoding	Pathogenic
17	16971747	A	G	A16971747G	TNFRSF13B	NM_012452.3(TNFRSF13B):c.61+268T>C	noncoding	Benign
17	16972013	A	G	A16972013G	TNFRSF13B	NM_012452.3(TNFRSF13B):c.61+2T>C	noncoding	Pathogenic
17	16972051	G	A	G16972051A	TNFRSF13B	NM_012452.3(TNFRSF13B):c.25C>T:p.Arg9Ter	coding	Pathogenic
17	16972322	C	A	C16972322A	TNFRSF13B	Single_allele	noncoding	Benign
17	17158927	C	G	C17158927G	MPRIP	NM_001364716.4(MPRIP):c.2325C>G:p.Ala775=	coding	Benign
17	17213703	G	A	G17213703A	FLCN	NM_144997.7(FLCN):c.1692C>T:p.His564=	coding	Benign/Likely_benign
17	17213738	A	G	A17213738G	FLCN	NM_144997.7(FLCN):c.1657T>C:p.Trp553Arg	coding	Pathogenic/Likely_pathogenic
17	17213872	A	C	A17213872C	FLCN	NM_144997.7(FLCN):c.1539-16T>G	noncoding	Benign
17	17214854	T	G	T17214854G	FLCN	NM_144997.7(FLCN):c.1538+131A>C	noncoding	Benign
17	17214864	G	A	G17214864A	FLCN	NM_144997.7(FLCN):c.1538+121C>T	noncoding	Benign
17	17215046	G	A	G17215046A	FLCN	NM_144997.7(FLCN):c.1477C>T:p.Gln493Ter	coding	Pathogenic
17	17215091	C	A	C17215091A	FLCN	NM_144997.7(FLCN):c.1433-1G>T	coding	Pathogenic
17	17215375	G	A	G17215375A	FLCN	NM_144997.7(FLCN):c.1301-59C>T	noncoding	Benign
17	17216368	G	A	G17216368A	FLCN	NM_144997.7(FLCN):c.1300+12C>T	noncoding	Benign
17	17216458	G	A	G17216458A	FLCN	NM_144997.7(FLCN):c.1222C>T:p.Gln408Ter	coding	Pathogenic
17	17216524	C	T	C17216524T	FLCN	NM_144997.7(FLCN):c.1177-21G>A	noncoding	Benign/Likely_benign
17	17216890	T	C	T17216890C	FLCN	NM_144997.7(FLCN):c.1176+179A>G	noncoding	Benign
17	17216935	C	G	C17216935G	FLCN	NM_144997.7(FLCN):c.1176+134G>C	noncoding	Benign
17	17217001	C	G	C17217001G	FLCN	NM_144997.7(FLCN):c.1176+68G>C	noncoding	Benign
17	17217039	G	A	G17217039A	FLCN	NM_144997.7(FLCN):c.1176+30C>T	noncoding	Benign
17	17217054	A	G	A17217054G	FLCN	NM_144997.7(FLCN):c.1176+15T>C	noncoding	Benign
17	17217092	G	A	G17217092A	FLCN	NM_144997.7(FLCN):c.1153C>T:p.Gln385Ter	coding	Pathogenic
17	17217118	C	T	C17217118T	FLCN	NM_144997.7(FLCN):c.1127G>A:p.Trp376Ter	coding	Pathogenic
17	17217148	C	T	C17217148T	FLCN	NM_144997.7(FLCN):c.1097G>A:p.Trp366Ter	coding	Pathogenic
17	17217299	G	A	G17217299A	FLCN	NM_144997.7(FLCN):c.1063-117C>T	noncoding	Benign
17	17217333	C	T	C17217333T	FLCN	NM_144997.7(FLCN):c.1063-151G>A	noncoding	Benign
17	17217354	G	C	G17217354C	FLCN	NM_144997.7(FLCN):c.1063-172C>G	noncoding	Benign
17	17217483	T	G	T17217483G	FLCN	NM_144997.7(FLCN):c.1063-301A>C	noncoding	Benign
17	17217498	T	C	T17217498C	FLCN	NM_144997.7(FLCN):c.1063-316A>G	noncoding	Benign
17	17218972	C	T	C17218972T	FLCN	NM_144997.7(FLCN):c.1062+47G>A	noncoding	Benign
17	17219066	G	A	G17219066A	FLCN	NM_144997.7(FLCN):c.1015C>T:p.Gln339Ter	coding	Pathogenic
17	17219111	G	A	G17219111A	FLCN	NM_144997.7(FLCN):c.970C>T:p.Gln324Ter	coding	Pathogenic
17	17219208	A	G	A17219208G	FLCN	NM_144997.7(FLCN):c.873T>C:p.Asp291=	coding	Benign/Likely_benign
17	17221311	C	T	C17221311T	FLCN	NM_144997.7(FLCN):c.871+226G>A	coding	Benign
17	17221521	A	T	A17221521T	FLCN	NM_144997.7(FLCN):c.871+16T>A	coding	Benign/Likely_benign
17	17221661	C	T	C17221661T	FLCN	NM_144997.7(FLCN):c.780-33G>A	noncoding	Benign
17	17222260	C	G	C17222260G	FLCN	NM_144997.7(FLCN):c.779+241G>C	noncoding	Benign
17	17222281	A	G	A17222281G	FLCN	NM_144997.7(FLCN):c.779+220T>C	noncoding	Benign
17	17222287	A	T	A17222287T	FLCN	NM_144997.7(FLCN):c.779+214T>A	noncoding	Benign
17	17222586	G	A	G17222586A	FLCN	NM_144997.7(FLCN):c.694C>T:p.Gln232Ter	coding	Pathogenic
17	17222727	G	A	G17222727A	FLCN	NM_144997.7(FLCN):c.619-66C>T	noncoding	Benign
17	17223786	G	C	G17223786C	FLCN	NM_144997.7(FLCN):c.618+136C>G	noncoding	Benign
17	17223921	C	T	C17223921T	FLCN	NM_144997.7(FLCN):c.618+1G>A	noncoding	Pathogenic
17	17223930	C	A	C17223930A	FLCN	NM_144997.7(FLCN):c.610G>T:p.Ala204Ser	coding	Pathogenic
17	17223982	C	T	C17223982T	FLCN	NM_144997.7(FLCN):c.558G>A:p.Trp186Ter	coding	Pathogenic
17	17224110	C	A	C17224110A	FLCN	NM_144997.7(FLCN):c.430G>T:p.Gly144Ter	coding	Pathogenic
17	17224144	C	A	C17224144A	FLCN	NM_144997.7(FLCN):c.397-1G>T	coding	Pathogenic/Likely_pathogenic
17	17224155	C	A	C17224155A	FLCN	NM_144997.7(FLCN):c.397-12G>T	noncoding	Benign/Likely_benign
17	17226205	G	A	G17226205A	FLCN	NM_144997.7(FLCN):c.367C>T:p.Gln123Ter	coding	Pathogenic
17	17226312	G	T	G17226312T	FLCN	NM_144997.7(FLCN):c.260C>A:p.Ser87Ter	coding	Pathogenic
17	17226610	C	T	C17226610T	FLCN	NM_144997.7(FLCN):c.250-288G>A	noncoding	Benign
17	17231694	G	C	G17231694C	FLCN	NM_144997.7(FLCN):c.-25+100C>G	noncoding	Benign
17	17232108	A	G	A17232108G	FLCN	NM_144997.7(FLCN):c.-113-226T>C	noncoding	Benign
17	17232173	T	C	T17232173C	FLCN	NM_144997.7(FLCN):c.-113-291A>G	noncoding	Benign
17	17233101	C	T	C17233101T	FLCN	NM_144997.7(FLCN):c.-227-200G>A	noncoding	Benign
17	17506246	C	T	C17506246T	PEMT	NM_148172.3(PEMT):c.634G>A:p.Val212Met	coding	Benign
17	17791447	G	A	G17791447A	RAI1	NM_030665.4(RAI1):c.-16-1486G>A	noncoding	Benign
17	17793044	G	A	G17793044A	RAI1	NM_030665.4(RAI1):c.96G>A:p.Gln32=	coding	Benign/Likely_benign
17	17793079	G	A	G17793079A	RAI1	NM_030665.4(RAI1):c.131G>A:p.Arg44Gln	coding	Benign
17	17793087	G	A	G17793087A	RAI1	NM_030665.4(RAI1):c.139G>A:p.Ala47Thr	coding	Benign/Likely_benign
17	17793106	C	T	C17793106T	RAI1	NM_030665.4(RAI1):c.158C>T:p.Pro53Leu	coding	Benign
17	17793135	G	A	G17793135A	RAI1	NM_030665.4(RAI1):c.187G>A:p.Ala63Thr	coding	Benign/Likely_benign
17	17793171	G	T	G17793171T	RAI1	NM_030665.4(RAI1):c.223G>T:p.Ala75Ser	coding	Benign/Likely_benign
17	17793251	C	T	C17793251T	RAI1	NM_030665.4(RAI1):c.303C>T:p.Gly101=	coding	Benign/Likely_benign
17	17793478	C	T	C17793478T	RAI1	NM_030665.4(RAI1):c.530C>T:p.Pro177Leu	coding	Benign/Likely_benign
17	17793479	G	A	G17793479A	RAI1	NM_030665.4(RAI1):c.531G>A:p.Pro177=	coding	Benign/Likely_benign
17	17793533	C	T	C17793533T	RAI1	NM_030665.4(RAI1):c.585C>T:p.Asn195=	coding	Benign/Likely_benign
17	17793552	C	T	C17793552T	RAI1	NM_030665.4(RAI1):c.604C>T:p.Pro202Ser	coding	Benign
17	17793816	C	T	C17793816T	RAI1	NM_030665.4(RAI1):c.868C>T:p.Gln290Ter	coding	Pathogenic
17	17793835	G	A	G17793835A	RAI1	NM_030665.4(RAI1):c.887G>A:p.Arg296Gln	coding	Benign
17	17793930	G	A	G17793930A	RAI1	NM_030665.4(RAI1):c.982G>A:p.Val328Ile	coding	Benign/Likely_benign
17	17794064	C	T	C17794064T	RAI1	NM_030665.4(RAI1):c.1116C>T:p.Tyr372=	coding	Benign/Likely_benign
17	17794082	C	T	C17794082T	RAI1	NM_030665.4(RAI1):c.1134C>T:p.Ser378=	coding	Benign/Likely_benign
17	17794086	G	A	G17794086A	RAI1	NM_030665.4(RAI1):c.1138G>A:p.Gly380Arg	coding	Benign
17	17794098	G	A	G17794098A	RAI1	NM_030665.4(RAI1):c.1150G>A:p.Ala384Thr	coding	Benign
17	17794214	C	T	C17794214T	RAI1	NM_030665.4(RAI1):c.1266C>T:p.Leu422=	coding	Benign
17	17794551	G	A	G17794551A	RAI1	NM_030665.4(RAI1):c.1603G>A:p.Ala535Thr	coding	Benign
17	17794604	C	T	C17794604T	RAI1	NM_030665.4(RAI1):c.1656C>T:p.Ser552=	coding	Benign/Likely_benign
17	17794677	G	A	G17794677A	RAI1	NM_030665.4(RAI1):c.1729G>A:p.Gly577Ser	coding	Benign
17	17794814	C	T	C17794814T	RAI1	NM_030665.4(RAI1):c.1866C>T:p.Ala622=	coding	Benign/Likely_benign
17	17795033	T	C	T17795033C	RAI1	NM_030665.4(RAI1):c.2085T>C:p.Ala695=	coding	Benign
17	17795111	C	T	C17795111T	RAI1	NM_030665.4(RAI1):c.2163C>T:p.Pro721=	coding	Benign
17	17795138	G	A	G17795138A	RAI1	NM_030665.4(RAI1):c.2190G>A:p.Pro730=	coding	Benign/Likely_benign
17	17795138	G	C	G17795138C	RAI1	NM_030665.4(RAI1):c.2190G>C:p.Pro730=	coding	Benign/Likely_benign
17	17795147	C	T	C17795147T	RAI1	NM_030665.4(RAI1):c.2199C>T:p.Thr733=	coding	Benign/Likely_benign
17	17795252	C	T	C17795252T	RAI1	NM_030665.4(RAI1):c.2304C>T:p.Gly768=	coding	Benign
17	17795473	G	A	G17795473A	RAI1	NM_030665.4(RAI1):c.2525G>A:p.Arg842Gln	coding	Benign
17	17795570	A	G	A17795570G	RAI1	NM_030665.4(RAI1):c.2622A>G:p.Leu874=	coding	Benign/Likely_benign
17	17795715	G	A	G17795715A	RAI1	NM_030665.4(RAI1):c.2767G>A:p.Glu923Lys	coding	Benign
17	17795899	C	T	C17795899T	RAI1	NM_030665.4(RAI1):c.2951C>T:p.Ala984Val	coding	Benign/Likely_benign
17	17796069	G	T	G17796069T	RAI1	NM_030665.4(RAI1):c.3121G>T:p.Ala1041Ser	coding	Benign
17	17796131	G	A	G17796131A	RAI1	NM_030665.4(RAI1):c.3183G>A:p.Thr1061=	coding	Benign
17	17796167	C	T	C17796167T	RAI1	NM_030665.4(RAI1):c.3219C>T:p.Gly1073=	coding	Benign
17	17796213	C	T	C17796213T	RAI1	NM_030665.4(RAI1):c.3265C>T:p.Arg1089Ter	coding	Pathogenic
17	17796230	G	A	G17796230A	RAI1	NM_030665.4(RAI1):c.3282G>A:p.Ser1094=	coding	Benign
17	17796266	C	A	C17796266A	RAI1	NM_030665.4(RAI1):c.3318C>A:p.Ala1106=	coding	Benign/Likely_benign
17	17796397	C	G	C17796397G	RAI1	NM_030665.4(RAI1):c.3449C>G:p.Thr1150Ser	coding	Benign
17	17796500	C	T	C17796500T	RAI1	NM_030665.4(RAI1):c.3552C>T:p.Pro1184=	coding	Benign/Likely_benign
17	17796603	C	T	C17796603T	RAI1	NM_030665.4(RAI1):c.3655C>T:p.Leu1219Phe	coding	Benign/Likely_benign
17	17796641	G	A	G17796641A	RAI1	NM_030665.4(RAI1):c.3693G>A:p.Pro1231=	coding	Benign/Likely_benign
17	17796658	G	A	G17796658A	RAI1	NM_030665.4(RAI1):c.3710G>A:p.Arg1237Gln	coding	Benign
17	17796679	G	A	G17796679A	RAI1	NM_030665.4(RAI1):c.3731G>A:p.Arg1244His	coding	Benign
17	17796709	A	G	A17796709G	RAI1	NM_030665.4(RAI1):c.3761A>G:p.Asn1254Ser	coding	Benign
17	17796833	G	A	G17796833A	RAI1	NM_030665.4(RAI1):c.3885G>A:p.Pro1295=	coding	Benign/Likely_benign
17	17796833	G	T	G17796833T	RAI1	NM_030665.4(RAI1):c.3885G>T:p.Pro1295=	coding	Benign
17	17796868	G	T	G17796868T	RAI1	NM_030665.4(RAI1):c.3920G>T:p.Arg1307Leu	coding	Benign
17	17797059	G	A	G17797059A	RAI1	NM_030665.4(RAI1):c.4111G>A:p.Ala1371Thr	coding	Benign
17	17797265	G	T	G17797265T	RAI1	NM_030665.4(RAI1):c.4317G>T:p.Gly1439=	coding	Benign/Likely_benign
17	17797345	G	A	G17797345A	RAI1	NM_030665.4(RAI1):c.4397G>A:p.Arg1466Gln	coding	Benign/Likely_benign
17	17797664	G	A	G17797664A	RAI1	NM_030665.4(RAI1):c.4716G>A:p.Glu1572=	coding	Benign/Likely_benign
17	17797742	C	T	C17797742T	RAI1	NM_030665.4(RAI1):c.4794C>T:p.Phe1598=	coding	Benign/Likely_benign
17	17797858	C	T	C17797858T	RAI1	NM_030665.4(RAI1):c.4910C>T:p.Ser1637Leu	coding	Benign
17	17797906	C	T	C17797906T	RAI1	NM_030665.4(RAI1):c.4958C>T:p.Pro1653Leu	coding	Benign
17	17797920	C	A	C17797920A	RAI1	NM_030665.4(RAI1):c.4972C>A:p.Leu1658Met	coding	Benign/Likely_benign
17	17798098	C	T	C17798098T	RAI1	NM_030665.4(RAI1):c.5150C>T:p.Pro1717Leu	coding	Benign
17	17798118	C	T	C17798118T	RAI1	NM_030665.4(RAI1):c.5170C>T:p.Arg1724Trp	coding	Benign/Likely_benign
17	17798147	G	A	G17798147A	RAI1	NM_030665.4(RAI1):c.5199G>A:p.Ser1733=	coding	Benign/Likely_benign
17	17798191	C	T	C17798191T	RAI1	NM_030665.4(RAI1):c.5243C>T:p.Ala1748Val	coding	Benign/Likely_benign
17	17798193	G	A	G17798193A	RAI1	NM_030665.4(RAI1):c.5245G>A:p.Ala1749Thr	coding	Benign
17	17798201	C	T	C17798201T	RAI1	NM_030665.4(RAI1):c.5253C>T:p.Ala1751=	coding	Benign/Likely_benign
17	17798222	C	T	C17798222T	RAI1	NM_030665.4(RAI1):c.5274C>T:p.Asp1758=	coding	Benign/Likely_benign
17	17798255	G	A	G17798255A	RAI1	NM_030665.4(RAI1):c.5307G>A:p.Leu1769=	coding	Benign
17	17798314	G	A	G17798314A	RAI1	NM_030665.4(RAI1):c.5366G>A:p.Arg1789Gln	coding	Benign/Likely_benign
17	17798371	G	A	G17798371A	RAI1	NM_030665.4(RAI1):c.5423G>A:p.Ser1808Asn	coding	Benign
17	17798380	C	G	C17798380G	RAI1	NM_030665.4(RAI1):c.5432C>G:p.Ala1811Gly	coding	Benign
17	17798465	C	A	C17798465A	RAI1	NM_030665.4(RAI1):c.5517C>A:p.Ala1839=	coding	Benign
17	17798743	G	A	G17798743A	RAI1	NM_030665.4(RAI1):c.5565+230G>A	noncoding	Benign
17	17803735	C	A	C17803735A	RAI1	NM_030665.4(RAI1):c.5566-21C>A	noncoding	Benign
17	17803806	A	G	A17803806G	RAI1	NM_030665.4(RAI1):c.5616A>G:p.Lys1872=	coding	Benign
17	17803842	C	T	C17803842T	RAI1	NM_030665.4(RAI1):c.5652C>T:p.Ser1884=	coding	Benign
17	17804096	A	G	A17804096G	RAI1	NM_030665.4(RAI1):c.5659+247A>G	noncoding	Benign
17	17809601	C	T	C17809601T	RAI1	NM_030665.4(RAI1):c.5709+162C>T	noncoding	Benign
17	17809977	C	T	C17809977T	RAI1	NM_030665.4(RAI1):c.5717C>T:p.Pro1906Leu	coding	Benign
17	17817077	A	G	A17817077G	SREBF1	NM_004176.5(SREBF1):c.1666T>C:p.Leu556=	coding	Benign
17	17819572	G	A	G17819572A	SREBF1	NM_004176.5(SREBF1):c.677C>T:p.Thr226Met	coding	Benign
17	17820281	G	A	G17820281A	SREBF1	NM_004176.5(SREBF1):c.332C>T:p.Pro111Leu	coding	Benign
17	18018847	C	T	C18018847T	ATPAF2	NM_145691.4(ATPAF2):c.733-161G>A	noncoding	Benign
17	18021589	T	C	T18021589C	ATPAF2	NM_145691.4(ATPAF2):c.616+156A>G	noncoding	Benign
17	18024355	G	A	G18024355A	ATPAF2	NM_145691.4(ATPAF2):c.503+269C>T	noncoding	Benign
17	18026304	C	T	C18026304T	ATPAF2	NM_145691.4(ATPAF2):c.422+15G>A	noncoding	Benign/Likely_benign
17	18028449	A	G	A18028449G	ATPAF2	NM_145691.4(ATPAF2):c.179-72T>C	noncoding	Benign
17	18039299	C	T	C18039299T	ATPAF2	Single_allele	noncoding	Benign
17	18118293	G	A	G18118293A	MYO15A	NM_016239.4(MYO15A):c.-219-289G>A	noncoding	Benign
17	18119396	C	G	C18119396G	MYO15A	NM_016239.4(MYO15A):c.596C>G:p.Ser199Ter	coding	Pathogenic
17	18119968	G	T	G18119968T	MYO15A	NM_016239.4(MYO15A):c.1168G>T:p.Glu390Ter	coding	Pathogenic
17	18121219	C	T	C18121219T	MYO15A	NM_016239.4(MYO15A):c.2419C>T:p.Gln807Ter	coding	Pathogenic/Likely_pathogenic
17	18121256	C	A	C18121256A	MYO15A	NM_016239.4(MYO15A):c.2456C>A:p.Ser819Ter	coding	Pathogenic
17	18122274	G	A	G18122274A	MYO15A	NM_016239.4(MYO15A):c.3474G>A:p.Trp1158Ter	coding	Pathogenic
17	18122430	C	G	C18122430G	MYO15A	NM_016239.4(MYO15A):c.3609+21C>G	noncoding	Benign
17	18125004	C	G	C18125004G	MYO15A	NM_016239.4(MYO15A):c.3693-164C>G	noncoding	Benign
17	18125166	A	G	A18125166G	MYO15A	NM_016239.4(MYO15A):c.3693-2A>G	noncoding	Pathogenic
17	18125175	C	T	C18125175T	MYO15A	NM_016239.4(MYO15A):c.3700C>T:p.Gln1234Ter	coding	Pathogenic
17	18126419	C	T	C18126419T	MYO15A	NM_016239.4(MYO15A):c.3829C>T:p.Gln1277Ter	coding	Pathogenic
17	18126474	G	A	G18126474A	MYO15A	NM_016239.4(MYO15A):c.3866+18G>A	noncoding	Benign/Likely_benign
17	18126543	C	T	C18126543T	MYO15A	NM_016239.4(MYO15A):c.3866+87C>T	noncoding	Benign
17	18131343	G	T	G18131343T	MYO15A	NM_016239.4(MYO15A):c.4142+1G>T	coding	Pathogenic
17	18131705	G	A	G18131705A	MYO15A	NM_016239.4(MYO15A):c.4206+174G>A	noncoding	Benign
17	18132969	A	G	A18132969G	MYO15A	NM_016239.4(MYO15A):c.4321-256A>G	noncoding	Benign
17	18133226	G	T	G18133226T	MYO15A	NM_016239.4(MYO15A):c.4322G>T:p.Gly1441Val	coding	Pathogenic
17	18133345	T	C	T18133345C	MYO15A	NM_016239.4(MYO15A):c.4441T>C:p.Ser1481Pro	coding	Pathogenic
17	18135949	A	T	A18135949T	MYO15A	NM_016239.4(MYO15A):c.4596+125A>T	noncoding	Benign
17	18136365	C	T	C18136365T	MYO15A	NM_016239.4(MYO15A):c.4597-52C>T	noncoding	Benign
17	18136415	A	G	A18136415G	MYO15A	NM_016239.4(MYO15A):c.4597-2A>G	noncoding	Pathogenic
17	18136426	C	T	C18136426T	MYO15A	NM_016239.4(MYO15A):c.4606C>T:p.Arg1536Ter	coding	Pathogenic
17	18137376	C	T	C18137376T	MYO15A	NM_016239.4(MYO15A):c.4780-208C>T	noncoding	Benign
17	18137625	C	A	C18137625A	MYO15A	NM_016239.4(MYO15A):c.4821C>A:p.Tyr1607Ter	coding	Pathogenic
17	18138795	C	G	C18138795G	MYO15A	NM_016239.4(MYO15A):c.5008-16C>G	noncoding	Benign
17	18138962	A	C	A18138962C	MYO15A	NM_016239.4(MYO15A):c.5133+26A>C	noncoding	Benign
17	18139213	A	G	A18139213G	MYO15A	NM_016239.4(MYO15A):c.5133+277A>G	noncoding	Benign
17	18139533	G	A	G18139533A	MYO15A	NM_016239.4(MYO15A):c.5134-1G>A	noncoding	Pathogenic
17	18139662	C	A	C18139662A	MYO15A	NM_016239.4(MYO15A):c.5211+51C>A	noncoding	Benign
17	18139792	G	A	G18139792A	MYO15A	NM_016239.4(MYO15A):c.5211+181G>A	noncoding	Benign
17	18140452	C	G	C18140452G	MYO15A	NM_016239.4(MYO15A):c.5212-65C>G	noncoding	Benign
17	18140956	T	C	T18140956C	MYO15A	NM_016239.4(MYO15A):c.5407-63T>C	noncoding	Benign
17	18141278	C	T	C18141278T	MYO15A	NM_016239.4(MYO15A):c.5531+135C>T	noncoding	Benign
17	18141579	G	A	G18141579A	MYO15A	NM_016239.4(MYO15A):c.5532-74G>A	noncoding	Benign
17	18142238	C	G	C18142238G	MYO15A	NM_016239.4(MYO15A):c.5809C>G:p.Arg1937Gly	coding	Pathogenic
17	18142327	G	A	G18142327A	MYO15A	NM_016239.4(MYO15A):c.5825+73G>A	noncoding	Benign
17	18142765	T	G	T18142765G	MYO15A	NM_016239.4(MYO15A):c.5835T>G:p.Tyr1945Ter	coding	Pathogenic
17	18142857	A	C	A18142857C	MYO15A	NM_016239.4(MYO15A):c.5910+17A>C	noncoding	Benign/Likely_benign
17	18142976	T	C	T18142976C	MYO15A	NM_016239.4(MYO15A):c.5910+136T>C	noncoding	Benign
17	18143727	C	T	C18143727T	MYO15A	NM_016239.4(MYO15A):c.5977C>T:p.Arg1993Trp	coding	Pathogenic
17	18144001	G	T	G18144001T	MYO15A	NM_016239.4(MYO15A):c.6177+1G>T	coding	Pathogenic
17	18145823	G	A	G18145823A	MYO15A	NM_016239.4(MYO15A):c.6274-49G>A	noncoding	Benign
17	18148661	T	C	T18148661C	MYO15A	NM_016239.4(MYO15A):c.6764+93T>C	noncoding	Benign
17	18148894	A	T	A18148894T	MYO15A	NM_016239.4(MYO15A):c.6898A>T:p.Lys2300Ter	coding	Pathogenic
17	18148961	C	G	C18148961G	MYO15A	NM_016239.4(MYO15A):c.6956+9C>G	noncoding	Pathogenic
17	18150835	G	A	G18150835A	MYO15A	NM_016239.4(MYO15A):c.7396-1G>A	noncoding	Pathogenic/Likely_pathogenic
17	18151291	G	A	G18151291A	MYO15A	NM_016239.4(MYO15A):c.7654+1G>A	coding	Pathogenic
17	18151291	G	C	G18151291C	MYO15A	NM_016239.4(MYO15A):c.7654+1G>C	coding	Pathogenic
17	18151554	G	T	G18151554T	MYO15A	NM_016239.4(MYO15A):c.7787+27G>T	noncoding	Benign
17	18151603	T	C	T18151603C	MYO15A	NM_016239.4(MYO15A):c.7787+76T>C	noncoding	Benign
17	18153773	A	T	A18153773T	MYO15A	NM_016239.4(MYO15A):c.7967-2A>T	noncoding	Pathogenic
17	18153958	A	G	A18153958G	MYO15A	NM_016239.4(MYO15A):c.8088+62A>G	noncoding	Benign
17	18153987	G	A	G18153987A	MYO15A	NM_016239.4(MYO15A):c.8088+91G>A	noncoding	Benign
17	18154593	A	G	A18154593G	MYO15A	NM_016239.4(MYO15A):c.8149-87A>G	noncoding	Benign
17	18155209	G	T	G18155209T	MYO15A	NM_016239.4(MYO15A):c.8324G>T:p.Arg2775Leu	coding	Pathogenic
17	18155335	C	T	C18155335T	MYO15A	NM_016239.4(MYO15A):c.8362C>T:p.Gln2788Ter	coding	Pathogenic
17	18156140	G	A	G18156140A	MYO15A	NM_016239.4(MYO15A):c.8460-55G>A	noncoding	Benign
17	18156283	C	T	C18156283T	MYO15A	NM_016239.4(MYO15A):c.8548C>T:p.Arg2850Ter	coding	Pathogenic
17	18156878	G	A	G18156878A	MYO15A	NM_016239.4(MYO15A):c.8602-76G>A	noncoding	Benign
17	18157172	C	A	C18157172A	MYO15A	NM_016239.4(MYO15A):c.8730C>A:p.Cys2910Ter	coding	Pathogenic
17	18157561	C	T	C18157561T	MYO15A	NM_016239.4(MYO15A):c.8789-161C>T	noncoding	Benign
17	18158214	T	G	T18158214G	MYO15A	NM_016239.4(MYO15A):c.8968-309T>G	noncoding	Benign
17	18158950	G	T	G18158950T	MYO15A	NM_016239.4(MYO15A):c.9109G>T:p.Glu3037Ter	coding	Pathogenic
17	18159129	G	A	G18159129A	MYO15A	NM_016239.4(MYO15A):c.9156+132G>A	noncoding	Benign
17	18159986	A	T	A18159986T	MYO15A	NM_016239.4(MYO15A):c.9355A>T:p.Lys3119Ter	coding	Pathogenic
17	18159989	C	T	C18159989T	MYO15A	NM_016239.4(MYO15A):c.9358C>T:p.Gln3120Ter	coding	Pathogenic
17	18160127	T	C	T18160127C	MYO15A	NM_016239.4(MYO15A):c.9386+110T>C	noncoding	Benign
17	18161002	C	T	C18161002T	MYO15A	NM_016239.4(MYO15A):c.9387-315C>T	noncoding	Benign
17	18161330	C	T	C18161330T	MYO15A	NM_016239.4(MYO15A):c.9400C>T:p.Arg3134Ter	coding	Pathogenic
17	18161483	G	A	G18161483A	MYO15A	NM_016239.4(MYO15A):c.9517+36G>A	noncoding	Benign
17	18161627	T	G	T18161627G	MYO15A	NM_016239.4(MYO15A):c.9517+180T>G	noncoding	Benign
17	18161655	G	A	G18161655A	MYO15A	NM_016239.4(MYO15A):c.9517+208G>A	noncoding	Benign
17	18162423	G	C	G18162423C	MYO15A	NM_016239.4(MYO15A):c.9518-162G>C	noncoding	Benign
17	18162601	C	A	C18162601A	MYO15A	NM_016239.4(MYO15A):c.9534C>A:p.Cys3178Ter	coding	Pathogenic
17	18162828	C	T	C18162828T	MYO15A	NM_016239.4(MYO15A):c.9612+149C>T	noncoding	Benign
17	18163322	G	A	G18163322A	MYO15A	NM_016239.4(MYO15A):c.9690+1G>A	coding	Pathogenic
17	18163477	C	T	C18163477T	MYO15A	NM_016239.4(MYO15A):c.9690+156C>T	noncoding	Benign
17	18163839	G	A	G18163839A	MYO15A	NM_016239.4(MYO15A):c.9787+1G>A	coding	Pathogenic
17	18164090	A	G	A18164090G	MYO15A	NM_016239.4(MYO15A):c.9787+252A>G	noncoding	Benign
17	18166314	G	T	G18166314T	MYO15A	NM_016239.4(MYO15A):c.9788-47G>T	noncoding	Benign
17	18166748	A	G	A18166748G	MYO15A	NM_016239.4(MYO15A):c.9948+227A>G	noncoding	Benign
17	18167447	G	A	G18167447A	MYO15A	NM_016239.4(MYO15A):c.9949-143G>A	noncoding	Benign
17	18167898	C	T	C18167898T	MYO15A	NM_016239.4(MYO15A):c.10082+175C>T	noncoding	Benign
17	18168024	A	G	A18168024G	MYO15A	NM_016239.4(MYO15A):c.10082+301A>G	noncoding	Benign
17	18171732	C	T	C18171732T	MYO15A	NM_016239.4(MYO15A):c.10177C>T:p.Gln3393Ter	coding	Pathogenic
17	18172292	T	G	T18172292G	MYO15A	NM_016239.4(MYO15A):c.10350+2T>G	noncoding	Pathogenic
17	18172586	G	A	G18172586A	MYO15A	NM_016239.4(MYO15A):c.10350+296G>A	noncoding	Benign
17	18173855	C	A	C18173855A	MYO15A	NM_016239.4(MYO15A):c.10425C>A:p.Tyr3475Ter	coding	Pathogenic
17	18277682	G	A	G18277682A	TOP3A	NM_004618.5(TOP3A):c.2820C>T:p.Thr940=	coding	Benign/Likely_benign
17	18277862	G	A	G18277862A	TOP3A	NM_004618.5(TOP3A):c.2640C>T:p.His880=	coding	Benign
17	18278278	C	T	C18278278T	TOP3A	NM_004618.5(TOP3A):c.2224G>A:p.Asp742Asn	coding	Benign
17	18280697	G	T	G18280697T	TOP3A	NM_004618.5(TOP3A):c.2022-39C>A	noncoding	Benign
17	18282713	G	A	G18282713A	TOP3A	NM_004618.5(TOP3A):c.2006C>T:p.Thr669Ile	coding	Benign
17	18282834	C	T	C18282834T	TOP3A	NM_004618.5(TOP3A):c.1885G>A:p.Glu629Lys	coding	Benign
17	18285401	C	T	C18285401T	TOP3A	NM_004618.5(TOP3A):c.1711+6G>A	noncoding	Benign
17	18285504	A	G	A18285504G	TOP3A	NM_004618.5(TOP3A):c.1614T>C:p.His538=	coding	Benign
17	18290627	G	A	G18290627A	TOP3A	NM_004618.5(TOP3A):c.1527C>T:p.Asp509=	coding	Benign
17	18290697	C	A	C18290697A	TOP3A	NM_004618.5(TOP3A):c.1468-11G>T	noncoding	Benign
17	18290878	A	G	A18290878G	TOP3A	NM_004618.5(TOP3A):c.1431T>C:p.Tyr477=	coding	Benign
17	18290934	C	T	C18290934T	TOP3A	NM_004618.5(TOP3A):c.1375G>A:p.Asp459Asn	coding	Benign
17	18291048	C	T	C18291048T	TOP3A	NM_004618.5(TOP3A):c.1282-21G>A	noncoding	Benign
17	18292713	G	A	G18292713A	TOP3A	NM_004618.5(TOP3A):c.1213C>T:p.Arg405Cys	coding	Benign
17	18299682	C	T	C18299682T	TOP3A	NM_004618.5(TOP3A):c.916-49G>A	noncoding	Benign
17	18305230	G	A	G18305230A	TOP3A	NM_004618.5(TOP3A):c.391-10C>T	noncoding	Benign
17	18306977	A	C	A18306977C	TOP3A	NM_004618.5(TOP3A):c.315-11T>G	noncoding	Benign
17	18314589	G	C	G18314589C	TOP3A	NM_004618.5(TOP3A):c.180+10C>G	noncoding	Benign
17	18314644	C	T	C18314644T	TOP3A	NM_004618.5(TOP3A):c.135G>A:p.Ala45=	coding	Benign
17	18314768	G	A	G18314768A	TOP3A	NM_004618.5(TOP3A):c.11C>T:p.Pro4Leu	coding	Benign
17	19337659	G	A	G19337659A	B9D1	NM_001321218.2(B9D1):c.*61C>T	noncoding	Benign
17	19337684	C	A	C19337684A	B9D1	NM_001321218.2(B9D1):c.*36G>T	noncoding	Benign
17	19337782	A	G	A19337782G	B9D1	NM_001321218.2(B9D1):c.473-34T>C	noncoding	Benign
17	19337913	T	C	T19337913C	B9D1	NM_001321218.2(B9D1):c.473-165A>G	noncoding	Benign
17	19338043	A	G	A19338043G	B9D1	NM_001321218.2(B9D1):c.473-295T>C	noncoding	Benign
17	19347366	G	A	G19347366A	B9D1	NM_015681.6(B9D1):c.342-35C>T	noncoding	Benign
17	19347899	G	T	G19347899T	B9D1	NM_015681.6(B9D1):c.245-19C>A	noncoding	Benign/Likely_benign
17	19348063	C	G	C19348063G	B9D1	NM_015681.6(B9D1):c.245-183G>C	noncoding	Benign
17	19360111	T	G	T19360111G	B9D1	NM_015681.6(B9D1):c.132+209A>C	noncoding	Benign
17	19360490	T	C	T19360490C	B9D1	NM_015681.6(B9D1):c.64-102A>G	noncoding	Benign
17	19362283	C	T	C19362283T	B9D1	NM_015681.6(B9D1):c.63+224G>A	noncoding	Benign
17	19377693	A	C	A19377693C	B9D1	NM_001368769.2(B9D1):c.-298+166T>G	noncoding	Benign
17	19649044	C	T	C19649044T	ALDH3A2	NM_000382.3(ALDH3A2):c.73C>T:p.Gln25Ter	coding	Pathogenic/Likely_pathogenic
17	19649163	C	T	C19649163T	ALDH3A2	NM_000382.3(ALDH3A2):c.153+39C>T	noncoding	Benign
17	19649406	A	G	A19649406G	ALDH3A2	NM_000382.3(ALDH3A2):c.153+282A>G	noncoding	Benign
17	19652412	A	T	A19652412T	ALDH3A2	NM_000382.3(ALDH3A2):c.386-135A>T	noncoding	Benign
17	19652541	A	G	A19652541G	ALDH3A2	NM_000382.3(ALDH3A2):c.386-6A>G	noncoding	Benign/Likely_benign
17	19652663	T	C	T19652663C	ALDH3A2	NM_000382.3(ALDH3A2):c.471+31T>C	noncoding	Benign
17	19656155	A	G	A19656155G	ALDH3A2	NM_000382.3(ALDH3A2):c.472-211A>G	noncoding	Benign
17	19656216	G	C	G19656216C	ALDH3A2	NM_000382.3(ALDH3A2):c.472-150G>C	noncoding	Benign
17	19656310	G	A	G19656310A	ALDH3A2	NM_000382.3(ALDH3A2):c.472-56G>A	noncoding	Benign
17	19656364	A	G	A19656364G	ALDH3A2	NM_000382.3(ALDH3A2):c.472-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	19657539	A	G	A19657539G	ALDH3A2	NM_000382.3(ALDH3A2):c.681-206A>G	noncoding	Benign
17	19657743	A	G	A19657743G	ALDH3A2	NM_000382.3(ALDH3A2):c.681-2A>G	noncoding	Pathogenic
17	19657746	C	T	C19657746T	ALDH3A2	NM_000382.3(ALDH3A2):c.682C>T:p.Arg228Cys	coding	Pathogenic/Likely_pathogenic
17	19657841	G	A	G19657841A	ALDH3A2	NM_000382.3(ALDH3A2):c.777G>A:p.Trp259Ter	coding	Pathogenic/Likely_pathogenic
17	19657862	G	C	G19657862C	ALDH3A2	NM_000382.3(ALDH3A2):c.798G>C:p.Lys266Asn	coding	Pathogenic/Likely_pathogenic
17	19658116	T	G	T19658116G	ALDH3A2	NM_000382.3(ALDH3A2):c.798+254T>G	noncoding	Benign
17	19658121	A	T	A19658121T	ALDH3A2	NM_000382.3(ALDH3A2):c.798+259A>T	noncoding	Benign
17	19661163	T	A	T19661163A	ALDH3A2	NM_000382.3(ALDH3A2):c.835T>A:p.Tyr279Asn	coding	Pathogenic
17	19661321	C	G	C19661321G	ALDH3A2	NM_000382.3(ALDH3A2):c.940+53C>G	noncoding	Benign/Likely_benign
17	19661500	C	T	C19661500T	ALDH3A2	NM_000382.3(ALDH3A2):c.940+232C>T	noncoding	Benign
17	19663395	C	T	C19663395T	ALDH3A2	NM_000382.3(ALDH3A2):c.1003C>T:p.Pro335Ser	coding	Pathogenic
17	19671777	C	T	C19671777T	ALDH3A2	NM_000382.3(ALDH3A2):c.1264C>T:p.Gln422Ter	coding	Pathogenic
17	19671781	G	A	G19671781A	ALDH3A2	NM_000382.3(ALDH3A2):c.1268G>A:p.Arg423His	coding	Pathogenic
17	21300880	C	T	C21300880T	MAP2K3	NM_145109.3(MAP2K3):c.286C>T:p.Arg96Trp	coding	Pathogenic
17	21416665	A	G	A21416665G	KCNJ18	NM_021012.5(KCNJ12):c.*21A>G	noncoding	Benign
17	21702873	C	T	C21702873T	KCNJ18	NM_001194958.2(KCNJ18):c.87C>T:p.Asn29=	coding	Benign
17	28357368	T	G	T28357368G	TMEM199	NM_015584.5(POLDIP2):c.81A>C:p.Pro27=	coding	Benign
17	28357714	T	C	T28357714C	TMEM199	NM_152464.3(TMEM199):c.44T>C:p.Leu15Ser	coding	Benign
17	28359195	C	T	C28359195T	TMEM199	NM_152464.3(TMEM199):c.286-120C>T	noncoding	Benign
17	28359393	G	A	G28359393A	TMEM199	NM_152464.3(TMEM199):c.364G>A:p.Val122Ile	coding	Benign
17	28359422	A	G	A28359422G	TMEM199	NM_152464.3(TMEM199):c.375+18A>G	noncoding	Benign
17	28360510	T	A	T28360510A	TMEM199	NM_152464.3(TMEM199):c.376-19T>A	noncoding	Benign
17	28402410	C	T	C28402410T	SLC46A1	NM_080669.6(SLC46A1):c.1082-89G>A	noncoding	Benign
17	28402435	A	G	A28402435G	SLC46A1	NM_080669.6(SLC46A1):c.1082-114T>C	noncoding	Benign
17	28404791	T	C	T28404791C	SLC46A1	NM_080669.6(SLC46A1):c.906A>G:p.Lys302=	coding	Benign/Likely_benign
17	28405870	C	T	C28405870T	SLC46A1	NM_080669.6(SLC46A1):c.228+17G>A	noncoding	Benign
17	28523911	A	C	A28523911C	FOXN1	NM_001369369.1(FOXN1):c.-14-45A>C	noncoding	Benign
17	28524033	G	T	G28524033T	FOXN1	NM_001369369.1(FOXN1):c.64G>T:p.Glu22Ter	coding	Pathogenic
17	28524541	C	T	C28524541T	FOXN1	NM_001369369.1(FOXN1):c.162C>T:p.Asp54=	coding	Benign
17	28525133	C	T	C28525133T	FOXN1	NM_001369369.1(FOXN1):c.588+166C>T	noncoding	Benign
17	28528793	G	A	G28528793A	FOXN1	NM_001369369.1(FOXN1):c.700-301G>A	noncoding	Benign
17	28528953	T	G	T28528953G	FOXN1	NM_001369369.1(FOXN1):c.700-141T>G	noncoding	Benign
17	28528962	G	A	G28528962A	FOXN1	NM_001369369.1(FOXN1):c.700-132G>A	noncoding	Benign
17	28528980	G	A	G28528980A	FOXN1	NM_001369369.1(FOXN1):c.700-114G>A	noncoding	Benign
17	28529117	C	G	C28529117G	FOXN1	NM_001369369.1(FOXN1):c.723C>G:p.Tyr241Ter	coding	Pathogenic
17	28529129	C	T	C28529129T	FOXN1	NM_001369369.1(FOXN1):c.735C>T:p.Tyr245=	coding	Benign
17	28530719	C	T	C28530719T	FOXN1	NM_001369369.1(FOXN1):c.831-30C>T	noncoding	Benign
17	28534051	C	G	C28534051G	FOXN1	NM_001369369.1(FOXN1):c.928-280C>G	noncoding	Benign
17	28534134	T	C	T28534134C	FOXN1	NM_001369369.1(FOXN1):c.928-197T>C	noncoding	Benign
17	28534153	G	C	G28534153C	FOXN1	NM_001369369.1(FOXN1):c.928-178G>C	noncoding	Benign
17	28534600	A	G	A28534600G	FOXN1	NM_001369369.1(FOXN1):c.1135+62A>G	noncoding	Benign
17	28536905	C	T	C28536905T	FOXN1	NM_001369369.1(FOXN1):c.1628-212C>T	noncoding	Benign
17	28537153	C	T	C28537153T	FOXN1	NM_001369369.1(FOXN1):c.1664C>T:p.Ala555Val	coding	Benign
17	28556837	C	T	C28556837T	PIGS	NM_033198.4(PIGS):c.1070G>A:p.Gly357Asp	coding	Pathogenic
17	28556921	G	C	G28556921C	PIGS	NM_033198.4(PIGS):c.986C>G:p.Pro329Arg	coding	Pathogenic
17	28560134	C	T	C28560134T	PIGS	NM_033198.4(PIGS):c.734G>A:p.Trp245Ter	coding	Pathogenic
17	28571049	C	G	C28571049G	PIGS	NM_033198.4(PIGS):c.174G>C:p.Gln58His	coding	Pathogenic
17	28729007	C	A	C28729007A	NEK8	NM_178170.3(NEK8):c.47+147C>A	noncoding	Benign
17	28729008	C	T	C28729008T	NEK8	NM_178170.3(NEK8):c.47+148C>T	noncoding	Benign
17	28734253	G	A	G28734253A	NEK8	NM_178170.3(NEK8):c.253+65G>A	noncoding	Benign
17	28734568	C	T	C28734568T	NEK8	NM_178170.3(NEK8):c.254-204C>T	noncoding	Benign
17	28740534	G	C	G28740534C	NEK8	NM_178170.3(NEK8):c.1489G>C:p.Ala497Pro	coding	Benign
17	28741004	C	A	C28741004A	NEK8	NM_178170.3(NEK8):c.1732+19C>A	noncoding	Benign
17	28741140	C	T	C28741140T	NEK8	NM_178170.3(NEK8):c.1795C>T:p.Arg599Ter	coding	Pathogenic
17	28856086	G	A	G28856086A	ERAL1	NM_005702.4(ERAL1):c.284-178G>A	noncoding	Benign
17	28856137	C	G	C28856137G	ERAL1	NM_005702.4(ERAL1):c.284-127C>G	noncoding	Benign
17	28856444	G	A	G28856444A	ERAL1	NM_005702.4(ERAL1):c.411+53G>A	noncoding	Benign
17	28858809	C	T	C28858809T	ERAL1	NM_005702.4(ERAL1):c.945C>T:p.Asp315=	coding	Benign
17	28860618	G	T	G28860618T	ERAL1	NM_005702.4(ERAL1):c.*65G>T	noncoding	Benign
17	28860771	C	T	C28860771T	ERAL1	NM_005702.4(ERAL1):c.*218C>T	noncoding	Benign
17	28957425	A	G	A28957425G	SEZ6	NM_178860.5(SEZ6):c.2417T>C:p.Met806Thr	coding	Benign
17	29249001	G	A	G29249001A	CRYBA1	NM_005208.5(CRYBA1):c.32-141G>A	noncoding	Benign
17	29249185	G	A	G29249185A	CRYBA1	NM_005208.5(CRYBA1):c.75G>A:p.Pro25=	coding	Benign
17	29249281	T	G	T29249281G	CRYBA1	NM_005208.5(CRYBA1):c.96+75T>G	noncoding	Benign
17	29249944	T	C	T29249944C	CRYBA1	NM_005208.5(CRYBA1):c.97-238T>C	noncoding	Benign
17	29250162	G	A	G29250162A	CRYBA1	NM_005208.5(CRYBA1):c.97-20G>A	noncoding	Benign
17	29250174	C	T	C29250174T	CRYBA1	NM_005208.5(CRYBA1):c.97-8C>T	noncoding	Benign/Likely_benign
17	29252033	A	G	A29252033G	CRYBA1	NM_005208.5(CRYBA1):c.216-31A>G	noncoding	Benign
17	29254256	T	C	T29254256C	CRYBA1	NM_005208.5(CRYBA1):c.555T>C:p.Cys185=	coding	Benign
17	29482259	G	A	G29482259A	TAOK1	NM_020791.4(TAOK1):c.626G>A:p.Trp209Ter	coding	Pathogenic
17	29502688	C	T	C29502688T	TAOK1	NM_020791.4(TAOK1):c.1303C>T:p.Arg435Ter	coding	Pathogenic/Likely_pathogenic
17	29510931	T	C	T29510931C	TAOK1	NM_020791.4(TAOK1):c.1643T>C:p.Leu548Pro	coding	Pathogenic
17	29530419	C	T	C29530419T	TAOK1	NM_020791.4(TAOK1):c.2161C>T:p.Gln721Ter	coding	Pathogenic
17	29534244	G	T	G29534244T	TAOK1	NM_020791.4(TAOK1):c.2488G>T:p.Glu830Ter	coding	Pathogenic
17	29534311	T	C	T29534311C	TAOK1	NM_020791.4(TAOK1):c.2544+11T>C	noncoding	Benign
17	30117165	A	C	A30117165C	NSRP1	NM_032141.4(NSRP1):c.20+302A>C	coding	Benign
17	30970892	C	G	C30970892G	RNF135	Single_allele	noncoding	Benign
17	30971286	C	G	C30971286G	RNF135	NM_032322.4(RNF135):c.213C>G:p.His71Gln	coding	Benign
17	30971395	T	C	T30971395C	RNF135	NM_032322.4(RNF135):c.322T>C:p.Ser108Pro	coding	Benign
17	30971433	G	T	G30971433T	RNF135	NM_032322.4(RNF135):c.360G>T:p.Pro120=	coding	Benign
17	30988175	G	C	G30988175C	RNF135	NM_032322.4(RNF135):c.679+69G>C	noncoding	Benign
17	30993757	A	T	A30993757T	RNF135	NM_032322.4(RNF135):c.680-3485A>T	noncoding	Benign
17	30997151	G	A	G30997151A	RNF135	NM_032322.4(RNF135):c.680-91G>A	noncoding	Benign
17	30999137	G	T	G30999137T	RNF135	NM_032322.4(RNF135):c.1245G>T:p.Trp415Cys	coding	Benign/Likely_benign
17	30999483	C	T	C30999483T	RNF135	NM_032322.4(RNF135):c.*292C>T	noncoding	Benign
17	31095336	G	A	G31095336A	NF1	NM_001042492.3(NF1):c.27G>A:p.Trp9Ter	coding	Pathogenic
17	31095370	G	A	G31095370A	NF1	NM_001042492.3(NF1):c.60+1G>A	coding	Pathogenic/Likely_pathogenic
17	31095371	T	C	T31095371C	NF1	NM_001042492.3(NF1):c.60+2T>C	noncoding	Pathogenic/Likely_pathogenic
17	31095385	C	A	C31095385A	NF1	NM_001042492.3(NF1):c.60+16C>A	noncoding	Benign
17	31104389	G	A	G31104389A	NF1	NM_001042492.3(NF1):c.60+9020G>A	noncoding	Benign
17	31155992	A	T	A31155992T	NF1	NM_001042492.3(NF1):c.70A>T:p.Lys24Ter	coding	Pathogenic
17	31156031	G	T	G31156031T	NF1	NM_001042492.3(NF1):c.109G>T:p.Glu37Ter	coding	Pathogenic
17	31156050	T	C	T31156050C	NF1	NM_001042492.3(NF1):c.128T>C:p.Leu43Pro	coding	Pathogenic/Likely_pathogenic
17	31156061	T	C	T31156061C	NF1	NM_001042492.3(NF1):c.139T>C:p.Ser47Pro	coding	Pathogenic
17	31156128	T	G	T31156128G	NF1	NM_001042492.3(NF1):c.204+2T>G	noncoding	Pathogenic/Likely_pathogenic
17	31159045	T	A	T31159045A	NF1	NM_001042492.3(NF1):c.240T>A:p.Tyr80Ter	coding	Pathogenic
17	31159050	C	A	C31159050A	NF1	NM_001042492.3(NF1):c.245C>A:p.Ser82Tyr	coding	Pathogenic
17	31159074	T	C	T31159074C	NF1	NM_001042492.3(NF1):c.269T>C:p.Leu90Pro	coding	Pathogenic/Likely_pathogenic
17	31163184	A	G	A31163184G	NF1	NM_001042492.3(NF1):c.289-2A>G	noncoding	Pathogenic
17	31163192	A	T	A31163192T	NF1	NM_001042492.3(NF1):c.295A>T:p.Lys99Ter	coding	Pathogenic
17	31163243	G	T	G31163243T	NF1	NM_001042492.3(NF1):c.346G>T:p.Glu116Ter	coding	Pathogenic
17	31163251	C	A	C31163251A	NF1	NM_001042492.3(NF1):c.354C>A:p.Cys118Ter	coding	Pathogenic
17	31163273	G	T	G31163273T	NF1	NM_001042492.3(NF1):c.376G>T:p.Glu126Ter	coding	Pathogenic
17	31163282	C	T	C31163282T	NF1	NM_001042492.3(NF1):c.385C>T:p.Gln129Ter	coding	Pathogenic
17	31163376	G	C	G31163376C	NF1	NM_001042492.3(NF1):c.479G>C:p.Arg160Thr	coding	Pathogenic/Likely_pathogenic
17	31163378	T	G	T31163378G	NF1	NM_001042492.3(NF1):c.479+2T>G	noncoding	Pathogenic
17	31169902	T	G	T31169902G	NF1	NM_001042492.3(NF1):c.491T>G:p.Leu164Ter	coding	Pathogenic
17	31169912	T	A	T31169912A	NF1	NM_001042492.3(NF1):c.501T>A:p.Cys167Ter	coding	Pathogenic
17	31169950	T	A	T31169950A	NF1	NM_001042492.3(NF1):c.539T>A:p.Leu180Ter	coding	Pathogenic
17	31169997	G	T	G31169997T	NF1	NM_001042492.3(NF1):c.586G>T:p.Glu196Ter	coding	Pathogenic
17	31169999	T	A	T31169999A	NF1	NM_001042492.3(NF1):c.586+2T>A	noncoding	Pathogenic
17	31181433	A	T	A31181433T	NF1	NM_001042492.3(NF1):c.598A>T:p.Lys200Ter	coding	Pathogenic
17	31181491	T	A	T31181491A	NF1	NM_001042492.3(NF1):c.654+2T>A	noncoding	Pathogenic
17	31181491	T	C	T31181491C	NF1	NM_001042492.3(NF1):c.654+2T>C	noncoding	Pathogenic
17	31181517	A	G	A31181517G	NF1	NM_001042492.3(NF1):c.654+28A>G	noncoding	Benign/Likely_benign
17	31181675	A	C	A31181675C	NF1	NM_001042492.3(NF1):c.655-35A>C	noncoding	Benign
17	31181688	A	C	A31181688C	NF1	NM_001042492.3(NF1):c.655-22A>C	noncoding	Benign
17	31181709	G	A	G31181709A	NF1	NM_001042492.3(NF1):c.655-1G>A	noncoding	Pathogenic
17	31182503	T	G	T31182503G	NF1	NM_001042492.3(NF1):c.731-5T>G	noncoding	Pathogenic
17	31182516	G	T	G31182516T	NF1	NM_001042492.3(NF1):c.739G>T:p.Glu247Ter	coding	Pathogenic
17	31182532	T	A	T31182532A	NF1	NM_001042492.3(NF1):c.755T>A:p.Leu252Ter	coding	Pathogenic
17	31182648	G	T	G31182648T	NF1	NM_001042492.3(NF1):c.871G>T:p.Glu291Ter	coding	Pathogenic
17	31183329	T	G	T31183329G	NF1	NM_001042492.3(NF1):c.888+664T>G	noncoding	Benign
17	31200420	A	T	A31200420T	NF1	NM_001042492.3(NF1):c.889-2A>T	noncoding	Pathogenic
17	31200422	A	T	A31200422T	NF1	NM_001042492.3(NF1):c.889A>T:p.Lys297Ter	coding	Pathogenic
17	31200485	G	T	G31200485T	NF1	NM_001042492.3(NF1):c.952G>T:p.Glu318Ter	coding	Pathogenic
17	31200521	G	C	G31200521C	NF1	NM_001042492.3(NF1):c.988G>C:p.Ala330Pro	coding	Pathogenic
17	31200541	G	A	G31200541A	NF1	NM_001042492.3(NF1):c.1008G>A:p.Trp336Ter	coding	Pathogenic
17	31201036	G	A	G31201036A	NF1	NM_001042492.3(NF1):c.1063-1G>A	noncoding	Pathogenic/Likely_pathogenic
17	31201036	G	C	G31201036C	NF1	NM_001042492.3(NF1):c.1063-1G>C	noncoding	Pathogenic/Likely_pathogenic
17	31201036	G	T	G31201036T	NF1	NM_001042492.3(NF1):c.1063-1G>T	noncoding	Pathogenic
17	31201405	C	T	C31201405T	NF1	NM_001042492.3(NF1):c.1186-6C>T	noncoding	Benign/Likely_benign
17	31201409	A	G	A31201409G	NF1	NM_001042492.3(NF1):c.1186-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	31201487	T	C	T31201487C	NF1	NM_001042492.3(NF1):c.1260+2T>C	noncoding	Pathogenic/Likely_pathogenic
17	31201487	T	G	T31201487G	NF1	NM_001042492.3(NF1):c.1260+2T>G	noncoding	Pathogenic/Likely_pathogenic
17	31206239	G	A	G31206239A	NF1	NM_001042492.3(NF1):c.1261-1G>A	noncoding	Pathogenic/Likely_pathogenic
17	31206239	G	T	G31206239T	NF1	NM_001042492.3(NF1):c.1261-1G>T	noncoding	Pathogenic
17	31206286	C	A	C31206286A	NF1	NM_001042492.3(NF1):c.1307C>A:p.Ser436Ter	coding	Pathogenic
17	31206853	A	G	A31206853G	NF1	NM_001042492.3(NF1):c.1392+482A>G	noncoding	Benign
17	31214449	A	G	A31214449G	NF1	NM_001042492.3(NF1):c.1393-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	31214484	A	G	A31214484G	NF1	NM_001042492.3(NF1):c.1426A>G:p.Lys476Glu	coding	Pathogenic
17	31214496	A	T	A31214496T	NF1	NM_001042492.3(NF1):c.1438A>T:p.Lys480Ter	coding	Pathogenic
17	31214539	T	A	T31214539A	NF1	NM_001042492.3(NF1):c.1481T>A:p.Leu494Ter	coding	Pathogenic
17	31214587	T	G	T31214587G	NF1	NM_001042492.3(NF1):c.1527+2T>G	noncoding	Pathogenic
17	31215744	C	T	C31215744T	NF1	NM_001042492.3(NF1):c.1527+1159C>T	noncoding	Pathogenic/Likely_pathogenic
17	31219116	G	T	G31219116T	NF1	NM_001042492.3(NF1):c.1639G>T:p.Glu547Ter	coding	Pathogenic
17	31219119	G	C	G31219119C	NF1	NM_001042492.3(NF1):c.1641+1G>C	coding	Pathogenic
17	31221872	T	G	T31221872G	NF1	NM_001042492.3(NF1):c.1664T>G:p.Leu555Ter	coding	Pathogenic
17	31221890	G	A	G31221890A	NF1	NM_001042492.3(NF1):c.1682G>A:p.Trp561Ter	coding	Pathogenic
17	31223443	G	A	G31223443A	NF1	NM_001042492.3(NF1):c.1722-1G>A	noncoding	Pathogenic/Likely_pathogenic
17	31223462	C	G	C31223462G	NF1	NM_001042492.3(NF1):c.1740C>G:p.Tyr580Ter	coding	Pathogenic
17	31223468	C	A	C31223468A	NF1	NM_001042492.3(NF1):c.1746C>A:p.Cys582Ter	coding	Pathogenic
17	31223469	A	T	A31223469T	NF1	NM_001042492.3(NF1):c.1747A>T:p.Lys583Ter	coding	Pathogenic
17	31223514	A	T	A31223514T	NF1	NM_001042492.3(NF1):c.1792A>T:p.Lys598Ter	coding	Pathogenic
17	31223567	G	A	G31223567A	NF1	NM_001042492.3(NF1):c.1845G>A:p.Lys615=	coding	Pathogenic
17	31224526	A	C	A31224526C	NF1	NM_001042492.3(NF1):c.1846-569A>C	noncoding	Pathogenic
17	31225150	T	C	T31225150C	NF1	NM_001042492.3(NF1):c.1901T>C:p.Ile634Thr	coding	Benign/Likely_benign
17	31225194	G	T	G31225194T	NF1	NM_001042492.3(NF1):c.1945G>T:p.Glu649Ter	coding	Pathogenic
17	31226105	A	G	A31226105G	NF1	NM_001042492.3(NF1):c.2002-330A>G	noncoding	Benign
17	31226433	A	C	A31226433C	NF1	NM_001042492.3(NF1):c.2002-2A>C	noncoding	Pathogenic/Likely_pathogenic
17	31226456	G	T	G31226456T	NF1	NM_001042492.3(NF1):c.2023G>T:p.Gly675Ter	coding	Pathogenic
17	31226520	G	A	G31226520A	NF1	NM_001042492.3(NF1):c.2087G>A:p.Trp696Ter	coding	Pathogenic
17	31226613	C	G	C31226613G	NF1	NM_001042492.3(NF1):c.2180C>G:p.Ser727Ter	coding	Pathogenic
17	31226638	T	A	T31226638A	NF1	NM_001042492.3(NF1):c.2205T>A:p.Tyr735Ter	coding	Pathogenic
17	31226679	C	G	C31226679G	NF1	NM_001042492.3(NF1):c.2246C>G:p.Ser749Ter	coding	Pathogenic
17	31226684	G	C	G31226684C	NF1	NM_001042492.3(NF1):c.2251G>C:p.Gly751Arg	coding	Pathogenic/Likely_pathogenic
17	31226686	T	G	T31226686G	NF1	NM_001042492.3(NF1):c.2251+2T>G	noncoding	Pathogenic/Likely_pathogenic
17	31227280	G	T	G31227280T	NF1	NM_001042492.3(NF1):c.2314G>T:p.Gly772Ter	coding	Pathogenic
17	31227522	G	T	G31227522T	NF1	NM_001042492.3(NF1):c.2326-1G>T	noncoding	Pathogenic
17	31227529	G	T	G31227529T	NF1	NM_001042492.3(NF1):c.2332G>T:p.Glu778Ter	coding	Pathogenic
17	31227547	T	C	T31227547C	NF1	NM_001042492.3(NF1):c.2350T>C:p.Trp784Arg	coding	Pathogenic/Likely_pathogenic
17	31227550	G	T	G31227550T	NF1	NM_001042492.3(NF1):c.2353G>T:p.Glu785Ter	coding	Pathogenic
17	31227579	T	A	T31227579A	NF1	NM_001042492.3(NF1):c.2382T>A:p.Tyr794Ter	coding	Pathogenic
17	31227595	G	T	G31227595T	NF1	NM_001042492.3(NF1):c.2398G>T:p.Glu800Ter	coding	Pathogenic
17	31229023	A	C	A31229023C	NF1	NM_001042492.3(NF1):c.2410-2A>C	noncoding	Pathogenic
17	31229023	A	G	A31229023G	NF1	NM_001042492.3(NF1):c.2410-2A>G	noncoding	Pathogenic
17	31229055	A	T	A31229055T	NF1	NM_001042492.3(NF1):c.2440A>T:p.Lys814Ter	coding	Pathogenic
17	31229124	T	G	T31229124G	NF1	NM_001042492.3(NF1):c.2509T>G:p.Trp837Gly	coding	Pathogenic
17	31229172	C	T	C31229172T	NF1	NM_001042492.3(NF1):c.2557C>T:p.Gln853Ter	coding	Pathogenic
17	31229178	A	T	A31229178T	NF1	NM_001042492.3(NF1):c.2563A>T:p.Arg855Ter	coding	Pathogenic
17	31229229	G	T	G31229229T	NF1	NM_001042492.3(NF1):c.2614G>T:p.Glu872Ter	coding	Pathogenic
17	31229263	C	A	C31229263A	NF1	NM_001042492.3(NF1):c.2648C>A:p.Ser883Ter	coding	Pathogenic
17	31229263	C	G	C31229263G	NF1	NM_001042492.3(NF1):c.2648C>G:p.Ser883Ter	coding	Pathogenic
17	31229265	G	T	G31229265T	NF1	NM_001042492.3(NF1):c.2650G>T:p.Glu884Ter	coding	Pathogenic
17	31229325	T	A	T31229325A	NF1	NM_001042492.3(NF1):c.2710T>A:p.Cys904Ser	coding	Pathogenic
17	31229367	A	T	A31229367T	NF1	NM_001042492.3(NF1):c.2752A>T:p.Lys918Ter	coding	Pathogenic
17	31229379	G	A	G31229379A	NF1	NM_001042492.3(NF1):c.2764G>A:p.Gly922Ser	coding	Pathogenic/Likely_pathogenic
17	31229833	A	T	A31229833T	NF1	NM_001042492.3(NF1):c.2851-2A>T	noncoding	Pathogenic
17	31229839	T	G	T31229839G	NF1	NM_001042492.3(NF1):c.2855T>G:p.Leu952Ter	coding	Pathogenic
17	31229842	T	A	T31229842A	NF1	NM_001042492.3(NF1):c.2858T>A:p.Leu953Ter	coding	Pathogenic
17	31229859	C	T	C31229859T	NF1	NM_001042492.3(NF1):c.2875C>T:p.Gln959Ter	coding	Pathogenic
17	31229913	G	T	G31229913T	NF1	NM_001042492.3(NF1):c.2929G>T:p.Glu977Ter	coding	Pathogenic
17	31229962	T	A	T31229962A	NF1	NM_001042492.3(NF1):c.2978T>A:p.Leu993Ter	coding	Pathogenic
17	31229962	T	G	T31229962G	NF1	NM_001042492.3(NF1):c.2978T>G:p.Leu993Ter	coding	Pathogenic/Likely_pathogenic
17	31229976	T	C	T31229976C	NF1	NM_001042492.3(NF1):c.2990+2T>C	noncoding	Pathogenic
17	31229979	G	A	G31229979A	NF1	NM_001042492.3(NF1):c.2990+5G>A	noncoding	Pathogenic/Likely_pathogenic
17	31230263	T	A	T31230263A	NF1	NM_001042492.3(NF1):c.2994T>A:p.Tyr998Ter	coding	Pathogenic
17	31230297	C	T	C31230297T	NF1	NM_001042492.3(NF1):c.3028C>T:p.Gln1010Ter	coding	Pathogenic
17	31230382	G	C	G31230382C	NF1	NM_001042492.3(NF1):c.3113G>C:p.Arg1038Thr	coding	Pathogenic
17	31230841	G	C	G31230841C	NF1	NM_001042492.3(NF1):c.3114-1G>C	noncoding	Pathogenic
17	31230860	C	A	C31230860A	NF1	NM_001042492.3(NF1):c.3132C>A:p.Tyr1044Ter	coding	Pathogenic
17	31230871	G	A	G31230871A	NF1	NM_001042492.3(NF1):c.3143G>A:p.Trp1048Ter	coding	Pathogenic
17	31230879	G	T	G31230879T	NF1	NM_001042492.3(NF1):c.3151G>T:p.Gly1051Ter	coding	Pathogenic
17	31230891	C	T	C31230891T	NF1	NM_001042492.3(NF1):c.3163C>T:p.Gln1055Ter	coding	Pathogenic
17	31230927	T	G	T31230927G	NF1	NM_001042492.3(NF1):c.3197+2T>G	noncoding	Pathogenic
17	31231212	G	A	G31231212A	NF1	NM_001042492.3(NF1):c.3197+287G>A	noncoding	Benign
17	31231275	T	G	T31231275G	NF1	NM_001042492.3(NF1):c.3197+350T>G	noncoding	Benign
17	31232114	T	C	T31232114C	NF1	NM_001042492.3(NF1):c.3239T>C:p.Leu1080Pro	coding	Pathogenic/Likely_pathogenic
17	31232126	C	G	C31232126G	NF1	NM_001042492.3(NF1):c.3251C>G:p.Pro1084Arg	coding	Pathogenic/Likely_pathogenic
17	31232131	C	T	C31232131T	NF1	NM_001042492.3(NF1):c.3256C>T:p.Gln1086Ter	coding	Pathogenic
17	31232137	G	T	G31232137T	NF1	NM_001042492.3(NF1):c.3262G>T:p.Glu1088Ter	coding	Pathogenic
17	31232153	T	A	T31232153A	NF1	NM_001042492.3(NF1):c.3278T>A:p.Val1093Glu	coding	Pathogenic
17	31232159	T	A	T31232159A	NF1	NM_001042492.3(NF1):c.3284T>A:p.Leu1095Ter	coding	Pathogenic
17	31232176	C	T	C31232176T	NF1	NM_001042492.3(NF1):c.3301C>T:p.Gln1101Ter	coding	Pathogenic
17	31232188	A	T	A31232188T	NF1	NM_001042492.3(NF1):c.3313A>T:p.Lys1105Ter	coding	Pathogenic/Likely_pathogenic
17	31232703	C	A	C31232703A	NF1	NM_001042492.3(NF1):c.3318C>A:p.Tyr1106Ter	coding	Pathogenic/Likely_pathogenic
17	31232703	C	G	C31232703G	NF1	NM_001042492.3(NF1):c.3318C>G:p.Tyr1106Ter	coding	Pathogenic
17	31232740	G	T	G31232740T	NF1	NM_001042492.3(NF1):c.3355G>T:p.Glu1119Ter	coding	Pathogenic
17	31232828	C	A	C31232828A	NF1	NM_001042492.3(NF1):c.3443C>A:p.Ala1148Glu	coding	Pathogenic
17	31232846	A	T	A31232846T	NF1	NM_001042492.3(NF1):c.3461A>T:p.Asn1154Ile	coding	Pathogenic/Likely_pathogenic
17	31232881	G	A	G31232881A	NF1	NM_001042492.3(NF1):c.3496G>A:p.Gly1166Ser	coding	Pathogenic/Likely_pathogenic
17	31232883	T	C	T31232883C	NF1	NM_001042492.3(NF1):c.3496+2T>C	noncoding	Pathogenic
17	31233001	G	A	G31233001A	NF1	NM_001042492.3(NF1):c.3497-1G>A	noncoding	Pathogenic/Likely_pathogenic
17	31233025	C	T	C31233025T	NF1	NM_001042492.3(NF1):c.3520C>T:p.Gln1174Ter	coding	Pathogenic
17	31233049	G	C	G31233049C	NF1	NM_001042492.3(NF1):c.3544G>C:p.Val1182Leu	coding	Pathogenic
17	31233049	G	T	G31233049T	NF1	NM_001042492.3(NF1):c.3544G>T:p.Val1182Phe	coding	Pathogenic
17	31233053	T	G	T31233053G	NF1	NM_001042492.3(NF1):c.3548T>G:p.Leu1183Arg	coding	Pathogenic
17	31233067	C	T	C31233067T	NF1	NM_001042492.3(NF1):c.3562C>T:p.Gln1188Ter	coding	Pathogenic
17	31233079	G	T	G31233079T	NF1	NM_001042492.3(NF1):c.3574G>T:p.Glu1192Ter	coding	Pathogenic
17	31233083	T	G	T31233083G	NF1	NM_001042492.3(NF1):c.3578T>G:p.Phe1193Cys	coding	Pathogenic
17	31233107	T	A	T31233107A	NF1	NM_001042492.3(NF1):c.3602T>A:p.Leu1201Ter	coding	Pathogenic
17	31233116	G	T	G31233116T	NF1	NM_001042492.3(NF1):c.3611G>T:p.Arg1204Leu	coding	Pathogenic
17	31233121	G	T	G31233121T	NF1	NM_001042492.3(NF1):c.3616G>T:p.Glu1206Ter	coding	Pathogenic
17	31233133	G	T	G31233133T	NF1	NM_001042492.3(NF1):c.3628G>T:p.Glu1210Ter	coding	Pathogenic
17	31233160	G	A	G31233160A	NF1	NM_001042492.3(NF1):c.3655G>A:p.Gly1219Arg	coding	Pathogenic
17	31233177	G	A	G31233177A	NF1	NM_001042492.3(NF1):c.3672G>A:p.Ala1224=	coding	Benign/Likely_benign
17	31233214	G	A	G31233214A	NF1	NM_001042492.3(NF1):c.3708+1G>A	coding	Pathogenic
17	31233214	G	C	G31233214C	NF1	NM_001042492.3(NF1):c.3708+1G>C	coding	Pathogenic
17	31235664	C	A	C31235664A	NF1	NM_001042492.3(NF1):c.3762C>A:p.Tyr1254Ter	coding	Pathogenic
17	31235698	G	T	G31235698T	NF1	NM_001042492.3(NF1):c.3796G>T:p.Glu1266Ter	coding	Pathogenic
17	31235746	A	C	A31235746C	NF1	NM_001042492.3(NF1):c.3844A>C:p.Ser1282Arg	coding	Pathogenic
17	31235917	G	A	G31235917A	NF1	NM_001042492.3(NF1):c.3871-1G>A	noncoding	Pathogenic/Likely_pathogenic
17	31235923	T	A	T31235923A	NF1	NM_001042492.3(NF1):c.3876T>A:p.Tyr1292Ter	coding	Pathogenic
17	31235923	T	G	T31235923G	NF1	NM_001042492.3(NF1):c.3876T>G:p.Tyr1292Ter	coding	Pathogenic
17	31235935	T	G	T31235935G	NF1	NM_001042492.3(NF1):c.3888T>G:p.Tyr1296Ter	coding	Pathogenic
17	31235961	T	A	T31235961A	NF1	NM_001042492.3(NF1):c.3914T>A:p.Leu1305Ter	coding	Pathogenic
17	31248785	A	G	A31248785G	NF1	NM_001042492.3(NF1):c.3975-199A>G	noncoding	Benign
17	31248983	G	A	G31248983A	NF1	NM_001042492.3(NF1):c.3975-1G>A	noncoding	Pathogenic
17	31249015	C	T	C31249015T	NF1	NM_001042492.3(NF1):c.4006C>T:p.Gln1336Ter	coding	Pathogenic
17	31249112	T	A	T31249112A	NF1	NM_001042492.3(NF1):c.4103T>A:p.Leu1368Ter	coding	Pathogenic
17	31249112	T	G	T31249112G	NF1	NM_001042492.3(NF1):c.4103T>G:p.Leu1368Ter	coding	Pathogenic
17	31258406	A	T	A31258406T	NF1	NM_001042492.3(NF1):c.4236A>T:p.Arg1412Ser	coding	Pathogenic/Likely_pathogenic
17	31258429	C	G	C31258429G	NF1	NM_001042492.3(NF1):c.4259C>G:p.Ser1420Ter	coding	Pathogenic
17	31258436	T	G	T31258436G	NF1	NM_001042492.3(NF1):c.4266T>G:p.Tyr1422Ter	coding	Pathogenic
17	31258470	A	T	A31258470T	NF1	NM_001042492.3(NF1):c.4300A>T:p.Arg1434Ter	coding	Pathogenic
17	31258491	T	G	T31258491G	NF1	NM_001042492.3(NF1):c.4321T>G:p.Leu1441Val	coding	Pathogenic
17	31258498	C	G	C31258498G	NF1	NM_001042492.3(NF1):c.4328C>G:p.Ser1443Ter	coding	Pathogenic
17	31259040	G	C	G31259040C	NF1	NM_001042492.3(NF1):c.4341G>C:p.Gln1447His	coding	Pathogenic/Likely_pathogenic
17	31259104	A	T	A31259104T	NF1	NM_001042492.3(NF1):c.4405A>T:p.Lys1469Ter	coding	Pathogenic
17	31260367	A	G	A31260367G	NF1	NM_001042492.3(NF1):c.4431-2A>G	noncoding	Pathogenic
17	31260470	T	C	T31260470C	NF1	NM_001042492.3(NF1):c.4532T>C:p.Leu1511Pro	coding	Pathogenic/Likely_pathogenic
17	31260473	G	A	G31260473A	NF1	NM_001042492.3(NF1):c.4535G>A:p.Trp1512Ter	coding	Pathogenic
17	31260494	G	A	G31260494A	NF1	NM_001042492.3(NF1):c.4556G>A:p.Gly1519Glu	coding	Pathogenic/Likely_pathogenic
17	31260501	T	G	T31260501G	NF1	NM_001042492.3(NF1):c.4563T>G:p.Tyr1521Ter	coding	Pathogenic
17	31260526	C	G	C31260526G	NF1	NM_001042492.3(NF1):c.4577+11C>G	noncoding	Benign/Likely_benign
17	31261751	G	C	G31261751C	NF1	NM_001042492.3(NF1):c.4618G>C:p.Ala1540Pro	coding	Pathogenic
17	31261809	G	A	G31261809A	NF1	NM_001042492.3(NF1):c.4676G>A:p.Trp1559Ter	coding	Pathogenic
17	31261835	A	T	A31261835T	NF1	NM_001042492.3(NF1):c.4702A>T:p.Lys1568Ter	coding	Pathogenic
17	31261859	T	G	T31261859G	NF1	NM_001042492.3(NF1):c.4724+2T>G	noncoding	Pathogenic/Likely_pathogenic
17	31265227	A	C	A31265227C	NF1	NM_001042492.3(NF1):c.4725-2A>C	noncoding	Pathogenic
17	31265227	A	G	A31265227G	NF1	NM_001042492.3(NF1):c.4725-2A>G	noncoding	Pathogenic
17	31265227	A	T	A31265227T	NF1	NM_001042492.3(NF1):c.4725-2A>T	noncoding	Pathogenic
17	31265257	A	T	A31265257T	NF1	NM_001042492.3(NF1):c.4753A>T:p.Lys1585Ter	coding	Pathogenic
17	31265286	C	A	C31265286A	NF1	NM_001042492.3(NF1):c.4782C>A:p.Tyr1594Ter	coding	Pathogenic
17	31265286	C	G	C31265286G	NF1	NM_001042492.3(NF1):c.4782C>G:p.Tyr1594Ter	coding	Pathogenic
17	31297359	T	G	T31297359G	NF1	NM_001042492.3(NF1):c.4836-28461T>G	coding	Benign
17	31318685	A	G	A31318685G	NF1	NM_014210.4(EVI2A):c.329T>C:p.Ile110Thr	coding	Benign
17	31325878	A	T	A31325878T	NF1	NM_001042492.3(NF1):c.4894A>T:p.Lys1632Ter	coding	Pathogenic
17	31325965	A	T	A31325965T	NF1	NM_001042492.3(NF1):c.4981A>T:p.Lys1661Ter	coding	Pathogenic
17	31325970	G	A	G31325970A	NF1	NM_001042492.3(NF1):c.4986G>A:p.Trp1662Ter	coding	Pathogenic
17	31326024	T	A	T31326024A	NF1	NM_001042492.3(NF1):c.5040T>A:p.Tyr1680Ter	coding	Pathogenic
17	31326024	T	C	T31326024C	NF1	NM_001042492.3(NF1):c.5040T>C:p.Tyr1680=	coding	Benign/Likely_benign
17	31326024	T	G	T31326024G	NF1	NM_001042492.3(NF1):c.5040T>G:p.Tyr1680Ter	coding	Pathogenic
17	31326051	C	A	C31326051A	NF1	NM_001042492.3(NF1):c.5067C>A:p.Tyr1689Ter	coding	Pathogenic
17	31326151	C	T	C31326151T	NF1	NM_001042492.3(NF1):c.5167C>T:p.Gln1723Ter	coding	Pathogenic
17	31326187	G	T	G31326187T	NF1	NM_001042492.3(NF1):c.5203G>T:p.Glu1735Ter	coding	Pathogenic
17	31326253	G	T	G31326253T	NF1	NM_001042492.3(NF1):c.5268+1G>T	coding	Pathogenic
17	31326254	T	C	T31326254C	NF1	NM_001042492.3(NF1):c.5268+2T>C	noncoding	Pathogenic
17	31326254	T	G	T31326254G	NF1	NM_001042492.3(NF1):c.5268+2T>G	noncoding	Pathogenic/Likely_pathogenic
17	31327500	T	G	T31327500G	NF1	NM_001042492.3(NF1):c.5270T>G:p.Val1757Gly	coding	Pathogenic
17	31327553	C	T	C31327553T	NF1	NM_001042492.3(NF1):c.5323C>T:p.Gln1775Ter	coding	Pathogenic
17	31327579	T	G	T31327579G	NF1	NM_001042492.3(NF1):c.5349T>G:p.Tyr1783Ter	coding	Pathogenic
17	31327587	C	A	C31327587A	NF1	NM_001042492.3(NF1):c.5357C>A:p.Ser1786Ter	coding	Pathogenic/Likely_pathogenic
17	31327589	G	T	G31327589T	NF1	NM_001042492.3(NF1):c.5359G>T:p.Glu1787Ter	coding	Pathogenic
17	31327632	T	G	T31327632G	NF1	NM_001042492.3(NF1):c.5402T>G:p.Leu1801Ter	coding	Pathogenic
17	31327646	C	T	C31327646T	NF1	NM_001042492.3(NF1):c.5416C>T:p.Gln1806Ter	coding	Pathogenic
17	31327682	G	T	G31327682T	NF1	NM_001042492.3(NF1):c.5452G>T:p.Glu1818Ter	coding	Pathogenic
17	31327694	C	T	C31327694T	NF1	NM_001042492.3(NF1):c.5464C>T:p.Gln1822Ter	coding	Pathogenic
17	31327806	T	G	T31327806G	NF1	NM_001042492.3(NF1):c.5576T>G:p.Leu1859Ter	coding	Pathogenic
17	31327815	T	A	T31327815A	NF1	NM_001042492.3(NF1):c.5585T>A:p.Leu1862Ter	coding	Pathogenic
17	31327815	T	G	T31327815G	NF1	NM_001042492.3(NF1):c.5585T>G:p.Leu1862Ter	coding	Pathogenic
17	31330294	A	G	A31330294G	NF1	NM_001042492.3(NF1):c.5610-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	31330294	A	T	A31330294T	NF1	NM_001042492.3(NF1):c.5610-2A>T	noncoding	Pathogenic/Likely_pathogenic
17	31330338	T	G	T31330338G	NF1	NM_001042492.3(NF1):c.5652T>G:p.Phe1884Leu	coding	Pathogenic
17	31330351	G	T	G31330351T	NF1	NM_001042492.3(NF1):c.5665G>T:p.Glu1889Ter	coding	Pathogenic
17	31330361	T	A	T31330361A	NF1	NM_001042492.3(NF1):c.5675T>A:p.Leu1892Ter	coding	Pathogenic
17	31330441	G	T	G31330441T	NF1	NM_001042492.3(NF1):c.5755G>T:p.Glu1919Ter	coding	Pathogenic
17	31330474	T	C	T31330474C	NF1	NM_001042492.3(NF1):c.5788T>C:p.Cys1930Arg	coding	Pathogenic/Likely_pathogenic
17	31330479	T	C	T31330479C	NF1	NM_001042492.3(NF1):c.5793T>C:p.Ile1931=	coding	Benign/Likely_benign
17	31333763	G	A	G31333763A	NF1	NM_001042492.3(NF1):c.5813-1075G>A	noncoding	Benign
17	31334795	A	G	A31334795G	NF1	NM_001042492.3(NF1):c.5813-43A>G	noncoding	Benign
17	31334837	G	A	G31334837A	NF1	NM_001042492.3(NF1):c.5813-1G>A	noncoding	Pathogenic/Likely_pathogenic
17	31334843	G	T	G31334843T	NF1	NM_001042492.3(NF1):c.5818G>T:p.Glu1940Ter	coding	Pathogenic
17	31335002	C	T	C31335002T	NF1	NM_001042492.3(NF1):c.5977C>T:p.Gln1993Ter	coding	Pathogenic
17	31335015	G	A	G31335015A	NF1	NM_001042492.3(NF1):c.5990G>A:p.Trp1997Ter	coding	Pathogenic
17	31335031	G	A	G31335031A	NF1	NM_001042492.3(NF1):c.6006G>A:p.Gln2002=	coding	Pathogenic/Likely_pathogenic
17	31335033	T	G	T31335033G	NF1	NM_001042492.3(NF1):c.6006+2T>G	noncoding	Pathogenic
17	31336348	G	C	G31336348C	NF1	NM_001042492.3(NF1):c.6022G>C:p.Asp2008His	coding	Pathogenic
17	31336473	G	A	G31336473A	NF1	NM_001042492.3(NF1):c.6147G>A:p.Lys2049_Val2050=	coding	Pathogenic
17	31336484	T	C	T31336484C	NF1	NM_001042492.3(NF1):c.6147+11T>C	noncoding	Benign/Likely_benign
17	31336606	T	A	T31336606A	NF1	NM_001042492.3(NF1):c.6148-29T>A	noncoding	Benign
17	31336607	T	A	T31336607A	NF1	NM_001042492.3(NF1):c.6148-28T>A	noncoding	Benign
17	31336633	A	G	A31336633G	NF1	NM_001042492.3(NF1):c.6148-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	31336634	G	C	G31336634C	NF1	NM_001042492.3(NF1):c.6148-1G>C	noncoding	Pathogenic/Likely_pathogenic
17	31336673	C	A	C31336673A	NF1	NM_001042492.3(NF1):c.6186C>A:p.Cys2062Ter	coding	Pathogenic
17	31336693	T	G	T31336693G	NF1	NM_001042492.3(NF1):c.6206T>G:p.Leu2069Ter	coding	Pathogenic
17	31336711	G	A	G31336711A	NF1	NM_001042492.3(NF1):c.6224G>A:p.Trp2075Ter	coding	Pathogenic
17	31336795	T	C	T31336795C	NF1	NM_001042492.3(NF1):c.6308T>C:p.Leu2103Pro	coding	Pathogenic
17	31336842	A	T	A31336842T	NF1	NM_001042492.3(NF1):c.6355A>T:p.Arg2119Ter	coding	Pathogenic/Likely_pathogenic
17	31336915	G	A	G31336915A	NF1	NM_001042492.3(NF1):c.6427+1G>A	coding	Pathogenic/Likely_pathogenic
17	31337413	T	A	T31337413A	NF1	NM_001042492.3(NF1):c.6473T>A:p.Leu2158Ter	coding	Pathogenic
17	31337520	A	T	A31337520T	NF1	NM_001042492.3(NF1):c.6580A>T:p.Arg2194Ter	coding	Pathogenic
17	31337817	A	C	A31337817C	NF1	NM_001042492.3(NF1):c.6643-2A>C	noncoding	Pathogenic
17	31337817	A	G	A31337817G	NF1	NM_001042492.3(NF1):c.6643-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	31337818	G	C	G31337818C	NF1	NM_001042492.3(NF1):c.6643-1G>C	noncoding	Pathogenic
17	31337845	C	A	C31337845A	NF1	NM_001042492.3(NF1):c.6669C>A:p.Cys2223Ter	coding	Pathogenic/Likely_pathogenic
17	31337858	C	T	C31337858T	NF1	NM_001042492.3(NF1):c.6682C>T:p.Gln2228Ter	coding	Pathogenic
17	31337862	G	A	G31337862A	NF1	NM_001042492.3(NF1):c.6686G>A:p.Trp2229Ter	coding	Pathogenic
17	31337879	A	T	A31337879T	NF1	NM_001042492.3(NF1):c.6703A>T:p.Arg2235Ter	coding	Pathogenic
17	31338023	A	G	A31338023G	NF1	NM_001042492.3(NF1):c.6705-2A>G	noncoding	Pathogenic
17	31338040	T	G	T31338040G	NF1	NM_001042492.3(NF1):c.6720T>G:p.Tyr2240Ter	coding	Pathogenic
17	31338150	C	T	C31338150T	NF1	NM_001042492.3(NF1):c.6819+11C>T	noncoding	Benign/Likely_benign
17	31338702	A	C	A31338702C	NF1	NM_001042492.3(NF1):c.6820-2A>C	noncoding	Pathogenic
17	31338710	G	T	G31338710T	NF1	NM_001042492.3(NF1):c.6826G>T:p.Glu2276Ter	coding	Pathogenic
17	31338807	T	C	T31338807C	NF1	NM_001042492.3(NF1):c.6921+2T>C	noncoding	Pathogenic
17	31340503	A	T	A31340503T	NF1	NM_001042492.3(NF1):c.6922-2A>T	noncoding	Pathogenic
17	31340509	C	A	C31340509A	NF1	NM_001042492.3(NF1):c.6926C>A:p.Ser2309Ter	coding	Pathogenic
17	31340572	T	A	T31340572A	NF1	NM_001042492.3(NF1):c.6989T>A:p.Leu2330Ter	coding	Pathogenic
17	31340576	T	A	T31340576A	NF1	NM_001042492.3(NF1):c.6993T>A:p.Tyr2331Ter	coding	Pathogenic
17	31340596	T	C	T31340596C	NF1	NM_001042492.3(NF1):c.7013T>C:p.Leu2338Pro	coding	Pathogenic
17	31340643	A	T	A31340643T	NF1	NM_001042492.3(NF1):c.7060A>T:p.Lys2354Ter	coding	Pathogenic
17	31343018	G	T	G31343018T	NF1	NM_001042492.3(NF1):c.7072G>T:p.Glu2358Ter	coding	Pathogenic
17	31343052	G	A	G31343052A	NF1	NM_001042492.3(NF1):c.7106G>A:p.Trp2369Ter	coding	Pathogenic
17	31343092	C	G	C31343092G	NF1	NM_001042492.3(NF1):c.7146C>G:p.Phe2382Leu	coding	Pathogenic
17	31349135	C	G	C31349135G	NF1	NM_001042492.3(NF1):c.7205C>G:p.Ser2402Ter	coding	Pathogenic
17	31349177	T	C	T31349177C	NF1	NM_001042492.3(NF1):c.7247T>C:p.Leu2416Pro	coding	Pathogenic
17	31349230	C	T	C31349230T	NF1	NM_001042492.3(NF1):c.7300C>T:p.Gln2434Ter	coding	Pathogenic
17	31349246	T	G	T31349246G	NF1	NM_001042492.3(NF1):c.7316T>G:p.Leu2439Ter	coding	Pathogenic
17	31350167	A	G	A31350167G	NF1	NM_001042492.3(NF1):c.7322-16A>G	noncoding	Benign/Likely_benign
17	31350186	T	A	T31350186A	NF1	NM_001042492.3(NF1):c.7325T>A:p.Leu2442Ter	coding	Pathogenic
17	31350186	T	G	T31350186G	NF1	NM_001042492.3(NF1):c.7325T>G:p.Leu2442Ter	coding	Pathogenic
17	31350220	C	A	C31350220A	NF1	NM_001042492.3(NF1):c.7359C>A:p.Cys2453Ter	coding	Pathogenic
17	31350266	G	T	G31350266T	NF1	NM_001042492.3(NF1):c.7405G>T:p.Glu2469Ter	coding	Pathogenic
17	31352303	G	T	G31352303T	NF1	NM_001042492.3(NF1):c.7504G>T:p.Gly2502Ter	coding	Pathogenic
17	31352323	T	G	T31352323G	NF1	NM_001042492.3(NF1):c.7524T>G:p.Tyr2508Ter	coding	Pathogenic
17	31352353	C	G	C31352353G	NF1	NM_001042492.3(NF1):c.7554C>G:p.Ala2518=	coding	Benign/Likely_benign
17	31352414	G	T	G31352414T	NF1	NM_001042492.3(NF1):c.7615G>T:p.Gly2539Ter	coding	Pathogenic
17	31356172	G	T	G31356172T	NF1	NM_001042492.3(NF1):c.7616-288G>T	noncoding	Benign
17	31356507	A	T	A31356507T	NF1	NM_001042492.3(NF1):c.7663A>T:p.Lys2555Ter	coding	Pathogenic
17	31356526	C	A	C31356526A	NF1	NM_001042492.3(NF1):c.7682C>A:p.Ser2561Ter	coding	Pathogenic
17	31356526	C	G	C31356526G	NF1	NM_001042492.3(NF1):c.7682C>G:p.Ser2561Ter	coding	Pathogenic
17	31356955	T	C	T31356955C	NF1	NM_001042492.3(NF1):c.7739-5T>C	noncoding	Benign/Likely_benign
17	31356958	A	G	A31356958G	NF1	NM_001042492.3(NF1):c.7739-2A>G	noncoding	Pathogenic
17	31357004	A	T	A31357004T	NF1	NM_001042492.3(NF1):c.7783A>T:p.Lys2595Ter	coding	Pathogenic
17	31357092	T	A	T31357092A	NF1	NM_001042492.3(NF1):c.7869+2T>A	noncoding	Pathogenic
17	31357092	T	C	T31357092C	NF1	NM_001042492.3(NF1):c.7869+2T>C	noncoding	Pathogenic
17	31357264	G	C	G31357264C	NF1	NM_001042492.3(NF1):c.7870-5G>C	noncoding	Benign
17	31357267	A	C	A31357267C	NF1	NM_001042492.3(NF1):c.7870-2A>C	noncoding	Pathogenic
17	31357268	G	C	G31357268C	NF1	NM_001042492.3(NF1):c.7870-1G>C	noncoding	Pathogenic
17	31358478	A	G	A31358478G	NF1	NM_001042492.3(NF1):c.7971-2A>G	noncoding	Pathogenic
17	31358479	G	A	G31358479A	NF1	NM_001042492.3(NF1):c.7971-1G>A	noncoding	Pathogenic
17	31358565	C	T	C31358565T	NF1	NM_001042492.3(NF1):c.8056C>T:p.Gln2686Ter	coding	Pathogenic
17	31358598	C	T	C31358598T	NF1	NM_001042492.3(NF1):c.8089C>T:p.Gln2697Ter	coding	Pathogenic
17	31358624	T	G	T31358624G	NF1	NM_001042492.3(NF1):c.8113+2T>G	noncoding	Pathogenic/Likely_pathogenic
17	31358899	A	T	A31358899T	NF1	NM_001042492.3(NF1):c.8114-70A>T	noncoding	Benign/Likely_benign
17	31358968	G	A	G31358968A	NF1	NM_001042492.3(NF1):c.8114-1G>A	noncoding	Pathogenic
17	31374146	G	A	G31374146A	NF1	NM_001042492.3(NF1):c.8511G>A:p.Lys2837=	coding	Benign/Likely_benign
17	31937402	C	G	C31937402G	SUZ12	NM_015355.4(SUZ12):c.156C>G:p.Tyr52Ter	coding	Pathogenic
17	31937793	G	A	G31937793A	SUZ12	NM_015355.4(SUZ12):c.274+273G>A	noncoding	Benign
17	31940487	G	A	G31940487A	SUZ12	NM_015355.4(SUZ12):c.386+1G>A	coding	Pathogenic
17	31998674	C	T	C31998674T	SUZ12	NM_015355.4(SUZ12):c.1891C>T:p.Gln631Ter	coding	Pathogenic
17	34580843	G	A	G34580843A	TMEM132E	NM_001304438.2(TMEM132E):c.-234G>A	noncoding	Benign
17	34581017	C	T	C34581017T	TMEM132E	NM_001304438.2(TMEM132E):c.-60C>T	noncoding	Benign
17	34581045	T	C	T34581045C	TMEM132E	NM_001304438.2(TMEM132E):c.-32T>C	noncoding	Benign
17	34581191	T	C	T34581191C	TMEM132E	NM_001304438.2(TMEM132E):c.67+48T>C	noncoding	Benign
17	34581198	G	A	G34581198A	TMEM132E	NM_001304438.2(TMEM132E):c.67+55G>A	noncoding	Benign
17	34625985	G	A	G34625985A	TMEM132E	NM_001304438.2(TMEM132E):c.68-142G>A	noncoding	Benign
17	34626239	G	A	G34626239A	TMEM132E	NM_001304438.2(TMEM132E):c.180G>A:p.Glu60=	coding	Benign
17	34626316	A	C	A34626316C	TMEM132E	NM_001304438.2(TMEM132E):c.257A>C:p.Glu86Ala	coding	Benign/Likely_benign
17	34627033	C	G	C34627033G	TMEM132E	NM_001304438.2(TMEM132E):c.974C>G:p.Pro325Arg	coding	Benign
17	34628444	G	A	G34628444A	TMEM132E	NM_001304438.2(TMEM132E):c.999-119G>A	noncoding	Benign
17	34628636	C	T	C34628636T	TMEM132E	NM_001304438.2(TMEM132E):c.1072C>T:p.Leu358=	coding	Benign
17	34629087	G	C	G34629087C	TMEM132E	NM_001304438.2(TMEM132E):c.1221G>C:p.Arg407=	coding	Benign
17	34629267	G	A	G34629267A	TMEM132E	NM_001304438.2(TMEM132E):c.1338+63G>A	noncoding	Benign
17	34629936	T	C	T34629936C	TMEM132E	NM_001304438.2(TMEM132E):c.1339-72T>C	noncoding	Benign
17	34629991	C	G	C34629991G	TMEM132E	NM_001304438.2(TMEM132E):c.1339-17C>G	noncoding	Benign
17	34629992	C	T	C34629992T	TMEM132E	NM_001304438.2(TMEM132E):c.1339-16C>T	noncoding	Benign
17	34634620	A	T	A34634620T	TMEM132E	NM_001304438.2(TMEM132E):c.1689-179A>T	noncoding	Benign
17	34634732	C	A	C34634732A	TMEM132E	NM_001304438.2(TMEM132E):c.1689-67C>A	noncoding	Benign
17	34634842	C	T	C34634842T	TMEM132E	NM_001304438.2(TMEM132E):c.1732C>T:p.Arg578Trp	coding	Benign
17	34635741	C	A	C34635741A	TMEM132E	NM_001304438.2(TMEM132E):c.1978-266C>A	noncoding	Benign
17	34636381	G	C	G34636381C	TMEM132E	NM_001304438.2(TMEM132E):c.2169+183G>C	noncoding	Benign
17	34637624	C	T	C34637624T	TMEM132E	NM_001304438.2(TMEM132E):c.2617C>T:p.Leu873=	coding	Benign
17	34637878	G	T	G34637878T	TMEM132E	NM_001304438.2(TMEM132E):c.2871G>T:p.Pro957=	coding	Benign
17	34637950	C	T	C34637950T	TMEM132E	NM_001304438.2(TMEM132E):c.2943C>T:p.Ser981=	coding	Benign
17	34637956	G	T	G34637956T	TMEM132E	NM_001304438.2(TMEM132E):c.2949G>T:p.Val983=	coding	Benign
17	34638142	T	C	T34638142C	TMEM132E	NM_001304438.2(TMEM132E):c.3135T>C:p.Gly1045=	coding	Benign
17	34638266	C	A	C34638266A	TMEM132E	NM_001304438.2(TMEM132E):c.*34C>A	noncoding	Benign
17	34983091	G	A	G34983091A	LIG3	NM_013975.4(LIG3):c.86G>A:p.Trp29Ter	coding	Pathogenic
17	34989573	C	T	C34989573T	LIG3	NM_013975.4(LIG3):c.799C>T:p.Arg267Ter	coding	Pathogenic
17	34991125	C	T	C34991125T	LIG3	NM_013975.4(LIG3):c.1041+11C>T	noncoding	Benign
17	34994431	G	C	G34994431C	LIG3	NM_013975.4(LIG3):c.1611G>C:p.Lys537Asn	coding	Pathogenic
17	34994640	G	A	G34994640A	LIG3	NM_013975.4(LIG3):c.1611+209G>A	noncoding	Pathogenic
17	34997740	C	T	C34997740T	LIG3	NM_013975.4(LIG3):c.1826C>T:p.Pro609Leu	coding	Pathogenic
17	35001356	C	T	C35001356T	LIG3	NM_013975.4(LIG3):c.2431C>T:p.Arg811Ter	coding	Pathogenic
17	35004366	G	C	G35004366C	LIG3	NM_013975.4(LIG3):c.2890G>C:p.Gly964Arg	coding	Pathogenic
17	35004472	G	A	G35004472A	LIG3	NM_013975.4(LIG3):c.2996G>A:p.Cys999Tyr	coding	Pathogenic
17	35100823	T	G	T35100823G	RAD51D	NM_002878.4(RAD51D):c.*130A>C	noncoding	Benign
17	35101047	A	T	A35101047T	RAD51D	NM_002878.4(RAD51D):c.904-11T>A	noncoding	Benign/Likely_benign
17	35101312	G	C	G35101312C	RAD51D	NM_002878.4(RAD51D):c.792C>G:p.Leu264=	coding	Benign/Likely_benign
17	35101375	A	G	A35101375G	RAD51D	NM_002878.4(RAD51D):c.739-10T>C	noncoding	Benign/Likely_benign
17	35101468	A	G	A35101468G	RAD51D	NM_002878.4(RAD51D):c.739-103T>C	noncoding	Benign
17	35103240	G	A	G35103240A	RAD51D	NM_002878.4(RAD51D):c.738+14C>T	noncoding	Benign/Likely_benign
17	35106388	G	A	G35106388A	RAD51D	NM_002878.4(RAD51D):c.574C>T:p.Gln192Ter	coding	Pathogenic
17	35106412	C	A	C35106412A	RAD51D	NM_002878.4(RAD51D):c.550G>T:p.Glu184Ter	coding	Pathogenic
17	35106460	G	A	G35106460A	RAD51D	NM_002878.4(RAD51D):c.502C>T:p.Gln168Ter	coding	Pathogenic
17	35106561	C	A	C35106561A	RAD51D	NM_002878.4(RAD51D):c.481-80G>T	noncoding	Benign
17	35106686	T	C	T35106686C	RAD51D	NM_002878.4(RAD51D):c.481-205A>G	noncoding	Benign
17	35106913	A	C	A35106913C	RAD51D	NM_002878.4(RAD51D):c.480+75T>G	noncoding	Benign
17	35107080	G	A	G35107080A	RAD51D	NM_002878.4(RAD51D):c.388C>T:p.Gln130Ter	coding	Pathogenic
17	35107132	G	A	G35107132A	RAD51D	NM_002878.4(RAD51D):c.346-10C>T	noncoding	Benign/Likely_benign
17	35107410	C	A	C35107410A	RAD51D	NM_002878.4(RAD51D):c.301G>T:p.Glu101Ter	coding	Pathogenic
17	35116913	T	C	T35116913C	RAD51D	NM_002878.4(RAD51D):c.263+1588A>G	coding	Benign/Likely_benign
17	35117027	G	A	G35117027A	RAD51D	NM_002878.4(RAD51D):c.263+1474C>T	coding	Benign/Likely_benign
17	35118633	C	G	C35118633G	RAD51D	NM_002878.4(RAD51D):c.145-14G>C	noncoding	Benign/Likely_benign
17	35119110	C	A	C35119110A	RAD51D	NM_002878.4(RAD51D):c.144+1G>T	noncoding	Pathogenic
17	35119134	G	A	G35119134A	RAD51D	NM_002878.4(RAD51D):c.121C>T:p.Gln41Ter	coding	Pathogenic
17	35119192	A	G	A35119192G	RAD51D	NM_002878.4(RAD51D):c.83-20T>C	noncoding	Benign/Likely_benign
17	35119651	C	A	C35119651A	RAD51D	NM_002878.4(RAD51D):c.-38G>T	noncoding	Benign
17	35120008	C	T	C35120008T	RAD51D	Single_allele	noncoding	Benign
17	35148982	G	A	G35148982A	UNC45B	NM_001267052.2(UNC45B):c.178G>A:p.Val60Ile	coding	Benign
17	35150240	C	T	C35150240T	UNC45B	NM_001267052.2(UNC45B):c.381+17C>T	noncoding	Benign
17	35154268	A	T	A35154268T	UNC45B	NM_001267052.2(UNC45B):c.472-306A>T	noncoding	Benign
17	35155226	C	T	C35155226T	UNC45B	NM_001267052.2(UNC45B):c.640-70C>T	noncoding	Benign
17	35155468	G	C	G35155468C	UNC45B	NM_001267052.2(UNC45B):c.808+4G>C	noncoding	Benign
17	35155503	G	A	G35155503A	UNC45B	NM_001267052.2(UNC45B):c.808+39G>A	noncoding	Benign
17	35159172	G	A	G35159172A	UNC45B	NM_001267052.2(UNC45B):c.809-203G>A	noncoding	Benign
17	35163744	G	A	G35163744A	UNC45B	NM_001267052.2(UNC45B):c.980-251G>A	noncoding	Benign
17	35163815	G	C	G35163815C	UNC45B	NM_001267052.2(UNC45B):c.980-180G>C	noncoding	Benign
17	35163972	G	A	G35163972A	UNC45B	NM_001267052.2(UNC45B):c.980-23G>A	noncoding	Benign
17	35164155	G	A	G35164155A	UNC45B	NM_001267052.2(UNC45B):c.1140G>A:p.Glu380=	coding	Benign
17	35164324	A	G	A35164324G	UNC45B	NM_001267052.2(UNC45B):c.1151+158A>G	noncoding	Benign
17	35164433	A	G	A35164433G	UNC45B	NM_001267052.2(UNC45B):c.1151+267A>G	noncoding	Benign
17	35168116	T	C	T35168116C	UNC45B	NM_001267052.2(UNC45B):c.1207T>C:p.Ser403Pro	coding	Pathogenic
17	35169738	G	A	G35169738A	UNC45B	NM_001267052.2(UNC45B):c.1453-99G>A	noncoding	Benign
17	35169924	T	C	T35169924C	UNC45B	NM_001267052.2(UNC45B):c.1540T>C:p.Cys514Arg	coding	Pathogenic
17	35170031	C	T	C35170031T	UNC45B	NM_001267052.2(UNC45B):c.1548-83C>T	noncoding	Benign
17	35170312	A	G	A35170312G	UNC45B	NM_001267052.2(UNC45B):c.1689+57A>G	noncoding	Benign
17	35171420	C	T	C35171420T	UNC45B	NM_001267052.2(UNC45B):c.1788C>T:p.Leu596=	coding	Benign
17	35171623	A	C	A35171623C	UNC45B	NM_001267052.2(UNC45B):c.1830+161A>C	noncoding	Benign
17	35171777	C	G	C35171777G	UNC45B	NM_001267052.2(UNC45B):c.1830+315C>G	noncoding	Benign
17	35173960	C	T	C35173960T	UNC45B	NM_001267052.2(UNC45B):c.1831-282C>T	noncoding	Benign
17	35173969	G	A	G35173969A	UNC45B	NM_001267052.2(UNC45B):c.1831-273G>A	noncoding	Benign
17	35173972	T	C	T35173972C	UNC45B	NM_001267052.2(UNC45B):c.1831-270T>C	noncoding	Benign
17	35174413	C	T	C35174413T	UNC45B	NM_001267052.2(UNC45B):c.1958+44C>T	noncoding	Benign
17	35175715	A	G	A35175715G	UNC45B	NM_001267052.2(UNC45B):c.1959-253A>G	noncoding	Benign
17	35175859	C	T	C35175859T	UNC45B	NM_001267052.2(UNC45B):c.1959-109C>T	noncoding	Benign
17	35175918	G	A	G35175918A	UNC45B	NM_001267052.2(UNC45B):c.1959-50G>A	noncoding	Benign
17	35176100	T	C	T35176100C	UNC45B	NM_001267052.2(UNC45B):c.2025+66T>C	noncoding	Benign
17	35176322	C	T	C35176322T	UNC45B	NM_001267052.2(UNC45B):c.2025+288C>T	noncoding	Benign
17	35176903	G	A	G35176903A	UNC45B	NM_001267052.2(UNC45B):c.2026-114G>A	noncoding	Benign
17	35177129	G	A	G35177129A	UNC45B	NM_001267052.2(UNC45B):c.2138G>A:p.Arg713Gln	coding	Benign
17	35177175	T	C	T35177175C	UNC45B	NM_001267052.2(UNC45B):c.2139+45T>C	noncoding	Benign
17	35177615	G	C	G35177615C	UNC45B	NM_001267052.2(UNC45B):c.2255+5G>C	noncoding	Pathogenic
17	35177697	T	C	T35177697C	UNC45B	NM_001267052.2(UNC45B):c.2255+87T>C	noncoding	Benign
17	35177790	C	T	C35177790T	UNC45B	NM_001267052.2(UNC45B):c.2255+180C>T	noncoding	Benign
17	35180604	C	T	C35180604T	UNC45B	NM_001267052.2(UNC45B):c.2301C>T:p.Tyr767=	coding	Benign
17	35180629	C	T	C35180629T	UNC45B	NM_001267052.2(UNC45B):c.2326C>T:p.Arg776Trp	coding	Pathogenic
17	35180654	G	A	G35180654A	UNC45B	NM_001267052.2(UNC45B):c.2351G>A:p.Cys784Tyr	coding	Benign
17	35180909	G	A	G35180909A	UNC45B	NM_001267052.2(UNC45B):c.2373+233G>A	noncoding	Benign
17	35183216	G	A	G35183216A	UNC45B	NM_001267052.2(UNC45B):c.2374-211G>A	noncoding	Benign
17	35183304	G	C	G35183304C	UNC45B	NM_001267052.2(UNC45B):c.2374-123G>C	noncoding	Benign
17	35183637	A	G	A35183637G	UNC45B	NM_001267052.2(UNC45B):c.2529+55A>G	noncoding	Benign
17	35186572	A	C	A35186572C	UNC45B	NM_001267052.2(UNC45B):c.*13A>C	noncoding	Benign
17	35186630	A	G	A35186630G	UNC45B	NM_001267052.2(UNC45B):c.*71A>G	noncoding	Benign
17	35444977	G	A	G35444977A	SLFN13	NM_144682.6(SLFN13):c.704C>T:p.Ser235Phe	coding	Benign
17	35548243	T	A	T35548243A	SLFN14	NM_001129820.2(SLFN14):c.2735A>T:p.Tyr912Phe	coding	Benign
17	35548265	G	A	G35548265A	SLFN14	NM_001129820.2(SLFN14):c.2713C>T:p.Leu905Phe	coding	Benign
17	35553051	C	T	C35553051T	SLFN14	NM_001129820.2(SLFN14):c.1583G>A:p.Arg528His	coding	Benign
17	35553286	T	C	T35553286C	SLFN14	NM_001129820.2(SLFN14):c.1348A>G:p.Lys450Glu	coding	Benign
17	35554434	T	G	T35554434G	SLFN14	NM_001129820.2(SLFN14):c.1189+142A>C	noncoding	Benign
17	35554612	T	C	T35554612C	SLFN14	NM_001129820.2(SLFN14):c.1153A>G:p.Lys385Glu	coding	Benign
17	35554699	G	A	G35554699A	SLFN14	NM_001129820.2(SLFN14):c.1066C>T:p.Pro356Ser	coding	Benign
17	35554715	A	G	A35554715G	SLFN14	NM_001129820.2(SLFN14):c.1061-11T>C	noncoding	Benign
17	35554888	C	G	C35554888G	SLFN14	NM_001129820.2(SLFN14):c.1061-184G>C	noncoding	Benign
17	35557785	T	C	T35557785C	SLFN14	NM_001129820.2(SLFN14):c.278A>G:p.Gln93Arg	coding	Benign
17	35575903	G	A	G35575903A	PEX12	NM_000286.3(PEX12):c.959C>T:p.Ser320Phe	coding	Pathogenic/Likely_pathogenic
17	35575967	T	A	T35575967A	PEX12	NM_000286.3(PEX12):c.895A>T:p.Lys299Ter	coding	Pathogenic
17	35576067	G	C	G35576067C	PEX12	NM_000286.3(PEX12):c.795C>G:p.Tyr265Ter	coding	Pathogenic
17	35576867	A	G	A35576867G	PEX12	NM_000286.3(PEX12):c.680+171T>C	noncoding	Benign
17	35577200	C	T	C35577200T	PEX12	NM_000286.3(PEX12):c.518G>A:p.Trp173Ter	coding	Pathogenic
17	35577376	C	T	C35577376T	PEX12	NM_000286.3(PEX12):c.342G>A:p.Trp114Ter	coding	Pathogenic
17	35577387	G	A	G35577387A	PEX12	NM_000286.3(PEX12):c.331C>T:p.Gln111Ter	coding	Pathogenic
17	35577496	A	T	A35577496T	PEX12	NM_000286.3(PEX12):c.222T>A:p.Tyr74Ter	coding	Pathogenic/Likely_pathogenic
17	35577507	G	A	G35577507A	PEX12	NM_000286.3(PEX12):c.211C>T:p.Gln71Ter	coding	Pathogenic/Likely_pathogenic
17	35578726	C	T	C35578726T	PEX12	Single_allele	noncoding	Benign
17	35744628	C	T	C35744628T	GAS2L2	NM_139285.4(GAS2L2):c.*226G>A	noncoding	Benign
17	35744833	T	A	T35744833A	GAS2L2	NM_139285.4(GAS2L2):c.*21A>T	noncoding	Benign
17	35745012	G	A	G35745012A	GAS2L2	NM_139285.4(GAS2L2):c.2485C>T:p.Arg829Trp	coding	Benign
17	35745500	A	G	A35745500G	GAS2L2	NM_139285.4(GAS2L2):c.1997T>C:p.Leu666Pro	coding	Benign
17	35745536	G	A	G35745536A	GAS2L2	NM_139285.4(GAS2L2):c.1961C>T:p.Ala654Val	coding	Benign
17	35745879	C	T	C35745879T	GAS2L2	NM_139285.4(GAS2L2):c.1618G>A:p.Ala540Thr	coding	Benign
17	35746282	C	T	C35746282T	GAS2L2	NM_139285.4(GAS2L2):c.1215G>A:p.Glu405=	coding	Benign
17	35746384	A	G	A35746384G	GAS2L2	NM_139285.4(GAS2L2):c.1113T>C:p.Ser371=	coding	Benign
17	35748110	A	G	A35748110G	GAS2L2	NM_139285.4(GAS2L2):c.736-165T>C	noncoding	Benign
17	35750213	G	A	G35750213A	GAS2L2	NM_139285.4(GAS2L2):c.491C>T:p.Ala164Val	coding	Benign
17	35750409	A	C	A35750409C	GAS2L2	NM_139285.4(GAS2L2):c.386-91T>G	noncoding	Benign
17	35750440	C	T	C35750440T	GAS2L2	NM_139285.4(GAS2L2):c.386-122G>A	noncoding	Benign
17	35752952	G	A	G35752952A	GAS2L2	NM_139285.4(GAS2L2):c.-102C>T	noncoding	Benign
17	35753046	C	A	C35753046A	GAS2L2	NM_139285.4(GAS2L2):c.-196G>T	noncoding	Benign
17	35817456	A	G	A35817456G	TAF15	NM_139215.3(TAF15):c.8-260A>G	noncoding	Benign
17	35819814	C	A	C35819814A	TAF15	NM_139215.3(TAF15):c.48-210C>A	noncoding	Benign
17	35822498	A	G	A35822498G	TAF15	NM_139215.3(TAF15):c.291-142A>G	noncoding	Benign
17	35822556	G	A	G35822556A	TAF15	NM_139215.3(TAF15):c.291-84G>A	noncoding	Benign
17	35823900	G	C	G35823900C	TAF15	NM_139215.3(TAF15):c.485-178G>C	noncoding	Benign
17	35823971	G	A	G35823971A	TAF15	NM_139215.3(TAF15):c.485-107G>A	noncoding	Benign
17	35833760	C	T	C35833760T	TAF15	NM_139215.3(TAF15):c.606-147C>T	noncoding	Benign
17	35834277	G	A	G35834277A	TAF15	NM_139215.3(TAF15):c.641-289G>A	noncoding	Benign
17	35834585	C	T	C35834585T	TAF15	NM_139215.3(TAF15):c.660C>T:p.Pro220=	coding	Benign
17	35836184	G	A	G35836184A	TAF15	NM_139215.3(TAF15):c.726G>A:p.Gly242=	coding	Benign/Likely_benign
17	35836383	G	C	G35836383C	TAF15	NM_139215.3(TAF15):c.783+142G>C	noncoding	Benign
17	35836393	T	A	T35836393A	TAF15	NM_139215.3(TAF15):c.783+152T>A	noncoding	Benign
17	35836561	G	A	G35836561A	TAF15	NM_139215.3(TAF15):c.783+320G>A	noncoding	Benign
17	35842151	G	A	G35842151A	TAF15	NM_139215.3(TAF15):c.914-216G>A	noncoding	Benign
17	35844218	A	G	A35844218G	TAF15	NM_139215.3(TAF15):c.1088+60A>G	noncoding	Benign
17	35844354	G	A	G35844354A	TAF15	NM_139215.3(TAF15):c.1163G>A:p.Arg388His	coding	Benign
17	35844643	A	G	A35844643G	TAF15	NM_139215.3(TAF15):c.1344A>G:p.Gly448=	coding	Benign
17	35879999	A	G	A35879999G	CCL5	NM_001278736.2(CCL5):c.76+231T>C	noncoding	Pathogenic
17	35880401	G	C	G35880401C	CCL5	NG_015990.1:g.4973C>G	noncoding	Pathogenic
17	36537178	T	C	T36537178C	PIGW	NM_001346754.2(PIGW):c.77T>C:p.Leu26Ser	coding	Pathogenic
17	36537279	G	A	G36537279A	PIGW	NM_001346754.2(PIGW):c.178G>A:p.Asp60Asn	coding	Pathogenic
17	36537477	A	G	A36537477G	PIGW	NM_001346754.2(PIGW):c.376A>G:p.Asn126Asp	coding	Benign
17	36537563	A	T	A36537563T	PIGW	NM_001346754.2(PIGW):c.462A>T:p.Arg154Ser	coding	Pathogenic
17	36602169	G	C	G36602169C	MRM1	NM_024864.5(MRM1):c.359G>C:p.Cys120Ser	coding	Benign
17	36602314	C	G	C36602314G	MRM1	NM_024864.5(MRM1):c.504C>G:p.Phe168Leu	coding	Benign
17	37097916	G	A	G37097916A	ACACA	NM_198834.3(ACACA):c.6634C>T:p.Leu2212=	coding	Benign
17	37155791	C	T	C37155791T	ACACA	NM_198834.3(ACACA):c.5350-11G>A	noncoding	Benign
17	37192321	A	G	A37192321G	ACACA	NM_198834.3(ACACA):c.4201-16T>C	noncoding	Benign
17	37207644	C	T	C37207644T	ACACA	NM_198834.3(ACACA):c.3851+13G>A	noncoding	Benign
17	37223611	A	G	A37223611G	ACACA	NM_198834.3(ACACA):c.3475-10T>C	noncoding	Benign
17	37243553	C	G	C37243553G	ACACA	NM_198834.3(ACACA):c.2749G>C:p.Asp917His	coding	Benign
17	37248577	A	G	A37248577G	ACACA	NM_198834.3(ACACA):c.2163+16T>C	noncoding	Benign
17	37259341	C	T	C37259341T	ACACA	NM_198834.3(ACACA):c.1500+19G>A	noncoding	Benign
17	37263902	A	G	A37263902G	ACACA	NM_198834.3(ACACA):c.1120-8T>C	noncoding	Benign
17	37277130	A	G	A37277130G	ACACA	NM_198834.3(ACACA):c.721-16T>C	noncoding	Benign
17	37283330	G	T	G37283330T	ACACA	NM_198834.3(ACACA):c.547C>A:p.Arg183=	coding	Benign
17	37687350	C	T	C37687350T	HNF1B	NM_000458.4(HNF1B):c.*22G>A	coding	Benign/Likely_benign
17	37698808	G	A	G37698808A	HNF1B	NM_000458.4(HNF1B):c.1653+268C>T	noncoding	Benign
17	37698974	C	T	C37698974T	HNF1B	NM_000458.4(HNF1B):c.1653+102G>A	noncoding	Benign
17	37698987	C	T	C37698987T	HNF1B	NM_000458.4(HNF1B):c.1653+89G>A	noncoding	Benign
17	37699296	T	C	T37699296C	HNF1B	NM_000458.4(HNF1B):c.1535-102A>G	noncoding	Benign
17	37699379	C	G	C37699379G	HNF1B	NM_000458.4(HNF1B):c.1535-185G>C	noncoding	Benign
17	37700878	T	C	T37700878C	HNF1B	NM_000458.4(HNF1B):c.1534+105A>G	noncoding	Benign
17	37700972	C	T	C37700972T	HNF1B	NM_000458.4(HNF1B):c.1534+11G>A	noncoding	Benign/Likely_benign
17	37701043	C	T	C37701043T	HNF1B	NM_000458.4(HNF1B):c.1474G>A:p.Gly492Ser	coding	Benign/Likely_benign
17	37701277	G	A	G37701277A	HNF1B	NM_000458.4(HNF1B):c.1340-100C>T	noncoding	Benign
17	37704890	A	G	A37704890G	HNF1B	NM_000458.4(HNF1B):c.1339+27T>C	noncoding	Benign
17	37705067	A	G	A37705067G	HNF1B	NM_000458.4(HNF1B):c.1207-18T>C	noncoding	Benign
17	37710646	G	A	G37710646A	HNF1B	NM_000458.4(HNF1B):c.1063C>T:p.Gln355Ter	coding	Pathogenic
17	37710942	C	T	C37710942T	HNF1B	NM_000458.4(HNF1B):c.1046-279G>A	noncoding	Benign
17	37731870	C	G	C37731870G	HNF1B	NM_000458.4(HNF1B):c.810-40G>C	noncoding	Benign
17	37733732	G	A	G37733732A	HNF1B	NM_000458.4(HNF1B):c.634C>T:p.Gln212Ter	coding	Pathogenic
17	37738049	A	G	A37738049G	HNF1B	NM_000458.4(HNF1B):c.544+1391T>C	noncoding	Benign
17	37739426	A	T	A37739426T	HNF1B	NM_000458.4(HNF1B):c.544+14T>A	noncoding	Benign
17	37739490	C	T	C37739490T	HNF1B	NM_000458.4(HNF1B):c.494G>A:p.Arg165His	coding	Pathogenic/Likely_pathogenic
17	37739540	C	T	C37739540T	HNF1B	NM_000458.4(HNF1B):c.444G>A:p.Ser148=	coding	Benign/Likely_benign
17	37744476	A	C	A37744476C	HNF1B	NM_000458.4(HNF1B):c.344+65T>G	noncoding	Benign
17	37744919	T	G	T37744919G	HNF1B	NM_000458.4(HNF1B):c.-35A>C	noncoding	Benign
17	37745062	C	T	C37745062T	HNF1B	NM_000458.3(HNF1B):c.-178G>A	noncoding	Benign/Likely_benign
17	37745441	C	T	C37745441T	HNF1B	Single_allele	noncoding	Benign
17	38326555	C	T	C38326555T	GPR179	NM_001004334.4(GPR179):c.7014G>A:p.Ser2338=	coding	Benign
17	38327233	C	T	C38327233T	GPR179	NM_001004334.4(GPR179):c.6336G>A:p.Ala2112=	coding	Benign/Likely_benign
17	38328006	G	C	G38328006C	GPR179	NM_001004334.4(GPR179):c.5563C>G:p.Leu1855Val	coding	Benign/Likely_benign
17	38328480	A	C	A38328480C	GPR179	NM_001004334.4(GPR179):c.5089T>G:p.Leu1697Val	coding	Benign
17	38328550	G	C	G38328550C	GPR179	NM_001004334.4(GPR179):c.5019C>G:p.Thr1673=	coding	Benign/Likely_benign
17	38328625	G	A	G38328625A	GPR179	NM_001004334.4(GPR179):c.4944C>T:p.Val1648=	coding	Benign
17	38328681	C	G	C38328681G	GPR179	NM_001004334.4(GPR179):c.4888G>C:p.Glu1630Gln	coding	Benign/Likely_benign
17	38328860	G	A	G38328860A	GPR179	NM_001004334.4(GPR179):c.4709C>T:p.Thr1570Met	coding	Benign/Likely_benign
17	38329309	C	T	C38329309T	GPR179	NM_001004334.4(GPR179):c.4260G>A:p.Pro1420=	coding	Benign
17	38329429	C	T	C38329429T	GPR179	NM_001004334.4(GPR179):c.4140G>A:p.Pro1380=	coding	Benign
17	38329649	C	T	C38329649T	GPR179	NM_001004334.4(GPR179):c.3920G>A:p.Arg1307Gln	coding	Benign
17	38329722	G	A	G38329722A	GPR179	NM_001004334.4(GPR179):c.3847C>T:p.Pro1283Ser	coding	Benign/Likely_benign
17	38329750	G	C	G38329750C	GPR179	NM_001004334.4(GPR179):c.3819C>G:p.Ala1273=	coding	Benign/Likely_benign
17	38329843	C	T	C38329843T	GPR179	NM_001004334.4(GPR179):c.3726G>A:p.Glu1242=	coding	Benign/Likely_benign
17	38329870	C	G	C38329870G	GPR179	NM_001004334.4(GPR179):c.3699G>C:p.Leu1233=	coding	Benign
17	38330128	G	A	G38330128A	GPR179	NM_001004334.4(GPR179):c.3441C>T:p.Ser1147=	coding	Benign/Likely_benign
17	38330143	G	A	G38330143A	GPR179	NM_001004334.4(GPR179):c.3426C>T:p.Ala1142=	coding	Benign/Likely_benign
17	38330182	C	T	C38330182T	GPR179	NM_001004334.4(GPR179):c.3387G>A:p.Ser1129=	coding	Benign
17	38330577	C	T	C38330577T	GPR179	NM_001004334.4(GPR179):c.2992G>A:p.Ala998Thr	coding	Benign
17	38330965	C	G	C38330965G	GPR179	NM_001004334.4(GPR179):c.2604G>C:p.Glu868Asp	coding	Benign/Likely_benign
17	38331529	G	A	G38331529A	GPR179	NM_001004334.4(GPR179):c.2040C>T:p.Asp680=	coding	Benign/Likely_benign
17	38331733	C	G	C38331733G	GPR179	NM_001004334.4(GPR179):c.2038-202G>C	noncoding	Benign
17	38333207	C	G	C38333207G	GPR179	NM_001004334.4(GPR179):c.2037+44G>C	noncoding	Benign
17	38333253	G	A	G38333253A	GPR179	NM_001004334.4(GPR179):c.2035C>T:p.Arg679Trp	coding	Benign
17	38333504	C	T	C38333504T	GPR179	NM_001004334.4(GPR179):c.1891-107G>A	noncoding	Benign
17	38333618	G	C	G38333618C	GPR179	NM_001004334.4(GPR179):c.1891-221C>G	noncoding	Benign
17	38333723	G	C	G38333723C	GPR179	NM_001004334.4(GPR179):c.1890+210C>G	noncoding	Benign
17	38333859	C	T	C38333859T	GPR179	NM_001004334.4(GPR179):c.1890+74G>A	noncoding	Benign
17	38333984	G	A	G38333984A	GPR179	NM_001004334.4(GPR179):c.1839C>T:p.Phe613=	coding	Benign/Likely_benign
17	38334275	C	T	C38334275T	GPR179	NM_001004334.4(GPR179):c.1785-237G>A	noncoding	Benign
17	38334821	C	T	C38334821T	GPR179	NM_001004334.4(GPR179):c.1667G>A:p.Trp556Ter	coding	Pathogenic
17	38335105	G	A	G38335105A	GPR179	NM_001004334.4(GPR179):c.1573C>T:p.Arg525Ter	coding	Pathogenic/Likely_pathogenic
17	38335200	T	C	T38335200C	GPR179	NM_001004334.4(GPR179):c.1478A>G:p.His493Arg	coding	Benign
17	38335249	G	A	G38335249A	GPR179	NM_001004334.4(GPR179):c.1429C>T:p.Arg477Ter	coding	Pathogenic
17	38335428	C	A	C38335428A	GPR179	NM_001004334.4(GPR179):c.1407-157G>T	noncoding	Benign
17	38336995	G	A	G38336995A	GPR179	NM_001004334.4(GPR179):c.1210C>T:p.Arg404Cys	coding	Benign
17	38337065	C	T	C38337065T	GPR179	NM_001004334.4(GPR179):c.1140G>A:p.Leu380=	coding	Benign
17	38337176	G	A	G38337176A	GPR179	NM_001004334.4(GPR179):c.1029C>T:p.Phe343=	coding	Benign/Likely_benign
17	38337184	C	T	C38337184T	GPR179	NM_001004334.4(GPR179):c.1021G>A:p.Gly341Arg	coding	Benign
17	38337229	T	A	T38337229A	GPR179	NM_001004334.4(GPR179):c.992-16A>T	noncoding	Benign
17	38337536	C	T	C38337536T	GPR179	NM_001004334.4(GPR179):c.991+97G>A	noncoding	Benign
17	38337715	G	A	G38337715A	GPR179	NM_001004334.4(GPR179):c.909C>T:p.Val303=	coding	Benign
17	38339213	T	G	T38339213G	GPR179	NM_001004334.4(GPR179):c.903+204A>C	noncoding	Benign
17	38343066	G	A	G38343066A	GPR179	NM_001004334.4(GPR179):c.724C>T:p.Arg242Ter	coding	Pathogenic
17	38343133	T	A	T38343133A	GPR179	NM_001004334.4(GPR179):c.657A>T:p.Gly219=	coding	Benign/Likely_benign
17	38343136	A	C	A38343136C	GPR179	NM_001004334.4(GPR179):c.654T>G:p.Asp218Glu	coding	Benign/Likely_benign
17	38343163	G	A	G38343163A	GPR179	NM_001004334.4(GPR179):c.627C>T:p.Leu209=	coding	Benign/Likely_benign
17	38343716	G	T	G38343716T	GPR179	NM_001004334.4(GPR179):c.74C>A:p.Ala25Asp	coding	Benign/Likely_benign
17	38343729	C	G	C38343729G	GPR179	NM_001004334.4(GPR179):c.61G>C:p.Val21Leu	coding	Benign/Likely_benign
17	38343912	G	C	G38343912C	GPR179	NM_001004334.4(GPR179):c.-123C>G	noncoding	Benign
17	38735320	G	A	G38735320A	PCGF2	NM_007144.3(PCGF2):c.938C>T:p.Ala313Val	coding	Benign
17	38735499	C	T	C38735499T	PCGF2	NM_007144.3(PCGF2):c.759G>A:p.Ala253=	coding	Benign
17	38736070	C	T	C38736070T	PCGF2	NM_007144.3(PCGF2):c.657+20G>A	noncoding	Benign
17	38738586	G	A	G38738586A	PCGF2	NM_007144.3(PCGF2):c.435C>T:p.Asp145=	coding	Benign
17	38738590	C	T	C38738590T	PCGF2	NM_007144.3(PCGF2):c.431G>A:p.Arg144Gln	coding	Benign
17	38738826	A	G	A38738826G	PCGF2	NM_007144.3(PCGF2):c.352T>C:p.Leu118=	coding	Benign
17	38738854	G	A	G38738854A	PCGF2	NM_007144.3(PCGF2):c.324C>T:p.Asn108=	coding	Benign
17	38739190	G	A	G38739190A	PCGF2	NM_007144.3(PCGF2):c.265+8C>T	noncoding	Benign
17	38739261	A	G	A38739261G	PCGF2	NM_007144.3(PCGF2):c.210-8T>C	noncoding	Benign
17	38739263	A	G	A38739263G	PCGF2	NM_007144.3(PCGF2):c.210-10T>C	noncoding	Benign
17	38739601	G	A	G38739601A	PCGF2	NM_007144.3(PCGF2):c.194C>T:p.Pro65Leu	coding	Pathogenic/Likely_pathogenic
17	38739701	G	A	G38739701A	PCGF2	NM_007144.3(PCGF2):c.113-19C>T	noncoding	Benign
17	38740281	C	T	C38740281T	PCGF2	NM_007144.3(PCGF2):c.112+10G>A	noncoding	Benign
17	38740352	C	T	C38740352T	PCGF2	NM_007144.3(PCGF2):c.51G>A:p.Met17Ile	coding	Benign
17	38945127	T	C	T38945127C	FBXO47	NM_001008777.3(FBXO47):c.626A>G:p.Gln209Arg	coding	Benign
17	39202394	C	A	C39202394A	RPL19	NM_000981.4(RPL19):c.190C>A:p.Arg64=	coding	Benign
17	39202426	G	A	G39202426A	RPL19	NM_000981.4(RPL19):c.222G>A:p.Arg74=	coding	Benign/Likely_benign
17	39202978	C	T	C39202978T	RPL19	NM_000981.4(RPL19):c.236-11C>T	noncoding	Benign
17	39204591	G	A	G39204591A	RPL19	NM_000981.4(RPL19):c.534G>A:p.Gln178=	coding	Benign/Likely_benign
17	39204593	C	T	C39204593T	RPL19	NM_000981.4(RPL19):c.536C>T:p.Ala179Val	coding	Benign
17	39204610	A	T	A39204610T	RPL19	NM_000981.4(RPL19):c.553A>T:p.Ile185Phe	coding	Benign
17	39204642	G	A	G39204642A	RPL19	NM_000981.4(RPL19):c.585G>A:p.Lys195=	coding	Benign/Likely_benign
17	39461967	C	T	C39461967T	CDK12	NM_016507.4(CDK12):c.-105C>T	noncoding	Benign
17	39462785	G	A	G39462785A	CDK12	NM_016507.4(CDK12):c.714G>A:p.Ser238=	coding	Benign
17	39471134	A	G	A39471134G	CDK12	NM_016507.4(CDK12):c.1302A>G:p.Ser434=	coding	Benign
17	39490789	T	A	T39490789A	CDK12	NM_016507.4(CDK12):c.2108+56T>A	noncoding	Benign/Likely_benign
17	39509778	A	C	A39509778C	CDK12	NM_016507.4(CDK12):c.2666+17A>C	noncoding	Benign
17	39515965	G	T	G39515965T	CDK12	NM_016507.4(CDK12):c.2846+157G>T	noncoding	Benign
17	39517667	T	A	T39517667A	CDK12	NM_016507.4(CDK12):c.2963+111T>A	noncoding	Benign
17	39517689	G	A	G39517689A	CDK12	NM_016507.4(CDK12):c.2963+133G>A	noncoding	Benign
17	39517808	T	C	T39517808C	CDK12	NM_016507.4(CDK12):c.2963+252T>C	noncoding	Benign
17	39525079	C	T	C39525079T	CDK12	NM_016507.4(CDK12):c.3307+194C>T	noncoding	Benign
17	39525748	C	T	C39525748T	CDK12	NM_016507.4(CDK12):c.3308-116C>T	noncoding	Benign
17	39525947	A	G	A39525947G	CDK12	NM_016507.4(CDK12):c.3391A>G:p.Ile1131Val	coding	Benign
17	39526039	G	A	G39526039A	CDK12	NM_016507.4(CDK12):c.3483G>A:p.Thr1161=	coding	Benign
17	39526404	A	G	A39526404G	CDK12	NM_016507.4(CDK12):c.3760+88A>G	noncoding	Benign
17	39606402	C	T	C39606402T	NEUROD2	NM_006160.4(NEUROD2):c.198G>A:p.Thr66_Glu67=	coding	Benign
17	39665022	A	G	A39665022G	TCAP	Single_allele	noncoding	Benign
17	39665474	G	A	G39665474A	TCAP	NM_003673.4(TCAP):c.110+5G>A	noncoding	Pathogenic
17	39665700	C	G	C39665700G	TCAP	NM_003673.4(TCAP):c.111-16C>G	noncoding	Benign
17	39665762	C	T	C39665762T	TCAP	NM_003673.4(TCAP):c.157C>T:p.Gln53Ter	coding	Pathogenic/Likely_pathogenic
17	39665771	C	T	C39665771T	TCAP	NM_003673.4(TCAP):c.166C>T:p.Gln56Ter	coding	Pathogenic
17	39672243	T	C	T39672243C	PGAP3	NM_033419.5(PGAP3):c.*560A>G	noncoding	Benign
17	39672492	A	G	A39672492G	PGAP3	NM_033419.5(PGAP3):c.*311T>C	noncoding	Benign
17	39672534	G	A	G39672534A	PGAP3	NM_033419.5(PGAP3):c.*269C>T	noncoding	Benign
17	39672876	A	G	A39672876G	PGAP3	NM_033419.5(PGAP3):c.900-10T>C	noncoding	Benign
17	39672884	A	G	A39672884G	PGAP3	NM_033419.5(PGAP3):c.900-18T>C	noncoding	Benign
17	39673317	C	G	C39673317G	PGAP3	NM_033419.5(PGAP3):c.695-62G>C	noncoding	Benign
17	39673318	C	A	C39673318A	PGAP3	NM_033419.5(PGAP3):c.695-63G>T	noncoding	Benign
17	39673351	C	T	C39673351T	PGAP3	NM_033419.5(PGAP3):c.695-96G>A	noncoding	Benign
17	39673660	C	T	C39673660T	PGAP3	NM_033419.5(PGAP3):c.558-10G>A	noncoding	Pathogenic/Likely_pathogenic
17	39673993	C	G	C39673993G	PGAP3	NM_033419.5(PGAP3):c.557G>C:p.Arg186Thr	coding	Pathogenic
17	39674194	T	A	T39674194A	PGAP3	NM_033419.5(PGAP3):c.496-140A>T	noncoding	Benign
17	39674657	C	T	C39674657T	PGAP3	NM_033419.5(PGAP3):c.455G>A:p.Trp152Ter	coding	Pathogenic
17	39674782	A	G	A39674782G	PGAP3	NM_033419.5(PGAP3):c.433-103T>C	noncoding	Benign
17	39684709	G	A	G39684709A	PGAP3	NM_033419.5(PGAP3):c.320C>T:p.Ser107Leu	coding	Pathogenic/Likely_pathogenic
17	39684958	G	C	G39684958C	PGAP3	NM_033419.5(PGAP3):c.280-209C>G	noncoding	Benign
17	39687606	G	A	G39687606A	PGAP3	NM_033419.5(PGAP3):c.181+228C>T	noncoding	Benign
17	39700289	C	A	C39700289A	ERBB2	NM_004448.4(ERBB2):c.51C>A:p.Pro17=	coding	Benign
17	39707056	G	A	G39707056A	ERBB2	NM_004448.4(ERBB2):c.140G>A:p.Arg47His	coding	Benign
17	39708523	G	A	G39708523A	ERBB2	NM_004448.4(ERBB2):c.428G>A:p.Arg143Gln	coding	Benign/Likely_benign
17	39711955	C	A	C39711955A	ERBB2	NM_004448.4(ERBB2):c.929C>A:p.Ser310Tyr	coding	Pathogenic
17	39712066	C	T	C39712066T	ERBB2	NM_004448.4(ERBB2):c.1021+19C>T	noncoding	Benign
17	39712413	T	C	T39712413C	ERBB2	NM_004448.4(ERBB2):c.1113T>C:p.Phe371=	coding	Benign
17	39715797	A	G	A39715797G	ERBB2	NM_004448.4(ERBB2):c.1371A>G:p.Ser457=	coding	Benign
17	39715842	C	T	C39715842T	ERBB2	NM_004448.4(ERBB2):c.1416C>T:p.Thr472=	coding	Benign
17	39715893	G	A	G39715893A	ERBB2	NM_004448.4(ERBB2):c.1467G>A:p.Pro489=	coding	Benign
17	39719820	C	T	C39719820T	ERBB2	NM_004448.4(ERBB2):c.1932C>T:p.Ala644=	coding	Benign
17	39723527	C	G	C39723527G	ERBB2	NM_004448.4(ERBB2):c.2086-11C>G	noncoding	Benign
17	39723581	C	T	C39723581T	ERBB2	NM_004448.4(ERBB2):c.2129C>T:p.Ala710Val	coding	Pathogenic
17	39724797	G	A	G39724797A	ERBB2	NM_004448.4(ERBB2):c.2379G>A:p.Thr793=	coding	Benign
17	39724861	G	A	G39724861A	ERBB2	NM_004448.4(ERBB2):c.2443G>A:p.Gly815Arg	coding	Benign/Likely_benign
17	39725771	G	T	G39725771T	ERBB2	NM_004448.4(ERBB2):c.2790G>T:p.Glu930Asp	coding	Benign
17	39726914	C	T	C39726914T	ERBB2	NM_004448.4(ERBB2):c.3070C>T:p.Leu1024=	coding	Benign
17	39726952	C	T	C39726952T	ERBB2	NM_004448.4(ERBB2):c.3108C>T:p.Ala1036=	coding	Benign
17	39727016	G	A	G39727016A	ERBB2	NM_004448.4(ERBB2):c.3159+13G>A	noncoding	Benign
17	39727538	C	T	C39727538T	ERBB2	NM_004448.4(ERBB2):c.3403C>T:p.Pro1135Ser	coding	Benign
17	39727758	G	A	G39727758A	ERBB2	NM_004448.4(ERBB2):c.3482G>A:p.Arg1161Gln	coding	Benign
17	39727784	C	G	C39727784G	ERBB2	NM_004448.4(ERBB2):c.3508C>G:p.Pro1170Ala	coding	Benign
17	39791533	C	G	C39791533G	IKZF3	NM_012481.5(IKZF3):c.475G>C:p.Gly159Arg	coding	Pathogenic
17	40019613	G	A	G40019613A	MED24	NM_014815.4(MED24):c.2886C>T:p.Ser962=	coding	Benign
17	40023239	A	G	A40023239G	MED24	NM_014815.4(MED24):c.2142T>C:p.Ile714=	coding	Benign
17	40023414	A	G	A40023414G	MED24	NM_014815.4(MED24):c.1986-19T>C	noncoding	Benign
17	40088306	C	T	C40088306T	THRA	NM_199334.5(THRA):c.788C>T:p.Ala263Val	coding	Pathogenic/Likely_pathogenic
17	40088389	G	A	G40088389A	THRA	NM_199334.5(THRA):c.871G>A:p.Gly291Ser	coding	Pathogenic
17	40089373	C	T	C40089373T	THRA	NM_199334.5(THRA):c.1150C>T:p.Arg384Cys	coding	Pathogenic
17	40287379	A	G	A40287379G	CDC6	NC_000017.10:g.38443631A>G	noncoding	Benign
17	40291352	A	C	A40291352C	CDC6	NM_001254.4(CDC6):c.460+13A>C	noncoding	Benign
17	40293647	C	T	C40293647T	CDC6	NM_001254.4(CDC6):c.836+16C>T	noncoding	Benign
17	40294536	T	A	T40294536A	CDC6	NM_001254.4(CDC6):c.1083+33T>A	noncoding	Benign
17	40628675	G	A	G40628675A	SMARCE1	NM_003079.5(SMARCE1):c.*110C>T	noncoding	Benign
17	40629011	T	C	T40629011C	SMARCE1	NM_003079.5(SMARCE1):c.1028-18A>G	noncoding	Benign
17	40629169	T	C	T40629169C	SMARCE1	NM_003079.5(SMARCE1):c.1028-176A>G	noncoding	Benign
17	40630847	T	C	T40630847C	SMARCE1	NM_003079.5(SMARCE1):c.894A>G:p.Lys298=	coding	Benign/Likely_benign
17	40631419	G	C	G40631419C	SMARCE1	NM_003079.5(SMARCE1):c.816+173C>G	noncoding	Benign
17	40631591	C	A	C40631591A	SMARCE1	NM_003079.5(SMARCE1):c.816+1G>T	noncoding	Pathogenic
17	40631693	G	A	G40631693A	SMARCE1	NM_003079.5(SMARCE1):c.715C>T:p.Arg239Ter	coding	Pathogenic
17	40631901	T	C	T40631901C	SMARCE1	NM_003079.5(SMARCE1):c.715-208A>G	noncoding	Benign
17	40632096	C	T	C40632096T	SMARCE1	NM_003079.5(SMARCE1):c.714+99G>A	noncoding	Benign
17	40632221	G	A	G40632221A	SMARCE1	NM_003079.5(SMARCE1):c.688C>T:p.Gln230Ter	coding	Pathogenic
17	40632236	G	A	G40632236A	SMARCE1	NM_003079.5(SMARCE1):c.673C>T:p.Gln225Ter	coding	Pathogenic
17	40635851	T	A	T40635851A	SMARCE1	NM_003079.5(SMARCE1):c.541+80A>T	noncoding	Benign
17	40635979	C	A	C40635979A	SMARCE1	NM_003079.5(SMARCE1):c.493G>T:p.Glu165Ter	coding	Pathogenic
17	40636000	G	A	G40636000A	SMARCE1	NM_003079.5(SMARCE1):c.472C>T:p.Arg158Ter	coding	Pathogenic
17	40636383	C	A	C40636383A	SMARCE1	NM_003079.5(SMARCE1):c.369+12G>T	noncoding	Benign
17	40636436	C	A	C40636436A	SMARCE1	NM_003079.5(SMARCE1):c.328G>T:p.Glu110Ter	coding	Pathogenic
17	40636454	A	G	A40636454G	SMARCE1	NM_003079.5(SMARCE1):c.310T>C:p.Trp104Arg	coding	Pathogenic
17	40636744	G	A	G40636744A	SMARCE1	NM_003079.5(SMARCE1):c.238-218C>T	noncoding	Benign
17	40637304	C	T	C40637304T	SMARCE1	NM_003079.5(SMARCE1):c.237+188G>A	noncoding	Benign
17	40645854	T	A	T40645854A	SMARCE1	NM_003079.5(SMARCE1):c.-45-7A>T	noncoding	Benign
17	40747995	C	T	C40747995T	KRT25	Single_allele	noncoding	Benign
17	40754559	G	T	G40754559T	KRT25	NM_181534.4(KRT25):c.430-91C>A	noncoding	Benign
17	40754960	G	A	G40754960A	KRT25	NM_181534.4(KRT25):c.312C>T:p.Asn104=	coding	Benign
17	40755075	C	G	C40755075G	KRT25	NM_181534.4(KRT25):c.197G>C:p.Gly66Ala	coding	Benign
17	40755111	G	A	G40755111A	KRT25	NM_181534.4(KRT25):c.161C>T:p.Ser54Leu	coding	Benign
17	40818360	T	C	T40818360C	KRT10	NM_000421.5(KRT10):c.*116A>G	noncoding	Benign
17	40818411	T	C	T40818411C	KRT10	NM_000421.5(KRT10):c.*65A>G	noncoding	Benign
17	40818434	G	A	G40818434A	KRT10	NM_000421.5(KRT10):c.*42C>T	noncoding	Benign
17	40818811	C	A	C40818811A	KRT10	NM_000421.5(KRT10):c.1724G>T:p.Gly575Val	coding	Benign
17	40818895	G	T	G40818895T	KRT10	NM_000421.5(KRT10):c.1640C>A:p.Ser547Tyr	coding	Benign
17	40818903	G	T	G40818903T	KRT10	NM_000421.5(KRT10):c.1632C>A:p.Gly544=	coding	Benign/Likely_benign
17	40818938	C	T	C40818938T	KRT10	NM_000421.5(KRT10):c.1597G>A:p.Gly533Ser	coding	Benign
17	40818942	A	C	A40818942C	KRT10	NM_000421.5(KRT10):c.1593T>G:p.Gly531=	coding	Benign
17	40819011	G	C	G40819011C	KRT10	NM_000421.5(KRT10):c.1524C>G:p.Ser508Arg	coding	Benign
17	40819067	C	T	C40819067T	KRT10	NM_000421.5(KRT10):c.1468G>A:p.Gly490Ser	coding	Benign
17	40819076	G	A	G40819076A	KRT10	NM_000421.5(KRT10):c.1459C>T:p.His487Tyr	coding	Benign
17	40819122	G	T	G40819122T	KRT10	NM_000421.5(KRT10):c.1413C>A:p.Gly471=	coding	Benign
17	40819162	C	G	C40819162G	KRT10	NM_000421.5(KRT10):c.1374-1G>C	coding	Pathogenic
17	40819545	A	G	A40819545G	KRT10	NM_000421.5(KRT10):c.1345T>C:p.Tyr449His	coding	Pathogenic
17	40820248	G	A	G40820248A	KRT10	NM_000421.5(KRT10):c.1029+14C>T	noncoding	Benign
17	40820454	A	G	A40820454G	KRT10	NM_000421.5(KRT10):c.868-31T>C	noncoding	Benign
17	40820464	C	T	C40820464T	KRT10	NM_000421.5(KRT10):c.868-41G>A	noncoding	Benign
17	40820622	G	A	G40820622A	KRT10	NM_000421.5(KRT10):c.756C>T:p.Ile252=	coding	Benign
17	40820726	C	A	C40820726A	KRT10	NM_000421.5(KRT10):c.711-59G>T	noncoding	Benign
17	40820746	G	A	G40820746A	KRT10	NM_000421.5(KRT10):c.711-79C>T	noncoding	Benign
17	40820796	T	C	T40820796C	KRT10	NM_000421.5(KRT10):c.711-129A>G	noncoding	Benign
17	40822116	A	G	A40822116G	KRT10	NM_000421.5(KRT10):c.470T>C:p.Leu157Pro	coding	Pathogenic
17	40822210	C	T	C40822210T	KRT10	NM_000421.5(KRT10):c.376G>A:p.Gly126Ser	coding	Benign
17	40822211	G	A	G40822211A	KRT10	NM_000421.5(KRT10):c.375C>T:p.Gly125=	coding	Benign
17	40822274	C	T	C40822274T	KRT10	NM_000421.5(KRT10):c.312G>A:p.Gly104=	coding	Benign
17	40822284	A	C	A40822284C	KRT10	NM_000421.5(KRT10):c.302T>G:p.Ile101Ser	coding	Benign
17	40822433	C	A	C40822433A	KRT10	NM_000421.5(KRT10):c.153G>T:p.Gly51=	coding	Benign
17	40822451	T	C	T40822451C	KRT10	NM_000421.5(KRT10):c.135A>G:p.Gly45=	coding	Benign
17	40822511	A	G	A40822511G	KRT10	NM_000421.5(KRT10):c.75T>C:p.Cys25=	coding	Benign
17	40822542	C	T	C40822542T	KRT10	NM_000421.5(KRT10):c.44G>A:p.Arg15His	coding	Benign
17	40822818	T	C	T40822818C	KRT10	Single_allele	noncoding	Benign
17	40822889	G	A	G40822889A	KRT10	Single_allele	noncoding	Benign
17	40867129	G	A	G40867129A	KRT12	NM_000223.4(KRT12):c.58C>T:p.Arg20Trp	coding	Benign
17	40867144	G	A	G40867144A	KRT12	NM_000223.4(KRT12):c.43C>T:p.Pro15Ser	coding	Benign
17	41160618	T	C	T41160618C	KRTAP4-4	NM_032524.2(KRTAP4-4):c.74A>G:p.Tyr25Cys	coding	Benign
17	41500927	G	C	G41500927C	KRT13	Single_allele	noncoding	Benign
17	41502347	C	T	C41502347T	KRT13	NM_153490.3(KRT13):c.1244+27G>A	noncoding	Benign
17	41502839	T	C	T41502839C	KRT13	NM_153490.3(KRT13):c.898-27A>G	noncoding	Benign
17	41502942	T	C	T41502942C	KRT13	NM_153490.3(KRT13):c.892A>G:p.Thr298Ala	coding	Benign
17	41503074	C	G	C41503074G	KRT13	NM_153490.3(KRT13):c.760G>C:p.Val254Leu	coding	Benign
17	41503472	T	C	T41503472C	KRT13	NM_153490.3(KRT13):c.579-29A>G	noncoding	Benign
17	41503753	T	C	T41503753C	KRT13	NM_153490.3(KRT13):c.496-28A>G	noncoding	Benign
17	41503991	C	G	C41503991G	KRT13	NM_153490.3(KRT13):c.496-266G>C	noncoding	Benign
17	41505023	T	A	T41505023A	KRT13	NM_153490.3(KRT13):c.495+33A>T	noncoding	Benign
17	41505437	G	A	G41505437A	KRT13	NM_153490.3(KRT13):c.114C>T:p.Ser38=	coding	Benign
17	41505767	G	A	G41505767A	KRT13	Single_allele	noncoding	Benign
17	41505917	C	T	C41505917T	KRT13	Single_allele	noncoding	Benign
17	41567199	A	G	A41567199G	KRT9	NM_000226.4(KRT9):c.*40+34T>C	noncoding	Benign
17	41567345	G	A	G41567345A	KRT9	NM_000226.4(KRT9):c.1800C>T:p.Tyr600=	coding	Benign/Likely_benign
17	41567636	T	C	T41567636C	KRT9	NM_000226.4(KRT9):c.1509A>G:p.Gly503=	coding	Benign
17	41567763	G	A	G41567763A	KRT9	NM_000226.4(KRT9):c.1395-13C>T	noncoding	Benign/Likely_benign
17	41567795	T	C	T41567795C	KRT9	NM_000226.4(KRT9):c.1395-45A>G	noncoding	Benign
17	41569194	A	G	A41569194G	KRT9	NM_000226.4(KRT9):c.1044+232T>C	noncoding	Benign
17	41569522	G	A	G41569522A	KRT9	NM_000226.4(KRT9):c.948C>T:p.Gly316=	coding	Benign/Likely_benign
17	41569886	C	A	C41569886A	KRT9	NM_000226.4(KRT9):c.855G>T:p.Leu285=	coding	Benign/Likely_benign
17	41569996	G	A	G41569996A	KRT9	NM_000226.4(KRT9):c.745C>T:p.Leu249=	coding	Benign
17	41571415	C	G	C41571415G	KRT9	NM_000226.4(KRT9):c.578G>C:p.Gly193Ala	coding	Benign
17	41571505	C	T	C41571505T	KRT9	NM_000226.4(KRT9):c.488G>A:p.Arg163Gln	coding	Pathogenic/Likely_pathogenic
17	41571567	T	G	T41571567G	KRT9	NM_000226.4(KRT9):c.426A>C:p.Gly142=	coding	Benign
17	41572091	C	T	C41572091T	KRT9	Single_allele	noncoding	Benign
17	41582500	C	T	C41582500T	KRT14	NM_000526.5(KRT14):c.1354G>A:p.Val452Ile	coding	Benign
17	41583159	A	G	A41583159G	KRT14	NM_000526.5(KRT14):c.1275-19T>C	noncoding	Benign
17	41583206	G	C	G41583206C	KRT14	NM_000526.5(KRT14):c.1274+29C>G	noncoding	Benign
17	41583230	C	G	C41583230G	KRT14	NM_000526.5(KRT14):c.1274+5G>C	noncoding	Pathogenic
17	41583265	T	C	T41583265C	KRT14	NM_000526.5(KRT14):c.1244A>G:p.Tyr415Cys	coding	Pathogenic
17	41583272	C	T	C41583272T	KRT14	NM_000526.5(KRT14):c.1237G>A:p.Ala413Thr	coding	Benign/Likely_benign
17	41583286	A	T	A41583286T	KRT14	NM_000526.5(KRT14):c.1223T>A:p.Leu408Gln	coding	Pathogenic
17	41583304	A	C	A41583304C	KRT14	NM_000526.5(KRT14):c.1205T>G:p.Leu402Arg	coding	Pathogenic
17	41583365	C	A	C41583365A	KRT14	NM_000526.5(KRT14):c.1144G>T:p.Glu382Ter	coding	Pathogenic
17	41583379	A	G	A41583379G	KRT14	NM_000526.5(KRT14):c.1130T>C:p.Ile377Thr	coding	Pathogenic
17	41583759	C	T	C41583759T	KRT14	NM_000526.5(KRT14):c.927+1G>A	noncoding	Pathogenic
17	41583879	C	T	C41583879T	KRT14	NM_000526.5(KRT14):c.808G>A:p.Val270Met	coding	Pathogenic
17	41583921	C	A	C41583921A	KRT14	NM_000526.5(KRT14):c.766G>T:p.Glu256Ter	coding	Pathogenic
17	41584377	T	C	T41584377C	KRT14	NM_000526.5(KRT14):c.645A>G:p.Glu215=	coding	Benign
17	41584955	G	C	G41584955C	KRT14	NM_000526.5(KRT14):c.608+20C>G	noncoding	Benign
17	41585028	A	G	A41585028G	KRT14	NM_000526.5(KRT14):c.555T>C:p.Asn185=	coding	Benign
17	41586446	A	G	A41586446G	KRT14	NM_000526.5(KRT14):c.389T>C:p.Leu130Pro	coding	Pathogenic
17	41586450	A	C	A41586450C	KRT14	NM_000526.5(KRT14):c.385T>G:p.Tyr129Asp	coding	Pathogenic
17	41586450	A	G	A41586450G	KRT14	NM_000526.5(KRT14):c.385T>C:p.Tyr129His	coding	Pathogenic
17	41586471	G	A	G41586471A	KRT14	NM_000526.5(KRT14):c.364C>T:p.Leu122Phe	coding	Pathogenic
17	41586480	T	C	T41586480C	KRT14	NM_000526.5(KRT14):c.355A>G:p.Met119Val	coding	Pathogenic/Likely_pathogenic
17	41586489	T	A	T41586489A	KRT14	NM_000526.5(KRT14):c.346A>T:p.Lys116Ter	coding	Pathogenic
17	41586647	C	T	C41586647T	KRT14	NM_000526.5(KRT14):c.188G>A:p.Cys63Tyr	coding	Benign
17	41610014	G	A	G41610014A	KRT16	NM_005557.4(KRT16):c.1343C>T:p.Ser448Leu	coding	Benign
17	41610252	A	G	A41610252G	KRT16	NM_005557.4(KRT16):c.1281-16T>C	noncoding	Benign
17	41610549	T	A	T41610549A	KRT16	NM_005557.4(KRT16):c.1062A>T:p.Lys354Asn	coding	Pathogenic/Likely_pathogenic
17	41611492	A	G	A41611492G	KRT16	NM_005557.4(KRT16):c.624T>C:p.His208=	coding	Benign
17	41612568	G	A	G41612568A	KRT16	NM_005557.4(KRT16):c.121C>T:p.Arg41Cys	coding	Benign
17	41619618	C	T	C41619618T	KRT17	NM_000422.3(KRT17):c.1275G>A:p.Glu425=	coding	Benign
17	41620795	C	T	C41620795T	KRT17	NM_000422.3(KRT17):c.1045G>A:p.Val349Met	coding	Benign
17	41622908	G	C	G41622908C	KRT17	NM_000422.3(KRT17):c.515+42C>G	noncoding	Benign
17	41624500	A	T	A41624500T	KRT17	NM_000422.3(KRT17):c.10T>A:p.Ser4Thr	coding	Benign
17	41624551	A	G	A41624551G	KRT17	NM_000422.3(KRT17):c.-42T>C	noncoding	Benign
17	41724714	G	T	G41724714T	HAP1	NM_177977.3(HAP1):c.1847C>A:p.Ser616Ter	coding	Benign
17	41727098	G	A	G41727098A	HAP1	NM_177977.3(HAP1):c.1322C>T:p.Thr441Met	coding	Benign
17	41754526	C	A	C41754526A	JUP	Single_allele	noncoding	Benign
17	41755035	C	G	C41755035G	JUP	NM_002230.4(JUP):c.*709G>C	noncoding	Benign/Likely_benign
17	41755458	G	A	G41755458A	JUP	NM_002230.4(JUP):c.*286C>T	noncoding	Benign/Likely_benign
17	41757422	C	T	C41757422T	JUP	NM_002230.4(JUP):c.2039G>A:p.Trp680Ter	coding	Pathogenic
17	41757520	G	A	G41757520A	JUP	NM_002230.4(JUP):c.1941C>T:p.Ala647=	coding	Benign/Likely_benign
17	41757553	G	A	G41757553A	JUP	NM_002230.4(JUP):c.1925-17C>T	noncoding	Benign/Likely_benign
17	41757555	A	C	A41757555C	JUP	NM_002230.4(JUP):c.1925-19T>G	noncoding	Benign
17	41757650	G	A	G41757650A	JUP	NM_002230.4(JUP):c.1908C>T:p.Ser636=	coding	Benign/Likely_benign
17	41757688	C	A	C41757688A	JUP	NM_002230.4(JUP):c.1870G>T:p.Glu624Ter	coding	Pathogenic
17	41757800	G	A	G41757800A	JUP	NM_002230.4(JUP):c.1774-16C>T	noncoding	Benign/Likely_benign
17	41758729	G	A	G41758729A	JUP	NM_002230.4(JUP):c.1639C>T:p.Gln547Ter	coding	Pathogenic
17	41765032	G	A	G41765032A	JUP	NM_002230.4(JUP):c.945C>T:p.Leu315=	coding	Benign/Likely_benign
17	41767526	G	A	G41767526A	JUP	NM_002230.4(JUP):c.762C>T:p.Leu254=	coding	Benign/Likely_benign
17	41767584	G	C	G41767584C	JUP	NM_002230.4(JUP):c.708-4C>G	noncoding	Benign/Likely_benign
17	41767708	T	C	T41767708C	JUP	NM_002230.4(JUP):c.708-128A>G	noncoding	Benign
17	41768833	G	A	G41768833A	JUP	NM_002230.4(JUP):c.707+136C>T	noncoding	Benign
17	41769151	C	T	C41769151T	JUP	NM_002230.4(JUP):c.525G>A:p.Ser175=	coding	Benign/Likely_benign
17	41769535	G	A	G41769535A	JUP	NM_002230.4(JUP):c.351C>T:p.Ala117=	coding	Benign/Likely_benign
17	41769664	G	C	G41769664C	JUP	NM_002230.4(JUP):c.222C>G:p.Tyr74Ter	coding	Pathogenic
17	41769897	C	T	C41769897T	JUP	NM_002230.4(JUP):c.209-220G>A	noncoding	Benign
17	41769902	A	C	A41769902C	JUP	NM_002230.4(JUP):c.209-225T>G	noncoding	Benign
17	41771747	G	A	G41771747A	JUP	NM_002230.4(JUP):c.108C>T:p.Ser36=	coding	Benign/Likely_benign
17	41771789	G	A	G41771789A	JUP	NM_002230.4(JUP):c.66C>T:p.Tyr22=	coding	Benign/Likely_benign
17	41786813	C	T	C41786813T	JUP	Single_allele	noncoding	Benign
17	41812449	T	G	T41812449G	FKBP10	Single_allele	noncoding	Benign
17	41812678	T	C	T41812678C	FKBP10	Single_allele	noncoding	Benign
17	41813158	G	T	G41813158T	FKBP10	NM_021939.4(FKBP10):c.124G>T:p.Glu42Ter	coding	Pathogenic
17	41817155	C	T	C41817155T	FKBP10	NM_021939.4(FKBP10):c.343C>T:p.Arg115Ter	coding	Pathogenic
17	41818123	C	T	C41818123T	FKBP10	NM_021939.4(FKBP10):c.426C>T:p.Phe142=	coding	Benign
17	41818412	C	G	C41818412G	FKBP10	NM_021939.4(FKBP10):c.612C>G:p.Tyr204Ter	coding	Pathogenic
17	41819051	T	C	T41819051C	FKBP10	NM_021939.4(FKBP10):c.728-159T>C	noncoding	Benign
17	41820019	G	A	G41820019A	FKBP10	NM_021939.4(FKBP10):c.1064-250G>A	noncoding	Benign
17	41820481	G	A	G41820481A	FKBP10	NM_021939.4(FKBP10):c.1256+20G>A	noncoding	Benign
17	41820817	G	A	G41820817A	FKBP10	NM_021939.4(FKBP10):c.1257-130G>A	noncoding	Benign
17	41837496	T	C	T41837496C	KLHL10	NM_001329595.1(KLHL10):c.-99T>C	noncoding	Benign
17	41837519	G	A	G41837519A	KLHL10	NM_001329595.1(KLHL10):c.-76G>A	noncoding	Benign
17	41841793	C	T	C41841793T	KLHL10	NM_152467.5(KLHL10):c.195-30C>T	noncoding	Benign
17	41841889	C	T	C41841889T	KLHL10	NM_152467.5(KLHL10):c.261C>T:p.Pro87=	coding	Benign
17	41845407	T	C	T41845407C	KLHL10	NM_152467.5(KLHL10):c.966T>C:p.Thr322=	coding	Benign
17	41845426	C	T	C41845426T	KLHL10	NM_152467.5(KLHL10):c.985C>T:p.Arg329Cys	coding	Pathogenic
17	41847047	G	A	G41847047A	KLHL10	NM_152467.5(KLHL10):c.1303-214G>A	noncoding	Benign
17	41847095	G	A	G41847095A	KLHL10	NM_152467.5(KLHL10):c.1303-166G>A	noncoding	Benign
17	41847107	C	G	C41847107G	KLHL10	NM_152467.5(KLHL10):c.1303-154C>G	noncoding	Benign
17	41847169	C	T	C41847169T	KLHL10	NM_152467.5(KLHL10):c.1303-92C>T	noncoding	Benign
17	41847438	C	A	C41847438A	KLHL10	NM_152467.5(KLHL10):c.1452+28C>A	noncoding	Benign
17	41935363	G	A	G41935363A	ODAD4	NM_031421.5(ODAD4):c.246+15G>A	noncoding	Benign
17	41938582	C	T	C41938582T	ODAD4	NM_031421.5(ODAD4):c.651C>T:p.Gly217=	coding	Benign
17	41977224	T	G	T41977224G	DNAJC7	NM_003315.4(DNAJC7):c.1447+37A>C	coding	Benign
17	41990103	C	T	C41990103T	DNAJC7	NM_003315.4(DNAJC7):c.599+161G>A	noncoding	Benign
17	41990284	T	C	T41990284C	DNAJC7	NM_003315.4(DNAJC7):c.579A>G:p.Pro193=	coding	Benign
17	41994952	G	A	G41994952A	DNAJC7	NM_003315.4(DNAJC7):c.406-8C>T	noncoding	Benign
17	41997304	G	T	G41997304T	DNAJC7	NM_003315.4(DNAJC7):c.167-65C>A	noncoding	Benign
17	42017501	G	T	G42017501T	DNAJC7	Single_allele	noncoding	Benign
17	42017942	G	A	G42017942A	DNAJC7	NM_001001349.2(NKIRAS2):c.-15+316G>A	noncoding	Benign
17	42105145	T	C	T42105145C	DHX58	NM_024119.3(DHX58):c.1274A>G:p.Gln425Arg	coding	Benign
17	42114921	G	A	G42114921A	KAT2A	NM_021078.3(KAT2A):c.1990C>T:p.Leu664=	coding	Benign
17	42120388	G	C	G42120388C	KAT2A	NM_021078.3(KAT2A):c.464-18C>G	noncoding	Benign
17	42128273	G	A	G42128273A	RAB5C	NM_004583.4(RAB5C):c.429C>T:p.Ala143=	coding	Benign
17	42207546	G	A	G42207546A	STAT5B	NM_012448.4(STAT5B):c.2077+12C>T	noncoding	Benign
17	42207570	C	A	C42207570A	STAT5B	NM_012448.4(STAT5B):c.2065G>T:p.Glu689Ter	coding	Pathogenic
17	42210460	C	T	C42210460T	STAT5B	NM_012448.4(STAT5B):c.1718G>A:p.Trp573Ter	coding	Pathogenic
17	42215745	A	C	A42215745C	STAT5B	NM_012448.4(STAT5B):c.1473+269T>G	noncoding	Benign
17	42218311	G	A	G42218311A	STAT5B	NM_012448.4(STAT5B):c.1009C>T:p.Gln337Ter	coding	Pathogenic
17	42223571	G	C	G42223571C	STAT5B	NM_012448.4(STAT5B):c.376-15C>G	noncoding	Benign
17	42223863	G	T	G42223863T	STAT5B	NM_012448.4(STAT5B):c.376-307C>A	noncoding	Benign
17	42224762	C	T	C42224762T	STAT5B	NM_012448.4(STAT5B):c.375+17G>A	noncoding	Benign
17	42227517	G	A	G42227517A	STAT5B	NM_012448.4(STAT5B):c.285+12C>T	noncoding	Benign
17	42227643	G	A	G42227643A	STAT5B	NM_012448.4(STAT5B):c.171C>T:p.Ala57=	coding	Benign
17	42227652	G	A	G42227652A	STAT5B	NM_012448.4(STAT5B):c.162C>T:p.Asn54=	coding	Benign
17	42232007	G	A	G42232007A	STAT5B	NM_012448.4(STAT5B):c.121C>T:p.Gln41Ter	coding	Pathogenic
17	42316471	G	A	G42316471A	STAT3	NM_139276.3(STAT3):c.2257+318C>T	noncoding	Benign
17	42317185	G	A	G42317185A	STAT3	NM_139276.3(STAT3):c.2141C>T:p.Thr714Ile	coding	Pathogenic
17	42317210	G	T	G42317210T	STAT3	NM_139276.3(STAT3):c.2116C>A:p.Leu706Met	coding	Pathogenic
17	42322407	A	T	A42322407T	STAT3	NM_139276.3(STAT3):c.1976T>A:p.Ile659Asn	coding	Pathogenic/Likely_pathogenic
17	42322413	T	C	T42322413C	STAT3	NM_139276.3(STAT3):c.1970A>G:p.Tyr657Cys	coding	Pathogenic/Likely_pathogenic
17	42322468	G	C	G42322468C	STAT3	NM_139276.3(STAT3):c.1915C>G:p.Pro639Ala	coding	Pathogenic
17	42322473	A	G	A42322473G	STAT3	NM_139276.3(STAT3):c.1910T>C:p.Val637Ala	coding	Pathogenic
17	42323033	G	C	G42323033C	STAT3	NM_139276.3(STAT3):c.1859C>G:p.Thr620Ser	coding	Pathogenic
17	42323265	G	A	G42323265A	STAT3	NM_139276.3(STAT3):c.1743C>T:p.Asn581=	coding	Benign
17	42324520	C	T	C42324520T	STAT3	NM_139276.3(STAT3):c.1600+191G>A	noncoding	Benign
17	42324549	C	T	C42324549T	STAT3	NM_139276.3(STAT3):c.1600+162G>A	noncoding	Benign
17	42324649	C	G	C42324649G	STAT3	NM_139276.3(STAT3):c.1600+62G>C	noncoding	Benign
17	42324862	C	T	C42324862T	STAT3	NM_139276.3(STAT3):c.1465-16G>A	noncoding	Benign
17	42324928	T	A	T42324928A	STAT3	NM_139276.3(STAT3):c.1464+35A>T	noncoding	Benign
17	42326220	C	T	C42326220T	STAT3	NM_139276.3(STAT3):c.1282-21G>A	noncoding	Benign
17	42329152	A	T	A42329152T	STAT3	NM_139276.3(STAT3):c.1281+258T>A	noncoding	Benign
17	42329511	G	C	G42329511C	STAT3	NM_139276.3(STAT3):c.1233+43C>G	noncoding	Benign
17	42329559	G	A	G42329559A	STAT3	NM_139276.3(STAT3):c.1228C>T:p.His410Tyr	coding	Pathogenic
17	42329778	T	C	T42329778C	STAT3	NM_139276.3(STAT3):c.1110-2A>G	noncoding	Pathogenic
17	42331448	C	A	C42331448A	STAT3	NM_139276.3(STAT3):c.1109+24G>T	noncoding	Benign
17	42333221	G	T	G42333221T	STAT3	NM_139276.3(STAT3):c.1049+452C>A	noncoding	Benign
17	42333728	G	A	G42333728A	STAT3	NM_139276.3(STAT3):c.994C>T:p.His332Tyr	coding	Pathogenic
17	42337723	G	C	G42337723C	STAT3	NM_139276.3(STAT3):c.645+40C>G	noncoding	Benign
17	42338768	G	A	G42338768A	STAT3	NM_139276.3(STAT3):c.513C>T:p.Asp171=	coding	Benign
17	42345810	C	T	C42345810T	STAT3	NM_139276.3(STAT3):c.274-153G>A	noncoding	Benign
17	42345817	C	G	C42345817G	STAT3	NM_139276.3(STAT3):c.274-160G>C	noncoding	Benign
17	42345821	G	C	G42345821C	STAT3	NM_139276.3(STAT3):c.274-164C>G	noncoding	Benign
17	42345822	G	A	G42345822A	STAT3	NM_139276.3(STAT3):c.274-165C>T	noncoding	Benign
17	42346255	T	C	T42346255C	STAT3	NM_139276.3(STAT3):c.273+314A>G	noncoding	Benign
17	42422370	A	C	A42422370C	CAVIN1	NM_012232.6(CAVIN1):c.471+257T>G	noncoding	Benign
17	42422502	G	C	G42422502C	CAVIN1	NM_012232.6(CAVIN1):c.471+125C>G	noncoding	Benign
17	42423355	C	T	C42423355T	CAVIN1	Single_allele	noncoding	Benign
17	42466508	G	A	G42466508A	ATP6V0A1	NM_001130021.3(ATP6V0A1):c.196+1G>A	coding	Pathogenic
17	42495148	T	C	T42495148C	ATP6V0A1	NM_001130021.3(ATP6V0A1):c.1429T>C:p.Ser477Pro	coding	Pathogenic
17	42495669	G	C	G42495669C	ATP6V0A1	NM_001130021.3(ATP6V0A1):c.1513G>C:p.Ala505Pro	coding	Pathogenic
17	42498942	A	G	A42498942G	ATP6V0A1	NM_001130021.3(ATP6V0A1):c.1579A>G:p.Asn527Asp	coding	Pathogenic
17	42498994	G	A	G42498994A	ATP6V0A1	NM_001130021.3(ATP6V0A1):c.1631G>A:p.Gly544Asp	coding	Pathogenic
17	42514451	G	A	G42514451A	ATP6V0A1	NM_001130021.3(ATP6V0A1):c.2411G>A:p.Arg804His	coding	Pathogenic
17	42535761	C	T	C42535761T	NAGLU	Single_allele	noncoding	Benign
17	42536135	A	G	A42536135G	NAGLU	NM_000263.3(NAGLU):c.-138A>G	noncoding	Benign/Likely_benign
17	42536275	G	A	G42536275A	NAGLU	NM_000263.4(NAGLU):c.3G>A:p.Met1Ile	coding	Pathogenic
17	42536276	G	T	G42536276T	NAGLU	NM_000263.4(NAGLU):c.4G>T:p.Glu2Ter	coding	Pathogenic/Likely_pathogenic
17	42536580	G	A	G42536580A	NAGLU	NM_000263.4(NAGLU):c.308G>A:p.Trp103Ter	coding	Pathogenic
17	42536639	G	T	G42536639T	NAGLU	NM_000263.4(NAGLU):c.367G>T:p.Glu123Ter	coding	Pathogenic
17	42537214	G	C	G42537214C	NAGLU	NM_000263.4(NAGLU):c.384-184G>C	noncoding	Benign
17	42537401	C	G	C42537401G	NAGLU	NM_000263.4(NAGLU):c.387C>G:p.Tyr129Ter	coding	Pathogenic
17	42537446	G	A	G42537446A	NAGLU	NM_000263.4(NAGLU):c.432G>A:p.Trp144Ter	coding	Pathogenic
17	42537455	G	A	G42537455A	NAGLU	NM_000263.4(NAGLU):c.441G>A:p.Trp147Ter	coding	Pathogenic
17	42537468	C	T	C42537468T	NAGLU	NM_000263.4(NAGLU):c.454C>T:p.Arg152Ter	coding	Pathogenic
17	42537539	G	A	G42537539A	NAGLU	NM_000263.4(NAGLU):c.525G>A:p.Trp175Ter	coding	Pathogenic
17	42537621	A	G	A42537621G	NAGLU	NM_000263.4(NAGLU):c.531+76A>G	noncoding	Benign
17	42538243	A	G	A42538243G	NAGLU	NM_000263.4(NAGLU):c.532-96A>G	noncoding	Benign
17	42538410	G	A	G42538410A	NAGLU	NM_000263.4(NAGLU):c.603G>A:p.Trp201Ter	coding	Pathogenic
17	42538414	C	T	C42538414T	NAGLU	NM_000263.4(NAGLU):c.607C>T:p.Arg203Ter	coding	Pathogenic
17	42538486	G	A	G42538486A	NAGLU	NM_000263.4(NAGLU):c.678+1G>A	coding	Pathogenic
17	42538592	G	C	G42538592C	NAGLU	NM_000263.4(NAGLU):c.679-78G>C	noncoding	Benign
17	42538649	C	T	C42538649T	NAGLU	NM_000263.4(NAGLU):c.679-21C>T	noncoding	Benign
17	42540949	G	C	G42540949C	NAGLU	NM_000263.4(NAGLU):c.765-1G>C	noncoding	Pathogenic
17	42541221	T	C	T42541221C	NAGLU	NM_000263.4(NAGLU):c.1021+15T>C	noncoding	Benign
17	42541306	C	T	C42541306T	NAGLU	NM_000263.4(NAGLU):c.1021+100C>T	noncoding	Benign
17	42541380	T	C	T42541380C	NAGLU	NM_000263.4(NAGLU):c.1021+174T>C	noncoding	Benign
17	42541480	G	A	G42541480A	NAGLU	NM_000263.4(NAGLU):c.1021+274G>A	noncoding	Benign
17	42542881	G	A	G42542881A	NAGLU	NM_000263.4(NAGLU):c.1022-147G>A	noncoding	Benign
17	42543087	T	C	T42543087C	NAGLU	NM_000263.4(NAGLU):c.1081T>C:p.Trp361Arg	coding	Pathogenic
17	42543168	C	T	C42543168T	NAGLU	NM_000263.4(NAGLU):c.1162C>T:p.Gln388Ter	coding	Pathogenic
17	42543283	G	A	G42543283A	NAGLU	NM_000263.4(NAGLU):c.1277G>A:p.Gly426Asp	coding	Pathogenic
17	42543356	G	A	G42543356A	NAGLU	NM_000263.4(NAGLU):c.1350G>A:p.Gln450=	coding	Benign
17	42543576	C	T	C42543576T	NAGLU	NM_000263.4(NAGLU):c.1570C>T:p.Gln524Ter	coding	Pathogenic
17	42543817	C	T	C42543817T	NAGLU	NM_000263.4(NAGLU):c.1811C>T:p.Pro604Leu	coding	Pathogenic/Likely_pathogenic
17	42561996	C	A	C42561996A	COASY	Single_allele	noncoding	Benign
17	42563801	A	G	A42563801G	COASY	NM_025233.7(COASY):c.701-160A>G	noncoding	Benign
17	42564217	C	T	C42564217T	COASY	NM_025233.7(COASY):c.915+42C>T	noncoding	Benign
17	42565122	C	T	C42565122T	COASY	NM_025233.7(COASY):c.1302+75C>T	noncoding	Benign
17	42565141	C	G	C42565141G	COASY	NM_025233.7(COASY):c.1303-86C>G	noncoding	Benign
17	42565740	C	T	C42565740T	COASY	NM_025233.7(COASY):c.1567C>T:p.Gln523Ter	coding	Pathogenic
17	42570011	A	G	A42570011G	MLX	NM_198204.2(MLX):c.506A>G:p.Gln169Arg	coding	Benign
17	42572959	G	A	G42572959A	PSMC3IP	NM_016556.4(PSMC3IP):c.*9C>T	noncoding	Benign
17	42573638	G	C	G42573638C	PSMC3IP	NM_016556.4(PSMC3IP):c.338-15C>G	noncoding	Benign
17	42573770	A	G	A42573770G	PSMC3IP	NM_016556.4(PSMC3IP):c.338-147T>C	noncoding	Benign
17	42573781	C	T	C42573781T	PSMC3IP	NM_016556.4(PSMC3IP):c.338-158G>A	noncoding	Benign
17	42574011	G	A	G42574011A	PSMC3IP	NM_016556.4(PSMC3IP):c.337+88C>T	coding	Benign
17	42577134	C	T	C42577134T	PSMC3IP	NM_016556.4(PSMC3IP):c.225+79G>A	coding	Benign
17	42609109	G	A	G42609109A	TUBG1	NM_178126.4(RETREG3):c.216C>T:p.Cys72=	coding	Benign
17	42609235	C	T	C42609235T	TUBG1	NM_178126.4(RETREG3):c.90G>A:p.Glu30=	coding	Benign
17	42609261	G	A	G42609261A	TUBG1	NM_178126.4(RETREG3):c.64C>T:p.Arg22Cys	coding	Benign
17	42609299	G	A	G42609299A	TUBG1	NM_178126.4(RETREG3):c.26C>T:p.Thr9Met	coding	Benign
17	42609333	G	C	G42609333C	TUBG1	NM_178126.4(RETREG3):c.-9C>G	noncoding	Benign
17	42609530	C	G	C42609530G	TUBG1	Single_allele	noncoding	Benign
17	42609610	A	G	A42609610G	TUBG1	Single_allele	noncoding	Benign
17	42609732	G	A	G42609732A	TUBG1	NM_001070.5(TUBG1):c.-6G>A	noncoding	Benign
17	42612914	T	G	T42612914G	TUBG1	NM_001070.5(TUBG1):c.480-33T>G	noncoding	Benign
17	42614454	G	T	G42614454T	TUBG1	NM_001070.5(TUBG1):c.996+42G>T	noncoding	Benign
17	42614520	C	T	C42614520T	TUBG1	NM_001070.5(TUBG1):c.1021C>T:p.Arg341Trp	coding	Pathogenic/Likely_pathogenic
17	42614521	G	A	G42614521A	TUBG1	NM_001070.5(TUBG1):c.1022G>A:p.Arg341Gln	coding	Pathogenic
17	42614645	C	G	C42614645G	TUBG1	NM_001070.5(TUBG1):c.1146C>G:p.Thr382=	coding	Benign
17	42614678	C	G	C42614678G	TUBG1	NM_001070.5(TUBG1):c.1158+21C>G	noncoding	Benign
17	42614698	T	C	T42614698C	TUBG1	NM_001070.5(TUBG1):c.1158+41T>C	noncoding	Benign
17	42614840	C	T	C42614840T	TUBG1	NM_001070.5(TUBG1):c.1159-4C>T	noncoding	Benign
17	42614996	G	A	G42614996A	TUBG1	NM_001070.5(TUBG1):c.1311G>A:p.Ala437=	coding	Benign
17	42666681	A	G	A42666681G	TUBG2	NM_016437.3(TUBG2):c.1237A>G:p.Met413Val	coding	Benign
17	42682613	G	C	G42682613C	CNTNAP1	NM_003632.3(CNTNAP1):c.-217G>C	noncoding	Benign
17	42683596	A	C	A42683596C	CNTNAP1	NM_003632.3(CNTNAP1):c.68-225A>C	noncoding	Benign
17	42683631	T	C	T42683631C	CNTNAP1	NM_003632.3(CNTNAP1):c.68-190T>C	noncoding	Benign
17	42683802	G	A	G42683802A	CNTNAP1	NM_003632.3(CNTNAP1):c.68-19G>A	noncoding	Benign
17	42684240	C	A	C42684240A	CNTNAP1	NM_003632.3(CNTNAP1):c.363+11C>A	noncoding	Benign
17	42684244	A	C	A42684244C	CNTNAP1	NM_003632.3(CNTNAP1):c.363+15A>C	noncoding	Benign
17	42684434	A	G	A42684434G	CNTNAP1	NM_003632.3(CNTNAP1):c.363+205A>G	noncoding	Benign
17	42684957	A	G	A42684957G	CNTNAP1	NM_003632.3(CNTNAP1):c.364-34A>G	noncoding	Benign
17	42686385	T	A	T42686385A	CNTNAP1	NM_003632.3(CNTNAP1):c.900+244T>A	noncoding	Benign
17	42686386	T	A	T42686386A	CNTNAP1	NM_003632.3(CNTNAP1):c.900+245T>A	noncoding	Benign
17	42686735	C	G	C42686735G	CNTNAP1	NM_003632.3(CNTNAP1):c.901-168C>G	noncoding	Benign
17	42686811	T	C	T42686811C	CNTNAP1	NM_003632.3(CNTNAP1):c.901-92T>C	noncoding	Benign
17	42686889	C	T	C42686889T	CNTNAP1	NM_003632.3(CNTNAP1):c.901-14C>T	noncoding	Benign
17	42687997	G	A	G42687997A	CNTNAP1	NM_003632.3(CNTNAP1):c.1306+16G>A	noncoding	Benign
17	42688052	G	A	G42688052A	CNTNAP1	NM_003632.3(CNTNAP1):c.1306+71G>A	noncoding	Benign
17	42688983	G	C	G42688983C	CNTNAP1	NM_003632.3(CNTNAP1):c.1564G>C:p.Val522Leu	coding	Benign
17	42689052	C	T	C42689052T	CNTNAP1	NM_003632.3(CNTNAP1):c.1628+5C>T	noncoding	Benign/Likely_benign
17	42689192	T	C	T42689192C	CNTNAP1	NM_003632.3(CNTNAP1):c.1628+145T>C	noncoding	Benign
17	42689379	C	T	C42689379T	CNTNAP1	NM_003632.3(CNTNAP1):c.1629-142C>T	noncoding	Benign
17	42689800	G	A	G42689800A	CNTNAP1	NM_003632.3(CNTNAP1):c.1735+173G>A	noncoding	Benign
17	42689888	A	G	A42689888G	CNTNAP1	NM_003632.3(CNTNAP1):c.1736-200A>G	noncoding	Benign
17	42690066	G	A	G42690066A	CNTNAP1	NM_003632.3(CNTNAP1):c.1736-22G>A	noncoding	Benign
17	42690222	T	C	T42690222C	CNTNAP1	NM_003632.3(CNTNAP1):c.1855+15T>C	noncoding	Benign
17	42690423	T	C	T42690423C	CNTNAP1	NM_003632.3(CNTNAP1):c.1855+216T>C	noncoding	Benign
17	42690744	C	A	C42690744A	CNTNAP1	NM_003632.3(CNTNAP1):c.1861C>A:p.Arg621=	coding	Benign
17	42691135	A	C	A42691135C	CNTNAP1	NM_003632.3(CNTNAP1):c.2060-2A>C	noncoding	Pathogenic
17	42691374	G	T	G42691374T	CNTNAP1	NM_003632.3(CNTNAP1):c.2217-10G>T	noncoding	Benign
17	42691964	C	T	C42691964T	CNTNAP1	NM_003632.3(CNTNAP1):c.2503C>T:p.Arg835Ter	coding	Pathogenic
17	42691976	C	T	C42691976T	CNTNAP1	NM_003632.3(CNTNAP1):c.2515C>T:p.Arg839Trp	coding	Pathogenic
17	42692328	G	A	G42692328A	CNTNAP1	NM_003632.3(CNTNAP1):c.2531-171G>A	noncoding	Benign
17	42693355	C	T	C42693355T	CNTNAP1	NM_003632.3(CNTNAP1):c.2811C>T:p.Asn937=	coding	Benign
17	42696039	C	T	C42696039T	CNTNAP1	NM_003632.3(CNTNAP1):c.3361C>T:p.Arg1121Ter	coding	Pathogenic
17	42696125	C	T	C42696125T	CNTNAP1	NM_003632.3(CNTNAP1):c.3447C>T:p.Thr1149=	coding	Benign/Likely_benign
17	42697555	G	A	G42697555A	CNTNAP1	NM_003632.3(CNTNAP1):c.3570G>A:p.Glu1190=	coding	Benign
17	42697824	A	G	A42697824G	CNTNAP1	NM_003632.3(CNTNAP1):c.3814+25A>G	noncoding	Benign
17	42697970	A	C	A42697970C	CNTNAP1	NM_003632.3(CNTNAP1):c.3862+20A>C	noncoding	Benign
17	42698733	C	T	C42698733T	CNTNAP1	NM_003632.3(CNTNAP1):c.3978C>T:p.Tyr1326=	coding	Benign
17	42780435	G	C	G42780435C	WNK4	Single_allele	noncoding	Benign
17	42780596	G	C	G42780596C	WNK4	Single_allele	noncoding	Benign
17	42781204	C	T	C42781204T	WNK4	NM_032387.5(WNK4):c.506C>T:p.Pro169Leu	coding	Pathogenic
17	42782648	C	G	C42782648G	WNK4	NM_032387.5(WNK4):c.619-110C>G	noncoding	Benign
17	42784724	G	A	G42784724A	WNK4	NM_032387.5(WNK4):c.1170+145G>A	noncoding	Benign
17	42784909	A	G	A42784909G	WNK4	NM_032387.5(WNK4):c.1171-188A>G	noncoding	Benign
17	42787077	G	A	G42787077A	WNK4	NM_032387.5(WNK4):c.1477-201G>A	noncoding	Benign
17	42787214	C	T	C42787214T	WNK4	NM_032387.5(WNK4):c.1477-64C>T	noncoding	Benign
17	42788561	G	A	G42788561A	WNK4	NM_032387.5(WNK4):c.2041-120G>A	noncoding	Benign
17	42788895	G	A	G42788895A	WNK4	NM_032387.5(WNK4):c.2157+98G>A	noncoding	Benign
17	42793511	G	C	G42793511C	WNK4	NM_032387.5(WNK4):c.2158-81G>C	noncoding	Benign
17	42793855	G	A	G42793855A	WNK4	NM_032387.5(WNK4):c.2295+126G>A	noncoding	Benign
17	42795422	C	T	C42795422T	WNK4	NM_032387.5(WNK4):c.2962-39C>T	noncoding	Benign
17	42900800	G	A	G42900800A	G6PC1	NM_000151.4(G6PC1):c.-77G>A	noncoding	Benign/Likely_benign
17	42900930	C	A	C42900930A	G6PC1	NM_000151.4(G6PC1):c.54C>A:p.Tyr18Ter	coding	Pathogenic
17	42900946	C	T	C42900946T	G6PC1	NM_000151.4(G6PC1):c.70C>T:p.Gln24Ter	coding	Pathogenic
17	42900955	C	T	C42900955T	G6PC1	NM_000151.4(G6PC1):c.79C>T:p.Gln27Ter	coding	Pathogenic/Likely_pathogenic
17	42903930	G	A	G42903930A	G6PC1	NM_000151.4(G6PC1):c.231-1G>A	noncoding	Pathogenic/Likely_pathogenic
17	42904082	C	T	C42904082T	G6PC1	NM_000151.4(G6PC1):c.340+42C>T	noncoding	Benign/Likely_benign
17	42904228	A	G	A42904228G	G6PC1	NM_000151.4(G6PC1):c.340+188A>G	noncoding	Benign
17	42904243	T	G	T42904243G	G6PC1	NM_000151.4(G6PC1):c.340+203T>G	noncoding	Benign
17	42904266	T	C	T42904266C	G6PC1	NM_000151.4(G6PC1):c.340+226T>C	noncoding	Benign
17	42907384	C	T	C42907384T	G6PC1	NM_000151.4(G6PC1):c.341-139C>T	noncoding	Benign
17	42907534	G	A	G42907534A	G6PC1	NM_000151.4(G6PC1):c.352G>A:p.Gly118Ser	coding	Pathogenic
17	42907537	C	G	C42907537G	G6PC1	NM_000151.4(G6PC1):c.355C>G:p.His119Asp	coding	Pathogenic
17	42907547	G	A	G42907547A	G6PC1	NM_000151.4(G6PC1):c.365G>A:p.Gly122Asp	coding	Pathogenic
17	42907701	A	G	A42907701G	G6PC1	NM_000151.4(G6PC1):c.446+73A>G	noncoding	Benign
17	42907778	A	G	A42907778G	G6PC1	NM_000151.4(G6PC1):c.446+150A>G	noncoding	Benign
17	42909245	T	A	T42909245A	G6PC1	NM_000151.4(G6PC1):c.447-58T>A	noncoding	Benign
17	42909323	G	T	G42909323T	G6PC1	NM_000151.4(G6PC1):c.467G>T:p.Trp156Leu	coding	Pathogenic/Likely_pathogenic
17	42909324	G	A	G42909324A	G6PC1	NM_000151.4(G6PC1):c.468G>A:p.Trp156Ter	coding	Pathogenic
17	42909362	C	G	C42909362G	G6PC1	NM_000151.4(G6PC1):c.506C>G:p.Ser169Ter	coding	Pathogenic
17	42909389	C	T	C42909389T	G6PC1	NM_000151.4(G6PC1):c.533C>T:p.Pro178Leu	coding	Pathogenic
17	42909406	G	T	G42909406T	G6PC1	NM_000151.4(G6PC1):c.550G>T:p.Gly184Ter	coding	Pathogenic
17	42909472	T	C	T42909472C	G6PC1	NM_000151.4(G6PC1):c.562+54T>C	noncoding	Benign
17	42910962	G	T	G42910962T	G6PC1	NM_000151.4(G6PC1):c.610G>T:p.Ala204Ser	coding	Benign
17	42910978	A	G	A42910978G	G6PC1	NM_000151.4(G6PC1):c.626A>G:p.Tyr209Cys	coding	Pathogenic
17	42911060	G	A	G42911060A	G6PC1	NM_000151.4(G6PC1):c.708G>A:p.Trp236Ter	coding	Pathogenic
17	42911102	G	A	G42911102A	G6PC1	NM_000151.4(G6PC1):c.750G>A:p.Trp250Ter	coding	Pathogenic
17	42911420	G	A	G42911420A	G6PC1	NM_000151.4(G6PC1):c.1068G>A:p.Ser356=	coding	Benign/Likely_benign
17	42998454	G	C	G42998454C	RPL27	NM_000988.5(RPL27):c.-20G>C	noncoding	Benign
17	42998504	C	T	C42998504T	RPL27	NM_000988.5(RPL27):c.-3+33C>T	noncoding	Benign
17	42998932	G	A	G42998932A	RPL27	NM_000988.5(RPL27):c.81+101G>A	noncoding	Benign
17	42998966	T	C	T42998966C	RPL27	NM_000988.5(RPL27):c.81+135T>C	noncoding	Benign
17	42999726	G	A	G42999726A	RPL27	NM_000988.5(RPL27):c.82-207G>A	noncoding	Benign
17	43002583	C	T	C43002583T	RPL27	NM_000988.5(RPL27):c.252-90C>T	noncoding	Benign
17	43002800	A	C	A43002800C	RPL27	NM_000988.5(RPL27):c.362+17A>C	noncoding	Benign
17	43003227	C	T	C43003227T	RPL27	Single_allele	noncoding	Benign
17	43044928	T	C	T43044928C	BRCA1	NM_007294.4(BRCA1):c.*750A>G	noncoding	Benign/Likely_benign
17	43045726	C	T	C43045726T	BRCA1	NM_007294.4(BRCA1):c.5544G>A:p.Gln1848_Glu1849=	coding	Benign/Likely_benign
17	43047634	G	A	G43047634A	BRCA1	NM_007294.4(BRCA1):c.5467+9C>T	noncoding	Benign/Likely_benign
17	43047701	A	G	A43047701G	BRCA1	NM_007294.4(BRCA1):c.5409T>C:p.Gly1803_Val1804=	coding	Benign/Likely_benign
17	43049119	A	T	A43049119T	BRCA1	NM_007294.4(BRCA1):c.5406+2T>A	noncoding	Pathogenic
17	43049180	T	A	T43049180A	BRCA1	NM_007294.4(BRCA1):c.5347A>T:p.Met1783Leu	coding	Benign
17	43049193	A	G	A43049193G	BRCA1	NM_007294.4(BRCA1):c.5334T>C:p.Asp1778_Gln1779=	coding	Benign/Likely_benign
17	43051064	T	A	T43051064A	BRCA1	NM_007294.4(BRCA1):c.5331A>T:p.Thr1777_Asp1778=	coding	Benign/Likely_benign
17	43057010	G	T	G43057010T	BRCA1	NM_007294.4(BRCA1):c.5277+42C>A	noncoding	Benign
17	43057074	G	T	G43057074T	BRCA1	NM_007294.4(BRCA1):c.5255C>A:p.Ala1752Glu	coding	Pathogenic
17	43057086	C	T	C43057086T	BRCA1	NM_007294.4(BRCA1):c.5243G>A:p.Gly1748Asp	coding	Pathogenic/Likely_pathogenic
17	43057113	T	A	T43057113A	BRCA1	NM_007294.4(BRCA1):c.5216A>T:p.Asp1739Val	coding	Pathogenic/Likely_pathogenic
17	43057153	C	A	C43057153A	BRCA1	NM_007294.4(BRCA1):c.5194-18G>T	noncoding	Benign/Likely_benign
17	43063885	A	C	A43063885C	BRCA1	NM_007294.4(BRCA1):c.5141T>G:p.Val1714Gly	coding	Pathogenic/Likely_pathogenic
17	43063888	A	C	A43063888C	BRCA1	NM_007294.4(BRCA1):c.5138T>G:p.Val1713Gly	coding	Pathogenic
17	43063908	T	A	T43063908A	BRCA1	NM_007294.4(BRCA1):c.5118A>T:p.Gly1706_Ile1707=	coding	Benign
17	43063943	A	C	A43063943C	BRCA1	NM_007294.4(BRCA1):c.5083T>G:p.Phe1695Val	coding	Pathogenic
17	43067610	G	A	G43067610A	BRCA1	NM_007294.4(BRCA1):c.5072C>T:p.Thr1691Ile	coding	Pathogenic/Likely_pathogenic
17	43067610	G	T	G43067610T	BRCA1	NM_007294.4(BRCA1):c.5072C>A:p.Thr1691Lys	coding	Pathogenic/Likely_pathogenic
17	43067698	G	C	G43067698C	BRCA1	NM_007294.4(BRCA1):c.4987-3C>G	noncoding	Pathogenic/Likely_pathogenic
17	43067699	A	C	A43067699C	BRCA1	NM_007294.4(BRCA1):c.4987-4T>G	noncoding	Benign/Likely_benign
17	43070989	G	T	G43070989T	BRCA1	NM_007294.4(BRCA1):c.4925C>A:p.Ser1642Ter	coding	Pathogenic
17	43071002	C	A	C43071002A	BRCA1	NM_007294.4(BRCA1):c.4912G>T:p.Glu1638Ter	coding	Pathogenic
17	43071026	C	A	C43071026A	BRCA1	NM_007294.4(BRCA1):c.4888G>T:p.Glu1630Ter	coding	Pathogenic/Likely_pathogenic
17	43071089	C	A	C43071089A	BRCA1	NM_007294.4(BRCA1):c.4825G>T:p.Glu1609Ter	coding	Pathogenic
17	43071215	C	A	C43071215A	BRCA1	NM_007294.4(BRCA1):c.4699G>T:p.Gly1567Ter	coding	Pathogenic
17	43071254	G	C	G43071254C	BRCA1	NM_007294.4(BRCA1):c.4676-16C>G	noncoding	Benign/Likely_benign
17	43074276	T	C	T43074276C	BRCA1	NM_007294.4(BRCA1):c.4675+55A>G	noncoding	Benign
17	43074418	T	A	T43074418A	BRCA1	NM_007294.4(BRCA1):c.4588A>T:p.Lys1530Ter	coding	Pathogenic
17	43076449	T	C	T43076449C	BRCA1	NM_007294.4(BRCA1):c.4484+39A>G	noncoding	Benign
17	43082576	C	A	C43082576A	BRCA1	NM_007294.4(BRCA1):c.4186-1G>T	coding	Pathogenic
17	43090930	C	G	C43090930G	BRCA1	NM_007294.4(BRCA1):c.4185+14G>C	noncoding	Benign/Likely_benign
17	43091052	G	A	G43091052A	BRCA1	NM_007294.4(BRCA1):c.4097-20C>T	noncoding	Benign/Likely_benign
17	43091111	T	C	T43091111C	BRCA1	NM_007294.4(BRCA1):c.4097-79A>G	noncoding	Benign
17	43091399	T	C	T43091399C	BRCA1	NM_007294.4(BRCA1):c.4096+36A>G	noncoding	Benign
17	43091495	C	T	C43091495T	BRCA1	NM_007294.4(BRCA1):c.4036G>A:p.Glu1346Lys	coding	Benign/Likely_benign
17	43091512	A	T	A43091512T	BRCA1	NM_007294.4(BRCA1):c.4019T>A:p.Leu1340Ter	coding	Pathogenic/Likely_pathogenic
17	43091631	G	T	G43091631T	BRCA1	NM_007294.4(BRCA1):c.3900C>A:p.Cys1300Ter	coding	Pathogenic
17	43091687	C	A	C43091687A	BRCA1	NM_007294.4(BRCA1):c.3844G>T:p.Glu1282Ter	coding	Pathogenic
17	43091930	C	T	C43091930T	BRCA1	NM_007294.4(BRCA1):c.3601G>A:p.Gly1201Ser	coding	Benign/Likely_benign
17	43091981	C	A	C43091981A	BRCA1	NM_007294.4(BRCA1):c.3550G>T:p.Gly1184Ter	coding	Pathogenic
17	43092096	A	G	A43092096G	BRCA1	NM_007294.4(BRCA1):c.3435T>C:p.Val1145_Cys1146=	coding	Benign/Likely_benign
17	43092257	C	A	C43092257A	BRCA1	NM_007294.4(BRCA1):c.3274G>T:p.Glu1092Ter	coding	Pathogenic
17	43092296	T	A	T43092296A	BRCA1	NM_007294.4(BRCA1):c.3235A>T:p.Lys1079Ter	coding	Pathogenic
17	43092395	C	A	C43092395A	BRCA1	NM_007294.4(BRCA1):c.3136G>T:p.Glu1046Ter	coding	Pathogenic
17	43092500	C	A	C43092500A	BRCA1	NM_007294.4(BRCA1):c.3031G>T:p.Glu1011Ter	coding	Pathogenic
17	43092549	A	T	A43092549T	BRCA1	NM_007294.4(BRCA1):c.2982T>A:p.Cys994Ter	coding	Pathogenic
17	43092704	T	A	T43092704A	BRCA1	NM_007294.4(BRCA1):c.2827A>T:p.Lys943Ter	coding	Pathogenic
17	43093031	C	A	C43093031A	BRCA1	NM_007294.4(BRCA1):c.2500G>T:p.Gly834Ter	coding	Pathogenic
17	43093180	G	T	G43093180T	BRCA1	NM_007294.4(BRCA1):c.2351C>A:p.Ser784Ter	coding	Pathogenic/Likely_pathogenic
17	43093190	C	A	C43093190A	BRCA1	NM_007294.4(BRCA1):c.2341G>T:p.Glu781Ter	coding	Pathogenic
17	43093196	T	A	T43093196A	BRCA1	NM_007294.4(BRCA1):c.2335A>T:p.Thr779Ser	coding	Benign
17	43093250	C	A	C43093250A	BRCA1	NM_007294.4(BRCA1):c.2281G>T:p.Glu761Ter	coding	Pathogenic
17	43093298	C	A	C43093298A	BRCA1	NM_007294.4(BRCA1):c.2233G>T:p.Glu745Ter	coding	Pathogenic
17	43093523	C	A	C43093523A	BRCA1	NM_007294.4(BRCA1):c.2008G>T:p.Glu670Ter	coding	Pathogenic
17	43093557	C	T	C43093557T	BRCA1	NM_007294.4(BRCA1):c.1974G>A:p.Met658Ile	coding	Benign
17	43093811	G	A	G43093811A	BRCA1	NM_007294.4(BRCA1):c.1720C>T:p.Leu574Phe	coding	Benign
17	43093928	C	A	C43093928A	BRCA1	NM_007294.4(BRCA1):c.1603G>T:p.Gly535Ter	coding	Pathogenic
17	43094048	C	A	C43094048A	BRCA1	NM_007294.4(BRCA1):c.1483G>T:p.Glu495Ter	coding	Pathogenic
17	43094073	A	T	A43094073T	BRCA1	NM_007294.4(BRCA1):c.1458T>A:p.Phe486Leu	coding	Benign/Likely_benign
17	43094136	A	C	A43094136C	BRCA1	NM_007294.4(BRCA1):c.1395T>G:p.Tyr465Ter	coding	Pathogenic
17	43094162	C	A	C43094162A	BRCA1	NM_007294.4(BRCA1):c.1369G>T:p.Glu457Ter	coding	Pathogenic
17	43094219	C	A	C43094219A	BRCA1	NM_007294.4(BRCA1):c.1312G>T:p.Glu438Ter	coding	Pathogenic
17	43094505	C	T	C43094505T	BRCA1	NM_007294.4(BRCA1):c.1026G>A:p.Leu342_Asn343=	coding	Benign/Likely_benign
17	43094516	T	A	T43094516A	BRCA1	NM_007294.4(BRCA1):c.1015A>T:p.Lys339Ter	coding	Pathogenic
17	43094522	C	A	C43094522A	BRCA1	NM_007294.4(BRCA1):c.1009G>T:p.Glu337Ter	coding	Pathogenic
17	43094593	A	C	A43094593C	BRCA1	NM_007294.4(BRCA1):c.938T>G:p.Leu313Ter	coding	Pathogenic
17	43094725	A	T	A43094725T	BRCA1	NM_007294.4(BRCA1):c.806T>A:p.Leu269Ter	coding	Pathogenic
17	43094822	C	A	C43094822A	BRCA1	NM_007294.4(BRCA1):c.709G>T:p.Glu237Ter	coding	Pathogenic
17	43095853	T	C	T43095853C	BRCA1	NM_007294.4(BRCA1):c.663A>G:p.Ala221_Lys222=	coding	Benign/Likely_benign
17	43095864	A	C	A43095864C	BRCA1	NM_007294.4(BRCA1):c.652T>G:p.Leu218Val	coding	Benign
17	43095956	A	G	A43095956G	BRCA1	NM_007294.4(BRCA1):c.594-34T>C	noncoding	Benign/Likely_benign
17	43099767	A	C	A43099767C	BRCA1	NM_007294.4(BRCA1):c.547+8T>G	noncoding	Benign/Likely_benign
17	43104232	C	A	C43104232A	BRCA1	NM_007294.4(BRCA1):c.331G>T:p.Glu111Ter	coding	Pathogenic
17	43104856	T	G	T43104856G	BRCA1	NM_007294.4(BRCA1):c.301+12A>C	noncoding	Benign/Likely_benign
17	43104882	T	A	T43104882A	BRCA1	NM_007294.4(BRCA1):c.287A>T:p.Asp96Val	coding	Pathogenic
17	43104882	T	C	T43104882C	BRCA1	NM_007294.4(BRCA1):c.287A>G:p.Asp96Gly	coding	Pathogenic/Likely_pathogenic
17	43104961	A	T	A43104961T	BRCA1	NM_007294.4(BRCA1):c.213-5T>A	noncoding	Pathogenic/Likely_pathogenic
17	43106452	A	G	A43106452G	BRCA1	NM_007294.4(BRCA1):c.212+4T>C	noncoding	Benign/Likely_benign
17	43106556	G	A	G43106556A	BRCA1	NM_007294.4(BRCA1):c.135-23C>T	noncoding	Benign/Likely_benign
17	43106560	A	T	A43106560T	BRCA1	NM_007294.4(BRCA1):c.135-27T>A	noncoding	Benign/Likely_benign
17	43115721	C	G	C43115721G	BRCA1	NM_007294.4(BRCA1):c.134+5G>C	noncoding	Pathogenic
17	43115721	C	T	C43115721T	BRCA1	NM_007294.4(BRCA1):c.134+5G>A	noncoding	Pathogenic/Likely_pathogenic
17	43119415	G	A	G43119415A	BRCA1	NM_007294.4(BRCA1):c.81-3636C>T	noncoding	Benign/Likely_benign
17	43119976	G	C	G43119976C	BRCA1	NM_007294.4(BRCA1):c.80+4041C>G	noncoding	Benign
17	43124030	C	A	C43124030A	BRCA1	NM_007294.4(BRCA1):c.67G>T:p.Glu23Ter	coding	Pathogenic
17	43125358	T	A	T43125358A	BRCA1	NM_007294.4(BRCA1):c.-107A>T	noncoding	Pathogenic
17	43529343	G	A	G43529343A	ETV4	NM_001079675.5(ETV4):c.1129-107C>T	noncoding	Benign
17	43530609	C	T	C43530609T	ETV4	NM_001079675.5(ETV4):c.812-428G>A	noncoding	Benign
17	43530635	T	A	T43530635A	ETV4	NM_001079675.5(ETV4):c.812-454A>T	noncoding	Benign
17	43536323	G	T	G43536323T	ETV4	NM_001079675.5(ETV4):c.256+103C>A	noncoding	Benign
17	43545139	A	G	A43545139G	ETV4	NM_001079675.5(ETV4):c.155-117T>C	noncoding	Benign
17	43545372	G	T	G43545372T	ETV4	NM_001079675.5(ETV4):c.61-5C>A	noncoding	Benign
17	43545844	G	A	G43545844A	ETV4	NM_001079675.5(ETV4):c.-51-176C>T	noncoding	Benign
17	43642252	G	A	G43642252A	MEOX1	NM_004527.4(MEOX1):c.643-220C>T	noncoding	Benign
17	43643484	G	T	G43643484T	MEOX1	NM_004527.4(MEOX1):c.642+4C>A	noncoding	Benign
17	43643676	C	T	C43643676T	MEOX1	NM_004527.4(MEOX1):c.470-16G>A	noncoding	Benign
17	43643834	T	C	T43643834C	MEOX1	NM_004527.4(MEOX1):c.470-174A>G	noncoding	Benign
17	43660848	T	C	T43660848C	MEOX1	NM_004527.4(MEOX1):c.469+218A>G	noncoding	Benign
17	43952807	G	T	G43952807T	PYY	NM_001394028.1(PYY):c.*149C>A	noncoding	Benign
17	43953041	G	A	G43953041A	PYY	NM_001394028.1(PYY):c.270-61C>T	noncoding	Benign
17	43953163	G	C	G43953163C	PYY	NM_001394028.1(PYY):c.215C>G:p.Thr72Arg	coding	Benign
17	43953963	C	T	C43953963T	PYY	NM_004160.6(PYY):c.-114G>A	noncoding	Benign
17	44001322	C	A	C44001322A	PYY	NM_004160.6(PYY):c.-463+3069G>T	noncoding	Benign
17	44004962	C	A	C44004962A	NAGS	NM_153006.3(NAGS):c.299C>A:p.Ser100Ter	coding	Pathogenic
17	44005031	G	A	G44005031A	NAGS	NM_153006.3(NAGS):c.368G>A:p.Trp123Ter	coding	Pathogenic
17	44005053	C	A	C44005053A	NAGS	NM_153006.3(NAGS):c.390C>A:p.Cys130Ter	coding	Pathogenic
17	44005108	G	A	G44005108A	NAGS	NM_153006.3(NAGS):c.426+19G>A	noncoding	Benign
17	44005273	C	T	C44005273T	NAGS	NM_153006.3(NAGS):c.426+184C>T	noncoding	Benign
17	44005313	T	A	T44005313A	NAGS	NM_153006.3(NAGS):c.426+224T>A	noncoding	Benign
17	44005832	C	T	C44005832T	NAGS	NM_153006.3(NAGS):c.622C>T:p.Arg208Ter	coding	Pathogenic/Likely_pathogenic
17	44006046	G	T	G44006046T	NAGS	NM_153006.3(NAGS):c.724G>T:p.Glu242Ter	coding	Pathogenic
17	44006061	C	T	C44006061T	NAGS	NM_153006.3(NAGS):c.739C>T:p.Gln247Ter	coding	Pathogenic
17	44006099	C	A	C44006099A	NAGS	NM_153006.3(NAGS):c.777C>A:p.Cys259Ter	coding	Pathogenic
17	44007087	C	T	C44007087T	NAGS	NM_153006.3(NAGS):c.1097-236C>T	noncoding	Benign
17	44007322	G	C	G44007322C	NAGS	NM_153006.3(NAGS):c.1097-1G>C	noncoding	Pathogenic
17	44007505	G	A	G44007505A	NAGS	NM_153006.3(NAGS):c.1268+11G>A	noncoding	Benign/Likely_benign
17	44007594	C	G	C44007594G	NAGS	NM_153006.3(NAGS):c.1272C>G:p.Tyr424Ter	coding	Pathogenic
17	44007614	C	T	C44007614T	NAGS	NM_153006.3(NAGS):c.1292C>T:p.Thr431Ile	coding	Pathogenic
17	44071109	C	A	C44071109A	G6PC3	NM_138387.4(G6PC3):c.144C>A:p.Tyr48Ter	coding	Pathogenic
17	44071184	G	A	G44071184A	G6PC3	NM_138387.4(G6PC3):c.218+1G>A	coding	Pathogenic
17	44075143	T	A	T44075143A	G6PC3	NM_138387.4(G6PC3):c.535+56T>A	noncoding	Benign
17	44087517	G	C	G44087517C	HDAC5	NM_005474.5(HDAC5):c.1779C>G:p.Asp593Glu	coding	Benign
17	44210151	C	T	C44210151T	UBTF	NM_014233.4(UBTF):c.1599G>A:p.Lys533=	coding	Benign
17	44210760	T	G	T44210760G	UBTF	NM_014233.4(UBTF):c.1359+32A>C	noncoding	Benign
17	44211293	G	A	G44211293A	UBTF	NM_014233.4(UBTF):c.1086C>T:p.Leu362=	coding	Benign
17	44211846	G	A	G44211846A	UBTF	NM_014233.4(UBTF):c.905+27C>T	noncoding	Benign
17	44212647	G	A	G44212647A	UBTF	NM_014233.4(UBTF):c.660+172C>T	noncoding	Benign
17	44213411	C	T	C44213411T	UBTF	NM_014233.4(UBTF):c.475-129G>A	noncoding	Benign
17	44215877	C	T	C44215877T	UBTF	NM_014233.4(UBTF):c.318+29G>A	noncoding	Benign
17	44216015	G	C	G44216015C	UBTF	NM_014233.4(UBTF):c.235-26C>G	noncoding	Benign
17	44216830	G	C	G44216830C	UBTF	NM_014233.4(UBTF):c.59-126C>G	noncoding	Benign
17	44216847	G	A	G44216847A	UBTF	NM_014233.4(UBTF):c.59-143C>T	noncoding	Benign
17	44250502	C	A	C44250502A	SLC4A1	NM_000342.4(SLC4A1):c.2692G>T:p.Glu898Ter	coding	Pathogenic
17	44251241	G	T	G44251241T	SLC4A1	NM_000342.4(SLC4A1):c.2573C>A:p.Ala858Asp	coding	Pathogenic/Likely_pathogenic
17	44251313	T	G	T44251313G	SLC4A1	NM_000342.4(SLC4A1):c.2501A>C:p.His834Pro	coding	Pathogenic
17	44251477	C	T	C44251477T	SLC4A1	NM_000342.4(SLC4A1):c.2423G>A:p.Arg808His	coding	Pathogenic/Likely_pathogenic
17	44251636	A	C	A44251636C	SLC4A1	NM_000342.4(SLC4A1):c.2312-48T>G	noncoding	Benign
17	44252803	A	C	A44252803C	SLC4A1	NM_000342.4(SLC4A1):c.2311+315T>G	noncoding	Benign
17	44253160	T	A	T44253160A	SLC4A1	NM_000342.4(SLC4A1):c.2269A>T:p.Lys757Ter	coding	Pathogenic
17	44253241	G	A	G44253241A	SLC4A1	NM_000342.4(SLC4A1):c.2188C>T:p.Arg730Cys	coding	Pathogenic
17	44253260	C	T	C44253260T	SLC4A1	NM_000342.4(SLC4A1):c.2169G>A:p.Trp723Ter	coding	Pathogenic/Likely_pathogenic
17	44254495	C	G	C44254495G	SLC4A1	NM_000342.4(SLC4A1):c.2057+1G>C	noncoding	Pathogenic
17	44254495	C	T	C44254495T	SLC4A1	NM_000342.4(SLC4A1):c.2057+1G>A	noncoding	Pathogenic
17	44255435	C	T	C44255435T	SLC4A1	NM_000342.4(SLC4A1):c.1801-139G>A	noncoding	Benign
17	44257350	C	T	C44257350T	SLC4A1	NM_000342.4(SLC4A1):c.1626G>A:p.Lys542=	coding	Pathogenic
17	44257508	G	A	G44257508A	SLC4A1	NM_000342.4(SLC4A1):c.1468C>T:p.Arg490Cys	coding	Pathogenic/Likely_pathogenic
17	44257582	T	C	T44257582C	SLC4A1	NM_000342.4(SLC4A1):c.1432-38A>G	noncoding	Benign
17	44257658	C	T	C44257658T	SLC4A1	NM_000342.4(SLC4A1):c.1431+1G>A	noncoding	Pathogenic
17	44258151	G	A	G44258151A	SLC4A1	NM_000342.4(SLC4A1):c.1117C>T:p.Gln373Ter	coding	Pathogenic
17	44258317	G	A	G44258317A	SLC4A1	NM_000342.4(SLC4A1):c.1087+96C>T	noncoding	Benign
17	44258590	G	A	G44258590A	SLC4A1	NM_000342.4(SLC4A1):c.910C>T:p.Arg304Ter	coding	Pathogenic
17	44258781	C	T	C44258781T	SLC4A1	NM_000342.4(SLC4A1):c.877-158G>A	noncoding	Benign
17	44259613	C	T	C44259613T	SLC4A1	NM_000342.4(SLC4A1):c.610-32G>A	noncoding	Benign
17	44259723	C	T	C44259723T	SLC4A1	NM_000342.4(SLC4A1):c.609+86G>A	noncoding	Benign
17	44259808	C	T	C44259808T	SLC4A1	NM_000342.4(SLC4A1):c.609+1G>A	noncoding	Pathogenic
17	44260432	G	T	G44260432T	SLC4A1	NM_000342.4(SLC4A1):c.457C>A:p.Leu153Met	coding	Benign/Likely_benign
17	44260519	G	A	G44260519A	SLC4A1	NM_000342.4(SLC4A1):c.370C>T:p.Gln124Ter	coding	Pathogenic
17	44260608	G	A	G44260608A	SLC4A1	NM_000342.4(SLC4A1):c.349+27C>T	noncoding	Benign
17	44260880	A	G	A44260880G	SLC4A1	NM_000342.4(SLC4A1):c.169-65T>C	noncoding	Benign
17	44260984	T	C	T44260984C	SLC4A1	NM_000342.4(SLC4A1):c.169-169A>G	noncoding	Benign
17	44261085	G	A	G44261085A	SLC4A1	NM_000342.4(SLC4A1):c.169-270C>T	noncoding	Benign
17	44261114	G	A	G44261114A	SLC4A1	NM_000342.4(SLC4A1):c.169-299C>T	noncoding	Benign
17	44261126	C	T	C44261126T	SLC4A1	NM_000342.4(SLC4A1):c.169-311G>A	noncoding	Benign
17	44261574	C	T	C44261574T	SLC4A1	NM_000342.4(SLC4A1):c.168+1G>A	noncoding	Pathogenic
17	44261935	G	T	G44261935T	SLC4A1	NM_000342.4(SLC4A1):c.107-299C>A	noncoding	Benign
17	44262056	C	T	C44262056T	SLC4A1	NM_000342.4(SLC4A1):c.107-420G>A	noncoding	Benign
17	44262377	C	T	C44262377T	SLC4A1	NM_000342.4(SLC4A1):c.106+259G>A	noncoding	Benign
17	44262705	C	A	C44262705A	SLC4A1	NM_000342.4(SLC4A1):c.37G>T:p.Glu13Ter	coding	Pathogenic
17	44345380	G	T	G44345380T	GRN	NM_002087.4(GRN):c.-8+46G>T	noncoding	Benign
17	44348838	C	G	C44348838G	GRN	NM_002087.4(GRN):c.-7-320C>G	noncoding	Benign
17	44349165	A	G	A44349165G	GRN	NM_002087.4(GRN):c.1A>G:p.Met1Val	coding	Pathogenic
17	44349216	A	G	A44349216G	GRN	NM_002087.4(GRN):c.52A>G:p.Thr18Ala	coding	Pathogenic
17	44349242	C	A	C44349242A	GRN	NM_002087.4(GRN):c.78C>A:p.Cys26Ter	coding	Pathogenic
17	44349669	C	T	C44349669T	GRN	NM_002087.4(GRN):c.267C>T:p.Ala89=	coding	Benign/Likely_benign
17	44350292	G	C	G44350292C	GRN	NM_002087.4(GRN):c.414G>C:p.Thr138=	coding	Benign
17	44350441	G	C	G44350441C	GRN	NM_002087.4(GRN):c.463-1G>C	noncoding	Pathogenic
17	44350689	A	G	A44350689G	GRN	NM_002087.4(GRN):c.599-2A>G	noncoding	Pathogenic
17	44350706	C	A	C44350706A	GRN	NM_002087.4(GRN):c.614C>A:p.Ser205Ter	coding	Pathogenic
17	44351036	G	A	G44351036A	GRN	NM_002087.4(GRN):c.709-1G>A	noncoding	Pathogenic
17	44351769	G	T	G44351769T	GRN	NM_002087.4(GRN):c.1153G>T:p.Glu385Ter	coding	Pathogenic
17	44352051	C	T	C44352051T	GRN	NM_002087.4(GRN):c.1216C>T:p.Gln406Ter	coding	Pathogenic
17	44352485	G	T	G44352485T	GRN	NM_002087.4(GRN):c.1558G>T:p.Glu520Ter	coding	Pathogenic
17	44374354	C	T	C44374354T	ITGA2B	NM_000419.5(ITGA2B):c.3060G>A:p.Lys1020=	coding	Pathogenic
17	44374461	G	A	G44374461A	ITGA2B	NM_000419.5(ITGA2B):c.2953C>T:p.Gln985Ter	coding	Pathogenic
17	44375069	G	A	G44375069A	ITGA2B	NM_000419.5(ITGA2B):c.2770C>T:p.Gln924Ter	coding	Pathogenic
17	44375856	G	A	G44375856A	ITGA2B	NM_000419.5(ITGA2B):c.2578C>T:p.Gln860Ter	coding	Pathogenic
17	44376112	C	T	C44376112T	ITGA2B	NM_000419.5(ITGA2B):c.2421G>A:p.Trp807Ter	coding	Pathogenic
17	44376303	C	G	C44376303G	ITGA2B	NM_000419.5(ITGA2B):c.2348+5G>C	noncoding	Pathogenic
17	44376974	A	G	A44376974G	ITGA2B	NM_000419.5(ITGA2B):c.2267+35T>C	noncoding	Benign
17	44377040	C	A	C44377040A	ITGA2B	NM_000419.5(ITGA2B):c.2236G>T:p.Glu746Ter	coding	Pathogenic
17	44377605	C	A	C44377605A	ITGA2B	NM_000419.5(ITGA2B):c.2187+93G>T	noncoding	Benign
17	44377709	T	A	T44377709A	ITGA2B	NM_000419.5(ITGA2B):c.2176A>T:p.Lys726Ter	coding	Pathogenic
17	44378463	G	A	G44378463A	ITGA2B	NM_000419.5(ITGA2B):c.1993C>T:p.Gln665Ter	coding	Pathogenic
17	44378712	T	C	T44378712C	ITGA2B	NM_000419.5(ITGA2B):c.1879-2A>G	noncoding	Pathogenic
17	44380004	G	A	G44380004A	ITGA2B	NM_000419.5(ITGA2B):c.1750C>T:p.Arg584Ter	coding	Pathogenic
17	44380082	G	A	G44380082A	ITGA2B	NM_000419.5(ITGA2B):c.1672C>T:p.Gln558Ter	coding	Pathogenic
17	44380102	C	T	C44380102T	ITGA2B	NM_000419.5(ITGA2B):c.1652G>A:p.Arg551Gln	coding	Pathogenic
17	44380915	G	A	G44380915A	ITGA2B	NM_000419.5(ITGA2B):c.1357C>T:p.Arg453Ter	coding	Pathogenic
17	44381039	G	T	G44381039T	ITGA2B	NM_000419.5(ITGA2B):c.1233C>A:p.Tyr411Ter	coding	Pathogenic
17	44381043	G	T	G44381043T	ITGA2B	NM_000419.5(ITGA2B):c.1229C>A:p.Pro410His	coding	Pathogenic
17	44383517	C	T	C44383517T	ITGA2B	NM_000419.5(ITGA2B):c.1186G>A:p.Asp396Asn	coding	Pathogenic
17	44383630	C	T	C44383630T	ITGA2B	NM_000419.5(ITGA2B):c.1073G>A:p.Arg358His	coding	Pathogenic
17	44383652	G	A	G44383652A	ITGA2B	NM_000419.5(ITGA2B):c.1051C>T:p.Arg351Ter	coding	Pathogenic
17	44383893	C	G	C44383893G	ITGA2B	NM_000419.5(ITGA2B):c.998+1G>C	noncoding	Pathogenic
17	44383935	A	T	A44383935T	ITGA2B	NM_000419.5(ITGA2B):c.957T>A:p.Tyr319Ter	coding	Pathogenic
17	44384738	G	C	G44384738C	ITGA2B	NM_000419.5(ITGA2B):c.800-153C>G	noncoding	Benign
17	44384946	A	G	A44384946G	ITGA2B	NM_000419.5(ITGA2B):c.799+2T>C	noncoding	Pathogenic
17	44385193	A	G	A44385193G	ITGA2B	NM_000419.5(ITGA2B):c.641T>C:p.Leu214Pro	coding	Pathogenic
17	44385210	C	T	C44385210T	ITGA2B	NM_000419.5(ITGA2B):c.625-1G>A	coding	Pathogenic
17	44385391	C	A	C44385391A	ITGA2B	NM_000419.5(ITGA2B):c.575-56G>T	noncoding	Benign
17	44385550	C	T	C44385550T	ITGA2B	NM_000419.5(ITGA2B):c.574+1G>A	noncoding	Pathogenic
17	44385594	A	T	A44385594T	ITGA2B	NM_000419.5(ITGA2B):c.531T>A:p.Cys177Ter	coding	Pathogenic
17	44385693	C	T	C44385693T	ITGA2B	NM_000419.5(ITGA2B):c.432G>A:p.Trp144Ter	coding	Pathogenic
17	44386054	C	T	C44386054T	ITGA2B	NM_000419.5(ITGA2B):c.266G>A:p.Trp89Ter	coding	Pathogenic
17	44557317	G	C	G44557317C	FZD2	Single_allele	noncoding	Benign
17	44557707	C	T	C44557707T	FZD2	NM_001466.4(FZD2):c.19C>T:p.Leu7=	coding	Benign
17	44558226	C	T	C44558226T	FZD2	NM_001466.4(FZD2):c.538C>T:p.Pro180Ser	coding	Benign
17	44558348	T	C	T44558348C	FZD2	NM_001466.4(FZD2):c.660T>C:p.Asp220=	coding	Benign
17	44558552	C	T	C44558552T	FZD2	NM_001466.4(FZD2):c.864C>T:p.Thr288=	coding	Benign
17	44558666	C	T	C44558666T	FZD2	NM_001466.4(FZD2):c.978C>T:p.Gly326=	coding	Benign
17	44558849	C	T	C44558849T	FZD2	NM_001466.4(FZD2):c.1161C>T:p.Ile387=	coding	Benign
17	44558981	C	T	C44558981T	FZD2	NM_001466.4(FZD2):c.1293C>T:p.Leu431=	coding	Benign
17	44559686	G	T	G44559686T	FZD2	NM_001466.4(FZD2):c.*300G>T	noncoding	Benign
17	44804912	G	A	G44804912A	GJC1	NM_005497.4(GJC1):c.906C>T:p.Thr302=	coding	Benign
17	44851675	G	A	G44851675A	EFTUD2	NM_004247.4(EFTUD2):c.2823+35C>T	noncoding	Benign
17	44851720	C	T	C44851720T	EFTUD2	NM_004247.4(EFTUD2):c.2813G>A:p.Arg938His	coding	Pathogenic
17	44852291	G	C	G44852291C	EFTUD2	NM_004247.4(EFTUD2):c.2715+118C>G	noncoding	Benign
17	44852386	G	A	G44852386A	EFTUD2	NM_004247.4(EFTUD2):c.2715+23C>T	noncoding	Benign
17	44852602	T	C	T44852602C	EFTUD2	NM_004247.4(EFTUD2):c.2562-40A>G	noncoding	Benign
17	44852617	G	T	G44852617T	EFTUD2	NM_004247.4(EFTUD2):c.2562-55C>A	noncoding	Benign
17	44852878	A	C	A44852878C	EFTUD2	NM_004247.4(EFTUD2):c.2562-316T>G	noncoding	Benign
17	44853083	T	C	T44853083C	EFTUD2	NM_004247.4(EFTUD2):c.2561+213A>G	noncoding	Benign
17	44853491	G	A	G44853491A	EFTUD2	NM_004247.4(EFTUD2):c.2466+26C>T	noncoding	Benign
17	44854376	C	A	C44854376A	EFTUD2	NM_004247.4(EFTUD2):c.2260-20G>T	noncoding	Benign
17	44854386	G	A	G44854386A	EFTUD2	NM_004247.4(EFTUD2):c.2260-30C>T	noncoding	Benign
17	44854616	C	T	C44854616T	EFTUD2	NM_004247.4(EFTUD2):c.2199G>A:p.Trp733Ter	coding	Pathogenic
17	44854703	T	C	T44854703C	EFTUD2	NM_004247.4(EFTUD2):c.2133-21A>G	noncoding	Benign
17	44854825	C	T	C44854825T	EFTUD2	NM_004247.4(EFTUD2):c.2132+93G>A	noncoding	Benign
17	44854898	C	A	C44854898A	EFTUD2	NM_004247.4(EFTUD2):c.2132+20G>T	noncoding	Benign/Likely_benign
17	44855106	A	G	A44855106G	EFTUD2	NM_004247.4(EFTUD2):c.2046-102T>C	noncoding	Benign
17	44857004	A	G	A44857004G	EFTUD2	NM_004247.4(EFTUD2):c.2045+71T>C	noncoding	Benign
17	44857047	T	C	T44857047C	EFTUD2	NM_004247.4(EFTUD2):c.2045+28A>G	noncoding	Benign
17	44857326	T	C	T44857326C	EFTUD2	NM_004247.4(EFTUD2):c.1963-169A>G	noncoding	Benign
17	44859047	C	T	C44859047T	EFTUD2	NM_004247.4(EFTUD2):c.1962+33G>A	noncoding	Benign
17	44859737	C	T	C44859737T	EFTUD2	NM_004247.4(EFTUD2):c.1860+168G>A	noncoding	Benign
17	44859803	G	A	G44859803A	EFTUD2	NM_004247.4(EFTUD2):c.1860+102C>T	noncoding	Benign
17	44859889	C	T	C44859889T	EFTUD2	NM_004247.4(EFTUD2):c.1860+16G>A	noncoding	Benign
17	44860091	G	A	G44860091A	EFTUD2	NM_004247.4(EFTUD2):c.1720-46C>T	noncoding	Benign
17	44860381	C	G	C44860381G	EFTUD2	NM_004247.4(EFTUD2):c.1719+51G>C	noncoding	Benign
17	44860413	G	A	G44860413A	EFTUD2	NM_004247.4(EFTUD2):c.1719+19C>T	noncoding	Benign
17	44860431	C	T	C44860431T	EFTUD2	NM_004247.4(EFTUD2):c.1719+1G>A	noncoding	Pathogenic
17	44860446	G	A	G44860446A	EFTUD2	NM_004247.4(EFTUD2):c.1705C>T:p.Arg569Ter	coding	Pathogenic
17	44860560	T	A	T44860560A	EFTUD2	NM_004247.4(EFTUD2):c.1608-17A>T	noncoding	Benign/Likely_benign
17	44862689	T	C	T44862689C	EFTUD2	NM_004247.4(EFTUD2):c.1607+24A>G	noncoding	Benign
17	44862691	C	T	C44862691T	EFTUD2	NM_004247.4(EFTUD2):c.1607+22G>A	noncoding	Benign
17	44862742	G	A	G44862742A	EFTUD2	NM_004247.4(EFTUD2):c.1578C>T:p.Thr526=	coding	Benign
17	44862920	C	A	C44862920A	EFTUD2	NM_004247.4(EFTUD2):c.1414-14G>T	noncoding	Benign/Likely_benign
17	44863151	C	A	C44863151A	EFTUD2	NM_004247.4(EFTUD2):c.1414-245G>T	noncoding	Benign
17	44863410	C	T	C44863410T	EFTUD2	NM_004247.4(EFTUD2):c.1413+245G>A	noncoding	Benign
17	44863705	C	T	C44863705T	EFTUD2	NM_004247.4(EFTUD2):c.1363G>A:p.Gly455Ser	coding	Benign/Likely_benign
17	44864100	T	C	T44864100C	EFTUD2	NM_004247.4(EFTUD2):c.1286-318A>G	noncoding	Benign
17	44865066	C	A	C44865066A	EFTUD2	NM_004247.4(EFTUD2):c.1150-1G>T	coding	Pathogenic
17	44865387	C	T	C44865387T	EFTUD2	NM_004247.4(EFTUD2):c.1150-322G>A	noncoding	Benign
17	44867762	G	A	G44867762A	EFTUD2	NM_004247.4(EFTUD2):c.1149+45C>T	noncoding	Benign
17	44867768	A	G	A44867768G	EFTUD2	NM_004247.4(EFTUD2):c.1149+39T>C	noncoding	Benign
17	44867813	G	A	G44867813A	EFTUD2	NM_004247.4(EFTUD2):c.1143C>T:p.Leu381=	coding	Benign
17	44867829	G	C	G44867829C	EFTUD2	NM_004247.4(EFTUD2):c.1127C>G:p.Pro376Arg	coding	Pathogenic
17	44867905	G	C	G44867905C	EFTUD2	NM_004247.4(EFTUD2):c.1059-8C>G	noncoding	Benign
17	44867928	A	G	A44867928G	EFTUD2	NM_004247.4(EFTUD2):c.1059-31T>C	noncoding	Benign
17	44867931	G	A	G44867931A	EFTUD2	NM_004247.4(EFTUD2):c.1059-34C>T	noncoding	Benign
17	44868174	A	T	A44868174T	EFTUD2	NM_004247.4(EFTUD2):c.1058+113T>A	noncoding	Benign
17	44868368	C	T	C44868368T	EFTUD2	NM_004247.4(EFTUD2):c.995-18G>A	noncoding	Benign
17	44868499	A	G	A44868499G	EFTUD2	NM_004247.4(EFTUD2):c.995-149T>C	noncoding	Benign
17	44872624	C	T	C44872624T	EFTUD2	NM_004247.4(EFTUD2):c.870-54G>A	noncoding	Benign
17	44872749	C	G	C44872749G	EFTUD2	NM_004247.4(EFTUD2):c.870-179G>C	noncoding	Benign
17	44875840	C	T	C44875840T	EFTUD2	NM_004247.4(EFTUD2):c.869+94G>A	noncoding	Benign
17	44876102	T	C	T44876102C	EFTUD2	NM_004247.4(EFTUD2):c.703-2A>G	noncoding	Pathogenic
17	44876390	C	T	C44876390T	EFTUD2	NM_004247.4(EFTUD2):c.703-290G>A	noncoding	Benign
17	44879430	T	C	T44879430C	EFTUD2	NM_004247.4(EFTUD2):c.702+126A>G	noncoding	Benign
17	44879659	A	C	A44879659C	EFTUD2	NM_004247.4(EFTUD2):c.620-21T>G	noncoding	Benign
17	44879759	G	A	G44879759A	EFTUD2	NM_004247.4(EFTUD2):c.620-121C>T	noncoding	Benign
17	44879771	C	T	C44879771T	EFTUD2	NM_004247.4(EFTUD2):c.620-133G>A	noncoding	Benign
17	44880263	T	A	T44880263A	EFTUD2	NM_004247.4(EFTUD2):c.619+291A>T	noncoding	Benign
17	44880274	T	C	T44880274C	EFTUD2	NM_004247.4(EFTUD2):c.619+280A>G	noncoding	Benign
17	44880487	A	G	A44880487G	EFTUD2	NM_004247.4(EFTUD2):c.619+67T>C	noncoding	Benign
17	44880597	G	A	G44880597A	EFTUD2	NM_004247.4(EFTUD2):c.576C>T:p.Asp192=	coding	Benign
17	44881767	C	G	C44881767G	EFTUD2	NM_004247.4(EFTUD2):c.493-45G>C	noncoding	Benign
17	44883046	C	G	C44883046G	EFTUD2	NM_004247.4(EFTUD2):c.492+47G>C	noncoding	Benign
17	44883188	C	T	C44883188T	EFTUD2	NM_004247.4(EFTUD2):c.427-30G>A	noncoding	Benign
17	44883256	G	A	G44883256A	EFTUD2	NM_004247.4(EFTUD2):c.427-98C>T	noncoding	Benign
17	44883742	A	G	A44883742G	EFTUD2	NM_004247.4(EFTUD2):c.351-18T>C	noncoding	Benign
17	44883766	G	A	G44883766A	EFTUD2	NM_004247.4(EFTUD2):c.351-42C>T	noncoding	Benign
17	44885200	C	T	C44885200T	EFTUD2	NM_004247.4(EFTUD2):c.350+56G>A	noncoding	Benign
17	44885219	C	G	C44885219G	EFTUD2	NM_004247.4(EFTUD2):c.350+37G>C	noncoding	Benign
17	44885425	T	C	T44885425C	EFTUD2	NM_004247.4(EFTUD2):c.272-91A>G	noncoding	Benign
17	44885440	C	T	C44885440T	EFTUD2	NM_004247.4(EFTUD2):c.272-106G>A	noncoding	Benign
17	44886723	C	T	C44886723T	EFTUD2	NM_004247.4(EFTUD2):c.133G>A:p.Val45Ile	coding	Benign/Likely_benign
17	44886767	G	A	G44886767A	EFTUD2	NM_004247.4(EFTUD2):c.106-17C>T	noncoding	Benign/Likely_benign
17	44886777	C	T	C44886777T	EFTUD2	NM_004247.4(EFTUD2):c.106-27G>A	noncoding	Benign
17	44886873	T	C	T44886873C	EFTUD2	NM_004247.4(EFTUD2):c.106-123A>G	noncoding	Benign
17	44894519	C	A	C44894519A	EFTUD2	NM_004247.4(EFTUD2):c.3G>T:p.Met1Ile	coding	Pathogenic
17	44894754	G	A	G44894754A	EFTUD2	NM_004247.4(EFTUD2):c.-4-229C>T	noncoding	Benign
17	44894838	G	A	G44894838A	EFTUD2	NM_004247.4(EFTUD2):c.-4-313C>T	noncoding	Benign
17	44900676	C	A	C44900676A	CCDC103	NM_213607.3(CCDC103):c.-9-314C>A	noncoding	Benign
17	44901788	C	T	C44901788T	CCDC103	NM_213607.3(CCDC103):c.276+136C>T	noncoding	Benign
17	44902224	G	A	G44902224A	CCDC103	NM_213607.3(CCDC103):c.277-141G>A	noncoding	Benign
17	44902386	G	T	G44902386T	CCDC103	NM_213607.3(CCDC103):c.298G>T:p.Glu100Ter	coding	Pathogenic
17	44902416	C	T	C44902416T	CCDC103	NM_213607.3(CCDC103):c.328C>T:p.Arg110Ter	coding	Pathogenic
17	44907319	G	C	G44907319C	CCDC103;GFAP	NM_002055.5(GFAP):c.*28C>G	noncoding	Benign/Likely_benign
17	44907331	C	T	C44907331T	GFAP	NM_002055.5(GFAP):c.*16G>A	noncoding	Benign/Likely_benign
17	44907474	G	A	G44907474A	GFAP	NM_002055.5(GFAP):c.1258-86C>T	noncoding	Benign
17	44907591	G	A	G44907591A	GFAP	NM_002055.5(GFAP):c.1258-203C>T	noncoding	Benign
17	44907842	A	C	A44907842C	GFAP	NM_002055.5(GFAP):c.1257+222T>G	noncoding	Benign
17	44908075	G	T	G44908075T	GFAP	NM_002055.5(GFAP):c.1246C>A:p.Arg416=	coding	Benign
17	44908269	G	A	G44908269A	GFAP	NM_002055.5(GFAP):c.1172-120C>T	noncoding	Benign
17	44908336	A	G	A44908336G	GFAP	NM_002055.5(GFAP):c.1172-187T>C	noncoding	Benign
17	44908404	C	T	C44908404T	GFAP	NM_002055.5(GFAP):c.1172-255G>A	noncoding	Benign
17	44910114	G	T	G44910114T	GFAP	NM_002055.5(GFAP):c.1171+501C>A	coding	Benign
17	44910155	G	A	G44910155A	GFAP	NM_002055.5(GFAP):c.1171+460C>T	coding	Benign
17	44910156	T	C	T44910156C	GFAP	NM_002055.5(GFAP):c.1171+459A>G	coding	Benign
17	44910724	G	C	G44910724C	GFAP	NM_002055.5(GFAP):c.1128-66C>G	noncoding	Benign
17	44910809	G	A	G44910809A	GFAP	NM_002055.5(GFAP):c.1128-151C>T	noncoding	Benign
17	44911276	T	C	T44911276C	GFAP	NM_002055.5(GFAP):c.1087A>G:p.Ile363Val	coding	Pathogenic
17	44911491	C	G	C44911491G	GFAP	NM_002055.5(GFAP):c.907-35G>C	noncoding	Benign
17	44911554	G	C	G44911554C	GFAP	NM_002055.5(GFAP):c.907-98C>G	noncoding	Benign
17	44911556	T	G	T44911556G	GFAP	NM_002055.5(GFAP):c.907-100A>C	noncoding	Benign
17	44911591	T	C	T44911591C	GFAP	NM_002055.5(GFAP):c.906+81A>G	noncoding	Benign
17	44912972	C	T	C44912972T	GFAP	NM_002055.5(GFAP):c.780+297G>A	noncoding	Benign
17	44913146	G	T	G44913146T	GFAP	NM_002055.5(GFAP):c.780+123C>A	noncoding	Benign
17	44913450	C	T	C44913450T	GFAP	NM_002055.5(GFAP):c.619-20G>A	noncoding	Benign
17	44913720	G	A	G44913720A	GFAP	NM_002055.5(GFAP):c.618+8C>T	noncoding	Benign
17	44914096	G	A	G44914096A	GFAP	NM_002055.5(GFAP):c.462-8C>T	noncoding	Benign
17	44914112	G	A	G44914112A	GFAP	NM_002055.5(GFAP):c.462-24C>T	noncoding	Benign
17	44914884	G	A	G44914884A	GFAP	NM_002055.5(GFAP):c.461+142C>T	noncoding	Benign
17	44915270	T	C	T44915270C	GFAP	NM_002055.5(GFAP):c.217A>G:p.Met73Val	coding	Pathogenic
17	44915421	C	G	C44915421G	GFAP	NM_002055.5(GFAP):c.66G>C:p.Val22=	coding	Benign
17	44915750	G	T	G44915750T	GFAP	NM_002055.4(GFAP):c.-264C>A	noncoding	Benign
17	45264774	G	C	G45264774C	MAP3K14	NM_003954.5(MAP3K14):c.2706C>G:p.Val902=	coding	Benign
17	45265146	G	A	G45265146A	MAP3K14	NM_003954.5(MAP3K14):c.2679+17C>T	noncoding	Benign
17	45267393	C	T	C45267393T	MAP3K14	NM_003954.5(MAP3K14):c.2326+13G>A	noncoding	Benign
17	45271041	T	G	T45271041G	MAP3K14	NM_003954.5(MAP3K14):c.1821+17A>C	noncoding	Benign
17	45271045	T	G	T45271045G	MAP3K14	NM_003954.5(MAP3K14):c.1821+13A>C	noncoding	Benign
17	45287050	G	A	G45287050A	MAP3K14	NM_003954.5(MAP3K14):c.538-5C>T	noncoding	Benign
17	45287371	C	A	C45287371A	MAP3K14	NM_003954.5(MAP3K14):c.327-7G>T	noncoding	Benign
17	45437588	G	A	G45437588A	PLEKHM1	NM_014798.3(PLEKHM1):c.*270C>T	noncoding	Benign
17	45439372	A	C	A45439372C	PLEKHM1	NM_014798.3(PLEKHM1):c.3059+105T>G	noncoding	Benign
17	45439373	G	A	G45439373A	PLEKHM1	NM_014798.3(PLEKHM1):c.3059+104C>T	noncoding	Benign
17	45439623	C	T	C45439623T	PLEKHM1	NM_014798.3(PLEKHM1):c.2913G>A:p.Gly971=	coding	Benign
17	45439688	G	A	G45439688A	PLEKHM1	NM_014798.3(PLEKHM1):c.2902-54C>T	noncoding	Benign
17	45439886	T	C	T45439886C	PLEKHM1	NM_014798.3(PLEKHM1):c.2902-252A>G	noncoding	Benign
17	45440366	C	T	C45440366T	PLEKHM1	NM_014798.3(PLEKHM1):c.2838-140G>A	noncoding	Benign
17	45453184	G	A	G45453184A	PLEKHM1	NM_014798.3(PLEKHM1):c.2497+171C>T	noncoding	Benign
17	45454560	C	T	C45454560T	PLEKHM1	NM_014798.3(PLEKHM1):c.1580-288G>A	noncoding	Benign
17	45458586	C	T	C45458586T	PLEKHM1	NM_014798.3(PLEKHM1):c.1309-147G>A	noncoding	Benign
17	45467934	C	T	C45467934T	PLEKHM1	NM_014798.3(PLEKHM1):c.1308+275G>A	noncoding	Benign
17	45468527	T	C	T45468527C	PLEKHM1	NM_014798.3(PLEKHM1):c.990A>G:p.Thr330=	coding	Benign
17	45468691	G	T	G45468691T	PLEKHM1	NM_014798.3(PLEKHM1):c.924-98C>A	noncoding	Benign
17	45475171	G	A	G45475171A	PLEKHM1	NM_014798.3(PLEKHM1):c.852C>T:p.Cys284=	coding	Benign
17	45475351	G	C	G45475351C	PLEKHM1	NM_014798.3(PLEKHM1):c.672C>G:p.Ser224=	coding	Benign
17	45475446	A	G	A45475446G	PLEKHM1	NM_014798.3(PLEKHM1):c.577T>C:p.Leu193=	coding	Benign
17	45475555	C	T	C45475555T	PLEKHM1	NM_014798.3(PLEKHM1):c.468G>A:p.Arg156=	coding	Benign
17	45475784	T	C	T45475784C	PLEKHM1	NM_014798.3(PLEKHM1):c.297-58A>G	noncoding	Benign
17	45477887	A	G	A45477887G	PLEKHM1	NM_014798.3(PLEKHM1):c.296+13T>C	noncoding	Benign
17	45834976	G	A	G45834976A	CRHR1	NM_004382.5(CRHR1):c.*212G>A	noncoding	Benign
17	45845274	G	A	G45845274A	SPPL2C	NM_175882.3(SPPL2C):c.368G>A:p.Arg123Gln	coding	Benign
17	45894810	C	G	C45894810G	MAPT	NM_001377265.1(MAPT):c.-18+124C>G	noncoding	Benign
17	45962150	G	T	G45962150T	MAPT	NM_001377265.1(MAPT):c.-17-171G>T	noncoding	Benign
17	45962387	C	T	C45962387T	MAPT	NM_001377265.1(MAPT):c.50C>T:p.Thr17Met	coding	Benign/Likely_benign
17	45962457	C	T	C45962457T	MAPT	NM_001377265.1(MAPT):c.120C>T:p.Asp40=	coding	Benign/Likely_benign
17	45962754	C	T	C45962754T	MAPT	NM_001377265.1(MAPT):c.133+284C>T	noncoding	Benign
17	45971767	T	C	T45971767C	MAPT	NM_001377265.1(MAPT):c.134-92T>C	noncoding	Benign
17	45971901	C	T	C45971901T	MAPT	NM_001377265.1(MAPT):c.176C>T:p.Pro59Leu	coding	Benign
17	45972184	G	A	G45972184A	MAPT	NM_001377265.1(MAPT):c.220+239G>A	noncoding	Benign
17	45974222	C	G	C45974222G	MAPT	NM_001377265.1(MAPT):c.220+2277C>G	noncoding	Benign
17	45974223	T	G	T45974223G	MAPT	NM_001377265.1(MAPT):c.220+2278T>G	noncoding	Benign
17	45974246	A	G	A45974246G	MAPT	NM_001377265.1(MAPT):c.220+2301A>G	noncoding	Benign
17	45974377	G	A	G45974377A	MAPT	NM_001377265.1(MAPT):c.220+2432G>A	noncoding	Benign/Likely_benign
17	45974558	G	A	G45974558A	MAPT	NM_001377265.1(MAPT):c.220+2613G>A	noncoding	Benign
17	45974643	T	C	T45974643C	MAPT	NM_001377265.1(MAPT):c.220+2698T>C	noncoding	Benign
17	45978272	T	A	T45978272A	MAPT	NM_001377265.1(MAPT):c.221-103T>A	noncoding	Benign
17	45978281	A	T	A45978281T	MAPT	NM_001377265.1(MAPT):c.221-94A>T	noncoding	Benign
17	45982882	G	A	G45982882A	MAPT	NM_001377265.1(MAPT):c.303G>A:p.Pro101=	noncoding	Benign
17	45983126	G	A	G45983126A	MAPT	NM_001377265.1(MAPT):c.547G>A:p.Glu183Lys	noncoding	Benign
17	45984179	A	C	A45984179C	MAPT	NM_001377265.1(MAPT):c.1351+249A>C	noncoding	Benign
17	45986842	G	A	G45986842A	MAPT	NM_001377265.1(MAPT):c.1352-198G>A	noncoding	Benign
17	45986968	T	C	T45986968C	MAPT	NM_001377265.1(MAPT):c.1352-72T>C	noncoding	Benign
17	45989680	G	A	G45989680A	MAPT	NM_001377265.1(MAPT):c.1408-198G>A	noncoding	Benign
17	45990142	A	G	A45990142G	MAPT	NM_001377265.1(MAPT):c.1605+67A>G	noncoding	Benign
17	45990180	T	C	T45990180C	MAPT	NM_001377265.1(MAPT):c.1605+105T>C	noncoding	Benign
17	45990316	G	A	G45990316A	MAPT	NM_001377265.1(MAPT):c.1605+241G>A	noncoding	Benign
17	45991126	A	G	A45991126G	MAPT	NM_001377265.1(MAPT):c.1606-334A>G	noncoding	Benign
17	45991177	G	A	G45991177A	MAPT	NM_001377265.1(MAPT):c.1606-283G>A	noncoding	Benign
17	45993723	C	G	C45993723G	MAPT	NM_001377265.1(MAPT):c.1732+2137C>G	noncoding	Benign
17	45996373	G	A	G45996373A	MAPT	NM_001377265.1(MAPT):c.1733-26G>A	noncoding	Benign
17	45996767	G	A	G45996767A	MAPT	NM_001377265.1(MAPT):c.1998+103G>A	noncoding	Benign
17	46010134	A	G	A46010134G	MAPT	NM_001377265.1(MAPT):c.1999-176A>G	noncoding	Benign
17	46010142	G	A	G46010142A	MAPT	NM_001377265.1(MAPT):c.1999-168G>A	noncoding	Benign
17	46010263	C	A	C46010263A	MAPT	NM_001377265.1(MAPT):c.1999-47C>A	noncoding	Benign
17	46010385	G	A	G46010385A	MAPT	NM_001377265.1(MAPT):c.2074G>A:p.Val692Ile	coding	Benign/Likely_benign
17	46010431	G	A	G46010431A	MAPT	NM_001377265.1(MAPT):c.2091+29G>A	noncoding	Benign/Likely_benign
17	46014271	T	G	T46014271G	MAPT	NM_001377265.1(MAPT):c.2120T>G:p.Leu707Arg	coding	Pathogenic
17	46014358	G	A	G46014358A	MAPT	NM_001377265.1(MAPT):c.2173+34G>A	noncoding	Benign
17	46014414	G	A	G46014414A	MAPT	NM_001377265.1(MAPT):c.2173+90G>A	noncoding	Benign
17	46014520	C	T	C46014520T	MAPT	NM_001377265.1(MAPT):c.2173+196C>T	noncoding	Benign
17	46018295	T	G	T46018295G	MAPT	NM_001377265.1(MAPT):c.2174-323T>G	noncoding	Benign
17	46018707	G	A	G46018707A	MAPT	NM_001377265.1(MAPT):c.2263G>A:p.Val755Ile	coding	Pathogenic/Likely_pathogenic
17	46024010	G	A	G46024010A	MAPT	NM_001377265.1(MAPT):c.2341G>A:p.Gly781Arg	coding	Pathogenic/Likely_pathogenic
17	46031459	A	T	A46031459T	KANSL1	NM_015443.4(KANSL1):c.*17T>A	noncoding	Benign
17	46031505	C	G	C46031505G	KANSL1	NM_015443.4(KANSL1):c.3289G>C:p.Ala1097Pro	coding	Benign
17	46031648	T	C	T46031648C	KANSL1	NM_015443.4(KANSL1):c.3146A>G:p.Glu1049Gly	coding	Benign/Likely_benign
17	46031738	T	C	T46031738C	KANSL1	NM_015443.4(KANSL1):c.3091-35A>G	noncoding	Benign
17	46032073	T	C	T46032073C	KANSL1	NM_015443.4(KANSL1):c.3064A>G:p.Thr1022Ala	coding	Benign
17	46032084	G	A	G46032084A	KANSL1	NM_015443.4(KANSL1):c.3053C>T:p.Thr1018Ile	coding	Benign/Likely_benign
17	46032121	C	A	C46032121A	KANSL1	NM_015443.4(KANSL1):c.3016G>T:p.Ala1006Ser	coding	Benign
17	46032308	C	A	C46032308A	KANSL1	NM_015443.4(KANSL1):c.2838-9G>T	noncoding	Benign
17	46032351	G	A	G46032351A	KANSL1	NM_015443.4(KANSL1):c.2838-52C>T	noncoding	Benign
17	46032477	A	G	A46032477G	KANSL1	NM_015443.4(KANSL1):c.2838-178T>C	noncoding	Benign
17	46033174	C	T	C46033174T	KANSL1	NM_015443.4(KANSL1):c.2743G>A:p.Ala915Thr	coding	Benign
17	46033380	T	C	T46033380C	KANSL1	NM_015443.4(KANSL1):c.2724+23A>G	noncoding	Benign
17	46033409	A	C	A46033409C	KANSL1	NM_015443.4(KANSL1):c.2718T>G:p.Asn906Lys	coding	Benign/Likely_benign
17	46034112	G	A	G46034112A	KANSL1	NM_015443.4(KANSL1):c.2666+49C>T	noncoding	Benign
17	46034593	C	T	C46034593T	KANSL1	NM_015443.4(KANSL1):c.2542-308G>A	noncoding	Benign
17	46038514	G	C	G46038514C	KANSL1	NM_015443.4(KANSL1):c.2541+24C>G	noncoding	Benign
17	46038520	C	T	C46038520T	KANSL1	NM_015443.4(KANSL1):c.2541+18G>A	noncoding	Benign
17	46038609	G	A	G46038609A	KANSL1	NM_015443.4(KANSL1):c.2470C>T:p.Arg824Ter	coding	Pathogenic
17	46038629	G	C	G46038629C	KANSL1	NM_015443.4(KANSL1):c.2450C>G:p.Pro817Arg	coding	Benign
17	46039164	T	C	T46039164C	KANSL1	NM_015443.4(KANSL1):c.2255A>G:p.Asp752Gly	coding	Benign
17	46039189	C	G	C46039189G	KANSL1	NM_015443.4(KANSL1):c.2230G>C:p.Asp744His	coding	Benign/Likely_benign
17	46039711	T	C	T46039711C	KANSL1	NM_015443.4(KANSL1):c.2194A>G:p.Thr732Ala	coding	Benign/Likely_benign
17	46039794	G	A	G46039794A	KANSL1	NM_015443.4(KANSL1):c.2111C>T:p.Ser704Leu	coding	Benign
17	46039795	A	G	A46039795G	KANSL1	NM_015443.4(KANSL1):c.2110T>C:p.Ser704Pro	coding	Benign/Likely_benign
17	46050632	T	C	T46050632C	KANSL1	NM_015443.4(KANSL1):c.1921A>G:p.Ile641Val	coding	Benign
17	46050644	C	T	C46050644T	KANSL1	NM_015443.4(KANSL1):c.1909G>A:p.Gly637Ser	coding	Benign
17	46050814	G	C	G46050814C	KANSL1	NM_015443.4(KANSL1):c.1849-110C>G	noncoding	Benign
17	46066659	G	A	G46066659A	KANSL1	NM_015443.4(KANSL1):c.1726C>T:p.Arg576Ter	coding	Pathogenic
17	46066696	G	A	G46066696A	KANSL1	NM_015443.4(KANSL1):c.1689C>T:p.Asp563=	coding	Benign/Likely_benign
17	46066731	G	T	G46066731T	KANSL1	NM_015443.4(KANSL1):c.1654C>A:p.Leu552Ile	coding	Benign/Likely_benign
17	46066743	G	A	G46066743A	KANSL1	NM_015443.4(KANSL1):c.1653-11C>T	noncoding	Benign/Likely_benign
17	46066868	T	C	T46066868C	KANSL1	NM_015443.4(KANSL1):c.1653-136A>G	noncoding	Benign
17	46067658	C	G	C46067658G	KANSL1	NM_015443.4(KANSL1):c.1543G>C:p.Val515Leu	coding	Benign
17	46082570	A	G	A46082570G	KANSL1	NM_015443.4(KANSL1):c.1432-28T>C	noncoding	Benign
17	46094391	G	A	G46094391A	KANSL1	NM_015443.4(KANSL1):c.1431+169C>T	noncoding	Benign
17	46094571	G	A	G46094571A	KANSL1	NM_015443.4(KANSL1):c.1420C>T:p.Arg474Cys	coding	Pathogenic
17	46171020	G	A	G46171020A	KANSL1	NM_015443.4(KANSL1):c.1124C>T:p.Ser375Leu	coding	Benign/Likely_benign
17	46171038	T	C	T46171038C	KANSL1	NM_015443.4(KANSL1):c.1106A>G:p.Asn369Ser	coding	Benign/Likely_benign
17	46171046	T	A	T46171046A	KANSL1	NM_015443.4(KANSL1):c.1098A>T:p.Gly366=	coding	Benign
17	46171133	G	C	G46171133C	KANSL1	NM_015443.4(KANSL1):c.1011C>G:p.Ser337=	coding	Benign
17	46171415	T	C	T46171415C	KANSL1	NM_015443.4(KANSL1):c.729A>G:p.Gln243=	coding	Benign
17	46171456	T	C	T46171456C	KANSL1	NM_015443.4(KANSL1):c.688A>G:p.Asn230Asp	coding	Benign/Likely_benign
17	46171482	G	A	G46171482A	KANSL1	NM_015443.4(KANSL1):c.662C>T:p.Thr221Ile	coding	Benign
17	46171646	T	G	T46171646G	KANSL1	NM_015443.4(KANSL1):c.498A>C:p.Thr166=	coding	Benign/Likely_benign
17	46171650	G	A	G46171650A	KANSL1	NM_015443.4(KANSL1):c.494C>T:p.Ser165Leu	coding	Benign
17	46171858	A	G	A46171858G	KANSL1	NM_015443.4(KANSL1):c.286T>C:p.Leu96=	coding	Benign/Likely_benign
17	46192180	C	T	C46192180T	KANSL1	NM_015443.4(KANSL1):c.-90+643G>A	noncoding	Benign
17	46192360	G	A	G46192360A	KANSL1	NM_015443.4(KANSL1):c.-90+463C>T	noncoding	Benign
17	46192556	T	C	T46192556C	KANSL1	NM_015443.4(KANSL1):c.-90+267A>G	noncoding	Benign
17	46192598	T	A	T46192598A	KANSL1	NM_015443.4(KANSL1):c.-90+225A>T	noncoding	Benign
17	46192693	A	T	A46192693T	KANSL1	NM_015443.4(KANSL1):c.-90+130T>A	noncoding	Benign
17	46192927	G	T	G46192927T	KANSL1	NM_015443.4(KANSL1):c.-194C>A	noncoding	Benign
17	46223847	C	T	C46223847T	KANSL1	NM_001193465.2(KANSL1):c.-223-43G>A	noncoding	Benign
17	46223965	T	C	T46223965C	KANSL1	NM_001193465.2(KANSL1):c.-223-161A>G	noncoding	Benign
17	46225386	G	A	G46225386A	KANSL1	Single_allele	noncoding	Benign
17	46225481	G	C	G46225481C	KANSL1	Single_allele	noncoding	Benign
17	46225515	C	T	C46225515T	KANSL1	Single_allele	noncoding	Benign
17	46225538	T	C	T46225538C	KANSL1	Single_allele	noncoding	Benign
17	46704759	G	A	G46704759A	NSF	NM_006178.4(NSF):c.1375G>A:p.Ala459Thr	coding	Pathogenic
17	46768080	A	G	A46768080G	WNT3	NM_030753.5(WNT3):c.*8+232T>C	noncoding	Benign
17	46769942	C	T	C46769942T	WNT3	NM_030753.5(WNT3):c.429G>A:p.Ser143=	coding	Benign/Likely_benign
17	46770300	G	C	G46770300C	WNT3	NM_030753.5(WNT3):c.323-252C>G	noncoding	Benign
17	46770341	C	G	C46770341G	WNT3	NM_030753.5(WNT3):c.323-293G>C	noncoding	Benign
17	46773630	A	C	A46773630C	WNT3	NM_030753.5(WNT3):c.322+38T>G	noncoding	Benign
17	46773640	T	C	T46773640C	WNT3	NM_030753.5(WNT3):c.322+28A>G	noncoding	Benign
17	46773650	T	C	T46773650C	WNT3	NM_030753.5(WNT3):c.322+18A>G	noncoding	Benign
17	46773855	G	A	G46773855A	WNT3	NM_030753.5(WNT3):c.135C>T:p.Cys45=	coding	Benign
17	46818580	G	A	G46818580A	WNT3	NM_030753.5(WNT3):c.18C>T:p.Leu6=	coding	Benign
17	46872574	G	A	G46872574A	WNT9B	NM_003396.3(WNT9B):c.135G>A:p.Pro45=	coding	Benign
17	46872579	A	G	A46872579G	WNT9B	NM_003396.3(WNT9B):c.140A>G:p.Gln47Arg	coding	Benign
17	46872583	C	T	C46872583T	WNT9B	NM_003396.3(WNT9B):c.144C>T:p.Gly48=	coding	Benign
17	46872720	G	A	G46872720A	WNT9B	NM_003396.3(WNT9B):c.281G>A:p.Arg94Gln	coding	Benign
17	46872756	T	C	T46872756C	WNT9B	NM_003396.3(WNT9B):c.317T>C:p.Met106Thr	coding	Benign
17	46875165	G	T	G46875165T	WNT9B	NM_003396.3(WNT9B):c.399G>T:p.Arg133=	coding	Benign
17	46875288	C	A	C46875288A	WNT9B	NM_003396.3(WNT9B):c.522C>A:p.Ser174Arg	coding	Benign
17	46876417	G	A	G46876417A	WNT9B	NM_003396.3(WNT9B):c.773G>A:p.Arg258His	coding	Benign
17	46876490	G	C	G46876490C	WNT9B	NM_003396.3(WNT9B):c.846G>C:p.Val282=	coding	Benign
17	46922868	C	T	C46922868T	GOSR2	Single_allele	noncoding	Benign
17	46922988	C	T	C46922988T	GOSR2	Single_allele	noncoding	Benign
17	46923177	C	G	C46923177G	GOSR2	NM_004287.5(GOSR2):c.-16C>G	noncoding	Benign
17	46923208	C	T	C46923208T	GOSR2	NM_004287.5(GOSR2):c.16C>T:p.Gln6Ter	coding	Pathogenic
17	46923335	A	G	A46923335G	GOSR2	NM_004287.5(GOSR2):c.29+114A>G	noncoding	Benign
17	46923370	C	T	C46923370T	GOSR2	NM_004287.5(GOSR2):c.29+149C>T	noncoding	Benign
17	46929737	T	G	T46929737G	GOSR2	NM_004287.5(GOSR2):c.94+153T>G	noncoding	Benign
17	46931082	T	C	T46931082C	GOSR2	NM_004287.5(GOSR2):c.95-17T>C	noncoding	Benign/Likely_benign
17	46932164	C	T	C46932164T	GOSR2	NM_004287.5(GOSR2):c.301C>T:p.Arg101Ter	coding	Pathogenic
17	46932182	C	T	C46932182T	GOSR2	NM_004287.5(GOSR2):c.319C>T:p.Arg107Ter	coding	Pathogenic
17	46938469	T	C	T46938469C	GOSR2	NM_004287.5(GOSR2):c.478-130T>C	noncoding	Benign
17	46940415	A	G	A46940415G	GOSR2	NM_004287.5(GOSR2):c.*1655A>G	coding	Benign/Likely_benign
17	46940583	C	T	C46940583T	GOSR2	NM_004287.5(GOSR2):c.*1823C>T	coding	Benign/Likely_benign
17	47137153	A	G	A47137153G	CDC27	NM_001256.6(CDC27):c.1912T>C:p.Trp638Arg	coding	Pathogenic
17	47137238	A	T	A47137238T	CDC27	NM_001256.6(CDC27):c.1827T>A:p.His609Gln	coding	Pathogenic
17	47209754	G	A	G47209754A	MYL4	NM_002476.2(MYL4):c.135+197G>A	noncoding	Benign
17	47213662	A	G	A47213662G	MYL4	NM_002476.2(MYL4):c.136-137A>G	noncoding	Benign
17	47219638	C	T	C47219638T	MYL4	NM_002476.2(MYL4):c.164-266C>T	noncoding	Benign
17	47219747	G	T	G47219747T	MYL4	NM_002476.2(MYL4):c.164-157G>T	noncoding	Benign
17	47219759	C	G	C47219759G	MYL4	NM_002476.2(MYL4):c.164-145C>G	noncoding	Benign
17	47219886	T	C	T47219886C	MYL4	NM_002476.2(MYL4):c.164-18T>C	noncoding	Benign
17	47220227	G	A	G47220227A	MYL4	NM_002476.2(MYL4):c.313+174G>A	noncoding	Benign
17	47221563	T	A	T47221563A	MYL4	NM_002476.2(MYL4):c.314-119T>A	noncoding	Benign
17	47221928	C	T	C47221928T	MYL4	NM_002476.2(MYL4):c.487+73C>T	noncoding	Benign
17	47221996	T	C	T47221996C	MYL4	NM_002476.2(MYL4):c.487+141T>C	noncoding	Benign
17	47222226	G	C	G47222226C	MYL4	NM_002476.2(MYL4):c.488-154G>C	noncoding	Benign
17	47222468	G	A	G47222468A	MYL4	NM_002476.2(MYL4):c.565+11G>A	noncoding	Benign
17	47222852	C	T	C47222852T	MYL4	NM_002476.2(MYL4):c.566-162C>T	noncoding	Benign
17	47222974	C	T	C47222974T	MYL4	NM_002476.2(MYL4):c.566-40C>T	noncoding	Benign
17	47253717	G	C	G47253717C	ITGB3	NC_000017.10:g.45331083G>C	noncoding	Benign
17	47253992	C	G	C47253992G	ITGB3	NM_000212.3(ITGB3):c.79+52C>G	noncoding	Benign
17	47254061	G	A	G47254061A	ITGB3	NM_000212.3(ITGB3):c.79+121G>A	noncoding	Benign
17	47254136	C	A	C47254136A	ITGB3	NM_000212.3(ITGB3):c.79+196C>A	noncoding	Benign
17	47274139	C	T	C47274139T	ITGB3	NM_000212.3(ITGB3):c.80-280C>T	noncoding	Benign
17	47274153	C	G	C47274153G	ITGB3	NM_000212.3(ITGB3):c.80-266C>G	noncoding	Benign
17	47274439	C	T	C47274439T	ITGB3	NM_000212.3(ITGB3):c.100C>T:p.Arg34Ter	coding	Pathogenic
17	47274505	G	T	G47274505T	ITGB3	NM_000212.3(ITGB3):c.165+1G>T	coding	Pathogenic
17	47283352	A	G	A47283352G	ITGB3	NM_000212.3(ITGB3):c.166-2A>G	noncoding	Pathogenic
17	47283450	C	T	C47283450T	ITGB3	NM_000212.3(ITGB3):c.262C>T:p.Arg88Ter	coding	Pathogenic
17	47283550	G	A	G47283550A	ITGB3	NM_000212.3(ITGB3):c.361+1G>A	coding	Pathogenic
17	47283681	G	A	G47283681A	ITGB3	NM_000212.3(ITGB3):c.361+132G>A	noncoding	Benign
17	47283753	T	G	T47283753G	ITGB3	NM_000212.3(ITGB3):c.361+204T>G	noncoding	Benign
17	47284512	T	G	T47284512G	ITGB3	NM_000212.3(ITGB3):c.431T>G:p.Met144Arg	coding	Pathogenic
17	47284514	G	T	G47284514T	ITGB3	NM_000212.3(ITGB3):c.433G>T:p.Asp145Tyr	coding	Pathogenic
17	47284525	C	G	C47284525G	ITGB3	NM_000212.3(ITGB3):c.444C>G:p.Tyr148Ter	coding	Pathogenic
17	47284929	C	T	C47284929T	ITGB3	NM_000212.3(ITGB3):c.614+234C>T	noncoding	Benign
17	47284980	C	T	C47284980T	ITGB3	NM_000212.3(ITGB3):c.614+285C>T	noncoding	Benign
17	47285944	C	A	C47285944A	ITGB3	NM_000212.3(ITGB3):c.615-316C>A	noncoding	Benign
17	47286180	G	T	G47286180T	ITGB3	NM_000212.3(ITGB3):c.615-80G>T	noncoding	Benign
17	47286310	T	C	T47286310C	ITGB3	NM_000212.3(ITGB3):c.665T>C:p.Leu222Pro	coding	Pathogenic
17	47286369	C	T	C47286369T	ITGB3	NM_000212.3(ITGB3):c.724C>T:p.Arg242Ter	coding	Pathogenic
17	47286373	A	T	A47286373T	ITGB3	NM_000212.3(ITGB3):c.728A>T:p.Asp243Val	coding	Pathogenic
17	47286419	T	A	T47286419A	ITGB3	NM_000212.3(ITGB3):c.774T>A:p.Cys258Ter	coding	Pathogenic
17	47287184	C	T	C47287184T	ITGB3	NM_000212.3(ITGB3):c.892C>T:p.Gln298Ter	coding	Pathogenic
17	47287213	C	A	C47287213A	ITGB3	NM_000212.3(ITGB3):c.921C>A:p.Tyr307Ter	coding	Pathogenic
17	47287253	A	G	A47287253G	ITGB3	NM_000212.3(ITGB3):c.939+22A>G	noncoding	Benign
17	47287356	C	T	C47287356T	ITGB3	NM_000212.3(ITGB3):c.939+125C>T	noncoding	Benign
17	47289878	G	C	G47289878C	ITGB3	NM_000212.3(ITGB3):c.1035+102G>C	noncoding	Benign
17	47290183	A	G	A47290183G	ITGB3	NM_000212.3(ITGB3):c.1036-2A>G	noncoding	Pathogenic
17	47290303	G	A	G47290303A	ITGB3	NM_000212.3(ITGB3):c.1125+29G>A	noncoding	Benign
17	47290315	C	T	C47290315T	ITGB3	NM_000212.3(ITGB3):c.1125+41C>T	noncoding	Benign
17	47292166	C	T	C47292166T	ITGB3	NM_000212.3(ITGB3):c.1288C>T:p.Arg430Ter	coding	Pathogenic
17	47292280	G	T	G47292280T	ITGB3	NM_000212.3(ITGB3):c.1402G>T:p.Glu468Ter	coding	Pathogenic
17	47292422	G	A	G47292422A	ITGB3	NM_000212.3(ITGB3):c.1544G>A:p.Arg515Gln	coding	Benign
17	47299353	G	A	G47299353A	ITGB3	NM_000212.3(ITGB3):c.1736G>A:p.Trp579Ter	coding	Pathogenic
17	47299418	T	C	T47299418C	ITGB3	NM_000212.3(ITGB3):c.1801T>C:p.Cys601Arg	coding	Pathogenic
17	47299488	G	A	G47299488A	ITGB3	NM_000212.3(ITGB3):c.1871G>A:p.Cys624Tyr	coding	Pathogenic
17	47299531	G	A	G47299531A	ITGB3	NM_000212.3(ITGB3):c.1913+1G>A	coding	Pathogenic
17	47300211	G	T	G47300211T	ITGB3	NM_000212.3(ITGB3):c.1914-267G>T	noncoding	Benign
17	47300544	C	A	C47300544A	ITGB3	NM_000212.3(ITGB3):c.1980C>A:p.Tyr660Ter	coding	Pathogenic
17	47300675	C	T	C47300675T	ITGB3	NM_000212.3(ITGB3):c.2014+97C>T	noncoding	Benign
17	47302520	A	G	A47302520G	ITGB3	NM_000212.3(ITGB3):c.2015-201A>G	noncoding	Benign
17	47302636	T	C	T47302636C	ITGB3	NM_000212.3(ITGB3):c.2015-85T>C	noncoding	Benign
17	47302786	C	T	C47302786T	ITGB3	NM_000212.3(ITGB3):c.2080C>T:p.Gln694Ter	coding	Pathogenic
17	47307584	C	T	C47307584T	ITGB3	NM_000212.3(ITGB3):c.2248C>T:p.Arg750Ter	coding	Pathogenic
17	47310026	A	G	A47310026G	ITGB3	NM_000212.3(ITGB3):c.2302-113A>G	noncoding	Benign
17	47733844	A	G	A47733844G	TBX21	NM_013351.2(TBX21):c.390A>G:p.Gly130=	coding	Benign
17	47943345	A	T	A47943345T	PNPO	NM_018129.4(PNPO):c.178A>T:p.Lys60Ter	coding	Pathogenic
17	47943431	G	C	G47943431C	PNPO	NM_018129.4(PNPO):c.263+1G>C	coding	Pathogenic
17	47944635	C	T	C47944635T	PNPO	NM_018129.4(PNPO):c.283C>T:p.Arg95Cys	coding	Pathogenic/Likely_pathogenic
17	47944698	C	T	C47944698T	PNPO	NM_018129.4(PNPO):c.346C>T:p.Arg116Ter	coding	Pathogenic
17	47945594	G	A	G47945594A	PNPO	NM_018129.4(PNPO):c.399G>A:p.Trp133Ter	coding	Pathogenic/Likely_pathogenic
17	47945797	G	A	G47945797A	PNPO	NM_018129.4(PNPO):c.418-64G>A	noncoding	Benign
17	47945924	C	T	C47945924T	PNPO	NM_018129.4(PNPO):c.481C>T:p.Arg161Cys	coding	Pathogenic/Likely_pathogenic
17	47945990	G	A	G47945990A	PNPO	NM_018129.4(PNPO):c.546+1G>A	coding	Pathogenic
17	47946588	A	G	A47946588G	PNPO	NM_018129.4(PNPO):c.618-26A>G	noncoding	Benign
17	47946743	C	T	C47946743T	PNPO	NM_018129.4(PNPO):c.747C>T:p.Arg249=	coding	Benign/Likely_benign
17	48529659	T	C	T48529659C	HOXB1	NM_002144.4(HOXB1):c.794A>G:p.Glu265Gly	coding	Benign
17	48530455	C	T	C48530455T	HOXB1	NM_002144.4(HOXB1):c.450G>A:p.Ala150=	coding	Benign
17	48530596	T	A	T48530596A	HOXB1	NM_002144.4(HOXB1):c.309A>T:p.Gln103His	coding	Benign
17	48530668	G	A	G48530668A	HOXB1	NM_002144.4(HOXB1):c.237C>T:p.Ser79=	coding	Benign
17	48596177	C	T	C48596177T	HOXB6	NM_018952.5(HOXB6):c.*236G>A	noncoding	Benign
17	48596256	G	A	G48596256A	HOXB6	NM_018952.5(HOXB6):c.*157C>T	noncoding	Benign
17	48596361	T	G	T48596361G	HOXB6	NM_018952.5(HOXB6):c.*52A>C	noncoding	Benign
17	48596362	C	T	C48596362T	HOXB6	NM_018952.5(HOXB6):c.*51G>A	noncoding	Benign
17	48597878	G	T	G48597878T	HOXB6	NM_018952.5(HOXB6):c.273C>A:p.Ser91=	coding	Benign
17	48598451	C	T	C48598451T	HOXB6	NM_018952.5(HOXB6):c.-78-223G>A	noncoding	Benign
17	48727378	C	T	C48727378T	HOXB13	NM_006361.6(HOXB13):c.602-335G>A	noncoding	Benign
17	48728027	G	A	G48728027A	HOXB13	NM_006361.6(HOXB13):c.567C>T:p.Asn189=	coding	Benign/Likely_benign
17	48728120	C	T	C48728120T	HOXB13	NM_006361.6(HOXB13):c.474G>A:p.Pro158=	coding	Benign/Likely_benign
17	48770002	C	A	C48770002A	TTLL6	NM_001130918.3(TTLL6):c.2136G>T:p.Glu712Asp	coding	Benign
17	49055457	T	C	T49055457C	IGF2BP1	NM_006546.4(IGF2BP1):c.*6013T>C	noncoding	Benign
17	49164280	G	A	G49164280A	B4GALNT2	NM_001159387.2(B4GALNT2):c.954+5G>A	noncoding	Benign
17	49168801	T	C	T49168801C	B4GALNT2	NM_001159387.2(B4GALNT2):c.1216T>C:p.Cys406Arg	coding	Benign
17	49406866	G	C	G49406866C	PHB1	NM_002634.4(PHB1):c.511-12C>G	noncoding	Benign
17	49619031	C	T	C49619031T	SPOP	NM_001007228.2(SPOP):c.430G>A:p.Asp144Asn	coding	Pathogenic/Likely_pathogenic
17	49619099	C	T	C49619099T	SPOP	NM_001007228.2(SPOP):c.362G>A:p.Arg121Gln	coding	Pathogenic/Likely_pathogenic
17	49619363	C	T	C49619363T	SPOP	NM_001007228.2(SPOP):c.223G>A:p.Gly75Arg	coding	Pathogenic
17	49991550	G	A	G49991550A	DLX3	NM_005220.3(DLX3):c.831C>T:p.Pro277=	coding	Benign
17	49991847	C	G	C49991847G	DLX3	NM_005220.3(DLX3):c.534G>C:p.Gln178His	coding	Pathogenic
17	49991924	G	C	G49991924C	DLX3	NM_005220.3(DLX3):c.517-60C>G	noncoding	Benign
17	49993279	A	G	A49993279G	DLX3	NM_005220.3(DLX3):c.516+121T>C	noncoding	Benign
17	49993377	G	A	G49993377A	DLX3	NM_005220.3(DLX3):c.516+23C>T	noncoding	Benign
17	49993774	G	T	G49993774T	DLX3	NM_005220.3(DLX3):c.326-184C>A	noncoding	Benign
17	49994440	T	C	T49994440C	DLX3	NM_005220.3(DLX3):c.325+234A>G	noncoding	Benign
17	49994479	C	T	C49994479T	DLX3	NM_005220.3(DLX3):c.325+195G>A	noncoding	Benign
17	49995501	C	T	C49995501T	DLX3	Single_allele	noncoding	Benign
17	50055949	A	C	A50055949C	ITGA3	Single_allele	noncoding	Benign
17	50056099	G	C	G50056099C	ITGA3	Single_allele	noncoding	Benign
17	50063970	G	A	G50063970A	ITGA3	NM_002204.4(ITGA3):c.207-107G>A	noncoding	Benign
17	50064059	C	T	C50064059T	ITGA3	NM_002204.4(ITGA3):c.207-18C>T	noncoding	Benign
17	50064645	C	T	C50064645T	ITGA3	NM_002204.4(ITGA3):c.414+38C>T	noncoding	Benign
17	50067730	C	T	C50067730T	ITGA3	NM_002204.4(ITGA3):c.415-326C>T	noncoding	Benign
17	50067905	G	A	G50067905A	ITGA3	NM_002204.4(ITGA3):c.415-151G>A	noncoding	Benign
17	50068420	G	A	G50068420A	ITGA3	NM_002204.4(ITGA3):c.664+115G>A	noncoding	Benign
17	50071049	G	A	G50071049A	ITGA3	NM_002204.4(ITGA3):c.751+119G>A	noncoding	Benign
17	50071092	A	C	A50071092C	ITGA3	NM_002204.4(ITGA3):c.751+162A>C	noncoding	Benign
17	50072022	C	T	C50072022T	ITGA3	NM_002204.4(ITGA3):c.996C>T:p.Phe332=	coding	Benign
17	50073989	T	C	T50073989C	ITGA3	NM_002204.4(ITGA3):c.1230T>C:p.Leu410=	coding	Benign
17	50074612	C	T	C50074612T	ITGA3	NM_002204.4(ITGA3):c.1469+78C>T	noncoding	Benign
17	50075448	C	T	C50075448T	ITGA3	NM_002204.4(ITGA3):c.1470-11C>T	noncoding	Benign/Likely_benign
17	50075542	C	T	C50075542T	ITGA3	NM_002204.4(ITGA3):c.1537+16C>T	noncoding	Benign
17	50075852	A	G	A50075852G	ITGA3	NM_002204.4(ITGA3):c.1674+117A>G	noncoding	Benign
17	50076560	T	C	T50076560C	ITGA3	NM_002204.4(ITGA3):c.1825-24T>C	noncoding	Benign
17	50076926	T	G	T50076926G	ITGA3	NM_002204.4(ITGA3):c.1923-48T>G	noncoding	Benign
17	50077097	C	T	C50077097T	ITGA3	NM_002204.4(ITGA3):c.2046C>T:p.Ala682=	coding	Benign/Likely_benign
17	50077253	C	A	C50077253A	ITGA3	NM_002204.4(ITGA3):c.2071-126C>A	noncoding	Benign
17	50077911	A	T	A50077911T	ITGA3	NM_002204.4(ITGA3):c.2140-135A>T	noncoding	Benign
17	50078061	G	A	G50078061A	ITGA3	NM_002204.4(ITGA3):c.2155G>A:p.Ala719Thr	coding	Benign
17	50078090	C	T	C50078090T	ITGA3	NM_002204.4(ITGA3):c.2184C>T:p.His728=	coding	Benign
17	50078407	C	T	C50078407T	ITGA3	NM_002204.4(ITGA3):c.2297+123C>T	noncoding	Benign
17	50078437	A	G	A50078437G	ITGA3	NM_002204.4(ITGA3):c.2297+153A>G	noncoding	Benign
17	50078933	G	A	G50078933A	ITGA3	NM_002204.4(ITGA3):c.2400+7G>A	noncoding	Benign
17	50080039	A	G	A50080039G	ITGA3	NM_002204.4(ITGA3):c.2707-223A>G	noncoding	Benign
17	50080137	A	T	A50080137T	ITGA3	NM_002204.4(ITGA3):c.2707-125A>T	noncoding	Benign
17	50080244	G	A	G50080244A	ITGA3	NM_002204.4(ITGA3):c.2707-18G>A	noncoding	Benign
17	50080248	C	T	C50080248T	ITGA3	NM_002204.4(ITGA3):c.2707-14C>T	noncoding	Benign
17	50080388	G	T	G50080388T	ITGA3	NM_002204.4(ITGA3):c.2820+13G>T	noncoding	Benign
17	50080505	T	A	T50080505A	ITGA3	NM_002204.4(ITGA3):c.2820+130T>A	noncoding	Benign
17	50080529	G	A	G50080529A	ITGA3	NM_002204.4(ITGA3):c.2820+154G>A	noncoding	Benign
17	50080557	A	G	A50080557G	ITGA3	NM_002204.4(ITGA3):c.2820+182A>G	noncoding	Benign
17	50080685	T	C	T50080685C	ITGA3	NM_002204.4(ITGA3):c.2820+310T>C	noncoding	Benign
17	50081117	G	T	G50081117T	ITGA3	NM_002204.4(ITGA3):c.2821-193G>T	noncoding	Benign
17	50081316	A	G	A50081316G	ITGA3	NM_002204.4(ITGA3):c.2827A>G:p.Arg943Gly	coding	Benign/Likely_benign
17	50081321	C	T	C50081321T	ITGA3	NM_002204.4(ITGA3):c.2832C>T:p.Asp944=	coding	Benign
17	50081479	G	C	G50081479C	ITGA3	NM_002204.4(ITGA3):c.2919+71G>C	noncoding	Benign
17	50087700	T	C	T50087700C	ITGA3	NM_002204.4(ITGA3):c.2920-44T>C	noncoding	Benign
17	50087732	T	C	T50087732C	ITGA3	NM_002204.4(ITGA3):c.2920-12T>C	noncoding	Benign/Likely_benign
17	50088006	A	C	A50088006C	ITGA3	NM_002204.4(ITGA3):c.3045+137A>C	noncoding	Benign
17	50088021	T	G	T50088021G	ITGA3	NM_002204.4(ITGA3):c.3045+152T>G	noncoding	Benign
17	50088055	C	T	C50088055T	ITGA3	NM_002204.4(ITGA3):c.3046-170C>T	noncoding	Benign
17	50088967	T	C	T50088967C	ITGA3	NM_002204.4(ITGA3):c.*32-143T>C	noncoding	Benign
17	50089507	G	A	G50089507A	ITGA3	NM_002204.4(ITGA3):c.*429G>A	noncoding	Benign
17	50089508	G	A	G50089508A	ITGA3	NM_002204.4(ITGA3):c.*430G>A	noncoding	Benign
17	50089510	G	C	G50089510C	ITGA3	NM_002204.4(ITGA3):c.*432G>C	noncoding	Benign
17	50089559	C	G	C50089559G	ITGA3	NM_002204.4(ITGA3):c.*481C>G	noncoding	Benign
17	50150022	C	G	C50150022G	PPP1R9B	NM_032595.5(PPP1R9B):c.492G>C:p.Glu164Asp	coding	Benign
17	50167031	C	A	C50167031A	SGCA	NM_000023.4(SGCA):c.38-337C>A	noncoding	Benign
17	50167031	C	T	C50167031T	SGCA	NM_000023.4(SGCA):c.38-337C>T	noncoding	Benign
17	50167400	C	T	C50167400T	SGCA	NM_000023.4(SGCA):c.70C>T:p.Gln24Ter	coding	Pathogenic
17	50167425	T	C	T50167425C	SGCA	NM_000023.4(SGCA):c.95T>C:p.Val32Ala	coding	Pathogenic
17	50167488	G	A	G50167488A	SGCA	NM_000023.4(SGCA):c.157+1G>A	coding	Pathogenic
17	50167644	C	T	C50167644T	SGCA	NM_000023.4(SGCA):c.220C>T:p.Arg74Trp	coding	Pathogenic/Likely_pathogenic
17	50167650	C	T	C50167650T	SGCA	NM_000023.4(SGCA):c.226C>T:p.Leu76Phe	coding	Pathogenic/Likely_pathogenic
17	50167662	C	T	C50167662T	SGCA	NM_000023.4(SGCA):c.238C>T:p.Gln80Ter	coding	Pathogenic
17	50168390	C	A	C50168390A	SGCA	NM_000023.4(SGCA):c.402C>A:p.Tyr134Ter	coding	Pathogenic
17	50170223	C	A	C50170223A	SGCA	NM_000023.4(SGCA):c.828C>A:p.Cys276Ter	coding	Pathogenic
17	50185510	A	G	A50185510G	COL1A1	NM_000088.4(COL1A1):c.4387T>C:p.Phe1463Leu	coding	Benign
17	50185788	T	C	T50185788C	COL1A1	NM_000088.4(COL1A1):c.4238A>G:p.Asp1413Gly	coding	Pathogenic
17	50185837	C	A	C50185837A	COL1A1	NM_000088.4(COL1A1):c.4189G>T:p.Glu1397Ter	coding	Pathogenic
17	50186021	C	T	C50186021T	COL1A1	NM_000088.4(COL1A1):c.4006-1G>A	coding	Pathogenic
17	50186053	C	T	C50186053T	COL1A1	NM_000088.4(COL1A1):c.4006-33G>A	noncoding	Benign/Likely_benign
17	50186357	C	T	C50186357T	COL1A1	NM_000088.4(COL1A1):c.3965G>A:p.Arg1322Lys	coding	Benign/Likely_benign
17	50186397	G	A	G50186397A	COL1A1	NM_000088.4(COL1A1):c.3925C>T:p.Gln1309Ter	coding	Pathogenic
17	50186412	G	A	G50186412A	COL1A1	NM_000088.4(COL1A1):c.3910C>T:p.Gln1304Ter	coding	Pathogenic
17	50186419	G	T	G50186419T	COL1A1	NM_000088.4(COL1A1):c.3903C>A:p.Tyr1301Ter	coding	Pathogenic
17	50186446	G	A	G50186446A	COL1A1	NM_000088.4(COL1A1):c.3876C>T:p.Asn1292=	coding	Benign/Likely_benign
17	50186467	A	T	A50186467T	COL1A1	NM_000088.4(COL1A1):c.3855T>A:p.Asp1285Glu	coding	Pathogenic
17	50186525	A	G	A50186525G	COL1A1	NM_000088.4(COL1A1):c.3815-18T>C	noncoding	Benign
17	50186638	A	G	A50186638G	COL1A1	NM_000088.4(COL1A1):c.3814+2T>C	noncoding	Pathogenic
17	50186639	C	G	C50186639G	COL1A1	NM_000088.4(COL1A1):c.3814+1G>C	noncoding	Pathogenic
17	50186648	C	T	C50186648T	COL1A1	NM_000088.4(COL1A1):c.3806G>A:p.Trp1269Ter	coding	Pathogenic/Likely_pathogenic
17	50186885	C	T	C50186885T	COL1A1	NM_000088.4(COL1A1):c.3569G>A:p.Gly1190Asp	coding	Pathogenic
17	50187010	C	T	C50187010T	COL1A1	NM_000088.4(COL1A1):c.3531+5G>A	noncoding	Pathogenic
17	50187076	C	T	C50187076T	COL1A1	NM_000088.4(COL1A1):c.3470G>A:p.Gly1157Asp	coding	Pathogenic
17	50187522	G	A	G50187522A	COL1A1	NM_000088.4(COL1A1):c.3385C>T:p.Gln1129Ter	coding	Pathogenic
17	50187936	G	A	G50187936A	COL1A1	NM_000088.4(COL1A1):c.3309C>T:p.Gly1103=	coding	Benign/Likely_benign
17	50187941	G	A	G50187941A	COL1A1	NM_000088.4(COL1A1):c.3304C>T:p.Gln1102Ter	coding	Pathogenic
17	50187977	G	A	G50187977A	COL1A1	NM_000088.4(COL1A1):c.3268C>T:p.Gln1090Ter	coding	Pathogenic
17	50187984	C	T	C50187984T	COL1A1	NM_000088.4(COL1A1):c.3262-1G>A	coding	Pathogenic
17	50188095	C	T	C50188095T	COL1A1	NM_000088.4(COL1A1):c.3261+1G>A	noncoding	Pathogenic/Likely_pathogenic
17	50188102	G	A	G50188102A	COL1A1	NM_000088.4(COL1A1):c.3255C>T:p.Gly1085=	coding	Benign/Likely_benign
17	50188181	G	T	G50188181T	COL1A1	NM_000088.4(COL1A1):c.3208-32C>A	noncoding	Benign
17	50188367	C	A	C50188367A	COL1A1	NM_000088.4(COL1A1):c.3207+163G>T	noncoding	Benign
17	50188528	A	G	A50188528G	COL1A1	NM_000088.4(COL1A1):c.3207+2T>C	noncoding	Pathogenic
17	50188785	C	G	C50188785G	COL1A1	NM_000088.4(COL1A1):c.3056G>C:p.Gly1019Ala	coding	Pathogenic
17	50188796	C	A	C50188796A	COL1A1	NM_000088.4(COL1A1):c.3046-1G>T	coding	Pathogenic
17	50188934	A	T	A50188934T	COL1A1	NM_000088.4(COL1A1):c.3014T>A:p.Leu1005Ter	coding	Pathogenic
17	50188975	A	G	A50188975G	COL1A1	NM_000088.4(COL1A1):c.2973T>C:p.Ser991=	coding	Benign/Likely_benign
17	50189502	C	T	C50189502T	COL1A1	NM_000088.4(COL1A1):c.2704G>A:p.Gly902Ser	coding	Pathogenic
17	50189528	C	G	C50189528G	COL1A1	NM_000088.4(COL1A1):c.2678G>C:p.Gly893Ala	coding	Pathogenic
17	50189734	T	C	T50189734C	COL1A1	NM_000088.4(COL1A1):c.2614-2A>G	noncoding	Pathogenic
17	50189754	A	G	A50189754G	COL1A1	NM_000088.4(COL1A1):c.2614-22T>C	noncoding	Benign
17	50189888	T	A	T50189888A	COL1A1	NM_000088.4(COL1A1):c.2584A>T:p.Lys862Ter	coding	Pathogenic
17	50189913	C	T	C50189913T	COL1A1	NM_000088.4(COL1A1):c.2560-1G>A	coding	Pathogenic
17	50190094	T	C	T50190094C	COL1A1	NM_000088.4(COL1A1):c.2466A>G:p.Gln822=	coding	Benign/Likely_benign
17	50190108	C	T	C50190108T	COL1A1	NM_000088.4(COL1A1):c.2452G>A:p.Gly818Ser	coding	Pathogenic/Likely_pathogenic
17	50190224	A	C	A50190224C	COL1A1	NM_000088.4(COL1A1):c.2451+103T>G	noncoding	Benign
17	50190322	C	T	C50190322T	COL1A1	NM_000088.4(COL1A1):c.2451+5G>A	noncoding	Pathogenic
17	50190353	C	T	C50190353T	COL1A1	NM_000088.4(COL1A1):c.2425G>A:p.Gly809Ser	coding	Pathogenic
17	50190382	T	C	T50190382C	COL1A1	NM_000088.4(COL1A1):c.2398-2A>G	noncoding	Pathogenic
17	50190783	G	T	G50190783T	COL1A1	NM_000088.4(COL1A1):c.2343+34C>A	noncoding	Benign
17	50190886	G	A	G50190886A	COL1A1	NM_000088.4(COL1A1):c.2274C>T:p.Gly758=	coding	Benign/Likely_benign
17	50190980	G	A	G50190980A	COL1A1	NM_000088.4(COL1A1):c.2236-56C>T	noncoding	Benign
17	50191082	G	T	G50191082T	COL1A1	NM_000088.4(COL1A1):c.2236-158C>A	noncoding	Benign
17	50191368	G	A	G50191368A	COL1A1	NM_000088.4(COL1A1):c.2235+15C>T	noncoding	Benign/Likely_benign
17	50191418	C	T	C50191418T	COL1A1	NM_000088.4(COL1A1):c.2200G>A:p.Gly734Ser	coding	Pathogenic
17	50191660	C	G	C50191660G	COL1A1	NM_000088.4(COL1A1):c.2127+128G>C	noncoding	Benign
17	50191795	C	T	C50191795T	COL1A1	NM_000088.4(COL1A1):c.2120G>A:p.Gly707Asp	coding	Pathogenic
17	50191814	C	T	C50191814T	COL1A1	NM_000088.4(COL1A1):c.2101G>A:p.Gly701Ser	coding	Pathogenic/Likely_pathogenic
17	50191853	G	A	G50191853A	COL1A1	NM_000088.4(COL1A1):c.2062C>T:p.Gln688Ter	coding	Pathogenic/Likely_pathogenic
17	50191887	C	A	C50191887A	COL1A1	NM_000088.4(COL1A1):c.2029-1G>T	coding	Pathogenic
17	50191982	T	A	T50191982A	COL1A1	NM_000088.4(COL1A1):c.2026A>T:p.Arg676Ter	coding	Pathogenic
17	50192025	C	T	C50192025T	COL1A1	NM_000088.4(COL1A1):c.1984-1G>A	coding	Pathogenic
17	50192026	T	A	T50192026A	COL1A1	NM_000088.4(COL1A1):c.1984-2A>T	noncoding	Pathogenic
17	50192026	T	G	T50192026G	COL1A1	NM_000088.4(COL1A1):c.1984-2A>C	noncoding	Pathogenic
17	50192031	G	C	G50192031C	COL1A1	NM_000088.4(COL1A1):c.1984-7C>G	noncoding	Benign/Likely_benign
17	50192037	G	T	G50192037T	COL1A1	NM_000088.4(COL1A1):c.1984-13C>A	noncoding	Benign/Likely_benign
17	50192477	G	A	G50192477A	COL1A1	NM_000088.4(COL1A1):c.1981C>T:p.Gln661Ter	coding	Pathogenic
17	50192530	T	C	T50192530C	COL1A1	NM_000088.4(COL1A1):c.1930-2A>G	noncoding	Pathogenic
17	50192648	C	A	C50192648A	COL1A1	NM_000088.4(COL1A1):c.1921G>T:p.Gly641Ter	coding	Pathogenic
17	50192648	C	T	C50192648T	COL1A1	NM_000088.4(COL1A1):c.1921G>A:p.Gly641Arg	coding	Pathogenic
17	50192649	G	A	G50192649A	COL1A1	NM_000088.4(COL1A1):c.1920C>T:p.Pro640=	coding	Benign/Likely_benign
17	50192695	T	C	T50192695C	COL1A1	NM_000088.4(COL1A1):c.1876-2A>G	noncoding	Pathogenic
17	50192737	G	A	G50192737A	COL1A1	NM_000088.4(COL1A1):c.1876-44C>T	noncoding	Benign
17	50193011	C	A	C50193011A	COL1A1	NM_000088.4(COL1A1):c.1804G>T:p.Gly602Ter	coding	Pathogenic
17	50193011	C	T	C50193011T	COL1A1	NM_000088.4(COL1A1):c.1804G>A:p.Gly602Arg	coding	Pathogenic
17	50193037	C	G	C50193037G	COL1A1	NM_000088.4(COL1A1):c.1778G>C:p.Gly593Ala	coding	Pathogenic
17	50193942	C	T	C50193942T	COL1A1	NM_000088.4(COL1A1):c.1767+1G>A	noncoding	Pathogenic
17	50194114	G	A	G50194114A	COL1A1	NM_000088.4(COL1A1):c.1668+16C>T	noncoding	Benign/Likely_benign
17	50194160	G	A	G50194160A	COL1A1	NM_000088.4(COL1A1):c.1638C>T:p.Ser546=	coding	Benign/Likely_benign
17	50194543	G	C	G50194543C	COL1A1	NM_000088.4(COL1A1):c.1515+30C>G	noncoding	Benign
17	50194617	C	T	C50194617T	COL1A1	NM_000088.4(COL1A1):c.1471G>A:p.Gly491Ser	coding	Pathogenic
17	50194626	C	T	C50194626T	COL1A1	NM_000088.4(COL1A1):c.1462G>A:p.Gly488Ser	coding	Pathogenic/Likely_pathogenic
17	50194659	G	A	G50194659A	COL1A1	NM_000088.4(COL1A1):c.1462-33C>T	noncoding	Benign
17	50194705	G	A	G50194705A	COL1A1	NM_000088.4(COL1A1):c.1461+16C>T	noncoding	Benign
17	50194738	C	T	C50194738T	COL1A1	NM_000088.4(COL1A1):c.1444G>A:p.Gly482Arg	coding	Pathogenic
17	50195293	C	G	C50195293G	COL1A1	NM_000088.4(COL1A1):c.1238G>C:p.Gly413Ala	coding	Pathogenic
17	50195432	A	T	A50195432T	COL1A1	NM_000088.4(COL1A1):c.1200+2T>A	noncoding	Pathogenic
17	50195457	G	A	G50195457A	COL1A1	NM_000088.4(COL1A1):c.1177C>T:p.Gln393Ter	coding	Pathogenic
17	50195566	C	A	C50195566A	COL1A1	NM_000088.4(COL1A1):c.1155+1G>T	noncoding	Pathogenic
17	50195566	C	G	C50195566G	COL1A1	NM_000088.4(COL1A1):c.1155+1G>C	noncoding	Pathogenic
17	50195583	C	G	C50195583G	COL1A1	NM_000088.4(COL1A1):c.1139G>C:p.Gly380Ala	coding	Pathogenic
17	50195619	C	A	C50195619A	COL1A1	NM_000088.4(COL1A1):c.1103G>T:p.Gly368Val	coding	Pathogenic
17	50195619	C	G	C50195619G	COL1A1	NM_000088.4(COL1A1):c.1103G>C:p.Gly368Ala	coding	Pathogenic/Likely_pathogenic
17	50195620	C	A	C50195620A	COL1A1	NM_000088.4(COL1A1):c.1102G>T:p.Gly368Cys	coding	Pathogenic
17	50195628	C	A	C50195628A	COL1A1	NM_000088.4(COL1A1):c.1094G>T:p.Gly365Val	coding	Pathogenic
17	50195685	A	G	A50195685G	COL1A1	NM_000088.4(COL1A1):c.1057-20T>C	noncoding	Benign
17	50195794	A	C	A50195794C	COL1A1	NM_000088.4(COL1A1):c.1056+129T>G	noncoding	Benign
17	50195976	C	T	C50195976T	COL1A1	NM_000088.4(COL1A1):c.1003G>A:p.Gly335Ser	coding	Pathogenic
17	50195977	C	T	C50195977T	COL1A1	NM_000088.4(COL1A1):c.1003-1G>A	coding	Pathogenic/Likely_pathogenic
17	50196181	C	G	C50196181G	COL1A1	NM_000088.4(COL1A1):c.976G>C:p.Gly326Arg	coding	Pathogenic
17	50196340	C	G	C50196340G	COL1A1	NM_000088.4(COL1A1):c.931G>C:p.Gly311Arg	coding	Pathogenic
17	50196358	C	T	C50196358T	COL1A1	NM_000088.4(COL1A1):c.913G>A:p.Gly305Ser	coding	Pathogenic
17	50196376	C	T	C50196376T	COL1A1	NM_000088.4(COL1A1):c.904-9G>A	noncoding	Pathogenic
17	50196528	C	T	C50196528T	COL1A1	NM_000088.4(COL1A1):c.859G>A:p.Gly287Ser	coding	Pathogenic
17	50196529	C	T	C50196529T	COL1A1	NM_000088.4(COL1A1):c.859-1G>A	coding	Pathogenic
17	50196593	C	T	C50196593T	COL1A1	NM_000088.4(COL1A1):c.858+24G>A	noncoding	Benign
17	50196670	C	T	C50196670T	COL1A1	NM_000088.4(COL1A1):c.805G>A:p.Gly269Ser	coding	Pathogenic/Likely_pathogenic
17	50197026	C	T	C50197026T	COL1A1	NM_000088.4(COL1A1):c.788G>A:p.Gly263Glu	coding	Pathogenic
17	50197399	T	G	T50197399G	COL1A1	NM_000088.4(COL1A1):c.697-166A>C	noncoding	Benign
17	50197731	C	T	C50197731T	COL1A1	NM_000088.4(COL1A1):c.696+1G>A	noncoding	Pathogenic
17	50197776	C	A	C50197776A	COL1A1	NM_000088.4(COL1A1):c.652G>T:p.Gly218Cys	coding	Pathogenic
17	50197776	C	G	C50197776G	COL1A1	NM_000088.4(COL1A1):c.652G>C:p.Gly218Arg	coding	Pathogenic
17	50197938	A	G	A50197938G	COL1A1	NM_000088.4(COL1A1):c.642+11T>C	noncoding	Benign/Likely_benign
17	50197947	A	T	A50197947T	COL1A1	NM_000088.4(COL1A1):c.642+2T>A	noncoding	Pathogenic
17	50197965	C	T	C50197965T	COL1A1	NM_000088.4(COL1A1):c.626G>A:p.Gly209Asp	coding	Pathogenic
17	50197996	G	A	G50197996A	COL1A1	NM_000088.4(COL1A1):c.595C>T:p.Gln199Ter	coding	Pathogenic
17	50198001	C	A	C50198001A	COL1A1	NM_000088.4(COL1A1):c.590G>T:p.Gly197Val	coding	Pathogenic/Likely_pathogenic
17	50198004	T	C	T50198004C	COL1A1	NM_000088.4(COL1A1):c.589-2A>G	noncoding	Pathogenic
17	50198020	A	C	A50198020C	COL1A1	NM_000088.4(COL1A1):c.589-18T>G	noncoding	Benign
17	50198168	C	T	C50198168T	COL1A1	NM_000088.4(COL1A1):c.581G>A:p.Gly194Asp	coding	Pathogenic
17	50198169	C	G	C50198169G	COL1A1	NM_000088.4(COL1A1):c.580G>C:p.Gly194Arg	coding	Pathogenic
17	50198432	C	A	C50198432A	COL1A1	NM_000088.4(COL1A1):c.543+1G>T	noncoding	Pathogenic
17	50198432	C	G	C50198432G	COL1A1	NM_000088.4(COL1A1):c.543+1G>C	noncoding	Pathogenic
17	50198459	C	A	C50198459A	COL1A1	NM_000088.4(COL1A1):c.517G>T:p.Gly173Ter	coding	Pathogenic/Likely_pathogenic
17	50198673	G	C	G50198673C	COL1A1	NM_000088.4(COL1A1):c.472-169C>G	noncoding	Benign
17	50199021	A	G	A50199021G	COL1A1	NM_000088.4(COL1A1):c.471+205T>C	noncoding	Benign
17	50199328	C	A	C50199328A	COL1A1	NM_000088.4(COL1A1):c.370-1G>T	coding	Pathogenic
17	50199328	C	T	C50199328T	COL1A1	NM_000088.4(COL1A1):c.370-1G>A	coding	Pathogenic
17	50199555	C	T	C50199555T	COL1A1	NM_000088.4(COL1A1):c.333+1G>A	noncoding	Pathogenic
17	50199556	C	T	C50199556T	COL1A1	NM_000088.4(COL1A1):c.333G>A:p.Glu111=	coding	Pathogenic
17	50199573	C	A	C50199573A	COL1A1	NM_000088.4(COL1A1):c.316G>T:p.Glu106Ter	coding	Pathogenic
17	50199783	C	A	C50199783A	COL1A1	NM_000088.4(COL1A1):c.268G>T:p.Glu90Ter	coding	Pathogenic
17	50199841	G	T	G50199841T	COL1A1	NM_000088.4(COL1A1):c.210C>A:p.Cys70Ter	coding	Pathogenic
17	50199949	T	A	T50199949A	COL1A1	NM_000088.4(COL1A1):c.104-2A>T	noncoding	Pathogenic
17	50201395	A	C	A50201395C	COL1A1	NM_000088.4(COL1A1):c.103+16T>G	noncoding	Benign
17	50345953	G	A	G50345953A	XYLT2	Single_allele	noncoding	Benign
17	50346069	G	C	G50346069C	XYLT2	Single_allele	noncoding	Benign
17	50346170	G	T	G50346170T	XYLT2	NM_022167.4(XYLT2):c.30G>T:p.Leu10=	coding	Benign
17	50346373	G	C	G50346373C	XYLT2	NM_022167.4(XYLT2):c.135+98G>C	noncoding	Benign
17	50353603	A	C	A50353603C	XYLT2	NM_022167.4(XYLT2):c.136-27A>C	noncoding	Benign
17	50353660	G	A	G50353660A	XYLT2	NM_022167.4(XYLT2):c.166G>A:p.Asp56Asn	coding	Benign/Likely_benign
17	50353671	G	A	G50353671A	XYLT2	NM_022167.4(XYLT2):c.177G>A:p.Glu59=	coding	Benign
17	50353836	C	T	C50353836T	XYLT2	NM_022167.4(XYLT2):c.342C>T:p.Pro114=	coding	Benign
17	50353947	C	T	C50353947T	XYLT2	NM_022167.4(XYLT2):c.453C>T:p.Pro151=	coding	Benign
17	50354439	G	C	G50354439C	XYLT2	NM_022167.4(XYLT2):c.660G>C:p.Glu220Asp	coding	Benign/Likely_benign
17	50354709	A	G	A50354709G	XYLT2	NM_022167.4(XYLT2):c.804+126A>G	noncoding	Benign
17	50354963	G	C	G50354963C	XYLT2	NM_022167.4(XYLT2):c.914G>C:p.Arg305Thr	coding	Benign
17	50355076	A	T	A50355076T	XYLT2	NM_022167.4(XYLT2):c.1007+20A>T	noncoding	Benign
17	50355320	G	A	G50355320A	XYLT2	NM_022167.4(XYLT2):c.1008-181G>A	noncoding	Benign
17	50355720	G	A	G50355720A	XYLT2	NM_022167.4(XYLT2):c.1089-61G>A	noncoding	Benign
17	50355772	T	C	T50355772C	XYLT2	NM_022167.4(XYLT2):c.1089-9T>C	noncoding	Benign/Likely_benign
17	50355945	C	T	C50355945T	XYLT2	NM_022167.4(XYLT2):c.1253C>T:p.Pro418Leu	coding	Benign/Likely_benign
17	50356026	G	C	G50356026C	XYLT2	NM_022167.4(XYLT2):c.1305+29G>C	noncoding	Benign
17	50356342	A	C	A50356342C	XYLT2	NM_022167.4(XYLT2):c.1482+81A>C	noncoding	Benign
17	50356413	C	T	C50356413T	XYLT2	NM_022167.4(XYLT2):c.1483-98C>T	noncoding	Benign
17	50356491	C	T	C50356491T	XYLT2	NM_022167.4(XYLT2):c.1483-20C>T	noncoding	Benign
17	50356597	T	C	T50356597C	XYLT2	NM_022167.4(XYLT2):c.1569T>C:p.Tyr523=	coding	Benign
17	50356789	G	C	G50356789C	XYLT2	NM_022167.4(XYLT2):c.1745+16G>C	noncoding	Benign
17	50357249	G	A	G50357249A	XYLT2	NM_022167.4(XYLT2):c.1938G>A:p.Leu646=	coding	Benign
17	50357319	G	A	G50357319A	XYLT2	NM_022167.4(XYLT2):c.1941+67G>A	noncoding	Benign
17	50357378	C	T	C50357378T	XYLT2	NM_022167.4(XYLT2):c.1941+126C>T	noncoding	Benign
17	50358090	A	C	A50358090C	XYLT2	NM_022167.4(XYLT2):c.1942-117A>C	noncoding	Benign
17	50359932	G	A	G50359932A	XYLT2	NM_022167.4(XYLT2):c.2276-37G>A	noncoding	Benign
17	50560854	G	A	G50560854A	CACNA1G	NM_018896.5(CACNA1G):c.-606G>A	noncoding	Benign
17	50561537	G	A	G50561537A	CACNA1G	NM_018896.5(CACNA1G):c.78G>A:p.Ser26=	coding	Benign/Likely_benign
17	50562006	C	A	C50562006A	CACNA1G	NM_018896.5(CACNA1G):c.242+305C>A	coding	Benign
17	50568913	G	A	G50568913A	CACNA1G	NM_018896.5(CACNA1G):c.286G>A:p.Val96Met	coding	Benign
17	50569650	T	G	T50569650G	CACNA1G	NM_018896.5(CACNA1G):c.489-56T>G	noncoding	Benign
17	50572397	C	T	C50572397T	CACNA1G	NM_018896.5(CACNA1G):c.747-157C>T	noncoding	Benign
17	50572416	C	G	C50572416G	CACNA1G	NM_018896.5(CACNA1G):c.747-138C>G	noncoding	Benign
17	50572665	C	A	C50572665A	CACNA1G	NM_018896.5(CACNA1G):c.858C>A:p.Pro286=	coding	Benign
17	50572702	G	A	G50572702A	CACNA1G	NM_018896.5(CACNA1G):c.895G>A:p.Gly299Ser	coding	Benign/Likely_benign
17	50575445	G	A	G50575445A	CACNA1G	NM_018896.5(CACNA1G):c.1141-98G>A	noncoding	Benign
17	50575472	C	T	C50575472T	CACNA1G	NM_018896.5(CACNA1G):c.1141-71C>T	noncoding	Benign
17	50575514	A	G	A50575514G	CACNA1G	NM_018896.5(CACNA1G):c.1141-29A>G	noncoding	Benign
17	50575881	C	T	C50575881T	CACNA1G	NM_018896.5(CACNA1G):c.1479C>T:p.His493=	coding	Benign
17	50576048	G	C	G50576048C	CACNA1G	NM_018896.5(CACNA1G):c.1646G>C:p.Gly549Ala	coding	Benign/Likely_benign
17	50576220	A	G	A50576220G	CACNA1G	NM_018896.5(CACNA1G):c.1818A>G:p.Ala606=	coding	Benign/Likely_benign
17	50576463	A	G	A50576463G	CACNA1G	NM_018896.5(CACNA1G):c.1924+137A>G	noncoding	Benign
17	50578132	A	G	A50578132G	CACNA1G	NM_018896.5(CACNA1G):c.1925-56A>G	noncoding	Benign
17	50578332	G	A	G50578332A	CACNA1G	NM_018896.5(CACNA1G):c.2069G>A:p.Ser690Asn	coding	Benign/Likely_benign
17	50578727	G	A	G50578727A	CACNA1G	NM_018896.5(CACNA1G):c.2301+163G>A	noncoding	Benign
17	50578763	T	C	T50578763C	CACNA1G	NM_018896.5(CACNA1G):c.2301+199T>C	noncoding	Benign
17	50590195	C	G	C50590195G	CACNA1G	NM_018896.5(CACNA1G):c.2302-276C>G	noncoding	Benign
17	50590373	A	G	A50590373G	CACNA1G	NM_018896.5(CACNA1G):c.2302-98A>G	noncoding	Benign
17	50590652	G	C	G50590652C	CACNA1G	NM_018896.5(CACNA1G):c.2453+30G>C	noncoding	Benign
17	50590730	A	C	A50590730C	CACNA1G	NM_018896.5(CACNA1G):c.2453+108A>C	noncoding	Benign
17	50591292	A	G	A50591292G	CACNA1G	NM_018896.5(CACNA1G):c.2454-143A>G	noncoding	Benign
17	50591359	C	A	C50591359A	CACNA1G	NM_018896.5(CACNA1G):c.2454-76C>A	noncoding	Benign
17	50591665	T	C	T50591665C	CACNA1G	NM_018896.5(CACNA1G):c.2639+45T>C	noncoding	Benign
17	50592326	T	G	T50592326G	CACNA1G	NM_018896.5(CACNA1G):c.2910+234T>G	noncoding	Benign
17	50595076	A	G	A50595076G	CACNA1G	NM_018896.5(CACNA1G):c.2979+15A>G	noncoding	Benign
17	50597184	G	A	G50597184A	CACNA1G	NM_018896.5(CACNA1G):c.3258+261G>A	noncoding	Benign
17	50600739	G	A	G50600739A	CACNA1G	NM_018896.5(CACNA1G):c.3704G>A:p.Arg1235Gln	coding	Benign/Likely_benign
17	50600964	A	T	A50600964T	CACNA1G	NM_018896.5(CACNA1G):c.3792-87A>T	noncoding	Benign
17	50601410	T	C	T50601410C	CACNA1G	NM_018896.5(CACNA1G):c.3915+236T>C	noncoding	Benign
17	50603185	C	G	C50603185G	CACNA1G	NM_018896.5(CACNA1G):c.4155C>G:p.Thr1385=	coding	Benign
17	50603296	T	C	T50603296C	CACNA1G	NM_018896.5(CACNA1G):c.4169+97T>C	noncoding	Benign
17	50603412	T	G	T50603412G	CACNA1G	NM_018896.5(CACNA1G):c.4169+213T>G	noncoding	Benign
17	50603419	T	A	T50603419A	CACNA1G	NM_018896.5(CACNA1G):c.4169+220T>A	noncoding	Benign
17	50604498	C	A	C50604498A	CACNA1G	NM_018896.5(CACNA1G):c.4296+217C>A	noncoding	Benign
17	50605562	T	C	T50605562C	CACNA1G	NM_018896.5(CACNA1G):c.4297-336T>C	noncoding	Benign
17	50605823	G	A	G50605823A	CACNA1G	NM_018896.5(CACNA1G):c.4297-75G>A	noncoding	Benign
17	50605839	G	C	G50605839C	CACNA1G	NM_018896.5(CACNA1G):c.4297-59G>C	noncoding	Benign
17	50606675	C	T	C50606675T	CACNA1G	NM_018896.5(CACNA1G):c.4423-225C>T	noncoding	Benign
17	50607658	C	A	C50607658A	CACNA1G	NM_018896.5(CACNA1G):c.4513-169C>A	noncoding	Benign
17	50610069	C	T	C50610069T	CACNA1G	NM_018896.5(CACNA1G):c.4759+134C>T	noncoding	Benign
17	50615761	T	C	T50615761C	CACNA1G	NM_018896.5(CACNA1G):c.4911+249T>C	noncoding	Benign
17	50615794	G	A	G50615794A	CACNA1G	NM_018896.5(CACNA1G):c.4911+282G>A	noncoding	Benign
17	50616398	G	A	G50616398A	CACNA1G	NM_018896.5(CACNA1G):c.5021+14G>A	noncoding	Benign
17	50616399	G	C	G50616399C	CACNA1G	NM_018896.5(CACNA1G):c.5021+15G>C	noncoding	Benign
17	50618969	C	A	C50618969A	CACNA1G	NM_018896.5(CACNA1G):c.5742C>A:p.His1914Gln	coding	Benign
17	50620120	A	G	A50620120G	CACNA1G	NM_018896.5(CACNA1G):c.5925+294A>G	noncoding	Benign
17	50621545	C	A	C50621545A	CACNA1G	NM_018896.5(CACNA1G):c.5926-115C>A	noncoding	Benign
17	50622103	G	A	G50622103A	CACNA1G	NM_018896.5(CACNA1G):c.6060+309G>A	noncoding	Benign
17	50623605	A	G	A50623605G	CACNA1G	NM_018896.5(CACNA1G):c.6061-302A>G	noncoding	Benign
17	50623923	C	T	C50623923T	CACNA1G	NM_018896.5(CACNA1G):c.6077C>T:p.Thr2026Met	coding	Benign
17	50624336	T	C	T50624336C	CACNA1G	NM_018896.5(CACNA1G):c.6230-24T>C	noncoding	Benign
17	50624428	C	T	C50624428T	CACNA1G	NM_018896.5(CACNA1G):c.6298C>T:p.Pro2100Ser	coding	Benign/Likely_benign
17	50624439	C	T	C50624439T	CACNA1G	NM_018896.5(CACNA1G):c.6309C>T:p.Leu2103=	coding	Benign
17	50624452	G	T	G50624452T	CACNA1G	NM_018896.5(CACNA1G):c.6322G>T:p.Ala2108Ser	coding	Benign
17	50624733	G	T	G50624733T	CACNA1G	NM_018896.5(CACNA1G):c.6399+204G>T	noncoding	Benign
17	50625811	A	C	A50625811C	CACNA1G	NM_018896.5(CACNA1G):c.6400-206A>C	noncoding	Benign
17	50626391	T	C	T50626391C	CACNA1G	NM_018896.5(CACNA1G):c.6774T>C:p.Pro2258=	coding	Benign
17	50626430	C	T	C50626430T	CACNA1G	NM_018896.5(CACNA1G):c.6813C>T:p.Ala2271=	coding	Benign
17	50626625	G	A	G50626625A	CACNA1G	NM_018896.5(CACNA1G):c.7008G>A:p.Pro2336=	coding	Benign
17	56593839	C	A	C56593839A	NOG	NM_005450.6(NOG):c.-385C>A	noncoding	Benign
17	56594151	G	A	G56594151A	NOG	NM_005450.6(NOG):c.-73G>A	noncoding	Benign
17	56594264	T	C	T56594264C	NOG	NM_005450.6(NOG):c.41T>C:p.Leu14Pro	coding	Pathogenic
17	56594293	C	T	C56594293T	NOG	NM_005450.6(NOG):c.70C>T:p.Pro24Ser	coding	Benign
17	56594474	C	A	C56594474A	NOG	NM_005450.6(NOG):c.251C>A:p.Pro84His	coding	Benign/Likely_benign
17	56594602	G	T	G56594602T	NOG	NM_005450.6(NOG):c.379G>T:p.Glu127Ter	coding	Pathogenic/Likely_pathogenic
17	56594732	C	T	C56594732T	NOG	NM_005450.6(NOG):c.509C>T:p.Pro170Leu	coding	Pathogenic
17	56834477	G	T	G56834477T	DGKE	NM_003647.3(DGKE):c.-19+217G>T	noncoding	Benign
17	56834568	G	A	G56834568A	DGKE	NM_003647.3(DGKE):c.-18-210G>A	noncoding	Benign
17	56834978	G	A	G56834978A	DGKE	NM_003647.3(DGKE):c.183G>A:p.Gly61=	coding	Benign
17	56835123	G	T	G56835123T	DGKE	NM_003647.3(DGKE):c.328G>T:p.Glu110Ter	coding	Pathogenic
17	56835222	C	T	C56835222T	DGKE	NM_003647.3(DGKE):c.427C>T:p.Gln143Ter	coding	Pathogenic
17	56835376	A	G	A56835376G	DGKE	NM_003647.3(DGKE):c.464+117A>G	noncoding	Benign
17	56843961	G	A	G56843961A	DGKE	NM_003647.3(DGKE):c.465-58G>A	noncoding	Benign
17	56844353	C	T	C56844353T	DGKE	NM_003647.3(DGKE):c.624+175C>T	noncoding	Benign
17	56845443	G	C	G56845443C	DGKE	NM_003647.3(DGKE):c.625-247G>C	noncoding	Benign
17	56847901	G	T	G56847901T	DGKE	NM_003647.3(DGKE):c.745-21G>T	noncoding	Benign
17	56847975	T	A	T56847975A	DGKE	NM_003647.3(DGKE):c.798T>A:p.Leu266=	coding	Benign
17	56848066	G	C	G56848066C	DGKE	NM_003647.3(DGKE):c.888+1G>C	coding	Pathogenic
17	56848977	C	T	C56848977T	DGKE	NM_003647.3(DGKE):c.1046+124C>T	noncoding	Benign
17	56849150	C	T	C56849150T	DGKE	NM_003647.3(DGKE):c.1047-31C>T	noncoding	Benign
17	56849464	G	A	G56849464A	DGKE	NM_003647.3(DGKE):c.1098+232G>A	noncoding	Benign
17	56856848	A	G	A56856848G	DGKE	NM_003647.3(DGKE):c.1212+223A>G	noncoding	Benign
17	56856955	G	A	G56856955A	DGKE	NM_003647.3(DGKE):c.1212+330G>A	noncoding	Benign
17	56858770	T	C	T56858770C	DGKE	NM_003647.3(DGKE):c.1284+105T>C	noncoding	Benign
17	56862354	T	C	T56862354C	DGKE	NM_003647.3(DGKE):c.1524+103T>C	noncoding	Benign
17	56862376	T	A	T56862376A	DGKE	NM_003647.3(DGKE):c.1524+125T>A	noncoding	Benign
17	56863020	A	G	A56863020G	DGKE	NM_003647.3(DGKE):c.*229A>G	noncoding	Benign
17	56863030	A	G	A56863030G	DGKE	NM_003647.3(DGKE):c.*239A>G	noncoding	Benign
17	56863070	G	A	G56863070A	DGKE	NM_003647.3(DGKE):c.*279G>A	noncoding	Benign
17	56950809	C	T	C56950809T	COIL	NM_004645.3(COIL):c.433G>A:p.Val145Ile	coding	Benign
17	57840938	G	A	G57840938A	MRPS23	NM_016070.4(MRPS23):c.408C>T:p.Gly136=	coding	Benign
17	57849228	C	G	C57849228G	MRPS23	NM_016070.4(MRPS23):c.215+12G>C	noncoding	Benign
17	57849279	G	T	G57849279T	MRPS23	NM_016070.4(MRPS23):c.176C>A:p.Pro59His	coding	Benign
17	58206520	G	A	G58206520A	MKS1	NM_017777.4(MKS1):c.1435C>T:p.Arg479Cys	coding	Benign/Likely_benign
17	58207191	C	T	C58207191T	MKS1	NM_017777.4(MKS1):c.1301G>A:p.Trp434Ter	coding	Pathogenic
17	58207215	G	C	G58207215C	MKS1	NM_017777.4(MKS1):c.1277C>G:p.Ser426Ter	coding	Pathogenic
17	58208114	C	A	C58208114A	MKS1	NM_017777.4(MKS1):c.1156G>T:p.Glu386Ter	coding	Pathogenic
17	58208577	G	C	G58208577C	MKS1	NM_017777.4(MKS1):c.1031C>G:p.Ser344Ter	coding	Pathogenic
17	58210440	G	A	G58210440A	MKS1	NM_017777.4(MKS1):c.1024+219C>T	noncoding	Benign
17	58210646	G	C	G58210646C	MKS1	NM_017777.4(MKS1):c.1024+13C>G	noncoding	Benign
17	58212590	C	G	C58212590G	MKS1	NM_017777.4(MKS1):c.859-156G>C	noncoding	Benign
17	58212892	C	T	C58212892T	MKS1	NM_017777.4(MKS1):c.858+90G>A	noncoding	Benign
17	58213752	T	C	T58213752C	MKS1	NM_017777.4(MKS1):c.749+13A>G	noncoding	Benign/Likely_benign
17	58213856	T	A	T58213856A	MKS1	NM_017777.4(MKS1):c.658A>T:p.Lys220Ter	coding	Pathogenic/Likely_pathogenic
17	58214264	A	T	A58214264T	MKS1	NM_017777.4(MKS1):c.639T>A:p.Tyr213Ter	coding	Pathogenic
17	58214739	A	G	A58214739G	MKS1	NM_017777.4(MKS1):c.515+2T>C	noncoding	Pathogenic
17	58214787	C	A	C58214787A	MKS1	NM_017777.4(MKS1):c.469G>T:p.Glu157Ter	coding	Pathogenic
17	58216087	C	A	C58216087A	MKS1	NM_017777.4(MKS1):c.417+1G>T	noncoding	Pathogenic
17	58216737	C	T	C58216737T	MKS1	NM_017777.4(MKS1):c.191-1G>A	coding	Pathogenic
17	58218649	A	T	A58218649T	MKS1	NM_017777.4(MKS1):c.161T>A:p.Leu54Ter	coding	Pathogenic
17	58218674	C	A	C58218674A	MKS1	NM_017777.4(MKS1):c.136G>T:p.Glu46Ter	coding	Pathogenic
17	58218769	A	C	A58218769C	MKS1	NM_017777.4(MKS1):c.81-40T>G	noncoding	Benign
17	58219197	C	A	C58219197A	MKS1	NM_017777.4(MKS1):c.34G>T:p.Glu12Ter	coding	Pathogenic
17	58272757	C	T	C58272757T	MPO	NM_000250.2(MPO):c.1783G>A:p.Gly595Ser	coding	Pathogenic
17	58279172	G	A	G58279172A	MPO	NM_000250.2(MPO):c.721C>T:p.Gln241Ter	coding	Pathogenic
17	58279860	G	A	G58279860A	MPO	NM_000250.2(MPO):c.403C>T:p.Arg135Ter	coding	Pathogenic
17	58308997	T	A	T58308997A	TSPOAP1	NM_004758.4(TSPOAP1):c.4275A>T:p.Arg1425=	coding	Benign
17	58355015	G	A	G58355015A	RNF43	NM_017763.6(RNF43):c.2309-29C>T	noncoding	Benign
17	58357496	C	T	C58357496T	RNF43	NM_017763.6(RNF43):c.2280G>A:p.Pro760=	coding	Benign/Likely_benign
17	58357508	T	C	T58357508C	RNF43	NM_017763.6(RNF43):c.2268A>G:p.Pro756=	coding	Benign
17	58357515	C	G	C58357515G	RNF43	NM_017763.6(RNF43):c.2261G>C:p.Gly754Ala	coding	Benign
17	58357685	G	A	G58357685A	RNF43	NM_017763.6(RNF43):c.2091C>T:p.His697=	coding	Benign
17	58357719	G	C	G58357719C	RNF43	NM_017763.6(RNF43):c.2057C>G:p.Pro686Arg	coding	Benign
17	58357806	C	G	C58357806G	RNF43	NM_017763.6(RNF43):c.1970G>C:p.Arg657Pro	coding	Benign
17	58357892	G	A	G58357892A	RNF43	NM_017763.6(RNF43):c.1884C>T:p.Asp628=	coding	Benign
17	58357955	C	T	C58357955T	RNF43	NM_017763.6(RNF43):c.1821G>A:p.Ser607=	coding	Benign
17	58358191	G	A	G58358191A	RNF43	NM_017763.6(RNF43):c.1585C>T:p.Arg529Trp	coding	Benign/Likely_benign
17	58358474	G	A	G58358474A	RNF43	NM_017763.6(RNF43):c.1302C>T:p.Pro434=	coding	Benign
17	58358645	T	A	T58358645A	RNF43	NM_017763.6(RNF43):c.1131A>T:p.Pro377=	coding	Benign
17	58358683	C	T	C58358683T	RNF43	NM_017763.6(RNF43):c.1093G>A:p.Ala365Thr	coding	Benign
17	58358748	C	T	C58358748T	RNF43	NM_017763.6(RNF43):c.1028G>A:p.Arg343His	coding	Benign
17	58358769	C	T	C58358769T	RNF43	NM_017763.6(RNF43):c.1007G>A:p.Gly336Asp	coding	Benign
17	58360681	T	G	T58360681G	RNF43	NM_017763.6(RNF43):c.849+102A>C	noncoding	Benign
17	58360816	A	G	A58360816G	RNF43	NM_017763.6(RNF43):c.816T>C:p.Cys272=	coding	Benign
17	58360840	G	A	G58360840A	RNF43	NM_017763.6(RNF43):c.792C>T:p.Ser264=	coding	Benign
17	58360940	G	A	G58360940A	RNF43	NM_017763.6(RNF43):c.692C>T:p.Pro231Leu	coding	Benign
17	58362569	C	T	C58362569T	RNF43	NM_017763.6(RNF43):c.662G>A:p.Arg221Gln	coding	Benign
17	58362634	C	T	C58362634T	RNF43	NM_017763.6(RNF43):c.597G>A:p.Val199=	coding	Benign
17	58362660	G	A	G58362660A	RNF43	NM_017763.6(RNF43):c.583-12C>T	noncoding	Benign
17	58363165	G	A	G58363165A	RNF43	NM_017763.6(RNF43):c.582+110C>T	noncoding	Benign
17	58363181	G	T	G58363181T	RNF43	NM_017763.6(RNF43):c.582+94C>A	noncoding	Benign
17	58363245	G	A	G58363245A	RNF43	NM_017763.6(RNF43):c.582+30C>T	noncoding	Benign
17	58363281	C	T	C58363281T	RNF43	NM_017763.6(RNF43):c.576G>A:p.Pro192=	coding	Benign/Likely_benign
17	58363282	G	A	G58363282A	RNF43	NM_017763.6(RNF43):c.575C>T:p.Pro192Leu	coding	Benign
17	58363596	C	T	C58363596T	RNF43	NM_017763.6(RNF43):c.380G>A:p.Arg127Gln	coding	Benign
17	58370691	A	G	A58370691G	RNF43	NM_017763.6(RNF43):c.375+220T>C	noncoding	Benign
17	58370894	G	A	G58370894A	RNF43	NM_017763.6(RNF43):c.375+17C>T	noncoding	Benign
17	58370936	C	T	C58370936T	RNF43	NM_017763.6(RNF43):c.350G>A:p.Arg117His	coding	Benign
17	58371022	C	T	C58371022T	RNF43	NM_017763.6(RNF43):c.264G>A:p.Leu88=	coding	Benign
17	58416013	A	T	A58416013T	RNF43	NM_017763.6(RNF43):c.-385-51T>A	noncoding	Benign
17	58572089	G	T	G58572089T	TEX14	NM_031272.5(TEX14):c.3549C>A:p.Cys1183Ter	coding	Pathogenic
17	58584503	G	T	G58584503T	TEX14	NM_031272.5(TEX14):c.3168C>A:p.Tyr1056Ter	coding	Pathogenic
17	58585927	G	A	G58585927A	TEX14	NM_031272.5(TEX14):c.2944C>T:p.Gln982Ter	coding	Pathogenic
17	58692526	G	A	G58692526A	RAD51C	Single_allele	noncoding	Benign
17	58692603	T	C	T58692603C	RAD51C	NM_058216.3(RAD51C):c.-41T>C	noncoding	Benign
17	58692618	C	T	C58692618T	RAD51C	NM_058216.3(RAD51C):c.-26C>T	noncoding	Benign/Likely_benign
17	58692631	A	G	A58692631G	RAD51C	NM_058216.3(RAD51C):c.-13A>G	noncoding	Benign/Likely_benign
17	58692790	T	G	T58692790G	RAD51C	NM_058216.3(RAD51C):c.145+2T>G	noncoding	Pathogenic/Likely_pathogenic
17	58694945	A	T	A58694945T	RAD51C	NM_058216.3(RAD51C):c.160A>T:p.Lys54Ter	coding	Pathogenic
17	58695050	G	T	G58695050T	RAD51C	NM_058216.3(RAD51C):c.265G>T:p.Glu89Ter	coding	Pathogenic
17	58695121	G	A	G58695121A	RAD51C	NM_058216.3(RAD51C):c.336G>A:p.Gly112=	coding	Benign/Likely_benign
17	58695186	T	G	T58695186G	RAD51C	NM_058216.3(RAD51C):c.401T>G:p.Leu134Ter	coding	Pathogenic
17	58695189	G	A	G58695189A	RAD51C	NM_058216.3(RAD51C):c.404G>A:p.Cys135Tyr	coding	Pathogenic/Likely_pathogenic
17	58695189	G	C	G58695189C	RAD51C	NM_058216.3(RAD51C):c.404G>C:p.Cys135Ser	coding	Pathogenic/Likely_pathogenic
17	58695189	G	T	G58695189T	RAD51C	NM_058216.3(RAD51C):c.404G>T:p.Cys135Phe	coding	Pathogenic/Likely_pathogenic
17	58696473	T	C	T58696473C	RAD51C	NM_058216.3(RAD51C):c.405-220T>C	noncoding	Benign
17	58696644	C	T	C58696644T	RAD51C	NM_058216.3(RAD51C):c.405-49C>T	noncoding	Benign
17	58696702	G	C	G58696702C	RAD51C	NM_058216.3(RAD51C):c.414G>C:p.Leu138Phe	coding	Pathogenic/Likely_pathogenic
17	58696715	C	T	C58696715T	RAD51C	NM_058216.3(RAD51C):c.427C>T:p.Gln143Ter	coding	Pathogenic
17	58696844	A	T	A58696844T	RAD51C	NM_058216.3(RAD51C):c.556A>T:p.Lys186Ter	coding	Pathogenic
17	58703098	C	G	C58703098G	RAD51C	NM_058216.3(RAD51C):c.572-98C>G	noncoding	Benign
17	58703180	T	C	T58703180C	RAD51C	NM_058216.3(RAD51C):c.572-16T>C	noncoding	Benign/Likely_benign
17	58703280	T	A	T58703280A	RAD51C	NM_058216.3(RAD51C):c.656T>A:p.Leu219Ter	coding	Pathogenic
17	58703288	C	T	C58703288T	RAD51C	NM_058216.3(RAD51C):c.664C>T:p.Gln222Ter	coding	Pathogenic
17	58709938	T	A	T58709938A	RAD51C	NM_058216.3(RAD51C):c.785T>A:p.Leu262Ter	coding	Pathogenic
17	58709952	C	T	C58709952T	RAD51C	NM_058216.3(RAD51C):c.799C>T:p.Gln267Ter	coding	Pathogenic
17	58720761	C	T	C58720761T	RAD51C	NM_058216.3(RAD51C):c.853C>T:p.Gln285Ter	coding	Pathogenic/Likely_pathogenic
17	58720846	T	C	T58720846C	RAD51C	NM_058216.3(RAD51C):c.904+34T>C	noncoding	Benign
17	58724021	T	C	T58724021C	RAD51C	NM_058216.3(RAD51C):c.905-19T>C	noncoding	Benign/Likely_benign
17	58724039	G	A	G58724039A	RAD51C	NM_058216.3(RAD51C):c.905-1G>A	noncoding	Pathogenic
17	58724042	G	T	G58724042T	RAD51C	NM_058216.3(RAD51C):c.907G>T:p.Glu303Ter	coding	Pathogenic
17	58724050	G	A	G58724050A	RAD51C	NM_058216.3(RAD51C):c.915G>A:p.Trp305Ter	coding	Pathogenic
17	58724096	C	T	C58724096T	RAD51C	NM_058216.3(RAD51C):c.961C>T:p.Gln321Ter	coding	Pathogenic
17	58732499	C	A	C58732499A	RAD51C	NM_058216.3(RAD51C):c.981C>A:p.Tyr327Ter	coding	Pathogenic
17	58732557	T	C	T58732557C	RAD51C	NM_058216.3(RAD51C):c.1026+13T>C	noncoding	Benign/Likely_benign
17	58734153	A	G	A58734153G	RAD51C	NM_058216.3(RAD51C):c.1062A>G:p.Ala354=	coding	Benign/Likely_benign
17	58734247	C	G	C58734247G	RAD51C	NM_058216.3(RAD51C):c.*25C>G	noncoding	Benign/Likely_benign
17	58999532	T	A	T58999532A	TRIM37	NM_015294.6(TRIM37):c.2813-73A>T	noncoding	Benign
17	59012210	T	C	T59012210C	TRIM37	NM_015294.6(TRIM37):c.2695+118A>G	noncoding	Benign
17	59017256	T	C	T59017256C	TRIM37	NM_015294.6(TRIM37):c.2386+40A>G	noncoding	Benign
17	59028735	T	C	T59028735C	TRIM37	NM_015294.6(TRIM37):c.1949-12A>G	noncoding	Pathogenic
17	59032093	G	A	G59032093A	TRIM37	NM_015294.6(TRIM37):c.1754-3C>T	noncoding	Benign/Likely_benign
17	59051285	G	A	G59051285A	TRIM37	NM_015294.6(TRIM37):c.1243C>T:p.Gln415Ter	coding	Pathogenic
17	59056763	G	T	G59056763T	TRIM37	NM_015294.6(TRIM37):c.1199+112C>A	noncoding	Benign
17	59062940	A	G	A59062940G	TRIM37	NM_015294.6(TRIM37):c.861-292T>C	noncoding	Benign
17	59062943	A	T	A59062943T	TRIM37	NM_015294.6(TRIM37):c.861-295T>A	noncoding	Benign
17	59064406	C	T	C59064406T	TRIM37	NM_015294.6(TRIM37):c.810-1G>A	coding	Pathogenic/Likely_pathogenic
17	59075559	A	G	A59075559G	TRIM37	NM_015294.6(TRIM37):c.684+88T>C	noncoding	Benign
17	59079879	T	C	T59079879C	TRIM37	NM_015294.6(TRIM37):c.493-2A>G	noncoding	Pathogenic
17	59080984	T	C	T59080984C	TRIM37	NM_015294.6(TRIM37):c.492+113A>G	noncoding	Benign
17	59081403	C	T	C59081403T	TRIM37	NM_015294.6(TRIM37):c.370-184G>A	noncoding	Benign
17	59081479	G	A	G59081479A	TRIM37	NM_015294.6(TRIM37):c.370-260C>T	noncoding	Benign
17	59091510	C	T	C59091510T	TRIM37	NM_015294.6(TRIM37):c.124-170G>A	noncoding	Benign
17	59104144	G	A	G59104144A	TRIM37	NM_015294.6(TRIM37):c.123+149C>T	noncoding	Benign
17	59104163	C	T	C59104163T	TRIM37	NM_015294.6(TRIM37):c.123+130G>A	noncoding	Benign
17	59210674	A	G	A59210674G	SMG8	NM_018149.7(SMG8):c.623A>G:p.His208Arg	coding	Pathogenic
17	59213338	C	T	C59213338T	SMG8	NM_018149.7(SMG8):c.2515C>T:p.Arg839Ter	coding	Pathogenic
17	59620149	A	C	A59620149C	CLTC	NM_004859.4(CLTC):c.18A>C:p.Pro6=	coding	Benign/Likely_benign
17	59644259	C	A	C59644259A	CLTC	NM_004859.4(CLTC):c.43-17C>A	noncoding	Benign
17	59644320	C	T	C59644320T	CLTC	NM_004859.4(CLTC):c.87C>T:p.Thr29=	coding	Benign
17	59644330	G	T	G59644330T	CLTC	NM_004859.4(CLTC):c.97G>T:p.Glu33Ter	coding	Pathogenic
17	59647682	T	G	T59647682G	CLTC	NM_004859.4(CLTC):c.519+16T>G	noncoding	Benign
17	59648329	G	A	G59648329A	CLTC	NM_004859.4(CLTC):c.609G>A:p.Gln203=	coding	Benign/Likely_benign
17	59651334	A	C	A59651334C	CLTC	NM_004859.4(CLTC):c.795+18A>C	noncoding	Benign
17	59655892	G	A	G59655892A	CLTC	NM_004859.4(CLTC):c.834G>A:p.Lys278=	coding	Benign
17	59660450	A	G	A59660450G	CLTC	NM_004859.4(CLTC):c.1029A>G:p.Gln343=	coding	Benign
17	59660468	G	C	G59660468C	CLTC	NM_004859.4(CLTC):c.1047G>C:p.Leu349=	coding	Benign
17	59661646	A	T	A59661646T	CLTC	NM_004859.4(CLTC):c.1368+3A>T	noncoding	Benign
17	59663886	C	T	C59663886T	CLTC	NM_004859.4(CLTC):c.1413C>T:p.Asp471=	coding	Benign
17	59664771	C	T	C59664771T	CLTC	NM_004859.4(CLTC):c.1522-16C>T	noncoding	Benign
17	59664779	G	C	G59664779C	CLTC	NM_004859.4(CLTC):c.1522-8G>C	noncoding	Benign
17	59664804	T	C	T59664804C	CLTC	NM_004859.4(CLTC):c.1539T>C:p.Asp513=	coding	Benign
17	59666162	T	C	T59666162C	CLTC	NM_004859.4(CLTC):c.1704T>C:p.Asp568=	coding	Benign
17	59666174	T	C	T59666174C	CLTC	NM_004859.4(CLTC):c.1716T>C:p.Asn572=	coding	Benign
17	59666872	A	G	A59666872G	CLTC	NM_004859.4(CLTC):c.2023A>G:p.Ile675Val	coding	Pathogenic
17	59673621	T	C	T59673621C	CLTC	NM_004859.4(CLTC):c.2293-26T>C	noncoding	Benign
17	59677020	C	T	C59677020T	CLTC	NM_004859.4(CLTC):c.2628C>T:p.His876=	coding	Benign
17	59677167	A	G	A59677167G	CLTC	NM_004859.4(CLTC):c.2775A>G:p.Gln925=	coding	Benign
17	59679465	G	A	G59679465A	CLTC	NM_004859.4(CLTC):c.2865G>A:p.Leu955=	coding	Benign
17	59681307	C	T	C59681307T	CLTC	NM_004859.4(CLTC):c.3078C>T:p.Asn1026=	coding	Benign
17	59681658	G	A	G59681658A	CLTC	NM_004859.4(CLTC):c.3261G>A:p.Glu1087=	coding	Benign
17	59681845	A	G	A59681845G	CLTC	NM_004859.4(CLTC):c.3442+6A>G	noncoding	Benign
17	59682298	T	A	T59682298A	CLTC	NM_004859.4(CLTC):c.3470T>A:p.Leu1157Ter	coding	Pathogenic
17	59682620	T	G	T59682620G	CLTC	NM_004859.4(CLTC):c.3601-9T>G	noncoding	Benign
17	59682794	G	A	G59682794A	CLTC	NM_004859.4(CLTC):c.3765+1G>A	coding	Pathogenic
17	59683018	T	C	T59683018C	CLTC	NM_004859.4(CLTC):c.3873+4T>C	noncoding	Benign
17	59683089	G	A	G59683089A	CLTC	NM_004859.4(CLTC):c.3874-6G>A	noncoding	Benign
17	59685223	C	G	C59685223G	CLTC	NM_004859.4(CLTC):c.4602C>G:p.Tyr1534Ter	coding	Pathogenic
17	59685653	T	C	T59685653C	CLTC	NM_004859.4(CLTC):c.4672T>C:p.Leu1558=	coding	Benign
17	59685720	A	G	A59685720G	CLTC	NM_004859.4(CLTC):c.4739A>G:p.Asp1580Gly	coding	Pathogenic
17	59707607	G	T	G59707607T	PTRH2	Single_allele	noncoding	Benign
17	60150110	G	C	G60150110C	CA4	NM_000717.5(CA4):c.58+18G>C	noncoding	Benign
17	60156672	C	T	C60156672T	CA4	NM_000717.5(CA4):c.225C>T:p.Tyr75=	coding	Benign
17	60157710	A	G	A60157710G	CA4	NM_000717.5(CA4):c.435A>G:p.Lys145=	coding	Benign/Likely_benign
17	60158464	C	T	C60158464T	CA4	NM_000717.5(CA4):c.744+18C>T	noncoding	Benign
17	60599897	G	C	G60599897C	PPM1D	Single_allele	noncoding	Benign
17	60600041	C	G	C60600041G	PPM1D	Single_allele	noncoding	Benign
17	60600219	T	C	T60600219C	PPM1D	NM_003620.4(PPM1D):c.-196T>C	noncoding	Benign
17	60600504	G	A	G60600504A	PPM1D	NM_003620.4(PPM1D):c.90G>A:p.Glu30=	coding	Benign
17	60601228	G	C	G60601228C	PPM1D	NM_003620.4(PPM1D):c.472+342G>C	noncoding	Benign
17	60623831	G	C	G60623831C	PPM1D	NM_003620.4(PPM1D):c.701+82G>C	noncoding	Benign
17	60633574	G	T	G60633574T	PPM1D	NM_003620.4(PPM1D):c.702-279G>T	noncoding	Benign
17	60633716	C	T	C60633716T	PPM1D	NM_003620.4(PPM1D):c.702-137C>T	noncoding	Benign
17	60647880	C	A	C60647880A	PPM1D	NM_003620.4(PPM1D):c.827-12C>A	noncoding	Benign
17	60648355	G	T	G60648355T	PPM1D	NM_003620.4(PPM1D):c.1017+273G>T	noncoding	Benign
17	60656484	A	T	A60656484T	PPM1D	NM_003620.4(PPM1D):c.1018-115A>T	noncoding	Benign
17	60662716	G	C	G60662716C	PPM1D	NM_003620.4(PPM1D):c.1261-279G>C	noncoding	Benign
17	60662996	C	A	C60662996A	PPM1D	NM_003620.4(PPM1D):c.1262C>A:p.Ser421Ter	coding	Benign
17	60663001	G	T	G60663001T	PPM1D	NM_003620.4(PPM1D):c.1267G>T:p.Glu423Ter	coding	Pathogenic/Likely_pathogenic
17	60663014	G	A	G60663014A	PPM1D	NM_003620.4(PPM1D):c.1280G>A:p.Trp427Ter	coding	Pathogenic
17	60663168	C	T	C60663168T	PPM1D	NM_003620.4(PPM1D):c.1434C>T:p.Cys478=	coding	Benign
17	60663388	C	T	C60663388T	PPM1D	NM_003620.4(PPM1D):c.1654C>T:p.Arg552Ter	coding	Pathogenic/Likely_pathogenic
17	60679530	C	T	C60679530T	BCAS3	NM_017679.5(BCAS3):c.73C>T:p.Gln25Ter	coding	Pathogenic/Likely_pathogenic
17	60889759	T	G	T60889759G	BCAS3	NM_017679.5(BCAS3):c.726T>G:p.Tyr242Ter	coding	Pathogenic/Likely_pathogenic
17	60990206	C	G	C60990206G	BCAS3	NM_017679.5(BCAS3):c.1457C>G:p.Ser486Ter	coding	Pathogenic/Likely_pathogenic
17	61034683	C	T	C61034683T	BCAS3	NM_017679.5(BCAS3):c.1655C>T:p.Pro552Leu	coding	Pathogenic/Likely_pathogenic
17	61034712	G	A	G61034712A	BCAS3	NM_017679.5(BCAS3):c.1684G>A:p.Gly562Arg	coding	Pathogenic/Likely_pathogenic
17	61038032	C	T	C61038032T	BCAS3	NM_017679.5(BCAS3):c.1906C>T:p.Arg636Ter	coding	Pathogenic
17	61400542	C	A	C61400542A	TBX2	NM_005994.4(TBX2):c.366C>A:p.Gly122=	coding	Benign
17	61404808	C	G	C61404808G	TBX2	NM_005994.4(TBX2):c.1051+39C>G	noncoding	Benign
17	61404812	G	A	G61404812A	TBX2	NM_005994.4(TBX2):c.1051+43G>A	noncoding	Benign
17	61405310	C	T	C61405310T	TBX2	NM_005994.4(TBX2):c.1160C>T:p.Pro387Leu	coding	Benign
17	61408032	C	T	C61408032T	TBX2	NM_005994.4(TBX2):c.1687-22C>T	noncoding	Benign
17	61408194	C	T	C61408194T	TBX2	NM_005994.4(TBX2):c.1827C>T:p.Ser609=	coding	Benign
17	61408724	G	T	G61408724T	TBX2	NM_005994.4(TBX2):c.*218G>T	noncoding	Benign
17	61456692	C	T	C61456692T	TBX4	NM_001321120.2(TBX4):c.186+16C>T	noncoding	Benign
17	61465729	T	C	T61465729C	TBX4	NM_001321120.2(TBX4):c.282-90T>C	noncoding	Benign
17	61465916	T	A	T61465916A	TBX4	NM_001321120.2(TBX4):c.379T>A:p.Tyr127Asn	coding	Pathogenic
17	61466153	G	C	G61466153C	TBX4	NM_001321120.2(TBX4):c.401+215G>C	noncoding	Benign
17	61466161	G	A	G61466161A	TBX4	NM_001321120.2(TBX4):c.401+223G>A	noncoding	Benign
17	61467355	C	T	C61467355T	TBX4	NM_001321120.2(TBX4):c.402-155C>T	noncoding	Benign
17	61467414	C	T	C61467414T	TBX4	NM_001321120.2(TBX4):c.402-96C>T	noncoding	Benign
17	61467449	G	A	G61467449A	TBX4	NM_001321120.2(TBX4):c.402-61G>A	noncoding	Benign
17	61478926	C	T	C61478926T	TBX4	NM_001321120.2(TBX4):c.702+147C>T	noncoding	Benign
17	61478980	C	T	C61478980T	TBX4	NM_001321120.2(TBX4):c.702+201C>T	noncoding	Benign
17	61479926	C	T	C61479926T	TBX4	NM_001321120.2(TBX4):c.748C>T:p.Arg250Trp	coding	Pathogenic
17	61479959	C	T	C61479959T	TBX4	NM_001321120.2(TBX4):c.781C>T:p.Arg261Ter	coding	Pathogenic
17	61480072	T	C	T61480072C	TBX4	NM_001321120.2(TBX4):c.792-18T>C	noncoding	Benign
17	61480283	G	T	G61480283T	TBX4	NM_001321120.2(TBX4):c.985G>T:p.Asp329Tyr	coding	Pathogenic
17	61480320	G	A	G61480320A	TBX4	NM_001321120.2(TBX4):c.1021+1G>A	coding	Pathogenic/Likely_pathogenic
17	61480531	C	G	C61480531G	TBX4	NM_001321120.2(TBX4):c.1021+212C>G	noncoding	Benign
17	61683710	A	G	A61683710G	BRIP1	NM_032043.3(BRIP1):c.3336T>C:p.Asp1112=	coding	Benign/Likely_benign
17	61684345	A	G	A61684345G	BRIP1	NM_032043.3(BRIP1):c.2906-205T>C	noncoding	Benign
17	61685753	A	T	A61685753T	BRIP1	NM_032043.3(BRIP1):c.2905+83T>A	noncoding	Benign
17	61685874	G	C	G61685874C	BRIP1	NM_032043.3(BRIP1):c.2867C>G:p.Ser956Ter	coding	Pathogenic/Likely_pathogenic
17	61685902	G	A	G61685902A	BRIP1	NM_032043.3(BRIP1):c.2839C>T:p.Gln947Ter	coding	Pathogenic/Likely_pathogenic
17	61685908	C	A	C61685908A	BRIP1	NM_032043.3(BRIP1):c.2833G>T:p.Glu945Ter	coding	Pathogenic/Likely_pathogenic
17	61685911	G	A	G61685911A	BRIP1	NM_032043.3(BRIP1):c.2830C>T:p.Gln944Ter	coding	Pathogenic/Likely_pathogenic
17	61685929	C	A	C61685929A	BRIP1	NM_032043.3(BRIP1):c.2812G>T:p.Glu938Ter	coding	Pathogenic
17	61685952	G	T	G61685952T	BRIP1	NM_032043.3(BRIP1):c.2789C>A:p.Ser930Ter	coding	Pathogenic
17	61685993	G	A	G61685993A	BRIP1	NM_032043.3(BRIP1):c.2748C>T:p.Tyr916=	coding	Benign/Likely_benign
17	61686025	C	A	C61686025A	BRIP1	NM_032043.3(BRIP1):c.2716G>T:p.Glu906Ter	coding	Pathogenic
17	61686098	C	T	C61686098T	BRIP1	NM_032043.3(BRIP1):c.2643G>A:p.Leu881=	coding	Benign/Likely_benign
17	61693437	A	T	A61693437T	BRIP1	NM_032043.3(BRIP1):c.2568T>A:p.Tyr856Ter	coding	Pathogenic
17	61715871	T	C	T61715871C	BRIP1	NM_032043.3(BRIP1):c.2492+80A>G	noncoding	Benign
17	61716000	G	A	G61716000A	BRIP1	NM_032043.3(BRIP1):c.2443C>T:p.Gln815Ter	coding	Pathogenic
17	61743077	G	T	G61743077T	BRIP1	NM_032043.3(BRIP1):c.2315C>A:p.Ser772Ter	coding	Pathogenic
17	61743135	C	T	C61743135T	BRIP1	NM_032043.3(BRIP1):c.2258-1G>A	coding	Pathogenic/Likely_pathogenic
17	61744463	G	C	G61744463C	BRIP1	NM_032043.3(BRIP1):c.2226C>G:p.Tyr742Ter	coding	Pathogenic
17	61744507	G	A	G61744507A	BRIP1	NM_032043.3(BRIP1):c.2182C>T:p.Gln728Ter	coding	Pathogenic/Likely_pathogenic
17	61744585	C	A	C61744585A	BRIP1	NM_032043.3(BRIP1):c.2104G>T:p.Glu702Ter	coding	Pathogenic
17	61744613	A	G	A61744613G	BRIP1	NM_032043.3(BRIP1):c.2098-22T>C	noncoding	Benign/Likely_benign
17	61744675	G	A	G61744675A	BRIP1	NM_032043.3(BRIP1):c.2098-84C>T	noncoding	Benign
17	61776399	A	T	A61776399T	BRIP1	NM_032043.3(BRIP1):c.2097+2T>A	noncoding	Pathogenic/Likely_pathogenic
17	61776404	G	C	G61776404C	BRIP1	NM_032043.3(BRIP1):c.2094C>G:p.Tyr698Ter	coding	Pathogenic
17	61776481	G	A	G61776481A	BRIP1	NM_032043.3(BRIP1):c.2017C>T:p.Gln673Ter	coding	Pathogenic
17	61776496	C	A	C61776496A	BRIP1	NM_032043.3(BRIP1):c.2002G>T:p.Glu668Ter	coding	Pathogenic
17	61776540	G	C	G61776540C	BRIP1	NM_032043.3(BRIP1):c.1958C>G:p.Ser653Ter	coding	Pathogenic
17	61776563	C	T	C61776563T	BRIP1	NM_032043.3(BRIP1):c.1936-1G>A	coding	Pathogenic/Likely_pathogenic
17	61776606	G	T	G61776606T	BRIP1	NM_032043.3(BRIP1):c.1936-44C>A	noncoding	Benign/Likely_benign
17	61780250	C	T	C61780250T	BRIP1	NM_032043.3(BRIP1):c.1935+11G>A	noncoding	Benign/Likely_benign
17	61780265	G	T	G61780265T	BRIP1	NM_032043.3(BRIP1):c.1931C>A:p.Ser644Ter	coding	Pathogenic
17	61780343	G	C	G61780343C	BRIP1	NM_032043.3(BRIP1):c.1853C>G:p.Ser618Ter	coding	Pathogenic
17	61780890	G	A	G61780890A	BRIP1	NM_032043.3(BRIP1):c.1744C>T:p.Gln582Ter	coding	Pathogenic
17	61780925	A	T	A61780925T	BRIP1	NM_032043.3(BRIP1):c.1709T>A:p.Leu570Ter	coding	Pathogenic
17	61780935	T	A	T61780935A	BRIP1	NM_032043.3(BRIP1):c.1699A>T:p.Lys567Ter	coding	Pathogenic
17	61780960	C	T	C61780960T	BRIP1	NM_032043.3(BRIP1):c.1674G>A:p.Trp558Ter	coding	Pathogenic
17	61781006	C	T	C61781006T	BRIP1	NM_032043.3(BRIP1):c.1629-1G>A	coding	Pathogenic
17	61793615	A	G	A61793615G	BRIP1	NM_032043.3(BRIP1):c.1455T>C:p.Ala485=	coding	Benign/Likely_benign
17	61793667	C	T	C61793667T	BRIP1	NM_032043.3(BRIP1):c.1403G>A:p.Trp468Ter	coding	Pathogenic/Likely_pathogenic
17	61793710	C	A	C61793710A	BRIP1	NM_032043.3(BRIP1):c.1360G>T:p.Glu454Ter	coding	Pathogenic/Likely_pathogenic
17	61793726	C	T	C61793726T	BRIP1	NM_032043.3(BRIP1):c.1344G>A:p.Trp448Ter	coding	Pathogenic
17	61798991	C	T	C61798991T	BRIP1	NM_032043.3(BRIP1):c.1340+109G>A	noncoding	Benign
17	61799114	G	T	G61799114T	BRIP1	NM_032043.3(BRIP1):c.1326C>A:p.Cys442Ter	coding	Pathogenic
17	61799230	C	A	C61799230A	BRIP1	NM_032043.3(BRIP1):c.1210G>T:p.Glu404Ter	coding	Pathogenic
17	61799284	T	A	T61799284A	BRIP1	NM_032043.3(BRIP1):c.1156A>T:p.Lys386Ter	coding	Pathogenic/Likely_pathogenic
17	61799536	G	A	G61799536A	BRIP1	NM_032043.3(BRIP1):c.1141-237C>T	noncoding	Benign
17	61801055	G	C	G61801055C	BRIP1	NM_032043.3(BRIP1):c.1140+198C>G	noncoding	Benign
17	61801280	A	T	A61801280T	BRIP1	NM_032043.3(BRIP1):c.1113T>A:p.Tyr371Ter	coding	Pathogenic
17	61801286	G	C	G61801286C	BRIP1	NM_032043.3(BRIP1):c.1107C>G:p.Tyr369Ter	coding	Pathogenic
17	61801286	G	T	G61801286T	BRIP1	NM_032043.3(BRIP1):c.1107C>A:p.Tyr369Ter	coding	Pathogenic
17	61801304	G	A	G61801304A	BRIP1	NM_032043.3(BRIP1):c.1089C>T:p.Asp363=	coding	Benign/Likely_benign
17	61801315	G	A	G61801315A	BRIP1	NM_032043.3(BRIP1):c.1078C>T:p.Gln360Ter	coding	Pathogenic
17	61801322	T	C	T61801322C	BRIP1	NM_032043.3(BRIP1):c.1071A>G:p.Glu357=	coding	Benign/Likely_benign
17	61801378	C	A	C61801378A	BRIP1	NM_032043.3(BRIP1):c.1015G>T:p.Glu339Ter	coding	Pathogenic
17	61801429	G	A	G61801429A	BRIP1	NM_032043.3(BRIP1):c.964C>T:p.Gln322Ter	coding	Pathogenic
17	61801469	T	C	T61801469C	BRIP1	NM_032043.3(BRIP1):c.924A>G:p.Lys308=	coding	Benign/Likely_benign
17	61808949	T	C	T61808949C	BRIP1	NM_032043.3(BRIP1):c.628-192A>G	noncoding	Benign
17	61847099	A	G	A61847099G	BRIP1	NM_032043.3(BRIP1):c.627+2T>C	noncoding	Pathogenic
17	61847162	G	C	G61847162C	BRIP1	NM_032043.3(BRIP1):c.566C>G:p.Ser189Ter	coding	Pathogenic/Likely_pathogenic
17	61847228	C	T	C61847228T	BRIP1	NM_032043.3(BRIP1):c.508-8G>A	noncoding	Benign/Likely_benign
17	61847501	T	C	T61847501C	BRIP1	NM_032043.3(BRIP1):c.508-281A>G	noncoding	Benign
17	61849062	A	G	A61849062G	BRIP1	NM_032043.3(BRIP1):c.507+67T>C	noncoding	Benign
17	61849284	C	T	C61849284T	BRIP1	NM_032043.3(BRIP1):c.380-28G>A	noncoding	Benign/Likely_benign
17	61857107	A	C	A61857107C	BRIP1	NM_032043.3(BRIP1):c.330T>G:p.Tyr110Ter	coding	Pathogenic
17	61857133	G	A	G61857133A	BRIP1	NM_032043.3(BRIP1):c.304C>T:p.Gln102Ter	coding	Pathogenic
17	61857179	A	T	A61857179T	BRIP1	NM_032043.3(BRIP1):c.258T>A:p.Cys86Ter	coding	Pathogenic
17	61857183	G	C	G61857183C	BRIP1	NM_032043.3(BRIP1):c.254C>G:p.Ser85Ter	coding	Pathogenic
17	61857186	A	T	A61857186T	BRIP1	NM_032043.3(BRIP1):c.251T>A:p.Leu84Ter	coding	Pathogenic
17	61857212	G	A	G61857212A	BRIP1	NM_032043.3(BRIP1):c.225C>T:p.Gly75=	coding	Benign/Likely_benign
17	61859794	A	G	A61859794G	BRIP1	NM_032043.3(BRIP1):c.205+2T>C	noncoding	Pathogenic
17	61859811	G	A	G61859811A	BRIP1	NM_032043.3(BRIP1):c.190C>T:p.Gln64Ter	coding	Pathogenic
17	61861375	A	C	A61861375C	BRIP1	NM_032043.3(BRIP1):c.93+72T>G	noncoding	Benign
17	61861525	C	T	C61861525T	BRIP1	NM_032043.3(BRIP1):c.15G>A:p.Trp5Ter	coding	Pathogenic
17	61863281	T	C	T61863281C	BRIP1	NM_032043.3(BRIP1):c.-31+3A>G	noncoding	Benign
17	61863294	G	A	G61863294A	BRIP1	NM_032043.3(BRIP1):c.-41C>T	noncoding	Benign
17	61956332	A	G	A61956332G	MED13	NM_005121.3(MED13):c.5623+7T>C	noncoding	Benign/Likely_benign
17	61962968	C	T	C61962968T	MED13	NM_005121.3(MED13):c.4848G>A:p.Thr1616=	coding	Benign
17	61966523	G	A	G61966523A	MED13	NM_005121.3(MED13):c.4320C>T:p.Asp1440=	coding	Benign
17	61966568	T	C	T61966568C	MED13	NM_005121.3(MED13):c.4275A>G:p.Lys1425=	coding	Benign
17	61968034	C	T	C61968034T	MED13	NM_005121.3(MED13):c.4191+1G>A	noncoding	Pathogenic
17	61984818	G	A	G61984818A	MED13	NM_005121.3(MED13):c.2524C>T:p.Gln842Ter	coding	Pathogenic
17	62033889	G	A	G62033889A	MED13	NM_005121.3(MED13):c.712C>T:p.Gln238Ter	coding	Pathogenic
17	62052514	C	T	C62052514T	MED13	NM_005121.3(MED13):c.470+23G>A	noncoding	Benign
17	62573368	G	A	G62573368A	TLK2	NM_006852.6(TLK2):c.1121+1G>A	coding	Pathogenic/Likely_pathogenic
17	62580181	G	T	G62580181T	TLK2	NM_006852.6(TLK2):c.1357G>T:p.Glu453Ter	coding	Pathogenic
17	62580190	A	T	A62580190T	TLK2	NM_006852.6(TLK2):c.1366A>T:p.Lys456Ter	coding	Pathogenic
17	62586133	A	G	A62586133G	TLK2	NM_006852.6(TLK2):c.1369-2A>G	noncoding	Pathogenic
17	62596675	G	A	G62596675A	TLK2	NM_006852.6(TLK2):c.1550+1G>A	coding	Pathogenic/Likely_pathogenic
17	62600686	A	G	A62600686G	TLK2	NM_006852.6(TLK2):c.1586A>G:p.Asp529Gly	coding	Pathogenic
17	62600736	C	T	C62600736T	TLK2	NM_006852.6(TLK2):c.1636C>T:p.Arg546Trp	coding	Pathogenic/Likely_pathogenic
17	62602105	C	T	C62602105T	TLK2	NM_006852.6(TLK2):c.1784C>T:p.Ser595Leu	coding	Pathogenic
17	62606142	A	G	A62606142G	TLK2	NM_006852.6(TLK2):c.1872A>G:p.Pro624=	coding	Benign
17	63237908	G	A	G63237908A	TANC2	NM_001394998.1(TANC2):c.864G>A:p.Trp288Ter	coding	Pathogenic
17	63389349	C	A	C63389349A	TANC2	NM_001394998.1(TANC2):c.2856C>A:p.Tyr952Ter	coding	Pathogenic
17	63406237	C	T	C63406237T	TANC2	NM_001394998.1(TANC2):c.3549C>T:p.Ser1183=	coding	Benign
17	63420758	T	C	T63420758C	TANC2	NM_001394998.1(TANC2):c.5028T>C:p.Pro1676=	coding	Benign
17	63476833	T	A	T63476833A	ACE	Single_allele	noncoding	Benign
17	63476980	C	T	C63476980T	ACE	Single_allele	noncoding	Benign
17	63477096	T	C	T63477096C	ACE	NM_000789.4(ACE):c.2T>C:p.Met1Thr	coding	Pathogenic
17	63477271	G	A	G63477271A	ACE	NM_000789.4(ACE):c.177G>A:p.Gln59=	coding	Benign/Likely_benign
17	63477552	G	C	G63477552C	ACE	NM_000789.4(ACE):c.249+209G>C	noncoding	Benign
17	63478305	G	A	G63478305A	ACE	NM_000789.4(ACE):c.417+207G>A	noncoding	Benign
17	63478937	C	G	C63478937G	ACE	NM_000789.4(ACE):c.418-70C>G	noncoding	Benign
17	63479166	A	G	A63479166G	ACE	NM_000789.4(ACE):c.511+66A>G	noncoding	Benign
17	63479857	G	A	G63479857A	ACE	NM_000789.4(ACE):c.600G>A:p.Leu200=	coding	Benign
17	63480578	C	T	C63480578T	ACE	NM_000789.4(ACE):c.847+50C>T	noncoding	Benign
17	63480868	A	G	A63480868G	ACE	NM_000789.4(ACE):c.848-223A>G	noncoding	Benign
17	63481106	A	G	A63481106G	ACE	NM_000789.4(ACE):c.863A>G:p.Gln288Arg	coding	Benign
17	63481113	G	A	G63481113A	ACE	NM_000789.4(ACE):c.870G>A:p.Trp290Ter	coding	Pathogenic
17	63481204	A	G	A63481204G	ACE	NM_000789.4(ACE):c.945+16A>G	noncoding	Benign
17	63481640	C	T	C63481640T	ACE	NM_000789.4(ACE):c.1020C>T:p.Pro340=	coding	Benign/Likely_benign
17	63482264	A	G	A63482264G	ACE	NM_000789.4(ACE):c.1119-202A>G	noncoding	Benign
17	63483012	A	G	A63483012G	ACE	NM_000789.4(ACE):c.1343-17A>G	noncoding	Benign
17	63483402	T	C	T63483402C	ACE	NM_000789.4(ACE):c.1488-58T>C	noncoding	Benign
17	63483577	C	T	C63483577T	ACE	NM_000789.4(ACE):c.1586+19C>T	noncoding	Benign
17	63483625	A	T	A63483625T	ACE	NM_000789.4(ACE):c.1586+67A>T	noncoding	Benign
17	63483656	C	T	C63483656T	ACE	NM_000789.4(ACE):c.1586+98C>T	noncoding	Benign
17	63484364	C	T	C63484364T	ACE	NM_000789.4(ACE):c.1744C>T:p.Gln582Ter	coding	Pathogenic
17	63484948	C	T	C63484948T	ACE	NM_000789.4(ACE):c.1922-288C>T	coding	Benign
17	63485192	G	A	G63485192A	ACE	NM_000789.4(ACE):c.1922-44G>A	noncoding	Benign
17	63485413	T	C	T63485413C	ACE	NM_000789.4(ACE):c.2058+41T>C	noncoding	Benign
17	63486300	C	A	C63486300A	ACE	NM_000789.4(ACE):c.2059-257C>A	noncoding	Benign
17	63486920	T	C	T63486920C	ACE	NM_000789.4(ACE):c.2218-66T>C	noncoding	Benign
17	63487161	T	C	T63487161C	ACE	NM_000789.4(ACE):c.2305+88T>C	noncoding	Benign
17	63487344	C	G	C63487344G	ACE	NM_000789.4(ACE):c.2305+271C>G	noncoding	Benign
17	63489363	G	A	G63489363A	ACE	NM_000789.4(ACE):c.2641+231G>A	noncoding	Benign
17	63493502	C	T	C63493502T	ACE	NM_000789.4(ACE):c.2979C>T:p.Ile993=	coding	Benign
17	63494091	C	T	C63494091T	ACE	NM_000789.4(ACE):c.3281+25C>T	noncoding	Benign
17	63494269	C	T	C63494269T	ACE	NM_000789.4(ACE):c.3282-103C>T	noncoding	Benign
17	63494394	C	A	C63494394A	ACE	NM_000789.4(ACE):c.3304C>A:p.Pro1102Thr	coding	Benign
17	63494546	G	A	G63494546A	ACE	NM_000789.4(ACE):c.3380+76G>A	noncoding	Benign
17	63496995	C	T	C63496995T	ACE	NM_000789.4(ACE):c.3691+10C>T	noncoding	Benign
17	63497314	G	A	G63497314A	ACE	NM_000789.4(ACE):c.3869G>A:p.Arg1290Gln	coding	Benign
17	63604580	A	G	A63604580G	TACO1	NM_016360.4(TACO1):c.327A>G:p.Leu109=	coding	Benign/Likely_benign
17	63604720	A	T	A63604720T	TACO1	NM_016360.4(TACO1):c.387+80A>T	noncoding	Benign
17	63632650	G	A	G63632650A	MAP3K3	NM_002401.5(MAP3K3):c.5-31G>A	noncoding	Benign
17	63632869	G	T	G63632869T	MAP3K3	NM_002401.5(MAP3K3):c.126+67G>T	noncoding	Benign
17	63652522	A	G	A63652522G	MAP3K3	NM_002401.5(MAP3K3):c.168-35A>G	noncoding	Benign
17	63657696	T	C	T63657696C	MAP3K3	NM_002401.5(MAP3K3):c.268-98T>C	noncoding	Benign
17	63657973	C	T	C63657973T	MAP3K3	NM_002401.5(MAP3K3):c.381+66C>T	noncoding	Benign
17	63666680	A	G	A63666680G	MAP3K3	NM_002401.5(MAP3K3):c.382-260A>G	noncoding	Benign
17	63685671	G	C	G63685671C	MAP3K3	NM_002401.5(MAP3K3):c.710+81G>C	noncoding	Benign
17	63685825	T	C	T63685825C	MAP3K3	NM_002401.5(MAP3K3):c.710+235T>C	noncoding	Benign
17	63685848	A	G	A63685848G	MAP3K3	NM_002401.5(MAP3K3):c.710+258A>G	noncoding	Benign
17	63688315	T	C	T63688315C	MAP3K3	NM_002401.5(MAP3K3):c.711-212T>C	noncoding	Benign
17	63689097	T	G	T63689097G	MAP3K3	NM_002401.5(MAP3K3):c.871+216T>G	noncoding	Benign
17	63689520	C	A	C63689520A	MAP3K3	NM_002401.5(MAP3K3):c.872-24C>A	noncoding	Benign
17	63691212	C	G	C63691212G	MAP3K3	NM_002401.5(MAP3K3):c.1323C>G:p.Ile441Met	coding	Pathogenic
17	63692096	T	C	T63692096C	MAP3K3	NM_002401.5(MAP3K3):c.1475-146T>C	noncoding	Benign
17	63692632	T	C	T63692632C	MAP3K3	NM_002401.5(MAP3K3):c.1652+213T>C	noncoding	Benign
17	63706620	G	A	G63706620A	STRADA	NM_001003787.4(STRADA):c.858+15C>T	noncoding	Benign
17	63710714	C	G	C63710714G	STRADA	NM_001003787.4(STRADA):c.457+14G>C	noncoding	Benign
17	63710854	G	A	G63710854A	STRADA	NM_001003787.4(STRADA):c.349-18C>T	noncoding	Benign
17	63728319	T	C	T63728319C	STRADA	NM_001003787.4(STRADA):c.36+15A>G	noncoding	Benign/Likely_benign
17	63752629	C	T	C63752629T	CCDC47	NM_020198.3(CCDC47):c.1093+112G>A	noncoding	Benign
17	63760899	G	A	G63760899A	CCDC47	NM_020198.3(CCDC47):c.735+15C>T	noncoding	Benign
17	63829486	T	C	T63829486C	PSMC5	NM_002805.6(PSMC5):c.97-8T>C	noncoding	Benign
17	63829958	A	G	A63829958G	PSMC5	NM_002805.6(PSMC5):c.264+9A>G	noncoding	Benign
17	63831196	C	T	C63831196T	PSMC5	NM_002805.6(PSMC5):c.840C>T:p.Leu280=	coding	Benign
17	63833131	G	A	G63833131A	SMARCD2	NM_001098426.2(SMARCD2):c.1480C>T:p.Arg494Ter	coding	Pathogenic
17	63833309	G	A	G63833309A	SMARCD2	NM_001098426.2(SMARCD2):c.1429C>T:p.Arg477Ter	coding	Pathogenic
17	63833613	G	A	G63833613A	SMARCD2	NM_001098426.2(SMARCD2):c.1291C>T:p.Gln431Ter	coding	Pathogenic
17	63833686	G	A	G63833686A	SMARCD2	NM_001098426.2(SMARCD2):c.1218C>T:p.Tyr406=	coding	Benign
17	63833719	G	A	G63833719A	SMARCD2	NM_001098426.2(SMARCD2):c.1185C>T:p.Val395=	coding	Benign
17	63834692	G	A	G63834692A	SMARCD2	NM_001098426.2(SMARCD2):c.819+13C>T	noncoding	Benign
17	63836957	T	A	T63836957A	SMARCD2	NM_001098426.2(SMARCD2):c.532A>T:p.Met178Leu	coding	Benign
17	63836978	G	A	G63836978A	SMARCD2	NM_001098426.2(SMARCD2):c.511C>T:p.Gln171Ter	coding	Pathogenic
17	63837625	G	A	G63837625A	SMARCD2	NM_001098426.2(SMARCD2):c.217C>T:p.Arg73Ter	coding	Pathogenic
17	63842604	G	A	G63842604A	SMARCD2	NM_001098426.2(SMARCD2):c.71C>T:p.Ala24Val	coding	Benign
17	63917670	A	T	A63917670T	GH1	NM_000515.5(GH1):c.456+90T>A	noncoding	Benign
17	63917741	C	A	C63917741A	GH1	NM_000515.5(GH1):c.456+19G>T	noncoding	Benign
17	63918132	T	C	T63918132C	GH1	NM_000515.5(GH1):c.176A>G:p.Glu59Gly	coding	Pathogenic
17	63918135	T	G	T63918135G	GH1	NM_000515.5(GH1):c.173A>C:p.Glu58Ala	coding	Pathogenic
17	63918136	C	T	C63918136T	GH1	NM_000515.5(GH1):c.172G>A:p.Glu58Lys	coding	Pathogenic
17	63918839	T	A	T63918839A	GH1	NM_000515.5(GH1):c.-63A>T	noncoding	Benign/Likely_benign
17	63918839	T	G	T63918839G	GH1	NM_000515.5(GH1):c.-63A>C	noncoding	Benign/Likely_benign
17	63918844	T	C	T63918844C	GH1	NM_000515.4(GH1):c.-68A>G	noncoding	Benign/Likely_benign
17	63918895	A	C	A63918895C	GH1	Single_allele	noncoding	Benign
17	63918913	T	C	T63918913C	GH1	Single_allele	noncoding	Benign
17	63919116	C	A	C63919116A	GH1	Single_allele	noncoding	Benign
17	63919139	C	A	C63919139A	GH1	Single_allele	noncoding	Benign
17	63919146	C	A	C63919146A	GH1	Single_allele	noncoding	Benign
17	63929072	G	A	G63929072A	CD79B	NM_000626.4(CD79B):c.*154C>T	noncoding	Benign
17	63929073	G	C	G63929073C	CD79B	NM_000626.4(CD79B):c.*153C>G	noncoding	Benign
17	63929137	A	G	A63929137G	CD79B	NM_000626.4(CD79B):c.*89T>C	noncoding	Benign
17	63929483	C	T	C63929483T	CD79B	NM_000626.4(CD79B):c.550-8G>A	noncoding	Benign
17	63929492	A	G	A63929492G	CD79B	NM_000626.4(CD79B):c.550-17T>C	noncoding	Benign
17	63929637	T	C	T63929637C	CD79B	NM_000626.4(CD79B):c.549+133A>G	noncoding	Benign
17	63931077	C	T	C63931077T	CD79B	NM_000626.4(CD79B):c.118+258G>A	noncoding	Benign
17	63931323	G	A	G63931323A	CD79B	NM_000626.4(CD79B):c.118+12C>T	noncoding	Benign
17	63931525	C	T	C63931525T	CD79B	NM_000626.4(CD79B):c.68-140G>A	noncoding	Benign
17	63931605	T	G	T63931605G	CD79B	NM_000626.4(CD79B):c.68-220A>C	noncoding	Benign
17	63932178	C	G	C63932178G	CD79B	NM_000626.4(CD79B):c.67+17G>C	noncoding	Benign
17	63932631	A	G	A63932631G	CD79B	Single_allele	noncoding	Benign
17	63938510	C	A	C63938510A	SCN4A	Single_allele	noncoding	Benign
17	63939075	G	C	G63939075C	SCN4A	NM_000334.4(SCN4A):c.*1696C>G	noncoding	Benign
17	63941169	A	T	A63941169T	SCN4A	NM_000334.4(SCN4A):c.5113T>A:p.Phe1705Ile	coding	Pathogenic/Likely_pathogenic
17	63941253	G	A	G63941253A	SCN4A	NM_000334.4(SCN4A):c.5029C>T:p.Leu1677=	coding	Benign/Likely_benign
17	63941603	G	A	G63941603A	SCN4A	NM_000334.4(SCN4A):c.4679C>T:p.Pro1560Leu	coding	Pathogenic
17	63941764	G	T	G63941764T	SCN4A	NM_000334.4(SCN4A):c.4518C>A:p.Tyr1506Ter	coding	Pathogenic
17	63941872	C	T	C63941872T	SCN4A	NM_000334.4(SCN4A):c.4410G>A:p.Thr1470=	coding	Benign/Likely_benign
17	63941894	C	T	C63941894T	SCN4A	NM_000334.4(SCN4A):c.4388G>A:p.Arg1463His	coding	Pathogenic
17	63941982	A	G	A63941982G	SCN4A	NM_000334.4(SCN4A):c.4300T>C:p.Ser1434Pro	coding	Pathogenic
17	63943036	T	C	T63943036C	SCN4A	NM_000334.4(SCN4A):c.4078A>G:p.Met1360Val	coding	Pathogenic
17	63943643	G	T	G63943643T	SCN4A	NM_000334.4(SCN4A):c.4017+103C>A	noncoding	Benign
17	63943834	A	T	A63943834T	SCN4A	NM_000334.4(SCN4A):c.3929T>A:p.Ile1310Asn	coding	Pathogenic
17	63943952	G	A	G63943952A	SCN4A	NM_000334.4(SCN4A):c.3913-102C>T	noncoding	Benign
17	63944020	C	T	C63944020T	SCN4A	NM_000334.4(SCN4A):c.3913-170G>A	noncoding	Benign
17	63944848	C	T	C63944848T	SCN4A	NM_000334.4(SCN4A):c.3775-38G>A	noncoding	Benign
17	63945310	G	C	G63945310C	SCN4A	NM_000334.4(SCN4A):c.3720+50C>G	noncoding	Benign
17	63945614	C	T	C63945614T	SCN4A	NM_000334.4(SCN4A):c.3466G>A:p.Ala1156Thr	coding	Pathogenic/Likely_pathogenic
17	63946943	C	T	C63946943T	SCN4A	NM_000334.4(SCN4A):c.3441+102G>A	noncoding	Benign
17	63947061	C	T	C63947061T	SCN4A	NM_000334.4(SCN4A):c.3425G>A:p.Arg1142Gln	coding	Pathogenic
17	63947923	G	A	G63947923A	SCN4A	NM_000334.4(SCN4A):c.3285C>T:p.Asn1095=	coding	Benign/Likely_benign
17	63948470	C	T	C63948470T	SCN4A	NM_000334.4(SCN4A):c.3144+141G>A	noncoding	Benign
17	63949334	C	T	C63949334T	SCN4A	NM_000334.4(SCN4A):c.2989+59G>A	noncoding	Benign
17	63949748	G	A	G63949748A	SCN4A	NM_000334.4(SCN4A):c.2854-220C>T	noncoding	Benign
17	63951394	G	A	G63951394A	SCN4A	NM_000334.4(SCN4A):c.2853+30C>T	noncoding	Benign
17	63951580	C	T	C63951580T	SCN4A	NM_000334.4(SCN4A):c.2697G>A:p.Leu899=	coding	Benign/Likely_benign
17	63951866	G	A	G63951866A	SCN4A	NM_000334.4(SCN4A):c.2411C>T:p.Ser804Phe	coding	Pathogenic/Likely_pathogenic
17	63957119	C	T	C63957119T	SCN4A	NM_000334.4(SCN4A):c.2376+43G>A	noncoding	Benign
17	63957567	C	T	C63957567T	SCN4A	NM_000334.4(SCN4A):c.2020-49G>A	noncoding	Benign
17	63961175	T	C	T63961175C	SCN4A	NM_000334.4(SCN4A):c.1845+18A>G	noncoding	Benign
17	63961181	G	C	G63961181C	SCN4A	NM_000334.4(SCN4A):c.1845+12C>G	noncoding	Benign
17	63961238	G	C	G63961238C	SCN4A	NM_000334.4(SCN4A):c.1800C>G:p.Tyr600Ter	coding	Pathogenic
17	63961328	G	A	G63961328A	SCN4A	NM_000334.4(SCN4A):c.1710C>T:p.Ile570=	coding	Benign/Likely_benign
17	63961770	T	C	T63961770C	SCN4A	NM_000334.4(SCN4A):c.1607-339A>G	noncoding	Benign
17	63964208	G	A	G63964208A	SCN4A	NM_000334.4(SCN4A):c.1452+260C>T	noncoding	Benign
17	63964671	G	A	G63964671A	SCN4A	NM_000334.4(SCN4A):c.1249C>T:p.Arg417Ter	coding	Pathogenic
17	63965855	A	G	A63965855G	SCN4A	NM_000334.4(SCN4A):c.1242+247T>C	noncoding	Benign
17	63966398	G	C	G63966398C	SCN4A	NM_000334.4(SCN4A):c.1100+83C>G	noncoding	Benign
17	63966656	C	T	C63966656T	SCN4A	NM_000334.4(SCN4A):c.1037-112G>A	noncoding	Benign
17	63968141	C	T	C63968141T	SCN4A	NM_000334.4(SCN4A):c.918G>A:p.Trp306Ter	coding	Pathogenic
17	63968310	A	G	A63968310G	SCN4A	NM_000334.4(SCN4A):c.749T>C:p.Leu250Pro	coding	Pathogenic/Likely_pathogenic
17	63968322	G	A	G63968322A	SCN4A	NM_000334.4(SCN4A):c.737C>T:p.Ser246Leu	coding	Pathogenic
17	63971200	C	T	C63971200T	SCN4A	NM_000334.4(SCN4A):c.665G>A:p.Arg222Gln	coding	Pathogenic
17	63971271	G	T	G63971271T	SCN4A	NM_000334.4(SCN4A):c.612-18C>A	noncoding	Benign/Likely_benign
17	63971347	C	T	C63971347T	SCN4A	NM_000334.4(SCN4A):c.612-94G>A	noncoding	Benign
17	63971372	G	A	G63971372A	SCN4A	NM_000334.4(SCN4A):c.612-119C>T	noncoding	Benign
17	63971725	A	T	A63971725T	SCN4A	NM_000334.4(SCN4A):c.608T>A:p.Met203Lys	coding	Pathogenic
17	63971749	C	T	C63971749T	SCN4A	NM_000334.4(SCN4A):c.584G>A:p.Trp195Ter	coding	Pathogenic
17	63972552	C	G	C63972552G	SCN4A	NM_000334.4(SCN4A):c.273+17G>C	noncoding	Benign
17	64477984	C	A	C64477984A	POLG2	NM_007215.4(POLG2):c.1297G>T:p.Asp433Tyr	coding	Pathogenic
17	64485684	A	G	A64485684G	POLG2	NM_007215.4(POLG2):c.1110+44T>C	noncoding	Benign
17	64490883	G	C	G64490883C	POLG2	NM_007215.4(POLG2):c.882C>G:p.Pro294=	coding	Benign
17	64492360	A	G	A64492360G	POLG2	NM_007215.4(POLG2):c.795+307T>C	noncoding	Benign
17	64492719	G	T	G64492719T	POLG2	NM_007215.4(POLG2):c.743C>A:p.Ser248Ter	coding	Pathogenic
17	64492749	G	T	G64492749T	POLG2	NM_007215.4(POLG2):c.713C>A:p.Ser238Ter	coding	Pathogenic
17	64496186	C	T	C64496186T	POLG2	NM_007215.4(POLG2):c.562+221G>A	noncoding	Benign
17	64496506	C	A	C64496506A	POLG2	NM_007215.4(POLG2):c.463G>T:p.Glu155Ter	coding	Pathogenic
17	64497225	T	C	T64497225C	POLG2	Single_allele	noncoding	Benign
17	65153499	C	T	C65153499T	RGS9	NM_003835.4(RGS9):c.135C>T:p.Ser45=	coding	Benign
17	65160330	C	T	C65160330T	RGS9	NM_003835.4(RGS9):c.303C>T:p.Tyr101=	coding	Benign
17	65160349	G	A	G65160349A	RGS9	NM_003835.4(RGS9):c.312+10G>A	noncoding	Benign
17	65163105	C	A	C65163105A	RGS9	NM_003835.4(RGS9):c.500+16C>A	noncoding	Benign
17	65197110	C	A	C65197110A	RGS9	NM_003835.4(RGS9):c.861-16C>A	noncoding	Benign
17	65225462	G	C	G65225462C	RGS9	NM_003835.4(RGS9):c.1868G>C:p.Arg623Pro	coding	Benign
17	65227255	C	T	C65227255T	RGS9	NM_003835.4(RGS9):c.1893-20C>T	noncoding	Benign
17	65227260	C	T	C65227260T	RGS9	NM_003835.4(RGS9):c.1893-15C>T	noncoding	Benign
17	65530042	C	T	C65530042T	AXIN2	NM_004655.4(AXIN2):c.2466G>A:p.Trp822Ter	coding	Pathogenic
17	65534013	G	T	G65534013T	AXIN2	NM_004655.4(AXIN2):c.2304C>A:p.Tyr768Ter	coding	Pathogenic
17	65535623	C	T	C65535623T	AXIN2	NM_004655.4(AXIN2):c.2237+3G>A	noncoding	Benign/Likely_benign
17	65535741	G	A	G65535741A	AXIN2	NM_004655.4(AXIN2):c.2142-20C>T	noncoding	Benign/Likely_benign
17	65536057	A	G	A65536057G	AXIN2	NM_004655.4(AXIN2):c.2141+263T>C	noncoding	Benign
17	65536247	C	T	C65536247T	AXIN2	NM_004655.4(AXIN2):c.2141+73G>A	noncoding	Benign
17	65536369	C	A	C65536369A	AXIN2	NM_004655.4(AXIN2):c.2092G>T:p.Glu698Ter	coding	Pathogenic
17	65536375	G	A	G65536375A	AXIN2	NM_004655.4(AXIN2):c.2086C>T:p.Gln696Ter	coding	Pathogenic
17	65536649	C	G	C65536649G	AXIN2	NM_004655.4(AXIN2):c.1908-96G>C	noncoding	Benign
17	65536796	A	G	A65536796G	AXIN2	NM_004655.4(AXIN2):c.1907+73T>C	noncoding	Benign
17	65536852	C	T	C65536852T	AXIN2	NM_004655.4(AXIN2):c.1907+17G>A	noncoding	Benign/Likely_benign
17	65536897	C	A	C65536897A	AXIN2	NM_004655.4(AXIN2):c.1879G>T:p.Glu627Ter	coding	Pathogenic
17	65536903	C	A	C65536903A	AXIN2	NM_004655.4(AXIN2):c.1873G>T:p.Glu625Ter	coding	Pathogenic
17	65537331	G	A	G65537331A	AXIN2	NM_004655.4(AXIN2):c.1705C>T:p.Gln569Ter	coding	Pathogenic
17	65537491	G	A	G65537491A	AXIN2	NM_004655.4(AXIN2):c.1545C>T:p.His515=	coding	Benign/Likely_benign
17	65537730	G	A	G65537730A	AXIN2	NM_004655.4(AXIN2):c.1306C>T:p.Gln436Ter	coding	Pathogenic
17	65537785	C	A	C65537785A	AXIN2	NM_004655.4(AXIN2):c.1251G>T:p.Ala417=	coding	Benign/Likely_benign
17	65538036	C	T	C65538036T	AXIN2	NM_004655.4(AXIN2):c.1200+167G>A	noncoding	Benign
17	65538132	T	C	T65538132C	AXIN2	NM_004655.4(AXIN2):c.1200+71A>G	noncoding	Benign
17	65538184	A	G	A65538184G	AXIN2	NM_004655.4(AXIN2):c.1200+19T>C	noncoding	Benign/Likely_benign
17	65538185	A	C	A65538185C	AXIN2	NM_004655.4(AXIN2):c.1200+18T>G	noncoding	Benign
17	65538235	T	C	T65538235C	AXIN2	NM_004655.4(AXIN2):c.1168A>G:p.Ser390Gly	coding	Benign/Likely_benign
17	65538311	G	A	G65538311A	AXIN2	NM_004655.4(AXIN2):c.1092C>T:p.Pro364=	coding	Benign/Likely_benign
17	65538333	C	T	C65538333T	AXIN2	NM_004655.4(AXIN2):c.1070G>A:p.Arg357His	coding	Benign/Likely_benign
17	65538420	C	A	C65538420A	AXIN2	NM_004655.4(AXIN2):c.1060-77G>T	noncoding	Benign
17	65538597	T	C	T65538597C	AXIN2	NM_004655.4(AXIN2):c.1060-254A>G	noncoding	Benign
17	65538625	T	C	T65538625C	AXIN2	NM_004655.4(AXIN2):c.1060-282A>G	noncoding	Benign
17	65538630	T	C	T65538630C	AXIN2	NM_004655.4(AXIN2):c.1060-287A>G	noncoding	Benign
17	65538663	C	A	C65538663A	AXIN2	NM_004655.4(AXIN2):c.1060-320G>T	noncoding	Benign
17	65541780	T	C	T65541780C	AXIN2	NM_004655.4(AXIN2):c.957-223A>G	noncoding	Benign
17	65549501	G	T	G65549501T	AXIN2	NM_004655.4(AXIN2):c.956+19C>A	noncoding	Benign/Likely_benign
17	65557883	G	A	G65557883A	AXIN2	NM_004655.4(AXIN2):c.738C>T:p.Thr246=	coding	Benign/Likely_benign
17	65557888	G	A	G65557888A	AXIN2	NM_004655.4(AXIN2):c.733C>T:p.Pro245Ser	coding	Benign/Likely_benign
17	65557992	A	G	A65557992G	AXIN2	NM_004655.4(AXIN2):c.629T>C:p.Met210Thr	coding	Benign/Likely_benign
17	65558099	C	A	C65558099A	AXIN2	NM_004655.4(AXIN2):c.522G>T:p.Ala174=	coding	Benign/Likely_benign
17	65558131	G	A	G65558131A	AXIN2	NM_004655.4(AXIN2):c.490C>T:p.Gln164Ter	coding	Pathogenic
17	65558289	C	T	C65558289T	AXIN2	NM_004655.4(AXIN2):c.332G>A:p.Trp111Ter	coding	Pathogenic
17	65558351	G	A	G65558351A	AXIN2	NM_004655.4(AXIN2):c.270C>T:p.Asp90=	coding	Benign/Likely_benign
17	65558388	C	T	C65558388T	AXIN2	NM_004655.4(AXIN2):c.233G>A:p.Trp78Ter	coding	Pathogenic
17	65558753	G	C	G65558753C	AXIN2	NM_004655.4(AXIN2):c.-116-17C>G	noncoding	Benign
17	65561293	G	T	G65561293T	AXIN2	NM_004655.4(AXIN2):c.-117+157C>A	noncoding	Benign
17	65561653	G	T	G65561653T	AXIN2	Single_allele	noncoding	Benign
17	66220697	C	T	C66220697T	APOH	NM_000042.3(APOH):c.461G>A:p.Arg154His	coding	Benign
17	66688960	G	A	G66688960A	PRKCA	NM_002737.3(PRKCA):c.831G>A:p.Leu277=	coding	Benign
17	67344611	C	A	C67344611A	PSMD12	NM_002816.5(PSMD12):c.1078G>T:p.Glu360Ter	coding	Pathogenic
17	67345860	A	G	A67345860G	PSMD12	NM_002816.5(PSMD12):c.796-3T>C	noncoding	Benign
17	67348630	G	A	G67348630A	PSMD12	NM_002816.5(PSMD12):c.430C>T:p.Arg144Ter	coding	Pathogenic/Likely_pathogenic
17	67366436	T	A	T67366436A	PSMD12	NM_002816.5(PSMD12):c.84A>T:p.Leu28=	coding	Benign
17	67825760	C	G	C67825760G	BPTF	NM_182641.4(BPTF):c.36C>G:p.Pro12=	coding	Benign
17	67826011	G	C	G67826011C	BPTF	NM_182641.4(BPTF):c.287G>C:p.Gly96Ala	coding	Benign
17	67826305	T	G	T67826305G	BPTF	NM_182641.4(BPTF):c.581T>G:p.Phe194Cys	coding	Benign
17	67891978	C	T	C67891978T	BPTF	NM_182641.4(BPTF):c.1999C>T:p.Gln667Ter	coding	Pathogenic
17	67913096	C	T	C67913096T	BPTF	NM_182641.4(BPTF):c.5212C>T:p.Arg1738Ter	coding	Pathogenic
17	67959535	T	C	T67959535C	BPTF	NM_182641.4(BPTF):c.7927-6T>C	noncoding	Benign
17	68307775	A	T	A68307775T	ARSG	NM_001267727.2(ARSG):c.218+64A>T	noncoding	Benign
17	68343723	G	A	G68343723A	ARSG	NM_001267727.2(ARSG):c.338G>A:p.Gly113Asp	coding	Pathogenic
17	68347041	A	G	A68347041G	ARSG	NM_001267727.2(ARSG):c.407-84A>G	noncoding	Benign
17	68351559	G	A	G68351559A	ARSG	NM_001267727.2(ARSG):c.455-16G>A	noncoding	Benign
17	68356439	C	G	C68356439G	ARSG	NM_001267727.2(ARSG):c.567-228C>G	noncoding	Benign
17	68356470	A	G	A68356470G	ARSG	NM_001267727.2(ARSG):c.567-197A>G	noncoding	Benign
17	68356695	G	A	G68356695A	ARSG	NM_001267727.2(ARSG):c.595G>A:p.Val199Met	coding	Benign
17	68356712	T	C	T68356712C	ARSG	NM_001267727.2(ARSG):c.612T>C:p.Tyr204=	coding	Benign
17	68368436	G	A	G68368436A	ARSG	NM_001267727.2(ARSG):c.705-112G>A	noncoding	Benign
17	68368550	C	G	C68368550G	ARSG	NM_001267727.2(ARSG):c.707C>G:p.Thr236Ser	coding	Benign
17	68368599	G	A	G68368599A	ARSG	NM_001267727.2(ARSG):c.756G>A:p.Val252=	coding	Benign
17	68368608	T	C	T68368608C	ARSG	NM_001267727.2(ARSG):c.765T>C:p.Pro255=	coding	Benign
17	68368663	T	C	T68368663C	ARSG	NM_001267727.2(ARSG):c.820T>C:p.Trp274Arg	coding	Benign
17	68370445	A	G	A68370445G	ARSG	NM_001267727.2(ARSG):c.903A>G:p.Gly301=	coding	Benign
17	68370518	C	G	C68370518G	ARSG	NM_001267727.2(ARSG):c.976C>G:p.Arg326Gly	coding	Benign
17	68370598	C	T	C68370598T	ARSG	NM_001267727.2(ARSG):c.982+74C>T	noncoding	Benign
17	68384852	G	A	G68384852A	ARSG	NM_001267727.2(ARSG):c.983-212G>A	noncoding	Benign
17	68385107	G	A	G68385107A	ARSG	NM_001267727.2(ARSG):c.1026G>A:p.Arg342=	coding	Benign
17	68385244	A	G	A68385244G	ARSG	NM_001267727.2(ARSG):c.1091+72A>G	noncoding	Benign
17	68394837	C	T	C68394837T	ARSG	NM_001267727.2(ARSG):c.1092-236C>T	noncoding	Benign
17	68395091	A	G	A68395091G	ARSG	NM_001267727.2(ARSG):c.1110A>G:p.Pro370=	coding	Benign
17	68395135	G	A	G68395135A	ARSG	NM_001267727.2(ARSG):c.1154G>A:p.Arg385His	coding	Benign
17	68395173	C	T	C68395173T	ARSG	NM_001267727.2(ARSG):c.1192C>T:p.Arg398Trp	coding	Benign
17	68401380	C	T	C68401380T	ARSG	NM_001267727.2(ARSG):c.1233C>T:p.Ser411=	coding	Benign
17	68401417	C	T	C68401417T	ARSG	NM_001267727.2(ARSG):c.1270C>T:p.Arg424Cys	coding	Pathogenic
17	68401485	G	T	G68401485T	ARSG	NM_001267727.2(ARSG):c.1303+35G>T	noncoding	Benign
17	68401599	A	G	A68401599G	ARSG	NM_001267727.2(ARSG):c.1303+149A>G	noncoding	Benign
17	68401631	T	G	T68401631G	ARSG	NM_001267727.2(ARSG):c.1303+181T>G	noncoding	Benign
17	68420216	C	T	C68420216T	ARSG	NM_001267727.2(ARSG):c.1331C>T:p.Thr444Met	coding	Benign
17	68420495	C	T	C68420495T	ARSG	NM_001267727.2(ARSG):c.*32C>T	noncoding	Benign
17	68512102	C	A	C68512102A	PRKAR1A	NM_212471.3(PRKAR1A):c.-47C>A	noncoding	Benign
17	68512311	G	T	G68512311T	PRKAR1A	NM_212471.3(PRKAR1A):c.-7+169G>T	noncoding	Benign
17	68512486	A	G	A68512486G	PRKAR1A	NM_002734.5(PRKAR1A):c.-69A>G	noncoding	Benign
17	68514683	A	G	A68514683G	PRKAR1A	NM_002734.5(PRKAR1A):c.-6-711A>G	noncoding	Benign
17	68515462	C	T	C68515462T	PRKAR1A	NM_002734.5(PRKAR1A):c.63C>T:p.Tyr21=	coding	Benign/Likely_benign
17	68523817	G	A	G68523817A	PRKAR1A	NM_002734.5(PRKAR1A):c.440+1G>A	coding	Pathogenic
17	68524058	A	G	A68524058G	PRKAR1A	NM_002734.5(PRKAR1A):c.483A>G:p.Gly161=	coding	Benign/Likely_benign
17	68524074	C	T	C68524074T	PRKAR1A	NM_002734.5(PRKAR1A):c.499C>T:p.Gln167Ter	coding	Pathogenic
17	68524972	A	G	A68524972G	PRKAR1A	NM_002734.5(PRKAR1A):c.549+14A>G	noncoding	Benign
17	68525736	A	G	A68525736G	PRKAR1A	NM_002734.5(PRKAR1A):c.550-18A>G	noncoding	Benign
17	68528614	C	T	C68528614T	PRKAR1A	NM_002734.5(PRKAR1A):c.770-256C>T	noncoding	Benign
17	68528846	G	A	G68528846A	PRKAR1A	NM_002734.5(PRKAR1A):c.770-24G>A	noncoding	Benign
17	68529323	T	A	T68529323A	PRKAR1A	NM_002734.5(PRKAR1A):c.891+332T>A	noncoding	Benign
17	68529886	G	T	G68529886T	PRKAR1A	NM_002734.5(PRKAR1A):c.892-34G>T	noncoding	Benign
17	68529918	A	G	A68529918G	PRKAR1A	NM_002734.5(PRKAR1A):c.892-2A>G	noncoding	Pathogenic
17	68530175	A	T	A68530175T	PRKAR1A	NM_002734.5(PRKAR1A):c.974-102A>T	noncoding	Benign
17	68530258	C	T	C68530258T	PRKAR1A	NM_002734.5(PRKAR1A):c.974-19C>T	noncoding	Benign
17	68530301	G	A	G68530301A	PRKAR1A	NM_002734.5(PRKAR1A):c.998G>A:p.Arg333His	coding	Benign
17	68537267	C	T	C68537267T	FAM20A	NM_017565.4(FAM20A):c.*210G>A	coding	Benign
17	68537671	G	T	G68537671T	FAM20A;PRKAR1A	NM_017565.4(FAM20A):c.1432C>A:p.Arg478_Glu479=	coding	Benign/Likely_benign
17	68537838	C	G	C68537838G	FAM20A	NM_017565.4(FAM20A):c.1362-97G>C	noncoding	Benign
17	68538004	A	G	A68538004G	FAM20A	NM_017565.4(FAM20A):c.1362-263T>C	noncoding	Benign
17	68539605	C	T	C68539605T	FAM20A	NM_017565.4(FAM20A):c.1302-209G>A	noncoding	Benign
17	68539892	C	A	C68539892A	PRKAR1A	NM_017565.4(FAM20A):c.1294G>T:p.Ala432Ser	coding	Benign
17	68540078	G	C	G68540078C	FAM20A	NM_017565.4(FAM20A):c.1220-112C>G	noncoding	Benign
17	68540153	G	T	G68540153T	FAM20A	NM_017565.4(FAM20A):c.1220-187C>A	noncoding	Benign
17	68540608	C	T	C68540608T	FAM20A	NM_017565.4(FAM20A):c.1219+241G>A	noncoding	Benign
17	68541010	C	T	C68541010T	FAM20A	NM_017565.4(FAM20A):c.1110-52G>A	noncoding	Benign
17	68541154	G	A	G68541154A	FAM20A	NM_017565.4(FAM20A):c.1110-196C>T	noncoding	Benign
17	68541163	G	A	G68541163A	FAM20A	NM_017565.4(FAM20A):c.1110-205C>T	noncoding	Benign
17	68541233	G	T	G68541233T	FAM20A	NM_017565.4(FAM20A):c.1110-275C>A	noncoding	Benign
17	68542277	G	A	G68542277A	FAM20A	NM_017565.4(FAM20A):c.929-112C>T	noncoding	Benign
17	68542678	C	T	C68542678T	FAM20A	NM_017565.4(FAM20A):c.928+16G>A	noncoding	Benign
17	68542871	T	C	T68542871C	FAM20A	NM_017565.4(FAM20A):c.813-62A>G	noncoding	Benign
17	68543580	G	A	G68543580A	FAM20A	NM_017565.4(FAM20A):c.812+49C>T	noncoding	Benign
17	68543706	C	T	C68543706T	FAM20A	NM_017565.4(FAM20A):c.735G>A:p.Glu245_Glu246=	coding	Benign
17	68543720	G	A	G68543720A	FAM20A	NM_017565.4(FAM20A):c.721C>T:p.Gln241Ter	coding	Pathogenic
17	68554746	G	A	G68554746A	FAM20A	NM_017565.4(FAM20A):c.640+31C>T	noncoding	Benign
17	68554766	A	G	A68554766G	FAM20A	NM_017565.4(FAM20A):c.640+11T>C	noncoding	Benign
17	68554869	T	C	T68554869C	FAM20A	NM_017565.4(FAM20A):c.590-42A>G	noncoding	Benign
17	68555887	T	G	T68555887G	FAM20A	NM_017565.4(FAM20A):c.405-144A>C	noncoding	Benign
17	68556002	T	C	T68556002C	FAM20A	NM_017565.4(FAM20A):c.405-259A>G	noncoding	Benign
17	70075206	C	T	C70075206T	KCNJ16	Single_allele	noncoding	Benign
17	70100517	T	C	T70100517C	KCNJ16	NM_170741.4(KCNJ16):c.-299-141T>C	noncoding	Benign
17	70130650	A	G	A70130650G	KCNJ16	NM_170741.4(KCNJ16):c.-190-229A>G	noncoding	Benign
17	70131049	T	A	T70131049A	KCNJ16	NM_170741.4(KCNJ16):c.-94+74T>A	noncoding	Benign
17	70131052	C	T	C70131052T	KCNJ16	NM_170741.4(KCNJ16):c.-94+77C>T	noncoding	Benign
17	70132118	A	G	A70132118G	KCNJ16	NM_170741.4(KCNJ16):c.31A>G:p.Ile11Val	coding	Benign
17	70132278	C	T	C70132278T	KCNJ16	NM_170741.4(KCNJ16):c.191C>T:p.Thr64Ile	coding	Pathogenic
17	70132482	T	G	T70132482G	KCNJ16	NM_170741.4(KCNJ16):c.395T>G:p.Ile132Arg	coding	Pathogenic
17	70132491	G	C	G70132491C	KCNJ16	NM_170741.4(KCNJ16):c.404G>C:p.Gly135Ala	coding	Pathogenic
17	70132496	C	T	C70132496T	KCNJ16	NM_170741.4(KCNJ16):c.409C>T:p.Arg137Cys	coding	Pathogenic
17	70132613	C	T	C70132613T	KCNJ16	NM_170741.4(KCNJ16):c.526C>T:p.Arg176Ter	coding	Pathogenic
17	70132759	A	C	A70132759C	KCNJ16	NM_170741.4(KCNJ16):c.672A>C:p.Thr224=	coding	Benign
17	70132836	C	T	C70132836T	KCNJ16	NM_170741.4(KCNJ16):c.749C>T:p.Pro250Leu	coding	Pathogenic
17	70169388	G	A	G70169388A	KCNJ2	NR_036534.1(KCNJ2-AS1):n.15C>T	noncoding	Benign
17	70169740	C	T	C70169740T	KCNJ2	NM_000891.3(KCNJ2):c.-217+39C>T	noncoding	Benign
17	70174715	A	G	A70174715G	KCNJ2	NM_000891.3(KCNJ2):c.-216-109A>G	noncoding	Benign
17	70174878	A	T	A70174878T	KCNJ2	NM_000891.3(KCNJ2):c.-162A>T	noncoding	Benign
17	70174897	C	T	C70174897T	KCNJ2	NM_000891.3(KCNJ2):c.-143C>T	noncoding	Benign
17	70174980	G	A	G70174980A	KCNJ2	NM_000891.3(KCNJ2):c.-60G>A	noncoding	Benign
17	70175026	C	T	C70175026T	KCNJ2	NM_000891.3(KCNJ2):c.-14C>T	noncoding	Benign
17	70175450	T	C	T70175450C	KCNJ2	NM_000891.3(KCNJ2):c.411T>C:p.Ile137=	coding	Benign/Likely_benign
17	70175469	G	A	G70175469A	KCNJ2	NM_000891.3(KCNJ2):c.430G>A:p.Gly144Ser	coding	Pathogenic
17	70175654	C	T	C70175654T	KCNJ2	NM_000891.3(KCNJ2):c.615C>T:p.Asp205=	coding	Benign/Likely_benign
17	70175717	T	C	T70175717C	KCNJ2	NM_000891.3(KCNJ2):c.678T>C:p.His226=	coding	Benign/Likely_benign
17	70175958	A	G	A70175958G	KCNJ2	NM_000891.3(KCNJ2):c.919A>G:p.Met307Val	coding	Pathogenic/Likely_pathogenic
17	70175973	C	T	C70175973T	KCNJ2	NM_000891.3(KCNJ2):c.934C>T:p.Arg312Cys	coding	Pathogenic/Likely_pathogenic
17	70175974	G	A	G70175974A	KCNJ2	NM_000891.3(KCNJ2):c.935G>A:p.Arg312His	coding	Pathogenic/Likely_pathogenic
17	70176041	G	A	G70176041A	KCNJ2	NM_000891.3(KCNJ2):c.1002G>A:p.Lys334=	coding	Benign/Likely_benign
17	70179075	T	C	T70179075C	KCNJ2	NM_000891.3(KCNJ2):c.*2752T>C	noncoding	Benign
17	70179081	T	C	T70179081C	KCNJ2	NM_000891.3(KCNJ2):c.*2758T>C	noncoding	Benign
17	72121309	G	A	G72121309A	SOX9	NM_000346.4(SOX9):c.-83G>A	noncoding	Benign
17	72121609	T	C	T72121609C	SOX9	NM_000346.4(SOX9):c.218T>C:p.Ile73Thr	coding	Pathogenic
17	72121704	G	T	G72121704T	SOX9	NM_000346.4(SOX9):c.313G>T:p.Val105Phe	coding	Pathogenic
17	72121728	A	G	A72121728G	SOX9	NM_000346.4(SOX9):c.337A>G:p.Met113Val	coding	Pathogenic
17	72122764	G	A	G72122764A	SOX9	NM_000346.4(SOX9):c.477G>A:p.Glu159=	coding	Benign
17	72122814	C	T	C72122814T	SOX9	NM_000346.4(SOX9):c.527C>T:p.Pro176Leu	coding	Pathogenic
17	72122944	C	T	C72122944T	SOX9	NM_000346.4(SOX9):c.657C>T:p.Ser219=	coding	Benign
17	72123541	A	G	A72123541G	SOX9	NM_000346.4(SOX9):c.686-2A>G	noncoding	Pathogenic
17	72123575	A	C	A72123575C	SOX9	NM_000346.4(SOX9):c.718A>C:p.Thr240Pro	coding	Benign/Likely_benign
17	72123596	C	A	C72123596A	SOX9	NM_000346.4(SOX9):c.739C>A:p.Pro247Thr	coding	Benign
17	72123890	C	T	C72123890T	SOX9	NM_000346.4(SOX9):c.1033C>T:p.Pro345Ser	coding	Benign/Likely_benign
17	72124026	G	C	G72124026C	SOX9	NM_000346.4(SOX9):c.1169G>C:p.Gly390Ala	coding	Benign
17	72124410	A	C	A72124410C	SOX9	NM_000346.4(SOX9):c.*23A>C	noncoding	Benign
17	72126443	C	A	C72126443A	SOX9	Single_allele	noncoding	Benign
17	73192719	G	A	G73192719A	COG1	Single_allele	noncoding	Benign
17	73192834	G	C	G73192834C	COG1	Single_allele	noncoding	Benign
17	73193127	G	C	G73193127C	COG1	NM_018714.3(COG1):c.58G>C:p.Ala20Pro	coding	Benign/Likely_benign
17	73196329	C	T	C73196329T	COG1	NM_018714.3(COG1):c.316-178C>T	noncoding	Benign
17	73196816	C	T	C73196816T	COG1	NM_018714.3(COG1):c.560+65C>T	noncoding	Benign
17	73197451	C	T	C73197451T	COG1	NM_018714.3(COG1):c.913+55C>T	noncoding	Benign
17	73197455	G	A	G73197455A	COG1	NM_018714.3(COG1):c.913+59G>A	noncoding	Benign
17	73197494	G	A	G73197494A	COG1	NM_018714.3(COG1):c.913+98G>A	noncoding	Benign
17	73199810	C	T	C73199810T	COG1	NM_018714.3(COG1):c.914-55C>T	noncoding	Benign
17	73200158	C	T	C73200158T	COG1	NM_018714.3(COG1):c.1070+137C>T	noncoding	Benign
17	73200220	A	G	A73200220G	COG1	NM_018714.3(COG1):c.1070+199A>G	noncoding	Benign
17	73200425	G	A	G73200425A	COG1	NM_018714.3(COG1):c.1071-141G>A	noncoding	Benign
17	73200938	C	T	C73200938T	COG1	NM_018714.3(COG1):c.1281+162C>T	noncoding	Benign
17	73205792	G	A	G73205792A	COG1	NM_018714.3(COG1):c.2510+112G>A	noncoding	Benign
17	73205817	G	A	G73205817A	COG1	NM_018714.3(COG1):c.2510+137G>A	noncoding	Benign
17	73206292	G	A	G73206292A	COG1	NM_018714.3(COG1):c.2619+30G>A	noncoding	Benign
17	73206579	T	C	T73206579C	COG1	NM_018714.3(COG1):c.2620-129T>C	noncoding	Benign
17	73208144	C	T	C73208144T	COG1	NM_018714.3(COG1):c.2806-170C>T	coding	Benign
17	73208301	C	T	C73208301T	COG1	NM_001098832.2(FAM104A):c.*1228G>A	coding	Benign/Likely_benign
17	73430517	G	T	G73430517T	SDK2	NM_001144952.2(SDK2):c.1577C>A:p.Thr526Asn	coding	Benign
17	73430531	G	A	G73430531A	SDK2	NM_001144952.2(SDK2):c.1563C>T:p.His521=	coding	Benign
17	74281740	A	G	A74281740G	DNAI2	NM_023036.6(DNAI2):c.-11-67A>G	noncoding	Benign
17	74281838	C	G	C74281838G	DNAI2	NM_023036.6(DNAI2):c.21C>G:p.Tyr7Ter	coding	Pathogenic
17	74285420	A	G	A74285420G	DNAI2	NM_023036.6(DNAI2):c.345+219A>G	noncoding	Benign
17	74287175	G	T	G74287175T	DNAI2	NM_023036.6(DNAI2):c.467+77G>T	noncoding	Benign
17	74299691	C	T	C74299691T	DNAI2	NM_023036.6(DNAI2):c.725-27C>T	noncoding	Benign/Likely_benign
17	74299725	G	A	G74299725A	DNAI2	NM_023036.6(DNAI2):c.732G>A:p.Trp244Ter	coding	Pathogenic
17	74299732	C	T	C74299732T	DNAI2	NM_023036.6(DNAI2):c.739C>T:p.Arg247Ter	coding	Pathogenic
17	74300965	C	T	C74300965T	DNAI2	NM_023036.6(DNAI2):c.865-81C>T	noncoding	Benign
17	74300980	G	A	G74300980A	DNAI2	NM_023036.6(DNAI2):c.865-66G>A	noncoding	Benign
17	74301109	A	T	A74301109T	DNAI2	NM_023036.6(DNAI2):c.928A>T:p.Lys310Ter	coding	Pathogenic
17	74305047	G	T	G74305047T	DNAI2	NM_023036.6(DNAI2):c.988-172G>T	noncoding	Benign
17	74305569	C	T	C74305569T	DNAI2	NM_023036.6(DNAI2):c.1211+127C>T	noncoding	Benign
17	74309401	T	G	T74309401G	DNAI2	NM_023036.6(DNAI2):c.1347+13T>G	noncoding	Benign
17	74309549	T	C	T74309549C	DNAI2	NM_023036.6(DNAI2):c.1347+161T>C	noncoding	Benign
17	74309614	C	T	C74309614T	DNAI2	NM_023036.6(DNAI2):c.1347+226C>T	noncoding	Benign
17	74309654	C	T	C74309654T	DNAI2	NM_023036.6(DNAI2):c.1347+266C>T	noncoding	Benign
17	74309676	G	A	G74309676A	DNAI2	NM_023036.6(DNAI2):c.1347+288G>A	noncoding	Benign
17	74310076	C	A	C74310076A	DNAI2	NM_023036.6(DNAI2):c.1407C>A:p.Cys469Ter	coding	Pathogenic
17	74311950	G	A	G74311950A	DNAI2	NM_023036.6(DNAI2):c.1495-53G>A	noncoding	Benign
17	74312038	G	A	G74312038A	DNAI2	NM_023036.6(DNAI2):c.1530G>A:p.Leu510=	coding	Benign
17	74312308	G	A	G74312308A	DNAI2	NM_023036.6(DNAI2):c.1722+78G>A	noncoding	Benign
17	74313868	C	T	C74313868T	DNAI2	NM_023036.6(DNAI2):c.1723-253C>T	noncoding	Benign
17	74314193	G	T	G74314193T	DNAI2	NM_023036.6(DNAI2):c.1795G>T:p.Glu599Ter	coding	Pathogenic
17	74314337	G	A	G74314337A	DNAI2	NM_023036.6(DNAI2):c.*55+66G>A	noncoding	Benign
17	74342626	G	A	G74342626A	KIF19	NM_153209.4(KIF19):c.232-4G>A	noncoding	Benign
17	74346388	G	A	G74346388A	KIF19	NM_153209.4(KIF19):c.788G>A:p.Arg263His	coding	Pathogenic
17	74352266	T	G	T74352266G	KIF19	NM_153209.4(KIF19):c.1906T>G:p.Tyr636Asp	coding	Pathogenic
17	74748373	T	C	T74748373C	SLC9A3R1	Single_allele	noncoding	Benign
17	74748444	A	C	A74748444C	SLC9A3R1	Single_allele	noncoding	Benign
17	74748659	G	C	G74748659C	SLC9A3R1	NM_004252.5(SLC9A3R1):c.-188G>C	noncoding	Benign
17	74749278	C	T	C74749278T	SLC9A3R1	NM_004252.5(SLC9A3R1):c.432C>T:p.His144=	coding	Benign/Likely_benign
17	74749301	A	G	A74749301G	SLC9A3R1	NM_004252.5(SLC9A3R1):c.441+14A>G	noncoding	Benign
17	74762071	C	T	C74762071T	SLC9A3R1	NM_004252.5(SLC9A3R1):c.501C>T:p.Asn167=	coding	Benign
17	74762125	C	A	C74762125A	SLC9A3R1	NM_004252.5(SLC9A3R1):c.555C>A:p.Asp185Glu	coding	Benign
17	74763436	G	A	G74763436A	SLC9A3R1	NM_004252.5(SLC9A3R1):c.673G>A:p.Glu225Lys	coding	Benign/Likely_benign
17	74766614	A	G	A74766614G	SLC9A3R1	NM_004252.5(SLC9A3R1):c.758-322A>G	noncoding	Benign
17	74767970	A	G	A74767970G	SLC9A3R1	NM_004252.5(SLC9A3R1):c.799-177A>G	noncoding	Benign
17	74768249	T	C	T74768249C	SLC9A3R1	NM_004252.5(SLC9A3R1):c.888+13T>C	noncoding	Benign
17	74862587	G	A	G74862587A	FDXR	NM_024417.5(FDXR):c.*230C>T	noncoding	Benign
17	74862678	G	T	G74862678T	FDXR	NM_024417.5(FDXR):c.*139C>A	noncoding	Benign
17	74864531	G	A	G74864531A	FDXR	NM_024417.5(FDXR):c.751C>T:p.Arg251Trp	coding	Benign
17	74864532	G	A	G74864532A	FDXR	NM_024417.5(FDXR):c.750C>T:p.Ala250=	coding	Benign
17	74865023	A	G	A74865023G	FDXR	NM_024417.5(FDXR):c.610-92T>C	noncoding	Benign
17	74865707	C	A	C74865707A	FDXR	NM_024417.5(FDXR):c.609+12G>T	noncoding	Benign
17	74865858	G	A	G74865858A	FDXR	NM_024417.5(FDXR):c.508-38C>T	noncoding	Benign
17	74866583	G	A	G74866583A	FDXR	NM_024417.5(FDXR):c.271-15C>T	noncoding	Benign
17	74866757	C	G	C74866757G	FDXR	NM_024417.5(FDXR):c.270+27G>C	noncoding	Benign
17	74867137	T	C	T74867137C	FDXR	NM_024417.5(FDXR):c.178-261A>G	noncoding	Benign
17	74868624	G	A	G74868624A	FDXR	NM_024417.5(FDXR):c.178-1748C>T	coding	Benign
17	74868926	A	G	A74868926G	FDXR	NM_024417.5(FDXR):c.178-2050T>C	noncoding	Benign
17	74872981	A	G	A74872981G	FDXR	NM_024417.5(FDXR):c.-37T>C	noncoding	Benign
17	74873058	T	C	T74873058C	FDXR	Single_allele	noncoding	Benign
17	74918096	A	T	A74918096T	USH1G	NM_173477.5(USH1G):c.1383-20T>A	noncoding	Benign/Likely_benign
17	74918190	A	G	A74918190G	USH1G	NM_173477.5(USH1G):c.1383-114T>C	noncoding	Benign
17	74919463	T	A	T74919463A	USH1G	NM_173477.5(USH1G):c.1373A>T:p.Asp458Val	coding	Pathogenic/Likely_pathogenic
17	74919797	G	A	G74919797A	USH1G	NM_173477.5(USH1G):c.1039C>T:p.Gln347Ter	coding	Pathogenic
17	74920094	G	A	G74920094A	USH1G	NM_173477.5(USH1G):c.742C>T:p.Gln248Ter	coding	Pathogenic
17	74920108	G	T	G74920108T	USH1G	NM_173477.5(USH1G):c.728C>A:p.Ser243Ter	coding	Pathogenic
17	74920158	G	T	G74920158T	USH1G	NM_173477.5(USH1G):c.678C>A:p.Gly226=	coding	Benign/Likely_benign
17	74920645	C	T	C74920645T	USH1G	NM_173477.5(USH1G):c.191G>A:p.Trp64Ter	coding	Pathogenic
17	74958422	G	A	G74958422A	HID1	NM_030630.3(HID1):c.1297C>T:p.Arg433Trp	coding	Pathogenic
17	74962285	C	T	C74962285T	HID1	NM_030630.3(HID1):c.560G>A:p.Gly187Asp	coding	Pathogenic
17	75182862	C	T	C75182862T	SUMO2	NM_006937.4(SUMO2):c.-28G>A	noncoding	Benign
17	75208539	G	A	G75208539A	NUP85	NM_024844.5(NUP85):c.46G>A:p.Val16Met	coding	Benign
17	75209804	T	C	T75209804C	NUP85	NM_024844.5(NUP85):c.128-19T>C	noncoding	Benign
17	75209881	T	C	T75209881C	NUP85	NM_024844.5(NUP85):c.186T>C:p.Asp62=	coding	Benign
17	75212087	C	T	C75212087T	NUP85	NM_024844.5(NUP85):c.361+25C>T	noncoding	Benign
17	75213125	G	T	G75213125T	NUP85	NM_024844.5(NUP85):c.405+6G>T	noncoding	Benign
17	75225344	C	T	C75225344T	NUP85	NM_024844.5(NUP85):c.735C>T:p.Pro245=	coding	Benign
17	75225351	A	G	A75225351G	NUP85	NM_024844.5(NUP85):c.742A>G:p.Thr248Ala	coding	Benign
17	75225432	G	A	G75225432A	NUP85	NM_024844.5(NUP85):c.823G>A:p.Ala275Thr	coding	Benign
17	75231434	G	A	G75231434A	NUP85	NM_024844.5(NUP85):c.1178+11G>A	noncoding	Benign
17	75232006	T	C	T75232006C	NUP85	NM_024844.5(NUP85):c.1396+27T>C	noncoding	Benign
17	75232978	G	A	G75232978A	NUP85	NM_024844.5(NUP85):c.1514+10G>A	noncoding	Benign
17	75234684	G	A	G75234684A	NUP85	NM_024844.5(NUP85):c.1663G>A:p.Asp555Asn	coding	Benign
17	75234701	T	C	T75234701C	NUP85	NM_024844.5(NUP85):c.1680T>C:p.Leu560=	coding	Benign
17	75234761	C	T	C75234761T	NUP85	NM_024844.5(NUP85):c.1740C>T:p.Asp580=	coding	Benign
17	75261732	G	T	G75261732T	MRPS7	NM_015971.3(MRPS7):c.-169G>T	noncoding	Benign
17	75261947	C	T	C75261947T	MRPS7	NM_015971.4(MRPS7):c.47C>T:p.Ala16Val	coding	Benign/Likely_benign
17	75262012	G	T	G75262012T	MRPS7	NM_015971.4(MRPS7):c.83+29G>T	noncoding	Benign
17	75262120	G	T	G75262120T	MRPS7	NM_015971.4(MRPS7):c.83+137G>T	noncoding	Benign
17	75262398	C	T	C75262398T	MRPS7	NM_015971.4(MRPS7):c.84-99C>T	noncoding	Benign
17	75262489	C	T	C75262489T	MRPS7	NM_015971.4(MRPS7):c.84-8C>T	noncoding	Benign/Likely_benign
17	75263002	C	T	C75263002T	MRPS7	NM_015971.4(MRPS7):c.339+135C>T	noncoding	Benign
17	75265787	G	A	G75265787A	MRPS7	NM_015971.4(MRPS7):c.593G>A:p.Arg198Gln	coding	Benign/Likely_benign
17	75265839	C	T	C75265839T	MRPS7	NM_015971.4(MRPS7):c.645C>T:p.Asn215=	coding	Benign
17	75266212	T	C	T75266212C	MRPS7	NM_015971.4(MRPS7):c.*289T>C	noncoding	Benign
17	75273504	C	T	C75273504T	SLC25A19	NM_001126121.2(SLC25A19):c.910G>A:p.Glu304Lys	coding	Pathogenic
17	75273545	A	T	A75273545T	SLC25A19	NM_001126121.2(SLC25A19):c.869T>A:p.Leu290Gln	coding	Pathogenic
17	75277224	A	G	A75277224G	SLC25A19	NM_001126121.2(SLC25A19):c.774+129T>C	noncoding	Benign
17	75277382	A	T	A75277382T	SLC25A19	NM_001126121.2(SLC25A19):c.745T>A:p.Phe249Ile	coding	Pathogenic
17	75278100	T	C	T75278100C	SLC25A19	NM_001126121.2(SLC25A19):c.643+52A>G	noncoding	Benign
17	75278133	C	T	C75278133T	SLC25A19	NM_001126121.2(SLC25A19):c.643+19G>A	noncoding	Benign/Likely_benign
17	75278134	G	A	G75278134A	SLC25A19	NM_001126121.2(SLC25A19):c.643+18C>T	noncoding	Benign
17	75278219	C	G	C75278219G	SLC25A19	NM_001126121.2(SLC25A19):c.576G>C:p.Gln192His	coding	Pathogenic
17	75278477	G	A	G75278477A	SLC25A19	NM_001126121.2(SLC25A19):c.460-142C>T	noncoding	Benign
17	75278534	T	C	T75278534C	SLC25A19	NM_001126121.2(SLC25A19):c.460-199A>G	noncoding	Benign
17	75283619	C	T	C75283619T	SLC25A19	NM_001126121.2(SLC25A19):c.289-26G>A	noncoding	Benign
17	75286125	C	T	C75286125T	SLC25A19	NM_001126121.2(SLC25A19):c.288+179G>A	noncoding	Benign
17	75286218	C	T	C75286218T	SLC25A19	NM_001126121.2(SLC25A19):c.288+86G>A	noncoding	Benign
17	75286555	C	T	C75286555T	SLC25A19	NM_001126121.2(SLC25A19):c.132+78G>A	noncoding	Benign
17	75286689	C	T	C75286689T	SLC25A19	NM_001126121.2(SLC25A19):c.76G>A:p.Gly26Arg	coding	Pathogenic
17	75286881	C	A	C75286881A	SLC25A19	NM_001126121.2(SLC25A19):c.-38-79G>T	noncoding	Benign
17	75288686	C	A	C75288686A	SLC25A19	NM_001126121.2(SLC25A19):c.-128-95G>T	noncoding	Benign
17	75289253	G	C	G75289253C	SLC25A19	NM_001126121.2(SLC25A19):c.-129+101C>G	noncoding	Benign
17	75492713	C	T	C75492713T	TMEM94	NM_014738.6(TMEM94):c.1836C>T:p.Ile612=	coding	Benign
17	75493486	C	G	C75493486G	TMEM94	NM_014738.6(TMEM94):c.2087-5C>G	noncoding	Benign
17	75495282	A	G	A75495282G	TMEM94	NM_014738.6(TMEM94):c.2729-2A>G	noncoding	Pathogenic
17	75516282	C	T	C75516282T	TSEN54	Single_allele	noncoding	Benign
17	75516305	C	T	C75516305T	TSEN54	Single_allele	noncoding	Benign
17	75516913	G	T	G75516913T	TSEN54	NM_207346.3(TSEN54):c.221+3G>T	noncoding	Pathogenic
17	75517353	A	G	A75517353G	TSEN54	NM_207346.3(TSEN54):c.369+109A>G	noncoding	Benign
17	75517672	C	T	C75517672T	TSEN54	NM_207346.3(TSEN54):c.468+17C>T	noncoding	Benign
17	75517786	G	A	G75517786A	TSEN54	NM_207346.3(TSEN54):c.468+131G>A	noncoding	Benign
17	75517913	C	T	C75517913T	TSEN54	NM_207346.3(TSEN54):c.468+258C>T	noncoding	Benign
17	75517915	C	T	C75517915T	TSEN54	NM_207346.3(TSEN54):c.468+260C>T	noncoding	Benign
17	75517933	A	G	A75517933G	TSEN54	NM_207346.3(TSEN54):c.468+278A>G	noncoding	Benign
17	75521345	A	G	A75521345G	TSEN54	NM_207346.3(TSEN54):c.522-64A>G	noncoding	Benign
17	75521856	C	T	C75521856T	TSEN54	NM_207346.3(TSEN54):c.775C>T:p.Gln259Ter	coding	Pathogenic
17	75522120	A	T	A75522120T	TSEN54	NM_207346.3(TSEN54):c.1039A>T:p.Lys347Ter	coding	Pathogenic/Likely_pathogenic
17	75522334	G	T	G75522334T	TSEN54	NM_207346.3(TSEN54):c.1252+1G>T	coding	Pathogenic
17	75523503	G	A	G75523503A	TSEN54	NM_207346.3(TSEN54):c.1314-160G>A	noncoding	Benign
17	75523587	G	A	G75523587A	TSEN54	NM_207346.3(TSEN54):c.1314-76G>A	noncoding	Benign
17	75524260	A	G	A75524260G	TSEN54	NM_207346.3(TSEN54):c.1431-2A>G	noncoding	Pathogenic
17	75631459	T	C	T75631459C	RECQL5	NM_004259.7(RECQL5):c.1439A>G:p.Asp480Gly	coding	Benign
17	75724820	A	G	A75724820G	ITGB4	NM_000213.5(ITGB4):c.79+38A>G	noncoding	Benign
17	75727159	G	A	G75727159A	ITGB4	NM_000213.5(ITGB4):c.80-36G>A	noncoding	Benign
17	75729217	C	T	C75729217T	ITGB4	NM_000213.5(ITGB4):c.567-48C>T	noncoding	Benign
17	75729220	C	T	C75729220T	ITGB4	NM_000213.5(ITGB4):c.567-45C>T	noncoding	Benign
17	75729223	C	G	C75729223G	ITGB4	NM_000213.5(ITGB4):c.567-42C>G	noncoding	Benign
17	75729399	G	T	G75729399T	ITGB4	NM_000213.5(ITGB4):c.701G>T:p.Gly234Val	coding	Pathogenic
17	75730349	C	T	C75730349T	ITGB4	NM_000213.5(ITGB4):c.847C>T:p.Arg283Cys	coding	Pathogenic
17	75730499	T	G	T75730499G	ITGB4	NM_000213.5(ITGB4):c.997T>G:p.Tyr333Asp	coding	Pathogenic
17	75731387	A	G	A75731387G	ITGB4	NM_000213.5(ITGB4):c.1215+19A>G	noncoding	Benign
17	75731838	C	A	C75731838A	ITGB4	NM_000213.5(ITGB4):c.1242C>A:p.Ala414=	coding	Benign
17	75731966	G	A	G75731966A	ITGB4	NM_000213.5(ITGB4):c.1370G>A:p.Cys457Tyr	coding	Pathogenic
17	75733212	C	T	C75733212T	ITGB4	NM_000213.5(ITGB4):c.1455-278C>T	noncoding	Benign
17	75735898	T	A	T75735898A	ITGB4	NM_000213.5(ITGB4):c.1658-153T>A	noncoding	Benign
17	75735944	C	T	C75735944T	ITGB4	NM_000213.5(ITGB4):c.1658-107C>T	noncoding	Benign
17	75735964	T	C	T75735964C	ITGB4	NM_000213.5(ITGB4):c.1658-87T>C	noncoding	Benign
17	75736441	T	G	T75736441G	ITGB4	NM_000213.5(ITGB4):c.1860+55T>G	noncoding	Benign
17	75736729	A	C	A75736729C	ITGB4	NM_000213.5(ITGB4):c.1990+35A>C	noncoding	Benign
17	75736982	A	C	A75736982C	ITGB4	NM_000213.5(ITGB4):c.1990+288A>C	noncoding	Benign
17	75737234	G	C	G75737234C	ITGB4	NM_000213.5(ITGB4):c.1991-88G>C	noncoding	Benign
17	75737343	G	C	G75737343C	ITGB4	NM_000213.5(ITGB4):c.2012G>C:p.Cys671Ser	coding	Pathogenic
17	75737439	A	G	A75737439G	ITGB4	NM_000213.5(ITGB4):c.2108A>G:p.Lys703Arg	coding	Benign/Likely_benign
17	75737853	A	G	A75737853G	ITGB4	NM_000213.5(ITGB4):c.2220+209A>G	noncoding	Benign
17	75737961	T	C	T75737961C	ITGB4	NM_000213.5(ITGB4):c.2220+317T>C	noncoding	Benign
17	75739655	C	T	C75739655T	ITGB4	NM_000213.5(ITGB4):c.2221-17C>T	noncoding	Benign
17	75739706	G	T	G75739706T	ITGB4	NM_000213.5(ITGB4):c.2254+1G>T	coding	Pathogenic
17	75739839	G	A	G75739839A	ITGB4	NM_000213.5(ITGB4):c.2255-41G>A	noncoding	Benign
17	75740231	G	C	G75740231C	ITGB4	NM_000213.5(ITGB4):c.2447-127G>C	noncoding	Benign
17	75740376	T	C	T75740376C	ITGB4	NM_000213.5(ITGB4):c.2465T>C:p.Leu822Ser	coding	Pathogenic
17	75740435	C	T	C75740435T	ITGB4	NM_000213.5(ITGB4):c.2524C>T:p.Gln842Ter	coding	Pathogenic
17	75740659	G	C	G75740659C	ITGB4	NM_000213.5(ITGB4):c.2551-134G>C	noncoding	Benign
17	75741006	G	A	G75741006A	ITGB4	NM_000213.5(ITGB4):c.2633+1G>A	coding	Pathogenic
17	75742534	T	C	T75742534C	ITGB4	NM_000213.5(ITGB4):c.2782+45T>C	noncoding	Benign
17	75742580	A	G	A75742580G	ITGB4	NM_000213.5(ITGB4):c.2783-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	75742779	G	C	G75742779C	ITGB4	NM_000213.5(ITGB4):c.2962+18G>C	noncoding	Benign
17	75742896	T	C	T75742896C	ITGB4	NM_000213.5(ITGB4):c.2962+135T>C	noncoding	Benign
17	75743040	A	G	A75743040G	ITGB4	NM_000213.5(ITGB4):c.2962+279A>G	noncoding	Benign
17	75743524	C	T	C75743524T	ITGB4	NM_000213.5(ITGB4):c.2963-189C>T	noncoding	Benign
17	75743790	C	T	C75743790T	ITGB4	NM_000213.5(ITGB4):c.3040C>T:p.Arg1014Trp	coding	Pathogenic
17	75749818	T	C	T75749818C	ITGB4	NM_000213.5(ITGB4):c.3317-293T>C	noncoding	Benign
17	75750065	T	C	T75750065C	ITGB4	NM_000213.5(ITGB4):c.3317-46T>C	noncoding	Benign
17	75750289	T	C	T75750289C	ITGB4	NM_000213.5(ITGB4):c.3474+21T>C	noncoding	Benign
17	75750346	A	G	A75750346G	ITGB4	NM_000213.5(ITGB4):c.3474+78A>G	noncoding	Benign
17	75750566	T	C	T75750566C	ITGB4	NM_000213.5(ITGB4):c.3475-114T>C	noncoding	Benign
17	75752027	C	T	C75752027T	ITGB4	NM_000213.5(ITGB4):c.3794-147C>T	noncoding	Benign
17	75752427	T	A	T75752427A	ITGB4	NM_000213.5(ITGB4):c.3977-19T>A	noncoding	Pathogenic
17	75753500	T	C	T75753500C	ITGB4	NM_000213.5(ITGB4):c.4109-265T>C	noncoding	Benign
17	75753517	G	T	G75753517T	ITGB4	NM_000213.5(ITGB4):c.4109-248G>T	noncoding	Benign
17	75753549	T	C	T75753549C	ITGB4	NM_000213.5(ITGB4):c.4109-216T>C	noncoding	Benign
17	75753582	G	T	G75753582T	ITGB4	NM_000213.5(ITGB4):c.4109-183G>T	noncoding	Benign
17	75755000	A	T	A75755000T	ITGB4	NM_000213.5(ITGB4):c.4558+185A>T	noncoding	Benign
17	75755197	G	A	G75755197A	ITGB4	NM_000213.5(ITGB4):c.4558+382G>A	coding	Benign
17	75755876	C	T	C75755876T	ITGB4	NM_000213.5(ITGB4):c.4708+26C>T	noncoding	Benign
17	75755909	T	A	T75755909A	ITGB4	NM_000213.5(ITGB4):c.4708+59T>A	noncoding	Benign
17	75756548	C	T	C75756548T	ITGB4	NM_000213.5(ITGB4):c.4828C>T:p.Arg1610Ter	coding	Pathogenic
17	75756908	G	C	G75756908C	ITGB4	NM_000213.5(ITGB4):c.5054-35G>C	noncoding	Benign
17	75756918	C	G	C75756918G	ITGB4	NM_000213.5(ITGB4):c.5054-25C>G	noncoding	Benign
17	75757119	T	C	T75757119C	ITGB4	NM_000213.5(ITGB4):c.5218+12T>C	noncoding	Benign
17	75757185	A	T	A75757185T	ITGB4	NM_000213.5(ITGB4):c.5219-15A>T	noncoding	Benign/Likely_benign
17	75757229	G	A	G75757229A	ITGB4	NM_000213.5(ITGB4):c.5248G>A:p.Gly1750Arg	coding	Benign
17	75757359	A	G	A75757359G	ITGB4	NM_000213.5(ITGB4):c.5329+49A>G	noncoding	Benign
17	75757559	C	T	C75757559T	GALK1;ITGB4	NM_000213.5(ITGB4):c.*4C>T	noncoding	Benign/Likely_benign
17	75758167	G	A	G75758167A	GALK1	NM_000154.2(GALK1):c.1108-40C>T	noncoding	Benign/Likely_benign
17	75758209	C	T	C75758209T	GALK1	NM_000154.2(GALK1):c.1107+1G>A	noncoding	Pathogenic
17	75758286	G	A	G75758286A	GALK1	NM_000154.2(GALK1):c.1031C>T:p.Thr344Met	coding	Pathogenic/Likely_pathogenic
17	75758725	A	G	A75758725G	GALK1	NM_000154.2(GALK1):c.794-126T>C	noncoding	Benign
17	75762996	G	A	G75762996A	GALK1	NM_000154.2(GALK1):c.611+18C>T	noncoding	Benign
17	75763111	G	A	G75763111A	GALK1	NM_000154.2(GALK1):c.514C>T:p.Gln172Ter	coding	Pathogenic
17	75763115	A	T	A75763115T	GALK1	NM_000154.2(GALK1):c.510T>A:p.Cys170Ter	coding	Pathogenic
17	75763223	G	T	G75763223T	GALK1	NM_000154.2(GALK1):c.476-74C>A	noncoding	Benign
17	75763471	G	A	G75763471A	GALK1	NM_000154.2(GALK1):c.356-32C>T	noncoding	Benign
17	75763987	G	A	G75763987A	GALK1	NM_000154.2(GALK1):c.265C>T:p.Gln89Ter	coding	Pathogenic
17	75764739	G	A	G75764739A	GALK1	NM_000154.2(GALK1):c.165+233C>T	noncoding	Benign
17	75765070	C	A	C75765070A	GALK1	NM_000154.2(GALK1):c.67G>T:p.Glu23Ter	coding	Pathogenic
17	75765315	T	C	T75765315C	GALK1	Single_allele	noncoding	Benign
17	75776919	C	T	C75776919T	H3-3B	NM_005324.5(H3-3B):c.*1676G>A	noncoding	Benign
17	75778641	G	C	G75778641C	H3-3B	NM_005324.5(H3-3B):c.365C>G:p.Pro122Arg	coding	Pathogenic
17	75778796	G	A	G75778796A	H3-3B	NM_005324.5(H3-3B):c.282+14C>T	noncoding	Benign
17	75778937	A	T	A75778937T	H3-3B	NM_005324.5(H3-3B):c.155T>A:p.Ile52Asn	coding	Pathogenic/Likely_pathogenic
17	75779072	C	T	C75779072T	H3-3B	NM_005324.5(H3-3B):c.103G>A:p.Gly35Arg	coding	Pathogenic
17	75779087	C	G	C75779087G	H3-3B	NM_005324.5(H3-3B):c.88G>C:p.Ala30Pro	coding	Pathogenic
17	75779144	A	G	A75779144G	H3-3B	NM_005324.5(H3-3B):c.31T>C:p.Ser11Pro	coding	Pathogenic
17	75828920	G	C	G75828920C	UNC13D	NM_199242.3(UNC13D):c.3018C>G:p.Tyr1006Ter	coding	Pathogenic
17	75828997	C	G	C75828997G	UNC13D	NM_199242.3(UNC13D):c.2955-14G>C	noncoding	Benign/Likely_benign
17	75830131	G	A	G75830131A	UNC13D	NM_199242.3(UNC13D):c.2851C>T:p.Gln951Ter	coding	Pathogenic
17	75830171	T	A	T75830171A	UNC13D	NM_199242.3(UNC13D):c.2831-20A>T	noncoding	Benign
17	75831079	G	A	G75831079A	UNC13D	NM_199242.3(UNC13D):c.2625+19C>T	noncoding	Benign
17	75831185	G	A	G75831185A	UNC13D	NM_199242.3(UNC13D):c.2554-16C>T	noncoding	Benign
17	75832947	G	A	G75832947A	UNC13D	NM_199242.3(UNC13D):c.2447+19C>T	noncoding	Benign
17	75834602	C	A	C75834602A	UNC13D	NM_199242.3(UNC13D):c.2091+16G>T	noncoding	Benign
17	75834965	C	T	C75834965T	UNC13D	NM_199242.3(UNC13D):c.1947G>A:p.Trp649Ter	coding	Pathogenic
17	75835450	C	A	C75835450A	UNC13D	NM_199242.3(UNC13D):c.1807G>T:p.Glu603Ter	coding	Pathogenic/Likely_pathogenic
17	75835465	G	A	G75835465A	UNC13D	NM_199242.3(UNC13D):c.1792C>T:p.Gln598Ter	coding	Pathogenic
17	75835762	G	A	G75835762A	UNC13D	NM_199242.3(UNC13D):c.1612C>T:p.Gln538Ter	coding	Pathogenic
17	75835763	C	T	C75835763T	UNC13D	NM_199242.3(UNC13D):c.1611G>A:p.Val537=	coding	Benign/Likely_benign
17	75835908	T	C	T75835908C	UNC13D	NM_199242.3(UNC13D):c.1545-2A>G	noncoding	Pathogenic
17	75836126	G	A	G75836126A	UNC13D	NM_199242.3(UNC13D):c.1447-17C>T	noncoding	Benign
17	75836362	G	A	G75836362A	UNC13D	NM_199242.3(UNC13D):c.1366C>T:p.Gln456Ter	coding	Pathogenic
17	75839838	C	T	C75839838T	UNC13D	NM_199242.3(UNC13D):c.1055+1G>A	noncoding	Pathogenic
17	75840050	G	A	G75840050A	UNC13D	NM_199242.3(UNC13D):c.919C>T:p.Gln307Ter	coding	Pathogenic/Likely_pathogenic
17	75840086	G	A	G75840086A	UNC13D	NM_199242.3(UNC13D):c.883C>T:p.Gln295Ter	coding	Pathogenic
17	75840266	G	A	G75840266A	UNC13D	NM_199242.3(UNC13D):c.817C>T:p.Arg273Ter	coding	Pathogenic
17	75840304	C	T	C75840304T	UNC13D	NM_199242.3(UNC13D):c.779G>A:p.Trp260Ter	coding	Pathogenic
17	75840509	G	A	G75840509A	UNC13D	NM_199242.3(UNC13D):c.751C>T:p.Gln251Ter	coding	Pathogenic
17	75840805	G	A	G75840805A	UNC13D	NM_199242.3(UNC13D):c.640C>T:p.Arg214Ter	coding	Pathogenic
17	75841003	T	A	T75841003A	UNC13D	NM_199242.3(UNC13D):c.570-2A>T	noncoding	Pathogenic
17	75841019	C	T	C75841019T	UNC13D	NM_199242.3(UNC13D):c.570-18G>A	noncoding	Benign
17	75841061	A	C	A75841061C	UNC13D	NM_199242.3(UNC13D):c.570-60T>G	noncoding	Benign
17	75842241	A	G	A75842241G	UNC13D	NM_199242.3(UNC13D):c.569+192T>C	noncoding	Benign
17	75842414	C	T	C75842414T	UNC13D	NM_199242.3(UNC13D):c.569+19G>A	noncoding	Benign
17	75842455	C	T	C75842455T	UNC13D	NM_199242.3(UNC13D):c.547G>A:p.Val183Ile	coding	Benign
17	75842735	G	A	G75842735A	UNC13D	NM_199242.3(UNC13D):c.388+122C>T	noncoding	Benign
17	75842925	T	A	T75842925A	UNC13D	NM_199242.3(UNC13D):c.322-2A>T	noncoding	Pathogenic
17	75844162	G	A	G75844162A	UNC13D	NM_199242.3(UNC13D):c.117+59C>T	noncoding	Benign
17	75844225	G	C	G75844225C	UNC13D	NM_199242.3(UNC13D):c.113C>G:p.Pro38Arg	coding	Benign
17	75846800	G	A	G75846800A	WBP2	NM_012478.4(WBP2):c.733-13C>T	noncoding	Benign
17	75846811	C	T	C75846811T	WBP2	NM_012478.4(WBP2):c.733-24G>A	noncoding	Benign
17	75846959	G	A	G75846959A	WBP2	NM_012478.4(WBP2):c.681C>T:p.Ala227=	coding	Benign
17	75847101	A	G	A75847101G	WBP2	NM_012478.4(WBP2):c.656-117T>C	noncoding	Benign
17	75847616	G	A	G75847616A	WBP2	NM_012478.4(WBP2):c.533-7C>T	noncoding	Benign/Likely_benign
17	75847686	G	A	G75847686A	WBP2	NM_012478.4(WBP2):c.533-77C>T	noncoding	Benign
17	75848667	A	G	A75848667G	WBP2	NM_012478.4(WBP2):c.305-5T>C	noncoding	Benign
17	75848670	G	T	G75848670T	WBP2	NM_012478.4(WBP2):c.305-8C>A	noncoding	Benign
17	75851532	A	G	A75851532G	WBP2	NM_012478.4(WBP2):c.168+36T>C	noncoding	Benign
17	75851717	G	A	G75851717A	WBP2	NM_012478.4(WBP2):c.60-41C>T	noncoding	Benign
17	75851718	G	A	G75851718A	WBP2	NM_012478.4(WBP2):c.60-42C>T	noncoding	Benign
17	75851799	C	T	C75851799T	WBP2	NM_012478.4(WBP2):c.60-123G>A	noncoding	Benign
17	75855032	C	A	C75855032A	WBP2	NM_012478.4(WBP2):c.59+207G>T	noncoding	Benign
17	75946895	G	A	G75946895A	ACOX1	NM_004035.7(ACOX1):c.1936-100C>T	noncoding	Benign
17	75948488	A	C	A75948488C	ACOX1	NM_004035.7(ACOX1):c.1729-31T>G	noncoding	Benign
17	75948515	T	G	T75948515G	ACOX1	NM_004035.7(ACOX1):c.1729-58A>C	noncoding	Benign
17	75949448	G	A	G75949448A	ACOX1	NM_004035.7(ACOX1):c.1584+47C>T	noncoding	Benign
17	75949664	T	C	T75949664C	ACOX1	NM_004035.7(ACOX1):c.1478+54A>G	noncoding	Benign
17	75950561	T	C	T75950561C	ACOX1	NM_004035.7(ACOX1):c.1298+213A>G	noncoding	Benign
17	75951371	C	T	C75951371T	ACOX1	NM_004035.7(ACOX1):c.1107+44G>A	noncoding	Benign
17	75953491	G	A	G75953491A	ACOX1	NM_004035.7(ACOX1):c.904C>T:p.Arg302Ter	coding	Pathogenic
17	75953837	G	A	G75953837A	ACOX1	NM_004035.7(ACOX1):c.775-217C>T	noncoding	Benign
17	75955783	T	C	T75955783C	ACOX1	NM_004035.7(ACOX1):c.658+45A>G	noncoding	Benign
17	75955935	G	C	G75955935C	ACOX1	NM_004035.7(ACOX1):c.551C>G:p.Ser184Ter	coding	Pathogenic
17	75956169	G	A	G75956169A	ACOX1	NM_004035.7(ACOX1):c.539-222C>T	noncoding	Benign
17	75957241	C	T	C75957241T	ACOX1	NM_004035.7(ACOX1):c.538+218G>A	noncoding	Benign
17	75957529	A	T	A75957529T	ACOX1	NM_004035.7(ACOX1):c.468T>A:p.Tyr156Ter	coding	Pathogenic
17	75957567	C	T	C75957567T	ACOX1	NM_004035.7(ACOX1):c.431-1G>A	coding	Pathogenic
17	75957776	A	G	A75957776G	ACOX1	NM_004035.7(ACOX1):c.431-210T>C	noncoding	Benign
17	75960287	G	A	G75960287A	ACOX1	NM_004035.7(ACOX1):c.358C>T:p.Gln120Ter	coding	Pathogenic
17	75960365	G	A	G75960365A	ACOX1	NM_004035.7(ACOX1):c.280C>T:p.Arg94Ter	coding	Pathogenic
17	75960656	C	A	C75960656A	ACOX1	NM_004035.7(ACOX1):c.270-281G>T	noncoding	Benign
17	75973754	C	T	C75973754T	ACOX1	NM_004035.7(ACOX1):c.269+4780G>A	coding	Benign/Likely_benign
17	75973872	A	G	A75973872G	ACOX1	NM_004035.7(ACOX1):c.269+4662T>C	noncoding	Benign
17	75974050	C	T	C75974050T	ACOX1	NM_004035.7(ACOX1):c.269+4484G>A	noncoding	Benign
17	75978306	A	G	A75978306G	ACOX1	NM_004035.7(ACOX1):c.269+228T>C	noncoding	Benign
17	75978713	C	A	C75978713A	ACOX1	NM_004035.7(ACOX1):c.110-20G>T	noncoding	Benign
17	75978805	T	C	T75978805C	ACOX1	NM_004035.7(ACOX1):c.110-112A>G	coding	Benign
17	75978865	T	C	T75978865C	ACOX1	NM_004035.7(ACOX1):c.109+100A>G	coding	Benign
17	75979390	C	T	C75979390T	ACOX1	NM_001113324.3(TEN1):c.-128C>T	noncoding	Benign/Likely_benign
17	75979728	C	T	C75979728T	ACOX1	NM_001113324.3(TEN1):c.-7+217C>T	noncoding	Benign
17	76101230	G	C	G76101230C	EXOC7	NM_001013839.4(EXOC7):c.417+41C>G	coding	Benign
17	76137164	C	T	C76137164T	FOXJ1	NM_001454.4(FOXJ1):c.*189G>A	noncoding	Benign
17	76137893	C	T	C76137893T	FOXJ1	NM_001454.4(FOXJ1):c.726G>A:p.Thr242=	coding	Benign
17	76140737	C	G	C76140737G	FOXJ1	NM_001454.4(FOXJ1):c.-169-173G>C	noncoding	Benign
17	76279079	C	T	C76279079T	QRICH2	NM_001388453.1(QRICH2):c.4878G>A:p.Thr1626=	coding	Benign
17	76279986	C	T	C76279986T	QRICH2	NM_001388453.1(QRICH2):c.4748+47G>A	noncoding	Benign
17	76290092	A	G	A76290092G	QRICH2	NM_001388453.1(QRICH2):c.3713-15T>C	noncoding	Benign
17	76472470	A	G	A76472470G	RHBDF2	NM_001005498.4(RHBDF2):c.2064+216T>C	noncoding	Benign
17	76473918	A	T	A76473918T	RHBDF2	NM_001005498.4(RHBDF2):c.1575-16T>A	noncoding	Benign
17	76475148	A	G	A76475148G	RHBDF2	NM_001005498.4(RHBDF2):c.1116-7T>C	noncoding	Benign
17	76475216	G	A	G76475216A	RHBDF2	NM_001005498.4(RHBDF2):c.1116-75C>T	noncoding	Benign
17	76476950	G	A	G76476950A	RHBDF2	NM_001005498.4(RHBDF2):c.995C>T:p.Ala332Val	coding	Benign
17	76479327	G	A	G76479327A	RHBDF2	NM_001005498.4(RHBDF2):c.273-50C>T	noncoding	Benign
17	76479963	G	C	G76479963C	RHBDF2	NM_001005498.4(RHBDF2):c.151-109C>G	noncoding	Benign
17	76481096	G	A	G76481096A	RHBDF2	NM_001005498.4(RHBDF2):c.150+279C>T	noncoding	Benign
17	76481258	A	G	A76481258G	RHBDF2	NM_001005498.4(RHBDF2):c.150+117T>C	noncoding	Benign
17	76481609	C	T	C76481609T	RHBDF2	NM_001005498.4(RHBDF2):c.-21-64G>A	noncoding	Benign
17	76540190	C	T	C76540190T	PRCD	NM_001077620.3(PRCD):c.49C>T:p.Arg17Cys	coding	Benign/Likely_benign
17	76540211	C	T	C76540211T	PRCD	NM_001077620.3(PRCD):c.70C>T:p.Gln24Ter	coding	Pathogenic
17	76540216	G	A	G76540216A	PRCD	NM_001077620.3(PRCD):c.74+1G>A	coding	Pathogenic/Likely_pathogenic
17	76540251	C	G	C76540251G	PRCD	NM_001077620.3(PRCD):c.74+36C>G	noncoding	Benign
17	76540574	G	A	G76540574A	CYGB;PRCD	NM_001077620.3(PRCD):c.143+1G>A	coding	Pathogenic
17	76543010	C	T	C76543010T	PRCD	NM_001077620.3(PRCD):c.*60-19C>T	noncoding	Benign
17	77281348	C	G	C77281348G	SEPTIN9	Single_allele	noncoding	Benign
17	77281351	T	G	T77281351G	SEPTIN9	Single_allele	noncoding	Benign
17	77281386	G	T	G77281386T	SEPTIN9	Single_allele	noncoding	Benign
17	77281529	A	C	A77281529C	SEPTIN9	NM_001113491.2(SEPTIN9):c.-7A>C	noncoding	Benign
17	77307020	G	A	G77307020A	SEPTIN9	NM_001113491.2(SEPTIN9):c.20-121G>A	noncoding	Benign
17	77307420	G	A	G77307420A	SEPTIN9	NM_001113491.2(SEPTIN9):c.76+223G>A	noncoding	Benign
17	77319217	T	C	T77319217C	SEPTIN9	NM_001113491.2(SEPTIN9):c.76+12020T>C	noncoding	Benign
17	77320365	C	G	C77320365G	SEPTIN9	NM_001113491.2(SEPTIN9):c.76+13168C>G	noncoding	Benign
17	77320368	C	T	C77320368T	SEPTIN9	NM_001113491.2(SEPTIN9):c.76+13171C>T	noncoding	Benign/Likely_benign
17	77320415	C	T	C77320415T	SEPTIN9	NM_001113491.2(SEPTIN9):c.76+13218C>T	noncoding	Benign
17	77373475	C	T	C77373475T	SEPTIN9	NM_001113491.2(SEPTIN9):c.77-28584C>T	coding	Benign
17	77402575	C	T	C77402575T	SEPTIN9	NM_001113491.2(SEPTIN9):c.593C>T:p.Ala198Val	coding	Benign
17	77402710	C	T	C77402710T	SEPTIN9	NM_001113491.2(SEPTIN9):c.721+7C>T	noncoding	Benign
17	77474947	G	A	G77474947A	SEPTIN9	NM_001113491.2(SEPTIN9):c.722-7197G>A	noncoding	Benign
17	77475151	G	A	G77475151A	SEPTIN9	NM_001113491.2(SEPTIN9):c.722-6993G>A	noncoding	Benign
17	77475165	G	A	G77475165A	SEPTIN9	NM_001113491.2(SEPTIN9):c.722-6979G>A	noncoding	Benign
17	77475577	G	T	G77475577T	SEPTIN9	NM_001113491.2(SEPTIN9):c.722-6567G>T	coding	Benign
17	77475680	G	A	G77475680A	SEPTIN9	NM_001113491.2(SEPTIN9):c.722-6464G>A	coding	Benign
17	77475927	G	A	G77475927A	SEPTIN9	NM_001113491.2(SEPTIN9):c.722-6217G>A	noncoding	Benign
17	77482154	G	A	G77482154A	SEPTIN9	NM_001113491.2(SEPTIN9):c.732G>A:p.Ala244=	coding	Benign
17	77482250	C	T	C77482250T	SEPTIN9	NM_001113491.2(SEPTIN9):c.828C>T:p.Phe276=	coding	Benign
17	77482399	C	T	C77482399T	SEPTIN9	NM_001113491.2(SEPTIN9):c.913+64C>T	noncoding	Benign
17	77482589	G	A	G77482589A	SEPTIN9	NM_001113491.2(SEPTIN9):c.913+254G>A	noncoding	Benign
17	77482612	T	C	T77482612C	SEPTIN9	NM_001113491.2(SEPTIN9):c.913+277T>C	noncoding	Benign
17	77487379	G	A	G77487379A	SEPTIN9	NM_001113491.2(SEPTIN9):c.914-45G>A	noncoding	Benign
17	77487594	C	A	C77487594A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1042+42C>A	noncoding	Benign
17	77487991	T	C	T77487991C	SEPTIN9	NM_001113491.2(SEPTIN9):c.1043-249T>C	noncoding	Benign
17	77488074	C	T	C77488074T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1043-166C>T	noncoding	Benign
17	77488370	C	G	C77488370G	SEPTIN9	NM_001113491.2(SEPTIN9):c.1124+49C>G	noncoding	Benign
17	77488453	A	G	A77488453G	SEPTIN9	NM_001113491.2(SEPTIN9):c.1124+132A>G	noncoding	Benign
17	77488618	A	G	A77488618G	SEPTIN9	NM_001113491.2(SEPTIN9):c.1125-109A>G	noncoding	Benign
17	77488674	G	A	G77488674A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1125-53G>A	noncoding	Benign
17	77488699	T	C	T77488699C	SEPTIN9	NM_001113491.2(SEPTIN9):c.1125-28T>C	noncoding	Benign
17	77488700	G	A	G77488700A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1125-27G>A	noncoding	Benign
17	77488710	C	A	C77488710A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1125-17C>A	noncoding	Benign/Likely_benign
17	77488823	C	T	C77488823T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1221C>T:p.Arg407=	coding	Benign
17	77488877	A	G	A77488877G	SEPTIN9	NM_001113491.2(SEPTIN9):c.1262+13A>G	noncoding	Benign
17	77488883	G	A	G77488883A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1262+19G>A	noncoding	Benign/Likely_benign
17	77488932	A	C	A77488932C	SEPTIN9	NM_001113491.2(SEPTIN9):c.1262+68A>C	noncoding	Benign
17	77489047	C	T	C77489047T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1262+183C>T	noncoding	Benign
17	77490559	C	T	C77490559T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1263-183C>T	noncoding	Benign
17	77490599	C	T	C77490599T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1263-143C>T	noncoding	Benign
17	77490607	G	T	G77490607T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1263-135G>T	noncoding	Benign
17	77490724	C	A	C77490724A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1263-18C>A	noncoding	Benign
17	77491095	A	G	A77491095G	SEPTIN9	NM_001113491.2(SEPTIN9):c.1380+236A>G	noncoding	Benign
17	77491120	G	C	G77491120C	SEPTIN9	NM_001113491.2(SEPTIN9):c.1380+261G>C	noncoding	Benign
17	77492463	G	A	G77492463A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1381-158G>A	noncoding	Benign
17	77492623	C	T	C77492623T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1383C>T:p.Ile461=	coding	Benign
17	77492692	C	G	C77492692G	SEPTIN9	NM_001113491.2(SEPTIN9):c.1452C>G:p.Asp484Glu	coding	Benign
17	77492746	A	G	A77492746G	SEPTIN9	NM_001113491.2(SEPTIN9):c.1476+30A>G	noncoding	Benign
17	77492891	C	T	C77492891T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1477-89C>T	noncoding	Benign
17	77492933	T	C	T77492933C	SEPTIN9	NM_001113491.2(SEPTIN9):c.1477-47T>C	noncoding	Benign
17	77493097	G	A	G77493097A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1573+21G>A	noncoding	Benign
17	77493134	C	T	C77493134T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1573+58C>T	noncoding	Benign
17	77493162	A	G	A77493162G	SEPTIN9	NM_001113491.2(SEPTIN9):c.1573+86A>G	noncoding	Benign
17	77497375	C	G	C77497375G	SEPTIN9	NM_001113491.2(SEPTIN9):c.1625+9C>G	noncoding	Benign
17	77497603	A	G	A77497603G	SEPTIN9	NM_001113491.2(SEPTIN9):c.1625+237A>G	noncoding	Benign
17	77498187	T	C	T77498187C	SEPTIN9	NM_001113491.2(SEPTIN9):c.1626-336T>C	noncoding	Benign
17	77498297	G	A	G77498297A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1626-226G>A	noncoding	Benign
17	77498475	A	C	A77498475C	SEPTIN9	NM_001113491.2(SEPTIN9):c.1626-48A>C	noncoding	Benign
17	77498480	G	C	G77498480C	SEPTIN9	NM_001113491.2(SEPTIN9):c.1626-43G>C	noncoding	Benign
17	77498482	T	C	T77498482C	SEPTIN9	NM_001113491.2(SEPTIN9):c.1626-41T>C	noncoding	Benign
17	77498502	G	C	G77498502C	SEPTIN9	NM_001113491.2(SEPTIN9):c.1626-21G>C	noncoding	Benign
17	77498505	C	T	C77498505T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1626-18C>T	noncoding	Benign
17	77498619	C	T	C77498619T	SEPTIN9	NM_001113491.2(SEPTIN9):c.1722C>T:p.Asn574=	coding	Benign
17	77498682	A	T	A77498682T	SEPTIN9	NM_001113491.2(SEPTIN9):c.*24A>T	noncoding	Benign
17	78112992	C	T	C78112992T	TMC6	NM_001127198.5(TMC6):c.*156G>A	noncoding	Benign
17	78113277	G	A	G78113277A	TMC6	NM_001127198.5(TMC6):c.2355-66C>T	noncoding	Benign
17	78117335	G	T	G78117335T	TMC6	NM_001127198.5(TMC6):c.2211C>A:p.Tyr737Ter	coding	Pathogenic
17	78117633	G	T	G78117633T	TMC6	NM_001127198.5(TMC6):c.2033C>A:p.Ser678Ter	coding	Pathogenic
17	78117658	C	T	C78117658T	TMC6	NM_001127198.5(TMC6):c.2022-14G>A	noncoding	Benign
17	78117873	G	A	G78117873A	TMC6	NM_001127198.5(TMC6):c.1950C>T:p.Thr650=	coding	Benign
17	78117948	G	C	G78117948C	TMC6	NM_001127198.5(TMC6):c.1888-13C>G	noncoding	Benign
17	78118020	G	A	G78118020A	TMC6	NM_001127198.5(TMC6):c.1888-85C>T	noncoding	Benign
17	78118773	A	G	A78118773G	TMC6	NM_001127198.5(TMC6):c.1887+198T>C	noncoding	Benign
17	78118860	C	T	C78118860T	TMC6	NM_001127198.5(TMC6):c.1887+111G>A	noncoding	Benign
17	78118882	C	G	C78118882G	TMC6	NM_001127198.5(TMC6):c.1887+89G>C	noncoding	Benign
17	78118894	G	T	G78118894T	TMC6	NM_001127198.5(TMC6):c.1887+77C>A	noncoding	Benign
17	78119100	A	T	A78119100T	TMC6	NM_001127198.5(TMC6):c.1812-54T>A	noncoding	Benign
17	78119220	G	A	G78119220A	TMC6	NM_001127198.5(TMC6):c.1811+77C>T	noncoding	Benign
17	78119272	T	C	T78119272C	TMC6	NM_001127198.5(TMC6):c.1811+25A>G	noncoding	Benign
17	78120837	G	A	G78120837A	TMC6	NM_001127198.5(TMC6):c.1536-5C>T	noncoding	Benign
17	78121184	G	A	G78121184A	TMC6	NM_001127198.5(TMC6):c.1384-20C>T	noncoding	Benign
17	78121280	T	C	T78121280C	TMC6	NM_001127198.5(TMC6):c.1384-116A>G	noncoding	Benign
17	78121320	A	G	A78121320G	TMC6	NM_001127198.5(TMC6):c.1384-156T>C	noncoding	Benign
17	78121420	A	G	A78121420G	TMC6	NM_001127198.5(TMC6):c.1383+136T>C	noncoding	Benign
17	78121436	G	A	G78121436A	TMC6	NM_001127198.5(TMC6):c.1383+120C>T	noncoding	Benign
17	78121890	G	A	G78121890A	TMC6	NM_001127198.5(TMC6):c.1228-179C>T	noncoding	Benign
17	78122342	C	T	C78122342T	TMC6	NM_001127198.5(TMC6):c.1227+263G>A	noncoding	Benign
17	78122372	G	C	G78122372C	TMC6	NM_001127198.5(TMC6):c.1227+233C>G	noncoding	Benign
17	78122373	C	T	C78122373T	TMC6	NM_001127198.5(TMC6):c.1227+232G>A	noncoding	Benign
17	78122408	G	A	G78122408A	TMC6	NM_001127198.5(TMC6):c.1227+197C>T	noncoding	Benign
17	78122474	G	A	G78122474A	TMC6	NM_001127198.5(TMC6):c.1227+131C>T	noncoding	Benign
17	78122655	G	A	G78122655A	TMC6	NM_001127198.5(TMC6):c.1177C>T:p.Gln393Ter	coding	Pathogenic
17	78122753	G	C	G78122753C	TMC6	NM_001127198.5(TMC6):c.1083-4C>G	noncoding	Benign
17	78122806	G	C	G78122806C	TMC6	NM_001127198.5(TMC6):c.1083-57C>G	noncoding	Benign
17	78123014	G	A	G78123014A	TMC6	NM_001127198.5(TMC6):c.1083-265C>T	noncoding	Benign
17	78123736	C	A	C78123736A	TMC6	NM_001127198.5(TMC6):c.1082+253G>T	noncoding	Benign
17	78123849	T	C	T78123849C	TMC6	NM_001127198.5(TMC6):c.1082+140A>G	noncoding	Benign
17	78123984	A	G	A78123984G	TMC6	NM_001127198.5(TMC6):c.1082+5T>C	noncoding	Benign
17	78124507	T	C	T78124507C	TMC6	NM_001127198.5(TMC6):c.891+17A>G	noncoding	Benign
17	78124569	C	T	C78124569T	TMC6	NM_001127198.5(TMC6):c.846G>A:p.Pro282=	coding	Benign
17	78124671	G	T	G78124671T	TMC6	NM_001127198.5(TMC6):c.744C>A:p.Tyr248Ter	coding	Pathogenic
17	78124873	G	A	G78124873A	TMC6	NM_001127198.5(TMC6):c.633+16C>T	noncoding	Benign
17	78124923	G	A	G78124923A	TMC6	NM_001127198.5(TMC6):c.599C>T:p.Ser200Phe	coding	Benign
17	78124950	C	T	C78124950T	TMC6	NM_001127198.5(TMC6):c.572G>A:p.Gly191Asp	coding	Benign
17	78125477	G	A	G78125477A	TMC6	NM_001127198.5(TMC6):c.431-214C>T	noncoding	Benign
17	78125700	T	A	T78125700A	TMC6	NM_001127198.5(TMC6):c.430+26A>T	noncoding	Benign
17	78125709	A	G	A78125709G	TMC6	NM_001127198.5(TMC6):c.430+17T>C	noncoding	Benign
17	78125997	T	C	T78125997C	TMC6	NM_001127198.5(TMC6):c.272-113A>G	noncoding	Benign
17	78126139	A	G	A78126139G	TMC6	NM_001127198.5(TMC6):c.271+138T>C	noncoding	Benign
17	78126358	G	A	G78126358A	TMC6	NM_001127198.5(TMC6):c.190C>T:p.Gln64Ter	coding	Pathogenic
17	78126666	G	A	G78126666A	TMC6	NM_001127198.5(TMC6):c.57-18C>T	noncoding	Benign
17	78130995	G	T	G78130995T	TMC8	NM_152468.5(TMC8):c.-309+144G>T	noncoding	Benign
17	78131350	G	C	G78131350C	TMC8	NM_152468.5(TMC8):c.-239G>C	noncoding	Benign
17	78131402	C	T	C78131402T	TMC8	NM_152468.5(TMC8):c.-187C>T	noncoding	Benign
17	78131657	G	A	G78131657A	TMC8	NM_152468.5(TMC8):c.69G>A:p.Glu23_Ala24=	coding	Benign
17	78131665	T	C	T78131665C	TMC8	NM_152468.5(TMC8):c.77T>C:p.Met26Thr	coding	Benign
17	78132145	C	G	C78132145G	TMC8	NM_152468.5(TMC8):c.298+115C>G	noncoding	Benign
17	78132279	G	A	G78132279A	TMC8	NM_152468.5(TMC8):c.299-80G>A	noncoding	Benign
17	78132305	G	C	G78132305C	TMC8	NM_152468.5(TMC8):c.299-54G>C	noncoding	Benign
17	78132581	G	C	G78132581C	TMC8	NM_152468.5(TMC8):c.448+73G>C	noncoding	Benign
17	78132953	C	T	C78132953T	TMC8	NM_152468.5(TMC8):c.531+83C>T	noncoding	Benign
17	78133258	C	A	C78133258A	TMC8	NM_152468.5(TMC8):c.532-148C>A	noncoding	Benign
17	78133261	T	C	T78133261C	TMC8	NM_152468.5(TMC8):c.532-145T>C	noncoding	Benign
17	78133279	C	T	C78133279T	TMC8	NM_152468.5(TMC8):c.532-127C>T	noncoding	Benign
17	78133442	C	T	C78133442T	TMC8	NM_152468.5(TMC8):c.568C>T:p.Arg190Ter	coding	Pathogenic
17	78133542	G	A	G78133542A	TMC8	NM_152468.5(TMC8):c.668G>A:p.Arg223Gln	coding	Benign
17	78133555	T	C	T78133555C	TMC8	NM_152468.5(TMC8):c.668+13T>C	noncoding	Benign
17	78133822	C	T	C78133822T	TMC8	NM_152468.5(TMC8):c.669-31C>T	noncoding	Benign
17	78133829	A	C	A78133829C	TMC8	NM_152468.5(TMC8):c.669-24A>C	noncoding	Benign
17	78133998	A	G	A78133998G	TMC8	NM_152468.5(TMC8):c.814A>G:p.Lys272Glu	coding	Benign
17	78134183	G	A	G78134183A	TMC8	NM_152468.5(TMC8):c.816+183G>A	noncoding	Benign
17	78134501	C	T	C78134501T	TMC8	NM_152468.5(TMC8):c.924C>T:p.Leu308=	coding	Benign
17	78134866	G	T	G78134866T	TMC8	NM_152468.5(TMC8):c.988-4G>T	noncoding	Benign
17	78134966	G	T	G78134966T	TMC8	NM_152468.5(TMC8):c.1084G>T:p.Glu362Ter	coding	Pathogenic
17	78135166	G	A	G78135166A	TMC8	NM_152468.5(TMC8):c.1127+157G>A	noncoding	Benign
17	78137612	C	T	C78137612T	TMC8	NM_152468.5(TMC8):c.1252-105C>T	noncoding	Benign
17	78137665	A	G	A78137665G	TMC8	NM_152468.5(TMC8):c.1252-52A>G	noncoding	Benign
17	78137827	G	A	G78137827A	TMC8	NM_152468.5(TMC8):c.1349+13G>A	noncoding	Benign
17	78137989	C	G	C78137989G	TMC8	NM_152468.5(TMC8):c.1350-16C>G	noncoding	Benign
17	78137991	T	G	T78137991G	TMC8	NM_152468.5(TMC8):c.1350-14T>G	noncoding	Benign
17	78138326	G	A	G78138326A	TMC8	NM_152468.5(TMC8):c.1534-23G>A	noncoding	Benign
17	78138555	C	T	C78138555T	TMC8	NM_152468.5(TMC8):c.1665-19C>T	noncoding	Benign
17	78138638	G	T	G78138638T	TMC8	NM_152468.5(TMC8):c.1729G>T:p.Glu577Ter	coding	Pathogenic
17	78138752	C	G	C78138752G	TMC8	NM_152468.5(TMC8):c.1823+20C>G	noncoding	Benign
17	78139067	G	T	G78139067T	TMC8	NM_152468.5(TMC8):c.1824-95G>T	noncoding	Benign
17	78139321	G	A	G78139321A	TMC8	NM_152468.5(TMC8):c.1902+81G>A	noncoding	Benign
17	78139331	G	T	G78139331T	TMC8	NM_152468.5(TMC8):c.1902+91G>T	noncoding	Benign
17	78140631	G	A	G78140631A	TMC8	NM_152468.5(TMC8):c.1903-203G>A	noncoding	Benign
17	78140634	T	C	T78140634C	TMC8	NM_152468.5(TMC8):c.1903-200T>C	noncoding	Benign
17	78141117	T	G	T78141117G	TMC8	NM_152468.5(TMC8):c.*5T>G	noncoding	Benign
17	78141256	C	G	C78141256G	TMC8	NM_152468.5(TMC8):c.*144C>G	noncoding	Benign
17	78358688	G	T	G78358688T	SOCS3	NM_003955.5(SOCS3):c.408C>A:p.Phe136Leu	coding	Benign
17	78423801	G	A	G78423801A	DNAH17	NM_173628.4(DNAH17):c.*105C>T	noncoding	Benign
17	78424004	T	C	T78424004C	DNAH17	NM_173628.4(DNAH17):c.13291A>G:p.Ile4431Val	coding	Benign
17	78424292	G	A	G78424292A	DNAH17	NM_173628.4(DNAH17):c.13142-139C>T	coding	Benign
17	78424312	G	A	G78424312A	DNAH17	NM_173628.4(DNAH17):c.13142-159C>T	coding	Benign
17	78424356	T	A	T78424356A	DNAH17	NM_173628.4(DNAH17):c.13142-203A>T	coding	Benign
17	78425628	C	A	C78425628A	DNAH17	NM_173628.4(DNAH17):c.12916-57G>T	noncoding	Benign
17	78425714	C	G	C78425714G	DNAH17	NM_173628.4(DNAH17):c.12916-143G>C	noncoding	Benign
17	78425732	A	G	A78425732G	DNAH17	NM_173628.4(DNAH17):c.12916-161T>C	noncoding	Benign
17	78426291	T	C	T78426291C	DNAH17	NM_173628.4(DNAH17):c.12915+166A>G	noncoding	Benign
17	78426392	T	C	T78426392C	DNAH17	NM_173628.4(DNAH17):c.12915+65A>G	noncoding	Benign
17	78426791	A	C	A78426791C	DNAH17	NM_173628.4(DNAH17):c.12771+135T>G	noncoding	Benign
17	78426822	A	G	A78426822G	DNAH17	NM_173628.4(DNAH17):c.12771+104T>C	noncoding	Benign
17	78426852	G	C	G78426852C	DNAH17	NM_173628.4(DNAH17):c.12771+74C>G	noncoding	Benign
17	78427277	T	C	T78427277C	DNAH17	NM_173628.4(DNAH17):c.12589-169A>G	noncoding	Benign
17	78428401	A	G	A78428401G	DNAH17	NM_173628.4(DNAH17):c.12588+124T>C	noncoding	Benign
17	78428421	C	G	C78428421G	DNAH17	NM_173628.4(DNAH17):c.12588+104G>C	noncoding	Benign
17	78428861	T	C	T78428861C	DNAH17	NM_173628.4(DNAH17):c.12406-154A>G	noncoding	Benign
17	78429095	G	A	G78429095A	DNAH17	NM_173628.4(DNAH17):c.12405+26C>T	noncoding	Benign
17	78429319	G	A	G78429319A	DNAH17	NM_173628.4(DNAH17):c.12226-19C>T	noncoding	Benign
17	78429399	A	T	A78429399T	DNAH17	NM_173628.4(DNAH17):c.12226-99T>A	noncoding	Benign
17	78429409	T	C	T78429409C	DNAH17	NM_173628.4(DNAH17):c.12226-109A>G	noncoding	Benign
17	78429410	G	A	G78429410A	DNAH17	NM_173628.4(DNAH17):c.12226-110C>T	noncoding	Benign
17	78429489	T	C	T78429489C	DNAH17	NM_173628.4(DNAH17):c.12226-189A>G	noncoding	Benign
17	78429501	G	A	G78429501A	DNAH17	NM_173628.4(DNAH17):c.12226-201C>T	noncoding	Benign
17	78437603	A	G	A78437603G	DNAH17	NM_173628.4(DNAH17):c.12033+38T>C	noncoding	Benign
17	78439366	C	T	C78439366T	DNAH17	NM_173628.4(DNAH17):c.11678-149G>A	noncoding	Benign
17	78441261	G	A	G78441261A	DNAH17	NM_173628.4(DNAH17):c.11529-62C>T	noncoding	Benign
17	78441351	C	T	C78441351T	DNAH17	NM_173628.4(DNAH17):c.11529-152G>A	noncoding	Benign
17	78444570	G	A	G78444570A	DNAH17	NM_173628.4(DNAH17):c.11528+34C>T	noncoding	Benign
17	78444590	G	A	G78444590A	DNAH17	NM_173628.4(DNAH17):c.11528+14C>T	noncoding	Benign
17	78445748	G	T	G78445748T	DNAH17	NM_173628.4(DNAH17):c.11212-68C>A	noncoding	Benign
17	78449540	A	G	A78449540G	DNAH17	NM_173628.4(DNAH17):c.11085T>C:p.Pro3695=	coding	Benign
17	78449616	G	A	G78449616A	DNAH17	NM_173628.4(DNAH17):c.11041-32C>T	noncoding	Benign
17	78449647	C	T	C78449647T	DNAH17	NM_173628.4(DNAH17):c.11041-63G>A	noncoding	Benign
17	78450243	G	T	G78450243T	DNAH17	NM_173628.4(DNAH17):c.11040+11C>A	noncoding	Benign
17	78450607	A	G	A78450607G	DNAH17	NM_173628.4(DNAH17):c.10899+75T>C	noncoding	Benign
17	78450790	A	G	A78450790G	DNAH17	NM_173628.4(DNAH17):c.10791T>C:p.Asp3597=	coding	Benign
17	78451066	G	A	G78451066A	DNAH17	NM_173628.4(DNAH17):c.10735-220C>T	noncoding	Benign
17	78451535	A	G	A78451535G	DNAH17	NM_173628.4(DNAH17):c.10668T>C:p.Asp3556=	coding	Benign
17	78451753	C	T	C78451753T	DNAH17	NM_173628.4(DNAH17):c.10530-80G>A	noncoding	Benign
17	78453396	G	A	G78453396A	DNAH17	NM_173628.4(DNAH17):c.10476C>T:p.Thr3492=	coding	Benign
17	78455616	C	T	C78455616T	DNAH17	NM_173628.4(DNAH17):c.10170+28G>A	noncoding	Benign
17	78455839	A	G	A78455839G	DNAH17	NM_173628.4(DNAH17):c.9978-3T>C	noncoding	Benign
17	78459136	G	A	G78459136A	DNAH17	NM_173628.4(DNAH17):c.9726C>T:p.Cys3242=	coding	Benign
17	78459935	C	G	C78459935G	DNAH17	NM_173628.4(DNAH17):c.9502G>C:p.Val3168Leu	coding	Benign
17	78460026	C	T	C78460026T	DNAH17	NM_173628.4(DNAH17):c.9436-25G>A	noncoding	Benign
17	78460053	G	A	G78460053A	DNAH17	NM_173628.4(DNAH17):c.9436-52C>T	noncoding	Benign
17	78460129	C	T	C78460129T	DNAH17	NM_173628.4(DNAH17):c.9435+33G>A	noncoding	Benign
17	78460270	T	C	T78460270C	DNAH17	NM_173628.4(DNAH17):c.9340-13A>G	noncoding	Benign
17	78461477	T	G	T78461477G	DNAH17	NM_173628.4(DNAH17):c.9339+67A>C	noncoding	Benign
17	78461828	G	C	G78461828C	DNAH17	NM_173628.4(DNAH17):c.9175-120C>G	noncoding	Benign
17	78462773	G	C	G78462773C	DNAH17	NM_173628.4(DNAH17):c.9174+71C>G	noncoding	Benign
17	78462824	A	G	A78462824G	DNAH17	NM_173628.4(DNAH17):c.9174+20T>C	noncoding	Benign
17	78462829	G	A	G78462829A	DNAH17	NM_173628.4(DNAH17):c.9174+15C>T	noncoding	Benign
17	78463219	C	T	C78463219T	DNAH17	NM_173628.4(DNAH17):c.8941-142G>A	noncoding	Benign
17	78463252	A	G	A78463252G	DNAH17	NM_173628.4(DNAH17):c.8941-175T>C	noncoding	Benign
17	78466867	G	A	G78466867A	DNAH17	NM_173628.4(DNAH17):c.8779-51C>T	noncoding	Benign
17	78466992	G	A	G78466992A	DNAH17	NM_173628.4(DNAH17):c.8779-176C>T	noncoding	Benign
17	78468834	G	A	G78468834A	DNAH17	NM_173628.4(DNAH17):c.8561C>T:p.Ser2854Leu	coding	Benign
17	78475597	G	A	G78475597A	DNAH17	NM_173628.4(DNAH17):c.8319+72C>T	noncoding	Benign
17	78476380	G	A	G78476380A	DNAH17	NM_173628.4(DNAH17):c.8154+192C>T	noncoding	Benign
17	78476492	G	A	G78476492A	DNAH17	NM_173628.4(DNAH17):c.8154+80C>T	noncoding	Benign
17	78476747	A	G	A78476747G	DNAH17	NM_173628.4(DNAH17):c.7993-14T>C	noncoding	Benign
17	78476773	C	T	C78476773T	DNAH17	NM_173628.4(DNAH17):c.7993-40G>A	noncoding	Benign
17	78476832	C	T	C78476832T	DNAH17	NM_173628.4(DNAH17):c.7993-99G>A	noncoding	Benign
17	78476894	G	A	G78476894A	DNAH17	NM_173628.4(DNAH17):c.7993-161C>T	noncoding	Benign
17	78476904	A	C	A78476904C	DNAH17	NM_173628.4(DNAH17):c.7993-171T>G	noncoding	Benign
17	78478985	A	G	A78478985G	DNAH17	NM_173628.4(DNAH17):c.7992+40T>C	noncoding	Benign
17	78479058	G	A	G78479058A	DNAH17	NM_173628.4(DNAH17):c.7959C>T:p.Val2653=	coding	Benign
17	78479387	A	G	A78479387G	DNAH17	NM_173628.4(DNAH17):c.7900+98T>C	noncoding	Benign
17	78479727	T	C	T78479727C	DNAH17	NM_173628.4(DNAH17):c.7753-95A>G	noncoding	Benign
17	78479729	T	G	T78479729G	DNAH17	NM_173628.4(DNAH17):c.7753-97A>C	noncoding	Benign
17	78479785	T	C	T78479785C	DNAH17	NM_173628.4(DNAH17):c.7753-153A>G	noncoding	Benign
17	78480456	A	T	A78480456T	DNAH17	NM_173628.4(DNAH17):c.7752+228T>A	noncoding	Benign
17	78480560	G	T	G78480560T	DNAH17	NM_173628.4(DNAH17):c.7752+124C>A	noncoding	Benign
17	78480662	G	A	G78480662A	DNAH17	NM_173628.4(DNAH17):c.7752+22C>T	noncoding	Benign
17	78480833	A	G	A78480833G	DNAH17	NM_173628.4(DNAH17):c.7650-47T>C	noncoding	Benign
17	78484692	A	G	A78484692G	DNAH17	NM_173628.4(DNAH17):c.7649+176T>C	noncoding	Benign
17	78485098	G	A	G78485098A	DNAH17	NM_173628.4(DNAH17):c.7484-65C>T	coding	Benign
17	78485207	C	T	C78485207T	DNAH17	NM_173628.4(DNAH17):c.7484-174G>A	noncoding	Benign
17	78485428	T	C	T78485428C	DNAH17	NM_173628.4(DNAH17):c.7483+122A>G	noncoding	Benign
17	78485526	A	G	A78485526G	DNAH17	NM_173628.4(DNAH17):c.7483+24T>C	noncoding	Benign
17	78485531	G	A	G78485531A	DNAH17	NM_173628.4(DNAH17):c.7483+19C>T	noncoding	Benign
17	78485738	G	A	G78485738A	DNAH17	NM_173628.4(DNAH17):c.7295C>T:p.Thr2432Met	coding	Benign
17	78485915	T	C	T78485915C	DNAH17	NM_173628.4(DNAH17):c.7275+45A>G	noncoding	Benign
17	78486174	A	G	A78486174G	DNAH17	NM_173628.4(DNAH17):c.7102-41T>C	noncoding	Benign
17	78486353	C	T	C78486353T	DNAH17	NM_173628.4(DNAH17):c.6972G>A:p.Thr2324=	coding	Benign
17	78490487	T	C	T78490487C	DNAH17	NM_173628.4(DNAH17):c.6818+212A>G	noncoding	Benign
17	78490497	T	C	T78490497C	DNAH17	NM_173628.4(DNAH17):c.6818+202A>G	noncoding	Benign
17	78491394	T	C	T78491394C	DNAH17	NM_173628.4(DNAH17):c.6669+49A>G	noncoding	Benign
17	78492812	C	T	C78492812T	DNAH17	NM_173628.4(DNAH17):c.6409-47G>A	noncoding	Benign
17	78494001	G	A	G78494001A	DNAH17	NM_173628.4(DNAH17):c.6408+35C>T	noncoding	Benign
17	78494896	C	G	C78494896G	DNAH17	NM_173628.4(DNAH17):c.6042+63G>C	noncoding	Benign
17	78494909	G	A	G78494909A	DNAH17	NM_173628.4(DNAH17):c.6042+50C>T	noncoding	Benign
17	78495129	G	A	G78495129A	DNAH17	NM_173628.4(DNAH17):c.5904-32C>T	noncoding	Benign
17	78495176	G	A	G78495176A	DNAH17	NM_173628.4(DNAH17):c.5904-79C>T	noncoding	Benign
17	78495227	G	A	G78495227A	DNAH17	NM_173628.4(DNAH17):c.5904-130C>T	noncoding	Benign
17	78495691	G	A	G78495691A	DNAH17	NM_173628.4(DNAH17):c.5903+184C>T	noncoding	Benign
17	78498968	C	T	C78498968T	DNAH17	NM_173628.4(DNAH17):c.5745+40G>A	coding	Benign
17	78499013	C	T	C78499013T	DNAH17	NM_173628.4(DNAH17):c.5740G>A:p.Val1914Met	coding	Benign
17	78499046	G	A	G78499046A	DNAH17	NM_173628.4(DNAH17):c.5707C>T:p.Arg1903Cys	coding	Pathogenic
17	78499277	T	C	T78499277C	DNAH17	NM_173628.4(DNAH17):c.5641-165A>G	coding	Benign
17	78500101	G	A	G78500101A	DNAH17	NM_173628.4(DNAH17):c.5640+204C>T	coding	Benign
17	78500212	G	A	G78500212A	DNAH17	NM_173628.4(DNAH17):c.5640+93C>T	coding	Benign
17	78500248	G	A	G78500248A	DNAH17	NM_173628.4(DNAH17):c.5640+57C>T	coding	Benign
17	78500263	A	C	A78500263C	DNAH17	NM_173628.4(DNAH17):c.5640+42T>G	coding	Benign
17	78500268	A	C	A78500268C	DNAH17	NM_173628.4(DNAH17):c.5640+37T>G	coding	Benign
17	78500279	C	G	C78500279G	DNAH17	NM_173628.4(DNAH17):c.5640+26G>C	coding	Benign
17	78500495	C	T	C78500495T	DNAH17	NM_173628.4(DNAH17):c.5484-34G>A	coding	Benign
17	78501018	T	C	T78501018C	DNAH17	NM_173628.4(DNAH17):c.5483+166A>G	coding	Benign
17	78501032	A	G	A78501032G	DNAH17	NM_173628.4(DNAH17):c.5483+152T>C	coding	Benign
17	78501259	C	T	C78501259T	DNAH17	NM_173628.4(DNAH17):c.5408G>A:p.Cys1803Tyr	coding	Pathogenic
17	78501447	G	T	G78501447T	DNAH17	NM_173628.4(DNAH17):c.5323-103C>A	coding	Benign
17	78501461	C	T	C78501461T	DNAH17	NM_173628.4(DNAH17):c.5323-117G>A	coding	Benign
17	78501696	T	C	T78501696C	DNAH17	NM_173628.4(DNAH17):c.5322+46A>G	coding	Benign
17	78502484	G	C	G78502484C	DNAH17	NM_173628.4(DNAH17):c.5190+107C>G	coding	Benign
17	78502486	C	T	C78502486T	DNAH17	NM_173628.4(DNAH17):c.5190+105G>A	coding	Benign
17	78502762	A	G	A78502762G	DNAH17	NM_173628.4(DNAH17):c.5083-64T>C	coding	Benign
17	78505571	C	T	C78505571T	DNAH17	NM_173628.4(DNAH17):c.4804-126G>A	noncoding	Benign
17	78506533	C	T	C78506533T	DNAH17	NM_173628.4(DNAH17):c.4803+187G>A	noncoding	Benign
17	78506552	G	A	G78506552A	DNAH17	NM_173628.4(DNAH17):c.4803+168C>T	noncoding	Benign
17	78506652	T	C	T78506652C	DNAH17	NM_173628.4(DNAH17):c.4803+68A>G	noncoding	Benign
17	78507315	G	T	G78507315T	DNAH17	NM_173628.4(DNAH17):c.4639C>A:p.Pro1547Thr	coding	Benign
17	78507596	C	A	C78507596A	DNAH17	NM_173628.4(DNAH17):c.4446G>T:p.Ala1482=	coding	Benign
17	78507884	T	C	T78507884C	DNAH17	NM_173628.4(DNAH17):c.4237-79A>G	noncoding	Benign
17	78510525	G	A	G78510525A	DNAH17	NM_173628.4(DNAH17):c.4114-19C>T	noncoding	Benign
17	78510583	T	C	T78510583C	DNAH17	NM_173628.4(DNAH17):c.4114-77A>G	noncoding	Benign
17	78510735	A	G	A78510735G	DNAH17	NM_173628.4(DNAH17):c.4114-229T>C	noncoding	Benign
17	78514622	G	A	G78514622A	DNAH17	NM_173628.4(DNAH17):c.4113+152C>T	noncoding	Benign
17	78515189	G	A	G78515189A	DNAH17	NM_173628.4(DNAH17):c.3865-167C>T	noncoding	Benign
17	78524975	C	T	C78524975T	DNAH17	NM_173628.4(DNAH17):c.3864+34G>A	noncoding	Benign
17	78524994	G	A	G78524994A	DNAH17	NM_173628.4(DNAH17):c.3864+15C>T	noncoding	Benign
17	78525209	T	C	T78525209C	DNAH17	NM_173628.4(DNAH17):c.3712-48A>G	noncoding	Benign
17	78525226	C	T	C78525226T	DNAH17	NM_173628.4(DNAH17):c.3712-65G>A	noncoding	Benign
17	78525267	C	A	C78525267A	DNAH17	NM_173628.4(DNAH17):c.3712-106G>T	noncoding	Benign
17	78525305	T	C	T78525305C	DNAH17	NM_173628.4(DNAH17):c.3712-144A>G	noncoding	Benign
17	78525331	C	T	C78525331T	DNAH17	NM_173628.4(DNAH17):c.3712-170G>A	noncoding	Benign
17	78525384	A	C	A78525384C	DNAH17	NM_173628.4(DNAH17):c.3712-223T>G	noncoding	Benign
17	78526577	G	T	G78526577T	DNAH17	NM_173628.4(DNAH17):c.3711+74C>A	noncoding	Benign
17	78526702	G	A	G78526702A	DNAH17	NM_173628.4(DNAH17):c.3660C>T:p.Arg1220=	coding	Benign
17	78526755	A	G	A78526755G	DNAH17	NM_173628.4(DNAH17):c.3625-18T>C	noncoding	Benign
17	78527109	G	A	G78527109A	DNAH17	NM_173628.4(DNAH17):c.3508-113C>T	noncoding	Benign
17	78529393	T	G	T78529393G	DNAH17	NM_173628.4(DNAH17):c.3507+79A>C	noncoding	Benign
17	78529510	C	T	C78529510T	DNAH17	NM_173628.4(DNAH17):c.3469G>A:p.Gly1157Arg	coding	Benign
17	78529723	C	G	C78529723G	DNAH17	NM_173628.4(DNAH17):c.3285-29G>C	noncoding	Benign
17	78529782	G	A	G78529782A	DNAH17	NM_173628.4(DNAH17):c.3285-88C>T	noncoding	Benign
17	78529819	T	C	T78529819C	DNAH17	NM_173628.4(DNAH17):c.3285-125A>G	noncoding	Benign
17	78530217	G	A	G78530217A	DNAH17	NM_173628.4(DNAH17):c.3284+126C>T	noncoding	Benign
17	78530706	C	G	C78530706G	DNAH17	NM_173628.4(DNAH17):c.3115-194G>C	noncoding	Benign
17	78532540	G	T	G78532540T	DNAH17	NM_173628.4(DNAH17):c.3056C>A:p.Thr1019Asn	coding	Benign
17	78532775	T	C	T78532775C	DNAH17	NM_173628.4(DNAH17):c.2860-39A>G	noncoding	Benign
17	78537542	G	A	G78537542A	DNAH17	NM_173628.4(DNAH17):c.2677-61C>T	noncoding	Benign
17	78539677	T	C	T78539677C	DNAH17	NM_173628.4(DNAH17):c.2676+60A>G	noncoding	Benign
17	78551552	T	C	T78551552C	DNAH17	NM_173628.4(DNAH17):c.2374A>G:p.Ile792Val	coding	Benign
17	78552507	A	G	A78552507G	DNAH17	NM_173628.4(DNAH17):c.2287+190T>C	noncoding	Benign
17	78552901	G	A	G78552901A	DNAH17	NM_173628.4(DNAH17):c.2179-96C>T	noncoding	Benign
17	78558032	A	G	A78558032G	DNAH17	NM_173628.4(DNAH17):c.2178+76T>C	noncoding	Benign
17	78558065	A	G	A78558065G	DNAH17	NM_173628.4(DNAH17):c.2178+43T>C	noncoding	Benign
17	78558361	G	A	G78558361A	DNAH17	NM_173628.4(DNAH17):c.2032-107C>T	noncoding	Benign
17	78561064	A	G	A78561064G	DNAH17	NM_173628.4(DNAH17):c.1836-129T>C	noncoding	Benign
17	78561577	T	A	T78561577A	DNAH17	NM_173628.4(DNAH17):c.1835+138A>T	noncoding	Benign
17	78561597	T	C	T78561597C	DNAH17	NM_173628.4(DNAH17):c.1835+118A>G	noncoding	Benign
17	78561861	G	A	G78561861A	DNAH17	NM_173628.4(DNAH17):c.1689C>T:p.Tyr563=	coding	Benign
17	78562077	T	C	T78562077C	DNAH17	NM_173628.4(DNAH17):c.1570-97A>G	noncoding	Benign
17	78566570	A	G	A78566570G	DNAH17	NM_173628.4(DNAH17):c.1569+44T>C	noncoding	Benign
17	78566594	C	T	C78566594T	DNAH17	NM_173628.4(DNAH17):c.1569+20G>A	noncoding	Benign
17	78566858	C	T	C78566858T	DNAH17	NM_173628.4(DNAH17):c.1453-128G>A	noncoding	Benign
17	78566956	T	C	T78566956C	DNAH17	NM_173628.4(DNAH17):c.1452+43A>G	noncoding	Benign
17	78569135	G	C	G78569135C	DNAH17	NM_173628.4(DNAH17):c.1284+31C>G	noncoding	Benign
17	78569705	C	T	C78569705T	DNAH17	NM_173628.4(DNAH17):c.1045-178G>A	noncoding	Benign
17	78570024	T	C	T78570024C	DNAH17	NM_173628.4(DNAH17):c.1044+223A>G	noncoding	Benign
17	78570037	C	T	C78570037T	DNAH17	NM_173628.4(DNAH17):c.1044+210G>A	noncoding	Benign
17	78570053	G	A	G78570053A	DNAH17	NM_173628.4(DNAH17):c.1044+194C>T	noncoding	Benign
17	78570829	G	A	G78570829A	DNAH17	NM_173628.4(DNAH17):c.918+119C>T	noncoding	Benign
17	78570893	A	T	A78570893T	DNAH17	NM_173628.4(DNAH17):c.918+55T>A	noncoding	Benign
17	78570931	C	T	C78570931T	DNAH17	NM_173628.4(DNAH17):c.918+17G>A	noncoding	Benign
17	78571250	C	A	C78571250A	DNAH17	NM_173628.4(DNAH17):c.832+29G>T	noncoding	Benign
17	78571828	G	A	G78571828A	DNAH17	NM_173628.4(DNAH17):c.540-46C>T	noncoding	Benign
17	78571938	C	A	C78571938A	DNAH17	NM_173628.4(DNAH17):c.540-156G>T	noncoding	Benign
17	78572569	C	T	C78572569T	DNAH17	NM_173628.4(DNAH17):c.539+132G>A	noncoding	Benign
17	78572634	G	T	G78572634T	DNAH17	NM_173628.4(DNAH17):c.539+67C>A	noncoding	Benign
17	78572681	A	C	A78572681C	DNAH17	NM_173628.4(DNAH17):c.539+20T>G	noncoding	Benign
17	78572974	G	T	G78572974T	DNAH17	NM_173628.4(DNAH17):c.346-80C>A	noncoding	Benign
17	78574689	G	A	G78574689A	DNAH17	NM_173628.4(DNAH17):c.345+24C>T	noncoding	Benign
17	78574842	G	A	G78574842A	DNAH17	NM_173628.4(DNAH17):c.216C>T:p.Leu72=	coding	Benign
17	78575187	A	C	A78575187C	DNAH17	NM_173628.4(DNAH17):c.-25-105T>G	noncoding	Benign
17	78993742	C	T	C78993742T	CANT1	NM_001159773.2(CANT1):c.1014G>A:p.Val338=	coding	Benign
17	78993929	C	T	C78993929T	CANT1	NM_001159773.2(CANT1):c.836-9G>A	noncoding	Pathogenic/Likely_pathogenic
17	78994122	G	C	G78994122C	CANT1	NM_001159773.2(CANT1):c.836-202C>G	noncoding	Benign
17	78995178	G	C	G78995178C	CANT1	NM_001159773.2(CANT1):c.675C>G:p.Tyr225Ter	coding	Pathogenic
17	78995210	C	T	C78995210T	CANT1	NM_001159773.2(CANT1):c.643G>A:p.Glu215Lys	coding	Pathogenic/Likely_pathogenic
17	78995342	C	A	C78995342A	CANT1	NM_001159773.2(CANT1):c.632-121G>T	noncoding	Benign
17	79009611	T	C	T79009611C	CANT1	NM_001159773.2(CANT1):c.-147+53A>G	noncoding	Benign
17	79096638	C	T	C79096638T	RBFOX3	NM_001350451.2(RBFOX3):c.936+15G>A	noncoding	Benign
17	79097686	T	C	T79097686C	RBFOX3	NM_001350451.2(RBFOX3):c.622+6A>G	noncoding	Benign
17	79101567	G	A	G79101567A	RBFOX3	NM_001350451.2(RBFOX3):c.568+17C>T	noncoding	Benign
17	79106635	G	A	G79106635A	RBFOX3	NM_001350451.2(RBFOX3):c.360+16C>T	noncoding	Benign
17	79115650	G	A	G79115650A	RBFOX3	NM_001350451.2(RBFOX3):c.66C>T:p.Tyr22=	coding	Benign
17	79115706	G	T	G79115706T	RBFOX3	NM_001350451.2(RBFOX3):c.10C>A:p.Pro4Thr	coding	Benign
17	79779392	C	T	C79779392T	CBX2	NM_005189.3(CBX2):c.147C>T:p.Ile49=	coding	Benign
17	79784046	C	T	C79784046T	CBX2	NM_005189.3(CBX2):c.603C>T:p.Pro201=	coding	Benign
17	79784685	G	A	G79784685A	CBX2	NM_005189.3(CBX2):c.1242G>A:p.Leu414=	coding	Benign
17	79784798	C	T	C79784798T	CBX2	NM_005189.3(CBX2):c.1355C>T:p.Ala452Val	coding	Benign
17	79784892	G	A	G79784892A	CBX2	NM_005189.3(CBX2):c.1449G>A:p.Pro483=	coding	Benign
17	80036451	G	T	G80036451T	CCDC40	Single_allele	noncoding	Benign
17	80036702	C	G	C80036702G	CCDC40	NM_017950.4(CCDC40):c.29+11C>G	noncoding	Benign
17	80036749	C	A	C80036749A	CCDC40	NM_017950.4(CCDC40):c.29+58C>A	noncoding	Benign
17	80036911	C	T	C80036911T	CCDC40	NM_017950.4(CCDC40):c.29+220C>T	noncoding	Benign
17	80037892	A	G	A80037892G	CCDC40	NM_017950.4(CCDC40):c.30-231A>G	noncoding	Benign
17	80037932	G	T	G80037932T	CCDC40	NM_017950.4(CCDC40):c.30-191G>T	noncoding	Benign
17	80038043	G	A	G80038043A	CCDC40	NM_017950.4(CCDC40):c.30-80G>A	noncoding	Benign
17	80047461	T	C	T80047461C	CCDC40	NM_017950.4(CCDC40):c.676+59T>C	noncoding	Benign
17	80047510	T	C	T80047510C	CCDC40	NM_017950.4(CCDC40):c.676+108T>C	noncoding	Benign
17	80047604	C	T	C80047604T	CCDC40	NM_017950.4(CCDC40):c.676+202C>T	noncoding	Benign
17	80047620	C	A	C80047620A	CCDC40	NM_017950.4(CCDC40):c.676+218C>A	noncoding	Benign
17	80047694	A	G	A80047694G	CCDC40	NM_017950.4(CCDC40):c.676+292A>G	noncoding	Benign
17	80047709	C	T	C80047709T	CCDC40	NM_017950.4(CCDC40):c.676+307C>T	noncoding	Benign
17	80047730	A	G	A80047730G	CCDC40	NM_017950.4(CCDC40):c.676+328A>G	noncoding	Benign
17	80048273	T	C	T80048273C	CCDC40	NM_017950.4(CCDC40):c.677-310T>C	noncoding	Benign
17	80048275	G	A	G80048275A	CCDC40	NM_017950.4(CCDC40):c.677-308G>A	noncoding	Benign
17	80048395	T	C	T80048395C	CCDC40	NM_017950.4(CCDC40):c.677-188T>C	noncoding	Benign
17	80048446	G	A	G80048446A	CCDC40	NM_017950.4(CCDC40):c.677-137G>A	noncoding	Benign
17	80048605	T	C	T80048605C	CCDC40	NM_017950.4(CCDC40):c.699T>C:p.Asp233=	coding	Benign/Likely_benign
17	80048806	G	A	G80048806A	CCDC40	NM_017950.4(CCDC40):c.855+45G>A	noncoding	Benign
17	80048959	C	G	C80048959G	CCDC40	NM_017950.4(CCDC40):c.855+198C>G	noncoding	Benign
17	80048979	A	C	A80048979C	CCDC40	NM_017950.4(CCDC40):c.855+218A>C	noncoding	Benign
17	80049058	A	G	A80049058G	CCDC40	NM_017950.4(CCDC40):c.855+297A>G	noncoding	Benign
17	80049815	G	A	G80049815A	CCDC40	NM_017950.4(CCDC40):c.856-91G>A	noncoding	Benign
17	80049951	C	T	C80049951T	CCDC40	NM_017950.4(CCDC40):c.901C>T:p.Arg301Ter	coding	Pathogenic
17	80058559	C	T	C80058559T	CCDC40	NM_017950.4(CCDC40):c.1225C>T:p.Gln409Ter	coding	Pathogenic
17	80058671	C	T	C80058671T	CCDC40	NM_017950.4(CCDC40):c.1317+20C>T	noncoding	Benign
17	80058782	T	C	T80058782C	CCDC40	NM_017950.4(CCDC40):c.1318-76T>C	noncoding	Benign
17	80058996	G	A	G80058996A	CCDC40	NM_017950.4(CCDC40):c.1440+16G>A	noncoding	Benign/Likely_benign
17	80059116	C	T	C80059116T	CCDC40	NM_017950.4(CCDC40):c.1440+136C>T	noncoding	Benign
17	80059120	C	A	C80059120A	CCDC40	NM_017950.4(CCDC40):c.1440+140C>A	noncoding	Benign
17	80059209	C	T	C80059209T	CCDC40	NM_017950.4(CCDC40):c.1440+229C>T	noncoding	Benign
17	80065348	C	A	C80065348A	CCDC40	NM_017950.4(CCDC40):c.1441-137C>A	noncoding	Benign
17	80065379	A	G	A80065379G	CCDC40	NM_017950.4(CCDC40):c.1441-106A>G	noncoding	Benign
17	80065670	C	T	C80065670T	CCDC40	NM_017950.4(CCDC40):c.1562+64C>T	noncoding	Benign
17	80065820	G	A	G80065820A	CCDC40	NM_017950.4(CCDC40):c.1562+214G>A	noncoding	Benign
17	80065914	T	C	T80065914C	CCDC40	NM_017950.4(CCDC40):c.1562+308T>C	noncoding	Benign
17	80081705	C	A	C80081705A	CCDC40	NM_017950.4(CCDC40):c.1722C>A:p.Thr574=	coding	Benign/Likely_benign
17	80081924	C	T	C80081924T	CCDC40	NM_017950.4(CCDC40):c.1855C>T:p.Gln619Ter	coding	Pathogenic
17	80084633	G	A	G80084633A	CCDC40	NM_017950.4(CCDC40):c.1990-110G>A	noncoding	Benign
17	80086310	G	A	G80086310A	CCDC40	NM_017950.4(CCDC40):c.2449+94G>A	noncoding	Benign
17	80086403	T	G	T80086403G	CCDC40	NM_017950.4(CCDC40):c.2449+187T>G	noncoding	Benign
17	80086427	G	A	G80086427A	CCDC40	NM_017950.4(CCDC40):c.2449+211G>A	noncoding	Benign
17	80087342	T	G	T80087342G	CCDC40	NM_017950.4(CCDC40):c.2450-265T>G	noncoding	Benign
17	80087471	G	C	G80087471C	CCDC40	NM_017950.4(CCDC40):c.2450-136G>C	noncoding	Benign
17	80087475	C	T	C80087475T	CCDC40	NM_017950.4(CCDC40):c.2450-132C>T	noncoding	Benign
17	80087518	A	C	A80087518C	CCDC40	NM_017950.4(CCDC40):c.2450-89A>C	noncoding	Benign
17	80087554	G	A	G80087554A	CCDC40	NM_017950.4(CCDC40):c.2450-53G>A	noncoding	Benign
17	80089668	G	A	G80089668A	CCDC40	NM_017950.4(CCDC40):c.2712-96G>A	noncoding	Benign
17	80090158	A	G	A80090158G	CCDC40	NM_017950.4(CCDC40):c.2832+274A>G	coding	Benign
17	80090165	A	G	A80090165G	CCDC40	NM_017950.4(CCDC40):c.2832+281A>G	coding	Benign
17	80090167	A	G	A80090167G	CCDC40	NM_017950.4(CCDC40):c.2832+283A>G	coding	Benign
17	80090585	C	T	C80090585T	CCDC40	NM_017950.4(CCDC40):c.2832+701C>T	coding	Benign
17	80090604	G	C	G80090604C	CCDC40	NM_017950.4(CCDC40):c.2832+720G>C	coding	Benign
17	80095149	C	T	C80095149T	CCDC40	NM_017950.4(CCDC40):c.2833-114C>T	noncoding	Benign
17	80095350	C	T	C80095350T	CCDC40	NM_017950.4(CCDC40):c.2920C>T:p.Gln974Ter	coding	Pathogenic
17	80095463	C	T	C80095463T	CCDC40	NM_017950.4(CCDC40):c.3021+12C>T	noncoding	Benign
17	80095525	C	A	C80095525A	CCDC40	NM_017950.4(CCDC40):c.3021+74C>A	noncoding	Benign
17	80096972	C	T	C80096972T	CCDC40	NM_017950.4(CCDC40):c.3022-273C>T	noncoding	Benign
17	80097398	C	T	C80097398T	CCDC40	NM_017950.4(CCDC40):c.3175C>T:p.Arg1059Ter	coding	Pathogenic
17	80097528	C	A	C80097528A	CCDC40	NM_017950.4(CCDC40):c.3180+125C>A	noncoding	Benign
17	80099317	T	C	T80099317C	CCDC40	NM_017950.4(CCDC40):c.3181-210T>C	noncoding	Benign
17	80099341	G	A	G80099341A	CCDC40	NM_017950.4(CCDC40):c.3181-186G>A	noncoding	Benign
17	80099402	G	A	G80099402A	CCDC40	NM_017950.4(CCDC40):c.3181-125G>A	noncoding	Benign
17	80099495	T	C	T80099495C	CCDC40	NM_017950.4(CCDC40):c.3181-32T>C	noncoding	Benign
17	80099595	C	T	C80099595T	CCDC40	NM_017950.4(CCDC40):c.3249C>T:p.Tyr1083=	coding	Benign/Likely_benign
17	80099695	G	T	G80099695T	CCDC40	NM_017950.4(CCDC40):c.3349G>T:p.Glu1117Ter	coding	Pathogenic
17	80101429	C	T	C80101429T	GAA	Single_allele	noncoding	Benign
17	80101585	C	G	C80101585G	CCDC40;GAA	NM_000152.5(GAA):c.-338C>G	noncoding	Benign/Likely_benign
17	80101663	G	C	G80101663C	CCDC40;GAA	NM_000152.5(GAA):c.-260G>C	noncoding	Benign/Likely_benign
17	80101745	G	A	G80101745A	CCDC40;GAA	NM_000152.5(GAA):c.-178G>A	noncoding	Benign/Likely_benign
17	80102109	G	C	G80102109C	GAA	NM_000152.5(GAA):c.-33+219G>C	noncoding	Benign
17	80104552	C	A	C80104552A	GAA	NM_000152.5(GAA):c.-32-3C>A	noncoding	Pathogenic/Likely_pathogenic
17	80104553	A	G	A80104553G	GAA	NM_000152.5(GAA):c.-32-2A>G	noncoding	Pathogenic/Likely_pathogenic
17	80104832	C	A	C80104832A	GAA	NM_000152.5(GAA):c.246C>A:p.Cys82Ter	coding	Pathogenic
17	80104890	C	T	C80104890T	GAA	NM_000152.5(GAA):c.304C>T:p.Gln102Ter	coding	Pathogenic
17	80104895	C	A	C80104895A	GAA	NM_000152.5(GAA):c.309C>A:p.Cys103Ter	coding	Pathogenic
17	80104895	C	G	C80104895G	GAA	NM_000152.5(GAA):c.309C>G:p.Cys103Trp	coding	Pathogenic
17	80104908	T	A	T80104908A	GAA	NM_000152.5(GAA):c.322T>A:p.Cys108Ser	coding	Pathogenic
17	80104941	G	T	G80104941T	GAA	NM_000152.5(GAA):c.355G>T:p.Gly119Ter	coding	Pathogenic
17	80104947	C	T	C80104947T	GAA	NM_000152.5(GAA):c.361C>T:p.Gln121Ter	coding	Pathogenic
17	80105030	C	G	C80105030G	GAA	NM_000152.5(GAA):c.444C>G:p.Tyr148Ter	coding	Pathogenic
17	80105748	G	C	G80105748C	GAA	NM_000152.5(GAA):c.547-1G>C	noncoding	Pathogenic
17	80105770	C	T	C80105770T	GAA	NM_000152.5(GAA):c.568C>T:p.Arg190Cys	coding	Pathogenic
17	80105873	G	A	G80105873A	GAA	NM_000152.5(GAA):c.671G>A:p.Arg224Gln	coding	Pathogenic/Likely_pathogenic
17	80105878	C	G	C80105878G	GAA	NM_000152.5(GAA):c.676C>G:p.Leu226Val	coding	Benign/Likely_benign
17	80105899	G	T	G80105899T	GAA	NM_000152.5(GAA):c.692+5G>T	noncoding	Pathogenic/Likely_pathogenic
17	80105911	G	C	G80105911C	GAA	NM_000152.5(GAA):c.692+17G>C	noncoding	Benign/Likely_benign
17	80105932	C	T	C80105932T	GAA	NM_000152.5(GAA):c.692+38C>T	noncoding	Benign
17	80106038	A	G	A80106038G	GAA	NM_000152.5(GAA):c.692+144A>G	noncoding	Benign
17	80107479	C	T	C80107479T	GAA	NM_000152.5(GAA):c.693-78C>T	noncoding	Benign
17	80107718	C	G	C80107718G	GAA	NM_000152.5(GAA):c.854C>G:p.Pro285Arg	coding	Pathogenic/Likely_pathogenic
17	80107812	C	T	C80107812T	GAA	NM_000152.5(GAA):c.871C>T:p.Leu291Phe	coding	Pathogenic
17	80107813	T	C	T80107813C	GAA	NM_000152.5(GAA):c.872T>C:p.Leu291Pro	coding	Pathogenic
17	80107864	A	C	A80107864C	GAA	NM_000152.5(GAA):c.923A>C:p.His308Pro	coding	Pathogenic/Likely_pathogenic
17	80107894	T	C	T80107894C	GAA	NM_000152.5(GAA):c.953T>C:p.Met318Thr	coding	Pathogenic
17	80108051	C	A	C80108051A	GAA	NM_000152.5(GAA):c.955+155C>A	noncoding	Benign
17	80108183	G	A	G80108183A	GAA	NM_000152.5(GAA):c.956-107G>A	noncoding	Benign
17	80108206	C	T	C80108206T	GAA	NM_000152.5(GAA):c.956-84C>T	noncoding	Benign
17	80108329	C	A	C80108329A	GAA	NM_000152.5(GAA):c.995C>A:p.Ser332Ter	coding	Pathogenic
17	80108488	G	C	G80108488C	GAA	NM_000152.5(GAA):c.1076-1G>C	noncoding	Pathogenic
17	80108547	C	A	C80108547A	GAA	NM_000152.5(GAA):c.1134C>A:p.Tyr378Ter	coding	Pathogenic
17	80108716	T	C	T80108716C	GAA	NM_000152.5(GAA):c.1214T>C:p.Leu405Pro	coding	Pathogenic
17	80108960	G	A	G80108960A	GAA	NM_000152.5(GAA):c.1326+132G>A	noncoding	Benign
17	80109827	A	G	A80109827G	GAA	NM_000152.5(GAA):c.1327-118A>G	noncoding	Benign
17	80109995	C	T	C80109995T	GAA	NM_000152.5(GAA):c.1377C>T:p.Asp459=	coding	Benign
17	80110125	T	A	T80110125A	GAA	NM_000152.5(GAA):c.1437+70T>A	noncoding	Benign
17	80110619	G	A	G80110619A	GAA	NM_000152.5(GAA):c.1438-108G>A	noncoding	Benign
17	80110732	G	A	G80110732A	GAA	NM_000152.5(GAA):c.1443G>A:p.Trp481Ter	coding	Pathogenic
17	80110783	G	A	G80110783A	GAA	NM_000152.5(GAA):c.1494G>A:p.Trp498Ter	coding	Pathogenic
17	80110786	G	A	G80110786A	GAA	NM_000152.5(GAA):c.1497G>A:p.Trp499Ter	coding	Pathogenic
17	80110946	G	A	G80110946A	GAA	NM_000152.5(GAA):c.1557G>A:p.Met519Ile	coding	Pathogenic
17	80110950	G	A	G80110950A	GAA	NM_000152.5(GAA):c.1561G>A:p.Glu521Lys	coding	Pathogenic/Likely_pathogenic
17	80111143	G	T	G80111143T	GAA	NM_000152.5(GAA):c.1636+118G>T	noncoding	Benign
17	80111798	A	G	A80111798G	GAA	NM_000152.5(GAA):c.1637-185A>G	noncoding	Benign
17	80111981	A	G	A80111981G	GAA	NM_000152.5(GAA):c.1637-2A>G	noncoding	Pathogenic
17	80112049	A	T	A80112049T	GAA	NM_000152.5(GAA):c.1703A>T:p.His568Leu	coding	Pathogenic
17	80112204	C	G	C80112204G	GAA	NM_000152.5(GAA):c.1754+104C>G	noncoding	Benign
17	80112244	C	T	C80112244T	GAA	NM_000152.5(GAA):c.1754+144C>T	noncoding	Benign
17	80112669	G	A	G80112669A	GAA	NM_000152.5(GAA):c.1846G>A:p.Asp616Asn	coding	Pathogenic
17	80112680	C	G	C80112680G	GAA	NM_000152.5(GAA):c.1857C>G:p.Ser619Arg	coding	Pathogenic/Likely_pathogenic
17	80112974	C	T	C80112974T	GAA	NM_000152.5(GAA):c.1987C>T:p.Gln663Ter	coding	Pathogenic
17	80113093	C	T	C80113093T	GAA	NM_000152.5(GAA):c.2040+66C>T	noncoding	Benign
17	80113154	G	A	G80113154A	GAA	NM_000152.5(GAA):c.2041-64G>A	noncoding	Benign
17	80113232	C	A	C80113232A	GAA	NM_000152.5(GAA):c.2055C>A:p.Tyr685Ter	coding	Pathogenic
17	80113286	C	A	C80113286A	GAA	NM_000152.5(GAA):c.2109C>A:p.Tyr703Ter	coding	Pathogenic
17	80113320	C	T	C80113320T	GAA	NM_000152.5(GAA):c.2143C>T:p.Gln715Ter	coding	Pathogenic/Likely_pathogenic
17	80113338	G	T	G80113338T	GAA	NM_000152.5(GAA):c.2161G>T:p.Glu721Ter	coding	Pathogenic
17	80113344	G	A	G80113344A	GAA	NM_000152.5(GAA):c.2167G>A:p.Val723Met	coding	Pathogenic
17	80113461	C	T	C80113461T	GAA	NM_000152.5(GAA):c.2189+95C>T	noncoding	Benign
17	80116991	G	A	G80116991A	GAA	NM_000152.5(GAA):c.2213G>A:p.Trp738Ter	coding	Pathogenic/Likely_pathogenic
17	80117006	A	G	A80117006G	GAA	NM_000152.5(GAA):c.2228A>G:p.Gln743Arg	coding	Pathogenic
17	80117133	T	C	T80117133C	GAA	NM_000152.5(GAA):c.2331+24T>C	noncoding	Benign/Likely_benign
17	80117157	C	A	C80117157A	GAA	NM_000152.5(GAA):c.2331+48C>A	noncoding	Benign
17	80117702	G	A	G80117702A	GAA	NM_000152.5(GAA):c.2434G>A:p.Asp812Asn	coding	Pathogenic
17	80117734	C	G	C80117734G	GAA	NM_000152.5(GAA):c.2466C>G:p.Tyr822Ter	coding	Pathogenic
17	80118334	C	T	C80118334T	GAA	NM_000152.5(GAA):c.2623C>T:p.Gln875Ter	coding	Pathogenic
17	80118582	G	C	G80118582C	GAA	NM_000152.5(GAA):c.2647-71G>C	noncoding	Benign/Likely_benign
17	80118824	G	A	G80118824A	GAA	NM_000152.5(GAA):c.2799+19G>A	noncoding	Benign/Likely_benign
17	80181431	G	T	G80181431T	CARD14	NM_001366385.1(CARD14):c.-8G>T	noncoding	Benign
17	80181669	C	T	C80181669T	CARD14	NM_001366385.1(CARD14):c.211+20C>T	noncoding	Benign
17	80182492	G	A	G80182492A	CARD14	NM_001366385.1(CARD14):c.212-161G>A	noncoding	Benign
17	80182634	G	A	G80182634A	CARD14	NM_001366385.1(CARD14):c.212-19G>A	noncoding	Benign
17	80182963	G	T	G80182963T	CARD14	NM_001366385.1(CARD14):c.349+173G>T	noncoding	Benign
17	80183793	C	T	C80183793T	CARD14	NM_001366385.1(CARD14):c.350-120C>T	noncoding	Benign
17	80184264	G	A	G80184264A	CARD14	NM_001366385.1(CARD14):c.675+26G>A	noncoding	Benign
17	80184461	T	C	T80184461C	CARD14	NM_001366385.1(CARD14):c.675+223T>C	noncoding	Benign
17	80184518	C	T	C80184518T	CARD14	NM_001366385.1(CARD14):c.675+280C>T	noncoding	Benign
17	80188554	G	A	G80188554A	CARD14	NM_001366385.1(CARD14):c.843+10G>A	noncoding	Benign
17	80188560	C	T	C80188560T	CARD14	NM_001366385.1(CARD14):c.843+16C>T	noncoding	Benign
17	80189831	C	T	C80189831T	CARD14	NM_001366385.1(CARD14):c.922C>T:p.Leu308=	coding	Benign/Likely_benign
17	80189845	C	T	C80189845T	CARD14	NM_001366385.1(CARD14):c.936C>T:p.Ala312=	coding	Benign
17	80190538	G	C	G80190538C	CARD14	NM_001366385.1(CARD14):c.964-236G>C	noncoding	Benign
17	80190756	G	A	G80190756A	CARD14	NM_001366385.1(CARD14):c.964-18G>A	noncoding	Benign
17	80190987	C	T	C80190987T	CARD14	NM_001366385.1(CARD14):c.1089+88C>T	noncoding	Benign
17	80191038	C	A	C80191038A	CARD14	NM_001366385.1(CARD14):c.1089+139C>A	noncoding	Benign
17	80191289	G	A	G80191289A	CARD14	NM_001366385.1(CARD14):c.1090-34G>A	noncoding	Benign
17	80191308	C	T	C80191308T	CARD14	NM_001366385.1(CARD14):c.1090-15C>T	noncoding	Benign
17	80191313	T	C	T80191313C	CARD14	NM_001366385.1(CARD14):c.1090-10T>C	noncoding	Benign
17	80191657	C	T	C80191657T	CARD14	NM_001366385.1(CARD14):c.1239+185C>T	noncoding	Benign
17	80191712	C	T	C80191712T	CARD14	NM_001366385.1(CARD14):c.1239+240C>T	noncoding	Benign
17	80192586	C	T	C80192586T	CARD14	NM_001366385.1(CARD14):c.1323C>T:p.Asp441=	coding	Benign
17	80192637	G	A	G80192637A	CARD14	NM_001366385.1(CARD14):c.1356+18G>A	noncoding	Benign
17	80195229	C	T	C80195229T	CARD14	NM_001366385.1(CARD14):c.1395C>T:p.Arg465=	coding	Benign
17	80195264	C	T	C80195264T	CARD14	NM_001366385.1(CARD14):c.1430C>T:p.Ala477Val	coding	Benign
17	80195346	G	A	G80195346A	CARD14	NM_001366385.1(CARD14):c.1499+13G>A	noncoding	Benign
17	80195576	G	A	G80195576A	CARD14	NM_001366385.1(CARD14):c.1518G>A:p.Pro506=	coding	Benign
17	80195837	G	A	G80195837A	CARD14	NM_001366385.1(CARD14):c.1594+185G>A	noncoding	Benign
17	80198382	C	T	C80198382T	CARD14	NM_001366385.1(CARD14):c.1659-17C>T	noncoding	Benign
17	80198493	G	A	G80198493A	CARD14	NM_001366385.1(CARD14):c.1753G>A:p.Val585Ile	coding	Benign
17	80198537	C	A	C80198537A	CARD14	NM_001366385.1(CARD14):c.1797C>A:p.Thr599=	coding	Benign
17	80198607	C	T	C80198607T	CARD14	NM_001366385.1(CARD14):c.1851+16C>T	coding	Benign
17	80201684	T	C	T80201684C	CARD14	NM_001366385.1(CARD14):c.1852-60T>C	noncoding	Benign
17	80201728	C	T	C80201728T	CARD14	NM_001366385.1(CARD14):c.1852-16C>T	noncoding	Benign
17	80201736	G	A	G80201736A	CARD14	NM_001366385.1(CARD14):c.1852-8G>A	noncoding	Benign/Likely_benign
17	80202055	C	A	C80202055A	CARD14	NM_001366385.1(CARD14):c.1979-125C>A	noncoding	Benign
17	80202165	G	A	G80202165A	CARD14	NM_001366385.1(CARD14):c.1979-15G>A	noncoding	Benign
17	80202199	G	A	G80202199A	CARD14	NM_001366385.1(CARD14):c.1998G>A:p.Gln666=	coding	Benign
17	80202341	G	A	G80202341A	CARD14	NM_001366385.1(CARD14):c.2140G>A:p.Gly714Ser	coding	Benign/Likely_benign
17	80202672	T	C	T80202672C	CARD14	NM_001366385.1(CARD14):c.2219+252T>C	noncoding	Benign
17	80202678	C	G	C80202678G	CARD14	NM_001366385.1(CARD14):c.2219+258C>G	noncoding	Benign
17	80202697	G	C	G80202697C	CARD14	NM_001366385.1(CARD14):c.2219+277G>C	noncoding	Benign
17	80203896	A	C	A80203896C	CARD14	NM_001366385.1(CARD14):c.2283+11A>C	noncoding	Benign
17	80204006	C	G	C80204006G	CARD14	NM_001366385.1(CARD14):c.2283+121C>G	noncoding	Benign
17	80204355	A	C	A80204355C	CARD14	NM_001366385.1(CARD14):c.2398+14A>C	noncoding	Benign
17	80204371	A	G	A80204371G	CARD14	NM_001366385.1(CARD14):c.2398+30A>G	noncoding	Benign
17	80204383	T	C	T80204383C	CARD14	NM_001366385.1(CARD14):c.2398+42T>C	noncoding	Benign
17	80204390	G	A	G80204390A	CARD14	NM_001366385.1(CARD14):c.2398+49G>A	noncoding	Benign
17	80205117	C	T	C80205117T	CARD14	NM_001366385.1(CARD14):c.2481C>T:p.Pro827=	coding	Benign
17	80205144	G	A	G80205144A	CARD14	NM_001366385.1(CARD14):c.2508G>A:p.Ala836=	coding	Benign
17	80205209	T	C	T80205209C	CARD14	NM_001366385.1(CARD14):c.2569+4T>C	noncoding	Benign/Likely_benign
17	80205667	G	A	G80205667A	CARD14	NM_001366385.1(CARD14):c.2691+15G>A	noncoding	Benign/Likely_benign
17	80205767	C	T	C80205767T	CARD14	NM_001366385.1(CARD14):c.2691+115C>T	noncoding	Benign
17	80206819	A	C	A80206819C	CARD14	NM_001366385.1(CARD14):c.2692-151A>C	noncoding	Benign
17	80207208	C	T	C80207208T	CARD14	NM_001366385.1(CARD14):c.2807+123C>T	noncoding	Benign
17	80207848	C	T	C80207848T	CARD14	NM_001366385.1(CARD14):c.2808-290C>T	noncoding	Benign
17	80207886	A	G	A80207886G	CARD14	NM_001366385.1(CARD14):c.2808-252A>G	noncoding	Benign
17	80208118	C	A	C80208118A	CARD14	NM_001366385.1(CARD14):c.2808-20C>A	noncoding	Benign
17	80208119	C	A	C80208119A	CARD14	NM_001366385.1(CARD14):c.2808-19C>A	noncoding	Benign
17	80208119	C	G	C80208119G	CARD14	NM_001366385.1(CARD14):c.2808-19C>G	noncoding	Benign
17	80208352	G	A	G80208352A	CARD14	NM_001366385.1(CARD14):c.*7G>A	noncoding	Benign
17	80208576	T	G	T80208576G	CARD14	NM_001366385.1(CARD14):c.*231T>G	noncoding	Benign
17	80208619	G	A	G80208619A	CARD14	NM_001366385.1(CARD14):c.*274G>A	noncoding	Benign
17	80208633	G	A	G80208633A	CARD14	NM_001366385.1(CARD14):c.*288G>A	noncoding	Benign
17	80210549	C	T	C80210549T	SGSH	NM_000199.5(SGSH):c.1412G>A:p.Trp471Ter	coding	Pathogenic
17	80210586	G	A	G80210586A	SGSH	NM_000199.5(SGSH):c.1375C>T:p.Gln459Ter	coding	Pathogenic/Likely_pathogenic
17	80210794	G	T	G80210794T	SGSH	NM_000199.5(SGSH):c.1167C>A:p.Asn389Lys	coding	Pathogenic/Likely_pathogenic
17	80210831	C	T	C80210831T	SGSH	NM_000199.5(SGSH):c.1130G>A:p.Arg377His	coding	Pathogenic
17	80211104	C	T	C80211104T	SGSH	NM_000199.5(SGSH):c.950-93G>A	noncoding	Benign
17	80211306	T	C	T80211306C	SGSH	NM_000199.5(SGSH):c.950-295A>G	noncoding	Benign
17	80211843	G	A	G80211843A	SGSH	NM_000199.5(SGSH):c.949+228C>T	noncoding	Benign
17	80212208	G	A	G80212208A	SGSH	NM_000199.5(SGSH):c.812C>T:p.Thr271Met	coding	Pathogenic/Likely_pathogenic
17	80212290	G	A	G80212290A	SGSH	NM_000199.5(SGSH):c.746-16C>T	noncoding	Benign
17	80213803	C	G	C80213803G	SGSH	NM_000199.5(SGSH):c.745+1G>C	noncoding	Pathogenic
17	80213833	T	C	T80213833C	SGSH	NM_000199.5(SGSH):c.716A>G:p.Gln239Arg	coding	Pathogenic
17	80214205	C	T	C80214205T	SGSH	NM_000199.5(SGSH):c.630G>A:p.Trp210Ter	coding	Pathogenic
17	80214218	C	G	C80214218G	SGSH	NM_000199.5(SGSH):c.617G>C:p.Arg206Pro	coding	Pathogenic/Likely_pathogenic
17	80214290	C	T	C80214290T	SGSH	NM_000199.5(SGSH):c.545G>A:p.Arg182His	coding	Pathogenic
17	80214457	C	T	C80214457T	SGSH	NM_000199.5(SGSH):c.507-129G>A	noncoding	Benign
17	80214614	C	T	C80214614T	SGSH	NM_000199.5(SGSH):c.506+1G>A	noncoding	Pathogenic
17	80214655	T	A	T80214655A	SGSH	NM_000199.5(SGSH):c.466A>T:p.Lys156Ter	coding	Pathogenic
17	80214703	C	A	C80214703A	SGSH	NM_000199.5(SGSH):c.418G>T:p.Glu140Ter	coding	Pathogenic
17	80215085	G	T	G80215085T	SGSH	NM_000199.5(SGSH):c.303C>A:p.Phe101Leu	coding	Pathogenic
17	80215086	A	G	A80215086G	SGSH	NM_000199.5(SGSH):c.302T>C:p.Phe101Ser	coding	Pathogenic
17	80215210	C	T	C80215210T	SGSH	NM_000199.5(SGSH):c.250-72G>A	noncoding	Benign
17	80217007	C	A	C80217007A	SGSH	NM_000199.5(SGSH):c.249+25G>T	noncoding	Benign
17	80217046	T	G	T80217046G	SGSH	NM_000199.5(SGSH):c.235A>C:p.Thr79Pro	coding	Pathogenic/Likely_pathogenic
17	80217231	C	T	C80217231T	SGSH	NM_000199.5(SGSH):c.89-39G>A	noncoding	Benign/Likely_benign
17	80217237	C	T	C80217237T	SGSH	NM_000199.5(SGSH):c.89-45G>A	noncoding	Benign/Likely_benign
17	80220032	T	C	T80220032C	SGSH	NM_000199.5(SGSH):c.88+194A>G	noncoding	Benign
17	80220203	G	C	G80220203C	SGSH	NM_000199.5(SGSH):c.88+23C>G	noncoding	Benign
17	80220458	C	T	C80220458T	SGSH	NM_001166347.2(SLC26A11):c.-252C>T	noncoding	Benign
17	80220510	C	T	C80220510T	SGSH	NM_001166347.2(SLC26A11):c.-214+14C>T	noncoding	Benign
17	80220714	A	G	A80220714G	SGSH	NM_001166347.2(SLC26A11):c.-213-202A>G	noncoding	Benign
17	80273365	C	T	C80273365T	RNF213	NM_001256071.3(RNF213):c.222C>T:p.Pro74=	coding	Benign
17	80287795	G	A	G80287795A	RNF213	NM_001256071.3(RNF213):c.262-20G>A	noncoding	Benign
17	80287931	G	A	G80287931A	RNF213	NM_001256071.3(RNF213):c.378G>A:p.Pro126=	coding	Benign
17	80288006	A	G	A80288006G	RNF213	NM_001256071.3(RNF213):c.453A>G:p.Pro151=	coding	Benign
17	80288362	T	C	T80288362C	RNF213	NM_001256071.3(RNF213):c.809T>C:p.Met270Thr	coding	Benign
17	80289687	T	C	T80289687C	RNF213	NM_001256071.3(RNF213):c.962T>C:p.Met321Thr	coding	Benign
17	80289715	G	A	G80289715A	RNF213	NM_001256071.3(RNF213):c.990G>A:p.Lys330=	coding	Benign
17	80289744	A	G	A80289744G	RNF213	NM_001256071.3(RNF213):c.1019A>G:p.Lys340Arg	coding	Benign
17	80290747	T	G	T80290747G	RNF213	NM_001256071.3(RNF213):c.1271+19T>G	noncoding	Benign
17	80298430	C	G	C80298430G	RNF213	NM_001256071.3(RNF213):c.2122C>G:p.His708Asp	coding	Benign
17	80298494	C	T	C80298494T	RNF213	NM_001256071.3(RNF213):c.2186C>T:p.Pro729Leu	coding	Benign
17	80313186	G	C	G80313186C	RNF213	NM_001256071.3(RNF213):c.2811+19G>C	noncoding	Benign
17	80319389	A	T	A80319389T	RNF213	NM_001256071.3(RNF213):c.3024+77A>T	coding	Benign
17	80325126	G	A	G80325126A	RNF213	NM_001256071.3(RNF213):c.3121G>A:p.Ala1041Thr	coding	Benign
17	80328357	C	A	C80328357A	RNF213	NM_001256071.3(RNF213):c.3397C>A:p.Gln1133Lys	coding	Benign
17	80332071	G	A	G80332071A	RNF213	NM_001256071.3(RNF213):c.3583G>A:p.Val1195Met	coding	Benign
17	80332302	G	C	G80332302C	RNF213	NM_001256071.3(RNF213):c.3814G>C:p.Glu1272Gln	coding	Benign
17	80332480	A	G	A80332480G	RNF213	NM_001256071.3(RNF213):c.3992A>G:p.Asp1331Gly	coding	Benign
17	80332508	C	G	C80332508G	RNF213	NM_001256071.3(RNF213):c.4020C>G:p.Val1340=	coding	Benign
17	80337708	G	A	G80337708A	RNF213	NM_001256071.3(RNF213):c.4650G>A:p.Ala1550=	coding	Benign
17	80339232	C	T	C80339232T	RNF213	NM_001256071.3(RNF213):c.4865C>T:p.Ala1622Val	coding	Pathogenic
17	80339762	C	T	C80339762T	RNF213	NM_001256071.3(RNF213):c.5395C>T:p.Leu1799=	coding	Benign
17	80343311	G	A	G80343311A	RNF213	NM_001256071.3(RNF213):c.6169G>A:p.Asp2057Asn	coding	Pathogenic
17	80343839	G	A	G80343839A	RNF213	NM_001256071.3(RNF213):c.6184-18G>A	noncoding	Benign
17	80345336	G	A	G80345336A	RNF213	NM_001256071.3(RNF213):c.7001G>A:p.Ser2334Asn	coding	Benign
17	80345580	G	C	G80345580C	RNF213	NM_001256071.3(RNF213):c.7245G>C:p.Pro2415=	coding	Benign
17	80346933	C	T	C80346933T	RNF213	NM_001256071.3(RNF213):c.8598C>T:p.Asp2866=	coding	Benign
17	80347357	T	C	T80347357C	RNF213	NM_001256071.3(RNF213):c.9022T>C:p.Cys3008Arg	coding	Benign
17	80353074	G	A	G80353074A	RNF213	NM_001256071.3(RNF213):c.10423+15G>A	coding	Benign
17	80353558	G	A	G80353558A	RNF213	NM_001256071.3(RNF213):c.10470G>A:p.Glu3490=	coding	Benign
17	80361810	G	A	G80361810A	RNF213	NM_001256071.3(RNF213):c.11277G>A:p.Pro3759=	coding	Benign
17	80363258	G	C	G80363258C	RNF213	NM_001256071.3(RNF213):c.11512G>C:p.Val3838Leu	coding	Benign
17	80363784	A	G	A80363784G	RNF213	NM_001256071.3(RNF213):c.11744A>G:p.Glu3915Gly	coding	Benign
17	80367976	G	A	G80367976A	RNF213	NM_001256071.3(RNF213):c.11988G>A:p.Pro3996=	coding	Benign
17	80368025	G	A	G80368025A	RNF213	NM_001256071.3(RNF213):c.12037G>A:p.Asp4013Asn	coding	Pathogenic
17	80369833	C	T	C80369833T	RNF213	NM_001256071.3(RNF213):c.12391C>T:p.Arg4131Cys	coding	Pathogenic
17	80372748	G	A	G80372748A	RNF213	NM_001256071.3(RNF213):c.12751+14G>A	noncoding	Benign
17	80373030	G	A	G80373030A	RNF213	NM_001256071.3(RNF213):c.12807G>A:p.Arg4269=	coding	Benign
17	80373070	C	A	C80373070A	RNF213	NM_001256071.3(RNF213):c.12847C>A:p.Leu4283Ile	coding	Benign
17	80374441	T	A	T80374441A	RNF213	NM_001256071.3(RNF213):c.12943-17T>A	noncoding	Benign
17	80374538	G	A	G80374538A	RNF213	NM_001256071.3(RNF213):c.13023G>A:p.Val4341=	coding	Benign
17	80376288	T	C	T80376288C	RNF213	NM_001256071.3(RNF213):c.13186-13T>C	noncoding	Benign
17	80376976	G	T	G80376976T	RNF213	NM_001256071.3(RNF213):c.13510+13G>T	noncoding	Benign
17	80376983	T	C	T80376983C	RNF213	NM_001256071.3(RNF213):c.13510+20T>C	noncoding	Benign
17	80380861	C	T	C80380861T	RNF213	NM_001256071.3(RNF213):c.13671C>T:p.His4557=	coding	Benign
17	80381694	C	G	C80381694G	RNF213	NM_001256071.3(RNF213):c.13945C>G:p.Leu4649Val	coding	Benign
17	80383678	A	G	A80383678G	RNF213	NM_001256071.3(RNF213):c.14072A>G:p.His4691Arg	coding	Benign
17	80389254	G	A	G80389254A	RNF213	NM_001256071.3(RNF213):c.15082G>A:p.Val5028Ile	coding	Benign
17	80389911	G	A	G80389911A	RNF213	NM_001256071.3(RNF213):c.15279G>A:p.Leu5093=	coding	Benign
17	80389937	C	T	C80389937T	RNF213	NM_001256071.3(RNF213):c.15285+20C>T	noncoding	Benign
17	80390047	G	A	G80390047A	RNF213	NM_001256071.3(RNF213):c.15321G>A:p.Ala5107=	coding	Benign
17	80393425	A	C	A80393425C	RNF213	NM_001256071.3(RNF213):c.15551A>C:p.Glu5184Ala	coding	Benign
17	81239341	C	T	C81239341T	NDUFAF8	NM_001086521.2(NDUFAF8):c.-23C>T	noncoding	Benign
17	81239505	G	A	G81239505A	NDUFAF8	NM_001086521.2(NDUFAF8):c.84+58G>A	noncoding	Benign
17	81239704	C	G	C81239704G	NDUFAF8	NM_001086521.2(NDUFAF8):c.195+26C>G	noncoding	Benign
17	81240922	A	G	A81240922G	NDUFAF8	NM_001086521.2(NDUFAF8):c.196-65A>G	noncoding	Benign
17	81241219	C	T	C81241219T	NDUFAF8	NM_001086521.2(NDUFAF8):c.*203C>T	noncoding	Benign
17	81510406	T	C	T81510406C	ACTG1	NM_001614.5(ACTG1):c.*284A>G	noncoding	Benign
17	81510491	T	A	T81510491A	ACTG1	NM_001614.5(ACTG1):c.*199A>T	noncoding	Benign
17	81510498	C	G	C81510498G	ACTG1	NM_001614.5(ACTG1):c.*192G>C	noncoding	Benign
17	81510544	T	C	T81510544C	ACTG1	NM_001614.5(ACTG1):c.*146A>G	noncoding	Benign
17	81510547	C	G	C81510547G	ACTG1	NM_001614.5(ACTG1):c.*143G>C	noncoding	Benign
17	81510562	A	C	A81510562C	ACTG1	NM_001614.5(ACTG1):c.*128T>G	noncoding	Benign
17	81510564	G	C	G81510564C	ACTG1	NM_001614.5(ACTG1):c.*126C>G	noncoding	Benign
17	81510658	T	C	T81510658C	ACTG1	NM_001614.5(ACTG1):c.*32A>G	noncoding	Benign
17	81510688	G	A	G81510688A	ACTG1	NM_001614.5(ACTG1):c.*2C>T	noncoding	Benign
17	81510815	G	A	G81510815A	ACTG1	NM_001614.5(ACTG1):c.1003C>T:p.Arg335Cys	coding	Pathogenic/Likely_pathogenic
17	81510871	C	T	C81510871T	ACTG1	NM_001614.5(ACTG1):c.985-38G>A	noncoding	Benign
17	81510933	C	T	C81510933T	ACTG1	NM_001614.5(ACTG1):c.978G>A:p.Lys326=	coding	Benign/Likely_benign
17	81511041	G	A	G81511041A	ACTG1	NM_001614.5(ACTG1):c.870C>T:p.Arg290=	coding	Benign
17	81511050	C	T	C81511050T	ACTG1	NM_001614.5(ACTG1):c.861G>A:p.Val287=	coding	Benign/Likely_benign
17	81511081	G	A	G81511081A	ACTG1	NM_001614.5(ACTG1):c.830C>T:p.Thr277Ile	coding	Pathogenic
17	81511151	G	A	G81511151A	ACTG1	NM_001614.5(ACTG1):c.802+37C>T	noncoding	Benign
17	81511154	G	T	G81511154T	ACTG1	NM_001614.5(ACTG1):c.802+34C>A	noncoding	Benign
17	81511166	A	T	A81511166T	ACTG1	NM_001614.5(ACTG1):c.802+22T>A	noncoding	Benign
17	81511361	C	T	C81511361T	ACTG1	NM_001614.5(ACTG1):c.629G>A:p.Arg210His	coding	Pathogenic/Likely_pathogenic
17	81511362	G	A	G81511362A	ACTG1	NM_001614.5(ACTG1):c.628C>T:p.Arg210Cys	coding	Pathogenic
17	81511378	G	A	G81511378A	ACTG1	NM_001614.5(ACTG1):c.612C>T:p.Ala204=	coding	Benign
17	81511426	G	A	G81511426A	ACTG1	NM_001614.5(ACTG1):c.564C>T:p.Tyr188=	coding	Benign
17	81511504	C	T	C81511504T	ACTG1	NM_001614.5(ACTG1):c.486G>A:p.Thr162=	coding	Benign/Likely_benign
17	81511635	G	A	G81511635A	ACTG1	NM_001614.5(ACTG1):c.364-9C>T	noncoding	Benign
17	81511636	G	A	G81511636A	ACTG1	NM_001614.5(ACTG1):c.364-10C>T	noncoding	Benign/Likely_benign
17	81511725	G	A	G81511725A	ACTG1	NM_001614.5(ACTG1):c.364-99C>T	noncoding	Benign
17	81511739	G	A	G81511739A	ACTG1	NM_001614.5(ACTG1):c.364-113C>T	noncoding	Benign
17	81511779	G	A	G81511779A	ACTG1	NM_001614.5(ACTG1):c.363+124C>T	noncoding	Benign
17	81511788	G	T	G81511788T	ACTG1	NM_001614.5(ACTG1):c.363+115C>A	noncoding	Benign
17	81511843	G	A	G81511843A	ACTG1	NM_001614.5(ACTG1):c.363+60C>T	noncoding	Benign
17	81511847	G	A	G81511847A	ACTG1	NM_001614.5(ACTG1):c.363+56C>T	noncoding	Benign
17	81511851	G	A	G81511851A	ACTG1	NM_001614.5(ACTG1):c.363+52C>T	noncoding	Benign
17	81511872	G	C	G81511872C	ACTG1	NM_001614.5(ACTG1):c.363+31C>G	noncoding	Benign
17	81511898	C	T	C81511898T	ACTG1	NM_001614.5(ACTG1):c.363+5G>A	noncoding	Benign/Likely_benign
17	81511913	T	A	T81511913A	ACTG1	NM_001614.5(ACTG1):c.353A>T:p.Lys118Met	coding	Pathogenic
17	81511951	C	T	C81511951T	ACTG1	NM_001614.5(ACTG1):c.315G>A:p.Leu105=	coding	Benign/Likely_benign
17	81512057	G	A	G81512057A	ACTG1	NM_001614.5(ACTG1):c.209C>T:p.Pro70Leu	coding	Pathogenic
17	81512107	G	A	G81512107A	ACTG1	NM_001614.5(ACTG1):c.159C>T:p.Tyr53=	coding	Benign/Likely_benign
17	81512250	G	A	G81512250A	ACTG1	NM_001614.5(ACTG1):c.105C>T:p.Val35=	coding	Benign/Likely_benign
17	81512261	G	A	G81512261A	ACTG1	NM_001614.5(ACTG1):c.94C>T:p.Pro32Ser	coding	Pathogenic/Likely_pathogenic
17	81512289	A	C	A81512289C	ACTG1	NM_001614.5(ACTG1):c.66T>G:p.Ala22=	coding	Benign/Likely_benign
17	81512310	G	A	G81512310A	ACTG1	NM_001614.5(ACTG1):c.45C>T:p.Gly15=	coding	Benign/Likely_benign
17	81512386	C	T	C81512386T	ACTG1	NM_001614.5(ACTG1):c.-6-26G>A	noncoding	Benign
17	81512391	G	A	G81512391A	ACTG1	NM_001614.5(ACTG1):c.-6-31C>T	noncoding	Benign
17	81512391	G	C	G81512391C	ACTG1	NM_001614.5(ACTG1):c.-6-31C>G	noncoding	Benign
17	81512393	G	A	G81512393A	ACTG1	NM_001614.5(ACTG1):c.-6-33C>T	noncoding	Benign
17	81512397	G	A	G81512397A	ACTG1	NM_001614.5(ACTG1):c.-6-37C>T	noncoding	Benign
17	81512443	A	C	A81512443C	ACTG1	NM_001614.5(ACTG1):c.-6-83T>G	noncoding	Benign
17	81512583	C	G	C81512583G	ACTG1	NM_001614.5(ACTG1):c.-7+151G>C	noncoding	Benign
17	81512698	C	T	C81512698T	ACTG1	NM_001614.5(ACTG1):c.-7+36G>A	noncoding	Benign
17	81512782	C	T	C81512782T	ACTG1	NM_001614.5(ACTG1):c.-55G>A	noncoding	Benign
17	81529083	C	T	C81529083T	FSCN2	NM_012418.4(FSCN2):c.552C>T:p.Tyr184=	coding	Benign
17	81536243	C	T	C81536243T	FSCN2	NM_012418.4(FSCN2):c.1081C>T:p.Leu361=	coding	Benign
17	81645371	A	G	A81645371G	TSPAN10	NM_001290212.2(TSPAN10):c.416A>G:p.Tyr139Cys	coding	Benign
17	81651629	C	T	C81651629T	PDE6G	NM_002602.4(PDE6G):c.187+16G>A	noncoding	Benign
17	81703243	T	C	T81703243C	MRPL12	Single_allele	noncoding	Benign
17	81703356	A	G	A81703356G	MRPL12	Single_allele	noncoding	Benign
17	81703545	G	A	G81703545A	MRPL12	NM_002949.4(MRPL12):c.44G>A:p.Gly15Glu	coding	Benign
17	81703666	G	A	G81703666A	MRPL12	NM_002949.4(MRPL12):c.74+91G>A	noncoding	Benign
17	81706779	T	C	T81706779C	MRPL12	NM_002949.4(MRPL12):c.346-127T>C	noncoding	Benign
17	81707064	G	A	G81707064A	MRPL12	NM_002949.4(MRPL12):c.480+24G>A	noncoding	Benign
17	81707345	C	T	C81707345T	MRPL12	NM_002949.4(MRPL12):c.*105C>T	noncoding	Benign
17	81809773	G	A	G81809773A	GCGR	NM_000160.5(GCGR):c.61-9G>A	noncoding	Benign
17	81810848	G	A	G81810848A	GCGR	NM_000160.5(GCGR):c.187G>A:p.Asp63Asn	coding	Pathogenic
17	81810917	C	T	C81810917T	GCGR	NM_000160.5(GCGR):c.256C>T:p.Pro86Ser	coding	Pathogenic
17	81811078	C	G	C81811078G	GCGR	NM_000160.5(GCGR):c.340C>G:p.Pro114Ala	coding	Benign
17	81811141	C	A	C81811141A	GCGR	NM_000160.5(GCGR):c.393+10C>A	noncoding	Benign
17	81811293	C	G	C81811293G	GCGR	NM_000160.5(GCGR):c.465C>G:p.Ala155=	coding	Benign
17	81811577	G	A	G81811577A	GCGR	NM_000160.5(GCGR):c.657+17G>A	noncoding	Benign
17	81811803	C	T	C81811803T	GCGR	NM_000160.5(GCGR):c.810C>T:p.Ile270=	coding	Benign
17	81811958	C	T	C81811958T	GCGR	NM_000160.5(GCGR):c.878+12C>T	noncoding	Benign
17	81812182	G	A	G81812182A	GCGR	NM_000160.5(GCGR):c.879-1G>A	noncoding	Pathogenic
17	81812559	C	T	C81812559T	GCGR	NM_000160.5(GCGR):c.949-18C>T	noncoding	Benign
17	81812864	C	T	C81812864T	GCGR	NM_000160.5(GCGR):c.1095C>T:p.Phe365=	coding	Benign
17	81812960	G	A	G81812960A	GCGR	NM_000160.5(GCGR):c.1176+15G>A	noncoding	Benign
17	81813469	C	T	C81813469T	GCGR	NM_000160.5(GCGR):c.1219-5C>T	noncoding	Benign
17	81843795	T	G	T81843795G	P4HB	NM_000918.4(P4HB):c.*217A>C	noncoding	Benign
17	81844101	C	T	C81844101T	P4HB	NM_000918.4(P4HB):c.1447-9G>A	noncoding	Benign
17	81844179	G	A	G81844179A	P4HB	NM_000918.4(P4HB):c.1447-87C>T	noncoding	Benign
17	81845074	A	C	A81845074C	P4HB	NM_000918.4(P4HB):c.1446+70T>G	noncoding	Benign
17	81845225	A	G	A81845225G	P4HB	NM_000918.4(P4HB):c.1365T>C:p.Ile455=	coding	Benign
17	81845541	C	T	C81845541T	P4HB	NM_000918.4(P4HB):c.1359+20G>A	noncoding	Benign
17	81845557	G	A	G81845557A	P4HB	NM_000918.4(P4HB):c.1359+4C>T	noncoding	Benign
17	81845618	G	A	G81845618A	P4HB	NM_000918.4(P4HB):c.1302C>T:p.Ala434=	coding	Benign/Likely_benign
17	81846113	G	A	G81846113A	P4HB	NM_000918.4(P4HB):c.1057-122C>T	noncoding	Benign
17	81846452	G	C	G81846452C	P4HB	NM_000918.4(P4HB):c.1033C>G:p.Arg345Gly	coding	Benign
17	81846611	C	T	C81846611T	P4HB	NM_000918.4(P4HB):c.874G>A:p.Asp292Asn	coding	Benign
17	81846845	A	G	A81846845G	P4HB	NM_000918.4(P4HB):c.855+102T>C	noncoding	Benign
17	81846994	C	T	C81846994T	P4HB	NM_000918.4(P4HB):c.808G>A:p.Gly270Ser	coding	Benign
17	81847127	A	G	A81847127G	P4HB	NM_000918.4(P4HB):c.730-55T>C	noncoding	Benign
17	81847137	T	C	T81847137C	P4HB	NM_000918.4(P4HB):c.730-65A>G	noncoding	Benign
17	81847239	G	A	G81847239A	P4HB	NM_000918.4(P4HB):c.729+4C>T	noncoding	Benign
17	81847249	G	A	G81847249A	P4HB	NM_000918.4(P4HB):c.723C>T:p.Thr241=	coding	Benign
17	81847258	G	A	G81847258A	P4HB	NM_000918.4(P4HB):c.714C>T:p.Ile238=	coding	Benign
17	81847334	C	T	C81847334T	P4HB	NM_000918.4(P4HB):c.638G>A:p.Arg213Gln	coding	Benign
17	81847360	A	G	A81847360G	P4HB	NM_000918.4(P4HB):c.625-13T>C	noncoding	Benign
17	81847493	A	G	A81847493G	P4HB	NM_000918.4(P4HB):c.625-146T>C	noncoding	Benign
17	81854952	A	G	A81854952G	P4HB	NM_000918.4(P4HB):c.624+190T>C	noncoding	Benign
17	81854999	C	A	C81854999A	P4HB	NM_000918.4(P4HB):c.624+143G>T	noncoding	Benign
17	81855048	G	A	G81855048A	P4HB	NM_000918.4(P4HB):c.624+94C>T	noncoding	Benign
17	81855509	C	T	C81855509T	P4HB	NM_000918.4(P4HB):c.430G>A:p.Ala144Thr	coding	Benign
17	81855535	G	A	G81855535A	P4HB	NM_000918.4(P4HB):c.404C>T:p.Pro135Leu	coding	Benign
17	81859050	C	T	C81859050T	P4HB	NM_000918.4(P4HB):c.352+131G>A	noncoding	Benign
17	81859129	G	A	G81859129A	P4HB	NM_000918.4(P4HB):c.352+52C>T	noncoding	Benign
17	81859448	C	T	C81859448T	P4HB	NM_000918.4(P4HB):c.146-61G>A	noncoding	Benign
17	81860176	T	G	T81860176G	P4HB	NM_000918.4(P4HB):c.145+151A>C	noncoding	Benign
17	81860283	T	C	T81860283C	P4HB	NM_000918.4(P4HB):c.145+44A>G	noncoding	Benign
17	81860339	G	A	G81860339A	P4HB	NM_000918.4(P4HB):c.133C>T:p.Leu45=	coding	Benign
17	81860368	G	A	G81860368A	P4HB	NM_000918.4(P4HB):c.104C>T:p.Ala35Val	coding	Benign
17	81860384	G	T	G81860384T	P4HB	NM_000918.4(P4HB):c.88C>A:p.Arg30=	coding	Benign
17	81860484	T	G	T81860484G	P4HB	NM_000918.4(P4HB):c.-13A>C	noncoding	Benign
17	81860900	A	G	A81860900G	P4HB	Single_allele	noncoding	Benign
17	81869252	C	T	C81869252T	ARHGDIA	NM_004309.6(ARHGDIA):c.352-16G>A	noncoding	Benign
17	81869287	C	T	C81869287T	ARHGDIA	NM_004309.6(ARHGDIA):c.351+43G>A	noncoding	Benign
17	81869528	C	T	C81869528T	ARHGDIA	NM_004309.6(ARHGDIA):c.274+14G>A	coding	Benign/Likely_benign
17	81904728	C	G	C81904728G	PCYT2	NM_002861.5(PCYT2):c.*105G>C	noncoding	Benign
17	81904754	G	A	G81904754A	PCYT2	NM_002861.5(PCYT2):c.*79C>T	noncoding	Benign
17	81904948	A	G	A81904948G	PCYT2	NM_002861.5(PCYT2):c.1059-4T>C	noncoding	Benign
17	81905006	C	G	C81905006G	PCYT2	NM_002861.5(PCYT2):c.1058+60G>C	noncoding	Benign
17	81906207	G	A	G81906207A	PCYT2	NM_002861.5(PCYT2):c.760-30C>T	noncoding	Benign
17	81906551	A	G	A81906551G	PCYT2	NM_002861.5(PCYT2):c.677-5T>C	noncoding	Benign
17	81908547	A	G	A81908547G	PCYT2	NM_002861.5(PCYT2):c.407+21T>C	noncoding	Benign
17	81934395	T	C	T81934395C	PYCR1	NM_006907.4(PYCR1):c.728A>G:p.His243Arg	coding	Pathogenic
17	81935080	C	T	C81935080T	PYCR1	NM_006907.4(PYCR1):c.386G>A:p.Arg129Gln	coding	Benign
17	81935144	G	C	G81935144C	PYCR1	NM_006907.4(PYCR1):c.322C>G:p.Leu108Val	coding	Benign
17	81936086	G	A	G81936086A	PYCR1	NM_006907.4(PYCR1):c.138+37C>T	noncoding	Benign
17	81936746	A	T	A81936746T	PYCR1	NM_006907.4(PYCR1):c.67+2T>A	noncoding	Pathogenic
17	82032787	G	A	G82032787A	RAC3	NM_005052.3(RAC3):c.184G>A:p.Glu62Lys	coding	Pathogenic
17	82054573	G	A	G82054573A	GPS1	NM_001321092.3(GPS1):c.372G>A:p.Thr124=	coding	Benign
17	82054893	G	A	G82054893A	GPS1	NM_001321092.3(GPS1):c.610-5G>A	noncoding	Benign
17	82081152	A	G	A82081152G	FASN	NM_004104.5(FASN):c.6595+12T>C	noncoding	Benign
17	82081605	G	A	G82081605A	FASN	NM_004104.5(FASN):c.6402C>T:p.Ile2134=	coding	Benign
17	82081997	G	A	G82081997A	FASN	NM_004104.5(FASN):c.6163+12C>T	noncoding	Benign
17	82082172	C	G	C82082172G	FASN	NM_004104.5(FASN):c.6012-12G>C	noncoding	Benign
17	82082310	G	A	G82082310A	FASN	NM_004104.5(FASN):c.6011+13C>T	noncoding	Benign
17	82082566	C	T	C82082566T	FASN	NM_004104.5(FASN):c.5880G>A:p.Ala1960=	coding	Benign
17	82083590	G	A	G82083590A	FASN	NM_004104.5(FASN):c.5268C>T:p.Ser1756=	coding	Benign
17	82084493	C	T	C82084493T	FASN	NM_004104.5(FASN):c.4768+20G>A	noncoding	Benign
17	82084494	G	A	G82084494A	FASN	NM_004104.5(FASN):c.4768+19C>T	noncoding	Benign
17	82084916	C	T	C82084916T	FASN	NM_004104.5(FASN):c.4447G>A:p.Val1483Ile	coding	Benign
17	82085100	A	G	A82085100G	FASN	NM_004104.5(FASN):c.4344T>C:p.Cys1448=	coding	Benign
17	82085168	C	G	C82085168G	FASN	NM_004104.5(FASN):c.4288-12G>C	noncoding	Benign
17	82085169	G	A	G82085169A	FASN	NM_004104.5(FASN):c.4288-13C>T	noncoding	Benign
17	82085226	G	T	G82085226T	FASN	NM_004104.5(FASN):c.4287+12C>A	noncoding	Benign
17	82085473	C	T	C82085473T	FASN	NM_004104.5(FASN):c.4122+9G>A	noncoding	Benign
17	82085863	A	G	A82085863G	FASN	NM_004104.5(FASN):c.3741T>C:p.Ala1247=	coding	Benign
17	82085882	T	A	T82085882A	FASN	NM_004104.5(FASN):c.3733-11A>T	noncoding	Benign
17	82086335	G	A	G82086335A	FASN	NM_004104.5(FASN):c.3651C>T:p.Gly1217=	coding	Benign
17	82086341	G	C	G82086341C	FASN	NM_004104.5(FASN):c.3645C>G:p.Leu1215=	coding	Benign
17	82087210	G	C	G82087210C	FASN	NM_004104.5(FASN):c.3267C>G:p.Ala1089=	coding	Benign
17	82087271	G	A	G82087271A	FASN	NM_004104.5(FASN):c.3224-18C>T	noncoding	Benign
17	82087941	C	T	C82087941T	FASN	NM_004104.5(FASN):c.2866+13G>A	noncoding	Benign
17	82088048	G	A	G82088048A	FASN	NM_004104.5(FASN):c.2786-14C>T	noncoding	Benign
17	82088376	G	A	G82088376A	FASN	NM_004104.5(FASN):c.2593+14C>T	noncoding	Benign
17	82090394	C	T	C82090394T	FASN	NM_004104.5(FASN):c.1851G>A:p.Pro617=	coding	Benign
17	82090866	G	C	G82090866C	FASN	NM_004104.5(FASN):c.1680+16C>G	noncoding	Benign
17	82091085	C	T	C82091085T	FASN	NM_004104.5(FASN):c.1493-16G>A	noncoding	Benign
17	82091283	G	A	G82091283A	FASN	NM_004104.5(FASN):c.1431C>T:p.Arg477=	coding	Benign
17	82092884	C	T	C82092884T	FASN	NM_004104.5(FASN):c.778+13G>A	noncoding	Benign
17	82093307	A	G	A82093307G	FASN	NM_004104.5(FASN):c.567T>C:p.Asn189=	coding	Benign
17	82443774	C	T	C82443774T	CYBC1	NM_001033046.4(CYBC1):c.*230G>A	noncoding	Benign
17	82444070	A	G	A82444070G	CYBC1	NM_001033046.4(CYBC1):c.498T>C:p.Leu166=	coding	Benign
17	82444130	C	T	C82444130T	CYBC1	NM_001033046.4(CYBC1):c.444-6G>A	noncoding	Benign
17	82444165	G	A	G82444165A	CYBC1	NM_001033046.4(CYBC1):c.444-41C>T	noncoding	Benign
17	82444169	T	C	T82444169C	CYBC1	NM_001033046.4(CYBC1):c.444-45A>G	noncoding	Benign
17	82444278	C	A	C82444278A	CYBC1	NM_001033046.4(CYBC1):c.444-154G>T	noncoding	Benign
17	82444420	G	A	G82444420A	CYBC1	NM_001033046.4(CYBC1):c.443+27C>T	noncoding	Benign
17	82444530	G	A	G82444530A	CYBC1	NM_001033046.4(CYBC1):c.360C>T:p.Phe120=	coding	Benign
17	82444614	C	T	C82444614T	CYBC1	NM_001033046.4(CYBC1):c.299-23G>A	noncoding	Benign
17	82445871	G	A	G82445871A	CYBC1	NM_001033046.4(CYBC1):c.291C>T:p.His97=	coding	Benign
17	82446018	G	A	G82446018A	CYBC1	NM_001033046.4(CYBC1):c.202-58C>T	noncoding	Benign
17	82446075	C	T	C82446075T	CYBC1	NM_001033046.4(CYBC1):c.202-115G>A	noncoding	Benign
17	82446450	G	T	G82446450T	CYBC1	NM_001033046.4(CYBC1):c.201+173C>A	noncoding	Benign
17	82446604	G	A	G82446604A	CYBC1	NM_001033046.4(CYBC1):c.201+19C>T	noncoding	Benign
17	82446610	G	C	G82446610C	CYBC1	NM_001033046.4(CYBC1):c.201+13C>G	noncoding	Benign
17	82446670	C	T	C82446670T	CYBC1	NM_001033046.4(CYBC1):c.154G>A:p.Val52Ile	coding	Benign
17	82446679	G	A	G82446679A	CYBC1	NM_001033046.4(CYBC1):c.145C>T:p.Leu49Phe	coding	Benign
17	82446846	C	A	C82446846A	CYBC1	NM_001033046.4(CYBC1):c.128-150G>T	noncoding	Benign
17	82447567	G	T	G82447567T	CYBC1	NM_001033046.4(CYBC1):c.127+13C>A	noncoding	Benign
17	82447676	T	C	T82447676C	CYBC1	NM_001033046.4(CYBC1):c.86-55A>G	noncoding	Benign
17	82616656	A	G	A82616656G	WDR45B	NM_019613.4(WDR45B):c.807-11T>C	noncoding	Benign
17	82627157	T	A	T82627157A	WDR45B	NM_019613.4(WDR45B):c.332+47A>T	noncoding	Benign
17	82751954	C	T	C82751954T	TBCD	Single_allele	noncoding	Benign
17	82752221	G	T	G82752221T	TBCD	NM_005993.5(TBCD):c.28G>T:p.Gly10Cys	coding	Benign
17	82752223	C	T	C82752223T	TBCD	NM_005993.5(TBCD):c.30C>T:p.Gly10=	coding	Benign
17	82752391	G	A	G82752391A	TBCD	NM_005993.5(TBCD):c.184+14G>A	noncoding	Benign
17	82766389	C	G	C82766389G	TBCD	NM_005993.5(TBCD):c.435+21C>G	noncoding	Benign
17	82768216	G	A	G82768216A	TBCD	NM_005993.5(TBCD):c.436-204G>A	noncoding	Benign
17	82768384	A	G	A82768384G	TBCD	NM_005993.5(TBCD):c.436-36A>G	noncoding	Benign
17	82768402	C	T	C82768402T	TBCD	NM_005993.5(TBCD):c.436-18C>T	noncoding	Benign
17	82768458	C	T	C82768458T	TBCD	NM_005993.5(TBCD):c.474C>T:p.Ser158=	coding	Benign
17	82772587	G	A	G82772587A	TBCD	NM_005993.5(TBCD):c.638+80G>A	noncoding	Benign
17	82772651	T	C	T82772651C	TBCD	NM_005993.5(TBCD):c.638+144T>C	noncoding	Benign
17	82781734	C	T	C82781734T	TBCD	NM_005993.5(TBCD):c.771+13C>T	noncoding	Benign
17	82797884	T	G	T82797884G	TBCD	NM_005993.5(TBCD):c.817+82T>G	noncoding	Benign
17	82806107	C	T	C82806107T	TBCD	NM_005993.5(TBCD):c.1087+96C>T	noncoding	Benign
17	82806134	C	T	C82806134T	TBCD	NM_005993.5(TBCD):c.1087+123C>T	noncoding	Benign
17	82806135	G	A	G82806135A	TBCD	NM_005993.5(TBCD):c.1087+124G>A	noncoding	Benign
17	82807446	C	A	C82807446A	TBCD	NM_005993.5(TBCD):c.1088-162C>A	noncoding	Benign
17	82809692	T	C	T82809692C	TBCD	NM_005993.5(TBCD):c.1149-16T>C	noncoding	Benign
17	82814688	T	C	T82814688C	TBCD	NM_005993.5(TBCD):c.1224-152T>C	noncoding	Benign
17	82815056	C	T	C82815056T	TBCD	NM_005993.5(TBCD):c.1318+122C>T	noncoding	Benign
17	82830589	T	C	T82830589C	ZNF750	NM_024702.3(ZNF750):c.1725A>G:p.Ala575=	coding	Benign
17	82830616	A	G	A82830616G	ZNF750	NM_024702.3(ZNF750):c.1698T>C:p.Pro566=	coding	Benign
17	82831393	G	A	G82831393A	ZNF750	NM_024702.3(ZNF750):c.1062C>T:p.Thr354=	coding	Benign
17	82832512	G	A	G82832512A	TBCD	NM_005993.5(TBCD):c.1318+17578G>A	coding	Benign
17	82832566	T	G	T82832566G	ZNF750	NM_024702.3(ZNF750):c.-112A>C	coding	Benign
17	82832735	A	G	A82832735G	ZNF750	NM_024702.3(ZNF750):c.-182-99T>C	noncoding	Benign
17	82832896	T	C	T82832896C	ZNF750	NM_024702.3(ZNF750):c.-182-260A>G	noncoding	Benign
17	82870027	C	T	C82870027T	TBCD	NM_005993.5(TBCD):c.1319-197C>T	noncoding	Benign
17	82870079	A	G	A82870079G	TBCD	NM_005993.5(TBCD):c.1319-145A>G	noncoding	Benign
17	82870181	G	A	G82870181A	TBCD	NM_005993.5(TBCD):c.1319-43G>A	noncoding	Benign
17	82870327	C	T	C82870327T	TBCD	NM_005993.5(TBCD):c.1422C>T:p.Phe474=	coding	Benign
17	82870395	C	T	C82870395T	TBCD	NM_005993.5(TBCD):c.1475+15C>T	noncoding	Benign
17	82870405	C	T	C82870405T	TBCD	NM_005993.5(TBCD):c.1475+25C>T	noncoding	Benign
17	82870427	G	A	G82870427A	TBCD	NM_005993.5(TBCD):c.1475+47G>A	noncoding	Benign
17	82870433	G	A	G82870433A	TBCD	NM_005993.5(TBCD):c.1475+53G>A	noncoding	Benign
17	82884019	G	T	G82884019T	TBCD	NM_005993.5(TBCD):c.1476-126G>T	noncoding	Benign
17	82884148	A	C	A82884148C	TBCD	NM_005993.5(TBCD):c.1479A>C:p.Ala493=	coding	Benign
17	82884375	G	A	G82884375A	TBCD	NM_005993.5(TBCD):c.1533+173G>A	noncoding	Benign
17	82900793	G	A	G82900793A	TBCD	NM_005993.5(TBCD):c.1730+62G>A	noncoding	Benign
17	82903330	A	G	A82903330G	TBCD	NM_005993.5(TBCD):c.1731-75A>G	noncoding	Benign
17	82903491	C	G	C82903491G	TBCD	NM_005993.5(TBCD):c.1804+13C>G	noncoding	Benign
17	82905832	C	T	C82905832T	TBCD	NM_005993.5(TBCD):c.1805-104C>T	noncoding	Benign
17	82905981	T	C	T82905981C	TBCD	NM_005993.5(TBCD):c.1850T>C:p.Met617Thr	coding	Benign
17	82906247	T	C	T82906247C	TBCD	NM_005993.5(TBCD):c.1922+194T>C	noncoding	Benign
17	82907650	G	A	G82907650A	TBCD	NM_005993.5(TBCD):c.1923-111G>A	noncoding	Benign
17	82907795	C	T	C82907795T	TBCD	NM_005993.5(TBCD):c.1957C>T:p.Gln653Ter	coding	Pathogenic
17	82907990	T	C	T82907990C	TBCD	NM_005993.5(TBCD):c.1983+169T>C	noncoding	Benign
17	82909123	C	T	C82909123T	TBCD	NM_005993.5(TBCD):c.1984-162C>T	noncoding	Benign
17	82909277	A	G	A82909277G	TBCD	NM_005993.5(TBCD):c.1984-8A>G	noncoding	Benign
17	82909405	C	A	C82909405A	TBCD	NM_005993.5(TBCD):c.2006+98C>A	noncoding	Benign
17	82911552	C	T	C82911552T	TBCD	NM_005993.5(TBCD):c.2007-206C>T	noncoding	Benign
17	82911556	G	A	G82911556A	TBCD	NM_005993.5(TBCD):c.2007-202G>A	noncoding	Benign
17	82911674	C	G	C82911674G	TBCD	NM_005993.5(TBCD):c.2007-84C>G	noncoding	Benign
17	82911830	C	G	C82911830G	TBCD	NM_005993.5(TBCD):c.2038+41C>G	noncoding	Benign
17	82911899	T	C	T82911899C	TBCD	NM_005993.5(TBCD):c.2038+110T>C	noncoding	Benign
17	82920387	G	C	G82920387C	TBCD	NM_005993.5(TBCD):c.2039-169G>C	noncoding	Benign
17	82920513	A	G	A82920513G	TBCD	NM_005993.5(TBCD):c.2039-43A>G	noncoding	Benign
17	82920732	A	G	A82920732G	TBCD	NM_005993.5(TBCD):c.2101+114A>G	noncoding	Benign
17	82920797	C	T	C82920797T	TBCD	NM_005993.5(TBCD):c.2101+179C>T	noncoding	Benign
17	82921449	G	T	G82921449T	TBCD	NM_005993.5(TBCD):c.2102-52G>T	noncoding	Benign
17	82923574	G	C	G82923574C	TBCD	NM_005993.5(TBCD):c.2179-78G>C	noncoding	Benign
17	82924923	C	T	C82924923T	TBCD	NM_005993.5(TBCD):c.2261-16C>T	noncoding	Benign
17	82925271	A	C	A82925271C	TBCD	NM_005993.5(TBCD):c.2379+214A>C	noncoding	Benign
17	82926371	T	C	T82926371C	TBCD	NM_005993.5(TBCD):c.2380-29T>C	noncoding	Benign
17	82927172	A	C	A82927172C	TBCD	NM_005993.5(TBCD):c.2472-14A>C	noncoding	Benign
17	82929318	G	A	G82929318A	TBCD	NM_005993.5(TBCD):c.2853-44G>A	noncoding	Benign
17	82929330	A	G	A82929330G	TBCD	NM_005993.5(TBCD):c.2853-32A>G	noncoding	Benign
17	82929368	T	C	T82929368C	TBCD	NM_005993.5(TBCD):c.2859T>C:p.Asp953=	coding	Benign
17	82929575	A	G	A82929575G	TBCD	NM_005993.5(TBCD):c.2991+75A>G	noncoding	Benign
17	82930286	C	G	C82930286G	TBCD	NM_005993.5(TBCD):c.2992-236C>G	noncoding	Benign
17	82930288	A	G	A82930288G	TBCD	NM_005993.5(TBCD):c.2992-234A>G	noncoding	Benign
17	82930372	G	A	G82930372A	TBCD	NM_005993.5(TBCD):c.2992-150G>A	noncoding	Benign
17	82930455	G	A	G82930455A	TBCD	NM_005993.5(TBCD):c.2992-67G>A	noncoding	Benign
17	82932762	T	C	T82932762C	TBCD	NM_005993.5(TBCD):c.3191+27T>C	noncoding	Benign
17	82937098	T	C	T82937098C	TBCD	NM_005993.5(TBCD):c.3192-173T>C	noncoding	Benign
17	82937377	G	A	G82937377A	TBCD	NM_005993.5(TBCD):c.3281+17G>A	noncoding	Benign
17	82937380	G	A	G82937380A	TBCD	NM_005993.5(TBCD):c.3281+20G>A	noncoding	Benign
17	82937869	T	C	T82937869C	TBCD	NM_005993.5(TBCD):c.3282-180T>C	noncoding	Benign
17	82937893	A	G	A82937893G	TBCD	NM_005993.5(TBCD):c.3282-156A>G	noncoding	Benign
17	82938057	A	G	A82938057G	TBCD	NM_005993.5(TBCD):c.3290A>G:p.Glu1097Gly	coding	Benign
17	82938239	C	T	C82938239T	TBCD	NM_005993.5(TBCD):c.3369+103C>T	noncoding	Benign
17	82938286	G	A	G82938286A	TBCD	NM_005993.5(TBCD):c.3369+150G>A	noncoding	Benign
17	82939339	C	T	C82939339T	TBCD	NM_005993.5(TBCD):c.3370-28C>T	noncoding	Benign
17	82939616	A	G	A82939616G	TBCD	NM_005993.5(TBCD):c.3479+140A>G	noncoding	Benign
17	82941405	G	A	G82941405A	TBCD	NM_005993.5(TBCD):c.3486G>A:p.Ala1162=	coding	Benign
17	82941513	G	T	G82941513T	TBCD	NM_005993.5(TBCD):c.3564+30G>T	noncoding	Benign
17	82941631	C	T	C82941631T	TBCD	NM_005993.5(TBCD):c.3564+148C>T	noncoding	Benign
18	203081	A	C	A203081C	USP14	NM_005151.4(USP14):c.943-17A>C	noncoding	Benign
18	662209	C	T	C662209T	TYMS	NM_001071.4(TYMS):c.343C>T:p.Arg115Ter	coding	Pathogenic
18	669174	G	A	G669174A	TYMS	NM_001071.4(TYMS):c.556+1G>A	coding	Pathogenic
18	672866	C	T	C672866T	TYMS	NM_001071.4(TYMS):c.811C>T:p.Arg271Ter	coding	Pathogenic
18	673086	A	G	A673086G	ENOSF1	NM_017512.7(ENOSF1):c.*1219T>C	noncoding	Benign
18	2655552	G	A	G2655552A	SMCHD1	Single_allele	noncoding	Benign
18	2655612	C	T	C2655612T	SMCHD1	Single_allele	noncoding	Benign
18	2655706	A	G	A2655706G	SMCHD1	Single_allele	noncoding	Benign
18	2666047	A	C	A2666047C	SMCHD1	NM_015295.3(SMCHD1):c.187-110A>C	noncoding	Benign
18	2666085	T	C	T2666085C	SMCHD1	NM_015295.3(SMCHD1):c.187-72T>C	noncoding	Benign
18	2666257	G	C	G2666257C	SMCHD1	NM_015295.3(SMCHD1):c.262+25G>C	noncoding	Benign
18	2666280	T	C	T2666280C	SMCHD1	NM_015295.3(SMCHD1):c.262+48T>C	noncoding	Benign
18	2666706	T	G	T2666706G	SMCHD1	NM_015295.3(SMCHD1):c.263-164T>G	noncoding	Benign
18	2666947	C	T	C2666947T	SMCHD1	NM_015295.3(SMCHD1):c.340C>T:p.Arg114Ter	coding	Pathogenic
18	2667064	T	C	T2667064C	SMCHD1	NM_015295.3(SMCHD1):c.424+33T>C	noncoding	Benign
18	2673078	A	G	A2673078G	SMCHD1	NM_015295.3(SMCHD1):c.425-203A>G	noncoding	Benign
18	2673204	A	G	A2673204G	SMCHD1	NM_015295.3(SMCHD1):c.425-77A>G	noncoding	Benign
18	2673509	C	T	C2673509T	SMCHD1	NM_015295.3(SMCHD1):c.507+146C>T	noncoding	Benign
18	2674254	T	C	T2674254C	SMCHD1	NM_015295.3(SMCHD1):c.638+109T>C	noncoding	Benign
18	2674369	T	C	T2674369C	SMCHD1	NM_015295.3(SMCHD1):c.638+224T>C	noncoding	Benign
18	2688165	C	A	C2688165A	SMCHD1	NM_015295.3(SMCHD1):c.639-229C>A	noncoding	Benign
18	2688272	C	T	C2688272T	SMCHD1	NM_015295.3(SMCHD1):c.639-122C>T	noncoding	Benign
18	2688308	A	G	A2688308G	SMCHD1	NM_015295.3(SMCHD1):c.639-86A>G	noncoding	Benign
18	2688800	G	A	G2688800A	SMCHD1	NM_015295.3(SMCHD1):c.873+53G>A	noncoding	Benign
18	2688943	T	C	T2688943C	SMCHD1	NM_015295.3(SMCHD1):c.873+196T>C	noncoding	Benign
18	2694969	G	A	G2694969A	SMCHD1	NM_015295.3(SMCHD1):c.1040+276G>A	noncoding	Benign
18	2696833	C	T	C2696833T	SMCHD1	NM_015295.3(SMCHD1):c.1041-199C>T	noncoding	Benign
18	2697685	A	G	A2697685G	SMCHD1	NM_015295.3(SMCHD1):c.1132-146A>G	noncoding	Benign
18	2698127	T	C	T2698127C	SMCHD1	NM_015295.3(SMCHD1):c.1342+86T>C	noncoding	Benign
18	2698174	A	G	A2698174G	SMCHD1	NM_015295.3(SMCHD1):c.1342+133A>G	noncoding	Benign
18	2698248	G	T	G2698248T	SMCHD1	NM_015295.3(SMCHD1):c.1342+207G>T	noncoding	Benign
18	2700206	G	A	G2700206A	SMCHD1	NM_015295.3(SMCHD1):c.1343-333G>A	noncoding	Benign
18	2700592	A	T	A2700592T	SMCHD1	NM_015295.3(SMCHD1):c.1396A>T:p.Arg466Ter	coding	Pathogenic
18	2700921	A	G	A2700921G	SMCHD1	NM_015295.3(SMCHD1):c.1647+3A>G	noncoding	Pathogenic
18	2701164	G	T	G2701164T	SMCHD1	NM_015295.3(SMCHD1):c.1647+246G>T	noncoding	Benign
18	2703695	C	T	C2703695T	SMCHD1	NM_015295.3(SMCHD1):c.1651C>T:p.Gln551Ter	coding	Pathogenic
18	2703830	T	G	T2703830G	SMCHD1	NM_015295.3(SMCHD1):c.1786T>G:p.Trp596Gly	coding	Pathogenic
18	2705617	A	G	A2705617G	SMCHD1	NM_015295.3(SMCHD1):c.1843-77A>G	noncoding	Benign
18	2705635	T	A	T2705635A	SMCHD1	NM_015295.3(SMCHD1):c.1843-59T>A	noncoding	Benign
18	2705676	T	A	T2705676A	SMCHD1	NM_015295.3(SMCHD1):c.1843-18T>A	noncoding	Benign/Likely_benign
18	2705677	T	A	T2705677A	SMCHD1	NM_015295.3(SMCHD1):c.1843-17T>A	noncoding	Benign
18	2706494	G	A	G2706494A	SMCHD1	NM_015295.3(SMCHD1):c.2063+24G>A	noncoding	Benign
18	2707277	G	A	G2707277A	SMCHD1	NM_015295.3(SMCHD1):c.2064-286G>A	noncoding	Benign
18	2708148	T	C	T2708148C	SMCHD1	NM_015295.3(SMCHD1):c.2260+228T>C	noncoding	Benign
18	2717885	A	G	A2717885G	SMCHD1	NM_015295.3(SMCHD1):c.2261-273A>G	noncoding	Benign
18	2718267	A	G	A2718267G	SMCHD1	NM_015295.3(SMCHD1):c.2338+32A>G	noncoding	Benign
18	2718353	C	T	C2718353T	SMCHD1	NM_015295.3(SMCHD1):c.2377C>T:p.Gln793Ter	coding	Pathogenic
18	2722688	T	G	T2722688G	SMCHD1	NM_015295.3(SMCHD1):c.2603+25T>G	noncoding	Benign
18	2722916	A	G	A2722916G	SMCHD1	NM_015295.3(SMCHD1):c.2603+253A>G	noncoding	Benign
18	2724898	G	T	G2724898T	SMCHD1	NM_015295.3(SMCHD1):c.2604-1G>T	noncoding	Pathogenic
18	2725200	A	G	A2725200G	SMCHD1	NM_015295.3(SMCHD1):c.2700+205A>G	noncoding	Benign
18	2725229	C	G	C2725229G	SMCHD1	NM_015295.3(SMCHD1):c.2700+234C>G	noncoding	Benign
18	2725235	G	A	G2725235A	SMCHD1	NM_015295.3(SMCHD1):c.2700+240G>A	noncoding	Benign
18	2725270	A	G	A2725270G	SMCHD1	NM_015295.3(SMCHD1):c.2700+275A>G	noncoding	Benign
18	2726235	C	G	C2726235G	SMCHD1	NM_015295.3(SMCHD1):c.2701-217C>G	noncoding	Benign
18	2726241	C	A	C2726241A	SMCHD1	NM_015295.3(SMCHD1):c.2701-211C>A	noncoding	Benign
18	2726367	C	G	C2726367G	SMCHD1	NM_015295.3(SMCHD1):c.2701-85C>G	noncoding	Benign
18	2726483	T	G	T2726483G	SMCHD1	NM_015295.3(SMCHD1):c.2732T>G:p.Leu911Ter	coding	Pathogenic
18	2728330	A	G	A2728330G	SMCHD1	NM_015295.3(SMCHD1):c.2774-127A>G	noncoding	Benign
18	2728688	T	A	T2728688A	SMCHD1	NM_015295.3(SMCHD1):c.2913+92T>A	noncoding	Benign
18	2728709	C	T	C2728709T	SMCHD1	NM_015295.3(SMCHD1):c.2913+113C>T	noncoding	Benign
18	2729172	C	A	C2729172A	SMCHD1	NM_015295.3(SMCHD1):c.2914-103C>A	noncoding	Benign
18	2729179	T	C	T2729179C	SMCHD1	NM_015295.3(SMCHD1):c.2914-96T>C	noncoding	Benign
18	2729634	T	C	T2729634C	SMCHD1	NM_015295.3(SMCHD1):c.3048+225T>C	noncoding	Benign
18	2729707	C	T	C2729707T	SMCHD1	NM_015295.3(SMCHD1):c.3048+298C>T	noncoding	Benign
18	2732012	A	G	A2732012G	SMCHD1	NM_015295.3(SMCHD1):c.3049-253A>G	noncoding	Benign
18	2732051	C	A	C2732051A	SMCHD1	NM_015295.3(SMCHD1):c.3049-214C>A	noncoding	Benign
18	2732263	A	G	A2732263G	SMCHD1	NM_015295.3(SMCHD1):c.3049-2A>G	noncoding	Pathogenic
18	2732669	A	T	A2732669T	SMCHD1	NM_015295.3(SMCHD1):c.3276+177A>T	noncoding	Benign
18	2732780	A	G	A2732780G	SMCHD1	NM_015295.3(SMCHD1):c.3276+288A>G	noncoding	Benign
18	2738114	C	T	C2738114T	SMCHD1	NM_015295.3(SMCHD1):c.3277-283C>T	noncoding	Benign
18	2738115	G	A	G2738115A	SMCHD1	NM_015295.3(SMCHD1):c.3277-282G>A	noncoding	Benign
18	2738164	T	C	T2738164C	SMCHD1	NM_015295.3(SMCHD1):c.3277-233T>C	noncoding	Benign
18	2738261	G	A	G2738261A	SMCHD1	NM_015295.3(SMCHD1):c.3277-136G>A	noncoding	Benign
18	2738582	C	T	C2738582T	SMCHD1	NM_015295.3(SMCHD1):c.3425+37C>T	noncoding	Benign
18	2739475	G	T	G2739475T	SMCHD1	NM_015295.3(SMCHD1):c.3469G>T:p.Gly1157Ter	coding	Pathogenic
18	2739735	G	A	G2739735A	SMCHD1	NM_015295.3(SMCHD1):c.3514+215G>A	noncoding	Benign
18	2739755	G	A	G2739755A	SMCHD1	NM_015295.3(SMCHD1):c.3514+235G>A	noncoding	Benign
18	2740627	G	A	G2740627A	SMCHD1	NM_015295.3(SMCHD1):c.3515-76G>A	noncoding	Benign
18	2741052	A	G	A2741052G	SMCHD1	NM_015295.3(SMCHD1):c.3633+231A>G	noncoding	Benign
18	2743726	C	T	C2743726T	SMCHD1	NM_015295.3(SMCHD1):c.3634-35C>T	noncoding	Benign
18	2743863	C	T	C2743863T	SMCHD1	NM_015295.3(SMCHD1):c.3736C>T:p.Arg1246Ter	coding	Pathogenic
18	2747592	A	G	A2747592G	SMCHD1	NM_015295.3(SMCHD1):c.3872A>G:p.Asn1291Ser	coding	Benign/Likely_benign
18	2747798	A	T	A2747798T	SMCHD1	NM_015295.3(SMCHD1):c.3927+151A>T	noncoding	Benign
18	2747842	A	G	A2747842G	SMCHD1	NM_015295.3(SMCHD1):c.3927+195A>G	noncoding	Benign
18	2747979	C	T	C2747979T	SMCHD1	NM_015295.3(SMCHD1):c.3927+332C>T	noncoding	Benign
18	2749910	A	G	A2749910G	SMCHD1	NM_015295.3(SMCHD1):c.3928-133A>G	noncoding	Benign
18	2750123	G	A	G2750123A	SMCHD1	NM_015295.3(SMCHD1):c.4007+1G>A	coding	Pathogenic
18	2750206	C	T	C2750206T	SMCHD1	NM_015295.3(SMCHD1):c.4007+84C>T	noncoding	Benign
18	2750240	A	G	A2750240G	SMCHD1	NM_015295.3(SMCHD1):c.4008-110A>G	noncoding	Benign
18	2750793	A	G	A2750793G	SMCHD1	NM_015295.3(SMCHD1):c.4165+286A>G	noncoding	Benign
18	2750808	C	T	C2750808T	SMCHD1	NM_015295.3(SMCHD1):c.4165+301C>T	noncoding	Benign
18	2751477	A	G	A2751477G	SMCHD1	NM_015295.3(SMCHD1):c.4281+84A>G	noncoding	Benign
18	2751639	T	C	T2751639C	SMCHD1	NM_015295.3(SMCHD1):c.4281+246T>C	noncoding	Benign
18	2752242	A	G	A2752242G	SMCHD1	NM_015295.3(SMCHD1):c.4282-246A>G	noncoding	Benign
18	2752553	G	T	G2752553T	SMCHD1	NM_015295.3(SMCHD1):c.4346+1G>T	coding	Pathogenic
18	2752839	G	A	G2752839A	SMCHD1	NM_015295.3(SMCHD1):c.4346+287G>A	noncoding	Benign
18	2760357	G	A	G2760357A	SMCHD1	NM_015295.3(SMCHD1):c.4347-295G>A	noncoding	Benign
18	2761925	C	G	C2761925G	SMCHD1	NM_015295.3(SMCHD1):c.4435-180C>G	noncoding	Benign
18	2761955	A	G	A2761955G	SMCHD1	NM_015295.3(SMCHD1):c.4435-150A>G	noncoding	Benign
18	2762191	A	G	A2762191G	SMCHD1	NM_015295.3(SMCHD1):c.4521A>G:p.Ser1507=	coding	Benign
18	2770203	T	C	T2770203C	SMCHD1	NM_015295.3(SMCHD1):c.4966+95T>C	noncoding	Benign
18	2771821	A	G	A2771821G	SMCHD1	NM_015295.3(SMCHD1):c.5052+203A>G	noncoding	Benign
18	2777721	A	G	A2777721G	SMCHD1	NM_015295.3(SMCHD1):c.5367-85A>G	noncoding	Benign
18	2777822	C	T	C2777822T	SMCHD1	NM_015295.3(SMCHD1):c.5383C>T:p.Arg1795Ter	coding	Pathogenic
18	2778384	C	T	C2778384T	SMCHD1	NM_015295.3(SMCHD1):c.5547+145C>T	noncoding	Benign
18	2778451	T	C	T2778451C	SMCHD1	NM_015295.3(SMCHD1):c.5547+212T>C	noncoding	Benign
18	2795658	C	T	C2795658T	SMCHD1	NM_015295.3(SMCHD1):c.5720-291C>T	noncoding	Benign
18	2795854	A	G	A2795854G	SMCHD1	NM_015295.3(SMCHD1):c.5720-95A>G	noncoding	Benign
18	2796119	C	G	C2796119G	SMCHD1	NM_015295.3(SMCHD1):c.5878+12C>G	noncoding	Benign/Likely_benign
18	2802304	T	C	T2802304C	SMCHD1	NM_015295.3(SMCHD1):c.5994-224T>C	noncoding	Benign
18	2920484	G	A	G2920484A	LPIN2	NM_001375808.2(LPIN2):c.2547-47C>T	noncoding	Benign
18	2920727	A	T	A2920727T	LPIN2	NM_001375808.2(LPIN2):c.2546+51T>A	noncoding	Benign
18	2920919	G	T	G2920919T	LPIN2	NM_001375808.2(LPIN2):c.2443-38C>A	noncoding	Benign
18	2921157	C	T	C2921157T	LPIN2	NM_001375808.2(LPIN2):c.2443-276G>A	noncoding	Benign
18	2921446	T	C	T2921446C	LPIN2	NM_001375808.2(LPIN2):c.2442+87A>G	noncoding	Benign
18	2921779	T	C	T2921779C	LPIN2	NM_001375808.2(LPIN2):c.2328-132A>G	noncoding	Benign
18	2921981	C	T	C2921981T	LPIN2	NM_001375808.2(LPIN2):c.2327+66G>A	noncoding	Benign
18	2923872	G	A	G2923872A	LPIN2	NM_001375808.2(LPIN2):c.2088-11C>T	noncoding	Benign
18	2925319	C	A	C2925319A	LPIN2	NM_001375808.2(LPIN2):c.1843G>T:p.Glu615Ter	coding	Pathogenic
18	2925508	T	C	T2925508C	LPIN2	NM_001375808.2(LPIN2):c.1794-140A>G	noncoding	Benign
18	2926794	G	A	G2926794A	LPIN2	NM_001375808.2(LPIN2):c.1722C>T:p.Ser574=	coding	Benign
18	2928383	T	C	T2928383C	LPIN2	NM_001375808.2(LPIN2):c.1620+208A>G	noncoding	Benign
18	2929065	C	T	C2929065T	LPIN2	NM_001375808.2(LPIN2):c.1550G>A:p.Arg517His	coding	Pathogenic
18	2934199	G	A	G2934199A	LPIN2	NM_001375808.2(LPIN2):c.1268+152C>T	noncoding	Benign
18	2934538	G	C	G2934538C	LPIN2	NM_001375808.2(LPIN2):c.1169-88C>G	noncoding	Benign
18	2937361	T	C	T2937361C	LPIN2	NM_001375808.2(LPIN2):c.1168+331A>G	noncoding	Benign
18	2937652	A	G	A2937652G	LPIN2	NM_001375808.2(LPIN2):c.1168+40T>C	noncoding	Benign
18	2937817	G	A	G2937817A	LPIN2	NM_001375808.2(LPIN2):c.1043C>T:p.Pro348Leu	coding	Benign/Likely_benign
18	2938022	G	A	G2938022A	LPIN2	NM_001375808.2(LPIN2):c.838C>T:p.Arg280Ter	coding	Pathogenic
18	2938149	G	A	G2938149A	LPIN2	NM_001375808.2(LPIN2):c.823-112C>T	noncoding	Benign
18	2939507	C	T	C2939507T	LPIN2	NM_001375808.2(LPIN2):c.795G>A:p.Thr265=	coding	Benign/Likely_benign
18	2940791	C	G	C2940791G	LPIN2	NM_001375808.2(LPIN2):c.591-79G>C	noncoding	Benign
18	2950928	A	G	A2950928G	LPIN2	NM_001375808.2(LPIN2):c.590+127T>C	noncoding	Benign
18	2951372	G	A	G2951372A	LPIN2	NM_001375808.2(LPIN2):c.289-16C>T	noncoding	Benign/Likely_benign
18	2960440	T	C	T2960440C	LPIN2	NM_001375808.2(LPIN2):c.192+209A>G	noncoding	Benign
18	3011565	T	C	T3011565C	LPIN2	NM_001375808.2(LPIN2):c.-10+1522A>G	noncoding	Benign
18	3011589	G	A	G3011589A	LPIN2	NM_001375808.2(LPIN2):c.-10+1498C>T	noncoding	Benign
18	3067063	A	C	A3067063C	MYOM1	NM_003803.4(MYOM1):c.*199T>G	noncoding	Benign
18	3067601	A	G	A3067601G	MYOM1	NM_003803.4(MYOM1):c.4765-46T>C	noncoding	Benign
18	3067735	G	C	G3067735C	MYOM1	NM_003803.4(MYOM1):c.4765-180C>G	noncoding	Benign
18	3067755	C	T	C3067755T	MYOM1	NM_003803.4(MYOM1):c.4765-200G>A	noncoding	Benign
18	3075211	T	C	T3075211C	MYOM1	NM_003803.4(MYOM1):c.4708+243A>G	noncoding	Benign
18	3075259	G	A	G3075259A	MYOM1	NM_003803.4(MYOM1):c.4708+195C>T	noncoding	Benign
18	3075314	C	G	C3075314G	MYOM1	NM_003803.4(MYOM1):c.4708+140G>C	noncoding	Benign
18	3075556	T	C	T3075556C	MYOM1	NM_003803.4(MYOM1):c.4686-80A>G	noncoding	Benign
18	3075708	T	C	T3075708C	MYOM1	NM_003803.4(MYOM1):c.4685+17A>G	noncoding	Benign
18	3075713	C	T	C3075713T	MYOM1	NM_003803.4(MYOM1):c.4685+12G>A	noncoding	Benign
18	3075767	A	G	A3075767G	MYOM1	NM_003803.4(MYOM1):c.4649-6T>C	noncoding	Benign
18	3075780	A	C	A3075780C	MYOM1	NM_003803.4(MYOM1):c.4649-19T>G	noncoding	Benign
18	3075874	C	G	C3075874G	MYOM1	NM_003803.4(MYOM1):c.4649-113G>C	noncoding	Benign
18	3076003	T	C	T3076003C	MYOM1	NM_003803.4(MYOM1):c.4649-242A>G	noncoding	Benign
18	3084154	C	T	C3084154T	MYOM1	NM_003803.4(MYOM1):c.4340-127G>A	noncoding	Benign
18	3084255	C	A	C3084255A	MYOM1	NM_003803.4(MYOM1):c.4340-228G>T	noncoding	Benign
18	3084771	T	C	T3084771C	MYOM1	NM_003803.4(MYOM1):c.4339+274A>G	noncoding	Benign
18	3084984	T	A	T3084984A	MYOM1	NM_003803.4(MYOM1):c.4339+61A>T	noncoding	Benign
18	3088905	T	C	T3088905C	MYOM1	NM_003803.4(MYOM1):c.4137+269A>G	noncoding	Benign
18	3089519	T	C	T3089519C	MYOM1	NM_003803.4(MYOM1):c.4069+18A>G	noncoding	Benign
18	3089613	A	G	A3089613G	MYOM1	NM_003803.4(MYOM1):c.4010-17T>C	noncoding	Benign
18	3090668	G	A	G3090668A	MYOM1	NM_003803.4(MYOM1):c.3999C>T:p.Leu1333=	coding	Benign
18	3094133	A	G	A3094133G	MYOM1	NM_003803.4(MYOM1):c.3864+37T>C	noncoding	Benign
18	3094318	A	C	A3094318C	MYOM1	NM_003803.4(MYOM1):c.3728-12T>G	noncoding	Benign
18	3099966	G	C	G3099966C	MYOM1	NM_003803.4(MYOM1):c.3727+193C>G	noncoding	Benign
18	3099990	G	T	G3099990T	MYOM1	NM_003803.4(MYOM1):c.3727+169C>A	noncoding	Benign
18	3100053	T	C	T3100053C	MYOM1	NM_003803.4(MYOM1):c.3727+106A>G	noncoding	Benign
18	3112051	A	C	A3112051C	MYOM1	NM_003803.4(MYOM1):c.3418+247T>G	noncoding	Benign
18	3112098	G	A	G3112098A	MYOM1	NM_003803.4(MYOM1):c.3418+200C>T	noncoding	Benign
18	3112098	G	T	G3112098T	MYOM1	NM_003803.4(MYOM1):c.3418+200C>A	noncoding	Benign
18	3112122	T	C	T3112122C	MYOM1	NM_003803.4(MYOM1):c.3418+176A>G	noncoding	Benign
18	3112233	G	C	G3112233C	MYOM1	NM_003803.4(MYOM1):c.3418+65C>G	noncoding	Benign
18	3112254	C	A	C3112254A	MYOM1	NM_003803.4(MYOM1):c.3418+44G>T	noncoding	Benign
18	3112570	C	A	C3112570A	MYOM1	NM_003803.4(MYOM1):c.3304-158G>T	noncoding	Benign
18	3112623	G	A	G3112623A	MYOM1	NM_003803.4(MYOM1):c.3304-211C>T	noncoding	Benign
18	3116684	G	A	G3116684A	MYOM1	NM_003803.4(MYOM1):c.3119-169C>T	noncoding	Benign
18	3120062	G	A	G3120062A	MYOM1	NM_003803.4(MYOM1):c.2992-67C>T	noncoding	Benign
18	3120179	T	C	T3120179C	MYOM1	NM_003803.4(MYOM1):c.2992-184A>G	noncoding	Benign
18	3126578	A	G	A3126578G	MYOM1	NM_003803.4(MYOM1):c.2991+123T>C	noncoding	Benign
18	3126634	C	T	C3126634T	MYOM1	NM_003803.4(MYOM1):c.2991+67G>A	noncoding	Benign
18	3126975	C	A	C3126975A	MYOM1	NM_003803.4(MYOM1):c.2795-78G>T	noncoding	Benign
18	3127037	G	T	G3127037T	MYOM1	NM_003803.4(MYOM1):c.2795-140C>A	noncoding	Benign
18	3129133	T	C	T3129133C	MYOM1	NM_003803.4(MYOM1):c.2794+99A>G	noncoding	Benign
18	3129537	C	T	C3129537T	MYOM1	NM_003803.4(MYOM1):c.2507-18G>A	noncoding	Benign
18	3131075	C	G	C3131075G	MYOM1	NM_003803.4(MYOM1):c.2506+300G>C	noncoding	Benign
18	3131509	C	T	C3131509T	MYOM1	NM_003803.4(MYOM1):c.2385-13G>A	noncoding	Benign/Likely_benign
18	3134557	T	A	T3134557A	MYOM1	NM_003803.4(MYOM1):c.2384+93A>T	noncoding	Benign
18	3134612	A	G	A3134612G	MYOM1	NM_003803.4(MYOM1):c.2384+38T>C	noncoding	Benign
18	3135916	T	C	T3135916C	MYOM1	NM_003803.4(MYOM1):c.2026-186A>G	noncoding	Benign
18	3141621	C	T	C3141621T	MYOM1	NM_003803.4(MYOM1):c.2025+318G>A	noncoding	Benign
18	3141691	G	A	G3141691A	MYOM1	NM_003803.4(MYOM1):c.2025+248C>T	noncoding	Benign
18	3141922	T	C	T3141922C	MYOM1	NM_003803.4(MYOM1):c.2025+17A>G	noncoding	Benign
18	3142077	A	G	A3142077G	MYOM1	NM_003803.4(MYOM1):c.1901-14T>C	noncoding	Benign/Likely_benign
18	3151538	G	A	G3151538A	MYOM1	NM_003803.4(MYOM1):c.1843+156C>T	noncoding	Benign
18	3154677	T	A	T3154677A	MYOM1	NM_003803.4(MYOM1):c.1643+270A>T	noncoding	Benign
18	3164661	G	A	G3164661A	MYOM1	NM_003803.4(MYOM1):c.1340-222C>T	noncoding	Benign
18	3164672	C	T	C3164672T	MYOM1	NM_003803.4(MYOM1):c.1340-233G>A	noncoding	Benign
18	3168531	T	C	T3168531C	MYOM1	NM_003803.4(MYOM1):c.1339+286A>G	noncoding	Benign
18	3168618	A	G	A3168618G	MYOM1	NM_003803.4(MYOM1):c.1339+199T>C	noncoding	Benign
18	3168639	A	G	A3168639G	MYOM1	NM_003803.4(MYOM1):c.1339+178T>C	noncoding	Benign
18	3168743	C	T	C3168743T	MYOM1	NM_003803.4(MYOM1):c.1339+74G>A	noncoding	Benign
18	3169125	G	A	G3169125A	MYOM1	NM_003803.4(MYOM1):c.1175-144C>T	noncoding	Benign
18	3169128	C	T	C3169128T	MYOM1	NM_003803.4(MYOM1):c.1175-147G>A	noncoding	Benign
18	3173717	G	A	G3173717A	MYOM1	NM_003803.4(MYOM1):c.1174+221C>T	noncoding	Benign
18	3173746	C	T	C3173746T	MYOM1	NM_003803.4(MYOM1):c.1174+192G>A	noncoding	Benign
18	3173818	C	T	C3173818T	MYOM1	NM_003803.4(MYOM1):c.1174+120G>A	noncoding	Benign
18	3173875	G	A	G3173875A	MYOM1	NM_003803.4(MYOM1):c.1174+63C>T	noncoding	Benign
18	3174020	C	T	C3174020T	MYOM1	NM_003803.4(MYOM1):c.1112-20G>A	noncoding	Benign
18	3174058	C	A	C3174058A	MYOM1	NM_003803.4(MYOM1):c.1112-58G>T	noncoding	Benign
18	3174066	G	T	G3174066T	MYOM1	NM_003803.4(MYOM1):c.1111+54C>A	noncoding	Benign
18	3174222	C	T	C3174222T	MYOM1	NM_003803.4(MYOM1):c.1023-14G>A	noncoding	Benign/Likely_benign
18	3175842	T	C	T3175842C	MYOM1	NM_003803.4(MYOM1):c.1022+200A>G	noncoding	Benign
18	3176019	C	T	C3176019T	MYOM1	NM_003803.4(MYOM1):c.1022+23G>A	noncoding	Benign
18	3176379	G	A	G3176379A	MYOM1	NM_003803.4(MYOM1):c.930-245C>T	noncoding	Benign
18	3187425	A	G	A3187425G	MYOM1	NM_003803.4(MYOM1):c.929+55T>C	noncoding	Benign
18	3187862	T	C	T3187862C	MYOM1	NM_003803.4(MYOM1):c.772-225A>G	noncoding	Benign
18	3188717	T	C	T3188717C	MYOM1	NM_003803.4(MYOM1):c.771+31A>G	noncoding	Benign
18	3189171	T	C	T3189171C	MYOM1	NM_003803.4(MYOM1):c.432-84A>G	noncoding	Benign
18	3189172	C	A	C3189172A	MYOM1	NM_003803.4(MYOM1):c.432-85G>T	noncoding	Benign
18	3189340	T	A	T3189340A	MYOM1	NM_003803.4(MYOM1):c.432-253A>T	noncoding	Benign
18	3193682	T	C	T3193682C	MYOM1	NM_003803.4(MYOM1):c.431+136A>G	noncoding	Benign
18	3214670	G	A	G3214670A	MYOM1	NM_003803.4(MYOM1):c.290+264C>T	noncoding	Benign
18	3214916	G	A	G3214916A	MYOM1	NM_003803.4(MYOM1):c.290+18C>T	noncoding	Benign
18	3448075	G	C	G3448075C	TGIF1	NM_173207.4(TGIF1):c.58+278G>C	noncoding	Benign
18	3450206	A	T	A3450206T	TGIF1	NM_003244.4(TGIF1):c.-284A>T	coding	Benign
18	3452264	C	T	C3452264T	TGIF1	NM_003244.4(TGIF1):c.16+1759C>T	coding	Benign
18	3452566	T	C	T3452566C	TGIF1	NM_003244.4(TGIF1):c.16+2061T>C	noncoding	Benign
18	3456089	A	T	A3456089T	TGIF1	NM_003244.4(TGIF1):c.17-265A>T	noncoding	Benign
18	3457096	G	T	G3457096T	TGIF1	NM_003244.4(TGIF1):c.244-269G>T	noncoding	Benign
18	3457498	T	C	T3457498C	TGIF1	NM_003244.4(TGIF1):c.377T>C:p.Val126Ala	coding	Benign
18	3457572	A	G	A3457572G	TGIF1	NM_003244.4(TGIF1):c.451A>G:p.Thr151Ala	coding	Benign/Likely_benign
18	3581968	G	A	G3581968A	DLGAP1	NM_004746.4(DLGAP1):c.1872C>T:p.Thr624=	coding	Benign
18	6943265	G	A	G6943265A	LAMA1	NM_005559.4(LAMA1):c.8982C>T:p.Asp2994=	coding	Benign
18	6947144	A	C	A6947144C	LAMA1	NM_005559.4(LAMA1):c.8844+19T>G	noncoding	Benign
18	6947246	G	A	G6947246A	LAMA1	NM_005559.4(LAMA1):c.8761C>T:p.Arg2921Ter	coding	Pathogenic
18	6948482	C	T	C6948482T	LAMA1	NM_005559.4(LAMA1):c.8631G>A:p.Val2877=	coding	Benign
18	6948573	G	A	G6948573A	LAMA1	NM_005559.4(LAMA1):c.8557-17C>T	noncoding	Benign
18	6949272	G	A	G6949272A	LAMA1	NM_005559.4(LAMA1):c.8398-13C>T	noncoding	Benign
18	6958566	G	A	G6958566A	LAMA1	NM_005559.4(LAMA1):c.7875C>T:p.Val2625=	coding	Benign
18	6959329	G	A	G6959329A	LAMA1	NM_005559.4(LAMA1):c.7778+12C>T	noncoding	Benign
18	6959330	C	T	C6959330T	LAMA1	NM_005559.4(LAMA1):c.7778+11G>A	noncoding	Benign
18	6961778	G	A	G6961778A	LAMA1	NM_005559.4(LAMA1):c.7453-19C>T	noncoding	Benign
18	6965303	G	A	G6965303A	LAMA1	NM_005559.4(LAMA1):c.7180C>T:p.Arg2394Ter	coding	Pathogenic/Likely_pathogenic
18	6966131	G	A	G6966131A	LAMA1	NM_005559.4(LAMA1):c.7050+16C>T	noncoding	Benign
18	6966297	G	A	G6966297A	LAMA1	NM_005559.4(LAMA1):c.6900C>T:p.Ser2300=	coding	Benign
18	6966308	G	C	G6966308C	LAMA1	NM_005559.4(LAMA1):c.6900-11C>G	noncoding	Benign
18	6971937	C	T	C6971937T	LAMA1	NM_005559.4(LAMA1):c.6819G>A:p.Gly2273=	coding	Benign
18	6971955	A	G	A6971955G	LAMA1	NM_005559.4(LAMA1):c.6801T>C:p.His2267=	coding	Benign
18	6975009	G	A	G6975009A	LAMA1	NM_005559.4(LAMA1):c.6517C>T:p.Arg2173Ter	coding	Pathogenic
18	6975936	C	G	C6975936G	LAMA1	NM_005559.4(LAMA1):c.6489+1G>C	noncoding	Pathogenic
18	6975996	G	C	G6975996C	LAMA1	NM_005559.4(LAMA1):c.6430C>G:p.Leu2144Val	coding	Benign
18	6976092	A	G	A6976092G	LAMA1	NM_005559.4(LAMA1):c.6346-12T>C	noncoding	Benign
18	6977720	A	G	A6977720G	LAMA1	NM_005559.4(LAMA1):c.6345+7T>C	noncoding	Benign
18	6977845	A	G	A6977845G	LAMA1	NM_005559.4(LAMA1):c.6227T>C:p.Ile2076Thr	coding	Benign
18	6978346	G	A	G6978346A	LAMA1	NM_005559.4(LAMA1):c.6040C>T:p.Leu2014=	coding	Benign
18	6980524	T	C	T6980524C	LAMA1	NM_005559.4(LAMA1):c.6004A>G:p.Lys2002Glu	coding	Benign
18	6980545	A	G	A6980545G	LAMA1	NM_005559.4(LAMA1):c.5983T>C:p.Leu1995=	coding	Benign
18	6982555	G	A	G6982555A	LAMA1	NM_005559.4(LAMA1):c.5832C>T:p.Ala1944=	coding	Benign
18	6983195	G	T	G6983195T	LAMA1	NM_005559.4(LAMA1):c.5700C>A:p.Thr1900=	coding	Benign
18	6983236	T	C	T6983236C	LAMA1	NM_005559.4(LAMA1):c.5661-2A>G	noncoding	Pathogenic
18	6985271	C	T	C6985271T	LAMA1	NM_005559.4(LAMA1):c.5626G>A:p.Ala1876Thr	coding	Benign
18	6985507	T	C	T6985507C	LAMA1	NM_005559.4(LAMA1):c.5496+20A>G	noncoding	Benign
18	6985508	G	A	G6985508A	LAMA1	NM_005559.4(LAMA1):c.5496+19C>T	noncoding	Benign
18	6985632	C	T	C6985632T	LAMA1	NM_005559.4(LAMA1):c.5391G>A:p.Leu1797=	coding	Benign
18	6985656	C	T	C6985656T	LAMA1	NM_005559.4(LAMA1):c.5380-13G>A	noncoding	Benign
18	6986228	G	A	G6986228A	LAMA1	NM_005559.4(LAMA1):c.5288C>T:p.Ala1763Val	coding	Benign
18	6986260	G	A	G6986260A	LAMA1	NM_005559.4(LAMA1):c.5256C>T:p.His1752=	coding	Benign
18	6992684	T	A	T6992684A	LAMA1	NM_005559.4(LAMA1):c.5045A>T:p.Asp1682Val	coding	Benign
18	6993674	T	C	T6993674C	LAMA1	NM_005559.4(LAMA1):c.4975A>G:p.Ile1659Val	coding	Benign
18	6995448	T	C	T6995448C	LAMA1	NM_005559.4(LAMA1):c.4807-2A>G	noncoding	Pathogenic
18	6997856	C	T	C6997856T	LAMA1	NM_005559.4(LAMA1):c.4692G>A:p.Leu1564=	coding	Benign
18	6999629	T	C	T6999629C	LAMA1	NM_005559.4(LAMA1):c.4479A>G:p.Ser1493=	coding	Benign
18	6999964	G	A	G6999964A	LAMA1	NM_005559.4(LAMA1):c.4416C>T:p.His1472=	coding	Benign
18	7008584	A	C	A7008584C	LAMA1	NM_005559.4(LAMA1):c.4026T>G:p.Val1342=	coding	Benign
18	7008592	T	C	T7008592C	LAMA1	NM_005559.4(LAMA1):c.4018A>G:p.Met1340Val	coding	Benign
18	7009321	G	A	G7009321A	LAMA1	NM_005559.4(LAMA1):c.3919C>T:p.Arg1307Ter	coding	Pathogenic
18	7011339	C	T	C7011339T	LAMA1	NM_005559.4(LAMA1):c.3648G>A:p.Pro1216=	coding	Benign
18	7011414	G	A	G7011414A	LAMA1	NM_005559.4(LAMA1):c.3573C>T:p.Thr1191=	coding	Benign
18	7011491	A	G	A7011491G	LAMA1	NM_005559.4(LAMA1):c.3508-12T>C	noncoding	Benign
18	7012124	A	G	A7012124G	LAMA1	NM_005559.4(LAMA1):c.3378T>C:p.Gly1126=	coding	Benign
18	7015715	T	C	T7015715C	LAMA1	NM_005559.4(LAMA1):c.3126+7A>G	noncoding	Benign
18	7015749	C	T	C7015749T	LAMA1	NM_005559.4(LAMA1):c.3099G>A:p.Trp1033Ter	coding	Pathogenic
18	7017302	A	G	A7017302G	LAMA1	NM_005559.4(LAMA1):c.2784T>C:p.Thr928=	coding	Benign
18	7017323	A	G	A7017323G	LAMA1	NM_005559.4(LAMA1):c.2763T>C:p.Cys921=	coding	Benign
18	7023149	C	T	C7023149T	LAMA1	NM_005559.4(LAMA1):c.2701+15G>A	noncoding	Benign
18	7023372	A	G	A7023372G	LAMA1	NM_005559.4(LAMA1):c.2493T>C:p.Cys831=	coding	Benign
18	7023391	A	G	A7023391G	LAMA1	NM_005559.4(LAMA1):c.2490-16T>C	noncoding	Benign
18	7024389	C	T	C7024389T	LAMA1	NM_005559.4(LAMA1):c.2480G>A:p.Trp827Ter	coding	Pathogenic
18	7033038	G	A	G7033038A	LAMA1	NM_005559.4(LAMA1):c.2109C>T:p.Ala703=	coding	Benign
18	7033113	G	T	G7033113T	LAMA1	NM_005559.4(LAMA1):c.2052-18C>A	noncoding	Benign
18	7034465	T	A	T7034465A	LAMA1	NM_005559.4(LAMA1):c.2051+14A>T	noncoding	Benign
18	7034558	G	A	G7034558A	LAMA1	NM_005559.4(LAMA1):c.1972C>T:p.Gln658Ter	coding	Pathogenic
18	7035974	C	T	C7035974T	LAMA1	NM_005559.4(LAMA1):c.1839+13G>A	noncoding	Benign
18	7036042	A	G	A7036042G	LAMA1	NM_005559.4(LAMA1):c.1784T>C:p.Ile595Thr	coding	Benign
18	7036103	C	T	C7036103T	LAMA1	NM_005559.4(LAMA1):c.1738-15G>A	noncoding	Benign
18	7037642	G	A	G7037642A	LAMA1	NM_005559.4(LAMA1):c.1673C>T:p.Ala558Val	coding	Benign/Likely_benign
18	7038801	G	A	G7038801A	LAMA1	NM_005559.4(LAMA1):c.1563+9C>T	noncoding	Benign
18	7040217	G	T	G7040217T	LAMA1	NM_005559.4(LAMA1):c.1281C>A:p.Cys427Ter	coding	Pathogenic
18	7043336	A	G	A7043336G	LAMA1	NM_005559.4(LAMA1):c.1046T>C:p.Leu349Ser	coding	Benign
18	7043424	C	T	C7043424T	LAMA1	NM_005559.4(LAMA1):c.977-19G>A	noncoding	Benign
18	7046277	C	A	C7046277A	LAMA1	NM_005559.4(LAMA1):c.858+1G>T	noncoding	Pathogenic/Likely_pathogenic
18	7046294	C	T	C7046294T	LAMA1	NM_005559.4(LAMA1):c.842G>A:p.Trp281Ter	coding	Pathogenic
18	7049065	G	A	G7049065A	LAMA1	NM_005559.4(LAMA1):c.768+13C>T	noncoding	Benign
18	7050817	G	A	G7050817A	LAMA1	NM_005559.4(LAMA1):c.465C>T:p.Ser155=	coding	Benign
18	7080335	G	A	G7080335A	LAMA1	NM_005559.4(LAMA1):c.184C>T:p.Arg62Ter	coding	Pathogenic/Likely_pathogenic
18	8826085	G	C	G8826085C	MTCL1	NM_001395333.1(MTCL1):c.5655G>C:p.Thr1885=	coding	Benign
18	9102331	C	A	C9102331A	NDUFV2	Single_allele	noncoding	Benign
18	9102511	T	C	T9102511C	NDUFV2	Single_allele	noncoding	Benign
18	9102564	G	A	G9102564A	NDUFV2	Single_allele	noncoding	Benign
18	9134356	C	G	C9134356G	NDUFV2	NM_021074.4(NDUFV2):c.*77C>G	noncoding	Benign/Likely_benign
18	9134359	C	T	C9134359T	NDUFV2	Single_allele	noncoding	Benign
18	9134440	C	G	C9134440G	NDUFV2	Single_allele	noncoding	Benign
18	9743053	T	G	T9743053G	RAB31	NM_006868.4(RAB31):c.40-32225T>G	noncoding	Benign
18	9886893	A	G	A9886893G	TXNDC2	NM_032243.6(TXNDC2):c.213A>G:p.Ser71=	coding	Benign
18	10454282	C	A	C10454282A	APCDD1	Single_allele	noncoding	Benign
18	10454963	C	G	C10454963G	APCDD1	NM_153000.5(APCDD1):c.-19C>G	noncoding	Benign
18	10455080	A	G	A10455080G	APCDD1	NM_153000.5(APCDD1):c.58+41A>G	noncoding	Benign
18	10455136	C	T	C10455136T	APCDD1	NM_153000.5(APCDD1):c.58+97C>T	noncoding	Benign
18	10468318	A	G	A10468318G	APCDD1	NM_153000.5(APCDD1):c.59-151A>G	noncoding	Benign
18	10468330	A	G	A10468330G	APCDD1	NM_153000.5(APCDD1):c.59-139A>G	noncoding	Benign
18	10468456	C	T	C10468456T	APCDD1	NM_153000.5(APCDD1):c.59-13C>T	noncoding	Benign
18	10471287	A	C	A10471287C	APCDD1	NM_153000.5(APCDD1):c.243-243A>C	noncoding	Benign
18	10471735	G	A	G10471735A	APCDD1	NM_153000.5(APCDD1):c.448G>A:p.Val150Ile	coding	Benign
18	10471767	C	T	C10471767T	APCDD1	NM_153000.5(APCDD1):c.480C>T:p.Ala160=	coding	Benign
18	10471776	C	G	C10471776G	APCDD1	NM_153000.5(APCDD1):c.489C>G:p.Leu163=	coding	Benign
18	10485253	A	G	A10485253G	APCDD1	NM_153000.5(APCDD1):c.775-209A>G	noncoding	Benign
18	10485360	T	C	T10485360C	APCDD1	NM_153000.5(APCDD1):c.775-102T>C	noncoding	Benign
18	10485366	T	C	T10485366C	APCDD1	NM_153000.5(APCDD1):c.775-96T>C	noncoding	Benign
18	10485372	G	A	G10485372A	APCDD1	NM_153000.5(APCDD1):c.775-90G>A	noncoding	Benign
18	10485859	G	A	G10485859A	APCDD1	NM_153000.5(APCDD1):c.1096+76G>A	noncoding	Benign
18	10487356	A	G	A10487356G	APCDD1	NM_153000.5(APCDD1):c.1097-234A>G	noncoding	Benign
18	10487446	T	C	T10487446C	APCDD1	NM_153000.5(APCDD1):c.1097-144T>C	noncoding	Benign
18	10487921	C	T	C10487921T	APCDD1	NM_153000.5(APCDD1):c.1428C>T:p.Leu476=	coding	Benign
18	10488002	C	T	C10488002T	APCDD1	NM_153000.5(APCDD1):c.1509C>T:p.Cys503=	coding	Benign
18	10488067	C	T	C10488067T	APCDD1	NM_153000.5(APCDD1):c.*29C>T	noncoding	Benign
18	10488094	G	T	G10488094T	APCDD1	NM_153000.5(APCDD1):c.*56G>T	noncoding	Benign
18	10672043	A	G	A10672043G	PIEZO2	NM_001378183.1(PIEZO2):c.8346-264T>C	noncoding	Benign
18	10672785	T	A	T10672785A	PIEZO2	NM_001378183.1(PIEZO2):c.8250A>T:p.Gly2750=	coding	Benign/Likely_benign
18	10672854	A	G	A10672854G	PIEZO2	NM_001378183.1(PIEZO2):c.8181T>C:p.Ile2727=	coding	Benign/Likely_benign
18	10672978	G	A	G10672978A	PIEZO2	NM_001378183.1(PIEZO2):c.8162-105C>T	noncoding	Benign
18	10675261	A	T	A10675261T	PIEZO2	NM_001378183.1(PIEZO2):c.8109T>A:p.Tyr2703Ter	coding	Pathogenic
18	10675405	A	G	A10675405G	PIEZO2	NM_001378183.1(PIEZO2):c.8082-117T>C	noncoding	Benign
18	10675435	C	T	C10675435T	PIEZO2	NM_001378183.1(PIEZO2):c.8082-147G>A	noncoding	Benign
18	10677805	G	A	G10677805A	PIEZO2	NM_001378183.1(PIEZO2):c.8023C>T:p.Arg2675Ter	coding	Pathogenic
18	10677982	T	C	T10677982C	PIEZO2	NM_001378183.1(PIEZO2):c.7953-107A>G	noncoding	Benign
18	10677995	G	T	G10677995T	PIEZO2	NM_001378183.1(PIEZO2):c.7953-120C>A	noncoding	Benign
18	10679910	G	A	G10679910A	PIEZO2	NM_001378183.1(PIEZO2):c.7952+289C>T	noncoding	Benign
18	10680020	T	C	T10680020C	PIEZO2	NM_001378183.1(PIEZO2):c.7952+179A>G	noncoding	Benign
18	10680027	C	A	C10680027A	PIEZO2	NM_001378183.1(PIEZO2):c.7952+172G>T	noncoding	Benign
18	10680107	C	T	C10680107T	PIEZO2	NM_001378183.1(PIEZO2):c.7952+92G>A	noncoding	Benign
18	10680135	C	T	C10680135T	PIEZO2	NM_001378183.1(PIEZO2):c.7952+64G>A	noncoding	Benign
18	10680145	T	A	T10680145A	PIEZO2	NM_001378183.1(PIEZO2):c.7952+54A>T	noncoding	Benign
18	10680166	G	A	G10680166A	PIEZO2	NM_001378183.1(PIEZO2):c.7952+33C>T	noncoding	Benign
18	10680344	C	A	C10680344A	PIEZO2	NM_001378183.1(PIEZO2):c.7807G>T:p.Glu2603Ter	coding	Pathogenic
18	10680645	G	C	G10680645C	PIEZO2	NM_001378183.1(PIEZO2):c.7780-274C>G	noncoding	Benign
18	10681450	A	C	A10681450C	PIEZO2	NM_001378183.1(PIEZO2):c.7779+211T>G	noncoding	Benign
18	10681932	A	G	A10681932G	PIEZO2	NM_001378183.1(PIEZO2):c.7686+172T>C	noncoding	Benign
18	10682489	T	C	T10682489C	PIEZO2	NM_001378183.1(PIEZO2):c.7498-197A>G	noncoding	Benign
18	10689481	C	T	C10689481T	PIEZO2	NM_001378183.1(PIEZO2):c.7497+174G>A	noncoding	Benign
18	10689982	C	A	C10689982A	PIEZO2	NM_001378183.1(PIEZO2):c.7350-180G>T	noncoding	Benign
18	10691111	C	T	C10691111T	PIEZO2	NM_001378183.1(PIEZO2):c.7349+114G>A	noncoding	Benign
18	10691194	T	G	T10691194G	PIEZO2	NM_001378183.1(PIEZO2):c.7349+31A>C	noncoding	Benign
18	10695822	G	A	G10695822A	PIEZO2	NM_001378183.1(PIEZO2):c.7190+252C>T	noncoding	Benign
18	10696041	C	A	C10696041A	PIEZO2	NM_001378183.1(PIEZO2):c.7190+33G>T	noncoding	Benign
18	10696045	T	C	T10696045C	PIEZO2	NM_001378183.1(PIEZO2):c.7190+29A>G	noncoding	Benign
18	10696335	C	G	C10696335G	PIEZO2	NM_001378183.1(PIEZO2):c.6976-47G>C	noncoding	Benign
18	10696339	A	G	A10696339G	PIEZO2	NM_001378183.1(PIEZO2):c.6976-51T>C	noncoding	Benign
18	10696536	C	T	C10696536T	PIEZO2	NM_001378183.1(PIEZO2):c.6831G>A:p.Thr2277=	coding	Benign
18	10696631	T	C	T10696631C	PIEZO2	NM_001378183.1(PIEZO2):c.6828-92A>G	noncoding	Benign
18	10696639	T	C	T10696639C	PIEZO2	NM_001378183.1(PIEZO2):c.6828-100A>G	noncoding	Benign
18	10696801	T	C	T10696801C	PIEZO2	NM_001378183.1(PIEZO2):c.6828-262A>G	noncoding	Benign
18	10697629	C	T	C10697629T	PIEZO2	NM_001378183.1(PIEZO2):c.6827+119G>A	noncoding	Benign
18	10697659	C	T	C10697659T	PIEZO2	NM_001378183.1(PIEZO2):c.6827+89G>A	noncoding	Benign
18	10697667	C	T	C10697667T	PIEZO2	NM_001378183.1(PIEZO2):c.6827+81G>A	noncoding	Benign
18	10697710	C	A	C10697710A	PIEZO2	NM_001378183.1(PIEZO2):c.6827+38G>T	noncoding	Benign
18	10697915	G	A	G10697915A	PIEZO2	NM_001378183.1(PIEZO2):c.6695-35C>T	noncoding	Benign
18	10698626	C	A	C10698626A	PIEZO2	NM_001378183.1(PIEZO2):c.6694+299G>T	noncoding	Benign
18	10698650	G	A	G10698650A	PIEZO2	NM_001378183.1(PIEZO2):c.6694+275C>T	noncoding	Benign
18	10701689	A	G	A10701689G	PIEZO2	NM_001378183.1(PIEZO2):c.6441+300T>C	noncoding	Benign
18	10701701	C	T	C10701701T	PIEZO2	NM_001378183.1(PIEZO2):c.6441+288G>A	noncoding	Benign
18	10701739	C	T	C10701739T	PIEZO2	NM_001378183.1(PIEZO2):c.6441+250G>A	noncoding	Benign
18	10701800	A	C	A10701800C	PIEZO2	NM_001378183.1(PIEZO2):c.6441+189T>G	noncoding	Benign
18	10701812	T	G	T10701812G	PIEZO2	NM_001378183.1(PIEZO2):c.6441+177A>C	noncoding	Benign
18	10701846	A	T	A10701846T	PIEZO2	NM_001378183.1(PIEZO2):c.6441+143T>A	noncoding	Benign
18	10701864	G	C	G10701864C	PIEZO2	NM_001378183.1(PIEZO2):c.6441+125C>G	noncoding	Benign
18	10701900	C	T	C10701900T	PIEZO2	NM_001378183.1(PIEZO2):c.6441+89G>A	noncoding	Benign
18	10702305	T	C	T10702305C	PIEZO2	NM_001378183.1(PIEZO2):c.6259-134A>G	noncoding	Benign
18	10702333	C	T	C10702333T	PIEZO2	NM_001378183.1(PIEZO2):c.6259-162G>A	noncoding	Benign
18	10702371	C	T	C10702371T	PIEZO2	NM_001378183.1(PIEZO2):c.6259-200G>A	noncoding	Benign
18	10702395	T	C	T10702395C	PIEZO2	NM_001378183.1(PIEZO2):c.6259-224A>G	noncoding	Benign
18	10702466	A	G	A10702466G	PIEZO2	NM_001378183.1(PIEZO2):c.6259-295T>C	noncoding	Benign
18	10704224	T	A	T10704224A	PIEZO2	NM_001378183.1(PIEZO2):c.6258+170A>T	noncoding	Benign
18	10705937	A	G	A10705937G	PIEZO2	NM_001378183.1(PIEZO2):c.5589-191T>C	noncoding	Benign
18	10714467	T	G	T10714467G	PIEZO2	NM_001378183.1(PIEZO2):c.5423+297A>C	noncoding	Benign
18	10714566	T	C	T10714566C	PIEZO2	NM_001378183.1(PIEZO2):c.5423+198A>G	noncoding	Benign
18	10714681	T	A	T10714681A	PIEZO2	NM_001378183.1(PIEZO2):c.5423+83A>T	noncoding	Benign
18	10714737	T	G	T10714737G	PIEZO2	NM_001378183.1(PIEZO2):c.5423+27A>C	noncoding	Benign
18	10715102	A	G	A10715102G	PIEZO2	NM_001378183.1(PIEZO2):c.5257-172T>C	noncoding	Benign
18	10715135	T	C	T10715135C	PIEZO2	NM_001378183.1(PIEZO2):c.5257-205A>G	noncoding	Benign
18	10715144	A	G	A10715144G	PIEZO2	NM_001378183.1(PIEZO2):c.5257-214T>C	noncoding	Benign
18	10715166	C	T	C10715166T	PIEZO2	NM_001378183.1(PIEZO2):c.5257-236G>A	noncoding	Benign
18	10715175	T	A	T10715175A	PIEZO2	NM_001378183.1(PIEZO2):c.5257-245A>T	noncoding	Benign
18	10715191	A	T	A10715191T	PIEZO2	NM_001378183.1(PIEZO2):c.5257-261T>A	noncoding	Benign
18	10715229	G	A	G10715229A	PIEZO2	NM_001378183.1(PIEZO2):c.5257-299C>T	noncoding	Benign
18	10715679	G	A	G10715679A	PIEZO2	NM_001378183.1(PIEZO2):c.5227C>T:p.Arg1743Ter	coding	Pathogenic/Likely_pathogenic
18	10715853	A	G	A10715853G	PIEZO2	NM_001378183.1(PIEZO2):c.5090-37T>C	noncoding	Benign
18	10716032	G	T	G10716032T	PIEZO2	NM_001378183.1(PIEZO2):c.5090-216C>A	noncoding	Benign
18	10718274	C	A	C10718274A	PIEZO2	NM_001378183.1(PIEZO2):c.5030-15G>T	noncoding	Benign/Likely_benign
18	10718385	T	C	T10718385C	PIEZO2	NM_001378183.1(PIEZO2):c.5030-126A>G	noncoding	Benign
18	10718402	A	C	A10718402C	PIEZO2	NM_001378183.1(PIEZO2):c.5030-143T>G	noncoding	Benign
18	10718432	T	C	T10718432C	PIEZO2	NM_001378183.1(PIEZO2):c.5030-173A>G	noncoding	Benign
18	10718501	C	G	C10718501G	PIEZO2	NM_001378183.1(PIEZO2):c.5030-242G>C	noncoding	Benign
18	10718515	T	G	T10718515G	PIEZO2	NM_001378183.1(PIEZO2):c.5030-256A>C	noncoding	Benign
18	10718517	C	T	C10718517T	PIEZO2	NM_001378183.1(PIEZO2):c.5030-258G>A	noncoding	Benign
18	10731116	A	T	A10731116T	PIEZO2	NM_001378183.1(PIEZO2):c.5029+291T>A	noncoding	Benign
18	10736390	G	C	G10736390C	PIEZO2	NM_001378183.1(PIEZO2):c.4815+214C>G	noncoding	Benign
18	10736517	T	G	T10736517G	PIEZO2	NM_001378183.1(PIEZO2):c.4815+87A>C	noncoding	Benign
18	10736753	A	G	A10736753G	PIEZO2	NM_001378183.1(PIEZO2):c.4709-43T>C	noncoding	Benign
18	10736852	A	G	A10736852G	PIEZO2	NM_001378183.1(PIEZO2):c.4709-142T>C	noncoding	Benign
18	10736887	C	T	C10736887T	PIEZO2	NM_001378183.1(PIEZO2):c.4709-177G>A	noncoding	Benign
18	10736936	G	A	G10736936A	PIEZO2	NM_001378183.1(PIEZO2):c.4709-226C>T	noncoding	Benign
18	10740772	C	T	C10740772T	PIEZO2	NM_001378183.1(PIEZO2):c.4708+259G>A	noncoding	Benign
18	10740809	C	A	C10740809A	PIEZO2	NM_001378183.1(PIEZO2):c.4708+222G>T	noncoding	Benign
18	10741244	T	G	T10741244G	PIEZO2	NM_001378183.1(PIEZO2):c.4637-142A>C	noncoding	Benign
18	10742268	A	G	A10742268G	PIEZO2	NM_001378183.1(PIEZO2):c.4636+226T>C	noncoding	Benign
18	10742291	G	T	G10742291T	PIEZO2	NM_001378183.1(PIEZO2):c.4636+203C>A	noncoding	Benign
18	10742803	T	C	T10742803C	PIEZO2	NM_001378183.1(PIEZO2):c.4515-188A>G	noncoding	Benign
18	10742805	T	C	T10742805C	PIEZO2	NM_001378183.1(PIEZO2):c.4515-190A>G	noncoding	Benign
18	10743988	C	T	C10743988T	PIEZO2	NM_001378183.1(PIEZO2):c.4514+154G>A	noncoding	Benign
18	10744110	G	A	G10744110A	PIEZO2	NM_001378183.1(PIEZO2):c.4514+32C>T	noncoding	Benign
18	10744146	G	A	G10744146A	PIEZO2	NM_001378183.1(PIEZO2):c.4510C>T:p.Arg1504Ter	coding	Pathogenic
18	10744275	T	C	T10744275C	PIEZO2	NM_001378183.1(PIEZO2):c.4425-44A>G	noncoding	Benign
18	10748602	G	T	G10748602T	PIEZO2	NM_001378183.1(PIEZO2):c.4293C>A:p.Pro1431=	coding	Benign
18	10748895	G	A	G10748895A	PIEZO2	NM_001378183.1(PIEZO2):c.4265-265C>T	noncoding	Benign
18	10750152	G	C	G10750152C	PIEZO2	NM_001378183.1(PIEZO2):c.4203C>G:p.His1401Gln	coding	Benign/Likely_benign
18	10757870	A	G	A10757870G	PIEZO2	NM_001378183.1(PIEZO2):c.3923+99T>C	noncoding	Benign
18	10757890	G	A	G10757890A	PIEZO2	NM_001378183.1(PIEZO2):c.3923+79C>T	noncoding	Benign
18	10758286	T	C	T10758286C	PIEZO2	NM_001378183.1(PIEZO2):c.3758-152A>G	noncoding	Benign
18	10758386	C	T	C10758386T	PIEZO2	NM_001378183.1(PIEZO2):c.3758-252G>A	noncoding	Benign
18	10759532	C	T	C10759532T	PIEZO2	NM_001378183.1(PIEZO2):c.3707G>A:p.Trp1236Ter	coding	Pathogenic
18	10759603	G	A	G10759603A	PIEZO2	NM_001378183.1(PIEZO2):c.3656-20C>T	coding	Benign/Likely_benign
18	10759775	G	T	G10759775T	PIEZO2	NM_001378183.1(PIEZO2):c.3585C>A:p.Cys1195Ter	coding	Pathogenic
18	10759921	T	G	T10759921G	PIEZO2	NM_001378183.1(PIEZO2):c.3451-12A>C	noncoding	Benign/Likely_benign
18	10759937	A	G	A10759937G	PIEZO2	NM_001378183.1(PIEZO2):c.3451-28T>C	noncoding	Benign
18	10759963	G	A	G10759963A	PIEZO2	NM_001378183.1(PIEZO2):c.3451-54C>T	noncoding	Benign
18	10760193	T	A	T10760193A	PIEZO2	NM_001378183.1(PIEZO2):c.3451-284A>T	noncoding	Benign
18	10760646	C	A	C10760646A	PIEZO2	NM_001378183.1(PIEZO2):c.3450+265G>T	noncoding	Benign
18	10761385	C	T	C10761385T	PIEZO2	NM_001378183.1(PIEZO2):c.3250-274G>A	noncoding	Benign
18	10762277	T	C	T10762277C	PIEZO2	NM_001378183.1(PIEZO2):c.3249+223A>G	noncoding	Benign
18	10762420	G	A	G10762420A	PIEZO2	NM_001378183.1(PIEZO2):c.3249+80C>T	noncoding	Benign
18	10762701	C	T	C10762701T	PIEZO2	NM_001378183.1(PIEZO2):c.3124-76G>A	noncoding	Benign
18	10762812	G	A	G10762812A	PIEZO2	NM_001378183.1(PIEZO2):c.3123+110C>T	noncoding	Benign
18	10763134	C	T	C10763134T	PIEZO2	NM_001378183.1(PIEZO2):c.2947-36G>A	noncoding	Benign
18	10763220	T	C	T10763220C	PIEZO2	NM_001378183.1(PIEZO2):c.2947-122A>G	noncoding	Benign
18	10763223	G	A	G10763223A	PIEZO2	NM_001378183.1(PIEZO2):c.2947-125C>T	noncoding	Benign
18	10769839	T	C	T10769839C	PIEZO2	NM_001378183.1(PIEZO2):c.2946+309A>G	noncoding	Benign
18	10769847	T	C	T10769847C	PIEZO2	NM_001378183.1(PIEZO2):c.2946+301A>G	noncoding	Benign
18	10769904	T	C	T10769904C	PIEZO2	NM_001378183.1(PIEZO2):c.2946+244A>G	noncoding	Benign
18	10770347	T	A	T10770347A	PIEZO2	NM_001378183.1(PIEZO2):c.2786-39A>T	noncoding	Benign
18	10770497	T	A	T10770497A	PIEZO2	NM_001378183.1(PIEZO2):c.2786-189A>T	noncoding	Benign
18	10773161	A	G	A10773161G	PIEZO2	NM_001378183.1(PIEZO2):c.2785+251T>C	noncoding	Benign
18	10773179	A	T	A10773179T	PIEZO2	NM_001378183.1(PIEZO2):c.2785+233T>A	noncoding	Benign
18	10773201	T	C	T10773201C	PIEZO2	NM_001378183.1(PIEZO2):c.2785+211A>G	noncoding	Benign
18	10773326	A	G	A10773326G	PIEZO2	NM_001378183.1(PIEZO2):c.2785+86T>C	noncoding	Benign
18	10773340	C	G	C10773340G	PIEZO2	NM_001378183.1(PIEZO2):c.2785+72G>C	noncoding	Benign
18	10773786	G	T	G10773786T	PIEZO2	NM_001378183.1(PIEZO2):c.2568-157C>A	noncoding	Benign
18	10773860	G	T	G10773860T	PIEZO2	NM_001378183.1(PIEZO2):c.2567+146C>A	noncoding	Benign
18	10784904	A	T	A10784904T	PIEZO2	NM_001378183.1(PIEZO2):c.2372T>A:p.Ile791Lys	coding	Pathogenic
18	10785072	A	C	A10785072C	PIEZO2	NM_001378183.1(PIEZO2):c.2319-115T>G	noncoding	Benign
18	10785103	T	C	T10785103C	PIEZO2	NM_001378183.1(PIEZO2):c.2319-146A>G	noncoding	Benign
18	10787018	C	G	C10787018G	PIEZO2	NM_001378183.1(PIEZO2):c.2318+18G>C	noncoding	Benign/Likely_benign
18	10787467	C	T	C10787467T	PIEZO2	NM_001378183.1(PIEZO2):c.2170-283G>A	noncoding	Benign
18	10789016	G	A	G10789016A	PIEZO2	NM_001378183.1(PIEZO2):c.2169+63C>T	noncoding	Benign
18	10791007	C	A	C10791007A	PIEZO2	NM_001378183.1(PIEZO2):c.1882+194G>T	noncoding	Benign
18	10794609	C	G	C10794609G	PIEZO2	NM_001378183.1(PIEZO2):c.1758+163G>C	noncoding	Benign
18	10795043	A	G	A10795043G	PIEZO2	NM_001378183.1(PIEZO2):c.1528-41T>C	noncoding	Benign
18	10795053	C	A	C10795053A	PIEZO2	NM_001378183.1(PIEZO2):c.1528-51G>T	noncoding	Benign
18	10795059	C	G	C10795059G	PIEZO2	NM_001378183.1(PIEZO2):c.1528-57G>C	noncoding	Benign
18	10795080	A	G	A10795080G	PIEZO2	NM_001378183.1(PIEZO2):c.1528-78T>C	noncoding	Benign
18	10795130	T	C	T10795130C	PIEZO2	NM_001378183.1(PIEZO2):c.1528-128A>G	noncoding	Benign
18	10795193	T	C	T10795193C	PIEZO2	NM_001378183.1(PIEZO2):c.1528-191A>G	noncoding	Benign
18	10795279	A	G	A10795279G	PIEZO2	NM_001378183.1(PIEZO2):c.1528-277T>C	noncoding	Benign
18	10795325	T	C	T10795325C	PIEZO2	NM_001378183.1(PIEZO2):c.1528-323A>G	noncoding	Benign
18	10795330	T	C	T10795330C	PIEZO2	NM_001378183.1(PIEZO2):c.1528-328A>G	noncoding	Benign
18	10795335	T	C	T10795335C	PIEZO2	NM_001378183.1(PIEZO2):c.1528-333A>G	noncoding	Benign
18	10795340	T	C	T10795340C	PIEZO2	NM_001378183.1(PIEZO2):c.1528-338A>G	noncoding	Benign
18	10797569	A	G	A10797569G	PIEZO2	NM_001378183.1(PIEZO2):c.1379-47T>C	noncoding	Benign
18	10797644	G	T	G10797644T	PIEZO2	NM_001378183.1(PIEZO2):c.1379-122C>A	noncoding	Benign
18	10797684	G	A	G10797684A	PIEZO2	NM_001378183.1(PIEZO2):c.1379-162C>T	noncoding	Benign
18	10797733	A	G	A10797733G	PIEZO2	NM_001378183.1(PIEZO2):c.1379-211T>C	noncoding	Benign
18	10797830	T	C	T10797830C	PIEZO2	NM_001378183.1(PIEZO2):c.1379-308A>G	noncoding	Benign
18	10800097	A	G	A10800097G	PIEZO2	NM_001378183.1(PIEZO2):c.1378+240T>C	noncoding	Benign
18	10800724	C	T	C10800724T	PIEZO2	NM_001378183.1(PIEZO2):c.1240-249G>A	noncoding	Benign
18	10801091	A	G	A10801091G	PIEZO2	NM_001378183.1(PIEZO2):c.1239+299T>C	noncoding	Benign
18	10801190	T	C	T10801190C	PIEZO2	NM_001378183.1(PIEZO2):c.1239+200A>G	noncoding	Benign
18	10801697	A	G	A10801697G	PIEZO2	NM_001378183.1(PIEZO2):c.1201-269T>C	noncoding	Benign
18	10801726	G	A	G10801726A	PIEZO2	NM_001378183.1(PIEZO2):c.1201-298C>T	noncoding	Benign
18	10806869	T	C	T10806869C	PIEZO2	NM_001378183.1(PIEZO2):c.1080+243A>G	noncoding	Benign
18	10806900	C	A	C10806900A	PIEZO2	NM_001378183.1(PIEZO2):c.1080+212G>T	noncoding	Benign
18	10855568	T	C	T10855568C	PIEZO2	NM_001378183.1(PIEZO2):c.704-2A>G	noncoding	Pathogenic
18	10855592	A	C	A10855592C	PIEZO2	NM_001378183.1(PIEZO2):c.704-26T>G	noncoding	Benign
18	10855805	A	T	A10855805T	PIEZO2	NM_001378183.1(PIEZO2):c.704-239T>A	noncoding	Benign
18	10856850	G	A	G10856850A	PIEZO2	NM_001378183.1(PIEZO2):c.703+151C>T	noncoding	Benign
18	10857503	A	G	A10857503G	PIEZO2	NM_001378183.1(PIEZO2):c.493-292T>C	noncoding	Benign
18	10871312	G	A	G10871312A	PIEZO2	NM_001378183.1(PIEZO2):c.433C>T:p.Gln145Ter	coding	Pathogenic
18	10979265	A	T	A10979265T	PIEZO2	NM_001378183.1(PIEZO2):c.286+270T>A	noncoding	Benign
18	10979482	C	T	C10979482T	PIEZO2	NM_001378183.1(PIEZO2):c.286+53G>A	noncoding	Benign
18	10979950	C	A	C10979950A	PIEZO2	NM_001378183.1(PIEZO2):c.161-290G>T	noncoding	Benign
18	11065994	A	G	A11065994G	PIEZO2	NM_001378183.1(PIEZO2):c.160+133T>C	noncoding	Benign
18	11066011	T	C	T11066011C	PIEZO2	NM_001378183.1(PIEZO2):c.160+116A>G	noncoding	Benign
18	11066042	A	T	A11066042T	PIEZO2	NM_001378183.1(PIEZO2):c.160+85T>A	noncoding	Benign
18	11066418	G	A	G11066418A	PIEZO2	NM_001378183.1(PIEZO2):c.65-196C>T	noncoding	Benign
18	11066479	A	G	A11066479G	PIEZO2	NM_001378183.1(PIEZO2):c.65-257T>C	noncoding	Benign
18	11148315	G	A	G11148315A	PIEZO2	NM_001378183.1(PIEZO2):c.64+210C>T	noncoding	Benign
18	11688873	A	G	A11688873G	GNAL	Single_allele	noncoding	Benign
18	11688980	G	A	G11688980A	GNAL	Single_allele	noncoding	Benign
18	11689523	T	C	T11689523C	GNAL	NM_182978.4(GNAL):c.-41T>C	noncoding	Benign
18	11689700	G	A	G11689700A	GNAL	NM_182978.4(GNAL):c.137G>A:p.Arg46Lys	coding	Benign
18	11689815	G	A	G11689815A	GNAL	NM_182978.4(GNAL):c.252G>A:p.Glu84=	coding	Benign
18	11690020	T	C	T11690020C	GNAL	NM_182978.4(GNAL):c.376+81T>C	noncoding	Benign
18	11690180	A	C	A11690180C	GNAL	NM_182978.4(GNAL):c.376+241A>C	noncoding	Benign
18	11751989	T	G	T11751989G	GNAL	NM_182978.4(GNAL):c.377-864T>G	noncoding	Benign
18	11752003	C	T	C11752003T	GNAL	NM_182978.4(GNAL):c.377-850C>T	noncoding	Benign
18	11752524	C	T	C11752524T	GNAL	NM_001369387.1(GNAL):c.91C>T:p.Gln31Ter	coding	Pathogenic
18	11752737	C	G	C11752737G	GNAL	NM_182978.4(GNAL):c.377-116C>G	noncoding	Benign
18	11752944	C	A	C11752944A	GNAL	NM_182978.4(GNAL):c.449+19C>A	noncoding	Benign
18	11753407	A	T	A11753407T	GNAL	NM_182978.4(GNAL):c.450-221A>T	noncoding	Benign
18	11753463	T	C	T11753463C	GNAL	NM_182978.4(GNAL):c.450-165T>C	noncoding	Benign
18	11753488	G	A	G11753488A	GNAL	NM_182978.4(GNAL):c.450-140G>A	noncoding	Benign
18	11753717	G	A	G11753717A	GNAL	NM_182978.4(GNAL):c.504+35G>A	noncoding	Benign
18	11753993	T	C	T11753993C	GNAL	NM_182978.4(GNAL):c.624+48T>C	noncoding	Benign
18	11754035	T	C	T11754035C	GNAL	NM_182978.4(GNAL):c.624+90T>C	noncoding	Benign
18	11824698	C	T	C11824698T	GNAL	NM_182978.4(GNAL):c.625-220C>T	noncoding	Benign
18	11824773	C	G	C11824773G	GNAL	NM_182978.4(GNAL):c.625-145C>G	noncoding	Benign
18	11824830	A	G	A11824830G	GNAL	NM_182978.4(GNAL):c.625-88A>G	noncoding	Benign
18	11824881	T	A	T11824881A	GNAL	NM_182978.4(GNAL):c.625-37T>A	noncoding	Benign
18	11824887	T	G	T11824887G	GNAL	NM_182978.4(GNAL):c.625-31T>G	noncoding	Benign
18	11825213	G	C	G11825213C	GNAL	NM_182978.4(GNAL):c.722+198G>C	noncoding	Benign
18	11825227	C	T	C11825227T	GNAL	NM_182978.4(GNAL):c.722+212C>T	noncoding	Benign
18	11862698	T	C	T11862698C	GNAL	NM_182978.4(GNAL):c.777+249T>C	noncoding	Benign
18	11864708	A	G	A11864708G	GNAL	NM_182978.4(GNAL):c.851+102A>G	noncoding	Benign
18	11864721	A	G	A11864721G	GNAL	NM_182978.4(GNAL):c.851+115A>G	noncoding	Benign
18	11864724	A	G	A11864724G	GNAL	NM_182978.4(GNAL):c.851+118A>G	noncoding	Benign
18	11867153	C	T	C11867153T	GNAL	NM_182978.4(GNAL):c.852-15C>T	noncoding	Benign
18	11867245	C	G	C11867245G	GNAL	NM_182978.4(GNAL):c.910+19C>G	noncoding	Benign
18	11867298	C	T	C11867298T	GNAL	NM_182978.4(GNAL):c.910+72C>T	noncoding	Benign
18	11872143	C	G	C11872143G	GNAL	NM_182978.4(GNAL):c.1032-125C>G	noncoding	Benign
18	11872155	C	T	C11872155T	GNAL	NM_182978.4(GNAL):c.1032-113C>T	noncoding	Benign
18	11872175	G	T	G11872175T	GNAL	NM_182978.4(GNAL):c.1032-93G>T	noncoding	Benign
18	11872517	T	C	T11872517C	GNAL	NM_182978.4(GNAL):c.1162+119T>C	noncoding	Benign
18	11872574	C	A	C11872574A	GNAL	NM_182978.4(GNAL):c.1162+176C>A	noncoding	Benign
18	11876676	G	C	G11876676C	GNAL	NM_182978.4(GNAL):c.1218G>C:p.Arg406=	coding	Benign
18	11880975	G	A	G11880975A	GNAL	NM_182978.4(GNAL):c.1231-14G>A	noncoding	Benign
18	11881325	G	A	G11881325A	GNAL	NM_182978.4(GNAL):c.*190G>A	noncoding	Benign
18	12308244	T	A	T12308244A	TUBB6	NM_032525.3(TUBB6):c.-49T>A	noncoding	Benign
18	12308246	C	T	C12308246T	TUBB6	NM_032525.3(TUBB6):c.-47C>T	noncoding	Benign
18	12308274	G	T	G12308274T	TUBB6	NM_032525.3(TUBB6):c.-19G>T	noncoding	Benign
18	12308378	C	A	C12308378A	TUBB6	NM_032525.3(TUBB6):c.57+29C>A	noncoding	Benign
18	12308794	G	C	G12308794C	TUBB6	NM_032525.3(TUBB6):c.165G>C:p.Ser55=	coding	Benign
18	12329925	G	A	G12329925A	AFG3L2	NM_006796.3(AFG3L2):c.2176-142C>T	noncoding	Benign
18	12337211	A	T	A12337211T	AFG3L2	NM_006796.3(AFG3L2):c.2175+130T>A	noncoding	Benign
18	12337411	C	T	C12337411T	AFG3L2	NM_006796.3(AFG3L2):c.2105G>A:p.Arg702Gln	coding	Pathogenic/Likely_pathogenic
18	12337520	T	C	T12337520C	AFG3L2	NM_006796.3(AFG3L2):c.1996A>G:p.Met666Val	coding	Pathogenic/Likely_pathogenic
18	12337763	T	C	T12337763C	AFG3L2	NM_006796.3(AFG3L2):c.1981-228A>G	noncoding	Benign
18	12339968	C	T	C12339968T	AFG3L2	NM_006796.3(AFG3L2):c.1980+233G>A	noncoding	Benign
18	12340334	T	C	T12340334C	AFG3L2	NM_006796.3(AFG3L2):c.1847A>G:p.Tyr616Cys	coding	Pathogenic
18	12348000	C	T	C12348000T	AFG3L2	NM_006796.3(AFG3L2):c.1663+273G>A	noncoding	Benign
18	12348092	A	G	A12348092G	AFG3L2	NM_006796.3(AFG3L2):c.1663+181T>C	noncoding	Benign
18	12351354	C	T	C12351354T	AFG3L2	NM_006796.3(AFG3L2):c.1378G>A:p.Asp460Asn	coding	Pathogenic
18	12351420	G	A	G12351420A	AFG3L2	NM_006796.3(AFG3L2):c.1319-7C>T	noncoding	Benign/Likely_benign
18	12353179	A	T	A12353179T	AFG3L2	NM_006796.3(AFG3L2):c.1165-21T>A	noncoding	Benign
18	12353383	G	A	G12353383A	AFG3L2	NM_006796.3(AFG3L2):c.1165-225C>T	noncoding	Benign
18	12353409	G	A	G12353409A	AFG3L2	NM_006796.3(AFG3L2):c.1165-251C>T	noncoding	Benign
18	12358998	A	G	A12358998G	AFG3L2	NM_006796.3(AFG3L2):c.753-55T>C	noncoding	Benign
18	12360049	T	C	T12360049C	AFG3L2	NM_006796.3(AFG3L2):c.630A>G:p.Gln210=	coding	Benign
18	12363684	C	T	C12363684T	AFG3L2	NM_006796.3(AFG3L2):c.627+98G>A	noncoding	Benign
18	12363951	C	T	C12363951T	AFG3L2	NM_006796.3(AFG3L2):c.553-95G>A	noncoding	Benign
18	12366938	C	T	C12366938T	AFG3L2	NM_006796.3(AFG3L2):c.552+27G>A	noncoding	Benign
18	12367443	T	C	T12367443C	AFG3L2	NM_006796.3(AFG3L2):c.293-61A>G	noncoding	Benign
18	12367607	C	T	C12367607T	AFG3L2	NM_006796.3(AFG3L2):c.293-225G>A	noncoding	Benign
18	12370755	G	A	G12370755A	AFG3L2	NM_006796.3(AFG3L2):c.292+94C>T	noncoding	Benign
18	12377416	C	T	C12377416T	AFG3L2	Single_allele	noncoding	Benign
18	12377426	A	G	A12377426G	AFG3L2	Single_allele	noncoding	Benign
18	12703147	G	A	G12703147A	PSMG2	NM_020232.5(PSMG2):c.40G>A:p.Gly14Ser	coding	Benign
18	12706673	T	C	T12706673C	PSMG2	NM_020232.5(PSMG2):c.181T>C:p.Tyr61His	coding	Benign
18	12706683	C	T	C12706683T	PSMG2	NM_020232.5(PSMG2):c.191C>T:p.Thr64Ile	coding	Benign
18	12712719	A	G	A12712719G	PSMG2	NM_020232.5(PSMG2):c.247A>G:p.Arg83Gly	coding	Benign
18	12718594	A	G	A12718594G	PSMG2	NM_020232.5(PSMG2):c.366A>G:p.Ser122=	coding	Benign
18	12718648	C	T	C12718648T	PSMG2	NM_020232.5(PSMG2):c.407+13C>T	noncoding	Benign
18	12720639	C	T	C12720639T	PSMG2	NM_020232.5(PSMG2):c.537C>T:p.Ile179=	coding	Benign
18	12720641	G	A	G12720641A	PSMG2	NM_020232.5(PSMG2):c.539G>A:p.Arg180His	coding	Benign
18	12724483	T	A	T12724483A	PSMG2	NM_020232.5(PSMG2):c.582-16T>A	noncoding	Benign
18	12725432	A	G	A12725432G	PSMG2	NM_020232.5(PSMG2):c.703-7A>G	noncoding	Benign
18	13884752	G	A	G13884752A	MC2R	NM_000529.2(MC2R):c.767C>T:p.Ser256Phe	coding	Pathogenic
18	21395573	A	G	A21395573G	GREB1L	NM_001142966.3(GREB1L):c.532+12A>G	noncoding	Benign
18	21401322	G	T	G21401322T	GREB1L	NM_001142966.3(GREB1L):c.705G>T:p.Trp235Cys	coding	Pathogenic
18	21444346	G	A	G21444346A	GREB1L	NM_001142966.3(GREB1L):c.1330G>A:p.Gly444Ser	coding	Benign
18	21449554	C	T	C21449554T	GREB1L	NM_001142966.3(GREB1L):c.1438C>T:p.Leu480=	coding	Benign
18	21451011	T	C	T21451011C	GREB1L	NM_001142966.3(GREB1L):c.1721-12T>C	noncoding	Benign
18	21451037	C	T	C21451037T	GREB1L	NM_001142966.3(GREB1L):c.1735C>T:p.Arg579Ter	coding	Pathogenic
18	21499892	A	G	A21499892G	GREB1L	NM_001142966.3(GREB1L):c.3555A>G:p.Glu1185=	coding	Benign
18	21500212	G	A	G21500212A	GREB1L	NM_001142966.3(GREB1L):c.3875G>A:p.Arg1292Gln	coding	Benign
18	21513812	G	A	G21513812A	GREB1L	NM_001142966.3(GREB1L):c.4736-9G>A	noncoding	Benign
18	21515507	T	A	T21515507A	GREB1L	NM_001142966.3(GREB1L):c.4992T>A:p.Tyr1664Ter	coding	Pathogenic
18	21520756	T	C	T21520756C	GREB1L	NM_001142966.3(GREB1L):c.5541T>C:p.Ser1847=	coding	Benign
18	21741567	C	T	C21741567T	MIB1	NM_020774.4(MIB1):c.-17C>T	noncoding	Benign/Likely_benign
18	21765759	C	T	C21765759T	MIB1	NM_020774.4(MIB1):c.230-13C>T	noncoding	Benign
18	21799830	A	T	A21799830T	MIB1	NM_020774.4(MIB1):c.1238-11A>T	noncoding	Benign/Likely_benign
18	21803895	T	A	T21803895A	MIB1	NM_020774.4(MIB1):c.1372-12T>A	noncoding	Benign/Likely_benign
18	21819285	C	T	C21819285T	MIB1	NM_020774.4(MIB1):c.1678-210C>T	noncoding	Benign
18	21843042	T	C	T21843042C	MIB1	NM_020774.4(MIB1):c.1963-89T>C	noncoding	Benign
18	21849405	A	G	A21849405G	MIB1	NM_020774.4(MIB1):c.2586+17A>G	noncoding	Benign/Likely_benign
18	21864700	A	C	A21864700C	MIB1	NM_020774.4(MIB1):c.*34A>C	noncoding	Benign
18	22177061	C	A	C22177061A	GATA6	NM_005257.6(GATA6):c.1242C>A:p.Cys414Ter	coding	Pathogenic
18	22177141	C	T	C22177141T	GATA6	NM_005257.6(GATA6):c.1302+20C>T	noncoding	Benign
18	22181471	G	T	G22181471T	GATA6	NM_005257.6(GATA6):c.1321G>T:p.Gly441Ter	coding	Pathogenic
18	22182861	G	A	G22182861A	GATA6	NM_005257.6(GATA6):c.1516+17G>A	noncoding	Benign
18	22182863	C	T	C22182863T	GATA6	NM_005257.6(GATA6):c.1516+19C>T	noncoding	Benign
18	22183050	A	G	A22183050G	GATA6	NM_005257.6(GATA6):c.1620+7A>G	noncoding	Benign
18	22200895	G	A	G22200895A	GATA6	NM_005257.6(GATA6):c.*72G>A	noncoding	Benign
18	22200900	A	G	A22200900G	GATA6	NM_005257.6(GATA6):c.*77A>G	noncoding	Benign
18	22946205	A	G	A22946205G	RBBP8	NM_002894.3(RBBP8):c.110-239A>G	noncoding	Benign
18	22946510	A	T	A22946510T	RBBP8	NM_002894.3(RBBP8):c.152+24A>T	noncoding	Benign
18	22949892	G	C	G22949892C	RBBP8	NM_002894.3(RBBP8):c.248+179G>C	noncoding	Benign
18	22968520	T	C	T22968520C	RBBP8	NM_002894.3(RBBP8):c.249-286T>C	noncoding	Benign
18	22975386	G	A	G22975386A	RBBP8	NM_002894.3(RBBP8):c.428+167G>A	noncoding	Benign
18	22985129	T	C	T22985129C	RBBP8	NM_002894.3(RBBP8):c.709+139T>C	noncoding	Benign
18	22985259	T	C	T22985259C	RBBP8	NM_002894.3(RBBP8):c.709+269T>C	noncoding	Benign
18	22989500	A	G	A22989500G	RBBP8	NM_002894.3(RBBP8):c.807+182A>G	noncoding	Benign
18	22990741	A	G	A22990741G	RBBP8	NM_002894.3(RBBP8):c.808-196A>G	noncoding	Benign
18	22993903	A	G	A22993903G	RBBP8	NM_002894.3(RBBP8):c.1939+56A>G	noncoding	Benign
18	22993910	A	G	A22993910G	RBBP8	NM_002894.3(RBBP8):c.1939+63A>G	noncoding	Benign
18	22997473	G	A	G22997473A	RBBP8	NM_002894.3(RBBP8):c.2029-147G>A	noncoding	Benign
18	22997646	A	G	A22997646G	RBBP8	NM_002894.3(RBBP8):c.2055A>G:p.Gly685=	coding	Benign
18	22997706	G	A	G22997706A	RBBP8	NM_002894.3(RBBP8):c.2115G>A:p.Lys705=	coding	Benign
18	22997826	T	C	T22997826C	RBBP8	NM_002894.3(RBBP8):c.2143+92T>C	noncoding	Benign
18	23001376	G	A	G23001376A	RBBP8	NM_002894.3(RBBP8):c.2144-210G>A	noncoding	Benign
18	23001504	T	C	T23001504C	RBBP8	NM_002894.3(RBBP8):c.2144-82T>C	noncoding	Benign
18	23001847	G	A	G23001847A	RBBP8	NM_002894.3(RBBP8):c.2287+118G>A	noncoding	Benign
18	23534444	A	T	A23534444T	NPC1	NM_000271.5(NPC1):c.3591+2T>A	noncoding	Pathogenic
18	23534736	T	C	T23534736C	NPC1	NM_000271.5(NPC1):c.3478-177A>G	noncoding	Benign
18	23535495	C	T	C23535495T	NPC1	NM_000271.5(NPC1):c.3451G>A:p.Ala1151Thr	coding	Pathogenic/Likely_pathogenic
18	23535521	A	G	A23535521G	NPC1	NM_000271.5(NPC1):c.3425T>C:p.Met1142Thr	coding	Pathogenic/Likely_pathogenic
18	23535524	A	C	A23535524C	NPC1	NM_000271.5(NPC1):c.3422T>G:p.Val1141Gly	coding	Pathogenic
18	23535691	A	T	A23535691T	NPC1	NM_000271.5(NPC1):c.3255T>A:p.Tyr1085Ter	coding	Pathogenic/Likely_pathogenic
18	23535942	A	C	A23535942C	NPC1	NM_000271.5(NPC1):c.3246-242T>G	noncoding	Benign
18	23536672	C	A	C23536672A	NPC1	NM_000271.5(NPC1):c.3245+1G>T	noncoding	Pathogenic
18	23536850	A	C	A23536850C	NPC1	NM_000271.5(NPC1):c.3068T>G:p.Val1023Gly	coding	Pathogenic
18	23536862	T	C	T23536862C	NPC1	NM_000271.5(NPC1):c.3056A>G:p.Tyr1019Cys	coding	Pathogenic/Likely_pathogenic
18	23536874	C	A	C23536874A	NPC1	NM_000271.5(NPC1):c.3044G>T:p.Gly1015Val	coding	Pathogenic
18	23537034	A	G	A23537034G	NPC1	NM_000271.5(NPC1):c.3042-158T>C	noncoding	Benign
18	23538541	C	A	C23538541A	NPC1	NM_000271.5(NPC1):c.3041+1G>T	noncoding	Pathogenic
18	23538655	G	T	G23538655T	NPC1	NM_000271.5(NPC1):c.2928C>A:p.Cys976Ter	coding	Pathogenic
18	23539283	G	A	G23539283A	NPC1	NM_000271.5(NPC1):c.2911+72C>T	noncoding	Benign
18	23539419	C	T	C23539419T	NPC1	NM_000271.5(NPC1):c.2847G>A:p.Trp949Ter	coding	Pathogenic
18	23539824	G	A	G23539824A	NPC1	NM_000271.5(NPC1):c.2782C>T:p.Gln928Ter	coding	Pathogenic
18	23539826	G	A	G23539826A	NPC1	NM_000271.5(NPC1):c.2780C>T:p.Ala927Val	coding	Pathogenic/Likely_pathogenic
18	23539830	C	T	C23539830T	NPC1	NM_000271.5(NPC1):c.2776G>A:p.Ala926Thr	coding	Pathogenic/Likely_pathogenic
18	23539923	C	A	C23539923A	NPC1	NM_000271.5(NPC1):c.2683G>T:p.Glu895Ter	coding	Pathogenic
18	23540071	T	C	T23540071C	NPC1	NM_000271.5(NPC1):c.2605-70A>G	noncoding	Benign
18	23540183	C	A	C23540183A	NPC1	NM_000271.5(NPC1):c.2605-182G>T	noncoding	Benign
18	23540443	C	T	C23540443T	NPC1	NM_000271.5(NPC1):c.2604+5G>A	noncoding	Pathogenic
18	23540446	A	C	A23540446C	NPC1	NM_000271.5(NPC1):c.2604+2T>G	noncoding	Pathogenic
18	23540539	T	C	T23540539C	NPC1	NM_000271.5(NPC1):c.2515-2A>G	noncoding	Pathogenic
18	23540905	A	G	A23540905G	NPC1	NM_000271.5(NPC1):c.2514+163T>C	noncoding	Benign
18	23541108	T	C	T23541108C	NPC1	NM_000271.5(NPC1):c.2474A>G:p.Tyr825Cys	coding	Pathogenic/Likely_pathogenic
18	23541209	C	T	C23541209T	NPC1	NM_000271.5(NPC1):c.2374-1G>A	coding	Pathogenic
18	23541382	A	T	A23541382T	NPC1	NM_000271.5(NPC1):c.2297T>A:p.Leu766Ter	coding	Pathogenic
18	23541388	G	A	G23541388A	NPC1	NM_000271.5(NPC1):c.2291C>T:p.Ala764Val	coding	Pathogenic
18	23541388	G	T	G23541388T	NPC1	NM_000271.5(NPC1):c.2291C>A:p.Ala764Glu	coding	Pathogenic
18	23543554	G	A	G23543554A	NPC1	NM_000271.5(NPC1):c.2146C>T:p.Gln716Ter	coding	Pathogenic/Likely_pathogenic
18	23544288	T	C	T23544288C	NPC1	NM_000271.5(NPC1):c.2130+56A>G	noncoding	Benign
18	23544402	G	A	G23544402A	NPC1	NM_000271.5(NPC1):c.2072C>T:p.Pro691Leu	coding	Pathogenic/Likely_pathogenic
18	23544474	G	A	G23544474A	NPC1	NM_000271.5(NPC1):c.2000C>T:p.Ser667Leu	coding	Pathogenic
18	23544837	A	C	A23544837C	NPC1	NM_000271.5(NPC1):c.1947+123T>G	noncoding	Benign
18	23544870	A	G	A23544870G	NPC1	NM_000271.5(NPC1):c.1947+90T>C	noncoding	Benign
18	23547946	C	T	C23547946T	NPC1	NM_000271.5(NPC1):c.1757+60G>A	noncoding	Benign
18	23548004	A	C	A23548004C	NPC1	NM_000271.5(NPC1):c.1757+2T>G	noncoding	Pathogenic
18	23548005	C	A	C23548005A	NPC1	NM_000271.5(NPC1):c.1757+1G>T	noncoding	Pathogenic
18	23551569	A	G	A23551569G	NPC1	NM_000271.5(NPC1):c.1654+58T>C	noncoding	Benign
18	23551626	C	T	C23551626T	NPC1	NM_000271.5(NPC1):c.1654+1G>A	noncoding	Pathogenic
18	23551965	T	C	T23551965C	NPC1	NM_000271.5(NPC1):c.1554-238A>G	noncoding	Benign
18	23552408	G	A	G23552408A	NPC1	NM_000271.5(NPC1):c.1554-681C>T	noncoding	Benign
18	23552607	G	C	G23552607C	NPC1	NM_000271.5(NPC1):c.1554-880C>G	noncoding	Benign
18	23554759	G	A	G23554759A	NPC1	NM_000271.5(NPC1):c.1552C>T:p.Arg518Trp	coding	Pathogenic/Likely_pathogenic
18	23554893	G	C	G23554893C	NPC1	NM_000271.5(NPC1):c.1418C>G:p.Ser473Ter	coding	Pathogenic
18	23554972	G	A	G23554972A	NPC1	NM_000271.5(NPC1):c.1339C>T:p.Gln447Ter	coding	Pathogenic/Likely_pathogenic
18	23556257	G	A	G23556257A	NPC1	NM_000271.5(NPC1):c.1312C>T:p.Gln438Ter	coding	Pathogenic/Likely_pathogenic
18	23556299	G	A	G23556299A	NPC1	NM_000271.5(NPC1):c.1270C>T:p.Pro424Ser	coding	Pathogenic
18	23556359	G	A	G23556359A	NPC1	NM_000271.5(NPC1):c.1210C>T:p.Arg404Trp	coding	Pathogenic/Likely_pathogenic
18	23556446	T	C	T23556446C	NPC1	NM_000271.5(NPC1):c.1123A>G:p.Thr375Ala	coding	Pathogenic
18	23556499	G	A	G23556499A	NPC1	NM_000271.5(NPC1):c.1070C>T:p.Ser357Leu	coding	Pathogenic/Likely_pathogenic
18	23556527	G	A	G23556527A	NPC1	NM_000271.5(NPC1):c.1042C>T:p.Arg348Ter	coding	Pathogenic
18	23556541	C	T	C23556541T	NPC1	NM_000271.5(NPC1):c.1028G>A:p.Gly343Glu	coding	Pathogenic
18	23556674	G	A	G23556674A	NPC1	NM_000271.5(NPC1):c.956-61C>T	noncoding	Benign
18	23561343	G	A	G23561343A	NPC1	NM_000271.5(NPC1):c.631+17C>T	noncoding	Benign/Likely_benign
18	23561485	T	A	T23561485A	NPC1	NM_000271.5(NPC1):c.506A>T:p.Asn169Ile	coding	Pathogenic
18	23568804	T	C	T23568804C	NPC1	NM_000271.5(NPC1):c.463+19A>G	noncoding	Benign/Likely_benign
18	23568937	G	A	G23568937A	NPC1	NM_000271.5(NPC1):c.349C>T:p.Gln117Ter	coding	Pathogenic
18	23573547	C	A	C23573547A	NPC1	NM_000271.5(NPC1):c.85G>T:p.Gly29Ter	coding	Pathogenic
18	23586276	C	G	C23586276G	NPC1	NM_000271.5(NPC1):c.57+11G>C	noncoding	Benign
18	23586581	G	C	G23586581C	NPC1	NM_000271.4(NPC1):c.-238C>G	noncoding	Benign/Likely_benign
18	23586828	C	T	C23586828T	NPC1	Single_allele	noncoding	Benign
18	23689740	G	C	G23689740C	LAMA3	NM_198129.4(LAMA3):c.57G>C:p.Thr19=	coding	Benign
18	23690024	G	T	G23690024T	LAMA3	NM_198129.4(LAMA3):c.294+47G>T	noncoding	Benign
18	23690207	A	C	A23690207C	LAMA3	NM_198129.4(LAMA3):c.294+230A>C	noncoding	Benign
18	23714058	T	C	T23714058C	LAMA3	NM_198129.4(LAMA3):c.433T>C:p.Leu145=	coding	Benign
18	23748124	G	T	G23748124T	LAMA3	NM_198129.4(LAMA3):c.565+64G>T	noncoding	Benign
18	23749613	A	G	A23749613G	LAMA3	NM_198129.4(LAMA3):c.684+67A>G	noncoding	Benign
18	23753554	T	C	T23753554C	LAMA3	NM_198129.4(LAMA3):c.856-167T>C	noncoding	Benign
18	23758312	C	T	C23758312T	LAMA3	NM_198129.4(LAMA3):c.948-84C>T	noncoding	Benign
18	23763175	A	T	A23763175T	LAMA3	NM_198129.4(LAMA3):c.1064-230A>T	noncoding	Benign
18	23763390	A	G	A23763390G	LAMA3	NM_198129.4(LAMA3):c.1064-15A>G	noncoding	Benign
18	23773387	C	T	C23773387T	LAMA3	NM_198129.4(LAMA3):c.1183-110C>T	noncoding	Benign
18	23773713	C	T	C23773713T	LAMA3	NM_198129.4(LAMA3):c.1273+126C>T	coding	Benign
18	23775620	C	T	C23775620T	LAMA3	NM_198129.4(LAMA3):c.1274-172C>T	noncoding	Benign
18	23775948	G	A	G23775948A	LAMA3	NM_198129.4(LAMA3):c.1405+25G>A	noncoding	Benign
18	23784372	A	T	A23784372T	LAMA3	NM_198129.4(LAMA3):c.1603+215A>T	noncoding	Benign
18	23814420	G	A	G23814420A	LAMA3	NM_198129.4(LAMA3):c.1806G>A:p.Lys602=	coding	Benign
18	23814615	G	A	G23814615A	LAMA3	NM_198129.4(LAMA3):c.1888+113G>A	noncoding	Benign
18	23814751	T	G	T23814751G	LAMA3	NM_198129.4(LAMA3):c.1888+249T>G	noncoding	Benign
18	23815394	G	C	G23815394C	LAMA3	NM_198129.4(LAMA3):c.1942-74G>C	noncoding	Benign
18	23816593	C	T	C23816593T	LAMA3	NM_198129.4(LAMA3):c.2147+106C>T	noncoding	Benign
18	23820035	G	A	G23820035A	LAMA3	NM_198129.4(LAMA3):c.2304+38G>A	noncoding	Benign
18	23820041	A	C	A23820041C	LAMA3	NM_198129.4(LAMA3):c.2304+44A>C	noncoding	Benign
18	23820064	G	T	G23820064T	LAMA3	NM_198129.4(LAMA3):c.2304+67G>T	noncoding	Benign
18	23821960	T	G	T23821960G	LAMA3	NM_198129.4(LAMA3):c.2305-292T>G	noncoding	Benign
18	23822111	C	G	C23822111G	LAMA3	NM_198129.4(LAMA3):c.2305-141C>G	noncoding	Benign
18	23822334	C	A	C23822334A	LAMA3	NM_198129.4(LAMA3):c.2387C>A:p.Thr796Asn	coding	Benign
18	23824370	A	G	A23824370G	LAMA3	NM_198129.4(LAMA3):c.2429-53A>G	noncoding	Benign
18	23824732	C	T	C23824732T	LAMA3	NM_198129.4(LAMA3):c.2571+167C>T	noncoding	Benign
18	23826485	A	C	A23826485C	LAMA3	NM_198129.4(LAMA3):c.2572-217A>C	noncoding	Benign
18	23834136	G	A	G23834136A	LAMA3	NM_198129.4(LAMA3):c.2984+148G>A	noncoding	Benign
18	23834146	G	A	G23834146A	LAMA3	NM_198129.4(LAMA3):c.2984+158G>A	noncoding	Benign
18	23836766	C	T	C23836766T	LAMA3	NM_198129.4(LAMA3):c.2985-215C>T	noncoding	Benign
18	23836992	G	A	G23836992A	LAMA3	NM_198129.4(LAMA3):c.2996G>A:p.Arg999Gln	coding	Benign
18	23837062	C	G	C23837062G	LAMA3	NM_198129.4(LAMA3):c.3066C>G:p.Leu1022=	coding	Benign
18	23838659	C	T	C23838659T	LAMA3	NM_198129.4(LAMA3):c.3094-122C>T	noncoding	Benign
18	23842429	T	G	T23842429G	LAMA3	NM_198129.4(LAMA3):c.3371T>G:p.Leu1124Arg	coding	Benign
18	23843018	C	G	C23843018G	LAMA3	NM_198129.4(LAMA3):c.3603+268C>G	noncoding	Benign
18	23844690	A	G	A23844690G	LAMA3	NM_198129.4(LAMA3):c.3604-319A>G	noncoding	Benign
18	23845022	T	C	T23845022C	LAMA3	NM_198129.4(LAMA3):c.3617T>C:p.Val1206Ala	coding	Benign
18	23845027	C	A	C23845027A	LAMA3	NM_198129.4(LAMA3):c.3622C>A:p.Pro1208Thr	coding	Benign/Likely_benign
18	23846067	G	C	G23846067C	LAMA3	NM_198129.4(LAMA3):c.3720-230G>C	noncoding	Benign
18	23847343	A	C	A23847343C	LAMA3	NM_198129.4(LAMA3):c.3932-121A>C	noncoding	Benign
18	23847585	C	T	C23847585T	LAMA3	NM_198129.4(LAMA3):c.4053C>T:p.Ala1351=	coding	Benign
18	23857565	G	T	G23857565T	LAMA3	NM_198129.4(LAMA3):c.4137-279G>T	noncoding	Benign
18	23857757	A	G	A23857757G	LAMA3	NM_198129.4(LAMA3):c.4137-87A>G	noncoding	Benign
18	23858668	T	C	T23858668C	LAMA3	NM_198129.4(LAMA3):c.4282-21T>C	noncoding	Benign
18	23859123	A	G	A23859123G	LAMA3	NM_198129.4(LAMA3):c.4422+294A>G	noncoding	Benign
18	23861338	T	A	T23861338A	LAMA3	NM_198129.4(LAMA3):c.4423-308T>A	noncoding	Benign
18	23861497	G	A	G23861497A	LAMA3	NM_198129.4(LAMA3):c.4423-149G>A	noncoding	Benign
18	23861520	G	A	G23861520A	LAMA3	NM_198129.4(LAMA3):c.4423-126G>A	noncoding	Benign
18	23861738	T	C	T23861738C	LAMA3	NM_198129.4(LAMA3):c.4515T>C:p.Asp1505=	coding	Benign
18	23861842	T	C	T23861842C	LAMA3	NM_198129.4(LAMA3):c.4584+35T>C	noncoding	Benign
18	23864638	C	T	C23864638T	LAMA3	NM_198129.4(LAMA3):c.4585-147C>T	noncoding	Benign
18	23864676	G	A	G23864676A	LAMA3	NM_198129.4(LAMA3):c.4585-109G>A	noncoding	Benign
18	23867807	A	G	A23867807G	LAMA3	NM_198129.4(LAMA3):c.4684-27A>G	noncoding	Benign
18	23873091	G	A	G23873091A	LAMA3	NM_000227.6(LAMA3):c.47G>A:p.Trp16Ter	coding	Pathogenic
18	23873213	C	T	C23873213T	LAMA3	NM_000227.6(LAMA3):c.169C>T:p.Gln57Ter	coding	Pathogenic
18	23876356	C	A	C23876356A	LAMA3	NM_198129.4(LAMA3):c.5061C>A:p.Cys1687Ter	coding	Pathogenic
18	23881681	G	A	G23881681A	LAMA3	NM_198129.4(LAMA3):c.5113-255G>A	noncoding	Benign
18	23881942	C	T	C23881942T	LAMA3	NM_198129.4(LAMA3):c.5119C>T:p.Gln1707Ter	coding	Pathogenic
18	23881960	G	T	G23881960T	LAMA3	NM_198129.4(LAMA3):c.5137G>T:p.Glu1713Ter	coding	Pathogenic
18	23890101	T	A	T23890101A	LAMA3	NM_198129.4(LAMA3):c.5394T>A:p.Cys1798Ter	coding	Pathogenic
18	23890190	C	T	C23890190T	LAMA3	NM_198129.4(LAMA3):c.5410+73C>T	noncoding	Benign
18	23890234	T	A	T23890234A	LAMA3	NM_198129.4(LAMA3):c.5410+117T>A	noncoding	Benign
18	23890360	T	A	T23890360A	LAMA3	NM_198129.4(LAMA3):c.5410+243T>A	noncoding	Benign
18	23893999	G	A	G23893999A	LAMA3	NM_198129.4(LAMA3):c.5411-299G>A	noncoding	Benign
18	23894601	G	A	G23894601A	LAMA3	NM_198129.4(LAMA3):c.5461+253G>A	noncoding	Benign
18	23894863	G	A	G23894863A	LAMA3	NM_198129.4(LAMA3):c.5462-44G>A	noncoding	Benign
18	23895041	C	T	C23895041T	LAMA3	NM_198129.4(LAMA3):c.5596C>T:p.Gln1866Ter	coding	Pathogenic
18	23895189	G	A	G23895189A	LAMA3	NM_198129.4(LAMA3):c.5613+131G>A	noncoding	Benign
18	23898788	A	C	A23898788C	LAMA3	NM_198129.4(LAMA3):c.5664A>C:p.Ile1888=	coding	Benign
18	23898957	C	T	C23898957T	LAMA3	NM_198129.4(LAMA3):c.5728C>T:p.Gln1910Ter	coding	Pathogenic
18	23899422	G	T	G23899422T	LAMA3	NM_198129.4(LAMA3):c.5971G>T:p.Glu1991Ter	coding	Pathogenic
18	23899443	G	T	G23899443T	LAMA3	NM_198129.4(LAMA3):c.5992G>T:p.Glu1998Ter	coding	Pathogenic
18	23901215	C	G	C23901215G	LAMA3	NM_198129.4(LAMA3):c.6093C>G:p.Tyr2031Ter	coding	Pathogenic
18	23901222	A	T	A23901222T	LAMA3	NM_198129.4(LAMA3):c.6100A>T:p.Lys2034Ter	coding	Pathogenic
18	23901321	C	T	C23901321T	LAMA3	NM_198129.4(LAMA3):c.6199C>T:p.Gln2067Ter	coding	Pathogenic
18	23901376	A	G	A23901376G	LAMA3	NM_198129.4(LAMA3):c.6201+53A>G	noncoding	Benign
18	23903242	G	A	G23903242A	LAMA3	NM_198129.4(LAMA3):c.6318+117G>A	noncoding	Benign
18	23903254	A	T	A23903254T	LAMA3	NM_198129.4(LAMA3):c.6318+129A>T	noncoding	Benign
18	23903640	A	C	A23903640C	LAMA3	NM_198129.4(LAMA3):c.6319-293A>C	noncoding	Benign
18	23903932	G	T	G23903932T	LAMA3	NM_198129.4(LAMA3):c.6319-1G>T	noncoding	Pathogenic
18	23904083	G	T	G23904083T	LAMA3	NM_198129.4(LAMA3):c.6469G>T:p.Glu2157Ter	coding	Pathogenic
18	23904280	G	A	G23904280A	LAMA3	NM_198129.4(LAMA3):c.6473+193G>A	noncoding	Benign
18	23907609	G	T	G23907609T	LAMA3	NM_198129.4(LAMA3):c.6778G>T:p.Glu2260Ter	coding	Pathogenic
18	23908142	A	G	A23908142G	LAMA3	NM_198129.4(LAMA3):c.7015+207A>G	noncoding	Benign
18	23912756	C	T	C23912756T	LAMA3	NM_198129.4(LAMA3):c.7204C>T:p.Arg2402Ter	coding	Pathogenic
18	23914254	A	G	A23914254G	LAMA3	NM_198129.4(LAMA3):c.7330-156A>G	noncoding	Benign
18	23915230	T	C	T23915230C	LAMA3	NM_198129.4(LAMA3):c.7645-59T>C	noncoding	Benign
18	23915519	T	C	T23915519C	LAMA3	NM_198129.4(LAMA3):c.7778+97T>C	noncoding	Benign
18	23921365	T	C	T23921365C	LAMA3	NM_198129.4(LAMA3):c.8044-87T>C	noncoding	Benign
18	23921553	T	A	T23921553A	LAMA3	NM_198129.4(LAMA3):c.8145T>A:p.Tyr2715Ter	coding	Pathogenic
18	23927793	T	C	T23927793C	LAMA3	NM_198129.4(LAMA3):c.8178-330T>C	noncoding	Benign
18	23928148	C	T	C23928148T	LAMA3	NM_198129.4(LAMA3):c.8203C>T:p.Arg2735Ter	coding	Pathogenic/Likely_pathogenic
18	23928364	A	G	A23928364G	LAMA3	NM_198129.4(LAMA3):c.8295+124A>G	noncoding	Benign
18	23928631	C	T	C23928631T	LAMA3	NM_198129.4(LAMA3):c.8302C>T:p.Arg2768Ter	coding	Pathogenic
18	23931092	G	A	G23931092A	LAMA3	NM_198129.4(LAMA3):c.8467G>A:p.Gly2823Ser	coding	Benign
18	23931125	G	A	G23931125A	LAMA3	NM_198129.4(LAMA3):c.8500G>A:p.Gly2834Ser	coding	Benign
18	23932160	A	T	A23932160T	LAMA3	NM_198129.4(LAMA3):c.8577A>T:p.Gly2859=	coding	Benign/Likely_benign
18	23932298	G	C	G23932298C	LAMA3	NM_198129.4(LAMA3):c.8708+7G>C	noncoding	Benign
18	23933828	A	T	A23933828T	LAMA3	NM_198129.4(LAMA3):c.8755A>T:p.Lys2919Ter	coding	Pathogenic
18	23939271	C	T	C23939271T	LAMA3	NM_198129.4(LAMA3):c.8911C>T:p.Gln2971Ter	coding	Pathogenic
18	23939672	A	C	A23939672C	LAMA3	NM_198129.4(LAMA3):c.9026+286A>C	noncoding	Benign
18	23943568	C	G	C23943568G	LAMA3	NM_198129.4(LAMA3):c.9027-220C>G	noncoding	Benign
18	23943875	T	G	T23943875G	LAMA3	NM_198129.4(LAMA3):c.9114T>G:p.Tyr3038Ter	coding	Pathogenic/Likely_pathogenic
18	23946123	C	T	C23946123T	LAMA3	NM_198129.4(LAMA3):c.9211-21C>T	noncoding	Benign/Likely_benign
18	23949640	G	A	G23949640A	LAMA3	NM_198129.4(LAMA3):c.9352-125G>A	noncoding	Benign
18	23950134	T	G	T23950134G	LAMA3	NM_198129.4(LAMA3):c.9617T>G:p.Leu3206Ter	coding	Pathogenic
18	23951942	C	T	C23951942T	LAMA3	NM_198129.4(LAMA3):c.9736+165C>T	noncoding	Benign
18	23953109	G	T	G23953109T	LAMA3	NM_198129.4(LAMA3):c.9856G>T:p.Ala3286Ser	coding	Pathogenic
18	23954533	G	A	G23954533A	LAMA3	NM_198129.4(LAMA3):c.9887G>A:p.Trp3296Ter	coding	Pathogenic
18	23954539	C	A	C23954539A	LAMA3	NM_198129.4(LAMA3):c.9893C>A:p.Ser3298Ter	coding	Pathogenic
18	26455711	T	C	T26455711C	KCTD1	NM_001142730.3(KCTD1):c.*32A>G	noncoding	Benign
18	26455824	G	A	G26455824A	KCTD1	NM_001142730.3(KCTD1):c.2517C>T:p.Ser839=	coding	Benign
18	26455981	A	G	A26455981G	KCTD1	NM_001142730.3(KCTD1):c.2440-80T>C	noncoding	Benign
18	26459525	A	C	A26459525C	KCTD1	NM_001142730.3(KCTD1):c.2439+95T>G	noncoding	Benign
18	26460036	C	G	C26460036G	KCTD1	NM_001142730.3(KCTD1):c.2134-111G>C	noncoding	Benign
18	26460059	G	A	G26460059A	KCTD1	NM_001142730.3(KCTD1):c.2134-134C>T	noncoding	Benign
18	26460090	T	C	T26460090C	KCTD1	NM_001142730.3(KCTD1):c.2134-165A>G	noncoding	Benign
18	26545893	T	C	T26545893C	KCTD1	NM_001142730.3(KCTD1):c.1809+835A>G	noncoding	Benign
18	26547349	C	T	C26547349T	KCTD1	NM_001142730.3(KCTD1):c.1188G>A:p.Ser396=	coding	Benign
18	27952116	G	A	G27952116A	CDH2	NM_001792.5(CDH2):c.*37C>T	noncoding	Benign
18	27952340	T	C	T27952340C	CDH2	NM_001792.5(CDH2):c.2534A>G:p.Asn845Ser	coding	Benign
18	27963176	C	A	C27963176A	CDH2	NM_001792.5(CDH2):c.2514+181G>T	noncoding	Benign
18	27963423	G	A	G27963423A	CDH2	NM_001792.5(CDH2):c.2448C>T:p.Ala816=	coding	Benign
18	27963698	T	C	T27963698C	CDH2	NM_001792.5(CDH2):c.2350-177A>G	noncoding	Benign
18	27982867	C	T	C27982867T	CDH2	NM_001792.5(CDH2):c.2349+77G>A	noncoding	Benign
18	27983089	T	C	T27983089C	CDH2	NM_001792.5(CDH2):c.2210-6A>G	noncoding	Benign/Likely_benign
18	27983267	G	A	G27983267A	CDH2	NM_001792.5(CDH2):c.2210-184C>T	noncoding	Benign
18	27984787	G	A	G27984787A	CDH2	NM_001792.5(CDH2):c.2209+213C>T	noncoding	Benign
18	27985118	A	G	A27985118G	CDH2	NM_001792.5(CDH2):c.2091T>C:p.Arg697=	coding	Benign
18	27990159	G	A	G27990159A	CDH2	NM_001792.5(CDH2):c.1536C>T:p.Ala512=	coding	Benign/Likely_benign
18	27990264	G	C	G27990264C	CDH2	NM_001792.5(CDH2):c.1431C>G:p.Pro477=	coding	Benign
18	27990288	T	C	T27990288C	CDH2	NM_001792.5(CDH2):c.1407A>G:p.Pro469=	coding	Benign/Likely_benign
18	27990345	G	A	G27990345A	CDH2	NM_001792.5(CDH2):c.1350C>T:p.Ile450=	coding	Benign/Likely_benign
18	27990565	A	G	A27990565G	CDH2	NM_001792.5(CDH2):c.1345-215T>C	noncoding	Benign
18	27992525	T	C	T27992525C	CDH2	NM_001792.5(CDH2):c.1344+130A>G	noncoding	Benign
18	27992645	G	A	G27992645A	CDH2	NM_001792.5(CDH2):c.1344+10C>T	noncoding	Benign
18	27992873	G	A	G27992873A	CDH2	NM_001792.5(CDH2):c.1159-33C>T	noncoding	Benign
18	27993344	C	T	C27993344T	CDH2	NM_001792.5(CDH2):c.1158+156G>A	noncoding	Benign
18	27993437	T	C	T27993437C	CDH2	NM_001792.5(CDH2):c.1158+63A>G	noncoding	Benign
18	27993545	T	G	T27993545G	CDH2	NM_001792.5(CDH2):c.1113A>C:p.Thr371=	coding	Benign
18	27993554	G	A	G27993554A	CDH2	NM_001792.5(CDH2):c.1104C>T:p.Ala368=	coding	Benign/Likely_benign
18	27993658	G	C	G27993658C	CDH2	NM_001792.5(CDH2):c.1021-21C>G	noncoding	Benign
18	28002988	T	C	T28002988C	CDH2	NM_001792.5(CDH2):c.1020+9A>G	noncoding	Benign
18	28005723	G	A	G28005723A	CDH2	NM_001792.5(CDH2):c.847+126C>T	noncoding	Benign
18	28009723	C	A	C28009723A	CDH2	NM_001792.5(CDH2):c.696G>T:p.Arg232=	coding	Benign/Likely_benign
18	28009725	G	T	G28009725T	CDH2	NM_001792.5(CDH2):c.694C>A:p.Arg232=	coding	Benign
18	28009934	G	A	G28009934A	CDH2	NM_001792.5(CDH2):c.547-62C>T	noncoding	Benign
18	28011848	T	G	T28011848G	CDH2	NM_001792.5(CDH2):c.544A>C:p.Arg182=	coding	Benign/Likely_benign
18	28011873	C	T	C28011873T	CDH2	NM_001792.5(CDH2):c.519G>A:p.Arg173=	coding	Benign/Likely_benign
18	28011999	A	G	A28011999G	CDH2	NM_001792.5(CDH2):c.400-7T>C	noncoding	Benign
18	28013730	C	T	C28013730T	CDH2	NM_001792.5(CDH2):c.352G>A:p.Ala118Thr	coding	Benign
18	28013749	G	C	G28013749C	CDH2	NM_001792.5(CDH2):c.333C>G:p.Thr111=	coding	Benign
18	28013806	G	A	G28013806A	CDH2	NM_001792.5(CDH2):c.276C>T:p.Ser92=	coding	Benign/Likely_benign
18	28013893	G	A	G28013893A	CDH2	NM_001792.5(CDH2):c.189C>T:p.Cys63=	coding	Benign/Likely_benign
18	28013967	A	C	A28013967C	CDH2	NM_001792.5(CDH2):c.173-58T>G	noncoding	Benign
18	28147486	A	T	A28147486T	CDH2	NM_001792.5(CDH2):c.172+187T>A	noncoding	Benign
18	28147606	T	C	T28147606C	CDH2	NM_001792.5(CDH2):c.172+67A>G	noncoding	Benign
18	28147667	T	G	T28147667G	CDH2	NM_001792.5(CDH2):c.172+6A>C	noncoding	Benign
18	28147704	C	T	C28147704T	CDH2	NM_001792.5(CDH2):c.141G>A:p.Lys47=	coding	Benign/Likely_benign
18	28147784	C	T	C28147784T	CDH2	NM_001792.5(CDH2):c.61G>A:p.Ala21Thr	coding	Benign
18	28176801	C	T	C28176801T	CDH2	NM_001792.5(CDH2):c.60+162G>A	noncoding	Benign
18	28176847	T	C	T28176847C	CDH2	NM_001792.5(CDH2):c.60+116A>G	noncoding	Benign
18	28176950	G	C	G28176950C	CDH2	NM_001792.5(CDH2):c.60+13C>G	noncoding	Benign
18	28177084	A	C	A28177084C	CDH2	NM_001792.5(CDH2):c.-62T>G	noncoding	Benign
18	30994031	T	C	T30994031C	DSC3	NM_001941.5(DSC3):c.*144A>G	noncoding	Benign
18	30994506	G	A	G30994506A	DSC3	NM_001941.5(DSC3):c.2494-134C>T	noncoding	Benign
18	30994591	T	G	T30994591G	DSC3	NM_001941.5(DSC3):c.2494-219A>C	noncoding	Benign
18	30996567	A	C	A30996567C	DSC3	NM_001941.5(DSC3):c.2493+224T>G	noncoding	Benign
18	30996827	C	T	C30996827T	DSC3	NM_001941.5(DSC3):c.2457G>A:p.Ser819=	coding	Benign
18	31001476	T	C	T31001476C	DSC3	NM_001941.5(DSC3):c.2235+142A>G	noncoding	Benign
18	31001673	A	C	A31001673C	DSC3	NM_001941.5(DSC3):c.2180T>G:p.Leu727Ter	coding	Pathogenic
18	31003904	T	C	T31003904C	DSC3	NM_001941.5(DSC3):c.2113+238A>G	noncoding	Benign
18	31003972	T	G	T31003972G	DSC3	NM_001941.5(DSC3):c.2113+170A>C	noncoding	Benign
18	31004015	T	C	T31004015C	DSC3	NM_001941.5(DSC3):c.2113+127A>G	noncoding	Benign
18	31004061	C	A	C31004061A	DSC3	NM_001941.5(DSC3):c.2113+81G>T	noncoding	Benign
18	31004590	G	T	G31004590T	DSC3	NM_001941.5(DSC3):c.1889-224C>A	noncoding	Benign
18	31006580	A	G	A31006580G	DSC3	NM_001941.5(DSC3):c.1888+327T>C	noncoding	Benign
18	31006654	T	C	T31006654C	DSC3	NM_001941.5(DSC3):c.1888+253A>G	noncoding	Benign
18	31006998	A	G	A31006998G	DSC3	NM_001941.5(DSC3):c.1797T>C:p.Pro599=	coding	Benign
18	31007214	T	C	T31007214C	DSC3	NM_001941.5(DSC3):c.1664-83A>G	noncoding	Benign
18	31007311	C	G	C31007311G	DSC3	NM_001941.5(DSC3):c.1664-180G>C	noncoding	Benign
18	31008571	C	T	C31008571T	DSC3	NM_001941.5(DSC3):c.1264-46G>A	noncoding	Benign
18	31008770	C	T	C31008770T	DSC3	NM_001941.5(DSC3):c.1264-245G>A	noncoding	Benign
18	31017965	T	C	T31017965C	DSC3	NM_001941.5(DSC3):c.1263+106A>G	noncoding	Benign
18	31019112	C	T	C31019112T	DSC3	NM_001941.5(DSC3):c.943-312G>A	noncoding	Benign
18	31022218	A	G	A31022218G	DSC3	NM_001941.5(DSC3):c.942+118T>C	noncoding	Benign
18	31022318	A	G	A31022318G	DSC3	NM_001941.5(DSC3):c.942+18T>C	noncoding	Benign
18	31022802	C	A	C31022802A	DSC3	NM_001941.5(DSC3):c.776-300G>T	noncoding	Benign
18	31024138	G	A	G31024138A	DSC3	NM_001941.5(DSC3):c.775+211C>T	noncoding	Benign
18	31025526	T	A	T31025526A	DSC3	NM_001941.5(DSC3):c.630+234A>T	noncoding	Benign
18	31025749	A	T	A31025749T	DSC3	NM_001941.5(DSC3):c.630+11T>A	noncoding	Benign
18	31026144	T	C	T31026144C	DSC3	NM_001941.5(DSC3):c.475-229A>G	noncoding	Benign
18	31029238	T	C	T31029238C	DSC3	NM_001941.5(DSC3):c.474+271A>G	noncoding	Benign
18	31029254	C	T	C31029254T	DSC3	NM_001941.5(DSC3):c.474+255G>A	noncoding	Benign
18	31029804	C	T	C31029804T	DSC3	NM_001941.5(DSC3):c.355-176G>A	noncoding	Benign
18	31030911	A	C	A31030911C	DSC3	NM_001941.5(DSC3):c.354+62T>G	noncoding	Benign
18	31030921	A	G	A31030921G	DSC3	NM_001941.5(DSC3):c.354+52T>C	noncoding	Benign
18	31031022	C	T	C31031022T	DSC3	NM_001941.5(DSC3):c.305G>A:p.Arg102Lys	coding	Benign
18	31031095	A	T	A31031095T	DSC3	NM_001941.5(DSC3):c.232T>A:p.Ser78Thr	coding	Benign
18	31032263	G	T	G31032263T	DSC3	NM_001941.5(DSC3):c.83C>A:p.Ala28Asp	coding	Benign
18	31032554	A	G	A31032554G	DSC3	NM_001941.5(DSC3):c.70-278T>C	noncoding	Benign
18	31042558	C	T	C31042558T	DSC3	NM_001941.5(DSC3):c.69+34G>A	noncoding	Benign
18	31043005	G	C	G31043005C	DSC3	Single_allele	noncoding	Benign
18	31043035	G	A	G31043035A	DSC3	Single_allele	noncoding	Benign
18	31067969	T	A	T31067969A	DSC2	NM_024422.6(DSC2):c.*46A>T	noncoding	Benign/Likely_benign
18	31068085	T	C	T31068085C	DSC2	NM_024422.6(DSC2):c.2636A>G:p.Asp879Gly	coding	Benign/Likely_benign
18	31068971	C	A	C31068971A	DSC2	NM_024422.6(DSC2):c.2431G>T:p.Gly811Ter	coding	Pathogenic
18	31069178	G	T	G31069178T	DSC2	NM_024422.6(DSC2):c.2251-27C>A	noncoding	Benign/Likely_benign
18	31069249	A	G	A31069249G	DSC2	NM_024422.6(DSC2):c.2251-98T>C	noncoding	Benign
18	31070757	G	T	G31070757T	DSC2	NM_024422.6(DSC2):c.2219C>A:p.Ser740Ter	coding	Pathogenic
18	31070825	C	G	C31070825G	DSC2	NM_024422.6(DSC2):c.2151G>C:p.Gly717=	coding	Benign/Likely_benign
18	31070870	T	A	T31070870A	DSC2	NM_024422.6(DSC2):c.2126-20A>T	noncoding	Benign/Likely_benign
18	31071587	A	C	A31071587C	DSC2	NM_024422.6(DSC2):c.2125+18T>G	noncoding	Benign
18	31071626	A	G	A31071626G	DSC2	NM_024422.6(DSC2):c.2104T>C:p.Leu702=	coding	Benign/Likely_benign
18	31071646	C	T	C31071646T	DSC2	NM_024422.6(DSC2):c.2084G>A:p.Trp695Ter	coding	Pathogenic
18	31072132	A	G	A31072132G	DSC2	NM_024422.6(DSC2):c.1889-291T>C	noncoding	Benign
18	31074713	G	A	G31074713A	DSC2	NM_024422.6(DSC2):c.1858C>T:p.Gln620Ter	coding	Pathogenic
18	31074794	C	A	C31074794A	DSC2	NM_024422.6(DSC2):c.1777G>T:p.Glu593Ter	coding	Pathogenic
18	31079933	G	T	G31079933T	DSC2	NM_024422.6(DSC2):c.1577C>A:p.Ser526Ter	coding	Pathogenic
18	31079962	C	A	C31079962A	DSC2	NM_024422.6(DSC2):c.1548G>T:p.Gly516=	coding	Benign/Likely_benign
18	31089420	C	T	C31089420T	DSC2	NM_024422.6(DSC2):c.630+19G>A	noncoding	Benign
18	31092107	T	C	T31092107C	DSC2	NM_024422.6(DSC2):c.348A>G:p.Gln116=	coding	Benign/Likely_benign
18	31093663	C	T	C31093663T	DSC2	NM_024422.6(DSC2):c.70-20G>A	noncoding	Benign/Likely_benign
18	31093950	T	A	T31093950A	DSC2	NM_024422.6(DSC2):c.70-307A>T	noncoding	Benign
18	31103416	C	G	C31103416G	DSC2	NC_000018.9:g.28683379C>G	noncoding	Benign
18	31318238	A	G	A31318238G	DSG1	NM_001942.4(DSG1):c.-63A>G	noncoding	Benign
18	31318340	A	T	A31318340T	DSG1	NM_001942.4(DSG1):c.40A>T:p.Ile14Phe	coding	Benign
18	31318604	G	A	G31318604A	DSG1	NM_001942.4(DSG1):c.48+256G>A	noncoding	Benign
18	31326497	T	C	T31326497C	DSG1	NM_001942.4(DSG1):c.49-84T>C	noncoding	Benign
18	31326498	G	A	G31326498A	DSG1	NM_001942.4(DSG1):c.49-83G>A	noncoding	Benign
18	31327133	C	T	C31327133T	DSG1	NM_001942.4(DSG1):c.216+128C>T	noncoding	Benign
18	31327263	T	G	T31327263G	DSG1	NM_001942.4(DSG1):c.216+258T>G	noncoding	Benign
18	31328127	G	A	G31328127A	DSG1	NM_001942.4(DSG1):c.217-62G>A	noncoding	Benign
18	31328579	T	C	T31328579C	DSG1	NM_001942.4(DSG1):c.372+235T>C	noncoding	Benign
18	31329914	C	A	C31329914A	DSG1	NM_001942.4(DSG1):c.395C>A:p.Ser132Ter	coding	Pathogenic
18	31330329	G	C	G31330329C	DSG1	NM_001942.4(DSG1):c.517+293G>C	noncoding	Benign
18	31331485	A	T	A31331485T	DSG1	NM_001942.4(DSG1):c.518-216A>T	noncoding	Benign
18	31331643	C	T	C31331643T	DSG1	NM_001942.4(DSG1):c.518-58C>T	noncoding	Benign
18	31331886	G	A	G31331886A	DSG1	NM_001942.4(DSG1):c.684+19G>A	noncoding	Benign
18	31332079	G	A	G31332079A	DSG1	NM_001942.4(DSG1):c.684+212G>A	noncoding	Benign
18	31333735	T	C	T31333735C	DSG1	NM_001942.4(DSG1):c.819+12T>C	noncoding	Benign
18	31333747	A	G	A31333747G	DSG1	NM_001942.4(DSG1):c.819+24A>G	noncoding	Benign
18	31333848	T	C	T31333848C	DSG1	NM_001942.4(DSG1):c.819+125T>C	noncoding	Benign
18	31334413	G	A	G31334413A	DSG1	NM_001942.4(DSG1):c.1005+211G>A	noncoding	Benign
18	31336040	C	T	C31336040T	DSG1	NM_001942.4(DSG1):c.1006-314C>T	noncoding	Benign
18	31336056	C	A	C31336056A	DSG1	NM_001942.4(DSG1):c.1006-298C>A	noncoding	Benign
18	31336106	C	T	C31336106T	DSG1	NM_001942.4(DSG1):c.1006-248C>T	noncoding	Benign
18	31336158	G	C	G31336158C	DSG1	NM_001942.4(DSG1):c.1006-196G>C	noncoding	Benign
18	31336219	G	A	G31336219A	DSG1	NM_001942.4(DSG1):c.1006-135G>A	noncoding	Benign
18	31336327	G	A	G31336327A	DSG1	NM_001942.4(DSG1):c.1006-27G>A	noncoding	Benign
18	31336686	A	G	A31336686G	DSG1	NM_001942.4(DSG1):c.1265+73A>G	noncoding	Benign
18	31338122	A	G	A31338122G	DSG1	NM_001942.4(DSG1):c.1266-193A>G	noncoding	Benign
18	31338242	C	A	C31338242A	DSG1	NM_001942.4(DSG1):c.1266-73C>A	noncoding	Benign
18	31338665	C	T	C31338665T	DSG1	NM_001942.4(DSG1):c.1405+211C>T	noncoding	Benign
18	31339471	C	T	C31339471T	DSG1	NM_001942.4(DSG1):c.1406-273C>T	noncoding	Benign
18	31339695	C	A	C31339695A	DSG1	NM_001942.4(DSG1):c.1406-49C>A	noncoding	Benign
18	31339740	A	G	A31339740G	DSG1	NM_001942.4(DSG1):c.1406-4A>G	noncoding	Benign
18	31339816	A	C	A31339816C	DSG1	NM_001942.4(DSG1):c.1478A>C:p.Asn493Thr	coding	Benign
18	31339831	C	A	C31339831A	DSG1	NM_001942.4(DSG1):c.1493C>A:p.Thr498Asn	coding	Benign
18	31339921	A	C	A31339921C	DSG1	NM_001942.4(DSG1):c.1583A>C:p.Tyr528Ser	coding	Benign
18	31339948	A	G	A31339948G	DSG1	NM_001942.4(DSG1):c.1610A>G:p.Lys537Arg	coding	Benign
18	31339950	G	A	G31339950A	DSG1	NM_001942.4(DSG1):c.1612G>A:p.Asp538Asn	coding	Benign
18	31339953	T	G	T31339953G	DSG1	NM_001942.4(DSG1):c.1615T>G:p.Leu539Val	coding	Benign
18	31340118	C	T	C31340118T	DSG1	NM_001942.4(DSG1):c.1687+93C>T	noncoding	Benign
18	31340313	G	A	G31340313A	DSG1	NM_001942.4(DSG1):c.1687+288G>A	noncoding	Benign
18	31344020	A	C	A31344020C	DSG1	NM_001942.4(DSG1):c.1891+25A>C	noncoding	Benign
18	31344021	T	A	T31344021A	DSG1	NM_001942.4(DSG1):c.1891+26T>A	noncoding	Benign
18	31344238	A	T	A31344238T	DSG1	NM_001942.4(DSG1):c.1891+243A>T	noncoding	Benign
18	31346157	G	A	G31346157A	DSG1	NM_001942.4(DSG1):c.2059G>A:p.Gly687Arg	coding	Benign
18	31346209	T	C	T31346209C	DSG1	NM_001942.4(DSG1):c.2100+11T>C	noncoding	Benign
18	31354111	G	A	G31354111A	DSG1	NM_001942.4(DSG1):c.2101-186G>A	noncoding	Benign
18	31354120	C	T	C31354120T	DSG1	NM_001942.4(DSG1):c.2101-177C>T	noncoding	Benign
18	31354124	A	G	A31354124G	DSG1	NM_001942.4(DSG1):c.2101-173A>G	noncoding	Benign
18	31354658	T	A	T31354658A	DSG1	NM_001942.4(DSG1):c.2462T>A:p.Leu821Gln	coding	Benign
18	31354677	C	T	C31354677T	DSG1	NM_001942.4(DSG1):c.2481C>T:p.Leu827=	coding	Benign
18	31354681	C	T	C31354681T	DSG1	NM_001942.4(DSG1):c.2485C>T:p.Pro829Ser	coding	Benign
18	31354752	C	T	C31354752T	DSG1	NM_001942.4(DSG1):c.2556C>T:p.His852=	coding	Benign
18	31355010	T	C	T31355010C	DSG1	NM_001942.4(DSG1):c.2814T>C:p.Ser938=	coding	Benign
18	31355160	C	T	C31355160T	DSG1	NM_001942.4(DSG1):c.2964C>T:p.Ser988=	coding	Benign
18	31355244	G	A	G31355244A	DSG1	NM_001942.4(DSG1):c.3048G>A:p.Arg1016=	coding	Benign
18	31355412	C	T	C31355412T	DSG1	NM_001942.4(DSG1):c.*66C>T	noncoding	Benign
18	31377109	A	T	A31377109T	DSG4	NM_177986.5(DSG4):c.48+150A>T	noncoding	Benign
18	31384897	T	C	T31384897C	DSG4	NM_177986.5(DSG4):c.49-239T>C	noncoding	Benign
18	31386555	G	C	G31386555C	DSG4	NM_177986.5(DSG4):c.85-133G>C	noncoding	Benign
18	31389045	C	T	C31389045T	DSG4	NM_177986.5(DSG4):c.517+27C>T	noncoding	Benign
18	31389055	T	G	T31389055G	DSG4	NM_177986.5(DSG4):c.517+37T>G	noncoding	Benign
18	31389081	T	C	T31389081C	DSG4	NM_177986.5(DSG4):c.517+63T>C	noncoding	Benign
18	31390562	G	A	G31390562A	DSG4	NM_177986.5(DSG4):c.518-94G>A	noncoding	Benign
18	31391019	G	A	G31391019A	DSG4	NM_177986.5(DSG4):c.685-59G>A	noncoding	Benign
18	31391521	G	A	G31391521A	DSG4	NM_177986.5(DSG4):c.819+309G>A	noncoding	Benign
18	31392400	A	C	A31392400C	DSG4	NM_177986.5(DSG4):c.1005+60A>C	noncoding	Benign
18	31398963	A	C	A31398963C	DSG4	NM_177986.5(DSG4):c.1006-309A>C	noncoding	Benign
18	31400649	C	A	C31400649A	DSG4	NM_177986.5(DSG4):c.1278-232C>A	noncoding	Benign
18	31406172	T	C	T31406172C	DSG4	NM_177986.5(DSG4):c.1732T>C:p.Leu578=	coding	Benign
18	31409202	G	A	G31409202A	DSG4	NM_177986.5(DSG4):c.1934-250G>A	noncoding	Benign
18	31409253	A	G	A31409253G	DSG4	NM_177986.5(DSG4):c.1934-199A>G	noncoding	Benign
18	31409269	C	T	C31409269T	DSG4	NM_177986.5(DSG4):c.1934-183C>T	noncoding	Benign
18	31409711	C	T	C31409711T	DSG4	NM_177986.5(DSG4):c.2074-34C>T	noncoding	Benign
18	31411098	T	G	T31411098G	DSG4	NM_177986.5(DSG4):c.2138-133T>G	noncoding	Benign
18	31411542	T	C	T31411542C	DSG4	NM_177986.5(DSG4):c.2355+94T>C	noncoding	Benign
18	31413666	A	G	A31413666G	DSG4	NM_177986.5(DSG4):c.*71A>G	noncoding	Benign/Likely_benign
18	31413721	G	A	G31413721A	DSG4	NM_177986.5(DSG4):c.*126G>A	noncoding	Benign/Likely_benign
18	31447438	C	T	C31447438T	DSG3	Single_allele	noncoding	Benign
18	31447782	C	T	C31447782T	DSG3	NM_001944.3(DSG3):c.-96C>T	noncoding	Benign
18	31447794	C	T	C31447794T	DSG3	NM_001944.3(DSG3):c.-84C>T	noncoding	Benign
18	31447808	C	T	C31447808T	DSG3	NM_001944.3(DSG3):c.-70C>T	noncoding	Benign
18	31448221	C	G	C31448221G	DSG3	NM_001944.3(DSG3):c.48+296C>G	noncoding	Benign
18	31456353	A	G	A31456353G	DSG3	NM_001944.3(DSG3):c.49-87A>G	noncoding	Benign
18	31456879	C	G	C31456879G	DSG3	NM_001944.3(DSG3):c.85-114C>G	noncoding	Benign
18	31457168	T	C	T31457168C	DSG3	NM_001944.3(DSG3):c.216+44T>C	noncoding	Benign
18	31457453	A	T	A31457453T	DSG3	NM_001944.3(DSG3):c.216+329A>T	noncoding	Benign
18	31458160	A	C	A31458160C	DSG3	NM_001944.3(DSG3):c.217-285A>C	noncoding	Benign
18	31458300	G	A	G31458300A	DSG3	NM_001944.3(DSG3):c.217-145G>A	noncoding	Benign
18	31458353	T	C	T31458353C	DSG3	NM_001944.3(DSG3):c.217-92T>C	noncoding	Benign
18	31458573	C	T	C31458573T	DSG3	NM_001944.3(DSG3):c.345C>T:p.Val115=	coding	Benign
18	31458803	G	A	G31458803A	DSG3	NM_001944.3(DSG3):c.372+203G>A	noncoding	Benign
18	31459320	G	A	G31459320A	DSG3	NM_001944.3(DSG3):c.517+143G>A	noncoding	Benign
18	31459798	T	C	T31459798C	DSG3	NM_001944.3(DSG3):c.518-47T>C	noncoding	Benign
18	31460793	T	A	T31460793A	DSG3	NM_001944.3(DSG3):c.685-40T>A	noncoding	Benign
18	31461272	C	T	C31461272T	DSG3	NM_001944.3(DSG3):c.859C>T:p.Arg287Ter	coding	Pathogenic
18	31461447	T	A	T31461447A	DSG3	NM_001944.3(DSG3):c.999+35T>A	noncoding	Benign
18	31465294	G	A	G31465294A	DSG3	NM_001944.3(DSG3):c.1272-24G>A	noncoding	Benign
18	31466182	T	C	T31466182C	DSG3	NM_001944.3(DSG3):c.1412-348T>C	noncoding	Benign
18	31466229	C	T	C31466229T	DSG3	NM_001944.3(DSG3):c.1412-301C>T	noncoding	Benign
18	31466435	G	A	G31466435A	DSG3	NM_001944.3(DSG3):c.1412-95G>A	noncoding	Benign
18	31466438	T	C	T31466438C	DSG3	NM_001944.3(DSG3):c.1412-92T>C	noncoding	Benign
18	31466467	T	G	T31466467G	DSG3	NM_001944.3(DSG3):c.1412-63T>G	noncoding	Benign
18	31466643	G	A	G31466643A	DSG3	NM_001944.3(DSG3):c.1525G>A:p.Val509Met	coding	Benign
18	31467004	T	C	T31467004C	DSG3	NM_001944.3(DSG3):c.1636+250T>C	noncoding	Benign
18	31469055	C	T	C31469055T	DSG3	NM_001944.3(DSG3):c.1637-34C>T	noncoding	Benign
18	31469409	A	G	A31469409G	DSG3	NM_001944.3(DSG3):c.1897+60A>G	noncoding	Benign
18	31472920	G	C	G31472920C	DSG3	NM_001944.3(DSG3):c.2101+132G>C	noncoding	Benign
18	31473041	A	C	A31473041C	DSG3	NM_001944.3(DSG3):c.2101+253A>C	noncoding	Benign
18	31473913	T	C	T31473913C	DSG3	NM_001944.3(DSG3):c.2102-208T>C	noncoding	Benign
18	31475505	T	C	T31475505C	DSG3	NM_001944.3(DSG3):c.2386-141T>C	noncoding	Benign
18	31475672	C	T	C31475672T	DSG3	NM_001944.3(DSG3):c.2412C>T:p.Asp804=	coding	Benign
18	31475994	A	G	A31475994G	DSG3	NM_001944.3(DSG3):c.2734A>G:p.Thr912Ala	coding	Benign
18	31476502	A	G	A31476502G	DSG3	NM_001944.3(DSG3):c.*242A>G	noncoding	Benign
18	31498158	G	C	G31498158C	DSG2	NM_001943.4(DSG2):c.-94G>C	noncoding	Benign/Likely_benign
18	31498215	G	C	G31498215C	DSG2	NM_001943.5(DSG2):c.-37G>C	noncoding	Benign
18	31498312	G	C	G31498312C	DSG2	NM_001943.5(DSG2):c.45+16G>C	noncoding	Benign
18	31498313	G	A	G31498313A	DSG2	NM_001943.5(DSG2):c.45+17G>A	noncoding	Benign
18	31518291	A	G	A31518291G	DSG2	NM_001943.5(DSG2):c.81+17A>G	noncoding	Benign/Likely_benign
18	31519857	C	T	C31519857T	DSG2	NM_001943.5(DSG2):c.136C>T:p.Arg46Trp	coding	Pathogenic
18	31520738	C	G	C31520738G	DSG2	NM_001943.5(DSG2):c.217-65C>G	noncoding	Benign
18	31520802	G	T	G31520802T	DSG2	NM_001943.5(DSG2):c.217-1G>T	noncoding	Pathogenic
18	31520883	T	C	T31520883C	DSG2	NM_001943.5(DSG2):c.297T>C:p.Phe99=	coding	Benign/Likely_benign
18	31520966	T	G	T31520966G	DSG2	NM_001943.5(DSG2):c.378+2T>G	noncoding	Pathogenic
18	31522177	T	A	T31522177A	DSG2	NM_001943.5(DSG2):c.618T>A:p.Ala206=	coding	Benign/Likely_benign
18	31522244	A	T	A31522244T	DSG2	NM_001943.5(DSG2):c.685A>T:p.Arg229Ter	coding	Pathogenic
18	31522250	G	A	G31522250A	DSG2	NM_001943.5(DSG2):c.690+1G>A	coding	Pathogenic
18	31522250	G	T	G31522250T	DSG2	NM_001943.5(DSG2):c.690+1G>T	coding	Pathogenic
18	31524540	T	A	T31524540A	DSG2	NM_001943.5(DSG2):c.783T>A:p.Arg261=	coding	Benign/Likely_benign
18	31524791	G	A	G31524791A	DSG2	NM_001943.5(DSG2):c.917G>A:p.Trp306Ter	coding	Pathogenic
18	31530999	G	T	G31530999T	DSG2	NM_001943.5(DSG2):c.1027G>T:p.Glu343Ter	coding	Pathogenic/Likely_pathogenic
18	31531269	C	T	C31531269T	DSG2	NM_001943.5(DSG2):c.1280+17C>T	noncoding	Benign
18	31531270	G	C	G31531270C	DSG2	NM_001943.5(DSG2):c.1280+18G>C	noncoding	Benign/Likely_benign
18	31536212	A	G	A31536212G	DSG2	NM_001943.5(DSG2):c.1434A>G:p.Arg478=	coding	Benign/Likely_benign
18	31538743	C	T	C31538743T	DSG2	NM_001943.5(DSG2):c.1652-8C>T	noncoding	Benign/Likely_benign
18	31538771	C	T	C31538771T	DSG2	NM_001943.5(DSG2):c.1672C>T:p.Gln558Ter	coding	Pathogenic
18	31538804	C	T	C31538804T	DSG2	NM_001943.5(DSG2):c.1705C>T:p.Gln569Ter	coding	Pathogenic
18	31542304	T	C	T31542304C	DSG2	NM_001943.5(DSG2):c.2002-216T>C	coding	Benign
18	31542385	A	G	A31542385G	DSG2	NM_001943.5(DSG2):c.2002-135A>G	noncoding	Benign
18	31546182	T	C	T31546182C	DSG2	NM_001943.5(DSG2):c.2796T>C:p.Asn932=	coding	Benign/Likely_benign
18	31546413	A	G	A31546413G	DSG2	NM_001943.5(DSG2):c.3027A>G:p.Gln1009=	coding	Benign/Likely_benign
18	31546443	A	G	A31546443G	DSG2	NM_001943.5(DSG2):c.3057A>G:p.Arg1019=	coding	Benign
18	31546596	G	T	G31546596T	DSG2	NM_001943.5(DSG2):c.3210G>T:p.Thr1070=	coding	Benign/Likely_benign
18	31546652	G	A	G31546652A	DSG2	NM_001943.5(DSG2):c.3266G>A:p.Gly1089Asp	coding	Benign/Likely_benign
18	31591926	C	T	C31591926T	TTR	NM_000371.4(TTR):c.24C>T:p.Leu8=	coding	Benign/Likely_benign
18	31591942	C	T	C31591942T	TTR	NM_000371.4(TTR):c.40C>T:p.Leu14=	coding	Benign/Likely_benign
18	31591981	T	C	T31591981C	TTR	NM_000371.4(TTR):c.69+10T>C	noncoding	Benign/Likely_benign
18	31592920	C	G	C31592920G	TTR	NM_000371.4(TTR):c.94C>G:p.Leu32Val	coding	Pathogenic
18	31592938	G	A	G31592938A	TTR	NM_000371.4(TTR):c.112G>A:p.Asp38Asn	coding	Pathogenic/Likely_pathogenic
18	31592940	T	A	T31592940A	TTR	NM_000371.4(TTR):c.114T>A:p.Asp38Glu	coding	Pathogenic
18	31592954	G	A	G31592954A	TTR	NM_000371.4(TTR):c.128G>A:p.Ser43Asn	coding	Pathogenic/Likely_pathogenic
18	31593008	G	T	G31593008T	TTR	NM_000371.4(TTR):c.182G>T:p.Trp61Leu	coding	Pathogenic
18	31593019	G	A	G31593019A	TTR	NM_000371.4(TTR):c.193G>A:p.Ala65Thr	coding	Pathogenic/Likely_pathogenic
18	31595044	T	A	T31595044A	TTR	NM_000371.4(TTR):c.201-76T>A	noncoding	Benign
18	31595125	C	G	C31595125G	TTR	NM_000371.4(TTR):c.206C>G:p.Thr69Ser	coding	Pathogenic
18	31595125	C	T	C31595125T	TTR	NM_000371.4(TTR):c.206C>T:p.Thr69Ile	coding	Pathogenic
18	31595133	T	C	T31595133C	TTR	NM_000371.4(TTR):c.214T>C:p.Ser72Pro	coding	Pathogenic
18	31595140	A	G	A31595140G	TTR	NM_000371.4(TTR):c.221A>G:p.Glu74Gly	coding	Pathogenic/Likely_pathogenic
18	31595142	C	A	C31595142A	TTR	NM_000371.4(TTR):c.223C>A:p.Leu75Met	coding	Pathogenic
18	31595158	C	T	C31595158T	TTR	NM_000371.4(TTR):c.239C>T:p.Thr80Ile	coding	Pathogenic/Likely_pathogenic
18	31595163	G	A	G31595163A	TTR	NM_000371.4(TTR):c.244G>A:p.Glu82Lys	coding	Pathogenic/Likely_pathogenic
18	31595212	A	T	A31595212T	TTR	NM_000371.4(TTR):c.293A>T:p.Tyr98Phe	coding	Pathogenic/Likely_pathogenic
18	31598612	T	G	T31598612G	TTR	NM_000371.4(TTR):c.381T>G:p.Ile127Met	coding	Pathogenic/Likely_pathogenic
18	31598647	C	T	C31598647T	TTR	NM_000371.4(TTR):c.416C>T:p.Thr139Met	coding	Benign/Likely_benign
18	31598775	A	G	A31598775G	TTR	NM_000371.4(TTR):c.*100A>G	noncoding	Benign
18	31598793	G	A	G31598793A	TTR	NM_000371.4(TTR):c.*118G>A	noncoding	Benign
18	32018884	C	T	C32018884T	RNF125	NM_017831.4(RNF125):c.21C>T:p.Thr7=	coding	Benign
18	32037292	T	G	T32037292G	RNF125	NM_017831.4(RNF125):c.318+23T>G	noncoding	Benign
18	32045722	G	A	G32045722A	RNF125	NM_017831.4(RNF125):c.494G>A:p.Arg165Gln	coding	Benign
18	33578269	C	A	C33578269A	ASXL3	NM_030632.3(ASXL3):c.-363C>A	noncoding	Benign
18	33578991	C	T	C33578991T	ASXL3	NM_030632.3(ASXL3):c.54+306C>T	noncoding	Benign
18	33607554	T	C	T33607554C	ASXL3	NM_030632.3(ASXL3):c.55-40T>C	noncoding	Benign
18	33607742	G	A	G33607742A	ASXL3	NM_030632.3(ASXL3):c.137+66G>A	noncoding	Benign
18	33607946	C	A	C33607946A	ASXL3	NM_030632.3(ASXL3):c.137+270C>A	noncoding	Benign
18	33644951	G	A	G33644951A	ASXL3	NM_030632.3(ASXL3):c.195G>A:p.Gly65=	coding	Benign
18	33645066	G	T	G33645066T	ASXL3	NM_030632.3(ASXL3):c.246+64G>T	noncoding	Benign
18	33646036	A	G	A33646036G	ASXL3	NM_030632.3(ASXL3):c.247-209A>G	noncoding	Benign
18	33646094	T	C	T33646094C	ASXL3	NM_030632.3(ASXL3):c.247-151T>C	noncoding	Benign
18	33646349	T	C	T33646349C	ASXL3	NM_030632.3(ASXL3):c.351T>C:p.Asn117=	coding	Benign
18	33646610	C	T	C33646610T	ASXL3	NM_030632.3(ASXL3):c.355+257C>T	noncoding	Benign
18	33646635	G	A	G33646635A	ASXL3	NM_030632.3(ASXL3):c.355+282G>A	noncoding	Benign
18	33661533	C	G	C33661533G	ASXL3	NM_030632.3(ASXL3):c.356-83C>G	noncoding	Benign
18	33661804	G	C	G33661804C	ASXL3	NM_030632.3(ASXL3):c.477+67G>C	noncoding	Benign
18	33661991	C	T	C33661991T	ASXL3	NM_030632.3(ASXL3):c.477+254C>T	noncoding	Benign
18	33670709	T	C	T33670709C	ASXL3	NM_030632.3(ASXL3):c.514T>C:p.Ser172Pro	coding	Benign/Likely_benign
18	33670964	C	T	C33670964T	ASXL3	NM_030632.3(ASXL3):c.595+174C>T	noncoding	Benign
18	33671124	G	A	G33671124A	ASXL3	NM_030632.3(ASXL3):c.595+334G>A	noncoding	Benign
18	33671772	A	T	A33671772T	ASXL3	NM_030632.3(ASXL3):c.621A>T:p.Ala207=	coding	Benign
18	33671845	C	T	C33671845T	ASXL3	NM_030632.3(ASXL3):c.694C>T:p.Arg232Ter	coding	Pathogenic
18	33672023	C	T	C33672023T	ASXL3	NM_030632.3(ASXL3):c.715+157C>T	noncoding	Benign
18	33672165	G	A	G33672165A	ASXL3	NM_030632.3(ASXL3):c.715+299G>A	noncoding	Benign
18	33683356	G	A	G33683356A	ASXL3	NM_030632.3(ASXL3):c.716-49G>A	noncoding	Benign
18	33683365	T	G	T33683365G	ASXL3	NM_030632.3(ASXL3):c.716-40T>G	noncoding	Benign
18	33683367	C	T	C33683367T	ASXL3	NM_030632.3(ASXL3):c.716-38C>T	noncoding	Benign
18	33683639	A	G	A33683639G	ASXL3	NM_030632.3(ASXL3):c.879+71A>G	noncoding	Benign
18	33683837	A	G	A33683837G	ASXL3	NM_030632.3(ASXL3):c.879+269A>G	noncoding	Benign
18	33731952	C	T	C33731952T	ASXL3	NM_030632.3(ASXL3):c.880-16C>T	noncoding	Benign
18	33732142	T	C	T33732142C	ASXL3	NM_030632.3(ASXL3):c.976+78T>C	noncoding	Benign
18	33732184	A	G	A33732184G	ASXL3	NM_030632.3(ASXL3):c.976+120A>G	noncoding	Benign
18	33734000	C	T	C33734000T	ASXL3	NM_030632.3(ASXL3):c.977-310C>T	noncoding	Benign
18	33734001	G	T	G33734001T	ASXL3	NM_030632.3(ASXL3):c.977-309G>T	noncoding	Benign
18	33734232	A	G	A33734232G	ASXL3	NM_030632.3(ASXL3):c.977-78A>G	noncoding	Benign
18	33734293	T	G	T33734293G	ASXL3	NM_030632.3(ASXL3):c.977-17T>G	noncoding	Benign
18	33734323	A	G	A33734323G	ASXL3	NM_030632.3(ASXL3):c.990A>G:p.Pro330=	coding	Benign
18	33734389	A	G	A33734389G	ASXL3	NM_030632.3(ASXL3):c.1056A>G:p.Lys352=	coding	Benign
18	33734425	A	T	A33734425T	ASXL3	NM_030632.3(ASXL3):c.1082+10A>T	noncoding	Benign
18	33734471	C	T	C33734471T	ASXL3	NM_030632.3(ASXL3):c.1082+56C>T	noncoding	Benign
18	33734757	T	C	T33734757C	ASXL3	NM_030632.3(ASXL3):c.1082+342T>C	noncoding	Benign
18	33738218	T	C	T33738218C	ASXL3	NM_030632.3(ASXL3):c.1083-269T>C	noncoding	Benign
18	33738290	C	T	C33738290T	ASXL3	NM_030632.3(ASXL3):c.1083-197C>T	noncoding	Benign
18	33738292	G	C	G33738292C	ASXL3	NM_030632.3(ASXL3):c.1083-195G>C	noncoding	Benign
18	33738372	T	C	T33738372C	ASXL3	NM_030632.3(ASXL3):c.1083-115T>C	noncoding	Benign
18	33738412	A	G	A33738412G	ASXL3	NM_030632.3(ASXL3):c.1083-75A>G	noncoding	Benign
18	33738649	G	T	G33738649T	ASXL3	NM_030632.3(ASXL3):c.1245G>T:p.Glu415Asp	coding	Benign
18	33738673	C	A	C33738673A	ASXL3	NM_030632.3(ASXL3):c.1269C>A:p.Cys423Ter	coding	Pathogenic
18	33738869	G	T	G33738869T	ASXL3	NM_030632.3(ASXL3):c.1465G>T:p.Glu489Ter	coding	Pathogenic
18	33739058	C	T	C33739058T	ASXL3	NM_030632.3(ASXL3):c.1654C>T:p.His552Tyr	coding	Benign/Likely_benign
18	33739205	C	T	C33739205T	ASXL3	NM_030632.3(ASXL3):c.1801C>T:p.Gln601Ter	coding	Pathogenic
18	33739294	G	A	G33739294A	ASXL3	NM_030632.3(ASXL3):c.1890G>A:p.Gly630=	coding	Benign/Likely_benign
18	33739399	A	G	A33739399G	ASXL3	NM_030632.3(ASXL3):c.1995A>G:p.Arg665=	coding	Benign
18	33739469	A	C	A33739469C	ASXL3	NM_030632.3(ASXL3):c.2065A>C:p.Ile689Leu	coding	Benign
18	33739597	G	A	G33739597A	ASXL3	NM_030632.3(ASXL3):c.2193G>A:p.Val731=	coding	Benign
18	33739628	T	G	T33739628G	ASXL3	NM_030632.3(ASXL3):c.2224T>G:p.Phe742Val	coding	Benign
18	33739698	C	G	C33739698G	ASXL3	NM_030632.3(ASXL3):c.2294C>G:p.Ala765Gly	coding	Benign
18	33739711	A	G	A33739711G	ASXL3	NM_030632.3(ASXL3):c.2307A>G:p.Arg769=	coding	Benign
18	33739779	C	T	C33739779T	ASXL3	NM_030632.3(ASXL3):c.2375C>T:p.Pro792Leu	coding	Benign
18	33739875	C	T	C33739875T	ASXL3	NM_030632.3(ASXL3):c.2471C>T:p.Pro824Leu	coding	Pathogenic
18	33739876	G	A	G33739876A	ASXL3	NM_030632.3(ASXL3):c.2472G>A:p.Pro824=	coding	Benign
18	33739941	A	G	A33739941G	ASXL3	NM_030632.3(ASXL3):c.2537A>G:p.Lys846Arg	coding	Benign
18	33739983	T	A	T33739983A	ASXL3	NM_030632.3(ASXL3):c.2579T>A:p.Met860Lys	coding	Benign
18	33739987	A	T	A33739987T	ASXL3	NM_030632.3(ASXL3):c.2583A>T:p.Ile861=	coding	Benign
18	33740135	G	A	G33740135A	ASXL3	NM_030632.3(ASXL3):c.2731G>A:p.Val911Met	coding	Benign
18	33740265	A	G	A33740265G	ASXL3	NM_030632.3(ASXL3):c.2861A>G:p.Asn954Ser	coding	Benign
18	33740369	C	G	C33740369G	ASXL3	NM_030632.3(ASXL3):c.2965C>G:p.Arg989Gly	coding	Benign
18	33740405	C	T	C33740405T	ASXL3	NM_030632.3(ASXL3):c.3001C>T:p.Gln1001Ter	coding	Pathogenic/Likely_pathogenic
18	33740752	A	G	A33740752G	ASXL3	NM_030632.3(ASXL3):c.3039+309A>G	noncoding	Benign
18	33742576	T	C	T33742576C	ASXL3	NM_030632.3(ASXL3):c.3040-312T>C	noncoding	Benign
18	33742972	T	C	T33742972C	ASXL3	NM_030632.3(ASXL3):c.3124T>C:p.Ser1042Pro	coding	Benign
18	33743010	C	T	C33743010T	ASXL3	NM_030632.3(ASXL3):c.3162C>T:p.Leu1054=	coding	Benign/Likely_benign
18	33743172	T	G	T33743172G	ASXL3	NM_030632.3(ASXL3):c.3324T>G:p.Ala1108=	coding	Benign
18	33743237	C	G	C33743237G	ASXL3	NM_030632.3(ASXL3):c.3389C>G:p.Pro1130Arg	coding	Benign/Likely_benign
18	33743239	C	T	C33743239T	ASXL3	NM_030632.3(ASXL3):c.3391C>T:p.Pro1131Ser	coding	Benign
18	33743313	G	A	G33743313A	ASXL3	NM_030632.3(ASXL3):c.3465G>A:p.Ser1155=	coding	Benign
18	33743403	T	C	T33743403C	ASXL3	NM_030632.3(ASXL3):c.3555T>C:p.Ser1185=	coding	Benign/Likely_benign
18	33743477	C	A	C33743477A	ASXL3	NM_030632.3(ASXL3):c.3629C>A:p.Ser1210Ter	coding	Pathogenic
18	33743530	C	T	C33743530T	ASXL3	NM_030632.3(ASXL3):c.3682C>T:p.Pro1228Ser	coding	Benign
18	33743701	A	C	A33743701C	ASXL3	NM_030632.3(ASXL3):c.3853A>C:p.Ile1285Leu	coding	Benign
18	33743740	A	G	A33743740G	ASXL3	NM_030632.3(ASXL3):c.3892A>G:p.Lys1298Glu	coding	Benign
18	33743777	A	C	A33743777C	ASXL3	NM_030632.3(ASXL3):c.3929A>C:p.Glu1310Ala	coding	Benign
18	33743884	A	G	A33743884G	ASXL3	NM_030632.3(ASXL3):c.4036A>G:p.Ile1346Val	coding	Benign
18	33744087	C	T	C33744087T	ASXL3	NM_030632.3(ASXL3):c.4239C>T:p.Val1413=	coding	Benign
18	33744091	A	G	A33744091G	ASXL3	NM_030632.3(ASXL3):c.4243A>G:p.Met1415Val	coding	Benign
18	33744092	T	G	T33744092G	ASXL3	NM_030632.3(ASXL3):c.4244T>G:p.Met1415Arg	coding	Benign
18	33744318	C	T	C33744318T	ASXL3	NM_030632.3(ASXL3):c.4470C>T:p.Ser1490=	coding	Benign
18	33744379	G	A	G33744379A	ASXL3	NM_030632.3(ASXL3):c.4531G>A:p.Val1511Ile	coding	Benign
18	33744393	G	A	G33744393A	ASXL3	NM_030632.3(ASXL3):c.4545G>A:p.Ala1515=	coding	Benign
18	33744438	C	T	C33744438T	ASXL3	NM_030632.3(ASXL3):c.4590C>T:p.Asn1530=	coding	Benign
18	33744526	C	T	C33744526T	ASXL3	NM_030632.3(ASXL3):c.4678C>T:p.Arg1560Ter	coding	Pathogenic
18	33744564	G	A	G33744564A	ASXL3	NM_030632.3(ASXL3):c.4716G>A:p.Pro1572=	coding	Benign
18	33744597	A	G	A33744597G	ASXL3	NM_030632.3(ASXL3):c.4749A>G:p.Ala1583=	coding	Benign
18	33744600	T	C	T33744600C	ASXL3	NM_030632.3(ASXL3):c.4752T>C:p.Arg1584=	coding	Benign
18	33744665	G	A	G33744665A	ASXL3	NM_030632.3(ASXL3):c.4817G>A:p.Arg1606Gln	coding	Benign
18	33744674	G	A	G33744674A	ASXL3	NM_030632.3(ASXL3):c.4826G>A:p.Trp1609Ter	coding	Pathogenic
18	33744747	T	A	T33744747A	ASXL3	NM_030632.3(ASXL3):c.4899T>A:p.Tyr1633Ter	coding	Pathogenic
18	33744802	G	A	G33744802A	ASXL3	NM_030632.3(ASXL3):c.4954G>A:p.Val1652Met	coding	Benign
18	33744849	T	G	T33744849G	ASXL3	NM_030632.3(ASXL3):c.5001T>G:p.Pro1667=	coding	Benign
18	33744970	A	G	A33744970G	ASXL3	NM_030632.3(ASXL3):c.5122A>G:p.Met1708Val	coding	Benign
18	33745315	C	T	C33745315T	ASXL3	NM_030632.3(ASXL3):c.5467C>T:p.Arg1823Ter	coding	Pathogenic
18	33745354	G	C	G33745354C	ASXL3	NM_030632.3(ASXL3):c.5506G>C:p.Gly1836Arg	coding	Benign
18	33745762	T	C	T33745762C	ASXL3	NM_030632.3(ASXL3):c.5914T>C:p.Leu1972=	coding	Benign
18	33745833	C	T	C33745833T	ASXL3	NM_030632.3(ASXL3):c.5985C>T:p.Pro1995=	coding	Benign
18	33745839	A	G	A33745839G	ASXL3	NM_030632.3(ASXL3):c.5991A>G:p.Lys1997=	coding	Benign/Likely_benign
18	33745920	T	C	T33745920C	ASXL3	NM_030632.3(ASXL3):c.6072T>C:p.Pro2024=	coding	Benign/Likely_benign
18	33746194	G	A	G33746194A	ASXL3	NM_030632.3(ASXL3):c.6346G>A:p.Ala2116Thr	coding	Benign
18	33746207	C	T	C33746207T	ASXL3	NM_030632.3(ASXL3):c.6359C>T:p.Ala2120Val	coding	Benign
18	33746452	G	A	G33746452A	ASXL3	NM_030632.3(ASXL3):c.6604G>A:p.Asp2202Asn	coding	Benign
18	34493576	G	A	G34493576A	DTNA	NM_032975.4(DTNA):c.-127+62G>A	noncoding	Benign
18	34593534	C	T	C34593534T	DTNA	NM_032975.4(DTNA):c.-126-85934C>T	noncoding	Benign
18	34679369	A	T	A34679369T	DTNA	NM_032975.4(DTNA):c.-126-99A>T	noncoding	Benign
18	34710457	T	C	T34710457C	DTNA	NM_001386795.1(DTNA):c.-2+12T>C	noncoding	Benign
18	34755689	A	T	A34755689T	DTNA	NM_001386795.1(DTNA):c.-1-287A>T	noncoding	Benign
18	34765985	G	A	G34765985A	DTNA	NM_001386795.1(DTNA):c.92G>A:p.Arg31Gln	coding	Benign
18	34806069	A	G	A34806069G	DTNA	NM_001386795.1(DTNA):c.363-150A>G	noncoding	Benign
18	34818804	C	A	C34818804A	DTNA	NM_001386795.1(DTNA):c.876+474C>A	noncoding	Benign
18	34819077	A	T	A34819077T	DTNA	NM_001386795.1(DTNA):c.876+747A>T	noncoding	Benign
18	34824984	G	A	G34824984A	DTNA	NM_001386795.1(DTNA):c.1002-2609G>A	noncoding	Benign
18	34825263	A	G	A34825263G	DTNA	NM_001386795.1(DTNA):c.1002-2330A>G	noncoding	Benign
18	34882084	A	C	A34882084C	DTNA	NM_001386795.1(DTNA):c.2178A>C:p.Ala726=	coding	Benign/Likely_benign
18	34882216	G	A	G34882216A	DTNA	NM_001386795.1(DTNA):c.2295+15G>A	noncoding	Benign/Likely_benign
18	34887968	G	A	G34887968A	DTNA	NM_001386795.1(DTNA):c.*234G>A	coding	Benign
18	34890006	C	T	C34890006T	DTNA	NM_001386795.1(DTNA):c.*2272C>T	coding	Benign
18	34890495	C	T	C34890495T	DTNA	NM_001386795.1(DTNA):c.*2761C>T	noncoding	Benign
18	36170083	C	T	C36170083T	ELP2	NM_018255.4(ELP2):c.2097C>T:p.Cys699=	coding	Benign
18	36187516	G	A	G36187516A	MOCOS	NM_017947.4(MOCOS):c.-24G>A	noncoding	Benign
18	36187535	G	A	G36187535A	MOCOS	NM_017947.4(MOCOS):c.-5G>A	noncoding	Benign
18	36187554	G	A	G36187554A	MOCOS	NM_017947.4(MOCOS):c.15G>A:p.Ala5=	coding	Benign/Likely_benign
18	36187605	C	A	C36187605A	MOCOS	NM_017947.4(MOCOS):c.66C>A:p.Ser22Arg	coding	Benign
18	36187692	C	A	C36187692A	MOCOS	NM_017947.4(MOCOS):c.142+11C>A	noncoding	Benign/Likely_benign
18	36187701	T	C	T36187701C	MOCOS	NM_017947.4(MOCOS):c.142+20T>C	noncoding	Benign
18	36187786	G	A	G36187786A	MOCOS	NM_017947.4(MOCOS):c.142+105G>A	noncoding	Benign
18	36194987	G	A	G36194987A	MOCOS	NM_017947.4(MOCOS):c.143-270G>A	noncoding	Benign
18	36195063	T	G	T36195063G	MOCOS	NM_017947.4(MOCOS):c.143-194T>G	noncoding	Benign
18	36195408	G	A	G36195408A	MOCOS	NM_017947.4(MOCOS):c.232+62G>A	noncoding	Benign
18	36195416	C	T	C36195416T	MOCOS	NM_017947.4(MOCOS):c.232+70C>T	noncoding	Benign
18	36195492	C	A	C36195492A	MOCOS	NM_017947.4(MOCOS):c.232+146C>A	noncoding	Benign
18	36195614	G	A	G36195614A	MOCOS	NM_017947.4(MOCOS):c.232+268G>A	noncoding	Benign
18	36198505	C	A	C36198505A	MOCOS	NM_017947.4(MOCOS):c.233-185C>A	noncoding	Benign
18	36198643	G	A	G36198643A	MOCOS	NM_017947.4(MOCOS):c.233-47G>A	noncoding	Benign
18	36198644	C	A	C36198644A	MOCOS	NM_017947.4(MOCOS):c.233-46C>A	noncoding	Benign
18	36198850	G	A	G36198850A	MOCOS	NM_017947.4(MOCOS):c.299+94G>A	noncoding	Benign
18	36198989	C	G	C36198989G	MOCOS	NM_017947.4(MOCOS):c.299+233C>G	noncoding	Benign
18	36199386	G	T	G36199386T	MOCOS	NM_017947.4(MOCOS):c.300-297G>T	noncoding	Benign
18	36199742	G	A	G36199742A	MOCOS	NM_017947.4(MOCOS):c.359G>A:p.Ser120Asn	coding	Benign
18	36199746	G	A	G36199746A	MOCOS	NM_017947.4(MOCOS):c.363G>A:p.Thr121=	coding	Benign
18	36199858	C	A	C36199858A	MOCOS	NM_017947.4(MOCOS):c.475C>A:p.Arg159=	coding	Benign
18	36199892	C	T	C36199892T	MOCOS	NM_017947.4(MOCOS):c.509C>T:p.Thr170Ile	coding	Benign
18	36199933	A	G	A36199933G	MOCOS	NM_017947.4(MOCOS):c.550A>G:p.Ser184Gly	coding	Benign
18	36200057	A	G	A36200057G	MOCOS	NM_017947.4(MOCOS):c.674A>G:p.His225Arg	coding	Benign
18	36200344	G	A	G36200344A	MOCOS	NM_017947.4(MOCOS):c.941+20G>A	noncoding	Benign
18	36203067	T	C	T36203067C	MOCOS	NM_017947.4(MOCOS):c.942-46T>C	noncoding	Benign
18	36205130	G	A	G36205130A	MOCOS	NM_017947.4(MOCOS):c.1072G>A:p.Val358Met	coding	Benign
18	36205222	A	G	A36205222G	MOCOS	NM_017947.4(MOCOS):c.1164A>G:p.Pro388=	coding	Benign
18	36205341	T	C	T36205341C	MOCOS	NM_017947.4(MOCOS):c.1218+65T>C	noncoding	Benign
18	36213402	C	T	C36213402T	MOCOS	NM_017947.4(MOCOS):c.1255C>T:p.Arg419Ter	coding	Pathogenic
18	36213548	T	C	T36213548C	MOCOS	NM_017947.4(MOCOS):c.1335+66T>C	noncoding	Benign
18	36215333	C	T	C36215333T	MOCOS	NM_017947.4(MOCOS):c.1336-183C>T	noncoding	Benign
18	36215378	C	T	C36215378T	MOCOS	NM_017947.4(MOCOS):c.1336-138C>T	noncoding	Benign
18	36215462	G	A	G36215462A	MOCOS	NM_017947.4(MOCOS):c.1336-54G>A	noncoding	Benign
18	36215769	C	T	C36215769T	MOCOS	NM_017947.4(MOCOS):c.1589C>T:p.Ser530Leu	coding	Benign
18	36219896	T	A	T36219896A	MOCOS	NM_017947.4(MOCOS):c.1798-159T>A	noncoding	Benign
18	36219967	C	T	C36219967T	MOCOS	NM_017947.4(MOCOS):c.1798-88C>T	noncoding	Benign
18	36220036	C	T	C36220036T	MOCOS	NM_017947.4(MOCOS):c.1798-19C>T	noncoding	Benign
18	36220165	G	A	G36220165A	MOCOS	NM_017947.4(MOCOS):c.1908G>A:p.Leu636=	coding	Benign
18	36248842	C	T	C36248842T	MOCOS	NM_017947.4(MOCOS):c.1961-80C>T	noncoding	Benign
18	36249017	C	G	C36249017G	MOCOS	NM_017947.4(MOCOS):c.2039+17C>G	noncoding	Benign
18	36249114	T	C	T36249114C	MOCOS	NM_017947.4(MOCOS):c.2039+114T>C	noncoding	Benign
18	36251081	C	T	C36251081T	MOCOS	NM_017947.4(MOCOS):c.2040-78C>T	noncoding	Benign
18	36251226	C	A	C36251226A	MOCOS	NM_017947.4(MOCOS):c.2107C>A:p.His703Asn	coding	Benign
18	36251352	C	T	C36251352T	MOCOS	NM_017947.4(MOCOS):c.2164+69C>T	noncoding	Benign
18	36251449	G	A	G36251449A	MOCOS	NM_017947.4(MOCOS):c.2164+166G>A	noncoding	Benign
18	36251496	C	T	C36251496T	MOCOS	NM_017947.4(MOCOS):c.2164+213C>T	noncoding	Benign
18	36251567	T	C	T36251567C	MOCOS	NM_017947.4(MOCOS):c.2164+284T>C	noncoding	Benign
18	36256756	G	A	G36256756A	MOCOS	NM_017947.4(MOCOS):c.2165-212G>A	noncoding	Benign
18	36257090	C	T	C36257090T	MOCOS	NM_017947.4(MOCOS):c.2270+17C>T	noncoding	Benign
18	36259993	C	T	C36259993T	MOCOS	NM_017947.4(MOCOS):c.2271-44C>T	noncoding	Benign
18	36260420	G	A	G36260420A	MOCOS	NM_017947.4(MOCOS):c.2409+245G>A	noncoding	Benign
18	36266511	A	G	A36266511G	MOCOS	NM_017947.4(MOCOS):c.2410-238A>G	noncoding	Benign
18	36266634	A	C	A36266634C	MOCOS	NM_017947.4(MOCOS):c.2410-115A>C	noncoding	Benign
18	36268618	T	C	T36268618C	MOCOS	NM_017947.4(MOCOS):c.2600T>C:p.Val867Ala	coding	Benign
18	36297479	C	G	C36297479G	FHOD3	Single_allele	noncoding	Benign
18	36297533	G	C	G36297533C	FHOD3	Single_allele	noncoding	Benign
18	36297547	C	T	C36297547T	FHOD3	Single_allele	noncoding	Benign
18	36297703	C	G	C36297703G	FHOD3	Single_allele	noncoding	Benign
18	36297724	T	C	T36297724C	FHOD3	NM_001281740.3(FHOD3):c.-112T>C	noncoding	Benign
18	36297750	G	T	G36297750T	FHOD3	NM_001281740.3(FHOD3):c.-86G>T	noncoding	Benign
18	36298120	C	T	C36298120T	FHOD3	NM_001281740.3(FHOD3):c.165+120C>T	noncoding	Benign
18	36355339	A	G	A36355339G	FHOD3	NM_001281740.3(FHOD3):c.166-200A>G	noncoding	Benign
18	36355850	G	C	G36355850C	FHOD3	NM_001281740.3(FHOD3):c.272+205G>C	noncoding	Benign
18	36501886	A	G	A36501886G	FHOD3	NM_001281740.3(FHOD3):c.338-46A>G	noncoding	Benign
18	36512364	G	C	G36512364C	FHOD3	NM_001281740.3(FHOD3):c.406-74G>C	noncoding	Benign
18	36512672	T	A	T36512672A	FHOD3	NM_001281740.3(FHOD3):c.511+129T>A	noncoding	Benign
18	36576314	C	T	C36576314T	FHOD3	NM_001281740.3(FHOD3):c.512-137C>T	noncoding	Benign
18	36576315	T	G	T36576315G	FHOD3	NM_001281740.3(FHOD3):c.512-136T>G	noncoding	Benign
18	36576534	A	G	A36576534G	FHOD3	NM_001281740.3(FHOD3):c.595A>G:p.Ile199Val	coding	Benign
18	36576786	C	T	C36576786T	FHOD3	NM_001281740.3(FHOD3):c.606+241C>T	noncoding	Benign
18	36594474	C	T	C36594474T	FHOD3	NM_001281740.3(FHOD3):c.607-313C>T	noncoding	Benign
18	36594995	T	C	T36594995C	FHOD3	NM_001281740.3(FHOD3):c.718+97T>C	noncoding	Benign
18	36602837	A	G	A36602837G	FHOD3	NM_001281740.3(FHOD3):c.813+69A>G	noncoding	Benign
18	36602871	G	A	G36602871A	FHOD3	NM_001281740.3(FHOD3):c.813+103G>A	noncoding	Benign
18	36602975	A	G	A36602975G	FHOD3	NM_001281740.3(FHOD3):c.813+207A>G	noncoding	Benign
18	36612181	A	C	A36612181C	FHOD3	NM_001281740.3(FHOD3):c.957+86A>C	noncoding	Benign
18	36612197	C	T	C36612197T	FHOD3	NM_001281740.3(FHOD3):c.957+102C>T	noncoding	Benign
18	36625282	G	A	G36625282A	FHOD3	NM_001281740.3(FHOD3):c.958-229G>A	noncoding	Benign
18	36625305	T	C	T36625305C	FHOD3	NM_001281740.3(FHOD3):c.958-206T>C	noncoding	Benign
18	36625333	G	A	G36625333A	FHOD3	NM_001281740.3(FHOD3):c.958-178G>A	noncoding	Benign
18	36625422	A	G	A36625422G	FHOD3	NM_001281740.3(FHOD3):c.958-89A>G	noncoding	Benign
18	36625452	T	C	T36625452C	FHOD3	NM_001281740.3(FHOD3):c.958-59T>C	noncoding	Benign
18	36625588	C	T	C36625588T	FHOD3	NM_001281740.3(FHOD3):c.1035C>T:p.Ser345=	coding	Benign
18	36649179	G	T	G36649179T	FHOD3	NM_001281740.3(FHOD3):c.1197-137G>T	noncoding	Benign
18	36649596	C	T	C36649596T	FHOD3	NM_001281740.3(FHOD3):c.1286+191C>T	noncoding	Benign
18	36649675	C	A	C36649675A	FHOD3	NM_001281740.3(FHOD3):c.1286+270C>A	noncoding	Benign
18	36652647	C	T	C36652647T	FHOD3	NM_001281740.3(FHOD3):c.1364C>T:p.Ser455Leu	coding	Benign
18	36652694	G	A	G36652694A	FHOD3	NM_001281740.3(FHOD3):c.1411G>A:p.Gly471Arg	coding	Benign
18	36652866	A	G	A36652866G	FHOD3	NM_001281740.3(FHOD3):c.1583A>G:p.Tyr528Cys	coding	Pathogenic
18	36652989	T	C	T36652989C	FHOD3	NM_001281740.3(FHOD3):c.1646+60T>C	noncoding	Benign
18	36653268	C	T	C36653268T	FHOD3	NM_001281740.3(FHOD3):c.1647-74C>T	noncoding	Benign
18	36653567	T	C	T36653567C	FHOD3	NM_001281740.3(FHOD3):c.1721+151T>C	noncoding	Benign
18	36653582	A	C	A36653582C	FHOD3	NM_001281740.3(FHOD3):c.1721+166A>C	noncoding	Benign
18	36653679	C	A	C36653679A	FHOD3	NM_001281740.3(FHOD3):c.1721+263C>A	noncoding	Benign
18	36658013	T	C	T36658013C	FHOD3	NM_001281740.3(FHOD3):c.1722-62T>C	noncoding	Benign
18	36681227	C	T	C36681227T	FHOD3	NM_001281740.3(FHOD3):c.1836-209C>T	noncoding	Benign
18	36681596	T	A	T36681596A	FHOD3	NM_001281740.3(FHOD3):c.1970+26T>A	noncoding	Benign
18	36687419	A	G	A36687419G	FHOD3	NM_001281740.3(FHOD3):c.2021+241A>G	noncoding	Benign
18	36687470	C	T	C36687470T	FHOD3	NM_001281740.3(FHOD3):c.2021+292C>T	noncoding	Benign
18	36693076	T	C	T36693076C	FHOD3	NM_001281740.3(FHOD3):c.2022-133T>C	noncoding	Benign
18	36693316	C	G	C36693316G	FHOD3	NM_001281740.3(FHOD3):c.2129C>G:p.Ala710Gly	coding	Benign
18	36693477	C	T	C36693477T	FHOD3	NM_001281740.3(FHOD3):c.2236+54C>T	noncoding	Benign
18	36693523	C	T	C36693523T	FHOD3	NM_001281740.3(FHOD3):c.2236+100C>T	noncoding	Benign
18	36709401	G	A	G36709401A	FHOD3	NM_001281740.3(FHOD3):c.2533+10G>A	noncoding	Benign
18	36717790	C	T	C36717790T	FHOD3	NM_001281740.3(FHOD3):c.2534-42C>T	noncoding	Benign
18	36718370	A	C	A36718370C	FHOD3	NM_001281740.3(FHOD3):c.3072A>C:p.Pro1024=	coding	Benign
18	36718376	A	C	A36718376C	FHOD3	NM_001281740.3(FHOD3):c.3078A>C:p.Pro1026=	coding	Benign
18	36718403	A	C	A36718403C	FHOD3	NM_001281740.3(FHOD3):c.3105A>C:p.Pro1035=	coding	Benign
18	36718769	G	C	G36718769C	FHOD3	NM_001281740.3(FHOD3):c.3417+54G>C	noncoding	Benign
18	36730705	C	T	C36730705T	FHOD3	NM_001281740.3(FHOD3):c.3477C>T:p.Asn1159=	coding	Benign
18	36740448	C	A	C36740448A	FHOD3	NM_001281740.3(FHOD3):c.3577-208C>A	noncoding	Benign
18	36740667	G	A	G36740667A	FHOD3	NM_001281740.3(FHOD3):c.3588G>A:p.Thr1196=	coding	Benign
18	36743892	T	C	T36743892C	FHOD3	NM_001281740.3(FHOD3):c.3880-140T>C	noncoding	Benign
18	36744128	G	A	G36744128A	FHOD3	NM_001281740.3(FHOD3):c.3976G>A:p.Val1326Ile	coding	Benign
18	36744227	C	T	C36744227T	FHOD3	NM_001281740.3(FHOD3):c.4041+34C>T	noncoding	Benign
18	36744324	T	G	T36744324G	FHOD3	NM_001281740.3(FHOD3):c.4041+131T>G	noncoding	Benign
18	36744413	A	G	A36744413G	FHOD3	NM_001281740.3(FHOD3):c.4041+220A>G	noncoding	Benign
18	36746844	T	C	T36746844C	FHOD3	NM_001281740.3(FHOD3):c.4042-101T>C	noncoding	Benign
18	36758809	C	G	C36758809G	FHOD3	NM_001281740.3(FHOD3):c.4426-309C>G	noncoding	Benign
18	36759081	T	C	T36759081C	FHOD3	NM_001281740.3(FHOD3):c.4426-37T>C	noncoding	Benign
18	36760484	T	C	T36760484C	FHOD3	NM_001281740.3(FHOD3):c.4450-124T>C	noncoding	Benign
18	36760523	C	G	C36760523G	FHOD3	NM_001281740.3(FHOD3):c.4450-85C>G	noncoding	Benign
18	36760688	C	T	C36760688T	FHOD3	NM_001281740.3(FHOD3):c.4530C>T:p.His1510=	coding	Benign
18	36760887	G	A	G36760887A	FHOD3	NM_001281740.3(FHOD3):c.4624+105G>A	noncoding	Benign
18	36768995	A	G	A36768995G	FHOD3	NM_001281740.3(FHOD3):c.4625-270A>G	noncoding	Benign
18	36769072	C	T	C36769072T	FHOD3	NM_001281740.3(FHOD3):c.4625-193C>T	noncoding	Benign
18	44700980	G	A	G44700980A	SETBP1	NM_015559.3(SETBP1):c.-172-195G>A	noncoding	Benign
18	44701391	C	T	C44701391T	SETBP1	NM_015559.3(SETBP1):c.45C>T:p.Gly15=	coding	Benign
18	44701431	G	A	G44701431A	SETBP1	NM_015559.3(SETBP1):c.85G>A:p.Ala29Thr	coding	Benign
18	44701448	A	C	A44701448C	SETBP1	NM_015559.3(SETBP1):c.102A>C:p.Ala34=	coding	Benign
18	44701507	G	A	G44701507A	SETBP1	NM_015559.3(SETBP1):c.161G>A:p.Arg54His	coding	Benign
18	44819625	A	G	A44819625G	SETBP1	NM_015559.3(SETBP1):c.487-49605A>G	noncoding	Benign
18	44831838	G	C	G44831838C	SETBP1	NM_015559.3(SETBP1):c.487-37392G>C	noncoding	Benign
18	44869340	G	A	G44869340A	SETBP1	NM_015559.3(SETBP1):c.540+57G>A	noncoding	Benign
18	44876522	T	G	T44876522G	SETBP1	NM_015559.3(SETBP1):c.540+7239T>G	noncoding	Benign
18	44876688	G	A	G44876688A	SETBP1	NM_015559.3(SETBP1):c.540+7405G>A	coding	Benign
18	44949871	C	T	C44949871T	SETBP1	NM_015559.3(SETBP1):c.541-10C>T	noncoding	Benign
18	44949915	A	G	A44949915G	SETBP1	NM_015559.3(SETBP1):c.575A>G:p.His192Arg	coding	Benign/Likely_benign
18	44949947	G	A	G44949947A	SETBP1	NM_015559.3(SETBP1):c.607G>A:p.Gly203Ser	coding	Benign/Likely_benign
18	44950013	A	G	A44950013G	SETBP1	NM_015559.3(SETBP1):c.673A>G:p.Asn225Asp	coding	Benign
18	44950021	C	G	C44950021G	SETBP1	NM_015559.3(SETBP1):c.681C>G:p.Asp227Glu	coding	Benign
18	44950024	C	T	C44950024T	SETBP1	NM_015559.3(SETBP1):c.684C>T:p.Ser228=	coding	Benign/Likely_benign
18	44950025	G	A	G44950025A	SETBP1	NM_015559.3(SETBP1):c.685G>A:p.Gly229Arg	coding	Benign/Likely_benign
18	44950109	G	A	G44950109A	SETBP1	NM_015559.3(SETBP1):c.769G>A:p.Val257Met	coding	Benign
18	44950377	C	T	C44950377T	SETBP1	NM_015559.3(SETBP1):c.1037C>T:p.Thr346Ile	coding	Benign/Likely_benign
18	44950452	G	T	G44950452T	SETBP1	NM_015559.3(SETBP1):c.1112G>T:p.Gly371Val	coding	Benign
18	44950473	A	G	A44950473G	SETBP1	NM_015559.3(SETBP1):c.1133A>G:p.Gln378Arg	coding	Benign
18	44950499	G	A	G44950499A	SETBP1	NM_015559.3(SETBP1):c.1159G>A:p.Val387Met	coding	Benign
18	44950542	G	A	G44950542A	SETBP1	NM_015559.3(SETBP1):c.1202G>A:p.Arg401Gln	coding	Benign
18	44950544	A	G	A44950544G	SETBP1	NM_015559.3(SETBP1):c.1204A>G:p.Ile402Val	coding	Benign/Likely_benign
18	44950562	G	T	G44950562T	SETBP1	NM_015559.3(SETBP1):c.1222G>T:p.Ala408Ser	coding	Benign
18	44950694	C	T	C44950694T	SETBP1	NM_015559.3(SETBP1):c.1354C>T:p.Leu452Phe	coding	Benign/Likely_benign
18	44950768	C	G	C44950768G	SETBP1	NM_015559.3(SETBP1):c.1428C>G:p.Pro476=	coding	Benign
18	44950830	C	T	C44950830T	SETBP1	NM_015559.3(SETBP1):c.1490C>T:p.Pro497Leu	coding	Benign
18	44950832	C	G	C44950832G	SETBP1	NM_015559.3(SETBP1):c.1492C>G:p.Arg498Gly	coding	Benign
18	44950833	G	A	G44950833A	SETBP1	NM_015559.3(SETBP1):c.1493G>A:p.Arg498Gln	coding	Benign/Likely_benign
18	44951006	C	G	C44951006G	SETBP1	NM_015559.3(SETBP1):c.1666C>G:p.Leu556Val	coding	Benign
18	44951017	G	A	G44951017A	SETBP1	NM_015559.3(SETBP1):c.1677G>A:p.Pro559=	coding	Benign
18	44951117	C	T	C44951117T	SETBP1	NM_015559.3(SETBP1):c.1777C>T:p.Gln593Ter	coding	Pathogenic
18	44951220	G	A	G44951220A	SETBP1	NM_015559.3(SETBP1):c.1880G>A:p.Arg627His	coding	Benign/Likely_benign
18	44951229	C	T	C44951229T	SETBP1	NM_015559.3(SETBP1):c.1889C>T:p.Ala630Val	coding	Benign
18	44951402	G	A	G44951402A	SETBP1	NM_015559.3(SETBP1):c.2062G>A:p.Val688Ile	coding	Benign/Likely_benign
18	44951594	G	A	G44951594A	SETBP1	NM_015559.3(SETBP1):c.2254G>A:p.Val752Ile	coding	Benign
18	44951820	G	A	G44951820A	SETBP1	NM_015559.3(SETBP1):c.2480G>A:p.Trp827Ter	coding	Pathogenic
18	44951869	C	T	C44951869T	SETBP1	NM_015559.3(SETBP1):c.2529C>T:p.Cys843=	coding	Benign
18	44952005	C	T	C44952005T	SETBP1	NM_015559.3(SETBP1):c.2665C>T:p.Arg889Ter	coding	Pathogenic
18	44952213	A	G	A44952213G	SETBP1	NM_015559.3(SETBP1):c.2873A>G:p.Glu958Gly	coding	Benign/Likely_benign
18	44952274	C	T	C44952274T	SETBP1	NM_015559.3(SETBP1):c.2934C>T:p.His978=	coding	Benign/Likely_benign
18	44952639	A	G	A44952639G	SETBP1	NM_015559.3(SETBP1):c.3299A>G:p.His1100Arg	coding	Benign/Likely_benign
18	44952821	G	C	G44952821C	SETBP1	NM_015559.3(SETBP1):c.3481G>C:p.Asp1161His	coding	Benign/Likely_benign
18	44952917	G	T	G44952917T	SETBP1	NM_015559.3(SETBP1):c.3577G>T:p.Ala1193Ser	coding	Benign
18	44952985	C	T	C44952985T	SETBP1	NM_015559.3(SETBP1):c.3645C>T:p.Ser1215=	coding	Benign
18	44952992	G	A	G44952992A	SETBP1	NM_015559.3(SETBP1):c.3652G>A:p.Gly1218Ser	coding	Benign
18	44953071	A	G	A44953071G	SETBP1	NM_015559.3(SETBP1):c.3731A>G:p.Gln1244Arg	coding	Benign
18	44953130	T	G	T44953130G	SETBP1	NM_015559.3(SETBP1):c.3790T>G:p.Ser1264Ala	coding	Benign/Likely_benign
18	44953148	G	A	G44953148A	SETBP1	NM_015559.3(SETBP1):c.3808G>A:p.Gly1270Ser	coding	Benign/Likely_benign
18	44953200	C	T	C44953200T	SETBP1	NM_015559.3(SETBP1):c.3860C>T:p.Ser1287Leu	coding	Benign
18	44953223	G	A	G44953223A	SETBP1	NM_015559.3(SETBP1):c.3883G>A:p.Val1295Met	coding	Benign/Likely_benign
18	44953264	G	A	G44953264A	SETBP1	NM_015559.3(SETBP1):c.3924G>A:p.Thr1308=	coding	Benign
18	45038580	G	A	G45038580A	SETBP1	NM_015559.3(SETBP1):c.4096G>A:p.Ala1366Thr	coding	Benign
18	45038640	G	A	G45038640A	SETBP1	NM_015559.3(SETBP1):c.4156G>A:p.Ala1386Thr	coding	Benign/Likely_benign
18	45038768	C	T	C45038768T	SETBP1	NM_015559.3(SETBP1):c.4171+113C>T	noncoding	Benign
18	45063074	C	G	C45063074G	SETBP1	NM_015559.3(SETBP1):c.4172-5C>G	noncoding	Benign
18	45063116	G	A	G45063116A	SETBP1	NM_015559.3(SETBP1):c.4209G>A:p.Glu1403=	coding	Benign/Likely_benign
18	45063197	G	A	G45063197A	SETBP1	NM_015559.3(SETBP1):c.4290G>A:p.Val1430=	coding	Benign/Likely_benign
18	45063251	C	T	C45063251T	SETBP1	NM_015559.3(SETBP1):c.4344C>T:p.Asn1448=	coding	Benign
18	45063275	T	C	T45063275C	SETBP1	NM_015559.3(SETBP1):c.4368T>C:p.Arg1456=	coding	Benign
18	45063305	G	T	G45063305T	SETBP1	NM_015559.3(SETBP1):c.4398G>T:p.Glu1466Asp	coding	Benign/Likely_benign
18	45063372	C	T	C45063372T	SETBP1	NM_015559.3(SETBP1):c.4465C>T:p.Pro1489Ser	coding	Benign
18	45063580	A	T	A45063580T	SETBP1	NM_015559.3(SETBP1):c.4673A>T:p.Gln1558Leu	coding	Benign
18	45063635	A	G	A45063635G	SETBP1	NM_015559.3(SETBP1):c.4728A>G:p.Glu1576=	coding	Benign/Likely_benign
18	45734273	G	A	G45734273A	SLC14A1	NM_015865.7(SLC14A1):c.342-1G>A	noncoding	Pathogenic
18	45839038	T	C	T45839038C	SIGLEC15	NM_213602.3(SIGLEC15):c.817T>C:p.Phe273Leu	coding	Benign
18	45852327	C	T	C45852327T	EPG5	NM_020964.3(EPG5):c.*140G>A	noncoding	Benign
18	45852393	A	C	A45852393C	EPG5	NM_020964.3(EPG5):c.*74T>G	noncoding	Benign
18	45852854	G	A	G45852854A	EPG5	NM_020964.3(EPG5):c.7558-205C>T	noncoding	Benign
18	45855671	G	A	G45855671A	EPG5	NM_020964.3(EPG5):c.7459C>T:p.Arg2487Ter	coding	Pathogenic
18	45855701	G	A	G45855701A	EPG5	NM_020964.3(EPG5):c.7443-14C>T	noncoding	Benign/Likely_benign
18	45855773	A	C	A45855773C	EPG5	NM_020964.3(EPG5):c.7443-86T>G	noncoding	Benign
18	45858191	C	T	C45858191T	EPG5	NM_020964.3(EPG5):c.7227-123G>A	noncoding	Benign
18	45858196	G	C	G45858196C	EPG5	NM_020964.3(EPG5):c.7227-128C>G	noncoding	Benign
18	45858735	G	A	G45858735A	EPG5	NM_020964.3(EPG5):c.7057C>T:p.Gln2353Ter	coding	Pathogenic
18	45860084	G	A	G45860084A	EPG5	NM_020964.3(EPG5):c.7009+20C>T	noncoding	Benign
18	45865293	G	A	G45865293A	EPG5	NM_020964.3(EPG5):c.6766+322C>T	noncoding	Benign
18	45865377	C	T	C45865377T	EPG5	NM_020964.3(EPG5):c.6766+238G>A	noncoding	Benign
18	45865851	G	C	G45865851C	EPG5	NM_020964.3(EPG5):c.6622-92C>G	noncoding	Benign
18	45866541	T	C	T45866541C	EPG5	NM_020964.3(EPG5):c.6621+257A>G	noncoding	Benign
18	45866769	T	C	T45866769C	EPG5	NM_020964.3(EPG5):c.6621+29A>G	noncoding	Benign
18	45867257	C	T	C45867257T	EPG5	NM_020964.3(EPG5):c.6412-250G>A	noncoding	Benign
18	45867766	A	C	A45867766C	EPG5	NM_020964.3(EPG5):c.6226-18T>G	noncoding	Benign
18	45870386	T	C	T45870386C	EPG5	NM_020964.3(EPG5):c.6225+181A>G	noncoding	Benign
18	45876110	C	T	C45876110T	EPG5	NM_020964.3(EPG5):c.6049+126G>A	noncoding	Benign
18	45876546	A	C	A45876546C	EPG5	NM_020964.3(EPG5):c.5943-204T>G	noncoding	Benign
18	45876588	T	C	T45876588C	EPG5	NM_020964.3(EPG5):c.5943-246A>G	noncoding	Benign
18	45878620	C	T	C45878620T	EPG5	NM_020964.3(EPG5):c.5870-172G>A	noncoding	Benign
18	45878995	G	A	G45878995A	EPG5	NM_020964.3(EPG5):c.5869+18C>T	noncoding	Benign
18	45879398	T	C	T45879398C	EPG5	NM_020964.3(EPG5):c.5668-184A>G	noncoding	Benign
18	45880125	C	A	C45880125A	EPG5	NM_020964.3(EPG5):c.5617G>T:p.Glu1873Ter	coding	Pathogenic
18	45880198	G	A	G45880198A	EPG5	NM_020964.3(EPG5):c.5544C>T:p.Pro1848=	coding	Benign
18	45887519	G	C	G45887519C	EPG5	NM_020964.3(EPG5):c.5109+232C>G	noncoding	Benign
18	45889614	G	C	G45889614C	EPG5	NM_020964.3(EPG5):c.4952+184C>G	noncoding	Benign
18	45899462	A	T	A45899462T	EPG5	NM_020964.3(EPG5):c.4751T>A:p.Leu1584Ter	coding	Pathogenic/Likely_pathogenic
18	45900806	C	A	C45900806A	EPG5	NM_020964.3(EPG5):c.4646+190G>T	noncoding	Benign
18	45900856	A	C	A45900856C	EPG5	NM_020964.3(EPG5):c.4646+140T>G	noncoding	Benign
18	45900961	A	G	A45900961G	EPG5	NM_020964.3(EPG5):c.4646+35T>C	noncoding	Benign
18	45900976	G	A	G45900976A	EPG5	NM_020964.3(EPG5):c.4646+20C>T	noncoding	Benign
18	45901405	C	T	C45901405T	EPG5	NM_020964.3(EPG5):c.4475-238G>A	noncoding	Benign
18	45904326	T	C	T45904326C	EPG5	NM_020964.3(EPG5):c.4330-209A>G	noncoding	Benign
18	45907658	A	G	A45907658G	EPG5	NM_020964.3(EPG5):c.4329+300T>C	noncoding	Benign
18	45907704	T	C	T45907704C	EPG5	NM_020964.3(EPG5):c.4329+254A>G	noncoding	Benign
18	45907761	C	T	C45907761T	EPG5	NM_020964.3(EPG5):c.4329+197G>A	noncoding	Benign
18	45908107	G	A	G45908107A	EPG5	NM_020964.3(EPG5):c.4206-26C>T	noncoding	Benign
18	45910447	T	C	T45910447C	EPG5	NM_020964.3(EPG5):c.4205+74A>G	noncoding	Benign
18	45910762	G	C	G45910762C	EPG5	NM_020964.3(EPG5):c.3984-20C>G	noncoding	Benign
18	45914138	C	T	C45914138T	EPG5	NM_020964.3(EPG5):c.3694-310G>A	noncoding	Benign
18	45914149	A	G	A45914149G	EPG5	NM_020964.3(EPG5):c.3694-321T>C	noncoding	Benign
18	45915451	G	T	G45915451T	EPG5	NM_020964.3(EPG5):c.3693+60C>A	noncoding	Benign
18	45915997	C	G	C45915997G	EPG5	NM_020964.3(EPG5):c.3582+12G>C	noncoding	Benign
18	45916047	C	A	C45916047A	EPG5	NM_020964.3(EPG5):c.3544G>T:p.Glu1182Ter	coding	Pathogenic
18	45916226	G	A	G45916226A	EPG5	NM_020964.3(EPG5):c.3385-20C>T	noncoding	Benign
18	45916798	G	A	G45916798A	EPG5	NM_020964.3(EPG5):c.3240-216C>T	noncoding	Benign
18	45916865	C	T	C45916865T	EPG5	NM_020964.3(EPG5):c.3240-283G>A	noncoding	Benign
18	45918091	G	A	G45918091A	EPG5	NM_020964.3(EPG5):c.3099-272C>T	noncoding	Benign
18	45918130	C	T	C45918130T	EPG5	NM_020964.3(EPG5):c.3099-311G>A	noncoding	Benign
18	45922224	G	T	G45922224T	EPG5	NM_020964.3(EPG5):c.3098+117C>A	noncoding	Benign
18	45922576	G	A	G45922576A	EPG5	NM_020964.3(EPG5):c.2863C>T:p.Arg955Ter	coding	Pathogenic
18	45922762	T	C	T45922762C	EPG5	NM_020964.3(EPG5):c.2839-162A>G	noncoding	Benign
18	45922901	T	C	T45922901C	EPG5	NM_020964.3(EPG5):c.2839-301A>G	noncoding	Benign
18	45925592	C	G	C45925592G	EPG5	NM_020964.3(EPG5):c.2718+146G>C	noncoding	Benign
18	45925794	T	A	T45925794A	EPG5	NM_020964.3(EPG5):c.2662A>T:p.Lys888Ter	coding	Pathogenic
18	45928632	G	A	G45928632A	EPG5	NM_020964.3(EPG5):c.2553+237C>T	noncoding	Benign
18	45928641	A	G	A45928641G	EPG5	NM_020964.3(EPG5):c.2553+228T>C	noncoding	Benign
18	45928822	A	C	A45928822C	EPG5	NM_020964.3(EPG5):c.2553+47T>G	noncoding	Benign
18	45928834	G	A	G45928834A	EPG5	NM_020964.3(EPG5):c.2553+35C>T	noncoding	Benign
18	45928972	G	T	G45928972T	EPG5	NM_020964.3(EPG5):c.2450C>A:p.Ser817Ter	coding	Pathogenic
18	45929079	A	G	A45929079G	EPG5	NM_020964.3(EPG5):c.2413-70T>C	noncoding	Benign
18	45929273	C	T	C45929273T	EPG5	NM_020964.3(EPG5):c.2413-264G>A	noncoding	Benign
18	45930714	C	T	C45930714T	EPG5	NM_020964.3(EPG5):c.2374G>A:p.Glu792Lys	coding	Benign
18	45934833	C	T	C45934833T	EPG5	NM_020964.3(EPG5):c.2233G>A:p.Ala745Thr	coding	Benign
18	45939475	A	G	A45939475G	EPG5	NM_020964.3(EPG5):c.2099+125T>C	noncoding	Benign
18	45939771	G	A	G45939771A	EPG5	NM_020964.3(EPG5):c.1944-16C>T	noncoding	Benign
18	45939859	C	T	C45939859T	EPG5	NM_020964.3(EPG5):c.1944-104G>A	noncoding	Benign
18	45943346	G	A	G45943346A	EPG5	NM_020964.3(EPG5):c.1793-35C>T	noncoding	Benign
18	45943520	T	G	T45943520G	EPG5	NM_020964.3(EPG5):c.1793-209A>C	noncoding	Benign
18	45943605	A	G	A45943605G	EPG5	NM_020964.3(EPG5):c.1793-294T>C	noncoding	Benign
18	45944031	T	C	T45944031C	EPG5	NM_020964.3(EPG5):c.1766A>G:p.Gln589Arg	coding	Benign/Likely_benign
18	45944179	C	A	C45944179A	EPG5	NM_020964.3(EPG5):c.1678-60G>T	noncoding	Benign
18	45944332	A	G	A45944332G	EPG5	NM_020964.3(EPG5):c.1678-213T>C	noncoding	Benign
18	45946806	T	C	T45946806C	EPG5	NM_020964.3(EPG5):c.1572-38A>G	noncoding	Benign
18	45948283	A	G	A45948283G	EPG5	NM_020964.3(EPG5):c.1571+220T>C	noncoding	Benign
18	45949417	C	T	C45949417T	EPG5	NM_020964.3(EPG5):c.1497+67G>A	noncoding	Benign
18	45951275	T	C	T45951275C	EPG5	NM_020964.3(EPG5):c.1253-37A>G	noncoding	Benign
18	45951398	C	T	C45951398T	EPG5	NM_020964.3(EPG5):c.1253-160G>A	noncoding	Benign
18	45951399	A	C	A45951399C	EPG5	NM_020964.3(EPG5):c.1253-161T>G	noncoding	Benign
18	45954077	T	C	T45954077C	EPG5	NM_020964.3(EPG5):c.1008+317A>G	noncoding	Benign
18	45954395	T	C	T45954395C	EPG5	NM_020964.3(EPG5):c.1007A>G:p.Gln336Arg	coding	Pathogenic/Likely_pathogenic
18	45954816	C	T	C45954816T	EPG5	NM_020964.3(EPG5):c.586G>A:p.Gly196Ser	coding	Benign
18	45955551	T	C	T45955551C	EPG5	NM_020964.3(EPG5):c.64-213A>G	noncoding	Benign
18	45955661	G	A	G45955661A	EPG5	NM_020964.3(EPG5):c.64-323C>T	noncoding	Benign
18	45967159	G	A	G45967159A	EPG5	NM_020964.3(EPG5):c.63+18C>T	noncoding	Benign
18	45967163	G	T	G45967163T	EPG5	NM_020964.3(EPG5):c.63+14C>A	noncoding	Benign
18	46084149	T	C	T46084149C	ATP5F1A	NM_004046.6(ATP5F1A):c.*133A>G	noncoding	Benign
18	46084383	G	A	G46084383A	ATP5F1A	NM_004046.6(ATP5F1A):c.1581-20C>T	noncoding	Benign/Likely_benign
18	46086016	C	T	C46086016T	ATP5F1A	NM_004046.6(ATP5F1A):c.1429+97G>A	noncoding	Benign
18	46086094	G	T	G46086094T	ATP5F1A	NM_004046.6(ATP5F1A):c.1429+19C>A	noncoding	Benign/Likely_benign
18	46086641	A	G	A46086641G	ATP5F1A	NM_004046.6(ATP5F1A):c.1177-147T>C	noncoding	Benign
18	46086895	T	C	T46086895C	ATP5F1A	NM_004046.6(ATP5F1A):c.1176+113A>G	noncoding	Benign
18	46086986	C	A	C46086986A	ATP5F1A	NM_004046.6(ATP5F1A):c.1176+22G>T	noncoding	Benign
18	46087562	T	C	T46087562C	ATP5F1A	NM_004046.6(ATP5F1A):c.800-70A>G	noncoding	Benign
18	46089521	G	A	G46089521A	ATP5F1A	NM_004046.6(ATP5F1A):c.650+45C>T	noncoding	Benign
18	46089596	C	T	C46089596T	ATP5F1A	NM_004046.6(ATP5F1A):c.620G>A:p.Arg207His	coding	Pathogenic/Likely_pathogenic
18	46089808	G	A	G46089808A	ATP5F1A	NM_004046.6(ATP5F1A):c.483+15C>T	noncoding	Benign/Likely_benign
18	46089889	G	A	G46089889A	ATP5F1A	NM_004046.6(ATP5F1A):c.417C>T:p.Asp139=	coding	Benign/Likely_benign
18	46090084	G	T	G46090084T	ATP5F1A	NM_004046.6(ATP5F1A):c.310-88C>A	noncoding	Benign
18	46090085	T	G	T46090085G	ATP5F1A	NM_004046.6(ATP5F1A):c.310-89A>C	noncoding	Benign
18	46094838	A	G	A46094838G	ATP5F1A	NM_004046.6(ATP5F1A):c.139+215T>C	noncoding	Benign
18	46094865	G	A	G46094865A	ATP5F1A	NM_004046.6(ATP5F1A):c.139+188C>T	noncoding	Benign
18	46094913	A	T	A46094913T	ATP5F1A	NM_004046.6(ATP5F1A):c.139+140T>A	noncoding	Benign
18	46097827	G	A	G46097827A	ATP5F1A	NM_004046.6(ATP5F1A):c.60+345C>T	noncoding	Benign
18	46097921	A	G	A46097921G	ATP5F1A	NM_004046.6(ATP5F1A):c.60+251T>C	coding	Benign
18	46098058	G	A	G46098058A	ATP5F1A	NM_004046.6(ATP5F1A):c.60+114C>T	coding	Benign
18	46098365	A	C	A46098365C	ATP5F1A	NM_001001937.2(ATP5F1A):c.-48-86T>G	noncoding	Benign
18	46104334	C	A	C46104334A	ATP5F1A	Single_allele	noncoding	Benign
18	46104364	G	C	G46104364C	ATP5F1A	Single_allele	noncoding	Benign
18	46477048	T	G	T46477048G	LOXHD1	NM_144612.3(LOXHD1):c.*135A>C	noncoding	Benign
18	46477802	A	C	A46477802C	LOXHD1	NM_001384474.1(LOXHD1):c.6492T>G:p.Tyr2164Ter	coding	Pathogenic/Likely_pathogenic
18	46485147	G	C	G46485147C	LOXHD1	NM_001384474.1(LOXHD1):c.6054C>G:p.Tyr2018Ter	coding	Pathogenic
18	46485380	T	C	T46485380C	LOXHD1	NM_001384474.1(LOXHD1):c.6050-229A>G	noncoding	Benign
18	46488850	C	T	C46488850T	LOXHD1	NM_001384474.1(LOXHD1):c.6049+122G>A	noncoding	Benign
18	46505949	G	A	G46505949A	LOXHD1	NM_001384474.1(LOXHD1):c.5767C>T:p.Gln1923Ter	coding	Pathogenic
18	46505952	T	A	T46505952A	LOXHD1	NM_001384474.1(LOXHD1):c.5764A>T:p.Lys1922Ter	coding	Pathogenic
18	46507539	C	G	C46507539G	LOXHD1	NM_001384474.1(LOXHD1):c.5691G>C:p.Leu1897=	coding	Benign
18	46507556	T	A	T46507556A	LOXHD1	NM_001384474.1(LOXHD1):c.5674A>T:p.Lys1892Ter	coding	Pathogenic
18	46507832	G	C	G46507832C	LOXHD1	NM_001384474.1(LOXHD1):c.5518-120C>G	noncoding	Benign
18	46507908	G	A	G46507908A	LOXHD1	NM_001384474.1(LOXHD1):c.5518-196C>T	noncoding	Benign
18	46509472	T	G	T46509472G	LOXHD1	NM_001384474.1(LOXHD1):c.5517+226A>C	noncoding	Benign
18	46518233	C	T	C46518233T	LOXHD1	NM_001384474.1(LOXHD1):c.5295G>A:p.Trp1765Ter	coding	Pathogenic
18	46522250	G	A	G46522250A	LOXHD1	NM_001384474.1(LOXHD1):c.4936C>T:p.Arg1646Ter	coding	Pathogenic/Likely_pathogenic
18	46522299	G	T	G46522299T	LOXHD1	NM_001384474.1(LOXHD1):c.4887C>A:p.Tyr1629Ter	coding	Pathogenic
18	46524785	C	A	C46524785A	LOXHD1	NM_001384474.1(LOXHD1):c.4663G>T:p.Glu1555Ter	coding	Pathogenic
18	46525037	C	T	C46525037T	LOXHD1	NM_001384474.1(LOXHD1):c.4531-120G>A	noncoding	Benign
18	46525097	T	A	T46525097A	LOXHD1	NM_001384474.1(LOXHD1):c.4531-180A>T	noncoding	Benign
18	46529125	C	A	C46529125A	LOXHD1	NM_001384474.1(LOXHD1):c.4530+52G>T	noncoding	Benign
18	46529152	G	A	G46529152A	LOXHD1	NM_001384474.1(LOXHD1):c.4530+25C>T	noncoding	Benign
18	46529230	C	A	C46529230A	LOXHD1	NM_001384474.1(LOXHD1):c.4477G>T:p.Glu1493Ter	coding	Pathogenic
18	46529321	G	C	G46529321C	LOXHD1	NM_001384474.1(LOXHD1):c.4386C>G:p.Tyr1462Ter	coding	Pathogenic
18	46529517	G	A	G46529517A	LOXHD1	NM_001384474.1(LOXHD1):c.4376-186C>T	noncoding	Benign
18	46533238	A	T	A46533238T	LOXHD1	NM_001384474.1(LOXHD1):c.4299T>A:p.Tyr1433Ter	coding	Pathogenic
18	46534510	T	C	T46534510C	LOXHD1	NM_001384474.1(LOXHD1):c.4096-59A>G	noncoding	Benign
18	46534617	C	T	C46534617T	LOXHD1	NM_001384474.1(LOXHD1):c.4096-166G>A	noncoding	Benign
18	46538327	G	T	G46538327T	LOXHD1	NM_001384474.1(LOXHD1):c.3924C>A:p.Tyr1308Ter	coding	Pathogenic
18	46541842	C	A	C46541842A	LOXHD1	NM_001384474.1(LOXHD1):c.3847G>T:p.Glu1283Ter	coding	Pathogenic
18	46541908	C	A	C46541908A	LOXHD1	NM_001384474.1(LOXHD1):c.3781G>T:p.Glu1261Ter	coding	Pathogenic
18	46542047	T	C	T46542047C	LOXHD1	NM_001384474.1(LOXHD1):c.3749-107A>G	noncoding	Benign
18	46542726	C	G	C46542726G	LOXHD1	NM_001384474.1(LOXHD1):c.3748+1G>C	noncoding	Pathogenic
18	46542985	T	G	T46542985G	LOXHD1	NM_001384474.1(LOXHD1):c.3620-130A>C	noncoding	Benign
18	46545164	A	G	A46545164G	LOXHD1	NM_001384474.1(LOXHD1):c.3619+153T>C	noncoding	Benign
18	46545204	T	C	T46545204C	LOXHD1	NM_001384474.1(LOXHD1):c.3619+113A>G	noncoding	Benign
18	46546877	A	G	A46546877G	LOXHD1	NM_001384474.1(LOXHD1):c.3514+18T>C	noncoding	Benign/Likely_benign
18	46546904	C	A	C46546904A	LOXHD1	NM_001384474.1(LOXHD1):c.3505G>T:p.Glu1169Ter	coding	Pathogenic
18	46547262	T	C	T46547262C	LOXHD1	NM_001384474.1(LOXHD1):c.3351-204A>G	noncoding	Benign
18	46557708	T	C	T46557708C	LOXHD1	NM_001384474.1(LOXHD1):c.3217-219A>G	noncoding	Benign
18	46557725	G	C	G46557725C	LOXHD1	NM_001384474.1(LOXHD1):c.3217-236C>G	noncoding	Benign
18	46559258	C	T	C46559258T	LOXHD1	NM_001384474.1(LOXHD1):c.3216+190G>A	coding	Benign
18	46559663	G	A	G46559663A	LOXHD1	NM_001384474.1(LOXHD1):c.3062-61C>T	noncoding	Benign
18	46559877	A	G	A46559877G	LOXHD1	NM_001384474.1(LOXHD1):c.3061+206T>C	noncoding	Benign
18	46559930	A	G	A46559930G	LOXHD1	NM_001384474.1(LOXHD1):c.3061+153T>C	noncoding	Benign
18	46560057	A	C	A46560057C	LOXHD1	NM_001384474.1(LOXHD1):c.3061+26T>G	noncoding	Benign
18	46560070	A	C	A46560070C	LOXHD1	NM_001384474.1(LOXHD1):c.3061+13T>G	noncoding	Benign
18	46560072	G	C	G46560072C	LOXHD1	NM_001384474.1(LOXHD1):c.3061+11C>G	noncoding	Benign
18	46560265	G	T	G46560265T	LOXHD1	NM_001384474.1(LOXHD1):c.2879C>A:p.Ser960Ter	coding	Pathogenic
18	46560281	C	A	C46560281A	LOXHD1	NM_001384474.1(LOXHD1):c.2863G>T:p.Glu955Ter	coding	Pathogenic
18	46560284	C	A	C46560284A	LOXHD1	NM_001384474.1(LOXHD1):c.2860G>T:p.Glu954Ter	coding	Pathogenic
18	46560417	C	T	C46560417T	LOXHD1	NM_001384474.1(LOXHD1):c.2727G>A:p.Thr909=	coding	Benign
18	46560453	C	T	C46560453T	LOXHD1	NM_001384474.1(LOXHD1):c.2691G>A:p.Trp897Ter	coding	Pathogenic
18	46560778	A	G	A46560778G	LOXHD1	NM_001384474.1(LOXHD1):c.2599-233T>C	noncoding	Benign
18	46563067	G	A	G46563067A	LOXHD1	NM_001384474.1(LOXHD1):c.2596C>T:p.Gln866Ter	coding	Pathogenic
18	46566263	G	A	G46566263A	LOXHD1	NM_001384474.1(LOXHD1):c.2431C>T:p.Gln811Ter	coding	Pathogenic
18	46566278	C	A	C46566278A	LOXHD1	NM_001384474.1(LOXHD1):c.2416G>T:p.Glu806Ter	coding	Pathogenic
18	46566293	C	A	C46566293A	LOXHD1	NM_001384474.1(LOXHD1):c.2401G>T:p.Glu801Ter	coding	Pathogenic
18	46566342	G	A	G46566342A	LOXHD1	NM_001384474.1(LOXHD1):c.2352C>T:p.Pro784=	coding	Benign
18	46566365	G	A	G46566365A	LOXHD1	NM_001384474.1(LOXHD1):c.2329C>T:p.Gln777Ter	coding	Pathogenic
18	46566599	T	C	T46566599C	LOXHD1	NM_001384474.1(LOXHD1):c.2245-150A>G	noncoding	Benign
18	46569293	T	G	T46569293G	LOXHD1	NM_001384474.1(LOXHD1):c.2244+149A>C	noncoding	Benign
18	46569740	T	C	T46569740C	LOXHD1	NM_001384474.1(LOXHD1):c.2048-102A>G	noncoding	Benign
18	46571932	T	C	T46571932C	LOXHD1	NM_001384474.1(LOXHD1):c.2047+154A>G	noncoding	Benign
18	46577526	G	T	G46577526T	LOXHD1	NM_001384474.1(LOXHD1):c.1970+181C>A	noncoding	Benign
18	46577543	G	T	G46577543T	LOXHD1	NM_001384474.1(LOXHD1):c.1970+164C>A	noncoding	Benign
18	46591864	G	A	G46591864A	LOXHD1	NM_001384474.1(LOXHD1):c.1654+69C>T	noncoding	Benign
18	46592033	G	T	G46592033T	LOXHD1	NM_001384474.1(LOXHD1):c.1554C>A:p.Tyr518Ter	coding	Pathogenic
18	46592344	G	A	G46592344A	LOXHD1	NM_001384474.1(LOXHD1):c.1518+154C>T	noncoding	Benign
18	46592554	T	A	T46592554A	LOXHD1	NM_001384474.1(LOXHD1):c.1462A>T:p.Lys488Ter	coding	Pathogenic
18	46592770	G	A	G46592770A	LOXHD1	NM_001384474.1(LOXHD1):c.1432-186C>T	noncoding	Benign
18	46593486	A	C	A46593486C	LOXHD1	NM_001384474.1(LOXHD1):c.1431+114T>G	noncoding	Benign
18	46593972	G	A	G46593972A	LOXHD1	NM_001384474.1(LOXHD1):c.1271-212C>T	noncoding	Benign
18	46594365	A	C	A46594365C	LOXHD1	NM_001384474.1(LOXHD1):c.1236T>G:p.Tyr412Ter	coding	Pathogenic
18	46594373	G	A	G46594373A	LOXHD1	NM_001384474.1(LOXHD1):c.1228C>T:p.Gln410Ter	coding	Pathogenic
18	46594433	G	A	G46594433A	LOXHD1	NM_001384474.1(LOXHD1):c.1168C>T:p.Gln390Ter	coding	Pathogenic
18	46594536	G	T	G46594536T	LOXHD1	NM_001384474.1(LOXHD1):c.1135-70C>A	noncoding	Benign
18	46594590	C	T	C46594590T	LOXHD1	NM_001384474.1(LOXHD1):c.1135-124G>A	noncoding	Benign
18	46601330	G	A	G46601330A	LOXHD1	NM_001384474.1(LOXHD1):c.1021C>T:p.Arg341Ter	coding	Pathogenic
18	46601388	A	C	A46601388C	LOXHD1	NM_001384474.1(LOXHD1):c.963T>G:p.Tyr321Ter	coding	Pathogenic
18	46601633	G	A	G46601633A	LOXHD1	NM_001384474.1(LOXHD1):c.884-166C>T	noncoding	Benign
18	46601685	G	A	G46601685A	LOXHD1	NM_001384474.1(LOXHD1):c.884-218C>T	noncoding	Benign
18	46610778	G	A	G46610778A	LOXHD1	NM_001384474.1(LOXHD1):c.757C>T:p.Gln253Ter	coding	Pathogenic
18	46639451	A	G	A46639451G	LOXHD1	NM_001384474.1(LOXHD1):c.511+165T>C	noncoding	Benign
18	46648996	A	G	A46648996G	LOXHD1	NM_001384474.1(LOXHD1):c.245+159T>C	noncoding	Benign
18	46656829	C	T	C46656829T	LOXHD1	NM_001384474.1(LOXHD1):c.130+75G>A	noncoding	Benign
18	46657135	C	T	C46657135T	LOXHD1	NM_001384474.1(LOXHD1):c.-102G>A	noncoding	Benign
18	47067087	T	G	T47067087G	KATNAL2	NM_001387690.1(KATNAL2):c.793T>G:p.Leu265Val	coding	Benign
18	47176347	C	A	C47176347A	IER3IP1	NM_016097.5(IER3IP1):c.-70G>T	noncoding	Benign
18	47841862	C	T	C47841862T	SMAD2	NM_005901.6(SMAD2):c.1369G>A:p.Gly457Arg	coding	Pathogenic
18	47841885	A	G	A47841885G	SMAD2	NM_005901.6(SMAD2):c.1346T>C:p.Leu449Ser	coding	Pathogenic
18	47841964	T	C	T47841964C	SMAD2	NM_005901.6(SMAD2):c.1281-14A>G	noncoding	Benign
18	47842086	C	T	C47842086T	SMAD2	NM_005901.6(SMAD2):c.1281-136G>A	noncoding	Benign
18	47842216	G	A	G47842216A	SMAD2	NM_005901.6(SMAD2):c.1281-266C>T	noncoding	Benign
18	47845138	C	T	C47845138T	SMAD2	NM_005901.6(SMAD2):c.1280+202G>A	noncoding	Benign
18	47845315	T	C	T47845315C	SMAD2	NM_005901.6(SMAD2):c.1280+25A>G	noncoding	Benign
18	47845324	A	G	A47845324G	SMAD2	NM_005901.6(SMAD2):c.1280+16T>C	noncoding	Benign
18	47845403	T	C	T47845403C	SMAD2	NM_005901.6(SMAD2):c.1217A>G:p.Tyr406Cys	coding	Pathogenic
18	47845444	A	G	A47845444G	SMAD2	NM_005901.6(SMAD2):c.1176T>C:p.Ala392=	coding	Benign/Likely_benign
18	47845457	T	C	T47845457C	SMAD2	NM_005901.6(SMAD2):c.1163A>G:p.Gln388Arg	coding	Pathogenic
18	47845716	T	G	T47845716G	SMAD2	NM_005901.6(SMAD2):c.1082A>C:p.Asn361Thr	coding	Pathogenic
18	47845818	T	C	T47845818C	SMAD2	NM_005901.6(SMAD2):c.998-18A>G	noncoding	Benign
18	47848457	A	C	A47848457C	SMAD2	NM_005901.6(SMAD2):c.997+18T>G	noncoding	Benign/Likely_benign
18	47848464	A	G	A47848464G	SMAD2	NM_005901.6(SMAD2):c.997+11T>C	noncoding	Benign
18	47848500	C	T	C47848500T	SMAD2	NM_005901.6(SMAD2):c.972G>A:p.Thr324=	coding	Benign/Likely_benign
18	47848639	G	A	G47848639A	SMAD2	NM_005901.6(SMAD2):c.833C>T:p.Ala278Val	coding	Pathogenic
18	47848650	C	G	C47848650G	SMAD2	NM_005901.6(SMAD2):c.822G>C:p.Trp274Cys	coding	Pathogenic
18	47848683	T	C	T47848683C	SMAD2	NM_005901.6(SMAD2):c.789A>G:p.Leu263=	coding	Benign/Likely_benign
18	47851273	C	T	C47851273T	SMAD2	NM_005901.6(SMAD2):c.784+1G>A	noncoding	Pathogenic
18	47851511	G	C	G47851511C	SMAD2	NM_005901.6(SMAD2):c.731-184C>G	noncoding	Benign
18	47865048	A	T	A47865048T	SMAD2	NM_005901.6(SMAD2):c.730+11T>A	noncoding	Benign/Likely_benign
18	47865368	T	C	T47865368C	SMAD2	NM_005901.6(SMAD2):c.656-235A>G	noncoding	Benign
18	47868230	A	T	A47868230T	SMAD2	NM_005901.6(SMAD2):c.655+93T>A	noncoding	Benign
18	47868434	G	A	G47868434A	SMAD2	NM_005901.6(SMAD2):c.544C>T:p.Arg182Ter	coding	Pathogenic
18	47868548	T	C	T47868548C	SMAD2	NM_005901.6(SMAD2):c.521-91A>G	noncoding	Benign
18	47868740	G	C	G47868740C	SMAD2	NM_005901.6(SMAD2):c.521-283C>G	noncoding	Benign
18	47869084	A	T	A47869084T	SMAD2	NM_005901.6(SMAD2):c.520+159T>A	noncoding	Benign
18	47869238	C	T	C47869238T	SMAD2	NM_005901.6(SMAD2):c.520+5G>A	noncoding	Benign/Likely_benign
18	47870576	T	C	T47870576C	SMAD2	NM_005901.6(SMAD2):c.237-12A>G	noncoding	Pathogenic
18	47896511	C	A	C47896511A	SMAD2	NM_005901.6(SMAD2):c.236+10G>T	noncoding	Benign
18	47896956	T	C	T47896956C	SMAD2	NM_005901.6(SMAD2):c.-53-147A>G	noncoding	Benign
18	48029458	T	C	T48029458C	ZBTB7C	NM_001318841.2(ZBTB7C):c.1662A>G:p.Thr554=	coding	Benign
18	49044234	C	T	C49044234T	DYM	NM_001353214.3(DYM):c.2026-30G>A	noncoding	Benign
18	49044292	C	T	C49044292T	DYM	NM_001353214.3(DYM):c.2026-88G>A	noncoding	Benign
18	49044334	A	G	A49044334G	DYM	NM_001353214.3(DYM):c.2026-130T>C	noncoding	Benign
18	49044502	C	G	C49044502G	DYM	NM_001353214.3(DYM):c.2026-298G>C	noncoding	Benign
18	49097513	C	G	C49097513G	DYM	NM_001353214.3(DYM):c.1914G>C:p.Val638=	coding	Benign/Likely_benign
18	49118893	G	A	G49118893A	DYM	NM_001353214.3(DYM):c.1762C>T:p.Arg588Ter	coding	Pathogenic
18	49119004	C	G	C49119004G	DYM	NM_001353214.3(DYM):c.1729-78G>C	noncoding	Benign
18	49163507	G	A	G49163507A	DYM	NM_001353214.3(DYM):c.1728+178C>T	noncoding	Benign
18	49163683	A	G	A49163683G	DYM	NM_001353214.3(DYM):c.1728+2T>C	noncoding	Pathogenic/Likely_pathogenic
18	49164090	G	A	G49164090A	DYM	NM_001353214.3(DYM):c.1626-303C>T	noncoding	Benign
18	49164091	A	C	A49164091C	DYM	NM_001353214.3(DYM):c.1626-304T>G	noncoding	Benign
18	49257278	T	A	T49257278A	DYM	NM_001353214.3(DYM):c.1366-174A>T	noncoding	Benign
18	49258226	C	T	C49258226T	DYM	NM_001353214.3(DYM):c.1365+154G>A	noncoding	Benign
18	49258263	G	A	G49258263A	DYM	NM_001353214.3(DYM):c.1365+117C>T	noncoding	Benign
18	49272047	A	T	A49272047T	DYM	NM_001353214.3(DYM):c.1251+131T>A	noncoding	Benign
18	49272375	T	A	T49272375A	DYM	NM_001353214.3(DYM):c.1126-72A>T	noncoding	Benign
18	49272527	T	C	T49272527C	DYM	NM_001353214.3(DYM):c.1126-224A>G	noncoding	Benign
18	49331586	T	C	T49331586C	DYM	NM_001353214.3(DYM):c.763+278A>G	noncoding	Benign
18	49331908	G	T	G49331908T	DYM	NM_001353214.3(DYM):c.719C>A:p.Ser240Ter	coding	Pathogenic
18	49331954	G	A	G49331954A	DYM	NM_001353214.3(DYM):c.673C>T:p.Gln225Ter	coding	Pathogenic
18	49332173	T	G	T49332173G	DYM	NM_001353214.3(DYM):c.621-167A>C	noncoding	Benign
18	49334140	A	C	A49334140C	DYM	NM_001353214.3(DYM):c.495-287T>G	noncoding	Benign
18	49363144	G	A	G49363144A	DYM	NM_001353214.3(DYM):c.494+17C>T	noncoding	Benign
18	49363523	C	T	C49363523T	DYM	NM_001353214.3(DYM):c.422-290G>A	noncoding	Benign
18	49378399	G	C	G49378399C	DYM	NM_001353214.3(DYM):c.421+168C>G	noncoding	Benign
18	49378646	C	T	C49378646T	DYM	NM_001353214.3(DYM):c.342G>A:p.Leu114=	coding	Benign/Likely_benign
18	49379676	T	C	T49379676C	DYM	NM_001353214.3(DYM):c.276A>G:p.Ala92=	coding	Benign
18	49430151	C	T	C49430151T	DYM	NM_001353214.3(DYM):c.140+104G>A	noncoding	Benign
18	49430336	A	T	A49430336T	DYM	NM_001353214.3(DYM):c.59T>A:p.Leu20Ter	coding	Pathogenic
18	49562320	C	A	C49562320A	LIPG	NM_006033.4(LIPG):c.12C>A:p.Ser4=	coding	Benign
18	49562371	C	T	C49562371T	LIPG	NM_006033.4(LIPG):c.63C>T:p.Ser21=	coding	Benign
18	49562384	G	A	G49562384A	LIPG	NM_006033.4(LIPG):c.76G>A:p.Gly26Ser	coding	Benign
18	49565334	A	C	A49565334C	LIPG	NM_006033.4(LIPG):c.115A>C:p.Lys39Gln	coding	Benign
18	49565437	C	T	C49565437T	LIPG	NM_006033.4(LIPG):c.218C>T:p.Pro73Leu	coding	Benign
18	49567426	C	G	C49567426G	LIPG	NM_006033.4(LIPG):c.280-16C>G	noncoding	Benign
18	49567494	C	T	C49567494T	LIPG	NM_006033.4(LIPG):c.332C>T:p.Thr111Ile	coding	Benign
18	49569421	T	C	T49569421C	LIPG	NM_006033.4(LIPG):c.460-16T>C	noncoding	Benign
18	49583552	G	C	G49583552C	LIPG	NM_006033.4(LIPG):c.1158-4G>C	noncoding	Benign
18	49583585	A	G	A49583585G	LIPG	NM_006033.4(LIPG):c.1187A>G:p.Asn396Ser	coding	Benign
18	49583792	C	T	C49583792T	LIPG	NM_006033.4(LIPG):c.1376+18C>T	noncoding	Benign
18	49586768	C	T	C49586768T	LIPG	NM_006033.4(LIPG):c.1399C>T:p.Pro467Ser	coding	Benign
18	49835228	C	T	C49835228T	MYO5B	NM_001080467.3(MYO5B):c.5394+116G>A	noncoding	Benign
18	49835441	C	T	C49835441T	MYO5B	NM_001080467.3(MYO5B):c.5314-17G>A	noncoding	Benign
18	49835590	G	T	G49835590T	MYO5B	NM_001080467.3(MYO5B):c.5314-166C>A	noncoding	Benign
18	49836510	T	C	T49836510C	MYO5B	NM_001080467.3(MYO5B):c.5313+201A>G	noncoding	Benign
18	49836639	C	T	C49836639T	MYO5B	NM_001080467.3(MYO5B):c.5313+72G>A	noncoding	Benign
18	49836840	A	T	A49836840T	MYO5B	NM_001080467.3(MYO5B):c.5184T>A:p.Leu1728=	coding	Benign
18	49837499	G	C	G49837499C	MYO5B	NM_001080467.3(MYO5B):c.5138+18C>G	noncoding	Benign
18	49837547	A	G	A49837547G	MYO5B	NM_001080467.3(MYO5B):c.5108T>C:p.Val1703Ala	coding	Benign
18	49838122	C	T	C49838122T	MYO5B	NM_001080467.3(MYO5B):c.4853-320G>A	noncoding	Benign
18	49839311	G	A	G49839311A	MYO5B	NM_001080467.3(MYO5B):c.4702-17C>T	coding	Benign
18	49841166	C	G	C49841166G	MYO5B	NM_001080467.3(MYO5B):c.4701+199G>C	noncoding	Benign
18	49841429	G	A	G49841429A	MYO5B	NM_001080467.3(MYO5B):c.4637C>T:p.Thr1546Met	coding	Benign
18	49841470	G	T	G49841470T	MYO5B	NM_001080467.3(MYO5B):c.4612-16C>A	noncoding	Benign
18	49843393	C	G	C49843393G	MYO5B	NM_001080467.3(MYO5B):c.4460-1G>C	coding	Pathogenic
18	49843417	G	A	G49843417A	MYO5B	NM_001080467.3(MYO5B):c.4460-25C>T	noncoding	Benign
18	49846894	C	A	C49846894A	MYO5B	NM_001080467.3(MYO5B):c.4459+252G>T	noncoding	Benign
18	49847096	G	A	G49847096A	MYO5B	NM_001080467.3(MYO5B):c.4459+50C>T	noncoding	Benign
18	49847239	G	A	G49847239A	MYO5B	NM_001080467.3(MYO5B):c.4366C>T:p.Gln1456Ter	coding	Pathogenic
18	49849733	C	G	C49849733G	MYO5B	NM_001080467.3(MYO5B):c.4222-73G>C	coding	Benign
18	49849758	A	G	A49849758G	MYO5B	NM_001080467.3(MYO5B):c.4222-98T>C	coding	Benign
18	49849792	G	A	G49849792A	MYO5B	NM_001080467.3(MYO5B):c.4222-132C>T	coding	Benign
18	49853544	G	A	G49853544A	MYO5B	NM_001080467.3(MYO5B):c.4126C>T:p.Gln1376Ter	coding	Pathogenic
18	49853580	G	A	G49853580A	MYO5B	NM_001080467.3(MYO5B):c.4090C>T:p.Gln1364Ter	coding	Pathogenic
18	49853642	A	G	A49853642G	MYO5B	NM_001080467.3(MYO5B):c.4028T>C:p.Leu1343Pro	coding	Pathogenic
18	49856874	C	A	C49856874A	MYO5B	NM_001080467.3(MYO5B):c.3961G>T:p.Gly1321Ter	coding	Pathogenic
18	49856931	C	T	C49856931T	MYO5B	NM_001080467.3(MYO5B):c.3945-41G>A	noncoding	Benign
18	49863298	C	T	C49863298T	MYO5B	NM_001080467.3(MYO5B):c.3873G>A:p.Trp1291Ter	coding	Pathogenic
18	49864435	C	T	C49864435T	MYO5B	NM_001080467.3(MYO5B):c.3604-55G>A	noncoding	Benign
18	49864655	T	G	T49864655G	MYO5B	NM_001080467.3(MYO5B):c.3604-275A>C	noncoding	Benign
18	49871884	A	G	A49871884G	MYO5B	NM_001080467.3(MYO5B):c.3603+283T>C	noncoding	Benign
18	49872134	T	C	T49872134C	MYO5B	NM_001080467.3(MYO5B):c.3603+33A>G	noncoding	Benign
18	49872233	C	T	C49872233T	MYO5B	NM_001080467.3(MYO5B):c.3538-1G>A	coding	Pathogenic
18	49872417	G	C	G49872417C	MYO5B	NM_001080467.3(MYO5B):c.3538-185C>G	noncoding	Benign
18	49875409	A	T	A49875409T	MYO5B	NM_001080467.3(MYO5B):c.3537+278T>A	noncoding	Benign
18	49875465	A	G	A49875465G	MYO5B	NM_001080467.3(MYO5B):c.3537+222T>C	noncoding	Benign
18	49875565	C	T	C49875565T	MYO5B	NM_001080467.3(MYO5B):c.3537+122G>A	noncoding	Benign
18	49875629	A	T	A49875629T	MYO5B	NM_001080467.3(MYO5B):c.3537+58T>A	noncoding	Benign
18	49875844	G	A	G49875844A	MYO5B	NM_001080467.3(MYO5B):c.3397-17C>T	noncoding	Benign
18	49875910	A	C	A49875910C	MYO5B	NM_001080467.3(MYO5B):c.3397-83T>G	noncoding	Benign
18	49876118	A	G	A49876118G	MYO5B	NM_001080467.3(MYO5B):c.3397-291T>C	noncoding	Benign
18	49877499	A	C	A49877499C	MYO5B	NM_001080467.3(MYO5B):c.3396+264T>G	noncoding	Benign
18	49877541	T	C	T49877541C	MYO5B	NM_001080467.3(MYO5B):c.3396+222A>G	noncoding	Benign
18	49877639	A	T	A49877639T	MYO5B	NM_001080467.3(MYO5B):c.3396+124T>A	noncoding	Benign
18	49877784	C	T	C49877784T	MYO5B	NM_001080467.3(MYO5B):c.3375G>A:p.Glu1125=	coding	Benign
18	49877884	T	C	T49877884C	MYO5B	NM_001080467.3(MYO5B):c.3277-2A>G	noncoding	Pathogenic/Likely_pathogenic
18	49878029	A	G	A49878029G	MYO5B	NM_001080467.3(MYO5B):c.3277-147T>C	noncoding	Benign
18	49878649	A	T	A49878649T	MYO5B	NM_001080467.3(MYO5B):c.3276+296T>A	noncoding	Benign
18	49878828	C	T	C49878828T	MYO5B	NM_001080467.3(MYO5B):c.3276+117G>A	noncoding	Benign
18	49879031	G	A	G49879031A	MYO5B	NM_001080467.3(MYO5B):c.3190C>T:p.Arg1064Ter	coding	Pathogenic
18	49879155	T	C	T49879155C	MYO5B	NM_001080467.3(MYO5B):c.3131-65A>G	noncoding	Benign
18	49879160	C	T	C49879160T	MYO5B	NM_001080467.3(MYO5B):c.3131-70G>A	noncoding	Benign
18	49880543	A	G	A49880543G	MYO5B	NM_001080467.3(MYO5B):c.3046-88T>C	noncoding	Benign
18	49880568	T	C	T49880568C	MYO5B	NM_001080467.3(MYO5B):c.3046-113A>G	noncoding	Benign
18	49880573	T	G	T49880573G	MYO5B	NM_001080467.3(MYO5B):c.3046-118A>C	noncoding	Benign
18	49902703	C	T	C49902703T	MYO5B	NM_001080467.3(MYO5B):c.2702G>A:p.Arg901Gln	coding	Benign/Likely_benign
18	49902764	G	A	G49902764A	MYO5B	NM_001080467.3(MYO5B):c.2641C>T:p.Gln881Ter	coding	Pathogenic
18	49904688	C	T	C49904688T	MYO5B	NM_001080467.3(MYO5B):c.2555G>A:p.Arg852Gln	coding	Benign
18	49905126	C	T	C49905126T	MYO5B	NM_001080467.3(MYO5B):c.2415-298G>A	noncoding	Benign
18	49906414	C	A	C49906414A	MYO5B	NM_001080467.3(MYO5B):c.2414+5G>T	noncoding	Pathogenic
18	49906643	G	C	G49906643C	MYO5B	NM_001080467.3(MYO5B):c.2203-13C>G	noncoding	Benign
18	49912191	G	T	G49912191T	MYO5B	NM_001080467.3(MYO5B):c.2091-18C>A	noncoding	Benign
18	49912192	G	A	G49912192A	MYO5B	NM_001080467.3(MYO5B):c.2091-19C>T	noncoding	Benign
18	49912290	C	T	C49912290T	MYO5B	NM_001080467.3(MYO5B):c.2091-117G>A	noncoding	Benign
18	49929228	T	C	T49929228C	MYO5B	NM_001080467.3(MYO5B):c.2090+284A>G	noncoding	Benign
18	49929348	T	C	T49929348C	MYO5B	NM_001080467.3(MYO5B):c.2090+164A>G	noncoding	Benign
18	49929413	T	C	T49929413C	MYO5B	NM_001080467.3(MYO5B):c.2090+99A>G	noncoding	Benign
18	49929486	A	G	A49929486G	MYO5B	NM_001080467.3(MYO5B):c.2090+26T>C	noncoding	Benign
18	49929540	G	A	G49929540A	MYO5B	NM_001080467.3(MYO5B):c.2062C>T:p.Arg688Ter	coding	Pathogenic
18	49936272	G	A	G49936272A	MYO5B	NM_001080467.3(MYO5B):c.1983C>T:p.Asn661=	coding	Benign
18	49936434	G	A	G49936434A	MYO5B	NM_001080467.3(MYO5B):c.1906-85C>T	noncoding	Benign
18	49936589	C	G	C49936589G	MYO5B	NM_001080467.3(MYO5B):c.1906-240G>C	noncoding	Benign
18	49936589	C	T	C49936589T	MYO5B	NM_001080467.3(MYO5B):c.1906-240G>A	noncoding	Benign
18	49936989	G	A	G49936989A	MYO5B	NM_001080467.3(MYO5B):c.1905+256C>T	noncoding	Benign
18	49937007	C	T	C49937007T	MYO5B	NM_001080467.3(MYO5B):c.1905+238G>A	noncoding	Benign
18	49937217	A	G	A49937217G	MYO5B	NM_001080467.3(MYO5B):c.1905+28T>C	noncoding	Benign
18	49937502	A	G	A49937502G	MYO5B	NM_001080467.3(MYO5B):c.1753-105T>C	noncoding	Benign
18	49953121	G	A	G49953121A	MYO5B	NM_001080467.3(MYO5B):c.1752+139C>T	noncoding	Benign
18	49953292	C	A	C49953292A	MYO5B	NM_001080467.3(MYO5B):c.1720G>T:p.Glu574Ter	coding	Pathogenic
18	49954137	A	C	A49954137C	MYO5B	NM_001080467.3(MYO5B):c.1668+176T>G	noncoding	Benign
18	49954290	G	A	G49954290A	MYO5B	NM_001080467.3(MYO5B):c.1668+23C>T	noncoding	Benign
18	49954399	G	A	G49954399A	MYO5B	NM_001080467.3(MYO5B):c.1582C>T:p.Leu528Phe	coding	Pathogenic
18	49954528	T	C	T49954528C	MYO5B	NM_001080467.3(MYO5B):c.1546-93A>G	noncoding	Benign
18	49954615	G	A	G49954615A	MYO5B	NM_001080467.3(MYO5B):c.1546-180C>T	noncoding	Benign
18	49954617	C	T	C49954617T	MYO5B	NM_001080467.3(MYO5B):c.1546-182G>A	noncoding	Benign
18	49954668	G	A	G49954668A	MYO5B	NM_001080467.3(MYO5B):c.1546-233C>T	noncoding	Benign
18	49954764	G	A	G49954764A	MYO5B	NM_001080467.3(MYO5B):c.1546-329C>T	noncoding	Benign
18	49961975	T	C	T49961975C	MYO5B	NM_001080467.3(MYO5B):c.1545+291A>G	noncoding	Benign
18	49962094	C	T	C49962094T	MYO5B	NM_001080467.3(MYO5B):c.1545+172G>A	noncoding	Benign
18	49962271	A	G	A49962271G	MYO5B	NM_001080467.3(MYO5B):c.1540T>C:p.Cys514Arg	coding	Pathogenic
18	49962322	T	A	T49962322A	MYO5B	NM_001080467.3(MYO5B):c.1489A>T:p.Ile497Phe	coding	Pathogenic
18	49962348	A	G	A49962348G	MYO5B	NM_001080467.3(MYO5B):c.1463T>C:p.Ile488Thr	coding	Pathogenic
18	49962648	T	C	T49962648C	MYO5B	NM_001080467.3(MYO5B):c.1405-242A>G	noncoding	Benign
18	49962700	C	G	C49962700G	MYO5B	NM_001080467.3(MYO5B):c.1404+249G>C	noncoding	Benign
18	49962732	A	G	A49962732G	MYO5B	NM_001080467.3(MYO5B):c.1404+217T>C	noncoding	Benign
18	49963060	G	A	G49963060A	MYO5B	NM_001080467.3(MYO5B):c.1323-30C>T	noncoding	Benign
18	49963110	C	T	C49963110T	MYO5B	NM_001080467.3(MYO5B):c.1323-80G>A	noncoding	Benign
18	49963219	T	G	T49963219G	MYO5B	NM_001080467.3(MYO5B):c.1323-189A>C	noncoding	Benign
18	49974339	G	A	G49974339A	MYO5B	NM_001080467.3(MYO5B):c.1322+11C>T	noncoding	Benign/Likely_benign
18	49974450	T	A	T49974450A	MYO5B	NM_001080467.3(MYO5B):c.1222A>T:p.Ile408Phe	coding	Pathogenic
18	49974585	G	A	G49974585A	MYO5B	NM_001080467.3(MYO5B):c.1087C>T:p.Arg363Ter	coding	Pathogenic
18	49974630	G	A	G49974630A	MYO5B	NM_001080467.3(MYO5B):c.1057-15C>T	noncoding	Benign/Likely_benign
18	49974802	C	G	C49974802G	MYO5B	NM_001080467.3(MYO5B):c.1057-187G>C	noncoding	Benign
18	49980139	A	G	A49980139G	MYO5B	NM_001080467.3(MYO5B):c.1056+305T>C	noncoding	Benign
18	49980150	T	C	T49980150C	MYO5B	NM_001080467.3(MYO5B):c.1056+294A>G	noncoding	Benign
18	49980247	C	T	C49980247T	MYO5B	NM_001080467.3(MYO5B):c.1056+197G>A	noncoding	Benign
18	49980408	T	C	T49980408C	MYO5B	NM_001080467.3(MYO5B):c.1056+36A>G	noncoding	Benign
18	49980479	G	A	G49980479A	MYO5B	NM_001080467.3(MYO5B):c.1021C>T:p.Gln341Ter	coding	Pathogenic
18	49984776	G	A	G49984776A	MYO5B	NM_001080467.3(MYO5B):c.888C>T:p.Ile296=	coding	Benign
18	49990334	C	T	C49990334T	MYO5B	NM_001080467.3(MYO5B):c.838+105G>A	noncoding	Benign
18	49990497	G	A	G49990497A	MYO5B	NM_001080467.3(MYO5B):c.780C>T:p.His260=	coding	Benign
18	49990566	C	G	C49990566G	MYO5B	NM_001080467.3(MYO5B):c.757-46G>C	noncoding	Benign
18	49992047	G	T	G49992047T	MYO5B	NM_001080467.3(MYO5B):c.756+241C>A	noncoding	Benign
18	50001447	T	G	T50001447G	MYO5B	NM_001080467.3(MYO5B):c.456-36A>C	noncoding	Benign
18	50036851	T	C	T50036851C	MYO5B	NM_001080467.3(MYO5B):c.454A>G:p.Arg152Gly	coding	Benign
18	50036949	T	C	T50036949C	MYO5B	NM_001080467.3(MYO5B):c.356A>G:p.Tyr119Cys	coding	Pathogenic
18	50037059	G	A	G50037059A	MYO5B	NM_001080467.3(MYO5B):c.311-65C>T	noncoding	Benign
18	50037164	A	G	A50037164G	MYO5B	NM_001080467.3(MYO5B):c.311-170T>C	noncoding	Benign
18	50040179	G	A	G50040179A	MYO5B	NM_001080467.3(MYO5B):c.274C>T:p.Arg92Cys	coding	Pathogenic
18	50040286	C	A	C50040286A	MYO5B	NM_001080467.3(MYO5B):c.167G>T:p.Arg56Leu	coding	Benign/Likely_benign
18	50055023	T	C	T50055023C	MYO5B	NM_001080467.3(MYO5B):c.138+245A>G	noncoding	Benign
18	50055230	A	C	A50055230C	MYO5B	NM_001080467.3(MYO5B):c.138+38T>G	noncoding	Benign
18	50055248	T	C	T50055248C	MYO5B	NM_001080467.3(MYO5B):c.138+20A>G	noncoding	Benign
18	50055301	G	A	G50055301A	MYO5B	NM_001080467.3(MYO5B):c.105C>T:p.Asp35=	coding	Benign
18	50055380	T	C	T50055380C	MYO5B	NM_001080467.3(MYO5B):c.28-2A>G	noncoding	Pathogenic
18	50055393	C	T	C50055393T	MYO5B	NM_001080467.3(MYO5B):c.28-15G>A	noncoding	Benign
18	50055594	A	G	A50055594G	MYO5B	NM_001080467.3(MYO5B):c.28-216T>C	noncoding	Benign
18	50194534	C	G	C50194534G	MYO5B	NM_001080467.3(MYO5B):c.27+233G>C	noncoding	Benign
18	50195231	A	G	A50195231G	MYO5B	Single_allele	noncoding	Benign
18	50195241	C	G	C50195241G	MYO5B	Single_allele	noncoding	Benign
18	50242899	C	T	C50242899T	CFAP53	NM_145020.5(CFAP53):c.1213+1G>A	noncoding	Pathogenic
18	50250978	T	A	T50250978A	CFAP53	NM_145020.5(CFAP53):c.778-2A>T	noncoding	Pathogenic
18	50273706	G	A	G50273706A	MBD1	NM_015846.4(MBD1):c.1304C>T:p.Thr435Ile	coding	Benign
18	50283881	C	G	C50283881G	CXXC1	NM_014593.4(CXXC1):c.1413+13G>C	noncoding	Benign
18	50283981	A	G	A50283981G	CXXC1	NM_014593.4(CXXC1):c.1326T>C:p.Thr442=	coding	Benign
18	51046270	C	T	C51046270T	SMAD4	NM_005359.6(SMAD4):c.-127-650C>T	noncoding	Benign
18	51046874	C	T	C51046874T	SMAD4	NM_005359.6(SMAD4):c.-127-46C>T	noncoding	Benign
18	51046906	T	C	T51046906C	SMAD4	NM_005359.6(SMAD4):c.-127-14T>C	noncoding	Benign
18	51047130	A	G	A51047130G	SMAD4	NM_005359.6(SMAD4):c.84A>G:p.Gln28=	coding	Benign/Likely_benign
18	51047269	C	T	C51047269T	SMAD4	NM_005359.6(SMAD4):c.223C>T:p.Gln75Ter	coding	Pathogenic
18	51048732	G	A	G51048732A	SMAD4	NM_005359.6(SMAD4):c.296G>A:p.Trp99Ter	coding	Pathogenic
18	51049019	T	C	T51049019C	SMAD4	NM_005359.6(SMAD4):c.424+159T>C	noncoding	Benign
18	51055002	T	C	T51055002C	SMAD4	NM_005359.6(SMAD4):c.667+9T>C	noncoding	Benign/Likely_benign
18	51058182	C	G	C51058182G	SMAD4	NM_005359.6(SMAD4):c.725C>G:p.Ser242Ter	coding	Pathogenic
18	51058190	C	T	C51058190T	SMAD4	NM_005359.6(SMAD4):c.733C>T:p.Gln245Ter	coding	Pathogenic
18	51058199	C	T	C51058199T	SMAD4	NM_005359.6(SMAD4):c.742C>T:p.Gln248Ter	coding	Pathogenic
18	51059974	C	T	C51059974T	SMAD4	NM_005359.6(SMAD4):c.955+58C>T	noncoding	Benign
18	51065392	G	A	G51065392A	SMAD4	NM_005359.6(SMAD4):c.956-31G>A	noncoding	Benign
18	51065435	G	A	G51065435A	SMAD4	NM_005359.6(SMAD4):c.968G>A:p.Trp323Ter	coding	Pathogenic
18	51065436	G	A	G51065436A	SMAD4	NM_005359.6(SMAD4):c.969G>A:p.Trp323Ter	coding	Pathogenic
18	51065526	C	G	C51065526G	SMAD4	NM_005359.6(SMAD4):c.1059C>G:p.Tyr353Ter	coding	Pathogenic
18	51065606	G	A	G51065606A	SMAD4	NM_005359.6(SMAD4):c.1139G>A:p.Arg380Lys	coding	Pathogenic/Likely_pathogenic
18	51065650	T	C	T51065650C	SMAD4	NM_005359.6(SMAD4):c.1139+44T>C	noncoding	Benign
18	51067094	C	T	C51067094T	SMAD4	NM_005359.6(SMAD4):c.1215C>T:p.His405=	coding	Benign/Likely_benign
18	51076637	G	A	G51076637A	SMAD4	NM_005359.6(SMAD4):c.1309-1G>A	noncoding	Pathogenic/Likely_pathogenic
18	52340854	T	C	T52340854C	DCC	NM_005215.4(DCC):c.67T>C:p.Phe23Leu	coding	Benign
18	52752316	G	A	G52752316A	DCC	NM_005215.4(DCC):c.354G>A:p.Glu118=	coding	Benign
18	52923870	T	G	T52923870G	DCC	NM_005215.4(DCC):c.848+13T>G	noncoding	Benign
18	53305732	A	G	A53305732G	DCC	NM_005215.4(DCC):c.2053+13A>G	noncoding	Benign
18	53339814	C	T	C53339814T	DCC	NM_005215.4(DCC):c.2266C>T:p.Arg756Ter	coding	Pathogenic
18	53410589	C	T	C53410589T	DCC	NM_005215.4(DCC):c.3073C>T:p.Arg1025Ter	coding	Pathogenic
18	53410624	T	C	T53410624C	DCC	NM_005215.4(DCC):c.3108T>C:p.Pro1036=	coding	Benign
18	53410656	A	G	A53410656G	DCC	NM_005215.4(DCC):c.3130+10A>G	noncoding	Benign
18	53467956	C	T	C53467956T	DCC	NM_005215.4(DCC):c.3682C>T:p.Arg1228Ter	coding	Pathogenic
18	55228187	G	A	G55228187A	TCF4	NM_001083962.2(TCF4):c.*4+34C>T	noncoding	Benign
18	55228272	G	C	G55228272C	TCF4	NM_001083962.2(TCF4):c.1969C>G:p.Pro657Ala	coding	Benign
18	55228846	C	A	C55228846A	TCF4	NM_001083962.2(TCF4):c.1879+1G>T	noncoding	Pathogenic
18	55228877	C	T	C55228877T	TCF4	NM_001083962.2(TCF4):c.1849G>A:p.Val617Ile	coding	Pathogenic
18	55228894	A	G	A55228894G	TCF4	NM_001083962.2(TCF4):c.1832T>C:p.Leu611Pro	coding	Pathogenic
18	55228895	G	C	G55228895C	TCF4	NM_001083962.2(TCF4):c.1831C>G:p.Leu611Val	coding	Pathogenic
18	55228909	G	A	G55228909A	TCF4	NM_001083962.2(TCF4):c.1817C>T:p.Thr606Ile	coding	Pathogenic
18	55228994	G	A	G55228994A	TCF4	NM_001083962.2(TCF4):c.1732C>T:p.Arg578Cys	coding	Pathogenic
18	55229063	C	A	C55229063A	TCF4	NM_001083962.2(TCF4):c.1663G>T:p.Glu555Ter	coding	Pathogenic
18	55232581	G	A	G55232581A	TCF4	NM_001083962.2(TCF4):c.1577C>T:p.Thr526Met	coding	Benign/Likely_benign
18	55232654	G	A	G55232654A	TCF4	NM_001083962.2(TCF4):c.1504C>T:p.Gln502Ter	coding	Pathogenic
18	55234542	A	G	A55234542G	TCF4	NM_001083962.2(TCF4):c.1486+6T>C	noncoding	Benign/Likely_benign
18	55234548	C	T	C55234548T	TCF4	NM_001083962.2(TCF4):c.1486G>A:p.Gly496Ser	coding	Pathogenic
18	55254498	A	G	A55254498G	TCF4	NM_001083962.2(TCF4):c.1349T>C:p.Met450Thr	coding	Benign
18	55254616	T	C	T55254616C	TCF4	NM_001083962.2(TCF4):c.1231A>G:p.Met411Val	coding	Benign
18	55254676	C	A	C55254676A	TCF4	NM_001083962.2(TCF4):c.1171G>T:p.Glu391Ter	coding	Pathogenic
18	55254776	C	T	C55254776T	TCF4	NM_001083962.2(TCF4):c.1147-76G>A	noncoding	Benign
18	55257396	T	C	T55257396C	TCF4	NM_001083962.2(TCF4):c.1070-5A>G	noncoding	Benign
18	55258897	C	T	C55258897T	TCF4	NM_001083962.2(TCF4):c.1069+1052G>A	noncoding	Pathogenic
18	55259919	T	C	T55259919C	TCF4	NM_001083962.2(TCF4):c.1069+30A>G	noncoding	Benign
18	55261274	G	A	G55261274A	TCF4	NM_001083962.2(TCF4):c.990+192C>T	noncoding	Benign
18	55261454	A	G	A55261454G	TCF4	NM_001083962.2(TCF4):c.990+12T>C	noncoding	Benign
18	55261465	C	A	C55261465A	TCF4	NM_001083962.2(TCF4):c.990+1G>T	noncoding	Pathogenic
18	55269826	C	T	C55269826T	TCF4	NM_001083962.2(TCF4):c.922+5G>A	noncoding	Pathogenic
18	55350360	G	C	G55350360C	TCF4	NM_001083962.2(TCF4):c.548C>G:p.Ser183Ter	coding	Pathogenic
18	55350404	T	C	T55350404C	TCF4	NM_001083962.2(TCF4):c.504A>G:p.Val168=	coding	Benign
18	55350932	C	G	C55350932G	TCF4	NM_001083962.2(TCF4):c.441G>C:p.Gln147His	coding	Benign
18	55403442	A	C	A55403442C	TCF4	NM_001083962.2(TCF4):c.369+12T>G	noncoding	Benign/Likely_benign
18	55403462	A	C	A55403462C	TCF4	NM_001083962.2(TCF4):c.361T>G:p.Cys121Gly	coding	Benign
18	55403493	T	G	T55403493G	TCF4	NM_001083962.2(TCF4):c.330A>C:p.Ser110=	coding	Benign/Likely_benign
18	55403496	G	T	G55403496T	TCF4	NM_001083962.2(TCF4):c.327C>A:p.Tyr109Ter	coding	Pathogenic
18	55403501	A	T	A55403501T	TCF4	NM_001083962.2(TCF4):c.322T>A:p.Ser108Thr	coding	Benign
18	55461237	G	T	G55461237T	TCF4	NM_001083962.2(TCF4):c.208-122C>A	noncoding	Benign
18	55464148	G	C	G55464148C	TCF4	NM_001083962.2(TCF4):c.146-11C>G	noncoding	Benign/Likely_benign
18	55464257	C	A	C55464257A	TCF4	NM_001083962.2(TCF4):c.146-120G>T	noncoding	Benign
18	55585157	G	A	G55585157A	TCF4	NM_001083962.2(TCF4):c.145+123C>T	noncoding	Benign
18	55631297	C	T	C55631297T	TCF4	NM_001243226.3(TCF4):c.286+1G>A	noncoding	Pathogenic
18	57550907	C	T	C57550907T	FECH	NM_000140.5(FECH):c.1138-61G>A	noncoding	Benign
18	57554008	A	G	A57554008G	FECH	NM_000140.5(FECH):c.1077+252T>C	noncoding	Benign
18	57554225	G	A	G57554225A	FECH	NM_000140.5(FECH):c.1077+35C>T	noncoding	Benign
18	57554336	G	A	G57554336A	FECH	NM_000140.5(FECH):c.1001C>T:p.Pro334Leu	coding	Pathogenic/Likely_pathogenic
18	57554467	T	G	T57554467G	FECH	NM_000140.5(FECH):c.913-43A>C	noncoding	Benign
18	57554751	A	T	A57554751T	FECH	NM_000140.5(FECH):c.912+94T>A	noncoding	Benign
18	57554865	G	A	G57554865A	FECH	NM_000140.5(FECH):c.892C>T:p.Arg298Ter	coding	Pathogenic
18	57554903	T	C	T57554903C	FECH	NM_000140.5(FECH):c.854A>G:p.Gln285Arg	coding	Pathogenic/Likely_pathogenic
18	57559022	T	C	T57559022C	FECH	NM_000140.5(FECH):c.804+123A>G	noncoding	Benign
18	57559441	A	G	A57559441G	FECH	NM_000140.5(FECH):c.706-198T>C	noncoding	Benign
18	57562663	T	C	T57562663C	FECH	NM_000140.5(FECH):c.705+211A>G	noncoding	Benign
18	57562855	C	G	C57562855G	FECH	NM_000140.5(FECH):c.705+19G>C	noncoding	Benign
18	57562899	C	T	C57562899T	FECH	NM_000140.5(FECH):c.680G>A:p.Trp227Ter	coding	Pathogenic
18	57562952	G	T	G57562952T	FECH	NM_000140.5(FECH):c.627C>A:p.Tyr209Ter	coding	Pathogenic
18	57563092	G	C	G57563092C	FECH	NM_000140.5(FECH):c.599-112C>G	noncoding	Benign
18	57563235	C	T	C57563235T	FECH	NM_000140.5(FECH):c.599-255G>A	noncoding	Benign
18	57566146	C	T	C57566146T	FECH	NM_000140.5(FECH):c.598+301G>A	noncoding	Benign
18	57566880	T	A	T57566880A	FECH	NM_000140.5(FECH):c.464-299A>T	noncoding	Benign
18	57571349	G	A	G57571349A	FECH	NM_000140.5(FECH):c.463+43C>T	noncoding	Benign
18	57571391	C	G	C57571391G	FECH	NM_000140.5(FECH):c.463+1G>C	noncoding	Pathogenic
18	57571819	A	C	A57571819C	FECH	NM_000140.5(FECH):c.315-279T>G	noncoding	Benign
18	57573223	T	C	T57573223C	FECH	NM_000140.5(FECH):c.314+23A>G	noncoding	Benign
18	57573269	G	A	G57573269A	FECH	NM_000140.5(FECH):c.291C>T:p.Asp97=	coding	Benign
18	57573274	G	A	G57573274A	FECH	NM_000140.5(FECH):c.286C>T:p.Arg96Ter	coding	Pathogenic
18	57573476	T	C	T57573476C	FECH	NM_000140.5(FECH):c.195-111A>G	noncoding	Benign
18	57579767	G	A	G57579767A	FECH	NM_000140.5(FECH):c.194+306C>T	noncoding	Benign
18	57579886	C	T	C57579886T	FECH	NM_000140.5(FECH):c.194+187G>A	noncoding	Benign
18	57580030	G	A	G57580030A	FECH	NM_000140.5(FECH):c.194+43C>T	noncoding	Benign
18	57580084	T	C	T57580084C	FECH	NM_000140.5(FECH):c.183A>G:p.Gln61=	coding	Benign
18	57580092	G	A	G57580092A	FECH	NM_000140.5(FECH):c.175C>T:p.Gln59Ter	coding	Pathogenic
18	57586478	G	A	G57586478A	FECH	NM_000140.5(FECH):c.67+76C>T	noncoding	Benign
18	57586587	G	A	G57586587A	FECH	NM_000140.5(FECH):c.34C>T:p.Leu12=	coding	Benign
18	57586871	C	G	C57586871G	FECH	NC_000018.9:g.55254103C>G	noncoding	Pathogenic
18	57601634	C	T	C57601634T	NARS1	NM_004539.4(NARS1):c.*18G>A	noncoding	Benign
18	57650444	C	T	C57650444T	ATP8B1	NM_001374385.1(ATP8B1):c.3454G>A:p.Ala1152Thr	coding	Benign
18	57652212	G	A	G57652212A	ATP8B1	NM_001374385.1(ATP8B1):c.3262-40C>T	noncoding	Benign
18	57652240	A	C	A57652240C	ATP8B1	NM_001374385.1(ATP8B1):c.3262-68T>G	noncoding	Benign
18	57652328	T	C	T57652328C	ATP8B1	NM_001374385.1(ATP8B1):c.3261+156A>G	noncoding	Benign
18	57652705	G	A	G57652705A	ATP8B1	NM_001374385.1(ATP8B1):c.3040C>T:p.Arg1014Ter	coding	Pathogenic
18	57653844	A	G	A57653844G	ATP8B1	NM_001374385.1(ATP8B1):c.3015+148T>C	noncoding	Benign
18	57655135	A	T	A57655135T	ATP8B1	NM_001374385.1(ATP8B1):c.2931+59T>A	noncoding	Benign
18	57655304	G	A	G57655304A	ATP8B1	NM_001374385.1(ATP8B1):c.2821C>T:p.Arg941Ter	coding	Pathogenic
18	57662178	C	T	C57662178T	ATP8B1	NM_001374385.1(ATP8B1):c.2418+305G>A	noncoding	Benign
18	57662180	C	T	C57662180T	ATP8B1	NM_001374385.1(ATP8B1):c.2418+303G>A	noncoding	Benign
18	57666874	G	T	G57666874T	ATP8B1	NM_001374385.1(ATP8B1):c.2285+218C>A	noncoding	Benign
18	57667063	G	A	G57667063A	ATP8B1	NM_001374385.1(ATP8B1):c.2285+29C>T	noncoding	Benign
18	57667281	A	G	A57667281G	ATP8B1	NM_001374385.1(ATP8B1):c.2210-114T>C	noncoding	Benign
18	57667295	A	G	A57667295G	ATP8B1	NM_001374385.1(ATP8B1):c.2210-128T>C	noncoding	Benign
18	57668134	G	T	G57668134T	ATP8B1	NM_001374385.1(ATP8B1):c.2209+295C>A	coding	Benign
18	57668180	A	G	A57668180G	ATP8B1	NM_001374385.1(ATP8B1):c.2209+249T>C	coding	Benign
18	57668263	A	G	A57668263G	ATP8B1	NM_001374385.1(ATP8B1):c.2209+166T>C	coding	Benign
18	57668318	A	C	A57668318C	ATP8B1	NM_001374385.1(ATP8B1):c.2209+111T>G	coding	Benign
18	57668571	G	A	G57668571A	ATP8B1	NM_001374385.1(ATP8B1):c.2098-31C>T	coding	Benign
18	57668572	G	A	G57668572A	ATP8B1	NM_001374385.1(ATP8B1):c.2098-32C>T	coding	Benign
18	57668715	G	A	G57668715A	ATP8B1	NM_001374385.1(ATP8B1):c.2098-175C>T	coding	Benign
18	57668728	C	G	C57668728G	ATP8B1	NM_001374385.1(ATP8B1):c.2098-188G>C	coding	Benign
18	57668849	A	G	A57668849G	ATP8B1	NM_001374385.1(ATP8B1):c.2098-309T>C	coding	Benign
18	57669021	G	C	G57669021C	ATP8B1	NM_001374385.1(ATP8B1):c.2097+297C>G	coding	Benign
18	57669229	A	G	A57669229G	ATP8B1	NM_001374385.1(ATP8B1):c.2097+89T>C	coding	Benign
18	57669642	G	A	G57669642A	ATP8B1	NM_001374385.1(ATP8B1):c.1933-160C>T	noncoding	Benign
18	57671191	C	T	C57671191T	ATP8B1	NM_001374385.1(ATP8B1):c.1932+277G>A	noncoding	Benign
18	57671228	A	G	A57671228G	ATP8B1	NM_001374385.1(ATP8B1):c.1932+240T>C	noncoding	Benign
18	57671424	G	A	G57671424A	ATP8B1	NM_001374385.1(ATP8B1):c.1932+44C>T	noncoding	Benign
18	57671509	G	A	G57671509A	ATP8B1	NM_001374385.1(ATP8B1):c.1891C>T:p.Arg631Ter	coding	Pathogenic
18	57671634	A	T	A57671634T	ATP8B1	NM_001374385.1(ATP8B1):c.1820-54T>A	noncoding	Benign
18	57675277	C	T	C57675277T	ATP8B1	NM_001374385.1(ATP8B1):c.1631-255G>A	noncoding	Benign
18	57684093	G	A	G57684093A	ATP8B1	NM_001374385.1(ATP8B1):c.1573C>T:p.Arg525Ter	coding	Pathogenic
18	57685157	T	C	T57685157C	ATP8B1	NM_001374385.1(ATP8B1):c.1430-42A>G	noncoding	Benign
18	57685204	G	A	G57685204A	ATP8B1	NM_001374385.1(ATP8B1):c.1430-89C>T	noncoding	Benign
18	57685333	G	T	G57685333T	ATP8B1	NM_001374385.1(ATP8B1):c.1430-218C>A	noncoding	Benign
18	57688185	C	T	C57688185T	ATP8B1	NM_001374385.1(ATP8B1):c.1429+114G>A	noncoding	Benign
18	57688250	C	T	C57688250T	ATP8B1	NM_001374385.1(ATP8B1):c.1429+49G>A	noncoding	Benign
18	57688590	G	A	G57688590A	ATP8B1	NM_001374385.1(ATP8B1):c.1221-83C>T	noncoding	Benign
18	57691685	G	A	G57691685A	ATP8B1	NM_001374385.1(ATP8B1):c.1220+122C>T	noncoding	Benign
18	57692082	A	G	A57692082G	ATP8B1	NM_001374385.1(ATP8B1):c.1030-85T>C	noncoding	Benign
18	57692142	C	T	C57692142T	ATP8B1	NM_001374385.1(ATP8B1):c.1030-145G>A	noncoding	Benign
18	57692180	A	G	A57692180G	ATP8B1	NM_001374385.1(ATP8B1):c.1030-183T>C	noncoding	Benign
18	57694337	G	A	G57694337A	ATP8B1	NM_001374385.1(ATP8B1):c.1029+245C>T	noncoding	Benign
18	57694519	G	A	G57694519A	ATP8B1	NM_001374385.1(ATP8B1):c.1029+63C>T	noncoding	Benign
18	57694582	C	T	C57694582T	ATP8B1	NM_001374385.1(ATP8B1):c.1029G>A:p.Thr343=	coding	Pathogenic
18	57695584	G	A	G57695584A	ATP8B1	NM_001374385.1(ATP8B1):c.699-52C>T	noncoding	Benign
18	57698034	T	C	T57698034C	ATP8B1	NM_001374385.1(ATP8B1):c.555-167A>G	noncoding	Benign
18	57698130	G	A	G57698130A	ATP8B1	NM_001374385.1(ATP8B1):c.555-263C>T	noncoding	Benign
18	57701515	G	A	G57701515A	ATP8B1	NM_001374385.1(ATP8B1):c.394-202C>T	noncoding	Benign
18	57704297	C	G	C57704297G	ATP8B1	NM_001374385.1(ATP8B1):c.393+258G>C	noncoding	Benign
18	57706361	A	G	A57706361G	ATP8B1	NM_001374385.1(ATP8B1):c.279+129T>C	noncoding	Benign
18	57706659	C	T	C57706659T	ATP8B1	NM_001374385.1(ATP8B1):c.182-72G>A	noncoding	Benign
18	57731370	T	C	T57731370C	ATP8B1	NM_001374385.1(ATP8B1):c.181+257A>G	noncoding	Benign
18	57731372	T	C	T57731372C	ATP8B1	NM_001374385.1(ATP8B1):c.181+255A>G	noncoding	Benign
18	57731374	T	C	T57731374C	ATP8B1	NM_001374385.1(ATP8B1):c.181+253A>G	noncoding	Benign
18	57731524	T	C	T57731524C	ATP8B1	NM_001374385.1(ATP8B1):c.181+103A>G	noncoding	Benign
18	57731985	G	A	G57731985A	ATP8B1	NM_001374385.1(ATP8B1):c.-25-153C>T	noncoding	Benign
18	57732036	T	A	T57732036A	ATP8B1	NM_001374385.1(ATP8B1):c.-25-204A>T	noncoding	Benign
18	57732099	A	G	A57732099G	ATP8B1	NM_001374385.1(ATP8B1):c.-25-267T>C	noncoding	Benign
18	57803261	G	C	G57803261C	ATP8B1	NM_001374385.1(ATP8B1):c.-289C>G	noncoding	Benign
18	58044064	C	A	C58044064A	NEDD4L	Single_allele	noncoding	Benign
18	58044122	G	C	G58044122C	NEDD4L	Single_allele	noncoding	Benign
18	58044386	T	G	T58044386G	NEDD4L	NM_001144967.3(NEDD4L):c.-275T>G	noncoding	Benign
18	58044434	C	T	C58044434T	NEDD4L	NM_001144967.3(NEDD4L):c.-227C>T	noncoding	Benign
18	58044615	C	T	C58044615T	NEDD4L	NM_001144967.3(NEDD4L):c.-46C>T	noncoding	Benign
18	58044635	C	T	C58044635T	NEDD4L	NM_001144967.3(NEDD4L):c.-26C>T	noncoding	Benign
18	58044722	C	T	C58044722T	NEDD4L	NM_001144967.3(NEDD4L):c.48+14C>T	noncoding	Benign
18	58044736	A	C	A58044736C	NEDD4L	NM_001144967.3(NEDD4L):c.48+28A>C	noncoding	Benign
18	58044739	C	T	C58044739T	NEDD4L	NM_001144967.3(NEDD4L):c.48+31C>T	noncoding	Benign
18	58044789	C	G	C58044789G	NEDD4L	NM_001144967.3(NEDD4L):c.48+81C>G	noncoding	Benign
18	58044959	G	C	G58044959C	NEDD4L	NM_001144967.3(NEDD4L):c.48+251G>C	noncoding	Benign
18	58044971	C	T	C58044971T	NEDD4L	NM_001144967.3(NEDD4L):c.48+263C>T	noncoding	Benign
18	58149097	G	A	G58149097A	NEDD4L	NM_001144967.3(NEDD4L):c.49-16691G>A	noncoding	Benign
18	58149205	A	G	A58149205G	NEDD4L	NM_001144967.3(NEDD4L):c.49-16583A>G	noncoding	Benign
18	58149521	A	G	A58149521G	NEDD4L	NM_001144967.3(NEDD4L):c.49-16267A>G	coding	Benign
18	58149559	G	A	G58149559A	NEDD4L	NM_001144967.3(NEDD4L):c.49-16229G>A	coding	Benign
18	58149603	C	T	C58149603T	NEDD4L	NM_001144967.3(NEDD4L):c.49-16185C>T	noncoding	Benign
18	58165518	A	G	A58165518G	NEDD4L	NM_001144967.3(NEDD4L):c.49-270A>G	noncoding	Benign
18	58165664	C	T	C58165664T	NEDD4L	NM_001144967.3(NEDD4L):c.49-124C>T	noncoding	Benign
18	58165797	C	T	C58165797T	NEDD4L	NM_001144967.3(NEDD4L):c.58C>T:p.Arg20Cys	coding	Benign
18	58245190	G	C	G58245190C	NEDD4L	NM_001144967.3(NEDD4L):c.123-237G>C	noncoding	Benign
18	58245191	T	C	T58245191C	NEDD4L	NM_001144967.3(NEDD4L):c.123-236T>C	noncoding	Benign
18	58245467	A	G	A58245467G	NEDD4L	NM_001144967.3(NEDD4L):c.163A>G:p.Asn55Asp	coding	Benign
18	58248737	C	G	C58248737G	NEDD4L	NM_001144967.3(NEDD4L):c.205-162C>G	noncoding	Benign
18	58251959	G	A	G58251959A	NEDD4L	NM_001144967.3(NEDD4L):c.244-42G>A	noncoding	Benign
18	58251967	C	T	C58251967T	NEDD4L	NM_001144967.3(NEDD4L):c.244-34C>T	noncoding	Benign
18	58252071	A	G	A58252071G	NEDD4L	NM_001144967.3(NEDD4L):c.297+17A>G	noncoding	Benign/Likely_benign
18	58252263	G	C	G58252263C	NEDD4L	NM_001144967.3(NEDD4L):c.297+209G>C	noncoding	Benign
18	58316098	T	C	T58316098C	NEDD4L	NM_001144967.3(NEDD4L):c.348+66T>C	noncoding	Benign
18	58316132	A	G	A58316132G	NEDD4L	NM_001144967.3(NEDD4L):c.348+100A>G	noncoding	Benign
18	58322246	A	T	A58322246T	NEDD4L	NM_001144967.3(NEDD4L):c.349-179A>T	noncoding	Benign
18	58322536	A	G	A58322536G	NEDD4L	NM_001144967.3(NEDD4L):c.410+50A>G	noncoding	Benign
18	58323169	C	A	C58323169A	NEDD4L	NM_001144967.3(NEDD4L):c.411-63C>A	noncoding	Benign
18	58323271	G	T	G58323271T	NEDD4L	NM_001144967.3(NEDD4L):c.450G>T:p.Met150Ile	coding	Benign
18	58323348	G	A	G58323348A	NEDD4L	NM_001144967.3(NEDD4L):c.513+14G>A	noncoding	Benign
18	58323649	A	G	A58323649G	NEDD4L	NM_001144967.3(NEDD4L):c.513+315A>G	noncoding	Benign
18	58323678	G	A	G58323678A	NEDD4L	NM_001144967.3(NEDD4L):c.513+344G>A	noncoding	Benign
18	58324952	C	T	C58324952T	NEDD4L	NM_001144967.3(NEDD4L):c.514-44C>T	noncoding	Benign
18	58325017	T	A	T58325017A	NEDD4L	NM_001144967.3(NEDD4L):c.535T>A:p.Ser179Thr	coding	Benign/Likely_benign
18	58325028	G	A	G58325028A	NEDD4L	NM_001144967.3(NEDD4L):c.546G>A:p.Ser182=	coding	Benign
18	58325050	C	T	C58325050T	NEDD4L	NM_001144967.3(NEDD4L):c.568C>T:p.Leu190Phe	coding	Benign
18	58325062	C	T	C58325062T	NEDD4L	NM_001144967.3(NEDD4L):c.580C>T:p.Pro194Ser	coding	Benign
18	58325105	G	A	G58325105A	NEDD4L	NM_001144967.3(NEDD4L):c.623G>A:p.Arg208Gln	coding	Pathogenic/Likely_pathogenic
18	58329018	A	G	A58329018G	NEDD4L	NM_001144967.3(NEDD4L):c.704A>G:p.Asn235Ser	coding	Benign
18	58329082	C	T	C58329082T	NEDD4L	NM_001144967.3(NEDD4L):c.768C>T:p.Ser256=	coding	Benign
18	58329132	G	A	G58329132A	NEDD4L	NM_001144967.3(NEDD4L):c.813+5G>A	noncoding	Benign/Likely_benign
18	58329340	T	C	T58329340C	NEDD4L	NM_001144967.3(NEDD4L):c.813+213T>C	noncoding	Benign
18	58330769	T	G	T58330769G	NEDD4L	NM_001144967.3(NEDD4L):c.845T>G:p.Ile282Ser	coding	Benign
18	58330771	G	A	G58330771A	NEDD4L	NM_001144967.3(NEDD4L):c.847G>A:p.Ala283Thr	coding	Benign
18	58330826	G	A	G58330826A	NEDD4L	NM_001144967.3(NEDD4L):c.902G>A:p.Arg301Gln	coding	Benign
18	58333854	G	A	G58333854A	NEDD4L	NM_001144967.3(NEDD4L):c.1027G>A:p.Val343Ile	coding	Benign
18	58333872	G	C	G58333872C	NEDD4L	NM_001144967.3(NEDD4L):c.1045G>C:p.Glu349Gln	coding	Benign
18	58333879	G	C	G58333879C	NEDD4L	NM_001144967.3(NEDD4L):c.1052G>C:p.Gly351Ala	coding	Benign
18	58335518	C	G	C58335518G	NEDD4L	NM_001144967.3(NEDD4L):c.1106C>G:p.Thr369Arg	coding	Benign
18	58335570	A	G	A58335570G	NEDD4L	NM_001144967.3(NEDD4L):c.1125+33A>G	noncoding	Benign
18	58340916	A	G	A58340916G	NEDD4L	NM_001144967.3(NEDD4L):c.1126-122A>G	noncoding	Benign
18	58341051	A	T	A58341051T	NEDD4L	NM_001144967.3(NEDD4L):c.1139A>T:p.Tyr380Phe	coding	Benign
18	58341699	G	A	G58341699A	NEDD4L	NM_001144967.3(NEDD4L):c.1279G>A:p.Gly427Arg	coding	Benign
18	58342639	T	C	T58342639C	NEDD4L	NM_001144967.3(NEDD4L):c.1378-267T>C	noncoding	Benign
18	58342640	G	A	G58342640A	NEDD4L	NM_001144967.3(NEDD4L):c.1378-266G>A	noncoding	Benign
18	58342903	T	C	T58342903C	NEDD4L	NM_001144967.3(NEDD4L):c.1378-3T>C	noncoding	Benign
18	58342924	G	A	G58342924A	NEDD4L	NM_001144967.3(NEDD4L):c.1396G>A:p.Val466Ile	coding	Benign
18	58343313	G	T	G58343313T	NEDD4L	NM_001144967.3(NEDD4L):c.1575+210G>T	noncoding	Benign
18	58343361	G	A	G58343361A	NEDD4L	NM_001144967.3(NEDD4L):c.1575+258G>A	noncoding	Benign
18	58349568	T	C	T58349568C	NEDD4L	NM_001144967.3(NEDD4L):c.1607T>C:p.Met536Thr	coding	Benign
18	58349595	A	G	A58349595G	NEDD4L	NM_001144967.3(NEDD4L):c.1634A>G:p.Asn545Ser	coding	Benign
18	58349605	C	T	C58349605T	NEDD4L	NM_001144967.3(NEDD4L):c.1644C>T:p.Gly548=	coding	Benign/Likely_benign
18	58351056	G	A	G58351056A	NEDD4L	NM_001144967.3(NEDD4L):c.1708+11G>A	noncoding	Benign
18	58357298	C	T	C58357298T	NEDD4L	NM_001144967.3(NEDD4L):c.1767+46C>T	noncoding	Benign
18	58357306	C	T	C58357306T	NEDD4L	NM_001144967.3(NEDD4L):c.1767+54C>T	noncoding	Benign
18	58357323	A	G	A58357323G	NEDD4L	NM_001144967.3(NEDD4L):c.1767+71A>G	noncoding	Benign
18	58364350	T	C	T58364350C	NEDD4L	NM_001144967.3(NEDD4L):c.1833+17T>C	noncoding	Benign
18	58364375	T	G	T58364375G	NEDD4L	NM_001144967.3(NEDD4L):c.1833+42T>G	noncoding	Benign
18	58366227	A	G	A58366227G	NEDD4L	NM_001144967.3(NEDD4L):c.2062A>G:p.Thr688Ala	coding	Benign
18	58366266	G	A	G58366266A	NEDD4L	NM_001144967.3(NEDD4L):c.2063+38G>A	noncoding	Benign
18	58367495	C	T	C58367495T	NEDD4L	NM_001144967.3(NEDD4L):c.2064-251C>T	noncoding	Benign
18	58370256	T	C	T58370256C	NEDD4L	NM_001144967.3(NEDD4L):c.2186-141T>C	noncoding	Benign
18	58370393	T	G	T58370393G	NEDD4L	NM_001144967.3(NEDD4L):c.2186-4T>G	noncoding	Benign
18	58370451	A	G	A58370451G	NEDD4L	NM_001144967.3(NEDD4L):c.2240A>G:p.Asn747Ser	coding	Benign
18	58370617	A	G	A58370617G	NEDD4L	NM_001144967.3(NEDD4L):c.2256+150A>G	noncoding	Benign
18	58370656	C	G	C58370656G	NEDD4L	NM_001144967.3(NEDD4L):c.2256+189C>G	noncoding	Benign
18	58373259	A	C	A58373259C	NEDD4L	NM_001144967.3(NEDD4L):c.2342A>C:p.Asn781Thr	coding	Benign
18	58373417	T	C	T58373417C	NEDD4L	NM_001144967.3(NEDD4L):c.2352+148T>C	noncoding	Benign
18	58383295	A	G	A58383295G	NEDD4L	NM_001144967.3(NEDD4L):c.2402A>G:p.Asn801Ser	coding	Benign
18	58383333	T	C	T58383333C	NEDD4L	NM_001144967.3(NEDD4L):c.2426+14T>C	noncoding	Benign
18	58383563	A	G	A58383563G	NEDD4L	NM_001144967.3(NEDD4L):c.2426+244A>G	noncoding	Benign
18	58385600	G	A	G58385600A	NEDD4L	NM_001144967.3(NEDD4L):c.2487+14G>A	noncoding	Benign
18	58385830	T	G	T58385830G	NEDD4L	NM_001144967.3(NEDD4L):c.2487+244T>G	noncoding	Benign
18	58385884	A	C	A58385884C	NEDD4L	NM_001144967.3(NEDD4L):c.2487+298A>C	noncoding	Benign
18	58387253	G	A	G58387253A	NEDD4L	NM_001144967.3(NEDD4L):c.2488-186G>A	noncoding	Benign
18	58387460	A	G	A58387460G	NEDD4L	NM_001144967.3(NEDD4L):c.2509A>G:p.Ile837Val	coding	Benign
18	58388866	G	A	G58388866A	NEDD4L	NM_001144967.3(NEDD4L):c.2548-219G>A	noncoding	Benign
18	58389151	G	A	G58389151A	NEDD4L	NM_001144967.3(NEDD4L):c.2614G>A:p.Gly872Ser	coding	Benign
18	58389241	T	C	T58389241C	NEDD4L	NM_001144967.3(NEDD4L):c.2655+49T>C	noncoding	Benign
18	58389270	G	A	G58389270A	NEDD4L	NM_001144967.3(NEDD4L):c.2655+78G>A	noncoding	Benign
18	58389446	G	A	G58389446A	NEDD4L	NM_001144967.3(NEDD4L):c.2655+254G>A	noncoding	Benign
18	58391019	G	A	G58391019A	NEDD4L	NM_001144967.3(NEDD4L):c.2752+277G>A	noncoding	Benign
18	58391504	C	A	C58391504A	NEDD4L	NM_001144967.3(NEDD4L):c.2770C>A:p.Leu924Met	coding	Benign
18	58391581	A	G	A58391581G	NEDD4L	NM_001144967.3(NEDD4L):c.2825+22A>G	noncoding	Benign
18	58391828	G	A	G58391828A	NEDD4L	NM_001144967.3(NEDD4L):c.2825+269G>A	noncoding	Benign
18	58395851	A	G	A58395851G	NEDD4L	NM_001144967.3(NEDD4L):c.2826-316A>G	noncoding	Benign
18	58395921	C	T	C58395921T	NEDD4L	NM_001144967.3(NEDD4L):c.2826-246C>T	noncoding	Benign
18	58395968	A	G	A58395968G	NEDD4L	NM_001144967.3(NEDD4L):c.2826-199A>G	noncoding	Benign
18	58396082	C	T	C58396082T	NEDD4L	NM_001144967.3(NEDD4L):c.2826-85C>T	noncoding	Benign
18	58396283	C	T	C58396283T	NEDD4L	NM_001144967.3(NEDD4L):c.*14C>T	noncoding	Benign
18	58396308	T	G	T58396308G	NEDD4L	NM_001144967.3(NEDD4L):c.*39T>G	noncoding	Benign
18	58700609	C	T	C58700609T	MALT1	NM_006785.4(MALT1):c.649+18C>T	noncoding	Benign
18	58733510	C	T	C58733510T	MALT1	NM_006785.4(MALT1):c.1336C>T:p.Leu446=	coding	Benign
18	58733594	T	C	T58733594C	MALT1	NM_006785.4(MALT1):c.1400+20T>C	noncoding	Benign
18	58734291	C	T	C58734291T	MALT1	NM_006785.4(MALT1):c.1401-16C>T	noncoding	Benign
18	59268713	G	A	G59268713A	RAX	NM_013435.3(RAX):c.*291C>T	noncoding	Benign/Likely_benign
18	59268768	G	A	G59268768A	RAX	NM_013435.3(RAX):c.*236C>T	noncoding	Benign/Likely_benign
18	59269485	C	T	C59269485T	RAX	NM_013435.3(RAX):c.560G>A:p.Arg187Gln	coding	Pathogenic
18	59269824	C	A	C59269824A	RAX	NM_013435.3(RAX):c.544-323G>T	noncoding	Benign
18	59272358	T	C	T59272358C	RAX	NM_013435.3(RAX):c.543+3A>G	noncoding	Pathogenic
18	59273645	G	A	G59273645A	RAX	Single_allele	noncoding	Benign
18	59331669	C	T	C59331669T	LMAN1	NM_005570.4(LMAN1):c.1375-130G>A	noncoding	Benign
18	59332809	G	A	G59332809A	LMAN1	NM_005570.4(LMAN1):c.1374+282C>T	noncoding	Benign
18	59333042	T	C	T59333042C	LMAN1	NM_005570.4(LMAN1):c.1374+49A>G	noncoding	Benign
18	59338423	T	C	T59338423C	LMAN1	NM_005570.4(LMAN1):c.1220+134A>G	noncoding	Benign
18	59338507	T	A	T59338507A	LMAN1	NM_005570.4(LMAN1):c.1220+50A>T	noncoding	Benign
18	59347481	G	T	G59347481T	LMAN1	NM_005570.4(LMAN1):c.822+32C>A	noncoding	Benign
18	59347657	T	C	T59347657C	LMAN1	NM_005570.4(LMAN1):c.764-86A>G	noncoding	Benign
18	59349378	T	C	T59349378C	LMAN1	NM_005570.4(LMAN1):c.640-142A>G	noncoding	Benign
18	59354246	A	T	A59354246T	LMAN1	NM_005570.4(LMAN1):c.539+273T>A	noncoding	Benign
18	59354317	G	T	G59354317T	LMAN1	NM_005570.4(LMAN1):c.539+202C>A	noncoding	Benign
18	59354971	G	C	G59354971C	LMAN1	NM_005570.4(LMAN1):c.477+342C>G	noncoding	Benign
18	59358863	C	T	C59358863T	LMAN1	NM_005570.4(LMAN1):c.214+168G>A	noncoding	Benign
18	59359441	T	G	T59359441G	LMAN1	Single_allele	noncoding	Benign
18	59436320	G	A	G59436320A	CCBE1	NM_133459.4(CCBE1):c.988-179C>T	noncoding	Benign
18	59438406	A	G	A59438406G	CCBE1	NM_133459.4(CCBE1):c.952-260T>C	noncoding	Benign
18	59439980	C	T	C59439980T	CCBE1	NM_133459.4(CCBE1):c.776-164G>A	noncoding	Benign
18	59447812	G	A	G59447812A	CCBE1	NM_133459.4(CCBE1):c.775+171C>T	noncoding	Benign
18	59447901	T	C	T59447901C	CCBE1	NM_133459.4(CCBE1):c.775+82A>G	noncoding	Benign
18	59448258	T	A	T59448258A	CCBE1	NM_133459.4(CCBE1):c.655-155A>T	noncoding	Benign
18	59448300	G	A	G59448300A	CCBE1	NM_133459.4(CCBE1):c.655-197C>T	noncoding	Benign
18	59448332	A	G	A59448332G	CCBE1	NM_133459.4(CCBE1):c.655-229T>C	noncoding	Benign
18	59454637	T	C	T59454637C	CCBE1	NM_133459.4(CCBE1):c.654+214A>G	noncoding	Benign
18	59466630	T	A	T59466630A	CCBE1	NM_133459.4(CCBE1):c.553+109A>T	noncoding	Benign
18	59466722	A	T	A59466722T	CCBE1	NM_133459.4(CCBE1):c.553+17T>A	noncoding	Benign
18	59466751	G	A	G59466751A	CCBE1	NM_133459.4(CCBE1):c.541C>T:p.Pro181Ser	coding	Benign/Likely_benign
18	59467065	C	A	C59467065A	CCBE1	NM_133459.4(CCBE1):c.401-174G>T	noncoding	Benign
18	59467116	C	G	C59467116G	CCBE1	NM_133459.4(CCBE1):c.401-225G>C	noncoding	Benign
18	59469308	T	C	T59469308C	CCBE1	NM_133459.4(CCBE1):c.400+165A>G	noncoding	Benign
18	59469652	G	A	G59469652A	CCBE1	NM_133459.4(CCBE1):c.266-45C>T	noncoding	Benign
18	59469670	C	A	C59469670A	CCBE1	NM_133459.4(CCBE1):c.266-63G>T	noncoding	Benign
18	59469763	G	A	G59469763A	CCBE1	NM_133459.4(CCBE1):c.266-156C>T	noncoding	Benign
18	59479982	G	A	G59479982A	CCBE1	NM_133459.4(CCBE1):c.265+204C>T	noncoding	Benign
18	59480119	G	A	G59480119A	CCBE1	NM_133459.4(CCBE1):c.265+67C>T	noncoding	Benign
18	59480447	C	A	C59480447A	CCBE1	NM_133459.4(CCBE1):c.213-209G>T	noncoding	Benign
18	59696396	T	C	T59696396C	CCBE1	NM_133459.4(CCBE1):c.212+233A>G	noncoding	Benign
18	59696857	G	C	G59696857C	CCBE1	NM_133459.4(CCBE1):c.132-148C>G	noncoding	Benign
18	59696941	G	T	G59696941T	CCBE1	NM_133459.4(CCBE1):c.132-232C>A	noncoding	Benign
18	59697596	C	T	C59697596T	CCBE1	Single_allele	noncoding	Benign
18	59697734	C	T	C59697734T	CCBE1	Single_allele	noncoding	Benign
18	60371099	T	C	T60371099C	MC4R	NM_005912.3(MC4R):c.*252A>G	noncoding	Benign
18	60371519	A	T	A60371519T	MC4R	NM_005912.3(MC4R):c.831T>A:p.Cys277Ter	coding	Pathogenic
18	60372082	C	T	C60372082T	MC4R	NM_005912.3(MC4R):c.268G>A:p.Asp90Asn	coding	Pathogenic
18	60372110	G	T	G60372110T	MC4R	NM_005912.3(MC4R):c.240C>A:p.Tyr80Ter	coding	Pathogenic
18	62074765	C	T	C62074765T	PIGN	NM_176787.5(PIGN):c.2619+14G>A	noncoding	Benign/Likely_benign
18	62082760	A	G	A62082760G	PIGN	NM_176787.5(PIGN):c.2503-14T>C	noncoding	Benign
18	62082901	C	A	C62082901A	PIGN	NM_176787.5(PIGN):c.2503-155G>T	noncoding	Benign
18	62084482	T	C	T62084482C	PIGN	NM_176787.5(PIGN):c.2502+49A>G	noncoding	Benign
18	62085122	A	T	A62085122T	PIGN	NM_176787.5(PIGN):c.2426+87T>A	noncoding	Benign
18	62085414	C	A	C62085414A	PIGN	NM_176787.5(PIGN):c.2371-150G>T	noncoding	Benign
18	62085459	C	T	C62085459T	PIGN	NM_176787.5(PIGN):c.2371-195G>A	noncoding	Benign
18	62085509	A	G	A62085509G	PIGN	NM_176787.5(PIGN):c.2371-245T>C	noncoding	Benign
18	62088570	A	T	A62088570T	PIGN	NM_176787.5(PIGN):c.2370+186T>A	noncoding	Benign
18	62089073	G	C	G62089073C	PIGN	NM_176787.5(PIGN):c.2284-231C>G	noncoding	Benign
18	62095881	G	C	G62095881C	PIGN	NM_176787.5(PIGN):c.2147C>G:p.Ser716Ter	coding	Pathogenic
18	62100884	G	A	G62100884A	PIGN	NM_176787.5(PIGN):c.2077+191C>T	noncoding	Benign
18	62105352	C	T	C62105352T	PIGN	NM_176787.5(PIGN):c.1859+191G>A	noncoding	Benign
18	62105391	A	T	A62105391T	PIGN	NM_176787.5(PIGN):c.1859+152T>A	noncoding	Benign
18	62105526	T	C	T62105526C	PIGN	NM_176787.5(PIGN):c.1859+17A>G	noncoding	Benign
18	62105540	T	C	T62105540C	PIGN	NM_176787.5(PIGN):c.1859+3A>G	noncoding	Pathogenic
18	62105565	G	A	G62105565A	PIGN	NM_176787.5(PIGN):c.1837C>T:p.Arg613Ter	coding	Pathogenic/Likely_pathogenic
18	62105693	G	A	G62105693A	PIGN	NM_176787.5(PIGN):c.1768-59C>T	noncoding	Benign
18	62106635	C	A	C62106635A	PIGN	NM_176787.5(PIGN):c.1767+154G>T	noncoding	Benign
18	62106882	C	A	C62106882A	PIGN	NM_176787.5(PIGN):c.1675-1G>T	coding	Pathogenic/Likely_pathogenic
18	62106953	T	C	T62106953C	PIGN	NM_176787.5(PIGN):c.1674+33A>G	noncoding	Benign
18	62107000	C	T	C62107000T	PIGN	NM_176787.5(PIGN):c.1660G>A:p.Gly554Arg	coding	Pathogenic
18	62107173	C	G	C62107173G	PIGN	NM_176787.5(PIGN):c.1575-88G>C	noncoding	Benign
18	62107175	T	G	T62107175G	PIGN	NM_176787.5(PIGN):c.1575-90A>C	noncoding	Benign
18	62109645	A	G	A62109645G	PIGN	NM_176787.5(PIGN):c.1574+189T>C	noncoding	Benign
18	62109778	T	C	T62109778C	PIGN	NM_176787.5(PIGN):c.1574+56A>G	noncoding	Benign
18	62109891	C	T	C62109891T	PIGN	NM_176787.5(PIGN):c.1517G>A:p.Trp506Ter	coding	Pathogenic
18	62110153	A	T	A62110153T	PIGN	NM_176787.5(PIGN):c.1435-180T>A	noncoding	Benign
18	62110217	T	C	T62110217C	PIGN	NM_176787.5(PIGN):c.1435-244A>G	noncoding	Benign
18	62112937	C	G	C62112937G	PIGN	NM_176787.5(PIGN):c.1434+197G>C	noncoding	Benign
18	62113129	C	T	C62113129T	PIGN	NM_176787.5(PIGN):c.1434+5G>A	noncoding	Pathogenic/Likely_pathogenic
18	62113597	G	A	G62113597A	PIGN	NM_176787.5(PIGN):c.1252-281C>T	noncoding	Benign
18	62114550	G	A	G62114550A	PIGN	NM_176787.5(PIGN):c.1251+11C>T	noncoding	Benign/Likely_benign
18	62114722	A	T	A62114722T	PIGN	NM_176787.5(PIGN):c.1173-83T>A	noncoding	Benign
18	62114787	T	G	T62114787G	PIGN	NM_176787.5(PIGN):c.1173-148A>C	noncoding	Benign
18	62114858	A	G	A62114858G	PIGN	NM_176787.5(PIGN):c.1173-219T>C	noncoding	Benign
18	62137949	G	T	G62137949T	PIGN	NM_176787.5(PIGN):c.1172+294C>A	noncoding	Benign
18	62138039	C	A	C62138039A	PIGN	NM_176787.5(PIGN):c.1172+204G>T	noncoding	Benign
18	62138133	T	C	T62138133C	PIGN	NM_176787.5(PIGN):c.1172+110A>G	noncoding	Benign
18	62138167	T	G	T62138167G	PIGN	NM_176787.5(PIGN):c.1172+76A>C	noncoding	Benign
18	62138473	C	T	C62138473T	PIGN	NM_176787.5(PIGN):c.1117-175G>A	noncoding	Benign
18	62138763	T	C	T62138763C	PIGN	NM_176787.5(PIGN):c.1116+220A>G	noncoding	Benign
18	62138957	C	T	C62138957T	PIGN	NM_176787.5(PIGN):c.1116+26G>A	noncoding	Benign
18	62139109	T	A	T62139109A	PIGN	NM_176787.5(PIGN):c.1024-34A>T	noncoding	Benign
18	62140371	G	A	G62140371A	PIGN	NM_176787.5(PIGN):c.1023+49C>T	noncoding	Benign
18	62140402	T	C	T62140402C	PIGN	NM_176787.5(PIGN):c.1023+18A>G	noncoding	Benign
18	62140499	A	G	A62140499G	PIGN	NM_176787.5(PIGN):c.964-20T>C	noncoding	Benign/Likely_benign
18	62140525	A	G	A62140525G	PIGN	NM_176787.5(PIGN):c.964-46T>C	noncoding	Benign
18	62140563	A	T	A62140563T	PIGN	NM_176787.5(PIGN):c.964-84T>A	noncoding	Benign
18	62143027	C	T	C62143027T	PIGN	NM_176787.5(PIGN):c.963+279G>A	noncoding	Benign
18	62143136	G	C	G62143136C	PIGN	NM_176787.5(PIGN):c.963+170C>G	noncoding	Benign
18	62143260	T	C	T62143260C	PIGN	NM_176787.5(PIGN):c.963+46A>G	noncoding	Benign
18	62143295	G	A	G62143295A	PIGN	NM_176787.5(PIGN):c.963+11C>T	noncoding	Benign
18	62145883	A	G	A62145883G	PIGN	NM_176787.5(PIGN):c.922+26T>C	noncoding	Benign
18	62146852	T	C	T62146852C	PIGN	NM_176787.5(PIGN):c.805+119A>G	noncoding	Benign
18	62146944	G	T	G62146944T	PIGN	NM_176787.5(PIGN):c.805+27C>A	noncoding	Benign
18	62147379	T	A	T62147379A	PIGN	NM_176787.5(PIGN):c.675-278A>T	noncoding	Benign
18	62147433	C	A	C62147433A	PIGN	NM_176787.5(PIGN):c.675-332G>T	noncoding	Benign
18	62148051	G	C	G62148051C	PIGN	NM_176787.5(PIGN):c.674+163C>G	noncoding	Benign
18	62148649	G	C	G62148649C	PIGN	NM_176787.5(PIGN):c.550-311C>G	noncoding	Benign
18	62154479	G	A	G62154479A	PIGN	NM_176787.5(PIGN):c.549+66C>T	noncoding	Benign
18	62154716	G	A	G62154716A	PIGN	NM_176787.5(PIGN):c.443-65C>T	noncoding	Benign
18	62154719	A	G	A62154719G	PIGN	NM_176787.5(PIGN):c.443-68T>C	noncoding	Benign
18	62154827	C	T	C62154827T	PIGN	NM_176787.5(PIGN):c.443-176G>A	noncoding	Benign
18	62156976	A	T	A62156976T	PIGN	NM_176787.5(PIGN):c.442+153T>A	noncoding	Benign
18	62157132	T	A	T62157132A	PIGN	NM_176787.5(PIGN):c.439A>T:p.Lys147Ter	coding	Pathogenic
18	62157224	C	T	C62157224T	PIGN	NM_176787.5(PIGN):c.347G>A:p.Trp116Ter	coding	Pathogenic
18	62157257	A	T	A62157257T	PIGN	NM_176787.5(PIGN):c.344-30T>A	noncoding	Benign
18	62157516	T	C	T62157516C	PIGN	NM_176787.5(PIGN):c.343+171A>G	noncoding	Benign
18	62157876	A	C	A62157876C	PIGN	NM_176787.5(PIGN):c.222-68T>G	noncoding	Benign
18	62161536	C	T	C62161536T	PIGN	NM_176787.5(PIGN):c.-32-151G>A	noncoding	Benign
18	62348309	T	C	T62348309C	TNFRSF11A	NM_003839.4(TNFRSF11A):c.157+60T>C	noncoding	Benign
18	62348517	G	A	G62348517A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.157+268G>A	noncoding	Benign
18	62354271	T	G	T62354271G	TNFRSF11A	NM_003839.4(TNFRSF11A):c.284-120T>G	noncoding	Benign
18	62358142	C	T	C62358142T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.428-106C>T	noncoding	Benign
18	62359698	G	C	G62359698C	TNFRSF11A	NM_003839.4(TNFRSF11A):c.522-257G>C	noncoding	Benign
18	62359772	T	A	T62359772A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.522-183T>A	noncoding	Benign
18	62360128	G	A	G62360128A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.616+79G>A	noncoding	Benign
18	62360215	G	A	G62360215A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.616+166G>A	noncoding	Benign
18	62361422	A	C	A62361422C	TNFRSF11A	NM_003839.4(TNFRSF11A):c.617-258A>C	noncoding	Benign
18	62361529	G	A	G62361529A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.617-151G>A	noncoding	Benign
18	62361588	G	T	G62361588T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.617-92G>T	noncoding	Benign
18	62361660	C	T	C62361660T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.617-20C>T	noncoding	Benign
18	62361699	C	T	C62361699T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.636C>T:p.Pro212=	coding	Benign
18	62361984	T	C	T62361984C	TNFRSF11A	NM_003839.4(TNFRSF11A):c.730+191T>C	noncoding	Benign
18	62362005	G	C	G62362005C	TNFRSF11A	NM_003839.4(TNFRSF11A):c.730+212G>C	noncoding	Benign
18	62362048	A	G	A62362048G	TNFRSF11A	NM_003839.4(TNFRSF11A):c.730+255A>G	noncoding	Benign
18	62362059	G	A	G62362059A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.730+266G>A	noncoding	Benign
18	62368996	T	A	T62368996A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.1079T>A:p.Leu360Ter	coding	Pathogenic
18	62369491	G	A	G62369491A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.1567+7G>A	noncoding	Benign/Likely_benign
18	62384655	G	A	G62384655A	TNFRSF11A	NM_003839.4(TNFRSF11A):c.1568-96G>A	noncoding	Benign
18	63355558	C	T	C63355558T	KDSR	NM_002035.4(KDSR):c.261G>A:p.Val87=	coding	Benign
18	63362764	A	G	A63362764G	KDSR	NM_002035.4(KDSR):c.198+15T>C	noncoding	Benign
18	63476801	T	C	T63476801C	SERPINB5	Single_allele	noncoding	Benign
18	63476820	T	C	T63476820C	SERPINB5	Single_allele	noncoding	Benign
18	63782529	C	T	C63782529T	SERPINB7	NM_003784.4(SERPINB7):c.157C>T:p.Gln53Ter	coding	Pathogenic
18	63792132	G	A	G63792132A	SERPINB7	NM_003784.4(SERPINB7):c.169-261G>A	noncoding	Benign
18	63792182	A	G	A63792182G	SERPINB7	NM_003784.4(SERPINB7):c.169-211A>G	noncoding	Benign
18	63792836	G	A	G63792836A	SERPINB7	NM_003784.4(SERPINB7):c.220-325G>A	noncoding	Benign
18	63793052	A	T	A63793052T	SERPINB7	NM_003784.4(SERPINB7):c.220-109A>T	noncoding	Benign
18	63796247	A	G	A63796247G	SERPINB7	NM_003784.4(SERPINB7):c.337-19A>G	noncoding	Benign
18	63796550	G	T	G63796550T	SERPINB7	NM_003784.4(SERPINB7):c.454+167G>T	noncoding	Benign
18	63798576	A	G	A63798576G	SERPINB7	NM_003784.4(SERPINB7):c.455-28A>G	noncoding	Benign
18	63798790	C	T	C63798790T	SERPINB7	NM_003784.4(SERPINB7):c.597+44C>T	noncoding	Benign
18	63798824	T	C	T63798824C	SERPINB7	NM_003784.4(SERPINB7):c.597+78T>C	noncoding	Benign
18	63800851	T	A	T63800851A	SERPINB7	NM_003784.4(SERPINB7):c.598-15T>A	noncoding	Benign
18	63801072	G	C	G63801072C	SERPINB7	NM_003784.4(SERPINB7):c.744+60G>C	noncoding	Benign
18	63804218	C	G	C63804218G	SERPINB7	NM_003784.4(SERPINB7):c.745-19C>G	noncoding	Benign
18	63804289	G	A	G63804289A	SERPINB7	NM_003784.4(SERPINB7):c.797G>A:p.Arg266Gln	coding	Benign
18	63804295	C	T	C63804295T	SERPINB7	NM_003784.4(SERPINB7):c.803C>T:p.Thr268Ile	coding	Benign
18	63804359	A	G	A63804359G	SERPINB7	NM_003784.4(SERPINB7):c.867A>G:p.Gln289=	coding	Benign
18	63804428	G	T	G63804428T	SERPINB7	NM_003784.4(SERPINB7):c.936G>T:p.Ser312=	coding	Benign
18	63979835	G	A	G63979835A	SERPINB8	NM_002640.4(SERPINB8):c.203G>A:p.Arg68Gln	coding	Benign
18	63979886	T	G	T63979886G	SERPINB8	NM_002640.4(SERPINB8):c.254T>G:p.Leu85Trp	coding	Benign
18	63980032	C	T	C63980032T	SERPINB8	NM_002640.4(SERPINB8):c.306+94C>T	noncoding	Benign
18	63980245	A	T	A63980245T	SERPINB8	NM_002640.4(SERPINB8):c.306+307A>T	noncoding	Benign
18	63981491	C	T	C63981491T	SERPINB8	NM_002640.4(SERPINB8):c.307-230C>T	noncoding	Benign
18	63981603	G	A	G63981603A	SERPINB8	NM_002640.4(SERPINB8):c.307-118G>A	noncoding	Benign
18	63981936	A	G	A63981936G	SERPINB8	NM_002640.4(SERPINB8):c.424+98A>G	noncoding	Benign
18	63983631	G	A	G63983631A	SERPINB8	NM_002640.4(SERPINB8):c.477G>A:p.Leu159=	coding	Benign
18	63984801	G	A	G63984801A	SERPINB8	NM_002640.4(SERPINB8):c.568-292G>A	noncoding	Benign
18	63985088	G	A	G63985088A	SERPINB8	NM_002640.4(SERPINB8):c.568-5G>A	noncoding	Benign
18	63985340	T	C	T63985340C	SERPINB8	NM_002640.4(SERPINB8):c.720+95T>C	noncoding	Benign
18	63985485	T	G	T63985485G	SERPINB8	NM_002640.4(SERPINB8):c.720+240T>G	noncoding	Benign
18	63986336	C	G	C63986336G	SERPINB8	NM_002640.4(SERPINB8):c.721-538C>G	coding	Benign
18	63987063	A	G	A63987063G	SERPINB8	NM_002640.4(SERPINB8):c.910A>G:p.Thr304Ala	coding	Benign
18	63987095	C	T	C63987095T	SERPINB8	NM_002640.4(SERPINB8):c.942C>T:p.Ala314=	coding	Benign
18	63987229	A	G	A63987229G	SERPINB8	NM_002640.4(SERPINB8):c.1076A>G:p.His359Arg	coding	Benign
18	65762670	C	A	C65762670A	CDH7	NM_004361.5(CDH7):c.-173C>A	noncoding	Benign
18	65763104	G	A	G65763104A	CDH7	NM_004361.5(CDH7):c.210+52G>A	noncoding	Benign
18	65763108	T	G	T65763108G	CDH7	NM_004361.5(CDH7):c.210+56T>G	noncoding	Benign
18	65763257	A	G	A65763257G	CDH7	NM_004361.5(CDH7):c.210+205A>G	noncoding	Benign
18	65809574	C	T	C65809574T	CDH7	NM_004361.5(CDH7):c.211-130C>T	noncoding	Benign
18	65809970	G	A	G65809970A	CDH7	NM_004361.5(CDH7):c.477G>A:p.Thr159=	coding	Benign
18	65814178	A	T	A65814178T	CDH7	NM_004361.5(CDH7):c.506-307A>T	noncoding	Benign
18	65821778	A	G	A65821778G	CDH7	NM_004361.5(CDH7):c.626-303A>G	noncoding	Benign
18	65821923	C	A	C65821923A	CDH7	NM_004361.5(CDH7):c.626-158C>A	noncoding	Benign
18	65822007	C	T	C65822007T	CDH7	NM_004361.5(CDH7):c.626-74C>T	noncoding	Benign
18	65822142	C	T	C65822142T	CDH7	NM_004361.5(CDH7):c.687C>T:p.Val229=	coding	Benign
18	65822425	G	A	G65822425A	CDH7	NM_004361.5(CDH7):c.793+177G>A	noncoding	Benign
18	65824561	A	G	A65824561G	CDH7	NM_004361.5(CDH7):c.794-83A>G	noncoding	Benign
18	65824963	A	G	A65824963G	CDH7	NM_004361.5(CDH7):c.981+132A>G	noncoding	Benign
18	65843584	G	A	G65843584A	CDH7	NM_004361.5(CDH7):c.982-228G>A	noncoding	Benign
18	65843940	T	C	T65843940C	CDH7	NM_004361.5(CDH7):c.1110T>C:p.Asp370=	coding	Benign
18	65858264	G	A	G65858264A	CDH7	NM_004361.5(CDH7):c.1372+312G>A	noncoding	Benign
18	65858699	T	C	T65858699C	CDH7	NM_004361.5(CDH7):c.1373-226T>C	noncoding	Benign
18	65859408	G	A	G65859408A	CDH7	NM_004361.5(CDH7):c.1495-300G>A	noncoding	Benign
18	65859847	C	T	C65859847T	CDH7	NM_004361.5(CDH7):c.1612+22C>T	noncoding	Benign
18	65859849	A	T	A65859849T	CDH7	NM_004361.5(CDH7):c.1612+24A>T	noncoding	Benign
18	65859906	T	C	T65859906C	CDH7	NM_004361.5(CDH7):c.1612+81T>C	noncoding	Benign
18	65860013	T	A	T65860013A	CDH7	NM_004361.5(CDH7):c.1612+188T>A	noncoding	Benign
18	65860121	A	G	A65860121G	CDH7	NM_004361.5(CDH7):c.1612+296A>G	noncoding	Benign
18	65862780	A	G	A65862780G	CDH7	NM_004361.5(CDH7):c.1727A>G:p.Asn576Ser	coding	Benign
18	65862904	C	T	C65862904T	CDH7	NM_004361.5(CDH7):c.1851C>T:p.Val617=	coding	Benign
18	68676761	G	C	G68676761C	TMX3	NM_019022.5(TMX3):c.*172C>G	noncoding	Benign
18	68676890	T	C	T68676890C	TMX3	NM_019022.5(TMX3):c.*43A>G	noncoding	Benign
18	68679813	G	T	G68679813T	TMX3	NM_019022.5(TMX3):c.1036-282C>A	noncoding	Benign
18	68680890	T	G	T68680890G	TMX3	NM_019022.5(TMX3):c.1035+91A>C	noncoding	Benign
18	68681335	T	C	T68681335C	TMX3	NM_019022.5(TMX3):c.906-225A>G	noncoding	Benign
18	68683027	G	A	G68683027A	TMX3	NM_019022.5(TMX3):c.849-46C>T	noncoding	Benign
18	68684314	T	A	T68684314A	TMX3	NM_019022.5(TMX3):c.795-71A>T	noncoding	Benign
18	68687488	G	A	G68687488A	TMX3	NM_019022.5(TMX3):c.736+179C>T	noncoding	Benign
18	68687521	A	G	A68687521G	TMX3	NM_019022.5(TMX3):c.736+146T>C	noncoding	Benign
18	68691166	G	T	G68691166T	TMX3	NM_019022.5(TMX3):c.637+129C>A	noncoding	Benign
18	68691247	C	T	C68691247T	TMX3	NM_019022.5(TMX3):c.637+48G>A	noncoding	Benign
18	68691455	A	C	A68691455C	TMX3	NM_019022.5(TMX3):c.571-94T>G	noncoding	Benign
18	68697159	G	A	G68697159A	TMX3	NM_019022.5(TMX3):c.570+67C>T	noncoding	Benign
18	68697393	G	T	G68697393T	TMX3	NM_019022.5(TMX3):c.493-90C>A	noncoding	Benign
18	68697757	A	C	A68697757C	TMX3	NM_019022.5(TMX3):c.492+175T>G	noncoding	Benign
18	68697892	T	G	T68697892G	TMX3	NM_019022.5(TMX3):c.492+40A>C	noncoding	Benign
18	68700370	A	G	A68700370G	TMX3	NM_019022.5(TMX3):c.392+35T>C	noncoding	Benign
18	68701588	A	C	A68701588C	TMX3	NM_019022.5(TMX3):c.311+157T>G	noncoding	Benign
18	68709803	G	A	G68709803A	TMX3	NM_019022.5(TMX3):c.265+218C>T	noncoding	Benign
18	68709835	A	G	A68709835G	TMX3	NM_019022.5(TMX3):c.265+186T>C	noncoding	Benign
18	68709848	C	T	C68709848T	TMX3	NM_019022.5(TMX3):c.265+173G>A	noncoding	Benign
18	68709849	G	A	G68709849A	TMX3	NM_019022.5(TMX3):c.265+172C>T	noncoding	Benign
18	68709934	A	G	A68709934G	TMX3	NM_019022.5(TMX3):c.265+87T>C	noncoding	Benign
18	68709972	A	T	A68709972T	TMX3	NM_019022.5(TMX3):c.265+49T>A	noncoding	Benign
18	68711330	G	T	G68711330T	TMX3	NM_019022.5(TMX3):c.141+34C>A	noncoding	Benign
18	68711468	G	C	G68711468C	TMX3	NM_019022.5(TMX3):c.102-65C>G	noncoding	Benign
18	68714657	G	A	G68714657A	TMX3	NM_019022.5(TMX3):c.46+279C>T	noncoding	Benign
18	68714853	C	T	C68714853T	TMX3	NM_019022.5(TMX3):c.46+83G>A	noncoding	Benign
18	68714873	G	A	G68714873A	TMX3	NM_019022.5(TMX3):c.46+63C>T	noncoding	Benign
18	68714963	A	G	A68714963G	CCDC102B	NM_019022.5(TMX3):c.19T>C:p.Trp7Arg	coding	Benign
18	68715006	C	T	C68715006T	TMX3	NM_019022.5(TMX3):c.-25G>A	noncoding	Benign
18	68715237	T	C	T68715237C	TMX3	NM_001093729.2(CCDC102B):c.-240T>C	noncoding	Benign
18	68715260	G	A	G68715260A	TMX3	NM_001093729.2(CCDC102B):c.-217G>A	noncoding	Benign
18	70004058	C	T	C70004058T	RTTN	NM_173630.4(RTTN):c.*93G>A	noncoding	Benign
18	70004420	C	T	C70004420T	RTTN	NM_173630.4(RTTN):c.6596-184G>A	noncoding	Benign
18	70005515	T	C	T70005515C	RTTN	NM_173630.4(RTTN):c.6526-248A>G	noncoding	Benign
18	70006691	G	A	G70006691A	RTTN	NM_173630.4(RTTN):c.6422-207C>T	noncoding	Benign
18	70006813	A	G	A70006813G	RTTN	NM_173630.4(RTTN):c.6422-329T>C	noncoding	Benign
18	70017771	C	T	C70017771T	RTTN	NM_173630.4(RTTN):c.6154-97G>A	noncoding	Benign
18	70017793	T	C	T70017793C	RTTN	NM_173630.4(RTTN):c.6154-119A>G	noncoding	Benign
18	70017889	T	A	T70017889A	RTTN	NM_173630.4(RTTN):c.6154-215A>T	noncoding	Benign
18	70020409	A	G	A70020409G	RTTN	NM_173630.4(RTTN):c.6153+206T>C	noncoding	Benign
18	70020765	T	C	T70020765C	RTTN	NM_173630.4(RTTN):c.6003A>G:p.Thr2001=	coding	Benign
18	70024512	G	A	G70024512A	RTTN	NM_173630.4(RTTN):c.5950+210C>T	noncoding	Benign
18	70024584	C	T	C70024584T	RTTN	NM_173630.4(RTTN):c.5950+138G>A	noncoding	Benign
18	70024685	T	G	T70024685G	RTTN	NM_173630.4(RTTN):c.5950+37A>C	noncoding	Benign
18	70024987	C	T	C70024987T	RTTN	NM_173630.4(RTTN):c.5824-139G>A	noncoding	Benign
18	70028520	G	A	G70028520A	RTTN	NM_173630.4(RTTN):c.5823+204C>T	noncoding	Benign
18	70029078	G	T	G70029078T	RTTN	NM_173630.4(RTTN):c.5746-277C>A	noncoding	Benign
18	70030860	G	A	G70030860A	RTTN	NM_173630.4(RTTN):c.5647+16C>T	noncoding	Benign/Likely_benign
18	70031069	G	C	G70031069C	RTTN	NM_173630.4(RTTN):c.5542-88C>G	noncoding	Benign
18	70051365	G	A	G70051365A	RTTN	NM_173630.4(RTTN):c.5323+46C>T	noncoding	Benign
18	70051601	C	T	C70051601T	RTTN	NM_173630.4(RTTN):c.5186-53G>A	noncoding	Benign
18	70054045	A	T	A70054045T	RTTN	NM_173630.4(RTTN):c.5185+86T>A	noncoding	Benign
18	70054304	G	T	G70054304T	RTTN	NM_173630.4(RTTN):c.5032-20C>A	noncoding	Benign
18	70054515	A	C	A70054515C	RTTN	NM_173630.4(RTTN):c.5032-231T>G	noncoding	Benign
18	70057566	A	G	A70057566G	RTTN	NM_173630.4(RTTN):c.5031+176T>C	noncoding	Benign
18	70057604	G	C	G70057604C	RTTN	NM_173630.4(RTTN):c.5031+138C>G	noncoding	Benign
18	70057798	G	A	G70057798A	RTTN	NM_173630.4(RTTN):c.4975C>T:p.Gln1659Ter	coding	Pathogenic
18	70057903	A	C	A70057903C	RTTN	NM_173630.4(RTTN):c.4941-71T>G	noncoding	Benign
18	70057972	T	C	T70057972C	RTTN	NM_173630.4(RTTN):c.4941-140A>G	noncoding	Benign
18	70058062	C	T	C70058062T	RTTN	NM_173630.4(RTTN):c.4941-230G>A	noncoding	Benign
18	70059739	A	G	A70059739G	RTTN	NM_173630.4(RTTN):c.4940+111T>C	noncoding	Benign
18	70059767	A	T	A70059767T	RTTN	NM_173630.4(RTTN):c.4940+83T>A	noncoding	Benign
18	70060095	A	T	A70060095T	RTTN	NM_173630.4(RTTN):c.4748-53T>A	noncoding	Benign
18	70065998	T	A	T70065998A	RTTN	NM_173630.4(RTTN):c.4654-76A>T	noncoding	Benign
18	70073701	G	A	G70073701A	RTTN	NM_173630.4(RTTN):c.4653+205C>T	noncoding	Benign
18	70073881	G	A	G70073881A	RTTN	NM_173630.4(RTTN):c.4653+25C>T	noncoding	Benign
18	70074073	G	A	G70074073A	RTTN	NM_173630.4(RTTN):c.4565-79C>T	noncoding	Benign
18	70075143	A	C	A70075143C	RTTN	NM_173630.4(RTTN):c.4564+209T>G	noncoding	Benign
18	70075210	T	C	T70075210C	RTTN	NM_173630.4(RTTN):c.4564+142A>G	noncoding	Benign
18	70075565	G	A	G70075565A	RTTN	NM_173630.4(RTTN):c.4375-24C>T	noncoding	Benign
18	70075630	A	G	A70075630G	RTTN	NM_173630.4(RTTN):c.4375-89T>C	noncoding	Benign
18	70086912	C	T	C70086912T	RTTN	NM_173630.4(RTTN):c.4303-228G>A	noncoding	Benign
18	70092313	C	A	C70092313A	RTTN	NM_173630.4(RTTN):c.4033-93G>T	noncoding	Benign
18	70092667	C	T	C70092667T	RTTN	NM_173630.4(RTTN):c.4032+9G>A	noncoding	Benign
18	70092670	G	A	G70092670A	RTTN	NM_173630.4(RTTN):c.4032+6C>T	noncoding	Benign/Likely_benign
18	70109278	A	G	A70109278G	RTTN	NM_173630.4(RTTN):c.3903+220T>C	noncoding	Benign
18	70109826	T	C	T70109826C	RTTN	NM_173630.4(RTTN):c.3684-109A>G	noncoding	Benign
18	70114551	G	A	G70114551A	RTTN	NM_173630.4(RTTN):c.3577C>T:p.Arg1193Ter	coding	Pathogenic
18	70127918	T	C	T70127918C	RTTN	NM_173630.4(RTTN):c.3144-177A>G	noncoding	Benign
18	70128015	C	T	C70128015T	RTTN	NM_173630.4(RTTN):c.3144-274G>A	noncoding	Benign
18	70134240	T	C	T70134240C	RTTN	NM_173630.4(RTTN):c.2954+233A>G	noncoding	Benign
18	70134840	T	C	T70134840C	RTTN	NM_173630.4(RTTN):c.2886-299A>G	noncoding	Benign
18	70135014	T	C	T70135014C	RTTN	NM_173630.4(RTTN):c.2885+170A>G	noncoding	Benign
18	70139281	A	G	A70139281G	RTTN	NM_173630.4(RTTN):c.2788+318T>C	noncoding	Benign
18	70142411	A	C	A70142411C	RTTN	NM_173630.4(RTTN):c.2482-24T>G	noncoding	Benign
18	70142412	C	A	C70142412A	RTTN	NM_173630.4(RTTN):c.2482-25G>T	noncoding	Benign
18	70145537	G	A	G70145537A	RTTN	NM_173630.4(RTTN):c.2481+75C>T	noncoding	Benign
18	70146009	T	C	T70146009C	RTTN	NM_173630.4(RTTN):c.2310-226A>G	noncoding	Benign
18	70147681	T	C	T70147681C	RTTN	NM_173630.4(RTTN):c.2309+1220A>G	noncoding	Benign
18	70147880	C	T	C70147880T	RTTN	NM_173630.4(RTTN):c.2309+1021G>A	noncoding	Benign
18	70147951	A	G	A70147951G	RTTN	NM_173630.4(RTTN):c.2309+950T>C	noncoding	Benign
18	70147953	G	A	G70147953A	RTTN	NM_173630.4(RTTN):c.2309+948C>T	noncoding	Benign
18	70148651	G	A	G70148651A	RTTN	NM_173630.4(RTTN):c.2309+250C>T	noncoding	Benign
18	70148670	G	A	G70148670A	RTTN	NM_173630.4(RTTN):c.2309+231C>T	noncoding	Benign
18	70148711	G	A	G70148711A	RTTN	NM_173630.4(RTTN):c.2309+190C>T	noncoding	Benign
18	70148889	C	T	C70148889T	RTTN	NM_173630.4(RTTN):c.2309+12G>A	noncoding	Benign/Likely_benign
18	70150508	T	C	T70150508C	RTTN	NM_173630.4(RTTN):c.2055+100A>G	noncoding	Benign
18	70150810	C	T	C70150810T	RTTN	NM_173630.4(RTTN):c.1930-77G>A	noncoding	Benign
18	70150830	T	C	T70150830C	RTTN	NM_173630.4(RTTN):c.1930-97A>G	noncoding	Benign
18	70165737	C	T	C70165737T	RTTN	NM_173630.4(RTTN):c.1929+325G>A	noncoding	Benign
18	70166044	G	A	G70166044A	RTTN	NM_173630.4(RTTN):c.1929+18C>T	noncoding	Benign
18	70166955	G	A	G70166955A	RTTN	NM_173630.4(RTTN):c.1766C>T:p.Pro589Leu	coding	Benign
18	70167195	G	T	G70167195T	RTTN	NM_173630.4(RTTN):c.1690-164C>A	noncoding	Benign
18	70168920	G	A	G70168920A	RTTN	NM_173630.4(RTTN):c.1624C>T:p.Arg542Ter	coding	Pathogenic
18	70190524	C	T	C70190524T	RTTN	NM_173630.4(RTTN):c.1189+14G>A	noncoding	Benign
18	70190604	G	A	G70190604A	RTTN	NM_173630.4(RTTN):c.1123C>T:p.Gln375Ter	coding	Pathogenic
18	70193083	C	T	C70193083T	RTTN	NM_173630.4(RTTN):c.1007+205G>A	noncoding	Benign
18	70193176	C	A	C70193176A	RTTN	NM_173630.4(RTTN):c.1007+112G>T	noncoding	Benign
18	70193483	T	C	T70193483C	RTTN	NM_173630.4(RTTN):c.842-30A>G	noncoding	Benign
18	70196490	A	G	A70196490G	RTTN	NM_173630.4(RTTN):c.841+11T>C	noncoding	Benign/Likely_benign
18	70197644	G	A	G70197644A	RTTN	NM_173630.4(RTTN):c.673C>T:p.Gln225Ter	coding	Pathogenic
18	70198077	T	C	T70198077C	RTTN	NM_173630.4(RTTN):c.579-339A>G	noncoding	Benign
18	70199299	A	T	A70199299T	RTTN	NM_173630.4(RTTN):c.578+115T>A	noncoding	Benign
18	70199498	T	G	T70199498G	RTTN	NM_173630.4(RTTN):c.494A>C:p.Gln165Pro	coding	Benign/Likely_benign
18	70199519	G	A	G70199519A	RTTN	NM_173630.4(RTTN):c.488-15C>T	noncoding	Benign/Likely_benign
18	70201777	A	G	A70201777G	RTTN	NM_173630.4(RTTN):c.487+117T>C	noncoding	Benign
18	70202151	T	C	T70202151C	RTTN	NM_173630.4(RTTN):c.398-168A>G	noncoding	Benign
18	70203992	G	A	G70203992A	RTTN	NM_173630.4(RTTN):c.397+94C>T	noncoding	Benign
18	70204201	C	A	C70204201A	RTTN	NM_173630.4(RTTN):c.282G>T:p.Arg94=	coding	Benign/Likely_benign
18	70204524	T	C	T70204524C	RTTN	NM_173630.4(RTTN):c.220-261A>G	noncoding	Benign
18	70205259	C	A	C70205259A	RTTN	NM_173630.4(RTTN):c.88G>T:p.Glu30Ter	coding	Pathogenic
18	70205542	C	T	C70205542T	RTTN	NM_173630.4(RTTN):c.31+86G>A	noncoding	Benign
18	70205610	G	A	G70205610A	RTTN	NM_173630.4(RTTN):c.31+18C>T	noncoding	Benign
18	72538166	G	A	G72538166A	CBLN2	NM_182511.4(CBLN2):c.*10C>T	noncoding	Benign
18	72541663	G	T	G72541663T	CBLN2	NM_182511.4(CBLN2):c.357+141C>A	noncoding	Benign
18	72541942	C	T	C72541942T	CBLN2	NM_182511.4(CBLN2):c.219G>A:p.Ser73=	coding	Benign
18	72542086	C	A	C72542086A	CBLN2	NM_182511.4(CBLN2):c.75G>T:p.Pro25=	coding	Benign
18	72542245	T	C	T72542245C	CBLN2	NM_182511.4(CBLN2):c.-85A>G	noncoding	Benign
18	72542275	G	C	G72542275C	CBLN2	NM_182511.4(CBLN2):c.-115C>G	noncoding	Benign
18	72542403	C	T	C72542403T	CBLN2	NM_182511.4(CBLN2):c.-166-77G>A	noncoding	Benign
18	72542514	C	A	C72542514A	CBLN2	NM_182511.4(CBLN2):c.-166-188G>T	noncoding	Benign
18	72542657	G	A	G72542657A	CBLN2	NM_182511.4(CBLN2):c.-166-331C>T	noncoding	Benign
18	74260915	C	T	C74260915T	CYB5A	NM_148923.4(CYB5A):c.288G>A:p.Pro96=	coding	Benign
18	74263490	G	T	G74263490T	CYB5A	NM_148923.4(CYB5A):c.130-13C>A	noncoding	Benign
18	74291736	C	A	C74291736A	CYB5A	NM_148923.4(CYB5A):c.129+11G>T	noncoding	Benign
18	74291840	G	A	G74291840A	CYB5A	NM_148923.4(CYB5A):c.36C>T:p.Tyr12=	coding	Benign
18	74632267	T	C	T74632267C	ZNF407	NM_017757.3(ZNF407):c.1248T>C:p.Pro416=	coding	Benign
18	74632282	C	T	C74632282T	ZNF407	NM_017757.3(ZNF407):c.1263C>T:p.Leu421=	coding	Benign
18	74632553	G	A	G74632553A	ZNF407	NM_017757.3(ZNF407):c.1534G>A:p.Gly512Arg	coding	Benign
18	74881045	C	G	C74881045G	ZNF407	NM_017757.3(ZNF407):c.5054C>G:p.Ser1685Trp	coding	Pathogenic
18	75285722	C	T	C75285722T	TSHZ1	NM_001308210.2(TSHZ1):c.315C>T:p.Ser105=	coding	Benign
18	75286049	T	C	T75286049C	TSHZ1	NM_001308210.2(TSHZ1):c.642T>C:p.Tyr214=	coding	Benign
18	75286313	T	C	T75286313C	TSHZ1	NM_001308210.2(TSHZ1):c.906T>C:p.Asp302=	coding	Benign
18	75286931	T	C	T75286931C	TSHZ1	NM_001308210.2(TSHZ1):c.1524T>C:p.Pro508=	coding	Benign
18	75286944	G	A	G75286944A	TSHZ1	NM_001308210.2(TSHZ1):c.1537G>A:p.Ala513Thr	coding	Benign
18	75287404	T	C	T75287404C	TSHZ1	NM_001308210.2(TSHZ1):c.1997T>C:p.Leu666Pro	coding	Benign
18	79410477	C	A	C79410477A	NFATC1	NM_001278669.2(NFATC1):c.202C>A:p.Pro68Thr	coding	Benign
18	79410542	C	T	C79410542T	NFATC1	NM_001278669.2(NFATC1):c.267C>T:p.Tyr89=	coding	Benign
18	79410842	C	T	C79410842T	NFATC1	NM_001278669.2(NFATC1):c.567C>T:p.Tyr189=	coding	Benign
18	79411061	T	G	T79411061G	NFATC1	NM_001278669.2(NFATC1):c.786T>G:p.Pro262=	coding	Benign
18	79411344	C	G	C79411344G	NFATC1	NM_001278669.2(NFATC1):c.1069C>G:p.Leu357Val	coding	Benign
18	79411379	C	T	C79411379T	NFATC1	NM_001278669.2(NFATC1):c.1104C>T:p.Pro368=	coding	Benign
18	79411518	G	A	G79411518A	NFATC1	NM_001278669.2(NFATC1):c.1226+17G>A	noncoding	Benign
18	79433591	C	T	C79433591T	NFATC1	NM_001278669.2(NFATC1):c.1239C>T:p.Pro413=	coding	Benign
18	79433678	C	T	C79433678T	NFATC1	NM_001278669.2(NFATC1):c.1326C>T:p.Tyr442=	coding	Benign
18	79448856	C	T	C79448856T	NFATC1	NM_001278669.2(NFATC1):c.1461C>T:p.Arg487=	coding	Benign
18	79448922	C	T	C79448922T	NFATC1	NM_001278669.2(NFATC1):c.1527C>T:p.Ala509=	coding	Benign
18	79451764	T	C	T79451764C	NFATC1	NM_001278669.2(NFATC1):c.1851T>C:p.Ser617=	coding	Benign
18	79467473	G	A	G79467473A	NFATC1	NM_001278669.2(NFATC1):c.1983G>A:p.Pro661=	coding	Benign
18	79467476	A	G	A79467476G	NFATC1	NM_001278669.2(NFATC1):c.1986A>G:p.Pro662=	coding	Benign
18	79467554	C	T	C79467554T	NFATC1	NM_001278669.2(NFATC1):c.2064C>T:p.Tyr688=	coding	Benign
18	79486406	T	G	T79486406G	NFATC1	NM_001278669.2(NFATC1):c.2251T>G:p.Cys751Gly	coding	Benign
18	79486435	G	A	G79486435A	NFATC1	NM_001278669.2(NFATC1):c.2280G>A:p.Ala760=	coding	Benign
18	79486444	C	T	C79486444T	NFATC1	NM_001278669.2(NFATC1):c.2289C>T:p.Gly763=	coding	Benign
18	79486538	G	A	G79486538A	NFATC1	NM_001278669.2(NFATC1):c.2383G>A:p.Gly795Arg	coding	Benign
18	79679532	T	C	T79679532C	CTDP1	NR_136643.1(CTDP1-DT):n.214A>G	noncoding	Benign
18	79679637	G	T	G79679637T	CTDP1	NR_136643.1(CTDP1-DT):n.109C>A	noncoding	Benign
18	79679756	G	A	G79679756A	CTDP1	Single_allele	noncoding	Benign
18	79679844	G	T	G79679844T	CTDP1	NM_004715.5(CTDP1):c.-104G>T	noncoding	Benign
18	79679961	C	A	C79679961A	CTDP1	NM_004715.5(CTDP1):c.14C>A:p.Ala5Asp	coding	Benign
18	79680100	G	C	G79680100C	CTDP1	NM_004715.5(CTDP1):c.153G>C:p.Val51=	coding	Benign
18	79695000	G	C	G79695000C	CTDP1	NM_004715.5(CTDP1):c.315-225G>C	noncoding	Benign
18	79695116	G	A	G79695116A	CTDP1	NM_004715.5(CTDP1):c.315-109G>A	noncoding	Benign
18	79695227	C	T	C79695227T	CTDP1	NM_004715.5(CTDP1):c.317C>T:p.Ala106Val	coding	Benign
18	79695518	C	T	C79695518T	CTDP1	NM_004715.5(CTDP1):c.398+210C>T	noncoding	Benign
18	79695577	C	T	C79695577T	CTDP1	NM_004715.5(CTDP1):c.398+269C>T	noncoding	Benign
18	79695690	C	T	C79695690T	CTDP1	NM_004715.5(CTDP1):c.399-287C>T	noncoding	Benign
18	79695871	C	T	C79695871T	CTDP1	NM_004715.5(CTDP1):c.399-106C>T	noncoding	Benign
18	79696161	G	A	G79696161A	CTDP1	NM_004715.5(CTDP1):c.492+91G>A	noncoding	Benign
18	79696172	A	G	A79696172G	CTDP1	NM_004715.5(CTDP1):c.492+102A>G	noncoding	Benign
18	79696223	G	A	G79696223A	CTDP1	NM_004715.5(CTDP1):c.492+153G>A	noncoding	Benign
18	79696298	G	A	G79696298A	CTDP1	NM_004715.5(CTDP1):c.492+228G>A	noncoding	Benign
18	79698005	T	C	T79698005C	CTDP1	NM_004715.5(CTDP1):c.621+17T>C	noncoding	Benign/Likely_benign
18	79698037	T	C	T79698037C	CTDP1	NM_004715.5(CTDP1):c.621+49T>C	noncoding	Benign
18	79698172	T	C	T79698172C	CTDP1	NM_004715.5(CTDP1):c.621+184T>C	noncoding	Benign
18	79705031	A	G	A79705031G	CTDP1	NM_004715.5(CTDP1):c.772+114A>G	noncoding	Benign
18	79705193	G	A	G79705193A	CTDP1	NM_004715.5(CTDP1):c.772+276G>A	noncoding	Benign
18	79710122	A	G	A79710122G	CTDP1	NM_004715.5(CTDP1):c.773-224A>G	noncoding	Benign
18	79710451	G	A	G79710451A	CTDP1	NM_004715.5(CTDP1):c.863+15G>A	noncoding	Benign
18	79715573	G	C	G79715573C	CTDP1	NM_004715.5(CTDP1):c.2068+45G>C	noncoding	Benign
18	79715659	A	G	A79715659G	CTDP1	NM_004715.5(CTDP1):c.2068+131A>G	noncoding	Benign
18	79717372	C	G	C79717372G	CTDP1	NM_004715.5(CTDP1):c.2069-163C>G	noncoding	Benign
18	79717379	G	A	G79717379A	CTDP1	NM_004715.5(CTDP1):c.2069-156G>A	noncoding	Benign
18	79717521	C	T	C79717521T	CTDP1	NM_004715.5(CTDP1):c.2069-14C>T	noncoding	Benign
18	79717656	C	T	C79717656T	CTDP1	NM_004715.5(CTDP1):c.2190C>T:p.Asp730=	coding	Benign
18	79729169	G	A	G79729169A	CTDP1	NM_004715.5(CTDP1):c.2580+100G>A	noncoding	Benign
18	79729324	G	A	G79729324A	CTDP1	NM_004715.5(CTDP1):c.2580+255G>A	noncoding	Benign
18	79736516	G	T	G79736516T	CTDP1	NM_004715.5(CTDP1):c.2742G>T:p.Gly914=	coding	Benign
18	79753465	G	A	G79753465A	CTDP1	NM_004715.5(CTDP1):c.2748-187G>A	noncoding	Benign
18	79753495	C	T	C79753495T	CTDP1	NM_004715.5(CTDP1):c.2748-157C>T	noncoding	Benign
18	79753648	G	T	G79753648T	CTDP1	NM_004715.5(CTDP1):c.2748-4G>T	noncoding	Benign
18	79753841	G	A	G79753841A	CTDP1	NM_004715.5(CTDP1):c.*51G>A	noncoding	Benign
18	79973859	G	C	G79973859C	TXNL4A	NM_006701.5(TXNL4A):c.258-3C>G	noncoding	Pathogenic
18	79973976	A	G	A79973976G	TXNL4A	NM_006701.5(TXNL4A):c.258-120T>C	noncoding	Benign
18	79977397	C	T	C79977397T	TXNL4A	NM_006701.5(TXNL4A):c.257+201G>A	noncoding	Benign
18	79986403	T	A	T79986403A	TXNL4A	NM_006701.5(TXNL4A):c.153+1837A>T	noncoding	Benign
18	79986623	T	C	T79986623C	TXNL4A	NM_006701.5(TXNL4A):c.153+1617A>G	coding	Benign
18	79986891	T	C	T79986891C	TXNL4A	NM_006701.5(TXNL4A):c.153+1349A>G	noncoding	Benign
18	79988525	A	C	A79988525C	TXNL4A	NM_006701.5(TXNL4A):c.-133T>G	noncoding	Benign
19	582982	C	T	C582982T	BSG	NM_001728.4(BSG):c.*238C>T	noncoding	Benign
19	590172	G	A	G590172A	HCN2	NM_001194.4(HCN2):c.227G>A:p.Arg76His	coding	Benign
19	590322	C	T	C590322T	HCN2	NM_001194.4(HCN2):c.377C>T:p.Ser126Leu	coding	Pathogenic
19	590323	G	T	G590323T	HCN2	NM_001194.4(HCN2):c.378G>T:p.Ser126=	coding	Benign
19	603769	T	C	T603769C	HCN2	NM_001194.4(HCN2):c.858T>C:p.Tyr286=	coding	Benign
19	603826	C	T	C603826T	HCN2	NM_001194.4(HCN2):c.915C>T:p.Phe305=	coding	Benign
19	603832	C	T	C603832T	HCN2	NM_001194.4(HCN2):c.921C>T:p.Ile307=	coding	Benign
19	603874	C	T	C603874T	HCN2	NM_001194.4(HCN2):c.963C>T:p.Arg321=	coding	Benign
19	605171	T	C	T605171C	HCN2	NM_001194.4(HCN2):c.1167T>C:p.Pro389=	coding	Benign
19	610243	C	G	C610243G	HCN2	NM_001194.4(HCN2):c.1438-16C>G	noncoding	Benign
19	610273	G	A	G610273A	HCN2	NM_001194.4(HCN2):c.1452G>A:p.Glu484=	coding	Benign
19	613307	C	T	C613307T	HCN2	NM_001194.4(HCN2):c.1644C>T:p.Ala548=	coding	Benign
19	616057	G	C	G616057C	HCN2	NM_001194.4(HCN2):c.2253G>C:p.Ala751=	coding	Benign
19	616429	G	T	G616429T	HCN2	NM_001194.4(HCN2):c.2625G>T:p.Leu875=	coding	Benign/Likely_benign
19	619574	T	G	T619574G	POLRMT	NM_005035.4(POLRMT):c.3066+12A>C	noncoding	Benign
19	619615	G	A	G619615A	POLRMT	NM_005035.4(POLRMT):c.3037C>T:p.Arg1013Cys	coding	Pathogenic
19	619772	G	C	G619772C	POLRMT	NM_005035.4(POLRMT):c.2887-7C>G	noncoding	Benign
19	620069	G	T	G620069T	POLRMT	NM_005035.4(POLRMT):c.2775C>A:p.Cys925Ter	coding	Pathogenic
19	620488	C	G	C620488G	POLRMT	NM_005035.4(POLRMT):c.2641-1G>C	coding	Pathogenic
19	621090	C	T	C621090T	POLRMT	NM_005035.4(POLRMT):c.2608G>A:p.Asp870Asn	coding	Pathogenic
19	621270	G	A	G621270A	POLRMT	NM_005035.4(POLRMT):c.2428C>T:p.Pro810Ser	coding	Pathogenic
19	621775	G	C	G621775C	POLRMT	NM_005035.4(POLRMT):c.1923C>G:p.Phe641Leu	coding	Pathogenic
19	622168	G	A	G622168A	POLRMT	NM_005035.4(POLRMT):c.1832C>T:p.Ser611Phe	coding	Pathogenic
19	629303	C	T	C629303T	POLRMT	NM_005035.4(POLRMT):c.822+237G>A	noncoding	Benign
19	629614	G	C	G629614C	POLRMT	NM_005035.4(POLRMT):c.748C>G:p.His250Asp	coding	Pathogenic
19	629917	G	A	G629917A	POLRMT	NM_005035.4(POLRMT):c.445C>T:p.Gln149Ter	coding	Pathogenic
19	726200	G	A	G726200A	PALM	NM_002579.3(PALM):c.57+11G>A	noncoding	Benign
19	726202	C	T	C726202T	PALM	NM_002579.3(PALM):c.57+13C>T	noncoding	Benign
19	727097	G	A	G727097A	PALM	NM_002579.3(PALM):c.138+9G>A	noncoding	Benign
19	727105	G	A	G727105A	PALM	NM_002579.3(PALM):c.138+17G>A	noncoding	Benign
19	727544	C	G	C727544G	PALM	NM_002579.3(PALM):c.139-20C>G	noncoding	Benign
19	727550	T	C	T727550C	PALM	NM_002579.3(PALM):c.139-14T>C	noncoding	Benign
19	727552	C	T	C727552T	PALM	NM_002579.3(PALM):c.139-12C>T	noncoding	Benign
19	727605	G	A	G727605A	PALM	NM_002579.3(PALM):c.180G>A:p.Pro60=	coding	Benign
19	731144	A	G	A731144G	PALM	NM_002579.3(PALM):c.319A>G:p.Thr107Ala	coding	Benign
19	731176	A	G	A731176G	PALM	NM_002579.3(PALM):c.351A>G:p.Pro117=	coding	Benign
19	734214	C	G	C734214G	PALM	NM_002579.3(PALM):c.442+20C>G	noncoding	Benign
19	740436	G	A	G740436A	PALM	NM_002579.3(PALM):c.587G>A:p.Arg196Gln	coding	Benign
19	740490	G	A	G740490A	PALM	NM_002579.3(PALM):c.634+7G>A	noncoding	Benign
19	746301	C	T	C746301T	PALM	NM_002579.3(PALM):c.651C>T:p.Asp217=	coding	Benign
19	746307	C	T	C746307T	PALM	NM_002579.3(PALM):c.657C>T:p.Thr219=	coding	Benign
19	746316	C	T	C746316T	PALM	NM_002579.3(PALM):c.666C>T:p.Asn222=	coding	Benign
19	746409	G	A	G746409A	PALM	NM_002579.3(PALM):c.759G>A:p.Ala253=	coding	Benign
19	746498	C	T	C746498T	PALM	NM_002579.3(PALM):c.848C>T:p.Ala283Val	coding	Benign
19	746526	C	T	C746526T	PALM	NM_002579.3(PALM):c.876C>T:p.Pro292=	coding	Benign
19	746541	G	A	G746541A	PALM	NM_002579.3(PALM):c.891G>A:p.Pro297=	coding	Benign
19	746712	C	T	C746712T	PALM	NM_002579.3(PALM):c.1062C>T:p.Ala354=	coding	Benign
19	746742	C	T	C746742T	PALM	NM_002579.3(PALM):c.1092C>T:p.Pro364=	coding	Benign
19	797517	G	C	G797517C	PTBP1	NM_002819.5(PTBP1):c.8+12G>C	noncoding	Benign
19	852033	T	C	T852033C	ELANE	Single_allele	noncoding	Benign
19	852044	C	T	C852044T	ELANE	Single_allele	noncoding	Benign
19	852196	C	T	C852196T	ELANE	Single_allele	noncoding	Benign
19	852205	C	T	C852205T	ELANE	Single_allele	noncoding	Benign
19	852234	C	T	C852234T	ELANE	Single_allele	noncoding	Benign
19	852238	C	G	C852238G	ELANE	Single_allele	noncoding	Benign
19	852285	G	C	G852285C	ELANE	Single_allele	noncoding	Benign
19	852287	G	A	G852287A	ELANE	Single_allele	noncoding	Benign
19	852318	C	T	C852318T	ELANE	NM_001972.4(ELANE):c.-11C>T	noncoding	Benign
19	852329	A	G	A852329G	ELANE	NM_001972.4(ELANE):c.1A>G:p.Met1Val	coding	Pathogenic
19	852330	T	C	T852330C	ELANE	NM_001972.4(ELANE):c.2T>C:p.Met1Thr	coding	Pathogenic
19	852349	C	T	C852349T	ELANE	NM_001972.4(ELANE):c.21C>T:p.Leu7=	coding	Benign/Likely_benign
19	852391	G	T	G852391T	ELANE	NM_001972.4(ELANE):c.63G>T:p.Leu21=	coding	Benign/Likely_benign
19	852594	A	G	A852594G	ELANE	NM_001972.4(ELANE):c.67+199A>G	noncoding	Benign
19	852747	G	A	G852747A	ELANE	NM_001972.4(ELANE):c.68-129G>A	noncoding	Benign
19	852770	G	A	G852770A	ELANE	NM_001972.4(ELANE):c.68-106G>A	noncoding	Benign
19	852792	T	C	T852792C	ELANE	NM_001972.4(ELANE):c.68-84T>C	noncoding	Benign
19	852797	G	A	G852797A	ELANE	NM_001972.4(ELANE):c.68-79G>A	noncoding	Benign
19	852812	C	T	C852812T	ELANE	NM_001972.4(ELANE):c.68-64C>T	noncoding	Benign
19	852815	T	A	T852815A	ELANE	NM_001972.4(ELANE):c.68-61T>A	noncoding	Benign
19	852857	G	A	G852857A	ELANE	NM_001972.4(ELANE):c.68-19G>A	noncoding	Benign
19	852861	C	A	C852861A	ELANE	NM_001972.4(ELANE):c.68-15C>A	noncoding	Benign
19	852972	G	C	G852972C	ELANE	NM_001972.4(ELANE):c.164G>C:p.Cys55Ser	coding	Pathogenic
19	852977	G	A	G852977A	ELANE	NM_001972.4(ELANE):c.169G>A:p.Ala57Thr	coding	Pathogenic/Likely_pathogenic
19	852982	C	T	C852982T	ELANE	NM_001972.4(ELANE):c.174C>T:p.Thr58=	coding	Benign/Likely_benign
19	853009	G	T	G853009T	ELANE	NM_001972.4(ELANE):c.201G>T:p.Ser67=	coding	Benign/Likely_benign
19	853012	C	T	C853012T	ELANE	NM_001972.4(ELANE):c.204C>T:p.Ala68=	coding	Benign
19	853063	C	G	C853063G	ELANE	NM_001972.4(ELANE):c.224+31C>G	noncoding	Benign
19	853196	G	T	G853196T	ELANE	NM_001972.4(ELANE):c.225-66G>T	noncoding	Benign
19	853340	G	A	G853340A	ELANE	NM_001972.4(ELANE):c.303G>A:p.Val101=	coding	Benign
19	853413	G	A	G853413A	ELANE	NM_001972.4(ELANE):c.366+10G>A	noncoding	Benign
19	853415	C	A	C853415A	ELANE	NM_001972.4(ELANE):c.366+12C>A	noncoding	Benign/Likely_benign
19	853435	C	T	C853435T	ELANE	NM_001972.4(ELANE):c.366+32C>T	noncoding	Benign
19	853469	G	C	G853469C	ELANE	NM_001972.4(ELANE):c.366+66G>C	noncoding	Benign
19	853528	G	A	G853528A	ELANE	NM_001972.4(ELANE):c.366+125G>A	noncoding	Benign
19	853538	C	T	C853538T	ELANE	NM_001972.4(ELANE):c.366+135C>T	noncoding	Benign
19	855404	C	T	C855404T	ELANE	NM_001972.4(ELANE):c.367-160C>T	noncoding	Benign
19	855556	C	A	C855556A	ELANE	NM_001972.4(ELANE):c.367-8C>A	noncoding	Pathogenic
19	855556	C	T	C855556T	ELANE	NM_001972.4(ELANE):c.367-8C>T	noncoding	Benign/Likely_benign
19	855569	C	T	C855569T	ELANE	NM_001972.4(ELANE):c.372C>T:p.Asn124=	coding	Benign/Likely_benign
19	855716	C	A	C855716A	ELANE	NM_001972.4(ELANE):c.519C>A:p.Asn173Lys	coding	Benign
19	855859	C	T	C855859T	ELANE	NM_001972.4(ELANE):c.597+65C>T	noncoding	Benign
19	855860	G	A	G855860A	ELANE	NM_001972.4(ELANE):c.597+66G>A	noncoding	Benign
19	856047	C	T	C856047T	ELANE	NM_001972.4(ELANE):c.687C>T:p.Pro229=	coding	Benign/Likely_benign
19	856082	G	A	G856082A	ELANE	NM_001972.4(ELANE):c.722G>A:p.Trp241Ter	coding	Pathogenic/Likely_pathogenic
19	856106	C	T	C856106T	ELANE	NM_001972.4(ELANE):c.746C>T:p.Ser249Phe	coding	Benign/Likely_benign
19	856204	C	G	C856204G	ELANE	NM_001972.4(ELANE):c.*40C>G	noncoding	Benign
19	856232	C	G	C856232G	ELANE	NM_001972.4(ELANE):c.*68C>G	noncoding	Benign
19	860604	C	T	C860604T	CFD	NM_001928.4(CFD):c.56-13C>T	noncoding	Benign
19	860714	C	A	C860714A	CFD	NM_001928.4(CFD):c.153C>A:p.Cys51Ter	coding	Pathogenic
19	860766	G	A	G860766A	CFD	NM_001928.4(CFD):c.205G>A:p.Glu69Lys	coding	Benign
19	860784	G	A	G860784A	CFD	NM_001928.4(CFD):c.212+11G>A	noncoding	Benign
19	860933	C	A	C860933A	CFD	NM_001928.4(CFD):c.285C>A:p.Tyr95Ter	coding	Pathogenic
19	861021	C	A	C861021A	CFD	NM_001928.4(CFD):c.357+16C>A	noncoding	Benign
19	861692	C	T	C861692T	CFD	NM_001928.4(CFD):c.358-7C>T	noncoding	Benign
19	861770	A	G	A861770G	CFD	NM_001928.4(CFD):c.429A>G:p.Ala143=	coding	Benign
19	861916	G	A	G861916A	CFD	NM_001928.4(CFD):c.575G>A:p.Arg192His	coding	Benign
19	863077	G	C	G863077C	CFD	NM_001928.4(CFD):c.616-15G>C	noncoding	Benign
19	863118	C	T	C863118T	CFD	NM_001928.4(CFD):c.642C>T:p.Cys214=	coding	Benign
19	863220	C	G	C863220G	CFD	NM_001928.4(CFD):c.744C>G:p.Ile248Met	coding	Benign
19	917380	C	T	C917380T	KISS1R	NM_032551.5(KISS1R):c.-123C>T	noncoding	Benign
19	917520	G	A	G917520A	KISS1R	NM_032551.5(KISS1R):c.18G>A:p.Thr6=	coding	Benign
19	917874	C	T	C917874T	KISS1R	NM_032551.5(KISS1R):c.244+128C>T	noncoding	Benign
19	918402	C	T	C918402T	KISS1R	NM_032551.5(KISS1R):c.245-142C>T	noncoding	Benign
19	918510	G	A	G918510A	KISS1R	NM_032551.5(KISS1R):c.245-34G>A	noncoding	Benign
19	918604	T	C	T918604C	KISS1R	NM_032551.5(KISS1R):c.305T>C:p.Leu102Pro	coding	Pathogenic/Likely_pathogenic
19	918831	A	C	A918831C	KISS1R	NM_032551.5(KISS1R):c.369+163A>C	noncoding	Benign
19	919656	A	G	A919656G	KISS1R	NM_032551.5(KISS1R):c.505+31A>G	noncoding	Benign
19	919814	G	T	G919814T	KISS1R	NM_032551.5(KISS1R):c.506-60G>T	noncoding	Benign
19	920170	G	T	G920170T	KISS1R	NM_032551.5(KISS1R):c.738+64G>T	noncoding	Benign
19	920252	C	A	C920252A	KISS1R	NM_032551.5(KISS1R):c.739-38C>A	noncoding	Benign
19	920706	G	A	G920706A	KISS1R	NM_032551.5(KISS1R):c.1155G>A:p.Ala385=	coding	Benign
19	964434	G	A	G964434A	ARID3A	NM_005224.3(ARID3A):c.950+3G>A	noncoding	Benign
19	1000421	A	G	A1000421G	GRIN3B	NM_138690.3(GRIN3B):c.-17A>G	noncoding	Benign
19	1000786	C	T	C1000786T	GRIN3B	NM_138690.3(GRIN3B):c.349C>T:p.His117Tyr	coding	Benign
19	1005231	C	T	C1005231T	GRIN3B	NM_138690.3(GRIN3B):c.1730C>T:p.Thr577Met	coding	Benign
19	1009586	C	G	C1009586G	GRIN3B	NM_138690.3(GRIN3B):c.3116C>G:p.Pro1039Arg	coding	Benign
19	1042810	A	G	A1042810G	ABCA7	NM_019112.4(ABCA7):c.563A>G:p.Glu188Gly	coding	Benign
19	1045174	G	A	G1045174A	ABCA7	NM_019112.4(ABCA7):c.1388G>A:p.Arg463His	coding	Benign
19	1047337	G	A	G1047337A	ABCA7	NM_019112.4(ABCA7):c.2026G>A:p.Ala676Thr	coding	Benign
19	1047538	A	C	A1047538C	ABCA7	NM_019112.4(ABCA7):c.2153A>C:p.Asn718Thr	coding	Benign
19	1049270	G	A	G1049270A	ABCA7	NM_019112.4(ABCA7):c.2385G>A:p.Leu795=	coding	Benign
19	1051215	A	G	A1051215G	ABCA7	NM_019112.4(ABCA7):c.2745A>G:p.Val915=	coding	Benign
19	1058177	A	G	A1058177G	ABCA7	NM_019112.4(ABCA7):c.5057A>G:p.Gln1686Arg	coding	Benign
19	1059005	A	G	A1059005G	ABCA7	NM_019112.4(ABCA7):c.5401-18A>G	noncoding	Benign
19	1065019	G	T	G1065019T	ABCA7	NM_019112.4(ABCA7):c.6133G>T:p.Ala2045Ser	coding	Benign
19	1068735	T	C	T1068735C	ARHGAP45	NM_012292.5(ARHGAP45):c.412T>C:p.Leu138=	coding	Benign
19	1068739	G	A	G1068739A	ARHGAP45	NM_012292.5(ARHGAP45):c.416G>A:p.Arg139His	coding	Benign
19	1071313	C	T	C1071313T	ARHGAP45	NM_012292.5(ARHGAP45):c.422-1836C>T	coding	Benign
19	1103769	A	T	A1103769T	GPX4	Single_allele	noncoding	Benign
19	1103783	A	G	A1103783G	GPX4	Single_allele	noncoding	Benign
19	1103786	C	T	C1103786T	GPX4	Single_allele	noncoding	Benign
19	1104079	G	A	G1104079A	GPX4	NM_002085.5(GPX4):c.36G>A:p.Pro12=	coding	Benign
19	1104439	G	C	G1104439C	GPX4	NM_002085.5(GPX4):c.84+312G>C	noncoding	Benign
19	1104528	C	G	C1104528G	GPX4	NM_002085.5(GPX4):c.84+401C>G	noncoding	Benign
19	1104564	G	T	G1104564T	GPX4	NM_002085.5(GPX4):c.84+437G>T	noncoding	Benign
19	1104875	C	T	C1104875T	GPX4	NM_002085.5(GPX4):c.85-311C>T	coding	Benign
19	1105311	T	C	T1105311C	GPX4	NM_002085.5(GPX4):c.179+31T>C	noncoding	Benign
19	1105450	C	T	C1105450T	GPX4	NM_002085.5(GPX4):c.264C>T:p.Ala88=	coding	Benign
19	1105522	C	A	C1105522A	GPX4	NM_002085.5(GPX4):c.324+12C>A	noncoding	Benign
19	1105845	T	G	T1105845G	GPX4	NM_002085.5(GPX4):c.476+36T>G	noncoding	Benign
19	1105851	T	G	T1105851G	GPX4	NM_002085.5(GPX4):c.476+42T>G	noncoding	Benign
19	1106478	G	C	G1106478C	GPX4	NM_002085.5(GPX4):c.561+19G>C	noncoding	Benign
19	1106533	C	G	C1106533G	GPX4	NM_002085.5(GPX4):c.562-7C>G	noncoding	Benign
19	1106616	T	C	T1106616C	GPX4	NM_002085.5(GPX4):c.*44T>C	coding	Benign
19	1106846	C	T	C1106846T	GPX4	Single_allele	noncoding	Benign
19	1112944	G	C	G1112944C	SBNO2	NM_014963.3(SBNO2):c.2253C>G:p.Thr751=	coding	Benign
19	1205638	G	T	G1205638T	STK11	Single_allele	noncoding	Benign
19	1206866	C	T	C1206866T	STK11	NM_000455.5(STK11):c.-48C>T	noncoding	Benign
19	1206932	C	T	C1206932T	STK11	NM_000455.5(STK11):c.19C>T:p.Gln7Ter	coding	Pathogenic
19	1206970	G	C	G1206970C	STK11	NM_000455.5(STK11):c.57G>C:p.Ser19=	coding	Benign/Likely_benign
19	1207150	C	T	C1207150T	STK11	NM_000455.5(STK11):c.237C>T:p.Ile79=	coding	Benign/Likely_benign
19	1207281	C	T	C1207281T	STK11	NM_000455.5(STK11):c.290+78C>T	noncoding	Benign
19	1218385	C	T	C1218385T	STK11	NM_000455.5(STK11):c.291-32C>T	noncoding	Benign
19	1218453	T	C	T1218453C	STK11	NM_000455.5(STK11):c.327T>C:p.Asn109=	coding	Benign/Likely_benign
19	1218460	C	T	C1218460T	STK11	NM_000455.5(STK11):c.334C>T:p.Gln112Ter	coding	Pathogenic
19	1218492	G	A	G1218492A	STK11	NM_000455.5(STK11):c.366G>A:p.Lys122=	coding	Benign/Likely_benign
19	1218770	G	T	G1218770T	STK11	NM_000455.5(STK11):c.374+270G>T	noncoding	Benign
19	1219130	G	A	G1219130A	STK11	NM_000455.5(STK11):c.375-194G>A	noncoding	Benign
19	1219225	G	T	G1219225T	STK11	NM_000455.5(STK11):c.375-99G>T	noncoding	Benign
19	1219381	G	A	G1219381A	STK11	NM_000455.5(STK11):c.432G>A:p.Pro144=	coding	Benign/Likely_benign
19	1219403	C	T	C1219403T	STK11	NM_000455.5(STK11):c.454C>T:p.Gln152Ter	coding	Pathogenic
19	1219414	G	A	G1219414A	STK11	NM_000455.5(STK11):c.464+1G>A	coding	Pathogenic/Likely_pathogenic
19	1219414	G	T	G1219414T	STK11	NM_000455.5(STK11):c.464+1G>T	coding	Pathogenic
19	1220178	C	T	C1220178T	STK11	NM_000455.5(STK11):c.465-195C>T	noncoding	Benign
19	1220322	T	C	T1220322C	STK11	NM_000455.5(STK11):c.465-51T>C	noncoding	Benign
19	1220356	G	A	G1220356A	STK11	NM_000455.5(STK11):c.465-17G>A	noncoding	Benign/Likely_benign
19	1220383	C	T	C1220383T	STK11	NM_000455.5(STK11):c.475C>T:p.Gln159Ter	coding	Pathogenic
19	1220466	C	T	C1220466T	STK11	NM_000455.5(STK11):c.558C>T:p.Thr186=	coding	Benign/Likely_benign
19	1220507	T	A	T1220507A	STK11	NM_000455.5(STK11):c.597+2T>A	noncoding	Pathogenic
19	1220567	C	T	C1220567T	STK11	NM_000455.5(STK11):c.598-14C>T	noncoding	Benign/Likely_benign
19	1220580	G	A	G1220580A	STK11	NM_000455.5(STK11):c.598-1G>A	noncoding	Pathogenic
19	1220598	G	A	G1220598A	STK11	NM_000455.5(STK11):c.615G>A:p.Ala205=	coding	Benign/Likely_benign
19	1221162	C	T	C1221162T	STK11	NM_000455.5(STK11):c.735-51C>T	noncoding	Benign
19	1221204	G	A	G1221204A	STK11	NM_000455.5(STK11):c.735-9G>A	noncoding	Benign/Likely_benign
19	1221207	A	G	A1221207G	STK11	NM_000455.5(STK11):c.735-6A>G	noncoding	Pathogenic
19	1221225	C	T	C1221225T	STK11	NM_000455.5(STK11):c.747C>T:p.Thr249=	coding	Benign/Likely_benign
19	1221243	C	T	C1221243T	STK11	NM_000455.5(STK11):c.765C>T:p.Phe255=	coding	Benign/Likely_benign
19	1221262	A	T	A1221262T	STK11	NM_000455.5(STK11):c.784A>T:p.Lys262Ter	coding	Pathogenic
19	1221266	T	A	T1221266A	STK11	NM_000455.5(STK11):c.788T>A:p.Leu263Ter	coding	Pathogenic
19	1221273	G	A	G1221273A	STK11	NM_000455.5(STK11):c.795G>A:p.Glu265=	coding	Benign/Likely_benign
19	1221485	C	T	C1221485T	STK11	NM_000455.5(STK11):c.862+145C>T	noncoding	Benign
19	1221546	C	T	C1221546T	STK11	NM_000455.5(STK11):c.862+206C>T	noncoding	Benign
19	1221654	G	A	G1221654A	STK11	NM_000455.5(STK11):c.863-295G>A	noncoding	Benign
19	1221933	G	A	G1221933A	STK11	NM_000455.5(STK11):c.863-16G>A	noncoding	Benign/Likely_benign
19	1221962	C	G	C1221962G	STK11	NM_000455.5(STK11):c.876C>G:p.Tyr292Ter	coding	Pathogenic
19	1221983	C	T	C1221983T	STK11	NM_000455.5(STK11):c.897C>T:p.Ser299=	coding	Benign/Likely_benign
19	1222002	C	T	C1222002T	STK11	NM_000455.5(STK11):c.916C>T:p.His306Tyr	coding	Pathogenic
19	1222018	C	T	C1222018T	STK11	NM_000455.5(STK11):c.920+12C>T	noncoding	Benign/Likely_benign
19	1222269	A	G	A1222269G	STK11	NM_000455.5(STK11):c.920+263A>G	noncoding	Benign
19	1222973	G	A	G1222973A	STK11	NM_000455.5(STK11):c.921-12G>A	noncoding	Pathogenic
19	1223114	C	T	C1223114T	STK11	NM_000455.5(STK11):c.1050C>T:p.Asp350=	coding	Benign/Likely_benign
19	1223165	G	A	G1223165A	STK11	NM_000455.5(STK11):c.1101G>A:p.Thr367=	coding	Benign/Likely_benign
19	1223371	C	T	C1223371T	STK11	NM_000455.5(STK11):c.1108+199C>T	noncoding	Benign
19	1223703	G	C	G1223703C	STK11	NM_000455.5(STK11):c.1108+531G>C	noncoding	Benign
19	1226441	G	A	G1226441A	STK11	NM_000455.5(STK11):c.1109-13G>A	noncoding	Benign/Likely_benign
19	1226512	C	T	C1226512T	STK11	NM_000455.5(STK11):c.1167C>T:p.Ala389=	coding	Benign/Likely_benign
19	1226524	C	T	C1226524T	STK11	NM_000455.5(STK11):c.1179C>T:p.Asn393=	coding	Benign/Likely_benign
19	1226545	G	A	G1226545A	STK11	NM_000455.5(STK11):c.1200G>A:p.Leu400=	coding	Benign/Likely_benign
19	1226570	C	A	C1226570A	STK11	NM_000455.5(STK11):c.1225C>A:p.Arg409=	coding	Benign/Likely_benign
19	1226669	G	A	G1226669A	STK11	NM_000455.5(STK11):c.*16+6G>A	noncoding	Benign
19	1226672	C	T	C1226672T	STK11	NM_000455.5(STK11):c.*16+9C>T	noncoding	Benign
19	1226773	C	T	C1226773T	STK11	NM_000455.5(STK11):c.*16+110C>T	noncoding	Benign
19	1226880	A	C	A1226880C	STK11	NM_000455.5(STK11):c.*16+217A>C	noncoding	Benign
19	1226902	G	T	G1226902T	STK11	NM_000455.5(STK11):c.*16+239G>T	noncoding	Benign
19	1227582	C	A	C1227582A	STK11	NM_000455.5(STK11):c.*17-11C>A	noncoding	Benign
19	1227587	C	G	C1227587G	STK11	NM_000455.5(STK11):c.*17-6C>G	noncoding	Benign
19	1241875	C	T	C1241875T	ATP5F1D	NM_001687.5(ATP5F1D):c.25C>T:p.Arg9Cys	coding	Benign
19	1242049	C	T	C1242049T	ATP5F1D	NM_001687.5(ATP5F1D):c.141+58C>T	noncoding	Benign
19	1242575	G	C	G1242575C	ATP5F1D	NM_001687.5(ATP5F1D):c.261G>C:p.Val87=	coding	Benign
19	1244113	C	T	C1244113T	ATP5F1D	NM_001687.5(ATP5F1D):c.312C>T:p.Ile104=	coding	Benign
19	1244201	G	C	G1244201C	ATP5F1D	NM_001687.5(ATP5F1D):c.384+16G>C	noncoding	Benign
19	1244296	G	A	G1244296A	ATP5F1D	NM_001687.5(ATP5F1D):c.385-19G>A	noncoding	Benign
19	1244362	A	G	A1244362G	ATP5F1D	NM_001687.5(ATP5F1D):c.432A>G:p.Thr144=	coding	Benign
19	1387918	G	T	G1387918T	NDUFS7	NM_024407.5(NDUFS7):c.53+71G>T	noncoding	Benign
19	1387920	T	G	T1387920G	NDUFS7	NM_024407.5(NDUFS7):c.53+73T>G	noncoding	Benign
19	1387927	T	G	T1387927G	NDUFS7	NM_024407.5(NDUFS7):c.53+80T>G	noncoding	Benign
19	1387934	A	G	A1387934G	NDUFS7	NM_024407.5(NDUFS7):c.53+87A>G	noncoding	Benign
19	1388506	G	A	G1388506A	NDUFS7	NM_024407.5(NDUFS7):c.54-19G>A	noncoding	Benign/Likely_benign
19	1388561	C	T	C1388561T	NDUFS7	NM_024407.5(NDUFS7):c.90C>T:p.Val30=	coding	Benign
19	1389046	T	C	T1389046C	NDUFS7	NM_024407.5(NDUFS7):c.228+108T>C	noncoding	Benign
19	1389065	G	T	G1389065T	NDUFS7	NM_024407.5(NDUFS7):c.228+127G>T	noncoding	Benign
19	1389204	C	T	C1389204T	NDUFS7	NM_024407.5(NDUFS7):c.228+266C>T	noncoding	Benign
19	1389281	G	A	G1389281A	NDUFS7	NM_024407.5(NDUFS7):c.228+343G>A	noncoding	Benign
19	1390758	C	A	C1390758A	NDUFS7	NM_024407.5(NDUFS7):c.229-113C>A	noncoding	Benign
19	1391068	C	T	C1391068T	NDUFS7	NM_024407.5(NDUFS7):c.408+18C>T	noncoding	Benign/Likely_benign
19	1391236	G	A	G1391236A	NDUFS7	NM_024407.5(NDUFS7):c.455+71G>A	noncoding	Benign
19	1393470	C	T	C1393470T	NDUFS7	NM_024407.5(NDUFS7):c.544+140C>T	noncoding	Benign
19	1395227	C	T	C1395227T	NDUFS7	NM_024407.5(NDUFS7):c.545-164C>T	noncoding	Benign
19	1395302	A	G	A1395302G	NDUFS7	NM_024407.5(NDUFS7):c.545-89A>G	noncoding	Benign
19	1397048	G	C	G1397048C	GAMT;NDUFS7	NM_000156.6(GAMT):c.*311C>G	noncoding	Benign/Likely_benign
19	1397083	G	A	G1397083A	GAMT;NDUFS7	NM_000156.6(GAMT):c.*276C>T	noncoding	Benign/Likely_benign
19	1397208	A	G	A1397208G	GAMT;NDUFS7	NM_000156.6(GAMT):c.*151T>C	noncoding	Benign/Likely_benign
19	1398982	G	C	G1398982C	GAMT	NM_000156.6(GAMT):c.504C>G:p.Tyr168Ter	coding	Pathogenic
19	1399005	T	A	T1399005A	GAMT	NM_000156.6(GAMT):c.481A>T:p.Lys161Ter	coding	Pathogenic/Likely_pathogenic
19	1399010	A	G	A1399010G	GAMT	NM_000156.6(GAMT):c.476T>C:p.Leu159Pro	coding	Pathogenic
19	1399145	G	A	G1399145A	GAMT	NM_000156.6(GAMT):c.442C>T:p.Gln148Ter	coding	Pathogenic
19	1399155	C	T	C1399155T	GAMT	NM_000156.6(GAMT):c.432G>A:p.Trp144Ter	coding	Pathogenic
19	1399180	G	A	G1399180A	GAMT	NM_000156.6(GAMT):c.407C>T:p.Thr136Met	coding	Pathogenic/Likely_pathogenic
19	1399184	C	T	C1399184T	GAMT	NM_000156.6(GAMT):c.403G>A:p.Asp135Asn	coding	Pathogenic/Likely_pathogenic
19	1399477	T	C	T1399477C	GAMT	NM_000156.6(GAMT):c.391+47A>G	noncoding	Benign
19	1399565	C	T	C1399565T	GAMT	NM_000156.6(GAMT):c.350G>A:p.Trp117Ter	coding	Pathogenic
19	1399724	A	C	A1399724C	GAMT	NM_000156.6(GAMT):c.327+69T>G	noncoding	Benign
19	1399815	C	T	C1399815T	GAMT	NM_000156.6(GAMT):c.305G>A:p.Trp102Ter	coding	Pathogenic
19	1399831	G	A	G1399831A	GAMT	NM_000156.6(GAMT):c.289C>T:p.Gln97Ter	coding	Pathogenic
19	1400246	T	C	T1400246C	GAMT	NM_000156.6(GAMT):c.182-308A>G	noncoding	Benign
19	1401474	C	T	C1401474T	GAMT	NM_000156.6(GAMT):c.3G>A:p.Met1Ile	coding	Pathogenic
19	1401475	A	G	A1401475G	GAMT	NM_000156.6(GAMT):c.2T>C:p.Met1Thr	coding	Pathogenic
19	1453161	G	A	G1453161A	APC2	NM_005883.3(APC2):c.141+19G>A	noncoding	Benign
19	1453309	G	A	G1453309A	APC2	NM_005883.3(APC2):c.204G>A:p.Gly68=	coding	Benign
19	1453706	T	C	T1453706C	APC2	NM_005883.3(APC2):c.413+95T>C	noncoding	Benign
19	1456115	C	T	C1456115T	APC2	NM_005883.3(APC2):c.679C>T:p.Leu227=	coding	Benign
19	1457003	G	C	G1457003C	APC2	NM_005883.3(APC2):c.967G>C:p.Gly323Arg	coding	Benign
19	1457099	G	A	G1457099A	APC2	NM_005883.3(APC2):c.1063G>A:p.Val355Ile	coding	Pathogenic
19	1460194	C	T	C1460194T	APC2	NM_005883.3(APC2):c.1317C>T:p.Ala439=	coding	Benign
19	1462193	C	A	C1462193A	APC2	NM_005883.3(APC2):c.1853+16C>A	noncoding	Benign
19	1465449	C	G	C1465449G	APC2	NM_005883.3(APC2):c.2148C>G:p.Pro716=	coding	Benign
19	1466146	G	A	G1466146A	APC2	NM_005883.3(APC2):c.2845G>A:p.Ala949Thr	coding	Benign
19	1466253	C	A	C1466253A	APC2	NM_005883.3(APC2):c.2952C>A:p.Thr984=	coding	Benign
19	1467668	G	C	G1467668C	APC2	NM_005883.3(APC2):c.4367G>C:p.Arg1456Pro	coding	Benign
19	1467685	A	C	A1467685C	APC2	NM_005883.3(APC2):c.4384A>C:p.Arg1462=	coding	Benign
19	1467771	C	T	C1467771T	APC2	NM_005883.3(APC2):c.4470C>T:p.Asp1490=	coding	Benign
19	1467804	C	T	C1467804T	APC2	NM_005883.3(APC2):c.4503C>T:p.Pro1501=	coding	Benign
19	1469031	A	G	A1469031G	APC2	NM_005883.3(APC2):c.5730A>G:p.Lys1910=	coding	Benign
19	1469531	C	G	C1469531G	APC2	NM_005883.3(APC2):c.6230C>G:p.Thr2077Ser	coding	Benign
19	1469921	C	T	C1469921T	APC2	NM_005883.3(APC2):c.6620C>T:p.Pro2207Leu	coding	Pathogenic
19	1495278	C	T	C1495278T	REEP6	NM_138393.4(REEP6):c.116-16C>T	noncoding	Benign
19	1495455	C	T	C1495455T	REEP6	NM_138393.4(REEP6):c.210-14C>T	noncoding	Benign
19	1495514	G	A	G1495514A	REEP6	NM_138393.4(REEP6):c.255G>A:p.Trp85Ter	coding	Pathogenic
19	1495624	C	T	C1495624T	REEP6	NM_138393.4(REEP6):c.348+17C>T	noncoding	Benign
19	1495635	G	A	G1495635A	REEP6	NM_138393.4(REEP6):c.348+28G>A	noncoding	Benign
19	1496264	A	G	A1496264G	REEP6	NM_138393.4(REEP6):c.349-21A>G	noncoding	Benign
19	1496284	G	A	G1496284A	REEP6	NM_138393.4(REEP6):c.349-1G>A	noncoding	Pathogenic
19	1496417	C	T	C1496417T	REEP6	NM_138393.4(REEP6):c.481C>T:p.Arg161Ter	coding	Pathogenic
19	1496469	C	T	C1496469T	REEP6	NM_138393.4(REEP6):c.517+16C>T	noncoding	Benign
19	1496631	G	A	G1496631A	REEP6	NM_001329556.3(REEP6):c.558G>A:p.Pro186=	noncoding	Benign
19	1497061	C	T	C1497061T	REEP6	NM_138393.4(REEP6):c.518-113C>T	noncoding	Benign
19	1497122	G	T	G1497122T	REEP6	NM_138393.4(REEP6):c.518-52G>T	noncoding	Benign
19	1497145	C	T	C1497145T	REEP6	NM_138393.4(REEP6):c.518-29C>T	noncoding	Benign
19	1611857	G	A	G1611857A	TCF3	NM_003200.5(TCF3):c.1823-8C>T	noncoding	Benign
19	1612428	G	A	G1612428A	TCF3	NM_001136139.4(TCF3):c.1592C>T:p.Thr531Met	coding	Benign
19	1615537	G	A	G1615537A	TCF3	NM_003200.5(TCF3):c.1587-17C>T	noncoding	Benign
19	1615665	T	G	T1615665G	TCF3	NM_003200.5(TCF3):c.1586+21A>C	noncoding	Benign
19	1615669	G	A	G1615669A	TCF3	NM_003200.5(TCF3):c.1586+17C>T	noncoding	Benign
19	1615748	C	T	C1615748T	TCF3	NM_003200.5(TCF3):c.1524G>A:p.Thr508=	coding	Benign
19	1615760	G	A	G1615760A	TCF3	NM_003200.5(TCF3):c.1512C>T:p.Asp504=	coding	Benign
19	1615813	G	A	G1615813A	TCF3	NM_003200.5(TCF3):c.1459C>T:p.Arg487Ter	coding	Pathogenic
19	1615832	C	T	C1615832T	TCF3	NM_003200.5(TCF3):c.1451-11G>A	noncoding	Benign
19	1619123	C	T	C1619123T	TCF3	NM_003200.5(TCF3):c.1438G>A:p.Asp480Asn	coding	Benign
19	1619334	G	A	G1619334A	TCF3	NM_003200.5(TCF3):c.1308C>T:p.Gly436=	coding	Benign
19	1619340	T	C	T1619340C	TCF3	NM_003200.5(TCF3):c.1302A>G:p.Ser434=	coding	Benign
19	1619349	G	A	G1619349A	TCF3	NM_003200.5(TCF3):c.1293C>T:p.Gly431=	coding	Benign
19	1619371	G	A	G1619371A	TCF3	NM_003200.5(TCF3):c.1271C>T:p.Ala424Val	coding	Benign
19	1619454	G	A	G1619454A	TCF3	NM_003200.5(TCF3):c.1188C>T:p.His396=	coding	Benign
19	1619765	G	A	G1619765A	TCF3	NM_003200.5(TCF3):c.1167+15C>T	noncoding	Benign
19	1619768	G	T	G1619768T	TCF3	NM_003200.5(TCF3):c.1167+12C>A	noncoding	Benign
19	1620950	C	T	C1620950T	TCF3	NM_003200.5(TCF3):c.1093+18G>A	noncoding	Benign
19	1620951	C	G	C1620951G	TCF3	NM_003200.5(TCF3):c.1093+17G>C	noncoding	Benign
19	1620951	C	T	C1620951T	TCF3	NM_003200.5(TCF3):c.1093+17G>A	noncoding	Benign
19	1620999	A	G	A1620999G	TCF3	NM_003200.5(TCF3):c.1062T>C:p.Ser354=	coding	Benign
19	1621893	C	T	C1621893T	TCF3	NM_003200.5(TCF3):c.900G>A:p.Thr300=	coding	Benign
19	1621983	G	A	G1621983A	TCF3	NM_003200.5(TCF3):c.823-13C>T	noncoding	Benign
19	1622040	G	A	G1622040A	TCF3	NM_003200.5(TCF3):c.822+14C>T	noncoding	Benign/Likely_benign
19	1622068	G	A	G1622068A	TCF3	NM_003200.5(TCF3):c.808C>T:p.Gln270Ter	coding	Pathogenic
19	1622117	G	A	G1622117A	TCF3	NM_003200.5(TCF3):c.759C>T:p.Ser253=	coding	Benign
19	1622297	C	A	C1622297A	TCF3	NM_003200.5(TCF3):c.652+16G>T	noncoding	Benign
19	1622329	G	T	G1622329T	TCF3	NM_003200.5(TCF3):c.636C>A:p.Ala212=	coding	Benign
19	1624008	A	G	A1624008G	TCF3	NM_003200.5(TCF3):c.500-8T>C	noncoding	Benign
19	1625559	G	A	G1625559A	TCF3	NM_003200.5(TCF3):c.499+17C>T	noncoding	Benign
19	1625586	G	A	G1625586A	TCF3	NM_003200.5(TCF3):c.489C>T:p.Asp163=	coding	Benign
19	1625623	G	A	G1625623A	TCF3	NM_003200.5(TCF3):c.452C>T:p.Pro151Leu	coding	Benign
19	1627342	C	T	C1627342T	TCF3	NM_003200.5(TCF3):c.366+17G>A	noncoding	Benign
19	1627348	G	A	G1627348A	TCF3	NM_003200.5(TCF3):c.366+11C>T	noncoding	Benign
19	1627366	A	G	A1627366G	TCF3	NM_003200.5(TCF3):c.359T>C:p.Leu120Pro	coding	Benign
19	1627370	C	T	C1627370T	TCF3	NM_003200.5(TCF3):c.355G>A:p.Gly119Ser	coding	Benign
19	1632021	C	A	C1632021A	TCF3	NM_003200.5(TCF3):c.298+17G>T	noncoding	Benign
19	1646222	C	T	C1646222T	TCF3	NM_003200.5(TCF3):c.145+133G>A	noncoding	Benign
19	1646364	C	A	C1646364A	TCF3	NM_003200.5(TCF3):c.136G>T:p.Gly46Ter	coding	Pathogenic
19	1650135	A	G	A1650135G	TCF3	NM_003200.5(TCF3):c.72+42T>C	noncoding	Benign
19	1828203	C	T	C1828203T	REXO1	NM_020695.4(REXO1):c.586G>A:p.Gly196Ser	coding	Benign
19	1912935	T	C	T1912935C	ADAT3	NM_138422.4(ADAT3):c.888T>C:p.Thr296=	coding	Benign
19	1912987	C	T	C1912987T	ADAT3	NM_138422.4(ADAT3):c.940C>T:p.Leu314=	coding	Benign
19	2108930	C	A	C2108930A	AP3D1	NM_001261826.3(AP3D1):c.3472+156G>T	noncoding	Benign
19	2109020	T	C	T2109020C	AP3D1	NM_001261826.3(AP3D1):c.3472+66A>G	noncoding	Benign
19	2109072	C	T	C2109072T	AP3D1	NM_001261826.3(AP3D1):c.3472+14G>A	noncoding	Benign
19	2109158	T	C	T2109158C	AP3D1	NM_001261826.3(AP3D1):c.3400A>G:p.Ile1134Val	coding	Benign
19	2109481	G	A	G2109481A	AP3D1	NM_001261826.3(AP3D1):c.3351-274C>T	noncoding	Benign
19	2109668	C	T	C2109668T	AP3D1	NM_001261826.3(AP3D1):c.3350+205G>A	noncoding	Benign
19	2109813	G	C	G2109813C	AP3D1	NM_001261826.3(AP3D1):c.3350+60C>G	noncoding	Benign
19	2109835	G	A	G2109835A	AP3D1	NM_001261826.3(AP3D1):c.3350+38C>T	noncoding	Benign
19	2109938	G	A	G2109938A	AP3D1	NM_001261826.3(AP3D1):c.3285C>T:p.His1095=	coding	Benign/Likely_benign
19	2109989	A	T	A2109989T	AP3D1	NM_001261826.3(AP3D1):c.3265-31T>A	noncoding	Benign
19	2110020	T	C	T2110020C	AP3D1	NM_001261826.3(AP3D1):c.3265-62A>G	noncoding	Benign
19	2110109	T	C	T2110109C	AP3D1	NM_001261826.3(AP3D1):c.3264+27A>G	noncoding	Benign
19	2110747	G	A	G2110747A	AP3D1	NM_001261826.3(AP3D1):c.3135C>T:p.Ser1045=	coding	Benign
19	2111036	C	T	C2111036T	AP3D1	NM_001261826.3(AP3D1):c.2986-140G>A	noncoding	Benign
19	2111039	G	C	G2111039C	AP3D1	NM_001261826.3(AP3D1):c.2986-143C>G	noncoding	Benign
19	2111064	T	C	T2111064C	AP3D1	NM_001261826.3(AP3D1):c.2986-168A>G	noncoding	Benign
19	2111383	G	A	G2111383A	AP3D1	NM_001261826.3(AP3D1):c.2938-51C>T	noncoding	Benign
19	2111398	T	C	T2111398C	AP3D1	NM_001261826.3(AP3D1):c.2938-66A>G	noncoding	Benign
19	2111650	T	C	T2111650C	AP3D1	NM_001261826.3(AP3D1):c.2937+29A>G	noncoding	Benign
19	2111662	G	A	G2111662A	AP3D1	NM_001261826.3(AP3D1):c.2937+17C>T	noncoding	Benign
19	2112840	T	C	T2112840C	AP3D1	NM_001261826.3(AP3D1):c.2787+20A>G	noncoding	Benign
19	2112842	G	A	G2112842A	AP3D1	NM_001261826.3(AP3D1):c.2787+18C>T	noncoding	Benign
19	2112845	G	T	G2112845T	AP3D1	NM_001261826.3(AP3D1):c.2787+15C>A	noncoding	Benign
19	2113274	G	A	G2113274A	AP3D1	NM_001261826.3(AP3D1):c.2679+62C>T	noncoding	Benign
19	2113302	C	T	C2113302T	AP3D1	NM_001261826.3(AP3D1):c.2679+34G>A	noncoding	Benign
19	2113468	G	A	G2113468A	AP3D1	NM_001261826.3(AP3D1):c.2602-55C>T	noncoding	Benign
19	2113519	G	A	G2113519A	AP3D1	NM_001261826.3(AP3D1):c.2602-106C>T	noncoding	Benign
19	2113701	C	G	C2113701G	AP3D1	NM_001261826.3(AP3D1):c.2602-288G>C	noncoding	Benign
19	2113899	C	A	C2113899A	AP3D1	NM_001261826.3(AP3D1):c.2601+226G>T	noncoding	Benign
19	2113910	G	A	G2113910A	AP3D1	NM_001261826.3(AP3D1):c.2601+215C>T	noncoding	Benign
19	2114176	T	C	T2114176C	AP3D1	NM_001261826.3(AP3D1):c.2550A>G:p.Lys850=	coding	Benign
19	2114320	G	A	G2114320A	AP3D1	NM_001261826.3(AP3D1):c.2424-18C>T	noncoding	Benign
19	2114466	C	A	C2114466A	AP3D1	NM_001261826.3(AP3D1):c.2424-164G>T	noncoding	Benign
19	2114695	G	A	G2114695A	AP3D1	NM_001261826.3(AP3D1):c.2423+53C>T	noncoding	Benign
19	2115037	T	C	T2115037C	AP3D1	NM_001261826.3(AP3D1):c.2349+182A>G	noncoding	Benign
19	2115128	G	A	G2115128A	AP3D1	NM_001261826.3(AP3D1):c.2349+91C>T	noncoding	Benign
19	2115440	C	G	C2115440G	AP3D1	NM_001261826.3(AP3D1):c.2150-22G>C	noncoding	Benign
19	2115480	C	T	C2115480T	AP3D1	NM_001261826.3(AP3D1):c.2149+58G>A	noncoding	Benign
19	2115494	A	G	A2115494G	AP3D1	NM_001261826.3(AP3D1):c.2149+44T>C	noncoding	Benign
19	2115669	G	A	G2115669A	AP3D1	NM_001261826.3(AP3D1):c.2074-56C>T	noncoding	Benign
19	2115791	T	C	T2115791C	AP3D1	NM_001261826.3(AP3D1):c.2074-178A>G	noncoding	Benign
19	2115919	C	T	C2115919T	AP3D1	NM_001261826.3(AP3D1):c.2073+288G>A	noncoding	Benign
19	2116089	G	T	G2116089T	AP3D1	NM_001261826.3(AP3D1):c.2073+118C>A	noncoding	Benign
19	2116282	T	C	T2116282C	AP3D1	NM_001261826.3(AP3D1):c.2002-4A>G	noncoding	Benign
19	2116401	C	T	C2116401T	AP3D1	NM_001261826.3(AP3D1):c.2002-123G>A	noncoding	Benign
19	2116467	G	C	G2116467C	AP3D1	NM_001261826.3(AP3D1):c.2001+138C>G	noncoding	Benign
19	2116650	A	G	A2116650G	AP3D1	NM_001261826.3(AP3D1):c.1956T>C:p.Arg652=	coding	Benign
19	2116761	A	G	A2116761G	AP3D1	NM_001261826.3(AP3D1):c.1860-15T>C	noncoding	Benign
19	2116765	C	T	C2116765T	AP3D1	NM_001261826.3(AP3D1):c.1860-19G>A	noncoding	Benign
19	2116834	T	C	T2116834C	AP3D1	NM_001261826.3(AP3D1):c.1860-88A>G	noncoding	Benign
19	2117076	G	A	G2117076A	AP3D1	NM_001261826.3(AP3D1):c.1859+146C>T	noncoding	Benign
19	2118341	C	G	C2118341G	AP3D1	NM_001261826.3(AP3D1):c.1713+260G>C	noncoding	Benign
19	2118531	G	A	G2118531A	AP3D1	NM_001261826.3(AP3D1):c.1713+70C>T	noncoding	Benign
19	2118693	C	T	C2118693T	AP3D1	NM_001261826.3(AP3D1):c.1621G>A:p.Gly541Arg	coding	Benign
19	2119014	G	A	G2119014A	AP3D1	NM_001261826.3(AP3D1):c.1482-182C>T	noncoding	Benign
19	2121297	G	A	G2121297A	AP3D1	NM_001261826.3(AP3D1):c.1116C>T:p.Asn372=	coding	Benign
19	2121317	C	T	C2121317T	AP3D1	NM_001261826.3(AP3D1):c.1102-6G>A	noncoding	Benign
19	2121549	C	T	C2121549T	AP3D1	NM_001261826.3(AP3D1):c.1101+185G>A	noncoding	Benign
19	2121550	C	T	C2121550T	AP3D1	NM_001261826.3(AP3D1):c.1101+184G>A	noncoding	Benign
19	2122095	C	G	C2122095G	AP3D1	NM_001261826.3(AP3D1):c.956-216G>C	noncoding	Benign
19	2122100	C	T	C2122100T	AP3D1	NM_001261826.3(AP3D1):c.956-221G>A	noncoding	Benign
19	2123329	A	G	A2123329G	AP3D1	NM_001261826.3(AP3D1):c.955+29T>C	noncoding	Benign
19	2123517	A	G	A2123517G	AP3D1	NM_001261826.3(AP3D1):c.907-111T>C	noncoding	Benign
19	2123929	C	T	C2123929T	AP3D1	NM_001261826.3(AP3D1):c.857-50G>A	noncoding	Benign
19	2124035	T	C	T2124035C	AP3D1	NM_001261826.3(AP3D1):c.857-156A>G	noncoding	Benign
19	2127273	A	G	A2127273G	AP3D1	NM_001261826.3(AP3D1):c.807-72T>C	noncoding	Benign
19	2129068	A	G	A2129068G	AP3D1	NM_001261826.3(AP3D1):c.806+22T>C	noncoding	Benign
19	2129474	T	C	T2129474C	AP3D1	NM_001261826.3(AP3D1):c.593-17A>G	noncoding	Benign
19	2129475	C	G	C2129475G	AP3D1	NM_001261826.3(AP3D1):c.593-18G>C	noncoding	Benign
19	2129707	A	G	A2129707G	AP3D1	NM_001261826.3(AP3D1):c.593-250T>C	noncoding	Benign
19	2130393	C	T	C2130393T	AP3D1	NM_001261826.3(AP3D1):c.592+15G>A	noncoding	Benign
19	2136993	C	T	C2136993T	AP3D1	NM_001261826.3(AP3D1):c.354+18G>A	noncoding	Benign
19	2137001	G	C	G2137001C	AP3D1	NM_001261826.3(AP3D1):c.354+10C>G	noncoding	Benign
19	2137107	T	G	T2137107G	AP3D1	NM_001261826.3(AP3D1):c.274-16A>C	noncoding	Benign
19	2137711	C	T	C2137711T	AP3D1	NM_001261826.3(AP3D1):c.273+16G>A	noncoding	Benign
19	2137820	G	A	G2137820A	AP3D1	NM_001261826.3(AP3D1):c.193-13C>T	noncoding	Benign
19	2137871	C	T	C2137871T	AP3D1	NM_001261826.3(AP3D1):c.193-64G>A	noncoding	Benign
19	2137886	C	T	C2137886T	AP3D1	NM_001261826.3(AP3D1):c.193-79G>A	noncoding	Benign
19	2138042	T	C	T2138042C	AP3D1	NM_001261826.3(AP3D1):c.193-235A>G	noncoding	Benign
19	2138502	G	A	G2138502A	AP3D1	NM_001261826.3(AP3D1):c.192+117C>T	noncoding	Benign
19	2138508	A	G	A2138508G	AP3D1	NM_001261826.3(AP3D1):c.192+111T>C	noncoding	Benign
19	2138655	T	G	T2138655G	AP3D1	NM_001261826.3(AP3D1):c.156A>C:p.Ile52=	coding	Benign
19	2151228	G	A	G2151228A	AP3D1	NM_001261826.3(AP3D1):c.96+11C>T	noncoding	Benign
19	2151516	G	A	G2151516A	AP3D1	NM_001261826.3(AP3D1):c.-182C>T	noncoding	Benign
19	2151762	T	C	T2151762C	AP3D1	Single_allele	noncoding	Benign
19	2248883	A	G	A2248883G	AMH	Single_allele	noncoding	Benign
19	2249113	G	A	G2249113A	AMH	Single_allele	noncoding	Benign
19	2249584	G	A	G2249584A	AMH	NM_000479.5(AMH):c.252G>A:p.Leu84=	coding	Benign
19	2249635	G	A	G2249635A	AMH	NM_000479.5(AMH):c.303G>A:p.Gly101=	coding	Benign
19	2249648	G	A	G2249648A	AMH	NM_000479.5(AMH):c.316G>A:p.Gly106Ser	coding	Benign
19	2250237	G	A	G2250237A	AMH	NM_000479.5(AMH):c.413-100G>A	noncoding	Benign
19	2250352	C	T	C2250352T	AMH	NM_000479.5(AMH):c.428C>T:p.Thr143Ile	coding	Benign
19	2250470	G	A	G2250470A	AMH	NM_000479.5(AMH):c.546G>A:p.Pro182=	coding	Benign
19	2250529	G	A	G2250529A	AMH	NM_000479.5(AMH):c.555+50G>A	noncoding	Benign
19	2250659	G	A	G2250659A	AMH	NM_000479.5(AMH):c.563G>A:p.Cys188Tyr	coding	Pathogenic
19	2250745	C	T	C2250745T	AMH	NM_000479.5(AMH):c.649C>T:p.Gln217Ter	coding	Pathogenic
19	2250780	G	A	G2250780A	AMH	NM_000479.5(AMH):c.664+20G>A	noncoding	Benign
19	2250992	C	T	C2250992T	AMH	NM_000479.5(AMH):c.808C>T:p.Pro270Ser	coding	Benign
19	2251087	T	G	T2251087G	AMH	NM_000479.5(AMH):c.825-12T>G	noncoding	Benign
19	2251108	G	A	G2251108A	AMH	NM_000479.5(AMH):c.834G>A:p.Ala278=	coding	Benign
19	2251179	G	A	G2251179A	AMH	NM_000479.5(AMH):c.905G>A:p.Arg302Gln	coding	Pathogenic
19	2251818	T	C	T2251818C	AMH	NM_000479.5(AMH):c.1544T>C:p.Val515Ala	coding	Benign
19	2321786	C	G	C2321786G	LSM7	NM_016199.3(LSM7):c.206G>C:p.Arg69Pro	coding	Pathogenic
19	2324173	C	T	C2324173T	LSM7	NM_016199.3(LSM7):c.121G>A:p.Asp41Asn	coding	Pathogenic
19	2430639	C	G	C2430639G	LMNB2	NM_032737.4(LMNB2):c.*272G>C	noncoding	Benign
19	2430969	A	G	A2430969G	LMNB2	NM_032737.4(LMNB2):c.1822-17T>C	noncoding	Benign
19	2431172	G	A	G2431172A	LMNB2	NM_032737.4(LMNB2):c.1822-220C>T	noncoding	Benign
19	2431257	G	A	G2431257A	LMNB2	NM_032737.4(LMNB2):c.1821+291C>T	noncoding	Benign
19	2431274	T	G	T2431274G	LMNB2	NM_032737.4(LMNB2):c.1821+274A>C	noncoding	Benign
19	2431620	C	T	C2431620T	LMNB2	NM_032737.4(LMNB2):c.1749G>A:p.Met583Ile	coding	Benign
19	2431665	G	A	G2431665A	LMNB2	NM_032737.4(LMNB2):c.1711-7C>T	noncoding	Benign
19	2431811	C	T	C2431811T	LMNB2	NM_032737.4(LMNB2):c.1682G>A:p.Arg561His	coding	Benign
19	2431864	G	C	G2431864C	LMNB2	NM_032737.4(LMNB2):c.1629C>G:p.Pro543=	coding	Benign
19	2431881	C	G	C2431881G	LMNB2	NM_032737.4(LMNB2):c.1612G>C:p.Val538Leu	coding	Benign
19	2432075	G	A	G2432075A	LMNB2	NM_032737.4(LMNB2):c.1591-173C>T	noncoding	Benign
19	2432179	C	T	C2432179T	LMNB2	NM_032737.4(LMNB2):c.1590+237G>A	noncoding	Benign
19	2432345	T	C	T2432345C	LMNB2	NM_032737.4(LMNB2):c.1590+71A>G	noncoding	Benign
19	2432402	G	A	G2432402A	LMNB2	NM_032737.4(LMNB2):c.1590+14C>T	noncoding	Benign
19	2432534	C	T	C2432534T	LMNB2	NM_032737.4(LMNB2):c.1483-11G>A	noncoding	Benign
19	2432535	G	A	G2432535A	LMNB2	NM_032737.4(LMNB2):c.1483-12C>T	noncoding	Benign
19	2432543	C	T	C2432543T	LMNB2	NM_032737.4(LMNB2):c.1483-20G>A	noncoding	Benign
19	2432557	A	G	A2432557G	LMNB2	NM_032737.4(LMNB2):c.1483-34T>C	noncoding	Benign
19	2433892	A	G	A2433892G	LMNB2	NM_032737.4(LMNB2):c.1416T>C:p.Gly472=	coding	Benign
19	2433930	C	T	C2433930T	LMNB2	NM_032737.4(LMNB2):c.1378G>A:p.Gly460Ser	coding	Benign
19	2434076	C	T	C2434076T	LMNB2	NM_032737.4(LMNB2):c.1232G>A:p.Arg411His	coding	Benign
19	2434247	T	C	T2434247C	LMNB2	NM_032737.4(LMNB2):c.1202+48A>G	noncoding	Benign
19	2434305	C	T	C2434305T	LMNB2	NM_032737.4(LMNB2):c.1192G>A:p.Glu398Lys	coding	Pathogenic
19	2434553	A	G	A2434553G	LMNB2	NM_032737.4(LMNB2):c.982-38T>C	noncoding	Benign
19	2434927	G	C	G2434927C	LMNB2	NM_032737.4(LMNB2):c.856-14C>G	coding	Benign
19	2434943	C	T	C2434943T	LMNB2	NM_032737.4(LMNB2):c.856-30G>A	coding	Benign
19	2435106	C	G	C2435106G	LMNB2	NM_032737.4(LMNB2):c.750G>C:p.Gln250His	coding	Benign
19	2435176	G	A	G2435176A	LMNB2	NM_032737.4(LMNB2):c.685-5C>T	noncoding	Benign
19	2435336	G	A	G2435336A	LMNB2	NM_032737.4(LMNB2):c.685-165C>T	noncoding	Benign
19	2435458	T	C	T2435458C	LMNB2	NM_032737.4(LMNB2):c.685-287A>G	noncoding	Benign
19	2438000	C	T	C2438000T	LMNB2	NM_032737.4(LMNB2):c.684+163G>A	noncoding	Benign
19	2438121	C	T	C2438121T	LMNB2	NM_032737.4(LMNB2):c.684+42G>A	noncoding	Benign
19	2438419	C	T	C2438419T	LMNB2	NM_032737.4(LMNB2):c.514G>A:p.Gly172Ser	coding	Benign
19	2438530	C	T	C2438530T	LMNB2	NM_032737.4(LMNB2):c.403G>A:p.Ala135Thr	coding	Benign
19	2438667	C	T	C2438667T	LMNB2	NM_032737.4(LMNB2):c.402-136G>A	noncoding	Benign
19	2438680	C	A	C2438680A	LMNB2	NM_032737.4(LMNB2):c.402-149G>T	noncoding	Benign
19	2438793	C	G	C2438793G	LMNB2	NM_032737.4(LMNB2):c.402-262G>C	noncoding	Benign
19	2438803	T	C	T2438803C	LMNB2	NM_032737.4(LMNB2):c.402-272A>G	noncoding	Benign
19	2444365	A	G	A2444365G	LMNB2	NM_032737.4(LMNB2):c.401+39T>C	noncoding	Benign
19	2444567	C	T	C2444567T	LMNB2	NM_032737.4(LMNB2):c.265-27G>A	noncoding	Benign
19	2444610	G	A	G2444610A	LMNB2	NM_032737.4(LMNB2):c.265-70C>T	noncoding	Benign
19	2444764	G	A	G2444764A	LMNB2	NM_032737.4(LMNB2):c.265-224C>T	noncoding	Benign
19	2444835	C	T	C2444835T	LMNB2	NM_032737.4(LMNB2):c.265-295G>A	noncoding	Benign
19	2456410	C	A	C2456410A	LMNB2	NM_032737.4(LMNB2):c.264+260G>T	noncoding	Benign
19	2456774	T	G	T2456774G	LMNB2	NM_032737.4(LMNB2):c.160A>C:p.Asn54His	coding	Pathogenic
19	2989595	G	C	G2989595C	TLE6	NM_001143986.2(TLE6):c.1054G>C:p.Gly352Arg	coding	Pathogenic
19	3094217	C	G	C3094217G	GNA11	Single_allele	noncoding	Benign
19	3094529	G	A	G3094529A	GNA11	NM_002067.5(GNA11):c.-123G>A	noncoding	Benign
19	3094925	C	T	C3094925T	GNA11	NM_002067.5(GNA11):c.136+138C>T	noncoding	Benign
19	3110100	G	A	G3110100A	GNA11	NM_002067.5(GNA11):c.137-49G>A	noncoding	Benign
19	3110173	C	T	C3110173T	GNA11	NM_002067.5(GNA11):c.161C>T:p.Thr54Met	coding	Pathogenic
19	3110252	C	T	C3110252T	GNA11	NM_002067.5(GNA11):c.240C>T:p.Tyr80=	coding	Benign/Likely_benign
19	3110363	C	T	C3110363T	GNA11	NM_002067.5(GNA11):c.321+30C>T	noncoding	Benign
19	3110489	A	G	A3110489G	GNA11	NM_002067.5(GNA11):c.321+156A>G	noncoding	Benign
19	3110517	A	G	A3110517G	GNA11	NM_002067.5(GNA11):c.321+184A>G	noncoding	Benign
19	3110587	A	G	A3110587G	GNA11	NM_002067.5(GNA11):c.321+254A>G	noncoding	Benign
19	3110609	G	C	G3110609C	GNA11	NM_002067.5(GNA11):c.321+276G>C	noncoding	Benign
19	3113158	G	A	G3113158A	GNA11	NM_002067.5(GNA11):c.322-172G>A	noncoding	Benign
19	3113164	G	A	G3113164A	GNA11	NM_002067.5(GNA11):c.322-166G>A	noncoding	Benign
19	3113178	C	T	C3113178T	GNA11	NM_002067.5(GNA11):c.322-152C>T	noncoding	Benign
19	3113307	G	C	G3113307C	GNA11	NM_002067.5(GNA11):c.322-23G>C	noncoding	Benign
19	3113320	G	A	G3113320A	GNA11	NM_002067.5(GNA11):c.322-10G>A	noncoding	Benign
19	3114703	C	T	C3114703T	GNA11	NM_002067.5(GNA11):c.477-241C>T	noncoding	Benign
19	3114866	C	T	C3114866T	GNA11	NM_002067.5(GNA11):c.477-78C>T	noncoding	Benign
19	3114956	C	T	C3114956T	GNA11	NM_002067.5(GNA11):c.489C>T:p.Asp163=	coding	Benign
19	3115014	C	T	C3115014T	GNA11	NM_002067.5(GNA11):c.547C>T:p.Arg183Cys	coding	Pathogenic
19	3119044	G	A	G3119044A	GNA11	NM_002067.5(GNA11):c.726G>A:p.Ser242=	coding	Benign
19	3119328	G	C	G3119328C	GNA11	NM_002067.5(GNA11):c.858G>C:p.Ser286=	coding	Benign
19	3119373	C	T	C3119373T	GNA11	NM_002067.5(GNA11):c.889+14C>T	noncoding	Benign
19	3119407	T	G	T3119407G	GNA11	NM_002067.5(GNA11):c.889+48T>G	noncoding	Benign
19	3119408	G	T	G3119408T	GNA11	NM_002067.5(GNA11):c.889+49G>T	noncoding	Benign
19	3120741	T	G	T3120741G	GNA11	NM_002067.5(GNA11):c.890-248T>G	noncoding	Benign
19	3121014	G	A	G3121014A	GNA11	NM_002067.5(GNA11):c.915G>A:p.Ala305=	coding	Benign
19	3121117	G	A	G3121117A	GNA11	NM_002067.5(GNA11):c.1018G>A:p.Val340Met	coding	Pathogenic/Likely_pathogenic
19	3121291	G	A	G3121291A	GNA11	NM_002067.5(GNA11):c.*112G>A	noncoding	Benign
19	3121368	C	T	C3121368T	GNA11	NM_002067.5(GNA11):c.*189C>T	noncoding	Benign
19	3491561	A	T	A3491561T	DOHH	NM_001145165.2(DOHH):c.840T>A:p.Tyr280Ter	coding	Pathogenic
19	3491655	A	G	A3491655G	DOHH	NM_001145165.2(DOHH):c.746T>C:p.Ile249Thr	coding	Pathogenic
19	3491733	G	A	G3491733A	DOHH	NM_001145165.2(DOHH):c.668C>T:p.Pro223Leu	coding	Pathogenic
19	3492299	G	T	G3492299T	DOHH	NM_001145165.2(DOHH):c.552C>A:p.Asn184Lys	coding	Pathogenic
19	3492396	G	A	G3492396A	DOHH	NM_001145165.2(DOHH):c.455C>T:p.Pro152Leu	coding	Pathogenic
19	3546187	G	A	G3546187A	MFSD12	NM_174983.5(MFSD12):c.1195-19C>T	noncoding	Benign
19	3546342	G	A	G3546342A	MFSD12	NM_174983.5(MFSD12):c.1107C>T:p.Tyr369=	coding	Benign
19	3585336	C	T	C3585336T	GIPC3	Single_allele	noncoding	Benign
19	3585521	G	A	G3585521A	GIPC3	NM_133261.3(GIPC3):c.-77G>A	noncoding	Benign
19	3585804	C	T	C3585804T	GIPC3	NM_133261.3(GIPC3):c.207C>T:p.Phe69=	coding	Benign/Likely_benign
19	3585948	C	T	C3585948T	GIPC3	NM_133261.3(GIPC3):c.225+126C>T	noncoding	Benign
19	3586041	A	G	A3586041G	GIPC3	NM_133261.3(GIPC3):c.225+219A>G	noncoding	Benign
19	3586473	A	G	A3586473G	GIPC3	NM_133261.3(GIPC3):c.226-22A>G	noncoding	Benign
19	3587249	G	A	G3587249A	GIPC3	NM_133261.3(GIPC3):c.592+255G>A	noncoding	Benign
19	3589341	G	A	G3589341A	GIPC3	NM_133261.3(GIPC3):c.593-102G>A	noncoding	Benign
19	3589671	T	C	T3589671C	GIPC3	NM_133261.3(GIPC3):c.705+116T>C	noncoding	Benign
19	3589770	G	A	G3589770A	GIPC3	NM_133261.3(GIPC3):c.706-61G>A	noncoding	Benign
19	3589943	G	T	G3589943T	GIPC3	NM_133261.3(GIPC3):c.787+31G>T	noncoding	Benign
19	3590336	A	G	A3590336G	GIPC3	NM_133261.3(GIPC3):c.*146A>G	noncoding	Benign
19	3595406	C	G	C3595406G	TBXA2R	NM_001060.6(TBXA2R):c.*282G>C	coding	Benign
19	3595524	G	A	G3595524A	TBXA2R	NM_001060.6(TBXA2R):c.*164C>T	coding	Benign
19	3596007	T	C	T3596007C	TBXA2R	NM_001060.6(TBXA2R):c.787-74A>G	noncoding	Benign
19	3600826	G	T	G3600826T	TBXA2R	NM_001060.6(TBXA2R):c.-83-109C>A	noncoding	Benign
19	3632973	C	G	C3632973G	PIP5K1C	NM_012398.3(PIP5K1C):c.*194G>C	noncoding	Benign
19	3633117	C	A	C3633117A	PIP5K1C	NM_012398.3(PIP5K1C):c.*50G>T	noncoding	Benign
19	3633194	A	G	A3633194G	PIP5K1C	NM_012398.3(PIP5K1C):c.2005-25T>C	noncoding	Benign
19	3633275	G	C	G3633275C	PIP5K1C	NM_012398.3(PIP5K1C):c.2005-106C>G	noncoding	Benign
19	3633625	G	A	G3633625A	PIP5K1C	NM_012398.3(PIP5K1C):c.1921-105C>T	noncoding	Benign
19	3638697	C	A	C3638697A	PIP5K1C	NM_012398.3(PIP5K1C):c.1920+187G>T	noncoding	Benign
19	3638858	C	T	C3638858T	PIP5K1C	NM_012398.3(PIP5K1C):c.1920+26G>A	noncoding	Benign
19	3638859	G	A	G3638859A	PIP5K1C	NM_012398.3(PIP5K1C):c.1920+25C>T	noncoding	Benign
19	3639152	G	A	G3639152A	PIP5K1C	NM_012398.3(PIP5K1C):c.1788-136C>T	noncoding	Benign
19	3641674	C	T	C3641674T	PIP5K1C	NM_012398.3(PIP5K1C):c.1787+31G>A	noncoding	Benign
19	3641975	G	C	G3641975C	PIP5K1C	NM_012398.3(PIP5K1C):c.1683-166C>G	noncoding	Benign
19	3642059	T	C	T3642059C	PIP5K1C	NM_012398.3(PIP5K1C):c.1683-250A>G	noncoding	Benign
19	3642970	A	G	A3642970G	PIP5K1C	NM_012398.3(PIP5K1C):c.1650-31T>C	noncoding	Benign
19	3643680	C	A	C3643680A	PIP5K1C	NM_012398.3(PIP5K1C):c.1511-299G>T	noncoding	Benign
19	3643976	G	A	G3643976A	PIP5K1C	NM_012398.3(PIP5K1C):c.1510+111C>T	noncoding	Benign
19	3644016	A	G	A3644016G	PIP5K1C	NM_012398.3(PIP5K1C):c.1510+71T>C	noncoding	Benign
19	3644064	G	A	G3644064A	PIP5K1C	NM_012398.3(PIP5K1C):c.1510+23C>T	noncoding	Benign
19	3644339	G	A	G3644339A	PIP5K1C	NM_012398.3(PIP5K1C):c.1346-88C>T	noncoding	Benign
19	3645852	G	A	G3645852A	PIP5K1C	NM_012398.3(PIP5K1C):c.1345+122C>T	noncoding	Benign
19	3645949	G	A	G3645949A	PIP5K1C	NM_012398.3(PIP5K1C):c.1345+25C>T	noncoding	Benign
19	3647442	A	G	A3647442G	PIP5K1C	NM_012398.3(PIP5K1C):c.1212-56T>C	noncoding	Benign
19	3647623	T	C	T3647623C	PIP5K1C	NM_012398.3(PIP5K1C):c.1212-237A>G	noncoding	Benign
19	3648601	A	G	A3648601G	PIP5K1C	NM_012398.3(PIP5K1C):c.1211+24T>C	noncoding	Benign
19	3651553	T	G	T3651553G	PIP5K1C	NM_012398.3(PIP5K1C):c.1127+273A>C	noncoding	Benign
19	3651825	C	T	C3651825T	PIP5K1C	NM_012398.3(PIP5K1C):c.1127+1G>A	noncoding	Pathogenic
19	3653105	A	G	A3653105G	PIP5K1C	NM_012398.3(PIP5K1C):c.921+185T>C	noncoding	Benign
19	3653527	C	T	C3653527T	PIP5K1C	NM_012398.3(PIP5K1C):c.684G>A:p.Ser228=	coding	Benign
19	3653721	G	A	G3653721A	PIP5K1C	NM_012398.3(PIP5K1C):c.622-132C>T	noncoding	Benign
19	3656217	G	A	G3656217A	PIP5K1C	NM_012398.3(PIP5K1C):c.621+188C>T	noncoding	Benign
19	3656654	G	A	G3656654A	PIP5K1C	NM_012398.3(PIP5K1C):c.469-97C>T	noncoding	Benign
19	3660946	G	A	G3660946A	PIP5K1C	NM_012398.3(PIP5K1C):c.468+20C>T	noncoding	Benign
19	3661721	G	C	G3661721C	PIP5K1C	NM_012398.3(PIP5K1C):c.350+150C>G	noncoding	Benign
19	3665187	G	T	G3665187T	PIP5K1C	NM_012398.3(PIP5K1C):c.127-273C>A	noncoding	Benign
19	3667296	G	A	G3667296A	PIP5K1C	NM_012398.3(PIP5K1C):c.126+26C>T	noncoding	Benign
19	3667535	G	C	G3667535C	PIP5K1C	NM_012398.3(PIP5K1C):c.95-182C>G	noncoding	Benign
19	3700376	T	C	T3700376C	PIP5K1C	NM_012398.3(PIP5K1C):c.15A>G:p.Val5=	coding	Benign/Likely_benign
19	3700539	A	G	A3700539G	PIP5K1C	Single_allele	noncoding	Benign
19	3770831	C	T	C3770831T	RAX2	NM_001319074.4(RAX2):c.345G>A:p.Ser115=	coding	Benign
19	3771598	A	G	A3771598G	RAX2	NM_001319074.4(RAX2):c.145T>C:p.Ser49Pro	coding	Pathogenic
19	3908203	T	C	T3908203C	ATCAY	NM_033064.5(ATCAY):c.545-65T>C	noncoding	Benign
19	3913794	C	G	C3913794G	ATCAY	NM_033064.5(ATCAY):c.903C>G:p.Ser301Arg	coding	Pathogenic
19	3913859	G	T	G3913859T	ATCAY	NM_033064.5(ATCAY):c.965+3G>T	noncoding	Pathogenic
19	3976255	G	A	G3976255A	EEF2	NM_001961.4(EEF2):c.*299C>T	noncoding	Benign
19	3976323	T	G	T3976323G	EEF2	NM_001961.4(EEF2):c.*231A>C	noncoding	Benign
19	3976443	G	A	G3976443A	EEF2	NM_001961.4(EEF2):c.*111C>T	noncoding	Benign
19	3976551	C	T	C3976551T	EEF2	NM_001961.4(EEF2):c.*3G>A	noncoding	Benign
19	3976701	G	A	G3976701A	EEF2	NM_001961.4(EEF2):c.2430C>T:p.Pro810=	coding	Benign
19	3976865	C	T	C3976865T	EEF2	NM_001961.4(EEF2):c.2384-118G>A	noncoding	Benign
19	3977291	G	A	G3977291A	EEF2	NM_001961.4(EEF2):c.2307C>T:p.His769=	coding	Benign
19	3977542	G	A	G3977542A	EEF2	NM_001961.4(EEF2):c.2136C>T:p.Asp712=	coding	Benign
19	3977548	G	A	G3977548A	EEF2	NM_001961.4(EEF2):c.2130C>T:p.His710=	coding	Benign
19	3977897	G	A	G3977897A	EEF2	NM_001961.4(EEF2):c.1989C>T:p.Thr663=	coding	Benign
19	3979314	T	C	T3979314C	EEF2	NM_001961.4(EEF2):c.1713+15A>G	noncoding	Benign
19	3979321	C	A	C3979321A	EEF2	NM_001961.4(EEF2):c.1713+8G>T	noncoding	Benign
19	3979943	G	A	G3979943A	EEF2	NM_001961.4(EEF2):c.1470C>T:p.His490=	coding	Benign/Likely_benign
19	3980369	G	T	G3980369T	EEF2	NM_001961.4(EEF2):c.1346+145C>A	noncoding	Benign
19	3980826	A	G	A3980826G	EEF2	NM_001961.4(EEF2):c.1150+15T>C	noncoding	Benign
19	3980837	G	A	G3980837A	EEF2	NM_001961.4(EEF2):c.1150+4C>T	noncoding	Benign
19	3981528	A	G	A3981528G	EEF2	NM_001961.4(EEF2):c.898-76T>C	noncoding	Benign
19	3982404	G	A	G3982404A	EEF2	NM_001961.4(EEF2):c.633C>T:p.Thr211=	coding	Benign
19	3982787	C	T	C3982787T	EEF2	NM_001961.4(EEF2):c.612+20G>A	noncoding	Benign
19	3982828	G	A	G3982828A	EEF2	NM_001961.4(EEF2):c.591C>T:p.Ser197=	coding	Benign
19	3982852	G	A	G3982852A	EEF2	NM_001961.4(EEF2):c.567C>T:p.Ile189=	coding	Benign
19	3982897	G	A	G3982897A	EEF2	NM_001961.4(EEF2):c.522C>T:p.Leu174=	coding	Benign
19	3982969	G	A	G3982969A	EEF2	NM_001961.4(EEF2):c.450C>T:p.Arg150=	coding	Benign
19	3983084	G	A	G3983084A	EEF2	NM_001961.4(EEF2):c.400+26C>T	noncoding	Benign
19	3983186	A	G	A3983186G	EEF2	NM_001961.4(EEF2):c.324T>C:p.His108=	coding	Benign
19	3983192	G	A	G3983192A	EEF2	NM_001961.4(EEF2):c.318C>T:p.Pro106=	coding	Benign
19	3983304	G	A	G3983304A	EEF2	NM_001961.4(EEF2):c.219-13C>T	noncoding	Benign
19	3983564	T	C	T3983564C	EEF2	NM_001961.4(EEF2):c.219-273A>G	noncoding	Benign
19	3984414	G	A	G3984414A	EEF2	NM_001961.4(EEF2):c.4-64C>T	noncoding	Benign
19	3984455	G	A	G3984455A	EEF2	NM_001961.4(EEF2):c.4-105C>T	noncoding	Benign
19	3984542	T	C	T3984542C	EEF2	NM_001961.4(EEF2):c.4-192A>G	noncoding	Benign
19	3985150	A	G	A3985150G	EEF2	NM_001961.4(EEF2):c.3+228T>C	noncoding	Benign
19	3985252	C	G	C3985252G	EEF2	NM_001961.4(EEF2):c.3+126G>C	noncoding	Benign
19	3985578	C	T	C3985578T	EEF2	Single_allele	noncoding	Benign
19	4047971	C	T	C4047971T	ZBTB7A	NM_015898.4(ZBTB7A):c.1536G>A:p.Pro512=	coding	Benign
19	4048153	C	T	C4048153T	ZBTB7A	NM_015898.4(ZBTB7A):c.1354G>A:p.Asp452Asn	coding	Pathogenic
19	4054081	G	C	G4054081C	ZBTB7A	NM_015898.4(ZBTB7A):c.1152C>G:p.Cys384Trp	coding	Pathogenic
19	4054125	G	A	G4054125A	ZBTB7A	NM_015898.4(ZBTB7A):c.1108C>T:p.Gln370Ter	coding	Pathogenic
19	4090424	G	T	G4090424T	MAP2K2	NM_030662.4(MAP2K2):c.*174C>A	noncoding	Benign
19	4090578	C	T	C4090578T	MAP2K2	NM_030662.4(MAP2K2):c.*20G>A	noncoding	Benign/Likely_benign
19	4094112	G	T	G4094112T	MAP2K2	NM_030662.4(MAP2K2):c.1092+341C>A	noncoding	Benign
19	4094889	G	A	G4094889A	MAP2K2	NM_030662.4(MAP2K2):c.1047-391C>T	noncoding	Benign
19	4097246	G	A	G4097246A	MAP2K2	NM_030662.4(MAP2K2):c.984+33C>T	noncoding	Benign
19	4097367	T	C	T4097367C	MAP2K2	NM_030662.4(MAP2K2):c.920-24A>G	noncoding	Benign
19	4099164	G	A	G4099164A	MAP2K2	NM_030662.4(MAP2K2):c.919+37C>T	noncoding	Benign
19	4099168	G	A	G4099168A	MAP2K2	NM_030662.4(MAP2K2):c.919+33C>T	noncoding	Benign
19	4099170	C	G	C4099170G	MAP2K2	NM_030662.4(MAP2K2):c.919+31G>C	noncoding	Benign
19	4099190	T	A	T4099190A	MAP2K2	NM_030662.4(MAP2K2):c.919+11A>T	noncoding	Benign
19	4099449	G	C	G4099449C	MAP2K2	NM_030662.4(MAP2K2):c.706-35C>G	noncoding	Benign
19	4099452	G	A	G4099452A	MAP2K2	NM_030662.4(MAP2K2):c.706-38C>T	noncoding	Benign
19	4099486	G	A	G4099486A	MAP2K2	NM_030662.4(MAP2K2):c.706-72C>T	noncoding	Benign
19	4099495	C	T	C4099495T	MAP2K2	NM_030662.4(MAP2K2):c.706-81G>A	noncoding	Benign
19	4101073	G	C	G4101073C	MAP2K2	NM_030662.4(MAP2K2):c.651C>G:p.Gly217=	coding	Benign/Likely_benign
19	4101133	G	A	G4101133A	MAP2K2	NM_030662.4(MAP2K2):c.591C>T:p.Pro197=	coding	Benign
19	4101162	G	A	G4101162A	MAP2K2	NM_030662.4(MAP2K2):c.581-19C>T	noncoding	Benign/Likely_benign
19	4101172	C	T	C4101172T	MAP2K2	NM_030662.4(MAP2K2):c.581-29G>A	noncoding	Benign
19	4101190	C	A	C4101190A	MAP2K2	NM_030662.4(MAP2K2):c.580+39G>T	noncoding	Benign
19	4101198	G	A	G4101198A	MAP2K2	NM_030662.4(MAP2K2):c.580+31C>T	noncoding	Benign
19	4101291	G	T	G4101291T	MAP2K2	NM_030662.4(MAP2K2):c.529-11C>A	noncoding	Benign
19	4101306	C	T	C4101306T	MAP2K2	NM_030662.4(MAP2K2):c.529-26G>A	noncoding	Benign
19	4101329	G	C	G4101329C	MAP2K2	NM_030662.4(MAP2K2):c.529-49C>G	noncoding	Benign
19	4102258	T	C	T4102258C	MAP2K2	NM_030662.4(MAP2K2):c.528+118A>G	noncoding	Benign
19	4102365	G	A	G4102365A	MAP2K2	NM_030662.4(MAP2K2):c.528+11C>T	noncoding	Benign/Likely_benign
19	4102459	G	A	G4102459A	MAP2K2	NM_030662.4(MAP2K2):c.451-6C>T	noncoding	Benign
19	4102468	A	C	A4102468C	MAP2K2	NM_030662.4(MAP2K2):c.451-15T>G	noncoding	Benign
19	4102497	C	T	C4102497T	MAP2K2	NM_030662.4(MAP2K2):c.451-44G>A	noncoding	Benign
19	4102498	C	T	C4102498T	MAP2K2	NM_030662.4(MAP2K2):c.451-45G>A	noncoding	Benign
19	4102522	C	G	C4102522G	MAP2K2	NM_030662.4(MAP2K2):c.451-69G>C	noncoding	Benign
19	4102532	G	A	G4102532A	MAP2K2	NM_030662.4(MAP2K2):c.451-79C>T	noncoding	Benign
19	4102588	G	A	G4102588A	MAP2K2	NM_030662.4(MAP2K2):c.451-135C>T	noncoding	Benign
19	4102625	T	C	T4102625C	MAP2K2	NM_030662.4(MAP2K2):c.451-172A>G	noncoding	Benign
19	4110480	G	A	G4110480A	MAP2K2	NM_030662.4(MAP2K2):c.450+29C>T	noncoding	Benign
19	4110673	C	T	C4110673T	MAP2K2	NM_030662.4(MAP2K2):c.304-18G>A	noncoding	Benign/Likely_benign
19	4117301	G	C	G4117301C	MAP2K2	NM_030662.4(MAP2K2):c.303+118C>G	noncoding	Benign
19	4117373	G	C	G4117373C	MAP2K2	NM_030662.4(MAP2K2):c.303+46C>G	noncoding	Benign
19	4117539	T	G	T4117539G	MAP2K2	NM_030662.4(MAP2K2):c.183A>C:p.Lys61Asn	coding	Pathogenic/Likely_pathogenic
19	4117660	T	C	T4117660C	MAP2K2	NM_030662.4(MAP2K2):c.93-31A>G	noncoding	Benign
19	4117707	T	C	T4117707C	MAP2K2	NM_030662.4(MAP2K2):c.93-78A>G	noncoding	Benign
19	4117871	G	T	G4117871T	MAP2K2	NM_030662.4(MAP2K2):c.93-242C>A	noncoding	Benign
19	4123580	C	T	C4123580T	MAP2K2	NM_030662.4(MAP2K2):c.92+204G>A	noncoding	Benign
19	4123616	T	C	T4123616C	MAP2K2	NM_030662.4(MAP2K2):c.92+168A>G	noncoding	Benign
19	4123738	C	G	C4123738G	MAP2K2	NM_030662.4(MAP2K2):c.92+46G>C	noncoding	Benign
19	4123742	C	A	C4123742A	MAP2K2	NM_030662.4(MAP2K2):c.92+42G>T	noncoding	Benign
19	4123757	G	C	G4123757C	MAP2K2	NM_030662.4(MAP2K2):c.92+27C>G	noncoding	Benign
19	4124118	G	A	G4124118A	MAP2K2	NM_030662.4(MAP2K2):c.-243C>T	noncoding	Benign
19	4153403	A	G	A4153403G	CREB3L3	Single_allele	noncoding	Benign
19	4153569	A	G	A4153569G	CREB3L3	Single_allele	noncoding	Benign
19	4153662	G	A	G4153662A	CREB3L3	NM_032607.3(CREB3L3):c.-86G>A	noncoding	Benign
19	4153859	T	C	T4153859C	CREB3L3	NM_032607.3(CREB3L3):c.27+85T>C	noncoding	Benign
19	4154849	G	A	G4154849A	CREB3L3	NM_032607.3(CREB3L3):c.28-50G>A	noncoding	Benign
19	4154890	G	A	G4154890A	CREB3L3	NM_032607.3(CREB3L3):c.28-9G>A	noncoding	Benign
19	4154913	C	T	C4154913T	CREB3L3	NM_032607.3(CREB3L3):c.42C>T:p.Ala14=	coding	Benign
19	4156844	G	A	G4156844A	CREB3L3	NM_032607.3(CREB3L3):c.157-151G>A	noncoding	Benign
19	4156872	C	T	C4156872T	CREB3L3	NM_032607.3(CREB3L3):c.157-123C>T	noncoding	Benign
19	4156884	G	A	G4156884A	CREB3L3	NM_032607.3(CREB3L3):c.157-111G>A	noncoding	Benign
19	4156942	C	G	C4156942G	CREB3L3	NM_032607.3(CREB3L3):c.157-53C>G	noncoding	Benign
19	4157108	C	G	C4157108G	CREB3L3	NM_032607.3(CREB3L3):c.270C>G:p.Ser90=	coding	Benign
19	4157151	G	A	G4157151A	CREB3L3	NM_032607.3(CREB3L3):c.313G>A:p.Gly105Arg	coding	Benign
19	4157172	G	A	G4157172A	CREB3L3	NM_032607.3(CREB3L3):c.334G>A:p.Gly112Ser	coding	Benign
19	4159512	C	T	C4159512T	CREB3L3	NM_032607.3(CREB3L3):c.458-152C>T	noncoding	Benign
19	4159566	C	G	C4159566G	CREB3L3	NM_032607.3(CREB3L3):c.458-98C>G	noncoding	Benign
19	4159725	C	T	C4159725T	CREB3L3	NM_032607.3(CREB3L3):c.519C>T:p.Ser173=	coding	Benign
19	4159740	C	T	C4159740T	CREB3L3	NM_032607.3(CREB3L3):c.534C>T:p.Leu178=	coding	Benign
19	4159750	G	A	G4159750A	CREB3L3	NM_032607.3(CREB3L3):c.544G>A:p.Asp182Asn	coding	Benign
19	4159799	C	G	C4159799G	CREB3L3	NM_032607.3(CREB3L3):c.576+17C>G	noncoding	Benign
19	4159876	A	G	A4159876G	CREB3L3	NM_032607.3(CREB3L3):c.576+94A>G	noncoding	Benign
19	4164477	C	T	C4164477T	CREB3L3	NM_032607.3(CREB3L3):c.577-26C>T	noncoding	Benign
19	4168440	C	A	C4168440A	CREB3L3	NM_032607.3(CREB3L3):c.804C>A:p.Ile268=	coding	Benign
19	4168440	C	T	C4168440T	CREB3L3	NM_032607.3(CREB3L3):c.804C>T:p.Ile268=	coding	Benign
19	4168559	G	A	G4168559A	CREB3L3	NM_032607.3(CREB3L3):c.821+102G>A	noncoding	Benign
19	4170001	G	A	G4170001A	CREB3L3	NM_032607.3(CREB3L3):c.822-139G>A	noncoding	Benign
19	4171077	C	T	C4171077T	CREB3L3	NM_032607.3(CREB3L3):c.891-14C>T	noncoding	Benign
19	4171448	C	T	C4171448T	CREB3L3	NM_032607.3(CREB3L3):c.1041C>T:p.Thr347=	coding	Benign
19	4171780	C	T	C4171780T	CREB3L3	NM_032607.3(CREB3L3):c.1197C>T:p.Pro399=	coding	Benign
19	4171900	C	T	C4171900T	CREB3L3	NM_032607.3(CREB3L3):c.1317C>T:p.Asp439=	coding	Benign
19	4171975	G	A	G4171975A	CREB3L3	NM_032607.3(CREB3L3):c.*6G>A	noncoding	Benign
19	4172162	C	A	C4172162A	CREB3L3	NM_032607.3(CREB3L3):c.*193C>A	noncoding	Benign
19	4174953	A	G	A4174953G	SIRT6	NM_016539.4(SIRT6):c.739-7T>C	noncoding	Benign
19	4362694	G	C	G4362694C	SH3GL1	NM_003025.4(SH3GL1):c.771C>G:p.Pro257=	coding	Benign
19	4363173	G	T	G4363173T	SH3GL1	NM_003025.4(SH3GL1):c.728+197C>A	noncoding	Benign
19	4363292	C	T	C4363292T	SH3GL1	NM_003025.4(SH3GL1):c.728+78G>A	noncoding	Benign
19	4365400	T	C	T4365400C	SH3GL1	NM_003025.4(SH3GL1):c.331+82A>G	noncoding	Benign
19	4366222	A	G	A4366222G	SH3GL1	NM_003025.4(SH3GL1):c.187+279T>C	noncoding	Benign
19	4400317	C	T	C4400317T	SH3GL1	NM_003025.4(SH3GL1):c.45+7G>A	noncoding	Benign
19	4544290	G	A	G4544290A	SEMA6B	NM_032108.4(SEMA6B):c.1978C>T:p.Gln660Ter	coding	Pathogenic
19	4548003	G	A	G4548003A	SEMA6B	NM_032108.4(SEMA6B):c.1601+24C>T	noncoding	Benign
19	4548233	C	A	C4548233A	SEMA6B	NM_032108.4(SEMA6B):c.1454+30G>T	noncoding	Benign
19	4552661	C	T	C4552661T	SEMA6B	NM_032108.4(SEMA6B):c.772-22G>A	noncoding	Benign
19	4557044	A	C	A4557044C	SEMA6B	NM_032108.4(SEMA6B):c.307-31T>G	noncoding	Benign
19	4558419	C	G	C4558419G	SEMA6B	NM_032108.4(SEMA6B):c.39G>C:p.Leu13=	coding	Benign
19	4816449	C	T	C4816449T	TICAM1	NM_182919.4(TICAM1):c.1929G>A:p.Pro643=	coding	Benign
19	5041167	T	C	T5041167C	KDM4B	NM_015015.3(KDM4B):c.348T>C:p.Asp116=	coding	Benign
19	5047680	G	A	G5047680A	KDM4B	NM_015015.3(KDM4B):c.626+11G>A	noncoding	Benign
19	5071042	T	C	T5071042C	KDM4B	NM_015015.3(KDM4B):c.659T>C:p.Leu220Pro	coding	Pathogenic
19	5110783	A	G	A5110783G	KDM4B	NM_015015.3(KDM4B):c.1080A>G:p.Ala360=	coding	Benign
19	5151504	C	T	C5151504T	KDM4B	NM_015015.3(KDM4B):c.3284C>T:p.Pro1095Leu	coding	Pathogenic/Likely_pathogenic
19	5273560	T	G	T5273560G	PTPRS	NM_002850.4(PTPRS):c.261A>C:p.Ala87=	coding	Benign
19	5692155	G	A	G5692155A	LONP1	NM_004793.4(LONP1):c.2757C>T:p.Asp919=	coding	Benign
19	5692181	C	T	C5692181T	LONP1	NM_004793.4(LONP1):c.2731G>A:p.Val911Ile	coding	Benign
19	5692212	G	T	G5692212T	LONP1	NM_004793.4(LONP1):c.2704-4C>A	noncoding	Benign
19	5692300	G	C	G5692300C	LONP1	NM_004793.4(LONP1):c.2704-92C>G	noncoding	Benign
19	5693012	T	C	T5693012C	LONP1	NM_004793.4(LONP1):c.2703+286A>G	noncoding	Benign
19	5693278	G	T	G5693278T	LONP1	NM_004793.4(LONP1):c.2703+20C>A	noncoding	Benign
19	5693298	C	A	C5693298A	LONP1	NM_004793.4(LONP1):c.2703G>T:p.Ala901=	coding	Benign
19	5693605	C	T	C5693605T	LONP1	NM_004793.4(LONP1):c.2485G>A:p.Ala829Thr	coding	Benign
19	5693606	G	A	G5693606A	LONP1	NM_004793.4(LONP1):c.2484C>T:p.His828=	coding	Benign
19	5693627	G	A	G5693627A	LONP1	NM_004793.4(LONP1):c.2463C>T:p.Ala821=	coding	Benign
19	5693947	T	A	T5693947A	LONP1	NM_004793.4(LONP1):c.2321-178A>T	noncoding	Benign
19	5694220	C	G	C5694220G	LONP1	NM_004793.4(LONP1):c.2320+167G>C	noncoding	Benign
19	5694338	G	A	G5694338A	LONP1	NM_004793.4(LONP1):c.2320+49C>T	noncoding	Benign
19	5694372	C	G	C5694372G	LONP1	NM_004793.4(LONP1):c.2320+15G>C	noncoding	Benign
19	5694619	C	T	C5694619T	LONP1	NM_004793.4(LONP1):c.2155-67G>A	noncoding	Benign
19	5694916	G	A	G5694916A	LONP1	NM_004793.4(LONP1):c.2014-15C>T	noncoding	Benign
19	5696090	C	T	C5696090T	LONP1	NM_004793.4(LONP1):c.1977G>A:p.Ser659=	coding	Benign
19	5696234	A	G	A5696234G	LONP1	NM_004793.4(LONP1):c.1896+15T>C	noncoding	Benign
19	5696237	C	G	C5696237G	LONP1	NM_004793.4(LONP1):c.1896+12G>C	noncoding	Benign
19	5696727	C	T	C5696727T	LONP1	NM_004793.4(LONP1):c.1716G>A:p.Lys572=	coding	Benign
19	5696773	G	A	G5696773A	LONP1	NM_004793.4(LONP1):c.1686-16C>T	noncoding	Benign
19	5696809	A	G	A5696809G	LONP1	NM_004793.4(LONP1):c.1686-52T>C	noncoding	Benign
19	5696951	G	A	G5696951A	LONP1	NM_004793.4(LONP1):c.1686-194C>T	noncoding	Benign
19	5698765	G	C	G5698765C	LONP1	NM_004793.4(LONP1):c.1685+262C>G	noncoding	Benign
19	5699015	G	C	G5699015C	LONP1	NM_004793.4(LONP1):c.1685+12C>G	noncoding	Benign
19	5705478	G	T	G5705478T	LONP1	NM_004793.4(LONP1):c.1367+294C>A	noncoding	Benign
19	5705606	T	C	T5705606C	LONP1	NM_004793.4(LONP1):c.1367+166A>G	noncoding	Benign
19	5705636	G	A	G5705636A	LONP1	NM_004793.4(LONP1):c.1367+136C>T	noncoding	Benign
19	5707193	T	C	T5707193C	LONP1	NM_004793.4(LONP1):c.1063-50A>G	noncoding	Benign
19	5707617	G	A	G5707617A	LONP1	NM_004793.4(LONP1):c.1062+80C>T	noncoding	Benign
19	5707833	G	T	G5707833T	LONP1	NM_004793.4(LONP1):c.933-7C>A	noncoding	Benign
19	5708462	G	A	G5708462A	LONP1	NM_004793.4(LONP1):c.871-59C>T	noncoding	Benign
19	5711764	G	A	G5711764A	LONP1	NM_004793.4(LONP1):c.870+7C>T	noncoding	Benign
19	5711955	G	A	G5711955A	LONP1	NM_004793.4(LONP1):c.686C>T:p.Ala229Val	coding	Benign
19	5711985	T	A	T5711985A	LONP1	NM_004793.4(LONP1):c.656A>T:p.Gln219Leu	coding	Benign
19	5712097	C	T	C5712097T	LONP1	NM_004793.4(LONP1):c.639-95G>A	noncoding	Benign
19	5712967	G	A	G5712967A	LONP1	NM_004793.4(LONP1):c.638+167C>T	noncoding	Benign
19	5713898	A	T	A5713898T	LONP1	NM_004793.4(LONP1):c.518+285T>A	noncoding	Benign
19	5719865	C	G	C5719865G	LONP1	NM_004793.4(LONP1):c.268G>C:p.Ala90Pro	coding	Benign
19	5719900	G	A	G5719900A	LONP1	NM_004793.4(LONP1):c.233C>T:p.Ala78Val	coding	Benign
19	5720066	T	C	T5720066C	LONP1	NM_004793.4(LONP1):c.67A>G:p.Met23Val	coding	Benign
19	5892673	C	T	C5892673T	NDUFA11	NM_001193375.3(NDUFA11):c.*244G>A	noncoding	Benign
19	5892732	C	T	C5892732T	NDUFA11	NM_001193375.3(NDUFA11):c.*185G>A	noncoding	Benign
19	5892759	C	T	C5892759T	NDUFA11	NM_001193375.3(NDUFA11):c.*158G>A	noncoding	Benign
19	5892786	T	C	T5892786C	NDUFA11	NM_001193375.3(NDUFA11):c.*131A>G	noncoding	Benign
19	5892943	T	C	T5892943C	NDUFA11	NM_001193375.3(NDUFA11):c.661A>G:p.Thr221Ala	coding	Benign
19	5893047	G	A	G5893047A	NDUFA11	NM_001193375.3(NDUFA11):c.557C>T:p.Ala186Val	coding	Benign
19	5894573	G	A	G5894573A	NDUFA11	NM_001193375.3(NDUFA11):c.314-1283C>T	noncoding	Benign
19	5894634	G	C	G5894634C	NDUFA11	NM_001193375.3(NDUFA11):c.314-1344C>G	noncoding	Benign
19	5895184	C	T	C5895184T	NDUFA11	NM_175614.5(NDUFA11):c.314-330G>A	noncoding	Benign
19	5904056	C	T	C5904056T	NDUFA11	Single_allele	noncoding	Benign
19	5904058	G	A	G5904058A	NDUFA11	Single_allele	noncoding	Benign
19	5904342	C	T	C5904342T	NDUFA11	Single_allele	noncoding	Benign
19	6361326	A	T	A6361326T	CLPP	Single_allele	noncoding	Benign
19	6361330	A	T	A6361330T	CLPP	Single_allele	noncoding	Benign
19	6361332	G	A	G6361332A	CLPP	Single_allele	noncoding	Benign
19	6361691	G	A	G6361691A	CLPP	NM_006012.4(CLPP):c.117G>A:p.Gln39=	coding	Benign/Likely_benign
19	6361965	C	T	C6361965T	CLPP	NM_006012.4(CLPP):c.270+25C>T	noncoding	Benign
19	6362101	A	C	A6362101C	CLPP	NM_006012.4(CLPP):c.270+161A>C	noncoding	Benign
19	6362713	C	T	C6362713T	CLPP	NM_006012.4(CLPP):c.367+171C>T	noncoding	Benign
19	6362776	C	T	C6362776T	CLPP	NM_006012.4(CLPP):c.367+234C>T	noncoding	Benign
19	6364409	G	T	G6364409T	CLPP	NM_006012.4(CLPP):c.368-43G>T	noncoding	Benign
19	6364655	G	A	G6364655A	CLPP	NM_006012.4(CLPP):c.555+16G>A	noncoding	Benign/Likely_benign
19	6366138	C	T	C6366138T	CLPP	NM_006012.4(CLPP):c.556-120C>T	noncoding	Benign
19	6366215	C	T	C6366215T	CLPP	NM_006012.4(CLPP):c.556-43C>T	noncoding	Benign
19	6366219	A	G	A6366219G	CLPP	NM_006012.4(CLPP):c.556-39A>G	noncoding	Benign
19	6366470	G	A	G6366470A	CLPP	NM_006012.4(CLPP):c.661+107G>A	noncoding	Benign
19	6368237	T	G	T6368237G	CLPP	NM_006012.4(CLPP):c.662-301T>G	noncoding	Benign
19	6368264	G	A	G6368264A	CLPP	NM_006012.4(CLPP):c.662-274G>A	noncoding	Benign
19	6368375	T	C	T6368375C	CLPP	NM_006012.4(CLPP):c.662-163T>C	noncoding	Benign
19	6368863	C	G	C6368863G	CLPP	NM_006012.4(CLPP):c.*153C>G	noncoding	Benign
19	6415432	T	C	T6415432C	KHSRP	NM_001366299.1(KHSRP):c.1914A>G:p.Ala638=	coding	Benign
19	6495455	G	A	G6495455A	TUBB4A	NM_006087.4(TUBB4A):c.1044C>T:p.Asn348=	coding	Benign/Likely_benign
19	6495558	G	A	G6495558A	TUBB4A	NM_006087.4(TUBB4A):c.941C>T:p.Ala314Val	coding	Pathogenic/Likely_pathogenic
19	6495737	G	A	G6495737A	TUBB4A	NM_006087.4(TUBB4A):c.762C>T:p.Ala254=	coding	Benign/Likely_benign
19	6502136	G	A	G6502136A	TUBB4A	NM_006087.4(TUBB4A):c.57+20C>T	noncoding	Benign
19	6502144	T	C	T6502144C	TUBB4A	NM_006087.4(TUBB4A):c.57+12A>G	noncoding	Benign
19	6502591	G	A	G6502591A	TUBB4A	NM_001289123.2(TUBB4A):c.33+88C>T	noncoding	Benign
19	6677788	G	A	G6677788A	C3	NM_000064.4(C3):c.*94C>T	noncoding	Benign
19	6678742	A	G	A6678742G	C3	NM_000064.4(C3):c.4631-287T>C	noncoding	Benign
19	6678860	C	A	C6678860A	C3	NM_000064.4(C3):c.4630+265G>T	noncoding	Benign
19	6679552	T	C	T6679552C	C3	NM_000064.4(C3):c.4457-56A>G	noncoding	Benign
19	6679567	G	A	G6679567A	C3	NM_000064.4(C3):c.4457-71C>T	noncoding	Benign
19	6679592	C	A	C6679592A	C3	NM_000064.4(C3):c.4457-96G>T	noncoding	Benign
19	6679634	C	T	C6679634T	C3	NM_000064.4(C3):c.4457-138G>A	noncoding	Benign
19	6679762	C	T	C6679762T	C3	NM_000064.4(C3):c.4457-266G>A	noncoding	Benign
19	6680499	C	T	C6680499T	C3	NM_000064.4(C3):c.4351-236G>A	noncoding	Benign
19	6681660	A	C	A6681660C	C3	NM_000064.4(C3):c.4350+281T>G	noncoding	Benign
19	6684131	A	G	A6684131G	C3	NM_000064.4(C3):c.4172+257T>C	noncoding	Benign
19	6684186	G	A	G6684186A	C3	NM_000064.4(C3):c.4172+202C>T	noncoding	Benign
19	6684405	G	A	G6684405A	C3	NM_000064.4(C3):c.4155C>T:p.Ile1385=	coding	Benign
19	6685219	G	C	G6685219C	C3	NM_000064.4(C3):c.3811-73C>G	noncoding	Benign/Likely_benign
19	6685293	G	C	G6685293C	C3	NM_000064.4(C3):c.3811-147C>G	noncoding	Benign
19	6685919	A	T	A6685919T	C3	NM_000064.4(C3):c.3810+205T>A	noncoding	Benign
19	6685934	C	T	C6685934T	C3	NM_000064.4(C3):c.3810+190G>A	noncoding	Benign
19	6685972	G	C	G6685972C	C3	NM_000064.4(C3):c.3810+152C>G	noncoding	Benign
19	6686078	G	A	G6686078A	C3	NM_000064.4(C3):c.3810+46C>T	noncoding	Benign
19	6686493	C	T	C6686493T	C3	NM_000064.4(C3):c.3647-206G>A	noncoding	Benign
19	6686648	T	C	T6686648C	C3	NM_000064.4(C3):c.3646+98A>G	noncoding	Benign
19	6687121	G	A	G6687121A	C3	NM_000064.4(C3):c.3490-219C>T	noncoding	Benign
19	6687131	G	A	G6687131A	C3	NM_000064.4(C3):c.3490-229C>T	noncoding	Benign
19	6687137	A	C	A6687137C	C3	NM_000064.4(C3):c.3490-235T>G	noncoding	Benign
19	6690449	C	G	C6690449G	C3	NM_000064.4(C3):c.3489+180G>C	noncoding	Benign
19	6690450	G	A	G6690450A	C3	NM_000064.4(C3):c.3489+179C>T	noncoding	Benign
19	6690560	C	T	C6690560T	C3	NM_000064.4(C3):c.3489+69G>A	noncoding	Benign
19	6690602	T	G	T6690602G	C3	NM_000064.4(C3):c.3489+27A>C	noncoding	Benign
19	6690648	A	G	A6690648G	C3	NM_000064.4(C3):c.3470T>C:p.Ile1157Thr	coding	Pathogenic
19	6690760	C	T	C6690760T	C3	NM_000064.4(C3):c.3391-33G>A	noncoding	Benign
19	6690794	T	C	T6690794C	C3	NM_000064.4(C3):c.3391-67A>G	noncoding	Benign
19	6690955	C	T	C6690955T	C3	NM_000064.4(C3):c.3391-228G>A	noncoding	Benign
19	6690971	C	G	C6690971G	C3	NM_000064.4(C3):c.3391-244G>C	noncoding	Benign
19	6692779	A	T	A6692779T	C3	NM_000064.4(C3):c.3390+145T>A	noncoding	Benign
19	6692785	G	C	G6692785C	C3	NM_000064.4(C3):c.3390+139C>G	noncoding	Benign
19	6693152	G	A	G6693152A	C3	NM_000064.4(C3):c.3231-69C>T	noncoding	Benign
19	6693229	G	A	G6693229A	C3	NM_000064.4(C3):c.3231-146C>T	noncoding	Benign
19	6693262	G	A	G6693262A	C3	NM_000064.4(C3):c.3230+150C>T	noncoding	Benign
19	6693306	G	A	G6693306A	C3	NM_000064.4(C3):c.3230+106C>T	noncoding	Benign
19	6693376	G	A	G6693376A	C3	NM_000064.4(C3):c.3230+36C>T	noncoding	Benign
19	6693560	C	T	C6693560T	C3	NM_000064.4(C3):c.3155-73G>A	noncoding	Benign
19	6693625	A	G	A6693625G	C3	NM_000064.4(C3):c.3155-138T>C	noncoding	Benign
19	6693672	A	G	A6693672G	C3	NM_000064.4(C3):c.3155-185T>C	noncoding	Benign
19	6694236	A	G	A6694236G	C3	NM_000064.4(C3):c.3154+195T>C	noncoding	Benign
19	6694388	G	A	G6694388A	C3	NM_000064.4(C3):c.3154+43C>T	noncoding	Benign
19	6694639	A	G	A6694639G	C3	NM_000064.4(C3):c.2951-5T>C	noncoding	Benign
19	6696331	A	G	A6696331G	C3	NM_000064.4(C3):c.2950+48T>C	noncoding	Benign
19	6696413	C	T	C6696413T	C3	NM_000064.4(C3):c.2916G>A:p.Pro972=	coding	Benign
19	6696485	T	C	T6696485C	C3	NM_000064.4(C3):c.2864-20A>G	noncoding	Benign
19	6696546	C	G	C6696546G	C3	NM_000064.4(C3):c.2863+47G>C	noncoding	Benign
19	6696680	G	T	G6696680T	C3	NM_000064.4(C3):c.2797-21C>A	noncoding	Benign
19	6696688	G	A	G6696688A	C3	NM_000064.4(C3):c.2797-29C>T	noncoding	Benign
19	6696778	G	A	G6696778A	C3	NM_000064.4(C3):c.2797-119C>T	noncoding	Benign
19	6696783	T	C	T6696783C	C3	NM_000064.4(C3):c.2797-124A>G	noncoding	Benign
19	6697139	A	C	A6697139C	C3	NM_000064.4(C3):c.2796+205T>G	noncoding	Benign
19	6697611	C	G	C6697611G	C3	NM_000064.4(C3):c.2583+41G>C	noncoding	Benign
19	6697818	G	T	G6697818T	C3	NM_000064.4(C3):c.2441-24C>A	noncoding	Benign
19	6702011	G	C	G6702011C	C3	NM_000064.4(C3):c.2440+116C>G	noncoding	Benign
19	6702031	A	G	A6702031G	C3	NM_000064.4(C3):c.2440+96T>C	noncoding	Benign
19	6702231	G	T	G6702231T	C3	NM_000064.4(C3):c.2355-19C>A	noncoding	Benign
19	6702235	T	C	T6702235C	C3	NM_000064.4(C3):c.2355-23A>G	noncoding	Benign
19	6702444	G	C	G6702444C	C3	NM_000064.4(C3):c.2354+27C>G	noncoding	Benign
19	6702452	G	A	G6702452A	C3	NM_000064.4(C3):c.2354+19C>T	noncoding	Benign
19	6702470	C	T	C6702470T	C3	NM_000064.4(C3):c.2354+1G>A	noncoding	Pathogenic
19	6707556	G	A	G6707556A	C3	NM_000064.4(C3):c.1976-19C>T	noncoding	Benign
19	6709754	C	T	C6709754T	C3	NM_000064.4(C3):c.1775G>A:p.Arg592Gln	coding	Pathogenic/Likely_pathogenic
19	6710134	G	C	G6710134C	C3	NM_000064.4(C3):c.1687-292C>G	noncoding	Benign
19	6710142	G	A	G6710142A	C3	NM_000064.4(C3):c.1687-300C>T	noncoding	Benign
19	6710561	G	A	G6710561A	C3	NM_000064.4(C3):c.1686+78C>T	noncoding	Benign
19	6710619	C	T	C6710619T	C3	NM_000064.4(C3):c.1686+20G>A	noncoding	Benign
19	6710937	G	A	G6710937A	C3	NM_000064.4(C3):c.1479+50C>T	noncoding	Benign
19	6711483	C	T	C6711483T	C3	NM_000064.4(C3):c.1270-287G>A	noncoding	Benign
19	6711947	A	G	A6711947G	C3	NM_000064.4(C3):c.1269+310T>C	noncoding	Benign
19	6712507	C	T	C6712507T	C3	NM_000064.4(C3):c.1119+1G>A	noncoding	Pathogenic
19	6713164	G	C	G6713164C	C3	NM_000064.4(C3):c.1003+25C>G	noncoding	Benign
19	6718031	C	T	C6718031T	C3	NM_000064.4(C3):c.504+63G>A	noncoding	Benign
19	6718067	T	G	T6718067G	C3	NM_000064.4(C3):c.504+27A>C	noncoding	Benign
19	6718117	G	A	G6718117A	C3	NM_000064.4(C3):c.481C>T:p.Arg161Trp	coding	Pathogenic
19	6718523	T	C	T6718523C	C3	NM_000064.4(C3):c.268-111A>G	noncoding	Benign
19	6718917	A	G	A6718917G	C3	NM_000064.4(C3):c.267+294T>C	noncoding	Benign
19	6719616	C	T	C6719616T	C3	NM_000064.4(C3):c.75-213G>A	noncoding	Benign
19	6719647	C	G	C6719647G	C3	NM_000064.4(C3):c.75-244G>C	noncoding	Benign
19	6719655	A	G	A6719655G	C3	NM_000064.4(C3):c.75-252T>C	noncoding	Benign
19	6720402	C	A	C6720402A	C3	NM_000064.4(C3):c.74+114G>T	noncoding	Benign
19	6821657	G	A	G6821657A	VAV1	NM_005428.4(VAV1):c.357G>A:p.Pro119=	coding	Benign
19	6822281	C	T	C6822281T	VAV1	NM_005428.4(VAV1):c.510C>T:p.Gly170=	coding	Benign
19	6825292	C	T	C6825292T	VAV1	NM_005428.4(VAV1):c.724-11C>T	noncoding	Benign
19	6825296	C	T	C6825296T	VAV1	NM_005428.4(VAV1):c.724-7C>T	noncoding	Benign
19	6828494	G	C	G6828494C	VAV1	NM_005428.4(VAV1):c.1092+7G>C	noncoding	Benign
19	6828919	G	A	G6828919A	VAV1	NM_005428.4(VAV1):c.1265+19G>A	noncoding	Benign
19	6832207	C	A	C6832207A	VAV1	NM_005428.4(VAV1):c.1508+7C>A	noncoding	Benign
19	6833618	T	C	T6833618C	VAV1	NM_005428.4(VAV1):c.1701T>C:p.His567=	coding	Benign
19	6833700	C	T	C6833700T	VAV1	NM_005428.4(VAV1):c.1709-11C>T	noncoding	Benign
19	6833746	C	T	C6833746T	VAV1	NM_005428.4(VAV1):c.1731+13C>T	noncoding	Benign
19	6833972	C	T	C6833972T	VAV1	NM_005428.4(VAV1):c.1777+19C>T	noncoding	Benign
19	6836499	C	T	C6836499T	VAV1	NM_005428.4(VAV1):c.1845C>T:p.Pro615=	coding	Benign
19	6850775	C	T	C6850775T	VAV1	NM_005428.4(VAV1):c.2217+18C>T	noncoding	Benign
19	7117072	C	T	C7117072T	INSR	NM_000208.4(INSR):c.4133G>A:p.Arg1378Gln	coding	Benign
19	7117476	C	T	C7117476T	INSR	NM_000208.4(INSR):c.3795-66G>A	noncoding	Benign
19	7117495	G	A	G7117495A	INSR	NM_000208.4(INSR):c.3795-85C>T	noncoding	Benign
19	7119640	G	A	G7119640A	INSR	NM_000208.4(INSR):c.3660-57C>T	noncoding	Benign
19	7119642	G	A	G7119642A	INSR	NM_000208.4(INSR):c.3660-59C>T	noncoding	Benign
19	7119647	C	T	C7119647T	INSR	NM_000208.4(INSR):c.3660-64G>A	noncoding	Benign
19	7122788	C	T	C7122788T	INSR	NM_000208.4(INSR):c.3370-15G>A	noncoding	Benign/Likely_benign
19	7124975	C	T	C7124975T	INSR	NM_000208.4(INSR):c.3258+308G>A	noncoding	Benign
19	7126313	T	C	T7126313C	INSR	NM_000208.4(INSR):c.3013+271A>G	noncoding	Benign
19	7129053	G	T	G7129053T	INSR	NM_000208.4(INSR):c.2843-99C>A	noncoding	Benign
19	7129075	A	G	A7129075G	INSR	NM_000208.4(INSR):c.2843-121T>C	noncoding	Benign
19	7132070	C	T	C7132070T	INSR	NM_000208.4(INSR):c.2842+88G>A	noncoding	Benign
19	7132559	T	C	T7132559C	INSR	NM_000208.4(INSR):c.2683-242A>G	noncoding	Benign
19	7132560	G	A	G7132560A	INSR	NM_000208.4(INSR):c.2683-243C>T	noncoding	Benign
19	7141494	G	T	G7141494T	INSR	NM_000208.4(INSR):c.2682+183C>A	noncoding	Benign
19	7142687	C	T	C7142687T	INSR	NM_000208.4(INSR):c.2542+129G>A	noncoding	Benign
19	7150407	C	G	C7150407G	INSR	NM_000208.4(INSR):c.2267+90G>C	noncoding	Benign
19	7152692	C	T	C7152692T	INSR	NM_000208.4(INSR):c.2231+34G>A	noncoding	Benign
19	7152995	A	C	A7152995C	INSR	NM_000208.4(INSR):c.2030-68T>G	noncoding	Benign
19	7153000	A	C	A7153000C	INSR	NM_000208.4(INSR):c.2030-73T>G	noncoding	Benign
19	7153015	A	C	A7153015C	INSR	NM_000208.4(INSR):c.2030-88T>G	noncoding	Benign
19	7163315	T	C	T7163315C	INSR	NM_000208.4(INSR):c.1862-116A>G	noncoding	Benign
19	7166098	A	G	A7166098G	INSR	NM_000208.4(INSR):c.1861+56T>C	noncoding	Benign
19	7166530	A	G	A7166530G	INSR	NM_000208.4(INSR):c.1611-126T>C	noncoding	Benign
19	7167704	A	G	A7167704G	INSR	NM_000208.4(INSR):c.1610+264T>C	noncoding	Benign
19	7167806	C	A	C7167806A	INSR	NM_000208.4(INSR):c.1610+162G>T	noncoding	Benign
19	7168202	C	G	C7168202G	INSR	NM_000208.4(INSR):c.1484-108G>C	noncoding	Benign
19	7168202	C	T	C7168202T	INSR	NM_000208.4(INSR):c.1484-108G>A	noncoding	Benign
19	7170672	G	A	G7170672A	INSR	NM_000208.4(INSR):c.1348C>T:p.Gln450Ter	coding	Pathogenic
19	7170850	G	A	G7170850A	INSR	NM_000208.4(INSR):c.1269-99C>T	noncoding	Benign
19	7170982	T	C	T7170982C	INSR	NM_000208.4(INSR):c.1269-231A>G	noncoding	Benign
19	7172312	G	A	G7172312A	INSR	NM_000208.4(INSR):c.1246C>T:p.Arg416Ter	coding	Pathogenic
19	7172515	C	A	C7172515A	INSR	NM_000208.4(INSR):c.1124-81G>T	noncoding	Benign
19	7184076	G	A	G7184076A	INSR	NM_000208.4(INSR):c.974+240C>T	noncoding	Benign
19	7184143	A	G	A7184143G	INSR	NM_000208.4(INSR):c.974+173T>C	noncoding	Benign
19	7184227	G	A	G7184227A	INSR	NM_000208.4(INSR):c.974+89C>T	noncoding	Benign
19	7184232	C	G	C7184232G	INSR	NM_000208.4(INSR):c.974+84G>C	noncoding	Benign
19	7184264	C	T	C7184264T	INSR	NM_000208.4(INSR):c.974+52G>A	noncoding	Benign
19	7184710	C	T	C7184710T	INSR	NM_000208.4(INSR):c.653-73G>A	noncoding	Benign
19	7184751	A	G	A7184751G	INSR	NM_000208.4(INSR):c.653-114T>C	noncoding	Benign
19	7184790	C	T	C7184790T	INSR	NM_000208.4(INSR):c.653-153G>A	noncoding	Benign
19	7267928	G	A	G7267928A	INSR	NM_000208.4(INSR):c.101-32C>T	noncoding	Benign
19	7293549	C	T	C7293549T	INSR	NM_000208.4(INSR):c.100+243G>A	noncoding	Benign
19	7440096	C	T	C7440096T	ARHGEF18	NM_001367823.1(ARHGEF18):c.968-248C>T	coding	Benign
19	7440213	G	A	G7440213A	ARHGEF18	NM_001367823.1(ARHGEF18):c.968-131G>A	coding	Benign
19	7441780	G	A	G7441780A	ARHGEF18	NM_001367823.1(ARHGEF18):c.1219+15G>A	noncoding	Benign
19	7441782	T	G	T7441782G	ARHGEF18	NM_001367823.1(ARHGEF18):c.1219+17T>G	noncoding	Benign
19	7442072	G	A	G7442072A	ARHGEF18	NM_001367823.1(ARHGEF18):c.1360+20G>A	noncoding	Benign
19	7447081	C	T	C7447081T	ARHGEF18	NM_001367823.1(ARHGEF18):c.1650C>T:p.Tyr550=	coding	Benign
19	7447179	T	A	T7447179A	ARHGEF18	NM_001367823.1(ARHGEF18):c.1737+11T>A	noncoding	Benign
19	7451184	C	T	C7451184T	ARHGEF18	NM_001367823.1(ARHGEF18):c.1773C>T:p.Gly591=	coding	Benign
19	7451277	T	C	T7451277C	ARHGEF18	NM_001367823.1(ARHGEF18):c.1855+11T>C	noncoding	Benign
19	7459885	C	T	C7459885T	ARHGEF18	NM_001367823.1(ARHGEF18):c.2361-18C>T	noncoding	Benign
19	7459960	C	T	C7459960T	ARHGEF18	NM_001367823.1(ARHGEF18):c.2418C>T:p.Val806=	coding	Benign
19	7459969	C	T	C7459969T	ARHGEF18	NM_001367823.1(ARHGEF18):c.2427C>T:p.Arg809=	coding	Benign
19	7460008	A	T	A7460008T	ARHGEF18	NM_001367823.1(ARHGEF18):c.2452+14A>T	noncoding	Benign
19	7460009	G	A	G7460009A	ARHGEF18	NM_001367823.1(ARHGEF18):c.2452+15G>A	noncoding	Benign
19	7462260	G	C	G7462260C	ARHGEF18	NM_001367823.1(ARHGEF18):c.2561G>C:p.Arg854Pro	coding	Benign
19	7463848	A	G	A7463848G	ARHGEF18	NM_001367823.1(ARHGEF18):c.2666A>G:p.Gln889Arg	coding	Benign
19	7463966	G	A	G7463966A	ARHGEF18	NM_001367823.1(ARHGEF18):c.2773+11G>A	noncoding	Benign
19	7464630	C	T	C7464630T	ARHGEF18	NM_001367823.1(ARHGEF18):c.2844C>T:p.Ser948=	coding	Benign
19	7466970	C	T	C7466970T	ARHGEF18	NM_001367823.1(ARHGEF18):c.2957C>T:p.Ser986Leu	coding	Benign
19	7466987	G	A	G7466987A	ARHGEF18	NM_001367823.1(ARHGEF18):c.2961+13G>A	noncoding	Benign
19	7467125	G	C	G7467125C	ARHGEF18	NM_001367823.1(ARHGEF18):c.3009+7G>C	noncoding	Benign
19	7467322	C	A	C7467322A	ARHGEF18	NM_001367823.1(ARHGEF18):c.3118C>A:p.Gln1040Lys	coding	Benign
19	7467349	C	T	C7467349T	ARHGEF18	NM_001367823.1(ARHGEF18):c.3145C>T:p.Gln1049Ter	coding	Pathogenic
19	7467366	G	C	G7467366C	ARHGEF18	NM_001367823.1(ARHGEF18):c.3162G>C:p.Ala1054=	coding	Benign
19	7467421	G	A	G7467421A	ARHGEF18	NM_001367823.1(ARHGEF18):c.3217G>A:p.Glu1073Lys	coding	Benign
19	7467544	C	T	C7467544T	ARHGEF18	NM_001367823.1(ARHGEF18):c.3340C>T:p.Gln1114Ter	coding	Pathogenic
19	7467648	C	G	C7467648G	ARHGEF18	NM_001367823.1(ARHGEF18):c.3444C>G:p.Thr1148=	coding	Benign
19	7467690	C	T	C7467690T	ARHGEF18	NM_001367823.1(ARHGEF18):c.3480+6C>T	noncoding	Benign
19	7467691	G	A	G7467691A	ARHGEF18	NM_001367823.1(ARHGEF18):c.3480+7G>A	noncoding	Benign
19	7468881	T	G	T7468881G	ARHGEF18	NM_001367823.1(ARHGEF18):c.3537T>G:p.Arg1179=	coding	Benign
19	7468929	C	G	C7468929G	ARHGEF18	NM_001367823.1(ARHGEF18):c.3585C>G:p.Pro1195=	coding	Benign
19	7468964	A	G	A7468964G	ARHGEF18	NM_001367823.1(ARHGEF18):c.3620A>G:p.Asn1207Ser	coding	Benign
19	7522487	G	A	G7522487A	MCOLN1	Single_allele	noncoding	Benign
19	7524995	T	G	T7524995G	MCOLN1	NM_020533.3(MCOLN1):c.66T>G:p.Tyr22Ter	coding	Pathogenic
19	7525088	C	A	C7525088A	MCOLN1	NM_020533.3(MCOLN1):c.159C>A:p.Cys53Ter	coding	Pathogenic
19	7525098	C	T	C7525098T	MCOLN1	NM_020533.3(MCOLN1):c.169C>T:p.Arg57Ter	coding	Pathogenic
19	7526679	G	T	G7526679T	MCOLN1	NM_020533.3(MCOLN1):c.405+73G>T	noncoding	Benign
19	7526723	G	A	G7526723A	MCOLN1	NM_020533.3(MCOLN1):c.406-38G>A	noncoding	Benign
19	7526854	C	T	C7526854T	MCOLN1	NM_020533.3(MCOLN1):c.499C>T:p.Gln167Ter	coding	Pathogenic
19	7526862	C	G	C7526862G	MCOLN1	NM_020533.3(MCOLN1):c.507C>G:p.Tyr169Ter	coding	Pathogenic
19	7526869	C	T	C7526869T	MCOLN1	NM_020533.3(MCOLN1):c.514C>T:p.Arg172Ter	coding	Pathogenic/Likely_pathogenic
19	7526928	T	C	T7526928C	MCOLN1	NM_020533.3(MCOLN1):c.571+2T>C	noncoding	Pathogenic/Likely_pathogenic
19	7527132	C	T	C7527132T	MCOLN1	NM_020533.3(MCOLN1):c.571+206C>T	noncoding	Benign
19	7527271	C	A	C7527271A	MCOLN1	NM_020533.3(MCOLN1):c.572-249C>A	noncoding	Benign
19	7527602	C	A	C7527602A	MCOLN1	NM_020533.3(MCOLN1):c.654C>A:p.Tyr218Ter	coding	Pathogenic
19	7527642	A	T	A7527642T	MCOLN1	NM_020533.3(MCOLN1):c.680+14A>T	noncoding	Benign/Likely_benign
19	7528224	C	T	C7528224T	MCOLN1	NM_020533.3(MCOLN1):c.844C>T:p.Gln282Ter	coding	Pathogenic
19	7529273	G	A	G7529273A	MCOLN1	NM_020533.3(MCOLN1):c.1236+71G>A	noncoding	Benign
19	7529361	C	A	C7529361A	MCOLN1	NM_020533.3(MCOLN1):c.1236+159C>A	noncoding	Benign
19	7530188	A	G	A7530188G	MCOLN1	NM_020533.3(MCOLN1):c.1360-98A>G	noncoding	Benign
19	7530235	C	T	C7530235T	MCOLN1	NM_020533.3(MCOLN1):c.1360-51C>T	noncoding	Benign
19	7530273	G	A	G7530273A	MCOLN1;PNPLA6	NM_020533.3(MCOLN1):c.1360-13G>A	noncoding	Benign/Likely_benign
19	7530570	G	A	G7530570A	MCOLN1	NM_020533.3(MCOLN1):c.1575+69G>A	noncoding	Benign
19	7533574	C	T	C7533574T	MCOLN1	NM_020533.3(MCOLN1):c.1627C>T:p.Gln543Ter	coding	Pathogenic
19	7533693	G	A	G7533693A	MCOLN1	NM_020533.3(MCOLN1):c.1706+40G>A	noncoding	Benign
19	7533693	G	C	G7533693C	MCOLN1	NM_020533.3(MCOLN1):c.1706+40G>C	noncoding	Benign
19	7534329	C	T	C7534329T	PNPLA6	NM_006702.5(PNPLA6):c.-196+90C>T	noncoding	Benign
19	7535122	T	C	T7535122C	PNPLA6	NM_006702.5(PNPLA6):c.-43+220T>C	noncoding	Benign
19	7535618	G	A	G7535618A	PNPLA6	NM_006702.5(PNPLA6):c.27+41G>A	noncoding	Benign
19	7535654	C	G	C7535654G	PNPLA6	NM_006702.5(PNPLA6):c.27+77C>G	noncoding	Benign
19	7536113	T	C	T7536113C	PNPLA6	NM_001166114.2(PNPLA6):c.233-78T>C	noncoding	Benign
19	7536431	C	T	C7536431T	PNPLA6	NM_001166114.2(PNPLA6):c.316-18C>T	noncoding	Benign
19	7539900	C	T	C7539900T	PNPLA6	NM_001166114.2(PNPLA6):c.414-18C>T	noncoding	Benign/Likely_benign
19	7540129	G	A	G7540129A	PNPLA6	NM_001166114.2(PNPLA6):c.555-20G>A	noncoding	Benign
19	7540751	G	A	G7540751A	PNPLA6	NM_001166114.2(PNPLA6):c.795+41G>A	noncoding	Benign
19	7541024	C	A	C7541024A	PNPLA6	NM_001166114.2(PNPLA6):c.897C>A:p.Tyr299Ter	coding	Pathogenic
19	7541342	C	T	C7541342T	PNPLA6	NM_001166114.2(PNPLA6):c.925-12C>T	noncoding	Benign/Likely_benign
19	7541448	G	A	G7541448A	PNPLA6	NM_001166114.2(PNPLA6):c.1005+14G>A	noncoding	Benign/Likely_benign
19	7541851	G	C	G7541851C	PNPLA6	NM_001166114.2(PNPLA6):c.1169-133G>C	noncoding	Benign
19	7542018	C	A	C7542018A	PNPLA6	NM_001166114.2(PNPLA6):c.1203C>A:p.Pro401=	coding	Benign
19	7542137	T	C	T7542137C	PNPLA6	NM_001166114.2(PNPLA6):c.1252+70T>C	noncoding	Benign
19	7542671	G	C	G7542671C	PNPLA6	NM_001166114.2(PNPLA6):c.1362+1G>C	coding	Pathogenic
19	7542854	C	A	C7542854A	PNPLA6	NM_001166114.2(PNPLA6):c.1456C>A:p.Pro486Thr	coding	Pathogenic
19	7542939	G	A	G7542939A	PNPLA6	NM_001166114.2(PNPLA6):c.1530+11G>A	noncoding	Benign/Likely_benign
19	7543082	C	T	C7543082T	PNPLA6	NM_001166114.2(PNPLA6):c.1606C>T:p.Gln536Ter	coding	Pathogenic
19	7543249	C	A	C7543249A	PNPLA6	NM_001166114.2(PNPLA6):c.1608+165C>A	noncoding	Benign
19	7543329	T	C	T7543329C	PNPLA6	NM_001166114.2(PNPLA6):c.1608+245T>C	noncoding	Benign
19	7550616	C	A	C7550616A	PNPLA6	NM_001166114.2(PNPLA6):c.2046C>A:p.Tyr682Ter	coding	Pathogenic
19	7550699	T	G	T7550699G	PNPLA6	NM_001166114.2(PNPLA6):c.2070+59T>G	noncoding	Benign
19	7551072	G	C	G7551072C	PNPLA6	NM_001166114.2(PNPLA6):c.2149G>C:p.Gly717Arg	coding	Pathogenic
19	7551105	C	A	C7551105A	PNPLA6	NM_001166114.2(PNPLA6):c.2182C>A:p.Gln728Lys	coding	Pathogenic
19	7551173	T	C	T7551173C	PNPLA6	NM_001166114.2(PNPLA6):c.2184+66T>C	noncoding	Benign
19	7551230	A	C	A7551230C	PNPLA6	NM_001166114.2(PNPLA6):c.2184+123A>C	noncoding	Benign
19	7551461	G	A	G7551461A	PNPLA6	NM_001166114.2(PNPLA6):c.2260+24G>A	noncoding	Benign
19	7551565	G	A	G7551565A	PNPLA6	NM_001166114.2(PNPLA6):c.2260+128G>A	noncoding	Benign
19	7551588	C	G	C7551588G	PNPLA6	NM_001166114.2(PNPLA6):c.2260+151C>G	noncoding	Benign
19	7551633	G	A	G7551633A	PNPLA6	NM_001166114.2(PNPLA6):c.2260+196G>A	noncoding	Benign
19	7553635	T	C	T7553635C	PNPLA6	NM_001166114.2(PNPLA6):c.2261-240T>C	noncoding	Benign
19	7553774	A	G	A7553774G	PNPLA6	NM_001166114.2(PNPLA6):c.2261-101A>G	noncoding	Benign
19	7554050	G	A	G7554050A	PNPLA6	NM_001166114.2(PNPLA6):c.2401+35G>A	noncoding	Benign
19	7554222	C	T	C7554222T	PNPLA6	NM_001166114.2(PNPLA6):c.2415C>T:p.Leu805=	coding	Benign
19	7554313	C	G	C7554313G	PNPLA6	NM_001166114.2(PNPLA6):c.2465+41C>G	noncoding	Benign
19	7554353	T	C	T7554353C	PNPLA6	NM_001166114.2(PNPLA6):c.2465+81T>C	noncoding	Benign
19	7554443	G	A	G7554443A	PNPLA6	NM_001166114.2(PNPLA6):c.2466-112G>A	noncoding	Benign
19	7554452	G	C	G7554452C	PNPLA6	NM_001166114.2(PNPLA6):c.2466-103G>C	noncoding	Benign
19	7554761	G	A	G7554761A	PNPLA6	NM_001166114.2(PNPLA6):c.2634+38G>A	noncoding	Benign
19	7554761	G	C	G7554761C	PNPLA6	NM_001166114.2(PNPLA6):c.2634+38G>C	noncoding	Benign
19	7554762	T	C	T7554762C	PNPLA6	NM_001166114.2(PNPLA6):c.2634+39T>C	noncoding	Benign
19	7554814	G	A	G7554814A	PNPLA6	NM_001166114.2(PNPLA6):c.2635-79G>A	noncoding	Benign
19	7555092	C	T	C7555092T	PNPLA6	NM_001166114.2(PNPLA6):c.2817+17C>T	noncoding	Benign
19	7555883	A	G	A7555883G	PNPLA6	NM_001166114.2(PNPLA6):c.3093+120A>G	noncoding	Benign
19	7556336	A	G	A7556336G	PNPLA6	NM_001166114.2(PNPLA6):c.3094-117A>G	noncoding	Benign
19	7556762	C	T	C7556762T	PNPLA6	NM_001166114.2(PNPLA6):c.3280+38C>T	noncoding	Benign
19	7556930	G	A	G7556930A	PNPLA6	NM_001166114.2(PNPLA6):c.3280+206G>A	noncoding	Benign
19	7556937	G	A	G7556937A	PNPLA6	NM_001166114.2(PNPLA6):c.3280+213G>A	noncoding	Benign
19	7557095	A	G	A7557095G	PNPLA6	NM_001166114.2(PNPLA6):c.3281-73A>G	noncoding	Benign
19	7557242	G	A	G7557242A	PNPLA6	NM_001166114.2(PNPLA6):c.3355G>A:p.Gly1119Arg	coding	Pathogenic/Likely_pathogenic
19	7557340	G	A	G7557340A	PNPLA6	NM_001166114.2(PNPLA6):c.3397+56G>A	noncoding	Benign
19	7557474	C	T	C7557474T	PNPLA6	NM_001166114.2(PNPLA6):c.3397+190C>T	noncoding	Benign
19	7558698	T	C	T7558698C	PNPLA6	NM_001166114.2(PNPLA6):c.3398-152T>C	noncoding	Benign
19	7558814	G	A	G7558814A	PNPLA6	NM_001166114.2(PNPLA6):c.3398-36G>A	noncoding	Benign
19	7559168	G	A	G7559168A	PNPLA6	NM_001166114.2(PNPLA6):c.3699+17G>A	noncoding	Benign/Likely_benign
19	7559192	C	T	C7559192T	PNPLA6	NM_001166114.2(PNPLA6):c.3699+41C>T	noncoding	Benign
19	7560837	C	T	C7560837T	PNPLA6	NM_001166114.2(PNPLA6):c.3816+73C>T	noncoding	Benign
19	7560988	A	G	A7560988G	PNPLA6	NM_001166114.2(PNPLA6):c.3817-26A>G	noncoding	Benign
19	7561185	T	C	T7561185C	PNPLA6	NM_001166114.2(PNPLA6):c.3914-23T>C	noncoding	Benign
19	7561389	C	G	C7561389G	PNPLA6	NM_001166114.2(PNPLA6):c.4023+72C>G	noncoding	Benign
19	7561477	T	G	T7561477G	PNPLA6	NM_001166114.2(PNPLA6):c.4024-11T>G	noncoding	Benign
19	7561510	G	A	G7561510A	PNPLA6	NM_001166114.2(PNPLA6):c.4046G>A:p.Arg1349Gln	coding	Pathogenic/Likely_pathogenic
19	7561783	G	A	G7561783A	PNPLA6	Single_allele	noncoding	Benign
19	7629652	A	G	A7629652G	PET100	Single_allele	noncoding	Benign
19	7629716	C	G	C7629716G	PET100	Single_allele	noncoding	Benign
19	7629834	A	G	A7629834G	PET100	NM_001171155.2(PET100):c.1A>G:p.Met1Val	coding	Pathogenic
19	7629834	A	T	A7629834T	PET100	NM_001171155.2(PET100):c.1A>T:p.Met1Leu	coding	Pathogenic
19	7630450	A	G	A7630450G	PET100	NM_001171155.2(PET100):c.28-123A>G	noncoding	Benign
19	7630734	T	C	T7630734C	PET100	NM_001171155.2(PET100):c.114+75T>C	noncoding	Benign
19	7630955	A	G	A7630955G	PET100	NM_001171155.2(PET100):c.138+109A>G	noncoding	Benign
19	7631535	C	T	C7631535T	PET100	NM_001171155.2(PET100):c.201C>T:p.Arg67=	coding	Benign/Likely_benign
19	7636780	C	A	C7636780A	STXBP2	Single_allele	noncoding	Benign
19	7636862	T	C	T7636862C	STXBP2	Single_allele	noncoding	Benign
19	7637250	G	A	G7637250A	STXBP2	NM_006949.4(STXBP2):c.37+64G>A	noncoding	Benign
19	7639746	A	G	A7639746G	STXBP2	NM_006949.4(STXBP2):c.185A>G:p.Asn62Ser	coding	Benign/Likely_benign
19	7639825	C	T	C7639825T	STXBP2	NM_006949.4(STXBP2):c.246+18C>T	noncoding	Benign
19	7642841	T	A	T7642841A	STXBP2	NM_006949.4(STXBP2):c.960+18T>A	noncoding	Benign
19	7643004	C	T	C7643004T	STXBP2	NM_006949.4(STXBP2):c.982C>T:p.Gln328Ter	coding	Pathogenic
19	7643328	G	A	G7643328A	STXBP2	NM_006949.4(STXBP2):c.1107+83G>A	noncoding	Benign
19	7644288	C	T	C7644288T	STXBP2	NM_006949.4(STXBP2):c.1108-326C>T	noncoding	Benign
19	7644385	A	G	A7644385G	STXBP2	NM_006949.4(STXBP2):c.1108-229A>G	noncoding	Benign
19	7644719	C	T	C7644719T	STXBP2	NM_006949.4(STXBP2):c.1213C>T:p.Arg405Trp	coding	Pathogenic
19	7645383	A	G	A7645383G	STXBP2	NM_006949.4(STXBP2):c.1356+77A>G	noncoding	Benign
19	7645449	C	T	C7645449T	STXBP2	NM_006949.4(STXBP2):c.1356+143C>T	noncoding	Benign
19	7645457	G	A	G7645457A	STXBP2	NM_006949.4(STXBP2):c.1356+151G>A	noncoding	Benign
19	7645968	T	C	T7645968C	STXBP2	NM_006949.4(STXBP2):c.1357-281T>C	noncoding	Benign
19	7647234	C	T	C7647234T	STXBP2	NM_006949.4(STXBP2):c.1525C>T:p.Gln509Ter	coding	Pathogenic
19	7647258	G	A	G7647258A	STXBP2	NM_006949.4(STXBP2):c.1538+11G>A	noncoding	Benign
19	7647588	G	A	G7647588A	STXBP2	NM_006949.4(STXBP2):c.1696+77G>A	noncoding	Benign
19	7682407	T	G	T7682407G	TRAPPC5	NM_001042462.2(TRAPPC5):c.154T>G:p.Ser52Ala	coding	Benign
19	7682559	G	A	G7682559A	TRAPPC5	NM_001042462.2(TRAPPC5):c.306G>A:p.Ala102=	coding	Benign
19	7911231	T	C	T7911231C	MAP2K7	NM_145185.4(MAP2K7):c.856-19T>C	noncoding	Benign
19	7911242	C	G	C7911242G	MAP2K7	NM_145185.4(MAP2K7):c.856-8C>G	noncoding	Benign
19	7932791	G	A	G7932791A	TIMM44	NM_006351.4(TIMM44):c.863-40C>T	noncoding	Benign
19	7932798	G	A	G7932798A	TIMM44	NM_006351.4(TIMM44):c.862+42C>T	noncoding	Benign
19	7935219	A	G	A7935219G	TIMM44	NM_006351.4(TIMM44):c.313-74T>C	noncoding	Benign
19	7967548	G	A	G7967548A	ELAVL1	NM_001419.3(ELAVL1):c.656+17C>T	noncoding	Benign
19	7967796	C	T	C7967796T	ELAVL1	NM_001419.3(ELAVL1):c.431-6G>A	noncoding	Benign
19	8066189	G	A	G8066189A	FBN3	NM_032447.5(FBN3):c.8160C>T:p.Ala2720=	coding	Benign
19	8072168	G	A	G8072168A	FBN3	NM_032447.5(FBN3):c.7968C>T:p.Pro2656=	coding	Benign
19	8072212	G	A	G8072212A	FBN3	NM_032447.5(FBN3):c.7938-14C>T	noncoding	Benign
19	8072218	G	T	G8072218T	FBN3	NM_032447.5(FBN3):c.7938-20C>A	noncoding	Benign
19	8073170	C	A	C8073170A	FBN3	NM_032447.5(FBN3):c.7830G>T:p.Glu2610Asp	coding	Benign
19	8075093	G	A	G8075093A	FBN3	NM_032447.5(FBN3):c.7680C>T:p.His2560=	coding	Benign
19	8075153	A	C	A8075153C	FBN3	NM_032447.5(FBN3):c.7620T>G:p.His2540Gln	coding	Benign
19	8075264	A	G	A8075264G	FBN3	NM_032447.5(FBN3):c.7582+19T>C	noncoding	Benign
19	8081020	T	C	T8081020C	FBN3	NM_032447.5(FBN3):c.7436A>G:p.His2479Arg	coding	Benign
19	8081037	C	T	C8081037T	FBN3	NM_032447.5(FBN3):c.7419G>A:p.Pro2473=	coding	Benign
19	8081044	C	T	C8081044T	FBN3	NM_032447.5(FBN3):c.7412G>A:p.Arg2471His	coding	Benign
19	8081129	G	A	G8081129A	FBN3	NM_032447.5(FBN3):c.7337-10C>T	noncoding	Benign
19	8081343	T	C	T8081343C	FBN3	NM_032447.5(FBN3):c.7336+15A>G	noncoding	Benign
19	8085469	C	T	C8085469T	FBN3	NM_032447.5(FBN3):c.6981G>A:p.Gly2327=	coding	Benign
19	8085472	A	G	A8085472G	FBN3	NM_032447.5(FBN3):c.6978T>C:p.Cys2326=	coding	Benign
19	8085509	C	T	C8085509T	FBN3	NM_032447.5(FBN3):c.6941G>A:p.Ser2314Asn	coding	Benign
19	8085544	G	A	G8085544A	FBN3	NM_032447.5(FBN3):c.6906C>T:p.Ala2302=	coding	Benign
19	8086285	G	A	G8086285A	FBN3	NM_032447.5(FBN3):c.6795C>T:p.Asn2265=	coding	Benign
19	8087841	A	G	A8087841G	FBN3	NM_032447.5(FBN3):c.6603T>C:p.Asp2201=	coding	Benign
19	8089525	G	A	G8089525A	FBN3	NM_032447.5(FBN3):c.6376+20C>T	noncoding	Benign
19	8089630	G	A	G8089630A	FBN3	NM_032447.5(FBN3):c.6291C>T:p.Asn2097=	coding	Benign
19	8089685	C	T	C8089685T	FBN3	NM_032447.5(FBN3):c.6251-15G>A	noncoding	Benign
19	8089876	T	C	T8089876C	FBN3	NM_032447.5(FBN3):c.6250+18A>G	noncoding	Benign
19	8089971	G	A	G8089971A	FBN3	NM_032447.5(FBN3):c.6185-12C>T	noncoding	Benign
19	8090100	G	A	G8090100A	FBN3	NM_032447.5(FBN3):c.6183C>T:p.Ser2061=	coding	Benign
19	8090106	C	T	C8090106T	FBN3	NM_032447.5(FBN3):c.6177G>A:p.Glu2059=	coding	Benign
19	8094455	G	C	G8094455C	FBN3	NM_032447.5(FBN3):c.5896C>G:p.His1966Asp	coding	Benign
19	8094478	G	T	G8094478T	FBN3	NM_032447.5(FBN3):c.5873C>A:p.Pro1958His	coding	Benign
19	8094525	G	T	G8094525T	FBN3	NM_032447.5(FBN3):c.5826C>A:p.Pro1942=	coding	Benign
19	8095450	G	A	G8095450A	FBN3	NM_032447.5(FBN3):c.5710C>T:p.Leu1904Phe	coding	Benign
19	8096013	G	C	G8096013C	FBN3	NM_032447.5(FBN3):c.5607C>G:p.Asn1869Lys	coding	Benign
19	8096566	C	T	C8096566T	FBN3	NM_032447.5(FBN3):c.5417G>A:p.Arg1806Gln	coding	Benign
19	8096893	C	T	C8096893T	FBN3	NM_032447.5(FBN3):c.5401G>A:p.Gly1801Arg	coding	Benign
19	8100959	G	A	G8100959A	FBN3	NM_032447.5(FBN3):c.5103C>T:p.Ile1701=	coding	Benign
19	8100984	G	A	G8100984A	FBN3	NM_032447.5(FBN3):c.5090-12C>T	noncoding	Benign
19	8102706	T	C	T8102706C	FBN3	NM_032447.5(FBN3):c.5089+18A>G	noncoding	Benign
19	8103661	C	T	C8103661T	FBN3	NM_032447.5(FBN3):c.4840G>A:p.Gly1614Ser	coding	Benign
19	8106184	G	A	G8106184A	FBN3	NM_032447.5(FBN3):c.4737C>T:p.Cys1579=	coding	Benign
19	8106249	G	A	G8106249A	FBN3	NM_032447.5(FBN3):c.4688-16C>T	noncoding	Benign
19	8109214	C	T	C8109214T	FBN3	NM_032447.5(FBN3):c.4618+13G>A	noncoding	Benign
19	8109627	T	C	T8109627C	FBN3	NM_032447.5(FBN3):c.4456+4A>G	noncoding	Benign
19	8109647	G	A	G8109647A	FBN3	NM_032447.5(FBN3):c.4440C>T:p.Ser1480=	coding	Benign
19	8109759	G	C	G8109759C	FBN3	NM_032447.5(FBN3):c.4334-6C>G	noncoding	Benign/Likely_benign
19	8109766	A	G	A8109766G	FBN3	NM_032447.5(FBN3):c.4334-13T>C	noncoding	Benign
19	8111125	C	T	C8111125T	FBN3	NM_032447.5(FBN3):c.4143G>A:p.Ala1381=	coding	Benign
19	8111161	G	A	G8111161A	FBN3	NM_032447.5(FBN3):c.4107C>T:p.Asn1369=	coding	Benign
19	8111202	C	T	C8111202T	FBN3	NM_032447.5(FBN3):c.4085-19G>A	noncoding	Benign
19	8111685	G	A	G8111685A	FBN3	NM_032447.5(FBN3):c.4047C>T:p.Cys1349=	coding	Benign
19	8111756	C	T	C8111756T	FBN3	NM_032447.5(FBN3):c.3976G>A:p.Val1326Ile	coding	Benign
19	8112006	C	G	C8112006G	FBN3	NM_032447.5(FBN3):c.3932G>C:p.Gly1311Ala	coding	Benign
19	8112035	C	T	C8112035T	FBN3	NM_032447.5(FBN3):c.3903G>A:p.Pro1301=	coding	Benign
19	8112053	G	A	G8112053A	FBN3	NM_032447.5(FBN3):c.3885C>T:p.Ala1295=	coding	Benign
19	8112061	T	C	T8112061C	FBN3	NM_032447.5(FBN3):c.3877A>G:p.Ser1293Gly	coding	Benign
19	8112063	T	C	T8112063C	FBN3	NM_032447.5(FBN3):c.3875A>G:p.Asp1292Gly	coding	Benign
19	8112113	A	G	A8112113G	FBN3	NM_032447.5(FBN3):c.3839-14T>C	noncoding	Benign
19	8116659	G	A	G8116659A	FBN3	NM_032447.5(FBN3):c.3712+15C>T	noncoding	Benign
19	8116664	G	A	G8116664A	FBN3	NM_032447.5(FBN3):c.3712+10C>T	noncoding	Benign
19	8116798	G	A	G8116798A	FBN3	NM_032447.5(FBN3):c.3588C>T:p.Asp1196=	coding	Benign
19	8117290	G	A	G8117290A	FBN3	NM_032447.5(FBN3):c.3465C>T:p.Asp1155=	coding	Benign
19	8117562	C	A	C8117562A	FBN3	NM_032447.5(FBN3):c.3365G>T:p.Gly1122Val	coding	Benign
19	8118987	G	A	G8118987A	FBN3	NM_032447.5(FBN3):c.3247C>T:p.Arg1083Trp	coding	Benign
19	8121245	G	A	G8121245A	FBN3	NM_032447.5(FBN3):c.3211+13C>T	noncoding	Benign
19	8121298	G	A	G8121298A	FBN3	NM_032447.5(FBN3):c.3171C>T:p.Pro1057=	coding	Benign
19	8121328	C	T	C8121328T	FBN3	NM_032447.5(FBN3):c.3141G>A:p.Thr1047=	coding	Benign
19	8121379	G	A	G8121379A	FBN3	NM_032447.5(FBN3):c.3090C>T:p.Asp1030=	coding	Benign
19	8123777	A	G	A8123777G	FBN3	NM_032447.5(FBN3):c.2956+7T>C	noncoding	Benign
19	8123928	C	T	C8123928T	FBN3	NM_032447.5(FBN3):c.2812G>A:p.Val938Ile	coding	Benign
19	8123936	C	T	C8123936T	FBN3	NM_032447.5(FBN3):c.2804G>A:p.Arg935Gln	coding	Benign
19	8126300	C	T	C8126300T	FBN3	NM_032447.5(FBN3):c.2602G>A:p.Asp868Asn	coding	Benign
19	8126354	C	T	C8126354T	FBN3	NM_032447.5(FBN3):c.2555-7G>A	noncoding	Benign
19	8126364	A	G	A8126364G	FBN3	NM_032447.5(FBN3):c.2555-17T>C	noncoding	Benign
19	8126517	G	A	G8126517A	FBN3	NM_032447.5(FBN3):c.2505C>T:p.Cys835=	coding	Benign
19	8126532	C	T	C8126532T	FBN3	NM_032447.5(FBN3):c.2490G>A:p.Leu830=	coding	Benign
19	8131245	C	T	C8131245T	FBN3	NM_032447.5(FBN3):c.2034G>A:p.Thr678=	coding	Benign
19	8131539	C	A	C8131539A	FBN3	NM_032447.5(FBN3):c.1990+15G>T	noncoding	Benign
19	8131560	C	T	C8131560T	FBN3	NM_032447.5(FBN3):c.1984G>A:p.Asp662Asn	coding	Benign
19	8131615	G	A	G8131615A	FBN3	NM_032447.5(FBN3):c.1929C>T:p.Cys643=	coding	Benign
19	8131624	G	C	G8131624C	FBN3	NM_032447.5(FBN3):c.1920C>G:p.Ser640=	coding	Benign
19	8131759	G	A	G8131759A	FBN3	NM_032447.5(FBN3):c.1785C>T:p.Arg595=	coding	Benign
19	8132981	C	T	C8132981T	FBN3	NM_032447.5(FBN3):c.1714+3G>A	noncoding	Benign
19	8133074	C	T	C8133074T	FBN3	NM_032447.5(FBN3):c.1624G>A:p.Val542Ile	coding	Benign
19	8133099	G	A	G8133099A	FBN3	NM_032447.5(FBN3):c.1599C>T:p.Asn533=	coding	Benign
19	8135977	G	A	G8135977A	FBN3	NM_032447.5(FBN3):c.1575C>T:p.Asp525=	coding	Benign
19	8135992	G	A	G8135992A	FBN3	NM_032447.5(FBN3):c.1560C>T:p.Phe520=	coding	Benign
19	8136091	G	A	G8136091A	FBN3	NM_032447.5(FBN3):c.1466-5C>T	noncoding	Benign
19	8136103	C	T	C8136103T	FBN3	NM_032447.5(FBN3):c.1466-17G>A	noncoding	Benign
19	8136237	C	T	C8136237T	FBN3	NM_032447.5(FBN3):c.1418G>A:p.Arg473Gln	coding	Benign
19	8136324	C	G	C8136324G	FBN3	NM_032447.5(FBN3):c.1346-15G>C	noncoding	Benign
19	8136382	G	T	G8136382T	FBN3	NM_032447.5(FBN3):c.1345+6C>A	noncoding	Benign
19	8136395	C	T	C8136395T	FBN3	NM_032447.5(FBN3):c.1338G>A:p.Glu446=	coding	Benign
19	8136414	G	A	G8136414A	FBN3	NM_032447.5(FBN3):c.1319C>T:p.Thr440Ile	coding	Benign
19	8138229	C	T	C8138229T	FBN3	NM_032447.5(FBN3):c.1113G>A:p.Met371Ile	coding	Benign
19	8138304	G	A	G8138304A	FBN3	NM_032447.5(FBN3):c.1038C>T:p.Cys346=	coding	Benign
19	8138444	G	A	G8138444A	FBN3	NM_032447.5(FBN3):c.986C>T:p.Pro329Leu	coding	Benign
19	8138506	G	A	G8138506A	FBN3	NM_032447.5(FBN3):c.924C>T:p.Leu308=	coding	Benign
19	8138582	G	A	G8138582A	FBN3	NM_032447.5(FBN3):c.866-18C>T	noncoding	Benign
19	8141705	C	G	C8141705G	FBN3	NM_032447.5(FBN3):c.865+12G>C	noncoding	Benign
19	8142141	C	T	C8142141T	FBN3	NM_032447.5(FBN3):c.542-4G>A	noncoding	Benign
19	8144862	G	A	G8144862A	FBN3	NM_032447.5(FBN3):c.541+15C>T	noncoding	Benign
19	8144866	A	G	A8144866G	FBN3	NM_032447.5(FBN3):c.541+11T>C	noncoding	Benign
19	8145932	C	G	C8145932G	FBN3	NM_032447.5(FBN3):c.356G>C:p.Gly119Ala	coding	Benign
19	8146113	C	T	C8146113T	FBN3	NM_032447.5(FBN3):c.349+14G>A	noncoding	Benign
19	8146114	G	A	G8146114A	FBN3	NM_032447.5(FBN3):c.349+13C>T	noncoding	Benign
19	8146121	G	A	G8146121A	FBN3	NM_032447.5(FBN3):c.349+6C>T	noncoding	Benign
19	8146241	G	A	G8146241A	FBN3	NM_032447.5(FBN3):c.251-16C>T	noncoding	Benign
19	8147345	G	A	G8147345A	FBN3	NM_032447.5(FBN3):c.136C>T:p.Arg46Trp	coding	Benign
19	8147379	G	A	G8147379A	FBN3	NM_032447.5(FBN3):c.102C>T:p.Asp34=	coding	Benign
19	8302274	C	T	C8302274T	CD320	NM_016579.4(CD320):c.*189G>A	noncoding	Benign
19	8302334	G	A	G8302334A	CD320	NM_016579.4(CD320):c.*129C>T	noncoding	Benign
19	8302380	G	C	G8302380C	CD320	NM_016579.4(CD320):c.*83C>G	noncoding	Benign
19	8302553	G	A	G8302553A	CD320	NM_016579.4(CD320):c.759C>T:p.Leu253=	coding	Benign/Likely_benign
19	8302641	G	C	G8302641C	CD320	NM_016579.4(CD320):c.707-36C>G	noncoding	Benign
19	8302998	G	A	G8302998A	CD320	NM_016579.4(CD320):c.503-18C>T	noncoding	Benign
19	8303028	C	A	C8303028A	CD320	NM_016579.4(CD320):c.503-48G>T	noncoding	Benign
19	8303737	C	T	C8303737T	CD320	NM_016579.4(CD320):c.502+118G>A	noncoding	Benign
19	8303862	G	A	G8303862A	CD320	NM_016579.4(CD320):c.495C>T:p.Leu165=	coding	Benign
19	8304337	G	C	G8304337C	CD320	NM_016579.4(CD320):c.269-249C>G	noncoding	Benign
19	8304381	T	C	T8304381C	CD320	NM_016579.4(CD320):c.269-293A>G	noncoding	Benign
19	8305167	G	A	G8305167A	CD320	NM_016579.4(CD320):c.143-11C>T	noncoding	Benign/Likely_benign
19	8305196	C	T	C8305196T	CD320	NM_016579.4(CD320):c.143-40G>A	noncoding	Benign
19	8307969	G	T	G8307969T	CD320	NM_016579.4(CD320):c.142+180C>A	noncoding	Benign
19	8307985	G	A	G8307985A	CD320	NM_016579.4(CD320):c.142+164C>T	noncoding	Benign
19	8308110	C	G	C8308110G	CD320	NM_016579.4(CD320):c.142+39G>C	noncoding	Benign
19	8308649	A	C	A8308649C	CD320	NR_135539.2(NDUFA7):n.688T>G	noncoding	Benign
19	8321172	G	C	G8321172C	RPS28	NM_005001.5(NDUFA7):c.51+136C>G	noncoding	Benign
19	8321175	T	G	T8321175G	RPS28	NM_005001.5(NDUFA7):c.51+133A>C	noncoding	Benign
19	8321422	G	A	G8321422A	RPS28	Single_allele	noncoding	Benign
19	8321483	C	T	C8321483T	RPS28	Single_allele	noncoding	Benign
19	8321778	T	C	T8321778C	RPS28	NM_001031.5(RPS28):c.87+75T>C	noncoding	Benign
19	8321817	G	A	G8321817A	RPS28	NM_001031.5(RPS28):c.87+114G>A	noncoding	Benign
19	8322114	T	C	T8322114C	RPS28	NM_001031.5(RPS28):c.*16+23T>C	noncoding	Benign
19	8322323	G	A	G8322323A	RPS28	NM_001031.5(RPS28):c.*68G>A	noncoding	Benign
19	8390114	T	G	T8390114G	RAB11B	NR_038237.1(RAB11B-AS1):n.578A>C	noncoding	Benign
19	8390427	G	A	G8390427A	RAB11B	NM_004218.4(RAB11B):c.11G>A:p.Arg4Gln	coding	Benign
19	8390428	G	A	G8390428A	RAB11B	NM_004218.4(RAB11B):c.12G>A:p.Arg4=	coding	Benign
19	8390463	C	T	C8390463T	RAB11B	NM_004218.4(RAB11B):c.40+7C>T	coding	Benign
19	8390469	G	T	G8390469T	RAB11B	NM_004218.4(RAB11B):c.40+13G>T	coding	Benign
19	8399769	G	A	G8399769A	RAB11B	NM_004218.4(RAB11B):c.41-94G>A	noncoding	Benign
19	8399856	C	T	C8399856T	RAB11B	NM_004218.4(RAB11B):c.41-7C>T	noncoding	Benign
19	8399857	G	A	G8399857A	RAB11B	NM_004218.4(RAB11B):c.41-6G>A	noncoding	Benign
19	8399909	G	A	G8399909A	RAB11B	NM_004218.4(RAB11B):c.87G>A:p.Ser29=	coding	Benign
19	8400199	G	A	G8400199A	RAB11B	NM_004218.4(RAB11B):c.236+141G>A	noncoding	Benign
19	8401907	G	C	G8401907C	RAB11B	NM_004218.4(RAB11B):c.237-179G>C	noncoding	Benign
19	8401908	G	A	G8401908A	RAB11B	NM_004218.4(RAB11B):c.237-178G>A	noncoding	Benign
19	8402289	C	T	C8402289T	RAB11B	NM_004218.4(RAB11B):c.430+10C>T	noncoding	Benign
19	8402351	T	C	T8402351C	RAB11B	NM_004218.4(RAB11B):c.430+72T>C	noncoding	Benign
19	8402477	T	C	T8402477C	RAB11B	NM_004218.4(RAB11B):c.431-8T>C	noncoding	Benign
19	8402571	C	T	C8402571T	RAB11B	NM_004218.4(RAB11B):c.511+6C>T	noncoding	Benign
19	8402572	G	A	G8402572A	RAB11B	NM_004218.4(RAB11B):c.511+7G>A	noncoding	Benign
19	8403267	C	T	C8403267T	RAB11B	NM_004218.4(RAB11B):c.512-146C>T	noncoding	Benign
19	8403405	C	T	C8403405T	RAB11B	NM_004218.4(RAB11B):c.512-8C>T	noncoding	Benign
19	8403426	C	T	C8403426T	RAB11B	NM_004218.4(RAB11B):c.525C>T:p.Ile175=	coding	Benign
19	8403453	C	T	C8403453T	RAB11B	NM_004218.4(RAB11B):c.552C>T:p.Arg184=	coding	Benign
19	8403465	C	T	C8403465T	RAB11B	NM_004218.4(RAB11B):c.564C>T:p.Asp188=	coding	Benign
19	8403474	G	A	G8403474A	RAB11B	NM_004218.4(RAB11B):c.573G>A:p.Pro191=	coding	Benign
19	8403601	C	T	C8403601T	RAB11B	NM_004218.4(RAB11B):c.*43C>T	noncoding	Benign
19	8521342	C	G	C8521342G	MYO1F	NM_012335.4(MYO1F):c.*186G>C	noncoding	Benign
19	8522311	C	T	C8522311T	MYO1F	NM_012335.4(MYO1F):c.3220+66G>A	noncoding	Benign
19	8522317	C	T	C8522317T	MYO1F	NM_012335.4(MYO1F):c.3220+60G>A	noncoding	Benign
19	8522824	C	A	C8522824A	MYO1F	NM_012335.4(MYO1F):c.2860G>T:p.Asp954Tyr	coding	Benign/Likely_benign
19	8522898	T	C	T8522898C	MYO1F	NM_012335.4(MYO1F):c.2855-69A>G	noncoding	Benign
19	8525286	T	G	T8525286G	MYO1F	NM_012335.4(MYO1F):c.2854+193A>C	noncoding	Benign
19	8526688	C	G	C8526688G	MYO1F	NM_012335.4(MYO1F):c.2622-87G>C	noncoding	Benign
19	8526902	C	G	C8526902G	MYO1F	NM_012335.4(MYO1F):c.2508G>C:p.Glu836Asp	coding	Benign
19	8527159	G	C	G8527159C	MYO1F	NM_012335.4(MYO1F):c.2474+179C>G	noncoding	Benign
19	8527323	A	G	A8527323G	MYO1F	NM_012335.4(MYO1F):c.2474+15T>C	noncoding	Benign
19	8530009	C	T	C8530009T	MYO1F	NM_012335.4(MYO1F):c.2328+187G>A	noncoding	Benign
19	8536085	G	A	G8536085A	MYO1F	NM_012335.4(MYO1F):c.2043+167C>T	noncoding	Benign
19	8536467	G	T	G8536467T	MYO1F	NM_012335.4(MYO1F):c.1898+32C>A	noncoding	Benign
19	8536473	G	A	G8536473A	MYO1F	NM_012335.4(MYO1F):c.1898+26C>T	noncoding	Benign
19	8536886	C	G	C8536886G	MYO1F	NM_012335.4(MYO1F):c.1799+63G>C	noncoding	Benign
19	8537075	G	A	G8537075A	MYO1F	NM_012335.4(MYO1F):c.1693-20C>T	noncoding	Benign
19	8537143	T	G	T8537143G	MYO1F	NM_012335.4(MYO1F):c.1693-88A>C	noncoding	Benign
19	8537207	G	T	G8537207T	MYO1F	NM_012335.4(MYO1F):c.1693-152C>A	noncoding	Benign
19	8539818	T	A	T8539818A	MYO1F	NM_012335.4(MYO1F):c.1692+129A>T	noncoding	Benign
19	8539856	G	A	G8539856A	MYO1F	NM_012335.4(MYO1F):c.1692+91C>T	noncoding	Benign
19	8539927	G	A	G8539927A	MYO1F	NM_012335.4(MYO1F):c.1692+20C>T	noncoding	Benign
19	8539933	C	T	C8539933T	MYO1F	NM_012335.4(MYO1F):c.1692+14G>A	noncoding	Benign
19	8540073	T	C	T8540073C	MYO1F	NM_012335.4(MYO1F):c.1611-45A>G	noncoding	Benign
19	8540114	C	T	C8540114T	MYO1F	NM_012335.4(MYO1F):c.1611-86G>A	noncoding	Benign
19	8540193	T	C	T8540193C	MYO1F	NM_012335.4(MYO1F):c.1611-165A>G	noncoding	Benign
19	8541797	C	T	C8541797T	MYO1F	NM_012335.4(MYO1F):c.1610+109G>A	noncoding	Benign
19	8542050	C	T	C8542050T	MYO1F	NM_012335.4(MYO1F):c.1525-59G>A	noncoding	Benign
19	8542144	A	G	A8542144G	MYO1F	NM_012335.4(MYO1F):c.1525-153T>C	noncoding	Benign
19	8544542	G	A	G8544542A	MYO1F	NM_012335.4(MYO1F):c.1357-78C>T	noncoding	Benign
19	8544628	C	T	C8544628T	MYO1F	NM_012335.4(MYO1F):c.1357-164G>A	noncoding	Benign
19	8545429	A	G	A8545429G	MYO1F	NM_012335.4(MYO1F):c.1356+221T>C	noncoding	Benign
19	8545511	T	G	T8545511G	MYO1F	NM_012335.4(MYO1F):c.1356+139A>C	noncoding	Benign
19	8545512	A	C	A8545512C	MYO1F	NM_012335.4(MYO1F):c.1356+138T>G	noncoding	Benign
19	8545976	A	G	A8545976G	MYO1F	NM_012335.4(MYO1F):c.1270-240T>C	noncoding	Benign
19	8546010	C	T	C8546010T	MYO1F	NM_012335.4(MYO1F):c.1270-274G>A	noncoding	Benign
19	8547892	T	C	T8547892C	MYO1F	NM_012335.4(MYO1F):c.1269+144A>G	noncoding	Benign
19	8547988	C	T	C8547988T	MYO1F	NM_012335.4(MYO1F):c.1269+48G>A	noncoding	Benign
19	8547997	A	C	A8547997C	MYO1F	NM_012335.4(MYO1F):c.1269+39T>G	noncoding	Benign
19	8548334	G	C	G8548334C	MYO1F	NM_012335.4(MYO1F):c.1102-17C>G	noncoding	Benign
19	8550238	G	A	G8550238A	MYO1F	NM_012335.4(MYO1F):c.1023C>T:p.Leu341=	coding	Benign
19	8550384	T	C	T8550384C	MYO1F	NM_012335.4(MYO1F):c.905-28A>G	noncoding	Benign
19	8550705	A	G	A8550705G	MYO1F	NM_012335.4(MYO1F):c.772-11T>C	noncoding	Benign
19	8550725	G	A	G8550725A	MYO1F	NM_012335.4(MYO1F):c.772-31C>T	noncoding	Benign
19	8550784	C	T	C8550784T	MYO1F	NM_012335.4(MYO1F):c.772-90G>A	noncoding	Benign
19	8551496	C	T	C8551496T	MYO1F	NM_012335.4(MYO1F):c.771+244G>A	noncoding	Benign
19	8551499	A	G	A8551499G	MYO1F	NM_012335.4(MYO1F):c.771+241T>C	noncoding	Benign
19	8551508	C	T	C8551508T	MYO1F	NM_012335.4(MYO1F):c.771+232G>A	noncoding	Benign
19	8551711	C	T	C8551711T	MYO1F	NM_012335.4(MYO1F):c.771+29G>A	noncoding	Benign
19	8551929	A	T	A8551929T	MYO1F	NM_012335.4(MYO1F):c.637-55T>A	noncoding	Benign
19	8552222	G	A	G8552222A	MYO1F	NM_012335.4(MYO1F):c.505-58C>T	noncoding	Benign
19	8553226	G	A	G8553226A	MYO1F	NM_012335.4(MYO1F):c.417C>T:p.His139=	coding	Benign
19	8553325	T	C	T8553325C	MYO1F	NM_012335.4(MYO1F):c.414+25A>G	noncoding	Benign
19	8553540	C	T	C8553540T	MYO1F	NM_012335.4(MYO1F):c.327-103G>A	noncoding	Benign
19	8554458	C	G	C8554458G	MYO1F	NM_012335.4(MYO1F):c.326+19G>C	noncoding	Benign
19	8555842	C	T	C8555842T	MYO1F	NM_012335.4(MYO1F):c.4-46G>A	noncoding	Benign
19	8555939	A	G	A8555939G	MYO1F	NM_012335.4(MYO1F):c.4-143T>C	noncoding	Benign
19	8555977	C	G	C8555977G	MYO1F	NM_012335.4(MYO1F):c.4-181G>C	noncoding	Benign
19	8577276	T	C	T8577276C	MYO1F	NM_012335.4(MYO1F):c.3+31A>G	noncoding	Benign
19	8577668	G	C	G8577668C	MYO1F	Single_allele	noncoding	Benign
19	8584643	G	A	G8584643A	ADAMTS10	NM_030957.4(ADAMTS10):c.3202+252C>T	noncoding	Benign
19	8585192	G	C	G8585192C	ADAMTS10	NM_030957.4(ADAMTS10):c.2982C>G:p.Thr994=	coding	Benign
19	8585767	A	G	A8585767G	ADAMTS10	NM_030957.4(ADAMTS10):c.2661-107T>C	noncoding	Benign
19	8585783	G	A	G8585783A	ADAMTS10	NM_030957.4(ADAMTS10):c.2661-123C>T	noncoding	Benign
19	8585952	A	G	A8585952G	ADAMTS10	NM_030957.4(ADAMTS10):c.2660+170T>C	noncoding	Benign
19	8586554	T	C	T8586554C	ADAMTS10	NM_030957.4(ADAMTS10):c.2403+4A>G	noncoding	Benign/Likely_benign
19	8586923	C	T	C8586923T	ADAMTS10	NM_030957.4(ADAMTS10):c.2159-27G>A	noncoding	Benign
19	8586963	C	T	C8586963T	ADAMTS10	NM_030957.4(ADAMTS10):c.2159-67G>A	noncoding	Benign
19	8589222	G	A	G8589222A	ADAMTS10	NM_030957.4(ADAMTS10):c.2158+20C>T	noncoding	Benign
19	8589693	G	A	G8589693A	ADAMTS10	NM_030957.4(ADAMTS10):c.1901-108C>T	noncoding	Benign
19	8590032	G	A	G8590032A	ADAMTS10	NM_030957.4(ADAMTS10):c.1798-41C>T	noncoding	Benign
19	8592114	G	A	G8592114A	ADAMTS10	NM_030957.4(ADAMTS10):c.1588-11C>T	coding	Benign/Likely_benign
19	8592141	G	A	G8592141A	ADAMTS10	NM_030957.4(ADAMTS10):c.1588-38C>T	coding	Benign
19	8592198	T	C	T8592198C	ADAMTS10	NM_030957.4(ADAMTS10):c.1588-95A>G	noncoding	Benign
19	8592282	C	A	C8592282A	ADAMTS10	NM_030957.4(ADAMTS10):c.1588-179G>T	noncoding	Benign
19	8592355	C	T	C8592355T	ADAMTS10	NM_030957.4(ADAMTS10):c.1588-252G>A	noncoding	Benign
19	8592656	T	C	T8592656C	ADAMTS10	NM_030957.4(ADAMTS10):c.1587+107A>G	noncoding	Benign
19	8592744	G	A	G8592744A	ADAMTS10	NM_030957.4(ADAMTS10):c.1587+19C>T	noncoding	Benign
19	8592753	C	T	C8592753T	ADAMTS10	NM_030957.4(ADAMTS10):c.1587+10G>A	noncoding	Benign
19	8592851	C	T	C8592851T	ADAMTS10	NM_030957.4(ADAMTS10):c.1499G>A:p.Trp500Ter	coding	Pathogenic
19	8592987	G	C	G8592987C	ADAMTS10	NM_030957.4(ADAMTS10):c.1480-117C>G	noncoding	Benign
19	8596006	G	A	G8596006A	ADAMTS10	NM_030957.4(ADAMTS10):c.1337+67C>T	noncoding	Benign
19	8603705	C	T	C8603705T	ADAMTS10	NM_030957.4(ADAMTS10):c.592+23G>A	noncoding	Benign
19	8604982	T	G	T8604982G	ADAMTS10	NM_030957.4(ADAMTS10):c.435+30A>C	noncoding	Benign
19	8605202	G	A	G8605202A	ADAMTS10	NM_030957.4(ADAMTS10):c.245C>T:p.Ser82Leu	coding	Benign
19	8697493	G	C	G8697493C	ACTL9	NM_178525.5(ACTL9):c.1209C>G:p.Tyr403Ter	coding	Pathogenic
19	8697564	C	A	C8697564A	ACTL9	NM_178525.5(ACTL9):c.1138G>T:p.Val380Leu	coding	Pathogenic
19	8697668	G	A	G8697668A	ACTL9	NM_178525.5(ACTL9):c.1034C>T:p.Ser345Leu	coding	Pathogenic
19	9854147	A	G	A9854147G	OLFM2	NM_058164.4(OLFM2):c.*39T>C	noncoding	Benign
19	9854270	G	A	G9854270A	OLFM2	NM_058164.4(OLFM2):c.1281C>T:p.Arg427=	coding	Benign
19	9855016	T	C	T9855016C	OLFM2	NM_058164.4(OLFM2):c.688-153A>G	noncoding	Benign
19	9856753	C	T	C9856753T	OLFM2	NM_058164.4(OLFM2):c.687+54G>A	noncoding	Benign
19	9857463	G	A	G9857463A	OLFM2	NM_058164.4(OLFM2):c.380C>T:p.Thr127Met	coding	Benign
19	9857758	C	T	C9857758T	OLFM2	NM_058164.4(OLFM2):c.317G>A:p.Arg106Gln	coding	Benign
19	9860960	T	C	T9860960C	OLFM2	NM_058164.4(OLFM2):c.64-166A>G	noncoding	Benign
19	9936480	C	A	C9936480A	OLFM2	NM_058164.4(OLFM2):c.-114G>T	noncoding	Benign
19	10115580	A	G	A10115580G	EIF3G	NM_003755.5(EIF3G):c.846T>C:p.Phe282=	coding	Benign
19	10133688	C	T	C10133688T	DNMT1	NM_001130823.3(DNMT1):c.4878G>A:p.Glu1626=	coding	Benign
19	10133878	G	A	G10133878A	DNMT1	NM_001130823.3(DNMT1):c.4865-177C>T	noncoding	Benign
19	10134105	G	A	G10134105A	DNMT1	NM_001130823.3(DNMT1):c.4864+112C>T	noncoding	Benign
19	10134401	A	T	A10134401T	DNMT1	NM_001130823.3(DNMT1):c.4774-94T>A	noncoding	Benign
19	10136288	C	G	C10136288G	DNMT1	NM_001130823.3(DNMT1):c.4490-1G>C	coding	Pathogenic
19	10137594	G	C	G10137594C	DNMT1	NM_001130823.3(DNMT1):c.4293+238C>G	noncoding	Benign
19	10138213	G	A	G10138213A	DNMT1	NM_001130823.3(DNMT1):c.4116-204C>T	noncoding	Benign
19	10142151	G	A	G10142151A	DNMT1	NM_001130823.3(DNMT1):c.3186C>T:p.Asp1062=	coding	Benign/Likely_benign
19	10146736	T	C	T10146736C	DNMT1	NM_001130823.3(DNMT1):c.2721-212A>G	noncoding	Benign
19	10148911	G	A	G10148911A	DNMT1	NM_001130823.3(DNMT1):c.2693C>T:p.Thr898Ile	coding	Benign/Likely_benign
19	10149672	C	T	C10149672T	DNMT1	NM_001130823.3(DNMT1):c.2382-15G>A	noncoding	Benign/Likely_benign
19	10149673	G	C	G10149673C	DNMT1	NM_001130823.3(DNMT1):c.2382-16C>G	noncoding	Benign
19	10150193	T	C	T10150193C	DNMT1	NM_001130823.3(DNMT1):c.2266-225A>G	noncoding	Benign
19	10154274	C	T	C10154274T	DNMT1	NM_001130823.3(DNMT1):c.2019+19G>A	noncoding	Benign
19	10154380	G	A	G10154380A	DNMT1	NM_001130823.3(DNMT1):c.1932C>T:p.Phe644=	coding	Benign/Likely_benign
19	10156335	C	A	C10156335A	DNMT1	NM_001130823.3(DNMT1):c.1399+56G>T	noncoding	Benign
19	10156576	G	T	G10156576T	DNMT1	NM_001130823.3(DNMT1):c.1281-67C>A	noncoding	Benign
19	10156590	C	A	C10156590A	DNMT1	NM_001130823.3(DNMT1):c.1281-81G>T	noncoding	Benign
19	10159644	G	C	G10159644C	DNMT1	NM_001130823.3(DNMT1):c.1280+14C>G	noncoding	Benign/Likely_benign
19	10160358	C	G	C10160358G	DNMT1	NM_001130823.3(DNMT1):c.1043+26G>C	noncoding	Benign
19	10160465	A	C	A10160465C	DNMT1	NM_001130823.3(DNMT1):c.1009-47T>G	noncoding	Benign
19	10162645	G	A	G10162645A	DNMT1	NM_001130823.3(DNMT1):c.1008+22C>T	noncoding	Benign
19	10162649	G	A	G10162649A	DNMT1	NM_001130823.3(DNMT1):c.1008+18C>T	noncoding	Benign
19	10168319	G	A	G10168319A	DNMT1	NM_001130823.3(DNMT1):c.803+11C>T	noncoding	Benign/Likely_benign
19	10173072	G	T	G10173072T	DNMT1	NM_001130823.3(DNMT1):c.768+18C>A	noncoding	Benign/Likely_benign
19	10173127	C	T	C10173127T	DNMT1	NM_001130823.3(DNMT1):c.731G>A:p.Gly244Glu	coding	Benign/Likely_benign
19	10173256	C	T	C10173256T	DNMT1	NM_001130823.3(DNMT1):c.684-82G>A	noncoding	Benign
19	10173855	T	G	T10173855G	DNMT1	NM_001130823.3(DNMT1):c.683+16A>C	noncoding	Benign/Likely_benign
19	10182080	G	A	G10182080A	DNMT1	NM_001130823.3(DNMT1):c.81-3C>T	noncoding	Benign/Likely_benign
19	10182225	C	T	C10182225T	DNMT1	NM_001130823.3(DNMT1):c.81-148G>A	noncoding	Benign
19	10182348	C	G	C10182348G	DNMT1	NM_001130823.3(DNMT1):c.81-271G>C	noncoding	Benign
19	10194606	G	A	G10194606A	DNMT1	NM_001130823.3(DNMT1):c.80+214C>T	noncoding	Benign
19	10223767	A	C	A10223767C	S1PR2	NM_004230.4(S1PR2):c.*77T>G	noncoding	Benign
19	10224189	T	C	T10224189C	S1PR2	NM_004230.4(S1PR2):c.717A>G:p.Leu239=	coding	Benign/Likely_benign
19	10224426	C	T	C10224426T	S1PR2	NM_004230.4(S1PR2):c.480G>A:p.Leu160=	coding	Benign/Likely_benign
19	10224429	C	T	C10224429T	S1PR2	NM_004230.4(S1PR2):c.477G>A:p.Ser159=	coding	Benign/Likely_benign
19	10225104	C	T	C10225104T	S1PR2	NM_004230.4(S1PR2):c.-42-157G>A	noncoding	Benign
19	10225247	A	G	A10225247G	S1PR2	NM_004230.4(S1PR2):c.-42-300T>C	noncoding	Benign
19	10310306	G	C	G10310306C	FDX2	NM_001397406.1(FDX2):c.*180C>G	noncoding	Benign
19	10310597	C	T	C10310597T	FDX2	NM_001397406.1(FDX2):c.441G>A:p.Ser147=	coding	Benign/Likely_benign
19	10310709	G	C	G10310709C	FDX2	NM_001397406.1(FDX2):c.396-67C>G	noncoding	Benign
19	10315310	A	G	A10315310G	FDX2	NM_001397406.1(FDX2):c.307+76T>C	noncoding	Benign
19	10315319	G	T	G10315319T	FDX2	NM_001397406.1(FDX2):c.307+67C>A	noncoding	Benign
19	10315348	T	G	T10315348G	FDX2	NM_001397406.1(FDX2):c.307+38A>C	noncoding	Benign
19	10315914	C	G	C10315914G	FDX2	NM_001397406.1(FDX2):c.83G>C:p.Gly28Ala	coding	Benign
19	10321123	G	T	G10321123T	RAVER1	NM_133452.3(RAVER1):c.1398C>A:p.Pro466=	coding	Benign
19	10353085	A	G	A10353085G	TYK2	NM_003331.5(TYK2):c.3041T>C:p.Leu1014Pro	coding	Pathogenic
19	10353334	G	T	G10353334T	TYK2	NM_003331.5(TYK2):c.3027+194C>A	noncoding	Benign
19	10356486	C	A	C10356486A	TYK2	NM_003331.5(TYK2):c.2617+82G>T	noncoding	Benign
19	10356612	G	C	G10356612C	TYK2	NM_003331.5(TYK2):c.2573C>G:p.Ser858Ter	coding	Pathogenic
19	10356872	G	A	G10356872A	TYK2	NM_003331.5(TYK2):c.2467-154C>T	noncoding	Benign
19	10357835	C	T	C10357835T	TYK2	NM_003331.5(TYK2):c.2395G>A:p.Gly799Arg	coding	Pathogenic
19	10357837	C	T	C10357837T	TYK2	NM_003331.5(TYK2):c.2393G>A:p.Trp798Ter	coding	Pathogenic
19	10357987	C	G	C10357987G	TYK2	NM_003331.5(TYK2):c.2311+16G>C	noncoding	Benign
19	10358045	G	C	G10358045C	TYK2	NM_003331.5(TYK2):c.2269C>G:p.Leu757Val	coding	Pathogenic
19	10361301	G	A	G10361301A	TYK2	NM_003331.5(TYK2):c.2047+210C>T	noncoding	Benign
19	10361613	C	T	C10361613T	TYK2	NM_003331.5(TYK2):c.1960-15G>A	noncoding	Benign/Likely_benign
19	10362200	T	C	T10362200C	TYK2	NM_003331.5(TYK2):c.1670-19A>G	noncoding	Benign/Likely_benign
19	10364625	G	A	G10364625A	TYK2	NM_003331.5(TYK2):c.1356C>T:p.His452=	coding	Benign
19	10364728	G	T	G10364728T	TYK2	NM_003331.5(TYK2):c.1253C>A:p.Ser418Ter	coding	Pathogenic
19	10365295	T	A	T10365295A	TYK2	NM_003331.5(TYK2):c.1011+222A>T	noncoding	Benign
19	10366391	A	G	A10366391G	TYK2	NM_003331.5(TYK2):c.629+26T>C	noncoding	Benign
19	10366396	C	T	C10366396T	TYK2	NM_003331.5(TYK2):c.629+21G>A	noncoding	Benign
19	10366622	C	A	C10366622A	TYK2	NM_003331.5(TYK2):c.466-42G>T	noncoding	Benign
19	10368007	C	A	C10368007A	TYK2	NM_003331.5(TYK2):c.465+48G>T	noncoding	Benign
19	10368219	C	T	C10368219T	TYK2	NM_003331.5(TYK2):c.318-17G>A	noncoding	Benign
19	10368550	G	A	G10368550A	TYK2	NM_003331.5(TYK2):c.194-132C>T	noncoding	Benign
19	10378363	A	G	A10378363G	TYK2	NM_003331.5(TYK2):c.44T>C:p.Val15Ala	coding	Benign/Likely_benign
19	10499522	C	T	C10499522T	KEAP1	NM_203500.2(KEAP1):c.512G>A:p.Cys171Tyr	coding	Pathogenic
19	10548907	A	G	A10548907G	ATG4D	NM_032885.6(ATG4D):c.839A>G:p.Tyr280Cys	coding	Pathogenic
19	10548983	C	T	C10548983T	ATG4D	NM_032885.6(ATG4D):c.915C>T:p.Pro305=	coding	Benign
19	10552065	G	A	G10552065A	ATG4D	NM_032885.6(ATG4D):c.1066G>A:p.Asp356Asn	coding	Pathogenic
19	10718631	C	G	C10718631G	DNM2	NM_001005361.3(DNM2):c.161+228C>G	noncoding	Benign
19	10772559	G	A	G10772559A	DNM2	NM_001005361.3(DNM2):c.316G>A:p.Asp106Asn	coding	Benign/Likely_benign
19	10775923	G	T	G10775923T	DNM2	NM_001005361.3(DNM2):c.589+17G>T	noncoding	Benign/Likely_benign
19	10797318	G	C	G10797318C	DNM2	NM_001005361.3(DNM2):c.1197-62G>C	noncoding	Benign
19	10802370	T	C	T10802370C	DNM2	NM_001005361.3(DNM2):c.1493+12T>C	noncoding	Benign
19	10820106	C	A	C10820106A	DNM2	NM_001005361.3(DNM2):c.1781+17C>A	noncoding	Benign/Likely_benign
19	10825310	G	A	G10825310A	DNM2	NM_001005361.3(DNM2):c.2058+89G>A	noncoding	Benign
19	10829016	T	G	T10829016G	DNM2	NM_001005361.3(DNM2):c.2059-20T>G	coding	Benign
19	10830042	A	G	A10830042G	DNM2	NM_001005361.3(DNM2):c.2292-85A>G	noncoding	Benign
19	10961203	C	T	C10961203T	SMARCA4	NM_003072.5(SMARCA4):c.-32+29C>T	noncoding	Benign
19	10984391	C	T	C10984391T	SMARCA4	NM_003072.5(SMARCA4):c.222+18C>T	noncoding	Benign/Likely_benign
19	10984392	G	A	G10984392A	SMARCA4	NM_003072.5(SMARCA4):c.222+19G>A	noncoding	Benign
19	10985308	C	T	C10985308T	SMARCA4	NM_003072.5(SMARCA4):c.258C>T:p.Asp86=	coding	Benign/Likely_benign
19	10985393	C	T	C10985393T	SMARCA4	NM_003072.5(SMARCA4):c.343C>T:p.Gln115Ter	coding	Pathogenic
19	10985416	G	A	G10985416A	SMARCA4	NM_003072.5(SMARCA4):c.355+11G>A	noncoding	Benign
19	10986323	C	T	C10986323T	SMARCA4	NM_003072.5(SMARCA4):c.490C>T:p.Gln164Ter	coding	Pathogenic
19	10986394	C	G	C10986394G	SMARCA4	NM_003072.5(SMARCA4):c.561C>G:p.Tyr187Ter	coding	Pathogenic
19	10987033	C	T	C10987033T	SMARCA4	NM_003072.5(SMARCA4):c.859+30C>T	noncoding	Benign
19	10987769	C	T	C10987769T	SMARCA4	NM_003072.5(SMARCA4):c.963C>T:p.Ala321=	coding	Benign/Likely_benign
19	10987778	C	T	C10987778T	SMARCA4	NM_003072.5(SMARCA4):c.972C>T:p.Pro324=	coding	Benign/Likely_benign
19	10987850	G	A	G10987850A	SMARCA4	NM_003072.5(SMARCA4):c.1044G>A:p.Lys348=	coding	Benign/Likely_benign
19	10989311	T	C	T10989311C	SMARCA4	NM_003072.5(SMARCA4):c.1119-6T>C	noncoding	Benign/Likely_benign
19	10989353	T	G	T10989353G	SMARCA4	NM_003072.5(SMARCA4):c.1155T>G:p.Leu385=	coding	Benign/Likely_benign
19	10989434	C	T	C10989434T	SMARCA4	NM_003072.5(SMARCA4):c.1236C>T:p.Phe412=	coding	Benign/Likely_benign
19	10991282	C	T	C10991282T	SMARCA4	NM_003072.5(SMARCA4):c.1378C>T:p.Gln460Ter	coding	Pathogenic
19	10991466	T	C	T10991466C	SMARCA4	NM_003072.5(SMARCA4):c.1419+143T>C	noncoding	Benign
19	10995015	T	A	T10995015A	SMARCA4	NM_003072.5(SMARCA4):c.1593+14T>A	noncoding	Benign/Likely_benign
19	10995344	G	A	G10995344A	SMARCA4	NM_003072.5(SMARCA4):c.1593+343G>A	noncoding	Benign
19	10995924	C	T	C10995924T	SMARCA4	NM_003072.5(SMARCA4):c.1594-289C>T	noncoding	Benign
19	10996205	T	C	T10996205C	SMARCA4	NM_003072.5(SMARCA4):c.1594-8T>C	noncoding	Benign/Likely_benign
19	10996409	G	A	G10996409A	SMARCA4	NM_003072.5(SMARCA4):c.1761+29G>A	noncoding	Benign
19	11002819	A	G	A11002819G	SMARCA4	NM_003072.5(SMARCA4):c.1813-210A>G	noncoding	Benign
19	11003355	G	A	G11003355A	SMARCA4	NM_003072.5(SMARCA4):c.1959G>A:p.Pro653=	coding	Benign/Likely_benign
19	11003364	T	C	T11003364C	SMARCA4	NM_003072.5(SMARCA4):c.1968T>C:p.Asp656=	coding	Benign/Likely_benign
19	11003676	A	G	A11003676G	SMARCA4	NM_003072.5(SMARCA4):c.2001+279A>G	noncoding	Benign
19	11007883	T	C	T11007883C	SMARCA4	NM_003072.5(SMARCA4):c.2002-19T>C	noncoding	Benign/Likely_benign
19	11007890	G	A	G11007890A	SMARCA4	NM_003072.5(SMARCA4):c.2002-12G>A	noncoding	Benign/Likely_benign
19	11007949	C	T	C11007949T	SMARCA4	NM_003072.5(SMARCA4):c.2049C>T:p.Pro683=	coding	Benign/Likely_benign
19	11008009	G	T	G11008009T	SMARCA4	NM_003072.5(SMARCA4):c.2109G>T:p.Ala703=	coding	Benign/Likely_benign
19	11008036	G	A	G11008036A	SMARCA4	NM_003072.5(SMARCA4):c.2123+13G>A	noncoding	Benign
19	11010406	G	T	G11010406T	SMARCA4	NM_003072.5(SMARCA4):c.2149G>T:p.Glu717Ter	coding	Pathogenic
19	11010413	G	A	G11010413A	SMARCA4	NM_003072.5(SMARCA4):c.2156G>A:p.Gly719Asp	coding	Pathogenic
19	11012932	C	G	C11012932G	SMARCA4	NM_003072.5(SMARCA4):c.2275-17C>G	noncoding	Benign
19	11013029	G	A	G11013029A	SMARCA4	NM_003072.5(SMARCA4):c.2355G>A:p.Lys785=	coding	Benign/Likely_benign
19	11013077	C	T	C11013077T	SMARCA4	NM_003072.5(SMARCA4):c.2403C>T:p.Arg801=	coding	Benign/Likely_benign
19	11013419	C	G	C11013419G	SMARCA4	NM_003072.5(SMARCA4):c.2438+307C>G	noncoding	Benign
19	11018753	C	G	C11018753G	SMARCA4	NM_003072.5(SMARCA4):c.2439-204C>G	noncoding	Benign
19	11018993	G	T	G11018993T	SMARCA4	NM_003072.5(SMARCA4):c.2475G>T:p.Trp825Cys	coding	Pathogenic
19	11019519	G	A	G11019519A	SMARCA4	NM_003072.5(SMARCA4):c.2506-72G>A	noncoding	Benign
19	11019617	T	C	T11019617C	SMARCA4	NM_003072.5(SMARCA4):c.2532T>C:p.Phe844=	coding	Benign/Likely_benign
19	11019659	G	A	G11019659A	SMARCA4	NM_003072.5(SMARCA4):c.2574G>A:p.Thr858=	coding	Benign/Likely_benign
19	11021404	G	A	G11021404A	SMARCA4	NM_003072.5(SMARCA4):c.2617-321G>A	noncoding	Benign
19	11021639	G	A	G11021639A	SMARCA4	NM_003072.5(SMARCA4):c.2617-86G>A	noncoding	Benign
19	11021791	C	T	C11021791T	SMARCA4	NM_003072.5(SMARCA4):c.2683C>T:p.Gln895Ter	coding	Pathogenic
19	11021916	C	T	C11021916T	SMARCA4	NM_003072.5(SMARCA4):c.2808C>T:p.Cys936=	coding	Benign/Likely_benign
19	11021933	G	A	G11021933A	SMARCA4	NM_003072.5(SMARCA4):c.2825G>A:p.Trp942Ter	coding	Pathogenic
19	11021934	G	A	G11021934A	SMARCA4	NM_003072.5(SMARCA4):c.2826G>A:p.Trp942Ter	coding	Pathogenic
19	11021961	G	T	G11021961T	SMARCA4	NM_003072.5(SMARCA4):c.2853G>T:p.Gly951=	coding	Benign/Likely_benign
19	11023504	T	C	T11023504C	SMARCA4	NM_003072.5(SMARCA4):c.2860-14T>C	noncoding	Benign
19	11024018	T	C	T11024018C	SMARCA4	NM_003072.5(SMARCA4):c.2974-313T>C	noncoding	Benign
19	11024367	C	T	C11024367T	SMARCA4	NM_003072.5(SMARCA4):c.3010C>T:p.Gln1004Ter	coding	Pathogenic
19	11024370	C	T	C11024370T	SMARCA4	NM_003072.5(SMARCA4):c.3013C>T:p.Arg1005Ter	coding	Pathogenic
19	11025330	A	C	A11025330C	SMARCA4	NM_003072.5(SMARCA4):c.3082-92A>C	noncoding	Benign
19	11025467	C	T	C11025467T	SMARCA4	NM_003072.5(SMARCA4):c.3127C>T:p.Arg1043Trp	coding	Pathogenic/Likely_pathogenic
19	11027550	T	C	T11027550C	SMARCA4	NM_003072.5(SMARCA4):c.3216-234T>C	noncoding	Benign
19	11027796	C	G	C11027796G	SMARCA4	NM_003072.5(SMARCA4):c.3228C>G:p.Tyr1076Ter	coding	Pathogenic
19	11027797	C	T	C11027797T	SMARCA4	NM_003072.5(SMARCA4):c.3229C>T:p.Arg1077Ter	coding	Pathogenic/Likely_pathogenic
19	11027845	C	T	C11027845T	SMARCA4	NM_003072.5(SMARCA4):c.3277C>T:p.Arg1093Ter	coding	Pathogenic
19	11030782	C	T	C11030782T	SMARCA4	NM_003072.5(SMARCA4):c.3435C>T:p.Pro1145=	coding	Benign/Likely_benign
19	11030830	C	T	C11030830T	SMARCA4	NM_003072.5(SMARCA4):c.3483C>T:p.Leu1161=	coding	Benign/Likely_benign
19	11032960	G	A	G11032960A	SMARCA4	NM_003072.5(SMARCA4):c.3547-330G>A	noncoding	Benign
19	11032986	G	A	G11032986A	SMARCA4	NM_003072.5(SMARCA4):c.3547-304G>A	noncoding	Benign
19	11033011	C	T	C11033011T	SMARCA4	NM_003072.5(SMARCA4):c.3547-279C>T	noncoding	Benign
19	11033490	C	T	C11033490T	SMARCA4	NM_003072.5(SMARCA4):c.3747C>T:p.Ala1249=	coding	Benign/Likely_benign
19	11034152	C	T	C11034152T	SMARCA4	NM_003072.5(SMARCA4):c.3903C>T:p.Thr1301=	coding	Benign/Likely_benign
19	11034159	C	T	C11034159T	SMARCA4	NM_003072.5(SMARCA4):c.3910C>T:p.Gln1304Ter	coding	Pathogenic
19	11034167	C	T	C11034167T	SMARCA4	NM_003072.5(SMARCA4):c.3918C>T:p.Ile1306=	coding	Benign/Likely_benign
19	11034207	G	A	G11034207A	SMARCA4	NM_003072.5(SMARCA4):c.3951+7G>A	noncoding	Benign/Likely_benign
19	11034894	G	A	G11034894A	SMARCA4	NM_003072.5(SMARCA4):c.3952-20G>A	noncoding	Benign
19	11035000	G	A	G11035000A	SMARCA4	NM_003072.5(SMARCA4):c.4038G>A:p.Trp1346Ter	coding	Pathogenic
19	11035039	T	A	T11035039A	SMARCA4	NM_003072.5(SMARCA4):c.4077T>A:p.Cys1359Ter	coding	Pathogenic
19	11035141	T	C	T11035141C	SMARCA4	NM_003072.5(SMARCA4):c.4170+9T>C	noncoding	Benign/Likely_benign
19	11035148	G	A	G11035148A	SMARCA4	NM_003072.5(SMARCA4):c.4170+16G>A	noncoding	Benign/Likely_benign
19	11035149	C	T	C11035149T	SMARCA4	NM_003072.5(SMARCA4):c.4170+17C>T	noncoding	Benign/Likely_benign
19	11041318	G	A	G11041318A	SMARCA4	NM_003072.5(SMARCA4):c.4182G>A:p.Glu1394=	coding	Benign/Likely_benign
19	11041438	C	T	C11041438T	SMARCA4	NM_003072.5(SMARCA4):c.4302C>T:p.Asp1434=	coding	Benign/Likely_benign
19	11041480	C	T	C11041480T	SMARCA4	NM_003072.5(SMARCA4):c.4344C>T:p.Ala1448=	coding	Benign/Likely_benign
19	11052925	G	T	G11052925T	SMARCA4	NM_003072.5(SMARCA4):c.4425-5330G>T	noncoding	Benign
19	11058307	G	T	G11058307T	SMARCA4	NM_003072.5(SMARCA4):c.4477G>T:p.Glu1493Ter	coding	Pathogenic
19	11058324	C	G	C11058324G	SMARCA4	NM_003072.5(SMARCA4):c.4494C>G:p.Tyr1498Ter	coding	Pathogenic
19	11058833	A	T	A11058833T	SMARCA4	NM_003072.5(SMARCA4):c.4579A>T:p.Lys1527Ter	coding	Pathogenic
19	11059901	G	T	G11059901T	SMARCA4	NM_003072.5(SMARCA4):c.4768+16G>T	noncoding	Benign/Likely_benign
19	11060020	G	A	G11060020A	SMARCA4	NM_003072.5(SMARCA4):c.4769-25G>A	noncoding	Benign
19	11060124	G	A	G11060124A	SMARCA4	NM_003072.5(SMARCA4):c.4848G>A:p.Pro1616=	coding	Benign/Likely_benign
19	11089413	C	T	C11089413T	LDLR	NM_000527.4(LDLR):c.-136C>T	noncoding	Pathogenic/Likely_pathogenic
19	11089565	G	A	G11089565A	LDLR	NM_000527.5(LDLR):c.17G>A:p.Trp6Ter	coding	Pathogenic
19	11089606	G	A	G11089606A	LDLR	NM_000527.5(LDLR):c.58G>A:p.Gly20Arg	coding	Benign
19	11089799	C	G	C11089799G	LDLR	NM_000527.5(LDLR):c.67+184C>G	noncoding	Benign
19	11090448	T	C	T11090448C	LDLR	NM_000527.5(LDLR):c.67+833T>C	noncoding	Benign
19	11100261	G	T	G11100261T	LDLR	NM_000527.5(LDLR):c.106G>T:p.Asp36Tyr	coding	Pathogenic
19	11100336	G	T	G11100336T	LDLR	NM_000527.5(LDLR):c.181G>T:p.Glu61Ter	coding	Pathogenic
19	11100346	G	A	G11100346A	LDLR	NM_000527.5(LDLR):c.190+1G>A	coding	Pathogenic/Likely_pathogenic
19	11102717	T	G	T11102717G	LDLR	NM_000527.5(LDLR):c.244T>G:p.Cys82Gly	coding	Pathogenic/Likely_pathogenic
19	11102740	C	G	C11102740G	LDLR	NM_000527.5(LDLR):c.267C>G:p.Cys89Trp	coding	Pathogenic/Likely_pathogenic
19	11102741	G	A	G11102741A	LDLR	NM_000527.5(LDLR):c.268G>A:p.Asp90Asn	coding	Pathogenic
19	11102783	T	C	T11102783C	LDLR	NM_000527.5(LDLR):c.310T>C:p.Cys104Arg	coding	Pathogenic/Likely_pathogenic
19	11105237	C	T	C11105237T	LDLR	NM_000527.5(LDLR):c.331C>T:p.Gln111Ter	coding	Pathogenic
19	11105284	C	A	C11105284A	LDLR	NM_000527.5(LDLR):c.378C>A:p.Phe126Leu	coding	Pathogenic
19	11105426	G	T	G11105426T	LDLR	NM_000527.5(LDLR):c.520G>T:p.Glu174Ter	coding	Pathogenic/Likely_pathogenic
19	11105516	T	C	T11105516C	LDLR	NM_000527.5(LDLR):c.610T>C:p.Cys204Arg	coding	Pathogenic/Likely_pathogenic
19	11105525	G	T	G11105525T	LDLR	NM_000527.5(LDLR):c.619G>T:p.Gly207Cys	coding	Pathogenic
19	11106597	T	A	T11106597A	LDLR	NM_000527.5(LDLR):c.727T>A:p.Cys243Ser	coding	Pathogenic
19	11106634	G	T	G11106634T	LDLR	NM_000527.5(LDLR):c.764G>T:p.Cys255Phe	coding	Pathogenic
19	11106652	G	T	G11106652T	LDLR	NM_000527.5(LDLR):c.782G>T:p.Cys261Phe	coding	Pathogenic/Likely_pathogenic
19	11106668	T	A	T11106668A	LDLR	NM_000527.5(LDLR):c.798T>A:p.Asp266Glu	coding	Pathogenic
19	11106679	G	A	G11106679A	LDLR	NM_000527.5(LDLR):c.809G>A:p.Cys270Tyr	coding	Pathogenic/Likely_pathogenic
19	11107377	C	G	C11107377G	LDLR	NM_000527.5(LDLR):c.818-15C>G	noncoding	Benign/Likely_benign
19	11110681	G	A	G11110681A	LDLR	NM_000527.5(LDLR):c.970G>A:p.Gly324Ser	coding	Benign
19	11110688	C	G	C11110688G	LDLR	NM_000527.5(LDLR):c.977C>G:p.Ser326Cys	coding	Pathogenic
19	11110735	G	A	G11110735A	LDLR	NM_000527.5(LDLR):c.1024G>A:p.Asp342Asn	coding	Benign
19	11110756	C	T	C11110756T	LDLR	NM_000527.5(LDLR):c.1045C>T:p.Gln349Ter	coding	Pathogenic
19	11110773	T	G	T11110773G	LDLR	NM_000527.5(LDLR):c.1060+2T>G	noncoding	Pathogenic/Likely_pathogenic
19	11111512	A	G	A11111512G	LDLR	NM_000527.5(LDLR):c.1061-2A>G	noncoding	Pathogenic/Likely_pathogenic
19	11111512	A	T	A11111512T	LDLR	NM_000527.5(LDLR):c.1061-2A>T	noncoding	Pathogenic
19	11111526	G	A	G11111526A	LDLR	NM_000527.5(LDLR):c.1073G>A:p.Cys358Tyr	coding	Pathogenic/Likely_pathogenic
19	11111544	G	A	G11111544A	LDLR	NM_000527.5(LDLR):c.1091G>A:p.Cys364Tyr	coding	Pathogenic/Likely_pathogenic
19	11111582	T	C	T11111582C	LDLR	NM_000527.5(LDLR):c.1129T>C:p.Cys377Arg	coding	Pathogenic
19	11111590	T	A	T11111590A	LDLR	NM_000527.5(LDLR):c.1137T>A:p.Cys379Ter	coding	Pathogenic
19	11111620	G	A	G11111620A	LDLR	NM_000527.5(LDLR):c.1167G>A:p.Thr389=	coding	Benign/Likely_benign
19	11111631	A	C	A11111631C	LDLR	NM_000527.5(LDLR):c.1178A>C:p.Lys393Thr	coding	Pathogenic
19	11113253	C	T	C11113253T	LDLR	NM_000527.5(LDLR):c.1187-25C>T	noncoding	Benign
19	11113418	T	C	T11113418C	LDLR	NM_000527.5(LDLR):c.1327T>C:p.Trp443Arg	coding	Pathogenic/Likely_pathogenic
19	11113447	C	A	C11113447A	LDLR	NM_000527.5(LDLR):c.1356C>A:p.Cys452Ter	coding	Pathogenic
19	11113608	G	A	G11113608A	LDLR	NM_000527.5(LDLR):c.1432G>A:p.Gly478Arg	coding	Pathogenic
19	11113612	T	A	T11113612A	LDLR	NM_000527.5(LDLR):c.1436T>A:p.Leu479Gln	coding	Pathogenic
19	11113726	C	T	C11113726T	LDLR	NM_000527.5(LDLR):c.1550C>T:p.Ser517Phe	coding	Pathogenic
19	11113815	A	G	A11113815G	LDLR	NM_000527.5(LDLR):c.1586+53A>G	noncoding	Benign
19	11116093	G	A	G11116093A	LDLR	NM_000527.5(LDLR):c.1587-1G>A	noncoding	Pathogenic/Likely_pathogenic
19	11116104	T	A	T11116104A	LDLR	NM_000527.5(LDLR):c.1597T>A:p.Trp533Arg	coding	Pathogenic
19	11116105	G	A	G11116105A	LDLR	NM_000527.5(LDLR):c.1598G>A:p.Trp533Ter	coding	Pathogenic
19	11116143	G	C	G11116143C	LDLR	NM_000527.5(LDLR):c.1636G>C:p.Gly546Arg	coding	Pathogenic/Likely_pathogenic
19	11116221	G	A	G11116221A	LDLR	NM_000527.5(LDLR):c.1705+9G>A	noncoding	Benign/Likely_benign
19	11116230	C	A	C11116230A	LDLR	NM_000527.5(LDLR):c.1705+18C>A	noncoding	Benign/Likely_benign
19	11116232	G	A	G11116232A	LDLR	NM_000527.5(LDLR):c.1705+20G>A	noncoding	Benign
19	11116268	C	T	C11116268T	LDLR	NM_000527.5(LDLR):c.1705+56C>T	noncoding	Benign/Likely_benign
19	11116394	C	T	C11116394T	LDLR	NM_000527.5(LDLR):c.1705+182C>T	noncoding	Benign
19	11116421	C	T	C11116421T	LDLR	NM_000527.5(LDLR):c.1705+209C>T	noncoding	Benign
19	11116936	C	T	C11116936T	LDLR	NM_000527.5(LDLR):c.1783C>T:p.Arg595Trp	coding	Pathogenic
19	11116937	G	A	G11116937A	LDLR	NM_000527.5(LDLR):c.1784G>A:p.Arg595Gln	coding	Pathogenic
19	11116997	A	T	A11116997T	LDLR	NM_000527.5(LDLR):c.1844A>T:p.Glu615Val	coding	Pathogenic/Likely_pathogenic
19	11117009	C	G	C11117009G	LDLR	NM_000527.5(LDLR):c.1845+11C>G	noncoding	Pathogenic/Likely_pathogenic
19	11120122	G	T	G11120122T	LDLR	NM_000527.5(LDLR):c.1876G>T:p.Glu626Ter	coding	Pathogenic
19	11120168	T	A	T11120168A	LDLR	NM_000527.5(LDLR):c.1922T>A:p.Leu641Ter	coding	Pathogenic/Likely_pathogenic
19	11120226	G	C	G11120226C	LDLR	NM_000527.5(LDLR):c.1980G>C:p.Gln660His	coding	Pathogenic
19	11120527	G	A	G11120527A	LDLR	NM_000527.5(LDLR):c.2140+5G>A	noncoding	Benign
19	11127872	A	G	A11127872G	LDLR	NM_000527.5(LDLR):c.2312-136A>G	noncoding	Benign/Likely_benign
19	11128006	A	G	A11128006G	LDLR	NM_000527.5(LDLR):c.2312-2A>G	noncoding	Pathogenic
19	11128142	C	T	C11128142T	LDLR	NM_000527.5(LDLR):c.2389+57C>T	noncoding	Benign/Likely_benign
19	11129608	C	T	C11129608T	LDLR	NM_000527.5(LDLR):c.2485C>T:p.Gln829Ter	coding	Pathogenic
19	11129610	G	C	G11129610C	LDLR	NM_000527.5(LDLR):c.2487G>C:p.Gln829His	coding	Pathogenic
19	11129611	A	T	A11129611T	LDLR	NM_000527.5(LDLR):c.2488A>T:p.Lys830Ter	coding	Pathogenic
19	11129672	T	G	T11129672G	LDLR	NM_000527.5(LDLR):c.2547+2T>G	noncoding	Pathogenic
19	11131104	G	A	G11131104A	LDLR	NM_000527.5(LDLR):c.2548-177G>A	noncoding	Benign
19	11131134	G	A	G11131134A	LDLR	NM_000527.5(LDLR):c.2548-147G>A	noncoding	Benign
19	11166398	C	T	C11166398T	KANK2	NM_001136191.3(KANK2):c.*160G>A	noncoding	Benign
19	11166556	G	A	G11166556A	KANK2	NM_001136191.3(KANK2):c.*2C>T	noncoding	Benign
19	11169862	C	T	C11169862T	KANK2	NM_001136191.3(KANK2):c.2502+15G>A	noncoding	Benign/Likely_benign
19	11172840	G	A	G11172840A	KANK2	NM_001136191.3(KANK2):c.2211+141C>T	noncoding	Benign
19	11173193	C	T	C11173193T	KANK2	NM_001136191.3(KANK2):c.2069-70G>A	noncoding	Benign
19	11173352	T	C	T11173352C	KANK2	NM_001136191.3(KANK2):c.2069-229A>G	noncoding	Benign
19	11174210	G	A	G11174210A	KANK2	NM_001136191.3(KANK2):c.2068+263C>T	noncoding	Benign
19	11174215	T	A	T11174215A	KANK2	NM_001136191.3(KANK2):c.2068+258A>T	noncoding	Benign
19	11174247	G	A	G11174247A	KANK2	NM_001136191.3(KANK2):c.2068+226C>T	noncoding	Benign
19	11174387	G	A	G11174387A	KANK2	NM_001136191.3(KANK2):c.2068+86C>T	noncoding	Benign
19	11174714	G	A	G11174714A	KANK2	NM_001136191.3(KANK2):c.1849-22C>T	noncoding	Benign
19	11174781	G	A	G11174781A	KANK2	NM_001136191.3(KANK2):c.1849-89C>T	noncoding	Benign
19	11174940	A	G	A11174940G	KANK2	NM_001136191.3(KANK2):c.1849-248T>C	noncoding	Benign
19	11175740	G	A	G11175740A	KANK2	NM_001136191.3(KANK2):c.1848+162C>T	noncoding	Benign
19	11175849	G	T	G11175849T	KANK2	NM_001136191.3(KANK2):c.1848+53C>A	noncoding	Benign
19	11176029	G	A	G11176029A	KANK2	NM_001136191.3(KANK2):c.1761-40C>T	noncoding	Benign
19	11176325	G	A	G11176325A	KANK2	NM_001136191.3(KANK2):c.1760+253C>T	noncoding	Benign
19	11176397	C	G	C11176397G	KANK2	NM_001136191.3(KANK2):c.1760+181G>C	noncoding	Benign
19	11176677	G	A	G11176677A	KANK2	NM_001136191.3(KANK2):c.1661C>T:p.Ala554Val	coding	Benign
19	11176778	G	A	G11176778A	KANK2	NM_001136191.3(KANK2):c.1560C>T:p.Asn520=	coding	Benign
19	11178095	G	A	G11178095A	KANK2	NM_001136191.3(KANK2):c.1520+250C>T	noncoding	Benign
19	11178701	G	A	G11178701A	KANK2	NM_001136191.3(KANK2):c.1269C>T:p.Ala423=	coding	Benign
19	11192746	G	A	G11192746A	KANK2	NM_001136191.3(KANK2):c.1249+85C>T	noncoding	Benign
19	11192792	C	G	C11192792G	KANK2	NM_001136191.3(KANK2):c.1249+39G>C	noncoding	Benign
19	11192793	C	A	C11192793A	KANK2	NM_001136191.3(KANK2):c.1249+38G>T	noncoding	Benign
19	11192793	C	G	C11192793G	KANK2	NM_001136191.3(KANK2):c.1249+38G>C	noncoding	Benign
19	11192878	A	G	A11192878G	KANK2	NM_001136191.3(KANK2):c.1202T>C:p.Met401Thr	coding	Benign
19	11193108	C	T	C11193108T	KANK2	NM_001136191.3(KANK2):c.972G>A:p.Pro324=	coding	Benign/Likely_benign
19	11193213	G	A	G11193213A	KANK2	NM_001136191.3(KANK2):c.867C>T:p.Val289=	coding	Benign/Likely_benign
19	11193267	A	G	A11193267G	KANK2	NM_001136191.3(KANK2):c.813T>C:p.Val271=	coding	Benign
19	11193728	C	T	C11193728T	KANK2	NM_001136191.3(KANK2):c.352G>A:p.Gly118Ser	coding	Benign
19	11193822	C	T	C11193822T	KANK2	NM_001136191.3(KANK2):c.258G>A:p.Ser86=	coding	Benign
19	11194485	A	G	A11194485G	KANK2	NM_001136191.3(KANK2):c.27T>C:p.Ala9=	coding	Benign
19	11194569	T	C	T11194569C	KANK2	NM_001136191.3(KANK2):c.-58A>G	noncoding	Benign
19	11194735	C	T	C11194735T	KANK2	NM_001136191.3(KANK2):c.-79-145G>A	noncoding	Benign
19	11194736	G	A	G11194736A	KANK2	NM_001136191.3(KANK2):c.-79-146C>T	noncoding	Benign
19	11194753	C	A	C11194753A	KANK2	NM_001136191.3(KANK2):c.-79-163G>T	noncoding	Benign
19	11199195	C	T	C11199195T	DOCK6	Single_allele	noncoding	Benign
19	11199430	C	T	C11199430T	DOCK6	NM_020812.4(DOCK6):c.*67G>A	noncoding	Benign/Likely_benign
19	11200244	C	T	C11200244T	DOCK6	NM_020812.4(DOCK6):c.6101+64G>A	noncoding	Benign
19	11201209	G	C	G11201209C	DOCK6	NM_020812.4(DOCK6):c.5689-157C>G	noncoding	Benign
19	11201562	G	A	G11201562A	DOCK6	NM_020812.4(DOCK6):c.5688+327C>T	noncoding	Benign
19	11204072	C	T	C11204072T	DOCK6	NM_020812.4(DOCK6):c.5235+9G>A	noncoding	Benign
19	11204320	G	C	G11204320C	DOCK6	NM_020812.4(DOCK6):c.5100C>G:p.Tyr1700Ter	coding	Pathogenic
19	11204667	A	G	A11204667G	DOCK6	NM_020812.4(DOCK6):c.5089-336T>C	noncoding	Benign
19	11209016	G	A	G11209016A	DOCK6	NM_020812.4(DOCK6):c.4839C>T:p.His1613=	coding	Benign
19	11209116	T	C	T11209116C	DOCK6	NM_020812.4(DOCK6):c.4752-13A>G	noncoding	Benign
19	11209302	G	A	G11209302A	DOCK6	NM_020812.4(DOCK6):c.4752-199C>T	noncoding	Benign
19	11211775	C	T	C11211775T	DOCK6	NM_020812.4(DOCK6):c.4751+1G>A	noncoding	Pathogenic
19	11213182	G	A	G11213182A	DOCK6	NM_020812.4(DOCK6):c.4485C>T:p.Ile1495=	coding	Benign
19	11213221	G	A	G11213221A	DOCK6	NM_020812.4(DOCK6):c.4446C>T:p.Ser1482=	coding	Benign
19	11213515	C	A	C11213515A	DOCK6	NM_020812.4(DOCK6):c.4339-187G>T	noncoding	Benign
19	11214214	T	C	T11214214C	DOCK6	NM_020812.4(DOCK6):c.4338+61A>G	noncoding	Benign
19	11214289	C	T	C11214289T	DOCK6	NM_020812.4(DOCK6):c.4324G>A:p.Ala1442Thr	coding	Benign
19	11214553	C	T	C11214553T	DOCK6	NM_020812.4(DOCK6):c.4203G>A:p.Gln1401=	coding	Benign
19	11214662	A	T	A11214662T	DOCK6	NM_020812.4(DOCK6):c.4107-13T>A	noncoding	Benign/Likely_benign
19	11214741	A	G	A11214741G	DOCK6	NM_020812.4(DOCK6):c.4107-92T>C	noncoding	Benign
19	11215386	C	T	C11215386T	DOCK6	NM_020812.4(DOCK6):c.4106+1G>A	noncoding	Pathogenic
19	11215810	G	A	G11215810A	DOCK6	NM_020812.4(DOCK6):c.4012C>T:p.Arg1338Ter	coding	Pathogenic
19	11215953	C	A	C11215953A	DOCK6	NM_020812.4(DOCK6):c.3895-26G>T	noncoding	Benign
19	11221780	C	T	C11221780T	DOCK6	NM_020812.4(DOCK6):c.3550+71G>A	noncoding	Benign
19	11221829	C	T	C11221829T	DOCK6	NM_020812.4(DOCK6):c.3550+22G>A	noncoding	Benign
19	11222144	C	T	C11222144T	DOCK6	NM_020812.4(DOCK6):c.3345G>A:p.Thr1115=	coding	Benign
19	11222682	G	T	G11222682T	DOCK6	NM_020812.4(DOCK6):c.3240+53C>A	noncoding	Benign
19	11222683	A	T	A11222683T	DOCK6	NM_020812.4(DOCK6):c.3240+52T>A	noncoding	Benign
19	11222920	T	C	T11222920C	DOCK6	NM_020812.4(DOCK6):c.3070-15A>G	noncoding	Benign
19	11227581	A	G	A11227581G	DOCK6	NM_020812.4(DOCK6):c.2815-104T>C	noncoding	Benign
19	11227633	C	A	C11227633A	DOCK6	NM_020812.4(DOCK6):c.2815-156G>T	noncoding	Benign
19	11229292	C	T	C11229292T	DOCK6	NM_020812.4(DOCK6):c.2719-257G>A	noncoding	Benign
19	11233119	A	G	A11233119G	DOCK6	NM_020812.4(DOCK6):c.2718+84T>C	noncoding	Benign
19	11233458	T	C	T11233458C	DOCK6	NM_020812.4(DOCK6):c.2555-92A>G	noncoding	Benign
19	11235576	A	C	A11235576C	DOCK6	NM_020812.4(DOCK6):c.2554+22T>G	noncoding	Benign
19	11235874	C	T	C11235874T	DOCK6	NM_020812.4(DOCK6):c.2393-115G>A	noncoding	Benign
19	11236817	T	C	T11236817C	DOCK6	NM_020812.4(DOCK6):c.2136A>G:p.Thr712=	coding	Benign
19	11236922	T	C	T11236922C	DOCK6	NM_020812.4(DOCK6):c.2074-43A>G	noncoding	Benign
19	11236981	C	T	C11236981T	DOCK6	NM_020812.4(DOCK6):c.2074-102G>A	noncoding	Benign
19	11237304	G	C	G11237304C	DOCK6	NM_020812.4(DOCK6):c.2073+152C>G	noncoding	Benign
19	11237422	G	A	G11237422A	DOCK6	NM_020812.4(DOCK6):c.2073+34C>T	noncoding	Benign
19	11237798	G	C	G11237798C	DOCK6	NM_020812.4(DOCK6):c.1833-19C>G	noncoding	Benign
19	11237845	G	A	G11237845A	DOCK6	NM_020812.4(DOCK6):c.1833-66C>T	noncoding	Benign
19	11238235	A	G	A11238235G	DOCK6	NM_020812.4(DOCK6):c.1713T>C:p.Ala571=	coding	Benign
19	11238284	G	A	G11238284A	DOCK6	NM_020812.4(DOCK6):c.1664C>T:p.Pro555Leu	coding	Benign
19	11238466	C	G	C11238466G	DOCK6	NM_020812.4(DOCK6):c.1644-162G>C	noncoding	Benign
19	11243143	G	A	G11243143A	DOCK6	NM_020812.4(DOCK6):c.1396C>T:p.Arg466Ter	coding	Pathogenic
19	11243231	A	G	A11243231G	DOCK6	NM_020812.4(DOCK6):c.1386+27T>C	noncoding	Benign
19	11243470	C	G	C11243470G	DOCK6	NM_020812.4(DOCK6):c.1259-85G>C	noncoding	Benign
19	11243722	C	A	C11243722A	DOCK6	NM_020812.4(DOCK6):c.1105-12G>T	noncoding	Benign
19	11248024	T	C	T11248024C	DOCK6	NM_020812.4(DOCK6):c.806+42A>G	noncoding	Benign
19	11248290	G	A	G11248290A	DOCK6	NM_020812.4(DOCK6):c.721-139C>T	noncoding	Benign
19	11251044	G	A	G11251044A	DOCK6	NM_020812.4(DOCK6):c.550C>T:p.Arg184Ter	coding	Pathogenic
19	11252185	C	G	C11252185G	DOCK6	NM_020812.4(DOCK6):c.441G>C:p.Lys147Asn	coding	Benign/Likely_benign
19	11252833	C	A	C11252833A	DOCK6	NM_020812.4(DOCK6):c.258G>T:p.Leu86=	coding	Benign
19	11253448	G	A	G11253448A	DOCK6	NM_020812.4(DOCK6):c.132+191C>T	noncoding	Benign
19	11253623	C	T	C11253623T	DOCK6	NM_020812.4(DOCK6):c.132+16G>A	noncoding	Benign
19	11253819	C	T	C11253819T	DOCK6	NM_020812.4(DOCK6):c.45-93G>A	noncoding	Benign
19	11262117	G	C	G11262117C	DOCK6	NM_020812.4(DOCK6):c.44+280C>G	noncoding	Benign
19	11262429	G	C	G11262429C	DOCK6	NM_020812.4(DOCK6):c.12C>G:p.Ser4=	coding	Benign
19	11423723	G	T	G11423723T	ODAD3	NM_145045.5(ODAD3):c.1116+154C>A	noncoding	Benign
19	11423833	G	C	G11423833C	ODAD3	NM_145045.5(ODAD3):c.1116+44C>G	noncoding	Benign
19	11424045	G	A	G11424045A	ODAD3	NM_145045.5(ODAD3):c.964-16C>T	noncoding	Benign
19	11426429	G	A	G11426429A	ODAD3	NM_145045.5(ODAD3):c.840+17C>T	noncoding	Benign
19	11426590	G	C	G11426590C	ODAD3	NM_145045.5(ODAD3):c.715-19C>G	noncoding	Benign
19	11431161	C	G	C11431161G	ODAD3	NM_145045.5(ODAD3):c.245-141G>C	noncoding	Benign
19	11435213	C	T	C11435213T	ODAD3	NM_001302453.1(ODAD3):c.82+477G>A	noncoding	Benign
19	11435744	T	C	T11435744C	PRKCSH	NM_001289104.2(PRKCSH):c.-78+38T>C	coding	Benign
19	11436685	C	T	C11436685T	PRKCSH	NM_001289104.2(PRKCSH):c.196+180C>T	noncoding	Benign
19	11441327	G	A	G11441327A	PRKCSH	NM_001289104.2(PRKCSH):c.438G>A:p.Glu146=	coding	Benign
19	11441654	G	A	G11441654A	PRKCSH	NM_001289104.2(PRKCSH):c.468+297G>A	noncoding	Benign
19	11442404	C	T	C11442404T	PRKCSH	NM_001289104.2(PRKCSH):c.487C>T:p.Gln163Ter	coding	Pathogenic
19	11445316	C	T	C11445316T	PRKCSH	NM_001289104.2(PRKCSH):c.599-73C>T	noncoding	Benign
19	11445482	C	A	C11445482A	PRKCSH	NM_001289104.2(PRKCSH):c.683+9C>A	noncoding	Benign
19	11446882	T	C	T11446882C	PRKCSH	NM_001289104.2(PRKCSH):c.763-192T>C	noncoding	Benign
19	11446898	C	T	C11446898T	PRKCSH	NM_001289104.2(PRKCSH):c.763-176C>T	noncoding	Benign
19	11447237	T	C	T11447237C	PRKCSH	NM_001289104.2(PRKCSH):c.849+77T>C	noncoding	Benign
19	11447636	A	G	A11447636G	PRKCSH	NM_001289104.2(PRKCSH):c.1029+18A>G	noncoding	Benign
19	11448203	C	T	C11448203T	PRKCSH	NM_001289104.2(PRKCSH):c.1127-19C>T	noncoding	Benign
19	11448343	A	G	A11448343G	PRKCSH	NM_001289104.2(PRKCSH):c.1196+52A>G	noncoding	Benign
19	11448674	C	T	C11448674T	PRKCSH	NM_001289104.2(PRKCSH):c.1286+45C>T	noncoding	Benign
19	11448881	G	A	G11448881A	PRKCSH	NM_001289104.2(PRKCSH):c.1287-33G>A	noncoding	Benign
19	11448965	C	T	C11448965T	PRKCSH	NM_001289104.2(PRKCSH):c.1338C>T:p.Leu446=	coding	Benign
19	11449076	C	T	C11449076T	PRKCSH	NM_001289104.2(PRKCSH):c.1362C>T:p.Gly454=	coding	Benign
19	11449532	T	G	T11449532G	PRKCSH	NM_001289104.2(PRKCSH):c.*16+104T>G	noncoding	Benign
19	11458582	G	A	G11458582A	ELAVL3	NM_001420.4(ELAVL3):c.363C>T:p.Ser121=	coding	Benign
19	11575254	T	C	T11575254C	ACP5	NM_001611.5(ACP5):c.736-2A>G	noncoding	Pathogenic
19	11576245	G	A	G11576245A	ACP5	NM_001611.5(ACP5):c.733C>T:p.Gln245Ter	coding	Pathogenic
19	11576266	A	G	A11576266G	ACP5	NM_001611.5(ACP5):c.712T>C:p.Cys238Arg	coding	Pathogenic
19	11576599	G	C	G11576599C	ACP5	NM_001611.5(ACP5):c.390-11C>G	noncoding	Benign
19	11577002	C	T	C11577002T	ACP5	NM_001611.5(ACP5):c.261+55G>A	noncoding	Benign
19	11577096	G	T	G11577096T	ACP5	NM_001611.5(ACP5):c.222C>A:p.Tyr74Ter	coding	Pathogenic
19	11577385	G	A	G11577385A	ACP5	NM_001611.5(ACP5):c.1-68C>T	noncoding	Benign
19	11577645	T	C	T11577645C	ACP5	NM_001611.5(ACP5):c.-53A>G	noncoding	Benign
19	11578343	T	C	T11578343C	ACP5	NM_001111034.3(ACP5):c.-88+242A>G	noncoding	Benign
19	12646884	C	T	C12646884T	MAN2B1	NM_000528.4(MAN2B1):c.2924-152G>A	noncoding	Benign
19	12647567	G	T	G12647567T	MAN2B1	NM_000528.4(MAN2B1):c.2696C>A:p.Ser899Ter	coding	Pathogenic/Likely_pathogenic
19	12647763	C	G	C12647763G	MAN2B1	NM_000528.4(MAN2B1):c.2665-165G>C	noncoding	Benign
19	12647909	A	G	A12647909G	MAN2B1	NM_000528.4(MAN2B1):c.2664+266T>C	noncoding	Benign
19	12648893	G	A	G12648893A	MAN2B1	NM_000528.4(MAN2B1):c.2436+243C>T	noncoding	Benign
19	12649119	G	A	G12649119A	MAN2B1	NM_000528.4(MAN2B1):c.2436+17C>T	noncoding	Benign/Likely_benign
19	12649473	A	C	A12649473C	MAN2B1	NM_000528.4(MAN2B1):c.2268-45T>G	noncoding	Benign
19	12650005	C	T	C12650005T	MAN2B1	NM_000528.4(MAN2B1):c.2175G>A:p.Trp725Ter	coding	Pathogenic
19	12650181	C	T	C12650181T	MAN2B1	NM_000528.4(MAN2B1):c.2088G>A:p.Trp696Ter	coding	Pathogenic
19	12651959	T	C	T12651959C	MAN2B1	NM_000528.4(MAN2B1):c.2046+194A>G	noncoding	Benign
19	12652151	A	T	A12652151T	MAN2B1	NM_000528.4(MAN2B1):c.2046+2T>A	noncoding	Pathogenic/Likely_pathogenic
19	12655722	C	T	C12655722T	MAN2B1	NM_000528.4(MAN2B1):c.1802G>A:p.Trp601Ter	coding	Pathogenic
19	12655880	C	T	C12655880T	MAN2B1	NM_000528.4(MAN2B1):c.1645-1G>A	coding	Pathogenic/Likely_pathogenic
19	12656688	C	T	C12656688T	MAN2B1	NM_000528.4(MAN2B1):c.1528-1G>A	coding	Pathogenic
19	12656947	A	C	A12656947C	MAN2B1	NM_000528.4(MAN2B1):c.1527+2T>G	noncoding	Pathogenic
19	12657096	C	G	C12657096G	MAN2B1	NM_000528.4(MAN2B1):c.1420-40G>C	noncoding	Benign
19	12657430	G	T	G12657430T	MAN2B1	NM_000528.4(MAN2B1):c.1419+16C>A	noncoding	Benign
19	12657611	G	A	G12657611A	MAN2B1	NM_000528.4(MAN2B1):c.1310-56C>T	noncoding	Benign
19	12658029	G	T	G12658029T	MAN2B1	NM_000528.4(MAN2B1):c.1309+34C>A	noncoding	Benign
19	12658226	G	A	G12658226A	MAN2B1	NM_000528.4(MAN2B1):c.1228C>T:p.Gln410Ter	coding	Pathogenic
19	12658314	G	T	G12658314T	MAN2B1	NM_000528.4(MAN2B1):c.1140C>A:p.Tyr380Ter	coding	Pathogenic
19	12658337	T	A	T12658337A	MAN2B1	NM_000528.4(MAN2B1):c.1117A>T:p.Lys373Ter	coding	Pathogenic
19	12658359	G	A	G12658359A	MAN2B1	NM_000528.4(MAN2B1):c.1110-15C>T	noncoding	Benign
19	12660999	T	C	T12660999C	MAN2B1	NM_000528.4(MAN2B1):c.1026+261A>G	noncoding	Benign
19	12661258	A	C	A12661258C	MAN2B1	NM_000528.4(MAN2B1):c.1026+2T>G	noncoding	Pathogenic
19	12661550	C	A	C12661550A	MAN2B1	NM_000528.4(MAN2B1):c.910-174G>T	noncoding	Benign
19	12663235	C	G	C12663235G	MAN2B1	NM_000528.4(MAN2B1):c.909+82G>C	noncoding	Benign
19	12664780	C	G	C12664780G	MAN2B1	NM_000528.4(MAN2B1):c.630+12G>C	noncoding	Benign/Likely_benign
19	12664927	G	T	G12664927T	MAN2B1	NM_000528.4(MAN2B1):c.495C>A:p.Tyr165Ter	coding	Pathogenic/Likely_pathogenic
19	12665480	G	A	G12665480A	MAN2B1	NM_000528.4(MAN2B1):c.308C>T:p.Ser103Leu	coding	Pathogenic
19	12665702	C	G	C12665702G	MAN2B1	NM_000528.4(MAN2B1):c.262+1G>C	noncoding	Pathogenic
19	12665743	G	T	G12665743T	MAN2B1	NM_000528.4(MAN2B1):c.222C>A:p.Asp74Glu	coding	Pathogenic
19	12665750	T	A	T12665750A	MAN2B1	NM_000528.4(MAN2B1):c.215A>T:p.His72Leu	coding	Pathogenic/Likely_pathogenic
19	12666636	C	T	C12666636T	MAN2B1	NM_000528.4(MAN2B1):c.66G>A:p.Trp22Ter	coding	Pathogenic
19	12679696	T	C	T12679696C	DHPS	NM_001930.4(DHPS):c.518A>G:p.Asn173Ser	coding	Pathogenic/Likely_pathogenic
19	12706227	G	A	G12706227A	TNPO2	NM_001382241.1(TNPO2):c.1637C>T:p.Ala546Val	coding	Pathogenic
19	12711303	C	G	C12711303G	TNPO2	NM_001382241.1(TNPO2):c.1110G>C:p.Trp370Cys	coding	Pathogenic
19	12711305	A	G	A12711305G	TNPO2	NM_001382241.1(TNPO2):c.1108T>C:p.Trp370Arg	coding	Pathogenic
19	12715505	C	T	C12715505T	TNPO2	NM_001382241.1(TNPO2):c.466G>A:p.Asp156Asn	coding	Pathogenic
19	12766150	G	C	G12766150C	HOOK2	NM_013312.3(HOOK2):c.1464C>G:p.His488Gln	coding	Benign
19	12806286	G	C	G12806286C	RNASEH2A	Single_allele	noncoding	Benign
19	12806872	T	C	T12806872C	RNASEH2A	NM_006397.3(RNASEH2A):c.127+72T>C	noncoding	Benign
19	12806947	A	T	A12806947T	RNASEH2A	NM_006397.3(RNASEH2A):c.128-61A>T	noncoding	Benign
19	12807523	T	A	T12807523A	RNASEH2A	NM_006397.3(RNASEH2A):c.411+17T>A	noncoding	Benign
19	12810324	G	A	G12810324A	RNASEH2A	NM_006397.3(RNASEH2A):c.557G>A:p.Arg186Gln	coding	Pathogenic/Likely_pathogenic
19	12810567	T	G	T12810567G	RNASEH2A	NM_006397.3(RNASEH2A):c.637+163T>G	noncoding	Benign
19	12812992	G	A	G12812992A	RNASEH2A	NM_006397.3(RNASEH2A):c.638-91G>A	noncoding	Benign
19	12847883	T	C	T12847883C	MAST1	NM_014975.3(MAST1):c.600T>C:p.Phe200=	coding	Benign
19	12847974	T	C	T12847974C	MAST1	NM_014975.3(MAST1):c.691T>C:p.Cys231Arg	coding	Pathogenic
19	12852032	C	A	C12852032A	MAST1	NM_014975.3(MAST1):c.873C>A:p.Cys291Ter	coding	Pathogenic
19	12865108	T	C	T12865108C	MAST1	NM_014975.3(MAST1):c.1568T>C:p.Leu523Pro	coding	Pathogenic
19	12873426	T	C	T12873426C	MAST1	NM_014975.3(MAST1):c.3366T>C:p.Asp1122_Ser1123=	coding	Benign
19	12876230	G	A	G12876230A	DNASE2	NM_001375.3(DNASE2):c.843C>T:p.Phe281=	coding	Benign
19	12878475	C	T	C12878475T	DNASE2	NM_001375.3(DNASE2):c.616G>A:p.Val206Ile	coding	Benign
19	12878480	T	C	T12878480C	DNASE2	NM_001375.3(DNASE2):c.611A>G:p.His204Arg	coding	Benign
19	12878746	G	A	G12878746A	DNASE2	NM_001375.3(DNASE2):c.435C>T:p.Ser145=	coding	Benign
19	12878819	T	A	T12878819A	DNASE2	NM_001375.3(DNASE2):c.362A>T:p.Asp121Val	coding	Pathogenic
19	12878834	C	G	C12878834G	DNASE2	NM_001375.3(DNASE2):c.347G>C:p.Gly116Ala	coding	Pathogenic
19	12880864	T	C	T12880864C	DNASE2	NM_001375.3(DNASE2):c.284A>G:p.Tyr95Cys	coding	Pathogenic
19	12880958	G	T	G12880958T	DNASE2	NM_001375.3(DNASE2):c.267+14C>A	noncoding	Benign
19	12881028	G	A	G12881028A	DNASE2	NM_001375.3(DNASE2):c.211C>T:p.Pro71Ser	coding	Benign
19	12881105	G	C	G12881105C	DNASE2	NM_001375.3(DNASE2):c.134C>G:p.Ala45Gly	coding	Benign
19	12885971	G	C	G12885971C	KLF1	NM_006563.5(KLF1):c.259C>G:p.Pro87Ala	coding	Benign/Likely_benign
19	12887391	G	C	G12887391C	KLF1	Single_allele	noncoding	Benign
19	12891219	A	G	A12891219G	GCDH	NM_000159.4(GCDH):c.-35+17A>G	noncoding	Benign
19	12891395	G	T	G12891395T	GCDH	NM_000159.4(GCDH):c.91G>T:p.Glu31Ter	coding	Pathogenic
19	12891523	G	A	G12891523A	GCDH	NM_000159.4(GCDH):c.127+1G>A	coding	Pathogenic/Likely_pathogenic
19	12891538	C	G	C12891538G	GCDH	NM_000159.4(GCDH):c.127+16C>G	coding	Benign
19	12891586	G	C	G12891586C	GCDH	NM_000159.4(GCDH):c.127+64G>C	coding	Benign
19	12891749	T	G	T12891749G	GCDH	NM_000159.4(GCDH):c.128-82T>G	coding	Benign
19	12891752	G	T	G12891752T	GCDH	NM_000159.4(GCDH):c.128-79G>T	coding	Benign
19	12891852	G	A	G12891852A	GCDH	NM_000159.4(GCDH):c.149G>A:p.Trp50Ter	coding	Pathogenic/Likely_pathogenic
19	12891860	C	T	C12891860T	GCDH	NM_000159.4(GCDH):c.157C>T:p.Pro53Ser	coding	Pathogenic
19	12891895	G	T	G12891895T	GCDH	NM_000159.4(GCDH):c.192G>T:p.Glu64Asp	coding	Pathogenic/Likely_pathogenic
19	12891925	C	A	C12891925A	GCDH	NM_000159.4(GCDH):c.222C>A:p.Tyr74Ter	coding	Pathogenic
19	12891966	G	A	G12891966A	GCDH	NM_000159.4(GCDH):c.263G>A:p.Arg88His	coding	Pathogenic
19	12892119	T	G	T12892119G	GCDH	NM_000159.4(GCDH):c.275T>G:p.Phe92Cys	coding	Pathogenic
19	12892145	G	A	G12892145A	GCDH	NM_000159.4(GCDH):c.301G>A:p.Gly101Arg	coding	Pathogenic/Likely_pathogenic
19	12892178	G	T	G12892178T	GCDH	NM_000159.4(GCDH):c.334G>T:p.Gly112Ter	coding	Pathogenic/Likely_pathogenic
19	12893485	T	C	T12893485C	GCDH	NM_000159.4(GCDH):c.337T>C:p.Tyr113His	coding	Pathogenic/Likely_pathogenic
19	12893537	T	C	T12893537C	GCDH	NM_000159.4(GCDH):c.389T>C:p.Leu130Pro	coding	Pathogenic
19	12893545	G	A	G12893545A	GCDH	NM_000159.4(GCDH):c.397G>A:p.Val133Met	coding	Pathogenic
19	12893594	T	C	T12893594C	GCDH	NM_000159.4(GCDH):c.446T>C:p.Met149Thr	coding	Pathogenic
19	12893611	T	C	T12893611C	GCDH	NM_000159.4(GCDH):c.463T>C:p.Tyr155His	coding	Pathogenic
19	12893615	G	T	G12893615T	GCDH	NM_000159.4(GCDH):c.467G>T:p.Gly156Val	coding	Pathogenic
19	12893654	G	A	G12893654A	GCDH	NM_000159.4(GCDH):c.505+1G>A	coding	Pathogenic
19	12893921	C	T	C12893921T	GCDH	NM_000159.4(GCDH):c.505+268C>T	noncoding	Benign
19	12895871	T	C	T12895871C	GCDH	NM_000159.4(GCDH):c.506-121T>C	noncoding	Benign
19	12895873	G	A	G12895873A	GCDH	NM_000159.4(GCDH):c.506-119G>A	noncoding	Benign
19	12895997	G	T	G12895997T	GCDH	NM_000159.4(GCDH):c.511G>T:p.Gly171Trp	coding	Pathogenic
19	12896069	G	A	G12896069A	GCDH	NM_000159.4(GCDH):c.583G>A:p.Ala195Thr	coding	Pathogenic
19	12896240	T	G	T12896240G	GCDH	NM_000159.4(GCDH):c.671T>G:p.Val224Gly	coding	Pathogenic
19	12896244	G	A	G12896244A	GCDH	NM_000159.4(GCDH):c.675G>A:p.Trp225Ter	coding	Pathogenic/Likely_pathogenic
19	12896248	C	T	C12896248T	GCDH	NM_000159.4(GCDH):c.679C>T:p.Arg227Trp	coding	Pathogenic
19	12896252	G	T	G12896252T	GCDH	NM_000159.4(GCDH):c.683G>T:p.Cys228Phe	coding	Pathogenic
19	12896275	T	C	T12896275C	GCDH	NM_000159.4(GCDH):c.706T>C:p.Phe236Leu	coding	Pathogenic
19	12896344	T	C	T12896344C	GCDH	NM_000159.4(GCDH):c.775T>C:p.Ser259Pro	coding	Pathogenic
19	12896365	A	G	A12896365G	GCDH	NM_000159.4(GCDH):c.796A>G:p.Met266Val	coding	Pathogenic
19	12896372	G	T	G12896372T	GCDH	NM_000159.4(GCDH):c.803G>T:p.Gly268Val	coding	Pathogenic
19	12896914	C	T	C12896914T	GCDH	NM_000159.4(GCDH):c.857C>T:p.Pro286Leu	coding	Pathogenic
19	12896938	G	C	G12896938C	GCDH	NM_000159.4(GCDH):c.881G>C:p.Arg294Pro	coding	Pathogenic
19	12896962	T	C	T12896962C	GCDH	NM_000159.4(GCDH):c.905T>C:p.Leu302Pro	coding	Pathogenic
19	12896995	G	A	G12896995A	GCDH	NM_000159.4(GCDH):c.938G>A:p.Arg313Gln	coding	Pathogenic/Likely_pathogenic
19	12897344	A	G	A12897344G	GCDH	NM_000159.4(GCDH):c.998A>G:p.Gln333Arg	coding	Pathogenic
19	12897723	C	A	C12897723A	GCDH	NM_000159.4(GCDH):c.1103C>A:p.Ser368Tyr	coding	Pathogenic
19	12897743	T	C	T12897743C	GCDH	NM_000159.4(GCDH):c.1123T>C:p.Cys375Arg	coding	Pathogenic
19	12897767	C	T	C12897767T	GCDH	NM_000159.4(GCDH):c.1147C>T:p.Arg383Cys	coding	Pathogenic/Likely_pathogenic
19	12897777	G	A	G12897777A	GCDH	NM_000159.4(GCDH):c.1157G>A:p.Arg386Gln	coding	Pathogenic
19	12897795	A	G	A12897795G	GCDH	NM_000159.4(GCDH):c.1175A>G:p.Asn392Ser	coding	Pathogenic
19	12897796	T	G	T12897796G	GCDH	NM_000159.4(GCDH):c.1176T>G:p.Asn392Lys	coding	Pathogenic
19	12897831	C	G	C12897831G	GCDH	NM_000159.4(GCDH):c.1211C>G:p.Ala404Gly	coding	Pathogenic
19	12897864	G	T	G12897864T	GCDH	NM_000159.4(GCDH):c.1243+1G>T	coding	Pathogenic
19	12899467	G	A	G12899467A	GCDH	NM_000159.4(GCDH):c.1244-1G>A	noncoding	Pathogenic
19	12899473	C	G	C12899473G	GCDH	NM_000159.4(GCDH):c.1249C>G:p.His417Asp	coding	Pathogenic
19	12899702	G	A	G12899702A	GCDH	NM_000159.4(GCDH):c.*161G>A	coding	Benign
19	12924824	A	G	A12924824G	FARSA	NM_004461.3(FARSA):c.1027-17T>C	noncoding	Benign
19	12928371	C	T	C12928371T	FARSA	NM_004461.3(FARSA):c.812G>A:p.Arg271His	coding	Pathogenic
19	12938466	A	C	A12938466C	CALR	Single_allele	noncoding	Benign
19	12938659	T	C	T12938659C	CALR	NM_004343.4(CALR):c.-21T>C	noncoding	Benign
19	12938676	C	T	C12938676T	CALR	NM_004343.4(CALR):c.-4C>T	noncoding	Benign
19	12939276	C	G	C12939276G	CALR	NM_004343.4(CALR):c.193+41C>G	noncoding	Benign
19	12939387	A	G	A12939387G	CALR	NM_004343.4(CALR):c.194-41A>G	noncoding	Benign
19	12941015	C	T	C12941015T	CALR	NM_004343.4(CALR):c.960+128C>T	noncoding	Benign
19	12941177	A	G	A12941177G	CALR	NM_004343.4(CALR):c.960+290A>G	noncoding	Benign
19	12943967	G	T	G12943967T	CALR	NM_004343.4(CALR):c.*54G>T	noncoding	Benign
19	13073073	C	T	C13073073T	NFIX	NM_001365902.3(NFIX):c.586C>T:p.Gln196Ter	coding	Pathogenic
19	13073498	T	G	T13073498G	NFIX	NM_001365902.3(NFIX):c.697+2T>G	noncoding	Pathogenic
19	13073894	C	T	C13073894T	NFIX	NM_001365902.3(NFIX):c.698-12C>T	noncoding	Benign/Likely_benign
19	13075651	G	A	G13075651A	NFIX	NM_001365902.3(NFIX):c.935G>A:p.Trp312Ter	coding	Pathogenic
19	13078549	C	T	C13078549T	NFIX	NM_001365902.3(NFIX):c.956-64C>T	noncoding	Benign
19	13078669	C	T	C13078669T	NFIX	NM_001365902.3(NFIX):c.1012C>T:p.Gln338Ter	coding	Pathogenic
19	13078683	G	A	G13078683A	NFIX	NM_001365902.3(NFIX):c.1026G>A:p.Pro342=	coding	Benign
19	13078755	G	A	G13078755A	NFIX	NM_001365902.3(NFIX):c.1078+20G>A	noncoding	Benign
19	13081483	T	A	T13081483A	NFIX	NM_001365902.3(NFIX):c.1079-197T>A	noncoding	Benign
19	13081600	A	G	A13081600G	NFIX	NM_001365902.3(NFIX):c.1079-80A>G	noncoding	Benign
19	13081850	G	T	G13081850T	NFIX	NM_001365902.3(NFIX):c.1249G>T:p.Gly417Ter	coding	Pathogenic
19	13087887	G	A	G13087887A	NFIX	NM_001365902.3(NFIX):c.1255-102G>A	noncoding	Benign
19	13088018	G	A	G13088018A	NFIX	NM_001365902.3(NFIX):c.1284G>A:p.Pro428=	coding	Benign
19	13090163	C	G	C13090163G	NFIX	NM_001365902.3(NFIX):c.1403-136C>G	noncoding	Benign
19	13105088	G	A	G13105088A	TRMT1	NM_001136035.4(TRMT1):c.1834-7C>T	noncoding	Pathogenic
19	13109889	C	G	C13109889G	TRMT1	NM_001136035.4(TRMT1):c.1106+26G>C	noncoding	Benign
19	13135420	G	A	G13135420A	NACC1	NM_052876.4(NACC1):c.213G>A:p.Ala71=	coding	Benign
19	13135468	G	A	G13135468A	NACC1	NM_052876.4(NACC1):c.261G>A:p.Thr87=	coding	Benign
19	13135611	C	T	C13135611T	NACC1	NM_052876.4(NACC1):c.404C>T:p.Ala135Val	coding	Benign
19	13135659	C	T	C13135659T	NACC1	NM_052876.4(NACC1):c.452C>T:p.Ser151Leu	coding	Benign
19	13135688	C	T	C13135688T	NACC1	NM_052876.4(NACC1):c.481C>T:p.Pro161Ser	coding	Benign
19	13135694	G	A	G13135694A	NACC1	NM_052876.4(NACC1):c.487G>A:p.Val163Met	coding	Benign
19	13135702	G	A	G13135702A	NACC1	NM_052876.4(NACC1):c.495G>A:p.Arg165=	coding	Benign
19	13135741	C	T	C13135741T	NACC1	NM_052876.4(NACC1):c.534C>T:p.Cys178=	coding	Benign
19	13135792	C	T	C13135792T	NACC1	NM_052876.4(NACC1):c.585C>T:p.Gly195=	coding	Benign
19	13135796	G	A	G13135796A	NACC1	NM_052876.4(NACC1):c.589G>A:p.Gly197Ser	coding	Benign
19	13135804	C	T	C13135804T	NACC1	NM_052876.4(NACC1):c.597C>T:p.Gly199=	coding	Benign
19	13135910	G	A	G13135910A	NACC1	NM_052876.4(NACC1):c.703G>A:p.Val235Met	coding	Benign
19	13135920	G	A	G13135920A	NACC1	NM_052876.4(NACC1):c.713G>A:p.Gly238Glu	coding	Benign
19	13135931	C	T	C13135931T	NACC1	NM_052876.4(NACC1):c.724C>T:p.Pro242Ser	coding	Benign
19	13135992	C	G	C13135992G	NACC1	NM_052876.4(NACC1):c.785C>G:p.Thr262Ser	coding	Benign
19	13136164	G	A	G13136164A	NACC1	NM_052876.4(NACC1):c.946+11G>A	noncoding	Benign
19	13136425	G	T	G13136425T	NACC1	NM_052876.4(NACC1):c.1120+20G>T	noncoding	Benign
19	13137315	G	A	G13137315A	NACC1	NM_052876.4(NACC1):c.1165G>A:p.Val389Ile	coding	Benign
19	13137341	C	T	C13137341T	NACC1	NM_052876.4(NACC1):c.1191C>T:p.Val397=	coding	Benign
19	13137472	C	A	C13137472A	NACC1	NM_052876.4(NACC1):c.1227-6C>A	noncoding	Benign
19	13138128	C	T	C13138128T	NACC1	NM_052876.4(NACC1):c.1325-19C>T	noncoding	Benign
19	13138202	G	A	G13138202A	NACC1	NM_052876.4(NACC1):c.1380G>A:p.Ala460=	coding	Benign
19	13138255	A	G	A13138255G	NACC1	NM_052876.4(NACC1):c.1433A>G:p.Lys478Arg	coding	Benign
19	13138319	C	A	C13138319A	NACC1	NM_052876.4(NACC1):c.1497C>A:p.Ile499=	coding	Benign
19	13138430	A	G	A13138430G	NACC1	NM_052876.4(NACC1):c.*24A>G	noncoding	Benign
19	13139107	G	T	G13139107T	NACC1	NM_052876.4(NACC1):c.*701G>T	noncoding	Benign
19	13207166	G	T	G13207166T	CACNA1A	NM_001127222.2(CACNA1A):c.*147C>A	noncoding	Benign
19	13207394	G	C	G13207394C	CACNA1A	NM_001127222.2(CACNA1A):c.7440C>G:p.His2480Gln	coding	Benign
19	13207506	G	A	G13207506A	CACNA1A	NM_001127222.2(CACNA1A):c.7328C>T:p.Ala2443Val	coding	Benign
19	13208720	C	T	C13208720T	CACNA1A	NM_001127222.2(CACNA1A):c.6780+36G>A	noncoding	Benign
19	13208729	C	T	C13208729T	CACNA1A	NM_001127222.2(CACNA1A):c.6780+27G>A	noncoding	Benign
19	13208952	C	T	C13208952T	CACNA1A	NM_001127222.2(CACNA1A):c.6584G>A:p.Arg2195Gln	coding	Benign/Likely_benign
19	13208975	G	A	G13208975A	CACNA1A	NM_001127222.2(CACNA1A):c.6561C>T:p.Ser2187=	coding	Benign/Likely_benign
19	13209028	A	G	A13209028G	CACNA1A	NM_001127222.2(CACNA1A):c.6527-19T>C	noncoding	Benign/Likely_benign
19	13209175	T	C	T13209175C	CACNA1A	NM_001127222.2(CACNA1A):c.6526+137A>G	noncoding	Benign
19	13209188	C	G	C13209188G	CACNA1A	NM_001127222.2(CACNA1A):c.6526+124G>C	noncoding	Benign
19	13209467	G	T	G13209467T	CACNA1A	NM_001127222.2(CACNA1A):c.6371C>A:p.Ser2124Ter	coding	Pathogenic
19	13209499	C	G	C13209499G	CACNA1A	NM_001127222.2(CACNA1A):c.6340-1G>C	coding	Pathogenic
19	13210303	A	G	A13210303G	CACNA1A	NM_001127222.2(CACNA1A):c.6339+314T>C	noncoding	Benign
19	13212065	G	A	G13212065A	CACNA1A	NM_001127222.2(CACNA1A):c.6303+38C>T	noncoding	Benign
19	13212310	T	G	T13212310G	CACNA1A	NM_001127222.2(CACNA1A):c.6189+74A>C	noncoding	Benign
19	13212349	C	T	C13212349T	CACNA1A	NM_001127222.2(CACNA1A):c.6189+35G>A	noncoding	Benign
19	13212476	G	A	G13212476A	CACNA1A	NM_001127222.2(CACNA1A):c.6097C>T:p.Gln2033Ter	coding	Pathogenic
19	13212512	C	T	C13212512T	CACNA1A	NM_001127222.2(CACNA1A):c.6061G>A:p.Glu2021Lys	coding	Benign/Likely_benign
19	13212778	T	G	T13212778G	CACNA1A	NM_001127222.2(CACNA1A):c.5941-38A>C	noncoding	Benign
19	13212945	A	G	A13212945G	CACNA1A	NM_001127222.2(CACNA1A):c.5941-205T>C	noncoding	Benign
19	13214219	G	T	G13214219T	CACNA1A	NM_001127222.2(CACNA1A):c.5940+14C>A	noncoding	Benign
19	13214347	C	T	C13214347T	CACNA1A	NM_001127222.2(CACNA1A):c.5840-14G>A	noncoding	Benign/Likely_benign
19	13228603	G	T	G13228603T	CACNA1A	NM_001127222.2(CACNA1A):c.5529-1076C>A	noncoding	Benign
19	13228605	G	T	G13228605T	CACNA1A	NM_001127222.2(CACNA1A):c.5529-1078C>A	noncoding	Benign
19	13230188	C	T	C13230188T	CACNA1A	NM_001127222.2(CACNA1A):c.5422G>A:p.Val1808Ile	coding	Pathogenic/Likely_pathogenic
19	13231674	G	C	G13231674C	CACNA1A	NM_001127222.2(CACNA1A):c.5400+36C>G	noncoding	Benign
19	13231695	T	G	T13231695G	CACNA1A	NM_001127222.2(CACNA1A):c.5400+15A>C	noncoding	Benign/Likely_benign
19	13231775	G	A	G13231775A	CACNA1A	NM_001127222.2(CACNA1A):c.5335C>T:p.Arg1779Ter	coding	Pathogenic
19	13231850	C	T	C13231850T	CACNA1A	NM_001127222.2(CACNA1A):c.5260G>A:p.Gly1754Arg	coding	Pathogenic/Likely_pathogenic
19	13231887	C	T	C13231887T	CACNA1A	NM_001127222.2(CACNA1A):c.5250-27G>A	noncoding	Benign
19	13234892	A	G	A13234892G	CACNA1A	NM_001127222.2(CACNA1A):c.5249+29T>C	noncoding	Benign
19	13235323	G	A	G13235323A	CACNA1A	NM_001127222.2(CACNA1A):c.5068-49C>T	noncoding	Benign
19	13235594	C	T	C13235594T	CACNA1A	NM_001127222.2(CACNA1A):c.5067+20G>A	noncoding	Benign
19	13235684	C	G	C13235684G	CACNA1A	NM_001127222.2(CACNA1A):c.4997G>C:p.Arg1666Pro	coding	Pathogenic/Likely_pathogenic
19	13235702	C	T	C13235702T	CACNA1A	NM_001127222.2(CACNA1A):c.4979G>A:p.Arg1660His	coding	Pathogenic/Likely_pathogenic
19	13241478	G	A	G13241478A	CACNA1A	NM_001127222.2(CACNA1A):c.4950+3704C>T	noncoding	Benign
19	13241479	T	G	T13241479G	CACNA1A	NM_001127222.2(CACNA1A):c.4950+3703A>C	noncoding	Benign
19	13241565	C	T	C13241565T	CACNA1A	NM_001127222.2(CACNA1A):c.4950+3617G>A	noncoding	Benign
19	13245086	T	G	T13245086G	CACNA1A	NM_001127222.2(CACNA1A):c.4950+96A>C	noncoding	Benign
19	13245110	C	T	C13245110T	CACNA1A	NM_001127222.2(CACNA1A):c.4950+72G>A	noncoding	Benign
19	13245167	T	G	T13245167G	CACNA1A	NM_001127222.2(CACNA1A):c.4950+15A>C	noncoding	Benign
19	13252978	A	G	A13252978G	CACNA1A	NM_001127222.2(CACNA1A):c.4866+13T>C	noncoding	Benign/Likely_benign
19	13254995	T	C	T13254995C	CACNA1A	NM_001127222.2(CACNA1A):c.4755+100A>G	noncoding	Benign
19	13255049	C	T	C13255049T	CACNA1A	NM_001127222.2(CACNA1A):c.4755+46G>A	noncoding	Benign
19	13255251	G	T	G13255251T	CACNA1A	NM_001127222.2(CACNA1A):c.4599C>A:p.Cys1533Ter	coding	Pathogenic
19	13255411	T	C	T13255411C	CACNA1A	NM_001127222.2(CACNA1A):c.4591-152A>G	noncoding	Benign
19	13257166	A	G	A13257166G	CACNA1A	NM_001127222.2(CACNA1A):c.4590+184T>C	noncoding	Benign
19	13257217	T	C	T13257217C	CACNA1A	NM_001127222.2(CACNA1A):c.4590+133A>G	noncoding	Benign
19	13257419	G	T	G13257419T	CACNA1A	NM_001127222.2(CACNA1A):c.4521C>A:p.Ala1507=	coding	Benign
19	13257426	A	G	A13257426G	CACNA1A	NM_001127222.2(CACNA1A):c.4514T>C:p.Phe1505Ser	coding	Pathogenic
19	13257530	G	A	G13257530A	CACNA1A	NM_001127222.2(CACNA1A):c.4410C>T:p.Asp1470=	coding	Benign/Likely_benign
19	13259628	A	C	A13259628C	CACNA1A	NM_001127222.2(CACNA1A):c.4324T>G:p.Tyr1442Asp	coding	Pathogenic
19	13261449	C	G	C13261449G	CACNA1A	NM_001127222.2(CACNA1A):c.4250+1G>C	noncoding	Pathogenic
19	13262705	C	A	C13262705A	CACNA1A	NM_001127222.2(CACNA1A):c.4089+29G>T	noncoding	Benign
19	13262712	C	T	C13262712T	CACNA1A	NM_001127222.2(CACNA1A):c.4089+22G>A	noncoding	Benign
19	13262835	T	G	T13262835G	CACNA1A	NM_001127222.2(CACNA1A):c.3990-2A>C	noncoding	Pathogenic
19	13275971	A	G	A13275971G	CACNA1A	NM_001127222.2(CACNA1A):c.3883-15T>C	noncoding	Benign/Likely_benign
19	13277056	A	G	A13277056G	CACNA1A	NM_001127222.2(CACNA1A):c.3882+13T>C	noncoding	Benign/Likely_benign
19	13283282	G	A	G13283282A	CACNA1A	NM_001127222.2(CACNA1A):c.3807C>T:p.Asn1269=	coding	Benign
19	13283302	C	T	C13283302T	CACNA1A	NM_001127222.2(CACNA1A):c.3787G>A:p.Glu1263Lys	coding	Pathogenic
19	13283388	C	T	C13283388T	CACNA1A	NM_001127222.2(CACNA1A):c.3701G>A:p.Arg1234His	coding	Benign/Likely_benign
19	13283416	G	A	G13283416A	CACNA1A	NM_001127222.2(CACNA1A):c.3693-20C>T	noncoding	Benign/Likely_benign
19	13283645	C	T	C13283645T	CACNA1A	NM_001127222.2(CACNA1A):c.3693-249G>A	noncoding	Benign
19	13285151	C	T	C13285151T	CACNA1A	NM_001127222.2(CACNA1A):c.3609G>A:p.Glu1203=	coding	Benign/Likely_benign
19	13285296	C	T	C13285296T	CACNA1A	NM_001127222.2(CACNA1A):c.3554-90G>A	noncoding	Benign
19	13286599	G	C	G13286599C	CACNA1A	NM_001127222.2(CACNA1A):c.3457C>G:p.Gln1153Glu	coding	Benign/Likely_benign
19	13286636	G	A	G13286636A	CACNA1A	NM_001127222.2(CACNA1A):c.3420C>T:p.Pro1140=	coding	Benign/Likely_benign
19	13286647	G	C	G13286647C	CACNA1A	NM_001127222.2(CACNA1A):c.3409C>G:p.Pro1137Ala	coding	Benign/Likely_benign
19	13286748	G	A	G13286748A	CACNA1A	NM_001127222.2(CACNA1A):c.3308C>T:p.Pro1103Leu	coding	Benign/Likely_benign
19	13286939	C	A	C13286939A	CACNA1A	NM_001127222.2(CACNA1A):c.3117G>T:p.Val1039=	coding	Benign/Likely_benign
19	13298510	G	A	G13298510A	CACNA1A	NM_001127222.2(CACNA1A):c.3089+34C>T	noncoding	Benign
19	13298594	G	C	G13298594C	CACNA1A	NM_001127222.2(CACNA1A):c.3039C>G:p.Tyr1013Ter	coding	Pathogenic
19	13298594	G	T	G13298594T	CACNA1A	NM_001127222.2(CACNA1A):c.3039C>A:p.Tyr1013Ter	coding	Pathogenic
19	13298659	C	A	C13298659A	CACNA1A	NM_001127222.2(CACNA1A):c.2974G>T:p.Glu992Ter	coding	Pathogenic
19	13298869	G	A	G13298869A	CACNA1A	NM_001127222.2(CACNA1A):c.2764C>T:p.Arg922Ter	coding	Pathogenic
19	13298874	G	C	G13298874C	CACNA1A	NM_001127222.2(CACNA1A):c.2759C>G:p.Ala920Gly	coding	Benign/Likely_benign
19	13298881	C	A	C13298881A	CACNA1A	NM_001127222.2(CACNA1A):c.2752G>T:p.Gly918Cys	coding	Pathogenic
19	13298913	T	C	T13298913C	CACNA1A	NM_001127222.2(CACNA1A):c.2720A>G:p.Glu907Gly	coding	Benign
19	13299151	G	A	G13299151A	CACNA1A	NM_001127222.2(CACNA1A):c.2482C>T:p.Gln828Ter	coding	Pathogenic
19	13299232	C	A	C13299232A	CACNA1A	NM_001127222.2(CACNA1A):c.2401G>T:p.Glu801Ter	coding	Pathogenic
19	13299322	T	A	T13299322A	CACNA1A	NM_001127222.2(CACNA1A):c.2311A>T:p.Lys771Ter	coding	Pathogenic
19	13303581	C	T	C13303581T	CACNA1A	NM_001127222.2(CACNA1A):c.2137G>A:p.Val713Met	coding	Pathogenic
19	13303740	C	T	C13303740T	CACNA1A	NM_001127222.2(CACNA1A):c.2104+27G>A	noncoding	Benign
19	13303982	G	A	G13303982A	CACNA1A	NM_001127222.2(CACNA1A):c.1987-98C>T	noncoding	Benign
19	13307784	G	A	G13307784A	CACNA1A	NM_001127222.2(CACNA1A):c.1984C>T:p.Gln662Ter	coding	Pathogenic
19	13308248	G	C	G13308248C	CACNA1A	NM_001127222.2(CACNA1A):c.1785C>G:p.Tyr595Ter	coding	Pathogenic
19	13308288	G	A	G13308288A	CACNA1A	NM_001127222.2(CACNA1A):c.1782-37C>T	noncoding	Benign
19	13312509	A	G	A13312509G	CACNA1A	NM_001127222.2(CACNA1A):c.1668+160T>C	noncoding	Benign
19	13312662	C	T	C13312662T	CACNA1A	NM_001127222.2(CACNA1A):c.1668+7G>A	noncoding	Benign/Likely_benign
19	13312760	A	C	A13312760C	CACNA1A	NM_001127222.2(CACNA1A):c.1577T>G:p.Leu526Ter	coding	Pathogenic
19	13312798	G	A	G13312798A	CACNA1A	NM_001127222.2(CACNA1A):c.1556-17C>T	noncoding	Benign
19	13317052	G	A	G13317052A	CACNA1A	NM_001127222.2(CACNA1A):c.1555+60C>T	noncoding	Benign
19	13330546	T	C	T13330546C	CACNA1A	NM_001127222.2(CACNA1A):c.1256-213A>G	noncoding	Benign
19	13332831	C	T	C13332831T	CACNA1A	NM_001127222.2(CACNA1A):c.1255+38G>A	noncoding	Benign
19	13332956	T	C	T13332956C	CACNA1A	NM_001127222.2(CACNA1A):c.1199-31A>G	noncoding	Benign
19	13334593	T	G	T13334593G	CACNA1A	NM_001127222.2(CACNA1A):c.1083-100A>C	noncoding	Benign
19	13334597	G	T	G13334597T	CACNA1A	NM_001127222.2(CACNA1A):c.1083-104C>A	noncoding	Benign
19	13335624	C	T	C13335624T	CACNA1A	NM_001127222.2(CACNA1A):c.1082+182G>A	noncoding	Benign
19	13335759	A	G	A13335759G	CACNA1A	NM_001127222.2(CACNA1A):c.1082+47T>C	noncoding	Benign
19	13335884	C	T	C13335884T	CACNA1A	NM_001127222.2(CACNA1A):c.1004G>A:p.Trp335Ter	coding	Pathogenic
19	13335919	G	T	G13335919T	CACNA1A	NM_001127222.2(CACNA1A):c.979-10C>A	noncoding	Benign/Likely_benign
19	13335949	G	C	G13335949C	CACNA1A	NM_001127222.2(CACNA1A):c.979-40C>G	noncoding	Benign
19	13359502	C	T	C13359502T	CACNA1A	NM_001127222.2(CACNA1A):c.978+104G>A	noncoding	Benign
19	13359758	C	A	C13359758A	CACNA1A	NM_001127222.2(CACNA1A):c.826G>T:p.Glu276Ter	coding	Pathogenic
19	13359769	C	T	C13359769T	CACNA1A	NM_001127222.2(CACNA1A):c.815G>A:p.Cys272Tyr	coding	Pathogenic/Likely_pathogenic
19	13365446	T	C	T13365446C	CACNA1A	NM_001127222.2(CACNA1A):c.655A>G:p.Ile219Val	coding	Pathogenic
19	13371714	G	A	G13371714A	CACNA1A	NM_001127222.2(CACNA1A):c.605C>T:p.Pro202Leu	coding	Pathogenic/Likely_pathogenic
19	13371809	G	C	G13371809C	CACNA1A	NM_001127222.2(CACNA1A):c.540-30C>G	noncoding	Benign
19	13452908	C	T	C13452908T	CACNA1A	NM_001127222.2(CACNA1A):c.507G>A:p.Trp169Ter	coding	Pathogenic
19	13455185	G	A	G13455185A	CACNA1A	NM_001127222.2(CACNA1A):c.321C>T:p.Thr107=	coding	Benign
19	13455188	G	A	G13455188A	CACNA1A	NM_001127222.2(CACNA1A):c.318C>T:p.Ala106=	coding	Benign
19	13772285	A	G	A13772285G	MRI1	NM_001031727.4(MRI1):c.*4A>G	noncoding	Benign
19	13918535	G	A	G13918535A	CC2D1A	NM_017721.5(CC2D1A):c.905G>A:p.Arg302Gln	coding	Benign/Likely_benign
19	13923456	G	C	G13923456C	CC2D1A	NM_017721.5(CC2D1A):c.1764+1G>C	coding	Pathogenic
19	13927923	C	T	C13927923T	CC2D1A	NM_017721.5(CC2D1A):c.2347C>T:p.Arg783Ter	coding	Pathogenic
19	13928016	G	T	G13928016T	CC2D1A	NM_017721.5(CC2D1A):c.2440G>T:p.Ala814Ser	coding	Benign/Likely_benign
19	14100836	C	T	C14100836T	PRKACA	NM_002730.4(PRKACA):c.409G>A:p.Gly137Arg	coding	Pathogenic/Likely_pathogenic
19	14152520	G	A	G14152520A	ADGRL1	NM_014921.5(ADGRL1):c.3517C>T:p.Arg1173Ter	coding	Pathogenic
19	14152561	G	A	G14152561A	ADGRL1	NM_014921.5(ADGRL1):c.3476C>T:p.Ser1159Phe	coding	Pathogenic
19	14152597	A	G	A14152597G	ADGRL1	NM_014921.5(ADGRL1):c.3440T>C:p.Met1147Thr	coding	Pathogenic
19	14152816	G	A	G14152816A	ADGRL1	NM_014921.5(ADGRL1):c.3391C>T:p.Arg1131Ter	coding	Pathogenic
19	14156693	A	G	A14156693G	ADGRL1	NM_014921.5(ADGRL1):c.2998T>C:p.Trp1000Arg	coding	Pathogenic
19	14162982	C	T	C14162982T	ADGRL1	NM_014921.5(ADGRL1):c.819G>A:p.Trp273Ter	coding	Pathogenic
19	14743507	C	T	C14743507T	ADGRE2	NM_013447.4(ADGRE2):c.2376G>A:p.Trp792Ter	coding	Benign
19	14743702	C	A	C14743702A	ADGRE2	NM_013447.4(ADGRE2):c.2266G>T:p.Ala756Ser	coding	Benign
19	14743733	C	T	C14743733T	ADGRE2	NM_013447.4(ADGRE2):c.2235G>A:p.Trp745Ter	coding	Benign
19	14746241	C	T	C14746241T	ADGRE2	NM_013447.4(ADGRE2):c.2174G>A:p.Arg725Gln	coding	Benign
19	14746277	C	A	C14746277A	ADGRE2	NM_013447.4(ADGRE2):c.2138G>T:p.Arg713Ile	coding	Benign
19	14751584	G	A	G14751584A	ADGRE2	NM_013447.4(ADGRE2):c.1876C>T:p.Leu626Phe	coding	Benign
19	14751611	T	A	T14751611A	ADGRE2	NM_013447.4(ADGRE2):c.1849A>T:p.Met617Leu	coding	Benign
19	14751655	A	G	A14751655G	ADGRE2	NM_013447.4(ADGRE2):c.1805T>C:p.Ile602Thr	coding	Benign
19	14752337	C	A	C14752337A	ADGRE2	NM_013447.4(ADGRE2):c.1780G>T:p.Gly594Ter	coding	Benign
19	14755003	C	A	C14755003A	ADGRE2	NM_013447.4(ADGRE2):c.1541G>T:p.Cys514Phe	coding	Benign
19	14755013	T	C	T14755013C	ADGRE2	NM_013447.4(ADGRE2):c.1531A>G:p.Ile511Val	coding	Benign
19	14755090	C	T	C14755090T	ADGRE2	NM_013447.4(ADGRE2):c.1454G>A:p.Trp485Ter	coding	Benign
19	14755840	C	T	C14755840T	ADGRE2	NM_013447.4(ADGRE2):c.1230G>A:p.Met410Ile	coding	Benign
19	14755869	C	T	C14755869T	ADGRE2	NM_013447.4(ADGRE2):c.1201G>A:p.Val401Met	coding	Benign
19	14765694	C	T	C14765694T	ADGRE2	NM_013447.4(ADGRE2):c.745G>A:p.Gly249Arg	coding	Benign
19	14765708	C	G	C14765708G	ADGRE2	NM_013447.4(ADGRE2):c.731G>C:p.Trp244Ser	coding	Benign
19	14765724	G	A	G14765724A	ADGRE2	NM_013447.4(ADGRE2):c.715C>T:p.Arg239Cys	coding	Benign
19	14765742	C	T	C14765742T	ADGRE2	NM_013447.4(ADGRE2):c.697G>A:p.Val233Met	coding	Benign
19	14765806	T	G	T14765806G	ADGRE2	NM_013447.4(ADGRE2):c.635-2A>C	noncoding	Benign
19	14766285	C	T	C14766285T	ADGRE2	NM_013447.4(ADGRE2):c.584G>A:p.Trp195Ter	coding	Benign
19	14766345	T	G	T14766345G	ADGRE2	NM_013447.4(ADGRE2):c.524A>C:p.His175Pro	coding	Benign
19	14766371	T	G	T14766371G	ADGRE2	NM_013447.4(ADGRE2):c.498A>C:p.Glu166Asp	coding	Benign
19	14767025	C	A	C14767025A	ADGRE2	NM_013447.4(ADGRE2):c.440G>T:p.Cys147Phe	coding	Benign
19	14767028	T	G	T14767028G	ADGRE2	NM_013447.4(ADGRE2):c.437A>C:p.Gln146Pro	coding	Benign
19	14767101	C	T	C14767101T	ADGRE2	NM_013447.4(ADGRE2):c.364G>A:p.Glu122Lys	coding	Benign
19	14772342	C	G	C14772342G	ADGRE2	NM_013447.4(ADGRE2):c.355G>C:p.Asp119His	coding	Benign
19	14772384	C	T	C14772384T	ADGRE2	NM_013447.4(ADGRE2):c.313G>A:p.Gly105Arg	coding	Benign
19	14772449	G	A	G14772449A	ADGRE2	NM_013447.4(ADGRE2):c.248C>T:p.Ser83Leu	coding	Benign
19	14772489	C	T	C14772489T	ADGRE2	NM_013447.4(ADGRE2):c.208G>A:p.Glu70Lys	coding	Benign
19	14773999	G	T	G14773999T	ADGRE2	NM_013447.4(ADGRE2):c.138C>A:p.Arg46=	coding	Benign
19	14774000	C	T	C14774000T	ADGRE2	NM_013447.4(ADGRE2):c.137G>A:p.Arg46His	coding	Benign
19	14774265	C	T	C14774265T	ADGRE2	NM_013447.4(ADGRE2):c.73G>A:p.Asp25Asn	coding	Benign
19	15051944	C	T	C15051944T	CASP14	NM_012114.3(CASP14):c.-46-262C>T	noncoding	Benign
19	15051947	A	G	A15051947G	CASP14	NM_012114.3(CASP14):c.-46-259A>G	noncoding	Benign
19	15052105	T	A	T15052105A	CASP14	NM_012114.3(CASP14):c.-46-101T>A	noncoding	Benign
19	15053211	T	G	T15053211G	CASP14	NM_012114.3(CASP14):c.28-271T>G	noncoding	Benign
19	15053309	T	C	T15053309C	CASP14	NM_012114.3(CASP14):c.28-173T>C	noncoding	Benign
19	15055351	T	C	T15055351C	CASP14	NM_012114.3(CASP14):c.520+77T>C	noncoding	Benign
19	15055757	G	C	G15055757C	CASP14	NM_012114.3(CASP14):c.624+224G>C	noncoding	Benign
19	15055867	A	G	A15055867G	CASP14	NM_012114.3(CASP14):c.625-118A>G	noncoding	Benign
19	15055951	G	T	G15055951T	CASP14	NM_012114.3(CASP14):c.625-34G>T	noncoding	Benign
19	15056186	C	T	C15056186T	CASP14	NM_012114.3(CASP14):c.*97C>T	noncoding	Benign
19	15056277	A	G	A15056277G	CASP14	NM_012114.3(CASP14):c.*188A>G	noncoding	Benign
19	15056317	G	T	G15056317T	CASP14	NM_012114.3(CASP14):c.*228G>T	noncoding	Benign
19	15056336	T	C	T15056336C	CASP14	NM_012114.3(CASP14):c.*247T>C	noncoding	Benign
19	15160659	G	A	G15160659A	NOTCH3	NM_000435.3(NOTCH3):c.*3C>T	noncoding	Benign/Likely_benign
19	15161328	C	T	C15161328T	NOTCH3	NM_000435.3(NOTCH3):c.6300G>A:p.Ser2100=	coding	Benign/Likely_benign
19	15161604	C	T	C15161604T	NOTCH3	NM_000435.3(NOTCH3):c.6024G>A:p.Pro2008=	coding	Benign/Likely_benign
19	15161618	G	A	G15161618A	NOTCH3	NM_000435.3(NOTCH3):c.6010C>T:p.Leu2004=	coding	Benign
19	15161691	G	A	G15161691A	NOTCH3	NM_000435.3(NOTCH3):c.5937C>T:p.Ala1979=	coding	Benign
19	15161922	G	A	G15161922A	NOTCH3	NM_000435.3(NOTCH3):c.5914-208C>T	noncoding	Benign
19	15162410	T	C	T15162410C	NOTCH3	NM_000435.3(NOTCH3):c.5913+55A>G	noncoding	Benign
19	15162420	A	G	A15162420G	NOTCH3	NM_000435.3(NOTCH3):c.5913+45T>C	noncoding	Benign
19	15162813	T	C	T15162813C	NOTCH3	NM_000435.3(NOTCH3):c.5816-251A>G	noncoding	Benign
19	15165196	C	A	C15165196A	NOTCH3	NM_000435.3(NOTCH3):c.5815+172G>T	noncoding	Benign
19	15165244	C	G	C15165244G	NOTCH3	NM_000435.3(NOTCH3):c.5815+124G>C	noncoding	Benign
19	15165524	G	C	G15165524C	NOTCH3	NM_000435.3(NOTCH3):c.5668-9C>G	noncoding	Benign/Likely_benign
19	15165944	C	T	C15165944T	NOTCH3	NM_000435.3(NOTCH3):c.5510G>A:p.Arg1837His	coding	Benign
19	15166195	T	C	T15166195C	NOTCH3	NM_000435.3(NOTCH3):c.5363-104A>G	noncoding	Benign
19	15166198	C	T	C15166198T	NOTCH3	NM_000435.3(NOTCH3):c.5363-107G>A	noncoding	Benign
19	15166199	A	G	A15166199G	NOTCH3	NM_000435.3(NOTCH3):c.5363-108T>C	noncoding	Benign
19	15166216	G	A	G15166216A	NOTCH3	NM_000435.3(NOTCH3):c.5363-125C>T	noncoding	Benign
19	15166959	A	C	A15166959C	NOTCH3	NM_000435.3(NOTCH3):c.5362+290T>G	noncoding	Benign
19	15167081	T	G	T15167081G	NOTCH3	NM_000435.3(NOTCH3):c.5362+168A>C	noncoding	Benign
19	15167127	C	T	C15167127T	NOTCH3	NM_000435.3(NOTCH3):c.5362+122G>A	noncoding	Benign
19	15167327	C	T	C15167327T	NOTCH3	NM_000435.3(NOTCH3):c.5284G>A:p.Val1762Met	coding	Benign/Likely_benign
19	15169865	G	A	G15169865A	NOTCH3	NM_000435.3(NOTCH3):c.5199+221C>T	noncoding	Benign
19	15169954	A	G	A15169954G	NOTCH3	NM_000435.3(NOTCH3):c.5199+132T>C	noncoding	Benign
19	15170066	G	A	G15170066A	NOTCH3	NM_000435.3(NOTCH3):c.5199+20C>T	noncoding	Benign
19	15170156	C	T	C15170156T	NOTCH3	NM_000435.3(NOTCH3):c.5129G>A:p.Gly1710Asp	coding	Benign/Likely_benign
19	15170687	T	G	T15170687G	NOTCH3	NM_000435.3(NOTCH3):c.4875A>C:p.Pro1625=	coding	Benign/Likely_benign
19	15170693	C	G	C15170693G	NOTCH3	NM_000435.3(NOTCH3):c.4869G>C:p.Pro1623=	coding	Benign/Likely_benign
19	15170704	G	A	G15170704A	NOTCH3	NM_000435.3(NOTCH3):c.4858C>T:p.Leu1620=	coding	Benign/Likely_benign
19	15173800	A	C	A15173800C	NOTCH3	NM_000435.3(NOTCH3):c.4736+268T>G	noncoding	Benign
19	15174461	T	C	T15174461C	NOTCH3	NM_000435.3(NOTCH3):c.4404-61A>G	noncoding	Benign
19	15177875	G	A	G15177875A	NOTCH3	NM_000435.3(NOTCH3):c.4053C>T:p.Arg1351=	coding	Benign/Likely_benign
19	15178003	G	A	G15178003A	NOTCH3	NM_000435.3(NOTCH3):c.3925C>T:p.Arg1309Cys	coding	Pathogenic
19	15178117	G	A	G15178117A	NOTCH3	NM_000435.3(NOTCH3):c.3838-27C>T	noncoding	Benign
19	15179114	C	T	C15179114T	NOTCH3	NM_000435.3(NOTCH3):c.3629G>A:p.Arg1210His	coding	Benign
19	15179220	G	A	G15179220A	NOTCH3	NM_000435.3(NOTCH3):c.3523C>T:p.Arg1175Trp	coding	Benign/Likely_benign
19	15179415	A	G	A15179415G	NOTCH3	NM_000435.3(NOTCH3):c.3409T>C:p.Cys1137Arg	coding	Pathogenic
19	15179601	G	A	G15179601A	NOTCH3	NM_000435.3(NOTCH3):c.3328-105C>T	noncoding	Benign
19	15180048	C	G	C15180048G	NOTCH3	NM_000435.3(NOTCH3):c.3327+24G>C	noncoding	Benign
19	15180062	G	A	G15180062A	NOTCH3	NM_000435.3(NOTCH3):c.3327+10C>T	noncoding	Benign
19	15180100	C	T	C15180100T	NOTCH3	NM_000435.3(NOTCH3):c.3299G>A:p.Arg1100His	coding	Benign/Likely_benign
19	15180834	G	A	G15180834A	NOTCH3	NM_000435.3(NOTCH3):c.2995-6C>T	noncoding	Benign/Likely_benign
19	15180888	T	C	T15180888C	NOTCH3	NM_000435.3(NOTCH3):c.2995-60A>G	noncoding	Benign
19	15180992	C	T	C15180992T	NOTCH3	NM_000435.3(NOTCH3):c.2963G>A:p.Cys988Tyr	coding	Pathogenic
19	15181277	G	C	G15181277C	NOTCH3	NM_000435.3(NOTCH3):c.2793-115C>G	noncoding	Benign
19	15181460	C	T	C15181460T	NOTCH3	NM_000435.3(NOTCH3):c.2792+116G>A	noncoding	Benign
19	15181468	G	A	G15181468A	NOTCH3	NM_000435.3(NOTCH3):c.2792+108C>T	noncoding	Benign
19	15184180	C	T	C15184180T	NOTCH3	NM_000435.3(NOTCH3):c.2566+115G>A	noncoding	Benign
19	15184200	T	C	T15184200C	NOTCH3	NM_000435.3(NOTCH3):c.2566+95A>G	noncoding	Benign
19	15184271	C	A	C15184271A	NOTCH3	NM_000435.3(NOTCH3):c.2566+24G>T	noncoding	Benign/Likely_benign
19	15184461	G	T	G15184461T	NOTCH3	NM_000435.3(NOTCH3):c.2411-11C>A	noncoding	Benign/Likely_benign
19	15186765	C	T	C15186765T	NOTCH3	NM_000435.3(NOTCH3):c.1951+113G>A	noncoding	Benign
19	15186980	A	G	A15186980G	NOTCH3	NM_000435.3(NOTCH3):c.1849T>C:p.Cys617Arg	coding	Pathogenic
19	15187171	G	A	G15187171A	NOTCH3	NM_000435.3(NOTCH3):c.1774C>T:p.Arg592Cys	coding	Pathogenic/Likely_pathogenic
19	15187209	C	T	C15187209T	NOTCH3	NM_000435.3(NOTCH3):c.1736G>A:p.Cys579Tyr	coding	Pathogenic
19	15187213	G	A	G15187213A	NOTCH3	NM_000435.3(NOTCH3):c.1732C>T:p.Arg578Cys	coding	Pathogenic/Likely_pathogenic
19	15187253	G	A	G15187253A	NOTCH3	NM_000435.3(NOTCH3):c.1692C>T:p.Ala564=	coding	Benign/Likely_benign
19	15187276	C	A	C15187276A	NOTCH3	NM_000435.3(NOTCH3):c.1669G>T:p.Gly557Cys	coding	Pathogenic
19	15187459	A	G	A15187459G	NOTCH3	NM_000435.3(NOTCH3):c.1607-121T>C	noncoding	Benign
19	15187465	A	G	A15187465G	NOTCH3	NM_000435.3(NOTCH3):c.1607-127T>C	noncoding	Benign
19	15187896	A	C	A15187896C	NOTCH3	NM_000435.3(NOTCH3):c.1591T>G:p.Cys531Gly	coding	Pathogenic
19	15187940	C	A	C15187940A	NOTCH3	NM_000435.3(NOTCH3):c.1547G>T:p.Cys516Phe	coding	Pathogenic
19	15188235	C	A	C15188235A	NOTCH3	NM_000435.3(NOTCH3):c.1492G>T:p.Gly498Cys	coding	Pathogenic
19	15188837	T	C	T15188837C	NOTCH3	NM_000435.3(NOTCH3):c.1378+152A>G	noncoding	Benign
19	15189064	A	G	A15189064G	NOTCH3	NM_000435.3(NOTCH3):c.1303T>C:p.Cys435Arg	coding	Pathogenic
19	15189126	G	C	G15189126C	NOTCH3	NM_000435.3(NOTCH3):c.1241C>G:p.Ser414Cys	coding	Pathogenic
19	15191450	T	C	T15191450C	NOTCH3	NM_000435.3(NOTCH3):c.1010A>G:p.Tyr337Cys	coding	Pathogenic
19	15191464	G	A	G15191464A	NOTCH3	NM_000435.3(NOTCH3):c.996C>T:p.Arg332=	coding	Benign
19	15191474	C	T	C15191474T	NOTCH3	NM_000435.3(NOTCH3):c.986G>A:p.Cys329Tyr	coding	Pathogenic
19	15191493	A	T	A15191493T	NOTCH3	NM_000435.3(NOTCH3):c.967T>A:p.Cys323Ser	coding	Pathogenic
19	15191497	G	A	G15191497A	NOTCH3	NM_000435.3(NOTCH3):c.963C>T:p.Ala321=	coding	Benign/Likely_benign
19	15191507	C	T	C15191507T	NOTCH3	NM_000435.3(NOTCH3):c.953G>A:p.Cys318Tyr	coding	Pathogenic
19	15191645	G	A	G15191645A	NOTCH3	NM_000435.3(NOTCH3):c.815C>T:p.Thr272Met	coding	Benign
19	15191649	A	G	A15191649G	NOTCH3	NM_000435.3(NOTCH3):c.811T>C:p.Cys271Arg	coding	Pathogenic
19	15191768	C	A	C15191768A	NOTCH3	NM_000435.3(NOTCH3):c.779G>T:p.Cys260Phe	coding	Pathogenic
19	15191838	C	T	C15191838T	NOTCH3	NM_000435.3(NOTCH3):c.709G>A:p.Val237Met	coding	Benign/Likely_benign
19	15191848	A	C	A15191848C	NOTCH3	NM_000435.3(NOTCH3):c.699T>G:p.Cys233Trp	coding	Pathogenic
19	15192058	C	A	C15192058A	NOTCH3	NM_000435.3(NOTCH3):c.581G>T:p.Cys194Phe	coding	Pathogenic
19	15192058	C	T	C15192058T	NOTCH3	NM_000435.3(NOTCH3):c.581G>A:p.Cys194Tyr	coding	Pathogenic
19	15192073	T	C	T15192073C	NOTCH3	NM_000435.3(NOTCH3):c.566A>G:p.Tyr189Cys	coding	Pathogenic
19	15192092	A	T	A15192092T	NOTCH3	NM_000435.3(NOTCH3):c.547T>A:p.Cys183Ser	coding	Pathogenic
19	15192103	C	A	C15192103A	NOTCH3	NM_000435.3(NOTCH3):c.536G>T:p.Gly179Val	coding	Benign/Likely_benign
19	15192155	A	G	A15192155G	NOTCH3	NM_000435.3(NOTCH3):c.484T>C:p.Cys162Arg	coding	Pathogenic
19	15192271	C	A	C15192271A	NOTCH3	NM_000435.3(NOTCH3):c.368G>T:p.Cys123Phe	coding	Pathogenic
19	15192300	T	C	T15192300C	NOTCH3	NM_000435.3(NOTCH3):c.341-2A>G	noncoding	Pathogenic
19	15192363	T	C	T15192363C	NOTCH3	NM_000435.3(NOTCH3):c.340+14A>G	noncoding	Benign/Likely_benign
19	15192473	A	G	A15192473G	NOTCH3	NM_000435.3(NOTCH3):c.244T>C:p.Cys82Arg	coding	Pathogenic
19	15197257	T	C	T15197257C	NOTCH3	NM_000435.3(NOTCH3):c.197+243A>G	noncoding	Benign
19	15197285	G	A	G15197285A	NOTCH3	NM_000435.3(NOTCH3):c.197+215C>T	noncoding	Benign
19	15197454	G	C	G15197454C	NOTCH3	NM_000435.3(NOTCH3):c.197+46C>G	noncoding	Benign
19	15197577	G	C	G15197577C	NOTCH3	NM_000435.3(NOTCH3):c.120C>G:p.Ala40=	coding	Benign/Likely_benign
19	15201008	G	T	G15201008T	NOTCH3	Single_allele	noncoding	Benign
19	15201184	T	G	T15201184G	NOTCH3	Single_allele	noncoding	Benign
19	15201219	C	A	C15201219A	NOTCH3	Single_allele	noncoding	Benign
19	15238742	C	T	C15238742T	BRD4	NM_001379291.1(BRD4):c.4020+1G>A	noncoding	Pathogenic
19	15239556	C	T	C15239556T	BRD4	NM_001379291.1(BRD4):c.3446-34G>A	noncoding	Benign
19	15239783	G	A	G15239783A	BRD4	NM_001379291.1(BRD4):c.3321C>T:p.Leu1107=	coding	Benign
19	15239814	C	T	C15239814T	BRD4	NM_001379291.1(BRD4):c.3290G>A:p.Arg1097His	coding	Benign/Likely_benign
19	15243204	T	G	T15243204G	BRD4	NM_001379291.1(BRD4):c.2865A>C:p.Pro955=	coding	Benign
19	15244573	G	A	G15244573A	BRD4	NM_001379291.1(BRD4):c.2239C>T:p.Gln747Ter	coding	Pathogenic
19	15245809	T	A	T15245809A	BRD4	NM_001379291.1(BRD4):c.2159-1047A>T	noncoding	Benign
19	15246401	G	A	G15246401A	BRD4	NM_001379291.1(BRD4):c.2159-1639C>T	noncoding	Benign
19	15246578	G	A	G15246578A	BRD4	NM_001379291.1(BRD4):c.2159-1816C>T	noncoding	Benign
19	15248333	T	G	T15248333G	BRD4	NM_001379291.1(BRD4):c.2159-3571A>C	coding	Benign
19	15251244	T	A	T15251244A	BRD4	NM_001379291.1(BRD4):c.2158+2908A>T	noncoding	Benign
19	15251860	G	A	G15251860A	BRD4	NM_001379291.1(BRD4):c.2158+2292C>T	noncoding	Benign
19	15253385	C	T	C15253385T	BRD4	NM_001379291.1(BRD4):c.2158+767G>A	noncoding	Benign
19	15255394	G	A	G15255394A	BRD4	NM_001379291.1(BRD4):c.1950C>T:p.Asp650=	coding	Benign
19	15257281	G	A	G15257281A	BRD4	NM_001379291.1(BRD4):c.1342-108C>T	noncoding	Benign
19	15257317	G	A	G15257317A	BRD4	NM_001379291.1(BRD4):c.1342-144C>T	noncoding	Benign
19	15272705	C	T	C15272705T	BRD4	NM_001379291.1(BRD4):c.285+110G>A	noncoding	Benign
19	15272771	C	A	C15272771A	BRD4	NM_001379291.1(BRD4):c.285+44G>T	noncoding	Benign
19	15458567	G	C	G15458567C	RASAL3	NM_022904.3(RASAL3):c.751C>G:p.Leu251Val	coding	Benign
19	15525307	A	G	A15525307G	CYP4F22	NM_173483.4(CYP4F22):c.-1-29A>G	noncoding	Benign
19	15525513	C	G	C15525513G	CYP4F22	NM_173483.4(CYP4F22):c.177C>G:p.Phe59Leu	coding	Pathogenic/Likely_pathogenic
19	15529477	G	T	G15529477T	CYP4F22	NM_173483.4(CYP4F22):c.223-232G>T	noncoding	Benign
19	15529782	G	A	G15529782A	CYP4F22	NM_173483.4(CYP4F22):c.296G>A:p.Trp99Ter	coding	Pathogenic
19	15530161	G	A	G15530161A	CYP4F22	NM_173483.4(CYP4F22):c.367+308G>A	noncoding	Benign
19	15537337	C	T	C15537337T	CYP4F22	NM_173483.4(CYP4F22):c.368-24C>T	noncoding	Benign
19	15538056	G	T	G15538056T	CYP4F22	NM_173483.4(CYP4F22):c.671+63G>T	noncoding	Benign
19	15540740	T	G	T15540740G	CYP4F22	NM_173483.4(CYP4F22):c.939+23T>G	noncoding	Benign
19	15540742	C	G	C15540742G	CYP4F22	NM_173483.4(CYP4F22):c.939+25C>G	noncoding	Benign
19	15540749	C	G	C15540749G	CYP4F22	NM_173483.4(CYP4F22):c.939+32C>G	noncoding	Benign
19	15540753	A	T	A15540753T	CYP4F22	NM_173483.4(CYP4F22):c.939+36A>T	noncoding	Benign
19	15540757	C	A	C15540757A	CYP4F22	NM_173483.4(CYP4F22):c.939+40C>A	noncoding	Benign
19	15540864	C	T	C15540864T	CYP4F22	NM_173483.4(CYP4F22):c.939+147C>T	noncoding	Benign
19	15544342	C	G	C15544342G	CYP4F22	NM_173483.4(CYP4F22):c.1136+63C>G	noncoding	Benign
19	15544357	C	T	C15544357T	CYP4F22	NM_173483.4(CYP4F22):c.1136+78C>T	noncoding	Benign
19	15544499	A	G	A15544499G	CYP4F22	NM_173483.4(CYP4F22):c.1136+220A>G	noncoding	Benign
19	15547996	G	A	G15547996A	CYP4F22	NM_173483.4(CYP4F22):c.1137-112G>A	noncoding	Benign
19	15548000	A	T	A15548000T	CYP4F22	NM_173483.4(CYP4F22):c.1137-108A>T	noncoding	Benign
19	15548002	A	T	A15548002T	CYP4F22	NM_173483.4(CYP4F22):c.1137-106A>T	noncoding	Benign
19	15550733	T	A	T15550733A	CYP4F22	NM_173483.4(CYP4F22):c.1395T>A:p.Tyr465Ter	coding	Pathogenic
19	15551065	A	G	A15551065G	CYP4F22	NM_173483.4(CYP4F22):c.1419-229A>G	noncoding	Benign
19	16324634	G	A	G16324634A	KLF2	Single_allele	noncoding	Benign
19	16325042	C	T	C16325042T	KLF2	NM_016270.4(KLF2):c.75+44C>T	noncoding	Benign
19	16325451	T	C	T16325451C	KLF2	NM_016270.4(KLF2):c.311T>C:p.Leu104Pro	coding	Benign
19	16327202	C	A	C16327202A	KLF2	NM_016270.4(KLF2):c.*171C>A	noncoding	Benign
19	16478939	T	C	T16478939C	CALR3	Single_allele	noncoding	Benign
19	16478996	A	G	A16478996G	CALR3	Single_allele	noncoding	Benign
19	16482392	A	G	A16482392G	CALR3	NM_145046.5(CALR3):c.918+58T>C	noncoding	Benign
19	16482604	G	A	G16482604A	CALR3	NM_145046.5(CALR3):c.787-23C>T	noncoding	Benign
19	16484156	A	G	A16484156G	CALR3	NM_145046.5(CALR3):c.493-41T>C	noncoding	Benign
19	16485261	C	T	C16485261T	CALR3	NM_145046.5(CALR3):c.398-4G>A	noncoding	Benign
19	16490343	T	C	T16490343C	CALR3	NM_145046.5(CALR3):c.397+24A>G	noncoding	Benign
19	16490600	A	T	A16490600T	CALR3	NM_145046.5(CALR3):c.194-30T>A	noncoding	Benign
19	16490660	A	G	A16490660G	CALR3	NM_145046.5(CALR3):c.194-90T>C	noncoding	Benign
19	16495734	C	T	C16495734T	CALR3	NM_145046.5(CALR3):c.193+17G>A	noncoding	Benign
19	16495931	G	C	G16495931C	CALR3	NM_145046.5(CALR3):c.92-79C>G	noncoding	Benign
19	16495955	G	C	G16495955C	CALR3	NM_145046.5(CALR3):c.91+84C>G	noncoding	Benign
19	16496310	C	T	C16496310T	CALR3	Single_allele	noncoding	Benign
19	16496422	G	C	G16496422C	CALR3	NM_032207.4(C19orf44):c.-45G>C	noncoding	Benign
19	16496494	A	G	A16496494G	CALR3	NM_032207.4(C19orf44):c.-2+29A>G	noncoding	Benign
19	16877645	A	G	A16877645G	SIN3B	NM_001297595.2(SIN3B):c.2954+6A>G	noncoding	Benign
19	16889821	G	A	G16889821A	F2RL3	NM_003950.4(F2RL3):c.358G>A:p.Ala120Thr	coding	Benign
19	16892978	T	G	T16892978G	CPAMD8	NM_015692.5(CPAMD8):c.*130A>C	noncoding	Benign
19	16893238	T	C	T16893238C	CPAMD8	NM_015692.5(CPAMD8):c.5528A>G:p.Gln1843Arg	coding	Benign
19	16895976	G	A	G16895976A	CPAMD8	NM_015692.5(CPAMD8):c.5426+200C>T	noncoding	Benign
19	16896136	A	C	A16896136C	CPAMD8	NM_015692.5(CPAMD8):c.5426+40T>G	noncoding	Benign
19	16896253	C	T	C16896253T	CPAMD8	NM_015692.5(CPAMD8):c.5349G>A:p.Gln1783=	coding	Benign
19	16896552	C	T	C16896552T	CPAMD8	NM_015692.5(CPAMD8):c.5179G>A:p.Asp1727Asn	coding	Benign
19	16897767	G	C	G16897767C	CPAMD8	NM_015692.5(CPAMD8):c.4989C>G:p.Thr1663=	coding	Benign
19	16903908	T	C	T16903908C	CPAMD8	NM_015692.5(CPAMD8):c.4252-51A>G	noncoding	Benign
19	16903932	A	C	A16903932C	CPAMD8	NM_015692.5(CPAMD8):c.4252-75T>G	noncoding	Benign
19	16904061	G	A	G16904061A	CPAMD8	NM_015692.5(CPAMD8):c.4251+165C>T	noncoding	Benign
19	16904610	C	G	C16904610G	CPAMD8	NM_015692.5(CPAMD8):c.4028-58G>C	noncoding	Benign
19	16904618	G	A	G16904618A	CPAMD8	NM_015692.5(CPAMD8):c.4028-66C>T	noncoding	Benign
19	16904689	G	A	G16904689A	CPAMD8	NM_015692.5(CPAMD8):c.4028-137C>T	noncoding	Benign
19	16907068	G	A	G16907068A	CPAMD8	NM_015692.5(CPAMD8):c.3911C>T:p.Ala1304Val	coding	Benign
19	16907281	C	G	C16907281G	CPAMD8	NM_015692.5(CPAMD8):c.3862-164G>C	noncoding	Benign
19	16914482	G	A	G16914482A	CPAMD8	NM_015692.5(CPAMD8):c.3803C>T:p.Thr1268Ile	coding	Benign
19	16914501	G	A	G16914501A	CPAMD8	NM_015692.5(CPAMD8):c.3787-3C>T	noncoding	Benign
19	16921740	A	G	A16921740G	CPAMD8	NM_015692.5(CPAMD8):c.3629+165T>C	noncoding	Benign
19	16921749	T	C	T16921749C	CPAMD8	NM_015692.5(CPAMD8):c.3629+156A>G	noncoding	Benign
19	16922159	T	C	T16922159C	CPAMD8	NM_015692.5(CPAMD8):c.3548-173A>G	noncoding	Benign
19	16925088	C	A	C16925088A	CPAMD8	NM_015692.5(CPAMD8):c.3547+108G>T	noncoding	Benign
19	16925277	C	T	C16925277T	CPAMD8	NM_015692.5(CPAMD8):c.3466G>A:p.Val1156Ile	coding	Benign
19	16925385	A	T	A16925385T	CPAMD8	NM_015692.5(CPAMD8):c.3371-13T>A	noncoding	Benign
19	16928263	G	A	G16928263A	CPAMD8	NM_015692.5(CPAMD8):c.3145-29C>T	noncoding	Benign
19	16928825	T	C	T16928825C	CPAMD8	NM_015692.5(CPAMD8):c.3144+117A>G	noncoding	Benign
19	16928853	T	C	T16928853C	CPAMD8	NM_015692.5(CPAMD8):c.3144+89A>G	noncoding	Benign
19	16928888	G	A	G16928888A	CPAMD8	NM_015692.5(CPAMD8):c.3144+54C>T	noncoding	Benign
19	16938420	G	C	G16938420C	CPAMD8	NM_015692.5(CPAMD8):c.2820C>G:p.Thr940=	coding	Benign
19	16938435	G	A	G16938435A	CPAMD8	NM_015692.5(CPAMD8):c.2805C>T:p.Val935=	coding	Benign
19	16945335	G	A	G16945335A	CPAMD8	NM_015692.5(CPAMD8):c.2793+214C>T	noncoding	Benign
19	16945484	G	C	G16945484C	CPAMD8	NM_015692.5(CPAMD8):c.2793+65C>G	noncoding	Benign
19	16951834	T	C	T16951834C	CPAMD8	NM_015692.5(CPAMD8):c.2508+135A>G	noncoding	Benign
19	16957714	G	A	G16957714A	CPAMD8	NM_015692.5(CPAMD8):c.2276+139C>T	noncoding	Benign
19	16957811	C	G	C16957811G	CPAMD8	NM_015692.5(CPAMD8):c.2276+42G>C	noncoding	Benign
19	16970897	G	T	G16970897T	CPAMD8	NM_015692.5(CPAMD8):c.2207C>A:p.Pro736His	coding	Benign
19	16970980	G	A	G16970980A	CPAMD8	NM_015692.5(CPAMD8):c.2124C>T:p.Asp708=	coding	Benign
19	16975055	A	C	A16975055C	CPAMD8	NM_015692.5(CPAMD8):c.2070+42T>G	noncoding	Benign
19	16975963	C	T	C16975963T	CPAMD8	NM_015692.5(CPAMD8):c.1908+39G>A	noncoding	Benign
19	16977170	C	T	C16977170T	CPAMD8	NM_015692.5(CPAMD8):c.1758+198G>A	noncoding	Benign
19	16977204	T	C	T16977204C	CPAMD8	NM_015692.5(CPAMD8):c.1758+164A>G	noncoding	Benign
19	16977311	T	C	T16977311C	CPAMD8	NM_015692.5(CPAMD8):c.1758+57A>G	noncoding	Benign
19	16977386	C	G	C16977386G	CPAMD8	NM_015692.5(CPAMD8):c.1740G>C:p.Glu580Asp	coding	Benign
19	16977489	T	C	T16977489C	CPAMD8	NM_015692.5(CPAMD8):c.1637A>G:p.His546Arg	coding	Benign
19	16977509	G	T	G16977509T	CPAMD8	NM_015692.5(CPAMD8):c.1617C>A:p.Asp539Glu	coding	Benign
19	16977648	G	A	G16977648A	CPAMD8	NM_015692.5(CPAMD8):c.1586-108C>T	noncoding	Benign
19	16980316	C	G	C16980316G	CPAMD8	NM_015692.5(CPAMD8):c.1585+181G>C	noncoding	Benign
19	16980319	C	T	C16980319T	CPAMD8	NM_015692.5(CPAMD8):c.1585+178G>A	noncoding	Benign
19	16980331	G	T	G16980331T	CPAMD8	NM_015692.5(CPAMD8):c.1585+166C>A	noncoding	Benign
19	16980558	T	G	T16980558G	CPAMD8	NM_015692.5(CPAMD8):c.1524A>C:p.Arg508=	coding	Benign
19	16980571	G	A	G16980571A	CPAMD8	NM_015692.5(CPAMD8):c.1511C>T:p.Thr504Ile	coding	Benign
19	16980723	C	T	C16980723T	CPAMD8	NM_015692.5(CPAMD8):c.1396-37G>A	noncoding	Benign
19	16989567	A	T	A16989567T	CPAMD8	NM_015692.5(CPAMD8):c.1395+76T>A	noncoding	Benign
19	16989628	T	A	T16989628A	CPAMD8	NM_015692.5(CPAMD8):c.1395+15A>T	noncoding	Benign
19	16989742	A	G	A16989742G	CPAMD8	NM_015692.5(CPAMD8):c.1296T>C:p.Pro432=	coding	Benign
19	16989791	A	G	A16989791G	CPAMD8	NM_015692.5(CPAMD8):c.1267-20T>C	noncoding	Benign
19	16989921	A	G	A16989921G	CPAMD8	NM_015692.5(CPAMD8):c.1267-150T>C	noncoding	Benign
19	16993352	C	T	C16993352T	CPAMD8	NM_015692.5(CPAMD8):c.1266+64G>A	noncoding	Benign
19	16993569	G	A	G16993569A	CPAMD8	NM_015692.5(CPAMD8):c.1113C>T:p.Pro371=	coding	Benign
19	16997015	G	A	G16997015A	CPAMD8	NM_015692.5(CPAMD8):c.1095+96C>T	noncoding	Benign
19	16997100	C	T	C16997100T	CPAMD8	NM_015692.5(CPAMD8):c.1095+11G>A	noncoding	Benign
19	16997212	C	T	C16997212T	CPAMD8	NM_015692.5(CPAMD8):c.994G>A:p.Ala332Thr	coding	Benign
19	16997243	C	T	C16997243T	CPAMD8	NM_015692.5(CPAMD8):c.963G>A:p.Met321Ile	coding	Benign
19	16997284	C	T	C16997284T	CPAMD8	NM_015692.5(CPAMD8):c.922G>A:p.Val308Ile	coding	Benign
19	16997288	C	T	C16997288T	CPAMD8	NM_015692.5(CPAMD8):c.918G>A:p.Ala306=	coding	Benign
19	16997325	C	T	C16997325T	CPAMD8	NM_015692.5(CPAMD8):c.881G>A:p.Arg294Gln	coding	Benign
19	16997473	A	G	A16997473G	CPAMD8	NM_015692.5(CPAMD8):c.868-135T>C	noncoding	Benign
19	17000487	A	G	A17000487G	CPAMD8	NM_015692.5(CPAMD8):c.794T>C:p.Met265Thr	coding	Benign
19	17000601	A	G	A17000601G	CPAMD8	NM_015692.5(CPAMD8):c.759-79T>C	noncoding	Benign
19	17002111	C	T	C17002111T	CPAMD8	NM_015692.5(CPAMD8):c.758+155G>A	noncoding	Benign
19	17002191	C	A	C17002191A	CPAMD8	NM_015692.5(CPAMD8):c.758+75G>T	noncoding	Benign
19	17002205	C	T	C17002205T	CPAMD8	NM_015692.5(CPAMD8):c.758+61G>A	noncoding	Benign
19	17002273	G	A	G17002273A	CPAMD8	NM_015692.5(CPAMD8):c.751C>T:p.Arg251Trp	coding	Benign
19	17002337	A	G	A17002337G	CPAMD8	NM_015692.5(CPAMD8):c.687T>C:p.Phe229=	coding	Benign
19	17008543	C	T	C17008543T	CPAMD8	NM_015692.5(CPAMD8):c.521G>A:p.Arg174Gln	coding	Benign
19	17008750	T	C	T17008750C	CPAMD8	NM_015692.5(CPAMD8):c.505-191A>G	noncoding	Benign
19	17009113	C	T	C17009113T	CPAMD8	NM_015692.5(CPAMD8):c.504+190G>A	noncoding	Benign
19	17009145	G	A	G17009145A	CPAMD8	NM_015692.5(CPAMD8):c.504+158C>T	noncoding	Benign
19	17009492	G	A	G17009492A	CPAMD8	NM_015692.5(CPAMD8):c.487-172C>T	noncoding	Benign
19	17011653	G	A	G17011653A	CPAMD8	NM_015692.5(CPAMD8):c.372C>T:p.Asp124=	coding	Benign
19	17011820	G	A	G17011820A	CPAMD8	NM_015692.5(CPAMD8):c.268-63C>T	noncoding	Benign
19	17011838	G	A	G17011838A	CPAMD8	NM_015692.5(CPAMD8):c.268-81C>T	noncoding	Benign
19	17022218	C	A	C17022218A	CPAMD8	NM_015692.5(CPAMD8):c.93-37G>T	noncoding	Benign
19	17022381	A	G	A17022381G	CPAMD8	NM_015692.5(CPAMD8):c.93-200T>C	noncoding	Benign
19	17026480	A	C	A17026480C	CPAMD8	NM_015692.5(CPAMD8):c.92+71T>G	noncoding	Benign
19	17268749	C	T	C17268749T	BABAM1	NM_014173.4(BABAM1):c.-13-45C>T	noncoding	Benign
19	17283116	C	A	C17283116A	ANKLE1	NM_152363.6(ANKLE1):c.461-109C>A	noncoding	Benign
19	17301557	G	A	G17301557A	ABHD8	NM_024527.5(ABHD8):c.60C>T:p.Ala20=	coding	Benign
19	17337486	G	A	G17337486A	GTPBP3	NM_001195422.1(GTPBP3):c.120-522G>A	noncoding	Benign
19	17337628	G	A	G17337628A	GTPBP3	NM_032620.4(GTPBP3):c.17G>A:p.Trp6Ter	coding	Pathogenic
19	17338941	C	T	C17338941T	GTPBP3	NM_032620.4(GTPBP3):c.592-13C>T	noncoding	Benign/Likely_benign
19	17338965	C	T	C17338965T	GTPBP3	NM_032620.4(GTPBP3):c.603C>T:p.His201=	coding	Benign/Likely_benign
19	17339045	G	A	G17339045A	GTPBP3	NM_032620.4(GTPBP3):c.664+19G>A	coding	Pathogenic
19	17339636	G	C	G17339636C	GTPBP3	NM_032620.4(GTPBP3):c.974+37G>C	noncoding	Benign
19	17339637	G	A	G17339637A	GTPBP3	NM_032620.4(GTPBP3):c.974+38G>A	noncoding	Benign
19	17341415	C	A	C17341415A	GTPBP3	NM_032620.4(GTPBP3):c.1254-63C>A	noncoding	Benign
19	17360554	A	G	A17360554G	PLVAP	NM_031310.3(PLVAP):c.1296T>C:p.Pro432_Ala433=	coding	Benign
19	17581234	G	A	G17581234A	COLGALT1	NM_024656.4(COLGALT1):c.1659G>A:p.Pro553_Leu554=	coding	Benign
19	17618978	T	G	T17618978G	UNC13A	NM_001080421.3(UNC13A):c.4273-16A>C	noncoding	Benign
19	17630238	A	G	A17630238G	UNC13A	NM_001080421.3(UNC13A):c.3576T>C:p.Val1192=	coding	Benign
19	17656091	C	T	C17656091T	UNC13A	NM_001080421.3(UNC13A):c.1075G>A:p.Ala359Thr	coding	Benign
19	17755179	G	C	G17755179C	FCHO1	NM_015122.3(FCHO1):c.15G>C:p.Gly5=	coding	Benign
19	17755192	G	A	G17755192A	FCHO1	NM_015122.3(FCHO1):c.27+1G>A	coding	Pathogenic
19	17764374	G	C	G17764374C	FCHO1	NM_015122.3(FCHO1):c.120-1G>C	noncoding	Pathogenic
19	17764424	C	G	C17764424G	FCHO1	NM_015122.3(FCHO1):c.169C>G:p.Leu57Val	coding	Benign
19	17764457	G	T	G17764457T	FCHO1	NM_015122.3(FCHO1):c.194+8G>T	noncoding	Benign
19	17770415	T	C	T17770415C	FCHO1	NM_015122.3(FCHO1):c.337-10T>C	noncoding	Benign
19	17770597	G	A	G17770597A	FCHO1	NM_015122.3(FCHO1):c.489+20G>A	noncoding	Benign
19	17770796	A	G	A17770796G	FCHO1	NM_015122.3(FCHO1):c.494A>G:p.Glu165Gly	coding	Benign
19	17770859	G	A	G17770859A	FCHO1	NM_015122.3(FCHO1):c.557G>A:p.Arg186Gln	coding	Benign
19	17772552	G	A	G17772552A	FCHO1	NM_015122.3(FCHO1):c.690G>A:p.Gly230=	coding	Benign
19	17772630	G	A	G17772630A	FCHO1	NM_015122.3(FCHO1):c.694-15G>A	noncoding	Benign
19	17772760	T	G	T17772760G	FCHO1	NM_015122.3(FCHO1):c.790+19T>G	noncoding	Benign
19	17774461	A	G	A17774461G	FCHO1	NM_015122.3(FCHO1):c.903A>G:p.Pro301=	coding	Benign
19	17775071	C	T	C17775071T	FCHO1	NM_015122.3(FCHO1):c.936C>T:p.Pro312=	coding	Benign
19	17776043	G	A	G17776043A	FCHO1	NM_015122.3(FCHO1):c.1064G>A:p.Arg355His	coding	Benign
19	17776086	A	G	A17776086G	FCHO1	NM_015122.3(FCHO1):c.1107A>G:p.Pro369=	coding	Benign
19	17776131	G	A	G17776131A	FCHO1	NM_015122.3(FCHO1):c.1152G>A:p.Ala384=	coding	Benign
19	17776235	C	T	C17776235T	FCHO1	NM_015122.3(FCHO1):c.1183-12C>T	noncoding	Benign
19	17776665	G	A	G17776665A	FCHO1	NM_015122.3(FCHO1):c.1238G>A:p.Arg413Gln	coding	Benign
19	17778235	G	A	G17778235A	FCHO1	NM_015122.3(FCHO1):c.1351+7G>A	noncoding	Benign
19	17778740	C	T	C17778740T	FCHO1	NM_015122.3(FCHO1):c.1483C>T:p.Arg495Cys	coding	Benign
19	17781782	A	G	A17781782G	FCHO1	NM_015122.3(FCHO1):c.1899A>G:p.Thr633=	coding	Benign
19	17781794	C	T	C17781794T	FCHO1	NM_015122.3(FCHO1):c.1911C>T:p.His637=	coding	Benign
19	17783177	T	C	T17783177C	FCHO1	NM_015122.3(FCHO1):c.2093+5T>C	noncoding	Benign
19	17783185	G	A	G17783185A	FCHO1	NM_015122.3(FCHO1):c.2093+13G>A	noncoding	Benign
19	17783186	G	T	G17783186T	FCHO1	NM_015122.3(FCHO1):c.2093+14G>T	noncoding	Benign
19	17784246	C	T	C17784246T	FCHO1	NM_015122.3(FCHO1):c.2226+11C>T	noncoding	Benign
19	17784801	T	C	T17784801C	FCHO1	NM_015122.3(FCHO1):c.2303T>C:p.Val768Ala	coding	Benign
19	17784859	C	T	C17784859T	FCHO1	NM_015122.3(FCHO1):c.2361C>T:p.Asn787=	coding	Benign/Likely_benign
19	17788271	T	C	T17788271C	FCHO1	NM_015122.3(FCHO1):c.2648-13T>C	coding	Benign
19	17788277	C	A	C17788277A	FCHO1	NM_015122.3(FCHO1):c.2648-7C>A	coding	Benign
19	17816591	C	T	C17816591T	INSL3	NM_005543.4(INSL3):c.*263G>A	noncoding	Benign
19	17821329	T	C	T17821329C	INSL3	NM_005543.4(INSL3):c.178A>G:p.Thr60Ala	coding	Benign
19	17821381	T	C	T17821381C	INSL3	NM_005543.4(INSL3):c.126A>G:p.Leu42=	coding	Benign
19	17821455	C	T	C17821455T	INSL3	NM_005543.4(INSL3):c.52G>A:p.Val18Met	coding	Benign
19	17821480	C	T	C17821480T	INSL3	NM_005543.4(INSL3):c.27G>A:p.Ala9=	coding	Benign
19	17826911	C	T	C17826911T	JAK3	NM_000215.4(JAK3):c.3208-1G>A	coding	Pathogenic
19	17826949	C	T	C17826949T	JAK3	NM_000215.4(JAK3):c.3208-39G>A	noncoding	Benign
19	17826977	C	T	C17826977T	JAK3	NM_000215.4(JAK3):c.3208-67G>A	noncoding	Benign
19	17829896	C	T	C17829896T	JAK3	NM_000215.4(JAK3):c.3207+212G>A	noncoding	Benign
19	17830007	G	C	G17830007C	JAK3	NM_000215.4(JAK3):c.3207+101C>G	noncoding	Benign
19	17830033	G	A	G17830033A	JAK3	NM_000215.4(JAK3):c.3207+75C>T	noncoding	Benign
19	17830334	A	C	A17830334C	JAK3	NM_000215.4(JAK3):c.3097-116T>G	noncoding	Benign
19	17830364	C	G	C17830364G	JAK3	NM_000215.4(JAK3):c.3096+139G>C	noncoding	Benign
19	17830445	T	C	T17830445C	JAK3	NM_000215.4(JAK3):c.3096+58A>G	noncoding	Benign
19	17830567	C	T	C17830567T	JAK3	NM_000215.4(JAK3):c.3032G>A:p.Trp1011Ter	coding	Pathogenic
19	17830592	T	C	T17830592C	JAK3	NM_000215.4(JAK3):c.3007A>G:p.Ile1003Val	coding	Benign
19	17831018	G	A	G17831018A	JAK3	NM_000215.4(JAK3):c.2978+210C>T	noncoding	Benign
19	17831128	A	G	A17831128G	JAK3	NM_000215.4(JAK3):c.2978+100T>C	noncoding	Benign
19	17831150	G	A	G17831150A	JAK3	NM_000215.4(JAK3):c.2978+78C>T	noncoding	Benign
19	17831175	G	A	G17831175A	JAK3	NM_000215.4(JAK3):c.2978+53C>T	noncoding	Benign
19	17831196	A	G	A17831196G	JAK3	NM_000215.4(JAK3):c.2978+32T>C	noncoding	Benign
19	17831344	G	A	G17831344A	JAK3	NM_000215.4(JAK3):c.2862C>T:p.Asn954=	coding	Benign
19	17831420	G	C	G17831420C	JAK3	NM_000215.4(JAK3):c.2806-20C>G	noncoding	Benign
19	17831561	T	C	T17831561C	JAK3	NM_000215.4(JAK3):c.2805+113A>G	noncoding	Benign
19	17831999	G	A	G17831999A	JAK3	NM_000215.4(JAK3):c.2681-201C>T	noncoding	Benign
19	17834597	C	T	C17834597T	JAK3	NM_000215.4(JAK3):c.2324G>A:p.Arg775His	coding	Pathogenic/Likely_pathogenic
19	17834610	G	A	G17834610A	JAK3	NM_000215.4(JAK3):c.2311C>T:p.Arg771Ter	coding	Pathogenic
19	17835235	G	A	G17835235A	JAK3	NM_000215.4(JAK3):c.1915-20C>T	noncoding	Benign
19	17835914	G	A	G17835914A	JAK3	NM_000215.4(JAK3):c.1914+10C>T	noncoding	Benign/Likely_benign
19	17837038	G	T	G17837038T	JAK3	NM_000215.4(JAK3):c.1786+91C>A	noncoding	Benign
19	17837112	G	A	G17837112A	JAK3	NM_000215.4(JAK3):c.1786+17C>T	noncoding	Benign
19	17837113	G	A	G17837113A	JAK3	NM_000215.4(JAK3):c.1786+16C>T	noncoding	Benign
19	17837171	G	A	G17837171A	JAK3	NM_000215.4(JAK3):c.1744C>T:p.Arg582Trp	coding	Pathogenic/Likely_pathogenic
19	17837849	T	C	T17837849C	JAK3	NM_000215.4(JAK3):c.1701+83A>G	noncoding	Benign
19	17839698	C	T	C17839698T	JAK3	NM_000215.4(JAK3):c.1255-35G>A	noncoding	Benign
19	17839711	C	T	C17839711T	JAK3	NM_000215.4(JAK3):c.1255-48G>A	noncoding	Benign
19	17839865	C	T	C17839865T	JAK3	NM_000215.4(JAK3):c.1255-202G>A	noncoding	Benign
19	17840210	C	T	C17840210T	JAK3	NM_000215.4(JAK3):c.1254+20G>A	noncoding	Benign
19	17840228	A	T	A17840228T	JAK3	NM_000215.4(JAK3):c.1254+2T>A	noncoding	Pathogenic
19	17840297	G	A	G17840297A	JAK3	NM_000215.4(JAK3):c.1187C>T:p.Pro396Leu	coding	Benign
19	17840369	G	A	G17840369A	JAK3	NM_000215.4(JAK3):c.1143-28C>T	noncoding	Benign
19	17841182	G	T	G17841182T	JAK3	NM_000215.4(JAK3):c.1142+207C>A	noncoding	Benign
19	17841255	C	G	C17841255G	JAK3	NM_000215.4(JAK3):c.1142+134G>C	noncoding	Benign
19	17841388	C	G	C17841388G	JAK3	NM_000215.4(JAK3):c.1142+1G>C	noncoding	Pathogenic
19	17841596	C	T	C17841596T	JAK3	NM_000215.4(JAK3):c.984+44G>A	noncoding	Benign
19	17841711	G	A	G17841711A	JAK3	NM_000215.4(JAK3):c.913C>T:p.Gln305Ter	coding	Pathogenic
19	17841783	C	T	C17841783T	JAK3	NM_000215.4(JAK3):c.862-21G>A	noncoding	Benign
19	17841800	T	G	T17841800G	JAK3	NM_000215.4(JAK3):c.862-38A>C	noncoding	Benign
19	17841869	T	C	T17841869C	JAK3	NM_000215.4(JAK3):c.862-107A>G	noncoding	Benign
19	17842014	C	G	C17842014G	JAK3	NM_000215.4(JAK3):c.862-252G>C	noncoding	Benign
19	17842121	A	G	A17842121G	JAK3	NM_000215.4(JAK3):c.861+195T>C	noncoding	Benign
19	17842599	C	T	C17842599T	JAK3	NM_000215.4(JAK3):c.578G>A:p.Cys193Tyr	coding	Pathogenic
19	17843321	T	C	T17843321C	JAK3	NM_000215.4(JAK3):c.420+59A>G	noncoding	Benign
19	17843340	A	G	A17843340G	JAK3	NM_000215.4(JAK3):c.420+40T>C	noncoding	Benign
19	17843349	C	A	C17843349A	JAK3	NM_000215.4(JAK3):c.420+31G>T	noncoding	Benign
19	17843580	C	T	C17843580T	JAK3	NM_000215.4(JAK3):c.309-89G>A	noncoding	Benign
19	17843604	G	T	G17843604T	JAK3	NM_000215.4(JAK3):c.309-113C>A	noncoding	Benign
19	17843605	T	G	T17843605G	JAK3	NM_000215.4(JAK3):c.309-114A>C	noncoding	Benign
19	17843685	C	T	C17843685T	JAK3	NM_000215.4(JAK3):c.308+92G>A	noncoding	Benign
19	17843715	C	T	C17843715T	JAK3	NM_000215.4(JAK3):c.308+62G>A	noncoding	Benign
19	17844137	C	T	C17844137T	JAK3	NM_000215.4(JAK3):c.184+97G>A	noncoding	Benign
19	17844138	G	A	G17844138A	JAK3	NM_000215.4(JAK3):c.184+96C>T	noncoding	Benign
19	17844192	C	T	C17844192T	JAK3	NM_000215.4(JAK3):c.184+42G>A	noncoding	Benign
19	17844194	C	T	C17844194T	JAK3	NM_000215.4(JAK3):c.184+40G>A	noncoding	Benign
19	17844212	G	A	G17844212A	JAK3	NM_000215.4(JAK3):c.184+22C>T	noncoding	Benign
19	17872752	C	T	C17872752T	SLC5A5	NM_000453.3(SLC5A5):c.357+76C>T	noncoding	Benign
19	17883584	T	G	T17883584G	SLC5A5	NM_000453.3(SLC5A5):c.1243-97T>G	noncoding	Benign
19	17883826	C	T	C17883826T	SLC5A5	NM_000453.3(SLC5A5):c.1330-24C>T	noncoding	Benign
19	17891030	A	G	A17891030G	SLC5A5	NM_000453.3(SLC5A5):c.1767+29A>G	noncoding	Benign
19	17893553	C	G	C17893553G	SLC5A5	NM_000453.3(SLC5A5):c.1768-160C>G	noncoding	Benign
19	17893584	G	A	G17893584A	SLC5A5	NM_000453.3(SLC5A5):c.1768-129G>A	noncoding	Benign
19	18063933	G	A	G18063933A	IL12RB1	NM_005535.3(IL12RB1):c.1561C>T:p.Arg521Ter	coding	Pathogenic
19	18063999	G	A	G18063999A	IL12RB1	NM_005535.3(IL12RB1):c.1495C>T:p.Gln499Ter	coding	Pathogenic
19	18066569	G	A	G18066569A	IL12RB1	NM_005535.3(IL12RB1):c.1456C>T:p.Arg486Ter	coding	Pathogenic
19	18066627	C	T	C18066627T	IL12RB1	NM_005535.3(IL12RB1):c.1398G>A:p.Trp466Ter	coding	Pathogenic
19	18072191	G	T	G18072191T	IL12RB1	NM_005535.3(IL12RB1):c.942C>A:p.Tyr314Ter	coding	Pathogenic
19	18072343	G	A	G18072343A	IL12RB1	NM_005535.3(IL12RB1):c.790C>T:p.Gln264Ter	coding	Pathogenic
19	18075814	C	T	C18075814T	IL12RB1	NM_005535.3(IL12RB1):c.635G>A:p.Arg212Gln	coding	Pathogenic
19	18075886	G	A	G18075886A	IL12RB1	NM_005535.3(IL12RB1):c.581-18C>T	noncoding	Benign
19	18077548	G	A	G18077548A	IL12RB1	NM_005535.3(IL12RB1):c.517C>T:p.Arg173Trp	coding	Pathogenic
19	18077572	G	A	G18077572A	IL12RB1	NM_005535.3(IL12RB1):c.493C>T:p.Gln165Ter	coding	Pathogenic
19	18083418	G	A	G18083418A	IL12RB1	NM_005535.3(IL12RB1):c.124+14C>T	noncoding	Benign
19	18123979	C	T	C18123979T	MAST3	NM_001393504.1(MAST3):c.674C>T:p.Thr225Met	coding	Benign
19	18130574	G	C	G18130574C	MAST3	NM_001393504.1(MAST3):c.1304G>C:p.Arg435Pro	coding	Pathogenic
19	18134637	G	A	G18134637A	MAST3	NM_001393504.1(MAST3):c.1630G>A:p.Gly544Ser	coding	Pathogenic
19	18134641	T	C	T18134641C	MAST3	NM_001393504.1(MAST3):c.1634T>C:p.Leu545Pro	coding	Pathogenic
19	18134702	C	T	C18134702T	MAST3	NM_001393504.1(MAST3):c.1695C>T:p.Ile565=	coding	Benign
19	18134850	G	T	G18134850T	MAST3	NM_001393504.1(MAST3):c.1738G>T:p.Val580Leu	coding	Pathogenic
19	18134997	C	T	C18134997T	MAST3	NM_001393504.1(MAST3):c.1870+15C>T	noncoding	Benign
19	18144549	G	A	G18144549A	MAST3	NM_001393504.1(MAST3):c.2668G>A:p.Gly890Ser	coding	Benign
19	18155925	C	T	C18155925T	PIK3R2	NM_005027.4(PIK3R2):c.46C>T:p.Arg16Cys	coding	Benign
19	18156181	G	A	G18156181A	PIK3R2	NM_005027.4(PIK3R2):c.302G>A:p.Arg101His	coding	Benign/Likely_benign
19	18156183	G	A	G18156183A	PIK3R2	NM_005027.4(PIK3R2):c.304G>A:p.Asp102Asn	coding	Benign
19	18156190	C	A	C18156190A	PIK3R2	NM_005027.4(PIK3R2):c.311C>A:p.Ala104Asp	coding	Benign/Likely_benign
19	18160598	G	A	G18160598A	PIK3R2	NM_005027.4(PIK3R2):c.415+35G>A	noncoding	Benign
19	18161209	G	A	G18161209A	PIK3R2	NM_005027.4(PIK3R2):c.598+24G>A	noncoding	Benign
19	18161371	C	T	C18161371T	PIK3R2	NM_005027.4(PIK3R2):c.691C>T:p.Arg231Cys	coding	Benign
19	18162022	A	G	A18162022G	PIK3R2	NM_005027.4(PIK3R2):c.872A>G:p.His291Arg	coding	Benign/Likely_benign
19	18162162	C	T	C18162162T	PIK3R2	NM_005027.4(PIK3R2):c.902-40C>T	noncoding	Benign
19	18162167	G	A	G18162167A	PIK3R2	NM_005027.4(PIK3R2):c.902-35G>A	noncoding	Benign
19	18162389	A	G	A18162389G	PIK3R2	NM_005027.4(PIK3R2):c.1011-19A>G	noncoding	Benign
19	18162600	A	G	A18162600G	PIK3R2	NM_005027.4(PIK3R2):c.1109+94A>G	noncoding	Benign
19	18162729	T	A	T18162729A	PIK3R2	NM_005027.4(PIK3R2):c.1109+223T>A	noncoding	Benign
19	18163010	G	A	G18163010A	PIK3R2	NM_005027.4(PIK3R2):c.1153G>A:p.Gly385Arg	coding	Pathogenic
19	18163048	C	T	C18163048T	PIK3R2	NM_005027.4(PIK3R2):c.1191C>T:p.Ser397=	coding	Benign/Likely_benign
19	18163100	G	A	G18163100A	PIK3R2	NM_005027.4(PIK3R2):c.1243G>A:p.Ala415Thr	coding	Benign
19	18163301	C	A	C18163301A	PIK3R2	NM_005027.4(PIK3R2):c.1329C>A:p.Gly443=	coding	Benign
19	18163399	C	T	C18163399T	PIK3R2	NM_005027.4(PIK3R2):c.1416+11C>T	noncoding	Benign
19	18163403	G	A	G18163403A	PIK3R2	NM_005027.4(PIK3R2):c.1416+15G>A	noncoding	Benign
19	18166046	T	C	T18166046C	PIK3R2	NM_005027.4(PIK3R2):c.1417-114T>C	noncoding	Benign
19	18166073	C	G	C18166073G	PIK3R2	NM_005027.4(PIK3R2):c.1417-87C>G	noncoding	Benign
19	18166396	G	A	G18166396A	PIK3R2	NM_005027.4(PIK3R2):c.1559+94G>A	noncoding	Benign
19	18167113	C	T	C18167113T	PIK3R2	NM_005027.4(PIK3R2):c.1560-17C>T	noncoding	Benign/Likely_benign
19	18167190	G	A	G18167190A	PIK3R2	NM_005027.4(PIK3R2):c.1620G>A:p.Thr540=	coding	Benign
19	18167252	A	G	A18167252G	PIK3R2	NM_005027.4(PIK3R2):c.1682A>G:p.Asn561Ser	coding	Benign
19	18168709	A	G	A18168709G	PIK3R2	NM_005027.4(PIK3R2):c.1809-17A>G	noncoding	Benign
19	18168719	A	C	A18168719C	PIK3R2	NM_005027.4(PIK3R2):c.1809-7A>C	noncoding	Benign
19	18168719	A	T	A18168719T	PIK3R2	NM_005027.4(PIK3R2):c.1809-7A>T	noncoding	Benign
19	18168792	C	T	C18168792T	PIK3R2	NM_005027.4(PIK3R2):c.1875C>T:p.Gly625=	coding	Benign
19	18169006	A	G	A18169006G	PIK3R2	NM_005027.4(PIK3R2):c.1980-81A>G	noncoding	Benign
19	18169051	C	T	C18169051T	PIK3R2	NM_005027.4(PIK3R2):c.1980-36C>T	noncoding	Benign
19	18169093	C	T	C18169093T	PIK3R2	NM_005027.4(PIK3R2):c.1986C>T:p.Asp662=	coding	Benign
19	18169275	C	T	C18169275T	PIK3R2	NM_005027.4(PIK3R2):c.2168C>T:p.Pro723Leu	coding	Benign/Likely_benign
19	18169278	C	T	C18169278T	PIK3R2	NM_005027.4(PIK3R2):c.2171C>T:p.Pro724Leu	coding	Benign
19	18169420	T	A	T18169420A	PIK3R2	NM_005027.4(PIK3R2):c.*126T>A	noncoding	Benign
19	18193890	A	G	A18193890G	MPV17L2	NM_032683.3(MPV17L2):c.214A>G:p.Met72Val	coding	Benign
19	18200389	A	G	A18200389G	RAB3A	NM_002866.5(RAB3A):c.285T>C:p.Ala95=	coding	Benign
19	18450663	G	A	G18450663A	ELL	NM_006532.4(ELL):c.1279C>T:p.Leu427=	coding	Benign
19	18451628	C	T	C18451628T	ELL	NM_006532.4(ELL):c.890G>A:p.Ser297Asn	coding	Benign
19	18593718	C	T	C18593718T	CRLF1	NM_004750.5(CRLF1):c.1256-139G>A	noncoding	Benign
19	18594033	C	T	C18594033T	CRLF1	NM_004750.5(CRLF1):c.1255+32G>A	noncoding	Benign
19	18594499	G	T	G18594499T	CRLF1	NM_004750.5(CRLF1):c.1025-65C>A	noncoding	Benign
19	18596580	C	T	C18596580T	CRLF1	NM_004750.5(CRLF1):c.1024+42G>A	noncoding	Benign
19	18596971	G	T	G18596971T	CRLF1	NM_004750.5(CRLF1):c.776C>A:p.Ser259Ter	coding	Pathogenic
19	18596976	C	T	C18596976T	CRLF1	NM_004750.5(CRLF1):c.771G>A:p.Trp257Ter	coding	Pathogenic
19	18597068	A	C	A18597068C	CRLF1	NM_004750.5(CRLF1):c.698-19T>G	noncoding	Benign
19	18597163	T	C	T18597163C	CRLF1	NM_004750.5(CRLF1):c.698-114A>G	noncoding	Benign
19	18598365	C	T	C18598365T	CRLF1	NM_004750.5(CRLF1):c.697+67G>A	noncoding	Benign
19	18598598	C	T	C18598598T	CRLF1	NM_004750.5(CRLF1):c.531G>A:p.Trp177Ter	coding	Pathogenic
19	18598951	G	A	G18598951A	CRLF1	NM_004750.5(CRLF1):c.398-50C>T	noncoding	Benign
19	18598958	G	A	G18598958A	CRLF1	NM_004750.5(CRLF1):c.398-57C>T	noncoding	Benign
19	18599725	G	A	G18599725A	CRLF1	NM_004750.5(CRLF1):c.237C>T:p.Asn79=	coding	Benign
19	18606454	C	T	C18606454T	CRLF1	NM_004750.5(CRLF1):c.115+88G>A	noncoding	Benign
19	18606485	C	A	C18606485A	CRLF1	NM_004750.5(CRLF1):c.115+57G>T	noncoding	Benign
19	18606827	G	A	G18606827A	CRLF1	Single_allele	noncoding	Benign
19	18607022	G	A	G18607022A	CRLF1	Single_allele	noncoding	Benign
19	18782854	C	T	C18782854T	COMP	NM_000095.3(COMP):c.*61G>A	noncoding	Benign
19	18782980	C	T	C18782980T	COMP	NM_000095.3(COMP):c.2228-19G>A	noncoding	Benign
19	18783036	C	T	C18783036T	COMP	NM_000095.3(COMP):c.2227+18G>A	noncoding	Benign
19	18784093	G	A	G18784093A	COMP	NM_000095.3(COMP):c.2087+98C>T	noncoding	Benign
19	18784560	G	A	G18784560A	COMP	NM_000095.3(COMP):c.1915-197C>T	noncoding	Benign
19	18785235	C	A	C18785235A	COMP	NM_000095.3(COMP):c.1718-143G>T	noncoding	Benign
19	18785277	C	G	C18785277G	COMP	NM_000095.3(COMP):c.1718-185G>C	noncoding	Benign
19	18785653	C	A	C18785653A	COMP	NM_000095.3(COMP):c.1668+20G>T	noncoding	Benign
19	18785772	G	C	G18785772C	COMP	NM_000095.3(COMP):c.1569C>G:p.Asn523Lys	coding	Pathogenic/Likely_pathogenic
19	18785772	G	T	G18785772T	COMP	NM_000095.3(COMP):c.1569C>A:p.Asn523Lys	coding	Pathogenic/Likely_pathogenic
19	18785788	T	C	T18785788C	COMP	NM_000095.3(COMP):c.1553A>G:p.Asp518Gly	coding	Pathogenic
19	18785796	G	C	G18785796C	COMP	NM_000095.3(COMP):c.1545C>G:p.Asp515Glu	coding	Pathogenic
19	18785808	G	C	G18785808C	COMP	NM_000095.3(COMP):c.1533C>G:p.Asp511Glu	coding	Pathogenic/Likely_pathogenic
19	18785815	T	A	T18785815A	COMP	NM_000095.3(COMP):c.1526A>T:p.Asp509Val	coding	Pathogenic
19	18785821	T	C	T18785821C	COMP	NM_000095.3(COMP):c.1520A>G:p.Asp507Gly	coding	Pathogenic
19	18785987	G	T	G18785987T	COMP	NM_000095.3(COMP):c.1467C>A:p.Asn489Lys	coding	Pathogenic
19	18786135	C	T	C18786135T	COMP	NM_000095.3(COMP):c.1319G>A:p.Gly440Glu	coding	Pathogenic
19	18786136	C	G	C18786136G	COMP	NM_000095.3(COMP):c.1318G>C:p.Gly440Arg	coding	Pathogenic/Likely_pathogenic
19	18786136	C	T	C18786136T	COMP	NM_000095.3(COMP):c.1318G>A:p.Gly440Arg	coding	Pathogenic
19	18786139	C	A	C18786139A	COMP	NM_000095.3(COMP):c.1315G>T:p.Asp439Tyr	coding	Pathogenic/Likely_pathogenic
19	18786145	C	G	C18786145G	COMP	NM_000095.3(COMP):c.1309G>C:p.Asp437His	coding	Pathogenic
19	18786266	C	T	C18786266T	COMP	NM_000095.3(COMP):c.1280G>A:p.Gly427Glu	coding	Pathogenic
19	18786557	C	T	C18786557T	COMP	NM_000095.3(COMP):c.1229G>A:p.Cys410Tyr	coding	Pathogenic
19	18786585	C	T	C18786585T	COMP	NM_000095.3(COMP):c.1201G>A:p.Asp401Asn	coding	Pathogenic/Likely_pathogenic
19	18787494	C	T	C18787494T	COMP	NM_000095.3(COMP):c.1132G>A:p.Asp378Asn	coding	Pathogenic
19	18787500	C	G	C18787500G	COMP	NM_000095.3(COMP):c.1126G>C:p.Asp376His	coding	Pathogenic
19	18787581	C	G	C18787581G	COMP	NM_000095.3(COMP):c.1045G>C:p.Asp349His	coding	Pathogenic
19	18787581	C	T	C18787581T	COMP	NM_000095.3(COMP):c.1045G>A:p.Asp349Asn	coding	Pathogenic
19	18787650	C	T	C18787650T	COMP	NM_000095.3(COMP):c.976G>A:p.Asp326Asn	coding	Pathogenic
19	18788262	C	T	C18788262T	COMP	NM_000095.3(COMP):c.925G>A:p.Gly309Arg	coding	Pathogenic
19	18788282	T	A	T18788282A	COMP	NM_000095.3(COMP):c.905A>T:p.Asp302Val	coding	Pathogenic
19	18788292	C	T	C18788292T	COMP	NM_000095.3(COMP):c.895G>A:p.Gly299Arg	coding	Pathogenic
19	18788301	G	A	G18788301A	COMP	NM_000095.3(COMP):c.886C>T:p.Pro296Ser	coding	Pathogenic
19	18788313	A	G	A18788313G	COMP	NM_000095.3(COMP):c.874T>C:p.Cys292Arg	coding	Pathogenic/Likely_pathogenic
19	18788319	C	A	C18788319A	COMP	NM_000095.3(COMP):c.868G>T:p.Asp290Tyr	coding	Pathogenic
19	18788471	T	C	T18788471C	COMP	NM_000095.3(COMP):c.806A>G:p.Asp269Gly	coding	Pathogenic
19	18788472	C	T	C18788472T	COMP	NM_000095.3(COMP):c.805G>A:p.Asp269Asn	coding	Pathogenic/Likely_pathogenic
19	18788758	G	C	G18788758C	COMP	NM_000095.3(COMP):c.604-8C>G	noncoding	Benign
19	18789276	G	C	G18789276C	COMP	NM_000095.3(COMP):c.412C>G:p.Pro138Ala	coding	Benign
19	18789278	A	G	A18789278G	COMP	NM_000095.3(COMP):c.410T>C:p.Phe137Ser	coding	Benign/Likely_benign
19	18789338	C	T	C18789338T	COMP	NM_000095.3(COMP):c.391-41G>A	noncoding	Benign
19	18789426	A	T	A18789426T	COMP	NM_000095.3(COMP):c.391-129T>A	noncoding	Benign
19	18789465	G	C	G18789465C	COMP	NM_000095.3(COMP):c.391-168C>G	noncoding	Benign
19	18789478	C	T	C18789478T	COMP	NM_000095.3(COMP):c.391-181G>A	noncoding	Benign
19	18789551	G	A	G18789551A	COMP	NM_000095.3(COMP):c.391-254C>T	noncoding	Benign
19	18790582	A	T	A18790582T	COMP	NM_000095.3(COMP):c.197T>A:p.Val66Glu	coding	Pathogenic
19	18831773	A	G	A18831773G	UPF1	Single_allele	noncoding	Benign
19	18832079	C	G	C18832079G	UPF1	NM_002911.4(UPF1):c.-131C>G	noncoding	Benign
19	18832347	G	A	G18832347A	UPF1	NM_002911.4(UPF1):c.138G>A:p.Thr46=	coding	Benign
19	18845890	G	A	G18845890A	UPF1	NM_002911.4(UPF1):c.232-90G>A	noncoding	Benign
19	18854847	T	G	T18854847G	UPF1	NM_002911.4(UPF1):c.1266-32T>G	noncoding	Benign
19	18855350	G	A	G18855350A	UPF1	NM_002911.4(UPF1):c.1544+108G>A	noncoding	Benign
19	18856912	C	T	C18856912T	UPF1	NM_002911.4(UPF1):c.1860C>T:p.Ala620=	coding	Benign
19	18860513	T	C	T18860513C	UPF1	NM_002911.4(UPF1):c.2300+75T>C	noncoding	Benign
19	18861071	G	A	G18861071A	UPF1	NM_002911.4(UPF1):c.2457+89G>A	noncoding	Benign
19	18861199	A	G	A18861199G	UPF1	NM_002911.4(UPF1):c.2457+217A>G	noncoding	Benign
19	18861870	G	A	G18861870A	UPF1	NM_002911.4(UPF1):c.2458-140G>A	noncoding	Benign
19	18861925	G	T	G18861925T	UPF1	NM_002911.4(UPF1):c.2458-85G>T	noncoding	Benign
19	18863250	G	C	G18863250C	UPF1	NM_002911.4(UPF1):c.2601-188G>C	noncoding	Benign
19	18863391	A	G	A18863391G	UPF1	NM_002911.4(UPF1):c.2601-47A>G	noncoding	Benign
19	18866176	C	G	C18866176G	UPF1	NM_002911.4(UPF1):c.*3+10C>G	noncoding	Benign
19	18866179	G	A	G18866179A	UPF1	NM_002911.4(UPF1):c.*3+13G>A	noncoding	Benign
19	18868515	A	C	A18868515C	UPF1	Single_allele	noncoding	Benign
19	18868827	G	A	G18868827A	CERS1	NM_021267.5(CERS1):c.*1158C>T	coding	Pathogenic
19	18869090	C	T	C18869090T	CERS1	NM_021267.5(CERS1):c.*895G>A	coding	Pathogenic
19	18870426	C	A	C18870426A	CERS1	NM_001492.6(GDF1):c.-119G>T	noncoding	Benign
19	19096308	T	A	T19096308A	SLC25A42	NM_178526.5(SLC25A42):c.81+103T>A	noncoding	Benign
19	19101849	G	A	G19101849A	SLC25A42	NM_178526.5(SLC25A42):c.150G>A:p.Ala50=	coding	Benign
19	19104741	A	G	A19104741G	SLC25A42	NM_178526.5(SLC25A42):c.188-172A>G	noncoding	Benign
19	19105804	T	C	T19105804C	SLC25A42	NM_178526.5(SLC25A42):c.380+77T>C	noncoding	Benign
19	19105919	A	G	A19105919G	SLC25A42	NM_178526.5(SLC25A42):c.380+192A>G	noncoding	Benign
19	19106272	C	A	C19106272A	SLC25A42	NM_178526.5(SLC25A42):c.384C>A:p.Ala128=	coding	Benign
19	19106279	C	G	C19106279G	SLC25A42	NM_178526.5(SLC25A42):c.391C>G:p.Pro131Ala	coding	Benign
19	19107681	C	G	C19107681G	SLC25A42	NM_178526.5(SLC25A42):c.498-213C>G	noncoding	Benign
19	19107996	C	T	C19107996T	SLC25A42	NM_178526.5(SLC25A42):c.600C>T:p.Tyr200=	coding	Benign
19	19111037	C	A	C19111037A	SLC25A42	NM_178526.5(SLC25A42):c.*161C>A	noncoding	Benign
19	19196952	C	T	C19196952T	RFXANK	NM_003721.4(RFXANK):c.188-11C>T	noncoding	Benign/Likely_benign
19	19198094	C	T	C19198094T	RFXANK	NM_003721.4(RFXANK):c.439-13C>T	noncoding	Benign
19	19198200	G	T	G19198200T	RFXANK	NM_003721.4(RFXANK):c.532G>T:p.Glu178Ter	coding	Pathogenic
19	19198203	C	T	C19198203T	RFXANK	NM_003721.4(RFXANK):c.535C>T:p.Arg179Cys	coding	Benign/Likely_benign
19	19199156	C	T	C19199156T	RFXANK	NM_003721.4(RFXANK):c.634C>T:p.Arg212Ter	coding	Pathogenic
19	19279376	G	A	G19279376A	SUGP1	NM_172231.4(SUGP1):c.1365C>T:p.Tyr455=	coding	Benign
19	19526169	C	T	C19526169T	NDUFA13	NM_015965.7(NDUFA13):c.95-13C>T	noncoding	Benign
19	19526194	T	C	T19526194C	NDUFA13	NM_015965.7(NDUFA13):c.107T>C:p.Leu36Pro	coding	Pathogenic
19	29213095	T	C	T29213095C	UQCRFS1	NM_006003.3(UQCRFS1):c.24A>G:p.Ser8=	coding	Benign
19	29213103	A	C	A29213103C	UQCRFS1	NM_006003.3(UQCRFS1):c.16T>G:p.Ser6Ala	coding	Benign
19	29705141	C	T	C29705141T	C19orf12	NM_031448.6(C19orf12):c.161-2164G>A	noncoding	Benign
19	29705402	C	A	C29705402A	C19orf12	NM_031448.6(C19orf12):c.161-2425G>T	noncoding	Benign
19	29705525	T	G	T29705525G	C19orf12	NM_031448.6(C19orf12):c.161-2548A>C	noncoding	Benign
19	31277510	A	G	A31277510G	TSHZ3	NM_020856.4(TSHZ3):c.2283T>C:p.Ala761=	coding	Benign
19	31279103	C	T	C31279103T	TSHZ3	NM_020856.4(TSHZ3):c.690G>A:p.Thr230=	coding	Benign
19	32830686	T	C	T32830686C	SLC7A9	NM_014270.5(SLC7A9):c.1400-2A>G	noncoding	Pathogenic
19	32830811	A	G	A32830811G	SLC7A9	NM_014270.5(SLC7A9):c.1400-127T>C	noncoding	Benign
19	32830869	C	G	C32830869G	SLC7A9	NM_014270.5(SLC7A9):c.1400-185G>C	noncoding	Benign
19	32833074	G	T	G32833074T	SLC7A9	NM_014270.5(SLC7A9):c.1399+75C>A	noncoding	Benign
19	32833151	G	T	G32833151T	SLC7A9	NM_014270.5(SLC7A9):c.1397C>A:p.Ser466Ter	coding	Pathogenic
19	32833183	G	A	G32833183A	SLC7A9	NM_014270.5(SLC7A9):c.1365C>T:p.Val455=	coding	Benign/Likely_benign
19	32833195	G	T	G32833195T	SLC7A9	NM_014270.5(SLC7A9):c.1353C>A:p.Tyr451Ter	coding	Pathogenic
19	32833369	T	C	T32833369C	SLC7A9	NM_014270.5(SLC7A9):c.1225-46A>G	noncoding	Benign
19	32841922	C	G	C32841922G	SLC7A9	NM_014270.5(SLC7A9):c.1224+246G>C	noncoding	Benign
19	32842046	C	T	C32842046T	SLC7A9	NM_014270.5(SLC7A9):c.1224+122G>A	noncoding	Benign
19	32842210	G	A	G32842210A	SLC7A9	NM_014270.5(SLC7A9):c.1182C>T:p.Ile394=	coding	Benign
19	32843787	G	A	G32843787A	SLC7A9	NM_014270.5(SLC7A9):c.1074+68C>T	noncoding	Benign
19	32843932	G	A	G32843932A	SLC7A9	NM_014270.5(SLC7A9):c.997C>T:p.Arg333Trp	coding	Pathogenic/Likely_pathogenic
19	32843968	C	T	C32843968T	SLC7A9	NM_014270.5(SLC7A9):c.978-17G>A	noncoding	Benign
19	32843969	G	A	G32843969A	SLC7A9	NM_014270.5(SLC7A9):c.978-18C>T	noncoding	Benign
19	32844072	G	A	G32844072A	SLC7A9	NM_014270.5(SLC7A9):c.978-121C>T	noncoding	Benign
19	32858273	G	A	G32858273A	SLC7A9	NM_014270.5(SLC7A9):c.977+167C>T	noncoding	Benign
19	32858389	T	C	T32858389C	SLC7A9	NM_014270.5(SLC7A9):c.977+51A>G	noncoding	Benign
19	32858462	C	T	C32858462T	SLC7A9	NM_014270.5(SLC7A9):c.955G>A:p.Gly319Arg	coding	Pathogenic
19	32858582	T	C	T32858582C	SLC7A9	NM_014270.5(SLC7A9):c.874-39A>G	noncoding	Benign
19	32858770	T	A	T32858770A	SLC7A9	NM_014270.5(SLC7A9):c.874-227A>T	noncoding	Benign
19	32858809	A	C	A32858809C	SLC7A9	NM_014270.5(SLC7A9):c.874-266T>G	noncoding	Benign
19	32858845	A	G	A32858845G	SLC7A9	NM_014270.5(SLC7A9):c.874-302T>C	noncoding	Benign
19	32858858	G	A	G32858858A	SLC7A9	NM_014270.5(SLC7A9):c.874-315C>T	noncoding	Benign
19	32860600	T	C	T32860600C	SLC7A9	NM_014270.5(SLC7A9):c.749+6A>G	noncoding	Benign
19	32860789	T	C	T32860789C	SLC7A9	NM_014270.5(SLC7A9):c.705-139A>G	noncoding	Benign
19	32861864	G	A	G32861864A	SLC7A9	NM_014270.5(SLC7A9):c.704+254C>T	noncoding	Benign
19	32862309	G	A	G32862309A	SLC7A9	NM_014270.5(SLC7A9):c.605-92C>T	noncoding	Benign
19	32862437	A	G	A32862437G	SLC7A9	NM_014270.5(SLC7A9):c.604+24T>C	noncoding	Benign
19	32862460	C	T	C32862460T	SLC7A9	NM_014270.5(SLC7A9):c.604+1G>A	noncoding	Pathogenic
19	32862573	T	C	T32862573C	SLC7A9	NM_014270.5(SLC7A9):c.492A>G:p.Thr164=	coding	Benign
19	32863770	G	A	G32863770A	SLC7A9	NM_014270.5(SLC7A9):c.478+326C>T	noncoding	Benign
19	32864450	C	T	C32864450T	SLC7A9	NM_014270.5(SLC7A9):c.236-112G>A	noncoding	Benign
19	32864607	A	C	A32864607C	SLC7A9	NM_014270.5(SLC7A9):c.235+22T>G	noncoding	Benign
19	32864639	G	A	G32864639A	SLC7A9	NM_014270.5(SLC7A9):c.225C>T:p.Leu75=	coding	Pathogenic
19	32864707	T	A	T32864707A	SLC7A9	NM_014270.5(SLC7A9):c.157A>T:p.Lys53Ter	coding	Pathogenic
19	32864986	G	A	G32864986A	SLC7A9	NM_014270.5(SLC7A9):c.88-210C>T	noncoding	Benign
19	32865045	A	G	A32865045G	SLC7A9	NM_014270.5(SLC7A9):c.88-269T>C	noncoding	Benign
19	32868248	A	G	A32868248G	SLC7A9	NM_014270.5(SLC7A9):c.87+200T>C	noncoding	Benign
19	32868334	A	G	A32868334G	SLC7A9	NM_014270.5(SLC7A9):c.87+114T>C	noncoding	Benign
19	32868486	G	A	G32868486A	SLC7A9	NM_014270.5(SLC7A9):c.49C>T:p.Gln17Ter	coding	Pathogenic
19	32868885	A	T	A32868885T	SLC7A9	NM_014270.5(SLC7A9):c.-111-240T>A	noncoding	Benign
19	32868926	G	A	G32868926A	SLC7A9	NM_014270.5(SLC7A9):c.-111-281C>T	noncoding	Benign
19	32879164	A	G	A32879164G	CEP89	NM_032816.5(CEP89):c.2350T>C:p.Ter784Gln	coding	Benign
19	32879178	T	A	T32879178A	CEP89	NM_032816.5(CEP89):c.2336A>T:p.His779Leu	coding	Benign
19	32879255	A	C	A32879255C	CEP89	NM_032816.5(CEP89):c.2259T>G:p.Val753=	coding	Benign
19	32881908	G	A	G32881908A	CEP89	NM_032816.5(CEP89):c.2071C>T:p.Arg691Trp	coding	Benign
19	32899890	G	A	G32899890A	CEP89	NM_032816.5(CEP89):c.1842C>T:p.Asn614=	coding	Benign
19	32901239	A	T	A32901239T	CEP89	NM_032816.5(CEP89):c.1733+6T>A	noncoding	Benign
19	32915536	A	G	A32915536G	CEP89	NM_032816.5(CEP89):c.1385-19T>C	noncoding	Benign
19	32918279	C	T	C32918279T	CEP89	NM_032816.5(CEP89):c.1329G>A:p.Gln443=	coding	Benign
19	32918357	G	A	G32918357A	CEP89	NM_032816.5(CEP89):c.1269-18C>T	noncoding	Benign
19	32923514	A	G	A32923514G	CEP89	NM_032816.5(CEP89):c.1193T>C:p.Val398Ala	coding	Benign
19	32923559	G	A	G32923559A	CEP89	NM_032816.5(CEP89):c.1165-17C>T	noncoding	Benign
19	32939839	T	A	T32939839A	CEP89	NM_032816.5(CEP89):c.624+18A>T	noncoding	Benign
19	32939840	A	T	A32939840T	CEP89	NM_032816.5(CEP89):c.624+17T>A	noncoding	Benign
19	32948252	T	C	T32948252C	CEP89	NM_032816.5(CEP89):c.595+14A>G	noncoding	Benign
19	32948281	G	A	G32948281A	CEP89	NM_032816.5(CEP89):c.580C>T:p.Arg194Trp	coding	Benign
19	32953613	A	G	A32953613G	CEP89	NM_032816.5(CEP89):c.492+2T>C	noncoding	Benign
19	32953650	T	C	T32953650C	CEP89	NM_032816.5(CEP89):c.457A>G:p.Ser153Gly	coding	Benign
19	32953670	C	T	C32953670T	CEP89	NM_032816.5(CEP89):c.437G>A:p.Arg146Gln	coding	Benign
19	32953682	T	G	T32953682G	CEP89	NM_032816.5(CEP89):c.425A>C:p.Asp142Ala	coding	Benign
19	32953801	C	T	C32953801T	CEP89	NM_032816.5(CEP89):c.306G>A:p.Arg102=	coding	Benign
19	32959886	G	A	G32959886A	CEP89	NM_032816.5(CEP89):c.305+14C>T	noncoding	Benign
19	32959900	C	T	C32959900T	CEP89	NM_032816.5(CEP89):c.305G>A:p.Arg102Gln	coding	Benign
19	32960072	C	T	C32960072T	CEP89	NM_032816.5(CEP89):c.147-14G>A	noncoding	Benign
19	33208703	G	A	G33208703A	SLC7A10	NM_019849.3(SLC7A10):c.*188C>T	noncoding	Benign
19	33209172	C	T	C33209172T	SLC7A10	NM_019849.3(SLC7A10):c.1441+136G>A	noncoding	Benign
19	33209375	C	A	C33209375A	SLC7A10	NM_019849.3(SLC7A10):c.1374G>T:p.Thr458=	coding	Benign
19	33209539	C	T	C33209539T	SLC7A10	NM_019849.3(SLC7A10):c.1264-54G>A	noncoding	Benign
19	33210492	C	T	C33210492T	SLC7A10	NM_019849.3(SLC7A10):c.1238G>A:p.Arg413Gln	coding	Benign
19	33210614	G	A	G33210614A	SLC7A10	NM_019849.3(SLC7A10):c.1116C>T:p.Cys372=	coding	Benign
19	33211339	A	G	A33211339G	SLC7A10	NM_019849.3(SLC7A10):c.913-11T>C	noncoding	Benign
19	33211353	A	G	A33211353G	SLC7A10	NM_019849.3(SLC7A10):c.913-25T>C	noncoding	Benign
19	33212197	C	T	C33212197T	SLC7A10	NM_019849.3(SLC7A10):c.788+95G>A	noncoding	Benign
19	33212466	G	C	G33212466C	SLC7A10	NM_019849.3(SLC7A10):c.635-21C>G	noncoding	Benign
19	33212800	A	G	A33212800G	SLC7A10	NM_019849.3(SLC7A10):c.508+51T>C	noncoding	Benign
19	33215631	C	G	C33215631G	SLC7A10	NM_019849.3(SLC7A10):c.356+138G>C	noncoding	Benign
19	33301376	C	T	C33301376T	CEBPA	NM_004364.5(CEBPA):c.1039G>A:p.Glu347Lys	coding	Pathogenic
19	33301604	C	G	C33301604G	CEBPA	NM_004364.5(CEBPA):c.811G>C:p.Ala271Pro	coding	Benign
19	33301674	C	A	C33301674A	CEBPA	NM_004364.5(CEBPA):c.741G>T:p.Pro247=	coding	Benign
19	33301956	C	T	C33301956T	CEBPA	NM_004364.5(CEBPA):c.459G>A:p.Pro153=	coding	Benign/Likely_benign
19	33302048	C	A	C33302048A	CEBPA	NM_004364.5(CEBPA):c.367G>T:p.Gly123Ter	coding	Pathogenic
19	33302101	T	A	T33302101A	CEBPA	NM_004364.5(CEBPA):c.314A>T:p.Asp105Val	coding	Pathogenic
19	33302240	C	A	C33302240A	CEBPA	NM_004364.5(CEBPA):c.175G>T:p.Glu59Ter	coding	Pathogenic
19	33302524	G	A	G33302524A	CEBPA	NM_004364.5(CEBPA):c.-110C>T	noncoding	Benign
19	33387356	A	G	A33387356G	PEPD	NM_000285.4(PEPD):c.1470T>C:p.Ser490=	coding	Benign/Likely_benign
19	33387441	A	G	A33387441G	PEPD	NM_000285.4(PEPD):c.1385T>C:p.Ile462Thr	coding	Benign/Likely_benign
19	33387501	A	T	A33387501T	PEPD	NM_000285.4(PEPD):c.1345-20T>A	noncoding	Benign
19	33391058	G	T	G33391058T	PEPD	NM_000285.4(PEPD):c.1152+237C>A	noncoding	Benign
19	33391278	G	A	G33391278A	PEPD	NM_000285.4(PEPD):c.1152+17C>T	noncoding	Benign
19	33391552	T	C	T33391552C	PEPD	NM_000285.4(PEPD):c.968-73A>G	noncoding	Benign
19	33391720	T	C	T33391720C	PEPD	NM_000285.4(PEPD):c.968-241A>G	noncoding	Benign
19	33391746	A	G	A33391746G	PEPD	NM_000285.4(PEPD):c.968-267T>C	noncoding	Benign
19	33401503	C	T	C33401503T	PEPD	NM_000285.4(PEPD):c.967+218G>A	noncoding	Benign
19	33401575	C	T	C33401575T	PEPD	NM_000285.4(PEPD):c.967+146G>A	noncoding	Benign
19	33401701	C	G	C33401701G	PEPD	NM_000285.4(PEPD):c.967+20G>C	noncoding	Benign
19	33402102	A	G	A33402102G	PEPD	NM_000285.4(PEPD):c.819-233T>C	noncoding	Benign
19	33411716	G	A	G33411716A	PEPD	NM_000285.4(PEPD):c.774C>T:p.His258=	coding	Benign
19	33411903	A	G	A33411903G	PEPD	NM_000285.4(PEPD):c.741-154T>C	noncoding	Benign
19	33413410	G	T	G33413410T	PEPD	NM_000285.4(PEPD):c.740+165C>A	noncoding	Benign
19	33413448	G	A	G33413448A	PEPD	NM_000285.4(PEPD):c.740+127C>T	noncoding	Benign
19	33413660	G	A	G33413660A	PEPD	NM_000285.4(PEPD):c.672-17C>T	noncoding	Benign
19	33413878	G	A	G33413878A	PEPD	NM_000285.4(PEPD):c.672-235C>T	noncoding	Benign
19	33413923	G	A	G33413923A	PEPD	NM_000285.4(PEPD):c.672-280C>T	noncoding	Benign
19	33462837	A	G	A33462837G	PEPD	NM_000285.4(PEPD):c.671+158T>C	noncoding	Benign
19	33462894	G	A	G33462894A	PEPD	NM_000285.4(PEPD):c.671+101C>T	noncoding	Benign
19	33462925	T	C	T33462925C	PEPD	NM_000285.4(PEPD):c.671+70A>G	noncoding	Benign
19	33463811	C	T	C33463811T	PEPD	NM_000285.4(PEPD):c.624+176G>A	noncoding	Benign
19	33463867	T	A	T33463867A	PEPD	NM_000285.4(PEPD):c.624+120A>T	noncoding	Benign
19	33463971	C	T	C33463971T	PEPD	NM_000285.4(PEPD):c.624+16G>A	noncoding	Benign
19	33464061	G	A	G33464061A	PEPD	NM_000285.4(PEPD):c.550C>T:p.Arg184Ter	coding	Pathogenic
19	33464294	C	G	C33464294G	PEPD	NM_000285.4(PEPD):c.549-232G>C	noncoding	Benign
19	33477809	T	C	T33477809C	PEPD	NM_000285.4(PEPD):c.548+237A>G	noncoding	Benign
19	33478099	C	T	C33478099T	PEPD	NM_000285.4(PEPD):c.504-9G>A	noncoding	Benign/Likely_benign
19	33490087	C	T	C33490087T	PEPD	NM_000285.4(PEPD):c.442-30G>A	noncoding	Benign
19	33490148	G	T	G33490148T	PEPD	NM_000285.4(PEPD):c.442-91C>A	noncoding	Benign
19	33493144	T	C	T33493144C	PEPD	NM_000285.4(PEPD):c.441+146A>G	noncoding	Benign
19	33500716	T	A	T33500716A	PEPD	NM_000285.4(PEPD):c.393+222A>T	noncoding	Benign
19	33500991	T	A	T33500991A	PEPD	NM_000285.4(PEPD):c.340A>T:p.Lys114Ter	coding	Pathogenic
19	33501190	C	T	C33501190T	PEPD	NM_000285.4(PEPD):c.330-189G>A	noncoding	Benign
19	33512349	T	C	T33512349C	PEPD	NM_000285.4(PEPD):c.201+244A>G	noncoding	Benign
19	33512468	G	A	G33512468A	PEPD	NM_000285.4(PEPD):c.201+125C>T	noncoding	Benign
19	33512806	C	T	C33512806T	PEPD	NM_000285.4(PEPD):c.18-30G>A	noncoding	Benign
19	33513040	A	C	A33513040C	PEPD	NM_000285.4(PEPD):c.18-264T>G	noncoding	Benign
19	33521759	A	C	A33521759C	PEPD	NM_000285.4(PEPD):c.2T>G:p.Met1Arg	coding	Pathogenic
19	33521955	C	T	C33521955T	PEPD	Single_allele	noncoding	Benign
19	33522235	G	A	G33522235A	PEPD	Single_allele	noncoding	Benign
19	33689140	C	T	C33689140T	CHST8	NM_001127895.2(CHST8):c.-86-36C>T	noncoding	Benign
19	33771514	G	A	G33771514A	CHST8	NM_001127895.2(CHST8):c.168+64G>A	noncoding	Benign
19	33772652	G	T	G33772652T	CHST8	NM_001127895.2(CHST8):c.864G>T:p.Leu288=	coding	Benign
19	34368552	G	A	G34368552A	GPI	NM_000175.5(GPI):c.283-31G>A	noncoding	Benign
19	34368586	C	T	C34368586T	GPI	NM_000175.5(GPI):c.286C>T:p.Arg96Ter	coding	Pathogenic
19	34368601	G	A	G34368601A	GPI	NM_000175.5(GPI):c.301G>A:p.Val101Met	coding	Pathogenic
19	34377593	A	G	A34377593G	GPI	NM_000175.5(GPI):c.486+7A>G	noncoding	Benign
19	34377871	T	C	T34377871C	GPI	NM_000175.5(GPI):c.623T>C:p.Ile208Thr	coding	Benign/Likely_benign
19	34379351	C	T	C34379351T	GPI	NM_000175.5(GPI):c.706-167C>T	noncoding	Benign
19	34379802	G	A	G34379802A	GPI	NM_000175.5(GPI):c.750+240G>A	noncoding	Benign
19	34393952	C	A	C34393952A	GPI	NM_000175.5(GPI):c.948C>A:p.Ala316=	coding	Benign
19	34394013	G	A	G34394013A	GPI	NM_000175.5(GPI):c.1009G>A:p.Ala337Thr	coding	Pathogenic
19	34394043	C	T	C34394043T	GPI	NM_000175.5(GPI):c.1039C>T:p.Arg347Cys	coding	Pathogenic
19	34394101	A	G	A34394101G	GPI	NM_000175.5(GPI):c.1062+35A>G	noncoding	Benign
19	34396382	G	T	G34396382T	GPI	NM_000175.5(GPI):c.1144G>T:p.Glu382Ter	coding	Pathogenic
19	34399417	G	A	G34399417A	GPI	NM_000175.5(GPI):c.1398+82G>A	noncoding	Benign
19	34399571	C	T	C34399571T	GPI	NM_000175.5(GPI):c.1414C>T:p.Arg472Cys	coding	Pathogenic
19	34451967	A	T	A34451967T	UBA2	NM_005499.3(UBA2):c.872-14A>T	noncoding	Benign
19	35032713	C	T	C35032713T	SCN1B	NM_001037.5(SCN1B):c.207+19C>T	noncoding	Benign/Likely_benign
19	35032728	A	C	A35032728C	SCN1B	NM_001037.5(SCN1B):c.207+34A>C	noncoding	Benign
19	35033310	G	A	G35033310A	SCN1B	NM_001037.5(SCN1B):c.208-189G>A	noncoding	Benign
19	35033378	T	A	T35033378A	SCN1B	NM_001037.5(SCN1B):c.208-121T>A	noncoding	Benign
19	35033405	T	G	T35033405G	SCN1B	NM_001037.5(SCN1B):c.208-94T>G	noncoding	Benign
19	35033705	C	T	C35033705T	SCN1B	NM_001037.5(SCN1B):c.414C>T:p.Val138=	coding	Benign/Likely_benign
19	35033787	A	C	A35033787C	SCN1B	NM_001037.5(SCN1B):c.448+48A>C	coding	Benign/Likely_benign
19	35034038	A	G	A35034038G	SCN1B	NM_001037.5(SCN1B):c.448+299A>G	coding	Benign/Likely_benign
19	35034059	C	T	C35034059T	SCN1B	NM_001037.5(SCN1B):c.448+320C>T	coding	Benign/Likely_benign
19	35034076	G	A	G35034076A	SCN1B	NM_001037.5(SCN1B):c.448+337G>A	coding	Benign/Likely_benign
19	35034085	G	A	G35034085A	SCN1B	NM_001037.5(SCN1B):c.448+346G>A	coding	Benign
19	35034183	G	A	G35034183A	SCN1B	NM_001037.5(SCN1B):c.448+444G>A	coding	Benign
19	35038888	C	T	C35038888T	SCN1B	NM_001037.5(SCN1B):c.449-229C>T	noncoding	Benign
19	35039092	C	T	C35039092T	SCN1B	NM_001037.5(SCN1B):c.449-25C>T	noncoding	Benign
19	35039485	A	G	A35039485G	SCN1B	NM_001037.5(SCN1B):c.591-150A>G	noncoding	Benign
19	35039610	T	G	T35039610G	SCN1B	NM_001037.5(SCN1B):c.591-25T>G	noncoding	Benign
19	35039613	A	T	A35039613T	SCN1B	NM_001037.5(SCN1B):c.591-22A>T	noncoding	Benign
19	35039737	G	A	G35039737A	SCN1B	NM_001037.5(SCN1B):c.*5+31G>A	noncoding	Benign
19	35125091	C	T	C35125091T	LGI4	NM_139284.3(LGI4):c.*102G>A	noncoding	Benign
19	35125112	G	A	G35125112A	LGI4	NM_139284.3(LGI4):c.*81C>T	noncoding	Benign
19	35125182	C	T	C35125182T	LGI4	NM_139284.3(LGI4):c.*11G>A	noncoding	Benign
19	35125183	G	A	G35125183A	LGI4	NM_139284.3(LGI4):c.*10C>T	noncoding	Benign
19	35125411	G	A	G35125411A	LGI4	NM_139284.3(LGI4):c.1396C>T:p.Leu466=	coding	Benign
19	35125412	C	T	C35125412T	LGI4	NM_139284.3(LGI4):c.1395G>A:p.Gln465=	coding	Benign
19	35125560	G	C	G35125560C	LGI4	NM_139284.3(LGI4):c.1300-53C>G	noncoding	Benign
19	35125641	G	A	G35125641A	LGI4	NM_139284.3(LGI4):c.1300-134C>T	noncoding	Benign
19	35125658	C	G	C35125658G	LGI4	NM_139284.3(LGI4):c.1300-151G>C	noncoding	Benign
19	35126049	T	C	T35126049C	LGI4	NM_139284.3(LGI4):c.1299+221A>G	noncoding	Benign
19	35126218	A	G	A35126218G	LGI4	NM_139284.3(LGI4):c.1299+52T>C	noncoding	Benign
19	35126366	T	C	T35126366C	LGI4	NM_139284.3(LGI4):c.1203A>G:p.Thr401=	coding	Benign
19	35126735	C	G	C35126735G	LGI4	NM_139284.3(LGI4):c.834G>C:p.Pro278=	coding	Benign
19	35131588	C	T	C35131588T	LGI4	NM_139284.3(LGI4):c.459-33G>A	noncoding	Benign
19	35131791	A	G	A35131791G	LGI4	NM_139284.3(LGI4):c.456T>C:p.His152=	coding	Benign
19	35133644	G	A	G35133644A	LGI4	NM_139284.3(LGI4):c.314+49C>T	noncoding	Benign
19	35133986	C	T	C35133986T	LGI4	NM_139284.3(LGI4):c.242+47G>A	noncoding	Benign
19	35134090	G	A	G35134090A	LGI4	NM_139284.3(LGI4):c.185C>T:p.Thr62Met	coding	Benign
19	35134414	G	A	G35134414A	LGI4	NM_139284.3(LGI4):c.170+97C>T	noncoding	Benign
19	35135420	T	G	T35135420G	LGI4	Single_allele	noncoding	Benign
19	35135421	T	A	T35135421A	LGI4	Single_allele	noncoding	Benign
19	35135445	C	T	C35135445T	LGI4	Single_allele	noncoding	Benign
19	35135469	G	A	G35135469A	LGI4	Single_allele	noncoding	Benign
19	35281996	A	G	A35281996G	HAMP	NC_000019.9:g.35772899A>G	noncoding	Benign
19	35282506	C	T	C35282506T	HAMP	NC_000019.9:g.35773409C>T	noncoding	Benign
19	35282553	G	A	G35282553A	HAMP	NM_021175.4(HAMP):c.-25G>A	noncoding	Pathogenic
19	35284492	G	A	G35284492A	HAMP	NM_021175.4(HAMP):c.91-297G>A	noncoding	Benign
19	35284538	A	G	A35284538G	HAMP	NM_021175.4(HAMP):c.91-251A>G	noncoding	Benign
19	35284723	C	T	C35284723T	HAMP	NM_021175.4(HAMP):c.91-66C>T	noncoding	Benign
19	35284999	G	A	G35284999A	HAMP	NM_021175.4(HAMP):c.212G>A:p.Gly71Asp	coding	Benign/Likely_benign
19	35295596	C	T	C35295596T	MAG	NM_002361.4(MAG):c.47-17C>T	noncoding	Benign
19	35295965	C	T	C35295965T	MAG	NM_002361.4(MAG):c.399C>T:p.Ser133=	coding	Benign
19	35299600	G	A	G35299600A	MAG	NM_002361.4(MAG):c.462G>A:p.Glu154=	coding	Benign
19	35299741	G	A	G35299741A	MAG	NM_002361.4(MAG):c.603G>A:p.Leu201=	coding	Benign
19	35299742	C	A	C35299742A	MAG	NM_002361.4(MAG):c.604C>A:p.Leu202Met	coding	Benign
19	35302263	C	T	C35302263T	MAG	NM_002361.4(MAG):c.971-185C>T	noncoding	Benign
19	35302444	G	A	G35302444A	MAG	NM_002361.4(MAG):c.971-4G>A	noncoding	Benign
19	35302686	C	T	C35302686T	MAG	NM_002361.4(MAG):c.1209C>T:p.Thr403=	coding	Benign
19	35309759	G	T	G35309759T	MAG	NM_002361.4(MAG):c.1232-115G>T	noncoding	Benign
19	35309817	G	C	G35309817C	MAG	NM_002361.4(MAG):c.1232-57G>C	noncoding	Benign
19	35310318	G	C	G35310318C	MAG	NM_002361.4(MAG):c.1519+157G>C	noncoding	Benign
19	35311755	G	A	G35311755A	MAG	NM_002361.4(MAG):c.1617-163G>A	noncoding	Benign
19	35311901	C	T	C35311901T	MAG	NM_002361.4(MAG):c.1617-17C>T	noncoding	Benign
19	35312035	G	C	G35312035C	MAG	NM_002361.4(MAG):c.1716+18G>C	noncoding	Benign
19	35545758	G	C	G35545758C	TMEM147	NM_032635.4(TMEM147):c.19G>C:p.Gly7Arg	coding	Pathogenic
19	35545802	C	G	C35545802G	TMEM147	NM_032635.4(TMEM147):c.63C>G:p.Tyr21Ter	coding	Pathogenic
19	35546813	G	A	G35546813A	TMEM147	NM_032635.4(TMEM147):c.344+5G>A	noncoding	Pathogenic
19	35546944	G	T	G35546944T	TMEM147	NM_032635.4(TMEM147):c.345-1G>T	noncoding	Pathogenic
19	35546990	G	A	G35546990A	TMEM147	NM_032635.4(TMEM147):c.390G>A:p.Trp130Ter	coding	Pathogenic
19	35546998	T	A	T35546998A	TMEM147	NM_032635.4(TMEM147):c.398T>A:p.Ile133Asn	coding	Pathogenic
19	35547175	C	G	C35547175G	TMEM147	NM_032635.4(TMEM147):c.486C>G:p.Tyr162Ter	coding	Pathogenic
19	35547185	C	T	C35547185T	TMEM147	NM_032635.4(TMEM147):c.496C>T:p.Arg166Trp	coding	Pathogenic
19	35555063	G	A	G35555063A	ATP4A	NM_000704.3(ATP4A):c.2340C>T:p.Phe780=	coding	Benign
19	35555665	G	T	G35555665T	ATP4A	NM_000704.3(ATP4A):c.2006+11C>A	noncoding	Benign
19	35557839	G	T	G35557839T	ATP4A	NM_000704.3(ATP4A):c.1509C>A:p.Ile503=	coding	Benign
19	35558357	C	A	C35558357A	ATP4A	NM_000704.3(ATP4A):c.1500+5G>T	noncoding	Benign
19	35560067	A	G	A35560067G	ATP4A	NM_000704.3(ATP4A):c.794T>C:p.Val265Ala	coding	Benign
19	35560092	G	A	G35560092A	ATP4A	NM_000704.3(ATP4A):c.788-19C>T	noncoding	Benign
19	35560918	G	A	G35560918A	ATP4A	NM_000704.3(ATP4A):c.435C>T:p.Ile145=	coding	Benign
19	35562546	G	A	G35562546A	ATP4A	NM_000704.3(ATP4A):c.309C>T:p.Phe103=	coding	Benign
19	35648270	G	A	G35648270A	COX6B1	NM_001863.4(COX6B1):c.-145G>A	noncoding	Benign/Likely_benign
19	35654526	G	A	G35654526A	COX6B1	NM_001863.5(COX6B1):c.107-45G>A	noncoding	Benign
19	35654555	A	G	A35654555G	COX6B1	NM_001863.5(COX6B1):c.107-16A>G	noncoding	Benign/Likely_benign
19	35658548	C	T	C35658548T	COX6B1	NM_001863.5(COX6B1):c.208-46C>T	noncoding	Benign
19	35658859	A	G	A35658859G	COX6B1	Single_allele	noncoding	Benign
19	35719453	C	T	C35719453T	KMT2B	NM_014727.3(KMT2B):c.364-16C>T	noncoding	Benign/Likely_benign
19	35719801	C	T	C35719801T	KMT2B	NM_014727.3(KMT2B):c.454C>T:p.Arg152Trp	coding	Benign/Likely_benign
19	35719994	C	A	C35719994A	KMT2B	NM_014727.3(KMT2B):c.647C>A:p.Pro216His	coding	Benign
19	35719994	C	G	C35719994G	KMT2B	NM_014727.3(KMT2B):c.647C>G:p.Pro216Arg	coding	Benign
19	35720216	G	A	G35720216A	KMT2B	NM_014727.3(KMT2B):c.869G>A:p.Arg290His	coding	Benign
19	35720232	C	T	C35720232T	KMT2B	NM_014727.3(KMT2B):c.885C>T:p.Arg295=	coding	Benign/Likely_benign
19	35720457	A	G	A35720457G	KMT2B	NM_014727.3(KMT2B):c.1110A>G:p.Glu370=	coding	Benign
19	35720516	T	C	T35720516C	KMT2B	NM_014727.3(KMT2B):c.1169T>C:p.Met390Thr	coding	Benign/Likely_benign
19	35720559	G	A	G35720559A	KMT2B	NM_014727.3(KMT2B):c.1212G>A:p.Pro404=	coding	Benign
19	35720745	C	T	C35720745T	KMT2B	NM_014727.3(KMT2B):c.1398C>T:p.Ser466=	coding	Benign
19	35720818	G	A	G35720818A	KMT2B	NM_014727.3(KMT2B):c.1471G>A:p.Gly491Ser	coding	Benign/Likely_benign
19	35720840	C	A	C35720840A	KMT2B	NM_014727.3(KMT2B):c.1493C>A:p.Thr498Asn	coding	Benign
19	35720851	G	A	G35720851A	KMT2B	NM_014727.3(KMT2B):c.1504G>A:p.Ala502Thr	coding	Benign
19	35720922	G	A	G35720922A	KMT2B	NM_014727.3(KMT2B):c.1575G>A:p.Arg525=	coding	Benign/Likely_benign
19	35721194	G	A	G35721194A	KMT2B	NM_014727.3(KMT2B):c.1847G>A:p.Arg616Gln	coding	Benign
19	35721207	T	C	T35721207C	KMT2B	NM_014727.3(KMT2B):c.1860T>C:p.Pro620=	coding	Benign
19	35721225	A	C	A35721225C	KMT2B	NM_014727.3(KMT2B):c.1878A>C:p.Pro626=	coding	Benign
19	35721228	T	C	T35721228C	KMT2B	NM_014727.3(KMT2B):c.1881T>C:p.Pro627=	coding	Benign
19	35721234	G	A	G35721234A	KMT2B	NM_014727.3(KMT2B):c.1887G>A:p.Pro629=	coding	Benign
19	35721258	T	C	T35721258C	KMT2B	NM_014727.3(KMT2B):c.1911T>C:p.Pro637=	coding	Benign
19	35721457	C	T	C35721457T	KMT2B	NM_014727.3(KMT2B):c.2110C>T:p.Leu704=	coding	Benign
19	35721608	C	T	C35721608T	KMT2B	NM_014727.3(KMT2B):c.2261C>T:p.Pro754Leu	coding	Benign/Likely_benign
19	35721638	C	A	C35721638A	KMT2B	NM_014727.3(KMT2B):c.2291C>A:p.Pro764Gln	coding	Benign
19	35722390	C	A	C35722390A	KMT2B	NM_014727.3(KMT2B):c.2489C>A:p.Ala830Asp	coding	Benign
19	35722559	C	T	C35722559T	KMT2B	NM_014727.3(KMT2B):c.2572-9C>T	noncoding	Benign
19	35722766	C	T	C35722766T	KMT2B	NM_014727.3(KMT2B):c.2722+48C>T	noncoding	Benign
19	35722951	G	A	G35722951A	KMT2B	NM_014727.3(KMT2B):c.2723-44G>A	noncoding	Benign
19	35723286	G	A	G35723286A	KMT2B	NM_014727.3(KMT2B):c.3002+12G>A	noncoding	Benign/Likely_benign
19	35723872	C	T	C35723872T	KMT2B	NM_014727.3(KMT2B):c.3199C>T:p.Gln1067Ter	coding	Pathogenic
19	35723964	C	T	C35723964T	KMT2B	NM_014727.3(KMT2B):c.3291C>T:p.Pro1097=	coding	Benign
19	35725142	A	G	A35725142G	KMT2B	NM_014727.3(KMT2B):c.3528+55A>G	noncoding	Benign
19	35725155	G	T	G35725155T	KMT2B	NM_014727.3(KMT2B):c.3529-65G>T	noncoding	Benign
19	35725367	C	A	C35725367A	KMT2B	NM_014727.3(KMT2B):c.3642+34C>A	noncoding	Benign
19	35725466	A	T	A35725466T	KMT2B	NM_014727.3(KMT2B):c.3643-13A>T	noncoding	Benign
19	35725547	G	A	G35725547A	KMT2B	NM_014727.3(KMT2B):c.3711G>A:p.Leu1237=	coding	Benign
19	35726432	C	T	C35726432T	KMT2B	NM_014727.3(KMT2B):c.4003+79C>T	noncoding	Benign
19	35726909	G	A	G35726909A	KMT2B	NM_014727.3(KMT2B):c.4004-247G>A	noncoding	Benign
19	35726983	C	A	C35726983A	KMT2B	NM_014727.3(KMT2B):c.4004-173C>A	noncoding	Benign
19	35727056	A	G	A35727056G	KMT2B	NM_014727.3(KMT2B):c.4004-100A>G	noncoding	Benign
19	35727139	C	T	C35727139T	KMT2B	NM_014727.3(KMT2B):c.4004-17C>T	noncoding	Benign
19	35727577	C	T	C35727577T	KMT2B	NM_014727.3(KMT2B):c.4257C>T:p.Gly1419=	coding	Benign
19	35727685	C	T	C35727685T	KMT2B	NM_014727.3(KMT2B):c.4303-13C>T	noncoding	Benign/Likely_benign
19	35728203	G	A	G35728203A	KMT2B	NM_014727.3(KMT2B):c.4571+32G>A	noncoding	Benign
19	35728308	A	G	A35728308G	KMT2B	NM_014727.3(KMT2B):c.4571+137A>G	noncoding	Benign
19	35728340	A	G	A35728340G	KMT2B	NM_014727.3(KMT2B):c.4571+169A>G	noncoding	Benign
19	35728624	A	G	A35728624G	KMT2B	NM_014727.3(KMT2B):c.4572-150A>G	noncoding	Benign
19	35728801	C	T	C35728801T	KMT2B	NM_014727.3(KMT2B):c.4599C>T:p.Pro1533=	coding	Benign
19	35728970	A	C	A35728970C	KMT2B	NM_014727.3(KMT2B):c.4688-15A>C	noncoding	Benign/Likely_benign
19	35729145	C	T	C35729145T	KMT2B	NM_014727.3(KMT2B):c.4780-14C>T	noncoding	Benign
19	35729236	C	T	C35729236T	KMT2B	NM_014727.3(KMT2B):c.4857C>T:p.Phe1619=	coding	Benign
19	35729529	A	G	A35729529G	KMT2B	NM_014727.3(KMT2B):c.4917+233A>G	noncoding	Benign
19	35729587	C	T	C35729587T	KMT2B	NM_014727.3(KMT2B):c.4917+291C>T	noncoding	Benign
19	35730122	C	T	C35730122T	KMT2B	NM_014727.3(KMT2B):c.5073C>T:p.Gly1691=	coding	Pathogenic
19	35730150	G	A	G35730150A	KMT2B	NM_014727.3(KMT2B):c.5076+25G>A	noncoding	Benign
19	35730331	C	T	C35730331T	KMT2B	NM_014727.3(KMT2B):c.5077-11C>T	noncoding	Benign/Likely_benign
19	35730688	G	A	G35730688A	KMT2B	NM_014727.3(KMT2B):c.5277-19G>A	noncoding	Benign
19	35731109	C	T	C35731109T	KMT2B	NM_014727.3(KMT2B):c.5437+242C>T	noncoding	Benign
19	35731122	T	C	T35731122C	KMT2B	NM_014727.3(KMT2B):c.5437+255T>C	noncoding	Benign
19	35731718	C	T	C35731718T	KMT2B	NM_014727.3(KMT2B):c.5438-190C>T	noncoding	Benign
19	35731956	C	T	C35731956T	KMT2B	NM_014727.3(KMT2B):c.5486C>T:p.Pro1829Leu	coding	Benign
19	35732172	G	A	G35732172A	KMT2B	NM_014727.3(KMT2B):c.5665+37G>A	noncoding	Benign
19	35732210	C	A	C35732210A	KMT2B	NM_014727.3(KMT2B):c.5666-5C>A	noncoding	Benign
19	35732210	C	G	C35732210G	KMT2B	NM_014727.3(KMT2B):c.5666-5C>G	noncoding	Benign
19	35732322	C	G	C35732322G	KMT2B	NM_014727.3(KMT2B):c.5773C>G:p.Pro1925Ala	coding	Benign
19	35732774	G	A	G35732774A	KMT2B	NM_014727.3(KMT2B):c.6225G>A:p.Val2075=	coding	Benign
19	35732846	A	G	A35732846G	KMT2B	NM_014727.3(KMT2B):c.6297A>G:p.Ala2099=	coding	Benign
19	35732879	A	G	A35732879G	KMT2B	NM_014727.3(KMT2B):c.6330A>G:p.Pro2110=	coding	Benign
19	35733229	C	T	C35733229T	KMT2B	NM_014727.3(KMT2B):c.6680C>T:p.Thr2227Met	coding	Benign
19	35733272	C	T	C35733272T	KMT2B	NM_014727.3(KMT2B):c.6723C>T:p.Gly2241=	coding	Benign
19	35733308	G	C	G35733308C	KMT2B	NM_014727.3(KMT2B):c.6759G>C:p.Pro2253=	coding	Benign
19	35733314	G	C	G35733314C	KMT2B	NM_014727.3(KMT2B):c.6765G>C:p.Pro2255=	coding	Benign
19	35733317	A	C	A35733317C	KMT2B	NM_014727.3(KMT2B):c.6768A>C:p.Pro2256=	coding	Benign
19	35733323	T	C	T35733323C	KMT2B	NM_014727.3(KMT2B):c.6774T>C:p.Pro2258=	coding	Benign
19	35733804	A	G	A35733804G	KMT2B	NM_014727.3(KMT2B):c.7091A>G:p.Asp2364Gly	coding	Benign
19	35733891	C	T	C35733891T	KMT2B	NM_014727.3(KMT2B):c.7159+19C>T	noncoding	Benign
19	35734072	T	C	T35734072C	KMT2B	NM_014727.3(KMT2B):c.7159+200T>C	noncoding	Benign
19	35736909	C	T	C35736909T	KMT2B	NM_014727.3(KMT2B):c.7298-3C>T	noncoding	Benign
19	35737488	C	G	C35737488G	KMT2B	NM_014727.3(KMT2B):c.7551-148C>G	noncoding	Benign
19	35737530	A	T	A35737530T	KMT2B	NM_014727.3(KMT2B):c.7551-106A>T	noncoding	Benign
19	35737766	C	T	C35737766T	KMT2B	NM_014727.3(KMT2B):c.7658+23C>T	noncoding	Benign
19	35737843	T	A	T35737843A	KMT2B	NM_014727.3(KMT2B):c.7659-16T>A	noncoding	Benign
19	35738053	G	T	G35738053T	KMT2B	NM_014727.3(KMT2B):c.7743-9G>T	noncoding	Benign
19	35738576	C	T	C35738576T	KMT2B	NM_014727.3(KMT2B):c.*19C>T	noncoding	Benign
19	35738623	C	T	C35738623T	KMT2B	NM_014727.3(KMT2B):c.*66C>T	noncoding	Benign
19	35738738	C	T	C35738738T	KMT2B	NM_014727.3(KMT2B):c.*181C>T	noncoding	Benign
19	35782632	G	A	G35782632A	ARHGAP33	NM_001366178.1(ARHGAP33):c.1266G>A:p.Leu422=	coding	Benign
19	35826681	G	C	G35826681C	NPHS1	NM_004646.4(NPHS1):c.3595-36C>G	noncoding	Benign
19	35830623	C	T	C35830623T	NPHS1	NM_004646.4(NPHS1):c.3594+221G>A	noncoding	Benign
19	35831008	G	A	G35831008A	NPHS1	NM_004646.4(NPHS1):c.3481+45C>T	noncoding	Benign
19	35831554	G	A	G35831554A	NPHS1	NM_004646.4(NPHS1):c.3287-54C>T	noncoding	Benign
19	35831607	G	A	G35831607A	NPHS1	NM_004646.4(NPHS1):c.3286+36C>T	noncoding	Benign
19	35839623	T	C	T35839623C	NPHS1	NM_004646.4(NPHS1):c.2816-16A>G	noncoding	Benign
19	35841425	G	A	G35841425A	NPHS1	NM_004646.4(NPHS1):c.2815+290C>T	noncoding	Benign
19	35841785	G	A	G35841785A	NPHS1	NM_004646.4(NPHS1):c.2745C>T:p.Tyr915=	coding	Benign
19	35841844	G	A	G35841844A	NPHS1	NM_004646.4(NPHS1):c.2686C>T:p.Gln896Ter	coding	Pathogenic
19	35842187	C	T	C35842187T	NPHS1	NM_004646.4(NPHS1):c.2600G>A:p.Gly867Asp	coding	Pathogenic/Likely_pathogenic
19	35842191	G	A	G35842191A	NPHS1	NM_004646.4(NPHS1):c.2596C>T:p.Arg866Ter	coding	Pathogenic/Likely_pathogenic
19	35842200	A	G	A35842200G	NPHS1	NM_004646.4(NPHS1):c.2587T>C:p.Cys863Arg	coding	Pathogenic
19	35842394	G	A	G35842394A	NPHS1	NM_004646.4(NPHS1):c.2491C>T:p.Arg831Cys	coding	Pathogenic/Likely_pathogenic
19	35842481	G	A	G35842481A	NPHS1	NM_004646.4(NPHS1):c.2404C>T:p.Arg802Trp	coding	Pathogenic
19	35842481	G	T	G35842481T	NPHS1	NM_004646.4(NPHS1):c.2404C>A:p.Arg802=	coding	Benign
19	35842552	T	C	T35842552C	NPHS1	NM_004646.4(NPHS1):c.2335-2A>G	noncoding	Pathogenic
19	35843280	G	A	G35843280A	NPHS1	NM_004646.4(NPHS1):c.2334+192C>T	noncoding	Benign
19	35843579	G	A	G35843579A	NPHS1	NM_004646.4(NPHS1):c.2227C>T:p.Arg743Cys	coding	Pathogenic/Likely_pathogenic
19	35843700	G	A	G35843700A	NPHS1	NM_004646.4(NPHS1):c.2213-107C>T	noncoding	Benign
19	35844184	G	T	G35844184T	NPHS1	NM_004646.4(NPHS1):c.2131C>A:p.Arg711Ser	coding	Pathogenic
19	35844195	C	T	C35844195T	NPHS1	NM_004646.4(NPHS1):c.2120G>A:p.Trp707Ter	coding	Pathogenic/Likely_pathogenic
19	35844436	G	A	G35844436A	NPHS1	NM_004646.4(NPHS1):c.1954C>T:p.Gln652Ter	coding	Pathogenic
19	35845919	T	C	T35845919C	NPHS1	NM_004646.4(NPHS1):c.1627+89A>G	noncoding	Benign
19	35846117	C	G	C35846117G	NPHS1	NM_004646.4(NPHS1):c.1518G>C:p.Gly506=	coding	Benign
19	35848022	G	A	G35848022A	NPHS1	NM_004646.4(NPHS1):c.1440+19C>T	noncoding	Benign
19	35848147	C	T	C35848147T	NPHS1	NM_004646.4(NPHS1):c.1334G>A:p.Trp445Ter	coding	Pathogenic/Likely_pathogenic
19	35848289	C	A	C35848289A	NPHS1	NM_004646.4(NPHS1):c.1279G>T:p.Glu427Ter	coding	Pathogenic
19	35848349	G	A	G35848349A	NPHS1	NM_004646.4(NPHS1):c.1219C>T:p.Arg407Trp	coding	Pathogenic/Likely_pathogenic
19	35848483	G	A	G35848483A	NPHS1	NM_004646.4(NPHS1):c.1171-86C>T	noncoding	Benign
19	35848672	G	A	G35848672A	NPHS1	NM_004646.4(NPHS1):c.1135C>T:p.Arg379Trp	coding	Pathogenic
19	35848686	C	T	C35848686T	NPHS1	NM_004646.4(NPHS1):c.1121G>A:p.Trp374Ter	coding	Pathogenic
19	35848690	G	A	G35848690A	NPHS1	NM_004646.4(NPHS1):c.1117C>T:p.Arg373Ter	coding	Pathogenic
19	35848908	T	C	T35848908C	NPHS1	NM_004646.4(NPHS1):c.1012+68A>G	noncoding	Benign
19	35849122	C	T	C35849122T	NPHS1	NM_004646.4(NPHS1):c.866G>A:p.Trp289Ter	coding	Pathogenic/Likely_pathogenic
19	35849210	T	A	T35849210A	NPHS1	NM_004646.4(NPHS1):c.840+26A>T	noncoding	Benign
19	35849281	G	T	G35849281T	NPHS1	NM_004646.4(NPHS1):c.795C>A:p.Cys265Ter	coding	Pathogenic
19	35849570	G	T	G35849570T	NPHS1	NM_004646.4(NPHS1):c.692C>A:p.Ser231Ter	coding	Pathogenic
19	35849955	A	G	A35849955G	NPHS1	NM_004646.4(NPHS1):c.609-302T>C	noncoding	Benign
19	35850699	G	C	G35850699C	NPHS1	NM_004646.4(NPHS1):c.527-254C>G	noncoding	Benign
19	35851008	C	T	C35851008T	NPHS1	NM_004646.4(NPHS1):c.479G>A:p.Cys160Tyr	coding	Pathogenic
19	35851037	C	T	C35851037T	NPHS1	NM_004646.4(NPHS1):c.450G>A:p.Trp150Ter	coding	Pathogenic
19	35851151	C	T	C35851151T	NPHS1	NM_004646.4(NPHS1):c.398-62G>A	noncoding	Benign
19	35851155	A	G	A35851155G	NPHS1	NM_004646.4(NPHS1):c.398-66T>C	noncoding	Benign
19	35851201	T	C	T35851201C	NPHS1	NM_004646.4(NPHS1):c.397+61A>G	noncoding	Benign
19	35851247	G	A	G35851247A	NPHS1	NM_004646.4(NPHS1):c.397+15C>T	noncoding	Benign/Likely_benign
19	35851337	C	A	C35851337A	NPHS1	NM_004646.4(NPHS1):c.322G>T:p.Glu108Ter	coding	Pathogenic
19	35851482	G	C	G35851482C	NPHS1	NM_004646.4(NPHS1):c.249C>G:p.Tyr83Ter	coding	Pathogenic
19	35851626	C	T	C35851626T	NPHS1	NM_004646.4(NPHS1):c.105G>A:p.Trp35Ter	coding	Pathogenic
19	35852007	A	G	A35852007G	NPHS1	NM_004646.3(NPHS1):c.-170T>C	noncoding	Benign/Likely_benign
19	35852177	C	G	C35852177G	NPHS1	NM_004646.4(NPHS1):c.-340G>C	noncoding	Benign
19	35904825	C	T	C35904825T	TYROBP	NM_003332.4(TYROBP):c.277-191G>A	noncoding	Benign
19	35907691	C	T	C35907691T	TYROBP	NM_003332.4(TYROBP):c.94+39G>A	noncoding	Benign
19	35907997	C	T	C35907997T	TYROBP	NM_003332.4(TYROBP):c.61+171G>A	noncoding	Benign
19	35908331	G	A	G35908331A	TYROBP	Single_allele	noncoding	Benign
19	35908444	C	T	C35908444T	TYROBP	Single_allele	noncoding	Benign
19	35994893	A	C	A35994893C	SDHAF1	Single_allele	noncoding	Benign
19	35995039	C	T	C35995039T	SDHAF1	Single_allele	noncoding	Benign
19	35995302	C	T	C35995302T	SDHAF1	NM_001042631.3(SDHAF1):c.28C>T:p.Gln10Ter	coding	Pathogenic
19	35995444	G	A	G35995444A	SDHAF1	NM_001042631.3(SDHAF1):c.170G>A:p.Gly57Glu	coding	Pathogenic
19	35995778	G	T	G35995778T	SDHAF1	NM_001042631.3(SDHAF1):c.*156G>T	noncoding	Benign/Likely_benign
19	36005219	A	G	A36005219G	SYNE4	NM_001039876.3(SYNE4):c.972+114T>C	noncoding	Benign
19	36006926	G	A	G36006926A	SYNE4	NM_001039876.3(SYNE4):c.442C>T:p.Arg148Ter	coding	Pathogenic
19	36006961	A	G	A36006961G	SYNE4	NM_001039876.3(SYNE4):c.424-17T>C	noncoding	Benign
19	36007513	T	C	T36007513C	SYNE4	NM_001039876.3(SYNE4):c.280-245A>G	noncoding	Benign
19	36007919	G	C	G36007919C	SYNE4	NM_001039876.3(SYNE4):c.279+298C>G	noncoding	Benign
19	36008384	G	A	G36008384A	SYNE4	NM_001039876.3(SYNE4):c.129-17C>T	noncoding	Benign/Likely_benign
19	36008510	C	T	C36008510T	SYNE4	NM_001039876.3(SYNE4):c.128+44G>A	noncoding	Benign
19	36058890	C	T	C36058890T	WDR62	NM_001083961.2(WDR62):c.269+19C>T	noncoding	Benign/Likely_benign
19	36059875	T	C	T36059875C	WDR62	NM_001083961.2(WDR62):c.270-93T>C	noncoding	Benign
19	36066471	C	G	C36066471G	WDR62	NM_001083961.2(WDR62):c.561+44C>G	noncoding	Benign
19	36066707	G	C	G36066707C	WDR62	NM_001083961.2(WDR62):c.561+280G>C	noncoding	Benign
19	36067459	T	C	T36067459C	WDR62	NM_001083961.2(WDR62):c.699+16T>C	noncoding	Benign/Likely_benign
19	36067859	C	T	C36067859T	WDR62	NM_001083961.2(WDR62):c.731C>T:p.Ser244Leu	coding	Pathogenic
19	36068046	T	A	T36068046A	WDR62	NM_001083961.2(WDR62):c.882+36T>A	noncoding	Benign
19	36073147	G	T	G36073147T	WDR62	NM_001083961.2(WDR62):c.1044-195G>T	noncoding	Benign
19	36073806	T	G	T36073806G	WDR62	NM_001083961.2(WDR62):c.1233+275T>G	noncoding	Benign
19	36081518	G	A	G36081518A	WDR62	NM_001083961.2(WDR62):c.1319G>A:p.Trp440Ter	coding	Pathogenic
19	36081821	C	T	C36081821T	WDR62	NM_001083961.2(WDR62):c.1371+251C>T	noncoding	Benign
19	36089624	G	C	G36089624C	WDR62	NM_001083961.2(WDR62):c.1958+318G>C	noncoding	Benign
19	36090425	A	G	A36090425G	WDR62	NM_001083961.2(WDR62):c.1959-20A>G	noncoding	Benign/Likely_benign
19	36090734	G	A	G36090734A	WDR62	NM_001083961.2(WDR62):c.2034+214G>A	noncoding	Benign
19	36091276	C	A	C36091276A	WDR62	NM_001083961.2(WDR62):c.2111C>A:p.Ser704Ter	coding	Pathogenic
19	36092620	G	A	G36092620A	WDR62	NM_001083961.2(WDR62):c.2211-69G>A	noncoding	Benign
19	36094271	C	T	C36094271T	WDR62	NM_001083961.2(WDR62):c.2467+107C>T	noncoding	Benign
19	36097278	A	G	A36097278G	WDR62	NM_001083961.2(WDR62):c.2520+199A>G	noncoding	Benign
19	36099634	C	A	C36099634A	WDR62	NM_001083961.2(WDR62):c.2739+17C>A	noncoding	Benign/Likely_benign
19	36101101	G	A	G36101101A	WDR62	NM_001083961.2(WDR62):c.2868-113G>A	noncoding	Benign
19	36103075	G	A	G36103075A	WDR62	NM_001083961.2(WDR62):c.3462+1G>A	coding	Pathogenic
19	36103774	C	G	C36103774G	WDR62	NM_001083961.2(WDR62):c.3946C>G:p.Gln1316Glu	coding	Benign/Likely_benign
19	36104018	C	G	C36104018G	WDR62	NM_001083961.2(WDR62):c.4153+37C>G	noncoding	Benign
19	37884650	C	G	C37884650G	WDR87	Single_allele	noncoding	Benign
19	37885098	T	C	T37885098C	WDR87	NM_001291088.2(WDR87):c.8573A>G:p.Gln2858Arg	coding	Benign
19	37885190	G	A	G37885190A	WDR87	NM_001291088.2(WDR87):c.8481C>T:p.Tyr2827=	coding	Benign
19	37885344	C	T	C37885344T	WDR87	NM_001291088.2(WDR87):c.8327G>A:p.Arg2776Gln	coding	Benign
19	37885345	G	A	G37885345A	WDR87	NM_001291088.2(WDR87):c.8326C>T:p.Arg2776Trp	coding	Benign
19	37885672	T	C	T37885672C	WDR87	NM_001291088.2(WDR87):c.7999A>G:p.Thr2667Ala	coding	Benign
19	37885828	G	A	G37885828A	WDR87	NM_001291088.2(WDR87):c.7843C>T:p.Arg2615Cys	coding	Benign/Likely_benign
19	37885954	G	A	G37885954A	WDR87	NM_001291088.2(WDR87):c.7717C>T:p.Arg2573Ter	coding	Benign
19	37886164	T	C	T37886164C	WDR87	NM_001291088.2(WDR87):c.7507A>G:p.Thr2503Ala	coding	Benign
19	37886208	T	C	T37886208C	WDR87	NM_001291088.2(WDR87):c.7463A>G:p.His2488Arg	coding	Benign
19	37886769	T	A	T37886769A	WDR87	NM_001291088.2(WDR87):c.6902A>T:p.Glu2301Val	coding	Benign
19	37886770	C	T	C37886770T	WDR87	NM_001291088.2(WDR87):c.6901G>A:p.Glu2301Lys	coding	Benign/Likely_benign
19	37887074	C	A	C37887074A	WDR87	NM_001291088.2(WDR87):c.6597G>T:p.Met2199Ile	coding	Benign
19	37887228	C	T	C37887228T	WDR87	NM_001291088.2(WDR87):c.6443G>A:p.Arg2148His	coding	Benign
19	37887908	T	C	T37887908C	WDR87	NM_001291088.2(WDR87):c.5763A>G:p.Gly1921=	coding	Benign/Likely_benign
19	37888029	T	C	T37888029C	WDR87	NM_001291088.2(WDR87):c.5642A>G:p.Glu1881Gly	coding	Benign
19	37888389	T	A	T37888389A	WDR87	NM_001291088.2(WDR87):c.5282A>T:p.Glu1761Val	coding	Benign
19	37888589	C	T	C37888589T	WDR87	NM_001291088.2(WDR87):c.5082G>A:p.Ala1694=	coding	Benign
19	37888994	C	T	C37888994T	WDR87	NM_001291088.2(WDR87):c.4677G>A:p.Glu1559=	coding	Benign
19	37889059	C	A	C37889059A	WDR87	NM_001291088.2(WDR87):c.4612G>T:p.Ala1538Ser	coding	Benign
19	37889180	C	T	C37889180T	WDR87	NM_001291088.2(WDR87):c.4491G>A:p.Gln1497=	coding	Benign
19	37889608	G	A	G37889608A	WDR87	NM_001291088.2(WDR87):c.4063C>T:p.Pro1355Ser	coding	Benign
19	37889962	C	T	C37889962T	WDR87	NM_001291088.2(WDR87):c.3709G>A:p.Glu1237Lys	coding	Benign
19	37890072	G	A	G37890072A	WDR87	NM_001291088.2(WDR87):c.3599C>T:p.Ser1200Leu	coding	Benign
19	37890138	T	C	T37890138C	WDR87	NM_001291088.2(WDR87):c.3533A>G:p.Gln1178Arg	coding	Benign
19	37890168	A	G	A37890168G	WDR87	NM_001291088.2(WDR87):c.3503T>C:p.Ile1168Thr	coding	Benign/Likely_benign
19	37890251	C	T	C37890251T	WDR87	NM_001291088.2(WDR87):c.3420G>A:p.Lys1140=	coding	Benign
19	37890269	T	A	T37890269A	WDR87	NM_001291088.2(WDR87):c.3402A>T:p.Lys1134Asn	coding	Benign
19	37890369	A	T	A37890369T	WDR87	NM_001291088.2(WDR87):c.3395-93T>A	noncoding	Benign
19	37891703	A	G	A37891703G	WDR87	NM_001291088.2(WDR87):c.3243T>C:p.His1081=	coding	Benign
19	37891837	A	G	A37891837G	WDR87	NM_001291088.2(WDR87):c.3126-17T>C	noncoding	Benign/Likely_benign
19	37893127	T	G	T37893127G	WDR87	NM_001291088.2(WDR87):c.2576A>C:p.Gln859Pro	coding	Benign/Likely_benign
19	37893759	G	A	G37893759A	WDR87	NM_001291088.2(WDR87):c.1944C>T:p.His648=	coding	Benign/Likely_benign
19	37893996	A	T	A37893996T	WDR87	NM_001291088.2(WDR87):c.1707T>A:p.Ser569=	coding	Benign
19	37894049	C	T	C37894049T	WDR87	NM_001291088.2(WDR87):c.1654G>A:p.Ala552Thr	coding	Benign
19	37894100	G	A	G37894100A	WDR87	NM_001291088.2(WDR87):c.1603C>T:p.His535Tyr	coding	Benign
19	37894812	G	A	G37894812A	WDR87	NM_001291088.2(WDR87):c.891C>T:p.Thr297=	coding	Benign
19	37894835	G	A	G37894835A	WDR87	NM_001291088.2(WDR87):c.868C>T:p.Arg290Cys	coding	Benign
19	37895055	C	T	C37895055T	WDR87	NM_001291088.2(WDR87):c.648G>A:p.Thr216=	coding	Benign
19	37895067	G	A	G37895067A	WDR87	NM_001291088.2(WDR87):c.636C>T:p.Ala212=	coding	Benign
19	37895799	C	G	C37895799G	WDR87	NM_001291088.2(WDR87):c.246+339G>C	noncoding	Benign
19	37896321	G	A	G37896321A	WDR87	NM_001291088.2(WDR87):c.76-13C>T	noncoding	Benign/Likely_benign
19	38081088	A	G	A38081088G	SIPA1L3	NM_015073.3(SIPA1L3):c.-310-168A>G	noncoding	Benign
19	38082254	C	T	C38082254T	SIPA1L3	NM_015073.3(SIPA1L3):c.689C>T:p.Pro230Leu	coding	Benign
19	38082428	C	T	C38082428T	SIPA1L3	NM_015073.3(SIPA1L3):c.863C>T:p.Ala288Val	coding	Benign/Likely_benign
19	38082707	T	C	T38082707C	SIPA1L3	NM_015073.3(SIPA1L3):c.1142T>C:p.Met381Thr	coding	Benign
19	38083162	T	C	T38083162C	SIPA1L3	NM_015073.3(SIPA1L3):c.1534+63T>C	noncoding	Benign
19	38088645	T	C	T38088645C	SIPA1L3	NM_015073.3(SIPA1L3):c.1535-76T>C	noncoding	Benign
19	38088870	G	A	G38088870A	SIPA1L3	NM_015073.3(SIPA1L3):c.1665+19G>A	noncoding	Benign
19	38089011	A	G	A38089011G	SIPA1L3	NM_015073.3(SIPA1L3):c.1665+160A>G	noncoding	Benign
19	38100060	T	C	T38100060C	SIPA1L3	NM_015073.3(SIPA1L3):c.1764T>C:p.Tyr588=	coding	Benign
19	38100405	A	G	A38100405G	SIPA1L3	NM_015073.3(SIPA1L3):c.1854+255A>G	noncoding	Benign
19	38100867	G	T	G38100867T	SIPA1L3	NM_015073.3(SIPA1L3):c.1855-185G>T	noncoding	Benign
19	38101177	G	A	G38101177A	SIPA1L3	NM_015073.3(SIPA1L3):c.1980G>A:p.Lys660=	coding	Benign
19	38106372	G	T	G38106372T	SIPA1L3	NM_015073.3(SIPA1L3):c.2030-165G>T	noncoding	Benign
19	38106686	C	T	C38106686T	SIPA1L3	NM_015073.3(SIPA1L3):c.2133+46C>T	noncoding	Benign
19	38110402	G	A	G38110402A	SIPA1L3	NM_015073.3(SIPA1L3):c.2291+18G>A	noncoding	Benign
19	38119447	C	T	C38119447T	SIPA1L3	NM_015073.3(SIPA1L3):c.2433C>T:p.Asp811=	coding	Benign/Likely_benign
19	38119844	T	C	T38119844C	SIPA1L3	NM_015073.3(SIPA1L3):c.2830T>C:p.Ser944Pro	coding	Benign
19	38119902	G	A	G38119902A	SIPA1L3	NM_015073.3(SIPA1L3):c.2868+20G>A	noncoding	Benign
19	38120030	T	C	T38120030C	SIPA1L3	NM_015073.3(SIPA1L3):c.2868+148T>C	noncoding	Benign
19	38120081	G	A	G38120081A	SIPA1L3	NM_015073.3(SIPA1L3):c.2868+199G>A	noncoding	Benign
19	38120117	A	T	A38120117T	SIPA1L3	NM_015073.3(SIPA1L3):c.2868+235A>T	noncoding	Benign
19	38130833	G	A	G38130833A	SIPA1L3	NM_015073.3(SIPA1L3):c.3143+61G>A	noncoding	Benign
19	38142519	C	T	C38142519T	SIPA1L3	NM_015073.3(SIPA1L3):c.3396-54C>T	noncoding	Benign
19	38153230	A	T	A38153230T	SIPA1L3	NM_015073.3(SIPA1L3):c.3661+263A>T	noncoding	Benign
19	38162322	C	T	C38162322T	SIPA1L3	NM_015073.3(SIPA1L3):c.3731C>T:p.Pro1244Leu	coding	Benign/Likely_benign
19	38162457	A	C	A38162457C	SIPA1L3	NM_015073.3(SIPA1L3):c.3780+86A>C	noncoding	Benign
19	38164776	C	T	C38164776T	SIPA1L3	NM_015073.3(SIPA1L3):c.4078C>T:p.Arg1360Trp	coding	Benign
19	38182354	C	T	C38182354T	SIPA1L3	NM_015073.3(SIPA1L3):c.4209-165C>T	noncoding	Benign
19	38182713	G	A	G38182713A	SIPA1L3	NM_015073.3(SIPA1L3):c.4403G>A:p.Arg1468Gln	coding	Benign
19	38191832	C	T	C38191832T	SIPA1L3	NM_015073.3(SIPA1L3):c.4431-313C>T	noncoding	Benign
19	38191913	G	A	G38191913A	SIPA1L3	NM_015073.3(SIPA1L3):c.4431-232G>A	noncoding	Benign
19	38193737	C	T	C38193737T	SIPA1L3	NM_015073.3(SIPA1L3):c.4797C>T:p.Pro1599=	coding	Benign
19	38193752	C	T	C38193752T	SIPA1L3	NM_015073.3(SIPA1L3):c.4812C>T:p.Ala1604=	coding	Benign/Likely_benign
19	38194066	G	A	G38194066A	SIPA1L3	NM_015073.3(SIPA1L3):c.4840+286G>A	noncoding	Benign
19	38198337	G	C	G38198337C	SIPA1L3	NM_015073.3(SIPA1L3):c.4841-52G>C	noncoding	Benign
19	38198548	C	G	C38198548G	SIPA1L3	NM_015073.3(SIPA1L3):c.4984+16C>G	noncoding	Benign
19	38206068	G	A	G38206068A	SIPA1L3	NM_015073.3(SIPA1L3):c.5203-29G>A	noncoding	Benign
19	38206074	T	C	T38206074C	SIPA1L3	NM_015073.3(SIPA1L3):c.5203-23T>C	noncoding	Benign
19	38206414	G	A	G38206414A	SIPA1L3	NM_015073.3(SIPA1L3):c.*174G>A	noncoding	Benign
19	38264308	G	A	G38264308A	SPINT2	Single_allele	noncoding	Benign
19	38264348	G	A	G38264348A	SPINT2	Single_allele	noncoding	Benign
19	38264452	C	G	C38264452G	SPINT2	Single_allele	noncoding	Benign
19	38264766	C	G	C38264766G	SPINT2	NM_021102.4(SPINT2):c.-127C>G	noncoding	Benign
19	38264895	G	A	G38264895A	SPINT2	NM_021102.4(SPINT2):c.3G>A:p.Met1Ile	coding	Pathogenic
19	38264938	C	T	C38264938T	SPINT2	NM_021102.4(SPINT2):c.46C>T:p.Leu16=	coding	Benign
19	38265105	C	T	C38265105T	SPINT2	NM_021102.4(SPINT2):c.106+107C>T	noncoding	Benign
19	38265224	C	T	C38265224T	SPINT2	NM_021102.4(SPINT2):c.106+226C>T	noncoding	Benign
19	38283326	A	G	A38283326G	SPINT2	NM_021102.4(SPINT2):c.107-301A>G	noncoding	Benign
19	38287977	A	G	A38287977G	SPINT2	NM_021102.4(SPINT2):c.337+42A>G	noncoding	Benign
19	38291845	G	C	G38291845C	SPINT2	NM_021102.4(SPINT2):c.598G>C:p.Val200Leu	coding	Benign
19	38291853	G	A	G38291853A	SPINT2	NM_021102.4(SPINT2):c.606G>A:p.Ala202=	coding	Benign
19	38291886	G	C	G38291886C	SPINT2	NM_021102.4(SPINT2):c.639G>C:p.Leu213=	coding	Benign
19	38291936	G	A	G38291936A	SPINT2	NM_021102.4(SPINT2):c.689G>A:p.Arg230His	coding	Benign
19	38291969	A	G	A38291969G	SPINT2	NM_021102.4(SPINT2):c.722A>G:p.Asp241Gly	coding	Benign
19	38307523	T	G	T38307523G	YIF1B	NM_001039672.3(YIF1B):c.696-2A>C	noncoding	Pathogenic
19	38307694	C	A	C38307694A	YIF1B	NM_001039672.3(YIF1B):c.598G>T:p.Glu200Ter	coding	Pathogenic
19	38308791	C	T	C38308791T	YIF1B	NM_001039672.3(YIF1B):c.539+1G>A	noncoding	Pathogenic
19	38309259	T	G	T38309259G	YIF1B	NM_001039672.3(YIF1B):c.367A>C:p.Lys123Gln	coding	Pathogenic
19	38433995	A	G	A38433995G	RYR1	NM_000540.3(RYR1):c.45+121A>G	noncoding	Benign
19	38440821	T	C	T38440821C	RYR1	NM_000540.3(RYR1):c.122T>C:p.Phe41Ser	coding	Pathogenic/Likely_pathogenic
19	38441033	G	A	G38441033A	RYR1	NM_000540.3(RYR1):c.165+169G>A	noncoding	Benign
19	38442186	G	C	G38442186C	RYR1	NM_000540.3(RYR1):c.166-163G>C	noncoding	Benign
19	38443647	G	A	G38443647A	RYR1	NM_000540.3(RYR1):c.345+15G>A	noncoding	Benign/Likely_benign
19	38444130	A	G	A38444130G	RYR1	NM_000540.3(RYR1):c.425-19A>G	noncoding	Benign/Likely_benign
19	38448421	C	A	C38448421A	RYR1	NM_000540.3(RYR1):c.867C>A:p.Tyr289Ter	coding	Pathogenic
19	38448712	G	A	G38448712A	RYR1	NM_000540.3(RYR1):c.1021G>A:p.Gly341Arg	coding	Pathogenic
19	38448712	G	C	G38448712C	RYR1	NM_000540.3(RYR1):c.1021G>C:p.Gly341Arg	coding	Pathogenic
19	38451842	C	T	C38451842T	RYR1	NM_000540.3(RYR1):c.1201C>T:p.Arg401Cys	coding	Pathogenic
19	38452601	C	T	C38452601T	RYR1	NM_000540.3(RYR1):c.1245-218C>T	noncoding	Benign
19	38452824	T	C	T38452824C	RYR1	NM_000540.3(RYR1):c.1250T>C:p.Leu417Pro	coding	Pathogenic/Likely_pathogenic
19	38452916	A	T	A38452916T	RYR1	NM_000540.3(RYR1):c.1342A>T:p.Ile448Phe	coding	Pathogenic
19	38452955	G	T	G38452955T	RYR1	NM_000540.3(RYR1):c.1381G>T:p.Glu461Ter	coding	Pathogenic
19	38453310	G	A	G38453310A	RYR1	NM_000540.3(RYR1):c.1440+296G>A	noncoding	Benign
19	38455544	C	T	C38455544T	RYR1	NM_000540.3(RYR1):c.1670C>T:p.Ser557Phe	coding	Pathogenic
19	38457280	G	C	G38457280C	RYR1	NM_000540.3(RYR1):c.1792-217G>C	noncoding	Benign
19	38457394	C	T	C38457394T	RYR1	NM_000540.3(RYR1):c.1792-103C>T	noncoding	Benign
19	38457877	C	G	C38457877G	RYR1	NM_000540.3(RYR1):c.1926-174C>G	noncoding	Benign
19	38458076	C	T	C38458076T	RYR1	NM_000540.3(RYR1):c.1951C>T:p.Arg651Ter	coding	Pathogenic/Likely_pathogenic
19	38458130	G	T	G38458130T	RYR1	NM_000540.3(RYR1):c.2005G>T:p.Glu669Ter	coding	Pathogenic
19	38458613	T	A	T38458613A	RYR1	NM_000540.3(RYR1):c.2167+321T>A	noncoding	Benign
19	38458614	G	T	G38458614T	RYR1	NM_000540.3(RYR1):c.2167+322G>T	noncoding	Benign
19	38458617	T	A	T38458617A	RYR1	NM_000540.3(RYR1):c.2167+325T>A	noncoding	Benign
19	38458618	G	T	G38458618T	RYR1	NM_000540.3(RYR1):c.2167+326G>T	noncoding	Benign
19	38458951	C	T	C38458951T	RYR1	NM_000540.3(RYR1):c.2168-195C>T	noncoding	Benign
19	38459268	C	T	C38459268T	RYR1	NM_000540.3(RYR1):c.2290C>T:p.Gln764Ter	coding	Pathogenic/Likely_pathogenic
19	38460592	G	A	G38460592A	RYR1	NM_000540.3(RYR1):c.2577+1G>A	coding	Pathogenic
19	38463746	G	A	G38463746A	RYR1	NM_000540.3(RYR1):c.2683-1G>A	noncoding	Pathogenic
19	38463870	G	A	G38463870A	RYR1	NM_000540.3(RYR1):c.2786+20G>A	noncoding	Benign
19	38464374	A	G	A38464374G	RYR1	NM_000540.3(RYR1):c.2787-265A>G	noncoding	Benign
19	38464649	G	A	G38464649A	RYR1	NM_000540.3(RYR1):c.2797G>A:p.Ala933Thr	coding	Benign
19	38464688	G	T	G38464688T	RYR1	NM_000540.3(RYR1):c.2836G>T:p.Glu946Ter	coding	Pathogenic/Likely_pathogenic
19	38466086	C	T	C38466086T	RYR1	NM_000540.3(RYR1):c.2871-5C>T	noncoding	Benign
19	38466209	C	T	C38466209T	RYR1	NM_000540.3(RYR1):c.2989C>T:p.Arg997Ter	coding	Pathogenic
19	38467457	C	T	C38467457T	RYR1	NM_000540.3(RYR1):c.3179-153C>T	noncoding	Benign
19	38467488	C	T	C38467488T	RYR1	NM_000540.3(RYR1):c.3179-122C>T	noncoding	Benign
19	38467654	C	T	C38467654T	RYR1	NM_000540.3(RYR1):c.3223C>T:p.Arg1075Trp	coding	Pathogenic
19	38469069	C	T	C38469069T	RYR1	NM_000540.3(RYR1):c.3485C>T:p.Thr1162Ile	coding	Pathogenic
19	38473439	G	A	G38473439A	RYR1	NM_000540.3(RYR1):c.3828G>A:p.Trp1276Ter	coding	Pathogenic
19	38473850	A	C	A38473850C	RYR1	NM_000540.3(RYR1):c.4160+79A>C	noncoding	Benign
19	38473901	A	G	A38473901G	RYR1	NM_000540.3(RYR1):c.4160+130A>G	noncoding	Benign
19	38475072	A	C	A38475072C	RYR1	NM_000540.3(RYR1):c.4161-246A>C	noncoding	Benign
19	38475094	C	T	C38475094T	RYR1	NM_000540.3(RYR1):c.4161-224C>T	noncoding	Benign
19	38475335	A	G	A38475335G	RYR1	NM_000540.3(RYR1):c.4178A>G:p.Lys1393Arg	coding	Benign
19	38475690	A	G	A38475690G	RYR1	NM_000540.3(RYR1):c.4293+240A>G	noncoding	Benign
19	38477464	C	A	C38477464A	RYR1	NM_000540.3(RYR1):c.4294-246C>A	noncoding	Benign
19	38477585	G	T	G38477585T	RYR1	NM_000540.3(RYR1):c.4294-125G>T	noncoding	Benign
19	38477715	T	G	T38477715G	RYR1	NM_000540.3(RYR1):c.4299T>G:p.Tyr1433Ter	coding	Pathogenic
19	38478135	T	C	T38478135C	RYR1	NM_000540.3(RYR1):c.4454+265T>C	noncoding	Benign
19	38482739	C	T	C38482739T	RYR1	NM_000540.3(RYR1):c.4621-288C>T	noncoding	Benign
19	38483346	G	A	G38483346A	RYR1	NM_000540.3(RYR1):c.4764G>A:p.Pro1588=	coding	Benign/Likely_benign
19	38485654	C	T	C38485654T	RYR1	NM_000540.3(RYR1):c.4999C>T:p.Arg1667Cys	coding	Benign
19	38485972	C	T	C38485972T	RYR1	NM_000540.3(RYR1):c.5317C>T:p.Pro1773Ser	coding	Benign
19	38489101	G	A	G38489101A	RYR1	NM_000540.3(RYR1):c.5548-76G>A	noncoding	Benign
19	38490026	C	T	C38490026T	RYR1	NM_000540.3(RYR1):c.5815-50C>T	noncoding	Benign
19	38490178	C	T	C38490178T	RYR1	NM_000540.3(RYR1):c.5917C>T:p.Gln1973Ter	coding	Pathogenic
19	38490363	C	T	C38490363T	RYR1	NM_000540.3(RYR1):c.6015+87C>T	noncoding	Benign
19	38490636	C	T	C38490636T	RYR1	NM_000540.3(RYR1):c.6031C>T:p.Gln2011Ter	coding	Pathogenic
19	38490687	C	T	C38490687T	RYR1	NM_000540.3(RYR1):c.6082C>T:p.Arg2028Ter	coding	Pathogenic
19	38492209	T	C	T38492209C	RYR1	NM_000540.3(RYR1):c.6128-281T>C	noncoding	Benign
19	38492306	A	T	A38492306T	RYR1	NM_000540.3(RYR1):c.6128-184A>T	noncoding	Benign
19	38492894	C	A	C38492894A	RYR1	NM_000540.3(RYR1):c.6274+258C>A	noncoding	Benign
19	38496058	C	T	C38496058T	RYR1	NM_000540.3(RYR1):c.6549-157C>T	noncoding	Benign
19	38499177	A	G	A38499177G	RYR1	NM_000540.3(RYR1):c.6961A>G:p.Ile2321Val	coding	Benign
19	38499236	C	T	C38499236T	RYR1	NM_000540.3(RYR1):c.7020C>T:p.Phe2340=	coding	Benign/Likely_benign
19	38499506	C	T	C38499506T	RYR1	NM_000540.3(RYR1):c.7028-129C>T	noncoding	Benign
19	38500605	G	A	G38500605A	RYR1	NM_000540.3(RYR1):c.7324-1G>A	noncoding	Pathogenic
19	38500625	G	A	G38500625A	RYR1	NM_000540.3(RYR1):c.7343G>A:p.Gly2448Asp	coding	Pathogenic
19	38500991	G	A	G38500991A	RYR1	NM_000540.3(RYR1):c.7614+1G>A	coding	Pathogenic
19	38502212	C	T	C38502212T	RYR1	NM_000540.3(RYR1):c.7615-295C>T	noncoding	Benign
19	38502439	C	T	C38502439T	RYR1	NM_000540.3(RYR1):c.7615-68C>T	noncoding	Benign
19	38502743	C	T	C38502743T	RYR1	NM_000540.3(RYR1):c.7835+16C>T	noncoding	Benign/Likely_benign
19	38502814	A	G	A38502814G	RYR1	NM_000540.3(RYR1):c.7836-66A>G	noncoding	Benign
19	38502894	C	A	C38502894A	RYR1	NM_000540.3(RYR1):c.7850C>A:p.Ser2617Ter	coding	Pathogenic
19	38504859	G	A	G38504859A	RYR1	NM_000540.3(RYR1):c.8179G>A:p.Ala2727Thr	coding	Benign
19	38505082	G	T	G38505082T	RYR1	NM_000540.3(RYR1):c.8310+1G>T	coding	Pathogenic
19	38505293	T	C	T38505293C	RYR1	NM_000540.3(RYR1):c.8311-16T>C	noncoding	Benign/Likely_benign
19	38505868	G	A	G38505868A	RYR1	NM_000540.3(RYR1):c.8463G>A:p.Trp2821Ter	coding	Pathogenic
19	38505935	C	T	C38505935T	RYR1	NM_000540.3(RYR1):c.8530C>T:p.Gln2844Ter	coding	Pathogenic
19	38506375	C	T	C38506375T	RYR1	NM_000540.3(RYR1):c.8614C>T:p.Gln2872Ter	coding	Pathogenic
19	38506909	G	T	G38506909T	RYR1	NM_000540.3(RYR1):c.8773G>T:p.Glu2925Ter	coding	Pathogenic
19	38506968	C	T	C38506968T	RYR1	NM_000540.3(RYR1):c.8816+16C>T	noncoding	Benign/Likely_benign
19	38507228	A	G	A38507228G	RYR1	NM_000540.3(RYR1):c.8816+276A>G	noncoding	Benign
19	38508131	A	G	A38508131G	RYR1	NM_000540.3(RYR1):c.8932+304A>G	noncoding	Benign
19	38510658	A	G	A38510658G	RYR1	NM_000540.3(RYR1):c.9001-2A>G	noncoding	Pathogenic/Likely_pathogenic
19	38510706	A	G	A38510706G	RYR1	NM_000540.3(RYR1):c.9047A>G:p.Tyr3016Cys	coding	Pathogenic
19	38511259	G	C	G38511259C	RYR1	NM_000540.3(RYR1):c.9123-302G>C	noncoding	Benign
19	38512364	C	T	C38512364T	RYR1	NM_000540.3(RYR1):c.9353C>T:p.Ala3118Val	coding	Benign
19	38515208	A	G	A38515208G	RYR1	NM_000540.3(RYR1):c.9554+101A>G	noncoding	Benign
19	38515297	G	T	G38515297T	RYR1	NM_000540.3(RYR1):c.9554+190G>T	noncoding	Benign
19	38516450	T	C	T38516450C	RYR1	NM_000540.3(RYR1):c.9685+233T>C	noncoding	Benign
19	38517213	G	A	G38517213A	RYR1	NM_000540.3(RYR1):c.9686-146G>A	noncoding	Benign
19	38517524	G	A	G38517524A	RYR1	NM_000540.3(RYR1):c.9851G>A:p.Trp3284Ter	coding	Pathogenic
19	38517858	G	A	G38517858A	RYR1	NM_000540.3(RYR1):c.10018+167G>A	noncoding	Benign
19	38519011	C	T	C38519011T	RYR1	NM_000540.3(RYR1):c.10019-203C>T	noncoding	Benign
19	38519258	C	T	C38519258T	RYR1	NM_000540.3(RYR1):c.10063C>T:p.Gln3355Ter	coding	Pathogenic
19	38523544	T	C	T38523544C	RYR1	NM_000540.3(RYR1):c.10440+235T>C	noncoding	Benign
19	38524002	C	T	C38524002T	RYR1	NM_000540.3(RYR1):c.10455+73C>T	noncoding	Benign
19	38525347	C	T	C38525347T	RYR1	NM_000540.3(RYR1):c.10471C>T:p.Gln3491Ter	coding	Pathogenic
19	38527521	A	G	A38527521G	RYR1	NM_000540.3(RYR1):c.10687-126A>G	noncoding	Benign
19	38528088	C	G	C38528088G	RYR1	NM_000540.3(RYR1):c.10825-218C>G	noncoding	Benign
19	38528419	G	C	G38528419C	RYR1	NM_000540.3(RYR1):c.10937+1G>C	coding	Pathogenic
19	38528513	A	G	A38528513G	RYR1	NM_000540.3(RYR1):c.10938-86A>G	noncoding	Benign
19	38529112	C	T	C38529112T	RYR1	NM_000540.3(RYR1):c.11141+55C>T	noncoding	Benign
19	38529310	G	A	G38529310A	RYR1	NM_000540.3(RYR1):c.11141+253G>A	noncoding	Benign
19	38532543	T	C	T38532543C	RYR1	NM_000540.3(RYR1):c.11193+2T>C	noncoding	Pathogenic
19	38532556	C	T	C38532556T	RYR1	NM_000540.3(RYR1):c.11193+15C>T	noncoding	Benign
19	38535036	C	G	C38535036G	RYR1	NM_000540.3(RYR1):c.11360-105C>G	noncoding	Benign
19	38537747	A	T	A38537747T	RYR1	NM_000540.3(RYR1):c.11609-133A>T	noncoding	Benign
19	38537867	C	T	C38537867T	RYR1	NM_000540.3(RYR1):c.11609-13C>T	noncoding	Benign/Likely_benign
19	38543420	C	A	C38543420A	RYR1	NM_000540.3(RYR1):c.11763C>A:p.Tyr3921Ter	coding	Pathogenic
19	38543972	G	A	G38543972A	RYR1	NM_000540.3(RYR1):c.12012+97G>A	noncoding	Benign
19	38546454	C	T	C38546454T	RYR1	NM_000540.3(RYR1):c.12022C>T:p.Gln4008Ter	coding	Pathogenic
19	38561015	T	C	T38561015C	RYR1	NM_000540.3(RYR1):c.12283-98T>C	noncoding	Benign
19	38561362	G	A	G38561362A	RYR1	NM_000540.3(RYR1):c.12532G>A:p.Gly4178Ser	coding	Pathogenic/Likely_pathogenic
19	38561412	C	G	C38561412G	RYR1	NM_000540.3(RYR1):c.12582C>G:p.Phe4194Leu	coding	Pathogenic
19	38565061	G	A	G38565061A	RYR1	NM_000540.3(RYR1):c.12727G>A:p.Glu4243Lys	coding	Pathogenic/Likely_pathogenic
19	38565100	G	T	G38565100T	RYR1	NM_000540.3(RYR1):c.12766G>T:p.Glu4256Ter	coding	Pathogenic
19	38565163	G	T	G38565163T	RYR1	NM_000540.3(RYR1):c.12829G>T:p.Glu4277Ter	coding	Pathogenic
19	38565215	C	T	C38565215T	RYR1	NM_000540.3(RYR1):c.12881C>T:p.Thr4294Met	coding	Benign
19	38565218	C	T	C38565218T	RYR1	NM_000540.3(RYR1):c.12884C>T:p.Ala4295Val	coding	Benign
19	38565666	C	T	C38565666T	RYR1	NM_000540.3(RYR1):c.13332C>T:p.Gly4444=	coding	Benign/Likely_benign
19	38566986	G	C	G38566986C	RYR1	NM_000540.3(RYR1):c.13513G>C:p.Asp4505His	coding	Benign
19	38567534	C	G	C38567534G	RYR1	NM_000540.3(RYR1):c.13515-239C>G	noncoding	Benign
19	38567831	C	T	C38567831T	RYR1	NM_000540.3(RYR1):c.13573C>T:p.Gln4525Ter	coding	Pathogenic
19	38570529	C	A	C38570529A	RYR1	NM_000540.3(RYR1):c.13660-78C>A	noncoding	Benign
19	38570619	C	G	C38570619G	RYR1	NM_000540.3(RYR1):c.13672C>G:p.Arg4558Gly	coding	Pathogenic
19	38571746	T	A	T38571746A	RYR1	NM_000540.3(RYR1):c.13747-273T>A	noncoding	Benign
19	38572322	T	G	T38572322G	RYR1	NM_000540.3(RYR1):c.13998+52T>G	noncoding	Benign
19	38572979	G	C	G38572979C	RYR1	NM_000540.3(RYR1):c.13999-198G>C	noncoding	Benign
19	38575917	A	G	A38575917G	RYR1	NM_000540.3(RYR1):c.14130-2A>G	noncoding	Pathogenic
19	38577603	C	T	C38577603T	RYR1	NM_000540.3(RYR1):c.14173-315C>T	noncoding	Benign
19	38580427	T	C	T38580427C	RYR1	NM_000540.3(RYR1):c.14569T>C:p.Phe4857Leu	coding	Pathogenic
19	38580503	C	T	C38580503T	RYR1	NM_000540.3(RYR1):c.14645C>T:p.Thr4882Met	coding	Pathogenic/Likely_pathogenic
19	38584752	T	C	T38584752C	RYR1	NM_000540.3(RYR1):c.14647-191T>C	noncoding	Benign
19	38585814	C	T	C38585814T	RYR1	NM_000540.3(RYR1):c.14804-124C>T	noncoding	Benign
19	38585941	T	G	T38585941G	RYR1	NM_000540.3(RYR1):c.14807T>G:p.Leu4936Arg	coding	Pathogenic/Likely_pathogenic
19	38585976	C	A	C38585976A	RYR1	NM_000540.3(RYR1):c.14842C>A:p.Gln4948Lys	coding	Pathogenic
19	38586090	G	T	G38586090T	RYR1	NM_000540.3(RYR1):c.14869-1G>T	noncoding	Pathogenic
19	38647968	T	C	T38647968C	ACTN4	NM_004924.6(ACTN4):c.162+61T>C	noncoding	Benign
19	38700743	G	C	G38700743C	ACTN4	NM_004924.6(ACTN4):c.277+29G>C	noncoding	Benign
19	38700904	G	A	G38700904A	ACTN4	NM_004924.6(ACTN4):c.278-98G>A	noncoding	Benign
19	38700990	T	G	T38700990G	ACTN4	NM_004924.6(ACTN4):c.278-12T>G	noncoding	Benign
19	38701021	G	A	G38701021A	ACTN4	NM_004924.6(ACTN4):c.297G>A:p.Pro99=	coding	Benign
19	38704674	T	G	T38704674G	ACTN4	NM_004924.6(ACTN4):c.398-260T>G	noncoding	Benign
19	38705013	C	T	C38705013T	ACTN4	NM_004924.6(ACTN4):c.477C>T:p.Ser159=	coding	Benign
19	38705095	C	T	C38705095T	ACTN4	NM_004924.6(ACTN4):c.484+75C>T	noncoding	Benign/Likely_benign
19	38705891	C	T	C38705891T	ACTN4	NM_004924.6(ACTN4):c.485-153C>T	noncoding	Benign
19	38709196	G	A	G38709196A	ACTN4	NM_004924.6(ACTN4):c.652-199G>A	noncoding	Benign
19	38709340	G	T	G38709340T	ACTN4	NM_004924.6(ACTN4):c.652-55G>T	noncoding	Benign
19	38709358	G	A	G38709358A	ACTN4	NM_004924.6(ACTN4):c.652-37G>A	noncoding	Benign
19	38709361	G	T	G38709361T	ACTN4	NM_004924.6(ACTN4):c.652-34G>T	noncoding	Benign
19	38710203	C	T	C38710203T	ACTN4	NM_004924.6(ACTN4):c.734-54C>T	noncoding	Benign
19	38710634	C	G	C38710634G	ACTN4	NM_004924.6(ACTN4):c.819+292C>G	noncoding	Benign
19	38714205	C	T	C38714205T	ACTN4	NM_004924.6(ACTN4):c.820-264C>T	noncoding	Benign
19	38714206	G	A	G38714206A	ACTN4	NM_004924.6(ACTN4):c.820-263G>A	noncoding	Benign
19	38714321	G	T	G38714321T	ACTN4	NM_004924.6(ACTN4):c.820-148G>T	noncoding	Benign
19	38714341	T	A	T38714341A	ACTN4	NM_004924.6(ACTN4):c.820-128T>A	noncoding	Benign
19	38714375	C	T	C38714375T	ACTN4	NM_004924.6(ACTN4):c.820-94C>T	noncoding	Benign
19	38717250	G	A	G38717250A	ACTN4	NM_004924.6(ACTN4):c.1077G>A:p.Thr359=	coding	Benign
19	38718073	C	T	C38718073T	ACTN4	NM_004924.6(ACTN4):c.1290C>T:p.Asp430=	coding	Benign
19	38718155	C	T	C38718155T	ACTN4	NM_004924.6(ACTN4):c.1291+81C>T	noncoding	Benign
19	38721412	T	C	T38721412C	ACTN4	NM_004924.6(ACTN4):c.1292-126T>C	noncoding	Benign
19	38721752	C	T	C38721752T	ACTN4	NM_004924.6(ACTN4):c.1442+64C>T	noncoding	Benign
19	38721760	C	T	C38721760T	ACTN4	NM_004924.6(ACTN4):c.1442+72C>T	noncoding	Benign
19	38723771	C	T	C38723771T	ACTN4	NM_004924.6(ACTN4):c.1551+49C>T	noncoding	Benign
19	38724198	G	A	G38724198A	ACTN4	NM_004924.6(ACTN4):c.1734G>A:p.Pro578=	coding	Benign
19	38724574	C	T	C38724574T	ACTN4	NM_004924.6(ACTN4):c.2010+9C>T	noncoding	Benign/Likely_benign
19	38724693	C	T	C38724693T	ACTN4	NM_004924.6(ACTN4):c.2010+128C>T	noncoding	Benign
19	38725551	G	A	G38725551A	ACTN4	NM_004924.6(ACTN4):c.2011-173G>A	noncoding	Benign
19	38725563	T	C	T38725563C	ACTN4	NM_004924.6(ACTN4):c.2011-161T>C	noncoding	Benign
19	38725719	C	T	C38725719T	ACTN4	NM_004924.6(ACTN4):c.2011-5C>T	noncoding	Benign
19	38725720	G	A	G38725720A	ACTN4	NM_004924.6(ACTN4):c.2011-4G>A	noncoding	Benign
19	38726867	G	A	G38726867A	ACTN4	NM_004924.6(ACTN4):c.2191-90G>A	noncoding	Benign
19	38726952	C	T	C38726952T	ACTN4	NM_004924.6(ACTN4):c.2191-5C>T	noncoding	Benign/Likely_benign
19	38727082	G	A	G38727082A	ACTN4	NM_004924.6(ACTN4):c.2316G>A:p.Ala772=	coding	Benign/Likely_benign
19	38727754	A	G	A38727754G	ACTN4	NM_004924.6(ACTN4):c.2338-192A>G	noncoding	Benign
19	38727755	A	C	A38727755C	ACTN4	NM_004924.6(ACTN4):c.2338-191A>C	noncoding	Benign
19	38728037	C	T	C38728037T	ACTN4	NM_004924.6(ACTN4):c.2418+11C>T	noncoding	Benign
19	38728042	C	T	C38728042T	ACTN4	NM_004924.6(ACTN4):c.2418+16C>T	noncoding	Benign
19	38728054	A	G	A38728054G	ACTN4	NM_004924.6(ACTN4):c.2418+28A>G	noncoding	Benign
19	38728920	G	T	G38728920T	ACTN4	NM_004924.6(ACTN4):c.2419-76G>T	noncoding	Benign
19	38730655	A	G	A38730655G	CAPN12	NM_144691.4(CAPN12):c.*197T>C	noncoding	Benign
19	38730884	G	A	G38730884A	CAPN12	NM_144691.4(CAPN12):c.2134-6C>T	noncoding	Benign
19	38731307	A	T	A38731307T	CAPN12	NM_144691.4(CAPN12):c.1958-84T>A	noncoding	Benign
19	38733450	G	C	G38733450C	CAPN12	NM_144691.4(CAPN12):c.1957+253C>G	noncoding	Benign
19	38733773	A	G	A38733773G	CAPN12	NM_144691.4(CAPN12):c.1887T>C:p.Phe629=	coding	Benign
19	38734262	G	A	G38734262A	CAPN12	NM_144691.4(CAPN12):c.1815+57C>T	noncoding	Benign
19	38734294	C	T	C38734294T	CAPN12	NM_144691.4(CAPN12):c.1815+25G>A	noncoding	Benign
19	38734406	G	A	G38734406A	CAPN12	NM_144691.4(CAPN12):c.1745-17C>T	noncoding	Benign
19	38735218	T	C	T38735218C	CAPN12	NM_144691.4(CAPN12):c.1686+152A>G	noncoding	Benign
19	38735583	G	A	G38735583A	CAPN12	NM_144691.4(CAPN12):c.1584-39C>T	noncoding	Benign
19	38736098	C	T	C38736098T	CAPN12	NM_144691.4(CAPN12):c.1583+12G>A	noncoding	Benign
19	38736287	T	C	T38736287C	CAPN12	NM_144691.4(CAPN12):c.1406A>G:p.His469Arg	coding	Benign
19	38736467	T	G	T38736467G	CAPN12	NM_144691.4(CAPN12):c.1374+85A>C	noncoding	Benign
19	38737076	T	C	T38737076C	CAPN12	NM_144691.4(CAPN12):c.1362+80A>G	noncoding	Benign
19	38737255	C	T	C38737255T	CAPN12	NM_144691.4(CAPN12):c.1263G>A:p.Thr421=	coding	Benign
19	38737604	T	C	T38737604C	CAPN12	NM_144691.4(CAPN12):c.1000A>G:p.Thr334Ala	coding	Benign
19	38738449	A	G	A38738449G	CAPN12	NM_144691.4(CAPN12):c.859T>C:p.Cys287Arg	coding	Benign
19	38738676	A	G	A38738676G	CAPN12	NM_144691.4(CAPN12):c.730-28T>C	noncoding	Benign
19	38738926	G	A	G38738926A	CAPN12	NM_144691.4(CAPN12):c.730-278C>T	noncoding	Benign
19	38740108	C	G	C38740108G	CAPN12	NM_144691.4(CAPN12):c.672G>C:p.Leu224=	coding	Benign
19	38740394	G	C	G38740394C	CAPN12	NM_144691.4(CAPN12):c.561-175C>G	noncoding	Benign
19	38742108	G	A	G38742108A	CAPN12	NM_144691.4(CAPN12):c.427-198C>T	noncoding	Benign
19	38743329	T	G	T38743329G	CAPN12	NM_144691.4(CAPN12):c.238-227A>C	noncoding	Benign
19	38743722	A	G	A38743722G	CAPN12	NM_144691.4(CAPN12):c.237+207T>C	noncoding	Benign
19	38743871	C	T	C38743871T	CAPN12	NM_144691.4(CAPN12):c.237+58G>A	noncoding	Benign
19	38744239	T	C	T38744239C	CAPN12	NM_144691.4(CAPN12):c.-74A>G	noncoding	Benign
19	38744463	A	G	A38744463G	CAPN12	NM_144691.4(CAPN12):c.-298T>C	noncoding	Benign
19	38838877	C	T	C38838877T	HNRNPL	NM_001533.3(HNRNPL):c.1355+17G>A	noncoding	Benign
19	38878729	T	G	T38878729G	RINL	NM_012237.4(SIRT2):c.*426A>C	noncoding	Benign
19	38911815	C	G	C38911815G	CCER2	NM_001243212.2(CCER2):c.99G>C:p.Glu33Asp	coding	Benign
19	38915788	C	T	C38915788T	SARS2	NM_017827.4(SARS2):c.1414-39G>A	noncoding	Benign
19	38915802	G	A	G38915802A	SARS2	NM_017827.4(SARS2):c.1413+39C>T	noncoding	Benign
19	38915925	C	T	C38915925T	SARS2	NM_017827.4(SARS2):c.1348-19G>A	noncoding	Benign
19	38916185	T	G	T38916185G	SARS2	NM_017827.4(SARS2):c.1254+36A>C	noncoding	Benign
19	38916374	C	A	C38916374A	SARS2	NM_017827.4(SARS2):c.1161-60G>T	noncoding	Benign
19	38916516	G	A	G38916516A	SARS2	NM_017827.4(SARS2):c.1161-202C>T	noncoding	Benign
19	38917594	C	T	C38917594T	SARS2	NM_017827.4(SARS2):c.1160+130G>A	noncoding	Benign
19	38918048	C	G	C38918048G	SARS2	NM_017827.4(SARS2):c.963-40G>C	noncoding	Benign
19	38918596	C	A	C38918596A	SARS2	NM_017827.4(SARS2):c.808-66G>T	noncoding	Benign
19	38921805	G	A	G38921805A	SARS2	NM_017827.4(SARS2):c.394-138C>T	noncoding	Benign
19	38922498	C	T	C38922498T	SARS2	NM_017827.4(SARS2):c.364-231G>A	noncoding	Benign
19	38926326	G	T	G38926326T	SARS2	NM_017827.4(SARS2):c.268-26C>A	noncoding	Benign
19	38926327	A	T	A38926327T	SARS2	NM_017827.4(SARS2):c.268-27T>A	noncoding	Benign
19	39386965	T	C	T39386965C	PAF1	NM_019088.4(PAF1):c.987-166A>G	noncoding	Benign
19	39387096	T	C	T39387096C	PAF1	NM_019088.4(PAF1):c.987-297A>G	noncoding	Benign
19	39388317	C	G	C39388317G	PAF1	NM_019088.4(PAF1):c.986+22G>C	noncoding	Benign
19	39388504	C	T	C39388504T	PAF1	NM_019088.4(PAF1):c.858-37G>A	noncoding	Benign
19	39389023	A	G	A39389023G	PAF1	NM_019088.4(PAF1):c.568-8T>C	noncoding	Benign
19	39389371	G	A	G39389371A	PAF1	NM_019088.4(PAF1):c.372C>T:p.His124=	coding	Benign
19	39415263	A	G	A39415263G	PLEKHG2	NM_022835.3(PLEKHG2):c.378+3A>G	noncoding	Benign
19	39415277	C	T	C39415277T	PLEKHG2	NM_022835.3(PLEKHG2):c.378+17C>T	noncoding	Benign
19	39415432	T	C	T39415432C	PLEKHG2	NM_022835.3(PLEKHG2):c.472T>C:p.Phe158Leu	coding	Benign
19	39416345	T	C	T39416345C	PLEKHG2	NM_022835.3(PLEKHG2):c.480-3T>C	noncoding	Benign
19	39416396	C	T	C39416396T	PLEKHG2	NM_022835.3(PLEKHG2):c.528C>T:p.Ala176=	coding	Benign
19	39416432	G	A	G39416432A	PLEKHG2	NM_022835.3(PLEKHG2):c.546+18G>A	noncoding	Benign
19	39417574	C	T	C39417574T	PLEKHG2	NM_022835.3(PLEKHG2):c.764C>T:p.Ala255Val	coding	Benign
19	39417934	C	T	C39417934T	PLEKHG2	NM_022835.3(PLEKHG2):c.912C>T:p.Thr304=	coding	Benign
19	39418017	G	T	G39418017T	PLEKHG2	NM_022835.3(PLEKHG2):c.995G>T:p.Gly332Val	coding	Benign
19	39418900	C	T	C39418900T	PLEKHG2	NM_022835.3(PLEKHG2):c.1177-17C>T	noncoding	Benign
19	39420811	C	G	C39420811G	PLEKHG2	NM_022835.3(PLEKHG2):c.1358C>G:p.Pro453Arg	coding	Benign
19	39422918	A	G	A39422918G	PLEKHG2	NM_022835.3(PLEKHG2):c.1864A>G:p.Ile622Val	coding	Benign
19	39422994	G	A	G39422994A	PLEKHG2	NM_022835.3(PLEKHG2):c.1940G>A:p.Arg647His	coding	Benign
19	39423668	C	T	C39423668T	PLEKHG2	NM_022835.3(PLEKHG2):c.2599+15C>T	noncoding	Benign
19	39423669	G	A	G39423669A	PLEKHG2	NM_022835.3(PLEKHG2):c.2599+16G>A	noncoding	Benign
19	39424004	G	A	G39424004A	PLEKHG2	NM_022835.3(PLEKHG2):c.2871G>A:p.Lys957=	coding	Benign
19	39424108	G	A	G39424108A	PLEKHG2	NM_022835.3(PLEKHG2):c.2975G>A:p.Arg992Lys	coding	Benign
19	39424169	G	A	G39424169A	PLEKHG2	NM_022835.3(PLEKHG2):c.3036G>A:p.Ala1012=	coding	Benign
19	39424997	G	A	G39424997A	PLEKHG2	NM_022835.3(PLEKHG2):c.3864G>A:p.Gln1288=	coding	Benign
19	39425046	C	A	C39425046A	PLEKHG2	NM_022835.3(PLEKHG2):c.3913C>A:p.Arg1305=	coding	Benign
19	39425093	C	T	C39425093T	PLEKHG2	NM_022835.3(PLEKHG2):c.3960C>T:p.Pro1320=	coding	Benign
19	39425118	C	G	C39425118G	PLEKHG2	NM_022835.3(PLEKHG2):c.3985C>G:p.Pro1329Ala	coding	Benign
19	39464893	G	A	G39464893A	SUPT5H	NM_001111020.3(SUPT5H):c.720G>A:p.Glu240=	coding	Benign
19	39473188	T	A	T39473188A	SUPT5H	NM_001111020.3(SUPT5H):c.2259-15T>A	noncoding	Benign
19	39480761	C	T	C39480761T	TIMM50	NM_001001563.3(TIMM50):c.217C>T:p.Pro73Ser	coding	Benign
19	39480792	G	C	G39480792C	TIMM50	NM_001001563.3(TIMM50):c.248G>C:p.Ser83Thr	coding	Benign
19	39480826	G	A	G39480826A	TIMM50	NC_000019.9:g.39971466G>A	coding	Benign
19	39480982	C	G	C39480982G	TIMM50	NM_001001563.5(TIMM50):c.108+21C>G	noncoding	Benign
19	39481939	G	A	G39481939A	TIMM50	NM_001001563.5(TIMM50):c.165G>A:p.Pro55=	coding	Benign
19	39482044	T	C	T39482044C	TIMM50	NM_001001563.5(TIMM50):c.259+11T>C	noncoding	Benign
19	39482126	G	A	G39482126A	TIMM50	NM_001001563.5(TIMM50):c.259+93G>A	noncoding	Benign
19	39485403	C	G	C39485403G	TIMM50	NM_001001563.5(TIMM50):c.314-141C>G	noncoding	Benign
19	39485571	G	A	G39485571A	TIMM50	NM_001001563.5(TIMM50):c.341G>A:p.Arg114Gln	coding	Pathogenic
19	39485780	C	T	C39485780T	TIMM50	NM_001001563.5(TIMM50):c.465C>T:p.Thr155=	coding	Benign
19	39485783	C	T	C39485783T	TIMM50	NM_001001563.5(TIMM50):c.468C>T:p.Gly156=	coding	Benign
19	39485824	C	G	C39485824G	TIMM50	NM_001001563.5(TIMM50):c.492+17C>G	noncoding	Benign
19	39486044	T	C	T39486044C	TIMM50	NM_001001563.5(TIMM50):c.493-143T>C	noncoding	Benign
19	39486094	G	A	G39486094A	TIMM50	NM_001001563.5(TIMM50):c.493-93G>A	noncoding	Benign
19	39486329	T	C	T39486329C	TIMM50	NM_001001563.5(TIMM50):c.597+38T>C	noncoding	Benign
19	39486382	C	T	C39486382T	TIMM50	NM_001001563.5(TIMM50):c.598-15C>T	noncoding	Benign
19	39486533	G	A	G39486533A	TIMM50	NM_001001563.5(TIMM50):c.696+38G>A	noncoding	Benign
19	39486547	C	G	C39486547G	TIMM50	NM_001001563.5(TIMM50):c.696+52C>G	noncoding	Benign
19	39488154	C	T	C39488154T	TIMM50	NM_001001563.5(TIMM50):c.790C>T:p.Leu264=	coding	Benign
19	39488658	A	G	A39488658G	TIMM50	NM_001001563.5(TIMM50):c.960+13A>G	noncoding	Benign
19	39489497	G	A	G39489497A	TIMM50	NM_001001563.5(TIMM50):c.961-222G>A	noncoding	Benign
19	39489772	C	T	C39489772T	TIMM50	NM_001001563.5(TIMM50):c.1014C>T:p.Phe338=	coding	Benign
19	39499037	C	T	C39499037T	DLL3	NM_203486.3(DLL3):c.63C>T:p.Leu21=	coding	Benign/Likely_benign
19	39499490	G	C	G39499490C	DLL3	NM_203486.3(DLL3):c.351+17G>C	noncoding	Benign
19	39499605	G	C	G39499605C	DLL3	NM_203486.3(DLL3):c.351+132G>C	noncoding	Benign
19	39500432	C	A	C39500432A	DLL3	NM_203486.3(DLL3):c.352-183C>A	noncoding	Benign
19	39500691	G	T	G39500691T	DLL3	NM_203486.3(DLL3):c.409+19G>T	noncoding	Benign/Likely_benign
19	39500901	G	C	G39500901C	DLL3	NM_203486.3(DLL3):c.409+229G>C	noncoding	Benign
19	39500974	A	G	A39500974G	DLL3	NM_203486.3(DLL3):c.409+302A>G	noncoding	Benign
19	39502600	C	T	C39502600T	DLL3	NM_203486.3(DLL3):c.410-215C>T	noncoding	Benign
19	39503042	G	T	G39503042T	DLL3	NM_203486.3(DLL3):c.637G>T:p.Glu213Ter	coding	Pathogenic
19	39503383	A	G	A39503383G	DLL3	NM_203486.3(DLL3):c.652+326A>G	noncoding	Benign
19	39503873	G	A	G39503873A	DLL3	NM_203486.3(DLL3):c.653-198G>A	noncoding	Benign
19	39505228	G	A	G39505228A	DLL3	NM_203486.3(DLL3):c.871-1G>A	noncoding	Pathogenic
19	39506832	G	A	G39506832A	DLL3	NM_203486.3(DLL3):c.1094-207G>A	noncoding	Benign
19	39507081	G	A	G39507081A	DLL3	NM_203486.3(DLL3):c.1136G>A:p.Cys379Tyr	coding	Pathogenic
19	39507329	G	A	G39507329A	DLL3	NM_203486.3(DLL3):c.1384G>A:p.Ala462Thr	coding	Benign/Likely_benign
19	39507361	C	A	C39507361A	DLL3	NM_203486.3(DLL3):c.1416C>A:p.Gly472=	coding	Benign
19	39507456	G	A	G39507456A	DLL3	NM_203486.3(DLL3):c.1511G>A:p.Gly504Asp	coding	Pathogenic/Likely_pathogenic
19	39825873	G	A	G39825873A	DYRK1B	NM_004714.3(DYRK1B):c.1732C>T:p.Pro578Ser	coding	Benign/Likely_benign
19	39827492	C	T	C39827492T	DYRK1B	NM_004714.3(DYRK1B):c.954+18G>A	noncoding	Benign
19	39828587	C	T	C39828587T	DYRK1B	NM_004714.3(DYRK1B):c.521-4G>A	noncoding	Benign
19	40233606	A	G	A40233606G	AKT2	NM_001626.6(AKT2):c.*266T>C	noncoding	Benign
19	40233814	G	T	G40233814T	AKT2	NM_001626.6(AKT2):c.*58C>A	noncoding	Benign
19	40233863	G	A	G40233863A	AKT2	NM_001626.6(AKT2):c.*9C>T	noncoding	Benign
19	40235025	C	T	C40235025T	AKT2	NM_001626.6(AKT2):c.1366+20G>A	noncoding	Benign
19	40235115	G	A	G40235115A	AKT2	NM_001626.6(AKT2):c.1296C>T:p.Ser432=	coding	Benign
19	40235367	G	A	G40235367A	AKT2	NM_001626.6(AKT2):c.1176-17C>T	noncoding	Benign
19	40235787	C	T	C40235787T	AKT2	NM_001626.6(AKT2):c.1175+103G>A	noncoding	Benign
19	40236198	T	C	T40236198C	AKT2	NM_001626.6(AKT2):c.960+59A>G	noncoding	Benign
19	40236413	T	C	T40236413C	AKT2	NM_001626.6(AKT2):c.832-28A>G	noncoding	Benign
19	40237787	T	C	T40237787C	AKT2	NM_001626.6(AKT2):c.831+182A>G	noncoding	Benign
19	40237951	G	A	G40237951A	AKT2	NM_001626.6(AKT2):c.831+18C>T	noncoding	Benign
19	40238641	C	T	C40238641T	AKT2	NM_001626.6(AKT2):c.708+264G>A	noncoding	Benign
19	40238790	T	C	T40238790C	AKT2	NM_001626.6(AKT2):c.708+115A>G	noncoding	Benign
19	40241626	G	A	G40241626A	AKT2	NM_001626.6(AKT2):c.573+312C>T	noncoding	Benign
19	40241810	T	G	T40241810G	AKT2	NM_001626.6(AKT2):c.573+128A>C	noncoding	Benign
19	40241913	C	G	C40241913G	AKT2	NM_001626.6(AKT2):c.573+25G>C	noncoding	Benign
19	40242089	T	C	T40242089C	AKT2	NM_001626.6(AKT2):c.442-20A>G	noncoding	Benign
19	40242732	C	T	C40242732T	AKT2	NM_001626.6(AKT2):c.288-45G>A	noncoding	Benign
19	40242836	A	G	A40242836G	AKT2	NM_001626.6(AKT2):c.288-149T>C	noncoding	Benign
19	40255305	G	A	G40255305A	AKT2	NM_001626.6(AKT2):c.176-36C>T	noncoding	Benign
19	40264953	G	A	G40264953A	AKT2	NM_001626.6(AKT2):c.46+269C>T	noncoding	Benign
19	40265075	T	C	T40265075C	AKT2	NM_001626.6(AKT2):c.46+147A>G	noncoding	Benign
19	40371845	A	G	A40371845G	PLD3	NM_012268.4(PLD3):c.851A>G:p.Asn284Ser	coding	Benign
19	40393737	C	T	C40393737T	PRX	Single_allele	noncoding	Benign
19	40394496	C	T	C40394496T	PRX	NM_181882.3(PRX):c.3856G>A:p.Gly1286Ser	coding	Benign/Likely_benign
19	40396302	G	A	G40396302A	PRX	NM_181882.3(PRX):c.2050C>T:p.Gln684Ter	coding	Pathogenic
19	40396705	C	G	C40396705G	PRX	NM_181882.3(PRX):c.1647G>C:p.Pro549=	coding	Benign/Likely_benign
19	40396858	T	C	T40396858C	PRX	NM_181882.3(PRX):c.1494A>G:p.Lys498=	coding	Benign
19	40398157	A	G	A40398157G	PRX	NM_181882.3(PRX):c.382-187T>C	coding	Benign
19	40398602	C	T	C40398602T	PRX	NM_181882.3(PRX):c.381+18G>A	coding	Benign/Likely_benign
19	40398716	G	A	G40398716A	PRX	NM_181882.3(PRX):c.285C>T:p.Cys95=	coding	Benign/Likely_benign
19	40398796	G	A	G40398796A	PRX	NM_181882.3(PRX):c.205C>T:p.Arg69Ter	coding	Pathogenic
19	40398967	C	G	C40398967G	PRX	NM_181882.3(PRX):c.185-151G>C	noncoding	Benign
19	40407595	C	T	C40407595T	PRX	NM_181882.3(PRX):c.27+311G>A	noncoding	Benign
19	40408073	C	T	C40408073T	PRX	NM_181882.3(PRX):c.-99-42G>A	noncoding	Benign
19	40408120	G	T	G40408120T	PRX	NM_181882.3(PRX):c.-100+38C>A	noncoding	Benign
19	40408133	G	A	G40408133A	PRX	NM_181882.3(PRX):c.-100+25C>T	noncoding	Benign
19	40472546	G	A	G40472546A	SPTBN4	NM_020971.3(SPTBN4):c.-15-61G>A	noncoding	Benign
19	40472733	G	A	G40472733A	SPTBN4	NM_020971.3(SPTBN4):c.112G>A:p.Ala38Thr	coding	Benign
19	40472853	C	T	C40472853T	SPTBN4	NM_020971.3(SPTBN4):c.169+63C>T	noncoding	Benign
19	40472962	C	A	C40472962A	SPTBN4	NM_020971.3(SPTBN4):c.169+172C>A	noncoding	Benign
19	40489864	T	A	T40489864A	SPTBN4	NM_020971.3(SPTBN4):c.322-211T>A	noncoding	Benign
19	40494810	A	G	A40494810G	SPTBN4	NM_020971.3(SPTBN4):c.588-87A>G	noncoding	Benign
19	40497286	C	T	C40497286T	SPTBN4	NM_020971.3(SPTBN4):c.669-203C>T	noncoding	Benign
19	40502142	A	G	A40502142G	SPTBN4	NM_020971.3(SPTBN4):c.912A>G:p.Val304=	coding	Benign
19	40502271	A	G	A40502271G	SPTBN4	NM_020971.3(SPTBN4):c.1041A>G:p.Gln347=	coding	Benign
19	40504075	C	T	C40504075T	SPTBN4	NM_020971.3(SPTBN4):c.1608C>T:p.Ala536=	coding	Benign
19	40506190	C	T	C40506190T	SPTBN4	NM_020971.3(SPTBN4):c.1666-46C>T	noncoding	Benign
19	40506283	C	T	C40506283T	SPTBN4	NM_020971.3(SPTBN4):c.1713C>T:p.Asp571=	coding	Benign
19	40512925	A	G	A40512925G	SPTBN4	NM_020971.3(SPTBN4):c.2136A>G:p.Arg712=	coding	Benign
19	40512982	C	A	C40512982A	SPTBN4	NM_020971.3(SPTBN4):c.2193C>A:p.Ala731=	coding	Benign/Likely_benign
19	40513736	A	G	A40513736G	SPTBN4	NM_020971.3(SPTBN4):c.2765+182A>G	noncoding	Benign
19	40519315	G	T	G40519315T	SPTBN4	NM_020971.3(SPTBN4):c.2904-86G>T	noncoding	Benign
19	40519336	G	A	G40519336A	SPTBN4	NM_020971.3(SPTBN4):c.2904-65G>A	noncoding	Benign
19	40520086	C	T	C40520086T	SPTBN4	NM_020971.3(SPTBN4):c.3589C>T:p.Gln1197Ter	coding	Pathogenic
19	40529005	G	A	G40529005A	SPTBN4	NM_020971.3(SPTBN4):c.3858-36G>A	noncoding	Benign
19	40532667	G	A	G40532667A	SPTBN4	NM_020971.3(SPTBN4):c.3991G>A:p.Gly1331Ser	coding	Benign
19	40534427	G	A	G40534427A	SPTBN4	NM_020971.3(SPTBN4):c.4359+84G>A	noncoding	Benign
19	40534492	C	T	C40534492T	SPTBN4	NM_020971.3(SPTBN4):c.4359+149C>T	noncoding	Benign
19	40554710	A	G	A40554710G	SPTBN4	NM_020971.3(SPTBN4):c.5084+64A>G	noncoding	Benign
19	40557521	C	T	C40557521T	SPTBN4	NM_020971.3(SPTBN4):c.5670+118C>T	noncoding	Benign
19	40565795	C	T	C40565795T	SPTBN4	NM_020971.3(SPTBN4):c.6139+50C>T	noncoding	Benign
19	40567448	C	T	C40567448T	SPTBN4	NM_020971.3(SPTBN4):c.6337-215C>T	noncoding	Benign
19	40567477	C	T	C40567477T	SPTBN4	NM_020971.3(SPTBN4):c.6337-186C>T	noncoding	Benign
19	40567957	C	T	C40567957T	SPTBN4	NM_020971.3(SPTBN4):c.6631C>T:p.Pro2211Ser	coding	Benign
19	40569756	G	C	G40569756C	SPTBN4	NM_020971.3(SPTBN4):c.7026+30G>C	noncoding	Benign
19	40570649	C	G	C40570649G	SPTBN4	NM_020971.3(SPTBN4):c.7240C>G:p.Pro2414Ala	coding	Benign
19	40570843	C	G	C40570843G	SPTBN4	NM_020971.3(SPTBN4):c.7319+115C>G	noncoding	Benign
19	40571985	C	T	C40571985T	SPTBN4	NM_020971.3(SPTBN4):c.7320-34C>T	noncoding	Benign
19	40572314	G	C	G40572314C	SPTBN4	NM_020971.3(SPTBN4):c.7494-24G>C	noncoding	Benign
19	40575389	T	A	T40575389A	SPTBN4	NM_020971.3(SPTBN4):c.7537-22T>A	noncoding	Benign
19	40598954	G	T	G40598954T	LTBP4	NM_003573.2(LTBP4):c.17-243G>T	noncoding	Benign
19	40599071	C	T	C40599071T	LTBP4	NM_003573.2(LTBP4):c.17-126C>T	noncoding	Benign
19	40599401	G	A	G40599401A	LTBP4	NM_003573.2(LTBP4):c.76-1G>A	noncoding	Pathogenic
19	40600278	T	C	T40600278C	LTBP4	NM_003573.2(LTBP4):c.340+101T>C	noncoding	Benign
19	40605794	G	A	G40605794A	LTBP4	NM_001042545.2(LTBP4):c.756G>A:p.Trp252Ter	coding	Pathogenic
19	40605889	G	A	G40605889A	LTBP4	NM_001042545.2(LTBP4):c.793+58G>A	noncoding	Benign
19	40606699	G	C	G40606699C	LTBP4	NM_001042545.2(LTBP4):c.991+173G>C	noncoding	Benign
19	40608159	G	T	G40608159T	LTBP4	NM_001042545.2(LTBP4):c.1157-61G>T	noncoding	Benign
19	40608203	C	G	C40608203G	LTBP4	NM_001042545.2(LTBP4):c.1157-17C>G	noncoding	Benign/Likely_benign
19	40608391	T	C	T40608391C	LTBP4	NM_001042545.2(LTBP4):c.1306+22T>C	noncoding	Benign
19	40609708	C	T	C40609708T	LTBP4	NM_001042545.2(LTBP4):c.1559-38C>T	noncoding	Benign
19	40610008	T	C	T40610008C	LTBP4	NM_001042545.2(LTBP4):c.1684+137T>C	noncoding	Benign
19	40610095	G	A	G40610095A	LTBP4	NM_001042545.2(LTBP4):c.1684+224G>A	noncoding	Benign
19	40610345	G	C	G40610345C	LTBP4	NM_001042545.2(LTBP4):c.1685-187G>C	noncoding	Benign
19	40610491	G	A	G40610491A	LTBP4	NM_001042545.2(LTBP4):c.1685-41G>A	noncoding	Benign
19	40610960	T	C	T40610960C	LTBP4	NM_001042545.2(LTBP4):c.1811-192T>C	noncoding	Benign
19	40611370	C	T	C40611370T	LTBP4	NM_001042545.2(LTBP4):c.2029C>T:p.Arg677Ter	coding	Pathogenic
19	40611718	T	C	T40611718C	LTBP4	NM_001042545.2(LTBP4):c.2054-141T>C	noncoding	Benign
19	40612212	G	A	G40612212A	LTBP4	NM_001042545.2(LTBP4):c.2299+20G>A	noncoding	Benign/Likely_benign
19	40612441	T	G	T40612441G	LTBP4	NM_001042545.2(LTBP4):c.2299+249T>G	noncoding	Benign
19	40613367	G	C	G40613367C	LTBP4	NM_001042545.2(LTBP4):c.2432-37G>C	noncoding	Benign
19	40614177	A	T	A40614177T	LTBP4	NM_001042545.2(LTBP4):c.2681-138A>T	noncoding	Benign
19	40614471	G	A	G40614471A	LTBP4	NM_001042545.2(LTBP4):c.2812+25G>A	noncoding	Benign
19	40614665	C	G	C40614665G	LTBP4	NM_001042545.2(LTBP4):c.2812+219C>G	noncoding	Benign
19	40616653	C	T	C40616653T	LTBP4	NM_001042545.2(LTBP4):c.2813-236C>T	noncoding	Benign
19	40616765	C	T	C40616765T	LTBP4	NM_001042545.2(LTBP4):c.2813-124C>T	noncoding	Benign
19	40617195	G	A	G40617195A	LTBP4	NM_001042545.2(LTBP4):c.3040G>A:p.Glu1014Lys	coding	Benign
19	40617399	T	G	T40617399G	LTBP4	NM_001042545.2(LTBP4):c.3070+174T>G	noncoding	Benign
19	40619132	A	C	A40619132C	LTBP4	NM_001042545.2(LTBP4):c.3071-215A>C	noncoding	Benign
19	40619254	A	G	A40619254G	LTBP4	NM_001042545.2(LTBP4):c.3071-93A>G	noncoding	Benign
19	40619272	G	C	G40619272C	LTBP4	NM_001042545.2(LTBP4):c.3071-75G>C	noncoding	Benign
19	40619730	G	A	G40619730A	LTBP4	NM_001042545.2(LTBP4):c.3217+237G>A	noncoding	Benign
19	40622257	C	T	C40622257T	LTBP4	NM_001042545.2(LTBP4):c.3218-144C>T	noncoding	Benign
19	40622685	G	A	G40622685A	LTBP4	NM_001042545.2(LTBP4):c.3484+18G>A	noncoding	Benign/Likely_benign
19	40622806	A	G	A40622806G	LTBP4	NM_001042545.2(LTBP4):c.3484+139A>G	noncoding	Benign
19	40623267	T	C	T40623267C	LTBP4	NM_001042545.2(LTBP4):c.3556+246T>C	noncoding	Benign
19	40623758	C	G	C40623758G	LTBP4	NM_001042545.2(LTBP4):c.3685+26C>G	noncoding	Benign
19	40624090	C	T	C40624090T	LTBP4	NM_001042545.2(LTBP4):c.3832+8C>T	noncoding	Benign/Likely_benign
19	40624360	C	G	C40624360G	LTBP4	NM_001042545.2(LTBP4):c.3832+278C>G	noncoding	Benign
19	40625770	C	G	C40625770G	LTBP4	NM_001042545.2(LTBP4):c.3833-87C>G	noncoding	Benign
19	40625850	C	T	C40625850T	LTBP4	NM_001042545.2(LTBP4):c.3833-7C>T	noncoding	Benign/Likely_benign
19	40626117	C	G	C40626117G	LTBP4	NM_001042545.2(LTBP4):c.3985+108C>G	noncoding	Benign
19	40627939	T	C	T40627939C	LTBP4	NM_001042545.2(LTBP4):c.4519+82T>C	noncoding	Benign
19	40627983	G	C	G40627983C	LTBP4	NM_001042545.2(LTBP4):c.4519+126G>C	noncoding	Benign
19	40692938	A	G	A40692938G	COQ8B	NM_024876.4(COQ8B):c.1296+13T>C	noncoding	Benign
19	40700297	C	G	C40700297G	COQ8B	NM_024876.4(COQ8B):c.1035+13G>C	noncoding	Benign/Likely_benign
19	40700308	A	G	A40700308G	COQ8B	NM_024876.4(COQ8B):c.1035+2T>C	noncoding	Pathogenic
19	40702598	A	T	A40702598T	COQ8B	NM_024876.4(COQ8B):c.893+2T>A	noncoding	Pathogenic
19	40702599	C	A	C40702599A	COQ8B	NM_024876.4(COQ8B):c.893+1G>T	noncoding	Pathogenic
19	40702682	C	A	C40702682A	COQ8B	NM_024876.4(COQ8B):c.811G>T:p.Glu271Ter	coding	Pathogenic
19	40703351	A	G	A40703351G	COQ8B	NM_024876.4(COQ8B):c.799+190T>C	noncoding	Benign
19	40703592	C	T	C40703592T	COQ8B	NM_024876.4(COQ8B):c.748G>A:p.Asp250Asn	coding	Pathogenic
19	40710267	T	C	T40710267C	COQ8B	NM_024876.4(COQ8B):c.290-131A>G	noncoding	Benign
19	40799346	G	A	G40799346A	EGLN2	NM_080732.4(EGLN2):c.-235+84G>A	noncoding	Benign
19	40799402	G	T	G40799402T	EGLN2	NM_080732.4(EGLN2):c.-235+140G>T	noncoding	Benign
19	40799835	A	G	A40799835G	EGLN2	NM_080732.4(EGLN2):c.-234-504A>G	noncoding	Benign
19	40800164	C	T	C40800164T	EGLN2	NM_080732.4(EGLN2):c.-234-175C>T	noncoding	Benign
19	40800329	C	T	C40800329T	EGLN2	NM_080732.4(EGLN2):c.-234-10C>T	noncoding	Benign
19	40800457	G	A	G40800457A	EGLN2	NM_080732.4(EGLN2):c.-116G>A	noncoding	Benign
19	40801265	G	A	G40801265A	EGLN2	NM_080732.4(EGLN2):c.693G>A:p.Pro231=	coding	Benign
19	40806356	G	A	G40806356A	EGLN2	NM_080732.4(EGLN2):c.844-199G>A	noncoding	Benign
19	40806414	G	A	G40806414A	EGLN2	NM_080732.4(EGLN2):c.844-141G>A	noncoding	Benign
19	40806707	G	C	G40806707C	EGLN2	NM_080732.4(EGLN2):c.963+33G>C	noncoding	Benign
19	40807297	C	A	C40807297A	EGLN2	NM_080732.4(EGLN2):c.1100+23C>A	noncoding	Benign
19	41218915	G	A	G41218915A	AXL	Single_allele	noncoding	Benign
19	41218980	G	A	G41218980A	AXL	Single_allele	noncoding	Benign
19	41219366	A	G	A41219366G	AXL	NM_021913.5(AXL):c.-27A>G	noncoding	Benign
19	41219505	G	A	G41219505A	AXL	NM_021913.5(AXL):c.85+28G>A	noncoding	Benign
19	41220549	G	A	G41220549A	AXL	NM_021913.5(AXL):c.86-87G>A	noncoding	Benign
19	41221292	C	T	C41221292T	AXL	NM_021913.5(AXL):c.409+46C>T	noncoding	Benign
19	41221587	C	A	C41221587A	AXL	NM_021913.5(AXL):c.410-293C>A	noncoding	Benign
19	41221724	T	C	T41221724C	AXL	NM_021913.5(AXL):c.410-156T>C	noncoding	Benign
19	41222008	C	T	C41222008T	AXL	NM_021913.5(AXL):c.538C>T:p.Leu180=	coding	Benign
19	41231112	G	A	G41231112A	AXL	NM_021913.5(AXL):c.667+65G>A	noncoding	Benign
19	41231171	G	A	G41231171A	AXL	NM_021913.5(AXL):c.668-12G>A	noncoding	Benign
19	41231315	T	C	T41231315C	AXL	NM_021913.5(AXL):c.783+17T>C	noncoding	Benign
19	41231424	G	T	G41231424T	AXL	NM_021913.5(AXL):c.783+126G>T	noncoding	Benign
19	41231439	C	T	C41231439T	AXL	NM_021913.5(AXL):c.783+141C>T	noncoding	Benign
19	41231505	C	T	C41231505T	AXL	NM_021913.5(AXL):c.783+207C>T	noncoding	Benign
19	41231509	G	A	G41231509A	AXL	NM_021913.5(AXL):c.783+211G>A	noncoding	Benign
19	41238196	G	T	G41238196T	AXL	NM_021913.5(AXL):c.994+42G>T	noncoding	Benign
19	41238450	C	A	C41238450A	AXL	NM_021913.5(AXL):c.995-20C>A	noncoding	Benign
19	41238926	C	T	C41238926T	AXL	NM_021913.5(AXL):c.1135-238C>T	noncoding	Benign
19	41239376	C	G	C41239376G	AXL	NM_021913.5(AXL):c.1285+62C>G	noncoding	Benign
19	41239509	C	T	C41239509T	AXL	NM_021913.5(AXL):c.1286-185C>T	noncoding	Benign
19	41239535	G	A	G41239535A	AXL	NM_021913.5(AXL):c.1286-159G>A	noncoding	Benign
19	41239635	G	A	G41239635A	AXL	NM_021913.5(AXL):c.1286-59G>A	noncoding	Benign
19	41240025	C	T	C41240025T	AXL	NM_021913.5(AXL):c.1312+305C>T	noncoding	Benign
19	41242848	T	C	T41242848C	AXL	NM_021913.5(AXL):c.1313-35T>C	noncoding	Benign
19	41243140	C	T	C41243140T	AXL	NM_021913.5(AXL):c.1445+125C>T	noncoding	Benign
19	41243143	G	T	G41243143T	AXL	NM_021913.5(AXL):c.1445+128G>T	noncoding	Benign
19	41248312	G	T	G41248312T	AXL	NM_021913.5(AXL):c.1538-202G>T	noncoding	Benign
19	41253569	C	T	C41253569T	AXL	NM_021913.5(AXL):c.1927-30C>T	noncoding	Benign
19	41253732	C	T	C41253732T	AXL	NM_021913.5(AXL):c.2036+24C>T	noncoding	Benign
19	41256442	A	C	A41256442C	AXL	NM_021913.5(AXL):c.2037-10A>C	noncoding	Benign
19	41256620	A	G	A41256620G	AXL	NM_021913.5(AXL):c.2196+9A>G	noncoding	Benign
19	41256765	T	C	T41256765C	AXL	NM_021913.5(AXL):c.2196+154T>C	noncoding	Benign
19	41257726	A	G	A41257726G	AXL	NM_021913.5(AXL):c.2333+97A>G	noncoding	Benign
19	41259324	T	C	T41259324C	AXL	NM_021913.5(AXL):c.2334-229T>C	noncoding	Benign
19	41259502	A	C	A41259502C	AXL	NM_021913.5(AXL):c.2334-51A>C	noncoding	Benign
19	41331218	C	T	C41331218T	TGFB1	NM_000660.7(TGFB1):c.1015-8G>A	noncoding	Benign
19	41331842	G	A	G41331842A	TGFB1	NM_000660.7(TGFB1):c.1014+286C>T	noncoding	Benign
19	41332113	G	A	G41332113A	TGFB1	NM_000660.7(TGFB1):c.1014+15C>T	noncoding	Benign
19	41341832	G	A	G41341832A	TGFB1	NM_000660.7(TGFB1):c.860+51C>T	noncoding	Benign
19	41342442	A	C	A41342442C	TGFB1	NM_000660.7(TGFB1):c.635-195T>G	noncoding	Benign
19	41344805	C	T	C41344805T	TGFB1	NM_000660.7(TGFB1):c.576G>A:p.Ser192=	coding	Benign
19	41345137	G	A	G41345137A	TGFB1	NM_000660.7(TGFB1):c.517-273C>T	noncoding	Benign
19	41348147	C	A	C41348147A	TGFB1	NM_000660.7(TGFB1):c.516+148G>T	noncoding	Benign
19	41348181	C	T	C41348181T	TGFB1	NM_000660.7(TGFB1):c.516+114G>A	noncoding	Benign
19	41348370	G	A	G41348370A	TGFB1	NM_000660.7(TGFB1):c.441C>T:p.Pro147=	coding	Benign
19	41348480	C	A	C41348480A	TGFB1	NM_000660.7(TGFB1):c.356-25G>T	noncoding	Benign
19	41348629	T	A	T41348629A	TGFB1	NM_000660.7(TGFB1):c.356-174A>T	noncoding	Benign
19	41348769	T	A	T41348769A	TGFB1	NM_000660.7(TGFB1):c.356-314A>T	noncoding	Benign
19	41348769	T	G	T41348769G	TGFB1	NM_000660.7(TGFB1):c.356-314A>C	noncoding	Benign
19	41357872	A	C	A41357872C	B9D2	NM_030578.4(B9D2):c.214+25T>G	noncoding	Benign
19	41358065	C	T	C41358065T	B9D2	NM_030578.4(B9D2):c.89-43G>A	noncoding	Benign
19	41358089	A	G	A41358089G	B9D2	NM_030578.4(B9D2):c.89-67T>C	noncoding	Benign
19	41363563	G	C	G41363563C	B9D2	NM_030578.4(B9D2):c.-4-40C>G	noncoding	Benign
19	41363851	C	T	C41363851T	B9D2	NM_030578.4(B9D2):c.-5+107G>A	noncoding	Benign
19	41386724	A	T	A41386724T	EXOSC5	NM_020158.4(EXOSC5):c.617T>A:p.Leu206His	coding	Pathogenic
19	41397315	G	A	G41397315A	EXOSC5	NM_020158.4(EXOSC5):c.14C>T:p.Thr5Met	coding	Benign
19	41397766	A	G	A41397766G	BCKDHA	Single_allele	noncoding	Benign
19	41397770	A	G	A41397770G	BCKDHA	Single_allele	noncoding	Benign
19	41397794	T	G	T41397794G	BCKDHA	NM_000709.3(BCKDHA):c.-34T>G	noncoding	Benign/Likely_benign
19	41397860	G	A	G41397860A	BCKDHA	NM_000709.4(BCKDHA):c.33G>A:p.Trp11Ter	coding	Pathogenic
19	41410655	C	T	C41410655T	BCKDHA	NM_000709.4(BCKDHA):c.127C>T:p.Gln43Ter	coding	Pathogenic/Likely_pathogenic
19	41410658	C	T	C41410658T	BCKDHA	NM_000709.4(BCKDHA):c.130C>T:p.Gln44Ter	coding	Pathogenic
19	41410665	C	A	C41410665A	BCKDHA	NM_000709.4(BCKDHA):c.137C>A:p.Ser46Ter	coding	Pathogenic/Likely_pathogenic
19	41411083	A	G	A41411083G	BCKDHA	NM_000709.4(BCKDHA):c.375+74A>G	noncoding	Benign
19	41414127	G	A	G41414127A	BCKDHA	NM_000709.4(BCKDHA):c.454G>A:p.Asp152Asn	coding	Pathogenic
19	41414326	T	A	T41414326A	BCKDHA	NM_000709.4(BCKDHA):c.484+169T>A	noncoding	Benign
19	41419309	G	A	G41419309A	BCKDHA	NM_000709.4(BCKDHA):c.646+13G>A	noncoding	Benign/Likely_benign
19	41422170	G	C	G41422170C	BCKDHA	NM_000709.4(BCKDHA):c.653G>C:p.Gly218Ala	coding	Pathogenic
19	41422229	G	T	G41422229T	BCKDHA	NM_000709.4(BCKDHA):c.712G>T:p.Glu238Ter	coding	Pathogenic/Likely_pathogenic
19	41422274	G	A	G41422274A	BCKDHA	NM_000709.4(BCKDHA):c.757G>A:p.Ala253Thr	coding	Pathogenic/Likely_pathogenic
19	41422311	G	A	G41422311A	BCKDHA	NM_000709.4(BCKDHA):c.794G>A:p.Arg265Gln	coding	Pathogenic/Likely_pathogenic
19	41422488	G	A	G41422488A	BCKDHA	NM_000709.4(BCKDHA):c.853+118G>A	noncoding	Benign
19	41422659	C	A	C41422659A	BCKDHA	NM_000709.4(BCKDHA):c.884C>A:p.Ser295Ter	coding	Pathogenic
19	41422860	C	T	C41422860T	BCKDHA	NM_000709.4(BCKDHA):c.995+90C>T	noncoding	Benign
19	41422980	C	T	C41422980T	BCKDHA	NM_000709.4(BCKDHA):c.996-18C>T	noncoding	Benign/Likely_benign
19	41423030	C	G	C41423030G	BCKDHA	NM_000709.4(BCKDHA):c.1028C>G:p.Ser343Ter	coding	Pathogenic
19	41423039	G	A	G41423039A	BCKDHA	NM_000709.4(BCKDHA):c.1037G>A:p.Arg346His	coding	Pathogenic/Likely_pathogenic
19	41423121	G	A	G41423121A	BCKDHA	NM_000709.4(BCKDHA):c.1119G>A:p.Trp373Ter	coding	Pathogenic/Likely_pathogenic
19	41424372	C	T	C41424372T	BCKDHA	NM_000709.4(BCKDHA):c.1168-66C>T	noncoding	Benign
19	41424576	G	T	G41424576T	BCKDHA	NM_000709.4(BCKDHA):c.1306G>T:p.Glu436Ter	coding	Pathogenic
19	41425578	A	G	A41425578G	B3GNT8	NM_001385648.2(B3GNT8):c.*7T>C	noncoding	Benign
19	41426158	A	G	A41426158G	B3GNT8	NM_001385648.2(B3GNT8):c.621T>C:p.Ser207=	coding	Benign
19	41426179	G	T	G41426179T	B3GNT8	NM_001385648.2(B3GNT8):c.600C>A:p.Ala200=	coding	Benign
19	41426215	C	T	C41426215T	B3GNT8	NM_001385648.2(B3GNT8):c.564G>A:p.Val188=	coding	Benign
19	41426370	T	C	T41426370C	B3GNT8	NM_001385648.2(B3GNT8):c.409A>G:p.Ser137Gly	coding	Benign
19	41426386	C	T	C41426386T	B3GNT8	NM_001385648.2(B3GNT8):c.393G>A:p.Leu131=	coding	Benign
19	41426707	C	T	C41426707T	B3GNT8	NM_001385648.2(B3GNT8):c.72G>A:p.Glu24=	coding	Benign
19	41426853	T	C	T41426853C	B3GNT8	NM_001385648.2(B3GNT8):c.-32-43A>G	noncoding	Benign
19	41426923	G	A	G41426923A	B3GNT8	NM_001385648.2(B3GNT8):c.-32-113C>T	noncoding	Benign
19	41427058	C	T	C41427058T	B3GNT8	NM_001385648.2(B3GNT8):c.-33+226G>A	noncoding	Benign
19	41860315	G	T	G41860315T	RPS19	NM_001022.4(RPS19):c.-1+26G>T	noncoding	Benign
19	41860383	C	G	C41860383G	RPS19	NM_001022.4(RPS19):c.-1+94C>G	noncoding	Benign
19	41860808	C	T	C41860808T	RPS19	NM_001022.4(RPS19):c.34C>T:p.Gln12Ter	coding	Pathogenic
19	41860827	T	C	T41860827C	RPS19	NM_001022.4(RPS19):c.53T>C:p.Leu18Pro	coding	Pathogenic
19	41861095	C	G	C41861095G	RPS19	NM_001022.4(RPS19):c.72-17C>G	noncoding	Benign
19	41861119	A	T	A41861119T	RPS19	NM_001022.4(RPS19):c.79A>T:p.Lys27Ter	coding	Pathogenic
19	41861202	C	G	C41861202G	RPS19	NM_001022.4(RPS19):c.162C>G:p.Tyr54Ter	coding	Pathogenic
19	41869012	C	G	C41869012G	RPS19	NM_001022.4(RPS19):c.173-19C>G	noncoding	Benign
19	41869030	G	T	G41869030T	RPS19	NM_001022.4(RPS19):c.173-1G>T	noncoding	Pathogenic
19	41871220	T	C	T41871220C	RPS19	NM_001022.4(RPS19):c.412-131T>C	noncoding	Benign
19	41878687	G	A	G41878687A	CD79A	NM_001783.4(CD79A):c.80-303G>A	noncoding	Benign
19	41879848	G	T	G41879848T	CD79A	NM_001783.4(CD79A):c.498+195G>T	noncoding	Benign
19	41884481	C	A	C41884481A	ARHGEF1	NM_004706.4(ARHGEF1):c.-20+1192C>A	coding	Benign
19	41888059	T	C	T41888059C	ARHGEF1	NM_004706.4(ARHGEF1):c.-19-5T>C	noncoding	Benign
19	41888182	C	G	C41888182G	ARHGEF1	NM_004706.4(ARHGEF1):c.25-10C>G	noncoding	Benign
19	41888239	C	T	C41888239T	ARHGEF1	NM_004706.4(ARHGEF1):c.72C>T:p.Ile24=	coding	Benign
19	41888736	C	T	C41888736T	ARHGEF1	NM_004706.4(ARHGEF1):c.112-16C>T	noncoding	Benign
19	41888748	C	G	C41888748G	ARHGEF1	NM_004706.4(ARHGEF1):c.112-4C>G	noncoding	Benign
19	41888856	A	G	A41888856G	ARHGEF1	NM_004706.4(ARHGEF1):c.216A>G:p.Pro72=	coding	Benign
19	41894474	C	T	C41894474T	ARHGEF1	NM_004706.4(ARHGEF1):c.768C>T:p.Asp256=	coding	Benign
19	41894619	G	A	G41894619A	ARHGEF1	NM_004706.4(ARHGEF1):c.842-7G>A	noncoding	Benign
19	41896372	C	T	C41896372T	ARHGEF1	NM_004706.4(ARHGEF1):c.1016-5C>T	noncoding	Benign
19	41902293	G	A	G41902293A	ARHGEF1	NM_004706.4(ARHGEF1):c.1434G>A:p.Leu478=	coding	Benign
19	41902376	C	T	C41902376T	ARHGEF1	NM_004706.4(ARHGEF1):c.1497+20C>T	noncoding	Benign
19	41903798	C	T	C41903798T	ARHGEF1	NM_004706.4(ARHGEF1):c.1917+14C>T	noncoding	Benign
19	41904274	G	A	G41904274A	ARHGEF1	NM_004706.4(ARHGEF1):c.2052G>A:p.Arg684=	coding	Benign
19	41905184	T	G	T41905184G	ARHGEF1	NM_004706.4(ARHGEF1):c.2259T>G:p.Ala753=	coding	Benign/Likely_benign
19	41905268	G	C	G41905268C	ARHGEF1	NM_004706.4(ARHGEF1):c.2336+7G>C	noncoding	Benign
19	41905814	G	A	G41905814A	ARHGEF1	NM_004706.4(ARHGEF1):c.2391G>A:p.Thr797=	coding	Benign
19	41905934	T	C	T41905934C	ARHGEF1	NM_004706.4(ARHGEF1):c.2405-5T>C	noncoding	Benign
19	41966641	G	A	G41966641A	ATP1A3	NM_152296.5(ATP1A3):c.*296C>T	noncoding	Benign
19	41966810	T	G	T41966810G	ATP1A3	NM_152296.5(ATP1A3):c.*127A>C	noncoding	Benign
19	41967248	C	T	C41967248T	ATP1A3	NM_152296.5(ATP1A3):c.3013+1G>A	noncoding	Pathogenic
19	41967373	G	A	G41967373A	ATP1A3	NM_152296.5(ATP1A3):c.2922-33C>T	noncoding	Benign
19	41967651	G	A	G41967651A	ATP1A3	NM_152296.5(ATP1A3):c.2921+11C>T	noncoding	Benign
19	41967697	G	A	G41967697A	ATP1A3	NM_152296.5(ATP1A3):c.2886C>T:p.Pro962=	coding	Benign/Likely_benign
19	41967831	C	T	C41967831T	ATP1A3	NM_152296.5(ATP1A3):c.2820-68G>A	noncoding	Benign
19	41968765	C	T	C41968765T	ATP1A3	NM_152296.5(ATP1A3):c.2819+20G>A	noncoding	Benign
19	41968841	C	T	C41968841T	ATP1A3	NM_152296.5(ATP1A3):c.2763G>A:p.Trp921Ter	coding	Pathogenic
19	41969132	G	T	G41969132T	ATP1A3	NM_152296.5(ATP1A3):c.2689-217C>A	noncoding	Benign
19	41969470	C	T	C41969470T	ATP1A3	NM_152296.5(ATP1A3):c.2653G>A:p.Val885Ile	coding	Benign/Likely_benign
19	41969571	T	G	T41969571G	ATP1A3	NM_152296.5(ATP1A3):c.2552A>C:p.Gln851Pro	coding	Pathogenic
19	41970048	A	T	A41970048T	ATP1A3	NM_152296.5(ATP1A3):c.2542+137T>A	noncoding	Benign
19	41970248	T	A	T41970248A	ATP1A3	NM_152296.5(ATP1A3):c.2479A>T:p.Arg827Trp	coding	Pathogenic
19	41970314	C	T	C41970314T	ATP1A3	NM_152296.5(ATP1A3):c.2419-6G>A	noncoding	Benign/Likely_benign
19	41970325	G	A	G41970325A	ATP1A3	NM_152296.5(ATP1A3):c.2419-17C>T	noncoding	Benign
19	41970334	G	A	G41970334A	ATP1A3	NM_152296.5(ATP1A3):c.2419-26C>T	noncoding	Benign
19	41970399	C	T	C41970399T	ATP1A3	NM_152296.5(ATP1A3):c.2407G>A:p.Gly803Ser	coding	Pathogenic
19	41970491	C	T	C41970491T	ATP1A3	NM_152296.5(ATP1A3):c.2315G>A:p.Ser772Asn	coding	Pathogenic/Likely_pathogenic
19	41970558	G	A	G41970558A	ATP1A3	NM_152296.5(ATP1A3):c.2264-16C>T	noncoding	Benign
19	41975586	C	T	C41975586T	ATP1A3	NM_152296.5(ATP1A3):c.2263+43G>A	noncoding	Benign
19	41975666	G	A	G41975666A	ATP1A3	NM_152296.5(ATP1A3):c.2226C>T:p.Asp742=	coding	Benign/Likely_benign
19	41975667	T	A	T41975667A	ATP1A3	NM_152296.5(ATP1A3):c.2225A>T:p.Asp742Val	coding	Pathogenic
19	41976551	G	T	G41976551T	ATP1A3	NM_152296.5(ATP1A3):c.1959C>A:p.Cys653Ter	coding	Pathogenic
19	41976586	C	A	C41976586A	ATP1A3	NM_152296.5(ATP1A3):c.1944-20G>T	noncoding	Benign
19	41977949	G	A	G41977949A	ATP1A3	NM_152296.5(ATP1A3):c.1930C>T:p.Gln644Ter	coding	Pathogenic
19	41978074	T	A	T41978074A	ATP1A3	NM_152296.5(ATP1A3):c.1807-2A>T	noncoding	Pathogenic
19	41978687	C	G	C41978687G	ATP1A3	NM_152296.5(ATP1A3):c.1549G>C:p.Glu517Gln	coding	Benign
19	41981426	G	C	G41981426C	ATP1A3	NM_152296.5(ATP1A3):c.1437+76C>G	noncoding	Benign
19	41981510	T	A	T41981510A	ATP1A3	NM_152296.5(ATP1A3):c.1429A>T:p.Lys477Ter	coding	Pathogenic
19	41981905	C	T	C41981905T	ATP1A3	NM_152296.5(ATP1A3):c.1192+3G>A	noncoding	Benign/Likely_benign
19	41981935	C	T	C41981935T	ATP1A3	NM_152296.5(ATP1A3):c.1165G>A:p.Glu389Lys	coding	Pathogenic
19	41982012	A	G	A41982012G	ATP1A3	NM_152296.5(ATP1A3):c.1088T>C:p.Ile363Thr	coding	Pathogenic
19	41982019	A	G	A41982019G	ATP1A3	NM_152296.5(ATP1A3):c.1081T>C:p.Ser361Pro	coding	Pathogenic
19	41982027	C	T	C41982027T	ATP1A3	NM_152296.5(ATP1A3):c.1073G>A:p.Gly358Asp	coding	Pathogenic
19	41982126	A	C	A41982126C	ATP1A3	NM_152296.5(ATP1A3):c.994-20T>G	noncoding	Benign
19	41984867	G	A	G41984867A	ATP1A3	NM_152296.5(ATP1A3):c.993+51C>T	noncoding	Benign
19	41984964	C	A	C41984964A	ATP1A3	NM_152296.5(ATP1A3):c.947G>T:p.Gly316Val	coding	Pathogenic
19	41985036	A	C	A41985036C	ATP1A3	NM_152296.5(ATP1A3):c.875T>G:p.Leu292Arg	coding	Pathogenic
19	41985218	G	T	G41985218T	ATP1A3	NM_152296.5(ATP1A3):c.725-32C>A	noncoding	Benign
19	41985325	A	C	A41985325C	ATP1A3	NM_152296.5(ATP1A3):c.705T>G:p.Phe235Leu	coding	Benign
19	41985908	G	A	G41985908A	ATP1A3	NM_152296.5(ATP1A3):c.562C>T:p.Arg188Ter	coding	Pathogenic
19	41988626	A	G	A41988626G	ATP1A3	NM_152296.5(ATP1A3):c.7-64T>C	noncoding	Benign
19	41993888	G	A	G41993888A	ATP1A3	NM_152296.5(ATP1A3):c.6+183C>T	noncoding	Benign
19	42224882	A	C	A42224882C	ZNF526	NM_133444.3(ZNF526):c.479A>C:p.Lys160Thr	coding	Pathogenic/Likely_pathogenic
19	42225630	C	G	C42225630G	ZNF526	NM_133444.3(ZNF526):c.1227C>G:p.His409Gln	coding	Pathogenic
19	42248882	A	G	A42248882G	ERF	NM_006494.4(ERF):c.1230T>C:p.Ala410=	coding	Benign
19	42249131	G	A	G42249131A	ERF	NM_006494.4(ERF):c.981C>T:p.Ser327=	coding	Benign
19	42249497	G	C	G42249497C	ERF	NM_006494.4(ERF):c.615C>G:p.Arg205=	coding	Benign
19	42249598	G	A	G42249598A	ERF	NM_006494.4(ERF):c.514C>T:p.Leu172Phe	coding	Benign
19	42250251	G	A	G42250251A	ERF	NM_006494.4(ERF):c.257+80C>T	noncoding	Benign
19	42250456	G	A	G42250456A	ERF	NM_006494.4(ERF):c.132C>T:p.Gly44=	coding	Benign
19	42250517	G	C	G42250517C	ERF	NM_006494.4(ERF):c.71C>G:p.Ser24Ter	coding	Pathogenic
19	42250786	A	G	A42250786G	ERF	NM_006494.4(ERF):c.23-221T>C	noncoding	Benign
19	42254976	A	C	A42254976C	ERF	NM_006494.4(ERF):c.22+2T>G	noncoding	Pathogenic
19	42255478	T	A	T42255478A	ERF	Single_allele	noncoding	Benign
19	42272348	C	A	C42272348A	CIC	NM_001386298.1(CIC):c.565C>A:p.Pro189Thr	coding	Benign
19	42273109	G	A	G42273109A	CIC	NM_001386298.1(CIC):c.1326G>A:p.Ser442=	coding	Benign
19	42273451	G	A	G42273451A	CIC	NM_001386298.1(CIC):c.1668G>A:p.Thr556_Glu557=	coding	Benign
19	42287241	G	T	G42287241T	CIC	NM_001386298.1(CIC):c.3179+1G>T	coding	Pathogenic
19	42287635	C	T	C42287635T	CIC	NM_001386298.1(CIC):c.3400C>T:p.Gln1134Ter	coding	Pathogenic
19	42287645	G	A	G42287645A	CIC	NM_001386298.1(CIC):c.3410G>A:p.Arg1137Gln	coding	Pathogenic
19	42291402	T	C	T42291402C	CIC	NM_001386298.1(CIC):c.5361T>C:p.Ala1787=	coding	Benign
19	42294897	C	T	C42294897T	CIC	NM_001386298.1(CIC):c.7260C>T:p.Ile2420=	coding	Benign
19	42326085	A	T	A42326085T	MEGF8	NM_001271938.2(MEGF8):c.-159A>T	noncoding	Benign
19	42334265	G	C	G42334265C	MEGF8	NM_001271938.2(MEGF8):c.558+52G>C	noncoding	Benign
19	42335071	G	C	G42335071C	MEGF8	NM_001271938.2(MEGF8):c.595G>C:p.Gly199Arg	coding	Pathogenic
19	42336218	C	T	C42336218T	MEGF8	NM_001271938.2(MEGF8):c.1116C>T:p.Ser372=	coding	Benign
19	42336817	C	T	C42336817T	MEGF8	NM_001271938.2(MEGF8):c.1255C>T:p.Arg419Ter	coding	Pathogenic
19	42337405	T	C	T42337405C	MEGF8	NM_001271938.2(MEGF8):c.1513+199T>C	noncoding	Benign
19	42343241	T	C	T42343241C	MEGF8	NM_001271938.2(MEGF8):c.1514-236T>C	noncoding	Benign
19	42343302	C	T	C42343302T	MEGF8	NM_001271938.2(MEGF8):c.1514-175C>T	noncoding	Benign
19	42343535	C	T	C42343535T	MEGF8	NM_001271938.2(MEGF8):c.1572C>T:p.Ser524=	coding	Benign
19	42344292	G	A	G42344292A	MEGF8	NM_001271938.2(MEGF8):c.1789-149G>A	noncoding	Benign
19	42344598	A	G	A42344598G	MEGF8	NM_001271938.2(MEGF8):c.1933+13A>G	noncoding	Benign
19	42344612	A	G	A42344612G	MEGF8	NM_001271938.2(MEGF8):c.1933+27A>G	noncoding	Benign
19	42344663	T	C	T42344663C	MEGF8	NM_001271938.2(MEGF8):c.1934-7T>C	noncoding	Benign
19	42348328	G	A	G42348328A	MEGF8	NM_001271938.2(MEGF8):c.2154G>A:p.Val718=	coding	Benign
19	42348397	C	T	C42348397T	MEGF8	NM_001271938.2(MEGF8):c.2223C>T:p.Asp741=	coding	Benign
19	42349630	T	C	T42349630C	MEGF8	NM_001271938.2(MEGF8):c.2430T>C:p.Asn810=	coding	Benign
19	42349849	T	G	T42349849G	MEGF8	NM_001271938.2(MEGF8):c.2499+150T>G	noncoding	Benign
19	42350453	G	A	G42350453A	MEGF8	NM_001271938.2(MEGF8):c.2736+69G>A	noncoding	Benign
19	42351015	T	C	T42351015C	MEGF8	NM_001271938.2(MEGF8):c.2737-201T>C	noncoding	Benign
19	42353027	C	T	C42353027T	MEGF8	NM_001271938.2(MEGF8):c.3450C>T:p.Pro1150=	coding	Benign
19	42353245	C	T	C42353245T	MEGF8	NM_001271938.2(MEGF8):c.3550+118C>T	noncoding	Benign
19	42353293	A	G	A42353293G	MEGF8	NM_001271938.2(MEGF8):c.3550+166A>G	noncoding	Benign
19	42353517	C	T	C42353517T	MEGF8	NM_001271938.2(MEGF8):c.3603C>T:p.Asn1201=	coding	Benign
19	42354516	C	G	C42354516G	MEGF8	NM_001271938.2(MEGF8):c.4012-72C>G	noncoding	Benign
19	42354641	T	C	T42354641C	MEGF8	NM_001271938.2(MEGF8):c.4065T>C:p.Val1355=	coding	Benign
19	42356321	G	A	G42356321A	MEGF8	NM_001271938.2(MEGF8):c.4504-14G>A	noncoding	Benign
19	42357141	G	A	G42357141A	MEGF8	NM_001271938.2(MEGF8):c.4830+160G>A	noncoding	Benign
19	42357323	G	A	G42357323A	MEGF8	NM_001271938.2(MEGF8):c.4831-81G>A	noncoding	Benign
19	42357599	C	T	C42357599T	MEGF8	NM_001271938.2(MEGF8):c.5011+15C>T	noncoding	Benign/Likely_benign
19	42357700	A	G	A42357700G	MEGF8	NM_001271938.2(MEGF8):c.5011+116A>G	noncoding	Benign
19	42358749	G	A	G42358749A	MEGF8	NM_001271938.2(MEGF8):c.5176-38G>A	noncoding	Benign
19	42358883	A	G	A42358883G	MEGF8	NM_001271938.2(MEGF8):c.5272A>G:p.Lys1758Glu	coding	Benign
19	42359254	T	C	T42359254C	MEGF8	NM_001271938.2(MEGF8):c.5488+12T>C	noncoding	Benign
19	42360759	C	T	C42360759T	MEGF8	NM_001271938.2(MEGF8):c.5489-16C>T	noncoding	Benign/Likely_benign
19	42361131	G	A	G42361131A	MEGF8	NM_001271938.2(MEGF8):c.5720+125G>A	noncoding	Benign
19	42362120	A	G	A42362120G	MEGF8	NM_001271938.2(MEGF8):c.5751A>G:p.Pro1917=	coding	Benign
19	42362867	C	T	C42362867T	MEGF8	NM_001271938.2(MEGF8):c.6059-181C>T	noncoding	Benign
19	42363395	G	T	G42363395T	MEGF8	NM_001271938.2(MEGF8):c.6273+133G>T	noncoding	Benign
19	42368673	T	G	T42368673G	MEGF8	NM_001271938.2(MEGF8):c.6481+11T>G	noncoding	Benign
19	42369017	G	A	G42369017A	MEGF8	NM_001271938.2(MEGF8):c.6641+15G>A	noncoding	Benign/Likely_benign
19	42369218	G	C	G42369218C	MEGF8	NM_001271938.2(MEGF8):c.6641+216G>C	noncoding	Benign
19	42369930	G	C	G42369930C	MEGF8	NM_001271938.2(MEGF8):c.6834+207G>C	noncoding	Benign
19	42370069	C	G	C42370069G	MEGF8	NM_001271938.2(MEGF8):c.6835-120C>G	noncoding	Benign
19	42370130	C	T	C42370130T	MEGF8	NM_001271938.2(MEGF8):c.6835-59C>T	noncoding	Benign
19	42370843	C	T	C42370843T	MEGF8	NM_001271938.2(MEGF8):c.7136+12C>T	noncoding	Benign
19	42370857	G	T	G42370857T	MEGF8	NM_001271938.2(MEGF8):c.7136+26G>T	noncoding	Benign
19	42370864	G	T	G42370864T	MEGF8	NM_001271938.2(MEGF8):c.7136+33G>T	noncoding	Benign
19	42370873	A	G	A42370873G	MEGF8	NM_001271938.2(MEGF8):c.7136+42A>G	noncoding	Benign
19	42371809	A	T	A42371809T	MEGF8	NM_001271938.2(MEGF8):c.7269+327A>T	noncoding	Benign
19	42375201	G	A	G42375201A	MEGF8	NM_001271938.2(MEGF8):c.7270-306G>A	noncoding	Benign
19	42375230	C	T	C42375230T	MEGF8	NM_001271938.2(MEGF8):c.7270-277C>T	noncoding	Benign
19	42375314	C	T	C42375314T	MEGF8	NM_001271938.2(MEGF8):c.7270-193C>T	noncoding	Benign
19	42402119	G	C	G42402119C	LIPE	NM_005357.4(LIPE):c.2968-44C>G	noncoding	Benign
19	42402121	C	G	C42402121G	LIPE	NM_005357.4(LIPE):c.2968-46G>C	noncoding	Benign
19	42403292	T	A	T42403292A	LIPE	NM_005357.4(LIPE):c.2543-261A>T	noncoding	Benign
19	42406345	G	A	G42406345A	LIPE	NM_005357.4(LIPE):c.2181C>T:p.Gly727=	coding	Benign
19	42406936	G	A	G42406936A	LIPE	NM_005357.4(LIPE):c.2137+238C>T	noncoding	Benign
19	42410457	G	A	G42410457A	LIPE	NM_005357.4(LIPE):c.1269C>T:p.Arg423=	coding	Benign
19	42426136	A	T	A42426136T	LIPE	NM_005357.4(LIPE):c.883+131T>A	noncoding	Benign
19	42426500	C	T	C42426500T	LIPE	NM_005357.4(LIPE):c.650G>A:p.Arg217Gln	coding	Benign
19	42426621	A	T	A42426621T	LIPE	NM_005357.4(LIPE):c.529T>A:p.Ser177Thr	coding	Benign
19	42426852	A	G	A42426852G	LIPE	NM_005357.4(LIPE):c.298T>C:p.Tyr100His	coding	Benign
19	42426870	C	T	C42426870T	LIPE	NM_005357.4(LIPE):c.280G>A:p.Ala94Thr	coding	Benign/Likely_benign
19	43362297	G	A	G43362297A	CD177	NM_020406.4(CD177):c.1291G>A:p.Gly431Arg	coding	Benign
19	43506795	C	A	C43506795A	ETHE1	NM_014297.5(ETHE1):c.*55G>T	noncoding	Benign
19	43507853	G	A	G43507853A	ETHE1	NM_014297.5(ETHE1):c.712+91C>T	noncoding	Benign
19	43507856	C	T	C43507856T	ETHE1	NM_014297.5(ETHE1):c.712+88G>A	noncoding	Benign
19	43508034	C	A	C43508034A	ETHE1	NM_014297.5(ETHE1):c.622G>T:p.Glu208Ter	coding	Pathogenic
19	43508728	A	G	A43508728G	ETHE1	NM_014297.5(ETHE1):c.595+47T>C	noncoding	Benign
19	43526060	A	G	A43526060G	ETHE1	NM_014297.5(ETHE1):c.375+141T>C	noncoding	Benign
19	43526251	G	A	G43526251A	ETHE1	NM_014297.5(ETHE1):c.325C>T:p.Gln109Ter	coding	Pathogenic
19	43527135	G	A	G43527135A	ETHE1	NM_014297.5(ETHE1):c.43C>T:p.Gln15Ter	coding	Pathogenic
19	43527239	G	C	G43527239C	ETHE1	NM_014297.5(ETHE1):c.-62C>G	noncoding	Benign/Likely_benign
19	43543398	T	C	T43543398C	XRCC1	NM_006297.3(XRCC1):c.1896A>G:p.Gln632=	coding	Benign
19	43546043	C	T	C43546043T	XRCC1	NM_006297.3(XRCC1):c.1481+9G>A	noncoding	Benign
19	43553075	T	C	T43553075C	XRCC1	NM_006297.3(XRCC1):c.618A>G:p.Pro206=	coding	Benign
19	43553422	G	A	G43553422A	XRCC1	NM_006297.3(XRCC1):c.580C>T:p.Arg194Trp	coding	Benign
19	43744726	A	G	A43744726G	SMG9	NM_019108.4(SMG9):c.701+46T>C	noncoding	Benign
19	43747479	A	G	A43747479G	SMG9	NM_019108.4(SMG9):c.551T>C:p.Val184Ala	coding	Pathogenic
19	43767783	A	G	A43767783G	KCNN4	NM_002250.3(KCNN4):c.1120-76T>C	noncoding	Benign
19	43769364	T	C	T43769364C	KCNN4	NM_002250.3(KCNN4):c.1049+78A>G	noncoding	Benign
19	43769549	G	A	G43769549A	KCNN4	NM_002250.3(KCNN4):c.942C>T:p.Ser314=	coding	Benign
19	43769551	A	G	A43769551G	KCNN4	NM_002250.3(KCNN4):c.940T>C:p.Ser314Pro	coding	Pathogenic
19	43769889	G	A	G43769889A	KCNN4	NM_002250.3(KCNN4):c.820-60C>T	noncoding	Benign
19	43769980	C	T	C43769980T	KCNN4	NM_002250.3(KCNN4):c.820-151G>A	noncoding	Benign
19	43771748	T	C	T43771748C	KCNN4	NM_002250.3(KCNN4):c.819+252A>G	noncoding	Benign
19	43772218	A	G	A43772218G	KCNN4	NM_002250.3(KCNN4):c.684-83T>C	noncoding	Benign
19	43772361	T	A	T43772361A	KCNN4	NM_002250.3(KCNN4):c.684-226A>T	noncoding	Benign
19	43772435	G	A	G43772435A	KCNN4	NM_002250.3(KCNN4):c.684-300C>T	noncoding	Benign
19	43774627	T	G	T43774627G	KCNN4	NM_002250.3(KCNN4):c.256-8A>C	noncoding	Benign
19	43774629	G	A	G43774629A	KCNN4	NM_002250.3(KCNN4):c.256-10C>T	noncoding	Benign
19	43776326	G	A	G43776326A	KCNN4	NM_002250.3(KCNN4):c.255+215C>T	noncoding	Benign
19	43776357	G	T	G43776357T	KCNN4	NM_002250.3(KCNN4):c.255+184C>A	noncoding	Benign
19	43776685	G	A	G43776685A	KCNN4	NM_002250.3(KCNN4):c.160-49C>T	noncoding	Benign
19	43776828	T	G	T43776828G	KCNN4	NM_002250.3(KCNN4):c.160-192A>C	noncoding	Benign
19	43778879	T	C	T43778879C	KCNN4	NM_002250.3(KCNN4):c.159+1824A>G	noncoding	Benign
19	43780496	T	C	T43780496C	KCNN4	NM_002250.3(KCNN4):c.159+207A>G	noncoding	Benign
19	44701028	G	T	G44701028T	CEACAM16	NM_001039213.4(CEACAM16):c.-96-333G>T	noncoding	Benign
19	44701052	C	A	C44701052A	CEACAM16	NM_001039213.4(CEACAM16):c.-96-309C>A	noncoding	Benign
19	44701353	C	G	C44701353G	CEACAM16	NM_001039213.4(CEACAM16):c.-96-8C>G	noncoding	Benign
19	44701500	G	A	G44701500A	CEACAM16	NM_001039213.4(CEACAM16):c.37+7G>A	noncoding	Benign/Likely_benign
19	44703530	C	T	C44703530T	CEACAM16	NM_001039213.4(CEACAM16):c.219C>T:p.Gly73=	coding	Benign
19	44703766	T	A	T44703766A	CEACAM16	NM_001039213.4(CEACAM16):c.382+73T>A	noncoding	Benign
19	44704154	C	T	C44704154T	CEACAM16	NM_001039213.4(CEACAM16):c.519C>T:p.Val173=	coding	Benign/Likely_benign
19	44705691	A	G	A44705691G	CEACAM16	NM_001039213.4(CEACAM16):c.763A>G:p.Arg255Gly	coding	Pathogenic
19	44707570	C	T	C44707570T	CEACAM16	NM_001039213.4(CEACAM16):c.941-291C>T	noncoding	Benign
19	44707914	C	T	C44707914T	CEACAM16	NM_001039213.4(CEACAM16):c.994C>T:p.Gln332Ter	coding	Pathogenic
19	44707919	C	T	C44707919T	CEACAM16	NM_001039213.4(CEACAM16):c.999C>T:p.Asp333=	coding	Benign/Likely_benign
19	44707976	C	T	C44707976T	CEACAM16	NM_001039213.4(CEACAM16):c.1056C>T:p.Arg352=	coding	Benign/Likely_benign
19	44708009	C	T	C44708009T	CEACAM16	NM_001039213.4(CEACAM16):c.1089C>T:p.Ser363=	coding	Benign
19	44708240	A	G	A44708240G	CEACAM16	NM_001039213.4(CEACAM16):c.1267+53A>G	noncoding	Benign
19	44710429	C	T	C44710429T	CEACAM16	NM_001039213.4(CEACAM16):c.1268-67C>T	noncoding	Benign
19	44905910	C	G	C44905910G	APOE	NM_000041.4(APOE):c.-24+69C>G	coding	Benign
19	44906745	G	A	G44906745A	APOE	NM_000041.4(APOE):c.43+78G>A	noncoding	Benign
19	44909057	T	A	T44909057A	APOE	NM_000041.4(APOE):c.761T>A:p.Val254Glu	coding	Benign/Likely_benign
19	44948363	T	A	T44948363A	APOC2	NM_000483.5(APOC2):c.-13-103T>A	noncoding	Benign
19	44948390	C	G	C44948390G	APOC2	NM_000483.5(APOC2):c.-13-76C>G	noncoding	Benign
19	44948399	T	G	T44948399G	APOC2	NM_000483.5(APOC2):c.-13-67T>G	noncoding	Benign
19	44948488	C	T	C44948488T	APOC2	NM_000483.5(APOC2):c.10C>T:p.Arg4Ter	coding	Pathogenic
19	44948823	G	A	G44948823A	APOC2	NM_000483.5(APOC2):c.178G>A:p.Glu60Lys	coding	Benign/Likely_benign
19	44949014	G	T	G44949014T	APOC2	NM_000483.5(APOC2):c.216-145G>T	noncoding	Benign
19	44949078	T	C	T44949078C	APOC2	NM_000483.5(APOC2):c.216-81T>C	noncoding	Benign
19	44949217	C	T	C44949217T	APOC2	NM_000483.5(APOC2):c.274C>T:p.Gln92Ter	coding	Pathogenic
19	44973165	T	C	T44973165C	CLPTM1	NM_001294.4(CLPTM1):c.264T>C:p.Ala88=	coding	Benign
19	44990377	C	G	C44990377G	CLPTM1	NM_001294.4(CLPTM1):c.1133-18C>G	noncoding	Benign
19	45180190	T	A	T45180190A	BLOC1S3	NM_212550.5(BLOC1S3):c.*285T>A	noncoding	Benign
19	45213106	C	T	C45213106T	EXOC3L2	NM_001382422.1(EXOC3L2):c.2372G>A:p.Arg791Gln	coding	Benign
19	45213131	T	C	T45213131C	EXOC3L2	NM_001382422.1(EXOC3L2):c.2347A>G:p.Ser783Gly	coding	Benign
19	45216168	G	A	G45216168A	EXOC3L2	NM_001382422.1(EXOC3L2):c.2025C>T:p.Ala675=	coding	Benign
19	45216205	G	C	G45216205C	EXOC3L2	NM_001382422.1(EXOC3L2):c.1999-11C>G	noncoding	Benign
19	45218338	G	A	G45218338A	EXOC3L2	NM_001382422.1(EXOC3L2):c.1720-19C>T	noncoding	Benign
19	45224801	T	C	T45224801C	EXOC3L2	NM_001382422.1(EXOC3L2):c.1696A>G:p.Asn566Asp	coding	Benign
19	45224865	C	T	C45224865T	EXOC3L2	NM_001382422.1(EXOC3L2):c.1632G>A:p.Pro544=	coding	Benign
19	45228081	G	C	G45228081C	EXOC3L2	NM_001382422.1(EXOC3L2):c.1372-7C>G	noncoding	Benign
19	45228090	C	T	C45228090T	EXOC3L2	NM_001382422.1(EXOC3L2):c.1372-16G>A	noncoding	Benign
19	45228235	A	T	A45228235T	EXOC3L2	NM_001382422.1(EXOC3L2):c.1301T>A:p.Leu434Gln	coding	Pathogenic
19	45228257	G	T	G45228257T	EXOC3L2	NM_001382422.1(EXOC3L2):c.1279C>A:p.Arg427=	coding	Benign
19	45228273	T	C	T45228273C	EXOC3L2	NM_001382422.1(EXOC3L2):c.1270-7A>G	noncoding	Benign
19	45351722	C	T	C45351722T	ERCC2	NM_000400.4(ERCC2):c.2191-1G>A	coding	Pathogenic
19	45351802	C	G	C45351802G	ERCC2	NM_000400.4(ERCC2):c.2191-81G>C	noncoding	Benign
19	45352004	G	T	G45352004T	ERCC2	NM_000400.4(ERCC2):c.2190+205C>A	noncoding	Benign
19	45352060	A	G	A45352060G	ERCC2	NM_000400.4(ERCC2):c.2190+149T>C	noncoding	Benign
19	45352189	G	A	G45352189A	ERCC2	NM_000400.4(ERCC2):c.2190+20C>T	noncoding	Benign
19	45352555	C	T	C45352555T	ERCC2	NM_000400.4(ERCC2):c.1997G>A:p.Arg666Gln	coding	Pathogenic
19	45352556	G	A	G45352556A	ERCC2	NM_000400.4(ERCC2):c.1996C>T:p.Arg666Trp	coding	Pathogenic
19	45352568	G	A	G45352568A	ERCC2	NM_000400.4(ERCC2):c.1984C>T:p.Gln662Ter	coding	Pathogenic
19	45352635	G	T	G45352635T	ERCC2	NM_000400.4(ERCC2):c.1917C>A:p.Tyr639Ter	coding	Pathogenic
19	45352842	G	A	G45352842A	ERCC2	NM_000400.4(ERCC2):c.1832-26C>T	noncoding	Benign
19	45352886	G	A	G45352886A	ERCC2	NM_000400.4(ERCC2):c.1832-70C>T	noncoding	Benign
19	45353022	G	A	G45353022A	ERCC2	NM_000400.4(ERCC2):c.1831+61C>T	noncoding	Benign
19	45353157	T	C	T45353157C	ERCC2	NM_000400.4(ERCC2):c.1759-2A>G	noncoding	Pathogenic
19	45353316	G	A	G45353316A	ERCC2	NM_000400.4(ERCC2):c.1684C>T:p.Gln562Ter	coding	Pathogenic
19	45354562	G	A	G45354562A	ERCC2	NM_000400.4(ERCC2):c.1665+168C>T	noncoding	Benign
19	45354609	A	G	A45354609G	ERCC2	NM_000400.4(ERCC2):c.1665+121T>C	noncoding	Benign
19	45354987	C	T	C45354987T	ERCC2	NM_000400.4(ERCC2):c.1544-136G>A	noncoding	Benign
19	45354988	G	A	G45354988A	ERCC2	NM_000400.4(ERCC2):c.1544-137C>T	noncoding	Benign
19	45356944	T	G	T45356944G	ERCC2	NM_000400.4(ERCC2):c.1479+326A>C	noncoding	Benign
19	45357497	G	A	G45357497A	ERCC2	NM_000400.4(ERCC2):c.1354C>T:p.Gln452Ter	coding	Pathogenic
19	45358583	C	G	C45358583G	ERCC2	NM_000400.4(ERCC2):c.1238-884G>C	noncoding	Benign
19	45358764	T	C	T45358764C	ERCC2	NM_000400.4(ERCC2):c.1238-1065A>G	coding	Benign
19	45358936	A	G	A45358936G	ERCC2	NM_000400.4(ERCC2):c.1238-1237T>C	noncoding	Benign
19	45359191	A	G	A45359191G	ERCC2	NM_000400.4(ERCC2):c.1238-1492T>C	noncoding	Benign
19	45361231	G	A	G45361231A	ERCC2	NM_000400.4(ERCC2):c.1237+293C>T	noncoding	Benign
19	45361661	G	A	G45361661A	ERCC2	NM_000400.4(ERCC2):c.1119-19C>T	noncoding	Benign
19	45361744	C	A	C45361744A	ERCC2	NM_000400.4(ERCC2):c.1119-102G>T	noncoding	Benign
19	45361758	G	C	G45361758C	ERCC2	NM_000400.4(ERCC2):c.1119-116C>G	noncoding	Benign
19	45361788	A	C	A45361788C	ERCC2	NM_000400.4(ERCC2):c.1119-146T>G	noncoding	Benign
19	45363836	C	T	C45363836T	ERCC2	NM_000400.4(ERCC2):c.1025G>A:p.Trp342Ter	coding	Pathogenic
19	45363981	C	T	C45363981T	ERCC2	NM_000400.4(ERCC2):c.949+5G>A	noncoding	Pathogenic
19	45364037	C	A	C45364037A	ERCC2	NM_000400.4(ERCC2):c.898G>T:p.Glu300Ter	coding	Pathogenic
19	45364115	T	A	T45364115A	ERCC2	NM_000400.4(ERCC2):c.820A>T:p.Lys274Ter	coding	Pathogenic
19	45364566	G	C	G45364566C	ERCC2	NM_000400.4(ERCC2):c.595-19C>G	noncoding	Benign
19	45364748	A	T	A45364748T	ERCC2	NM_000400.4(ERCC2):c.594+90T>A	noncoding	Benign
19	45365220	T	A	T45365220A	ERCC2	NM_000400.4(ERCC2):c.361-62A>T	noncoding	Benign
19	45368348	T	C	T45368348C	ERCC2	NM_000400.4(ERCC2):c.360+282A>G	noncoding	Benign
19	45368886	T	C	T45368886C	ERCC2	NM_000400.4(ERCC2):c.246+44A>G	noncoding	Benign
19	45369114	C	T	C45369114T	ERCC2	NM_000400.4(ERCC2):c.139G>A:p.Gly47Arg	coding	Pathogenic
19	45370684	G	C	G45370684C	ERCC2	Single_allele	noncoding	Benign
19	45380010	A	G	A45380010G	PPP1R13L	NM_006663.4(PPP1R13L):c.*180T>C	noncoding	Benign
19	45380296	C	T	C45380296T	PPP1R13L	NM_006663.4(PPP1R13L):c.2449-68G>A	noncoding	Benign
19	45382459	T	C	T45382459C	PPP1R13L	NM_006663.4(PPP1R13L):c.2448+68A>G	noncoding	Benign
19	45391868	T	C	T45391868C	PPP1R13L	NM_006663.4(PPP1R13L):c.1815+12A>G	noncoding	Benign
19	45392430	A	T	A45392430T	PPP1R13L	NM_006663.4(PPP1R13L):c.1355-90T>A	noncoding	Benign
19	45396677	G	A	G45396677A	PPP1R13L	NM_006663.4(PPP1R13L):c.580C>T:p.Gln194Ter	coding	Pathogenic
19	45397811	C	T	C45397811T	PPP1R13L	NM_006663.4(PPP1R13L):c.198+194G>A	noncoding	Benign
19	45398450	C	T	C45398450T	PPP1R13L	NM_006663.4(PPP1R13L):c.-21-111G>A	noncoding	Benign
19	45408744	A	C	A45408744C	ERCC1;POLR1G	NM_001983.4(ERCC1):c.*931T>G	coding	Benign
19	45409085	A	G	A45409085G	ERCC1	NM_001983.4(ERCC1):c.*590T>C	coding	Benign
19	45409478	C	A	C45409478A	ERCC1;POLR1G	NM_012099.3(POLR1G):c.1510C>A:p.Gln504Lys	coding	Benign
19	45416697	G	C	G45416697C	ERCC1	NM_001983.4(ERCC1):c.602+124C>G	noncoding	Benign
19	45419065	G	T	G45419065T	ERCC1	NM_001983.4(ERCC1):c.525+33C>A	noncoding	Benign
19	45420238	T	C	T45420238C	ERCC1	NM_001983.4(ERCC1):c.425+86A>G	noncoding	Benign
19	45420289	C	G	C45420289G	ERCC1	NM_001983.4(ERCC1):c.425+35G>C	noncoding	Benign
19	45420395	A	G	A45420395G	ERCC1	NM_001983.4(ERCC1):c.354T>C:p.Asn118=	coding	Benign
19	45420701	C	A	C45420701A	ERCC1	NM_001983.4(ERCC1):c.322-274G>T	noncoding	Benign
19	45421104	G	C	G45421104C	ERCC1	NM_001983.4(ERCC1):c.321+74C>G	noncoding	Benign
19	45421274	C	T	C45421274T	ERCC1	NM_001983.4(ERCC1):c.225G>A:p.Thr75=	coding	Benign/Likely_benign
19	45421378	G	A	G45421378A	ERCC1	NM_001983.4(ERCC1):c.121C>T:p.Arg41Ter	coding	Pathogenic
19	45423517	T	C	T45423517C	ERCC1	NM_001983.4(ERCC1):c.-7-136A>G	noncoding	Benign
19	45423658	C	A	C45423658A	ERCC1	NM_001983.4(ERCC1):c.-8+123G>T	noncoding	Benign
19	45423878	G	A	G45423878A	ERCC1	NM_001983.4(ERCC1):c.-105C>T	noncoding	Benign
19	45423900	A	G	A45423900G	ERCC1	NM_001983.4(ERCC1):c.-127T>C	noncoding	Benign
19	45488817	A	G	A45488817G	RTN2	NM_005619.5(RTN2):c.1380+31T>C	noncoding	Benign
19	45489334	G	A	G45489334A	RTN2	NM_005619.5(RTN2):c.1241+12C>T	noncoding	Benign/Likely_benign
19	45489420	G	T	G45489420T	RTN2	NM_005619.5(RTN2):c.1167C>A:p.Cys389Ter	coding	Pathogenic
19	45489483	G	A	G45489483A	RTN2	NM_005619.5(RTN2):c.1104C>T:p.Leu368=	coding	Benign
19	45494089	T	C	T45494089C	RTN2	NM_005619.5(RTN2):c.814+77A>G	noncoding	Benign
19	45494428	G	A	G45494428A	RTN2	NM_005619.5(RTN2):c.560-8C>T	noncoding	Benign
19	45494937	C	A	C45494937A	RTN2	NM_005619.5(RTN2):c.148G>T:p.Glu50Ter	coding	Pathogenic
19	45497146	C	T	C45497146T	RTN2	Single_allele	noncoding	Benign
19	45497235	A	G	A45497235G	RTN2	Single_allele	noncoding	Benign
19	45528866	T	C	T45528866C	OPA3	NM_001017989.3(OPA3):c.*190A>G	noncoding	Benign
19	45529113	G	A	G45529113A	OPA3	NM_001017989.3(OPA3):c.486C>T:p.His162_Leu163=	coding	Benign/Likely_benign
19	45529583	G	C	G45529583C	OPA3	NM_001017989.3(OPA3):c.143-127C>G	noncoding	Benign
19	45546154	G	T	G45546154T	OPA3	NM_001017989.3(OPA3):c.143-16698C>A	noncoding	Benign
19	45546213	A	G	A45546213G	OPA3	NM_001017989.3(OPA3):c.143-16757T>C	noncoding	Benign
19	45550818	G	C	G45550818C	OPA3	NM_025136.4(OPA3):c.*2696C>G	coding	Benign/Likely_benign
19	45584554	C	G	C45584554G	OPA3	NM_025136.4(OPA3):c.142+69G>C	noncoding	Benign
19	45584713	G	A	G45584713A	OPA3	NM_025136.4(OPA3):c.52C>T:p.Gln18Ter	coding	Pathogenic
19	45585093	A	T	A45585093T	OPA3	Single_allele	noncoding	Benign
19	45765170	G	A	G45765170A	SIX5	NM_175875.5(SIX5):c.*331C>T	noncoding	Benign
19	45765195	C	T	C45765195T	SIX5	NM_175875.5(SIX5):c.*306G>A	noncoding	Benign
19	45765456	C	T	C45765456T	SIX5	NM_175875.5(SIX5):c.*45G>A	noncoding	Benign
19	45765548	G	A	G45765548A	SIX5	NM_175875.5(SIX5):c.2173C>T:p.Leu725=	coding	Benign/Likely_benign
19	45765743	C	T	C45765743T	SIX5	NM_175875.5(SIX5):c.1978G>A:p.Ala660Thr	coding	Benign
19	45765948	C	A	C45765948A	SIX5	NM_175875.5(SIX5):c.1773G>T:p.Thr591=	coding	Benign
19	45766055	G	C	G45766055C	SIX5	NM_175875.5(SIX5):c.1666C>G:p.Leu556Val	coding	Benign
19	45766070	C	T	C45766070T	SIX5	NM_175875.5(SIX5):c.1651G>A:p.Val551Met	coding	Benign
19	45766287	C	G	C45766287G	SIX5	NM_175875.5(SIX5):c.1609+63G>C	noncoding	Benign
19	45766320	C	T	C45766320T	SIX5	NM_175875.5(SIX5):c.1609+30G>A	noncoding	Benign
19	45766336	G	A	G45766336A	SIX5	NM_175875.5(SIX5):c.1609+14C>T	noncoding	Benign
19	45767382	C	T	C45767382T	SIX5	NM_175875.5(SIX5):c.804-227G>A	noncoding	Benign
19	45767919	G	T	G45767919T	SIX5	NM_175875.5(SIX5):c.803+123C>A	noncoding	Benign
19	45768352	G	A	G45768352A	SIX5	NM_175875.5(SIX5):c.493C>T:p.Leu165=	coding	Benign/Likely_benign
19	45768887	C	T	C45768887T	SIX5	NM_175875.5(SIX5):c.-43G>A	noncoding	Benign
19	45768903	C	T	C45768903T	SIX5	NM_175875.5(SIX5):c.-59G>A	noncoding	Benign
19	45768992	G	A	G45768992A	SIX5	NM_175875.5(SIX5):c.-148C>T	noncoding	Benign
19	45884086	G	A	G45884086A	IRF2BP1	NM_015649.3(IRF2BP1):c.1689C>T:p.Phe563=	coding	Benign
19	45884245	T	C	T45884245C	IRF2BP1	NM_015649.3(IRF2BP1):c.1530A>G:p.Leu510=	coding	Benign
19	45940481	T	G	T45940481G	NOVA2	NM_002516.4(NOVA2):c.861A>C:p.Ala287=	coding	Benign
19	45940628	C	A	C45940628A	NOVA2	NM_002516.4(NOVA2):c.714G>T:p.Leu238=	coding	Benign
19	46411356	G	A	G46411356A	CCDC8	NM_032040.5(CCDC8):c.1455C>T:p.Arg485=	coding	Benign
19	46411356	G	C	G46411356C	CCDC8	NM_032040.5(CCDC8):c.1455C>G:p.Arg485=	coding	Benign
19	46411664	G	A	G46411664A	CCDC8	NM_032040.5(CCDC8):c.1147C>T:p.His383Tyr	coding	Benign
19	46411834	T	C	T46411834C	CCDC8	NM_032040.5(CCDC8):c.977A>G:p.Asp326Gly	coding	Benign
19	46411925	C	T	C46411925T	CCDC8	NM_032040.5(CCDC8):c.886G>A:p.Gly296Arg	coding	Benign
19	46412029	G	T	G46412029T	CCDC8	NM_032040.5(CCDC8):c.782C>A:p.Ser261Tyr	coding	Benign
19	46412445	C	T	C46412445T	CCDC8	NM_032040.5(CCDC8):c.366G>A:p.Arg122=	coding	Benign
19	46412517	G	T	G46412517T	CCDC8	NM_032040.5(CCDC8):c.294C>A:p.Asp98Glu	coding	Benign
19	46412982	C	T	C46412982T	CCDC8	NM_032040.5(CCDC8):c.-172G>A	noncoding	Benign
19	46413718	G	C	G46413718C	CCDC8	Single_allele	noncoding	Benign
19	46601278	T	A	T46601278A	CALM3	NM_005184.3(CALM3):c.-157T>A	noncoding	Benign
19	46605894	G	C	G46605894C	CALM3	NM_005184.4(CALM3):c.34+37G>C	noncoding	Benign
19	46608183	C	G	C46608183G	CALM3	NM_005184.4(CALM3):c.35-14C>G	noncoding	Benign
19	46608358	C	T	C46608358T	CALM3	NM_005184.4(CALM3):c.178+18C>T	noncoding	Benign/Likely_benign
19	46608359	G	A	G46608359A	CALM3	NM_005184.4(CALM3):c.178+19G>A	noncoding	Benign
19	46608552	G	A	G46608552A	CALM3	NM_005184.4(CALM3):c.249G>A:p.Glu83=	coding	Benign
19	46608950	C	G	C46608950G	CALM3	NM_005184.4(CALM3):c.390C>G:p.Asp130Glu	coding	Pathogenic
19	46609391	T	C	T46609391C	CALM3	NM_005184.4(CALM3):c.*238T>C	noncoding	Benign
19	46704397	G	A	G46704397A	PRKD2	NM_016457.5(PRKD2):c.667-6C>T	noncoding	Benign
19	46746021	G	A	G46746021A	FKRP	NM_013403.3(STRN4):c.282+128C>T	noncoding	Benign
19	46746039	G	C	G46746039C	FKRP	NM_013403.3(STRN4):c.282+110C>G	noncoding	Benign
19	46755601	G	T	G46755601T	FKRP	NM_024301.5(FKRP):c.151G>T:p.Val51Phe	coding	Pathogenic
19	46755679	C	T	C46755679T	FKRP	NM_024301.5(FKRP):c.229C>T:p.Gln77Ter	coding	Pathogenic/Likely_pathogenic
19	46755976	C	T	C46755976T	FKRP	NM_024301.5(FKRP):c.526C>T:p.Arg176Ter	coding	Pathogenic/Likely_pathogenic
19	46756228	G	T	G46756228T	FKRP	NM_024301.5(FKRP):c.778G>T:p.Glu260Ter	coding	Pathogenic/Likely_pathogenic
19	46756342	G	T	G46756342T	FKRP	NM_024301.5(FKRP):c.892G>T:p.Gly298Ter	coding	Pathogenic
19	46756389	G	A	G46756389A	FKRP	NM_024301.5(FKRP):c.939G>A:p.Trp313Ter	coding	Pathogenic
19	46756703	G	A	G46756703A	FKRP	NM_024301.5(FKRP):c.1253G>A:p.Trp418Ter	coding	Pathogenic
19	46784148	T	C	T46784148C	SLC1A5	NM_005628.3(SLC1A5):c.610-4A>G	noncoding	Benign
19	46838237	G	A	G46838237A	AP2S1	NM_004069.6(AP2S1):c.*210C>T	noncoding	Benign
19	46838982	A	T	A46838982T	AP2S1	NM_004069.6(AP2S1):c.268-183T>A	noncoding	Benign
19	46839063	G	C	G46839063C	AP2S1	NM_004069.6(AP2S1):c.268-264C>G	noncoding	Benign
19	46839471	G	A	G46839471A	AP2S1	NM_004069.6(AP2S1):c.261C>T:p.Phe87=	coding	Benign
19	46839610	A	C	A46839610C	AP2S1	NM_004069.6(AP2S1):c.154-32T>G	coding	Benign
19	46839672	G	A	G46839672A	AP2S1	NM_004069.6(AP2S1):c.154-94C>T	noncoding	Benign
19	46839822	C	A	C46839822A	AP2S1	NM_004069.6(AP2S1):c.154-244G>T	noncoding	Benign
19	46846035	G	A	G46846035A	AP2S1	NM_004069.6(AP2S1):c.111C>T:p.Ala37=	coding	Benign
19	46920524	C	T	C46920524T	ARHGAP35	NM_004491.5(ARHGAP35):c.1849C>T:p.Arg617Ter	coding	Pathogenic
19	47375943	G	C	G47375943C	DHX34	NM_014681.6(DHX34):c.2327G>C:p.Arg776Pro	coding	Pathogenic
19	47430471	A	G	A47430471G	SLC8A2	NM_015063.3(SLC8A2):c.2390-6T>C	noncoding	Benign
19	47475414	G	A	G47475414A	KPTN	NM_007059.4(KPTN):c.*2C>T	noncoding	Benign
19	47475545	C	T	C47475545T	KPTN	NM_007059.4(KPTN):c.1183-1G>A	coding	Pathogenic
19	47476728	G	A	G47476728A	KPTN	NM_007059.4(KPTN):c.1000-14C>T	noncoding	Benign
19	47476896	G	A	G47476896A	KPTN	NM_007059.4(KPTN):c.906C>T:p.Pro302=	coding	Benign
19	47477795	A	G	A47477795G	KPTN	NM_007059.4(KPTN):c.788-14T>C	noncoding	Benign
19	47479954	G	A	G47479954A	KPTN	NM_007059.4(KPTN):c.710-14C>T	noncoding	Benign
19	47479959	T	G	T47479959G	KPTN	NM_007059.4(KPTN):c.710-19A>C	noncoding	Benign
19	47480759	C	T	C47480759T	KPTN	NM_007059.4(KPTN):c.599+1G>A	noncoding	Pathogenic
19	47480945	C	T	C47480945T	KPTN	NM_007059.4(KPTN):c.525+13G>A	noncoding	Benign
19	47483667	A	G	A47483667G	KPTN	NM_007059.4(KPTN):c.227-83T>C	noncoding	Benign
19	47679311	C	T	C47679311T	BICRA	NM_001394372.1(BICRA):c.151-10C>T	noncoding	Benign
19	47679362	G	C	G47679362C	BICRA	NM_001394372.1(BICRA):c.192G>C:p.Glu64Asp	coding	Pathogenic
19	47679530	C	T	C47679530T	BICRA	NM_001394372.1(BICRA):c.360C>T:p.Ala120=	coding	Benign
19	47679689	T	C	T47679689C	BICRA	NM_001394372.1(BICRA):c.519T>C:p.Pro173=	coding	Benign
19	47679705	C	T	C47679705T	BICRA	NM_001394372.1(BICRA):c.535C>T:p.Gln179Ter	coding	Pathogenic
19	47679857	A	G	A47679857G	BICRA	NM_001394372.1(BICRA):c.687A>G:p.Thr229=	coding	Benign
19	47680250	G	A	G47680250A	BICRA	NM_001394372.1(BICRA):c.1080G>A:p.Pro360_Pro361=	coding	Benign
19	47680877	G	C	G47680877C	BICRA	NM_001394372.1(BICRA):c.1707G>C:p.Gln569His	coding	Benign
19	47681163	C	T	C47681163T	BICRA	NM_001394372.1(BICRA):c.1993C>T:p.Gln665Ter	coding	Pathogenic
19	47681217	C	T	C47681217T	BICRA	NM_001394372.1(BICRA):c.2047C>T:p.Pro683Ser	coding	Benign
19	47681290	G	A	G47681290A	BICRA	NM_001394372.1(BICRA):c.2106+14G>A	noncoding	Benign
19	47696513	G	A	G47696513A	BICRA	NM_001394372.1(BICRA):c.3248+1G>A	coding	Pathogenic
19	47702099	C	T	C47702099T	BICRA	NM_001394372.1(BICRA):c.4367C>T:p.Ala1456Val	coding	Benign
19	47702391	C	A	C47702391A	BICRA	NM_001394372.1(BICRA):c.4659C>A:p.Leu1553_Gly1554=	coding	Benign
19	47834259	T	C	T47834259C	CRX	NM_000554.6(CRX):c.-35-150T>C	noncoding	Benign
19	47834289	A	G	A47834289G	CRX	NM_000554.6(CRX):c.-35-120A>G	noncoding	Benign
19	47834640	G	A	G47834640A	CRX	NM_000554.6(CRX):c.100+97G>A	noncoding	Benign
19	47836043	T	C	T47836043C	CRX	NM_000554.6(CRX):c.101-200T>C	noncoding	Benign
19	47836096	A	G	A47836096G	CRX	NM_000554.6(CRX):c.101-147A>G	noncoding	Benign
19	47836260	C	T	C47836260T	CRX	NM_000554.6(CRX):c.118C>T:p.Arg40Trp	coding	Pathogenic/Likely_pathogenic
19	47836261	G	A	G47836261A	CRX	NM_000554.6(CRX):c.119G>A:p.Arg40Gln	coding	Pathogenic
19	47836269	C	T	C47836269T	CRX	NM_000554.6(CRX):c.127C>T:p.Arg43Cys	coding	Pathogenic
19	47836270	G	A	G47836270A	CRX	NM_000554.6(CRX):c.128G>A:p.Arg43His	coding	Pathogenic/Likely_pathogenic
19	47836597	T	A	T47836597A	CRX	NM_000554.6(CRX):c.252+203T>A	noncoding	Benign
19	47839038	G	A	G47839038A	CRX	NM_000554.6(CRX):c.253-282G>A	noncoding	Benign
19	47839078	C	T	C47839078T	CRX	NM_000554.6(CRX):c.253-242C>T	noncoding	Benign
19	47839085	C	T	C47839085T	CRX	NM_000554.6(CRX):c.253-235C>T	noncoding	Benign
19	47839107	G	C	G47839107C	CRX	NM_000554.6(CRX):c.253-213G>C	noncoding	Benign
19	47839612	C	G	C47839612G	CRX	NM_000554.6(CRX):c.545C>G:p.Ser182Ter	coding	Pathogenic
19	47839712	C	T	C47839712T	CRX	NM_000554.6(CRX):c.645C>T:p.Phe215=	coding	Benign
19	48115709	T	C	T48115709C	LIG1	NM_000234.3(LIG1):c.2700A>G:p.Gln900=	coding	Benign
19	48115897	C	T	C48115897T	LIG1	NM_000234.3(LIG1):c.2652G>A:p.Pro884=	coding	Benign
19	48115975	C	T	C48115975T	LIG1	NM_000234.3(LIG1):c.2584-10G>A	noncoding	Benign
19	48119118	C	T	C48119118T	LIG1	NM_000234.3(LIG1):c.2439+19G>A	noncoding	Benign
19	48119125	G	A	G48119125A	LIG1	NM_000234.3(LIG1):c.2439+12C>T	noncoding	Benign
19	48121212	G	A	G48121212A	LIG1	NM_000234.3(LIG1):c.2343C>T:p.Ala781=	coding	Benign
19	48121337	G	A	G48121337A	LIG1	NM_000234.3(LIG1):c.2233-15C>T	noncoding	Benign
19	48122924	C	T	C48122924T	LIG1	NM_000234.3(LIG1):c.2232+10G>A	noncoding	Benign
19	48122961	G	A	G48122961A	LIG1	NM_000234.3(LIG1):c.2205C>T:p.Ile735=	coding	Benign
19	48122979	A	G	A48122979G	LIG1	NM_000234.3(LIG1):c.2187T>C:p.Val729=	coding	Benign
19	48127366	G	A	G48127366A	LIG1	NM_000234.3(LIG1):c.1933-18C>T	noncoding	Benign
19	48127920	C	A	C48127920A	LIG1	NM_000234.3(LIG1):c.1922G>T:p.Arg641Leu	coding	Pathogenic
19	48127976	G	A	G48127976A	LIG1	NM_000234.3(LIG1):c.1866C>T:p.Ala622=	coding	Benign
19	48128001	G	A	G48128001A	LIG1	NM_000234.3(LIG1):c.1841C>T:p.Thr614Ile	coding	Benign
19	48131059	G	C	G48131059C	LIG1	NM_000234.3(LIG1):c.1821+17C>G	noncoding	Benign
19	48131079	G	A	G48131079A	LIG1	NM_000234.3(LIG1):c.1818C>T:p.Pro606=	coding	Benign
19	48131179	G	A	G48131179A	LIG1	NM_000234.3(LIG1):c.1726-8C>T	noncoding	Benign
19	48133011	C	T	C48133011T	LIG1	NM_000234.3(LIG1):c.1696G>A:p.Glu566Lys	coding	Pathogenic
19	48135668	C	T	C48135668T	LIG1	NM_000234.3(LIG1):c.1523+12G>A	noncoding	Benign
19	48135765	T	C	T48135765C	LIG1	NM_000234.3(LIG1):c.1438A>G:p.Met480Val	coding	Benign
19	48137049	G	C	G48137049C	LIG1	NM_000234.3(LIG1):c.1290C>G:p.Leu430=	coding	Benign
19	48137550	C	T	C48137550T	LIG1	NM_000234.3(LIG1):c.1226G>A:p.Arg409His	coding	Benign
19	48137671	C	T	C48137671T	LIG1	NM_000234.3(LIG1):c.1105G>A:p.Val369Ile	coding	Benign
19	48140013	C	T	C48140013T	LIG1	NM_000234.3(LIG1):c.1045G>A:p.Val349Met	coding	Benign
19	48140104	G	A	G48140104A	LIG1	NM_000234.3(LIG1):c.954C>T:p.Ser318=	coding	Benign/Likely_benign
19	48143528	G	T	G48143528T	LIG1	NM_000234.3(LIG1):c.914+15C>A	noncoding	Benign
19	48143940	T	C	T48143940C	LIG1	NM_000234.3(LIG1):c.800A>G:p.Asn267Ser	coding	Benign
19	48143968	G	A	G48143968A	LIG1	NM_000234.3(LIG1):c.777-5C>T	noncoding	Benign
19	48149793	C	T	C48149793T	LIG1	NM_000234.3(LIG1):c.746G>A:p.Gly249Glu	coding	Benign
19	48150104	C	T	C48150104T	LIG1	NM_000234.3(LIG1):c.681G>A:p.Thr227=	coding	Benign
19	48151357	G	A	G48151357A	LIG1	NM_000234.3(LIG1):c.467-18C>T	noncoding	Benign
19	48157007	T	C	T48157007C	LIG1	NM_000234.3(LIG1):c.370+7A>G	noncoding	Benign
19	48161512	A	G	A48161512G	LIG1	NM_000234.3(LIG1):c.108-5T>C	noncoding	Benign
19	48161516	T	C	T48161516C	LIG1	NM_000234.3(LIG1):c.108-9A>G	noncoding	Benign
19	48211779	G	A	G48211779A	CARD8	NM_001184900.3(CARD8):c.1545C>T:p.Asp515=	coding	Benign
19	48211896	T	C	T48211896C	CARD8	NM_001184900.3(CARD8):c.1428A>G:p.Gln476=	coding	Benign
19	48211939	T	C	T48211939C	CARD8	NM_001184900.3(CARD8):c.1385A>G:p.Gln462Arg	coding	Benign
19	48218857	G	A	G48218857A	CARD8	NM_001184900.3(CARD8):c.1303+14C>T	noncoding	Benign
19	48218923	C	T	C48218923T	CARD8	NM_001184900.3(CARD8):c.1251G>A:p.Glu417=	coding	Benign
19	48218947	C	T	C48218947T	CARD8	NM_001184900.3(CARD8):c.1227G>A:p.Gln409=	coding	Benign
19	48219030	G	A	G48219030A	CARD8	NM_001184900.3(CARD8):c.1162-18C>T	noncoding	Benign
19	48221781	A	G	A48221781G	CARD8	NM_001184900.3(CARD8):c.1110T>C:p.Phe370=	coding	Benign
19	48221825	C	G	C48221825G	CARD8	NM_001184900.3(CARD8):c.1066G>C:p.Gly356Arg	coding	Benign
19	48230422	A	C	A48230422C	CARD8	NM_001184900.3(CARD8):c.1035+16T>G	noncoding	Benign
19	48230492	G	A	G48230492A	CARD8	NM_001184900.3(CARD8):c.981C>T:p.Pro327=	coding	Benign
19	48230499	G	C	G48230499C	CARD8	NM_001184900.3(CARD8):c.974C>G:p.Pro325Arg	coding	Benign
19	48230606	A	G	A48230606G	CARD8	NM_001184900.3(CARD8):c.867T>C:p.Ala289=	coding	Benign
19	48230761	G	A	G48230761A	CARD8	NM_001184900.3(CARD8):c.772+16C>T	noncoding	Benign
19	48230938	T	G	T48230938G	CARD8	NM_001184900.3(CARD8):c.611A>C:p.Glu204Ala	coding	Benign
19	48231685	T	C	T48231685C	CARD8	NM_001184900.3(CARD8):c.517A>G:p.Ile173Val	coding	Benign
19	48234385	C	T	C48234385T	CARD8	NM_001184900.3(CARD8):c.350+18G>A	noncoding	Benign
19	48234449	A	T	A48234449T	CARD8	NM_001184900.3(CARD8):c.304T>A:p.Phe102Ile	coding	Benign
19	48234493	T	G	T48234493G	CARD8	NM_001184900.3(CARD8):c.260A>C:p.His87Pro	coding	Benign
19	48234507	A	G	A48234507G	CARD8	NM_001184900.3(CARD8):c.246T>C:p.Leu82=	coding	Benign
19	48234555	C	G	C48234555G	CARD8	NM_001184900.3(CARD8):c.210-12G>C	noncoding	Benign
19	48296734	C	T	C48296734T	ODAD1	NM_001364171.2(ODAD1):c.*242G>A	noncoding	Benign
19	48297573	G	A	G48297573A	ODAD1	NM_001364171.2(ODAD1):c.1581+17C>T	noncoding	Benign
19	48297790	T	C	T48297790C	ODAD1	NM_001364171.2(ODAD1):c.1503-122A>G	noncoding	Benign
19	48297961	G	A	G48297961A	ODAD1	NM_001364171.2(ODAD1):c.1502+39C>T	noncoding	Benign
19	48303363	C	T	C48303363T	ODAD1	NM_001364171.2(ODAD1):c.989-268G>A	noncoding	Benign
19	48303609	G	A	G48303609A	ODAD1	NM_001364171.2(ODAD1):c.988+41C>T	noncoding	Benign
19	48304064	G	A	G48304064A	ODAD1	NM_001364171.2(ODAD1):c.742C>T:p.Gln248Ter	coding	Pathogenic
19	48311215	C	A	C48311215A	ODAD1	NM_001364171.2(ODAD1):c.597+338G>T	noncoding	Benign
19	48311480	G	A	G48311480A	ODAD1	NM_001364171.2(ODAD1):c.597+73C>T	noncoding	Benign
19	48312029	G	A	G48312029A	ODAD1	NM_001364171.2(ODAD1):c.448C>T:p.Arg150Ter	coding	Pathogenic
19	48318088	G	A	G48318088A	ODAD1	NM_001364171.2(ODAD1):c.360+299C>T	noncoding	Benign
19	48318389	G	A	G48318389A	ODAD1	NM_001364171.2(ODAD1):c.358C>T:p.Gln120Ter	coding	Pathogenic
19	48318639	C	A	C48318639A	ODAD1	NM_001364171.2(ODAD1):c.171-63G>T	noncoding	Benign
19	48318824	G	A	G48318824A	ODAD1	NM_001364171.2(ODAD1):c.71-12C>T	noncoding	Benign
19	48398767	C	T	C48398767T	GRIN2D	NM_000836.4(GRIN2D):c.375C>T:p.Ala125=	coding	Benign
19	48398779	C	A	C48398779A	GRIN2D	NM_000836.4(GRIN2D):c.387C>A:p.Ile129=	coding	Benign
19	48398806	G	A	G48398806A	GRIN2D	NM_000836.4(GRIN2D):c.414G>A:p.Ser138=	coding	Benign
19	48398809	G	A	G48398809A	GRIN2D	NM_000836.4(GRIN2D):c.417G>A:p.Leu139=	coding	Benign
19	48398818	G	T	G48398818T	GRIN2D	NM_000836.4(GRIN2D):c.426G>T:p.Val142=	coding	Benign
19	48404823	G	A	G48404823A	GRIN2D	NM_000836.4(GRIN2D):c.555G>A:p.Thr185=	coding	Benign
19	48405153	A	G	A48405153G	GRIN2D	NM_000836.4(GRIN2D):c.885A>G:p.Pro295=	coding	Benign
19	48414561	G	A	G48414561A	GRIN2D	NM_000836.4(GRIN2D):c.1389G>A:p.Arg463=	coding	Benign
19	48414900	C	T	C48414900T	GRIN2D	NM_000836.4(GRIN2D):c.1449C>T:p.Cys483=	coding	Benign
19	48416138	C	T	C48416138T	GRIN2D	NM_000836.4(GRIN2D):c.1718C>T:p.Ser573Phe	coding	Pathogenic
19	48416170	T	C	T48416170C	GRIN2D	NM_000836.4(GRIN2D):c.1735+15T>C	noncoding	Benign
19	48419720	C	T	C48419720T	GRIN2D	NM_000836.4(GRIN2D):c.1997C>T:p.Ala666Val	coding	Pathogenic
19	48419764	A	G	A48419764G	GRIN2D	NM_000836.4(GRIN2D):c.2041A>G:p.Met681Val	coding	Pathogenic/Likely_pathogenic
19	48421965	G	A	G48421965A	GRIN2D	NM_000836.4(GRIN2D):c.2252+20G>A	noncoding	Benign
19	48441856	C	T	C48441856T	GRIN2D	NM_000836.4(GRIN2D):c.2340C>T:p.Ser780=	coding	Benign
19	48441934	G	A	G48441934A	GRIN2D	NM_000836.4(GRIN2D):c.2418G>A:p.Ala806=	coding	Benign
19	48442623	T	C	T48442623C	GRIN2D	NM_000836.4(GRIN2D):c.2697T>C:p.Ala899=	coding	Benign
19	48443068	T	C	T48443068C	GRIN2D	NM_000836.4(GRIN2D):c.3142T>C:p.Leu1048=	coding	Benign
19	48443080	G	A	G48443080A	GRIN2D	NM_000836.4(GRIN2D):c.3154G>A:p.Asp1052Asn	coding	Benign
19	48443583	G	A	G48443583A	GRIN2D	NM_000836.4(GRIN2D):c.3657G>A:p.Leu1219=	coding	Benign
19	48443599	C	T	C48443599T	GRIN2D	NM_000836.4(GRIN2D):c.3673C>T:p.Arg1225Cys	coding	Benign
19	48443665	G	A	G48443665A	GRIN2D	NM_000836.4(GRIN2D):c.3739G>A:p.Ala1247Thr	coding	Benign
19	48443805	C	T	C48443805T	GRIN2D	NM_000836.4(GRIN2D):c.3879C>T:p.His1293=	coding	Benign
19	48443875	G	A	G48443875A	GRIN2D	NM_000836.4(GRIN2D):c.3949G>A:p.Gly1317Ser	coding	Benign
19	48451164	G	A	G48451164A	GRWD1	NM_031485.4(GRWD1):c.956G>A:p.Arg319Gln	coding	Benign
19	48575989	C	T	C48575989T	SULT2B1	NM_177973.2(SULT2B1):c.120C>T:p.Pro40=	coding	Benign
19	48591599	C	T	C48591599T	SULT2B1	NM_177973.2(SULT2B1):c.424-10C>T	noncoding	Benign
19	48592808	C	T	C48592808T	SULT2B1	NM_177973.2(SULT2B1):c.637C>T:p.Leu213=	coding	Benign
19	48596782	G	A	G48596782A	SULT2B1	NM_177973.2(SULT2B1):c.689G>A:p.Arg230His	coding	Benign
19	48599142	C	T	C48599142T	SULT2B1	NM_177973.2(SULT2B1):c.834C>T:p.Cys278=	coding	Benign
19	48599256	C	T	C48599256T	SULT2B1	NM_177973.2(SULT2B1):c.948C>T:p.Asp316=	coding	Benign
19	48599342	C	T	C48599342T	SULT2B1	NM_177973.2(SULT2B1):c.1034C>T:p.Pro345Leu	coding	Benign
19	48617177	C	T	C48617177T	RPL18	NM_000979.4(RPL18):c.198+139G>A	noncoding	Benign
19	48617517	T	G	T48617517G	RPL18	NM_000979.4(RPL18):c.91-94A>C	noncoding	Benign
19	48618050	G	A	G48618050A	RPL18	NM_000979.4(RPL18):c.4-173C>T	noncoding	Benign
19	48618991	T	C	T48618991C	RPL18	NM_000979.4(RPL18):c.3+150A>G	noncoding	Benign
19	48661483	T	C	T48661483C	NTN5	NM_145807.4(NTN5):c.*194A>G	noncoding	Benign
19	48663618	G	A	G48663618A	NTN5	NM_145807.4(NTN5):c.1025-75C>T	noncoding	Benign
19	48664104	G	A	G48664104A	NTN5	NM_145807.4(NTN5):c.970+39C>T	noncoding	Benign
19	48664521	C	A	C48664521A	NTN5	NM_145807.4(NTN5):c.820+58G>T	noncoding	Benign
19	48664522	C	T	C48664522T	NTN5	NM_145807.4(NTN5):c.820+57G>A	noncoding	Benign
19	48664529	G	A	G48664529A	NTN5	NM_145807.4(NTN5):c.820+50C>T	noncoding	Benign
19	48664748	G	A	G48664748A	NTN5	NM_145807.4(NTN5):c.651C>T:p.His217=	coding	Benign
19	48670414	C	T	C48670414T	NTN5	NM_145807.4(NTN5):c.573G>A:p.Pro191=	coding	Benign
19	48703346	C	T	C48703346T	FUT2	NM_000511.6(FUT2):c.390C>T:p.Asn130=	coding	Benign
19	48796570	C	T	C48796570T	BCAT2	NM_001190.4(BCAT2):c.1065+8G>A	noncoding	Benign
19	48797174	G	A	G48797174A	BCAT2	NM_001190.4(BCAT2):c.838+17C>T	noncoding	Benign
19	48797239	C	T	C48797239T	BCAT2	NM_001190.4(BCAT2):c.790G>A:p.Glu264Lys	coding	Pathogenic
19	48797348	T	C	T48797348C	BCAT2	NM_001190.4(BCAT2):c.696-15A>G	noncoding	Benign
19	48799813	G	C	G48799813C	BCAT2	NM_001190.4(BCAT2):c.557C>G:p.Thr186Arg	coding	Benign
19	48965095	C	A	C48965095A	FTL	Single_allele	noncoding	Benign
19	48966275	A	G	A48966275G	FTL	NM_000146.4(FTL):c.250-6A>G	noncoding	Benign/Likely_benign
19	48966943	G	A	G48966943A	FTL	Single_allele	noncoding	Benign
19	48968073	T	C	T48968073C	GYS1	Single_allele	noncoding	Benign
19	48977685	G	A	G48977685A	GYS1	NM_002103.5(GYS1):c.1308+239C>T	noncoding	Benign
19	48982321	A	C	A48982321C	GYS1	NM_002103.5(GYS1):c.996T>G:p.Tyr332Ter	coding	Pathogenic
19	48982748	G	A	G48982748A	GYS1	NM_002103.5(GYS1):c.913C>T:p.Gln305Ter	coding	Pathogenic
19	48985982	C	T	C48985982T	GYS1	NM_002103.5(GYS1):c.546G>A:p.Trp182Ter	coding	Pathogenic
19	48986160	G	A	G48986160A	GYS1	NM_002103.5(GYS1):c.493-125C>T	noncoding	Benign
19	48993529	C	T	C48993529T	GYS1	NM_006666.2(RUVBL2):c.-383C>T	noncoding	Benign
19	49015801	T	C	T49015801C	LHB	NM_006666.3(RUVBL2):c.1367-16T>C	noncoding	Benign
19	49015973	T	G	T49015973G	LHB	NM_006666.2(RUVBL2):c.*131T>G	noncoding	Benign
19	49015983	G	A	G49015983A	LHB	NM_000894.3(LHB):c.*85C>T	noncoding	Benign
19	49016209	A	G	A49016209G	LHB	NM_000894.3(LHB):c.285T>C:p.Gly95=	coding	Benign
19	49016648	A	G	A49016648G	LHB	NM_000894.3(LHB):c.82T>C:p.Trp28Arg	coding	Benign
19	49016678	C	T	C49016678T	LHB	NM_000894.3(LHB):c.52G>A:p.Ala18Thr	coding	Benign
19	49016685	C	T	C49016685T	LHB	NM_000894.3(LHB):c.45G>A:p.Met15Ile	coding	Benign/Likely_benign
19	49016819	C	T	C49016819T	LHB	NM_000894.3(LHB):c.16-105G>A	noncoding	Benign
19	49016957	T	C	T49016957C	LHB	NM_000894.3(LHB):c.15+110A>G	noncoding	Benign
19	49016960	C	T	C49016960T	LHB	NM_000894.3(LHB):c.15+107G>A	noncoding	Benign
19	49017115	A	T	A49017115T	LHB	Single_allele	noncoding	Benign
19	49017319	C	T	C49017319T	LHB	Single_allele	noncoding	Benign
19	49017349	C	G	C49017349G	LHB	Single_allele	noncoding	Benign
19	49017355	G	A	G49017355A	LHB	Single_allele	noncoding	Benign
19	49017357	C	T	C49017357T	LHB	Single_allele	noncoding	Benign
19	49061255	T	C	T49061255C	NTF4	NM_006179.5(NTF4):c.*110A>G	noncoding	Benign
19	49114449	T	C	T49114449C	LIN7B	NM_022165.3(LIN7B):c.37+8T>C	noncoding	Benign
19	49136745	G	T	G49136745T	PPFIA3	NM_003660.4(PPFIA3):c.1687G>T:p.Ala563Ser	coding	Benign
19	49154952	A	C	A49154952C	HRC	NM_002152.3(HRC):c.286T>G:p.Ser96Ala	coding	Benign
19	49158270	C	A	C49158270A	TRPM4	NM_017636.4(TRPM4):c.92+11C>A	noncoding	Benign
19	49158290	A	G	A49158290G	TRPM4	NM_017636.4(TRPM4):c.92+31A>G	noncoding	Benign
19	49158421	G	C	G49158421C	TRPM4	NM_017636.4(TRPM4):c.92+162G>C	noncoding	Benign
19	49166116	C	T	C49166116T	TRPM4	NM_017636.4(TRPM4):c.168C>T:p.Ala56=	coding	Benign/Likely_benign
19	49166191	G	A	G49166191A	TRPM4	NM_017636.4(TRPM4):c.243G>A:p.Thr81=	coding	Benign/Likely_benign
19	49166320	A	G	A49166320G	TRPM4	NM_017636.4(TRPM4):c.267+105A>G	noncoding	Benign
19	49167832	C	T	C49167832T	TRPM4	NM_017636.4(TRPM4):c.268-85C>T	noncoding	Benign
19	49167894	G	A	G49167894A	TRPM4	NM_017636.4(TRPM4):c.268-23G>A	noncoding	Benign
19	49167991	C	G	C49167991G	TRPM4	NM_017636.4(TRPM4):c.342C>G:p.Ala114=	coding	Benign/Likely_benign
19	49168548	C	T	C49168548T	TRPM4	NM_017636.4(TRPM4):c.613-5C>T	noncoding	Benign/Likely_benign
19	49171238	C	A	C49171238A	TRPM4	NM_017636.4(TRPM4):c.797-119C>A	noncoding	Benign
19	49171306	C	G	C49171306G	TRPM4	NM_017636.4(TRPM4):c.797-51C>G	noncoding	Benign
19	49171920	G	A	G49171920A	TRPM4	NM_017636.4(TRPM4):c.1051-89G>A	noncoding	Benign
19	49172085	T	C	T49172085C	TRPM4	NM_017636.4(TRPM4):c.1127T>C:p.Ile376Thr	coding	Pathogenic
19	49172123	C	G	C49172123G	TRPM4	NM_017636.4(TRPM4):c.1150+15C>G	noncoding	Benign/Likely_benign
19	49181102	A	G	A49181102G	TRPM4	NM_017636.4(TRPM4):c.1151-247A>G	noncoding	Benign
19	49181555	G	A	G49181555A	TRPM4	NM_017636.4(TRPM4):c.1263+94G>A	noncoding	Benign
19	49182237	T	C	T49182237C	TRPM4	NM_017636.4(TRPM4):c.1264-341T>C	noncoding	Benign
19	49182253	T	C	T49182253C	TRPM4	NM_017636.4(TRPM4):c.1264-325T>C	noncoding	Benign
19	49182254	G	A	G49182254A	TRPM4	NM_017636.4(TRPM4):c.1264-324G>A	noncoding	Benign
19	49182496	C	A	C49182496A	TRPM4	NM_017636.4(TRPM4):c.1264-82C>A	noncoding	Benign
19	49188335	G	T	G49188335T	TRPM4	NM_017636.4(TRPM4):c.1744-306G>T	noncoding	Benign
19	49188565	T	C	T49188565C	TRPM4	NM_017636.4(TRPM4):c.1744-76T>C	noncoding	Benign
19	49189116	C	G	C49189116G	TRPM4	NM_017636.4(TRPM4):c.2019+25C>G	noncoding	Benign
19	49189921	A	G	A49189921G	TRPM4	NM_017636.4(TRPM4):c.2020-287A>G	noncoding	Benign
19	49190567	A	G	A49190567G	TRPM4	NM_017636.4(TRPM4):c.2133-129A>G	noncoding	Benign
19	49196890	C	A	C49196890A	TRPM4	NM_017636.4(TRPM4):c.2645+16C>A	noncoding	Benign
19	49196948	A	G	A49196948G	TRPM4	NM_017636.4(TRPM4):c.2645+74A>G	noncoding	Benign
19	49200054	C	T	C49200054T	TRPM4	NM_017636.4(TRPM4):c.2646-246C>T	noncoding	Benign
19	49200144	T	C	T49200144C	TRPM4	NM_017636.4(TRPM4):c.2646-156T>C	noncoding	Benign
19	49200215	C	T	C49200215T	TRPM4	NM_017636.4(TRPM4):c.2646-85C>T	noncoding	Benign
19	49200490	G	C	G49200490C	TRPM4	NM_017636.4(TRPM4):c.2778+58G>C	noncoding	Benign
19	49200507	A	G	A49200507G	TRPM4	NM_017636.4(TRPM4):c.2778+75A>G	noncoding	Benign
19	49200596	C	G	C49200596G	TRPM4	NM_017636.4(TRPM4):c.2779-15C>G	noncoding	Benign
19	49211114	A	G	A49211114G	TRPM4	NM_017636.4(TRPM4):c.3534+27A>G	noncoding	Benign
19	49211477	T	G	T49211477G	TRPM4	NM_017636.4(TRPM4):c.3641-17T>G	noncoding	Benign/Likely_benign
19	49365794	T	G	T49365794G	DKKL1	NM_014419.4(DKKL1):c.326T>G:p.Met109Arg	coding	Benign
19	49409288	G	A	G49409288A	KASH5	NM_144688.5(KASH5):c.1146+5G>A	noncoding	Pathogenic
19	49595125	C	T	C49595125T	PRR12	NM_020719.3(PRR12):c.790C>T:p.Gln264Ter	coding	Pathogenic
19	49595166	G	A	G49595166A	PRR12	NM_020719.3(PRR12):c.831G>A:p.Pro277=	coding	Benign
19	49595266	C	T	C49595266T	PRR12	NM_020719.3(PRR12):c.931C>T:p.Gln311Ter	coding	Pathogenic
19	49595856	T	G	T49595856G	PRR12	NM_020719.3(PRR12):c.1521T>G:p.Tyr507Ter	coding	Pathogenic
19	49596165	C	T	C49596165T	PRR12	NM_020719.3(PRR12):c.1830C>T:p.Ala610=	coding	Benign
19	49597038	A	G	A49597038G	PRR12	NM_020719.3(PRR12):c.2703A>G:p.Pro901=	coding	Benign
19	49597090	C	T	C49597090T	PRR12	NM_020719.3(PRR12):c.2755C>T:p.Gln919Ter	coding	Pathogenic
19	49597227	G	A	G49597227A	PRR12	NM_020719.3(PRR12):c.2892G>A:p.Lys964=	coding	Benign
19	49598031	C	T	C49598031T	PRR12	NM_020719.3(PRR12):c.3678+18C>T	noncoding	Benign
19	49599551	C	T	C49599551T	PRR12	NM_020719.3(PRR12):c.3958C>T:p.Arg1320Ter	coding	Pathogenic
19	49621523	A	G	A49621523G	PRR12	NM_020719.3(PRR12):c.5624-2A>G	noncoding	Pathogenic/Likely_pathogenic
19	49635871	C	G	C49635871G	RRAS	NM_006270.5(RRAS):c.454-19G>C	noncoding	Benign
19	49636700	C	T	C49636700T	RRAS	NM_006270.5(RRAS):c.372G>A:p.Thr124=	coding	Benign/Likely_benign
19	49636710	T	C	T49636710C	RRAS	NM_006270.5(RRAS):c.362A>G:p.Lys121Arg	coding	Benign/Likely_benign
19	49636731	C	T	C49636731T	RRAS	NM_006270.5(RRAS):c.345-4G>A	noncoding	Benign/Likely_benign
19	49636807	C	T	C49636807T	RRAS	NM_006270.5(RRAS):c.344+17G>A	noncoding	Benign
19	49636913	C	T	C49636913T	RRAS	NM_006270.5(RRAS):c.255G>A:p.Ala85=	coding	Benign/Likely_benign
19	49636952	C	T	C49636952T	RRAS	NM_006270.5(RRAS):c.242-26G>A	noncoding	Benign
19	49636989	C	A	C49636989A	RRAS	NM_006270.5(RRAS):c.241+54G>T	noncoding	Benign
19	49637232	A	C	A49637232C	RRAS	NM_006270.5(RRAS):c.154-102T>G	noncoding	Benign
19	49637299	G	A	G49637299A	RRAS	NM_006270.5(RRAS):c.154-169C>T	noncoding	Benign
19	49637392	C	T	C49637392T	RRAS	NM_006270.5(RRAS):c.154-262G>A	noncoding	Benign
19	49677009	C	G	C49677009G	PRMT1	Single_allele	noncoding	Benign
19	49692403	G	A	G49692403A	CPT1C	NM_001199753.2(CPT1C):c.141+10G>A	noncoding	Benign
19	49700869	A	G	A49700869G	CPT1C	NM_001199753.2(CPT1C):c.453+14A>G	noncoding	Benign
19	49701586	G	A	G49701586A	CPT1C	NM_001199753.2(CPT1C):c.645G>A:p.Ser215=	coding	Benign
19	49705962	C	T	C49705962T	CPT1C	NM_001199753.2(CPT1C):c.1018C>T:p.Arg340Ter	coding	Pathogenic
19	49706396	C	T	C49706396T	CPT1C	NM_001199753.2(CPT1C):c.1326C>T:p.Ala442=	coding	Benign
19	49708814	G	T	G49708814T	CPT1C	NM_001199753.2(CPT1C):c.1541G>T:p.Arg514Leu	coding	Benign
19	49712793	C	A	C49712793A	CPT1C	NM_001199753.2(CPT1C):c.2077C>A:p.Leu693Met	coding	Benign/Likely_benign
19	49712861	T	G	T49712861G	CPT1C	NM_001199753.2(CPT1C):c.2133+12T>G	noncoding	Benign
19	49818253	C	T	C49818253T	MED25	Single_allele	noncoding	Benign
19	49818255	C	G	C49818255G	MED25	Single_allele	noncoding	Benign
19	49818724	G	C	G49818724C	MED25	NM_030973.4(MED25):c.180+108G>C	noncoding	Benign
19	49818843	A	G	A49818843G	MED25	NM_030973.4(MED25):c.180+227A>G	noncoding	Benign
19	49818854	T	C	T49818854C	MED25	NM_030973.4(MED25):c.180+238T>C	noncoding	Benign
19	49828563	A	G	A49828563G	MED25	NM_030973.4(MED25):c.404+16A>G	noncoding	Benign
19	49829965	G	A	G49829965A	MED25	NM_030973.4(MED25):c.688+17G>A	noncoding	Benign/Likely_benign
19	49831374	A	G	A49831374G	MED25	NM_030973.4(MED25):c.1143A>G:p.Pro381=	coding	Benign
19	49831609	C	T	C49831609T	MED25	NM_030973.4(MED25):c.1230+148C>T	noncoding	Benign
19	49831638	C	T	C49831638T	MED25	NM_030973.4(MED25):c.1230+177C>T	noncoding	Benign
19	49832253	T	C	T49832253C	MED25	NM_030973.4(MED25):c.1375-55T>C	noncoding	Benign
19	49832615	A	G	A49832615G	MED25	NM_030973.4(MED25):c.1482+200A>G	noncoding	Benign
19	49861447	A	T	A49861447T	PNKP	NM_007254.4(PNKP):c.1448+2T>A	noncoding	Pathogenic
19	49861496	C	T	C49861496T	PNKP	NM_007254.4(PNKP):c.1401G>A:p.Thr467=	coding	Benign/Likely_benign
19	49861507	G	A	G49861507A	PNKP	NM_007254.4(PNKP):c.1390C>T:p.Arg464Ter	coding	Pathogenic
19	49861674	G	C	G49861674C	PNKP	NM_007254.4(PNKP):c.1320C>G:p.Ala440=	coding	Benign/Likely_benign
19	49861683	A	T	A49861683T	PNKP	NM_007254.4(PNKP):c.1311T>A:p.Cys437Ter	coding	Pathogenic
19	49861697	T	C	T49861697C	PNKP	NM_007254.4(PNKP):c.1299-2A>G	noncoding	Pathogenic
19	49862213	C	T	C49862213T	PNKP	NM_007254.4(PNKP):c.1098G>A:p.Glu366=	coding	Benign/Likely_benign
19	49862245	C	A	C49862245A	PNKP	NM_007254.4(PNKP):c.1066G>T:p.Glu356Ter	coding	Pathogenic
19	49862252	G	T	G49862252T	PNKP	NM_007254.4(PNKP):c.1059C>A:p.Cys353Ter	coding	Pathogenic
19	49862522	G	C	G49862522C	PNKP	NM_007254.4(PNKP):c.936+16C>G	noncoding	Benign/Likely_benign
19	49862750	G	A	G49862750A	PNKP	NM_007254.4(PNKP):c.817-12C>T	noncoding	Benign/Likely_benign
19	49863697	G	A	G49863697A	PNKP	NM_007254.4(PNKP):c.808C>T:p.Gln270Ter	coding	Pathogenic
19	49863987	C	A	C49863987A	PNKP	NM_007254.4(PNKP):c.721G>T:p.Glu241Ter	coding	Pathogenic
19	49864098	G	A	G49864098A	PNKP	NM_007254.4(PNKP):c.637-27C>T	noncoding	Benign
19	49864236	C	T	C49864236T	PNKP	NM_007254.4(PNKP):c.579G>A:p.Arg193=	coding	Benign/Likely_benign
19	49865016	G	A	G49865016A	PNKP	NM_007254.4(PNKP):c.498+111C>T	noncoding	Benign
19	49865116	G	A	G49865116A	PNKP	NM_007254.4(PNKP):c.498+11C>T	noncoding	Benign/Likely_benign
19	49865307	C	T	C49865307T	PNKP	NM_007254.4(PNKP):c.318G>A:p.Trp106Ter	coding	Pathogenic
19	49867382	G	A	G49867382A	PNKP	NM_007254.4(PNKP):c.-14+87C>T	noncoding	Benign
19	49908485	A	G	A49908485G	NUP62	NM_016553.5(NUP62):c.1323T>C:p.Asp441_Ala442=	coding	Benign
19	49908960	C	G	C49908960G	NUP62	NM_016553.5(NUP62):c.848G>C:p.Ser283Thr	coding	Benign
19	49908980	G	A	G49908980A	NUP62	NM_016553.5(NUP62):c.828C>T:p.Thr276_Ala277=	coding	Benign
19	49909052	C	G	C49909052G	NUP62	NM_016553.5(NUP62):c.756G>C:p.Gly252_Thr253=	coding	Benign
19	49909160	G	A	G49909160A	NUP62	NM_016553.5(NUP62):c.648C>T:p.Ser216_Thr217=	coding	Benign
19	49909259	C	T	C49909259T	NUP62	NM_016553.5(NUP62):c.549G>A:p.Thr183_Ala184=	coding	Benign
19	49909393	C	T	C49909393T	NUP62	NM_016553.5(NUP62):c.415G>A:p.Gly139Ser	coding	Benign
19	50210782	C	T	C50210782T	MYH14	NM_001145809.2(MYH14):c.405+12C>T	noncoding	Benign
19	50217536	C	T	C50217536T	MYH14	NM_001145809.2(MYH14):c.406-79C>T	noncoding	Benign
19	50217538	G	A	G50217538A	MYH14	NM_001145809.2(MYH14):c.406-77G>A	noncoding	Benign
19	50217817	G	A	G50217817A	MYH14	NM_001145809.2(MYH14):c.562+46G>A	noncoding	Benign
19	50222891	C	T	C50222891T	MYH14	NM_001145809.2(MYH14):c.563-192C>T	noncoding	Benign
19	50223062	C	G	C50223062G	MYH14	NM_001145809.2(MYH14):c.563-21C>G	noncoding	Benign
19	50223066	C	A	C50223066A	MYH14	NM_001145809.2(MYH14):c.563-17C>A	noncoding	Benign
19	50223111	G	A	G50223111A	MYH14	NM_001145809.2(MYH14):c.590+1G>A	coding	Pathogenic
19	50223202	T	C	T50223202C	MYH14	NM_001145809.2(MYH14):c.591-45T>C	noncoding	Benign
19	50223460	C	T	C50223460T	MYH14	NM_001145809.2(MYH14):c.693+111C>T	noncoding	Benign
19	50223678	C	T	C50223678T	MYH14	NM_001145809.2(MYH14):c.693+329C>T	noncoding	Benign
19	50223862	G	C	G50223862C	MYH14	NM_001145809.2(MYH14):c.694-292G>C	noncoding	Benign
19	50223922	A	G	A50223922G	MYH14	NM_001145809.2(MYH14):c.694-232A>G	noncoding	Benign
19	50223930	G	A	G50223930A	MYH14	NM_001145809.2(MYH14):c.694-224G>A	noncoding	Benign
19	50224055	C	T	C50224055T	MYH14	NM_001145809.2(MYH14):c.694-99C>T	noncoding	Benign
19	50224134	G	A	G50224134A	MYH14	NM_001145809.2(MYH14):c.694-20G>A	noncoding	Benign
19	50224253	T	C	T50224253C	MYH14	NM_001145809.2(MYH14):c.717+76T>C	noncoding	Benign
19	50224411	A	G	A50224411G	MYH14	NM_001145809.2(MYH14):c.717+234A>G	noncoding	Benign
19	50224428	A	G	A50224428G	MYH14	NM_001145809.2(MYH14):c.717+251A>G	noncoding	Benign
19	50225299	C	T	C50225299T	MYH14	NM_001145809.2(MYH14):c.718-286C>T	noncoding	Benign
19	50225698	G	A	G50225698A	MYH14	NM_001145809.2(MYH14):c.810+21G>A	noncoding	Benign
19	50226656	A	G	A50226656G	MYH14	NM_001145809.2(MYH14):c.811-247A>G	noncoding	Benign
19	50230956	G	A	G50230956A	MYH14	NM_001145809.2(MYH14):c.973+333G>A	noncoding	Benign
19	50231767	C	T	C50231767T	MYH14	NM_001145809.2(MYH14):c.974-163C>T	noncoding	Benign
19	50244585	A	G	A50244585G	MYH14	NM_001145809.2(MYH14):c.1210+248A>G	noncoding	Benign
19	50247138	G	A	G50247138A	MYH14	NM_001145809.2(MYH14):c.1329+16G>A	noncoding	Benign
19	50247162	C	T	C50247162T	MYH14	NM_001145809.2(MYH14):c.1329+40C>T	noncoding	Benign
19	50247240	C	T	C50247240T	MYH14	NM_001145809.2(MYH14):c.1329+118C>T	noncoding	Benign
19	50247350	A	T	A50247350T	MYH14	NM_001145809.2(MYH14):c.1329+228A>T	noncoding	Benign
19	50248970	T	C	T50248970C	MYH14	NM_001145809.2(MYH14):c.1330-17T>C	noncoding	Benign/Likely_benign
19	50249553	G	T	G50249553T	MYH14	NM_001145809.2(MYH14):c.1483-97G>T	noncoding	Benign
19	50249554	A	C	A50249554C	MYH14	NM_001145809.2(MYH14):c.1483-96A>C	noncoding	Benign
19	50249787	C	T	C50249787T	MYH14	NM_001145809.2(MYH14):c.1620C>T:p.Leu540=	coding	Benign
19	50250022	C	T	C50250022T	MYH14	NM_001145809.2(MYH14):c.1656+199C>T	noncoding	Benign
19	50250346	C	T	C50250346T	MYH14	NM_001145809.2(MYH14):c.1657-169C>T	noncoding	Benign
19	50250474	G	T	G50250474T	MYH14	NM_001145809.2(MYH14):c.1657-41G>T	noncoding	Benign
19	50250765	G	A	G50250765A	MYH14	NM_001145809.2(MYH14):c.1830+77G>A	noncoding	Benign
19	50250962	A	C	A50250962C	MYH14	NM_001145809.2(MYH14):c.1830+274A>C	noncoding	Benign
19	50252529	A	T	A50252529T	MYH14	NM_001145809.2(MYH14):c.1831-110A>T	noncoding	Benign
19	50253043	G	T	G50253043T	MYH14	NM_001145809.2(MYH14):c.1945+290G>T	noncoding	Benign
19	50257677	A	G	A50257677G	MYH14	NM_001145809.2(MYH14):c.2232+191A>G	noncoding	Benign
19	50258860	A	C	A50258860C	MYH14	NM_001145809.2(MYH14):c.2233-284A>C	noncoding	Benign
19	50259422	G	A	G50259422A	MYH14	NM_001145809.2(MYH14):c.2354+157G>A	noncoding	Benign
19	50260810	C	T	C50260810T	MYH14	NM_001145809.2(MYH14):c.2424+95C>T	noncoding	Benign
19	50260838	C	T	C50260838T	MYH14	NM_001145809.2(MYH14):c.2424+123C>T	noncoding	Benign
19	50260865	A	G	A50260865G	MYH14	NM_001145809.2(MYH14):c.2424+150A>G	noncoding	Benign
19	50260890	T	C	T50260890C	MYH14	NM_001145809.2(MYH14):c.2424+175T>C	noncoding	Benign
19	50261761	G	C	G50261761C	MYH14	NM_001145809.2(MYH14):c.2585+126G>C	noncoding	Benign
19	50261762	T	C	T50261762C	MYH14	NM_001145809.2(MYH14):c.2585+127T>C	noncoding	Benign
19	50263293	C	G	C50263293G	MYH14	NM_001145809.2(MYH14):c.2586-19C>G	noncoding	Benign
19	50263450	T	C	T50263450C	MYH14	NM_001145809.2(MYH14):c.2694+30T>C	noncoding	Benign
19	50263631	C	T	C50263631T	MYH14	NM_001145809.2(MYH14):c.2694+211C>T	noncoding	Benign
19	50263671	C	A	C50263671A	MYH14	NM_001145809.2(MYH14):c.2694+251C>A	noncoding	Benign
19	50267929	T	C	T50267929C	MYH14	NM_001145809.2(MYH14):c.2827-232T>C	noncoding	Benign
19	50268065	T	C	T50268065C	MYH14	NM_001145809.2(MYH14):c.2827-96T>C	noncoding	Benign
19	50268401	C	T	C50268401T	MYH14	NM_001145809.2(MYH14):c.3033+34C>T	noncoding	Benign
19	50272132	T	C	T50272132C	MYH14	NM_001145809.2(MYH14):c.3295+160T>C	noncoding	Benign
19	50272151	C	T	C50272151T	MYH14	NM_001145809.2(MYH14):c.3295+179C>T	noncoding	Benign
19	50272351	T	C	T50272351C	MYH14	NM_001145809.2(MYH14):c.3296-209T>C	noncoding	Benign
19	50272485	A	G	A50272485G	MYH14	NM_001145809.2(MYH14):c.3296-75A>G	noncoding	Benign
19	50275894	C	T	C50275894T	MYH14	NM_001145809.2(MYH14):c.3468-97C>T	noncoding	Benign
19	50276235	C	G	C50276235G	MYH14	NM_001145809.2(MYH14):c.3680+32C>G	noncoding	Benign
19	50276243	A	G	A50276243G	MYH14	NM_001145809.2(MYH14):c.3680+40A>G	noncoding	Benign
19	50276730	C	G	C50276730G	MYH14	NM_001145809.2(MYH14):c.3681-27C>G	noncoding	Benign
19	50276731	A	T	A50276731T	MYH14	NM_001145809.2(MYH14):c.3681-26A>T	noncoding	Benign
19	50276929	G	A	G50276929A	MYH14	NM_001145809.2(MYH14):c.3825+28G>A	noncoding	Benign
19	50277121	A	G	A50277121G	MYH14	NM_001145809.2(MYH14):c.3825+220A>G	noncoding	Benign
19	50278128	G	T	G50278128T	MYH14	NM_001145809.2(MYH14):c.3871G>T:p.Val1291Leu	coding	Benign/Likely_benign
19	50279829	C	T	C50279829T	MYH14	NM_001145809.2(MYH14):c.4033-208C>T	noncoding	Benign
19	50280022	G	A	G50280022A	MYH14	NM_001145809.2(MYH14):c.4033-15G>A	noncoding	Benign
19	50280218	C	T	C50280218T	MYH14	NM_001145809.2(MYH14):c.4138-13C>T	noncoding	Benign/Likely_benign
19	50281254	G	A	G50281254A	MYH14	NM_001145809.2(MYH14):c.4291-340G>A	noncoding	Benign
19	50281360	A	G	A50281360G	MYH14	NM_001145809.2(MYH14):c.4291-234A>G	noncoding	Benign
19	50281574	C	A	C50281574A	MYH14	NM_001145809.2(MYH14):c.4291-20C>A	noncoding	Benign
19	50282129	A	G	A50282129G	MYH14	NM_001145809.2(MYH14):c.4539+287A>G	noncoding	Benign
19	50286245	G	A	G50286245A	MYH14	NM_001145809.2(MYH14):c.4540-237G>A	noncoding	Benign
19	50289926	C	G	C50289926G	MYH14	NM_001145809.2(MYH14):c.4965+278C>G	noncoding	Benign
19	50291024	G	A	G50291024A	MYH14	NM_001145809.2(MYH14):c.5103G>A:p.Ala1701=	coding	Benign/Likely_benign
19	50291223	T	C	T50291223C	MYH14	NM_001145809.2(MYH14):c.5127+175T>C	noncoding	Benign
19	50291308	G	T	G50291308T	MYH14	NM_001145809.2(MYH14):c.5127+260G>T	noncoding	Benign
19	50292007	G	A	G50292007A	MYH14	NM_001145809.2(MYH14):c.5128-254G>A	noncoding	Benign
19	50292302	C	A	C50292302A	MYH14	NM_001145809.2(MYH14):c.5169C>A:p.Arg1723=	coding	Benign
19	50292622	T	G	T50292622G	MYH14	NM_001145809.2(MYH14):c.5256+233T>G	noncoding	Benign
19	50293095	C	A	C50293095A	MYH14	NM_001145809.2(MYH14):c.5257-138C>A	noncoding	Benign
19	50293379	G	T	G50293379T	MYH14	NM_001145809.2(MYH14):c.5345+58G>T	noncoding	Benign
19	50293665	G	A	G50293665A	MYH14	NM_001145809.2(MYH14):c.5447G>A:p.Arg1816His	coding	Benign/Likely_benign
19	50293791	G	A	G50293791A	MYH14	NM_001145809.2(MYH14):c.5469+104G>A	noncoding	Benign
19	50293874	A	G	A50293874G	MYH14	NM_001145809.2(MYH14):c.5469+187A>G	noncoding	Benign
19	50308711	G	A	G50308711A	MYH14	NM_001145809.2(MYH14):c.5788-294G>A	noncoding	Benign
19	50308964	A	G	A50308964G	MYH14	NM_001145809.2(MYH14):c.5788-41A>G	noncoding	Benign
19	50308987	C	A	C50308987A	MYH14	NM_001145809.2(MYH14):c.5788-18C>A	noncoding	Benign
19	50309711	A	C	A50309711C	MYH14	NM_001145809.2(MYH14):c.6032A>C:p.Asp2011Ala	coding	Benign
19	50320375	A	G	A50320375G	KCNC3	NM_004977.3(KCNC3):c.2171-26T>C	noncoding	Benign
19	50321066	G	T	G50321066T	KCNC3	NM_004977.3(KCNC3):c.1979-282C>A	noncoding	Benign
19	50322972	C	T	C50322972T	KCNC3	NM_004977.3(KCNC3):c.1978+3G>A	noncoding	Benign/Likely_benign
19	50323026	C	T	C50323026T	KCNC3	NM_004977.3(KCNC3):c.1927G>A:p.Gly643Ser	coding	Benign
19	50323077	C	G	C50323077G	KCNC3	NM_004977.3(KCNC3):c.1876G>C:p.Gly626Arg	coding	Benign
19	50323234	G	C	G50323234C	KCNC3	NM_004977.3(KCNC3):c.1719C>G:p.Asn573Lys	coding	Benign
19	50323408	C	T	C50323408T	KCNC3	NM_004977.3(KCNC3):c.1545G>A:p.Ser515=	coding	Benign
19	50323693	G	A	G50323693A	KCNC3	NM_004977.3(KCNC3):c.1260C>T:p.Arg420=	coding	Benign
19	50323729	G	A	G50323729A	KCNC3	NM_004977.3(KCNC3):c.1224C>T:p.Asp408=	coding	Benign
19	50323873	G	A	G50323873A	KCNC3	NM_004977.3(KCNC3):c.1080C>T:p.Thr360=	coding	Benign
19	50323936	G	A	G50323936A	KCNC3	NM_004977.3(KCNC3):c.1017C>T:p.Asn339=	coding	Benign/Likely_benign
19	50324086	C	A	C50324086A	KCNC3	NM_004977.3(KCNC3):c.871-4G>T	noncoding	Benign/Likely_benign
19	50324103	G	C	G50324103C	KCNC3	NM_004977.3(KCNC3):c.871-21C>G	noncoding	Benign
19	50324217	A	G	A50324217G	KCNC3	NM_004977.3(KCNC3):c.871-135T>C	noncoding	Benign
19	50328609	G	A	G50328609A	KCNC3	NM_004977.3(KCNC3):c.474C>T:p.Cys158=	coding	Benign
19	50328807	G	T	G50328807T	KCNC3	NM_004977.3(KCNC3):c.276C>A:p.Ile92=	coding	Benign
19	50376267	C	G	C50376267G	NR1H2	Single_allele	noncoding	Benign
19	50384216	G	A	G50384216A	POLD1	Single_allele	noncoding	Benign
19	50398636	G	A	G50398636A	POLD1	NM_002691.4(POLD1):c.-1-215G>A	noncoding	Benign
19	50398807	T	C	T50398807C	POLD1	NM_002691.4(POLD1):c.-1-44T>C	noncoding	Benign
19	50398870	C	T	C50398870T	POLD1	NM_002691.4(POLD1):c.19C>T:p.Pro7Ser	coding	Benign
19	50398953	C	T	C50398953T	POLD1	NM_002691.4(POLD1):c.102C>T:p.Phe34=	coding	Benign/Likely_benign
19	50399074	T	C	T50399074C	POLD1	NM_002691.4(POLD1):c.202+21T>C	noncoding	Benign
19	50402069	G	C	G50402069C	POLD1	NM_002691.4(POLD1):c.534G>C:p.Gly178=	coding	Benign/Likely_benign
19	50402155	A	G	A50402155G	POLD1	NM_002691.4(POLD1):c.589+31A>G	noncoding	Benign
19	50402189	C	T	C50402189T	POLD1	NM_002691.4(POLD1):c.590-16C>T	noncoding	Benign/Likely_benign
19	50402254	C	T	C50402254T	POLD1	NM_002691.4(POLD1):c.639C>T:p.Thr213=	coding	Benign/Likely_benign
19	50402260	G	A	G50402260A	POLD1	NM_002691.4(POLD1):c.645G>A:p.Ala215=	coding	Benign/Likely_benign
19	50402398	G	A	G50402398A	POLD1	NM_002691.4(POLD1):c.758+25G>A	noncoding	Benign
19	50402985	G	C	G50402985C	POLD1	NM_002691.4(POLD1):c.971-68G>C	noncoding	Benign
19	50403034	G	A	G50403034A	POLD1	NM_002691.4(POLD1):c.971-19G>A	noncoding	Benign/Likely_benign
19	50403143	C	T	C50403143T	POLD1	NM_002691.4(POLD1):c.1061C>T:p.Ala354Val	coding	Benign/Likely_benign
19	50403144	G	A	G50403144A	POLD1	NM_002691.4(POLD1):c.1062G>A:p.Ala354=	coding	Benign/Likely_benign
19	50403235	C	T	C50403235T	POLD1	NM_002691.4(POLD1):c.1137+16C>T	noncoding	Benign/Likely_benign
19	50403272	G	A	G50403272A	POLD1	NM_002691.4(POLD1):c.1137+53G>A	noncoding	Benign
19	50403479	G	T	G50403479T	POLD1	NM_002691.4(POLD1):c.1138-14G>T	noncoding	Benign/Likely_benign
19	50403537	C	T	C50403537T	POLD1	NM_002691.4(POLD1):c.1182C>T:p.Thr394=	coding	Benign/Likely_benign
19	50403748	T	C	T50403748C	POLD1	NM_002691.4(POLD1):c.1242+151T>C	noncoding	Benign
19	50403911	A	C	A50403911C	POLD1	NM_002691.4(POLD1):c.1242+314A>C	noncoding	Benign
19	50405850	C	A	C50405850A	POLD1	NM_002691.4(POLD1):c.1243-332C>A	noncoding	Benign
19	50406101	G	A	G50406101A	POLD1	NM_002691.4(POLD1):c.1243-81G>A	noncoding	Benign
19	50406167	G	T	G50406167T	POLD1	NM_002691.4(POLD1):c.1243-15G>T	noncoding	Benign/Likely_benign
19	50406394	C	G	C50406394G	POLD1	NM_002691.4(POLD1):c.1384-13C>G	noncoding	Benign/Likely_benign
19	50407048	G	A	G50407048A	POLD1	NM_002691.4(POLD1):c.1560G>A:p.Leu520=	coding	Benign/Likely_benign
19	50407108	C	T	C50407108T	POLD1	NM_002691.4(POLD1):c.1620C>T:p.Gly540=	coding	Benign/Likely_benign
19	50407309	C	T	C50407309T	POLD1	NM_002691.4(POLD1):c.1687-18C>T	noncoding	Benign/Likely_benign
19	50408703	A	T	A50408703T	POLD1	NM_002691.4(POLD1):c.1776-82A>T	noncoding	Benign
19	50409206	C	T	C50409206T	POLD1	NM_002691.4(POLD1):c.1977C>T:p.Ile659=	coding	Benign
19	50409250	T	C	T50409250C	POLD1	NM_002691.4(POLD1):c.2006+15T>C	noncoding	Benign/Likely_benign
19	50409251	C	T	C50409251T	POLD1	NM_002691.4(POLD1):c.2006+16C>T	noncoding	Benign/Likely_benign
19	50409252	G	A	G50409252A	POLD1	NM_002691.4(POLD1):c.2006+17G>A	noncoding	Benign/Likely_benign
19	50409648	G	A	G50409648A	POLD1	NM_002691.4(POLD1):c.2136G>A:p.Pro712=	coding	Benign/Likely_benign
19	50414539	G	C	G50414539C	POLD1	NM_002691.4(POLD1):c.2389-276G>C	noncoding	Benign
19	50415604	C	T	C50415604T	POLD1	NM_002691.4(POLD1):c.2717+14C>T	noncoding	Benign/Likely_benign
19	50415679	G	C	G50415679C	POLD1	NM_002691.4(POLD1):c.2718-45G>C	noncoding	Benign
19	50415682	A	C	A50415682C	POLD1	NM_002691.4(POLD1):c.2718-42A>C	noncoding	Benign
19	50415769	C	T	C50415769T	POLD1	NM_002691.4(POLD1):c.2763C>T:p.Arg921=	coding	Benign/Likely_benign
19	50416571	A	G	A50416571G	POLD1	NM_002691.4(POLD1):c.2954-39A>G	noncoding	Benign
19	50417049	C	T	C50417049T	POLD1	NM_002691.4(POLD1):c.3072C>T:p.Ala1024=	coding	Benign/Likely_benign
19	50417109	G	A	G50417109A	POLD1	NM_002691.4(POLD1):c.3120+12G>A	noncoding	Benign/Likely_benign
19	50417157	C	T	C50417157T	POLD1	NM_002691.4(POLD1):c.3121-15C>T	noncoding	Benign/Likely_benign
19	50417250	G	A	G50417250A	POLD1	NM_002691.4(POLD1):c.3199G>A:p.Glu1067Lys	coding	Pathogenic
19	50417286	G	A	G50417286A	POLD1	NM_002691.4(POLD1):c.3218+17G>A	noncoding	Benign/Likely_benign
19	50417688	C	G	C50417688G	POLD1	NM_002691.4(POLD1):c.3219-154C>G	noncoding	Benign
19	50417702	G	T	G50417702T	POLD1	NM_002691.4(POLD1):c.3219-140G>T	noncoding	Benign
19	50417790	C	A	C50417790A	POLD1	NM_002691.4(POLD1):c.3219-52C>A	noncoding	Benign
19	50418015	T	C	T50418015C	POLD1	NM_001256849.1(POLD1):c.*68T>C	noncoding	Benign
19	50478955	A	C	A50478955C	EMC10	NM_206538.4(EMC10):c.188-2A>C	noncoding	Pathogenic
19	50479028	C	T	C50479028T	EMC10	NM_206538.4(EMC10):c.259C>T:p.Gln87Ter	coding	Pathogenic
19	50479058	C	T	C50479058T	EMC10	NM_206538.4(EMC10):c.289C>T:p.Arg97Ter	coding	Pathogenic/Likely_pathogenic
19	50482148	G	A	G50482148A	EMC10	NM_206538.4(EMC10):c.679-1G>A	noncoding	Pathogenic
19	50668818	G	A	G50668818A	SHANK1	NM_016148.5(SHANK1):c.3142C>T:p.Arg1048Ter	coding	Pathogenic
19	50688867	G	A	G50688867A	SHANK1	NM_016148.5(SHANK1):c.2149C>T:p.Arg717Ter	coding	Pathogenic
19	50688879	G	A	G50688879A	SHANK1	NM_016148.5(SHANK1):c.2137C>T:p.Arg713Ter	coding	Pathogenic
19	50704144	G	A	G50704144A	SHANK1	NM_016148.5(SHANK1):c.1198C>T:p.Arg400Ter	coding	Pathogenic
19	50860142	C	T	C50860142T	KLK3	NM_001648.2(KLK3):c.*15C>T	noncoding	Benign
19	50907062	A	G	A50907062G	KLK4	NM_004917.5(KLK4):c.637T>C:p.Cys213Arg	coding	Pathogenic
19	50907142	G	A	G50907142A	KLK4	NM_004917.5(KLK4):c.613-56C>T	noncoding	Benign
19	50907215	A	G	A50907215G	KLK4	NM_004917.5(KLK4):c.613-129T>C	noncoding	Benign
19	50908132	T	C	T50908132C	KLK4	NM_004917.5(KLK4):c.612+227A>G	noncoding	Benign
19	50908309	C	T	C50908309T	KLK4	NM_004917.5(KLK4):c.612+50G>A	noncoding	Benign
19	50909059	A	G	A50909059G	KLK4	NM_004917.5(KLK4):c.224+193T>C	noncoding	Benign
19	50909070	C	G	C50909070G	KLK4	NM_004917.5(KLK4):c.224+182G>C	noncoding	Benign
19	50909160	G	C	G50909160C	KLK4	NM_004917.5(KLK4):c.224+92C>G	noncoding	Benign
19	50909306	G	T	G50909306T	KLK4	NM_004917.5(KLK4):c.170C>A:p.Ser57Ter	coding	Pathogenic
19	50909412	A	C	A50909412C	KLK4	NM_004917.5(KLK4):c.64T>G:p.Ser22Ala	coding	Benign
19	50909583	G	T	G50909583T	KLK4	NM_004917.5(KLK4):c.62-169C>A	noncoding	Benign
19	50910534	G	A	G50910534A	KLK4	NM_004917.5(KLK4):c.61+144C>T	noncoding	Benign
19	50910546	G	C	G50910546C	KLK4	NM_004917.5(KLK4):c.61+132C>G	noncoding	Benign
19	50910650	A	T	A50910650T	KLK4	NM_004917.5(KLK4):c.61+28T>A	noncoding	Benign
19	51224937	T	C	T51224937C	CD33	Single_allele	noncoding	Benign
19	51225221	C	T	C51225221T	CD33	NM_001772.4(CD33):c.41C>T:p.Ala14Val	coding	Benign
19	51225385	A	G	A51225385G	CD33	NM_001772.4(CD33):c.205A>G:p.Arg69Gly	coding	Benign
19	51226338	T	C	T51226338C	CD33	NM_001772.4(CD33):c.727T>C:p.Phe243Leu	coding	Benign
19	51235210	G	A	G51235210A	CD33	NM_001772.4(CD33):c.799G>A:p.Val267Ile	coding	Benign
19	51235662	G	A	G51235662A	CD33	NM_001772.4(CD33):c.910G>A:p.Gly304Arg	coding	Benign
19	51235665	T	C	T51235665C	CD33	NM_001772.4(CD33):c.913T>C:p.Ser305Pro	coding	Benign
19	51235678	T	C	T51235678C	CD33	NM_001772.4(CD33):c.924+2T>C	noncoding	Benign
19	51239889	G	C	G51239889C	CD33	NM_001772.4(CD33):c.*201G>C	noncoding	Benign
19	51344941	G	A	G51344941A	ETFB	Single_allele	noncoding	Benign
19	51345006	A	T	A51345006T	ETFB	Single_allele	noncoding	Benign
19	51346899	C	G	C51346899G	ETFB	NM_001985.3(ETFB):c.597+1G>C	noncoding	Pathogenic
19	51347007	G	A	G51347007A	ETFB	NM_001985.3(ETFB):c.490C>T:p.Arg164Trp	coding	Pathogenic
19	51347148	T	C	T51347148C	ETFB	NM_001985.3(ETFB):c.439-90A>G	noncoding	Benign
19	51350142	G	A	G51350142A	ETFB	NM_001985.3(ETFB):c.438+187C>T	noncoding	Benign
19	51350146	G	T	G51350146T	ETFB	NM_001985.3(ETFB):c.438+183C>A	noncoding	Benign
19	51350214	C	T	C51350214T	ETFB	NM_001985.3(ETFB):c.438+115G>A	noncoding	Benign
19	51350503	G	C	G51350503C	ETFB	NM_001985.3(ETFB):c.376-112C>G	noncoding	Benign
19	51352957	C	T	C51352957T	ETFB	NM_001985.3(ETFB):c.375+175G>A	noncoding	Benign
19	51353414	G	A	G51353414A	ETFB	NM_001985.3(ETFB):c.217-124C>T	noncoding	Benign
19	51353421	A	G	A51353421G	ETFB	NM_001985.3(ETFB):c.217-131T>C	noncoding	Benign
19	51354404	C	T	C51354404T	ETFB	NM_001985.3(ETFB):c.58-96G>A	coding	Benign
19	51354520	T	G	T51354520G	ETFB	NM_001985.3(ETFB):c.58-212A>C	coding	Benign/Likely_benign
19	51366092	G	A	G51366092A	ETFB	NM_001985.3(ETFB):c.57+178C>T	noncoding	Benign
19	51366433	C	T	C51366433T	ETFB	Single_allele	noncoding	Benign
19	51366568	A	G	A51366568G	ETFB	Single_allele	noncoding	Benign
19	51380473	G	A	G51380473A	LIM2	NM_001161748.2(LIM2):c.460+32C>T	noncoding	Benign
19	51380577	G	A	G51380577A	LIM2	NM_001161748.2(LIM2):c.388C>T:p.Arg130Cys	coding	Pathogenic
19	51382111	C	T	C51382111T	LIM2	NM_001161748.2(LIM2):c.325+307G>A	noncoding	Benign
19	51382216	C	T	C51382216T	LIM2	NM_001161748.2(LIM2):c.325+202G>A	noncoding	Benign
19	51386932	G	A	G51386932A	LIM2	NM_001161748.2(LIM2):c.175+337C>T	noncoding	Benign
19	51387487	T	C	T51387487C	LIM2	NM_001161748.2(LIM2):c.-6-38A>G	noncoding	Benign
19	51387491	G	A	G51387491A	LIM2	NM_001161748.2(LIM2):c.-6-42C>T	noncoding	Benign
19	51387511	G	A	G51387511A	LIM2	NM_001161748.2(LIM2):c.-6-62C>T	noncoding	Benign
19	51387668	G	A	G51387668A	LIM2	NM_001161748.2(LIM2):c.-6-219C>T	noncoding	Benign
19	52190185	T	C	T52190185C	PPP2R1A	NM_014225.6(PPP2R1A):c.78+11T>C	noncoding	Benign
19	52202046	G	A	G52202046A	PPP2R1A	NM_014225.6(PPP2R1A):c.169+12G>A	noncoding	Benign
19	52211366	C	T	C52211366T	PPP2R1A	NM_014225.6(PPP2R1A):c.377C>T:p.Ala126Val	coding	Benign
19	52211400	C	T	C52211400T	PPP2R1A	NM_014225.6(PPP2R1A):c.411C>T:p.Gly137=	coding	Benign
19	52211419	C	T	C52211419T	PPP2R1A	NM_014225.6(PPP2R1A):c.430C>T:p.Arg144Cys	coding	Pathogenic
19	52211427	G	A	G52211427A	PPP2R1A	NM_014225.6(PPP2R1A):c.438G>A:p.Ser146=	coding	Benign/Likely_benign
19	52211466	C	T	C52211466T	PPP2R1A	NM_014225.6(PPP2R1A):c.477C>T:p.Ser159=	coding	Benign
19	52211481	G	A	G52211481A	PPP2R1A	NM_014225.6(PPP2R1A):c.492G>A:p.Ala164=	coding	Benign
19	52212671	G	A	G52212671A	PPP2R1A	NM_014225.6(PPP2R1A):c.504-15G>A	noncoding	Benign
19	52212720	A	G	A52212720G	PPP2R1A	NM_014225.6(PPP2R1A):c.538A>G:p.Met180Val	coding	Pathogenic
19	52213115	A	T	A52213115T	PPP2R1A	NM_014225.6(PPP2R1A):c.807+5A>T	noncoding	Benign
19	52213124	C	T	C52213124T	PPP2R1A	NM_014225.6(PPP2R1A):c.807+14C>T	noncoding	Benign
19	52220263	C	G	C52220263G	PPP2R1A	NM_014225.6(PPP2R1A):c.1363+14C>G	noncoding	Benign
19	52220963	C	G	C52220963G	PPP2R1A	NM_014225.6(PPP2R1A):c.1364-16C>G	noncoding	Benign
19	52222085	T	C	T52222085C	PPP2R1A	NM_014225.6(PPP2R1A):c.1519-14T>C	coding	Benign
19	52222152	G	A	G52222152A	PPP2R1A	NM_014225.6(PPP2R1A):c.1572G>A:p.Thr524=	coding	Benign
19	52225714	C	T	C52225714T	PPP2R1A	NM_014225.6(PPP2R1A):c.1662-3C>T	noncoding	Benign
19	52225777	C	T	C52225777T	PPP2R1A	NM_014225.6(PPP2R1A):c.1722C>T:p.Asp574=	coding	Benign
19	53794169	T	C	T53794169C	NLRP12	NM_144687.4(NLRP12):c.3099-33A>G	noncoding	Benign
19	53794284	A	G	A53794284G	NLRP12	NM_144687.4(NLRP12):c.3099-148T>C	noncoding	Benign
19	53795721	C	G	C53795721G	NLRP12	NM_144687.4(NLRP12):c.3098+138G>C	noncoding	Benign
19	53795760	C	T	C53795760T	NLRP12	NM_144687.4(NLRP12):c.3098+99G>A	noncoding	Benign
19	53796047	T	C	T53796047C	NLRP12	NM_144687.4(NLRP12):c.2928-18A>G	noncoding	Benign
19	53798232	C	T	C53798232T	NLRP12	NM_144687.4(NLRP12):c.2927+11G>A	noncoding	Benign
19	53801054	T	G	T53801054G	NLRP12	NM_144687.4(NLRP12):c.2756+173A>C	noncoding	Benign
19	53805264	G	A	G53805264A	NLRP12	NM_144687.4(NLRP12):c.2414+16C>T	noncoding	Benign
19	53807460	G	A	G53807460A	NLRP12	NM_144687.4(NLRP12):c.2243+35C>T	noncoding	Benign
19	53807707	G	C	G53807707C	NLRP12	NM_144687.4(NLRP12):c.2073-42C>G	noncoding	Benign
19	53809542	C	A	C53809542A	NLRP12	NM_144687.4(NLRP12):c.2072+45G>T	noncoding	Benign
19	53809542	C	G	C53809542G	NLRP12	NM_144687.4(NLRP12):c.2072+45G>C	noncoding	Benign
19	53811292	G	A	G53811292A	NLRP12	NM_144687.4(NLRP12):c.371-4C>T	noncoding	Benign
19	53811331	G	A	G53811331A	NLRP12	NM_144687.4(NLRP12):c.371-43C>T	noncoding	Benign
19	53815068	A	G	A53815068G	NLRP12	NM_144687.4(NLRP12):c.290-80T>C	noncoding	Benign
19	53823895	G	A	G53823895A	NLRP12	NM_144687.4(NLRP12):c.280C>T:p.Leu94=	coding	Benign
19	53824572	G	A	G53824572A	NLRP12	Single_allele	noncoding	Benign
19	53882183	A	C	A53882183C	PRKCG	Single_allele	noncoding	Benign
19	53882601	A	G	A53882601G	PRKCG	NM_002739.5(PRKCG):c.107A>G:p.His36Arg	coding	Pathogenic
19	53882971	G	T	G53882971T	PRKCG	NM_002739.5(PRKCG):c.171-192G>T	noncoding	Benign
19	53883959	G	T	G53883959T	PRKCG	NM_002739.5(PRKCG):c.203-202G>T	noncoding	Benign
19	53884059	A	T	A53884059T	PRKCG	NM_002739.5(PRKCG):c.203-102A>T	noncoding	Benign
19	53889327	G	A	G53889327A	PRKCG	NM_002739.5(PRKCG):c.286-311G>A	noncoding	Benign
19	53889494	C	G	C53889494G	PRKCG	NM_002739.5(PRKCG):c.286-144C>G	noncoding	Benign
19	53889572	A	C	A53889572C	PRKCG	NM_002739.5(PRKCG):c.286-66A>C	noncoding	Benign
19	53890046	G	A	G53890046A	PRKCG	NM_002739.5(PRKCG):c.529+29G>A	noncoding	Benign
19	53892362	G	C	G53892362C	PRKCG	NM_002739.5(PRKCG):c.687-147G>C	noncoding	Benign
19	53892758	A	G	A53892758G	PRKCG	NM_002739.5(PRKCG):c.821+115A>G	noncoding	Benign
19	53892782	G	A	G53892782A	PRKCG	NM_002739.5(PRKCG):c.821+139G>A	noncoding	Benign
19	53892788	A	G	A53892788G	PRKCG	NM_002739.5(PRKCG):c.821+145A>G	noncoding	Benign
19	53892954	C	T	C53892954T	PRKCG	NM_002739.5(PRKCG):c.822-34C>T	noncoding	Benign
19	53898654	T	G	T53898654G	PRKCG	NM_002739.5(PRKCG):c.1281+26T>G	noncoding	Benign
19	53898763	T	G	T53898763G	PRKCG	NM_002739.5(PRKCG):c.1281+135T>G	noncoding	Benign
19	53900259	C	G	C53900259G	PRKCG	NM_002739.5(PRKCG):c.1308C>G:p.Tyr436Ter	coding	Pathogenic
19	53900547	T	C	T53900547C	PRKCG	NM_002739.5(PRKCG):c.1437-64T>C	noncoding	Benign
19	53900882	T	G	T53900882G	PRKCG	NM_002739.5(PRKCG):c.1575+133T>G	noncoding	Benign
19	53903344	A	T	A53903344T	PRKCG	NM_002739.5(PRKCG):c.1656+191A>T	noncoding	Benign
19	53904356	T	C	T53904356C	PRKCG	NM_002739.5(PRKCG):c.1657-279T>C	noncoding	Benign
19	53906423	G	A	G53906423A	PRKCG	NM_002739.5(PRKCG):c.1871G>A:p.Arg624Gln	coding	Benign/Likely_benign
19	53906529	G	C	G53906529C	PRKCG	NM_002739.5(PRKCG):c.1905+72G>C	noncoding	Benign
19	54118280	T	A	T54118280A	PRPF31	NM_015629.4(PRPF31):c.2T>A:p.Met1Lys	coding	Pathogenic
19	54118301	T	G	T54118301G	PRPF31	NM_015629.4(PRPF31):c.23T>G:p.Leu8Ter	coding	Pathogenic
19	54118572	G	A	G54118572A	PRPF31	NM_015629.4(PRPF31):c.178-1G>A	noncoding	Pathogenic
19	54121865	G	T	G54121865T	PRPF31	NM_015629.4(PRPF31):c.244G>T:p.Gly82Ter	coding	Pathogenic
19	54121963	C	T	C54121963T	PRPF31	NM_015629.4(PRPF31):c.322+20C>T	noncoding	Benign
19	54122386	C	T	C54122386T	PRPF31	NM_015629.4(PRPF31):c.323-111C>T	noncoding	Benign
19	54122495	A	G	A54122495G	PRPF31	NM_015629.4(PRPF31):c.323-2A>G	noncoding	Pathogenic
19	54122496	G	C	G54122496C	PRPF31	NM_015629.4(PRPF31):c.323-1G>C	noncoding	Pathogenic
19	54122523	A	T	A54122523T	PRPF31	NM_015629.4(PRPF31):c.349A>T:p.Lys117Ter	coding	Pathogenic
19	54122675	T	C	T54122675C	PRPF31	NM_015629.4(PRPF31):c.420+81T>C	noncoding	Benign
19	54123452	A	C	A54123452C	PRPF31	NM_015629.4(PRPF31):c.421-2A>C	noncoding	Pathogenic/Likely_pathogenic
19	54123452	A	G	A54123452G	PRPF31	NM_015629.4(PRPF31):c.421-2A>G	noncoding	Pathogenic
19	54123453	G	A	G54123453A	PRPF31	NM_015629.4(PRPF31):c.421-1G>A	noncoding	Pathogenic
19	54123453	G	T	G54123453T	PRPF31	NM_015629.4(PRPF31):c.421-1G>T	noncoding	Pathogenic
19	54123556	C	T	C54123556T	PRPF31	NM_015629.4(PRPF31):c.523C>T:p.Gln175Ter	coding	Pathogenic/Likely_pathogenic
19	54123748	G	A	G54123748A	PRPF31	NM_015629.4(PRPF31):c.528-1G>A	noncoding	Pathogenic
19	54123750	C	T	C54123750T	PRPF31	NM_015629.4(PRPF31):c.529C>T:p.Gln177Ter	coding	Pathogenic
19	54123786	G	T	G54123786T	PRPF31	NM_015629.4(PRPF31):c.565G>T:p.Glu189Ter	coding	Pathogenic
19	54123837	G	T	G54123837T	PRPF31	NM_015629.4(PRPF31):c.616G>T:p.Glu206Ter	coding	Pathogenic
19	54124506	C	T	C54124506T	PRPF31	NM_015629.4(PRPF31):c.705C>T:p.Ala235=	coding	Benign
19	54124598	C	A	C54124598A	PRPF31	NM_015629.4(PRPF31):c.797C>A:p.Ser266Ter	coding	Pathogenic
19	54124696	G	A	G54124696A	PRPF31	NM_015629.4(PRPF31):c.855+40G>A	noncoding	Benign
19	54126526	A	G	A54126526G	PRPF31	NM_015629.4(PRPF31):c.856-2A>G	noncoding	Pathogenic
19	54126587	G	A	G54126587A	PRPF31	NM_015629.4(PRPF31):c.915G>A:p.Val305=	coding	Benign
19	54126625	G	A	G54126625A	PRPF31	NM_015629.4(PRPF31):c.945+8G>A	noncoding	Benign
19	54128001	G	T	G54128001T	PRPF31	NM_015629.4(PRPF31):c.946-72G>T	noncoding	Benign
19	54128006	G	A	G54128006A	PRPF31	NM_015629.4(PRPF31):c.946-67G>A	noncoding	Benign
19	54128061	C	T	C54128061T	PRPF31	NM_015629.4(PRPF31):c.946-12C>T	noncoding	Benign
19	54128187	C	T	C54128187T	PRPF31	NM_015629.4(PRPF31):c.1060C>T:p.Arg354Ter	coding	Pathogenic/Likely_pathogenic
19	54128329	G	C	G54128329C	PRPF31	NM_015629.4(PRPF31):c.1098G>C:p.Leu366=	coding	Benign
19	54128353	G	A	G54128353A	PRPF31	NM_015629.4(PRPF31):c.1122G>A:p.Gln374=	coding	Benign
19	54128379	T	G	T54128379G	PRPF31	NM_015629.4(PRPF31):c.1146+2T>G	noncoding	Pathogenic/Likely_pathogenic
19	54129039	G	A	G54129039A	PRPF31	NM_015629.4(PRPF31):c.1147-18G>A	noncoding	Benign
19	54129051	C	G	C54129051G	PRPF31	NM_015629.4(PRPF31):c.1147-6C>G	noncoding	Benign
19	54129055	A	G	A54129055G	PRPF31	NM_015629.4(PRPF31):c.1147-2A>G	noncoding	Pathogenic
19	54129063	G	T	G54129063T	PRPF31	NM_015629.4(PRPF31):c.1153G>T:p.Glu385Ter	coding	Pathogenic
19	54129075	C	T	C54129075T	PRPF31	NM_015629.4(PRPF31):c.1165C>T:p.Gln389Ter	coding	Pathogenic/Likely_pathogenic
19	54129111	A	T	A54129111T	PRPF31	NM_015629.4(PRPF31):c.1201A>T:p.Lys401Ter	coding	Pathogenic
19	54129316	C	T	C54129316T	PRPF31	NM_015629.4(PRPF31):c.1320C>T:p.Thr440=	coding	Benign/Likely_benign
19	54131393	C	G	C54131393G	PRPF31	NM_015629.4(PRPF31):c.1461C>G:p.Leu487=	coding	Benign
19	54143660	C	T	C54143660T	CNOT3	NM_014516.4(CNOT3):c.169C>T:p.Arg57Trp	coding	Pathogenic
19	54145835	A	G	A54145835G	CNOT3	NM_014516.4(CNOT3):c.703+18A>G	noncoding	Benign
19	54148193	C	T	C54148193T	CNOT3	NM_014516.4(CNOT3):c.940C>T:p.Pro314Ser	coding	Benign
19	54148530	C	T	C54148530T	CNOT3	NM_014516.4(CNOT3):c.1277C>T:p.Ala426Val	coding	Benign
19	54149567	C	T	C54149567T	CNOT3	NM_014516.4(CNOT3):c.1414C>T:p.Pro472Ser	coding	Benign
19	54152426	A	G	A54152426G	CNOT3	NM_014516.4(CNOT3):c.1706-2A>G	noncoding	Pathogenic
19	54152972	A	T	A54152972T	CNOT3	NM_014516.4(CNOT3):c.2010A>T:p.Thr670=	coding	Benign
19	54153766	C	T	C54153766T	CNOT3	NM_014516.4(CNOT3):c.2089C>T:p.Arg697Ter	coding	Pathogenic
19	54174099	C	T	C54174099T	MBOAT7	NM_024298.5(MBOAT7):c.1364G>A:p.Arg455Gln	coding	Benign/Likely_benign
19	54174203	G	A	G54174203A	MBOAT7	NM_024298.5(MBOAT7):c.1260C>T:p.Ala420=	coding	Benign
19	54174401	G	T	G54174401T	MBOAT7	NM_024298.5(MBOAT7):c.1062C>A:p.Tyr354Ter	coding	Pathogenic
19	54181023	C	G	C54181023G	MBOAT7	NM_024298.5(MBOAT7):c.604G>C:p.Gly202Arg	coding	Pathogenic
19	54190237	C	T	C54190237T	TSEN34	Single_allele	noncoding	Benign
19	54190483	G	C	G54190483C	TSEN34	NM_024075.5(TSEN34):c.-5+33G>C	noncoding	Benign
19	54191164	C	G	C54191164G	TSEN34	NM_024075.5(TSEN34):c.-4-197C>G	noncoding	Benign
19	54191626	A	G	A54191626G	TSEN34	NM_001077446.4(TSEN34):c.243+19A>G	noncoding	Benign
19	54191791	G	A	G54191791A	TSEN34	NM_001077446.4(TSEN34):c.314G>A:p.Arg105Gln	coding	Benign/Likely_benign
19	54193224	T	C	T54193224C	TSEN34	NM_001077446.4(TSEN34):c.795T>C:p.Pro265=	coding	Benign
19	54255498	T	C	T54255498C	LILRB5	NM_001081442.3(LILRB5):c.740A>G:p.Asp247Gly	coding	Benign
19	54930603	G	A	G54930603A	NLRP7	NM_001127255.2(NLRP7):c.2706C>T:p.Ala902=	coding	Benign/Likely_benign
19	54982283	C	T	C54982283T	NLRP2	NM_017852.5(NLRP2):c.585C>T:p.Phe195=	coding	Benign
19	54982360	C	T	C54982360T	NLRP2	NM_017852.5(NLRP2):c.662C>T:p.Thr221Met	coding	Benign
19	54982743	G	C	G54982743C	NLRP2	NM_017852.5(NLRP2):c.1045G>C:p.Glu349Gln	coding	Benign
19	54982746	G	C	G54982746C	NLRP2	NM_017852.5(NLRP2):c.1048G>C:p.Glu350Gln	coding	Benign
19	54982758	A	G	A54982758G	NLRP2	NM_017852.5(NLRP2):c.1060A>G:p.Ile354Val	coding	Benign/Likely_benign
19	54983264	A	G	A54983264G	NLRP2	NM_017852.5(NLRP2):c.1566A>G:p.Glu522=	coding	Benign
19	54983283	A	G	A54983283G	NLRP2	NM_017852.5(NLRP2):c.1585A>G:p.Thr529Ala	coding	Benign
19	54983372	T	C	T54983372C	NLRP2	NM_017852.5(NLRP2):c.1674T>C:p.Phe558=	coding	Benign
19	54990498	G	C	G54990498C	NLRP2	NM_017852.5(NLRP2):c.2538-4G>C	noncoding	Benign
19	55132755	G	C	G55132755C	TNNT1	NM_003283.6(TNNT1):c.*160C>G	noncoding	Benign
19	55133969	C	T	C55133969T	TNNT1	NM_003283.6(TNNT1):c.751-42G>A	noncoding	Benign
19	55137229	C	T	C55137229T	TNNT1	NM_003283.6(TNNT1):c.502-17G>A	noncoding	Benign
19	55138047	C	A	C55138047A	TNNT1	NM_003283.6(TNNT1):c.415G>T:p.Glu139Ter	coding	Pathogenic
19	55141185	C	T	C55141185T	TNNT1	NM_003283.6(TNNT1):c.309+1G>A	noncoding	Pathogenic
19	55141783	G	A	G55141783A	TNNT1	NM_003283.6(TNNT1):c.192+74C>T	noncoding	Benign
19	55142151	T	C	T55142151C	TNNT1	NM_003283.6(TNNT1):c.129-231A>G	noncoding	Benign
19	55142160	A	G	A55142160G	TNNT1	NM_003283.6(TNNT1):c.129-240T>C	noncoding	Benign
19	55145581	G	T	G55145581T	TNNT1	NM_003283.6(TNNT1):c.107-16C>A	noncoding	Benign
19	55149131	A	G	A55149131G	TNNT1	NM_003283.6(TNNT1):c.-12+30T>C	noncoding	Benign
19	55151818	C	T	C55151818T	TNNI3	NM_000363.5(TNNI3):c.*16G>A	noncoding	Benign
19	55151881	C	T	C55151881T	TNNI3	NM_000363.5(TNNI3):c.586G>A:p.Asp196Asn	coding	Pathogenic/Likely_pathogenic
19	55151931	A	G	A55151931G	TNNI3	NM_000363.5(TNNI3):c.550-14T>C	noncoding	Benign/Likely_benign
19	55154210	G	A	G55154210A	TNNI3	NM_000363.5(TNNI3):c.373-4C>T	noncoding	Benign/Likely_benign
19	55154321	C	G	C55154321G	TNNI3	NM_000363.5(TNNI3):c.373-115G>C	noncoding	Benign
19	55156276	G	C	G55156276C	TNNI3	NM_000363.5(TNNI3):c.207C>G:p.Arg69=	coding	Benign/Likely_benign
19	55156438	T	C	T55156438C	TNNI3	NM_000363.5(TNNI3):c.151-106A>G	noncoding	Benign
19	55156623	A	C	A55156623C	TNNI3	NM_000363.5(TNNI3):c.130T>G:p.Ser44Ala	coding	Pathogenic
19	55156829	T	G	T55156829G	TNNI3	NM_000363.5(TNNI3):c.109-185A>C	noncoding	Benign
19	55156868	G	C	G55156868C	TNNI3	NM_000363.5(TNNI3):c.108+182C>G	noncoding	Benign
19	55156942	C	G	C55156942G	TNNI3	NM_000363.5(TNNI3):c.108+108G>C	noncoding	Benign
19	55157437	T	C	T55157437C	TNNI3	NM_000363.5(TNNI3):c.12-129A>G	noncoding	Benign
19	55157451	A	G	A55157451G	TNNI3	NM_000363.5(TNNI3):c.11+128T>C	noncoding	Benign
19	55157480	G	C	G55157480C	TNNI3	NM_000363.5(TNNI3):c.11+99C>G	noncoding	Benign
19	55157649	C	T	C55157649T	TNNI3	NM_000363.5(TNNI3):c.-60G>A	noncoding	Benign
19	55159938	C	T	C55159938T	DNAAF3	NM_001256715.2(DNAAF3):c.1124G>A:p.Cys375Tyr	coding	Benign
19	55160353	A	G	A55160353G	DNAAF3	NM_001256715.2(DNAAF3):c.1048+287T>C	noncoding	Benign
19	55160362	G	A	G55160362A	DNAAF3	NM_001256715.2(DNAAF3):c.1048+278C>T	noncoding	Benign
19	55160788	G	A	G55160788A	DNAAF3	NM_001256715.2(DNAAF3):c.913-13C>T	noncoding	Benign/Likely_benign
19	55160886	T	C	T55160886C	DNAAF3	NM_001256715.2(DNAAF3):c.913-111A>G	noncoding	Benign
19	55160930	T	C	T55160930C	DNAAF3	NM_001256715.2(DNAAF3):c.912+135A>G	noncoding	Benign
19	55161076	G	A	G55161076A	DNAAF3	NM_001256715.2(DNAAF3):c.901C>T:p.Gln301Ter	coding	Pathogenic
19	55161233	C	A	C55161233A	DNAAF3	NM_001256715.2(DNAAF3):c.790-46G>T	noncoding	Benign
19	55161478	C	T	C55161478T	DNAAF3	NM_001256715.2(DNAAF3):c.664-60G>A	noncoding	Benign
19	55161599	G	T	G55161599T	DNAAF3	NM_001256715.2(DNAAF3):c.663+44C>A	noncoding	Benign
19	55161877	G	A	G55161877A	DNAAF3	NM_001256715.2(DNAAF3):c.481-52C>T	noncoding	Benign
19	55162378	C	A	C55162378A	DNAAF3	NM_001256715.2(DNAAF3):c.323-88G>T	noncoding	Benign
19	55165225	G	A	G55165225A	DNAAF3	NM_001256715.2(DNAAF3):c.322+145C>T	noncoding	Benign
19	55166155	C	T	C55166155T	DNAAF3	NM_001256715.2(DNAAF3):c.86-155G>A	noncoding	Benign
19	55166417	C	T	C55166417T	DNAAF3	NM_001256715.2(DNAAF3):c.-4G>A	coding	Benign/Likely_benign
19	55166533	C	G	C55166533G	DNAAF3	NM_001256715.2(DNAAF3):c.-15G>C	coding	Benign/Likely_benign
19	55166857	T	A	T55166857A	DNAAF3	Single_allele	noncoding	Benign
19	55167031	C	A	C55167031A	DNAAF3	Single_allele	noncoding	Benign
19	56027874	C	T	C56027874T	NLRP5	NM_153447.4(NLRP5):c.1641C>T:p.Asp547=	coding	Benign
19	56027918	G	A	G56027918A	NLRP5	NM_153447.4(NLRP5):c.1685G>A:p.Arg562His	coding	Benign/Likely_benign
19	57230669	G	A	G57230669A	AURKC	Single_allele	noncoding	Benign
19	57230880	C	T	C57230880T	AURKC	Single_allele	noncoding	Benign
19	57231335	A	G	A57231335G	AURKC	NM_001015878.2(AURKC):c.58+29A>G	noncoding	Benign
19	57231671	T	C	T57231671C	AURKC	NM_001015878.2(AURKC):c.59-71T>C	noncoding	Benign
19	57231699	C	G	C57231699G	AURKC	NM_001015878.2(AURKC):c.59-43C>G	noncoding	Benign
19	57231966	C	T	C57231966T	AURKC	NM_001015878.2(AURKC):c.105-67C>T	noncoding	Benign
19	57232398	C	T	C57232398T	AURKC	NM_001015878.2(AURKC):c.297-144C>T	noncoding	Benign
19	57232834	A	C	A57232834C	AURKC	NM_001015878.2(AURKC):c.435+154A>C	noncoding	Benign
19	57233004	G	A	G57233004A	AURKC	NM_001015878.2(AURKC):c.435+324G>A	noncoding	Benign
19	57233754	C	T	C57233754T	AURKC	NM_001015878.2(AURKC):c.584+146C>T	noncoding	Benign
19	57233767	A	C	A57233767C	AURKC	NM_001015878.2(AURKC):c.584+159A>C	noncoding	Benign
19	57234704	C	T	C57234704T	AURKC	NM_001015878.2(AURKC):c.585-180C>T	noncoding	Benign
19	57235043	C	G	C57235043G	AURKC	NM_001015878.2(AURKC):c.744C>G:p.Tyr248Ter	coding	Pathogenic
19	58499226	A	G	A58499226G	SLC27A5	NM_012254.3(SLC27A5):c.1668-6T>C	noncoding	Benign
19	58499452	G	T	G58499452T	SLC27A5	NM_012254.3(SLC27A5):c.1667+40C>A	noncoding	Benign
19	58509682	A	G	A58509682G	SLC27A5	NM_012254.3(SLC27A5):c.1057+165T>C	noncoding	Benign
19	58548070	C	T	C58548070T	TRIM28	NM_005762.3(TRIM28):c.991C>T:p.Gln331Ter	coding	Pathogenic
19	58548362	G	A	G58548362A	TRIM28	NM_005762.3(TRIM28):c.1170G>A:p.Lys390=	coding	Benign
20	408274	G	C	G408274C	RBCK1	Single_allele	noncoding	Benign
20	408636	G	A	G408636A	RBCK1	NM_031229.4(RBCK1):c.-122G>A	noncoding	Benign
20	408812	C	T	C408812T	RBCK1	NM_031229.4(RBCK1):c.22+33C>T	noncoding	Benign
20	409666	A	T	A409666T	RBCK1	NM_031229.4(RBCK1):c.23-215A>T	noncoding	Benign
20	417284	C	T	C417284T	RBCK1	NM_031229.4(RBCK1):c.168-242C>T	noncoding	Benign
20	417506	G	T	G417506T	RBCK1	NM_031229.4(RBCK1):c.168-20G>T	noncoding	Benign
20	417752	C	T	C417752T	RBCK1	NM_031229.4(RBCK1):c.282C>T:p.Phe94=	coding	Benign
20	419117	G	A	G419117A	RBCK1	NM_031229.4(RBCK1):c.461-230G>A	noncoding	Benign
20	419124	G	A	G419124A	RBCK1	NM_031229.4(RBCK1):c.461-223G>A	noncoding	Benign
20	419185	G	A	G419185A	RBCK1	NM_031229.4(RBCK1):c.461-162G>A	noncoding	Benign
20	419713	G	T	G419713T	RBCK1	NM_031229.4(RBCK1):c.738G>T:p.Ala246=	coding	Benign
20	419726	C	T	C419726T	RBCK1	NM_031229.4(RBCK1):c.751C>T:p.Gln251Ter	coding	Pathogenic
20	419863	G	A	G419863A	RBCK1	NM_031229.4(RBCK1):c.756+132G>A	noncoding	Benign
20	419867	C	A	C419867A	RBCK1	NM_031229.4(RBCK1):c.756+136C>A	noncoding	Benign
20	419871	A	T	A419871T	RBCK1	NM_031229.4(RBCK1):c.756+140A>T	noncoding	Benign
20	419872	C	G	C419872G	RBCK1	NM_031229.4(RBCK1):c.756+141C>G	noncoding	Benign
20	419878	T	A	T419878A	RBCK1	NM_031229.4(RBCK1):c.756+147T>A	noncoding	Benign
20	420856	G	C	G420856C	RBCK1	NM_031229.4(RBCK1):c.757-15G>C	noncoding	Benign
20	420913	C	T	C420913T	RBCK1	NM_031229.4(RBCK1):c.799C>T:p.Gln267Ter	coding	Pathogenic/Likely_pathogenic
20	421098	C	A	C421098A	RBCK1	NM_031229.4(RBCK1):c.917+67C>A	noncoding	Benign
20	421233	C	T	C421233T	RBCK1	NM_031229.4(RBCK1):c.917+202C>T	noncoding	Benign
20	422066	A	G	A422066G	RBCK1	NM_031229.4(RBCK1):c.918-61A>G	noncoding	Benign
20	422158	C	T	C422158T	RBCK1	NM_031229.4(RBCK1):c.949C>T:p.Gln317Ter	coding	Pathogenic
20	422166	G	A	G422166A	RBCK1	NM_031229.4(RBCK1):c.957G>A:p.Ala319=	coding	Benign
20	422277	C	G	C422277G	RBCK1	NM_031229.4(RBCK1):c.1029+39C>G	noncoding	Benign
20	427295	G	A	G427295A	RBCK1	NM_031229.4(RBCK1):c.1030-18G>A	noncoding	Benign
20	427609	T	A	T427609A	RBCK1	NM_031229.4(RBCK1):c.1209+117T>A	noncoding	Benign
20	428538	C	T	C428538T	RBCK1	NM_031229.4(RBCK1):c.1257C>T:p.Ala419=	coding	Benign
20	428590	G	T	G428590T	RBCK1	NM_031229.4(RBCK1):c.1308+1G>T	coding	Pathogenic/Likely_pathogenic
20	428609	G	A	G428609A	RBCK1	NM_031229.4(RBCK1):c.1308+20G>A	noncoding	Benign
20	428648	C	T	C428648T	RBCK1	NM_031229.4(RBCK1):c.1308+59C>T	noncoding	Benign
20	428652	G	A	G428652A	RBCK1	NM_031229.4(RBCK1):c.1308+63G>A	noncoding	Benign
20	429158	T	C	T429158C	RBCK1	NM_031229.4(RBCK1):c.1452+64T>C	noncoding	Benign
20	438423	C	T	C438423T	TBC1D20	NM_144628.4(TBC1D20):c.*163G>A	noncoding	Benign
20	438640	C	T	C438640T	TBC1D20	NM_144628.4(TBC1D20):c.1158G>A:p.Val386=	coding	Benign
20	438648	G	A	G438648A	TBC1D20	NM_144628.4(TBC1D20):c.1150C>T:p.Leu384=	coding	Benign/Likely_benign
20	439086	C	T	C439086T	TBC1D20	NM_144628.4(TBC1D20):c.956+22G>A	noncoding	Benign
20	439454	T	C	T439454C	TBC1D20	NM_144628.4(TBC1D20):c.769-159A>G	noncoding	Benign
20	440300	T	C	T440300C	TBC1D20	NM_144628.4(TBC1D20):c.716A>G:p.Tyr239Cys	coding	Benign
20	444997	C	A	C444997A	TBC1D20	NM_144628.4(TBC1D20):c.337+53G>T	noncoding	Benign
20	445221	G	A	G445221A	TBC1D20	NM_144628.4(TBC1D20):c.257-91C>T	noncoding	Benign
20	445413	C	T	C445413T	TBC1D20	NM_144628.4(TBC1D20):c.257-283G>A	noncoding	Benign
20	448284	C	T	C448284T	TBC1D20	NM_144628.4(TBC1D20):c.71-210G>A	noncoding	Benign
20	462199	G	C	G462199C	TBC1D20	NM_144628.4(TBC1D20):c.70+137C>G	noncoding	Benign
20	462293	C	G	C462293G	TBC1D20	NM_144628.4(TBC1D20):c.70+43G>C	noncoding	Benign
20	462321	G	A	G462321A	TBC1D20	NM_144628.4(TBC1D20):c.70+15C>T	noncoding	Benign/Likely_benign
20	462488	A	G	A462488G	TBC1D20	NM_144628.4(TBC1D20):c.-83T>C	noncoding	Benign
20	483959	C	T	C483959T	CSNK2A1	NM_177559.3(CSNK2A1):c.*2G>A	noncoding	Benign
20	483960	G	A	G483960A	CSNK2A1	NM_177559.3(CSNK2A1):c.*1C>T	noncoding	Benign
20	483978	C	T	C483978T	CSNK2A1	NM_177559.3(CSNK2A1):c.1159G>A:p.Ala387Thr	coding	Benign
20	484085	A	G	A484085G	CSNK2A1	NM_177559.3(CSNK2A1):c.1061-9T>C	noncoding	Benign
20	486552	T	C	T486552C	CSNK2A1	NM_177559.3(CSNK2A1):c.974-90A>G	noncoding	Benign
20	486639	G	C	G486639C	CSNK2A1	NM_177559.3(CSNK2A1):c.974-177C>G	noncoding	Benign
20	486714	T	C	T486714C	CSNK2A1	NM_177559.3(CSNK2A1):c.974-252A>G	noncoding	Benign
20	487357	T	C	T487357C	CSNK2A1	NM_177559.3(CSNK2A1):c.973+70A>G	noncoding	Benign
20	487465	C	T	C487465T	CSNK2A1	NM_177559.3(CSNK2A1):c.935G>A:p.Arg312Gln	coding	Pathogenic
20	487466	G	A	G487466A	CSNK2A1	NM_177559.3(CSNK2A1):c.934C>T:p.Arg312Trp	coding	Pathogenic/Likely_pathogenic
20	489620	G	A	G489620A	CSNK2A1	NM_177559.3(CSNK2A1):c.723+160C>T	noncoding	Benign
20	492083	C	T	C492083T	CSNK2A1	NM_177559.3(CSNK2A1):c.621+171G>A	noncoding	Benign
20	492346	C	T	C492346T	CSNK2A1	NM_177559.3(CSNK2A1):c.529G>A:p.Gly177Ser	coding	Pathogenic/Likely_pathogenic
20	495641	C	T	C495641T	CSNK2A1	NM_177559.3(CSNK2A1):c.510+78G>A	noncoding	Benign
20	495750	T	C	T495750C	CSNK2A1	NM_177559.3(CSNK2A1):c.479A>G:p.His160Arg	coding	Pathogenic
20	495756	T	C	T495756C	CSNK2A1	NM_177559.3(CSNK2A1):c.473A>G:p.Lys158Arg	coding	Pathogenic
20	497720	C	A	C497720A	CSNK2A1	NM_177559.3(CSNK2A1):c.426+1G>T	noncoding	Pathogenic
20	497747	G	A	G497747A	CSNK2A1	NM_177559.3(CSNK2A1):c.400C>T:p.Arg134Ter	coding	Pathogenic
20	497997	G	A	G497997A	CSNK2A1	NM_177559.3(CSNK2A1):c.367-217C>T	noncoding	Benign
20	499976	A	T	A499976T	CSNK2A1	NM_177559.3(CSNK2A1):c.214-42T>A	noncoding	Benign
20	505189	C	T	C505189T	CSNK2A1	NM_177559.3(CSNK2A1):c.142G>A:p.Gly48Ser	coding	Pathogenic
20	505204	G	A	G505204A	CSNK2A1	NM_177559.3(CSNK2A1):c.127C>T:p.Arg43Ter	coding	Pathogenic
20	508286	C	T	C508286T	CSNK2A1	NM_177559.3(CSNK2A1):c.101+165G>A	noncoding	Benign
20	508365	C	T	C508365T	CSNK2A1	NM_177559.3(CSNK2A1):c.101+86G>A	noncoding	Benign
20	761593	G	A	G761593A	SLC52A3	NM_033409.4(SLC52A3):c.1197+108C>T	noncoding	Benign
20	761595	T	C	T761595C	SLC52A3	NM_033409.4(SLC52A3):c.1197+106A>G	noncoding	Benign
20	761987	A	G	A761987G	SLC52A3	NM_033409.4(SLC52A3):c.1074-163T>C	noncoding	Benign
20	762072	A	C	A762072C	SLC52A3	NM_033409.4(SLC52A3):c.1074-248T>G	noncoding	Benign
20	763183	G	A	G763183A	SLC52A3	NM_033409.4(SLC52A3):c.1073+315C>T	noncoding	Benign
20	763388	A	T	A763388T	SLC52A3	NM_033409.4(SLC52A3):c.1073+110T>A	noncoding	Benign
20	763406	A	G	A763406G	SLC52A3	NM_033409.4(SLC52A3):c.1073+92T>C	noncoding	Benign
20	763796	G	A	G763796A	SLC52A3	NM_033409.4(SLC52A3):c.775C>T:p.Gln259Ter	coding	Pathogenic
20	764185	G	A	G764185A	SLC52A3	NM_033409.4(SLC52A3):c.568-182C>T	noncoding	Benign
20	764203	A	G	A764203G	SLC52A3	NM_033409.4(SLC52A3):c.568-200T>C	noncoding	Benign
20	764230	G	A	G764230A	SLC52A3	NM_033409.4(SLC52A3):c.568-227C>T	noncoding	Benign
20	765039	C	T	C765039T	SLC52A3	NM_033409.4(SLC52A3):c.567+169G>A	noncoding	Benign
20	765225	C	A	C765225A	SLC52A3	NM_033409.4(SLC52A3):c.550G>T:p.Glu184Ter	coding	Pathogenic
20	765329	C	T	C765329T	SLC52A3	NM_033409.4(SLC52A3):c.446G>A:p.Gly149Asp	coding	Pathogenic
20	765704	C	T	C765704T	SLC52A3	NM_033409.4(SLC52A3):c.71G>A:p.Trp24Ter	coding	Pathogenic/Likely_pathogenic
20	768330	T	C	T768330C	SLC52A3	NM_033409.4(SLC52A3):c.-85A>G	noncoding	Benign
20	1228538	A	T	A1228538T	RAD21L1	NM_001384355.1(RAD21L1):c.85A>T:p.Lys29Ter	coding	Pathogenic
20	1370028	T	C	T1370028C	FKBP1A-SDCBP2	NM_000801.5(FKBP1A):c.*81A>G	noncoding	Benign
20	1980356	C	T	C1980356T	PDYN	NM_024411.5(PDYN):c.732G>A:p.Pro244=	coding	Benign
20	1981129	C	T	C1981129T	PDYN	NM_024411.5(PDYN):c.130-171G>A	noncoding	Benign
20	1982767	G	A	G1982767A	PDYN	NM_024411.5(PDYN):c.129+189C>T	noncoding	Benign
20	1983018	G	A	G1983018A	PDYN	NM_024411.5(PDYN):c.67C>T:p.Leu23=	coding	Benign
20	1983045	T	C	T1983045C	PDYN	NM_024411.5(PDYN):c.40A>G:p.Met14Val	coding	Benign
20	1983349	A	G	A1983349G	PDYN	NM_024411.5(PDYN):c.-19-246T>C	noncoding	Benign
20	2380859	A	G	A2380859G	TGM6	Single_allele	noncoding	Benign
20	2380967	A	G	A2380967G	TGM6	NM_198994.3(TGM6):c.-2A>G	noncoding	Benign/Likely_benign
20	2380984	G	A	G2380984A	TGM6	NM_198994.3(TGM6):c.7+9G>A	noncoding	Benign
20	2381038	C	T	C2381038T	TGM6	NM_198994.3(TGM6):c.7+63C>T	noncoding	Benign
20	2381148	G	A	G2381148A	TGM6	NM_198994.3(TGM6):c.7+173G>A	noncoding	Benign
20	2381278	A	G	A2381278G	TGM6	NM_198994.3(TGM6):c.7+303A>G	noncoding	Benign
20	2394590	A	T	A2394590T	TGM6	NM_198994.3(TGM6):c.146A>T:p.Asp49Val	coding	Benign/Likely_benign
20	2394794	G	T	G2394794T	TGM6	NM_198994.3(TGM6):c.181+169G>T	noncoding	Benign
20	2395269	C	G	C2395269G	TGM6	NM_198994.3(TGM6):c.257C>G:p.Thr86Arg	coding	Benign
20	2395480	T	C	T2395480C	TGM6	NM_198994.3(TGM6):c.424+44T>C	noncoding	Benign
20	2395658	G	A	G2395658A	TGM6	NM_198994.3(TGM6):c.424+222G>A	noncoding	Benign
20	2396274	T	A	T2396274A	TGM6	NM_198994.3(TGM6):c.425-232T>A	noncoding	Benign
20	2396317	T	A	T2396317A	TGM6	NM_198994.3(TGM6):c.425-189T>A	noncoding	Benign
20	2396511	G	A	G2396511A	TGM6	NM_198994.3(TGM6):c.430G>A:p.Asp144Asn	coding	Benign
20	2396892	T	C	T2396892C	TGM6	NM_198994.3(TGM6):c.543+268T>C	noncoding	Benign
20	2397663	T	C	T2397663C	TGM6	NM_198994.3(TGM6):c.544-255T>C	noncoding	Benign
20	2398314	G	A	G2398314A	TGM6	NM_198994.3(TGM6):c.672+268G>A	noncoding	Benign
20	2400406	C	T	C2400406T	TGM6	NM_198994.3(TGM6):c.951C>T:p.Phe317=	coding	Benign/Likely_benign
20	2400588	G	A	G2400588A	TGM6	NM_198994.3(TGM6):c.989+144G>A	noncoding	Benign
20	2403432	G	A	G2403432A	TGM6	NM_198994.3(TGM6):c.1025G>A:p.Arg342Gln	coding	Benign/Likely_benign
20	2403738	G	A	G2403738A	TGM6	NM_198994.3(TGM6):c.1251G>A:p.Thr417=	coding	Benign
20	2403824	G	T	G2403824T	TGM6	NM_198994.3(TGM6):c.1336+1G>T	coding	Pathogenic
20	2403951	C	T	C2403951T	TGM6	NM_198994.3(TGM6):c.1336+128C>T	noncoding	Benign
20	2416912	G	A	G2416912A	TGM6	NM_198994.3(TGM6):c.1337-320G>A	noncoding	Benign
20	2416947	A	C	A2416947C	TGM6	NM_198994.3(TGM6):c.1337-285A>C	noncoding	Benign
20	2417010	C	A	C2417010A	TGM6	NM_198994.3(TGM6):c.1337-222C>A	noncoding	Benign
20	2417563	G	T	G2417563T	TGM6	NM_198994.3(TGM6):c.1668G>T:p.Gly556=	coding	Benign
20	2417765	A	G	A2417765G	TGM6	NM_198994.3(TGM6):c.1678+192A>G	noncoding	Benign
20	2417768	C	G	C2417768G	TGM6	NM_198994.3(TGM6):c.1678+195C>G	noncoding	Benign
20	2417784	A	G	A2417784G	TGM6	NM_198994.3(TGM6):c.1678+211A>G	noncoding	Benign
20	2417807	A	G	A2417807G	TGM6	NM_198994.3(TGM6):c.1678+234A>G	noncoding	Benign
20	2417833	T	C	T2417833C	TGM6	NM_198994.3(TGM6):c.1678+260T>C	noncoding	Benign
20	2430120	T	C	T2430120C	TGM6	NM_198994.3(TGM6):c.1679-326T>C	noncoding	Benign
20	2430306	C	T	C2430306T	TGM6	NM_198994.3(TGM6):c.1679-140C>T	noncoding	Benign
20	2430722	G	A	G2430722A	TGM6	NM_198994.3(TGM6):c.1833+122G>A	noncoding	Benign
20	2431013	A	G	A2431013G	TGM6	NM_198994.3(TGM6):c.1953A>G:p.Glu651=	coding	Benign
20	2431146	C	T	C2431146T	TGM6	NM_198994.3(TGM6):c.1967+119C>T	noncoding	Benign
20	2432374	G	A	G2432374A	TGM6	NM_198994.3(TGM6):c.1968-116G>A	noncoding	Benign
20	2432493	G	A	G2432493A	TGM6	NM_198994.3(TGM6):c.1971G>A:p.Val657=	coding	Benign
20	2432826	T	G	T2432826G	TGM6	Single_allele	noncoding	Benign
20	2461627	C	A	C2461627A	SNRPB	Single_allele	noncoding	Benign
20	2461780	C	T	C2461780T	SNRPB	NM_003091.4(SNRPB):c.*149G>A	coding	Benign
20	2462470	G	A	G2462470A	SNRPB	NM_003091.4(SNRPB):c.685+166C>T	noncoding	Benign
20	2462795	G	A	G2462795A	SNRPB	NM_003091.4(SNRPB):c.560-34C>T	noncoding	Benign
20	2464098	C	T	C2464098T	SNRPB	NM_003091.4(SNRPB):c.268-199G>A	noncoding	Benign
20	2467362	G	A	G2467362A	SNRPB	NM_003091.4(SNRPB):c.155+245C>T	noncoding	Benign
20	2467826	A	C	A2467826C	SNRPB	NM_003091.4(SNRPB):c.4-68T>G	noncoding	Benign
20	2467941	G	T	G2467941T	SNRPB	NM_003091.4(SNRPB):c.4-183C>A	noncoding	Benign
20	2470805	G	T	G2470805T	SNRPB	Single_allele	noncoding	Benign
20	2470857	G	A	G2470857A	SNRPB	Single_allele	noncoding	Benign
20	2470858	C	T	C2470858T	SNRPB	Single_allele	noncoding	Benign
20	2471099	C	A	C2471099A	SNRPB	Single_allele	noncoding	Benign
20	2562023	C	T	C2562023T	TMC2	NM_080751.3(TMC2):c.554+13C>T	noncoding	Benign
20	2579132	G	C	G2579132C	TMC2	NM_080751.3(TMC2):c.646-14G>C	noncoding	Benign
20	2612360	A	G	A2612360G	TMC2	NM_080751.3(TMC2):c.1743+20A>G	noncoding	Benign
20	2612858	C	T	C2612858T	TMC2	NM_080751.3(TMC2):c.1744-336C>T	noncoding	Benign
20	2616323	T	A	T2616323A	TMC2	NM_080751.3(TMC2):c.1940+119T>A	noncoding	Benign
20	2616352	G	A	G2616352A	TMC2	NM_080751.3(TMC2):c.1940+148G>A	noncoding	Benign
20	2616427	T	G	T2616427G	TMC2	NM_080751.3(TMC2):c.1940+223T>G	noncoding	Benign
20	2616914	C	T	C2616914T	TMC2	NM_080751.3(TMC2):c.1941-158C>T	noncoding	Benign
20	2617332	G	A	G2617332A	TMC2	NM_080751.3(TMC2):c.2180+21G>A	noncoding	Benign
20	2617373	C	T	C2617373T	TMC2	NM_080751.3(TMC2):c.2180+62C>T	noncoding	Benign
20	2624662	G	A	G2624662A	TMC2	NM_080751.3(TMC2):c.2306+266G>A	noncoding	Benign
20	2635646	G	A	G2635646A	TMC2	NM_080751.3(TMC2):c.2307-280G>A	noncoding	Benign
20	2635705	G	T	G2635705T	TMC2	NM_080751.3(TMC2):c.2307-221G>T	noncoding	Benign
20	2635910	T	C	T2635910C	TMC2	NM_080751.3(TMC2):c.2307-16T>C	noncoding	Benign
20	2636033	C	G	C2636033G	TMC2	NM_080751.3(TMC2):c.2385+29C>G	noncoding	Benign
20	2637347	C	T	C2637347T	TMC2	NM_080751.3(TMC2):c.2386-127C>T	noncoding	Benign
20	2637448	G	A	G2637448A	TMC2	NM_080751.3(TMC2):c.2386-26G>A	noncoding	Benign
20	2637494	T	C	T2637494C	TMC2	NM_080751.3(TMC2):c.2406T>C:p.Ser802=	coding	Benign
20	2637662	C	T	C2637662T	TMC2	NM_080751.3(TMC2):c.2503+71C>T	noncoding	Benign
20	2641352	T	C	T2641352C	TMC2	NM_080751.3(TMC2):c.*1T>C	coding	Benign
20	2658516	T	C	T2658516C	IDH3B	NM_006899.5(IDH3B):c.*235A>G	coding	Benign/Likely_benign
20	2658766	C	T	C2658766T	IDH3B	NM_006899.5(IDH3B):c.1143G>A:p.Gln381=	coding	Benign
20	2658924	G	T	G2658924T	IDH3B	NM_006899.5(IDH3B):c.1072-87C>A	noncoding	Benign
20	2659056	G	A	G2659056A	IDH3B	NM_006899.5(IDH3B):c.1072-219C>T	coding	Benign
20	2659160	G	A	G2659160A	IDH3B	NM_006899.5(IDH3B):c.1072-323C>T	coding	Benign
20	2659387	A	T	A2659387T	IDH3B	NM_006899.5(IDH3B):c.1071+138T>A	noncoding	Benign
20	2659417	C	A	C2659417A	IDH3B	NM_006899.5(IDH3B):c.1071+108G>T	noncoding	Benign
20	2659456	G	A	G2659456A	IDH3B	NM_006899.5(IDH3B):c.1071+69C>T	noncoding	Benign
20	2659842	T	C	T2659842C	IDH3B	NM_006899.5(IDH3B):c.916-49A>G	noncoding	Benign
20	2663912	G	C	G2663912C	IDH3B	NM_006899.5(IDH3B):c.117+13C>G	noncoding	Benign
20	2664039	C	A	C2664039A	IDH3B	NM_006899.5(IDH3B):c.37-34G>T	noncoding	Benign
20	2664329	C	T	C2664329T	IDH3B	Single_allele	noncoding	Benign
20	2664350	G	A	G2664350A	IDH3B	Single_allele	noncoding	Benign
20	2664431	G	A	G2664431A	IDH3B	Single_allele	noncoding	Benign
20	2840498	C	T	C2840498T	VPS16	NM_022760.6(PCED1A):c.-309G>A	noncoding	Benign
20	2840754	C	T	C2840754T	VPS16	NM_022575.4(VPS16):c.-21C>T	noncoding	Benign
20	2840882	C	T	C2840882T	VPS16	NM_022575.4(VPS16):c.53+55C>T	coding	Benign
20	2840955	C	T	C2840955T	VPS16	NM_022575.4(VPS16):c.53+128C>T	coding	Benign
20	2860067	C	A	C2860067A	VPS16	NM_022575.4(VPS16):c.156C>A:p.Asn52Lys	coding	Pathogenic
20	2860127	C	T	C2860127T	VPS16	NM_022575.4(VPS16):c.216C>T:p.Ser72=	coding	Benign
20	2860283	G	A	G2860283A	VPS16	NM_022575.4(VPS16):c.285G>A:p.Glu95=	coding	Benign
20	2860792	C	T	C2860792T	VPS16	NM_022575.4(VPS16):c.559C>T:p.Arg187Ter	coding	Pathogenic
20	2861456	T	C	T2861456C	VPS16	NM_022575.4(VPS16):c.810-159T>C	noncoding	Benign
20	2862039	A	C	A2862039C	VPS16	NM_022575.4(VPS16):c.995-15A>C	noncoding	Benign
20	2862407	A	G	A2862407G	VPS16	NM_022575.4(VPS16):c.1072-172A>G	noncoding	Benign
20	2863102	T	C	T2863102C	VPS16	NM_022575.4(VPS16):c.1367+2T>C	noncoding	Pathogenic
20	2864265	C	T	C2864265T	VPS16	NM_022575.4(VPS16):c.1698C>T:p.Ile566_Glu567=	coding	Benign
20	2864393	C	T	C2864393T	VPS16	NM_022575.4(VPS16):c.1749C>T:p.Asn583_Glu584=	coding	Benign
20	2864484	G	A	G2864484A	VPS16	NM_022575.4(VPS16):c.1818+22G>A	noncoding	Benign
20	2864990	C	T	C2864990T	PTPRA;VPS16	NM_022575.4(VPS16):c.1939C>T:p.Arg647Ter	coding	Pathogenic
20	2865643	G	A	G2865643A	VPS16	NM_022575.4(VPS16):c.2271+148G>A	noncoding	Benign
20	3082515	T	C	T3082515C	AVP	Single_allele	noncoding	Benign
20	3082778	C	T	C3082778T	AVP	NM_000490.5(AVP):c.347G>A:p.Cys116Tyr	coding	Pathogenic
20	3083172	G	C	G3083172C	AVP	NM_000490.5(AVP):c.127C>G:p.Pro43Ala	coding	Benign
20	3083464	A	G	A3083464G	AVP	NM_000490.5(AVP):c.121-286T>C	noncoding	Benign
20	3084303	C	T	C3084303T	AVP	NM_000490.5(AVP):c.120+252G>A	noncoding	Benign
20	3084901	A	G	A3084901G	AVP	Single_allele	noncoding	Benign
20	3190691	C	T	C3190691T	DDRGK1	NM_023935.3(DDRGK1):c.907G>A:p.Ala303Thr	coding	Benign
20	3195345	C	T	C3195345T	DDRGK1	NM_023935.3(DDRGK1):c.519G>A:p.Glu173=	coding	Benign
20	3195363	T	C	T3195363C	DDRGK1	NM_023935.3(DDRGK1):c.511-10A>G	noncoding	Benign
20	3199987	G	A	G3199987A	DDRGK1	NM_023935.3(DDRGK1):c.510+14C>T	noncoding	Benign
20	3200020	C	A	C3200020A	DDRGK1	NM_023935.3(DDRGK1):c.491G>T:p.Arg164Leu	coding	Benign
20	3200067	G	A	G3200067A	DDRGK1	NM_023935.3(DDRGK1):c.444C>T:p.Leu148=	coding	Benign
20	3200078	G	A	G3200078A	DDRGK1	NM_023935.3(DDRGK1):c.433C>T:p.Arg145Trp	coding	Benign
20	3200326	C	G	C3200326G	DDRGK1	NM_023935.3(DDRGK1):c.408+16G>C	noncoding	Benign
20	3200327	A	C	A3200327C	DDRGK1	NM_023935.3(DDRGK1):c.408+15T>G	noncoding	Benign
20	3204528	A	T	A3204528T	DDRGK1	NM_023935.3(DDRGK1):c.91+9T>A	noncoding	Benign
20	3209336	G	A	G3209336A	ITPA	NM_001324237.2(ITPA):c.-272+303G>A	noncoding	Benign
20	3209393	C	G	C3209393G	ITPA	NM_033453.3(ITPA):c.-159C>G	noncoding	Benign
20	3209439	C	T	C3209439T	ITPA	NM_033453.3(ITPA):c.-113C>T	noncoding	Benign
20	3212971	G	A	G3212971A	ITPA	NM_033453.4(ITPA):c.67-198G>A	noncoding	Benign
20	3213028	G	A	G3213028A	ITPA	NM_033453.4(ITPA):c.67-141G>A	noncoding	Benign
20	3213041	C	T	C3213041T	ITPA	NM_033453.4(ITPA):c.67-128C>T	noncoding	Benign
20	3213086	G	A	G3213086A	ITPA	NM_033453.4(ITPA):c.67-83G>A	noncoding	Benign
20	3213332	G	A	G3213332A	ITPA	NM_033453.4(ITPA):c.138G>A:p.Gln46=	coding	Benign
20	3213527	G	A	G3213527A	ITPA	NM_033453.4(ITPA):c.189+144G>A	noncoding	Benign
20	3213795	C	T	C3213795T	ITPA	NM_033453.4(ITPA):c.190-190C>T	noncoding	Benign
20	3215269	T	G	T3215269G	ITPA	NM_033453.4(ITPA):c.264-12T>G	noncoding	Benign
20	3215280	G	A	G3215280A	ITPA	NM_033453.4(ITPA):c.264-1G>A	noncoding	Pathogenic/Likely_pathogenic
20	3215287	G	A	G3215287A	ITPA	NM_033453.4(ITPA):c.270G>A:p.Trp90Ter	coding	Pathogenic
20	3218631	C	A	C3218631A	ITPA	NM_033453.4(ITPA):c.410C>A:p.Ser137Ter	coding	Pathogenic
20	3218727	G	A	G3218727A	ITPA	NM_033453.4(ITPA):c.411+95G>A	noncoding	Benign
20	3218800	G	C	G3218800C	ITPA	NM_033453.4(ITPA):c.411+168G>C	noncoding	Benign
20	3221990	G	A	G3221990A	ITPA	NM_033453.4(ITPA):c.488+73G>A	noncoding	Benign
20	3222087	G	A	G3222087A	ITPA	NM_033453.4(ITPA):c.488+170G>A	noncoding	Benign
20	3223304	T	A	T3223304A	ITPA	NM_033453.4(ITPA):c.489-62T>A	noncoding	Benign
20	3223438	G	A	G3223438A	ITPA	NM_033453.4(ITPA):c.561G>A:p.Glu187=	coding	Benign
20	3223530	C	T	C3223530T	ITPA	NM_033453.4(ITPA):c.*68C>T	noncoding	Benign
20	3223585	G	A	G3223585A	ITPA	NM_033453.4(ITPA):c.*123G>A	noncoding	Benign
20	3228242	T	A	T3228242A	SLC4A11	NM_001174089.2(SLC4A11):c.2558+17A>T	noncoding	Benign
20	3228429	C	T	C3228429T	SLC4A11	NM_001174089.2(SLC4A11):c.2389-1G>A	coding	Pathogenic
20	3228493	C	T	C3228493T	SLC4A11	NM_001174089.2(SLC4A11):c.2388+19G>A	noncoding	Benign
20	3228550	G	A	G3228550A	SLC4A11	NM_001174089.2(SLC4A11):c.2350C>T:p.Gln784Ter	coding	Pathogenic
20	3229094	C	T	C3229094T	SLC4A11	NM_001174089.2(SLC4A11):c.2018+1G>A	noncoding	Pathogenic
20	3229607	T	C	T3229607C	SLC4A11	NM_001174089.2(SLC4A11):c.1659A>G:p.Ser553=	coding	Benign
20	3229608	G	T	G3229608T	SLC4A11	NM_001174089.2(SLC4A11):c.1658C>A:p.Ser553Ter	coding	Pathogenic
20	3229757	A	T	A3229757T	SLC4A11	NM_001174089.2(SLC4A11):c.1509T>A:p.Tyr503Ter	coding	Pathogenic
20	3230046	A	G	A3230046G	SLC4A11	NM_001174089.2(SLC4A11):c.1489+141T>C	noncoding	Benign
20	3230418	A	C	A3230418C	SLC4A11	NM_001174089.2(SLC4A11):c.1415+97T>G	noncoding	Benign
20	3230581	C	T	C3230581T	SLC4A11	NM_001174089.2(SLC4A11):c.1349G>A:p.Trp450Ter	coding	Pathogenic
20	3230731	C	T	C3230731T	SLC4A11	NM_001174089.2(SLC4A11):c.1282+1G>A	noncoding	Pathogenic
20	3230913	G	A	G3230913A	SLC4A11	NM_001174089.2(SLC4A11):c.1168+20C>T	noncoding	Benign
20	3231077	A	G	A3231077G	SLC4A11	NM_001174089.2(SLC4A11):c.1043-19T>C	noncoding	Benign
20	3231577	A	T	A3231577T	SLC4A11	NM_001174089.2(SLC4A11):c.730-29T>A	noncoding	Benign
20	3231579	A	G	A3231579G	SLC4A11	NM_001174089.2(SLC4A11):c.730-31T>C	noncoding	Benign
20	3233374	G	T	G3233374T	SLC4A11	NM_001174089.2(SLC4A11):c.729+140C>A	noncoding	Benign
20	3233480	C	T	C3233480T	SLC4A11	NM_001174089.2(SLC4A11):c.729+34G>A	noncoding	Benign
20	3233571	C	T	C3233571T	SLC4A11	NM_001174089.2(SLC4A11):c.672G>A:p.Trp224Ter	coding	Pathogenic
20	3233572	C	T	C3233572T	SLC4A11	NM_001174089.2(SLC4A11):c.671G>A:p.Trp224Ter	coding	Pathogenic
20	3233944	G	T	G3233944T	SLC4A11	NM_001174089.2(SLC4A11):c.582C>A:p.Tyr194Ter	coding	Pathogenic
20	3233949	G	A	G3233949A	SLC4A11	NM_001174089.2(SLC4A11):c.577C>T:p.Arg193Trp	coding	Pathogenic
20	3234400	C	G	C3234400G	SLC4A11	NM_001174089.2(SLC4A11):c.292-86G>C	noncoding	Benign
20	3234442	C	T	C3234442T	SLC4A11	NM_001174089.2(SLC4A11):c.291+126G>A	noncoding	Benign
20	3234573	G	A	G3234573A	SLC4A11	NM_001174089.2(SLC4A11):c.286C>T:p.Arg96Ter	coding	Pathogenic
20	3234796	C	A	C3234796A	SLC4A11	NM_001174089.2(SLC4A11):c.187G>T:p.Glu63Ter	coding	Pathogenic
20	3234909	G	A	G3234909A	SLC4A11	NM_001174089.2(SLC4A11):c.89-15C>T	noncoding	Benign
20	3237343	T	G	T3237343G	SLC4A11	NM_001174089.2(SLC4A11):c.88+201A>C	noncoding	Benign
20	3237355	C	T	C3237355T	SLC4A11	NM_001174089.2(SLC4A11):c.88+189G>A	noncoding	Benign
20	3237988	G	C	G3237988C	SLC4A11	NM_001174089.2(SLC4A11):c.44-400C>G	coding	Benign
20	3239248	A	G	A3239248G	SLC4A11	NM_001400277.1(SLC4A11):c.-15+100T>C	noncoding	Benign
20	3471261	C	T	C3471261T	ATRN	NM_139321.3(ATRN):c.154C>T:p.Leu52=	coding	Benign
20	3471303	T	C	T3471303C	ATRN	NM_139321.3(ATRN):c.196T>C:p.Leu66=	coding	Benign
20	3471394	C	T	C3471394T	ATRN	NM_139321.3(ATRN):c.287C>T:p.Ala96Val	coding	Benign
20	3535277	G	A	G3535277A	ATRN	NM_139321.3(ATRN):c.435G>A:p.Val145=	coding	Benign
20	3535304	C	T	C3535304T	ATRN	NM_139321.3(ATRN):c.462C>T:p.Tyr154=	coding	Benign
20	3547454	A	C	A3547454C	ATRN	NM_139321.3(ATRN):c.908A>C:p.Asp303Ala	coding	Benign
20	3560735	T	C	T3560735C	ATRN	NM_139321.3(ATRN):c.1277T>C:p.Ile426Thr	coding	Benign
20	3572825	G	A	G3572825A	ATRN	NM_139321.3(ATRN):c.1966G>A:p.Ala656Thr	coding	Benign
20	3575822	T	G	T3575822G	ATRN	NM_139321.3(ATRN):c.2093-5T>G	noncoding	Benign
20	3575956	G	A	G3575956A	ATRN	NM_139321.3(ATRN):c.2214+8G>A	noncoding	Benign
20	3582219	A	G	A3582219G	ATRN	NM_139321.3(ATRN):c.2629A>G:p.Asn877Asp	coding	Benign
20	3584025	C	T	C3584025T	ATRN	NM_139321.3(ATRN):c.2892C>T:p.Tyr964=	coding	Benign
20	3584899	C	G	C3584899G	ATRN	NM_139321.3(ATRN):c.3184+19C>G	noncoding	Benign
20	3591261	A	G	A3591261G	ATRN	NM_139321.3(ATRN):c.3277A>G:p.Ile1093Val	coding	Benign
20	3596415	G	A	G3596415A	ATRN	NM_139321.3(ATRN):c.3455G>A:p.Arg1152Lys	coding	Benign
20	3644183	G	A	G3644183A	ATRN	NM_139321.3(ATRN):c.4080G>A:p.Pro1360=	coding	Benign
20	3644201	C	T	C3644201T	ATRN	NM_139321.3(ATRN):c.4098C>T:p.Ala1366=	coding	Benign
20	3889376	G	A	G3889376A	PANK2	NM_153638.4(PANK2):c.276G>A:p.Arg92_Ala93=	coding	Benign/Likely_benign
20	3889497	A	G	A3889497G	PANK2	NM_001386393.1(PANK2):c.67A>G:p.Met23Val	coding	Pathogenic
20	3889562	C	T	C3889562T	PANK2	NM_001386393.1(PANK2):c.132C>T:p.Asp44=	coding	Benign
20	3889758	C	G	C3889758G	PANK2	NM_001386393.1(PANK2):c.298+30C>G	noncoding	Benign
20	3889762	C	T	C3889762T	PANK2	NM_001386393.1(PANK2):c.298+34C>T	noncoding	Benign
20	3889763	C	T	C3889763T	PANK2	NM_001386393.1(PANK2):c.298+35C>T	noncoding	Benign
20	3889770	C	A	C3889770A	PANK2	NM_001386393.1(PANK2):c.298+42C>A	noncoding	Benign
20	3890037	C	T	C3890037T	PANK2	NM_001386393.1(PANK2):c.298+309C>T	noncoding	Benign
20	3907690	A	G	A3907690G	PANK2	NM_001386393.1(PANK2):c.299-236A>G	noncoding	Benign
20	3907980	T	C	T3907980C	PANK2	NM_001386393.1(PANK2):c.353T>C:p.Phe118Ser	coding	Pathogenic
20	3908251	G	A	G3908251A	PANK2	NM_001386393.1(PANK2):c.624G>A:p.Ala208=	coding	Benign/Likely_benign
20	3908477	A	G	A3908477G	PANK2	NM_001386393.1(PANK2):c.651+199A>G	noncoding	Benign
20	3910559	A	C	A3910559C	PANK2	NM_001386393.1(PANK2):c.652-18A>C	noncoding	Benign
20	3910576	G	C	G3910576C	PANK2	NM_001386393.1(PANK2):c.652-1G>C	noncoding	Pathogenic
20	3910589	C	T	C3910589T	PANK2	NM_001386393.1(PANK2):c.664C>T:p.Gln222Ter	coding	Pathogenic
20	3910607	G	T	G3910607T	PANK2	NM_001386393.1(PANK2):c.682G>T:p.Glu228Ter	coding	Pathogenic
20	3910929	A	C	A3910929C	PANK2	NM_001386393.1(PANK2):c.905+99A>C	noncoding	Benign
20	3912239	A	G	A3912239G	PANK2	NM_001386393.1(PANK2):c.906-219A>G	noncoding	Benign
20	3912496	T	C	T3912496C	PANK2	NM_001386393.1(PANK2):c.944T>C:p.Leu315Pro	coding	Pathogenic
20	3912743	A	G	A3912743G	PANK2	NM_001386393.1(PANK2):c.1082+109A>G	noncoding	Benign
20	3917314	C	T	C3917314T	PANK2	NM_001386393.1(PANK2):c.1206+264C>T	noncoding	Benign
20	3918812	C	A	C3918812A	PANK2	NM_001386393.1(PANK2):c.1332+16C>A	noncoding	Benign
20	3922987	C	T	C3922987T	PANK2	NM_001386393.1(PANK2):c.1333-257C>T	noncoding	Benign
20	4699190	G	A	G4699190A	PRNP	NM_000311.5(PRNP):c.-10-21G>A	noncoding	Benign
20	4701861	C	T	C4701861T	PRNP	Single_allele	noncoding	Benign
20	5101102	C	G	C5101102G	TMEM230	NM_001009923.2(TMEM230):c.412-171G>C	noncoding	Benign
20	5106224	T	C	T5106224C	TMEM230	NM_001009923.2(TMEM230):c.375A>G:p.Ile125Met	coding	Benign
20	5106269	T	C	T5106269C	TMEM230	NM_001009923.2(TMEM230):c.330A>G:p.Ala110=	coding	Benign
20	5106272	G	A	G5106272A	TMEM230	NM_001009923.2(TMEM230):c.327C>T:p.Ile109=	coding	Benign
20	5106293	A	T	A5106293T	TMEM230	NM_001009923.2(TMEM230):c.306T>A:p.Pro102=	coding	Benign
20	5301912	C	T	C5301912T	PROKR2	NM_144773.4(PROKR2):c.*128G>A	noncoding	Benign
20	5301913	A	G	A5301913G	PROKR2	NM_144773.4(PROKR2):c.*127T>C	noncoding	Benign
20	5301954	T	C	T5301954C	PROKR2	NM_144773.4(PROKR2):c.*86A>G	noncoding	Benign
20	5301973	A	T	A5301973T	PROKR2	NM_144773.4(PROKR2):c.*67T>A	noncoding	Benign
20	5302988	A	G	A5302988G	PROKR2	NM_144773.4(PROKR2):c.459-252T>C	noncoding	Benign
20	5313651	G	A	G5313651A	PROKR2	NM_144773.4(PROKR2):c.458+261C>T	noncoding	Benign
20	5313677	C	T	C5313677T	PROKR2	NM_144773.4(PROKR2):c.458+235G>A	noncoding	Benign
20	5313769	T	A	T5313769A	PROKR2	NM_144773.4(PROKR2):c.458+143A>T	noncoding	Benign
20	5313786	A	G	A5313786G	PROKR2	NM_144773.4(PROKR2):c.458+126T>C	noncoding	Benign
20	5313815	G	A	G5313815A	PROKR2	NM_144773.4(PROKR2):c.458+97C>T	noncoding	Benign
20	5313850	C	T	C5313850T	PROKR2	NM_144773.4(PROKR2):c.458+62G>A	noncoding	Benign
20	5314417	G	A	G5314417A	PROKR2	NM_144773.4(PROKR2):c.-8-40C>T	noncoding	Benign
20	5952004	C	T	C5952004T	MCM8	NM_032485.6(MCM8):c.-5-7C>T	noncoding	Benign
20	5955247	A	C	A5955247C	MCM8	NM_032485.6(MCM8):c.482A>C:p.His161Pro	coding	Pathogenic
20	5986027	C	T	C5986027T	MCM8	NM_032485.6(MCM8):c.2059C>T:p.Arg687Ter	coding	Pathogenic
20	6077347	C	T	C6077347T	FERMT1	NM_017671.5(FERMT1):c.1861-1G>A	coding	Pathogenic
20	6077460	A	T	A6077460T	FERMT1	NM_017671.5(FERMT1):c.1861-114T>A	noncoding	Benign
20	6077563	T	C	T6077563C	FERMT1	NM_017671.5(FERMT1):c.1861-217A>G	noncoding	Benign
20	6079534	T	C	T6079534C	FERMT1	NM_017671.5(FERMT1):c.1762A>G:p.Asn588Asp	coding	Benign
20	6079617	T	C	T6079617C	FERMT1	NM_017671.5(FERMT1):c.1719-40A>G	noncoding	Benign
20	6079652	T	C	T6079652C	FERMT1	NM_017671.5(FERMT1):c.1719-75A>G	noncoding	Benign
20	6079748	C	T	C6079748T	FERMT1	NM_017671.5(FERMT1):c.1719-171G>A	noncoding	Benign
20	6079749	G	A	G6079749A	FERMT1	NM_017671.5(FERMT1):c.1719-172C>T	noncoding	Benign
20	6083727	G	A	G6083727A	FERMT1	NM_017671.5(FERMT1):c.1718+313C>T	noncoding	Benign
20	6083748	T	A	T6083748A	FERMT1	NM_017671.5(FERMT1):c.1718+292A>T	noncoding	Benign
20	6083773	T	A	T6083773A	FERMT1	NM_017671.5(FERMT1):c.1718+267A>T	noncoding	Benign
20	6083907	A	G	A6083907G	FERMT1	NM_017671.5(FERMT1):c.1718+133T>C	noncoding	Benign
20	6083959	C	T	C6083959T	FERMT1	NM_017671.5(FERMT1):c.1718+81G>A	noncoding	Benign
20	6083988	G	A	G6083988A	FERMT1	NM_017671.5(FERMT1):c.1718+52C>T	noncoding	Benign
20	6084192	T	C	T6084192C	FERMT1	NM_017671.5(FERMT1):c.1594-28A>G	noncoding	Benign
20	6085061	A	G	A6085061G	FERMT1	NM_017671.5(FERMT1):c.1593+5T>C	noncoding	Benign
20	6085067	T	C	T6085067C	FERMT1	NM_017671.5(FERMT1):c.1592A>G:p.Gln531Arg	coding	Benign
20	6085276	G	A	G6085276A	FERMT1	NM_017671.5(FERMT1):c.1383C>T:p.Tyr461=	coding	Benign/Likely_benign
20	6085281	G	A	G6085281A	FERMT1	NM_017671.5(FERMT1):c.1378C>T:p.Gln460Ter	coding	Pathogenic
20	6085500	G	A	G6085500A	FERMT1	NM_017671.5(FERMT1):c.1372-213C>T	noncoding	Benign
20	6088216	T	C	T6088216C	FERMT1	NM_017671.5(FERMT1):c.1265-333A>G	noncoding	Benign
20	6088915	C	T	C6088915T	FERMT1	NM_017671.5(FERMT1):c.1264+50G>A	noncoding	Benign
20	6088964	C	T	C6088964T	FERMT1	NM_017671.5(FERMT1):c.1264+1G>A	noncoding	Pathogenic
20	6089323	C	T	C6089323T	FERMT1	NM_017671.5(FERMT1):c.1140-234G>A	noncoding	Benign
20	6093886	G	A	G6093886A	FERMT1	NM_017671.5(FERMT1):c.1139+1053C>T	noncoding	Benign
20	6094102	G	A	G6094102A	FERMT1	NM_017671.5(FERMT1):c.1139+837C>T	noncoding	Benign
20	6094226	T	C	T6094226C	FERMT1	NM_017671.5(FERMT1):c.1139+713A>G	noncoding	Benign
20	6094441	A	G	A6094441G	FERMT1	NM_017671.5(FERMT1):c.1139+498T>C	noncoding	Benign
20	6094531	A	G	A6094531G	FERMT1	NM_017671.5(FERMT1):c.1139+408T>C	noncoding	Benign
20	6094863	T	C	T6094863C	FERMT1	NM_017671.5(FERMT1):c.1139+76A>G	noncoding	Benign
20	6094926	A	G	A6094926G	FERMT1	NM_017671.5(FERMT1):c.1139+13T>C	noncoding	Benign
20	6095261	A	G	A6095261G	FERMT1	NM_017671.5(FERMT1):c.1090-273T>C	noncoding	Benign
20	6096718	C	A	C6096718A	FERMT1	NM_017671.5(FERMT1):c.1089+184G>T	noncoding	Benign
20	6096854	T	G	T6096854G	FERMT1	NM_017671.5(FERMT1):c.1089+48A>C	noncoding	Benign
20	6096956	C	T	C6096956T	FERMT1	NM_017671.5(FERMT1):c.1035G>A:p.Ala345=	coding	Benign
20	6096997	G	A	G6096997A	FERMT1	NM_017671.5(FERMT1):c.994C>T:p.Gln332Ter	coding	Pathogenic
20	6097079	T	C	T6097079C	FERMT1	NM_017671.5(FERMT1):c.958-46A>G	noncoding	Benign
20	6097260	C	A	C6097260A	FERMT1	NM_017671.5(FERMT1):c.958-227G>T	noncoding	Benign
20	6097583	T	C	T6097583C	FERMT1	NM_017671.5(FERMT1):c.898A>G:p.Ile300Val	coding	Benign
20	6097593	G	A	G6097593A	FERMT1	NM_017671.5(FERMT1):c.888C>T:p.Ala296=	coding	Benign
20	6107301	C	T	C6107301T	FERMT1	NM_017671.5(FERMT1):c.849+231G>A	noncoding	Benign
20	6107313	C	T	C6107313T	FERMT1	NM_017671.5(FERMT1):c.849+219G>A	noncoding	Benign
20	6107358	G	A	G6107358A	FERMT1	NM_017671.5(FERMT1):c.849+174C>T	noncoding	Benign
20	6107424	C	T	C6107424T	FERMT1	NM_017671.5(FERMT1):c.849+108G>A	noncoding	Benign
20	6107646	C	T	C6107646T	FERMT1	NM_017671.5(FERMT1):c.747-12G>A	noncoding	Benign/Likely_benign
20	6110232	G	A	G6110232A	FERMT1	NM_017671.5(FERMT1):c.746+66C>T	noncoding	Benign
20	6110528	T	G	T6110528G	FERMT1	NM_017671.5(FERMT1):c.533-17A>C	noncoding	Benign
20	6110536	T	C	T6110536C	FERMT1	NM_017671.5(FERMT1):c.533-25A>G	noncoding	Benign
20	6112443	G	A	G6112443A	FERMT1	NM_017671.5(FERMT1):c.532+34C>T	noncoding	Benign
20	6112851	G	A	G6112851A	FERMT1	NM_017671.5(FERMT1):c.386-228C>T	noncoding	Benign
20	6115690	G	T	G6115690T	FERMT1	NM_017671.5(FERMT1):c.385+121C>A	noncoding	Benign
20	6115809	A	G	A6115809G	FERMT1	NM_017671.5(FERMT1):c.385+2T>C	noncoding	Pathogenic
20	6115855	G	C	G6115855C	FERMT1	NM_017671.5(FERMT1):c.341C>G:p.Ser114Ter	coding	Pathogenic
20	6115868	G	A	G6115868A	FERMT1	NM_017671.5(FERMT1):c.328C>T:p.Arg110Ter	coding	Pathogenic
20	6116225	A	T	A6116225T	FERMT1	NM_017671.5(FERMT1):c.152-181T>A	noncoding	Benign
20	6119301	G	A	G6119301A	FERMT1	NM_017671.5(FERMT1):c.151+103C>T	noncoding	Benign
20	6119355	C	A	C6119355A	FERMT1	NM_017671.5(FERMT1):c.151+49G>T	noncoding	Benign
20	6119384	G	A	G6119384A	FERMT1	NM_017671.5(FERMT1):c.151+20C>T	noncoding	Benign
20	6119594	A	G	A6119594G	FERMT1	NM_017671.5(FERMT1):c.-18-22T>C	noncoding	Benign
20	6119702	G	A	G6119702A	FERMT1	NM_017671.5(FERMT1):c.-18-130C>T	noncoding	Benign
20	6119720	T	C	T6119720C	FERMT1	NM_017671.5(FERMT1):c.-18-148A>G	noncoding	Benign
20	6119744	G	A	G6119744A	FERMT1	NM_017671.5(FERMT1):c.-18-172C>T	noncoding	Benign
20	6122694	C	G	C6122694G	FERMT1	NM_017671.5(FERMT1):c.-19+80G>C	noncoding	Benign
20	6770268	G	T	G6770268T	BMP2	NM_001200.4(BMP2):c.142G>T:p.Glu48Ter	coding	Pathogenic
20	6770391	C	T	C6770391T	BMP2	NM_001200.4(BMP2):c.265C>T:p.Gln89Ter	coding	Pathogenic
20	6770474	T	C	T6770474C	BMP2	NM_001200.4(BMP2):c.346+2T>C	noncoding	Pathogenic
20	6770669	A	G	A6770669G	BMP2	NM_001200.4(BMP2):c.346+197A>G	noncoding	Benign
20	6778652	C	T	C6778652T	BMP2	NM_001200.4(BMP2):c.754C>T:p.Gln252Ter	coding	Pathogenic
20	6778860	A	T	A6778860T	BMP2	NM_001200.4(BMP2):c.962A>T:p.His321Leu	coding	Pathogenic
20	6778950	C	G	C6778950G	BMP2	NM_001200.4(BMP2):c.1052C>G:p.Ser351Cys	coding	Pathogenic
20	6779333	A	C	A6779333C	BMP2	NM_001200.4(BMP2):c.*244A>C	noncoding	Benign
20	6779554	T	C	T6779554C	BMP2	NM_001200.4(BMP2):c.*465T>C	noncoding	Benign
20	8132718	A	G	A8132718G	PLCB1	NM_015192.4(PLCB1):c.67A>G:p.Lys23Glu	coding	Benign
20	8371367	G	A	G8371367A	PLCB1	NM_015192.4(PLCB1):c.178-15G>A	noncoding	Benign/Likely_benign
20	8371462	A	G	A8371462G	PLCB1	NM_015192.4(PLCB1):c.246+12A>G	noncoding	Benign
20	8408515	T	A	T8408515A	PLCB1	NM_015192.4(PLCB1):c.246+37065T>A	noncoding	Benign
20	8433397	C	G	C8433397G	PLCB1	NM_015192.4(PLCB1):c.246+61947C>G	noncoding	Benign
20	8433444	A	G	A8433444G	PLCB1	NM_015192.4(PLCB1):c.246+61994A>G	noncoding	Benign
20	8458413	C	G	C8458413G	PLCB1	NM_015192.4(PLCB1):c.246+86963C>G	noncoding	Benign
20	8458655	G	A	G8458655A	PLCB1	NM_015192.4(PLCB1):c.246+87205G>A	noncoding	Benign
20	8458657	A	G	A8458657G	PLCB1	NM_015192.4(PLCB1):c.246+87207A>G	noncoding	Benign
20	8458696	T	C	T8458696C	PLCB1	NM_015192.4(PLCB1):c.246+87246T>C	noncoding	Benign
20	8458721	G	A	G8458721A	PLCB1	NM_015192.4(PLCB1):c.246+87271G>A	noncoding	Benign
20	8646203	G	A	G8646203A	PLCB1	NM_015192.4(PLCB1):c.464+22G>A	noncoding	Benign
20	8646212	G	T	G8646212T	PLCB1	NM_015192.4(PLCB1):c.464+31G>T	noncoding	Benign
20	8646256	C	T	C8646256T	PLCB1	NM_015192.4(PLCB1):c.464+75C>T	noncoding	Benign
20	8648049	G	A	G8648049A	PLCB1	NM_015192.4(PLCB1):c.518+96G>A	noncoding	Benign
20	8649160	C	T	C8649160T	PLCB1	NM_015192.4(PLCB1):c.519-214C>T	noncoding	Benign
20	8649196	G	A	G8649196A	PLCB1	NM_015192.4(PLCB1):c.519-178G>A	noncoding	Benign
20	8649210	A	G	A8649210G	PLCB1	NM_015192.4(PLCB1):c.519-164A>G	noncoding	Benign
20	8657080	G	A	G8657080A	PLCB1	NM_015192.4(PLCB1):c.595-104G>A	noncoding	Benign
20	8657253	C	T	C8657253T	PLCB1	NM_015192.4(PLCB1):c.664C>T:p.Arg222Ter	coding	Pathogenic/Likely_pathogenic
20	8657586	A	G	A8657586G	PLCB1	NM_015192.4(PLCB1):c.695+302A>G	noncoding	Benign
20	8658796	T	C	T8658796C	PLCB1	NM_015192.4(PLCB1):c.862+92T>C	noncoding	Benign
20	8658827	C	A	C8658827A	PLCB1	NM_015192.4(PLCB1):c.862+123C>A	noncoding	Benign
20	8684671	C	T	C8684671T	PLCB1	NM_015192.4(PLCB1):c.863-261C>T	noncoding	Benign
20	8685104	C	G	C8685104G	PLCB1	NM_015192.4(PLCB1):c.1009+26C>G	noncoding	Benign
20	8685146	T	C	T8685146C	PLCB1	NM_015192.4(PLCB1):c.1009+68T>C	noncoding	Benign
20	8697398	A	G	A8697398G	PLCB1	NM_015192.4(PLCB1):c.1010-228A>G	noncoding	Benign
20	8697514	C	G	C8697514G	PLCB1	NM_015192.4(PLCB1):c.1010-112C>G	noncoding	Benign
20	8697907	C	T	C8697907T	PLCB1	NM_015192.4(PLCB1):c.1167+124C>T	noncoding	Benign
20	8708794	T	C	T8708794C	PLCB1	NM_015192.4(PLCB1):c.1250+42T>C	noncoding	Benign
20	8716075	C	T	C8716075T	PLCB1	NM_015192.4(PLCB1):c.1251-189C>T	noncoding	Benign
20	8716620	C	G	C8716620G	PLCB1	NM_015192.4(PLCB1):c.1335+272C>G	noncoding	Benign
20	8717466	A	C	A8717466C	PLCB1	NM_015192.4(PLCB1):c.1336-205A>C	noncoding	Benign
20	8717653	G	A	G8717653A	PLCB1	NM_015192.4(PLCB1):c.1336-18G>A	noncoding	Benign/Likely_benign
20	8722220	T	C	T8722220C	PLCB1	NM_015192.4(PLCB1):c.1514-134T>C	noncoding	Benign
20	8722498	C	G	C8722498G	PLCB1	NM_015192.4(PLCB1):c.1581+77C>G	noncoding	Benign
20	8722605	C	T	C8722605T	PLCB1	NM_015192.4(PLCB1):c.1581+184C>T	noncoding	Benign
20	8724849	A	C	A8724849C	PLCB1	NM_015192.4(PLCB1):c.1678+97A>C	noncoding	Benign
20	8724905	A	T	A8724905T	PLCB1	NM_015192.4(PLCB1):c.1678+153A>T	noncoding	Benign
20	8727253	A	G	A8727253G	PLCB1	NM_015192.4(PLCB1):c.1679-56A>G	noncoding	Benign
20	8727280	C	T	C8727280T	PLCB1	NM_015192.4(PLCB1):c.1679-29C>T	noncoding	Benign
20	8727292	G	A	G8727292A	PLCB1	NM_015192.4(PLCB1):c.1679-17G>A	noncoding	Benign/Likely_benign
20	8727519	A	G	A8727519G	PLCB1	NM_015192.4(PLCB1):c.1763+126A>G	noncoding	Benign
20	8727556	T	C	T8727556C	PLCB1	NM_015192.4(PLCB1):c.1763+163T>C	noncoding	Benign
20	8733195	G	A	G8733195A	PLCB1	NM_015192.4(PLCB1):c.1889-43G>A	noncoding	Benign
20	8736857	T	C	T8736857C	PLCB1	NM_015192.4(PLCB1):c.2044-171T>C	noncoding	Benign
20	8736879	A	G	A8736879G	PLCB1	NM_015192.4(PLCB1):c.2044-149A>G	noncoding	Benign
20	8737397	A	G	A8737397G	PLCB1	NM_015192.4(PLCB1):c.2208+205A>G	noncoding	Benign
20	8741450	T	G	T8741450G	PLCB1	NM_015192.4(PLCB1):c.2414-14T>G	noncoding	Benign
20	8741878	A	G	A8741878G	PLCB1	NM_015192.4(PLCB1):c.2523+305A>G	noncoding	Benign
20	8756819	A	T	A8756819T	PLCB1	NM_015192.4(PLCB1):c.2524-227A>T	noncoding	Benign
20	8756963	A	G	A8756963G	PLCB1	NM_015192.4(PLCB1):c.2524-83A>G	noncoding	Benign
20	8757444	C	A	C8757444A	PLCB1	NM_015192.4(PLCB1):c.2656+266C>A	noncoding	Benign
20	8760380	C	T	C8760380T	PLCB1	NM_015192.4(PLCB1):c.2657-27C>T	noncoding	Benign
20	8760541	A	G	A8760541G	PLCB1	NM_015192.4(PLCB1):c.2710+81A>G	noncoding	Benign
20	8760600	C	T	C8760600T	PLCB1	NM_015192.4(PLCB1):c.2710+140C>T	noncoding	Benign
20	8765121	C	T	C8765121T	PLCB1	NM_015192.4(PLCB1):c.2711-18C>T	noncoding	Benign/Likely_benign
20	8765378	T	G	T8765378G	PLCB1	NM_015192.4(PLCB1):c.2930+20T>G	noncoding	Benign
20	8765478	G	A	G8765478A	PLCB1	NM_015192.4(PLCB1):c.2930+120G>A	noncoding	Benign
20	8774336	C	A	C8774336A	PLCB1	NM_015192.4(PLCB1):c.2931-203C>A	noncoding	Benign
20	8774890	T	A	T8774890A	PLCB1	NM_015192.4(PLCB1):c.3111+171T>A	noncoding	Benign
20	8788170	T	C	T8788170C	PLCB1	NM_015192.4(PLCB1):c.3112-279T>C	noncoding	Benign
20	8788776	T	C	T8788776C	PLCB1	NM_015192.4(PLCB1):c.3278+54T>C	noncoding	Benign
20	8788874	A	C	A8788874C	PLCB1	NM_015192.4(PLCB1):c.3278+152A>C	noncoding	Benign
20	8788924	C	T	C8788924T	PLCB1	NM_015192.4(PLCB1):c.3278+202C>T	noncoding	Benign
20	8789461	A	C	A8789461C	PLCB1	NM_015192.4(PLCB1):c.3279-57A>C	noncoding	Benign
20	8789483	A	G	A8789483G	PLCB1	NM_015192.4(PLCB1):c.3279-35A>G	noncoding	Benign
20	8789635	G	A	G8789635A	PLCB1	NM_015192.4(PLCB1):c.3336+60G>A	noncoding	Benign
20	8789671	A	G	A8789671G	PLCB1	NM_015192.4(PLCB1):c.3336+96A>G	noncoding	Benign
20	8789869	T	C	T8789869C	PLCB1	NM_015192.4(PLCB1):c.3336+294T>C	noncoding	Benign
20	8790032	C	T	C8790032T	PLCB1	NM_015192.4(PLCB1):c.3337-143C>T	noncoding	Benign
20	8790285	A	C	A8790285C	PLCB1	NM_015192.4(PLCB1):c.3423+24A>C	noncoding	Benign
20	8802237	G	A	G8802237A	PLCB1	NM_015192.4(PLCB1):c.3423+11976G>A	noncoding	Benign
20	8802254	G	C	G8802254C	PLCB1	NM_015192.4(PLCB1):c.3423+11993G>C	noncoding	Benign
20	8881573	A	G	A8881573G	PLCB1	NM_015192.4(PLCB1):c.3424-49A>G	noncoding	Benign
20	9338200	G	A	G9338200A	PLCB4	NM_001377142.1(PLCB4):c.225+133G>A	noncoding	Benign
20	9362753	A	G	A9362753G	PLCB4	NM_001377142.1(PLCB4):c.370-143A>G	noncoding	Benign
20	9365555	A	G	A9365555G	PLCB4	NM_001377142.1(PLCB4):c.503+41A>G	noncoding	Benign
20	9372069	C	T	C9372069T	PLCB4	NM_001377142.1(PLCB4):c.586-234C>T	noncoding	Benign
20	9384152	A	G	A9384152G	PLCB4	NM_001377142.1(PLCB4):c.854-49A>G	noncoding	Benign
20	9384594	T	G	T9384594G	PLCB4	NM_001377142.1(PLCB4):c.1064+183T>G	noncoding	Benign
20	9390482	G	A	G9390482A	PLCB4	NM_001377142.1(PLCB4):c.1239-49G>A	noncoding	Benign
20	9393694	A	T	A9393694T	PLCB4	NM_001377142.1(PLCB4):c.1414+16A>T	noncoding	Benign
20	9393759	T	G	T9393759G	PLCB4	NM_001377142.1(PLCB4):c.1414+81T>G	noncoding	Benign
20	9395372	T	A	T9395372A	PLCB4	NM_001377142.1(PLCB4):c.1415-151T>A	noncoding	Benign
20	9401440	T	A	T9401440A	PLCB4	NM_001377142.1(PLCB4):c.1511-50T>A	noncoding	Benign
20	9405402	A	T	A9405402T	PLCB4	NM_001377142.1(PLCB4):c.1647+54A>T	noncoding	Benign
20	9407752	C	T	C9407752T	PLCB4	NM_001377142.1(PLCB4):c.1648-165C>T	noncoding	Benign
20	9407782	C	T	C9407782T	PLCB4	NM_001377142.1(PLCB4):c.1648-135C>T	noncoding	Benign
20	9408820	C	A	C9408820A	PLCB4	NM_001377142.1(PLCB4):c.1874+103C>A	noncoding	Benign
20	9408835	G	C	G9408835C	PLCB4	NM_001377142.1(PLCB4):c.1874+118G>C	noncoding	Benign
20	9408951	T	C	T9408951C	PLCB4	NM_001377142.1(PLCB4):c.1875-106T>C	noncoding	Benign
20	9409036	G	C	G9409036C	PLCB4	NM_001377142.1(PLCB4):c.1875-21G>C	noncoding	Benign
20	9409334	A	C	A9409334C	PLCB4	NM_001377142.1(PLCB4):c.1999+153A>C	noncoding	Benign
20	9409346	A	C	A9409346C	PLCB4	NM_001377142.1(PLCB4):c.1999+165A>C	noncoding	Benign
20	9421281	G	A	G9421281A	PLCB4	NM_001377142.1(PLCB4):c.2155-16G>A	noncoding	Benign
20	9435393	T	C	T9435393C	PLCB4	NM_001377142.1(PLCB4):c.2525-167T>C	noncoding	Benign
20	9437223	T	G	T9437223G	PLCB4	NM_001377142.1(PLCB4):c.2764+71T>G	noncoding	Benign
20	9437325	G	A	G9437325A	PLCB4	NM_001377142.1(PLCB4):c.2764+173G>A	noncoding	Benign
20	9437355	C	A	C9437355A	PLCB4	NM_001377142.1(PLCB4):c.2764+203C>A	noncoding	Benign
20	9444031	G	C	G9444031C	PLCB4	NM_001377142.1(PLCB4):c.2814+1G>C	coding	Pathogenic
20	9457291	A	G	A9457291G	PLCB4	NM_001377142.1(PLCB4):c.2997-123A>G	noncoding	Benign
20	9457525	A	G	A9457525G	PLCB4	NM_001377142.1(PLCB4):c.3072+36A>G	noncoding	Benign
20	9468346	A	C	A9468346C	PLCB4	NM_001377142.1(PLCB4):c.3249-225A>C	noncoding	Benign
20	9468353	T	G	T9468353G	PLCB4	NM_001377142.1(PLCB4):c.3249-218T>G	noncoding	Benign
20	9468812	C	T	C9468812T	PLCB4	NM_001377142.1(PLCB4):c.3350+140C>T	noncoding	Benign
20	9472920	T	C	T9472920C	PLCB4	NM_001377142.1(PLCB4):c.3408+73T>C	noncoding	Benign
20	9473091	T	G	T9473091G	PLCB4	NM_001377142.1(PLCB4):c.3409-188T>G	noncoding	Benign
20	9473252	G	A	G9473252A	PLCB4	NM_001377142.1(PLCB4):c.3409-27G>A	noncoding	Benign
20	9473255	T	A	T9473255A	PLCB4	NM_001377142.1(PLCB4):c.3409-24T>A	noncoding	Benign
20	9476523	C	T	C9476523T	PLCB4	NM_001377142.1(PLCB4):c.3496-194C>T	noncoding	Benign
20	9565907	G	A	G9565907A	PAK5	NM_177990.4(PAK5):c.1468C>T:p.Leu490=	coding	Benign
20	10244102	G	A	G10244102A	SNAP25	NM_130811.4(SNAP25):c.-64+25125G>A	noncoding	Benign
20	10275517	A	G	A10275517G	SNAP25	NM_130811.4(SNAP25):c.26A>G:p.Asn9Ser	coding	Benign
20	10275604	G	T	G10275604T	SNAP25	NM_130811.4(SNAP25):c.72+41G>T	noncoding	Benign
20	10277879	A	G	A10277879G	SNAP25	NM_130811.4(SNAP25):c.114+153A>G	noncoding	Benign
20	10278006	C	A	C10278006A	SNAP25	NM_130811.4(SNAP25):c.114+280C>A	noncoding	Benign
20	10278036	A	T	A10278036T	SNAP25	NM_130811.4(SNAP25):c.114+310A>T	noncoding	Benign
20	10284532	A	T	A10284532T	SNAP25	NM_130811.4(SNAP25):c.115-192A>T	noncoding	Benign
20	10284709	A	G	A10284709G	SNAP25	NM_130811.4(SNAP25):c.115-15A>G	noncoding	Benign
20	10293294	C	T	C10293294T	SNAP25	NM_130811.4(SNAP25):c.281+16C>T	noncoding	Benign
20	10296804	A	C	A10296804C	SNAP25	NM_130811.4(SNAP25):c.282-121A>C	noncoding	Benign
20	10298948	G	C	G10298948C	SNAP25	NM_130811.4(SNAP25):c.408-320G>C	noncoding	Benign
20	10298963	C	T	C10298963T	SNAP25	NM_130811.4(SNAP25):c.408-305C>T	noncoding	Benign
20	10299149	G	A	G10299149A	SNAP25	NM_130811.4(SNAP25):c.408-119G>A	noncoding	Benign
20	10299389	C	T	C10299389T	SNAP25	NM_130811.4(SNAP25):c.529C>T:p.Gln177Ter	coding	Pathogenic
20	10299415	G	T	G10299415T	SNAP25	NM_130811.4(SNAP25):c.552+3G>T	noncoding	Benign/Likely_benign
20	10299435	G	A	G10299435A	SNAP25	NM_130811.4(SNAP25):c.552+23G>A	noncoding	Benign
20	10306172	C	A	C10306172A	SNAP25	NM_130811.4(SNAP25):c.596C>A:p.Ala199Glu	coding	Pathogenic
20	10306436	G	T	G10306436T	SNAP25	NM_130811.4(SNAP25):c.*239G>T	noncoding	Benign
20	10306440	T	C	T10306440C	SNAP25	NM_130811.4(SNAP25):c.*243T>C	noncoding	Benign
20	10405524	G	C	G10405524C	MKKS	NM_170784.3(MKKS):c.1436C>G:p.Ser479Ter	coding	Pathogenic
20	10407422	C	T	C10407422T	MKKS	NM_170784.3(MKKS):c.1272+194G>A	noncoding	Benign
20	10407858	G	A	G10407858A	MKKS	NM_170784.3(MKKS):c.1162-132C>T	noncoding	Benign
20	10408570	T	C	T10408570C	MKKS	NM_170784.3(MKKS):c.1161+58A>G	noncoding	Benign
20	10408776	G	T	G10408776T	MKKS	NM_170784.3(MKKS):c.1013C>A:p.Ser338Ter	coding	Pathogenic
20	10408804	C	T	C10408804T	MKKS	NM_170784.3(MKKS):c.986-1G>A	coding	Pathogenic
20	10412767	C	T	C10412767T	MKKS	NM_170784.3(MKKS):c.748G>A:p.Gly250Arg	coding	Pathogenic
20	10412839	G	A	G10412839A	MKKS	NM_170784.3(MKKS):c.676C>T:p.Gln226Ter	coding	Pathogenic
20	10413265	G	A	G10413265A	MKKS	NM_170784.3(MKKS):c.250C>T:p.His84Tyr	coding	Pathogenic
20	10640525	C	A	C10640525A	JAG1	NM_000214.3(JAG1):c.3199+258G>T	noncoding	Benign
20	10640565	C	T	C10640565T	JAG1	NM_000214.3(JAG1):c.3199+218G>A	noncoding	Benign
20	10640657	A	C	A10640657C	JAG1	NM_000214.3(JAG1):c.3199+126T>G	noncoding	Benign
20	10640810	G	A	G10640810A	JAG1	NM_000214.3(JAG1):c.3172C>T:p.Gln1058Ter	coding	Pathogenic
20	10640841	C	T	C10640841T	JAG1	NM_000214.3(JAG1):c.3141G>A:p.Ser1047=	coding	Benign/Likely_benign
20	10640882	T	A	T10640882A	JAG1	NM_000214.3(JAG1):c.3100A>T:p.Lys1034Ter	coding	Pathogenic
20	10640935	T	C	T10640935C	JAG1	NM_000214.3(JAG1):c.3049-2A>G	noncoding	Pathogenic
20	10641064	G	A	G10641064A	JAG1	NM_000214.3(JAG1):c.3048+49C>T	noncoding	Benign
20	10641093	T	C	T10641093C	JAG1	NM_000214.3(JAG1):c.3048+20A>G	noncoding	Benign
20	10641154	C	A	C10641154A	JAG1	NM_000214.3(JAG1):c.3007G>T:p.Glu1003Ter	coding	Pathogenic
20	10641245	C	A	C10641245A	JAG1	NM_000214.3(JAG1):c.2917-1G>T	coding	Pathogenic
20	10641274	T	C	T10641274C	JAG1	NM_000214.3(JAG1):c.2917-30A>G	noncoding	Benign/Likely_benign
20	10641513	G	A	G10641513A	JAG1	NM_000214.3(JAG1):c.2863C>T:p.Gln955Ter	coding	Pathogenic
20	10641678	G	A	G10641678A	JAG1	NM_000214.3(JAG1):c.2698C>T:p.Arg900Ter	coding	Pathogenic
20	10641815	G	A	G10641815A	JAG1	NM_000214.3(JAG1):c.2650C>T:p.Gln884Ter	coding	Pathogenic
20	10641838	C	T	C10641838T	JAG1	NM_000214.3(JAG1):c.2627G>A:p.Trp876Ter	coding	Pathogenic
20	10641869	T	C	T10641869C	JAG1	NM_000214.3(JAG1):c.2596A>G:p.Met866Val	coding	Benign
20	10641908	G	A	G10641908A	JAG1	NM_000214.3(JAG1):c.2573-16C>T	noncoding	Benign/Likely_benign
20	10642186	G	T	G10642186T	JAG1	NM_000214.3(JAG1):c.2573-294C>A	noncoding	Benign
20	10642214	C	T	C10642214T	JAG1	NM_000214.3(JAG1):c.2572+274G>A	noncoding	Benign
20	10642371	T	C	T10642371C	JAG1	NM_000214.3(JAG1):c.2572+117A>G	noncoding	Benign
20	10642441	C	T	C10642441T	JAG1	NM_000214.3(JAG1):c.2572+47G>A	noncoding	Benign
20	10642614	G	A	G10642614A	JAG1	NM_000214.3(JAG1):c.2459-13C>T	noncoding	Benign
20	10642690	A	C	A10642690C	JAG1	NM_000214.3(JAG1):c.2459-89T>G	noncoding	Benign
20	10642700	A	T	A10642700T	JAG1	NM_000214.3(JAG1):c.2459-99T>A	noncoding	Benign
20	10643542	A	G	A10643542G	JAG1	NM_000214.3(JAG1):c.2458+236T>C	noncoding	Benign
20	10643635	C	T	C10643635T	JAG1	NM_000214.3(JAG1):c.2458+143G>A	noncoding	Benign
20	10643654	C	A	C10643654A	JAG1	NM_000214.3(JAG1):c.2458+124G>T	noncoding	Benign
20	10643716	G	A	G10643716A	JAG1	NM_000214.3(JAG1):c.2458+62C>T	noncoding	Benign
20	10643750	G	A	G10643750A	JAG1	NM_000214.3(JAG1):c.2458+28C>T	noncoding	Benign
20	10643777	C	T	C10643777T	JAG1	NM_000214.3(JAG1):c.2458+1G>A	noncoding	Pathogenic
20	10643824	G	T	G10643824T	JAG1	NM_000214.3(JAG1):c.2412C>A:p.Tyr804Ter	coding	Pathogenic
20	10644280	A	T	A10644280T	JAG1	NM_000214.3(JAG1):c.2372+77T>A	noncoding	Benign
20	10644342	G	A	G10644342A	JAG1	NM_000214.3(JAG1):c.2372+15C>T	noncoding	Benign
20	10644356	C	A	C10644356A	JAG1	NM_000214.3(JAG1):c.2372+1G>T	noncoding	Pathogenic
20	10644371	G	T	G10644371T	JAG1	NM_000214.3(JAG1):c.2358C>A:p.Cys786Ter	coding	Pathogenic
20	10644460	T	C	T10644460C	JAG1	NM_000214.3(JAG1):c.2345-76A>G	noncoding	Benign
20	10645047	C	T	C10645047T	JAG1	NM_000214.3(JAG1):c.2228-68G>A	noncoding	Benign
20	10645093	C	G	C10645093G	JAG1	NM_000214.3(JAG1):c.2227+50G>C	noncoding	Benign
20	10645105	C	T	C10645105T	JAG1	NM_000214.3(JAG1):c.2227+38G>A	noncoding	Benign
20	10645126	G	A	G10645126A	JAG1	NM_000214.3(JAG1):c.2227+17C>T	noncoding	Benign
20	10645161	C	A	C10645161A	JAG1	NM_000214.3(JAG1):c.2209G>T:p.Gly737Ter	coding	Pathogenic
20	10645231	C	T	C10645231T	JAG1	NM_000214.3(JAG1):c.2139G>A:p.Thr713=	coding	Benign
20	10645274	A	G	A10645274G	JAG1	NM_000214.3(JAG1):c.2114-18T>C	noncoding	Benign
20	10645589	G	A	G10645589A	JAG1	NM_000214.3(JAG1):c.2000-120C>T	noncoding	Benign
20	10646022	A	G	A10646022G	JAG1	NM_000214.3(JAG1):c.1948T>C:p.Ser650Pro	coding	Pathogenic
20	10646898	G	A	G10646898A	JAG1	NM_000214.3(JAG1):c.1885+41C>T	noncoding	Benign
20	10646946	G	T	G10646946T	JAG1	NM_000214.3(JAG1):c.1878C>A:p.Cys626Ter	coding	Pathogenic
20	10647027	A	G	A10647027G	JAG1	NM_000214.3(JAG1):c.1797T>C:p.Cys599=	coding	Benign/Likely_benign
20	10647045	A	T	A10647045T	JAG1	NM_000214.3(JAG1):c.1779T>A:p.Tyr593Ter	coding	Pathogenic
20	10647093	G	C	G10647093C	JAG1	NM_000214.3(JAG1):c.1731C>G:p.Ser577Arg	coding	Pathogenic
20	10647124	C	T	C10647124T	JAG1	NM_000214.3(JAG1):c.1721-21G>A	noncoding	Benign
20	10647973	C	T	C10647973T	JAG1	NM_000214.3(JAG1):c.1707G>A:p.Thr569=	coding	Benign/Likely_benign
20	10648014	C	A	C10648014A	JAG1	NM_000214.3(JAG1):c.1666G>T:p.Glu556Ter	coding	Pathogenic
20	10648027	G	T	G10648027T	JAG1	NM_000214.3(JAG1):c.1653C>A:p.Cys551Ter	coding	Pathogenic
20	10648130	C	T	C10648130T	JAG1	NM_000214.3(JAG1):c.1570-20G>A	noncoding	Benign
20	10648138	G	C	G10648138C	JAG1	NM_000214.3(JAG1):c.1570-28C>G	noncoding	Benign/Likely_benign
20	10648183	G	C	G10648183C	JAG1	NM_000214.3(JAG1):c.1570-73C>G	noncoding	Benign
20	10648246	A	T	A10648246T	JAG1	NM_000214.3(JAG1):c.1570-136T>A	noncoding	Benign
20	10648481	A	C	A10648481C	JAG1	NM_000214.3(JAG1):c.1569+68T>G	noncoding	Benign
20	10648502	G	A	G10648502A	JAG1	NM_000214.3(JAG1):c.1569+47C>T	noncoding	Benign
20	10648804	G	A	G10648804A	JAG1	NM_000214.3(JAG1):c.1396-82C>T	noncoding	Benign
20	10648877	T	C	T10648877C	JAG1	NM_000214.3(JAG1):c.1396-155A>G	noncoding	Benign
20	10648980	A	C	A10648980C	JAG1	NM_000214.3(JAG1):c.1395+81T>G	noncoding	Benign
20	10649067	G	A	G10649067A	JAG1	NM_000214.3(JAG1):c.1389C>T:p.Ser463=	coding	Benign/Likely_benign
20	10649087	G	A	G10649087A	JAG1	NM_000214.3(JAG1):c.1369C>T:p.Gln457Ter	coding	Pathogenic
20	10649166	T	G	T10649166G	JAG1	NM_000214.3(JAG1):c.1349-59A>C	noncoding	Benign
20	10649224	T	G	T10649224G	JAG1	NM_000214.3(JAG1):c.1349-117A>C	noncoding	Benign
20	10649562	G	T	G10649562T	JAG1	NM_000214.3(JAG1):c.1308C>A:p.Cys436Ter	coding	Pathogenic
20	10649722	G	T	G10649722T	JAG1	NM_000214.3(JAG1):c.1235-87C>A	noncoding	Benign
20	10650253	G	A	G10650253A	JAG1	NM_000214.3(JAG1):c.1228C>T:p.Gln410Ter	coding	Pathogenic
20	10650325	C	T	C10650325T	JAG1	NM_000214.3(JAG1):c.1156G>A:p.Gly386Arg	coding	Pathogenic
20	10651639	G	A	G10651639A	JAG1	NM_000214.3(JAG1):c.1062C>T:p.Thr354=	coding	Benign/Likely_benign
20	10651696	T	C	T10651696C	JAG1	NM_000214.3(JAG1):c.1007-2A>G	noncoding	Pathogenic
20	10652153	A	C	A10652153C	JAG1	NM_000214.3(JAG1):c.984T>G:p.Tyr328Ter	coding	Pathogenic
20	10652201	A	T	A10652201T	JAG1	NM_000214.3(JAG1):c.936T>A:p.Cys312Ter	coding	Pathogenic
20	10652308	T	C	T10652308C	JAG1	NM_000214.3(JAG1):c.887-58A>G	noncoding	Benign
20	10652449	T	A	T10652449A	JAG1	NM_000214.3(JAG1):c.886+19A>T	noncoding	Benign/Likely_benign
20	10652571	G	C	G10652571C	JAG1	NM_000214.3(JAG1):c.783C>G:p.Tyr261Ter	coding	Pathogenic
20	10652583	C	T	C10652583T	JAG1	NM_000214.3(JAG1):c.771G>A:p.Trp257Ter	coding	Pathogenic
20	10652665	T	C	T10652665C	JAG1	NM_000214.3(JAG1):c.756-67A>G	noncoding	Benign
20	10656111	A	G	A10656111G	JAG1	NM_000214.3(JAG1):c.755+287T>C	noncoding	Benign
20	10656284	T	A	T10656284A	JAG1	NM_000214.3(JAG1):c.755+114A>T	noncoding	Benign
20	10656285	A	T	A10656285T	JAG1	NM_000214.3(JAG1):c.755+113T>A	noncoding	Benign
20	10656347	C	T	C10656347T	JAG1	NM_000214.3(JAG1):c.755+51G>A	noncoding	Benign
20	10656689	T	G	T10656689G	JAG1	NM_000214.3(JAG1):c.695-231A>C	noncoding	Benign
20	10658198	G	T	G10658198T	JAG1	NM_000214.3(JAG1):c.694+270C>A	noncoding	Benign
20	10658347	A	G	A10658347G	JAG1	NM_000214.3(JAG1):c.694+121T>C	noncoding	Benign
20	10658413	T	C	T10658413C	JAG1	NM_000214.3(JAG1):c.694+55A>G	noncoding	Benign
20	10658442	G	A	G10658442A	JAG1	NM_000214.3(JAG1):c.694+26C>T	noncoding	Benign
20	10658480	C	A	C10658480A	JAG1	NM_000214.3(JAG1):c.682G>T:p.Glu228Ter	coding	Pathogenic
20	10658540	C	A	C10658540A	JAG1	NM_000214.3(JAG1):c.622G>T:p.Gly208Ter	coding	Pathogenic
20	10658744	A	C	A10658744C	JAG1	NM_000214.3(JAG1):c.440-22T>G	noncoding	Benign
20	10658895	G	A	G10658895A	JAG1	NM_000214.3(JAG1):c.440-173C>T	noncoding	Benign/Likely_benign
20	10663877	A	G	A10663877G	JAG1	NM_000214.3(JAG1):c.439+86T>C	noncoding	Benign
20	10663988	C	T	C10663988T	JAG1	NM_000214.3(JAG1):c.414G>A:p.Ala138=	coding	Benign/Likely_benign
20	10664163	G	A	G10664163A	JAG1	NM_000214.3(JAG1):c.388-149C>T	noncoding	Benign
20	10672584	C	A	C10672584A	JAG1	NM_000214.3(JAG1):c.387+117G>T	noncoding	Benign
20	10672704	C	T	C10672704T	JAG1	NM_000214.3(JAG1):c.384G>A:p.Trp128Ter	coding	Pathogenic
20	10672923	G	T	G10672923T	JAG1	NM_000214.3(JAG1):c.165C>A:p.Cys55Ter	coding	Pathogenic
20	10672983	G	A	G10672983A	JAG1	NM_000214.3(JAG1):c.105C>T:p.Phe35=	coding	Benign/Likely_benign
20	10672990	C	A	C10672990A	JAG1	NM_000214.3(JAG1):c.98G>T:p.Gly33Val	coding	Pathogenic
20	10672993	G	T	G10672993T	JAG1	NM_000214.3(JAG1):c.95C>A:p.Ser32Ter	coding	Pathogenic
20	10673091	G	A	G10673091A	JAG1	NM_000214.3(JAG1):c.82-85C>T	noncoding	Benign
20	10674110	T	G	T10674110G	JAG1	Single_allele	noncoding	Benign
20	10674216	C	T	C10674216T	JAG1	Single_allele	noncoding	Benign
20	10674275	C	G	C10674275G	JAG1	Single_allele	noncoding	Benign
20	11923006	G	A	G11923006A	BTBD3	NM_014962.4(BTBD3):c.909G>A:p.Ala303=	coding	Benign
20	13785213	C	G	C13785213G	NDUFAF5	NM_024120.5(NDUFAF5):c.145C>G:p.Arg49Gly	coding	Pathogenic
20	13786405	A	C	A13786405C	NDUFAF5	NM_024120.5(NDUFAF5):c.223-907A>C	noncoding	Pathogenic
20	13787196	T	C	T13787196C	NDUFAF5	NM_024120.5(NDUFAF5):c.223-116T>C	noncoding	Benign
20	13787297	C	T	C13787297T	NDUFAF5	NM_024120.5(NDUFAF5):c.223-15C>T	noncoding	Benign
20	13788481	A	G	A13788481G	NDUFAF5	NM_024120.5(NDUFAF5):c.264-108A>G	noncoding	Benign
20	13793243	A	G	A13793243G	NDUFAF5	NM_024120.5(NDUFAF5):c.375+16A>G	noncoding	Benign/Likely_benign
20	13795226	T	C	T13795226C	NDUFAF5	NM_024120.5(NDUFAF5):c.479+285T>C	noncoding	Benign
20	13798197	A	C	A13798197C	NDUFAF5	NM_024120.5(NDUFAF5):c.480-264A>C	noncoding	Benign
20	13801754	G	A	G13801754A	NDUFAF5	NM_024120.5(NDUFAF5):c.717+71G>A	noncoding	Benign
20	13801763	A	G	A13801763G	NDUFAF5	NM_024120.5(NDUFAF5):c.717+80A>G	noncoding	Benign
20	13801809	C	T	C13801809T	NDUFAF5	NM_024120.5(NDUFAF5):c.717+126C>T	noncoding	Benign
20	14326127	T	G	T14326127G	FLRT3	NM_198391.3(FLRT3):c.1380A>C:p.Glu460Asp	coding	Benign
20	14326250	G	A	G14326250A	FLRT3	NM_198391.3(FLRT3):c.1257C>T:p.Thr419=	coding	Benign
20	14326307	G	T	G14326307T	FLRT3	NM_198391.3(FLRT3):c.1200C>A:p.His400Gln	coding	Benign
20	14326373	T	G	T14326373G	FLRT3	NM_198391.3(FLRT3):c.1134A>C:p.Gln378His	coding	Benign/Likely_benign
20	14326378	C	T	C14326378T	MACROD2;FLRT3	NM_198391.3(FLRT3):c.1129G>A:p.Ala377Thr	coding	Benign/Likely_benign
20	17494045	T	G	T17494045G	BFSP1	NM_001195.5(BFSP1):c.*29A>C	noncoding	Benign
20	17494065	C	G	C17494065G	BFSP1	NM_001195.5(BFSP1):c.*9G>C	noncoding	Benign
20	17497106	A	G	A17497106G	BFSP1	NM_001195.5(BFSP1):c.957-83T>C	noncoding	Benign
20	17497220	C	T	C17497220T	BFSP1	NM_001195.5(BFSP1):c.957-197G>A	noncoding	Benign
20	17497298	C	T	C17497298T	BFSP1	NM_001195.5(BFSP1):c.957-275G>A	noncoding	Benign
20	17498659	G	A	G17498659A	BFSP1	NM_001195.5(BFSP1):c.956+161C>T	noncoding	Benign
20	17498775	T	C	T17498775C	BFSP1	NM_001195.5(BFSP1):c.956+45A>G	noncoding	Benign
20	17499056	C	T	C17499056T	BFSP1	NM_001195.5(BFSP1):c.736-16G>A	noncoding	Benign
20	17499085	T	C	T17499085C	BFSP1	NM_001195.5(BFSP1):c.736-45A>G	noncoding	Benign
20	17499118	T	C	T17499118C	BFSP1	NM_001195.5(BFSP1):c.736-78A>G	noncoding	Benign
20	17508555	T	C	T17508555C	BFSP1	NM_001195.5(BFSP1):c.735+334A>G	noncoding	Benign
20	17508599	G	A	G17508599A	BFSP1	NM_001195.5(BFSP1):c.735+290C>T	noncoding	Benign
20	17508768	C	A	C17508768A	BFSP1	NM_001195.5(BFSP1):c.735+121G>T	noncoding	Benign
20	17508828	C	T	C17508828T	BFSP1	NM_001195.5(BFSP1):c.735+61G>A	noncoding	Benign
20	17509088	G	A	G17509088A	BFSP1	NM_001195.5(BFSP1):c.628-92C>T	noncoding	Benign
20	17509274	G	T	G17509274T	BFSP1	NM_001195.5(BFSP1):c.628-278C>A	noncoding	Benign
20	17509298	G	A	G17509298A	BFSP1	NM_001195.5(BFSP1):c.628-302C>T	noncoding	Benign
20	17512110	C	T	C17512110T	BFSP1	NM_001195.5(BFSP1):c.535-42G>A	noncoding	Benign
20	17514535	A	G	A17514535G	BFSP1	NM_001195.5(BFSP1):c.534+186T>C	noncoding	Benign
20	17515041	C	T	C17515041T	BFSP1	NM_001195.5(BFSP1):c.439-225G>A	noncoding	Benign
20	17524581	C	T	C17524581T	BFSP1	NM_001195.5(BFSP1):c.438+267G>A	noncoding	Benign
20	17558457	G	A	G17558457A	BFSP1	NM_001161705.2(BFSP1):c.2+231C>T	noncoding	Benign
20	17558523	A	G	A17558523G	BFSP1	NM_001161705.2(BFSP1):c.2+165T>C	noncoding	Benign
20	17559213	A	G	A17559213G	BFSP1	NM_001278608.2(BFSP1):c.-41+1144T>C	noncoding	Benign
20	17970494	G	C	G17970494C	MGME1	NM_052865.4(MGME1):c.511+124G>C	noncoding	Benign
20	17975937	G	A	G17975937A	MGME1	NM_052865.4(MGME1):c.731+34G>A	noncoding	Benign
20	17988237	A	T	A17988237T	MGME1	NM_052865.4(MGME1):c.803A>T:p.Asn268Ile	coding	Benign/Likely_benign
20	17990233	G	T	G17990233T	MGME1	NM_052865.4(MGME1):c.*124G>T	noncoding	Benign
20	18024956	A	C	A18024956C	OVOL2	NM_021220.4(OVOL2):c.512-4T>G	noncoding	Benign
20	18041527	C	T	C18041527T	OVOL2	NM_021220.4(OVOL2):c.511+7G>A	noncoding	Benign
20	18473413	C	T	C18473413T	POLR3F	NM_006466.4(POLR3F):c.271C>T:p.Gln91Ter	coding	Pathogenic
20	18507421	G	C	G18507421C	SEC23B	NM_006363.4(SEC23B):c.-566G>C	noncoding	Benign
20	18508110	G	C	G18508110C	SEC23B	NM_006363.6(SEC23B):c.-15+138G>C	noncoding	Benign
20	18511132	A	G	A18511132G	SEC23B	NM_006363.6(SEC23B):c.221+76A>G	noncoding	Benign/Likely_benign
20	18511284	A	G	A18511284G	SEC23B	NM_006363.6(SEC23B):c.221+228A>G	noncoding	Benign
20	18511407	A	G	A18511407G	SEC23B	NM_006363.6(SEC23B):c.221+351A>G	noncoding	Benign
20	18511867	C	T	C18511867T	SEC23B	NM_006363.6(SEC23B):c.222-358C>T	noncoding	Benign
20	18524416	T	C	T18524416C	SEC23B	NM_006363.6(SEC23B):c.367-17T>C	noncoding	Benign
20	18524433	C	T	C18524433T	SEC23B	NM_006363.6(SEC23B):c.367C>T:p.Arg123Ter	coding	Pathogenic
20	18525253	T	C	T18525253C	SEC23B	NM_006363.6(SEC23B):c.689+233T>C	noncoding	Benign
20	18525483	A	G	A18525483G	SEC23B	NM_006363.6(SEC23B):c.690-305A>G	noncoding	Benign
20	18525515	T	C	T18525515C	SEC23B	NM_006363.6(SEC23B):c.690-273T>C	noncoding	Benign
20	18525972	T	C	T18525972C	SEC23B	NM_006363.6(SEC23B):c.834+40T>C	noncoding	Benign
20	18525973	G	A	G18525973A	SEC23B	NM_006363.6(SEC23B):c.834+41G>A	noncoding	Benign
20	18526033	C	T	C18526033T	SEC23B	NM_006363.6(SEC23B):c.834+101C>T	noncoding	Benign
20	18526048	A	G	A18526048G	SEC23B	NM_006363.6(SEC23B):c.834+116A>G	noncoding	Benign/Likely_benign
20	18526181	C	G	C18526181G	SEC23B	NM_006363.6(SEC23B):c.835-192C>G	noncoding	Benign
20	18527660	A	G	A18527660G	SEC23B	NM_006363.6(SEC23B):c.1109+49A>G	noncoding	Benign
20	18531028	T	C	T18531028C	SEC23B	NM_006363.6(SEC23B):c.1233+225T>C	noncoding	Benign
20	18532888	C	T	C18532888T	SEC23B	NM_006363.6(SEC23B):c.1314+144C>T	noncoding	Benign
20	18532961	C	T	C18532961T	SEC23B	NM_006363.6(SEC23B):c.1314+217C>T	noncoding	Benign
20	18535442	T	C	T18535442C	SEC23B	NM_006363.6(SEC23B):c.1315-211T>C	noncoding	Benign
20	18535944	T	C	T18535944C	SEC23B	NM_006363.6(SEC23B):c.1404+202T>C	noncoding	Benign
20	18542015	G	A	G18542015A	SEC23B	NM_006363.6(SEC23B):c.1405-281G>A	noncoding	Benign
20	18543068	C	T	C18543068T	SEC23B	NM_006363.6(SEC23B):c.1561C>T:p.Gln521Ter	coding	Pathogenic
20	18543110	C	T	C18543110T	SEC23B	NM_006363.6(SEC23B):c.1603C>T:p.Arg535Ter	coding	Pathogenic
20	18543220	C	T	C18543220T	SEC23B	NM_006363.6(SEC23B):c.1665+48C>T	noncoding	Benign
20	18543314	G	T	G18543314T	SEC23B	NM_006363.6(SEC23B):c.1665+142G>T	noncoding	Benign
20	18543383	A	G	A18543383G	SEC23B	NM_006363.6(SEC23B):c.1665+211A>G	noncoding	Benign
20	18545808	G	C	G18545808C	SEC23B	NM_006363.6(SEC23B):c.1666-148G>C	noncoding	Benign
20	18548337	C	A	C18548337A	SEC23B	NM_006363.6(SEC23B):c.1744-272C>A	noncoding	Benign
20	18548463	G	C	G18548463C	SEC23B	NM_006363.6(SEC23B):c.1744-146G>C	noncoding	Benign
20	18550855	G	C	G18550855C	SEC23B	NM_006363.6(SEC23B):c.1906-234G>C	noncoding	Benign
20	18554219	G	A	G18554219A	SEC23B	NM_006363.6(SEC23B):c.1993-16G>A	noncoding	Benign
20	18554858	T	C	T18554858C	SEC23B	NM_006363.6(SEC23B):c.2149-250T>C	noncoding	Benign
20	18555338	A	G	A18555338G	SEC23B	NM_006363.6(SEC23B):c.2214+165A>G	noncoding	Benign
20	18555448	T	G	T18555448G	SEC23B	NM_006363.6(SEC23B):c.2214+275T>G	noncoding	Benign
20	18560453	A	G	A18560453G	SEC23B	NM_006363.6(SEC23B):c.2215-198A>G	noncoding	Benign
20	19886612	C	T	C19886612T	RIN2	NM_018993.4(RIN2):c.-36-2954C>T	noncoding	Benign
20	19889336	G	A	G19889336A	RIN2	NM_018993.4(RIN2):c.-36-230G>A	noncoding	Benign
20	19889341	T	C	T19889341C	RIN2	NM_018993.4(RIN2):c.-36-225T>C	noncoding	Benign
20	19889676	T	C	T19889676C	RIN2	NM_018993.4(RIN2):c.57+18T>C	noncoding	Benign/Likely_benign
20	19889681	A	T	A19889681T	RIN2	NM_018993.4(RIN2):c.57+23A>T	noncoding	Benign
20	19935125	C	T	C19935125T	RIN2	NM_018993.4(RIN2):c.84C>T:p.Ile28=	coding	Benign/Likely_benign
20	19935500	T	C	T19935500C	RIN2	NM_018993.4(RIN2):c.158+301T>C	noncoding	Benign
20	19960775	C	T	C19960775T	RIN2	NM_018993.4(RIN2):c.427C>T:p.Pro143Ser	coding	Benign
20	19960823	T	C	T19960823C	RIN2	NM_018993.4(RIN2):c.463+12T>C	noncoding	Benign/Likely_benign
20	19960894	A	T	A19960894T	RIN2	NM_018993.4(RIN2):c.463+83A>T	noncoding	Benign
20	19964849	T	C	T19964849C	RIN2	NM_018993.4(RIN2):c.464-103T>C	noncoding	Benign
20	19965221	G	T	G19965221T	RIN2	NM_018993.4(RIN2):c.536+197G>T	noncoding	Benign
20	19971016	C	T	C19971016T	RIN2	NM_018993.4(RIN2):c.628+87C>T	noncoding	Benign
20	19971178	G	A	G19971178A	RIN2	NM_018993.4(RIN2):c.628+249G>A	noncoding	Benign
20	19974635	C	T	C19974635T	RIN2	NM_018993.4(RIN2):c.629-19C>T	noncoding	Benign
20	19974829	C	T	C19974829T	RIN2	NM_018993.4(RIN2):c.804C>T:p.Ala268=	coding	Benign
20	19990270	G	A	G19990270A	RIN2	NM_018993.4(RIN2):c.2027G>A:p.Arg676Gln	coding	Benign
20	19990343	G	A	G19990343A	RIN2	NM_018993.4(RIN2):c.2068+32G>A	noncoding	Benign
20	19990468	G	A	G19990468A	RIN2	NM_018993.4(RIN2):c.2068+157G>A	noncoding	Benign
20	19996632	G	A	G19996632A	RIN2	NM_018993.4(RIN2):c.2201-47G>A	noncoding	Benign
20	19996750	C	T	C19996750T	RIN2	NM_018993.4(RIN2):c.2272C>T:p.Arg758Ter	coding	Pathogenic
20	19996833	C	T	C19996833T	RIN2	NM_018993.4(RIN2):c.2355C>T:p.Asp785=	coding	Benign
20	20025758	A	G	A20025758G	NAA20	NM_016100.5(NAA20):c.160A>G:p.Met54Val	coding	Pathogenic
20	20026853	C	T	C20026853T	NAA20	NM_016100.5(NAA20):c.239C>T:p.Ala80Val	coding	Pathogenic
20	21126179	C	T	C21126179T	KIZ	NM_018474.6(KIZ):c.64C>T:p.Gln22Ter	coding	Pathogenic
20	21136463	C	T	C21136463T	KIZ	NM_018474.6(KIZ):c.226C>T:p.Arg76Ter	coding	Pathogenic
20	21145553	C	G	C21145553G	KIZ	NM_018474.6(KIZ):c.316-12C>G	noncoding	Benign
20	21161882	C	G	C21161882G	KIZ	NM_018474.6(KIZ):c.417C>G:p.His139Gln	coding	Benign
20	21162048	C	T	C21162048T	KIZ	NM_018474.6(KIZ):c.583C>T:p.Arg195Ter	coding	Pathogenic/Likely_pathogenic
20	21162060	C	T	C21162060T	KIZ	NM_018474.6(KIZ):c.595C>T:p.Gln199Ter	coding	Pathogenic
20	21162172	T	C	T21162172C	KIZ	NM_018474.6(KIZ):c.707T>C:p.Met236Thr	coding	Benign
20	21162357	G	A	G21162357A	KIZ	NM_018474.6(KIZ):c.892G>A:p.Gly298Arg	coding	Benign
20	21162379	C	A	C21162379A	KIZ	NM_018474.6(KIZ):c.914C>A:p.Thr305Lys	coding	Benign
20	21162489	C	G	C21162489G	KIZ	NM_018474.6(KIZ):c.1024C>G:p.Pro342Ala	coding	Benign
20	21163138	C	G	C21163138G	KIZ	NM_018474.6(KIZ):c.1331C>G:p.Ser444Cys	coding	Benign
20	21205516	G	A	G21205516A	KIZ	NM_018474.6(KIZ):c.1378G>A:p.Val460Ile	coding	Benign
20	21205521	G	A	G21205521A	KIZ	NM_018474.6(KIZ):c.1383G>A:p.Pro461=	coding	Benign
20	21232723	G	A	G21232723A	KIZ	NM_018474.6(KIZ):c.1784-11G>A	noncoding	Benign
20	21244225	A	T	A21244225T	KIZ	NM_018474.6(KIZ):c.1881-20A>T	noncoding	Benign
20	21512380	C	G	C21512380G	NKX2-2	NM_002509.4(NKX2-2):c.365G>C:p.Gly122Ala	coding	Benign
20	21513137	C	A	C21513137A	NKX2-2	NM_002509.4(NKX2-2):c.259+274G>T	noncoding	Benign
20	21513546	C	T	C21513546T	NKX2-2	NM_002509.4(NKX2-2):c.124G>A:p.Ala42Thr	coding	Benign
20	21513575	G	A	G21513575A	NKX2-2	NM_002509.4(NKX2-2):c.95C>T:p.Pro32Leu	coding	Benign
20	21513744	C	T	C21513744T	NKX2-2	NM_002509.4(NKX2-2):c.-75G>A	noncoding	Benign
20	21705744	C	T	C21705744T	PAX1	NM_001257096.2(PAX1):c.32C>T:p.Ala11Val	coding	Benign
20	21705759	G	A	G21705759A	PAX1	NM_001257096.2(PAX1):c.47G>A:p.Trp16Ter	coding	Pathogenic
20	21705810	T	C	T21705810C	PAX1	NM_001257096.2(PAX1):c.98T>C:p.Leu33Pro	coding	Benign
20	21705824	C	T	C21705824T	PAX1	NM_001257096.2(PAX1):c.112C>T:p.Gln38Ter	coding	Pathogenic
20	21706590	G	C	G21706590C	PAX1	NM_001257096.2(PAX1):c.439G>C:p.Val147Leu	coding	Pathogenic
20	21706706	G	A	G21706706A	PAX1	NM_001257096.2(PAX1):c.555G>A:p.Lys185=	coding	Benign
20	21706955	C	T	C21706955T	PAX1	NM_001257096.2(PAX1):c.804C>T:p.Gly268=	coding	Benign
20	21707086	C	T	C21707086T	PAX1	NM_001257096.2(PAX1):c.916+19C>T	noncoding	Benign
20	21709202	G	A	G21709202A	PAX1	NM_001257096.2(PAX1):c.1060-20G>A	noncoding	Benign
20	21714709	C	T	C21714709T	PAX1	NM_001257096.2(PAX1):c.*147C>T	coding	Benign
20	22582036	T	C	T22582036C	FOXA2	NM_021784.5(FOXA2):c.1206A>G:p.Gln402=	coding	Benign
20	22582352	G	A	G22582352A	FOXA2	NM_021784.5(FOXA2):c.890C>T:p.Ala297Val	coding	Benign/Likely_benign
20	22582387	T	C	T22582387C	FOXA2	NM_021784.5(FOXA2):c.855A>G:p.Gly285=	coding	Benign
20	22582777	C	T	C22582777T	FOXA2	NM_021784.5(FOXA2):c.465G>A:p.Lys155=	coding	Benign
20	22582817	A	G	A22582817G	FOXA2	NM_021784.5(FOXA2):c.425T>C:p.Met142Thr	coding	Benign
20	22582898	C	T	C22582898T	FOXA2	NM_021784.5(FOXA2):c.344G>A:p.Ser115Asn	coding	Benign
20	22582933	G	A	G22582933A	FOXA2	NM_021784.5(FOXA2):c.309C>T:p.Ala103=	coding	Benign
20	22582944	C	G	C22582944G	FOXA2	NM_021784.5(FOXA2):c.298G>C:p.Ala100Pro	coding	Benign/Likely_benign
20	23047801	G	A	G23047801A	THBD	NM_000361.3(THBD):c.1704C>T:p.Thr568=	coding	Benign
20	23048149	G	T	G23048149T	THBD	NM_000361.3(THBD):c.1356C>A:p.Ser452=	coding	Benign/Likely_benign
20	23048473	C	T	C23048473T	THBD	NM_000361.3(THBD):c.1032G>A:p.Gln344=	coding	Benign
20	23049334	G	T	G23049334T	THBD	NM_000361.3(THBD):c.171C>A:p.Gly57=	coding	Benign
20	23049363	C	T	C23049363T	THBD	NM_000361.3(THBD):c.142G>A:p.Ala48Thr	coding	Pathogenic
20	23049469	C	T	C23049469T	THBD	NM_000361.3(THBD):c.36G>A:p.Leu12=	coding	Benign
20	23049706	C	T	C23049706T	THBD	NG_012027.1:g.4959G>A	noncoding	Benign
20	23364138	C	G	C23364138G	GZF1	NM_022482.5(GZF1):c.-21-225C>G	noncoding	Benign
20	23364432	C	T	C23364432T	GZF1	NM_022482.5(GZF1):c.49C>T:p.Leu17=	coding	Benign
20	23365207	A	C	A23365207C	GZF1	NM_022482.5(GZF1):c.824A>C:p.Gln275Pro	coding	Benign
20	23365313	G	A	G23365313A	GZF1	NM_022482.5(GZF1):c.930G>A:p.Gly310=	coding	Benign
20	23365679	C	T	C23365679T	GZF1	NM_022482.5(GZF1):c.1296C>T:p.Asp432=	coding	Benign
20	23365855	C	T	C23365855T	GZF1	NM_022482.5(GZF1):c.1364+108C>T	noncoding	Benign
20	23365878	C	G	C23365878G	GZF1	NM_022482.5(GZF1):c.1364+131C>G	noncoding	Benign
20	23366916	C	T	C23366916T	GZF1	NM_022482.5(GZF1):c.1365-87C>T	noncoding	Benign
20	23368601	T	C	T23368601C	GZF1	NM_022482.5(GZF1):c.1460-161T>C	noncoding	Benign
20	23369112	C	T	C23369112T	GZF1	NM_022482.5(GZF1):c.1627+183C>T	noncoding	Benign
20	23369128	C	T	C23369128T	GZF1	NM_022482.5(GZF1):c.1627+199C>T	noncoding	Benign
20	23369817	T	C	T23369817C	GZF1	NM_022482.5(GZF1):c.1785+76T>C	noncoding	Benign
20	23369853	T	C	T23369853C	GZF1	NM_022482.5(GZF1):c.1785+112T>C	noncoding	Benign
20	23369888	C	T	C23369888T	GZF1	NM_022482.5(GZF1):c.1785+147C>T	noncoding	Benign
20	23370153	C	T	C23370153T	GZF1	NM_022482.5(GZF1):c.1848C>T:p.Asn616=	coding	Benign
20	23370304	G	A	G23370304A	GZF1	NM_022482.5(GZF1):c.1999G>A:p.Asp667Asn	coding	Benign
20	23370651	A	T	A23370651T	GZF1	NM_022482.5(GZF1):c.*210A>T	noncoding	Benign
20	23390028	G	T	G23390028T	NAPB	NM_022080.3(NAPB):c.479C>A:p.Ser160Ter	coding	Pathogenic
20	23633933	T	C	T23633933C	CST3	NM_000099.4(CST3):c.424A>G:p.Thr142Ala	coding	Benign
20	23637649	C	A	C23637649A	CST3	NM_000099.4(CST3):c.214G>T:p.Ala72Ser	coding	Benign
20	23637704	C	T	C23637704T	CST3	NM_000099.4(CST3):c.159G>A:p.Leu53=	coding	Benign
20	23637725	C	T	C23637725T	CST3	NM_000099.4(CST3):c.138G>A:p.Glu46=	coding	Benign
20	23637758	T	C	T23637758C	CST3	NM_000099.4(CST3):c.105A>G:p.Leu35=	coding	Benign
20	23637790	C	T	C23637790T	CST3	NM_000099.4(CST3):c.73G>A:p.Ala25Thr	coding	Benign
20	23637851	G	A	G23637851A	CST3	NM_000099.4(CST3):c.12C>T:p.Pro4=	coding	Benign
20	25013978	C	T	C25013978T	ACSS1	NM_032501.4(ACSS1):c.1435G>A:p.Val479Ile	coding	Benign
20	25078806	C	T	C25078806T	VSX1	NM_014588.6(VSX1):c.627+23G>A	coding	Benign
20	25294981	G	A	G25294981A	ABHD12	NM_002862.4(PYGB):c.2313-623G>A	coding	Benign
20	25294985	T	C	T25294985C	ABHD12	NM_002862.4(PYGB):c.2313-619T>C	coding	Benign
20	25295159	C	G	C25295159G	ABHD12	NM_002862.4(PYGB):c.2313-445C>G	noncoding	Benign
20	25295207	C	T	C25295207T	ABHD12	NM_002862.4(PYGB):c.2313-397C>T	noncoding	Benign
20	25295234	A	G	A25295234G	ABHD12	NM_002862.4(PYGB):c.2313-370A>G	noncoding	Benign
20	25295254	C	A	C25295254A	ABHD12	NM_002862.4(PYGB):c.2313-350C>A	noncoding	Benign
20	25301097	T	C	T25301097C	ABHD12	NM_001042472.3(ABHD12):c.1158-213A>G	noncoding	Benign
20	25301198	G	C	G25301198C	ABHD12	NM_001042472.3(ABHD12):c.1158-314C>G	noncoding	Benign
20	25301892	T	C	T25301892C	ABHD12	NM_001042472.3(ABHD12):c.1157+327A>G	noncoding	Benign
20	25301972	T	C	T25301972C	ABHD12	NM_001042472.3(ABHD12):c.1157+247A>G	noncoding	Benign
20	25301990	T	G	T25301990G	ABHD12	NM_001042472.3(ABHD12):c.1157+229A>C	noncoding	Benign
20	25302235	G	A	G25302235A	ABHD12	NM_001042472.3(ABHD12):c.1141C>T:p.Leu381=	coding	Benign/Likely_benign
20	25302313	G	A	G25302313A	ABHD12	NM_001042472.3(ABHD12):c.1063C>T:p.Arg355Ter	coding	Pathogenic
20	25303354	C	G	C25303354G	ABHD12	NM_001042472.3(ABHD12):c.1029+196G>C	noncoding	Benign
20	25303488	C	A	C25303488A	ABHD12	NM_001042472.3(ABHD12):c.1029+62G>T	noncoding	Benign
20	25303564	G	A	G25303564A	ABHD12	NM_001042472.3(ABHD12):c.1015C>T:p.Gln339Ter	coding	Pathogenic
20	25303707	T	C	T25303707C	ABHD12	NM_001042472.3(ABHD12):c.951-79A>G	noncoding	Benign
20	25303881	T	G	T25303881G	ABHD12	NM_001042472.3(ABHD12):c.951-253A>C	noncoding	Benign
20	25307869	C	T	C25307869T	ABHD12	NM_001042472.3(ABHD12):c.867+97G>A	noncoding	Benign
20	25308438	G	A	G25308438A	ABHD12	NM_001042472.3(ABHD12):c.787+19C>T	noncoding	Benign
20	25308460	G	A	G25308460A	ABHD12	NM_001042472.3(ABHD12):c.784C>T:p.Arg262Ter	coding	Pathogenic
20	25309241	G	A	G25309241A	ABHD12	NM_001042472.3(ABHD12):c.749+205C>T	noncoding	Benign
20	25309466	C	T	C25309466T	ABHD12	NM_001042472.3(ABHD12):c.729G>A:p.Trp243Ter	coding	Pathogenic
20	25309876	C	A	C25309876A	ABHD12	NM_001042472.3(ABHD12):c.620-301G>T	noncoding	Benign
20	25309907	T	C	T25309907C	ABHD12	NM_001042472.3(ABHD12):c.620-332A>G	noncoding	Benign
20	25314986	T	C	T25314986C	ABHD12	NM_001042472.3(ABHD12):c.574-16A>G	noncoding	Benign
20	25317273	G	A	G25317273A	ABHD12	NM_001042472.3(ABHD12):c.543-195C>T	noncoding	Benign
20	25320318	C	T	C25320318T	ABHD12	NM_001042472.3(ABHD12):c.423G>A:p.Trp141Ter	coding	Pathogenic
20	25323296	G	A	G25323296A	ABHD12	NM_001042472.3(ABHD12):c.422+29C>T	noncoding	Benign
20	25323475	A	G	A25323475G	ABHD12	NM_001042472.3(ABHD12):c.317-45T>C	noncoding	Benign
20	25323653	G	A	G25323653A	ABHD12	NM_001042472.3(ABHD12):c.317-223C>T	noncoding	Benign
20	25339225	A	T	A25339225T	ABHD12	NM_001042472.3(ABHD12):c.316+2T>A	noncoding	Pathogenic
20	25339592	T	A	T25339592A	ABHD12	NM_001042472.3(ABHD12):c.192-241A>T	noncoding	Benign
20	25390477	G	C	G25390477C	ABHD12	NM_001042472.3(ABHD12):c.191+36C>G	noncoding	Benign
20	25390489	C	A	C25390489A	ABHD12	NM_001042472.3(ABHD12):c.191+24G>T	noncoding	Benign
20	25390489	C	G	C25390489G	ABHD12	NM_001042472.3(ABHD12):c.191+24G>C	noncoding	Benign
20	25390494	G	C	G25390494C	ABHD12	NM_001042472.3(ABHD12):c.191+19C>G	noncoding	Benign
20	25390496	T	C	T25390496C	ABHD12	NM_001042472.3(ABHD12):c.191+17A>G	noncoding	Benign
20	25390499	G	C	G25390499C	ABHD12	NM_001042472.3(ABHD12):c.191+14C>G	noncoding	Benign
20	25390515	G	C	G25390515C	ABHD12	NM_001042472.3(ABHD12):c.189C>G:p.Gly63=	coding	Benign
20	25390751	C	T	C25390751T	ABHD12	NM_001042472.3(ABHD12):c.-48G>A	noncoding	Benign
20	25407761	A	G	A25407761G	GINS1	NM_021067.5(GINS1):c.-60A>G	noncoding	Pathogenic
20	25413818	A	G	A25413818G	GINS1	NM_021067.5(GINS1):c.104A>G:p.Glu35Gly	coding	Benign
20	25418154	G	A	G25418154A	GINS1	NM_021067.5(GINS1):c.289G>A:p.Val97Ile	coding	Benign
20	31637737	G	T	G31637737T	COX4I2	Single_allele	noncoding	Benign
20	31637989	C	T	C31637989T	COX4I2	NM_032609.3(COX4I2):c.-1+27C>T	noncoding	Benign
20	31638740	C	G	C31638740G	COX4I2	NM_032609.3(COX4I2):c.1-278C>G	noncoding	Benign
20	31638887	G	A	G31638887A	COX4I2	NM_032609.3(COX4I2):c.1-131G>A	noncoding	Benign
20	31638961	G	C	G31638961C	COX4I2	NM_032609.3(COX4I2):c.1-57G>C	noncoding	Benign
20	31640354	G	A	G31640354A	COX4I2	NM_032609.3(COX4I2):c.247+257G>A	noncoding	Benign
20	31643834	T	C	T31643834C	COX4I2	NM_032609.3(COX4I2):c.379+299T>C	noncoding	Benign
20	31644486	T	C	T31644486C	COX4I2	NM_032609.3(COX4I2):c.380-282T>C	noncoding	Benign
20	31644649	C	T	C31644649T	COX4I2	NM_032609.3(COX4I2):c.380-119C>T	noncoding	Benign
20	31644701	G	A	G31644701A	COX4I2	NM_032609.3(COX4I2):c.380-67G>A	noncoding	Benign
20	31645101	T	G	T31645101G	COX4I2	Single_allele	noncoding	Benign
20	31821770	C	T	C31821770T	MYLK2	NM_033118.4(MYLK2):c.772+33C>T	noncoding	Benign
20	31821781	G	C	G31821781C	MYLK2	NM_033118.4(MYLK2):c.772+44G>C	noncoding	Benign
20	31831248	A	G	A31831248G	MYLK2	NM_033118.4(MYLK2):c.1424+107A>G	noncoding	Benign
20	31833656	C	T	C31833656T	MYLK2	NM_033118.4(MYLK2):c.1711-61C>T	noncoding	Benign
20	31833784	C	T	C31833784T	MYLK2	NM_033118.4(MYLK2):c.1778C>T:p.Ala593Val	coding	Benign/Likely_benign
20	32207918	G	A	G32207918A	POFUT1	NM_015352.2(POFUT1):c.-24G>A	noncoding	Benign
20	32207926	G	C	G32207926C	POFUT1	NM_015352.2(POFUT1):c.-16G>C	noncoding	Benign
20	32208300	T	C	T32208300C	POFUT1	NM_015352.2(POFUT1):c.124+235T>C	noncoding	Benign
20	32209825	T	C	T32209825C	POFUT1	NM_015352.2(POFUT1):c.125-246T>C	noncoding	Benign
20	32215530	T	C	T32215530C	POFUT1	NM_015352.2(POFUT1):c.429+79T>C	noncoding	Benign
20	32216731	G	T	G32216731T	POFUT1	NM_015352.2(POFUT1):c.542+10G>T	noncoding	Benign
20	32216732	G	C	G32216732C	POFUT1	NM_015352.2(POFUT1):c.542+11G>C	noncoding	Benign/Likely_benign
20	32216732	G	T	G32216732T	POFUT1	NM_015352.2(POFUT1):c.542+11G>T	noncoding	Benign/Likely_benign
20	32216736	T	C	T32216736C	POFUT1	NM_015352.2(POFUT1):c.542+15T>C	noncoding	Benign
20	32228466	C	A	C32228466A	POFUT1	NM_015352.2(POFUT1):c.735+11C>A	noncoding	Benign
20	32228628	A	G	A32228628G	POFUT1	NM_015352.2(POFUT1):c.735+173A>G	noncoding	Benign
20	32228653	T	C	T32228653C	POFUT1	NM_015352.2(POFUT1):c.735+198T>C	noncoding	Benign
20	32230806	C	T	C32230806T	POFUT1	NM_015352.2(POFUT1):c.736-13C>T	noncoding	Benign
20	32230807	C	T	C32230807T	POFUT1	NM_015352.2(POFUT1):c.736-12C>T	noncoding	Benign
20	32230808	G	A	G32230808A	POFUT1	NM_015352.2(POFUT1):c.736-11G>A	noncoding	Benign
20	32230824	C	T	C32230824T	POFUT1	NM_015352.2(POFUT1):c.741C>T:p.Asn247=	coding	Benign
20	32230950	G	A	G32230950A	POFUT1	NM_015352.2(POFUT1):c.867G>A:p.Glu289=	coding	Benign
20	32231239	T	C	T32231239C	POFUT1	NM_015352.2(POFUT1):c.978+178T>C	noncoding	Benign
20	32234536	G	A	G32234536A	POFUT1	NM_015352.2(POFUT1):c.1042G>A:p.Asp348Asn	coding	Benign
20	32234760	A	G	A32234760G	POFUT1	NM_015352.2(POFUT1):c.*99A>G	noncoding	Benign
20	32358199	G	A	G32358199A	ASXL1	Single_allele	noncoding	Benign
20	32358772	A	G	A32358772G	ASXL1	NM_015338.6(ASXL1):c.-4A>G	noncoding	Benign
20	32358851	G	A	G32358851A	ASXL1	NM_015338.6(ASXL1):c.57+19G>A	noncoding	Benign/Likely_benign
20	32358884	C	T	C32358884T	ASXL1	NM_015338.6(ASXL1):c.57+52C>T	noncoding	Benign
20	32366492	A	G	A32366492G	ASXL1	NM_015338.6(ASXL1):c.140+26A>G	noncoding	Benign
20	32369134	T	C	T32369134C	ASXL1	NM_015338.6(ASXL1):c.252+11T>C	noncoding	Benign/Likely_benign
20	32371901	A	G	A32371901G	ASXL1	NM_015338.6(ASXL1):c.252+2778A>G	noncoding	Benign
20	32427840	T	C	T32427840C	ASXL1	NM_015338.6(ASXL1):c.253-288T>C	noncoding	Benign
20	32428264	T	G	T32428264G	ASXL1	NM_015338.6(ASXL1):c.373+16T>G	noncoding	Benign
20	32428316	C	T	C32428316T	ASXL1	NM_015338.6(ASXL1):c.374-9C>T	noncoding	Benign/Likely_benign
20	32428439	G	A	G32428439A	ASXL1	NM_015338.6(ASXL1):c.471+17G>A	noncoding	Benign
20	32428511	A	G	A32428511G	ASXL1	NM_015338.6(ASXL1):c.471+89A>G	noncoding	Benign
20	32429703	A	G	A32429703G	ASXL1	NM_015338.6(ASXL1):c.566-198A>G	noncoding	Benign
20	32431221	C	T	C32431221T	ASXL1	NM_015338.6(ASXL1):c.719-100C>T	noncoding	Benign
20	32431922	T	C	T32431922C	ASXL1	NM_015338.6(ASXL1):c.979+243T>C	noncoding	Benign
20	32433529	C	T	C32433529T	ASXL1	NM_015338.6(ASXL1):c.1331C>T:p.Ser444Leu	coding	Benign/Likely_benign
20	32433663	C	G	C32433663G	ASXL1	NM_015338.6(ASXL1):c.1465C>G:p.Arg489Gly	coding	Benign/Likely_benign
20	32433672	G	C	G32433672C	ASXL1	NM_015338.6(ASXL1):c.1474G>C:p.Ala492Pro	coding	Benign
20	32433718	T	A	T32433718A	ASXL1	NM_015338.6(ASXL1):c.1520T>A:p.Ile507Asn	coding	Benign/Likely_benign
20	32433831	C	T	C32433831T	ASXL1	NM_015338.6(ASXL1):c.1633C>T:p.Arg545Cys	coding	Benign/Likely_benign
20	32433918	G	A	G32433918A	ASXL1	NM_015338.6(ASXL1):c.1719+1G>A	coding	Pathogenic
20	32434430	A	G	A32434430G	ASXL1	NM_015338.6(ASXL1):c.1720-2A>G	noncoding	Pathogenic
20	32434432	A	G	A32434432G	ASXL1	NM_015338.6(ASXL1):c.1720A>G:p.Ile574Val	coding	Pathogenic
20	32434610	A	G	A32434610G	ASXL1	NM_015338.6(ASXL1):c.1898A>G:p.His633Arg	coding	Benign/Likely_benign
20	32434619	C	T	C32434619T	ASXL1	NM_015338.6(ASXL1):c.1907C>T:p.Ala636Val	coding	Benign
20	32434641	G	A	G32434641A	ASXL1	NM_015338.6(ASXL1):c.1929G>A:p.Gly643=	coding	Benign
20	32434700	G	A	G32434700A	ASXL1	NM_015338.6(ASXL1):c.1988G>A:p.Ser663Asn	coding	Benign
20	32434771	T	C	T32434771C	ASXL1	NM_015338.6(ASXL1):c.2059T>C:p.Cys687Arg	coding	Benign/Likely_benign
20	32434822	G	A	G32434822A	ASXL1	NM_015338.6(ASXL1):c.2110G>A:p.Gly704Arg	coding	Benign/Likely_benign
20	32434934	A	T	A32434934T	ASXL1	NM_015338.6(ASXL1):c.2222A>T:p.Asp741Val	coding	Benign
20	32435238	T	C	T32435238C	ASXL1	NM_015338.6(ASXL1):c.2526T>C:p.Asn842=	coding	Benign/Likely_benign
20	32435305	G	A	G32435305A	ASXL1	NM_015338.6(ASXL1):c.2593G>A:p.Glu865Lys	coding	Benign/Likely_benign
20	32435514	T	C	T32435514C	ASXL1	NM_015338.6(ASXL1):c.2802T>C:p.Ala934=	coding	Benign/Likely_benign
20	32435669	A	G	A32435669G	ASXL1	NM_015338.6(ASXL1):c.2957A>G:p.Asn986Ser	coding	Benign/Likely_benign
20	32435697	C	T	C32435697T	ASXL1	NM_015338.6(ASXL1):c.2985C>T:p.His995=	coding	Benign
20	32435741	C	T	C32435741T	ASXL1	NM_015338.6(ASXL1):c.3029C>T:p.Thr1010Met	coding	Benign/Likely_benign
20	32435906	G	A	G32435906A	ASXL1	NM_015338.6(ASXL1):c.3194G>A:p.Trp1065Ter	coding	Pathogenic
20	32435947	T	C	T32435947C	ASXL1	NM_015338.6(ASXL1):c.3235T>C:p.Ser1079Pro	coding	Benign/Likely_benign
20	32436018	G	T	G32436018T	ASXL1	NM_015338.6(ASXL1):c.3306G>T:p.Glu1102Asp	coding	Benign
20	32436139	A	C	A32436139C	ASXL1	NM_015338.6(ASXL1):c.3427A>C:p.Ser1143Arg	coding	Benign/Likely_benign
20	32436149	C	A	C32436149A	ASXL1	NM_015338.6(ASXL1):c.3437C>A:p.Ser1146Ter	coding	Pathogenic
20	32436155	G	A	G32436155A	ASXL1	NM_015338.6(ASXL1):c.3443G>A:p.Arg1148His	coding	Benign
20	32436199	G	A	G32436199A	ASXL1	NM_015338.6(ASXL1):c.3487G>A:p.Asp1163Asn	coding	Benign
20	32436234	G	C	G32436234C	ASXL1	NM_015338.6(ASXL1):c.3522G>C:p.Lys1174Asn	coding	Benign
20	32436252	T	C	T32436252C	ASXL1	NM_015338.6(ASXL1):c.3540T>C:p.Asp1180=	coding	Benign/Likely_benign
20	32436358	G	C	G32436358C	ASXL1	NM_015338.6(ASXL1):c.3646G>C:p.Val1216Leu	coding	Benign
20	32436387	A	T	A32436387T	ASXL1	NM_015338.6(ASXL1):c.3675A>T:p.Lys1225Asn	coding	Benign
20	32436451	C	T	C32436451T	ASXL1	NM_015338.6(ASXL1):c.3739C>T:p.Arg1247Cys	coding	Benign/Likely_benign
20	32436601	G	A	G32436601A	ASXL1	NM_015338.6(ASXL1):c.3889G>A:p.Val1297Ile	coding	Benign/Likely_benign
20	32436645	T	C	T32436645C	ASXL1	NM_015338.6(ASXL1):c.3933T>C:p.Ala1311=	coding	Benign/Likely_benign
20	32436671	C	T	C32436671T	ASXL1	NM_015338.6(ASXL1):c.3959C>T:p.Ala1320Val	coding	Benign
20	32436677	C	G	C32436677G	ASXL1	NM_015338.6(ASXL1):c.3965C>G:p.Pro1322Arg	coding	Benign/Likely_benign
20	32437055	A	G	A32437055G	ASXL1	NM_015338.6(ASXL1):c.4343A>G:p.Gln1448Arg	coding	Benign
20	32437182	G	T	G32437182T	ASXL1	NM_015338.6(ASXL1):c.4470G>T:p.Leu1490Phe	coding	Benign/Likely_benign
20	32437360	A	G	A32437360G	ASXL1	NM_015338.6(ASXL1):c.*22A>G	noncoding	Benign
20	32437428	T	C	T32437428C	ASXL1	NM_015338.6(ASXL1):c.*90T>C	noncoding	Benign
20	32762102	T	C	T32762102C	DNMT3B	NC_000020.10:g.31349908T>C	noncoding	Benign
20	32781427	C	T	C32781427T	DNMT3B	NM_006892.4(DNMT3B):c.204+13C>T	noncoding	Benign
20	32786453	C	T	C32786453T	DNMT3B	NM_006892.4(DNMT3B):c.307-49C>T	noncoding	Benign
20	32788890	G	T	G32788890T	DNMT3B	NM_006892.4(DNMT3B):c.691G>T:p.Gly231Ter	coding	Pathogenic
20	32793610	T	C	T32793610C	DNMT3B	NM_006892.4(DNMT3B):c.1126+15T>C	noncoding	Benign/Likely_benign
20	32795497	C	T	C32795497T	DNMT3B	NM_006892.4(DNMT3B):c.1215C>T:p.Asn405=	coding	Benign
20	32798548	T	C	T32798548C	DNMT3B	NM_006892.4(DNMT3B):c.1579T>C:p.Cys527Arg	coding	Pathogenic
20	32800136	C	T	C32800136T	DNMT3B	NM_006892.4(DNMT3B):c.1760-17C>T	noncoding	Benign
20	32800849	C	T	C32800849T	DNMT3B	NM_006892.4(DNMT3B):c.1920C>T:p.Gly640=	coding	Benign
20	32800852	A	G	A32800852G	DNMT3B	NM_006892.4(DNMT3B):c.1923A>G:p.Pro641=	coding	Benign
20	32805352	C	A	C32805352A	DNMT3B	NM_006892.4(DNMT3B):c.2246C>A:p.Ser749Ter	coding	Pathogenic
20	32805997	T	C	T32805997C	DNMT3B	NM_006892.4(DNMT3B):c.2302-212T>C	noncoding	Benign
20	32807786	C	T	C32807786T	DNMT3B	NM_006892.4(DNMT3B):c.2445C>T:p.Tyr815=	coding	Benign
20	33409017	G	A	G33409017A	SNTA1	NM_003098.3(SNTA1):c.1238-129C>T	noncoding	Benign
20	33410214	C	T	C33410214T	SNTA1	NM_003098.3(SNTA1):c.1158G>A:p.Pro386=	coding	Benign/Likely_benign
20	33418187	T	C	T33418187C	SNTA1	NM_003098.3(SNTA1):c.497-264A>G	noncoding	Benign
20	33439032	C	G	C33439032G	SNTA1	NM_003098.3(SNTA1):c.311-6G>C	noncoding	Benign
20	33443507	G	A	G33443507A	SNTA1	NM_003098.3(SNTA1):c.114C>T:p.Asp38=	coding	Benign/Likely_benign
20	33443589	C	G	C33443589G	SNTA1	NM_003098.3(SNTA1):c.32G>C:p.Gly11Ala	coding	Benign
20	33745097	C	T	C33745097T	ZNF341	NM_001282933.2(ZNF341):c.143-6C>T	noncoding	Benign
20	33745110	G	T	G33745110T	ZNF341	NM_001282933.2(ZNF341):c.150G>T:p.Glu50Asp	coding	Benign
20	33745204	G	A	G33745204A	ZNF341	NM_001282933.2(ZNF341):c.244G>A:p.Ala82Thr	coding	Benign
20	33748903	C	G	C33748903G	ZNF341	NM_001282933.2(ZNF341):c.340-20C>G	noncoding	Benign
20	33748949	G	A	G33748949A	ZNF341	NM_001282933.2(ZNF341):c.366G>A:p.Pro122=	coding	Benign
20	33749062	C	T	C33749062T	ZNF341	NM_001282933.2(ZNF341):c.479C>T:p.Pro160Leu	coding	Benign
20	33749088	C	T	C33749088T	ZNF341	NM_001282933.2(ZNF341):c.489+16C>T	noncoding	Benign
20	33753235	C	T	C33753235T	ZNF341	NM_001282933.2(ZNF341):c.553C>T:p.Pro185Ser	coding	Benign
20	33753354	T	C	T33753354C	ZNF341	NM_001282933.2(ZNF341):c.672T>C:p.Ala224=	coding	Benign/Likely_benign
20	33757243	C	T	C33757243T	ZNF341	NM_001282933.2(ZNF341):c.837C>T:p.Ala279=	coding	Benign
20	33761868	C	T	C33761868T	ZNF341	NM_001282933.2(ZNF341):c.1035C>T:p.Thr345=	coding	Benign
20	33761990	G	A	G33761990A	ZNF341	NM_001282933.2(ZNF341):c.1157G>A:p.Arg386Gln	coding	Benign
20	33770118	C	T	C33770118T	ZNF341	NM_001282933.2(ZNF341):c.1448C>T:p.Thr483Met	coding	Benign
20	33770212	G	A	G33770212A	ZNF341	NM_001282933.2(ZNF341):c.1542G>A:p.Ser514=	coding	Benign
20	33770218	C	T	C33770218T	ZNF341	NM_001282933.2(ZNF341):c.1548C>T:p.Tyr516=	coding	Benign
20	33770290	C	T	C33770290T	ZNF341	NM_001282933.2(ZNF341):c.1620C>T:p.Tyr540=	coding	Benign
20	33770298	T	C	T33770298C	ZNF341	NM_001282933.2(ZNF341):c.1622+6T>C	noncoding	Benign
20	33770305	T	C	T33770305C	ZNF341	NM_001282933.2(ZNF341):c.1622+13T>C	noncoding	Benign
20	33781308	A	G	A33781308G	ZNF341	NM_001282933.2(ZNF341):c.1640A>G:p.Asn547Ser	coding	Benign
20	33788846	G	A	G33788846A	ZNF341	NM_001282933.2(ZNF341):c.1853-17G>A	noncoding	Benign
20	33788858	T	C	T33788858C	ZNF341	NM_001282933.2(ZNF341):c.1853-5T>C	noncoding	Benign
20	33788939	C	T	C33788939T	ZNF341	NM_001282933.2(ZNF341):c.1929C>T:p.Ile643=	coding	Benign
20	33788942	C	T	C33788942T	ZNF341	NM_001282933.2(ZNF341):c.1932C>T:p.His644=	coding	Benign
20	33790979	G	A	G33790979A	ZNF341	NM_001282933.2(ZNF341):c.2036-9G>A	noncoding	Benign
20	33791100	C	T	C33791100T	ZNF341	NM_001282933.2(ZNF341):c.2148C>T:p.Cys716=	coding	Benign
20	33791115	C	A	C33791115A	ZNF341	NM_001282933.2(ZNF341):c.2163C>A:p.Ser721=	coding	Benign
20	33791118	C	T	C33791118T	ZNF341	NM_001282933.2(ZNF341):c.2166C>T:p.Arg722=	coding	Benign
20	33791375	C	T	C33791375T	ZNF341	NM_001282933.2(ZNF341):c.2423C>T:p.Ala808Val	coding	Benign
20	33791389	A	C	A33791389C	ZNF341	NM_001282933.2(ZNF341):c.2437A>C:p.Thr813Pro	coding	Benign
20	33791457	T	C	T33791457C	ZNF341	NM_001282933.2(ZNF341):c.2505T>C:p.Ala835=	coding	Benign
20	33811394	C	G	C33811394G	CHMP4B	NM_176812.5(CHMP4B):c.-75C>G	noncoding	Benign
20	33811884	C	G	C33811884G	CHMP4B	NM_176812.5(CHMP4B):c.190+226C>G	noncoding	Benign
20	33848172	C	T	C33848172T	CHMP4B	NM_176812.5(CHMP4B):c.191-295C>T	noncoding	Benign
20	33852247	A	G	A33852247G	CHMP4B	NM_176812.5(CHMP4B):c.610+44A>G	noncoding	Benign
20	33852254	C	G	C33852254G	CHMP4B	NM_176812.5(CHMP4B):c.610+51C>G	noncoding	Benign
20	33852255	T	C	T33852255C	CHMP4B	NM_176812.5(CHMP4B):c.610+52T>C	noncoding	Benign
20	33852362	T	C	T33852362C	CHMP4B	NM_176812.5(CHMP4B):c.610+159T>C	noncoding	Benign
20	34281179	A	G	A34281179G	AHCY	NM_000687.4(AHCY):c.1168-14T>C	noncoding	Benign
20	34281229	G	C	G34281229C	AHCY	NM_000687.4(AHCY):c.1168-64C>G	noncoding	Benign
20	34285788	C	T	C34285788T	AHCY	NM_000687.4(AHCY):c.973-154G>A	noncoding	Benign
20	34290189	G	A	G34290189A	AHCY	NM_000687.4(AHCY):c.972+143C>T	noncoding	Benign
20	34291678	G	A	G34291678A	AHCY	NM_000687.4(AHCY):c.446-147C>T	noncoding	Benign
20	34295469	G	A	G34295469A	AHCY	NM_000687.4(AHCY):c.145C>T:p.Arg49Cys	coding	Pathogenic/Likely_pathogenic
20	34301898	C	T	C34301898T	AHCY	NM_000687.4(AHCY):c.28+1345G>A	noncoding	Benign
20	34438651	A	G	A34438651G	ITCH	NM_031483.7(ITCH):c.679+20A>G	noncoding	Benign
20	34445479	T	A	T34445479A	ITCH	NM_031483.7(ITCH):c.1140+18T>A	noncoding	Benign
20	34479809	T	A	T34479809A	ITCH	NM_031483.7(ITCH):c.1818+20T>A	noncoding	Benign
20	34489291	C	T	C34489291T	ITCH	NM_031483.7(ITCH):c.2119C>T:p.Arg707Ter	coding	Pathogenic
20	34489863	G	A	G34489863A	ITCH	NM_031483.7(ITCH):c.2256G>A:p.Trp752Ter	coding	Pathogenic
20	34581601	C	T	C34581601T	PIGU	NM_080476.5(PIGU):c.998G>A:p.Gly333Glu	coding	Benign
20	34585502	G	C	G34585502C	PIGU	NM_080476.5(PIGU):c.861C>G:p.Leu287=	coding	Benign
20	34634724	G	A	G34634724A	PIGU	NM_080476.5(PIGU):c.429-9C>T	noncoding	Benign
20	34676927	T	G	T34676927G	PIGU	NM_080476.5(PIGU):c.130+29A>C	noncoding	Benign
20	34749948	T	C	T34749948C	NCOA6	NM_014071.5(NCOA6):c.2247A>G:p.Pro749=	coding	Benign
20	34929208	G	T	G34929208T	GSS	NM_000178.4(GSS):c.1301+193C>A	noncoding	Benign
20	34929211	A	G	A34929211G	GSS	NM_000178.4(GSS):c.1301+190T>C	noncoding	Benign
20	34932046	G	A	G34932046A	GSS	NM_000178.4(GSS):c.922C>T:p.Gln308Ter	coding	Pathogenic
20	34935352	G	T	G34935352T	GSS	NM_000178.4(GSS):c.834+224C>A	noncoding	Benign
20	34935457	C	T	C34935457T	GSS	NM_000178.4(GSS):c.834+119G>A	noncoding	Benign
20	34935718	G	A	G34935718A	GSS	NM_000178.4(GSS):c.768-76C>T	noncoding	Benign
20	34936824	G	A	G34936824A	GSS	NM_000178.4(GSS):c.706C>T:p.Arg236Ter	coding	Pathogenic
20	34941963	T	G	T34941963G	GSS	NM_000178.4(GSS):c.492-134A>C	noncoding	Benign
20	34945885	G	A	G34945885A	GSS	NM_000178.4(GSS):c.275+68C>T	noncoding	Benign
20	34945927	C	T	C34945927T	GSS	NM_000178.4(GSS):c.275+26G>A	noncoding	Benign
20	34949868	G	A	G34949868A	GSS	NM_000178.4(GSS):c.129+1856C>T	noncoding	Benign
20	34950112	A	G	A34950112G	GSS	NM_000178.4(GSS):c.129+1612T>C	noncoding	Benign
20	34977677	C	T	C34977677T	MYH7B	NM_020884.7(MYH7B):c.-76C>T	coding	Benign
20	34977952	G	A	G34977952A	MYH7B	NM_020884.7(MYH7B):c.-54G>A	coding	Benign
20	34980604	C	T	C34980604T	MYH7B	NM_020884.7(MYH7B):c.369C>T:p.Thr123=	coding	Benign
20	34980652	T	C	T34980652C	MYH7B	NM_020884.7(MYH7B):c.417T>C:p.Ala139=	coding	Benign
20	34982519	C	T	C34982519T	MYH7B	NM_020884.7(MYH7B):c.588C>T:p.Ile196=	coding	Benign
20	34985138	A	G	A34985138G	MYH7B	NM_020884.7(MYH7B):c.805+9A>G	noncoding	Benign
20	34986962	T	C	T34986962C	MYH7B	NM_020884.7(MYH7B):c.981T>C:p.Asn327=	coding	Benign
20	34986981	G	A	G34986981A	MYH7B	NM_020884.7(MYH7B):c.1000G>A:p.Ala334Thr	coding	Benign
20	34987211	C	T	C34987211T	MYH7B	NM_020884.7(MYH7B):c.1071C>T:p.Gly357=	coding	Benign
20	34987254	C	T	C34987254T	MYH7B	NM_020884.7(MYH7B):c.1114C>T:p.Arg372Trp	coding	Benign
20	34987597	G	A	G34987597A	MYH7B	NM_020884.7(MYH7B):c.1188G>A:p.Gly396=	coding	Benign
20	34987636	A	G	A34987636G	MYH7B	NM_020884.7(MYH7B):c.1227A>G:p.Val409=	coding	Benign
20	34990112	G	A	G34990112A	MYH7B	NM_020884.7(MYH7B):c.1866G>A:p.Ala622=	coding	Benign
20	34991096	T	C	T34991096C	MYH7B	NM_020884.7(MYH7B):c.2158T>C:p.Leu720=	coding	Benign
20	34993089	C	T	C34993089T	MYH7B	NM_020884.7(MYH7B):c.2184-13C>T	noncoding	Benign
20	34993235	C	T	C34993235T	MYH7B	NM_020884.7(MYH7B):c.2307+10C>T	noncoding	Benign
20	34994243	C	T	C34994243T	MYH7B	NM_020884.7(MYH7B):c.2542C>T:p.Arg848Cys	coding	Benign
20	34995318	G	A	G34995318A	MYH7B	NM_020884.7(MYH7B):c.2701-18G>A	noncoding	Benign
20	34996394	C	T	C34996394T	MYH7B	NM_020884.7(MYH7B):c.2992C>T:p.Arg998Trp	coding	Benign
20	34996486	C	T	C34996486T	MYH7B	NM_020884.7(MYH7B):c.3084C>T:p.Thr1028=	coding	Benign
20	34996501	G	A	G34996501A	MYH7B	NM_020884.7(MYH7B):c.3099G>A:p.Arg1033=	coding	Benign
20	34996507	G	A	G34996507A	MYH7B	NM_020884.7(MYH7B):c.3105G>A:p.Glu1035=	coding	Benign
20	34997191	G	T	G34997191T	MYH7B	NM_020884.7(MYH7B):c.3357+18G>T	noncoding	Benign
20	34997343	G	A	G34997343A	MYH7B	NM_020884.7(MYH7B):c.3450G>A:p.Leu1150=	coding	Benign
20	34997634	C	T	C34997634T	MYH7B	NM_020884.7(MYH7B):c.3741C>T:p.Arg1247=	coding	Benign
20	34998390	C	T	C34998390T	MYH7B	NM_020884.7(MYH7B):c.3843C>T:p.Ser1281=	coding	Benign
20	34998844	C	T	C34998844T	MYH7B	NM_020884.7(MYH7B):c.4119C>T:p.Ala1373=	coding	Benign
20	34999165	G	A	G34999165A	MYH7B	NM_020884.7(MYH7B):c.4300G>A:p.Asp1434Asn	coding	Benign
20	34999259	G	A	G34999259A	MYH7B	NM_020884.7(MYH7B):c.4394G>A:p.Arg1465Gln	coding	Benign
20	34999395	G	C	G34999395C	MYH7B	NM_020884.7(MYH7B):c.4530G>C:p.Lys1510Asn	coding	Benign
20	34999425	A	C	A34999425C	MYH7B	NM_020884.7(MYH7B):c.4540+20A>C	noncoding	Benign
20	34999793	G	A	G34999793A	MYH7B	NM_020884.7(MYH7B):c.4668G>A:p.Gly1556=	coding	Benign
20	35000431	C	T	C35000431T	MYH7B	NM_020884.7(MYH7B):c.4920C>T:p.Thr1640=	coding	Benign
20	35000545	G	A	G35000545A	MYH7B	NM_020884.7(MYH7B):c.5034G>A:p.Ala1678=	coding	Benign
20	35001055	A	C	A35001055C	MYH7B	NM_020884.7(MYH7B):c.5372A>C:p.Lys1791Thr	coding	Benign
20	35001304	G	A	G35001304A	MYH7B	NM_020884.7(MYH7B):c.5535G>A:p.Lys1845=	coding	Benign
20	35384111	C	T	C35384111T	UQCC1	NM_018244.5(UQCC1):c.152G>A:p.Arg51Gln	coding	Benign
20	35434749	G	T	G35434749T	GDF5	NM_000557.5(GDF5):c.666C>A:p.Tyr222Ter	coding	Pathogenic
20	35437463	G	A	G35437463A	GDF5	NM_000557.5(GDF5):c.466C>T:p.Arg156Ter	coding	Pathogenic/Likely_pathogenic
20	35437541	C	T	C35437541T	GDF5	NM_000557.5(GDF5):c.388G>A:p.Gly130Arg	coding	Benign/Likely_benign
20	35438501	A	C	A35438501C	GDF5	NM_000557.1(GDF5):c.63T>G	noncoding	Benign
20	35465762	G	A	G35465762A	CEP250	NM_007186.6(CEP250):c.263G>A:p.Trp88Ter	coding	Pathogenic
20	35466065	C	T	C35466065T	CEP250	NM_007186.6(CEP250):c.353C>T:p.Thr118Ile	coding	Benign
20	35466904	T	C	T35466904C	CEP250	NM_007186.6(CEP250):c.493-62T>C	noncoding	Benign
20	35467369	G	A	G35467369A	CEP250	NM_007186.6(CEP250):c.665G>A:p.Arg222His	coding	Benign
20	35469974	A	G	A35469974G	CEP250	NM_007186.6(CEP250):c.936A>G:p.Thr312=	coding	Benign
20	35472461	T	C	T35472461C	CEP250	NM_007186.6(CEP250):c.1051-212T>C	noncoding	Benign
20	35473370	A	G	A35473370G	CEP250	NM_007186.6(CEP250):c.1210-4A>G	noncoding	Benign
20	35473949	C	T	C35473949T	CEP250	NM_007186.6(CEP250):c.1468C>T:p.Arg490Ter	coding	Pathogenic
20	35474093	T	C	T35474093C	CEP250	NM_007186.6(CEP250):c.1571+41T>C	noncoding	Benign
20	35475270	C	T	C35475270T	CEP250	NM_007186.6(CEP250):c.1572-232C>T	noncoding	Benign
20	35475582	C	A	C35475582A	CEP250	NM_007186.6(CEP250):c.1652C>A:p.Ser551Ter	coding	Pathogenic
20	35476653	C	T	C35476653T	CEP250	NM_007186.6(CEP250):c.1863+58C>T	noncoding	Benign
20	35476676	C	G	C35476676G	CEP250	NM_007186.6(CEP250):c.1863+81C>G	noncoding	Benign
20	35477978	G	A	G35477978A	CEP250	NM_007186.6(CEP250):c.1971G>A:p.Leu657=	coding	Benign
20	35479291	C	T	C35479291T	CEP250	NM_007186.6(CEP250):c.2155C>T:p.Arg719Ter	coding	Pathogenic
20	35479410	A	G	A35479410G	CEP250	NM_007186.6(CEP250):c.2274A>G:p.Gln758=	coding	Benign
20	35479740	C	T	C35479740T	CEP250	NM_007186.6(CEP250):c.2383C>T:p.Gln795Ter	coding	Pathogenic
20	35480157	A	G	A35480157G	CEP250	NM_007186.6(CEP250):c.2586+12A>G	noncoding	Benign
20	35480164	C	T	C35480164T	CEP250	NM_007186.6(CEP250):c.2586+19C>T	noncoding	Benign
20	35480335	A	G	A35480335G	CEP250	NM_007186.6(CEP250):c.2586+190A>G	noncoding	Benign
20	35491196	C	G	C35491196G	CEP250	NM_007186.6(CEP250):c.2755-16C>G	noncoding	Benign
20	35491305	C	T	C35491305T	CEP250	NM_007186.6(CEP250):c.2848C>T:p.Arg950Ter	coding	Pathogenic
20	35491411	G	A	G35491411A	CEP250	NM_007186.6(CEP250):c.2889+65G>A	noncoding	Benign
20	35493600	A	G	A35493600G	CEP250	NM_007186.6(CEP250):c.3033+28A>G	noncoding	Benign
20	35494581	C	T	C35494581T	CEP250	NM_007186.6(CEP250):c.3091C>T:p.Gln1031Ter	coding	Pathogenic
20	35494622	C	T	C35494622T	CEP250	NM_007186.6(CEP250):c.3132C>T:p.Asn1044=	coding	Benign
20	35494855	T	C	T35494855C	CEP250	NM_007186.6(CEP250):c.3167+198T>C	noncoding	Benign
20	35496646	A	G	A35496646G	CEP250	NM_007186.6(CEP250):c.3237A>G:p.Gln1079=	coding	Benign
20	35496921	A	G	A35496921G	CEP250	NM_007186.6(CEP250):c.3306+206A>G	noncoding	Benign
20	35497699	G	A	G35497699A	CEP250	NM_007186.6(CEP250):c.3307-20G>A	noncoding	Benign
20	35497814	G	A	G35497814A	CEP250	NM_007186.6(CEP250):c.3402G>A:p.Thr1134=	coding	Benign
20	35497881	C	T	C35497881T	CEP250	NM_007186.6(CEP250):c.3469C>T:p.Arg1157Cys	coding	Benign
20	35497911	G	T	G35497911T	CEP250	NM_007186.6(CEP250):c.3499G>T:p.Ala1167Ser	coding	Benign
20	35498351	G	C	G35498351C	CEP250	NM_007186.6(CEP250):c.3656-244G>C	noncoding	Benign
20	35499909	A	G	A35499909G	CEP250	NM_007186.6(CEP250):c.3778-140A>G	noncoding	Benign
20	35500070	C	T	C35500070T	CEP250	NM_007186.6(CEP250):c.3799C>T:p.Gln1267Ter	coding	Pathogenic
20	35501891	G	T	G35501891T	CEP250	NM_007186.6(CEP250):c.3945G>T:p.Leu1315=	coding	Benign
20	35501913	G	A	G35501913A	CEP250	NM_007186.6(CEP250):c.3967G>A:p.Ala1323Thr	coding	Benign
20	35501952	C	T	C35501952T	CEP250	NM_007186.6(CEP250):c.4006C>T:p.Arg1336Ter	coding	Pathogenic/Likely_pathogenic
20	35502396	C	T	C35502396T	CEP250	NM_007186.6(CEP250):c.4027C>T:p.Arg1343Ter	coding	Pathogenic
20	35502691	G	A	G35502691A	CEP250	NM_007186.6(CEP250):c.4322G>A:p.Arg1441Gln	coding	Benign
20	35502854	C	T	C35502854T	CEP250	NM_007186.6(CEP250):c.4485C>T:p.Ala1495=	coding	Benign
20	35503939	G	A	G35503939A	CEP250	NM_007186.6(CEP250):c.5570G>A:p.Arg1857His	coding	Benign
20	35504094	C	T	C35504094T	CEP250	NM_007186.6(CEP250):c.5725C>T:p.Gln1909Ter	coding	Pathogenic
20	35504167	C	A	C35504167A	CEP250	NM_007186.6(CEP250):c.5798C>A:p.Ala1933Glu	coding	Benign
20	35504248	G	A	G35504248A	CEP250	NM_007186.6(CEP250):c.5879G>A:p.Arg1960Gln	coding	Benign
20	35504328	C	T	C35504328T	CEP250	NM_007186.6(CEP250):c.5959C>T:p.Gln1987Ter	coding	Pathogenic
20	35504483	G	A	G35504483A	CEP250	NM_007186.6(CEP250):c.6114G>A:p.Gln2038=	coding	Benign
20	35504526	C	T	C35504526T	CEP250	NM_007186.6(CEP250):c.6157C>T:p.His2053Tyr	coding	Benign
20	35504529	C	T	C35504529T	CEP250	NM_007186.6(CEP250):c.6160C>T:p.Gln2054Ter	coding	Pathogenic
20	35504727	A	G	A35504727G	CEP250	NM_007186.6(CEP250):c.6358A>G:p.Asn2120Asp	coding	Benign
20	35504755	A	G	A35504755G	CEP250	NM_007186.6(CEP250):c.6386A>G:p.His2129Arg	coding	Benign
20	35504891	G	A	G35504891A	CEP250	NM_007186.6(CEP250):c.6522G>A:p.Gln2174=	coding	Benign
20	35507987	A	G	A35507987G	CEP250	NM_007186.6(CEP250):c.6751-48A>G	noncoding	Benign
20	35508079	G	A	G35508079A	CEP250	NM_007186.6(CEP250):c.6795G>A:p.Lys2265=	coding	Benign
20	35508110	C	T	C35508110T	CEP250	NM_007186.6(CEP250):c.6826C>T:p.Gln2276Ter	coding	Pathogenic
20	35508182	T	C	T35508182C	CEP250	NM_007186.6(CEP250):c.6898T>C:p.Leu2300=	coding	Benign
20	35508752	T	C	T35508752C	CEP250	NM_007186.6(CEP250):c.6907-191T>C	noncoding	Benign
20	35508896	A	G	A35508896G	CEP250	NM_007186.6(CEP250):c.6907-47A>G	noncoding	Benign
20	35510140	C	G	C35510140G	CEP250	NM_007186.6(CEP250):c.7065+86C>G	noncoding	Benign
20	35655095	C	T	C35655095T	RBM12	NM_006047.6(RBM12):c.228G>A:p.Lys76=	coding	Benign
20	35669362	G	T	G35669362T	NFS1	NM_021100.5(NFS1):c.*260C>A	noncoding	Benign
20	35669429	T	C	T35669429C	NFS1	NM_021100.5(NFS1):c.*193A>G	noncoding	Benign
20	35669644	C	T	C35669644T	NFS1	NM_021100.5(NFS1):c.1352G>A:p.Ser451Asn	coding	Benign/Likely_benign
20	35673700	C	G	C35673700G	NFS1	NM_021100.5(NFS1):c.1137-16G>C	noncoding	Benign/Likely_benign
20	35690537	T	C	T35690537C	NFS1	NM_021100.5(NFS1):c.437A>G:p.Lys146Arg	coding	Benign/Likely_benign
20	35696631	C	A	C35696631A	NFS1	NM_021100.5(NFS1):c.325-171G>T	noncoding	Benign
20	35697427	G	A	G35697427A	NFS1	NM_021100.5(NFS1):c.324+257C>T	noncoding	Benign
20	35697793	C	T	C35697793T	NFS1	NM_021100.5(NFS1):c.215G>A:p.Arg72Gln	coding	Pathogenic
20	35698329	G	T	G35698329T	NFS1	NM_021100.5(NFS1):c.207+152C>A	noncoding	Benign
20	35698522	G	A	G35698522A	NFS1	NM_021100.5(NFS1):c.166C>T:p.Leu56=	coding	Benign
20	36173888	C	T	C36173888T	EPB41L1	NM_012156.2(EPB41L1):c.111C>T:p.His37=	coding	Benign/Likely_benign
20	36606026	G	A	G36606026A	RAB5IF	NM_018840.5(RAB5IF):c.75G>A:p.Trp25Ter	coding	Pathogenic/Likely_pathogenic
20	36893256	C	T	C36893256T	SAMHD1	NM_015474.4(SAMHD1):c.1747-190G>A	coding	Benign
20	36897917	G	A	G36897917A	SAMHD1	NM_015474.4(SAMHD1):c.1651C>T:p.Arg551Ter	coding	Pathogenic
20	36898481	T	A	T36898481A	SAMHD1	NM_015474.4(SAMHD1):c.1567A>T:p.Lys523Ter	coding	Pathogenic
20	36904225	C	A	C36904225A	SAMHD1	NM_015474.4(SAMHD1):c.1435G>T:p.Glu479Ter	coding	Pathogenic
20	36905059	C	T	C36905059T	SAMHD1	NM_015474.4(SAMHD1):c.1410+305G>A	noncoding	Benign
20	36911455	C	G	C36911455G	SAMHD1	NM_015474.4(SAMHD1):c.1155-122G>C	noncoding	Benign
20	36912492	G	A	G36912492A	SAMHD1	NM_015474.4(SAMHD1):c.1123C>T:p.Gln375Ter	coding	Pathogenic
20	36917041	A	T	A36917041T	SAMHD1	NM_015474.4(SAMHD1):c.861T>A:p.Tyr287Ter	coding	Pathogenic
20	36919513	G	A	G36919513A	SAMHD1	NM_015474.4(SAMHD1):c.703C>T:p.Gln235Ter	coding	Pathogenic
20	36927185	C	T	C36927185T	SAMHD1	NM_015474.4(SAMHD1):c.693G>A:p.Trp231Ter	coding	Pathogenic
20	36927508	A	G	A36927508G	SAMHD1	NM_015474.4(SAMHD1):c.626-256T>C	noncoding	Benign
20	36927518	C	T	C36927518T	SAMHD1	NM_015474.4(SAMHD1):c.626-266G>A	noncoding	Benign
20	36930949	A	C	A36930949C	SAMHD1	NM_015474.4(SAMHD1):c.510-74T>G	noncoding	Benign
20	36935221	C	T	C36935221T	SAMHD1	NM_015474.4(SAMHD1):c.349-32G>A	noncoding	Benign
20	36941021	A	C	A36941021C	SAMHD1	NM_015474.4(SAMHD1):c.348+18T>G	noncoding	Benign
20	36941071	G	A	G36941071A	SAMHD1	NM_015474.4(SAMHD1):c.316C>T:p.Arg106Ter	coding	Pathogenic
20	36941216	G	T	G36941216T	SAMHD1	NM_015474.4(SAMHD1):c.276-105C>A	noncoding	Benign
20	36951278	T	C	T36951278C	SAMHD1	NM_015474.4(SAMHD1):c.208+158A>G	noncoding	Benign
20	36951448	T	A	T36951448A	SAMHD1	NM_015474.4(SAMHD1):c.196A>T:p.Lys66Ter	coding	Pathogenic
20	36951463	C	A	C36951463A	SAMHD1	NM_015474.4(SAMHD1):c.181G>T:p.Glu61Ter	coding	Pathogenic
20	36951517	T	A	T36951517A	SAMHD1	NM_015474.4(SAMHD1):c.127A>T:p.Lys43Ter	coding	Pathogenic
20	36951535	C	A	C36951535A	SAMHD1	NM_015474.4(SAMHD1):c.109G>T:p.Glu37Ter	coding	Pathogenic
20	36951576	G	C	G36951576C	SAMHD1	NM_015474.4(SAMHD1):c.68C>G:p.Ser23Ter	coding	Pathogenic
20	37179610	C	T	C37179610T	RPN2	NM_002951.5(RPN2):c.13+241C>T	noncoding	Benign
20	37184123	C	A	C37184123A	RPN2	NM_002951.5(RPN2):c.14-57C>A	noncoding	Benign
20	37198280	T	G	T37198280G	RPN2	NM_002951.5(RPN2):c.208-117T>G	noncoding	Benign
20	37198506	C	T	C37198506T	RPN2	NM_002951.5(RPN2):c.303+14C>T	noncoding	Benign
20	37199279	G	T	G37199279T	RPN2	NM_002951.5(RPN2):c.479+54G>T	noncoding	Benign
20	37199439	A	G	A37199439G	RPN2	NM_002951.5(RPN2):c.479+214A>G	noncoding	Benign
20	37205047	A	G	A37205047G	RPN2	NM_002951.5(RPN2):c.690+146A>G	noncoding	Benign
20	37207095	A	G	A37207095G	RPN2	NM_002951.5(RPN2):c.691-178A>G	noncoding	Benign
20	37207254	C	T	C37207254T	RPN2	NM_002951.5(RPN2):c.691-19C>T	noncoding	Benign
20	37207423	G	A	G37207423A	RPN2	NM_002951.5(RPN2):c.841G>A:p.Asp281Asn	coding	Benign/Likely_benign
20	37207486	A	G	A37207486G	RPN2	NM_002951.5(RPN2):c.867+37A>G	noncoding	Benign
20	37209969	T	A	T37209969A	RPN2	NM_002951.5(RPN2):c.868-78T>A	noncoding	Benign
20	37210188	T	C	T37210188C	RPN2	NM_002951.5(RPN2):c.986+23T>C	noncoding	Benign
20	37210353	G	A	G37210353A	RPN2	NM_002951.5(RPN2):c.986+188G>A	noncoding	Benign
20	37223906	G	A	G37223906A	RPN2	NM_002951.5(RPN2):c.1121G>A:p.Gly374Asp	coding	Benign/Likely_benign
20	37223992	A	C	A37223992C	RPN2	NM_002951.5(RPN2):c.1184+23A>C	noncoding	Benign
20	37224047	G	C	G37224047C	RPN2	NM_002951.5(RPN2):c.1184+78G>C	noncoding	Benign
20	37224083	A	G	A37224083G	RPN2	NM_002951.5(RPN2):c.1184+114A>G	noncoding	Benign
20	37225606	A	G	A37225606G	RPN2	NM_002951.5(RPN2):c.1185-82A>G	noncoding	Benign
20	37228530	T	G	T37228530G	RPN2	NM_002951.5(RPN2):c.1300-20T>G	noncoding	Benign
20	37228622	G	T	G37228622T	RPN2	NM_002951.5(RPN2):c.1372G>T:p.Val458Leu	coding	Benign
20	37232027	G	A	G37232027A	RPN2	NM_002951.5(RPN2):c.1582-269G>A	noncoding	Benign
20	37232377	C	T	C37232377T	RPN2	NM_002951.5(RPN2):c.1663C>T:p.Leu555=	coding	Benign
20	37232385	C	T	C37232385T	RPN2	NM_002951.5(RPN2):c.1671C>T:p.Phe557=	coding	Benign
20	37234013	C	G	C37234013G	RPN2	NM_002951.5(RPN2):c.1678-7C>G	noncoding	Benign
20	37234141	T	A	T37234141A	RPN2	NM_002951.5(RPN2):c.1753+46T>A	noncoding	Benign
20	37234305	T	C	T37234305C	RPN2	NM_002951.5(RPN2):c.1753+210T>C	noncoding	Benign
20	37236948	G	A	G37236948A	RPN2	NM_002951.5(RPN2):c.1883+239G>A	noncoding	Benign
20	37238662	A	G	A37238662G	RPN2	NM_002951.5(RPN2):c.1883+1953A>G	noncoding	Benign
20	37241135	A	G	A37241135G	RPN2	NM_002951.5(RPN2):c.1884-168A>G	noncoding	Benign
20	37241216	C	T	C37241216T	RPN2	NM_002951.5(RPN2):c.1884-87C>T	noncoding	Benign
20	37384614	A	G	A37384614G	SRC	NM_198291.3(SRC):c.250+211A>G	noncoding	Benign
20	37384620	A	G	A37384620G	SRC	NM_198291.3(SRC):c.250+217A>G	noncoding	Benign
20	37384622	A	G	A37384622G	SRC	NM_198291.3(SRC):c.250+219A>G	noncoding	Benign
20	37384626	A	G	A37384626G	SRC	NM_198291.3(SRC):c.250+223A>G	noncoding	Benign
20	37384638	T	G	T37384638G	SRC	NM_198291.3(SRC):c.250+235T>G	noncoding	Benign
20	37384640	A	T	A37384640T	SRC	NM_198291.3(SRC):c.250+237A>T	noncoding	Benign
20	37384641	T	G	T37384641G	SRC	NM_198291.3(SRC):c.250+238T>G	noncoding	Benign
20	37384646	T	C	T37384646C	SRC	NM_198291.3(SRC):c.250+243T>C	noncoding	Benign
20	37384650	A	G	A37384650G	SRC	NM_198291.3(SRC):c.250+247A>G	noncoding	Benign
20	37384652	T	G	T37384652G	SRC	NM_198291.3(SRC):c.250+249T>G	noncoding	Benign
20	37384660	T	G	T37384660G	SRC	NM_198291.3(SRC):c.250+257T>G	noncoding	Benign
20	37384662	A	G	A37384662G	SRC	NM_198291.3(SRC):c.250+259A>G	noncoding	Benign
20	37384677	A	G	A37384677G	SRC	NM_198291.3(SRC):c.250+274A>G	noncoding	Benign
20	37384700	T	C	T37384700C	SRC	NM_198291.3(SRC):c.250+297T>C	noncoding	Benign
20	37402255	C	T	C37402255T	SRC	NM_198291.3(SRC):c.1117-180C>T	noncoding	Benign
20	37859902	A	G	A37859902G	CTNNBL1	NM_030877.5(CTNNBL1):c.1396A>G:p.Met466Val	coding	Pathogenic
20	38570848	G	A	G38570848A	RALGAPB	NM_020336.4(RALGAPB):c.4142+1G>A	coding	Pathogenic
20	40688309	T	A	T40688309A	MAFB	NM_005461.5(MAFB):c.542A>T:p.Gln181Leu	coding	Benign
20	40689482	G	C	G40689482C	MAFB	Single_allele	noncoding	Benign
20	41185089	G	A	G41185089A	ZHX3	NM_001384317.1(ZHX3):c.*102C>T	noncoding	Benign
20	41202259	T	C	T41202259C	ZHX3	NM_001384317.1(ZHX3):c.2658A>G:p.Lys886=	coding	Benign
20	41202655	A	C	A41202655C	ZHX3	NM_001384317.1(ZHX3):c.2262T>G:p.Asp754Glu	coding	Benign
20	41202668	T	A	T41202668A	ZHX3	NM_001384317.1(ZHX3):c.2249A>T:p.Asp750Val	coding	Benign
20	41202708	C	T	C41202708T	ZHX3	NM_001384317.1(ZHX3):c.2209G>A:p.Ala737Thr	coding	Benign
20	41202847	C	T	C41202847T	ZHX3	NM_001384317.1(ZHX3):c.2070G>A:p.Glu690=	coding	Benign
20	41203678	G	A	G41203678A	ZHX3	NM_001384317.1(ZHX3):c.1239C>T:p.His413=	coding	Benign
20	41203731	C	T	C41203731T	ZHX3	NM_001384317.1(ZHX3):c.1186G>A:p.Val396Ile	coding	Benign
20	41203855	G	C	G41203855C	ZHX3	NM_001384317.1(ZHX3):c.1062C>G:p.Ala354=	coding	Benign
20	41203988	T	C	T41203988C	ZHX3	NM_001384317.1(ZHX3):c.929A>G:p.Asn310Ser	coding	Benign
20	41204161	G	A	G41204161A	ZHX3	NM_001384317.1(ZHX3):c.756C>T:p.Ala252=	coding	Benign
20	41451015	G	C	G41451015C	CHD6	NM_032221.5(CHD6):c.3614C>G:p.Ala1205Gly	coding	Benign
20	41487827	C	T	C41487827T	CHD6	NM_032221.5(CHD6):c.1858-19G>A	noncoding	Benign
20	42079239	C	T	C42079239T	PTPRT	NM_007050.6(PTPRT):c.*1640G>A	noncoding	Benign
20	42677960	A	G	A42677960G	PTPRT	NM_007050.6(PTPRT):c.1059T>C:p.Asp353=	coding	Benign
20	43596474	G	A	G43596474A	IFT52	NM_016004.5(IFT52):c.159G>A:p.Val53=	coding	Benign
20	43613812	T	A	T43613812A	IFT52	NM_016004.5(IFT52):c.486-38T>A	noncoding	Benign
20	43614060	C	T	C43614060T	IFT52	NM_016004.5(IFT52):c.612+84C>T	noncoding	Benign
20	43619166	C	T	C43619166T	IFT52	NM_016004.5(IFT52):c.699+140C>T	noncoding	Benign
20	43620758	C	T	C43620758T	IFT52	NM_016004.5(IFT52):c.700-99C>T	noncoding	Benign
20	43623685	G	T	G43623685T	IFT52	NM_016004.5(IFT52):c.769-206G>T	noncoding	Benign
20	43623929	A	G	A43623929G	IFT52	NM_016004.5(IFT52):c.807A>G:p.Leu269=	coding	Benign
20	43635862	G	A	G43635862A	IFT52	NM_016004.5(IFT52):c.924-64G>A	noncoding	Benign
20	43636013	G	A	G43636013A	IFT52	NM_016004.5(IFT52):c.1011G>A:p.Ala337=	coding	Benign
20	43636086	T	C	T43636086C	IFT52	NM_016004.5(IFT52):c.1011+73T>C	noncoding	Benign
20	43637060	T	C	T43637060C	IFT52	NM_016004.5(IFT52):c.1012-85T>C	noncoding	Benign
20	43642281	T	C	T43642281C	IFT52	NM_016004.5(IFT52):c.1121-198T>C	noncoding	Benign
20	43642639	A	G	A43642639G	IFT52	NM_016004.5(IFT52):c.1266+15A>G	noncoding	Benign
20	43642734	T	G	T43642734G	IFT52	NM_016004.5(IFT52):c.1266+110T>G	noncoding	Benign
20	43646859	G	T	G43646859T	IFT52	NM_016004.5(IFT52):c.1267-77G>T	noncoding	Benign
20	44113260	C	T	C44113260T	JPH2	NM_020433.5(JPH2):c.*258G>A	noncoding	Benign
20	44113618	T	G	T44113618G	JPH2	NM_020433.5(JPH2):c.*15-115A>C	noncoding	Benign
20	44114513	G	A	G44114513A	JPH2	NM_020433.5(JPH2):c.*14+269C>T	noncoding	Benign
20	44114609	T	C	T44114609C	JPH2	NM_020433.5(JPH2):c.*14+173A>G	noncoding	Benign
20	44114893	G	A	G44114893A	JPH2	NM_020433.5(JPH2):c.2011-17C>T	noncoding	Benign
20	44115519	C	G	C44115519G	JPH2	NM_020433.5(JPH2):c.2010+146G>C	noncoding	Benign
20	44115654	G	A	G44115654A	JPH2	NM_020433.5(JPH2):c.2010+11C>T	noncoding	Benign/Likely_benign
20	44115944	C	T	C44115944T	JPH2	NM_020433.5(JPH2):c.1731G>A:p.Glu577=	coding	Benign/Likely_benign
20	44116109	C	T	C44116109T	JPH2	NM_020433.5(JPH2):c.1566G>A:p.Arg522=	coding	Benign/Likely_benign
20	44116265	C	T	C44116265T	JPH2	NM_020433.5(JPH2):c.1410G>A:p.Pro470=	coding	Benign/Likely_benign
20	44159495	T	C	T44159495C	JPH2	NM_020433.5(JPH2):c.1169+123A>G	noncoding	Benign
20	44160139	C	T	C44160139T	JPH2	NM_020433.5(JPH2):c.648G>A:p.Lys216=	coding	Benign/Likely_benign
20	44160215	G	C	G44160215C	JPH2	NM_020433.5(JPH2):c.572C>G:p.Pro191Arg	coding	Benign/Likely_benign
20	44160319	G	C	G44160319C	JPH2	NM_020433.5(JPH2):c.468C>G:p.Arg156=	coding	Benign
20	44178268	A	G	A44178268G	JPH2	NM_020433.5(JPH2):c.379+8059T>C	noncoding	Benign
20	44186250	G	A	G44186250A	JPH2	NM_020433.5(JPH2):c.379+77C>T	noncoding	Benign
20	44186307	G	A	G44186307A	JPH2	NM_020433.5(JPH2):c.379+20C>T	noncoding	Benign/Likely_benign
20	44187098	G	T	G44187098T	JPH2	NM_020433.5(JPH2):c.-393C>A	noncoding	Benign
20	44187106	C	T	C44187106T	JPH2	NM_020433.5(JPH2):c.-401G>A	noncoding	Benign
20	44187155	C	G	C44187155G	JPH2	NM_020433.5(JPH2):c.-450G>C	noncoding	Benign
20	44306494	A	G	A44306494G	FITM2	NM_001080472.4(FITM2):c.*131T>C	noncoding	Benign
20	44310786	T	G	T44310786G	FITM2	NM_001080472.4(FITM2):c.173+190A>C	noncoding	Benign
20	44311245	T	A	T44311245A	FITM2	Single_allele	noncoding	Benign
20	44355624	G	A	G44355624A	HNF4A	NM_175914.5(HNF4A):c.-181G>A	noncoding	Pathogenic
20	44355624	G	C	G44355624C	HNF4A	NM_175914.5(HNF4A):c.-181G>C	noncoding	Pathogenic
20	44355852	C	A	C44355852A	HNF4A	NM_175914.5(HNF4A):c.48C>A:p.Tyr16Ter	coding	Pathogenic
20	44355852	C	G	C44355852G	HNF4A	NM_175914.5(HNF4A):c.48C>G:p.Tyr16Ter	coding	Pathogenic
20	44401024	T	C	T44401024C	HNF4A	NM_175914.5(HNF4A):c.50-5034T>C	noncoding	Benign
20	44401671	A	C	A44401671C	HNF4A	NM_175914.5(HNF4A):c.50-4387A>C	noncoding	Benign
20	44405828	A	G	A44405828G	HNF4A	NM_175914.5(HNF4A):c.50-230A>G	noncoding	Benign
20	44405832	C	T	C44405832T	HNF4A	NM_175914.5(HNF4A):c.50-226C>T	noncoding	Benign
20	44405873	C	G	C44405873G	HNF4A	NM_175914.5(HNF4A):c.50-185C>G	noncoding	Benign
20	44406089	C	T	C44406089T	HNF4A	NM_175914.5(HNF4A):c.81C>T:p.Asn27=	coding	Benign/Likely_benign
20	44406146	G	A	G44406146A	HNF4A	NM_175914.5(HNF4A):c.138G>A:p.Thr46=	coding	Benign/Likely_benign
20	44407103	A	G	A44407103G	HNF4A	NM_175914.5(HNF4A):c.225-278A>G	noncoding	Benign
20	44407140	C	T	C44407140T	HNF4A	NM_175914.5(HNF4A):c.225-241C>T	noncoding	Benign
20	44410142	T	C	T44410142C	HNF4A	NM_175914.5(HNF4A):c.319+2667T>C	noncoding	Benign
20	44413696	G	A	G44413696A	HNF4A	NM_175914.5(HNF4A):c.322G>A:p.Val108Ile	coding	Pathogenic/Likely_pathogenic
20	44413699	C	T	C44413699T	HNF4A	NM_175914.5(HNF4A):c.325C>T:p.Gln109Ter	coding	Pathogenic
20	44413709	G	A	G44413709A	HNF4A	NM_175914.5(HNF4A):c.335G>A:p.Arg112Gln	coding	Pathogenic/Likely_pathogenic
20	44413726	C	T	C44413726T	HNF4A	NM_175914.5(HNF4A):c.352C>T:p.Arg118Ter	coding	Pathogenic
20	44414616	G	A	G44414616A	HNF4A	NM_175914.5(HNF4A):c.536G>A:p.Trp179Ter	coding	Pathogenic
20	44414617	G	A	G44414617A	HNF4A	NM_175914.5(HNF4A):c.537G>A:p.Trp179Ter	coding	Pathogenic
20	44414642	G	T	G44414642T	HNF4A	NM_175914.5(HNF4A):c.562G>T:p.Glu188Ter	coding	Pathogenic
20	44424103	C	A	C44424103A	HNF4A	NM_175914.5(HNF4A):c.912C>A:p.Arg304=	coding	Benign
20	44424115	G	T	G44424115T	HNF4A	NM_175914.5(HNF4A):c.924G>T:p.Ser308=	coding	Benign/Likely_benign
20	44424141	T	G	T44424141G	HNF4A	NM_175914.5(HNF4A):c.950T>G:p.Leu317Arg	coding	Pathogenic
20	44424147	T	C	T44424147C	HNF4A	NM_175914.5(HNF4A):c.956T>C:p.Leu319Pro	coding	Pathogenic
20	44424172	G	A	G44424172A	HNF4A	NM_175914.5(HNF4A):c.981G>A:p.Trp327Ter	coding	Pathogenic
20	44424224	G	T	G44424224T	HNF4A	NM_175914.5(HNF4A):c.1033G>T:p.Asp345Tyr	coding	Pathogenic
20	44428334	G	T	G44428334T	HNF4A	NM_175914.5(HNF4A):c.1064-1G>T	noncoding	Pathogenic
20	44620200	G	A	G44620200A	ADA	NM_000022.4(ADA):c.1078+99C>T	noncoding	Benign
20	44620212	T	C	T44620212C	ADA	NM_000022.4(ADA):c.1078+87A>G	noncoding	Benign
20	44620353	C	A	C44620353A	ADA	NM_000022.4(ADA):c.1024G>T:p.Glu342Ter	coding	Pathogenic
20	44620950	C	T	C44620950T	ADA	NM_000022.4(ADA):c.975+68G>A	noncoding	Benign
20	44621123	G	T	G44621123T	ADA	NM_000022.4(ADA):c.870C>A:p.Tyr290Ter	coding	Pathogenic
20	44622793	C	T	C44622793T	ADA	NM_000022.4(ADA):c.780+36G>A	noncoding	Benign
20	44622846	C	A	C44622846A	ADA	NM_000022.4(ADA):c.763G>T:p.Glu255Ter	coding	Pathogenic
20	44622849	G	A	G44622849A	ADA	NM_000022.4(ADA):c.760C>T:p.Gln254Ter	coding	Pathogenic
20	44623126	G	A	G44623126A	ADA	NM_000022.4(ADA):c.607-48C>T	noncoding	Benign
20	44624205	G	T	G44624205T	ADA	NM_000022.4(ADA):c.603C>A:p.Tyr201Ter	coding	Pathogenic
20	44624490	C	T	C44624490T	ADA	NM_000022.4(ADA):c.479-161G>A	noncoding	Benign
20	44625626	C	A	C44625626A	ADA	NM_000022.4(ADA):c.421G>T:p.Glu141Ter	coding	Pathogenic
20	44626468	C	T	C44626468T	ADA	NM_000022.4(ADA):c.350G>A:p.Trp117Ter	coding	Pathogenic/Likely_pathogenic
20	44626481	C	A	C44626481A	ADA	NM_000022.4(ADA):c.337G>T:p.Glu113Ter	coding	Pathogenic
20	44626507	G	A	G44626507A	ADA	NM_000022.4(ADA):c.311C>T:p.Pro104Leu	coding	Pathogenic
20	44626512	G	C	G44626512C	ADA	NM_000022.4(ADA):c.306C>G:p.Tyr102Ter	coding	Pathogenic
20	44626597	C	A	C44626597A	ADA	NM_000022.4(ADA):c.221G>T:p.Gly74Val	coding	Pathogenic
20	44628765	C	T	C44628765T	ADA	NM_000022.4(ADA):c.218+282G>A	noncoding	Benign
20	44629064	G	C	G44629064C	ADA	NM_000022.4(ADA):c.201C>G:p.Tyr67Ter	coding	Pathogenic
20	44629333	C	T	C44629333T	ADA	NM_000022.4(ADA):c.96-164G>A	noncoding	Benign
20	44629334	T	C	T44629334C	ADA	NM_000022.4(ADA):c.96-165A>G	noncoding	Benign
20	44636050	C	G	C44636050G	ADA	NM_000022.4(ADA):c.95+177G>C	noncoding	Benign
20	44636062	T	C	T44636062C	ADA	NM_000022.4(ADA):c.95+165A>G	noncoding	Benign
20	44636543	T	G	T44636543G	ADA	NM_000022.4(ADA):c.34-255A>C	noncoding	Benign
20	44636571	G	A	G44636571A	ADA	NM_000022.4(ADA):c.34-283C>T	noncoding	Benign
20	44930524	C	T	C44930524T	PABPC1L	NM_001372179.1(PABPC1L):c.1037C>T:p.Ala346Val	coding	Pathogenic
20	44972032	C	G	C44972032G	STK4	NM_006282.5(STK4):c.36-46C>G	noncoding	Benign
20	44972066	C	G	C44972066G	STK4	NM_006282.5(STK4):c.36-12C>G	noncoding	Benign
20	44972178	A	G	A44972178G	STK4	NM_006282.5(STK4):c.116+20A>G	noncoding	Benign
20	44981817	C	T	C44981817T	STK4	NM_006282.5(STK4):c.246-12C>T	noncoding	Benign
20	44987144	G	T	G44987144T	STK4	NM_006282.5(STK4):c.373G>T:p.Glu125Ter	coding	Pathogenic
20	44987213	C	T	C44987213T	STK4	NM_006282.5(STK4):c.442C>T:p.Arg148Ter	coding	Pathogenic
20	44987310	T	C	T44987310C	STK4	NM_006282.5(STK4):c.525+14T>C	noncoding	Benign
20	44997233	A	G	A44997233G	STK4	NM_006282.5(STK4):c.758A>G:p.Asn253Ser	coding	Benign
20	45000482	C	T	C45000482T	STK4	NM_006282.5(STK4):c.922C>T:p.Gln308Ter	coding	Pathogenic
20	45000494	G	A	G45000494A	STK4	NM_006282.5(STK4):c.934G>A:p.Val312Met	coding	Benign
20	45304381	G	T	G45304381T	MATN4	NM_001393530.1(MATN4):c.490C>A:p.Arg164Ser	coding	Benign
20	45304523	T	C	T45304523C	MATN4	NM_001393530.1(MATN4):c.348A>G:p.Ala116=	coding	Benign
20	45415871	G	A	G45415871A	PIGT	Single_allele	noncoding	Benign
20	45416515	A	G	A45416515G	PIGT	NM_015937.6(PIGT):c.188-2A>G	noncoding	Pathogenic/Likely_pathogenic
20	45416600	C	T	C45416600T	PIGT	NM_015937.6(PIGT):c.271C>T:p.Gln91Ter	coding	Pathogenic
20	45416930	A	C	A45416930C	PIGT	NM_015937.6(PIGT):c.365+236A>C	noncoding	Benign
20	45416970	G	A	G45416970A	PIGT	NM_015937.6(PIGT):c.365+276G>A	noncoding	Benign
20	45418668	G	A	G45418668A	PIGT	NM_015937.6(PIGT):c.366-184G>A	noncoding	Benign
20	45420648	C	T	C45420648T	PIGT	NM_015937.6(PIGT):c.988C>T:p.Arg330Ter	coding	Pathogenic
20	45420843	G	A	G45420843A	PIGT	NM_015937.6(PIGT):c.1033+150G>A	noncoding	Benign
20	45421702	T	C	T45421702C	PIGT	NM_015937.6(PIGT):c.1234+119T>C	noncoding	Benign
20	45424323	C	T	C45424323T	PIGT	NM_015937.6(PIGT):c.1342C>T:p.Arg448Trp	coding	Pathogenic/Likely_pathogenic
20	45424352	G	A	G45424352A	PIGT	NM_015937.6(PIGT):c.1371G>A:p.Thr457=	coding	Benign
20	45424429	T	C	T45424429C	PIGT	NM_015937.6(PIGT):c.1400+48T>C	noncoding	Benign
20	45891283	G	T	G45891283T	CTSA	NM_000308.3(CTSA):c.-43G>T	noncoding	Benign/Likely_benign
20	45891567	A	G	A45891567G	CTSA	NM_000308.4(CTSA):c.1-2A>G	noncoding	Pathogenic
20	45891698	C	T	C45891698T	CTSA	NM_000308.4(CTSA):c.130C>T:p.Gln44Ter	coding	Pathogenic
20	45892748	C	T	C45892748T	CTSA	NM_000308.4(CTSA):c.468C>T:p.Ala156=	coding	Benign/Likely_benign
20	45892860	G	A	G45892860A	CTSA	NM_000308.4(CTSA):c.580G>A:p.Asp194Asn	coding	Pathogenic
20	45893366	A	G	A45893366G	CTSA	NM_000308.4(CTSA):c.692+55A>G	noncoding	Benign
20	45894163	G	A	G45894163A	CTSA	NM_000308.4(CTSA):c.777+91G>A	noncoding	Benign
20	45894609	T	C	T45894609C	CTSA	NM_000308.4(CTSA):c.778-41T>C	noncoding	Benign
20	45894914	G	T	G45894914T	CTSA	NM_000308.4(CTSA):c.948+13G>T	noncoding	Benign
20	45896999	C	T	C45896999T	CTSA	NM_000308.4(CTSA):c.1123C>T:p.Arg375Ter	coding	Pathogenic
20	45897196	A	C	A45897196C	CTSA	NM_000308.4(CTSA):c.1164+156A>C	noncoding	Benign
20	45897433	G	A	G45897433A	CTSA	NM_000308.4(CTSA):c.1165-284G>A	noncoding	Benign
20	45897484	G	A	G45897484A	CTSA	NM_000308.4(CTSA):c.1165-233G>A	noncoding	Benign
20	45897948	G	A	G45897948A	CTSA	NM_000308.4(CTSA):c.1255-57G>A	noncoding	Benign
20	45899477	C	G	C45899477G	PLTP	NM_006227.4(PLTP):c.1344G>C:p.Val448=	coding	Benign
20	45902304	G	A	G45902304A	PLTP	NM_006227.4(PLTP):c.1138C>T:p.Arg380Trp	coding	Benign
20	45907675	A	G	A45907675G	PLTP	NM_006227.4(PLTP):c.613+17T>C	noncoding	Benign
20	45907744	G	A	G45907744A	PLTP	NM_006227.4(PLTP):c.561C>T:p.Val187=	coding	Benign
20	45909632	C	T	C45909632T	PLTP	NM_006227.4(PLTP):c.369G>A:p.Val123=	coding	Benign
20	45948675	C	T	C45948675T	ZNF335	NM_022095.4(ZNF335):c.*278G>A	noncoding	Benign
20	45949262	G	A	G45949262A	ZNF335	NM_022095.4(ZNF335):c.3820-11C>T	noncoding	Benign/Likely_benign
20	45949891	G	A	G45949891A	ZNF335	NM_022095.4(ZNF335):c.3592-14C>T	noncoding	Benign
20	45950035	T	A	T45950035A	ZNF335	NM_022095.4(ZNF335):c.3522A>T:p.Pro1174=	coding	Benign
20	45950137	A	G	A45950137G	ZNF335	NM_022095.4(ZNF335):c.3488-68T>C	noncoding	Benign
20	45950205	C	G	C45950205G	ZNF335	NM_022095.4(ZNF335):c.3487+14G>C	noncoding	Benign
20	45950322	A	G	A45950322G	ZNF335	NM_022095.4(ZNF335):c.3384T>C:p.Pro1128=	coding	Benign
20	45950360	C	T	C45950360T	ZNF335	NM_022095.4(ZNF335):c.3346G>A:p.Gly1116Arg	coding	Pathogenic/Likely_pathogenic
20	45952709	G	A	G45952709A	ZNF335	NM_022095.4(ZNF335):c.2703C>T:p.Ser901=	coding	Benign
20	45952814	C	G	C45952814G	ZNF335	NM_022095.4(ZNF335):c.2703-105G>C	noncoding	Benign
20	45953365	G	C	G45953365C	ZNF335	NM_022095.4(ZNF335):c.2702+324C>G	noncoding	Benign
20	45953548	A	T	A45953548T	ZNF335	NM_022095.4(ZNF335):c.2702+141T>A	noncoding	Benign
20	45953796	G	T	G45953796T	ZNF335	NM_022095.4(ZNF335):c.2595C>A:p.Asp865Glu	coding	Benign
20	45953891	G	A	G45953891A	ZNF335	NM_022095.4(ZNF335):c.2500C>T:p.Pro834Ser	coding	Benign/Likely_benign
20	45954197	C	T	C45954197T	ZNF335	NM_022095.4(ZNF335):c.2443-249G>A	noncoding	Benign
20	45957384	C	T	C45957384T	ZNF335	NM_022095.4(ZNF335):c.2442+202G>A	noncoding	Benign
20	45957397	G	A	G45957397A	ZNF335	NM_022095.4(ZNF335):c.2442+189C>T	noncoding	Benign
20	45959162	G	A	G45959162A	ZNF335	NM_022095.4(ZNF335):c.2253+39C>T	noncoding	Benign
20	45959191	C	A	C45959191A	ZNF335	NM_022095.4(ZNF335):c.2253+10G>T	noncoding	Benign
20	45959287	A	C	A45959287C	ZNF335	NM_022095.4(ZNF335):c.2167T>G:p.Phe723Val	coding	Benign/Likely_benign
20	45959470	G	A	G45959470A	ZNF335	NM_022095.4(ZNF335):c.2021-37C>T	noncoding	Benign
20	45959507	C	G	C45959507G	ZNF335	NM_022095.4(ZNF335):c.2021-74G>C	noncoding	Benign
20	45959540	G	A	G45959540A	ZNF335	NM_022095.4(ZNF335):c.2021-107C>T	noncoding	Benign
20	45959602	T	C	T45959602C	ZNF335	NM_022095.4(ZNF335):c.2021-169A>G	noncoding	Benign
20	45959643	C	G	C45959643G	ZNF335	NM_022095.4(ZNF335):c.2021-210G>C	noncoding	Benign
20	45959766	A	G	A45959766G	ZNF335	NM_022095.4(ZNF335):c.2021-333T>C	noncoding	Benign
20	45960177	G	C	G45960177C	ZNF335	NM_022095.4(ZNF335):c.2020+31C>G	noncoding	Benign
20	45960438	A	G	A45960438G	ZNF335	NM_022095.4(ZNF335):c.1859+11T>C	noncoding	Benign
20	45962093	G	A	G45962093A	ZNF335	NM_022095.4(ZNF335):c.1623C>T:p.His541=	coding	Benign
20	45962450	G	C	G45962450C	ZNF335	NM_022095.4(ZNF335):c.1534-268C>G	noncoding	Benign
20	45963725	C	T	C45963725T	ZNF335	NM_022095.4(ZNF335):c.1355+13G>A	noncoding	Benign
20	45963997	C	T	C45963997T	ZNF335	NM_022095.4(ZNF335):c.1103-7G>A	noncoding	Benign
20	45964317	C	T	C45964317T	ZNF335	NM_022095.4(ZNF335):c.1103-327G>A	noncoding	Benign
20	45965589	G	A	G45965589A	ZNF335	NM_022095.4(ZNF335):c.1102+39C>T	noncoding	Benign
20	45965936	C	T	C45965936T	ZNF335	NM_022095.4(ZNF335):c.956-162G>A	noncoding	Benign
20	45965956	G	A	G45965956A	ZNF335	NM_022095.4(ZNF335):c.956-182C>T	noncoding	Benign
20	45966087	T	C	T45966087C	ZNF335	NM_022095.4(ZNF335):c.956-313A>G	noncoding	Benign
20	45967568	C	G	C45967568G	ZNF335	NM_022095.4(ZNF335):c.881G>C:p.Ser294Thr	coding	Benign
20	45967688	C	T	C45967688T	ZNF335	NM_022095.4(ZNF335):c.814+46G>A	noncoding	Benign
20	45969564	C	A	C45969564A	ZNF335	NM_022095.4(ZNF335):c.329G>T:p.Ser110Ile	coding	Benign
20	45970031	T	C	T45970031C	ZNF335	NM_022095.4(ZNF335):c.202-340A>G	noncoding	Benign
20	45971200	G	C	G45971200C	ZNF335	NM_022095.4(ZNF335):c.201+10C>G	noncoding	Benign
20	46008985	C	T	C46008985T	MMP9	NM_004994.3(MMP9):c.59C>T:p.Ala20Val	coding	Benign/Likely_benign
20	46010142	A	G	A46010142G	MMP9	NM_004994.3(MMP9):c.371+44A>G	noncoding	Benign
20	46010332	A	C	A46010332C	MMP9	NM_004994.3(MMP9):c.372-151A>C	noncoding	Benign
20	46010872	C	T	C46010872T	MMP9	NM_004994.3(MMP9):c.521-50C>T	noncoding	Benign
20	46011500	G	A	G46011500A	MMP9	NM_004994.3(MMP9):c.824-74G>A	noncoding	Benign
20	46011737	C	A	C46011737A	MMP9	NM_004994.3(MMP9):c.987C>A:p.Cys329Ter	coding	Pathogenic
20	46011936	A	G	A46011936G	MMP9	NM_004994.3(MMP9):c.997+189A>G	noncoding	Benign
20	46013893	T	C	T46013893C	MMP9	NM_004994.3(MMP9):c.1750+97T>C	noncoding	Benign
20	46021679	A	T	A46021679T	SLC12A5	NR_147699.1(SLC12A5-AS1):n.395T>A	noncoding	Benign
20	46022179	A	G	A46022179G	SLC12A5	NM_001134771.2(SLC12A5):c.121+293A>G	noncoding	Benign
20	46029657	G	A	G46029657A	SLC12A5	NM_020708.5(SLC12A5):c.52+261G>A	noncoding	Benign
20	46034836	T	C	T46034836C	SLC12A5	NM_020708.5(SLC12A5):c.53-112T>C	noncoding	Benign
20	46035574	C	T	C46035574T	SLC12A5	NM_020708.5(SLC12A5):c.279+39C>T	noncoding	Benign
20	46035732	C	T	C46035732T	SLC12A5	NM_020708.5(SLC12A5):c.280-45C>T	noncoding	Benign
20	46035854	G	T	G46035854T	SLC12A5	NM_020708.5(SLC12A5):c.357G>T:p.Arg119=	coding	Benign
20	46036456	G	A	G46036456A	SLC12A5	NM_020708.5(SLC12A5):c.427-285G>A	noncoding	Benign
20	46037236	T	C	T46037236C	SLC12A5	NM_020708.5(SLC12A5):c.482-19T>C	noncoding	Benign
20	46045153	G	A	G46045153A	SLC12A5	NM_020708.5(SLC12A5):c.1569+13G>A	noncoding	Benign
20	46045644	C	T	C46045644T	SLC12A5	NM_020708.5(SLC12A5):c.1570-234C>T	noncoding	Benign
20	46046104	A	C	A46046104C	SLC12A5	NM_020708.5(SLC12A5):c.1688+108A>C	noncoding	Benign
20	46046497	T	C	T46046497C	SLC12A5	NM_020708.5(SLC12A5):c.1787+61T>C	noncoding	Benign
20	46047511	G	A	G46047511A	SLC12A5	NM_020708.5(SLC12A5):c.1845G>A:p.Trp615Ter	coding	Pathogenic
20	46047554	A	T	A46047554T	SLC12A5	NM_020708.5(SLC12A5):c.1888A>T:p.Lys630Ter	coding	Pathogenic
20	46047999	C	T	C46047999T	SLC12A5	NM_020708.5(SLC12A5):c.1926C>T:p.Gly642=	coding	Benign
20	46049626	C	T	C46049626T	SLC12A5	NM_020708.5(SLC12A5):c.2017C>T:p.Gln673Ter	coding	Pathogenic
20	46049709	G	A	G46049709A	SLC12A5	NM_020708.5(SLC12A5):c.2100G>A:p.Ala700=	coding	Benign
20	46051773	C	T	C46051773T	SLC12A5	NM_020708.5(SLC12A5):c.2280C>T:p.Ser760=	coding	Benign
20	46051854	G	A	G46051854A	SLC12A5	NM_020708.5(SLC12A5):c.2361G>A:p.Thr787=	coding	Benign
20	46053069	G	A	G46053069A	SLC12A5	NM_020708.5(SLC12A5):c.2490G>A:p.Trp830Ter	coding	Pathogenic
20	46053140	G	A	G46053140A	SLC12A5	NM_020708.5(SLC12A5):c.2547+14G>A	noncoding	Benign
20	46055887	T	A	T46055887A	SLC12A5	NM_020708.5(SLC12A5):c.2788-263T>A	noncoding	Benign
20	46118099	C	T	C46118099T	CD40	Single_allele	noncoding	Benign
20	46118447	G	A	G46118447A	CD40	NM_001250.6(CD40):c.51+53G>A	noncoding	Benign
20	46118465	C	T	C46118465T	CD40	NM_001250.6(CD40):c.51+71C>T	noncoding	Benign
20	46121805	C	T	C46121805T	CD40	NM_001250.6(CD40):c.52-15C>T	noncoding	Benign/Likely_benign
20	46122211	C	G	C46122211G	CD40	NM_001250.6(CD40):c.131-22C>G	noncoding	Benign
20	46122249	T	C	T46122249C	CD40	NM_001250.6(CD40):c.147T>C:p.Ser49=	coding	Benign
20	46122467	G	A	G46122467A	CD40	NM_001250.6(CD40):c.256+109G>A	noncoding	Benign
20	46123130	A	T	A46123130T	CD40	NM_001250.6(CD40):c.408A>T:p.Thr136=	coding	Pathogenic
20	46126472	G	T	G46126472T	CD40	NM_001250.6(CD40):c.498-168G>T	noncoding	Benign
20	46126737	G	C	G46126737C	CD40	NM_001250.6(CD40):c.559+36G>C	coding	Benign
20	46128199	C	T	C46128199T	CD40	NM_001250.6(CD40):c.621C>T:p.Ala207=	coding	Benign/Likely_benign
20	46128252	G	A	G46128252A	CD40	NM_001250.6(CD40):c.646+28G>A	noncoding	Benign
20	46128269	A	C	A46128269C	CD40	NM_001250.6(CD40):c.646+45A>C	noncoding	Benign
20	46128574	A	G	A46128574G	CD40	NM_001250.6(CD40):c.675+216A>G	noncoding	Benign
20	46128768	G	A	G46128768A	CD40	NM_001250.6(CD40):c.676-114G>A	noncoding	Benign
20	46174648	G	A	G46174648A	CDH22	NM_021248.3(CDH22):c.2345C>T:p.Ala782Val	coding	Benign
20	46367543	A	G	A46367543G	ELMO2	NM_133171.5(ELMO2):c.1980T>C:p.Asp660=	coding	Benign
20	46367615	C	A	C46367615A	ELMO2	NM_133171.5(ELMO2):c.1963-55G>T	noncoding	Benign
20	46367666	A	G	A46367666G	ELMO2	NM_133171.5(ELMO2):c.1963-106T>C	noncoding	Benign
20	46369063	C	T	C46369063T	ELMO2	NM_133171.5(ELMO2):c.1885-95G>A	noncoding	Benign
20	46369117	G	A	G46369117A	ELMO2	NM_133171.5(ELMO2):c.1885-149C>T	noncoding	Benign
20	46370389	T	C	T46370389C	ELMO2	NM_133171.5(ELMO2):c.1884+54A>G	noncoding	Benign
20	46370408	C	A	C46370408A	ELMO2	NM_133171.5(ELMO2):c.1884+35G>T	noncoding	Benign
20	46370638	A	G	A46370638G	ELMO2	NM_133171.5(ELMO2):c.1802-113T>C	noncoding	Benign
20	46371319	A	G	A46371319G	ELMO2	NM_133171.5(ELMO2):c.1801+33T>C	noncoding	Benign
20	46371783	G	C	G46371783C	ELMO2	NM_133171.5(ELMO2):c.1580+23C>G	noncoding	Benign
20	46374687	A	G	A46374687G	ELMO2	NM_133171.5(ELMO2):c.1066-47T>C	noncoding	Benign
20	46375149	T	C	T46375149C	ELMO2	NM_133171.5(ELMO2):c.1065+87A>G	noncoding	Benign
20	46375338	C	T	C46375338T	ELMO2	NM_133171.5(ELMO2):c.963G>A:p.Arg321=	coding	Benign
20	46380090	G	A	G46380090A	ELMO2	NM_133171.5(ELMO2):c.807+163C>T	noncoding	Benign
20	46394608	T	C	T46394608C	ELMO2	NM_133171.5(ELMO2):c.-50-76A>G	noncoding	Benign
20	46394647	C	T	C46394647T	ELMO2	NM_133171.5(ELMO2):c.-50-115G>A	noncoding	Benign
20	46563528	G	C	G46563528C	SLC13A3	NM_022829.6(SLC13A3):c.1518C>G:p.Pro506=	coding	Benign
20	46566265	C	G	C46566265G	SLC13A3	NM_022829.6(SLC13A3):c.1458G>C:p.Ala486=	coding	Benign
20	46566394	C	A	C46566394A	SLC13A3	NM_022829.6(SLC13A3):c.1333-4G>T	noncoding	Benign
20	46575627	G	A	G46575627A	SLC13A3	NM_022829.6(SLC13A3):c.1278C>T:p.Pro426=	coding	Benign
20	46588041	G	A	G46588041A	SLC13A3	NM_022829.6(SLC13A3):c.1121+18C>T	noncoding	Benign
20	46588145	A	T	A46588145T	SLC13A3	NM_022829.6(SLC13A3):c.1035T>A:p.Val345=	coding	Benign
20	46589219	A	G	A46589219G	SLC13A3	NM_022829.6(SLC13A3):c.957T>C:p.Asn319=	coding	Benign
20	46592416	C	G	C46592416G	SLC13A3	NM_022829.6(SLC13A3):c.908G>C:p.Gly303Ala	coding	Benign
20	46592421	G	A	G46592421A	SLC13A3	NM_022829.6(SLC13A3):c.903C>T:p.Tyr301=	coding	Benign
20	46592511	G	A	G46592511A	SLC13A3	NM_022829.6(SLC13A3):c.813C>T:p.Asp271=	coding	Benign
20	46610575	A	G	A46610575G	SLC13A3	NM_022829.6(SLC13A3):c.412T>C:p.Leu138=	coding	Benign
20	46613501	G	A	G46613501A	SLC13A3	NM_022829.6(SLC13A3):c.336C>T:p.Ile112=	coding	Benign
20	46613545	T	A	T46613545A	SLC13A3	NM_022829.6(SLC13A3):c.292A>T:p.Ile98Phe	coding	Benign
20	46613630	G	C	G46613630C	SLC13A3	NM_022829.6(SLC13A3):c.207C>G:p.Leu69=	coding	Benign
20	46613719	G	A	G46613719A	SLC13A3	NM_022829.6(SLC13A3):c.118C>T:p.Arg40Cys	coding	Benign
20	46686707	C	T	C46686707T	TP53RK	NM_033550.4(TP53RK):c.*46G>A	noncoding	Benign
20	46687130	T	C	T46687130C	TP53RK	NM_033550.4(TP53RK):c.385A>G:p.Thr129Ala	coding	Benign
20	46687147	C	T	C46687147T	TP53RK	NM_033550.4(TP53RK):c.368G>A:p.Arg123Gln	coding	Benign
20	46689047	C	G	C46689047G	TP53RK	NM_033550.4(TP53RK):c.283+85G>C	noncoding	Benign
20	46689403	G	A	G46689403A	TP53RK	NM_033550.4(TP53RK):c.12C>T:p.Ala4=	coding	Benign
20	46689430	C	G	C46689430G	TP53RK	NM_033550.4(TP53RK):c.-16G>C	noncoding	Benign
20	46725521	G	A	G46725521A	SLC2A10	NM_030777.4(SLC2A10):c.485G>A:p.Trp162Ter	coding	Pathogenic
20	46726884	G	A	G46726884A	SLC2A10	NM_030777.4(SLC2A10):c.1309G>A:p.Glu437Lys	coding	Pathogenic/Likely_pathogenic
20	46729365	T	A	T46729365A	SLC2A10	NM_030777.4(SLC2A10):c.1424T>A:p.Leu475Ter	coding	Pathogenic
20	46729643	T	G	T46729643G	SLC2A10	NM_030777.4(SLC2A10):c.1547+155T>G	noncoding	Benign
20	46733767	G	A	G46733767A	SLC2A10	NM_030777.4(SLC2A10):c.1559G>A:p.Ser520Asn	coding	Benign/Likely_benign
20	47639679	C	G	C47639679G	NCOA3	NM_181659.3(NCOA3):c.2810C>G:p.Ser937Cys	coding	Pathogenic
20	48629539	C	G	C48629539G	PREX1	NM_020820.4(PREX1):c.4676G>C:p.Ser1559Thr	coding	Benign
20	48629589	G	A	G48629589A	PREX1	NM_020820.4(PREX1):c.4626C>T:p.Leu1542=	coding	Benign
20	48646011	C	T	C48646011T	PREX1	NM_020820.4(PREX1):c.3352G>A:p.Ala1118Thr	coding	Benign
20	48951202	C	A	C48951202A	ARFGEF2	NM_006420.3(ARFGEF2):c.277-121C>A	noncoding	Benign
20	48952688	G	A	G48952688A	ARFGEF2	NM_006420.3(ARFGEF2):c.424-17G>A	noncoding	Benign/Likely_benign
20	48953166	T	C	T48953166C	ARFGEF2	NM_006420.3(ARFGEF2):c.603+282T>C	noncoding	Benign
20	48965711	C	G	C48965711G	ARFGEF2	NM_006420.3(ARFGEF2):c.908-161C>G	noncoding	Benign
20	48969159	C	T	C48969159T	ARFGEF2	NM_006420.3(ARFGEF2):c.1072C>T:p.Gln358Ter	coding	Pathogenic
20	48975813	G	A	G48975813A	ARFGEF2	NM_006420.3(ARFGEF2):c.1775-203G>A	noncoding	Benign
20	48984677	A	G	A48984677G	ARFGEF2	NM_006420.3(ARFGEF2):c.1959-52A>G	noncoding	Benign
20	48984972	A	G	A48984972G	ARFGEF2	NM_006420.3(ARFGEF2):c.2070+132A>G	noncoding	Benign
20	48985159	G	T	G48985159T	ARFGEF2	NM_006420.3(ARFGEF2):c.2071-249G>T	noncoding	Benign
20	48985168	G	A	G48985168A	ARFGEF2	NM_006420.3(ARFGEF2):c.2071-240G>A	noncoding	Benign
20	48985802	A	G	A48985802G	ARFGEF2	NM_006420.3(ARFGEF2):c.2276+189A>G	noncoding	Benign
20	48988063	C	T	C48988063T	ARFGEF2	NM_006420.3(ARFGEF2):c.2277-241C>T	noncoding	Benign
20	48988571	T	G	T48988571G	ARFGEF2	NM_006420.3(ARFGEF2):c.2442T>G:p.Tyr814Ter	coding	Pathogenic
20	48989490	G	A	G48989490A	ARFGEF2	NM_006420.3(ARFGEF2):c.2685+54G>A	noncoding	Benign
20	48989506	C	G	C48989506G	ARFGEF2	NM_006420.3(ARFGEF2):c.2686-50C>G	noncoding	Benign
20	48994359	C	T	C48994359T	ARFGEF2	NM_006420.3(ARFGEF2):c.2974-92C>T	noncoding	Benign
20	48995721	T	G	T48995721G	ARFGEF2	NM_006420.3(ARFGEF2):c.3122-62T>G	noncoding	Benign
20	49004835	G	A	G49004835A	ARFGEF2	NM_006420.3(ARFGEF2):c.3433-235G>A	noncoding	Benign
20	49005052	G	A	G49005052A	ARFGEF2	NM_006420.3(ARFGEF2):c.3433-18G>A	noncoding	Benign
20	49010064	G	C	G49010064C	ARFGEF2	NM_006420.3(ARFGEF2):c.3585-168G>C	noncoding	Benign
20	49010199	A	T	A49010199T	ARFGEF2	NM_006420.3(ARFGEF2):c.3585-33A>T	noncoding	Benign
20	49010558	A	G	A49010558G	ARFGEF2	NM_006420.3(ARFGEF2):c.3757+154A>G	noncoding	Benign
20	49011897	T	C	T49011897C	ARFGEF2	NM_006420.3(ARFGEF2):c.3758-27T>C	noncoding	Benign
20	49013648	G	T	G49013648T	ARFGEF2	NM_006420.3(ARFGEF2):c.4003G>T:p.Glu1335Ter	coding	Pathogenic
20	49016545	C	T	C49016545T	ARFGEF2	NM_006420.3(ARFGEF2):c.4315+130C>T	noncoding	Benign
20	49019178	G	A	G49019178A	ARFGEF2	NM_006420.3(ARFGEF2):c.4624+180G>A	noncoding	Benign
20	49028890	G	T	G49028890T	ARFGEF2	NM_006420.3(ARFGEF2):c.5063+222G>T	noncoding	Benign
20	49032317	C	T	C49032317T	ARFGEF2	NM_006420.3(ARFGEF2):c.5181+151C>T	noncoding	Benign
20	49032319	G	A	G49032319A	ARFGEF2	NM_006420.3(ARFGEF2):c.5181+153G>A	noncoding	Benign
20	49254578	G	C	G49254578C	ZNFX1	NM_021035.3(ZNFX1):c.2876C>G:p.Ser959Ter	coding	Pathogenic
20	49255819	C	T	C49255819T	ZNFX1	NM_021035.3(ZNFX1):c.2793G>A:p.Trp931Ter	coding	Pathogenic
20	49271415	T	A	T49271415A	ZNFX1	NM_021035.3(ZNFX1):c.397A>T:p.Lys133Ter	coding	Pathogenic
20	49373035	C	T	C49373035T	KCNB1	NM_004975.4(KCNB1):c.2525G>A:p.Arg842His	coding	Benign
20	49373039	C	T	C49373039T	KCNB1	NM_004975.4(KCNB1):c.2521G>A:p.Val841Ile	coding	Benign
20	49373045	G	A	G49373045A	KCNB1	NM_004975.4(KCNB1):c.2515C>T:p.Pro839Ser	coding	Benign
20	49373092	T	C	T49373092C	KCNB1	NM_004975.4(KCNB1):c.2468A>G:p.Lys823Arg	coding	Benign
20	49373237	G	C	G49373237C	KCNB1	NM_004975.4(KCNB1):c.2323C>G:p.Pro775Ala	coding	Benign
20	49373254	C	T	C49373254T	KCNB1	NM_004975.4(KCNB1):c.2306G>A:p.Ser769Asn	coding	Benign
20	49373262	C	A	C49373262A	KCNB1	NM_004975.4(KCNB1):c.2298G>T:p.Leu766=	coding	Benign
20	49373289	G	A	G49373289A	KCNB1	NM_004975.4(KCNB1):c.2271C>T:p.Asp757=	coding	Benign/Likely_benign
20	49373308	C	A	C49373308A	KCNB1	NM_004975.4(KCNB1):c.2252G>T:p.Gly751Val	coding	Benign
20	49373310	C	T	C49373310T	KCNB1	NM_004975.4(KCNB1):c.2250G>A:p.Ala750=	coding	Benign/Likely_benign
20	49373311	G	A	G49373311A	KCNB1	NM_004975.4(KCNB1):c.2249C>T:p.Ala750Val	coding	Benign/Likely_benign
20	49373312	C	T	C49373312T	KCNB1	NM_004975.4(KCNB1):c.2248G>A:p.Ala750Thr	coding	Benign
20	49373353	C	T	C49373353T	KCNB1	NM_004975.4(KCNB1):c.2207G>A:p.Arg736Gln	coding	Benign/Likely_benign
20	49373408	C	T	C49373408T	KCNB1	NM_004975.4(KCNB1):c.2152G>A:p.Val718Met	coding	Benign
20	49373424	C	T	C49373424T	KCNB1	NM_004975.4(KCNB1):c.2136G>A:p.Thr712=	coding	Benign/Likely_benign
20	49373425	G	A	G49373425A	KCNB1	NM_004975.4(KCNB1):c.2135C>T:p.Thr712Met	coding	Benign
20	49373461	C	T	C49373461T	KCNB1	NM_004975.4(KCNB1):c.2099G>A:p.Ser700Asn	coding	Benign
20	49373579	T	C	T49373579C	KCNB1	NM_004975.4(KCNB1):c.1981A>G:p.Met661Val	coding	Benign
20	49373680	C	A	C49373680A	KCNB1	NM_004975.4(KCNB1):c.1880G>T:p.Arg627Leu	coding	Benign
20	49373680	C	T	C49373680T	KCNB1	NM_004975.4(KCNB1):c.1880G>A:p.Arg627Gln	coding	Benign
20	49373826	C	G	C49373826G	KCNB1	NM_004975.4(KCNB1):c.1734G>C:p.Gly578=	coding	Benign/Likely_benign
20	49373837	G	C	G49373837C	KCNB1	NM_004975.4(KCNB1):c.1723C>G:p.Arg575Gly	coding	Benign
20	49373911	G	A	G49373911A	KCNB1	NM_004975.4(KCNB1):c.1649C>T:p.Ser550Leu	coding	Benign
20	49374010	G	T	G49374010T	KCNB1	NM_004975.4(KCNB1):c.1550C>A:p.Ser517Ter	coding	Pathogenic
20	49374172	A	G	A49374172G	KCNB1	NM_004975.4(KCNB1):c.1388T>C:p.Ile463Thr	coding	Benign/Likely_benign
20	49374204	A	G	A49374204G	KCNB1	NM_004975.4(KCNB1):c.1356T>C:p.Asp452=	coding	Benign
20	49374311	A	G	A49374311G	KCNB1	NM_004975.4(KCNB1):c.1249T>C:p.Ser417Pro	coding	Pathogenic
20	49374323	C	T	C49374323T	KCNB1	NM_004975.4(KCNB1):c.1237G>A:p.Val413Ile	coding	Pathogenic/Likely_pathogenic
20	49374331	G	A	G49374331A	KCNB1	NM_004975.4(KCNB1):c.1229C>T:p.Pro410Leu	coding	Pathogenic
20	49374338	G	A	G49374338A	KCNB1	NM_004975.4(KCNB1):c.1222C>T:p.Pro408Ser	coding	Pathogenic
20	49374391	C	T	C49374391T	KCNB1	NM_004975.4(KCNB1):c.1169G>A:p.Gly390Glu	coding	Pathogenic
20	49374424	C	A	C49374424A	KCNB1	NM_004975.4(KCNB1):c.1136G>T:p.Gly379Val	coding	Pathogenic
20	49374424	C	T	C49374424T	KCNB1	NM_004975.4(KCNB1):c.1136G>A:p.Gly379Glu	coding	Pathogenic
20	49374453	C	T	C49374453T	KCNB1	NM_004975.4(KCNB1):c.1107G>A:p.Trp369Ter	coding	Pathogenic
20	49374592	G	A	G49374592A	KCNB1	NM_004975.4(KCNB1):c.968C>T:p.Thr323Ile	coding	Pathogenic/Likely_pathogenic
20	49374601	A	G	A49374601G	KCNB1	NM_004975.4(KCNB1):c.959T>C:p.Leu320Pro	coding	Pathogenic
20	49374604	G	A	G49374604A	KCNB1	NM_004975.4(KCNB1):c.956C>T:p.Ser319Phe	coding	Pathogenic
20	49374623	G	A	G49374623A	KCNB1	NM_004975.4(KCNB1):c.937C>T:p.His313Tyr	coding	Pathogenic
20	49374644	G	A	G49374644A	KCNB1	NM_004975.4(KCNB1):c.916C>T:p.Arg306Cys	coding	Pathogenic
20	49374966	G	A	G49374966A	KCNB1	NM_004975.4(KCNB1):c.594C>T:p.Phe198=	coding	Benign
20	49481911	C	T	C49481911T	KCNB1	NM_004975.4(KCNB1):c.567+3G>A	noncoding	Benign/Likely_benign
20	49481935	G	A	G49481935A	KCNB1	NM_004975.4(KCNB1):c.546C>T:p.Pro182=	coding	Benign/Likely_benign
20	49482380	C	T	C49482380T	KCNB1	NM_004975.4(KCNB1):c.101G>A:p.Arg34His	coding	Benign
20	49482403	G	A	G49482403A	KCNB1	NM_004975.4(KCNB1):c.78C>T:p.Ser26=	coding	Benign
20	49482476	G	C	G49482476C	KCNB1	NM_004975.4(KCNB1):c.5C>G:p.Pro2Arg	coding	Benign
20	49524190	T	C	T49524190C	PTGIS	NM_000961.4(PTGIS):c.723A>G:p.Leu241=	coding	Benign
20	50891355	T	G	T50891355G	ADNP	NM_001282531.3(ADNP):c.*50A>C	noncoding	Benign
20	50891619	G	C	G50891619C	ADNP	NM_001282531.3(ADNP):c.3095C>G:p.Ser1032Cys	coding	Benign
20	50891656	G	C	G50891656C	ADNP	NM_001282531.3(ADNP):c.3058C>G:p.Gln1020Glu	coding	Benign
20	50891899	T	G	T50891899G	ADNP	NM_001282531.3(ADNP):c.2815A>C:p.Ile939Leu	coding	Benign/Likely_benign
20	50891905	C	T	C50891905T	ADNP	NM_001282531.3(ADNP):c.2809G>A:p.Glu937Lys	coding	Benign
20	50891932	C	G	C50891932G	ADNP	NM_001282531.3(ADNP):c.2782G>C:p.Asp928His	coding	Benign/Likely_benign
20	50892260	G	C	G50892260C	ADNP	NM_001282531.3(ADNP):c.2454C>G:p.Tyr818Ter	coding	Pathogenic
20	50892327	C	T	C50892327T	ADNP	NM_001282531.3(ADNP):c.2387G>A:p.Trp796Ter	coding	Pathogenic
20	50892397	T	C	T50892397C	ADNP	NM_001282531.3(ADNP):c.2317A>G:p.Lys773Glu	coding	Benign/Likely_benign
20	50892422	A	C	A50892422C	ADNP	NM_001282531.3(ADNP):c.2292T>G:p.Tyr764Ter	coding	Pathogenic
20	50892565	G	A	G50892565A	ADNP	NM_001282531.3(ADNP):c.2149C>T:p.Arg717Cys	coding	Benign
20	50892962	T	C	T50892962C	ADNP	NM_001282531.3(ADNP):c.1752A>G:p.Gln584=	coding	Benign/Likely_benign
20	50893502	C	G	C50893502G	ADNP	NM_001282531.3(ADNP):c.1212G>C:p.Ser404=	coding	Benign/Likely_benign
20	50893551	G	A	G50893551A	ADNP	NM_001282531.3(ADNP):c.1163C>T:p.Ala388Val	coding	Benign/Likely_benign
20	50893592	G	A	G50893592A	ADNP	NM_001282531.3(ADNP):c.1122C>T:p.Asn374=	coding	Benign
20	50893805	C	T	C50893805T	ADNP	NM_001282531.3(ADNP):c.909G>A:p.Met303Ile	coding	Benign
20	50893913	G	C	G50893913C	ADNP	NM_001282531.3(ADNP):c.801C>G:p.Pro267=	coding	Benign
20	50894179	T	C	T50894179C	ADNP	NM_001282531.3(ADNP):c.535A>G:p.Ile179Val	coding	Benign/Likely_benign
20	50902027	G	A	G50902027A	ADNP	NM_001282531.3(ADNP):c.191C>T:p.Thr64Met	coding	Benign/Likely_benign
20	50903609	T	G	T50903609G	ADNP	NM_001282531.3(ADNP):c.108+280A>C	noncoding	Benign
20	50903656	C	T	C50903656T	ADNP	NM_001282531.3(ADNP):c.108+233G>A	noncoding	Benign
20	50903765	G	A	G50903765A	ADNP	NM_001282531.3(ADNP):c.108+124C>T	noncoding	Benign
20	50935823	G	A	G50935823A	DPM1	NM_003859.3(DPM1):c.678+325C>T	noncoding	Benign
20	50936255	G	A	G50936255A	DPM1	NM_003859.3(DPM1):c.571C>T:p.Arg191Ter	coding	Pathogenic
20	50936367	A	G	A50936367G	DPM1	NM_003859.3(DPM1):c.564-105T>C	noncoding	Benign
20	50945724	A	G	A50945724G	DPM1	NM_003859.3(DPM1):c.398+13T>C	noncoding	Benign/Likely_benign
20	50945935	A	G	A50945935G	DPM1	NM_003859.3(DPM1):c.296-12T>C	noncoding	Benign/Likely_benign
20	50946172	A	T	A50946172T	DPM1	NM_003859.3(DPM1):c.296-249T>A	noncoding	Benign
20	50958342	G	C	G50958342C	DPM1	NM_003859.3(DPM1):c.161+21C>G	noncoding	Benign
20	50958523	T	C	T50958523C	DPM1	NM_003859.3(DPM1):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
20	50959118	G	A	G50959118A	MOCS3	NM_014484.5(MOCS3):c.276G>A:p.Gly92=	coding	Benign
20	50959811	A	G	A50959811G	MOCS3	NM_014484.5(MOCS3):c.969A>G:p.Lys323=	coding	Benign
20	50959816	G	C	G50959816C	MOCS3	NM_014484.5(MOCS3):c.974G>C:p.Arg325Pro	coding	Benign
20	50959859	C	G	C50959859G	MOCS3	NM_014484.5(MOCS3):c.1017C>G:p.Thr339=	coding	Benign
20	50959970	A	C	A50959970C	MOCS3	NM_014484.5(MOCS3):c.1128A>C:p.Lys376Asn	coding	Benign
20	50959991	G	A	G50959991A	MOCS3	NM_014484.5(MOCS3):c.1149G>A:p.Ala383=	coding	Benign
20	50960045	A	G	A50960045G	MOCS3	NM_014484.5(MOCS3):c.1203A>G:p.Gln401=	coding	Benign
20	50960127	T	G	T50960127G	MOCS3	NM_014484.5(MOCS3):c.1285T>G:p.Ser429Ala	coding	Benign
20	51676140	G	A	G51676140A	ATP9A	NM_006045.3(ATP9A):c.868C>T:p.Arg290Ter	coding	Pathogenic
20	51689063	C	A	C51689063A	ATP9A	NM_006045.3(ATP9A):c.799+1G>T	noncoding	Pathogenic
20	51725818	C	A	C51725818A	ATP9A	NM_006045.3(ATP9A):c.327+1G>T	noncoding	Pathogenic
20	51784140	A	T	A51784140T	SALL4	NM_020436.5(SALL4):c.*125T>A	noncoding	Benign
20	51789433	A	G	A51789433G	SALL4	NM_020436.5(SALL4):c.2462-292T>C	noncoding	Benign
20	51790766	G	A	G51790766A	SALL4	NM_020436.5(SALL4):c.1717C>T:p.Arg573Ter	coding	Pathogenic
20	51790826	G	A	G51790826A	SALL4	NM_020436.5(SALL4):c.1657C>T:p.Gln553Ter	coding	Pathogenic
20	51791721	G	A	G51791721A	SALL4	NM_020436.5(SALL4):c.762C>T:p.Ala254=	coding	Benign
20	51791771	G	A	G51791771A	SALL4	NM_020436.5(SALL4):c.712C>T:p.Gln238Ter	coding	Pathogenic
20	54156971	T	C	T54156971C	CYP24A1	NM_000782.5(CYP24A1):c.*10+198A>G	noncoding	Benign
20	54157095	T	C	T54157095C	CYP24A1	NM_000782.5(CYP24A1):c.*10+74A>G	noncoding	Benign
20	54157303	G	A	G54157303A	CYP24A1	NM_000782.5(CYP24A1):c.1435-14C>T	noncoding	Benign
20	54157305	A	G	A54157305G	CYP24A1	NM_000782.5(CYP24A1):c.1435-16T>C	noncoding	Benign
20	54157426	G	A	G54157426A	CYP24A1	NM_000782.5(CYP24A1):c.1396C>T:p.Arg466Ter	coding	Pathogenic
20	54157888	A	G	A54157888G	CYP24A1	NM_000782.5(CYP24A1):c.1236+198T>C	noncoding	Benign
20	54157940	C	T	C54157940T	CYP24A1	NM_000782.5(CYP24A1):c.1236+146G>A	noncoding	Benign
20	54158040	A	G	A54158040G	CYP24A1	NM_000782.5(CYP24A1):c.1236+46T>C	noncoding	Benign
20	54158062	A	G	A54158062G	CYP24A1	NM_000782.5(CYP24A1):c.1236+24T>C	noncoding	Benign
20	54158344	C	T	C54158344T	CYP24A1	NM_000782.5(CYP24A1):c.1158-180G>A	noncoding	Benign
20	54158364	G	A	G54158364A	CYP24A1	NM_000782.5(CYP24A1):c.1158-200C>T	noncoding	Benign
20	54158753	G	A	G54158753A	CYP24A1	NM_000782.5(CYP24A1):c.1157+204C>T	noncoding	Benign
20	54158779	C	T	C54158779T	CYP24A1	NM_000782.5(CYP24A1):c.1157+178G>A	noncoding	Benign
20	54158967	C	G	C54158967G	CYP24A1	NM_000782.5(CYP24A1):c.1147G>C:p.Glu383Gln	coding	Pathogenic
20	54159083	C	T	C54159083T	CYP24A1	NM_000782.5(CYP24A1):c.1031G>A:p.Arg344His	coding	Benign
20	54159189	A	G	A54159189G	CYP24A1	NM_000782.5(CYP24A1):c.991-66T>C	noncoding	Benign
20	54159235	G	A	G54159235A	CYP24A1	NM_000782.5(CYP24A1):c.991-112C>T	noncoding	Benign
20	54162422	T	C	T54162422C	CYP24A1	NM_000782.5(CYP24A1):c.990+295A>G	noncoding	Benign
20	54162543	C	T	C54162543T	CYP24A1	NM_000782.5(CYP24A1):c.990+174G>A	noncoding	Benign
20	54162671	G	T	G54162671T	CYP24A1	NM_000782.5(CYP24A1):c.990+46C>A	noncoding	Benign
20	54162673	T	C	T54162673C	CYP24A1	NM_000782.5(CYP24A1):c.990+44A>G	noncoding	Benign
20	54164373	A	G	A54164373G	CYP24A1	NM_000782.5(CYP24A1):c.844+79T>C	noncoding	Benign
20	54164583	C	A	C54164583A	CYP24A1	NM_000782.5(CYP24A1):c.733-20G>T	noncoding	Benign
20	54164712	G	C	G54164712C	CYP24A1	NM_000782.5(CYP24A1):c.733-149C>G	noncoding	Benign
20	54164725	T	C	T54164725C	CYP24A1	NM_000782.5(CYP24A1):c.733-162A>G	noncoding	Benign
20	54165511	C	T	C54165511T	CYP24A1	NM_000782.5(CYP24A1):c.732+231G>A	noncoding	Benign
20	54165512	A	G	A54165512G	CYP24A1	NM_000782.5(CYP24A1):c.732+230T>C	noncoding	Benign
20	54165840	T	C	T54165840C	CYP24A1	NM_000782.5(CYP24A1):c.641-7A>G	noncoding	Benign
20	54165899	T	G	T54165899G	CYP24A1	NM_000782.5(CYP24A1):c.641-66A>C	noncoding	Benign
20	54169320	A	G	A54169320G	CYP24A1	NM_000782.5(CYP24A1):c.640+272T>C	noncoding	Benign
20	54169534	T	C	T54169534C	CYP24A1	NM_000782.5(CYP24A1):c.640+58A>G	noncoding	Benign
20	54169867	T	C	T54169867C	CYP24A1	NM_000782.5(CYP24A1):c.544-179A>G	noncoding	Benign
20	54171474	A	G	A54171474G	CYP24A1	NM_000782.5(CYP24A1):c.543+103T>C	noncoding	Benign
20	54171775	T	C	T54171775C	CYP24A1	NM_000782.5(CYP24A1):c.450-105A>G	noncoding	Benign
20	54172878	C	T	C54172878T	CYP24A1	NM_000782.5(CYP24A1):c.449+31G>A	noncoding	Benign
20	54172958	A	C	A54172958C	CYP24A1	NM_000782.5(CYP24A1):c.400T>G:p.Trp134Gly	coding	Pathogenic
20	54173204	C	G	C54173204G	CYP24A1	NM_000782.5(CYP24A1):c.259-105G>C	noncoding	Benign
20	54173979	C	T	C54173979T	CYP24A1	NM_000782.5(CYP24A1):c.-400G>A	noncoding	Benign/Likely_benign
20	54174247	T	G	T54174247G	CYP24A1	Single_allele	noncoding	Benign
20	56248973	G	A	G56248973A	MC3R	NM_019888.3(MC3R):c.130G>A:p.Val44Ile	coding	Benign
20	56249501	C	A	C56249501A	MC3R	NM_019888.3(MC3R):c.658C>A:p.Arg220Ser	coding	Benign
20	56386485	A	T	A56386485T	AURKA	NM_198437.3(AURKA):c.91T>A:p.Phe31Ile	coding	Benign
20	57171260	T	C	T57171260C	BMP7	NM_001719.3(BMP7):c.1147-152A>G	noncoding	Benign
20	57173008	C	T	C57173008T	BMP7	NM_001719.3(BMP7):c.1146+192G>A	noncoding	Benign
20	57173150	G	A	G57173150A	BMP7	NM_001719.3(BMP7):c.1146+50C>T	noncoding	Benign
20	57175148	G	T	G57175148T	BMP7	NM_001719.3(BMP7):c.959-141C>A	noncoding	Benign
20	57183506	C	T	C57183506T	BMP7	NM_001719.3(BMP7):c.958+216G>A	noncoding	Benign
20	57183536	A	G	A57183536G	BMP7	NM_001719.3(BMP7):c.958+186T>C	noncoding	Benign
20	57183599	A	G	A57183599G	BMP7	NM_001719.3(BMP7):c.958+123T>C	noncoding	Benign
20	57183735	C	T	C57183735T	BMP7	NM_001719.3(BMP7):c.945G>A:p.Met315Ile	coding	Benign
20	57183833	C	T	C57183833T	BMP7	NM_001719.3(BMP7):c.847G>A:p.Ala283Thr	coding	Benign
20	57183992	T	A	T57183992A	BMP7	NM_001719.3(BMP7):c.761-73A>T	noncoding	Benign
20	57183992	T	C	T57183992C	BMP7	NM_001719.3(BMP7):c.761-73A>G	noncoding	Benign
20	57184101	T	C	T57184101C	BMP7	NM_001719.3(BMP7):c.761-182A>G	noncoding	Benign
20	57202295	T	C	T57202295C	BMP7	NM_001719.3(BMP7):c.760+180A>G	noncoding	Benign
20	57222001	G	T	G57222001T	BMP7	NM_001719.3(BMP7):c.611+6228C>A	noncoding	Benign
20	57228053	C	T	C57228053T	BMP7	NM_001719.3(BMP7):c.611+176G>A	noncoding	Benign
20	57228243	C	T	C57228243T	BMP7	NM_001719.3(BMP7):c.597G>A:p.Gln199=	coding	Benign
20	57228317	G	A	G57228317A	BMP7	NM_001719.3(BMP7):c.523C>T:p.Arg175Trp	coding	Pathogenic
20	57265422	C	A	C57265422A	BMP7	NM_001719.3(BMP7):c.418+283G>T	noncoding	Benign
20	57265478	C	T	C57265478T	BMP7	NM_001719.3(BMP7):c.418+227G>A	noncoding	Benign
20	57265844	C	T	C57265844T	BMP7	NM_001719.3(BMP7):c.279G>A:p.Glu93=	coding	Benign
20	57265869	T	A	T57265869A	BMP7	NM_001719.3(BMP7):c.254A>T:p.Asp85Val	coding	Pathogenic
20	57266485	G	A	G57266485A	BMP7	NM_001719.3(BMP7):c.-363C>T	noncoding	Benign
20	57266901	C	A	C57266901A	BMP7	NR_171651.1(LOC112268270):n.322C>A	noncoding	Benign
20	57561898	G	C	G57561898C	PCK1	NM_002591.4(PCK1):c.225-173G>C	noncoding	Benign
20	57561937	T	C	T57561937C	PCK1	NM_002591.4(PCK1):c.225-134T>C	noncoding	Benign
20	57561954	C	G	C57561954G	PCK1	NM_002591.4(PCK1):c.225-117C>G	noncoding	Benign
20	57562005	C	T	C57562005T	PCK1	NM_002591.4(PCK1):c.225-66C>T	noncoding	Benign
20	57562631	A	C	A57562631C	PCK1	NM_002591.4(PCK1):c.407-65A>C	noncoding	Benign
20	57562984	G	C	G57562984C	PCK1	NM_002591.4(PCK1):c.611-44G>C	noncoding	Benign
20	57563012	G	A	G57563012A	PCK1	NM_002591.4(PCK1):c.611-16G>A	noncoding	Benign
20	57564815	C	T	C57564815T	PCK1	NM_002591.4(PCK1):c.1318+202C>T	noncoding	Benign
20	57564911	C	T	C57564911T	PCK1	NM_002591.4(PCK1):c.1319-129C>T	noncoding	Benign
20	58389041	A	G	A58389041G	VAPB	Single_allele	noncoding	Benign
20	58389802	C	T	C58389802T	VAPB	NM_004738.5(VAPB):c.58+285C>T	noncoding	Benign
20	58418601	C	T	C58418601T	VAPB	NM_004738.5(VAPB):c.211+238C>T	noncoding	Benign
20	58434374	G	A	G58434374A	VAPB	NM_004738.5(VAPB):c.212-228G>A	noncoding	Benign
20	58434843	A	G	A58434843G	VAPB	NM_004738.5(VAPB):c.315+138A>G	noncoding	Benign
20	58435024	C	G	C58435024G	VAPB	NM_004738.5(VAPB):c.315+319C>G	noncoding	Benign
20	58438817	G	A	G58438817A	VAPB	NM_004738.5(VAPB):c.316-128G>A	noncoding	Benign
20	58438928	A	C	A58438928C	VAPB	NM_004738.5(VAPB):c.316-17A>C	noncoding	Benign
20	58440722	G	A	G58440722A	VAPB	NM_004738.5(VAPB):c.397-185G>A	noncoding	Benign
20	58444184	G	A	G58444184A	VAPB	NM_004738.5(VAPB):c.681G>A:p.Leu227=	coding	Benign
20	58651023	C	G	C58651023G	STX16	Single_allele	noncoding	Benign
20	58651187	G	C	G58651187C	STX16	Single_allele	noncoding	Benign
20	58659426	A	G	A58659426G	STX16	NM_001001433.3(STX16):c.133-197A>G	noncoding	Benign
20	58668283	C	T	C58668283T	STX16	NM_001001433.3(STX16):c.393+156C>T	noncoding	Benign
20	58668352	C	T	C58668352T	STX16	NM_001001433.3(STX16):c.393+225C>T	noncoding	Benign
20	58669145	A	G	A58669145G	STX16	NM_001001433.3(STX16):c.394-146A>G	noncoding	Benign
20	58671428	G	A	G58671428A	STX16	NM_001001433.3(STX16):c.792+131G>A	noncoding	Benign
20	58671438	G	A	G58671438A	STX16	NM_001001433.3(STX16):c.792+141G>A	noncoding	Benign
20	58675930	G	C	G58675930C	STX16	NM_001001433.3(STX16):c.874-257G>C	noncoding	Benign
20	58839812	C	G	C58839812G	GNAS	NM_016592.5(GNAS):c.-295C>G	noncoding	Benign
20	58840055	A	G	A58840055G	GNAS	NM_016592.5(GNAS):c.-52A>G	noncoding	Benign
20	58840400	C	T	C58840400T	GNAS	NM_016592.5(GNAS):c.294C>T:p.Pro98_Glu99=	coding	Benign/Likely_benign
20	58840547	G	A	G58840547A	GNAS	NM_016592.5(GNAS):c.441G>A:p.Pro147_Val148=	coding	Benign/Likely_benign
20	58840643	G	A	G58840643A	GNAS	NM_016592.5(GNAS):c.537G>A:p.Pro179_Pro180=	coding	Benign/Likely_benign
20	58840757	T	A	T58840757A	GNAS	NM_016592.5(GNAS):c.651T>A:p.Arg217_Arg218=	coding	Benign
20	58840907	C	T	C58840907T	GNAS	NM_016592.5(GNAS):c.*42+21C>T	noncoding	Benign
20	58840940	A	G	A58840940G	GNAS	NM_016592.5(GNAS):c.*42+54A>G	noncoding	Benign
20	58853160	T	G	T58853160G	GNAS	NM_016592.5(GNAS):c.*42+12274T>G	noncoding	Benign
20	58853790	T	C	T58853790C	GNAS	NM_016592.5(GNAS):c.*42+12904T>C	coding	Benign/Likely_benign
20	58853892	G	A	G58853892A	GNAS	NM_016592.5(GNAS):c.*42+13006G>A	coding	Benign/Likely_benign
20	58854392	C	T	C58854392T	GNAS	NM_016592.5(GNAS):c.*42+13506C>T	coding	Benign/Likely_benign
20	58854486	C	G	C58854486G	GNAS	NM_016592.5(GNAS):c.*42+13600C>G	coding	Benign
20	58854789	C	T	C58854789T	GNAS	NM_016592.5(GNAS):c.*42+13903C>T	coding	Benign/Likely_benign
20	58855422	C	G	C58855422G	GNAS	NM_016592.5(GNAS):c.*42+14536C>G	noncoding	Benign
20	58855502	A	T	A58855502T	GNAS	NM_016592.5(GNAS):c.*42+14616A>T	noncoding	Benign
20	58855513	A	T	A58855513T	GNAS	NM_016592.5(GNAS):c.*42+14627A>T	noncoding	Benign
20	58891291	C	T	C58891291T	GNAS	NM_016592.5(GNAS):c.*43-4321C>T	noncoding	Benign
20	58891729	G	T	G58891729T	GNAS	NM_000516.7(GNAS):c.3G>T:p.Met1Ile	coding	Pathogenic
20	58891781	C	T	C58891781T	GNAS	NM_000516.7(GNAS):c.55C>T:p.Gln19Ter	coding	Pathogenic
20	58891817	C	T	C58891817T	GNAS	NM_000516.7(GNAS):c.91C>T:p.Gln31Ter	coding	Pathogenic
20	58891850	C	A	C58891850A	GNAS	NM_000516.7(GNAS):c.124C>A:p.Arg42Ser	coding	Pathogenic
20	58891853	C	G	C58891853G	GNAS	NM_000516.7(GNAS):c.127C>G:p.Leu43Val	coding	Pathogenic
20	58891867	T	C	T58891867C	GNAS	NM_000516.7(GNAS):c.139+2T>C	noncoding	Pathogenic
20	58895462	G	A	G58895462A	GNAS	NM_000516.7(GNAS):c.140-150G>A	noncoding	Benign
20	58895629	A	G	A58895629G	GNAS	NM_000516.7(GNAS):c.157A>G:p.Lys53Glu	coding	Pathogenic
20	58899144	A	G	A58899144G	GNAS	NM_000516.7(GNAS):c.257+159A>G	noncoding	Benign
20	58903393	A	T	A58903393T	GNAS	NM_000516.7(GNAS):c.258-138A>T	noncoding	Benign
20	58903590	G	A	G58903590A	GNAS	NM_000516.7(GNAS):c.312+5G>A	noncoding	Pathogenic
20	58903702	C	T	C58903702T	GNAS	NM_000516.7(GNAS):c.343C>T:p.Pro115Ser	coding	Pathogenic
20	58903748	A	G	A58903748G	GNAS	NM_000516.7(GNAS):c.389A>G:p.Tyr130Cys	coding	Pathogenic
20	58903793	T	G	T58903793G	GNAS	NM_000516.7(GNAS):c.432+2T>G	noncoding	Pathogenic
20	58903806	G	A	G58903806A	GNAS	NM_000516.7(GNAS):c.432+15G>A	noncoding	Benign
20	58903884	G	A	G58903884A	GNAS	NM_000516.7(GNAS):c.432+93G>A	noncoding	Benign
20	58904078	A	G	A58904078G	GNAS	NM_000516.7(GNAS):c.432+287A>G	noncoding	Benign
20	58905312	G	T	G58905312T	GNAS	NM_000516.7(GNAS):c.433-71G>T	noncoding	Benign
20	58905411	G	A	G58905411A	GNAS	NM_000516.7(GNAS):c.461G>A:p.Trp154Ter	coding	Pathogenic
20	58905439	C	G	C58905439G	GNAS	NM_000516.7(GNAS):c.489C>G:p.Tyr163Ter	coding	Pathogenic
20	58905457	C	A	C58905457A	GNAS	NM_000516.7(GNAS):c.507C>A:p.Tyr169Ter	coding	Pathogenic
20	58908893	G	A	G58908893A	GNAS	NM_000516.7(GNAS):c.531-269G>A	noncoding	Benign
20	58909030	T	C	T58909030C	GNAS	NM_000516.7(GNAS):c.531-132T>C	noncoding	Benign
20	58909186	C	T	C58909186T	GNAS	NM_000516.7(GNAS):c.555C>T:p.Ile185=	coding	Benign
20	58909207	G	T	G58909207T	GNAS	NM_000516.7(GNAS):c.576G>T:p.Pro192=	coding	Benign/Likely_benign
20	58909271	C	G	C58909271G	GNAS	NM_000516.7(GNAS):c.585+55C>G	noncoding	Benign
20	58909338	A	G	A58909338G	GNAS	NM_000516.7(GNAS):c.586-12A>G	noncoding	Benign
20	58909359	C	T	C58909359T	GNAS	NM_000516.7(GNAS):c.595C>T:p.Arg199Cys	coding	Pathogenic
20	58909360	G	C	G58909360C	GNAS	NM_000516.7(GNAS):c.596G>C:p.Arg199Pro	coding	Pathogenic
20	58909543	C	T	C58909543T	GNAS	NM_000516.7(GNAS):c.682C>T:p.Arg228Cys	coding	Pathogenic
20	58909563	G	C	G58909563C	GNAS	NM_000516.7(GNAS):c.702G>C:p.Trp234Cys	coding	Pathogenic
20	58909738	G	T	G58909738T	GNAS	NM_000516.7(GNAS):c.773G>T:p.Arg258Leu	coding	Pathogenic
20	58909879	C	T	C58909879T	GNAS	NM_000516.7(GNAS):c.840-72C>T	noncoding	Benign
20	58910028	C	T	C58910028T	GNAS	NM_000516.7(GNAS):c.917C>T:p.Ser306Leu	coding	Pathogenic
20	58910387	C	T	C58910387T	GNAS	NM_000516.7(GNAS):c.1024C>T:p.Arg342Ter	coding	Pathogenic
20	58910388	G	A	G58910388A	GNAS	NM_000516.7(GNAS):c.1025G>A:p.Arg342Gln	coding	Pathogenic
20	58910556	T	C	T58910556C	GNAS	NM_000516.7(GNAS):c.1039-127T>C	noncoding	Benign
20	58910684	G	C	G58910684C	GNAS	NM_000516.7(GNAS):c.1040G>C:p.Arg347Thr	coding	Pathogenic
20	58910701	G	A	G58910701A	GNAS	NM_000516.7(GNAS):c.1057G>A:p.Gly353Arg	coding	Pathogenic
20	58910711	G	A	G58910711A	GNAS	NM_000516.7(GNAS):c.1067G>A:p.Arg356His	coding	Pathogenic
20	58910757	C	T	C58910757T	GNAS	NM_000516.7(GNAS):c.1113C>T:p.Asn371=	coding	Benign
20	58910759	T	C	T58910759C	GNAS	NM_000516.7(GNAS):c.1115T>C:p.Ile372Thr	coding	Pathogenic
20	58910794	C	G	C58910794G	GNAS	NM_000516.7(GNAS):c.1150C>G:p.Gln384Glu	coding	Pathogenic
20	58910965	G	A	G58910965A	GNAS	NM_000516.7(GNAS):c.*136G>A	noncoding	Benign
20	59022590	A	G	A59022590G	TUBB1	NM_030773.4(TUBB1):c.58-255A>G	noncoding	Benign
20	59022915	A	C	A59022915C	TUBB1	NM_030773.4(TUBB1):c.128A>C:p.Gln43Pro	coding	Benign
20	59023961	T	G	T59023961G	TUBB1	NM_030773.4(TUBB1):c.534T>G:p.Thr178=	coding	Benign
20	59024051	T	A	T59024051A	TUBB1	NM_030773.4(TUBB1):c.624T>A:p.Tyr208Ter	coding	Pathogenic
20	59024233	G	A	G59024233A	TUBB1	NM_030773.4(TUBB1):c.806G>A:p.Gly269Asp	coding	Pathogenic
20	59024254	A	G	A59024254G	TUBB1	NM_030773.4(TUBB1):c.827A>G:p.Gln276Arg	coding	Benign
20	59024347	G	A	G59024347A	TUBB1	NM_030773.4(TUBB1):c.920G>A:p.Arg307His	coding	Benign
20	59024694	C	T	C59024694T	TUBB1	NM_030773.4(TUBB1):c.1267C>T:p.Gln423Ter	coding	Pathogenic
20	59032308	C	T	C59032308T	ATP5F1E	NM_006886.4(ATP5F1E):c.-57G>A	noncoding	Benign
20	59032394	C	A	C59032394A	ATP5F1E	Single_allele	noncoding	Benign
20	59032590	G	C	G59032590C	ATP5F1E	Single_allele	noncoding	Benign
20	59032613	C	T	C59032613T	ATP5F1E	Single_allele	noncoding	Benign
20	59300108	C	T	C59300108T	EDN3	Single_allele	noncoding	Benign
20	59300989	C	T	C59300989T	EDN3	NM_207034.3(EDN3):c.52+125C>T	noncoding	Benign
20	59301100	G	A	G59301100A	EDN3	NM_207034.3(EDN3):c.52+236G>A	noncoding	Benign
20	59301185	G	T	G59301185T	EDN3	NM_207034.3(EDN3):c.53-225G>T	noncoding	Benign
20	59324068	G	A	G59324068A	EDN3	NM_207034.3(EDN3):c.589-263G>A	noncoding	Benign
20	62064842	C	A	C62064842A	TAF4	NM_003185.4(TAF4):c.969G>T:p.Ala323=	coding	Benign
20	62065405	A	C	A62065405C	TAF4	NM_003185.4(TAF4):c.406T>G:p.Ser136Ala	coding	Benign
20	62143722	T	G	T62143722G	SS18L1	Single_allele	noncoding	Benign
20	62158810	C	A	C62158810A	SS18L1	NM_198935.3(SS18L1):c.146+62C>A	coding	Benign
20	62159694	C	G	C62159694G	SS18L1	NM_198935.3(SS18L1):c.147-183C>G	noncoding	Benign
20	62159697	A	G	A62159697G	SS18L1	NM_198935.3(SS18L1):c.147-180A>G	noncoding	Benign
20	62159842	G	A	G62159842A	SS18L1	NM_198935.3(SS18L1):c.147-35G>A	noncoding	Benign
20	62160042	T	C	T62160042C	SS18L1	NM_198935.3(SS18L1):c.231+81T>C	noncoding	Benign
20	62161244	C	A	C62161244A	SS18L1	NM_198935.3(SS18L1):c.232-192C>A	noncoding	Benign
20	62161393	G	A	G62161393A	SS18L1	NM_198935.3(SS18L1):c.232-43G>A	noncoding	Benign
20	62161411	C	T	C62161411T	SS18L1	NM_198935.3(SS18L1):c.232-25C>T	noncoding	Benign
20	62161755	C	A	C62161755A	SS18L1	NM_198935.3(SS18L1):c.376+175C>A	noncoding	Benign
20	62162589	C	T	C62162589T	SS18L1	NM_198935.3(SS18L1):c.377-163C>T	noncoding	Benign
20	62162852	G	A	G62162852A	SS18L1	NM_198935.3(SS18L1):c.477G>A:p.Ser159=	coding	Benign
20	62163014	C	T	C62163014T	SS18L1	NM_198935.3(SS18L1):c.556+83C>T	noncoding	Benign
20	62163022	C	T	C62163022T	SS18L1	NM_198935.3(SS18L1):c.556+91C>T	noncoding	Benign
20	62163087	G	A	G62163087A	SS18L1	NM_198935.3(SS18L1):c.556+156G>A	noncoding	Benign
20	62163283	C	A	C62163283A	SS18L1	NM_198935.3(SS18L1):c.557-175C>A	noncoding	Benign
20	62163288	C	T	C62163288T	SS18L1	NM_198935.3(SS18L1):c.557-170C>T	noncoding	Benign
20	62163293	G	T	G62163293T	SS18L1	NM_198935.3(SS18L1):c.557-165G>T	noncoding	Benign
20	62163297	A	G	A62163297G	SS18L1	NM_198935.3(SS18L1):c.557-161A>G	noncoding	Benign
20	62163510	C	T	C62163510T	SS18L1	NM_198935.3(SS18L1):c.609C>T:p.Gly203=	coding	Benign
20	62163564	C	T	C62163564T	SS18L1	NM_198935.3(SS18L1):c.663C>T:p.Ser221=	coding	Benign
20	62163917	C	T	C62163917T	SS18L1	NM_198935.3(SS18L1):c.722-228C>T	noncoding	Benign
20	62164023	G	A	G62164023A	SS18L1	NM_198935.3(SS18L1):c.722-122G>A	noncoding	Benign
20	62164036	C	T	C62164036T	SS18L1	NM_198935.3(SS18L1):c.722-109C>T	noncoding	Benign
20	62164122	C	G	C62164122G	SS18L1	NM_198935.3(SS18L1):c.722-23C>G	noncoding	Benign
20	62164386	T	C	T62164386C	SS18L1	NM_198935.3(SS18L1):c.823+140T>C	noncoding	Benign
20	62165306	G	A	G62165306A	SS18L1	NM_198935.3(SS18L1):c.824-116G>A	noncoding	Benign
20	62165391	C	T	C62165391T	SS18L1	NM_198935.3(SS18L1):c.824-31C>T	noncoding	Benign
20	62165529	T	C	T62165529C	SS18L1	NM_198935.3(SS18L1):c.916+15T>C	noncoding	Benign
20	62165575	C	T	C62165575T	SS18L1	NM_198935.3(SS18L1):c.916+61C>T	noncoding	Benign
20	62172381	C	T	C62172381T	SS18L1	NM_198935.3(SS18L1):c.917-301C>T	noncoding	Benign
20	62172441	G	A	G62172441A	SS18L1	NM_198935.3(SS18L1):c.917-241G>A	noncoding	Benign
20	62172517	G	C	G62172517C	SS18L1	NM_198935.3(SS18L1):c.917-165G>C	noncoding	Benign
20	62172899	T	C	T62172899C	SS18L1	NM_198935.3(SS18L1):c.1036+98T>C	noncoding	Benign
20	62174444	A	T	A62174444T	SS18L1	NM_198935.3(SS18L1):c.1037-73A>T	noncoding	Benign
20	62178957	G	A	G62178957A	SS18L1	NM_198935.3(SS18L1):c.1165-225G>A	noncoding	Benign
20	62238609	C	T	C62238609T	OSBPL2	NM_144498.4(OSBPL2):c.-129+12C>T	noncoding	Benign
20	62256244	G	A	G62256244A	OSBPL2	NM_144498.4(OSBPL2):c.37+23G>A	noncoding	Benign
20	62256373	C	A	C62256373A	OSBPL2	NM_144498.4(OSBPL2):c.37+152C>A	noncoding	Benign
20	62260330	G	C	G62260330C	OSBPL2	NM_144498.4(OSBPL2):c.182+205G>C	noncoding	Benign
20	62260436	T	A	T62260436A	OSBPL2	NM_144498.4(OSBPL2):c.182+311T>A	noncoding	Benign
20	62263658	C	T	C62263658T	OSBPL2	NM_144498.4(OSBPL2):c.225C>T:p.Ser75=	coding	Benign/Likely_benign
20	62271804	G	T	G62271804T	OSBPL2	NM_144498.4(OSBPL2):c.259-321G>T	noncoding	Benign
20	62272077	G	A	G62272077A	OSBPL2	NM_144498.4(OSBPL2):c.259-48G>A	noncoding	Benign
20	62273192	G	T	G62273192T	OSBPL2	NM_144498.4(OSBPL2):c.394-117G>T	noncoding	Benign
20	62273289	C	A	C62273289A	OSBPL2	NM_144498.4(OSBPL2):c.394-20C>A	noncoding	Benign/Likely_benign
20	62273292	C	T	C62273292T	OSBPL2	NM_144498.4(OSBPL2):c.394-17C>T	noncoding	Benign
20	62278970	T	A	T62278970A	OSBPL2	NM_144498.4(OSBPL2):c.492-187T>A	noncoding	Benign
20	62278998	A	G	A62278998G	OSBPL2	NM_144498.4(OSBPL2):c.492-159A>G	noncoding	Benign
20	62279208	C	G	C62279208G	OSBPL2	NM_144498.4(OSBPL2):c.543C>G:p.Pro181=	coding	Benign/Likely_benign
20	62279348	C	T	C62279348T	OSBPL2	NM_144498.4(OSBPL2):c.674+9C>T	noncoding	Benign/Likely_benign
20	62279354	G	A	G62279354A	OSBPL2	NM_144498.4(OSBPL2):c.674+15G>A	noncoding	Benign/Likely_benign
20	62279607	A	G	A62279607G	OSBPL2	NM_144498.4(OSBPL2):c.674+268A>G	noncoding	Benign
20	62280914	C	T	C62280914T	OSBPL2	NM_144498.4(OSBPL2):c.675-144C>T	noncoding	Benign
20	62280959	G	A	G62280959A	OSBPL2	NM_144498.4(OSBPL2):c.675-99G>A	noncoding	Benign
20	62281022	T	G	T62281022G	OSBPL2	NM_144498.4(OSBPL2):c.675-36T>G	noncoding	Benign
20	62281196	C	T	C62281196T	OSBPL2	NM_144498.4(OSBPL2):c.782+31C>T	noncoding	Benign
20	62281920	T	C	T62281920C	OSBPL2	NM_144498.4(OSBPL2):c.872+41T>C	noncoding	Benign
20	62281978	G	A	G62281978A	OSBPL2	NM_144498.4(OSBPL2):c.872+99G>A	noncoding	Benign
20	62283720	A	G	A62283720G	OSBPL2	NM_144498.4(OSBPL2):c.873-326A>G	noncoding	Benign
20	62283775	C	G	C62283775G	OSBPL2	NM_144498.4(OSBPL2):c.873-271C>G	noncoding	Benign
20	62284325	A	G	A62284325G	OSBPL2	NM_144498.4(OSBPL2):c.996+156A>G	noncoding	Benign
20	62286550	C	T	C62286550T	OSBPL2	NM_144498.4(OSBPL2):c.997-33C>T	noncoding	Benign
20	62286551	G	A	G62286551A	OSBPL2	NM_144498.4(OSBPL2):c.997-32G>A	noncoding	Benign
20	62286731	C	T	C62286731T	OSBPL2	NM_144498.4(OSBPL2):c.1125+20C>T	noncoding	Benign/Likely_benign
20	62289012	C	T	C62289012T	OSBPL2	NM_144498.4(OSBPL2):c.1126-195C>T	noncoding	Benign
20	62289269	C	T	C62289269T	OSBPL2	NM_144498.4(OSBPL2):c.1188C>T:p.Thr396=	coding	Benign
20	62289341	G	A	G62289341A	OSBPL2	NM_144498.4(OSBPL2):c.1249+11G>A	noncoding	Benign/Likely_benign
20	62291486	T	C	T62291486C	OSBPL2	NM_144498.4(OSBPL2):c.1250-217T>C	noncoding	Benign
20	62293753	A	C	A62293753C	OSBPL2	NM_144498.4(OSBPL2):c.1341-32A>C	noncoding	Benign
20	62309283	G	A	G62309283A	LAMA5	NM_005560.6(LAMA5):c.*53C>T	noncoding	Benign
20	62309371	C	T	C62309371T	LAMA5	NM_005560.6(LAMA5):c.11053G>A:p.Gly3685Arg	coding	Benign/Likely_benign
20	62309595	T	G	T62309595G	LAMA5	NM_005560.6(LAMA5):c.10949-120A>C	noncoding	Benign
20	62309771	G	A	G62309771A	LAMA5	NM_005560.6(LAMA5):c.10893C>T:p.Pro3631=	coding	Benign
20	62309854	C	T	C62309854T	LAMA5	NM_005560.6(LAMA5):c.10829-19G>A	noncoding	Benign
20	62310086	C	A	C62310086A	LAMA5	NM_005560.6(LAMA5):c.10735-5G>T	noncoding	Benign
20	62310306	G	A	G62310306A	LAMA5	NM_005560.6(LAMA5):c.10606C>T:p.Pro3536Ser	coding	Benign
20	62310372	C	A	C62310372A	LAMA5	NM_005560.6(LAMA5):c.10600+47G>T	noncoding	Benign
20	62310392	A	G	A62310392G	LAMA5	NM_005560.6(LAMA5):c.10600+27T>C	noncoding	Benign
20	62311022	G	A	G62311022A	LAMA5	NM_005560.6(LAMA5):c.10161C>T:p.Pro3387=	coding	Benign
20	62311097	G	A	G62311097A	LAMA5	NM_005560.6(LAMA5):c.10089-3C>T	noncoding	Benign
20	62311517	C	T	C62311517T	LAMA5	NM_005560.6(LAMA5):c.9826G>A:p.Val3276Ile	coding	Benign
20	62311548	G	A	G62311548A	LAMA5	NM_005560.6(LAMA5):c.9807-12C>T	noncoding	Benign
20	62311555	C	T	C62311555T	LAMA5	NM_005560.6(LAMA5):c.9807-19G>A	noncoding	Benign
20	62311931	G	A	G62311931A	LAMA5	NM_005560.6(LAMA5):c.9624C>T:p.Ser3208=	coding	Benign
20	62311964	G	A	G62311964A	LAMA5	NM_005560.6(LAMA5):c.9591C>T:p.Ala3197=	coding	Benign
20	62312183	C	T	C62312183T	LAMA5	NM_005560.6(LAMA5):c.9494G>A:p.Arg3165Gln	coding	Benign
20	62312212	G	A	G62312212A	LAMA5	NM_005560.6(LAMA5):c.9465C>T:p.Ser3155=	coding	Benign
20	62312229	C	T	C62312229T	LAMA5	NM_005560.6(LAMA5):c.9448G>A:p.Gly3150Ser	coding	Benign
20	62312230	G	A	G62312230A	LAMA5	NM_005560.6(LAMA5):c.9447C>T:p.Ser3149=	coding	Benign
20	62312321	G	A	G62312321A	LAMA5	NM_005560.6(LAMA5):c.9361-5C>T	noncoding	Benign
20	62312346	G	T	G62312346T	LAMA5	NM_005560.6(LAMA5):c.9361-30C>A	noncoding	Benign
20	62312412	G	A	G62312412A	LAMA5	NM_005560.6(LAMA5):c.9348C>T:p.Thr3116=	coding	Benign
20	62312471	G	A	G62312471A	LAMA5	NM_005560.6(LAMA5):c.9289C>T:p.Leu3097=	coding	Benign
20	62312525	G	A	G62312525A	LAMA5	NM_005560.6(LAMA5):c.9235C>T:p.Arg3079Trp	coding	Benign
20	62312528	G	A	G62312528A	LAMA5	NM_005560.6(LAMA5):c.9232C>T:p.Arg3078Ter	coding	Pathogenic
20	62312619	G	A	G62312619A	LAMA5	NM_005560.6(LAMA5):c.9227+13C>T	noncoding	Benign
20	62312635	G	A	G62312635A	LAMA5	NM_005560.6(LAMA5):c.9224C>T:p.Pro3075Leu	coding	Benign
20	62312676	G	A	G62312676A	LAMA5	NM_005560.6(LAMA5):c.9183C>T:p.Asp3061=	coding	Benign
20	62312901	G	A	G62312901A	LAMA5	NM_005560.6(LAMA5):c.9065C>T:p.Ser3022Leu	coding	Benign
20	62312996	G	A	G62312996A	LAMA5	NM_005560.6(LAMA5):c.8970C>T:p.Cys2990=	coding	Benign
20	62313070	C	T	C62313070T	LAMA5	NM_005560.6(LAMA5):c.8955+18G>A	noncoding	Benign
20	62313190	G	A	G62313190A	LAMA5	NM_005560.6(LAMA5):c.8853C>T:p.Phe2951=	coding	Benign
20	62314257	A	C	A62314257C	LAMA5	NM_005560.6(LAMA5):c.8504+47T>G	noncoding	Benign
20	62314329	G	T	G62314329T	LAMA5	NM_005560.6(LAMA5):c.8479C>A:p.Gln2827Lys	coding	Benign
20	62314837	G	A	G62314837A	LAMA5	NM_005560.6(LAMA5):c.8158C>T:p.Arg2720Ter	coding	Pathogenic
20	62315319	C	T	C62315319T	LAMA5	NM_005560.6(LAMA5):c.7868-112G>A	noncoding	Benign
20	62315711	A	C	A62315711C	LAMA5	NM_005560.6(LAMA5):c.7867+237T>G	noncoding	Benign
20	62315752	C	T	C62315752T	LAMA5	NM_005560.6(LAMA5):c.7867+196G>A	noncoding	Benign
20	62316232	A	G	A62316232G	LAMA5	NM_005560.6(LAMA5):c.7757-174T>C	noncoding	Benign
20	62316646	G	A	G62316646A	LAMA5	NM_005560.6(LAMA5):c.7756+25C>T	noncoding	Benign
20	62316930	G	C	G62316930C	LAMA5	NM_005560.6(LAMA5):c.7605C>G:p.Ala2535=	coding	Benign
20	62317060	G	A	G62317060A	LAMA5	NM_005560.6(LAMA5):c.7512-37C>T	noncoding	Benign
20	62317116	T	C	T62317116C	LAMA5	NM_005560.6(LAMA5):c.7512-93A>G	noncoding	Benign
20	62317394	C	T	C62317394T	LAMA5	NM_005560.6(LAMA5):c.7462G>A:p.Ala2488Thr	coding	Benign
20	62317470	A	G	A62317470G	LAMA5	NM_005560.6(LAMA5):c.7386T>C:p.Asp2462=	coding	Benign
20	62317489	C	T	C62317489T	LAMA5	NM_005560.6(LAMA5):c.7367G>A:p.Arg2456His	coding	Benign
20	62317636	C	T	C62317636T	LAMA5	NM_005560.6(LAMA5):c.7356+26G>A	noncoding	Benign
20	62317644	G	A	G62317644A	LAMA5	NM_005560.6(LAMA5):c.7356+18C>T	noncoding	Benign
20	62317700	C	T	C62317700T	LAMA5	NM_005560.6(LAMA5):c.7318G>A:p.Val2440Ile	coding	Benign
20	62317726	T	A	T62317726A	LAMA5	NM_005560.6(LAMA5):c.7292A>T:p.His2431Leu	coding	Benign
20	62317759	G	C	G62317759C	LAMA5	NM_005560.6(LAMA5):c.7259C>G:p.Ser2420Cys	coding	Benign
20	62318402	A	G	A62318402G	LAMA5	NM_005560.6(LAMA5):c.7239+52T>C	noncoding	Benign
20	62318443	G	A	G62318443A	LAMA5	NM_005560.6(LAMA5):c.7239+11C>T	noncoding	Benign
20	62318450	T	G	T62318450G	LAMA5	NM_005560.6(LAMA5):c.7239+4A>C	noncoding	Benign
20	62318508	T	C	T62318508C	LAMA5	NM_005560.6(LAMA5):c.7185A>G:p.Thr2395=	coding	Benign
20	62318583	G	C	G62318583C	LAMA5	NM_005560.6(LAMA5):c.7110C>G:p.Thr2370=	coding	Benign
20	62318923	C	T	C62318923T	LAMA5	NM_005560.6(LAMA5):c.6962G>A:p.Arg2321Gln	coding	Benign
20	62318971	G	C	G62318971C	LAMA5	NM_005560.6(LAMA5):c.6914C>G:p.Ser2305Trp	coding	Benign
20	62319222	C	T	C62319222T	LAMA5	NM_005560.6(LAMA5):c.6872-209G>A	noncoding	Benign
20	62319784	G	A	G62319784A	LAMA5	NM_005560.6(LAMA5):c.6771C>T:p.Thr2257=	coding	Benign
20	62319814	C	T	C62319814T	LAMA5	NM_005560.6(LAMA5):c.6760-19G>A	noncoding	Benign
20	62320641	C	T	C62320641T	LAMA5	NM_005560.6(LAMA5):c.6677G>A:p.Arg2226His	coding	Benign
20	62320682	A	G	A62320682G	LAMA5	NM_005560.6(LAMA5):c.6649-13T>C	noncoding	Benign
20	62320820	G	A	G62320820A	LAMA5	NM_005560.6(LAMA5):c.6567C>T:p.His2189=	coding	Benign
20	62320848	C	T	C62320848T	LAMA5	NM_005560.6(LAMA5):c.6539G>A:p.Arg2180Gln	coding	Benign
20	62322015	A	G	A62322015G	LAMA5	NM_005560.6(LAMA5):c.6496+4T>C	noncoding	Benign
20	62322048	C	T	C62322048T	LAMA5	NM_005560.6(LAMA5):c.6467G>A:p.Gly2156Glu	coding	Benign
20	62322147	C	T	C62322147T	LAMA5	NM_005560.6(LAMA5):c.6368G>A:p.Arg2123His	coding	Benign
20	62322360	G	A	G62322360A	LAMA5	NM_005560.6(LAMA5):c.6255C>T:p.Ser2085=	coding	Benign
20	62322431	C	T	C62322431T	LAMA5	NM_005560.6(LAMA5):c.6184G>A:p.Asp2062Asn	coding	Benign
20	62322432	G	A	G62322432A	LAMA5	NM_005560.6(LAMA5):c.6183C>T:p.Phe2061=	coding	Benign
20	62322505	C	G	C62322505G	LAMA5	NM_005560.6(LAMA5):c.6166-56G>C	noncoding	Benign
20	62322506	C	A	C62322506A	LAMA5	NM_005560.6(LAMA5):c.6166-57G>T	noncoding	Benign
20	62322514	C	G	C62322514G	LAMA5	NM_005560.6(LAMA5):c.6166-65G>C	noncoding	Benign
20	62322665	C	T	C62322665T	LAMA5	NM_005560.6(LAMA5):c.6158G>A:p.Arg2053His	coding	Benign
20	62322666	G	A	G62322666A	LAMA5	NM_005560.6(LAMA5):c.6157C>T:p.Arg2053Cys	coding	Pathogenic
20	62322688	G	A	G62322688A	LAMA5	NM_005560.6(LAMA5):c.6135C>T:p.Gly2045=	coding	Benign
20	62322716	T	C	T62322716C	LAMA5	NM_005560.6(LAMA5):c.6107A>G:p.His2036Arg	coding	Benign
20	62323449	C	T	C62323449T	LAMA5	NM_005560.6(LAMA5):c.6064+7G>A	noncoding	Benign
20	62323450	G	A	G62323450A	LAMA5	NM_005560.6(LAMA5):c.6064+6C>T	noncoding	Benign
20	62323525	T	C	T62323525C	LAMA5	NM_005560.6(LAMA5):c.5995A>G:p.Thr1999Ala	coding	Benign
20	62323598	G	A	G62323598A	LAMA5	NM_005560.6(LAMA5):c.5922C>T:p.Asn1974=	coding	Benign
20	62323604	G	A	G62323604A	LAMA5	NM_005560.6(LAMA5):c.5916C>T:p.Ser1972=	coding	Benign
20	62323664	C	T	C62323664T	LAMA5	NM_005560.6(LAMA5):c.5856G>A:p.Ala1952=	coding	Benign
20	62324061	C	T	C62324061T	LAMA5	NM_005560.6(LAMA5):c.5768+19G>A	noncoding	Benign
20	62324062	G	A	G62324062A	LAMA5	NM_005560.6(LAMA5):c.5768+18C>T	noncoding	Benign
20	62324126	C	T	C62324126T	LAMA5	NM_005560.6(LAMA5):c.5722G>A:p.Ala1908Thr	coding	Benign
20	62324127	G	A	G62324127A	LAMA5	NM_005560.6(LAMA5):c.5721C>T:p.Ser1907=	coding	Benign
20	62324140	C	T	C62324140T	LAMA5	NM_005560.6(LAMA5):c.5708G>A:p.Arg1903Lys	coding	Benign
20	62324150	C	T	C62324150T	LAMA5	NM_005560.6(LAMA5):c.5698G>A:p.Val1900Met	coding	Benign
20	62324151	G	A	G62324151A	LAMA5	NM_005560.6(LAMA5):c.5697C>T:p.Phe1899=	coding	Benign
20	62324366	C	T	C62324366T	LAMA5	NM_005560.6(LAMA5):c.5643+75G>A	noncoding	Benign
20	62325178	T	C	T62325178C	LAMA5	NM_005560.6(LAMA5):c.5529+138A>G	noncoding	Benign
20	62325425	A	G	A62325425G	LAMA5	NM_005560.6(LAMA5):c.5420T>C:p.Phe1807Ser	coding	Benign
20	62325523	C	A	C62325523A	LAMA5	NM_005560.6(LAMA5):c.5322G>T:p.Thr1774=	coding	Benign
20	62326504	A	G	A62326504G	LAMA5	NM_005560.6(LAMA5):c.5298+173T>C	noncoding	Benign
20	62326570	G	C	G62326570C	LAMA5	NM_005560.6(LAMA5):c.5298+107C>G	noncoding	Benign
20	62326613	T	C	T62326613C	LAMA5	NM_005560.6(LAMA5):c.5298+64A>G	noncoding	Benign
20	62326706	C	T	C62326706T	LAMA5	NM_005560.6(LAMA5):c.5269G>A:p.Val1757Ile	coding	Benign
20	62326819	G	A	G62326819A	LAMA5	NM_005560.6(LAMA5):c.5214+46C>T	noncoding	Benign
20	62326930	G	A	G62326930A	LAMA5	NM_005560.6(LAMA5):c.5149C>T:p.His1717Tyr	coding	Benign
20	62327158	G	A	G62327158A	LAMA5	NM_005560.6(LAMA5):c.5112+75C>T	noncoding	Benign
20	62327310	G	A	G62327310A	LAMA5	NM_005560.6(LAMA5):c.5035C>T:p.Arg1679Trp	coding	Benign
20	62327333	G	A	G62327333A	LAMA5	NM_005560.6(LAMA5):c.5012C>T:p.Thr1671Met	coding	Benign
20	62327346	G	A	G62327346A	LAMA5	NM_005560.6(LAMA5):c.4999C>T:p.Arg1667Trp	coding	Benign
20	62327421	G	A	G62327421A	LAMA5	NM_005560.6(LAMA5):c.4939-15C>T	noncoding	Benign
20	62327434	C	T	C62327434T	LAMA5	NM_005560.6(LAMA5):c.4939-28G>A	noncoding	Benign
20	62327488	A	C	A62327488C	LAMA5	NM_005560.6(LAMA5):c.4938+41T>G	noncoding	Benign
20	62327827	C	T	C62327827T	LAMA5	NM_005560.6(LAMA5):c.4797+39G>A	noncoding	Benign
20	62328222	C	T	C62328222T	LAMA5	NM_005560.6(LAMA5):c.4652+19G>A	noncoding	Benign
20	62328294	G	A	G62328294A	LAMA5	NM_005560.6(LAMA5):c.4599C>T:p.Pro1533=	coding	Benign
20	62328363	C	T	C62328363T	LAMA5	NM_005560.6(LAMA5):c.4530G>A:p.Leu1510=	coding	Benign
20	62328693	G	A	G62328693A	LAMA5	NM_005560.6(LAMA5):c.4447+151C>T	noncoding	Benign
20	62328984	C	T	C62328984T	LAMA5	NM_005560.6(LAMA5):c.4307G>A:p.Arg1436His	coding	Benign
20	62329160	C	T	C62329160T	LAMA5	NM_005560.6(LAMA5):c.4213G>A:p.Ala1405Thr	coding	Pathogenic/Likely_pathogenic
20	62329401	G	A	G62329401A	LAMA5	NM_005560.6(LAMA5):c.4120-148C>T	noncoding	Benign
20	62329448	A	G	A62329448G	LAMA5	NM_005560.6(LAMA5):c.4120-195T>C	noncoding	Benign
20	62329797	T	C	T62329797C	LAMA5	NM_005560.6(LAMA5):c.4099A>G:p.Lys1367Glu	coding	Benign
20	62330661	T	C	T62330661C	LAMA5	NM_005560.6(LAMA5):c.3853-47A>G	noncoding	Benign
20	62330691	A	G	A62330691G	LAMA5	NM_005560.6(LAMA5):c.3852+52T>C	noncoding	Benign
20	62330822	A	G	A62330822G	LAMA5	NM_005560.6(LAMA5):c.3773T>C:p.Met1258Thr	coding	Benign
20	62330999	C	T	C62330999T	LAMA5	NM_005560.6(LAMA5):c.3650+33G>A	noncoding	Benign
20	62331213	C	T	C62331213T	LAMA5	NM_005560.6(LAMA5):c.3553-84G>A	noncoding	Benign
20	62332158	T	C	T62332158C	LAMA5	NM_005560.6(LAMA5):c.3552+214A>G	noncoding	Benign
20	62332390	T	C	T62332390C	LAMA5	NM_005560.6(LAMA5):c.3534A>G:p.Glu1178=	coding	Benign
20	62332619	G	A	G62332619A	LAMA5	NM_005560.6(LAMA5):c.3381C>T:p.Ala1127=	coding	Benign
20	62332839	C	T	C62332839T	LAMA5	NM_005560.6(LAMA5):c.3283-122G>A	noncoding	Benign
20	62333826	G	A	G62333826A	LAMA5	NM_005560.6(LAMA5):c.2878+75C>T	noncoding	Benign
20	62333908	G	A	G62333908A	LAMA5	NM_005560.6(LAMA5):c.2871C>T:p.Cys957=	coding	Benign
20	62333913	T	C	T62333913C	LAMA5	NM_005560.6(LAMA5):c.2866A>G:p.Thr956Ala	coding	Benign
20	62334004	A	G	A62334004G	LAMA5	NM_005560.6(LAMA5):c.2775T>C:p.Pro925=	coding	Benign
20	62334056	C	G	C62334056G	LAMA5	NM_005560.6(LAMA5):c.2740-17G>C	noncoding	Benign
20	62334260	C	T	C62334260T	LAMA5	NM_005560.6(LAMA5):c.2665G>A:p.Val889Met	coding	Benign
20	62334410	G	A	G62334410A	LAMA5	NM_005560.6(LAMA5):c.2583-68C>T	noncoding	Benign
20	62334462	G	T	G62334462T	LAMA5	NM_005560.6(LAMA5):c.2582+60C>A	noncoding	Benign
20	62334739	C	A	C62334739A	LAMA5	NM_005560.6(LAMA5):c.2483-118G>T	noncoding	Benign
20	62334752	T	G	T62334752G	LAMA5	NM_005560.6(LAMA5):c.2483-131A>C	noncoding	Benign
20	62334918	T	C	T62334918C	LAMA5	NM_005560.6(LAMA5):c.2482+103A>G	noncoding	Benign
20	62335068	T	G	T62335068G	LAMA5	NM_005560.6(LAMA5):c.2435A>C:p.Lys812Thr	coding	Benign
20	62335288	G	A	G62335288A	LAMA5	NM_005560.6(LAMA5):c.2324-19C>T	noncoding	Benign
20	62336342	G	A	G62336342A	LAMA5	NM_005560.6(LAMA5):c.2321C>T:p.Thr774Ile	coding	Benign
20	62336902	G	A	G62336902A	LAMA5	NM_005560.6(LAMA5):c.2165-116C>T	noncoding	Benign
20	62336933	C	T	C62336933T	LAMA5	NM_005560.6(LAMA5):c.2165-147G>A	noncoding	Benign
20	62337627	T	C	T62337627C	LAMA5	NM_005560.6(LAMA5):c.2127A>G:p.Thr709=	coding	Benign
20	62337645	C	T	C62337645T	LAMA5	NM_005560.6(LAMA5):c.2109G>A:p.Thr703=	coding	Benign
20	62337946	G	A	G62337946A	LAMA5	NM_005560.6(LAMA5):c.1892-8C>T	noncoding	Benign
20	62338071	A	G	A62338071G	LAMA5	NM_005560.6(LAMA5):c.1836T>C:p.Ala612=	coding	Benign
20	62338386	C	T	C62338386T	LAMA5	NM_005560.6(LAMA5):c.1619-17G>A	noncoding	Benign
20	62338439	T	C	T62338439C	LAMA5	NM_005560.6(LAMA5):c.1618+29A>G	noncoding	Benign
20	62338497	G	A	G62338497A	LAMA5	NM_005560.6(LAMA5):c.1589C>T:p.Ala530Val	coding	Benign
20	62345644	T	C	T62345644C	LAMA5	NM_005560.6(LAMA5):c.1477+174A>G	noncoding	Benign
20	62345831	G	A	G62345831A	LAMA5	NM_005560.6(LAMA5):c.1464C>T:p.Ala488=	coding	Benign
20	62345988	T	C	T62345988C	LAMA5	NM_005560.6(LAMA5):c.1417+93A>G	noncoding	Benign
20	62346230	G	A	G62346230A	LAMA5	NM_005560.6(LAMA5):c.1283-15C>T	noncoding	Benign
20	62346268	G	A	G62346268A	LAMA5	NM_005560.6(LAMA5):c.1283-53C>T	noncoding	Benign
20	62346505	C	T	C62346505T	LAMA5	NM_005560.6(LAMA5):c.1282+1G>A	noncoding	Pathogenic
20	62346587	T	C	T62346587C	LAMA5	NM_005560.6(LAMA5):c.1201A>G:p.Thr401Ala	coding	Benign
20	62346609	T	C	T62346609C	LAMA5	NM_005560.6(LAMA5):c.1192-13A>G	noncoding	Benign
20	62346645	A	G	A62346645G	LAMA5	NM_005560.6(LAMA5):c.1191+37T>C	noncoding	Benign
20	62346665	C	A	C62346665A	LAMA5	NM_005560.6(LAMA5):c.1191+17G>T	noncoding	Benign
20	62346840	A	G	A62346840G	LAMA5	NM_005560.6(LAMA5):c.1073-40T>C	noncoding	Benign
20	62351554	C	T	C62351554T	LAMA5	NM_005560.6(LAMA5):c.956+150G>A	noncoding	Benign
20	62351772	G	A	G62351772A	LAMA5	NM_005560.6(LAMA5):c.888C>T:p.Ile296=	coding	Benign
20	62352201	G	A	G62352201A	LAMA5	NM_005560.6(LAMA5):c.687+41C>T	noncoding	Benign
20	62352293	C	T	C62352293T	LAMA5	NM_005560.6(LAMA5):c.636G>A:p.Ala212=	coding	Benign
20	62352356	G	A	G62352356A	LAMA5	NM_005560.6(LAMA5):c.573C>T:p.Ser191=	coding	Benign
20	62352375	G	A	G62352375A	LAMA5	NM_005560.6(LAMA5):c.569-15C>T	noncoding	Benign
20	62352419	G	A	G62352419A	LAMA5	NM_005560.6(LAMA5):c.569-59C>T	noncoding	Benign
20	62352426	G	A	G62352426A	LAMA5	NM_005560.6(LAMA5):c.569-66C>T	noncoding	Benign
20	62352482	C	T	C62352482T	LAMA5	NM_005560.6(LAMA5):c.569-122G>A	noncoding	Benign
20	62352495	A	G	A62352495G	LAMA5	NM_005560.6(LAMA5):c.569-135T>C	noncoding	Benign
20	62352557	G	C	G62352557C	LAMA5	NM_005560.6(LAMA5):c.569-197C>G	noncoding	Benign
20	62353012	C	T	C62353012T	LAMA5	NM_005560.6(LAMA5):c.568+122G>A	coding	Benign
20	62353047	C	T	C62353047T	LAMA5	NM_005560.6(LAMA5):c.568+87G>A	coding	Benign
20	62362381	C	T	C62362381T	LAMA5	NM_005560.6(LAMA5):c.450+19G>A	noncoding	Benign
20	62362460	A	G	A62362460G	LAMA5	NM_005560.6(LAMA5):c.390T>C:p.Ser130=	coding	Benign
20	62362541	A	G	A62362541G	LAMA5	NM_005560.6(LAMA5):c.309T>C:p.Cys103=	coding	Benign
20	62366766	C	A	C62366766A	LAMA5	NM_005560.6(LAMA5):c.297+183G>T	noncoding	Benign
20	62366813	T	C	T62366813C	LAMA5	NM_005560.6(LAMA5):c.297+136A>G	noncoding	Benign
20	62367080	C	A	C62367080A	LAMA5	NM_005560.6(LAMA5):c.166G>T:p.Ala56Ser	coding	Benign
20	62367218	C	A	C62367218A	LAMA5	NM_005560.6(LAMA5):c.28G>T:p.Ala10Ser	coding	Benign
20	62406968	C	T	C62406968T	CABLES2	NM_031215.3(CABLES2):c.309G>A:p.Leu103=	coding	Benign
20	62464902	T	C	T62464902C	GATA5	NM_080473.5(GATA5):c.1128A>G:p.Pro376=	coding	Benign
20	62465069	G	C	G62465069C	GATA5	NM_080473.5(GATA5):c.1039-78C>G	noncoding	Benign
20	62465257	G	T	G62465257T	GATA5	NM_080473.5(GATA5):c.1038+83C>A	noncoding	Benign
20	62465397	C	G	C62465397G	GATA5	NM_080473.5(GATA5):c.981G>C:p.Ser327=	coding	Benign
20	62465612	C	T	C62465612T	GATA5	NM_080473.5(GATA5):c.914-148G>A	noncoding	Benign
20	62465895	C	T	C62465895T	GATA5	NM_080473.5(GATA5):c.852G>A:p.Lys284=	coding	Benign
20	62466277	C	T	C62466277T	GATA5	NM_080473.5(GATA5):c.825+149G>A	noncoding	Benign
20	62466367	G	A	G62466367A	GATA5	NM_080473.5(GATA5):c.825+59C>T	noncoding	Benign
20	62466492	C	T	C62466492T	GATA5	NM_080473.5(GATA5):c.759G>A:p.Leu253=	coding	Benign
20	62466561	C	T	C62466561T	GATA5	NM_080473.5(GATA5):c.700-10G>A	noncoding	Benign
20	62466597	G	C	G62466597C	GATA5	NM_080473.5(GATA5):c.700-46C>G	noncoding	Benign
20	62466631	C	T	C62466631T	GATA5	NM_080473.5(GATA5):c.700-80G>A	noncoding	Benign
20	62466679	A	G	A62466679G	GATA5	NM_080473.5(GATA5):c.700-128T>C	noncoding	Benign
20	62466760	C	T	C62466760T	GATA5	NM_080473.5(GATA5):c.700-209G>A	noncoding	Benign
20	62466811	T	C	T62466811C	GATA5	NM_080473.5(GATA5):c.700-260A>G	noncoding	Benign
20	62466850	G	A	G62466850A	GATA5	NM_080473.5(GATA5):c.700-299C>T	noncoding	Benign
20	62473392	C	T	C62473392T	GATA5	NM_080473.5(GATA5):c.699+11G>A	noncoding	Benign/Likely_benign
20	62473493	G	A	G62473493A	GATA5	NM_080473.5(GATA5):c.609C>T:p.Asp203=	coding	Benign
20	62473875	G	A	G62473875A	GATA5	NM_080473.5(GATA5):c.524-297C>T	noncoding	Benign
20	62474775	T	C	T62474775C	GATA5	NM_080473.5(GATA5):c.523+224A>G	noncoding	Benign
20	62475026	C	T	C62475026T	GATA5	NM_080473.5(GATA5):c.496G>A:p.Gly166Ser	coding	Benign
20	62475216	G	A	G62475216A	GATA5	NM_080473.5(GATA5):c.306C>T:p.Pro102=	coding	Benign/Likely_benign
20	62475290	C	T	C62475290T	GATA5	NM_080473.5(GATA5):c.232G>A:p.Gly78Ser	coding	Benign/Likely_benign
20	62475321	T	A	T62475321A	GATA5	NM_080473.5(GATA5):c.201A>T:p.Thr67=	coding	Benign/Likely_benign
20	62475323	T	G	T62475323G	GATA5	NM_080473.5(GATA5):c.199A>C:p.Thr67Pro	coding	Benign
20	62475514	T	C	T62475514C	GATA5	NM_080473.5(GATA5):c.8A>G:p.Gln3Arg	coding	Benign
20	62475569	G	A	G62475569A	GATA5	NM_080473.5(GATA5):c.-21-27C>T	noncoding	Benign
20	62475755	C	T	C62475755T	GATA5	NM_080473.5(GATA5):c.-22+175G>A	noncoding	Benign
20	62817083	T	A	T62817083A	COL9A3	NM_001853.4(COL9A3):c.19T>A:p.Cys7Ser	coding	Benign/Likely_benign
20	62817686	G	T	G62817686T	COL9A3	NM_001853.4(COL9A3):c.147+51G>T	noncoding	Benign
20	62817705	C	T	C62817705T	COL9A3	NM_001853.4(COL9A3):c.147+70C>T	noncoding	Benign
20	62817789	G	A	G62817789A	COL9A3	NM_001853.4(COL9A3):c.147+154G>A	noncoding	Benign
20	62818503	T	C	T62818503C	COL9A3	NM_001853.4(COL9A3):c.148-15T>C	noncoding	Benign
20	62818555	T	C	T62818555C	COL9A3	NM_001853.4(COL9A3):c.183+2T>C	noncoding	Pathogenic
20	62818573	G	A	G62818573A	COL9A3	NM_001853.4(COL9A3):c.183+20G>A	noncoding	Benign
20	62818817	A	G	A62818817G	COL9A3	NM_001853.4(COL9A3):c.183+264A>G	noncoding	Benign
20	62819001	G	A	G62819001A	COL9A3	NM_001853.4(COL9A3):c.184-221G>A	noncoding	Benign
20	62819275	G	A	G62819275A	COL9A3	NM_001853.4(COL9A3):c.237G>A:p.Pro79=	coding	Benign/Likely_benign
20	62819913	C	A	C62819913A	COL9A3	NM_001853.4(COL9A3):c.256-16C>A	noncoding	Benign
20	62819941	C	T	C62819941T	COL9A3	NM_001853.4(COL9A3):c.268C>T:p.Arg90Ter	coding	Pathogenic
20	62819993	G	A	G62819993A	COL9A3	NM_001853.4(COL9A3):c.309+11G>A	noncoding	Benign/Likely_benign
20	62820857	A	G	A62820857G	COL9A3	NM_001853.4(COL9A3):c.310-324A>G	noncoding	Benign
20	62820867	G	A	G62820867A	COL9A3	NM_001853.4(COL9A3):c.310-314G>A	noncoding	Benign
20	62824462	G	A	G62824462A	COL9A3	NM_001853.4(COL9A3):c.537G>A:p.Pro179=	coding	Benign/Likely_benign
20	62824613	G	C	G62824613C	COL9A3	NM_001853.4(COL9A3):c.576+112G>C	noncoding	Benign
20	62825012	C	T	C62825012T	COL9A3	NM_001853.4(COL9A3):c.621C>T:p.Asp207=	coding	Benign
20	62825088	G	A	G62825088A	COL9A3	NM_001853.4(COL9A3):c.630+67G>A	noncoding	Benign
20	62825196	G	T	G62825196T	COL9A3	NM_001853.4(COL9A3):c.630+175G>T	noncoding	Benign
20	62825710	G	C	G62825710C	COL9A3	NM_001853.4(COL9A3):c.631-107G>C	noncoding	Benign
20	62825834	T	C	T62825834C	COL9A3	NM_001853.4(COL9A3):c.648T>C:p.Pro216=	coding	Benign
20	62826318	C	T	C62826318T	COL9A3	NM_001853.4(COL9A3):c.738+61C>T	noncoding	Benign
20	62826423	G	A	G62826423A	COL9A3	NM_001853.4(COL9A3):c.738+166G>A	noncoding	Benign
20	62826497	A	G	A62826497G	COL9A3	NM_001853.4(COL9A3):c.738+240A>G	noncoding	Benign
20	62827459	C	A	C62827459A	COL9A3	NM_001853.4(COL9A3):c.846+165C>A	noncoding	Benign
20	62827907	C	T	C62827907T	COL9A3	NM_001853.4(COL9A3):c.847-16C>T	noncoding	Benign/Likely_benign
20	62827987	G	A	G62827987A	COL9A3	NM_001853.4(COL9A3):c.900+11G>A	noncoding	Benign
20	62828014	C	T	C62828014T	COL9A3	NM_001853.4(COL9A3):c.900+38C>T	noncoding	Benign
20	62828084	A	G	A62828084G	COL9A3	NM_001853.4(COL9A3):c.900+108A>G	noncoding	Benign
20	62828272	A	G	A62828272G	COL9A3	NM_001853.4(COL9A3):c.900+296A>G	noncoding	Benign
20	62828631	C	G	C62828631G	COL9A3	NM_001853.4(COL9A3):c.901-133C>G	noncoding	Benign
20	62829020	C	T	C62829020T	COL9A3	NM_001853.4(COL9A3):c.1008+44C>T	noncoding	Benign
20	62829038	A	G	A62829038G	COL9A3	NM_001853.4(COL9A3):c.1008+62A>G	noncoding	Benign
20	62829098	T	C	T62829098C	COL9A3	NM_001853.4(COL9A3):c.1008+122T>C	noncoding	Benign
20	62829615	C	G	C62829615G	COL9A3	NM_001853.4(COL9A3):c.1054-13C>G	noncoding	Benign
20	62830056	G	T	G62830056T	COL9A3	NM_001853.4(COL9A3):c.1161+237G>T	noncoding	Benign
20	62830193	G	T	G62830193T	COL9A3	NM_001853.4(COL9A3):c.1162-167G>T	noncoding	Benign
20	62830402	C	T	C62830402T	COL9A3	NM_001853.4(COL9A3):c.1204C>T:p.Arg402Ter	coding	Pathogenic
20	62831857	C	T	C62831857T	COL9A3	NM_001853.4(COL9A3):c.1288-297C>T	noncoding	Benign
20	62832790	G	A	G62832790A	COL9A3	NM_001853.4(COL9A3):c.1324-230G>A	noncoding	Benign
20	62832916	G	T	G62832916T	COL9A3	NM_001853.4(COL9A3):c.1324-104G>T	noncoding	Benign
20	62832919	G	A	G62832919A	COL9A3	NM_001853.4(COL9A3):c.1324-101G>A	noncoding	Benign
20	62833087	T	A	T62833087A	COL9A3	NM_001853.4(COL9A3):c.1368+23T>A	noncoding	Benign
20	62835966	C	T	C62835966T	COL9A3	NM_001853.4(COL9A3):c.1401+13C>T	noncoding	Benign/Likely_benign
20	62836093	C	T	C62836093T	COL9A3	NM_001853.4(COL9A3):c.1402-94C>T	noncoding	Benign
20	62836337	C	T	C62836337T	COL9A3	NM_001853.4(COL9A3):c.1548+4C>T	noncoding	Benign/Likely_benign
20	62836633	C	T	C62836633T	COL9A3	NM_001853.4(COL9A3):c.1603+101C>T	noncoding	Benign
20	62836685	C	G	C62836685G	COL9A3	NM_001853.4(COL9A3):c.1603+153C>G	noncoding	Benign
20	62837208	C	T	C62837208T	COL9A3	NM_001853.4(COL9A3):c.1729C>T:p.Arg577Ter	coding	Pathogenic
20	62837255	C	T	C62837255T	COL9A3	NM_001853.4(COL9A3):c.1776C>T:p.Pro592=	coding	Benign/Likely_benign
20	62838542	G	A	G62838542A	COL9A3	NM_001853.4(COL9A3):c.1787-142G>A	noncoding	Benign
20	62838617	A	G	A62838617G	COL9A3	NM_001853.4(COL9A3):c.1787-67A>G	noncoding	Benign
20	62838773	C	T	C62838773T	COL9A3	NM_001853.4(COL9A3):c.1864+12C>T	noncoding	Benign/Likely_benign
20	62840415	C	T	C62840415T	COL9A3	NM_001853.4(COL9A3):c.1865-127C>T	noncoding	Benign
20	62840416	G	C	G62840416C	COL9A3	NM_001853.4(COL9A3):c.1865-126G>C	noncoding	Benign
20	62840447	A	T	A62840447T	COL9A3	NM_001853.4(COL9A3):c.1865-95A>T	noncoding	Benign
20	62840595	G	A	G62840595A	COL9A3	NM_001853.4(COL9A3):c.1918G>A:p.Glu640Lys	coding	Benign
20	62840768	G	A	G62840768A	COL9A3	NM_001853.4(COL9A3):c.*36G>A	noncoding	Benign
20	62840866	G	A	G62840866A	COL9A3	NM_001853.4(COL9A3):c.*134G>A	noncoding	Benign
20	62840895	C	T	C62840895T	COL9A3	NM_001853.4(COL9A3):c.*163C>T	noncoding	Benign
20	63346204	G	A	G63346204A	CHRNA4	NM_000744.7(CHRNA4):c.*534C>T	noncoding	Benign
20	63346437	G	A	G63346437A	CHRNA4	NM_000744.7(CHRNA4):c.*301C>T	noncoding	Benign
20	63346483	G	A	G63346483A	CHRNA4	NM_000744.7(CHRNA4):c.*255C>T	noncoding	Benign
20	63346486	G	A	G63346486A	CHRNA4	NM_000744.7(CHRNA4):c.*252C>T	noncoding	Benign
20	63346520	A	C	A63346520C	CHRNA4	NM_000744.7(CHRNA4):c.*218T>G	noncoding	Benign
20	63346521	G	C	G63346521C	CHRNA4	NM_000744.7(CHRNA4):c.*217C>G	noncoding	Benign
20	63346594	C	G	C63346594G	CHRNA4	NM_000744.7(CHRNA4):c.*144G>C	noncoding	Benign
20	63346624	G	A	G63346624A	CHRNA4	NM_000744.7(CHRNA4):c.*114C>T	noncoding	Benign
20	63350251	T	C	T63350251C	CHRNA4	NM_000744.7(CHRNA4):c.1160A>G:p.Glu387Gly	coding	Benign/Likely_benign
20	63350401	G	A	G63350401A	CHRNA4	NM_000744.7(CHRNA4):c.1010C>T:p.Thr337Met	coding	Benign
20	63350404	C	T	C63350404T	CHRNA4	NM_000744.7(CHRNA4):c.1007G>A:p.Arg336His	coding	Benign
20	63350604	G	A	G63350604A	CHRNA4	NM_000744.7(CHRNA4):c.807C>T:p.Ser269=	coding	Benign
20	63351044	C	T	C63351044T	CHRNA4	NM_000744.7(CHRNA4):c.384-17G>A	noncoding	Benign/Likely_benign
20	63351160	C	T	C63351160T	CHRNA4	NM_000744.7(CHRNA4):c.384-133G>A	noncoding	Benign
20	63351186	T	C	T63351186C	CHRNA4	NM_000744.7(CHRNA4):c.384-159A>G	noncoding	Benign
20	63351199	T	G	T63351199G	CHRNA4	NM_000744.7(CHRNA4):c.384-172A>C	noncoding	Benign
20	63351210	G	A	G63351210A	CHRNA4	NM_000744.7(CHRNA4):c.384-183C>T	noncoding	Benign
20	63351222	G	A	G63351222A	CHRNA4	NM_000744.7(CHRNA4):c.384-195C>T	noncoding	Benign
20	63355777	C	T	C63355777T	CHRNA4	NM_000744.7(CHRNA4):c.383+198G>A	noncoding	Benign
20	63356124	G	A	G63356124A	CHRNA4	NM_000744.7(CHRNA4):c.274-40C>T	noncoding	Benign
20	63356147	A	C	A63356147C	CHRNA4	NM_000744.7(CHRNA4):c.274-63T>G	noncoding	Benign
20	63356159	T	G	T63356159G	CHRNA4	NM_000744.7(CHRNA4):c.274-75A>C	noncoding	Benign
20	63356441	C	T	C63356441T	CHRNA4	NM_000744.7(CHRNA4):c.229-26G>A	noncoding	Benign
20	63356470	C	T	C63356470T	CHRNA4	NM_000744.7(CHRNA4):c.229-55G>A	noncoding	Benign
20	63359507	C	T	C63359507T	CHRNA4	NM_000744.7(CHRNA4):c.228+41G>A	noncoding	Benign
20	63359526	C	T	C63359526T	CHRNA4	NM_000744.7(CHRNA4):c.228+22G>A	noncoding	Benign
20	63359869	C	G	C63359869G	CHRNA4	NM_000744.7(CHRNA4):c.77-170G>C	noncoding	Benign
20	63359895	T	C	T63359895C	CHRNA4	NM_000744.7(CHRNA4):c.77-196A>G	noncoding	Benign
20	63360995	G	A	G63360995A	CHRNA4	NM_000744.7(CHRNA4):c.76+95C>T	noncoding	Benign
20	63361076	G	T	G63361076T	CHRNA4	NM_000744.7(CHRNA4):c.76+14C>A	noncoding	Benign/Likely_benign
20	63361124	C	T	C63361124T	CHRNA4	NM_000744.7(CHRNA4):c.42G>A:p.Pro14=	coding	Benign/Likely_benign
20	63361347	G	A	G63361347A	CHRNA4	NM_000744.7(CHRNA4):c.-182C>T	noncoding	Benign
20	63361348	G	A	G63361348A	CHRNA4	NM_000744.7(CHRNA4):c.-183C>T	noncoding	Benign
20	63361453	T	A	T63361453A	CHRNA4	Single_allele	noncoding	Benign
20	63361486	A	G	A63361486G	CHRNA4	Single_allele	noncoding	Benign
20	63361542	G	A	G63361542A	CHRNA4	Single_allele	noncoding	Benign
20	63361680	C	T	C63361680T	CHRNA4	Single_allele	noncoding	Benign
20	63361854	C	T	C63361854T	CHRNA4	NR_110634.1(LOC100130587):n.219C>T	noncoding	Benign
20	63400714	G	A	G63400714A	KCNQ2	NM_172107.4(KCNQ2):c.*5930C>T	noncoding	Benign
20	63406349	G	A	G63406349A	KCNQ2	NM_172107.4(KCNQ2):c.*295C>T	noncoding	Benign
20	63406396	G	A	G63406396A	KCNQ2	NM_172107.4(KCNQ2):c.*248C>T	noncoding	Benign
20	63406615	G	A	G63406615A	KCNQ2	NM_172107.4(KCNQ2):c.*29C>T	noncoding	Benign
20	63406621	G	T	G63406621T	KCNQ2	NM_172107.4(KCNQ2):c.*23C>A	noncoding	Benign
20	63406671	G	A	G63406671A	KCNQ2	NM_172107.4(KCNQ2):c.2592C>T:p.Asp864=	coding	Benign
20	63406854	G	A	G63406854A	KCNQ2	NM_172107.4(KCNQ2):c.2409C>T:p.Ser803=	coding	Benign/Likely_benign
20	63406958	C	A	C63406958A	KCNQ2	NM_172107.4(KCNQ2):c.2305G>T:p.Glu769Ter	coding	Pathogenic
20	63406997	C	T	C63406997T	KCNQ2	NM_172107.4(KCNQ2):c.2266G>A:p.Gly756Ser	coding	Benign/Likely_benign
20	63407130	C	T	C63407130T	KCNQ2	NM_172107.4(KCNQ2):c.2133G>A:p.Gln711=	coding	Benign/Likely_benign
20	63407404	C	T	C63407404T	KCNQ2	NM_172107.4(KCNQ2):c.1888-29G>A	noncoding	Benign
20	63407435	A	G	A63407435G	KCNQ2	NM_172107.4(KCNQ2):c.1888-60T>C	noncoding	Benign
20	63408196	A	G	A63408196G	KCNQ2	NM_172107.4(KCNQ2):c.1887+217T>C	noncoding	Benign
20	63408383	C	A	C63408383A	KCNQ2	NM_172107.4(KCNQ2):c.1887+30G>T	noncoding	Benign
20	63408468	G	A	G63408468A	KCNQ2	NM_172107.4(KCNQ2):c.1832C>T:p.Ala611Val	coding	Benign/Likely_benign
20	63408561	C	A	C63408561A	KCNQ2	NM_172107.4(KCNQ2):c.1764-25G>T	noncoding	Benign
20	63413366	C	T	C63413366T	KCNQ2	NM_172107.4(KCNQ2):c.1763+84G>A	noncoding	Benign
20	63413399	G	A	G63413399A	KCNQ2	NM_172107.4(KCNQ2):c.1763+51C>T	noncoding	Benign
20	63413403	C	G	C63413403G	KCNQ2	NM_172107.4(KCNQ2):c.1763+47G>C	noncoding	Benign
20	63413509	G	A	G63413509A	KCNQ2	NM_172107.4(KCNQ2):c.1704C>T:p.Ile568=	coding	Benign/Likely_benign
20	63413513	A	T	A63413513T	KCNQ2	NM_172107.4(KCNQ2):c.1700T>A:p.Val567Asp	coding	Pathogenic
20	63413532	G	A	G63413532A	KCNQ2	NM_172107.4(KCNQ2):c.1681C>T:p.Pro561Ser	coding	Pathogenic
20	63413556	G	A	G63413556A	KCNQ2	NM_172107.4(KCNQ2):c.1657C>T:p.Arg553Trp	coding	Pathogenic
20	63413574	G	A	G63413574A	KCNQ2	NM_172107.4(KCNQ2):c.1639C>T:p.Arg547Trp	coding	Pathogenic/Likely_pathogenic
20	63414050	C	A	C63414050A	KCNQ2	NM_172107.4(KCNQ2):c.1631+38G>T	noncoding	Benign
20	63414086	A	G	A63414086G	KCNQ2	NM_172107.4(KCNQ2):c.1631+2T>C	noncoding	Pathogenic
20	63414948	G	A	G63414948A	KCNQ2	NM_172107.4(KCNQ2):c.1480C>T:p.Gln494Ter	coding	Pathogenic
20	63415008	C	A	C63415008A	KCNQ2	NM_172107.4(KCNQ2):c.1420G>T:p.Glu474Ter	coding	Pathogenic
20	63415053	G	A	G63415053A	KCNQ2	NM_172107.4(KCNQ2):c.1375C>T:p.Gln459Ter	coding	Pathogenic
20	63415144	G	A	G63415144A	KCNQ2	NM_172107.4(KCNQ2):c.1302-18C>T	noncoding	Benign
20	63415196	C	T	C63415196T	KCNQ2	NM_172107.4(KCNQ2):c.1302-70G>A	noncoding	Benign
20	63415331	G	A	G63415331A	KCNQ2	NM_172107.4(KCNQ2):c.1302-205C>T	noncoding	Benign
20	63419667	C	A	C63419667A	KCNQ2	NM_172107.4(KCNQ2):c.1253G>T:p.Gly418Val	coding	Benign/Likely_benign
20	63419744	G	A	G63419744A	KCNQ2	NM_172107.4(KCNQ2):c.1248-72C>T	noncoding	Benign
20	63423984	G	A	G63423984A	KCNQ2	NM_172107.4(KCNQ2):c.1247+193C>T	noncoding	Benign
20	63424130	C	T	C63424130T	KCNQ2	NM_172107.4(KCNQ2):c.1247+47G>A	noncoding	Benign
20	63428366	C	A	C63428366A	KCNQ2	NM_172107.4(KCNQ2):c.1217+1G>T	noncoding	Pathogenic
20	63428416	G	A	G63428416A	KCNQ2	NM_172107.4(KCNQ2):c.1168C>T:p.Gln390Ter	coding	Pathogenic/Likely_pathogenic
20	63428478	C	G	C63428478G	KCNQ2	NM_172107.4(KCNQ2):c.1149-43G>C	noncoding	Benign
20	63428596	G	A	G63428596A	KCNQ2	NM_172107.4(KCNQ2):c.1149-161C>T	noncoding	Benign
20	63431530	G	A	G63431530A	KCNQ2	NM_172107.4(KCNQ2):c.1119-161C>T	noncoding	Benign
20	63431604	C	T	C63431604T	KCNQ2	NM_172107.4(KCNQ2):c.1119-235G>A	noncoding	Benign
20	63433838	G	C	G63433838C	KCNQ2	NM_172107.4(KCNQ2):c.1089C>G:p.Tyr363Ter	coding	Pathogenic/Likely_pathogenic
20	63433838	G	T	G63433838T	KCNQ2	NM_172107.4(KCNQ2):c.1089C>A:p.Tyr363Ter	coding	Pathogenic
20	63433848	C	T	C63433848T	KCNQ2	NM_172107.4(KCNQ2):c.1079G>A:p.Trp360Ter	coding	Pathogenic
20	63433860	A	T	A63433860T	KCNQ2	NM_172107.4(KCNQ2):c.1067T>A:p.Leu356Gln	coding	Pathogenic
20	63433863	T	C	T63433863C	KCNQ2	NM_172107.4(KCNQ2):c.1064A>G:p.Asp355Gly	coding	Pathogenic
20	63433869	C	T	C63433869T	KCNQ2	NM_172107.4(KCNQ2):c.1058G>A:p.Arg353His	coding	Pathogenic/Likely_pathogenic
20	63433885	C	T	C63433885T	KCNQ2	NM_172107.4(KCNQ2):c.1042G>A:p.Ala348Thr	coding	Pathogenic
20	63433949	G	A	G63433949A	KCNQ2	NM_172107.4(KCNQ2):c.1024-46C>T	noncoding	Benign
20	63438625	C	G	C63438625G	KCNQ2	NM_172107.4(KCNQ2):c.1023G>C:p.Gln341His	coding	Pathogenic
20	63438699	C	T	C63438699T	KCNQ2	NM_172107.4(KCNQ2):c.949G>A:p.Ala317Thr	coding	Pathogenic/Likely_pathogenic
20	63439617	G	C	G63439617C	KCNQ2	NM_172107.4(KCNQ2):c.908C>G:p.Ser303Cys	coding	Pathogenic
20	63439647	A	G	A63439647G	KCNQ2	NM_172107.4(KCNQ2):c.878T>C:p.Leu293Pro	coding	Pathogenic
20	63439672	G	A	G63439672A	KCNQ2	NM_172107.4(KCNQ2):c.853C>T:p.Pro285Ser	coding	Pathogenic/Likely_pathogenic
20	63439689	C	T	C63439689T	KCNQ2	NM_172107.4(KCNQ2):c.836G>A:p.Gly279Asp	coding	Pathogenic/Likely_pathogenic
20	63439692	A	G	A63439692G	KCNQ2	NM_172107.4(KCNQ2):c.833T>C:p.Ile278Thr	coding	Pathogenic/Likely_pathogenic
20	63442375	G	A	G63442375A	KCNQ2	NM_172107.4(KCNQ2):c.816+31C>T	noncoding	Benign
20	63442405	C	A	C63442405A	KCNQ2	NM_172107.4(KCNQ2):c.816+1G>T	noncoding	Pathogenic
20	63442420	G	A	G63442420A	KCNQ2	NM_172107.4(KCNQ2):c.802C>T:p.Leu268Phe	coding	Pathogenic/Likely_pathogenic
20	63442430	G	C	G63442430C	KCNQ2	NM_172107.4(KCNQ2):c.792C>G:p.Tyr264Ter	coding	Pathogenic
20	63442430	G	T	G63442430T	KCNQ2	NM_172107.4(KCNQ2):c.792C>A:p.Tyr264Ter	coding	Pathogenic
20	63442455	C	A	C63442455A	KCNQ2	NM_172107.4(KCNQ2):c.767G>T:p.Gly256Val	coding	Pathogenic
20	63442461	T	G	T63442461G	KCNQ2	NM_172107.4(KCNQ2):c.761A>C:p.Glu254Ala	coding	Pathogenic
20	63442469	G	C	G63442469C	KCNQ2	NM_172107.4(KCNQ2):c.753C>G:p.Tyr251Ter	coding	Pathogenic
20	63442488	A	G	A63442488G	KCNQ2	NM_172107.4(KCNQ2):c.734T>C:p.Leu245Pro	coding	Pathogenic
20	63442500	A	G	A63442500G	KCNQ2	NM_172107.4(KCNQ2):c.722T>C:p.Leu241Pro	coding	Pathogenic
20	63444663	C	A	C63444663A	KCNQ2	NM_172107.4(KCNQ2):c.686G>T:p.Ser229Ile	coding	Pathogenic
20	63444696	C	T	C63444696T	KCNQ2	NM_172107.4(KCNQ2):c.653G>A:p.Trp218Ter	coding	Pathogenic
20	63444697	A	T	A63444697T	KCNQ2	NM_172107.4(KCNQ2):c.652T>A:p.Trp218Arg	coding	Pathogenic
20	63444702	C	A	C63444702A	KCNQ2	NM_172107.4(KCNQ2):c.647G>T:p.Gly216Val	coding	Pathogenic
20	63444708	C	T	C63444708T	KCNQ2	NM_172107.4(KCNQ2):c.641G>A:p.Arg214Gln	coding	Pathogenic
20	63444732	A	C	A63444732C	KCNQ2	NM_172107.4(KCNQ2):c.617T>G:p.Leu206Arg	coding	Pathogenic
20	63444985	G	A	G63444985A	KCNQ2	NM_172107.4(KCNQ2):c.515-151C>T	noncoding	Benign
20	63444998	G	A	G63444998A	KCNQ2	NM_172107.4(KCNQ2):c.515-164C>T	noncoding	Benign
20	63445315	C	T	C63445315T	KCNQ2	NM_172107.4(KCNQ2):c.437G>A:p.Trp146Ter	coding	Pathogenic
20	63445338	G	A	G63445338A	KCNQ2	NM_172107.4(KCNQ2):c.414C>T:p.Gly138=	coding	Benign/Likely_benign
20	63446754	T	C	T63446754C	KCNQ2	NM_172107.4(KCNQ2):c.380A>G:p.Tyr127Cys	coding	Pathogenic/Likely_pathogenic
20	63446780	A	C	A63446780C	KCNQ2	NM_172107.4(KCNQ2):c.354T>G:p.Tyr118Ter	coding	Pathogenic
20	63446819	G	A	G63446819A	KCNQ2	NM_172107.4(KCNQ2):c.315C>T:p.Ser105=	coding	Benign/Likely_benign
20	63446826	A	T	A63446826T	KCNQ2	NM_172107.4(KCNQ2):c.308T>A:p.Val103Asp	coding	Pathogenic
20	63447007	G	A	G63447007A	KCNQ2	NM_172107.4(KCNQ2):c.297-170C>T	noncoding	Benign
20	63459119	G	A	G63459119A	KCNQ2	NM_172107.4(KCNQ2):c.297-12282C>T	noncoding	Benign
20	63472179	G	T	G63472179T	KCNQ2	NM_172107.4(KCNQ2):c.285C>A:p.Tyr95Ter	coding	Pathogenic/Likely_pathogenic
20	63472461	C	T	C63472461T	KCNQ2	NM_172107.4(KCNQ2):c.3G>A:p.Met1Ile	coding	Pathogenic
20	63472551	C	A	C63472551A	KCNQ2	NM_172107.4(KCNQ2):c.-88G>T	noncoding	Benign
20	63488351	C	T	C63488351T	EEF1A2	NM_001958.5(EEF1A2):c.1339G>A:p.Gly447Ser	coding	Benign
20	63488386	A	G	A63488386G	EEF1A2	NM_001958.5(EEF1A2):c.1304T>C:p.Val435Ala	coding	Pathogenic
20	63488395	G	A	G63488395A	EEF1A2	NM_001958.5(EEF1A2):c.1295C>T:p.Thr432Met	coding	Pathogenic/Likely_pathogenic
20	63488415	G	T	G63488415T	EEF1A2	NM_001958.5(EEF1A2):c.1275C>A:p.Ala425=	coding	Benign
20	63488460	G	A	G63488460A	EEF1A2	NM_001958.5(EEF1A2):c.1265-35C>T	noncoding	Benign
20	63488900	C	T	C63488900T	EEF1A2	NM_001958.5(EEF1A2):c.1264+18G>A	noncoding	Benign
20	63489182	G	A	G63489182A	EEF1A2	NM_001958.5(EEF1A2):c.1030-30C>T	noncoding	Benign
20	63489216	G	A	G63489216A	EEF1A2	NM_001958.5(EEF1A2):c.1030-64C>T	noncoding	Benign
20	63490475	C	G	C63490475G	EEF1A2	NM_001958.5(EEF1A2):c.1029+4G>C	noncoding	Benign/Likely_benign
20	63490719	G	A	G63490719A	EEF1A2	NM_001958.5(EEF1A2):c.789C>T:p.Pro263=	coding	Benign/Likely_benign
20	63493124	C	T	C63493124T	EEF1A2	NM_001958.5(EEF1A2):c.772+13G>A	noncoding	Benign/Likely_benign
20	63493183	C	T	C63493183T	EEF1A2	NM_001958.5(EEF1A2):c.726G>A:p.Thr242=	coding	Benign/Likely_benign
20	63493234	G	A	G63493234A	EEF1A2	NM_001958.5(EEF1A2):c.675C>T:p.Gly225=	coding	Benign
20	63495069	G	A	G63495069A	EEF1A2	NM_001958.5(EEF1A2):c.357C>T:p.Gly119=	coding	Benign/Likely_benign
20	63495075	C	T	C63495075T	EEF1A2	NM_001958.5(EEF1A2):c.351G>A:p.Ala117=	coding	Benign/Likely_benign
20	63495134	C	T	C63495134T	EEF1A2	NM_001958.5(EEF1A2):c.325-33G>A	noncoding	Benign
20	63495906	C	T	C63495906T	EEF1A2	NM_001958.5(EEF1A2):c.274G>A:p.Ala92Thr	coding	Pathogenic
20	63496030	C	A	C63496030A	EEF1A2	NM_001958.5(EEF1A2):c.150G>T:p.Gly50=	coding	Benign
20	63496058	C	T	C63496058T	EEF1A2	NM_001958.5(EEF1A2):c.145-23G>A	noncoding	Benign
20	63496073	G	A	G63496073A	EEF1A2	NM_001958.5(EEF1A2):c.145-38C>T	noncoding	Benign
20	63497542	G	A	G63497542A	EEF1A2	NM_001958.5(EEF1A2):c.144+78C>T	noncoding	Benign
20	63497692	C	T	C63497692T	EEF1A2	NM_001958.5(EEF1A2):c.72G>A:p.Thr24=	coding	Benign
20	63497734	G	A	G63497734A	EEF1A2	NM_001958.5(EEF1A2):c.30C>T:p.Ile10=	coding	Benign/Likely_benign
20	63498958	T	G	T63498958G	EEF1A2	NM_001958.5(EEF1A2):c.-72+100A>C	noncoding	Benign
20	63498998	G	A	G63498998A	EEF1A2	NM_001958.5(EEF1A2):c.-72+60C>T	noncoding	Benign
20	63499116	C	T	C63499116T	EEF1A2	Single_allele	noncoding	Benign
20	63659310	C	T	C63659310T	RTEL1	NM_001283009.2(RTEL1):c.-93C>T	noncoding	Benign
20	63659344	A	C	A63659344C	RTEL1	NM_001283009.2(RTEL1):c.-59A>C	noncoding	Benign
20	63659448	C	T	C63659448T	RTEL1	NM_001283009.2(RTEL1):c.46C>T:p.Gln16Ter	coding	Pathogenic
20	63659655	A	G	A63659655G	RTEL1	NM_001283009.2(RTEL1):c.102+151A>G	noncoding	Benign
20	63661056	T	C	T63661056C	RTEL1	NM_001283009.2(RTEL1):c.103-242T>C	noncoding	Benign
20	63661094	G	A	G63661094A	RTEL1	NM_001283009.2(RTEL1):c.103-204G>A	noncoding	Benign
20	63661511	C	T	C63661511T	RTEL1	NM_001283009.2(RTEL1):c.301+15C>T	noncoding	Benign
20	63661765	C	T	C63661765T	RTEL1	NM_001283009.2(RTEL1):c.302-85C>T	noncoding	Benign
20	63661919	A	G	A63661919G	RTEL1	NM_001283009.2(RTEL1):c.371A>G:p.Asn124Ser	coding	Benign
20	63661955	G	A	G63661955A	RTEL1	NM_001283009.2(RTEL1):c.395+12G>A	noncoding	Benign/Likely_benign
20	63662107	T	C	T63662107C	RTEL1	NM_001283009.2(RTEL1):c.395+164T>C	noncoding	Benign
20	63662175	C	T	C63662175T	RTEL1	NM_001283009.2(RTEL1):c.395+232C>T	noncoding	Benign
20	63662509	C	T	C63662509T	RTEL1	NM_001283009.2(RTEL1):c.396-37C>T	coding	Benign/Likely_benign
20	63662646	G	A	G63662646A	RTEL1	NM_001283009.2(RTEL1):c.477+19G>A	noncoding	Benign
20	63662662	C	T	C63662662T	RTEL1	NM_001283009.2(RTEL1):c.477+35C>T	noncoding	Benign
20	63662670	G	A	G63662670A	RTEL1	NM_001283009.2(RTEL1):c.477+43G>A	noncoding	Benign
20	63662709	G	A	G63662709A	RTEL1	NM_001283009.2(RTEL1):c.477+82G>A	noncoding	Benign
20	63662741	T	C	T63662741C	RTEL1	NM_001283009.2(RTEL1):c.478-88T>C	noncoding	Benign
20	63662805	C	T	C63662805T	RTEL1	NM_001283009.2(RTEL1):c.478-24C>T	noncoding	Benign
20	63663049	A	T	A63663049T	RTEL1	NM_001283009.2(RTEL1):c.538+160A>T	noncoding	Benign
20	63666047	T	C	T63666047C	RTEL1	NM_001283009.2(RTEL1):c.582T>C:p.Ile194=	coding	Benign
20	63666203	C	T	C63666203T	RTEL1	NM_001283009.2(RTEL1):c.614+124C>T	noncoding	Benign
20	63667320	C	G	C63667320G	RTEL1	NM_001283009.2(RTEL1):c.615-149C>G	noncoding	Benign
20	63667433	G	A	G63667433A	RTEL1	NM_001283009.2(RTEL1):c.615-36G>A	noncoding	Benign
20	63667503	C	T	C63667503T	RTEL1	NM_001283009.2(RTEL1):c.649C>T:p.Gln217Ter	coding	Pathogenic/Likely_pathogenic
20	63672269	T	G	T63672269G	RTEL1	NM_001283009.2(RTEL1):c.700-287T>G	noncoding	Benign
20	63672441	G	A	G63672441A	RTEL1	NM_001283009.2(RTEL1):c.700-115G>A	noncoding	Benign
20	63672450	G	T	G63672450T	RTEL1	NM_001283009.2(RTEL1):c.700-106G>T	noncoding	Benign
20	63672707	G	C	G63672707C	RTEL1	NM_001283009.2(RTEL1):c.765+86G>C	noncoding	Benign
20	63672708	G	T	G63672708T	RTEL1	NM_001283009.2(RTEL1):c.765+87G>T	noncoding	Benign
20	63672761	G	C	G63672761C	RTEL1	NM_001283009.2(RTEL1):c.765+140G>C	noncoding	Benign
20	63672825	G	C	G63672825C	RTEL1	NM_001283009.2(RTEL1):c.765+204G>C	noncoding	Benign
20	63678039	T	C	T63678039C	RTEL1	NM_001283009.2(RTEL1):c.920-106T>C	noncoding	Benign
20	63678486	A	G	A63678486G	RTEL1	NM_001283009.2(RTEL1):c.1037+140A>G	noncoding	Benign
20	63679610	C	T	C63679610T	RTEL1	NM_001283009.2(RTEL1):c.1038-239C>T	noncoding	Benign
20	63679745	G	A	G63679745A	RTEL1	NM_001283009.2(RTEL1):c.1038-104G>A	noncoding	Benign
20	63679775	T	G	T63679775G	RTEL1	NM_001283009.2(RTEL1):c.1038-74T>G	noncoding	Benign
20	63679776	T	C	T63679776C	RTEL1	NM_001283009.2(RTEL1):c.1038-73T>C	noncoding	Benign
20	63680024	G	A	G63680024A	RTEL1	NM_001283009.2(RTEL1):c.1135+78G>A	noncoding	Benign
20	63680946	T	C	T63680946C	RTEL1	NM_001283009.2(RTEL1):c.1191+227T>C	noncoding	Benign
20	63680985	G	T	G63680985T	RTEL1	NM_001283009.2(RTEL1):c.1191+266G>T	noncoding	Benign
20	63685277	C	T	C63685277T	RTEL1	NM_001283009.2(RTEL1):c.1192-246C>T	noncoding	Benign
20	63685281	T	G	T63685281G	RTEL1	NM_001283009.2(RTEL1):c.1192-242T>G	noncoding	Benign
20	63685481	G	T	G63685481T	RTEL1	NM_001283009.2(RTEL1):c.1192-42G>T	noncoding	Benign
20	63685594	T	A	T63685594A	RTEL1	NM_001283009.2(RTEL1):c.1263T>A:p.Tyr421Ter	coding	Pathogenic
20	63685774	G	A	G63685774A	RTEL1	NM_001283009.2(RTEL1):c.1267-17G>A	noncoding	Benign
20	63685892	C	T	C63685892T	RTEL1	NM_001283009.2(RTEL1):c.1348+20C>T	noncoding	Benign
20	63687503	G	C	G63687503C	RTEL1	NM_001283009.2(RTEL1):c.1349-135G>C	noncoding	Benign
20	63687621	C	T	C63687621T	RTEL1	NM_001283009.2(RTEL1):c.1349-17C>T	noncoding	Benign
20	63687788	C	T	C63687788T	RTEL1	NM_001283009.2(RTEL1):c.1481+18C>T	noncoding	Benign
20	63688069	G	A	G63688069A	RTEL1	NM_001283009.2(RTEL1):c.1595+19G>A	noncoding	Benign
20	63688111	T	C	T63688111C	RTEL1	NM_001283009.2(RTEL1):c.1596-28T>C	noncoding	Benign
20	63688146	G	T	G63688146T	RTEL1	NM_001283009.2(RTEL1):c.1603G>T:p.Glu535Ter	coding	Pathogenic
20	63688208	C	G	C63688208G	RTEL1	NM_001283009.2(RTEL1):c.1636+29C>G	noncoding	Benign
20	63688251	A	C	A63688251C	RTEL1	NM_001283009.2(RTEL1):c.1637-50A>C	noncoding	Benign
20	63688619	C	T	C63688619T	RTEL1	NM_001283009.2(RTEL1):c.1800+14C>T	noncoding	Benign/Likely_benign
20	63688889	G	A	G63688889A	RTEL1	NM_001283009.2(RTEL1):c.1801-166G>A	noncoding	Benign
20	63689321	C	T	C63689321T	RTEL1	NM_001283009.2(RTEL1):c.1879-181C>T	noncoding	Benign
20	63689720	C	T	C63689720T	RTEL1	NM_001283009.2(RTEL1):c.2026-30C>T	noncoding	Benign
20	63690172	C	T	C63690172T	RTEL1	NM_001283009.2(RTEL1):c.2227C>T:p.Arg743Ter	coding	Pathogenic/Likely_pathogenic
20	63690184	C	T	C63690184T	RTEL1	NM_001283009.2(RTEL1):c.2239C>T:p.Gln747Ter	coding	Pathogenic
20	63690205	C	T	C63690205T	RTEL1	NM_001283009.2(RTEL1):c.2260C>T:p.Arg754Ter	coding	Pathogenic/Likely_pathogenic
20	63690945	C	T	C63690945T	RTEL1	NM_001283009.2(RTEL1):c.2554C>T:p.Gln852Ter	coding	Pathogenic
20	63691006	C	T	C63691006T	RTEL1	NM_001283009.2(RTEL1):c.2556+59C>T	noncoding	Benign
20	63691543	C	T	C63691543T	RTEL1	NM_001283009.2(RTEL1):c.2557-199C>T	noncoding	Benign
20	63691653	G	C	G63691653C	RTEL1	NM_001283009.2(RTEL1):c.2557-89G>C	noncoding	Benign
20	63692613	C	T	C63692613T	RTEL1	NM_001283009.2(RTEL1):c.2653-192C>T	noncoding	Benign
20	63692654	T	C	T63692654C	RTEL1	NM_001283009.2(RTEL1):c.2653-151T>C	noncoding	Benign
20	63692787	C	T	C63692787T	RTEL1	NM_001283009.2(RTEL1):c.2653-18C>T	noncoding	Benign
20	63692805	G	T	G63692805T	RTEL1	NM_001283009.2(RTEL1):c.2653G>T:p.Glu885Ter	coding	Pathogenic
20	63692936	C	T	C63692936T	RTEL1	NM_001283009.2(RTEL1):c.2784C>T:p.Phe928=	coding	Benign
20	63693051	C	T	C63693051T	RTEL1	NM_001283009.2(RTEL1):c.2851+48C>T	noncoding	Benign
20	63693126	C	T	C63693126T	RTEL1	NM_001283009.2(RTEL1):c.2852-17C>T	noncoding	Benign
20	63693127	G	A	G63693127A	RTEL1	NM_001283009.2(RTEL1):c.2852-16G>A	noncoding	Benign/Likely_benign
20	63693206	C	T	C63693206T	RTEL1	NM_001283009.2(RTEL1):c.2915C>T:p.Thr972Ile	coding	Benign/Likely_benign
20	63693320	C	T	C63693320T	RTEL1	NM_001283009.2(RTEL1):c.2992+37C>T	noncoding	Benign
20	63694422	C	T	C63694422T	RTEL1	NM_001283009.2(RTEL1):c.3043C>T:p.Gln1015Ter	coding	Pathogenic
20	63694428	G	A	G63694428A	RTEL1	NM_001283009.2(RTEL1):c.3049G>A:p.Asp1017Asn	coding	Benign/Likely_benign
20	63694437	G	T	G63694437T	RTEL1	NM_001283009.2(RTEL1):c.3058G>T:p.Glu1020Ter	coding	Pathogenic
20	63694489	G	C	G63694489C	RTEL1	NM_001283009.2(RTEL1):c.3109+1G>C	coding	Pathogenic
20	63694724	T	C	T63694724C	RTEL1	NM_001283009.2(RTEL1):c.3110-17T>C	noncoding	Benign/Likely_benign
20	63694755	C	T	C63694755T	RTEL1	NM_001283009.2(RTEL1):c.3124C>T:p.Gln1042Ter	coding	Pathogenic
20	63694761	C	T	C63694761T	RTEL1	NM_001283009.2(RTEL1):c.3130C>T:p.Gln1044Ter	coding	Pathogenic/Likely_pathogenic
20	63695236	T	C	T63695236C	RTEL1	NM_001283009.2(RTEL1):c.3499+15T>C	noncoding	Benign
20	63695594	C	T	C63695594T	RTEL1	NM_001283009.2(RTEL1):c.3766C>T:p.Gln1256Ter	coding	Pathogenic
20	63695615	C	T	C63695615T	RTEL1	NM_001283009.2(RTEL1):c.3787C>T:p.Gln1263Ter	coding	Pathogenic
20	63695846	A	G	A63695846G	RTEL1	NM_001283009.2(RTEL1):c.3891A>G:p.Pro1297=	coding	Benign
20	63696914	C	T	C63696914T	TNFRSF6B	NM_003823.4(TNFRSF6B):c.147C>T:p.Cys49=	coding	Benign
20	63697019	C	T	C63697019T	TNFRSF6B	NM_003823.4(TNFRSF6B):c.252C>T:p.Tyr84=	coding	Benign
20	63697100	T	C	T63697100C	TNFRSF6B	NM_003823.4(TNFRSF6B):c.333T>C:p.Arg111=	coding	Benign
20	63697127	C	T	C63697127T	TNFRSF6B	NM_003823.4(TNFRSF6B):c.360C>T:p.Phe120=	coding	Benign
20	63697130	G	A	G63697130A	TNFRSF6B	NM_003823.4(TNFRSF6B):c.363G>A:p.Ala121=	coding	Benign
20	63697154	C	T	C63697154T	TNFRSF6B	NM_003823.4(TNFRSF6B):c.387C>T:p.His129=	coding	Benign
20	63697319	T	G	T63697319G	TNFRSF6B	NM_003823.4(TNFRSF6B):c.425-9T>G	noncoding	Benign
20	63697389	C	T	C63697389T	TNFRSF6B	NM_003823.4(TNFRSF6B):c.486C>T:p.Ser162=	coding	Benign
20	63697476	C	G	C63697476G	TNFRSF6B	NM_003823.4(TNFRSF6B):c.573C>G:p.Thr191=	coding	Benign
20	63697491	C	T	C63697491T	TNFRSF6B	NM_003823.4(TNFRSF6B):c.588C>T:p.Cys196=	coding	Benign
20	63698302	C	T	C63698302T	TNFRSF6B	NM_003823.4(TNFRSF6B):c.642C>T:p.Ala214=	coding	Benign
20	63698416	C	T	C63698416T	TNFRSF6B	NM_003823.4(TNFRSF6B):c.756C>T:p.Ala252=	coding	Benign
20	63895366	G	A	G63895366A	DNAJC5	NM_025219.3(DNAJC5):c.-12+43G>A	noncoding	Benign
20	63929155	C	T	C63929155T	DNAJC5	NM_025219.3(DNAJC5):c.108-157C>T	noncoding	Benign
20	63929765	C	T	C63929765T	DNAJC5	NM_025219.3(DNAJC5):c.321+240C>T	noncoding	Benign
20	63930876	T	G	T63930876G	DNAJC5	NM_025219.3(DNAJC5):c.347T>G:p.Leu116Arg	coding	Pathogenic
20	63931448	G	A	G63931448A	DNAJC5	NM_025219.3(DNAJC5):c.494-17G>A	noncoding	Benign
20	63962894	G	A	G63962894A	ZNF512B	NM_020713.3(ZNF512B):c.1969-113C>T	noncoding	Benign
20	63983032	G	C	G63983032C	PRPF6	NM_012469.4(PRPF6):c.72-15G>C	noncoding	Benign
20	63983143	T	C	T63983143C	PRPF6	NM_012469.4(PRPF6):c.168T>C:p.Val56=	coding	Benign
20	63983235	C	T	C63983235T	PRPF6	NM_012469.4(PRPF6):c.240+20C>T	noncoding	Benign
20	63984888	C	T	C63984888T	PRPF6	NM_012469.4(PRPF6):c.241-19C>T	noncoding	Benign
20	63994991	C	T	C63994991T	PRPF6	NM_012469.4(PRPF6):c.514C>T:p.Arg172Trp	coding	Pathogenic/Likely_pathogenic
20	63995108	A	T	A63995108T	PRPF6	NM_012469.4(PRPF6):c.615+16A>T	noncoding	Benign
20	63999062	T	C	T63999062C	PRPF6	NM_012469.4(PRPF6):c.789T>C:p.Ser263=	coding	Benign
20	64001063	C	T	C64001063T	PRPF6	NM_012469.4(PRPF6):c.1024-14C>T	noncoding	Benign
20	64001252	C	T	C64001252T	PRPF6	NM_012469.4(PRPF6):c.1186+13C>T	noncoding	Benign/Likely_benign
20	64010184	G	T	G64010184T	PRPF6	NM_012469.4(PRPF6):c.1187-16G>T	noncoding	Benign
20	64011268	G	A	G64011268A	PRPF6	NM_012469.4(PRPF6):c.1306-17G>A	noncoding	Benign
20	64016864	C	A	C64016864A	PRPF6	NM_012469.4(PRPF6):c.1647+19C>A	noncoding	Benign
20	64022804	C	T	C64022804T	PRPF6	NM_012469.4(PRPF6):c.1695C>T:p.Tyr565=	coding	Benign
20	64024547	T	A	T64024547A	PRPF6	NM_012469.4(PRPF6):c.1770-8T>A	noncoding	Benign
20	64025924	G	A	G64025924A	PRPF6	NM_012469.4(PRPF6):c.1909-15G>A	noncoding	Benign
20	64025941	C	G	C64025941G	PRPF6	NM_012469.4(PRPF6):c.1911C>G:p.Ala637=	coding	Benign
20	64026023	C	T	C64026023T	PRPF6	NM_012469.4(PRPF6):c.1993C>T:p.Leu665=	coding	Benign
20	64027650	G	T	G64027650T	PRPF6	NM_012469.4(PRPF6):c.2253G>T:p.Arg751=	coding	Benign
20	64028462	G	A	G64028462A	PRPF6	NM_012469.4(PRPF6):c.2340-16G>A	noncoding	Benign
20	64029441	T	C	T64029441C	PRPF6	NM_012469.4(PRPF6):c.2496T>C:p.Asp832=	coding	Benign/Likely_benign
20	64032056	C	T	C64032056T	PRPF6	NM_012469.4(PRPF6):c.2673+12C>T	noncoding	Benign
20	64032063	C	T	C64032063T	PRPF6	NM_012469.4(PRPF6):c.2673+19C>T	noncoding	Benign
20	64032821	G	A	G64032821A	PRPF6	NM_012469.4(PRPF6):c.2674-20G>A	noncoding	Benign
20	64048039	C	T	C64048039T	SOX18	NM_018419.3(SOX18):c.*127G>A	noncoding	Benign
20	64048084	A	G	A64048084G	SOX18	NM_018419.3(SOX18):c.*82T>C	noncoding	Benign
20	64049808	C	T	C64049808T	SOX18	Single_allele	noncoding	Benign
20	64205029	C	T	C64205029T	MYT1	NM_004535.3(MYT1):c.87-6C>T	noncoding	Benign
20	64219005	C	T	C64219005T	MYT1	NM_004535.3(MYT1):c.1941C>T:p.Leu647=	coding	Benign
21	14109044	G	T	G14109044T	LIPI	NM_001302998.2(LIPI):c.1332C>A:p.Asp444Glu	coding	Benign
21	14144627	C	T	C14144627T	LIPI	NM_001302998.2(LIPI):c.1291G>A:p.Glu431Lys	coding	Benign
21	14152600	C	T	C14152600T	LIPI	NM_001302998.2(LIPI):c.1091G>A:p.Gly364Glu	coding	Benign
21	14152629	C	T	C14152629T	LIPI	NM_001302998.2(LIPI):c.1062G>A:p.Ser354=	coding	Benign
21	14163406	G	A	G14163406A	LIPI	NM_001302998.2(LIPI):c.1006+13C>T	noncoding	Benign
21	14165406	A	G	A14165406G	LIPI	NM_001302998.2(LIPI):c.734-16T>C	noncoding	Benign
21	14181745	C	T	C14181745T	LIPI	NM_001302998.2(LIPI):c.643+13G>A	noncoding	Benign
21	14185947	A	C	A14185947C	LIPI	NM_001302998.2(LIPI):c.541+14T>G	noncoding	Benign
21	14186025	G	A	G14186025A	LIPI	NM_001302998.2(LIPI):c.477C>T:p.Ser159=	coding	Benign
21	14189114	T	C	T14189114C	LIPI	NM_001302998.2(LIPI):c.352A>G:p.Thr118Ala	coding	Benign
21	14189302	C	T	C14189302T	LIPI	NM_001302998.2(LIPI):c.164G>A:p.Cys55Tyr	coding	Benign
21	14206875	G	C	G14206875C	LIPI	NM_001302998.2(LIPI):c.46+3925C>G	coding	Benign
21	14965785	G	A	G14965785A	NRIP1	NM_003489.4(NRIP1):c.2408C>T:p.Ser803Leu	coding	Benign
21	14966851	G	C	G14966851C	NRIP1	NM_003489.4(NRIP1):c.1342C>G:p.Arg448Gly	coding	Benign
21	14967027	A	G	A14967027G	NRIP1	NM_003489.4(NRIP1):c.1166T>C:p.Ile389Thr	coding	Benign
21	14967249	T	A	T14967249A	NRIP1	NM_003489.4(NRIP1):c.944A>T:p.Tyr315Phe	coding	Benign
21	14967531	T	C	T14967531C	NRIP1	NM_003489.4(NRIP1):c.662A>G:p.His221Arg	coding	Benign
21	14967968	C	T	C14967968T	NRIP1	NM_003489.4(NRIP1):c.225G>A:p.Gly75=	coding	Benign
21	14992435	T	G	T14992435G	NRIP1	NM_003489.4(NRIP1):c.-335+21909A>C	noncoding	Benign
21	18313088	A	G	A18313088G	TMPRSS15	NM_002772.3(TMPRSS15):c.2033-11T>C	noncoding	Benign
21	25639146	T	A	T25639146A	JAM2	Single_allele	noncoding	Benign
21	25639776	C	A	C25639776A	JAM2	NM_021219.4(JAM2):c.-46C>A	noncoding	Benign
21	25639842	C	A	C25639842A	JAM2	NM_021219.4(JAM2):c.21C>A:p.His7Gln	coding	Benign
21	25683787	C	A	C25683787A	JAM2	NM_021219.4(JAM2):c.68-96C>A	noncoding	Benign
21	25683938	A	G	A25683938G	JAM2	NM_021219.4(JAM2):c.123A>G:p.Val41=	coding	Benign
21	25693607	A	G	A25693607G	JAM2	NM_021219.4(JAM2):c.242-149A>G	noncoding	Benign
21	25702396	C	T	C25702396T	JAM2	NM_021219.4(JAM2):c.697+127C>T	noncoding	Benign
21	25705958	G	A	G25705958A	JAM2	NM_021219.4(JAM2):c.698-21G>A	noncoding	Benign
21	25706116	T	A	T25706116A	JAM2	NM_021219.4(JAM2):c.805+30T>A	noncoding	Benign
21	25709413	T	G	T25709413G	JAM2	NM_021219.4(JAM2):c.806-21T>G	noncoding	Benign
21	25712374	A	C	A25712374C	JAM2	NM_021219.4(JAM2):c.856A>C:p.Ser286Arg	coding	Benign
21	25714538	C	T	C25714538T	JAM2	NM_021219.4(JAM2):c.865-102C>T	coding	Benign
21	25714604	C	A	C25714604A	JAM2	NM_021219.4(JAM2):c.865-36C>A	noncoding	Benign
21	25714732	T	C	T25714732C	JAM2	NM_021219.4(JAM2):c.*60T>C	noncoding	Benign
21	25714853	C	T	C25714853T	JAM2	NM_021219.4(JAM2):c.*181C>T	noncoding	Benign
21	25881883	C	T	C25881883T	APP	NM_000484.4(APP):c.2212-112G>A	noncoding	Benign
21	25881907	C	T	C25881907T	APP	NM_000484.4(APP):c.2212-136G>A	noncoding	Benign
21	25881968	C	G	C25881968G	APP	NM_000484.4(APP):c.2212-197G>C	noncoding	Benign
21	25881987	G	A	G25881987A	APP	NM_000484.4(APP):c.2212-216C>T	noncoding	Benign
21	25882009	C	A	C25882009A	APP	NM_000484.4(APP):c.2212-238G>T	noncoding	Benign
21	25897937	T	C	T25897937C	APP	NM_000484.4(APP):c.1964-264A>G	noncoding	Benign
21	25905237	A	T	A25905237T	APP	NM_000484.4(APP):c.1910-160T>A	noncoding	Benign
21	25905294	C	T	C25905294T	APP	NM_000484.4(APP):c.1910-217G>A	noncoding	Benign
21	25912081	G	A	G25912081A	APP	NM_000484.4(APP):c.1688-119C>T	noncoding	Benign
21	25954327	C	T	C25954327T	APP	NM_000484.4(APP):c.1687+263G>A	noncoding	Benign
21	25954442	T	A	T25954442A	APP	NM_000484.4(APP):c.1687+148A>T	noncoding	Benign
21	25954496	T	A	T25954496A	APP	NM_000484.4(APP):c.1687+94A>T	noncoding	Benign
21	25954545	G	A	G25954545A	APP	NM_000484.4(APP):c.1687+45C>T	noncoding	Benign
21	25954786	G	A	G25954786A	APP	NM_000484.4(APP):c.1588-97C>T	noncoding	Benign
21	25954964	G	A	G25954964A	APP	NM_000484.4(APP):c.1588-275C>T	noncoding	Benign
21	25955548	G	C	G25955548C	APP	NM_000484.4(APP):c.1587+79C>G	noncoding	Benign
21	25955604	A	G	A25955604G	APP	NM_000484.4(APP):c.1587+23T>C	noncoding	Benign
21	25955861	T	C	T25955861C	APP	NM_000484.4(APP):c.1459-106A>G	noncoding	Benign
21	25955921	T	C	T25955921C	APP	NM_000484.4(APP):c.1459-166A>G	noncoding	Benign
21	25975051	C	T	C25975051T	APP	NM_000484.4(APP):c.1458+19G>A	noncoding	Benign
21	25975052	G	A	G25975052A	APP	NM_000484.4(APP):c.1458+18C>T	noncoding	Benign
21	25976039	A	T	A25976039T	APP	NM_000484.4(APP):c.1225-11T>A	noncoding	Benign
21	25976059	A	G	A25976059G	APP	NM_000484.4(APP):c.1225-31T>C	noncoding	Benign
21	25976134	A	G	A25976134G	APP	NM_000484.4(APP):c.1225-106T>C	noncoding	Benign
21	25976147	T	G	T25976147G	APP	NM_000484.4(APP):c.1225-119A>C	noncoding	Benign
21	25976291	C	T	C25976291T	APP	NM_000484.4(APP):c.1225-263G>A	noncoding	Benign
21	25982324	G	A	G25982324A	APP	NM_000484.4(APP):c.1224+20C>T	noncoding	Benign
21	25982328	G	T	G25982328T	APP	NM_000484.4(APP):c.1224+16C>A	noncoding	Benign
21	25982704	T	C	T25982704C	APP	NM_000484.4(APP):c.1091-227A>G	noncoding	Benign
21	25997094	T	C	T25997094C	APP	NM_000484.4(APP):c.1090+266A>G	noncoding	Benign
21	26000378	G	C	G26000378C	APP	NM_000484.4(APP):c.866-196C>G	noncoding	Benign
21	26021714	C	A	C26021714A	APP	NM_000484.4(APP):c.865+126G>T	noncoding	Benign
21	26021919	G	A	G26021919A	APP	NM_000484.4(APP):c.786C>T:p.Tyr262=	coding	Benign
21	26022049	A	G	A26022049G	APP	NM_000484.4(APP):c.663-7T>C	noncoding	Benign
21	26022152	A	G	A26022152G	APP	NM_000484.4(APP):c.663-110T>C	noncoding	Benign
21	26050815	C	T	C26050815T	APP	NM_000484.4(APP):c.662+185G>A	noncoding	Benign
21	26051231	A	T	A26051231T	APP	NM_000484.4(APP):c.469-38T>A	noncoding	Benign
21	26051245	G	T	G26051245T	APP	NM_000484.4(APP):c.469-52C>A	noncoding	Benign
21	26053007	C	T	C26053007T	APP	NM_000484.4(APP):c.468+229G>A	noncoding	Benign
21	26053185	G	A	G26053185A	APP	NM_000484.4(APP):c.468+51C>T	noncoding	Benign
21	26053543	G	C	G26053543C	APP	NM_000484.4(APP):c.356-195C>G	noncoding	Benign
21	26089747	G	A	G26089747A	APP	NM_000484.4(APP):c.355+196C>T	noncoding	Benign
21	26089927	C	T	C26089927T	APP	NM_000484.4(APP):c.355+16G>A	noncoding	Benign
21	26090072	C	T	C26090072T	APP	NM_000484.4(APP):c.226G>A:p.Val76Ile	coding	Benign/Likely_benign
21	26140003	T	C	T26140003C	APP	NM_000484.4(APP):c.58-27857A>G	noncoding	Benign
21	26140005	A	G	A26140005G	APP	NM_000484.4(APP):c.58-27859T>C	noncoding	Benign
21	26140010	A	G	A26140010G	APP	NM_000484.4(APP):c.58-27864T>C	noncoding	Benign
21	26140265	C	G	C26140265G	APP	NM_000484.4(APP):c.58-28119G>C	coding	Benign
21	26930036	A	G	A26930036G	ADAMTS5	NM_007038.5(ADAMTS5):c.2075T>C:p.Leu692Pro	coding	Benign
21	26932893	C	T	C26932893T	ADAMTS5	NM_007038.5(ADAMTS5):c.1841G>A:p.Arg614His	coding	Benign
21	31120504	G	T	G31120504T	TIAM1	NM_001353694.2(TIAM1):c.4640C>A:p.Ala1547Glu	coding	Pathogenic
21	31130242	G	A	G31130242A	TIAM1	NM_001353694.2(TIAM1):c.4016C>T:p.Ala1339Val	coding	Pathogenic
21	31252009	C	G	C31252009G	TIAM1	NM_001353694.2(TIAM1):c.1144G>C:p.Gly382Arg	coding	Pathogenic
21	31252170	C	A	C31252170A	TIAM1	NM_001353694.2(TIAM1):c.983G>T:p.Gly328Val	coding	Pathogenic
21	31659812	G	A	G31659812A	SOD1	NM_000454.5(SOD1):c.43G>A:p.Val15Met	coding	Pathogenic/Likely_pathogenic
21	31659819	G	C	G31659819C	SOD1	NM_000454.5(SOD1):c.50G>C:p.Gly17Ala	coding	Pathogenic/Likely_pathogenic
21	31659831	T	G	T31659831G	SOD1	NM_000454.5(SOD1):c.62T>G:p.Phe21Cys	coding	Pathogenic
21	31659860	G	A	G31659860A	SOD1	NM_000454.5(SOD1):c.72+19G>A	noncoding	Benign
21	31659974	C	T	C31659974T	SOD1	NM_000454.5(SOD1):c.72+133C>T	noncoding	Benign
21	31663650	G	C	G31663650C	SOD1	NM_000454.5(SOD1):c.73-140G>C	noncoding	Benign
21	31663782	T	C	T31663782C	SOD1	NM_000454.5(SOD1):c.73-8T>C	noncoding	Benign
21	31666429	T	C	T31666429C	SOD1	NM_000454.5(SOD1):c.170-20T>C	noncoding	Benign
21	31666508	G	T	G31666508T	SOD1	NM_000454.5(SOD1):c.229G>T:p.Asp77Tyr	coding	Pathogenic/Likely_pathogenic
21	31666524	A	C	A31666524C	SOD1	NM_000454.5(SOD1):c.239+6A>C	noncoding	Benign
21	31666761	A	G	A31666761G	SOD1	NM_000454.5(SOD1):c.239+243A>G	noncoding	Benign
21	31667007	A	G	A31667007G	SOD1	NM_000454.5(SOD1):c.240-251A>G	noncoding	Benign
21	31667691	T	G	T31667691G	SOD1	NM_000454.5(SOD1):c.357+316T>G	noncoding	Benign
21	31667849	C	T	C31667849T	SOD1	NM_000454.5(SOD1):c.357+474C>T	noncoding	Benign
21	31668058	C	T	C31668058T	SOD1	NM_000454.5(SOD1):c.358-413C>T	noncoding	Benign
21	31668556	G	A	G31668556A	SOD1	NM_000454.5(SOD1):c.443G>A:p.Gly148Asp	coding	Pathogenic/Likely_pathogenic
21	31668559	T	G	T31668559G	SOD1	NM_000454.5(SOD1):c.446T>G:p.Val149Gly	coding	Pathogenic/Likely_pathogenic
21	31668562	T	C	T31668562C	SOD1	NM_000454.5(SOD1):c.449T>C:p.Ile150Thr	coding	Pathogenic
21	31693357	G	A	G31693357A	SCAF4	NM_020706.2(SCAF4):c.1450C>T:p.Arg484Ter	coding	Pathogenic
21	31696110	T	C	T31696110C	SCAF4	NM_020706.2(SCAF4):c.1068+3A>G	noncoding	Pathogenic
21	32601798	T	A	T32601798A	CFAP298	NM_021254.4(CFAP298):c.*65A>T	noncoding	Benign
21	32602012	G	A	G32602012A	CFAP298	NM_021254.4(CFAP298):c.763-39C>T	noncoding	Benign
21	32602969	T	C	T32602969C	CFAP298	NM_021254.4(CFAP298):c.666+192A>G	noncoding	Benign
21	32603333	C	A	C32603333A	CFAP298	NM_021254.4(CFAP298):c.535-41G>T	noncoding	Benign
21	32603386	T	G	T32603386G	CFAP298	NM_021254.4(CFAP298):c.535-94A>C	noncoding	Benign
21	32604303	G	A	G32604303A	CFAP298	NM_021254.4(CFAP298):c.376-20C>T	noncoding	Benign
21	32607423	G	A	G32607423A	CFAP298	NM_021254.4(CFAP298):c.375+226C>T	noncoding	Benign
21	32607716	G	T	G32607716T	CFAP298	NM_021254.4(CFAP298):c.308C>A:p.Ala103Asp	coding	Pathogenic
21	32607732	G	C	G32607732C	CFAP298	NM_021254.4(CFAP298):c.308-16C>G	noncoding	Benign
21	32631115	C	T	C32631115T	SYNJ1	NM_203446.3(SYNJ1):c.*690G>A	coding	Benign/Likely_benign
21	32634607	T	G	T32634607G	SYNJ1	NM_203446.3(SYNJ1):c.*3+254A>C	noncoding	Benign
21	32638958	G	A	G32638958A	SYNJ1	NM_203446.3(SYNJ1):c.3865C>T:p.Arg1289Ter	coding	Pathogenic
21	32639661	G	C	G32639661C	SYNJ1	NM_203446.3(SYNJ1):c.3697+10C>G	noncoding	Benign
21	32641882	G	A	G32641882A	SYNJ1	NM_203446.3(SYNJ1):c.3588+14C>T	noncoding	Benign
21	32645547	T	A	T32645547A	SYNJ1	NM_203446.3(SYNJ1):c.3391+99A>T	noncoding	Benign
21	32646127	C	T	C32646127T	SYNJ1	NM_203446.3(SYNJ1):c.3247+266G>A	noncoding	Benign
21	32657471	A	G	A32657471G	SYNJ1	NM_203446.3(SYNJ1):c.2461+245T>C	noncoding	Benign
21	32657982	A	T	A32657982T	SYNJ1	NM_203446.3(SYNJ1):c.2305-110T>A	noncoding	Benign
21	32665803	T	A	T32665803A	SYNJ1	NM_203446.3(SYNJ1):c.2145+140A>T	noncoding	Benign
21	32666117	A	G	A32666117G	SYNJ1	NM_203446.3(SYNJ1):c.1971T>C:p.Thr657=	coding	Benign
21	32666673	A	G	A32666673G	SYNJ1	NM_203446.3(SYNJ1):c.1812-100T>C	noncoding	Benign
21	32676414	A	T	A32676414T	SYNJ1	NM_203446.3(SYNJ1):c.1511-59T>A	noncoding	Benign
21	32678632	A	T	A32678632T	SYNJ1	NM_203446.3(SYNJ1):c.1510+13T>A	noncoding	Benign
21	32681651	T	A	T32681651A	SYNJ1	NM_203446.3(SYNJ1):c.1201-3A>T	noncoding	Benign
21	32683983	A	G	A32683983G	SYNJ1	NM_203446.3(SYNJ1):c.1200+55T>C	noncoding	Benign
21	32684056	C	T	C32684056T	SYNJ1	NM_203446.3(SYNJ1):c.1182G>A:p.Gln394=	coding	Benign
21	32685865	T	C	T32685865C	SYNJ1	NM_203446.3(SYNJ1):c.1001A>G:p.Asp334Gly	coding	Benign
21	32686897	C	T	C32686897T	SYNJ1	NM_203446.3(SYNJ1):c.948+81G>A	noncoding	Benign
21	32694269	G	A	G32694269A	SYNJ1	NM_203446.3(SYNJ1):c.748C>T:p.Arg250Ter	coding	Pathogenic
21	32694322	A	G	A32694322G	SYNJ1	NM_203446.3(SYNJ1):c.706-11T>C	noncoding	Benign
21	32695131	G	A	G32695131A	SYNJ1	NM_203446.3(SYNJ1):c.631C>T:p.Arg211Ter	coding	Pathogenic
21	32700028	G	A	G32700028A	SYNJ1	NM_203446.3(SYNJ1):c.289C>T:p.Arg97Ter	coding	Pathogenic
21	32726907	C	A	C32726907A	SYNJ1	NM_203446.3(SYNJ1):c.-12G>T	coding	Pathogenic
21	32727818	G	A	G32727818A	SYNJ1	NM_203446.3(SYNJ1):c.-23+128C>T	noncoding	Benign
21	32727931	C	T	C32727931T	SYNJ1	NM_203446.3(SYNJ1):c.-23+15G>A	coding	Benign
21	33241945	T	C	T33241945C	IFNAR2	NM_001289125.3(IFNAR2):c.23T>C:p.Phe8Ser	coding	Benign
21	33241950	T	G	T33241950G	IFNAR2	NM_001289125.3(IFNAR2):c.28T>G:p.Phe10Val	coding	Benign
21	33248779	A	G	A33248779G	IFNAR2	NM_001289125.3(IFNAR2):c.465A>G:p.Pro155=	coding	Benign
21	33260588	C	A	C33260588A	IFNAR2	NM_001289125.3(IFNAR2):c.710-9C>A	noncoding	Benign
21	33260699	G	A	G33260699A	IFNAR2	NM_001289125.3(IFNAR2):c.812G>A:p.Cys271Tyr	coding	Benign
21	33262870	C	T	C33262870T	IFNAR2	NM_001289125.3(IFNAR2):c.918C>T:p.Tyr306=	coding	Benign
21	33263038	G	A	G33263038A	IFNAR2	NM_001289125.3(IFNAR2):c.1086G>A:p.Pro362=	coding	Benign
21	33263044	C	T	C33263044T	IFNAR2	NM_001289125.3(IFNAR2):c.1092C>T:p.Ser364=	coding	Benign
21	33263104	C	T	C33263104T	IFNAR2	NM_001289125.3(IFNAR2):c.1152C>T:p.Ser384=	coding	Benign
21	33263275	C	T	C33263275T	IFNAR2	NM_001289125.3(IFNAR2):c.1323C>T:p.Asp441=	coding	Benign
21	33263496	G	A	G33263496A	IFNAR2	NM_001289125.3(IFNAR2):c.1544G>A:p.Arg515Lys	coding	Benign
21	33268475	C	T	C33268475T	IL10RB	NM_000628.5(IL10RB):c.131C>T:p.Ala44Val	coding	Benign/Likely_benign
21	33268519	T	G	T33268519G	IL10RB	NM_000628.5(IL10RB):c.173+2T>G	noncoding	Pathogenic/Likely_pathogenic
21	33268536	T	C	T33268536C	IL10RB	NM_000628.5(IL10RB):c.173+19T>C	noncoding	Benign
21	33283206	G	A	G33283206A	IL10RB	NM_000628.5(IL10RB):c.611G>A:p.Trp204Ter	coding	Pathogenic/Likely_pathogenic
21	33283260	C	A	C33283260A	IL10RB	NM_000628.5(IL10RB):c.646+19C>A	noncoding	Benign
21	33343257	T	C	T33343257C	IFNAR1	NM_000629.3(IFNAR1):c.377-11T>C	noncoding	Benign
21	33343393	G	C	G33343393C	IFNAR1	NM_000629.3(IFNAR1):c.502G>C:p.Val168Leu	coding	Benign
21	33343395	T	C	T33343395C	IFNAR1	NM_000629.3(IFNAR1):c.504T>C:p.Val168=	coding	Benign
21	33343627	G	A	G33343627A	IFNAR1	NM_000629.3(IFNAR1):c.624G>A:p.Thr208=	coding	Benign
21	33349218	C	T	C33349218T	IFNAR1	NM_000629.3(IFNAR1):c.916C>T:p.Arg306Cys	coding	Benign
21	33349236	G	T	G33349236T	IFNAR1	NM_000629.3(IFNAR1):c.934G>T:p.Gly312Ter	coding	Pathogenic
21	33349476	C	T	C33349476T	IFNAR1	NM_000629.3(IFNAR1):c.1076C>T:p.Thr359Met	coding	Benign
21	33355333	A	G	A33355333G	IFNAR1	NM_000629.3(IFNAR1):c.1458A>G:p.Pro486=	coding	Benign
21	33355462	C	T	C33355462T	IFNAR1	NM_000629.3(IFNAR1):c.1587C>T:p.Ser529=	coding	Benign
21	33403128	A	C	A33403128C	IFNGR2	NM_005534.3(IFNGR2):c.-416A>C	noncoding	Benign
21	33403138	T	C	T33403138C	IFNGR2	NM_005534.3(IFNGR2):c.-406T>C	noncoding	Benign
21	33403846	T	G	T33403846G	IFNGR2	NM_005534.4(IFNGR2):c.73+230T>G	noncoding	Benign
21	33415005	A	G	A33415005G	IFNGR2	NM_005534.4(IFNGR2):c.191A>G:p.Gln64Arg	coding	Benign
21	33415331	C	A	C33415331A	IFNGR2	NM_005534.4(IFNGR2):c.206+311C>A	noncoding	Benign
21	33421399	C	T	C33421399T	IFNGR2	NM_005534.4(IFNGR2):c.207-81C>T	noncoding	Benign
21	33421504	C	T	C33421504T	IFNGR2	NM_005534.4(IFNGR2):c.231C>T:p.Ala77=	coding	Benign
21	33432659	T	C	T33432659C	IFNGR2	NM_005534.4(IFNGR2):c.722-55T>C	coding	Benign
21	33432890	C	T	C33432890T	IFNGR2	NM_005534.4(IFNGR2):c.879+19C>T	noncoding	Benign
21	33436742	T	A	T33436742A	IFNGR2	NM_005534.4(IFNGR2):c.880-86T>A	noncoding	Benign
21	33543018	C	G	C33543018G	SON	Single_allele	noncoding	Benign
21	33543019	G	C	G33543019C	SON	Single_allele	noncoding	Benign
21	33546193	C	T	C33546193T	SON	NM_138927.4(SON):c.78-20C>T	noncoding	Benign
21	33546212	G	A	G33546212A	SON	NM_138927.4(SON):c.78-1G>A	noncoding	Pathogenic
21	33549625	C	T	C33549625T	SON	NM_138927.4(SON):c.394C>T:p.Gln132Ter	coding	Pathogenic
21	33549811	A	G	A33549811G	SON	NM_138927.4(SON):c.580A>G:p.Met194Val	coding	Benign
21	33549867	A	G	A33549867G	SON	NM_138927.4(SON):c.636A>G:p.Ala212=	coding	Benign/Likely_benign
21	33550255	C	T	C33550255T	SON	NM_138927.4(SON):c.1024C>T:p.Gln342Ter	coding	Pathogenic
21	33550358	C	T	C33550358T	SON	NM_138927.4(SON):c.1127C>T:p.Ser376Leu	coding	Benign
21	33550621	G	A	G33550621A	SON	NM_138927.4(SON):c.1390G>A:p.Glu464Lys	coding	Benign
21	33550718	C	T	C33550718T	SON	NM_138927.4(SON):c.1487C>T:p.Ala496Val	coding	Benign
21	33551839	A	G	A33551839G	SON	NM_138927.4(SON):c.2608A>G:p.Thr870Ala	coding	Benign
21	33551937	T	C	T33551937C	SON	NM_138927.4(SON):c.2706T>C:p.Asp902=	coding	Benign
21	33552478	A	G	A33552478G	SON	NM_138927.4(SON):c.3247A>G:p.Met1083Val	coding	Benign
21	33552639	C	T	C33552639T	SON	NM_138927.4(SON):c.3408C>T:p.Tyr1136=	coding	Benign
21	33552816	G	A	G33552816A	SON	NM_138927.4(SON):c.3585G>A:p.Trp1195Ter	coding	Pathogenic
21	33552836	C	T	C33552836T	SON	NM_138927.4(SON):c.3605C>T:p.Ser1202Leu	coding	Benign
21	33552839	C	T	C33552839T	SON	NM_138927.4(SON):c.3608C>T:p.Pro1203Leu	coding	Benign
21	33552857	C	T	C33552857T	SON	NM_138927.4(SON):c.3626C>T:p.Ser1209Leu	coding	Benign
21	33552998	A	G	A33552998G	SON	NM_138927.4(SON):c.3767A>G:p.Glu1256Gly	coding	Benign
21	33553145	T	C	T33553145C	SON	NM_138927.4(SON):c.3914T>C:p.Met1305Thr	coding	Benign
21	33553383	G	A	G33553383A	SON	NM_138927.4(SON):c.4152G>A:p.Leu1384=	coding	Benign
21	33553475	C	T	C33553475T	SON	NM_138927.4(SON):c.4244C>T:p.Pro1415Leu	coding	Benign
21	33553711	C	T	C33553711T	SON	NM_138927.4(SON):c.4480C>T:p.Gln1494Ter	coding	Pathogenic
21	33553737	G	A	G33553737A	SON	NM_138927.4(SON):c.4506G>A:p.Met1502Ile	coding	Benign
21	33553843	A	C	A33553843C	SON	NM_138927.4(SON):c.4612A>C:p.Asn1538His	coding	Benign
21	33553954	C	T	C33553954T	SON	NM_138927.4(SON):c.4723C>T:p.Arg1575Cys	coding	Benign
21	33554109	T	C	T33554109C	SON	NM_138927.4(SON):c.4878T>C:p.Tyr1626=	coding	Benign
21	33554126	T	G	T33554126G	SON	NM_138927.4(SON):c.4895T>G:p.Leu1632Ter	coding	Pathogenic
21	33556949	T	G	T33556949G	SON	NM_138927.4(SON):c.6161-207T>G	noncoding	Benign
21	33557116	T	C	T33557116C	SON	NM_138927.4(SON):c.6161-40T>C	noncoding	Benign
21	33559629	T	C	T33559629C	SON	NM_138927.4(SON):c.6511T>C:p.Leu2171=	coding	Benign
21	33567084	A	G	A33567084G	SON	NM_138927.4(SON):c.6658-73A>G	noncoding	Benign
21	33567279	T	G	T33567279G	SON	NM_138927.4(SON):c.6768+12T>G	noncoding	Benign
21	33568757	G	A	G33568757A	SON	NM_138927.4(SON):c.6769-214G>A	noncoding	Benign
21	33568948	C	T	C33568948T	SON	NM_138927.4(SON):c.6769-23C>T	noncoding	Benign
21	33573415	T	C	T33573415C	SON	NM_138927.4(SON):c.6993T>C:p.Asn2331=	coding	Benign
21	33575550	A	C	A33575550C	SON	NM_138927.4(SON):c.7034-46A>C	noncoding	Benign
21	33578374	G	A	G33578374A	DONSON	NM_017613.4(DONSON):c.1634C>T:p.Pro545Leu	coding	Pathogenic
21	33579480	G	A	G33579480A	DONSON	NM_017613.4(DONSON):c.1433C>T:p.Pro478Leu	coding	Pathogenic
21	33579525	C	A	C33579525A	DONSON	NM_017613.4(DONSON):c.1388G>T:p.Gly463Val	coding	Benign
21	33579702	A	G	A33579702G	DONSON	NM_017613.4(DONSON):c.1351-140T>C	noncoding	Benign
21	33581328	G	A	G33581328A	DONSON	NM_017613.4(DONSON):c.1324C>T:p.Arg442Ter	coding	Pathogenic
21	33581850	G	A	G33581850A	DONSON	NM_017613.4(DONSON):c.1151+101C>T	noncoding	Benign
21	33581864	A	G	A33581864G	DONSON	NM_017613.4(DONSON):c.1151+87T>C	noncoding	Benign
21	33582249	A	G	A33582249G	DONSON	NM_017613.4(DONSON):c.965-3T>C	noncoding	Benign
21	33583575	G	A	G33583575A	DONSON	NM_017613.4(DONSON):c.877C>T:p.Arg293Ter	coding	Pathogenic
21	33583643	T	C	T33583643C	DONSON	NM_017613.4(DONSON):c.809A>G:p.Tyr270Cys	coding	Pathogenic
21	33584623	T	C	T33584623C	DONSON	NM_017613.4(DONSON):c.752A>G:p.Asp251Gly	coding	Benign
21	33584705	G	A	G33584705A	DONSON	NM_017613.4(DONSON):c.670C>T:p.Pro224Ser	coding	Pathogenic
21	33584739	A	G	A33584739G	DONSON	NM_017613.4(DONSON):c.636T>C:p.Cys212=	coding	Benign
21	33584744	G	A	G33584744A	DONSON	NM_017613.4(DONSON):c.631C>T:p.Arg211Cys	coding	Pathogenic
21	33584804	C	T	C33584804T	DONSON	NM_017613.4(DONSON):c.607-36G>A	noncoding	Pathogenic
21	33586090	A	G	A33586090G	DONSON	NM_017613.4(DONSON):c.494T>C:p.Phe165Ser	coding	Pathogenic
21	33587470	G	A	G33587470A	DONSON	NM_017613.4(DONSON):c.402+52C>T	noncoding	Benign
21	33588328	G	C	G33588328C	DONSON	NM_017613.4(DONSON):c.314C>G:p.Pro105Arg	coding	Benign
21	33588537	C	G	C33588537G	DONSON	NM_017613.4(DONSON):c.105G>C:p.Pro35=	coding	Benign
21	33588829	T	C	T33588829C	DONSON	Single_allele	noncoding	Benign
21	33718560	G	C	G33718560C	ITSN1	NM_003024.3(ITSN1):c.-32-237G>C	noncoding	Benign
21	33750420	A	G	A33750420G	ITSN1	NM_003024.3(ITSN1):c.526+98A>G	noncoding	Benign
21	33751948	A	G	A33751948G	ITSN1	NM_003024.3(ITSN1):c.623+42A>G	noncoding	Benign
21	33755055	A	G	A33755055G	ITSN1	NM_003024.3(ITSN1):c.624-242A>G	noncoding	Benign
21	33755430	C	A	C33755430A	ITSN1	NM_003024.3(ITSN1):c.724+33C>A	noncoding	Benign
21	33762117	T	C	T33762117C	ITSN1	NM_003024.3(ITSN1):c.788+131T>C	noncoding	Benign
21	33766022	A	G	A33766022G	ITSN1	NM_003024.3(ITSN1):c.926+10A>G	noncoding	Benign
21	33794499	G	T	G33794499T	ITSN1	NM_003024.3(ITSN1):c.1952+31G>T	noncoding	Benign
21	33794511	G	T	G33794511T	ITSN1	NM_003024.3(ITSN1):c.1952+43G>T	noncoding	Benign
21	33794641	A	G	A33794641G	ITSN1	NM_003024.3(ITSN1):c.1952+173A>G	noncoding	Benign
21	33818498	T	C	T33818498C	ITSN1	NM_003024.3(ITSN1):c.2933+26T>C	noncoding	Benign
21	33819223	C	G	C33819223G	ITSN1	NM_003024.3(ITSN1):c.2934-18C>G	noncoding	Benign
21	33829643	C	T	C33829643T	ITSN1	NM_003024.3(ITSN1):c.3249C>T:p.Ala1083=	coding	Benign
21	33834095	A	G	A33834095G	ITSN1	NM_003024.3(ITSN1):c.3352-212A>G	noncoding	Benign
21	33834576	A	G	A33834576G	ITSN1	NM_003024.3(ITSN1):c.3469+152A>G	noncoding	Benign
21	33856649	A	G	A33856649G	ITSN1	NM_003024.3(ITSN1):c.3662-87A>G	noncoding	Benign
21	33858476	G	A	G33858476A	ITSN1	NM_003024.3(ITSN1):c.3784-210G>A	noncoding	Benign
21	33858617	G	C	G33858617C	ITSN1	NM_003024.3(ITSN1):c.3784-69G>C	noncoding	Benign
21	33858683	T	C	T33858683C	ITSN1	NM_003024.3(ITSN1):c.3784-3T>C	noncoding	Benign
21	33858960	G	A	G33858960A	ITSN1	NM_003024.3(ITSN1):c.3890+168G>A	noncoding	Benign
21	33858984	A	G	A33858984G	ITSN1	NM_003024.3(ITSN1):c.3890+192A>G	noncoding	Benign
21	33865045	A	G	A33865045G	ITSN1	NM_003024.3(ITSN1):c.3891-106A>G	noncoding	Benign
21	33865304	T	C	T33865304C	ITSN1	NM_003024.3(ITSN1):c.4044T>C:p.Asp1348=	coding	Benign
21	33867101	A	T	A33867101T	ITSN1	NM_003024.3(ITSN1):c.4075-132A>T	noncoding	Benign
21	33867258	A	G	A33867258G	ITSN1	NM_003024.3(ITSN1):c.4100A>G:p.Lys1367Arg	coding	Benign
21	33867430	C	T	C33867430T	ITSN1	NM_003024.3(ITSN1):c.4173+99C>T	noncoding	Benign
21	33875156	C	T	C33875156T	ITSN1	NM_003024.3(ITSN1):c.4174-198C>T	noncoding	Benign
21	33875165	G	C	G33875165C	ITSN1	NM_003024.3(ITSN1):c.4174-189G>C	noncoding	Benign
21	33875307	G	A	G33875307A	ITSN1	NM_003024.3(ITSN1):c.4174-47G>A	noncoding	Benign
21	33875569	C	G	C33875569G	ITSN1	NM_003024.3(ITSN1):c.4341+48C>G	noncoding	Benign
21	33882149	T	G	T33882149G	ITSN1	NM_003024.3(ITSN1):c.4342-94T>G	noncoding	Benign
21	33882644	T	G	T33882644G	ITSN1	NM_003024.3(ITSN1):c.4554+189T>G	noncoding	Benign
21	33883696	T	A	T33883696A	ITSN1	NM_003024.3(ITSN1):c.4676+25T>A	noncoding	Benign
21	33888177	T	C	T33888177C	ITSN1	NM_003024.3(ITSN1):c.5043T>C:p.Arg1681=	coding	Benign
21	33888240	C	T	C33888240T	ITSN1	NM_003024.3(ITSN1):c.5106C>T:p.His1702=	coding	Benign
21	33909089	A	G	A33909089G	ATP5PO	NM_001697.3(ATP5PO):c.321T>C:p.Asn107=	coding	Benign
21	34364145	T	A	T34364145A	KCNE2	NM_172201.2(KCNE2):c.-19T>A	noncoding	Benign
21	34370411	C	T	C34370411T	KCNE2	NM_172201.2(KCNE2):c.-12-56C>T	noncoding	Benign
21	34370423	C	T	C34370423T	KCNE2	NM_172201.2(KCNE2):c.-12-44C>T	noncoding	Benign
21	34370730	C	T	C34370730T	KCNE2	NM_172201.2(KCNE2):c.252C>T:p.Tyr84=	coding	Benign/Likely_benign
21	34370883	G	A	G34370883A	KCNE2	NM_172201.2(KCNE2):c.*33G>A	noncoding	Benign
21	34371043	G	A	G34371043A	KCNE2	NM_172201.2(KCNE2):c.*193G>A	noncoding	Benign
21	34371083	C	T	C34371083T	KCNE2	NM_172201.2(KCNE2):c.*233C>T	noncoding	Benign
21	34371160	G	A	G34371160A	KCNE2	NM_172201.2(KCNE2):c.*310G>A	noncoding	Benign
21	34449383	G	A	G34449383A	KCNE1	NM_000219.6(KCNE1):c.252C>T:p.Ser84=	coding	Benign/Likely_benign
21	34449481	C	T	C34449481T	KCNE1	NM_000219.6(KCNE1):c.154G>A:p.Gly52Arg	coding	Pathogenic
21	34455618	C	T	C34455618T	KCNE1	NM_000219.6(KCNE1):c.-51+3036G>A	noncoding	Benign
21	34458583	T	C	T34458583C	KCNE1	NM_000219.6(KCNE1):c.-51+71A>G	noncoding	Benign
21	34458731	G	A	G34458731A	KCNE1	NM_000219.6(KCNE1):c.-128C>T	noncoding	Benign
21	34459330	A	T	A34459330T	KCNE1	NM_000219.6(KCNE1):c.-161-566T>A	noncoding	Benign
21	34459536	T	G	T34459536G	KCNE1	NM_000219.6(KCNE1):c.-161-772A>C	noncoding	Benign
21	34459639	C	A	C34459639A	KCNE1	NM_000219.6(KCNE1):c.-161-875G>T	noncoding	Benign
21	34459645	A	G	A34459645G	KCNE1	NM_000219.6(KCNE1):c.-161-881T>C	noncoding	Benign
21	34511108	C	T	C34511108T	KCNE1	NM_000219.6(KCNE1):c.-169G>A	noncoding	Benign
21	34511290	C	T	C34511290T	KCNE1	NM_000219.6(KCNE1):c.-351G>A	noncoding	Benign
21	34787766	A	G	A34787766G	RUNX1	Single_allele	noncoding	Benign
21	34790130	T	C	T34790130C	RUNX1	NM_001754.5(RUNX1):c.*2005A>G	noncoding	Benign
21	34792182	T	A	T34792182A	RUNX1	NM_001754.5(RUNX1):c.1396A>T:p.Met466Leu	coding	Benign
21	34792240	G	A	G34792240A	RUNX1	NM_001754.5(RUNX1):c.1338C>T:p.Leu446=	coding	Benign
21	34792388	T	C	T34792388C	RUNX1	NM_001754.5(RUNX1):c.1190A>G:p.Gln397Arg	coding	Benign
21	34792744	T	C	T34792744C	RUNX1	NM_001754.5(RUNX1):c.968-134A>G	noncoding	Benign
21	34792879	C	T	C34792879T	RUNX1	NM_001754.5(RUNX1):c.968-269G>A	noncoding	Benign
21	34799421	G	A	G34799421A	RUNX1	NM_001754.5(RUNX1):c.847C>T:p.Gln283Ter	coding	Pathogenic
21	34821574	T	C	T34821574C	RUNX1	NM_001754.5(RUNX1):c.805+12836A>G	coding	Benign
21	34834224	G	A	G34834224A	RUNX1	NM_001754.5(RUNX1):c.805+186C>T	noncoding	Benign
21	34834413	G	A	G34834413A	RUNX1	NM_001754.5(RUNX1):c.802C>T:p.Gln268Ter	coding	Pathogenic
21	34834431	G	A	G34834431A	RUNX1	NM_001754.5(RUNX1):c.784C>T:p.Gln262Ter	coding	Pathogenic
21	34859456	C	G	C34859456G	RUNX1	NM_001754.5(RUNX1):c.613+18G>C	noncoding	Benign
21	34859859	C	A	C34859859A	RUNX1	NM_001754.5(RUNX1):c.509-281G>T	noncoding	Benign
21	34880298	G	A	G34880298A	RUNX1	NM_001754.5(RUNX1):c.508+259C>T	noncoding	Benign
21	34880325	T	C	T34880325C	RUNX1	NM_001754.5(RUNX1):c.508+232A>G	noncoding	Benign
21	34880556	C	A	C34880556A	RUNX1	NM_001754.5(RUNX1):c.508+1G>T	noncoding	Pathogenic
21	34880556	C	T	C34880556T	RUNX1	NM_001754.5(RUNX1):c.508+1G>A	noncoding	Pathogenic
21	34880569	G	A	G34880569A	RUNX1	NM_001754.5(RUNX1):c.496C>T:p.Arg166Ter	coding	Pathogenic
21	34880642	C	T	C34880642T	RUNX1	NM_001754.5(RUNX1):c.423G>A:p.Ser141=	coding	Benign
21	34880897	T	A	T34880897A	RUNX1	NM_001754.5(RUNX1):c.352-184A>T	noncoding	Benign
21	34881005	A	G	A34881005G	RUNX1	NM_001754.5(RUNX1):c.352-292T>C	noncoding	Benign
21	34886542	T	C	T34886542C	RUNX1	NM_001754.5(RUNX1):c.351+301A>G	noncoding	Benign
21	34886877	C	T	C34886877T	RUNX1	NM_001754.5(RUNX1):c.317G>A:p.Trp106Ter	coding	Pathogenic
21	34886927	C	T	C34886927T	RUNX1	NM_001754.5(RUNX1):c.267G>A:p.Leu89_Val90=	coding	Pathogenic
21	34886989	C	G	C34886989G	RUNX1	NM_001754.5(RUNX1):c.205G>C:p.Gly69Arg	coding	Benign
21	34887015	G	A	G34887015A	RUNX1	NM_001754.5(RUNX1):c.179C>T:p.Ala60Val	coding	Benign
21	34887033	T	A	T34887033A	RUNX1	NM_001754.5(RUNX1):c.161A>T:p.Glu54Val	coding	Pathogenic
21	34887097	C	T	C34887097T	RUNX1	NM_001754.5(RUNX1):c.98-1G>A	coding	Pathogenic
21	35048577	C	T	C35048577T	RUNX1	NM_001754.5(RUNX1):c.58+265G>A	noncoding	Benign
21	35048578	G	A	G35048578A	RUNX1	NM_001754.5(RUNX1):c.58+264C>T	noncoding	Benign
21	35048739	T	C	T35048739C	RUNX1	NM_001754.5(RUNX1):c.58+103A>G	noncoding	Benign
21	35049034	T	C	T35049034C	RUNX1	NM_001754.5(RUNX1):c.-59-76A>G	noncoding	Benign
21	36460925	C	T	C36460925T	CLDN14	NM_001146079.2(CLDN14):c.*51G>A	noncoding	Benign/Likely_benign
21	36461108	G	C	G36461108C	CLDN14	NM_001146079.2(CLDN14):c.588C>G:p.Ala196=	coding	Benign
21	36461402	G	A	G36461402A	CLDN14	NM_001146079.2(CLDN14):c.294C>T:p.Ala98=	coding	Benign/Likely_benign
21	36461960	T	C	T36461960C	CLDN14	NM_001146079.2(CLDN14):c.-81-184A>G	noncoding	Benign
21	36756255	G	A	G36756255A	HLCS	NM_001352514.2(HLCS):c.2450+287C>T	noncoding	Benign
21	36756265	C	T	C36756265T	HLCS	NM_001352514.2(HLCS):c.2450+277G>A	noncoding	Benign
21	36756266	A	G	A36756266G	HLCS	NM_001352514.2(HLCS):c.2450+276T>C	noncoding	Benign
21	36756267	C	T	C36756267T	HLCS	NM_001352514.2(HLCS):c.2450+275G>A	noncoding	Benign
21	36756271	C	T	C36756271T	HLCS	NM_001352514.2(HLCS):c.2450+271G>A	noncoding	Benign
21	36756429	C	T	C36756429T	HLCS	NM_001352514.2(HLCS):c.2450+113G>A	noncoding	Benign
21	36756558	G	A	G36756558A	HLCS	NM_001352514.2(HLCS):c.2434C>T:p.Arg812Ter	coding	Pathogenic/Likely_pathogenic
21	36756713	A	G	A36756713G	HLCS	NM_001352514.2(HLCS):c.2279T>C:p.Ile760Thr	coding	Pathogenic
21	36756821	A	C	A36756821C	HLCS	NM_001352514.2(HLCS):c.2237-66T>G	noncoding	Benign
21	36759568	G	A	G36759568A	HLCS	NM_001352514.2(HLCS):c.2236+159C>T	noncoding	Benign
21	36759819	C	T	C36759819T	HLCS	NM_001352514.2(HLCS):c.2144G>A:p.Trp715Ter	coding	Pathogenic
21	36765296	C	T	C36765296T	HLCS	NM_001352514.2(HLCS):c.1961-124G>A	noncoding	Benign
21	36767101	T	A	T36767101A	HLCS	NM_001352514.2(HLCS):c.1960+117A>T	noncoding	Benign
21	36897106	C	T	C36897106T	HLCS	NM_001352514.2(HLCS):c.1646G>A:p.Trp549Ter	coding	Pathogenic
21	36930161	C	G	C36930161G	HLCS	NM_001352514.2(HLCS):c.1620+90G>C	noncoding	Benign
21	36930342	A	T	A36930342T	HLCS	NM_001352514.2(HLCS):c.1529T>A:p.Val510Asp	coding	Pathogenic/Likely_pathogenic
21	36936730	G	A	G36936730A	HLCS	NM_001352514.2(HLCS):c.1156C>T:p.Gln386Ter	coding	Pathogenic
21	36937123	C	A	C36937123A	HLCS	NM_001352514.2(HLCS):c.763G>T:p.Glu255Ter	coding	Pathogenic
21	36937222	G	A	G36937222A	HLCS	NM_001352514.2(HLCS):c.664C>T:p.Gln222Ter	coding	Pathogenic
21	36937472	T	C	T36937472C	HLCS	NM_001352514.2(HLCS):c.494-80A>G	noncoding	Benign
21	36937633	T	C	T36937633C	HLCS	NM_001352514.2(HLCS):c.494-241A>G	noncoding	Benign
21	36947448	G	A	G36947448A	HLCS	NM_001352514.2(HLCS):c.331-8454C>T	noncoding	Benign
21	36947706	C	G	C36947706G	HLCS	NM_001352514.2(HLCS):c.331-8712G>C	noncoding	Benign
21	36947707	T	G	T36947707G	HLCS	NM_001352514.2(HLCS):c.331-8713A>C	noncoding	Benign
21	36966351	C	T	C36966351T	HLCS	NM_001352514.2(HLCS):c.195+93G>A	noncoding	Benign
21	36966365	C	G	C36966365G	HLCS	NM_001352514.2(HLCS):c.195+79G>C	noncoding	Benign
21	36966669	T	C	T36966669C	HLCS	NM_001352514.2(HLCS):c.-31A>G	noncoding	Benign
21	36966723	G	A	G36966723A	HLCS	NM_000411.8(HLCS):c.-392-4553C>T	noncoding	Benign
21	36966727	C	T	C36966727T	HLCS	NM_000411.8(HLCS):c.-392-4557G>A	noncoding	Benign
21	36966830	T	G	T36966830G	HLCS	NM_000411.8(HLCS):c.-392-4660A>C	noncoding	Benign
21	36981051	G	A	G36981051A	HLCS	NM_000411.8(HLCS):c.-393+9107C>T	noncoding	Benign
21	36990070	T	C	T36990070C	HLCS	NM_000411.8(HLCS):c.-393+88A>G	noncoding	Benign
21	36990119	A	G	A36990119G	HLCS	NM_000411.8(HLCS):c.-393+39T>C	noncoding	Benign
21	36990132	T	C	T36990132C	HLCS	NM_000411.8(HLCS):c.-393+26A>G	noncoding	Benign
21	37065651	T	G	T37065651G	PIGP	NM_153682.3(PIGP):c.336A>C:p.Arg112Ser	coding	Benign
21	37067386	A	G	A37067386G	PIGP	NM_153682.3(PIGP):c.156-6T>C	noncoding	Benign
21	37072438	G	T	G37072438T	PIGP	NM_153682.3(PIGP):c.78C>A:p.Gly26=	coding	Benign
21	37072464	C	T	C37072464T	PIGP	NM_153682.3(PIGP):c.52G>A:p.Val18Ile	coding	Benign
21	37072514	A	G	A37072514G	PIGP	NM_153682.3(PIGP):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
21	37072581	G	A	G37072581A	PIGP	NM_153682.3(PIGP):c.-22-44C>T	coding	Benign
21	37367381	A	C	A37367381C	DYRK1A	NM_001347721.2(DYRK1A):c.-324A>C	noncoding	Benign
21	37367544	C	T	C37367544T	DYRK1A	NM_001347721.2(DYRK1A):c.-161C>T	noncoding	Benign
21	37419234	A	G	A37419234G	DYRK1A	NM_001347721.2(DYRK1A):c.-76-1065A>G	noncoding	Benign
21	37420381	A	G	A37420381G	DYRK1A	NM_001347721.2(DYRK1A):c.7A>G:p.Thr3Ala	coding	Benign
21	37472509	C	T	C37472509T	DYRK1A	NM_001347721.2(DYRK1A):c.11-175C>T	noncoding	Benign
21	37472644	A	C	A37472644C	DYRK1A	NM_001347721.2(DYRK1A):c.11-40A>C	noncoding	Benign
21	37472716	G	A	G37472716A	DYRK1A	NM_001347721.2(DYRK1A):c.43G>A:p.Val15Ile	coding	Benign
21	37472720	G	A	G37472720A	DYRK1A	NM_001347721.2(DYRK1A):c.47G>A:p.Arg16Gln	coding	Benign
21	37472801	G	A	G37472801A	DYRK1A	NM_001347721.2(DYRK1A):c.128G>A:p.Arg43His	coding	Benign
21	37473048	T	A	T37473048A	DYRK1A	NM_001347721.2(DYRK1A):c.207+168T>A	noncoding	Benign
21	37478234	C	T	C37478234T	DYRK1A	NM_001347721.2(DYRK1A):c.234C>T:p.Asp78=	coding	Benign/Likely_benign
21	37478309	T	C	T37478309C	DYRK1A	NM_001347721.2(DYRK1A):c.300+9T>C	noncoding	Benign
21	37478338	G	A	G37478338A	DYRK1A	NM_001347721.2(DYRK1A):c.300+38G>A	noncoding	Benign
21	37479146	A	G	A37479146G	DYRK1A	NM_001347721.2(DYRK1A):c.300+846A>G	noncoding	Pathogenic
21	37480668	C	T	C37480668T	DYRK1A	NM_001347721.2(DYRK1A):c.331C>T:p.Gln111Ter	coding	Pathogenic
21	37480704	G	T	G37480704T	DYRK1A	NM_001347721.2(DYRK1A):c.367G>T:p.Glu123Ter	coding	Pathogenic
21	37486604	A	G	A37486604G	DYRK1A	NM_001347721.2(DYRK1A):c.627A>G:p.Lys209=	coding	Benign/Likely_benign
21	37490071	T	A	T37490071A	DYRK1A	NM_001347721.2(DYRK1A):c.638-104T>A	noncoding	Benign
21	37490174	G	A	G37490174A	DYRK1A	NM_001347721.2(DYRK1A):c.638-1G>A	noncoding	Pathogenic
21	37490187	G	A	G37490187A	DYRK1A	NM_001347721.2(DYRK1A):c.650G>A:p.Arg217His	coding	Benign
21	37490274	G	A	G37490274A	DYRK1A	NM_001347721.2(DYRK1A):c.737G>A:p.Arg246Gln	coding	Benign
21	37490300	A	T	A37490300T	DYRK1A	NM_001347721.2(DYRK1A):c.763A>T:p.Lys255Ter	coding	Pathogenic
21	37490309	C	T	C37490309T	DYRK1A	NM_001347721.2(DYRK1A):c.772C>T:p.Gln258Ter	coding	Pathogenic
21	37490364	A	G	A37490364G	DYRK1A	NM_001347721.2(DYRK1A):c.827A>G:p.His276Arg	coding	Pathogenic
21	37490446	T	A	T37490446A	DYRK1A	NM_001347721.2(DYRK1A):c.909T>A:p.Cys303Ter	coding	Pathogenic
21	37490462	G	C	G37490462C	DYRK1A	NM_001347721.2(DYRK1A):c.924+1G>C	coding	Pathogenic
21	37490483	G	A	G37490483A	DYRK1A	NM_001347721.2(DYRK1A):c.924+22G>A	noncoding	Benign
21	37490560	C	T	C37490560T	DYRK1A	NM_001347721.2(DYRK1A):c.924+99C>T	noncoding	Benign
21	37492998	A	G	A37492998G	DYRK1A	NM_001347721.2(DYRK1A):c.925-19A>G	noncoding	Benign/Likely_benign
21	37493009	T	C	T37493009C	DYRK1A	NM_001347721.2(DYRK1A):c.925-8T>C	noncoding	Benign
21	37493039	G	A	G37493039A	DYRK1A	NM_001347721.2(DYRK1A):c.947G>A:p.Arg316His	coding	Pathogenic
21	37493047	C	A	C37493047A	DYRK1A	NM_001347721.2(DYRK1A):c.955C>A:p.Arg319=	coding	Benign
21	37493106	C	T	C37493106T	DYRK1A	NM_001347721.2(DYRK1A):c.1014C>T:p.Leu338=	coding	Benign/Likely_benign
21	37493178	G	A	G37493178A	DYRK1A	NM_001347721.2(DYRK1A):c.1071+15G>A	noncoding	Benign/Likely_benign
21	37496289	T	G	T37496289G	DYRK1A	NM_001347721.2(DYRK1A):c.1212+31T>G	noncoding	Benign
21	37505200	T	G	T37505200G	DYRK1A	NM_001347721.2(DYRK1A):c.1213-83T>G	noncoding	Benign
21	37505241	T	G	T37505241G	DYRK1A	NM_001347721.2(DYRK1A):c.1213-42T>G	noncoding	Benign
21	37505281	A	G	A37505281G	DYRK1A	NM_001347721.2(DYRK1A):c.1213-2A>G	noncoding	Pathogenic/Likely_pathogenic
21	37505288	C	G	C37505288G	DYRK1A	NM_001347721.2(DYRK1A):c.1218C>G:p.Tyr406Ter	coding	Pathogenic
21	37505578	C	G	C37505578G	DYRK1A	NM_001347721.2(DYRK1A):c.1508C>G:p.Ser503Trp	coding	Benign
21	37506144	C	T	C37506144T	DYRK1A	NM_001347721.2(DYRK1A):c.1565C>T:p.Pro522Leu	coding	Benign
21	37506209	A	G	A37506209G	DYRK1A	NM_001347721.2(DYRK1A):c.1630A>G:p.Thr544Ala	coding	Benign/Likely_benign
21	37506296	C	A	C37506296A	DYRK1A	NM_001347721.2(DYRK1A):c.1644+73C>A	coding	Benign/Likely_benign
21	37511914	C	T	C37511914T	DYRK1A	NM_001347721.2(DYRK1A):c.1648C>T:p.Arg550Cys	coding	Benign/Likely_benign
21	37511959	C	T	C37511959T	DYRK1A	NM_001347721.2(DYRK1A):c.1693C>T:p.Pro565Ser	coding	Benign
21	37511965	C	T	C37511965T	DYRK1A	NM_001347721.2(DYRK1A):c.1699C>T:p.Gln567Ter	coding	Pathogenic
21	37511968	G	C	G37511968C	DYRK1A	NM_001347721.2(DYRK1A):c.1702G>C:p.Val568Leu	coding	Benign
21	37512001	A	C	A37512001C	DYRK1A	NM_001347721.2(DYRK1A):c.1735A>C:p.Thr579Pro	coding	Benign/Likely_benign
21	37512118	C	T	C37512118T	DYRK1A	NM_001347721.2(DYRK1A):c.1852C>T:p.Arg618Trp	coding	Benign
21	37512269	A	G	A37512269G	DYRK1A	NM_001347721.2(DYRK1A):c.2003A>G:p.Asn668Ser	coding	Benign
21	37512337	G	A	G37512337A	DYRK1A	NM_001347721.2(DYRK1A):c.2071G>A:p.Val691Ile	coding	Benign
21	37512454	A	G	A37512454G	DYRK1A	NM_001347721.2(DYRK1A):c.2188A>G:p.Met730Val	coding	Benign/Likely_benign
21	37512454	A	T	A37512454T	DYRK1A	NM_001347721.2(DYRK1A):c.2188A>T:p.Met730Leu	coding	Benign/Likely_benign
21	37512466	G	C	G37512466C	DYRK1A	NM_001347721.2(DYRK1A):c.2200G>C:p.Ala734Pro	coding	Benign
21	37625125	G	C	G37625125C	KCNJ6	NM_002240.5(KCNJ6):c.*34C>G	noncoding	Benign
21	37625399	G	A	G37625399A	KCNJ6	NM_002240.5(KCNJ6):c.1032C>T:p.Asp344=	coding	Benign
21	37625563	G	A	G37625563A	KCNJ6	NM_002240.5(KCNJ6):c.947-79C>T	noncoding	Benign
21	37714194	G	A	G37714194A	KCNJ6	NM_002240.5(KCNJ6):c.946+17C>T	noncoding	Benign
21	37714662	T	C	T37714662C	KCNJ6	NM_002240.5(KCNJ6):c.495A>G:p.Pro165=	coding	Benign
21	37715172	G	C	G37715172C	KCNJ6	NM_002240.5(KCNJ6):c.26-41C>G	noncoding	Benign
21	37840383	A	G	A37840383G	KCNJ6	NM_002240.5(KCNJ6):c.25+275T>C	noncoding	Benign
21	37840555	A	G	A37840555G	KCNJ6	NM_002240.5(KCNJ6):c.25+103T>C	noncoding	Benign
21	37840718	G	A	G37840718A	KCNJ6	NM_002240.5(KCNJ6):c.-27-9C>T	noncoding	Benign
21	39199320	A	G	A39199320G	BRWD1	NM_033656.4(BRWD1):c.5096T>C:p.Leu1699Pro	coding	Benign
21	39202379	A	G	A39202379G	BRWD1	NM_033656.4(BRWD1):c.4531T>C:p.Ser1511Pro	coding	Benign
21	39313313	A	G	A39313313G	BRWD1	NM_033656.4(BRWD1):c.50-14T>C	noncoding	Benign
21	39779205	G	A	G39779205A	IGSF5	NM_001080444.2(IGSF5):c.834G>A:p.Thr278=	coding	Benign
21	41370109	C	A	C41370109A	MX2	NM_002463.2(MX2):c.-71-6727C>A	noncoding	Benign
21	41480570	C	T	C41480570T	TMPRSS2	NM_005656.4(TMPRSS2):c.478G>A:p.Val160Met	coding	Benign
21	41507982	C	A	C41507982A	TMPRSS2	NM_005656.4(TMPRSS2):c.-57+99G>T	coding	Benign
21	41740563	A	G	A41740563G	RIPK4	NM_020639.3(RIPK4):c.*275T>C	noncoding	Benign/Likely_benign
21	41740619	A	C	A41740619C	RIPK4	NM_020639.3(RIPK4):c.*219T>G	noncoding	Benign/Likely_benign
21	41742040	T	C	T41742040C	RIPK4	NM_020639.3(RIPK4):c.1196-43A>G	noncoding	Benign
21	41742174	G	A	G41742174A	RIPK4	NM_020639.3(RIPK4):c.1196-177C>T	noncoding	Benign
21	41742196	G	A	G41742196A	RIPK4	NM_020639.3(RIPK4):c.1196-199C>T	noncoding	Benign
21	41744159	G	A	G41744159A	RIPK4	NM_020639.3(RIPK4):c.937-19C>T	noncoding	Benign
21	41744185	A	C	A41744185C	RIPK4	NM_020639.3(RIPK4):c.937-45T>G	noncoding	Benign
21	41745483	C	T	C41745483T	RIPK4	NM_020639.3(RIPK4):c.936+276G>A	noncoding	Benign
21	41745664	T	C	T41745664C	RIPK4	NM_020639.3(RIPK4):c.936+95A>G	noncoding	Benign
21	41746181	G	A	G41746181A	RIPK4	NM_020639.3(RIPK4):c.833-319C>T	noncoding	Benign
21	41746466	T	G	T41746466G	RIPK4	NM_020639.3(RIPK4):c.832+147A>C	noncoding	Benign
21	41746895	A	G	A41746895G	RIPK4	NM_020639.3(RIPK4):c.674-124T>C	noncoding	Benign
21	41748885	G	C	G41748885C	RIPK4	NM_020639.3(RIPK4):c.673+269C>G	noncoding	Benign
21	41751470	G	A	G41751470A	RIPK4	NM_020639.3(RIPK4):c.475-225C>T	noncoding	Benign
21	41756964	C	T	C41756964T	RIPK4	NM_020639.3(RIPK4):c.183-148G>A	noncoding	Benign
21	41766691	C	A	C41766691A	RIPK4	NM_020639.3(RIPK4):c.182+169G>T	noncoding	Benign
21	41766700	A	C	A41766700C	RIPK4	NM_020639.3(RIPK4):c.182+160T>G	noncoding	Benign
21	41767119	G	A	G41767119A	RIPK4	Single_allele	noncoding	Benign
21	41767238	A	C	A41767238C	RIPK4	Single_allele	noncoding	Benign
21	42088483	T	G	T42088483G	UMODL1	NM_001004416.3(UMODL1):c.790+3T>G	noncoding	Benign
21	42372983	G	C	G42372983C	TMPRSS3	NM_001256317.3(TMPRSS3):c.1345-204C>G	noncoding	Benign
21	42373023	G	A	G42373023A	TMPRSS3	NM_001256317.3(TMPRSS3):c.1345-244C>T	noncoding	Benign
21	42375588	G	A	G42375588A	TMPRSS3	NM_001256317.3(TMPRSS3):c.1344+128C>T	noncoding	Benign
21	42375600	G	A	G42375600A	TMPRSS3	NM_001256317.3(TMPRSS3):c.1344+116C>T	noncoding	Benign
21	42375844	A	G	A42375844G	TMPRSS3	NM_001256317.3(TMPRSS3):c.1216T>C:p.Cys406Arg	coding	Pathogenic
21	42376385	G	C	G42376385C	TMPRSS3	NM_001256317.3(TMPRSS3):c.1191+156C>G	noncoding	Benign
21	42376745	C	T	C42376745T	TMPRSS3	NM_001256317.3(TMPRSS3):c.1049-62G>A	noncoding	Benign
21	42376804	T	A	T42376804A	TMPRSS3	NM_001256317.3(TMPRSS3):c.1049-121A>T	noncoding	Benign
21	42376913	A	G	A42376913G	TMPRSS3	NM_001256317.3(TMPRSS3):c.1049-230T>C	noncoding	Benign
21	42376914	G	C	G42376914C	TMPRSS3	NM_001256317.3(TMPRSS3):c.1049-231C>G	noncoding	Benign
21	42380429	C	G	C42380429G	TMPRSS3	NM_001256317.3(TMPRSS3):c.953-217G>C	noncoding	Benign
21	42381694	T	C	T42381694C	TMPRSS3	NM_001256317.3(TMPRSS3):c.952+371A>G	noncoding	Benign
21	42381849	T	A	T42381849A	TMPRSS3	NM_001256317.3(TMPRSS3):c.952+216A>T	noncoding	Benign
21	42382524	T	C	T42382524C	TMPRSS3	NM_001256317.3(TMPRSS3):c.783-290A>G	noncoding	Benign
21	42383136	G	A	G42383136A	TMPRSS3	NM_001256317.3(TMPRSS3):c.679C>T:p.Gln227Ter	coding	Pathogenic
21	42383169	G	A	G42383169A	TMPRSS3	NM_001256317.3(TMPRSS3):c.646C>T:p.Arg216Cys	coding	Pathogenic
21	42383303	T	C	T42383303C	TMPRSS3	NM_001256317.3(TMPRSS3):c.617-105A>G	noncoding	Benign
21	42383415	G	A	G42383415A	TMPRSS3	NM_001256317.3(TMPRSS3):c.617-217C>T	noncoding	Benign
21	42384304	A	G	A42384304G	TMPRSS3	NM_001256317.3(TMPRSS3):c.573-291T>C	noncoding	Benign
21	42385273	A	G	A42385273G	TMPRSS3	NM_001256317.3(TMPRSS3):c.572+136T>C	noncoding	Benign
21	42385856	G	A	G42385856A	TMPRSS3	NM_001256317.3(TMPRSS3):c.447-322C>T	noncoding	Benign
21	42388106	T	G	T42388106G	TMPRSS3	NM_001256317.3(TMPRSS3):c.446+297A>C	noncoding	Benign
21	42388449	T	A	T42388449A	TMPRSS3	NM_001256317.3(TMPRSS3):c.400A>T:p.Lys134Ter	coding	Pathogenic
21	42388451	C	T	C42388451T	TMPRSS3	NM_001256317.3(TMPRSS3):c.398G>A:p.Trp133Ter	coding	Pathogenic
21	42388503	C	T	C42388503T	TMPRSS3	NM_001256317.3(TMPRSS3):c.346G>A:p.Val116Met	coding	Pathogenic/Likely_pathogenic
21	42388700	C	G	C42388700G	TMPRSS3	NM_001256317.3(TMPRSS3):c.323-174G>C	noncoding	Benign
21	42388758	C	T	C42388758T	TMPRSS3	NM_001256317.3(TMPRSS3):c.322+171G>A	noncoding	Benign
21	42388818	A	G	A42388818G	TMPRSS3	NM_001256317.3(TMPRSS3):c.322+111T>C	noncoding	Benign
21	42388855	T	A	T42388855A	TMPRSS3	NM_001256317.3(TMPRSS3):c.322+74A>T	noncoding	Benign
21	42389009	G	C	G42389009C	TMPRSS3	NM_001256317.3(TMPRSS3):c.242C>G:p.Ser81Ter	coding	Pathogenic
21	42389309	C	G	C42389309G	TMPRSS3	NM_001256317.3(TMPRSS3):c.206-264G>C	noncoding	Benign
21	42389385	G	C	G42389385C	TMPRSS3	NM_001256317.3(TMPRSS3):c.206-340C>G	noncoding	Benign
21	42389717	T	C	T42389717C	TMPRSS3	NM_001256317.3(TMPRSS3):c.205+210A>G	noncoding	Benign
21	42395056	A	G	A42395056G	TMPRSS3	NM_001256317.3(TMPRSS3):c.94+268T>C	noncoding	Benign
21	42395084	C	T	C42395084T	TMPRSS3	NM_001256317.3(TMPRSS3):c.94+240G>A	noncoding	Benign
21	42395372	G	A	G42395372A	TMPRSS3	NM_001256317.3(TMPRSS3):c.46C>T:p.Arg16Ter	coding	Pathogenic
21	42395552	T	C	T42395552C	TMPRSS3	NM_001256317.3(TMPRSS3):c.-51-84A>G	noncoding	Benign
21	42395664	A	G	A42395664G	TMPRSS3	NM_001256317.3(TMPRSS3):c.-51-196T>C	noncoding	Benign
21	42395720	C	T	C42395720T	TMPRSS3	NM_001256317.3(TMPRSS3):c.-52+222G>A	noncoding	Benign
21	42395767	G	A	G42395767A	TMPRSS3	NM_001256317.3(TMPRSS3):c.-52+175C>T	noncoding	Benign
21	42434957	A	C	A42434957C	UBASH3A	NM_018961.4(UBASH3A):c.1393+3A>C	noncoding	Benign
21	42472531	T	C	T42472531C	RSPH1	NM_080860.4(RSPH1):c.*287A>G	noncoding	Benign
21	42472636	C	T	C42472636T	RSPH1	NM_080860.4(RSPH1):c.*182G>A	noncoding	Benign
21	42472665	G	A	G42472665A	RSPH1	NM_080860.4(RSPH1):c.*153C>T	noncoding	Benign
21	42472765	G	A	G42472765A	RSPH1	NM_080860.4(RSPH1):c.*53C>T	noncoding	Benign
21	42473074	G	A	G42473074A	RSPH1	NM_080860.4(RSPH1):c.878-204C>T	noncoding	Benign
21	42475587	T	C	T42475587C	RSPH1	NM_080860.4(RSPH1):c.877+311A>G	noncoding	Benign
21	42475588	G	A	G42475588A	RSPH1	NM_080860.4(RSPH1):c.877+310C>T	noncoding	Benign
21	42475614	T	G	T42475614G	RSPH1	NM_080860.4(RSPH1):c.877+284A>C	noncoding	Benign
21	42475786	C	T	C42475786T	RSPH1	NM_080860.4(RSPH1):c.877+112G>A	noncoding	Benign
21	42476291	A	C	A42476291C	RSPH1	NM_080860.4(RSPH1):c.728-244T>G	noncoding	Benign
21	42476354	G	C	G42476354C	RSPH1	NM_080860.4(RSPH1):c.728-307C>G	noncoding	Benign
21	42477245	C	T	C42477245T	RSPH1	NM_080860.4(RSPH1):c.727+46G>A	noncoding	Benign
21	42477276	G	C	G42477276C	RSPH1	NM_080860.4(RSPH1):c.727+15C>G	noncoding	Benign
21	42477280	G	A	G42477280A	RSPH1	NM_080860.4(RSPH1):c.727+11C>T	noncoding	Benign
21	42477661	A	G	A42477661G	RSPH1	NM_080860.4(RSPH1):c.574-217T>C	noncoding	Benign
21	42477737	C	T	C42477737T	RSPH1	NM_080860.4(RSPH1):c.574-293G>A	noncoding	Benign
21	42477756	A	G	A42477756G	RSPH1	NM_080860.4(RSPH1):c.574-312T>C	noncoding	Benign
21	42482628	G	A	G42482628A	RSPH1	NM_080860.4(RSPH1):c.573+9C>T	noncoding	Benign
21	42482647	A	C	A42482647C	RSPH1	NM_080860.4(RSPH1):c.563T>G:p.Leu188Ter	coding	Pathogenic/Likely_pathogenic
21	42485655	T	C	T42485655C	RSPH1	NM_080860.4(RSPH1):c.501+14A>G	noncoding	Benign
21	42486241	G	C	G42486241C	RSPH1	NM_080860.4(RSPH1):c.365+130C>G	noncoding	Benign
21	42493260	G	A	G42493260A	RSPH1	NM_080860.4(RSPH1):c.55-181C>T	noncoding	Benign
21	42493268	A	G	A42493268G	RSPH1	NM_080860.4(RSPH1):c.55-189T>C	noncoding	Benign
21	42493311	G	A	G42493311A	RSPH1	NM_080860.4(RSPH1):c.55-232C>T	noncoding	Benign
21	42496186	T	G	T42496186G	RSPH1	NM_080860.4(RSPH1):c.1A>C:p.Met1Leu	coding	Pathogenic
21	42496229	G	A	G42496229A	RSPH1	NM_080860.4(RSPH1):c.-43C>T	noncoding	Benign
21	42850119	C	T	C42850119T	WDR4	NM_018669.6(WDR4):c.1169G>A:p.Arg390Gln	coding	Benign
21	42850166	C	T	C42850166T	WDR4	NM_018669.6(WDR4):c.1122G>A:p.Lys374=	coding	Benign
21	42850199	G	A	G42850199A	WDR4	NM_018669.6(WDR4):c.1089C>T:p.Ala363=	coding	Benign
21	42850292	C	G	C42850292G	WDR4	NM_018669.6(WDR4):c.1046-50G>C	noncoding	Benign
21	42850391	G	A	G42850391A	WDR4	NM_018669.6(WDR4):c.1046-149C>T	noncoding	Benign
21	42852217	G	A	G42852217A	WDR4	NM_018669.6(WDR4):c.1045+38C>T	noncoding	Benign
21	42852498	A	G	A42852498G	WDR4	NM_018669.6(WDR4):c.976-174T>C	noncoding	Benign
21	42853581	G	A	G42853581A	WDR4	NM_018669.6(WDR4):c.963C>T:p.Gly321=	coding	Benign
21	42853653	G	A	G42853653A	WDR4	NM_018669.6(WDR4):c.891C>T:p.Phe297=	coding	Benign
21	42853683	C	T	C42853683T	WDR4	NM_018669.6(WDR4):c.861G>A:p.Ala287=	coding	Benign
21	42853748	G	A	G42853748A	WDR4	NM_018669.6(WDR4):c.796C>T:p.Pro266Ser	coding	Benign
21	42853897	T	A	T42853897A	WDR4	NM_018669.6(WDR4):c.792-145A>T	noncoding	Benign
21	42854532	G	A	G42854532A	WDR4	NM_018669.6(WDR4):c.791+30C>T	noncoding	Benign
21	42854735	A	G	A42854735G	WDR4	NM_018669.6(WDR4):c.727-109T>C	noncoding	Benign
21	42855835	G	A	G42855835A	WDR4	NM_018669.6(WDR4):c.628-55C>T	noncoding	Benign
21	42855869	T	C	T42855869C	WDR4	NM_018669.6(WDR4):c.628-89A>G	noncoding	Benign
21	42855973	G	A	G42855973A	WDR4	NM_018669.6(WDR4):c.628-193C>T	noncoding	Benign
21	42859738	A	G	A42859738G	WDR4	NM_018669.6(WDR4):c.567-16T>C	noncoding	Benign
21	42859778	G	A	G42859778A	WDR4	NM_018669.6(WDR4):c.567-56C>T	noncoding	Benign
21	42863224	T	C	T42863224C	WDR4	NM_018669.6(WDR4):c.453+216A>G	noncoding	Benign
21	42863464	C	T	C42863464T	WDR4	NM_018669.6(WDR4):c.429G>A:p.Gly143=	coding	Benign
21	42863608	G	A	G42863608A	WDR4	NM_018669.6(WDR4):c.297-12C>T	noncoding	Benign
21	42863675	G	A	G42863675A	WDR4	NM_018669.6(WDR4):c.297-79C>T	noncoding	Benign
21	42873439	C	T	C42873439T	WDR4	NM_018669.6(WDR4):c.296+112G>A	noncoding	Benign
21	42873634	C	G	C42873634G	WDR4	NM_018669.6(WDR4):c.213G>C:p.Lys71Asn	coding	Benign
21	42879214	G	C	G42879214C	WDR4	NM_018669.6(WDR4):c.89+193C>G	coding	Benign
21	42879426	C	A	C42879426A	WDR4	NM_018669.6(WDR4):c.70G>T:p.Ala24Ser	coding	Benign
21	42903480	T	G	T42903480G	NDUFV3	NM_021075.4(NDUFV3):c.468T>G:p.Ser156=	coding	Benign
21	43053136	C	G	C43053136G	CBS	Single_allele	noncoding	Benign
21	43053497	G	A	G43053497A	CBS	NM_000071.3(CBS):c.*383C>T	noncoding	Benign/Likely_benign
21	43056923	T	C	T43056923C	CBS	NM_000071.3(CBS):c.1468-36A>G	noncoding	Benign
21	43056985	C	T	C43056985T	CBS	NM_000071.3(CBS):c.1468-98G>A	noncoding	Benign
21	43058215	G	T	G43058215T	CBS	NM_000071.3(CBS):c.1397C>A:p.Ser466Ter	coding	Pathogenic
21	43058472	G	A	G43058472A	CBS	NM_000071.3(CBS):c.1359-219C>T	noncoding	Benign
21	43058819	G	C	G43058819C	CBS	NM_000071.3(CBS):c.1358+15C>G	noncoding	Benign/Likely_benign
21	43058833	C	T	C43058833T	CBS	NM_000071.3(CBS):c.1358+1G>A	noncoding	Pathogenic/Likely_pathogenic
21	43059280	C	T	C43059280T	CBS	NM_000071.3(CBS):c.1169G>A:p.Trp390Ter	coding	Pathogenic
21	43062310	C	A	C43062310A	CBS	NM_000071.3(CBS):c.1039+1G>T	noncoding	Pathogenic
21	43062920	C	T	C43062920T	CBS	NM_000071.3(CBS):c.954+33G>A	noncoding	Benign
21	43063662	C	T	C43063662T	CBS	NM_000071.3(CBS):c.828+238G>A	noncoding	Benign
21	43063786	G	A	G43063786A	CBS	NM_000071.3(CBS):c.828+114C>T	noncoding	Benign
21	43063953	C	T	C43063953T	CBS	NM_000071.3(CBS):c.775G>A:p.Gly259Ser	coding	Pathogenic
21	43065273	C	G	C43065273G	CBS	NM_000071.3(CBS):c.667-1G>C	coding	Pathogenic
21	43065429	C	T	C43065429T	CBS	NM_000071.3(CBS):c.624G>A:p.Trp208Ter	coding	Pathogenic
21	43065522	C	T	C43065522T	CBS	NM_000071.3(CBS):c.532-1G>A	coding	Pathogenic
21	43066101	C	T	C43066101T	CBS	NM_000071.3(CBS):c.451+142G>A	noncoding	Benign
21	43066161	G	T	G43066161T	CBS	NM_000071.3(CBS):c.451+82C>A	noncoding	Benign
21	43066348	C	T	C43066348T	CBS	NM_000071.3(CBS):c.346G>A:p.Gly116Arg	coding	Pathogenic/Likely_pathogenic
21	43068285	G	T	G43068285T	CBS	NM_000071.3(CBS):c.316+224C>A	noncoding	Benign
21	43068563	G	A	G43068563A	CBS	NM_000071.3(CBS):c.262C>T:p.Pro88Ser	coding	Pathogenic
21	43072237	C	T	C43072237T	CBS	NM_000071.3(CBS):c.-8-36G>A	noncoding	Benign
21	43072360	G	A	G43072360A	CBS	NM_000071.3(CBS):c.-8-159C>T	noncoding	Benign
21	43073091	A	G	A43073091G	CBS	NM_000071.3(CBS):c.-9+175T>C	noncoding	Benign
21	43073121	T	C	T43073121C	CBS	NM_000071.3(CBS):c.-9+145A>G	noncoding	Benign
21	43073393	G	A	G43073393A	CBS	NM_000071.3(CBS):c.-84-52C>T	noncoding	Benign
21	43076030	T	G	T43076030G	CBS	NM_001178008.3(CBS):c.-85+195A>C	noncoding	Benign
21	43076866	C	G	C43076866G	CBS	NM_001320298.2(CBS):c.-251G>C	noncoding	Benign
21	43169459	C	T	C43169459T	CRYAA	NM_000394.4(CRYAA):c.189+171C>T	noncoding	Benign
21	43170256	C	T	C43170256T	CRYAA	NM_000394.4(CRYAA):c.190-261C>T	noncoding	Benign
21	43170811	G	A	G43170811A	CRYAA	NM_000394.4(CRYAA):c.312+172G>A	noncoding	Benign
21	43171788	G	C	G43171788C	CRYAA	NM_000394.4(CRYAA):c.313-283G>C	noncoding	Benign
21	43172030	G	A	G43172030A	CRYAA	NM_000394.4(CRYAA):c.313-41G>A	noncoding	Benign
21	43403465	G	T	G43403465T	-	Single_allele	noncoding	Benign
21	43416876	C	T	C43416876T	SIK1	NM_173354.5(SIK1):c.2218G>A:p.Ala740Thr	coding	Benign
21	43417593	G	A	G43417593A	SIK1	NM_173354.5(SIK1):c.1926C>T:p.Ala642=	coding	Benign/Likely_benign
21	43417687	T	C	T43417687C	SIK1	NM_173354.5(SIK1):c.1832A>G:p.Gln611Arg	coding	Benign
21	43418451	G	A	G43418451A	SIK1	NM_173354.5(SIK1):c.1553C>T:p.Ala518Val	coding	Benign/Likely_benign
21	43418516	C	T	C43418516T	SIK1	NM_173354.5(SIK1):c.1488G>A:p.Thr496=	coding	Benign
21	43418559	C	T	C43418559T	SIK1	NM_173354.5(SIK1):c.1463-18G>A	noncoding	Benign
21	43419010	G	A	G43419010A	SIK1	NM_173354.5(SIK1):c.1462+11C>T	noncoding	Benign
21	43419273	A	G	A43419273G	SIK1	NM_173354.5(SIK1):c.1246-36T>C	noncoding	Benign
21	43419914	C	T	C43419914T	SIK1	NM_173354.5(SIK1):c.1064G>A:p.Arg355His	coding	Benign/Likely_benign
21	43420267	C	A	C43420267A	SIK1	NM_173354.5(SIK1):c.939G>T:p.Gln313His	coding	Benign
21	43420335	C	T	C43420335T	SIK1	NM_173354.5(SIK1):c.871G>A:p.Ala291Thr	coding	Benign/Likely_benign
21	43420502	G	C	G43420502C	SIK1	NM_173354.5(SIK1):c.749-45C>G	noncoding	Benign
21	43420506	C	T	C43420506T	SIK1	NM_173354.5(SIK1):c.749-49G>A	noncoding	Benign
21	43420993	G	A	G43420993A	SIK1	NM_173354.5(SIK1):c.748+17C>T	noncoding	Benign
21	43421156	A	G	A43421156G	SIK1	NM_173354.5(SIK1):c.625-23T>C	noncoding	Benign
21	43421172	T	C	T43421172C	SIK1	NM_173354.5(SIK1):c.625-39A>G	noncoding	Benign
21	43421228	G	A	G43421228A	SIK1	NM_173354.5(SIK1):c.624+15C>T	noncoding	Benign
21	43421321	C	A	C43421321A	SIK1	NM_173354.5(SIK1):c.546G>T:p.Thr182=	coding	Benign/Likely_benign
21	43421939	G	C	G43421939C	SIK1	NM_173354.5(SIK1):c.337+35C>G	noncoding	Benign
21	43422065	C	T	C43422065T	SIK1	NM_173354.5(SIK1):c.274-28G>A	noncoding	Benign
21	43426005	C	G	C43426005G	SIK1	NM_173354.5(SIK1):c.156+18G>C	noncoding	Benign
21	43426008	A	G	A43426008G	SIK1	NM_173354.5(SIK1):c.156+15T>C	noncoding	Benign
21	43426149	G	A	G43426149A	SIK1	NM_173354.5(SIK1):c.30C>T:p.Asp10=	coding	Benign
21	43630396	G	A	G43630396A	HSF2BP	NM_007031.2(HSF2BP):c.500C>T:p.Ser167Leu	coding	Pathogenic
21	43719049	G	T	G43719049T	PDXK	Single_allele	noncoding	Benign
21	43719132	A	G	A43719132G	PDXK	NM_003681.5(PDXK):c.-163A>G	noncoding	Benign
21	43733870	A	G	A43733870G	PDXK	NM_003681.5(PDXK):c.88-199A>G	noncoding	Benign
21	43734263	C	T	C43734263T	PDXK	NM_003681.5(PDXK):c.142+140C>T	noncoding	Benign
21	43741465	G	A	G43741465A	PDXK	NM_003681.5(PDXK):c.143-202G>A	noncoding	Benign
21	43741551	A	G	A43741551G	PDXK	NM_003681.5(PDXK):c.143-116A>G	noncoding	Benign
21	43741969	T	C	T43741969C	PDXK	NM_003681.5(PDXK):c.247+198T>C	noncoding	Benign
21	43743833	T	G	T43743833G	PDXK	NM_003681.5(PDXK):c.331+26T>G	noncoding	Benign
21	43743885	G	A	G43743885A	PDXK	NM_003681.5(PDXK):c.331+78G>A	noncoding	Benign
21	43743986	G	T	G43743986T	PDXK	NM_003681.5(PDXK):c.331+179G>T	noncoding	Benign
21	43748828	T	C	T43748828C	PDXK	NM_003681.5(PDXK):c.379-167T>C	noncoding	Benign
21	43749003	G	A	G43749003A	PDXK	NM_003681.5(PDXK):c.387G>A:p.Pro129=	coding	Benign
21	43749124	A	G	A43749124G	PDXK	NM_003681.5(PDXK):c.464+44A>G	noncoding	Benign
21	43750404	A	G	A43750404G	PDXK	NM_003681.5(PDXK):c.465-96A>G	noncoding	Benign
21	43752498	G	A	G43752498A	PDXK	NM_003681.5(PDXK):c.511-20G>A	noncoding	Benign
21	43752747	G	A	G43752747A	PDXK	NM_003681.5(PDXK):c.622+118G>A	noncoding	Benign
21	43753350	C	A	C43753350A	PDXK	NM_003681.5(PDXK):c.623-233C>A	noncoding	Benign
21	43753599	C	T	C43753599T	PDXK	NM_003681.5(PDXK):c.639C>T:p.Ser213=	coding	Benign
21	43753824	T	C	T43753824C	PDXK	NM_003681.5(PDXK):c.759+105T>C	noncoding	Benign
21	43755489	G	A	G43755489A	PDXK	NM_003681.5(PDXK):c.760-209G>A	noncoding	Benign
21	43755690	C	A	C43755690A	PDXK	NM_003681.5(PDXK):c.760-8C>A	noncoding	Benign
21	43756077	T	C	T43756077C	PDXK	NM_003681.5(PDXK):c.*14T>C	noncoding	Benign
21	43776481	A	G	A43776481G	CSTB	Single_allele	noncoding	Benign
21	44089849	C	T	C44089849T	TRAPPC10	NM_003274.5(TRAPPC10):c.2786C>T:p.Pro929Leu	coding	Pathogenic/Likely_pathogenic
21	44229064	A	G	A44229064G	ICOSLG	NM_015259.6(ICOSLG):c.899-20T>C	noncoding	Benign
21	44231374	C	T	C44231374T	ICOSLG	NM_015259.6(ICOSLG):c.768G>A:p.Thr256=	coding	Benign
21	44235498	C	A	C44235498A	ICOSLG	NM_015259.6(ICOSLG):c.471G>T:p.Thr157=	coding	Benign
21	44236891	C	T	C44236891T	ICOSLG	NM_015259.6(ICOSLG):c.382G>A:p.Val128Ile	coding	Benign
21	44237045	C	T	C44237045T	ICOSLG	NM_015259.6(ICOSLG):c.228G>A:p.Val76=	coding	Benign
21	44237192	C	T	C44237192T	ICOSLG	NM_015259.6(ICOSLG):c.81G>A:p.Ala27=	coding	Benign
21	44237236	T	A	T44237236A	ICOSLG	NM_015259.6(ICOSLG):c.56-19A>T	noncoding	Benign
21	44285603	G	C	G44285603C	AIRE	Single_allele	noncoding	Benign
21	44285777	T	C	T44285777C	AIRE	NC_000021.8:g.45705660T>C	noncoding	Benign
21	44285930	C	A	C44285930A	AIRE	NM_000383.4(AIRE):c.-77C>A	noncoding	Benign
21	44285966	C	A	C44285966A	AIRE	NM_000383.4(AIRE):c.-41C>A	noncoding	Benign
21	44286008	T	A	T44286008A	AIRE	NM_000383.4(AIRE):c.2T>A:p.Met1Lys	coding	Pathogenic
21	44286008	T	G	T44286008G	AIRE	NM_000383.4(AIRE):c.2T>G:p.Met1Arg	coding	Pathogenic
21	44286050	G	T	G44286050T	AIRE	NM_000383.4(AIRE):c.44G>T:p.Arg15Leu	coding	Pathogenic
21	44286068	C	T	C44286068T	AIRE	NM_000383.4(AIRE):c.62C>T:p.Ala21Val	coding	Pathogenic/Likely_pathogenic
21	44286466	C	T	C44286466T	AIRE	NM_000383.4(AIRE):c.133-91C>T	noncoding	Benign
21	44286629	C	T	C44286629T	AIRE	NM_000383.4(AIRE):c.205C>T:p.Gln69Ter	coding	Pathogenic
21	44286855	T	C	T44286855C	AIRE	NM_000383.4(AIRE):c.308-123T>C	noncoding	Benign
21	44287010	A	T	A44287010T	AIRE	NM_000383.4(AIRE):c.340A>T:p.Lys114Ter	coding	Pathogenic
21	44287133	G	A	G44287133A	AIRE	NM_000383.4(AIRE):c.463G>A:p.Gly155Ser	coding	Pathogenic/Likely_pathogenic
21	44287642	G	T	G44287642T	AIRE	NM_000383.4(AIRE):c.538+51G>T	noncoding	Benign
21	44288093	T	C	T44288093C	AIRE	NM_000383.4(AIRE):c.539-252T>C	noncoding	Benign
21	44288138	T	A	T44288138A	AIRE	NM_000383.4(AIRE):c.539-207T>A	noncoding	Benign
21	44288366	C	G	C44288366G	AIRE	NM_000383.4(AIRE):c.560C>G:p.Ser187Ter	coding	Pathogenic
21	44289355	G	A	G44289355A	AIRE	NM_000383.4(AIRE):c.653-302G>A	noncoding	Benign
21	44289456	C	T	C44289456T	AIRE	NM_000383.4(AIRE):c.653-201C>T	noncoding	Benign
21	44289512	C	T	C44289512T	AIRE	NM_000383.4(AIRE):c.653-145C>T	noncoding	Benign
21	44289788	C	T	C44289788T	AIRE	NM_000383.4(AIRE):c.784C>T:p.Gln262Ter	coding	Pathogenic
21	44290169	G	A	G44290169A	AIRE	NM_000383.4(AIRE):c.879+101G>A	noncoding	Benign
21	44290224	T	C	T44290224C	AIRE	NM_000383.4(AIRE):c.879+156T>C	noncoding	Benign
21	44290527	C	G	C44290527G	AIRE	NM_000383.4(AIRE):c.879+459C>G	noncoding	Benign
21	44290645	G	C	G44290645C	AIRE	NM_000383.4(AIRE):c.880-450G>C	noncoding	Benign
21	44290798	G	A	G44290798A	AIRE	NM_000383.4(AIRE):c.880-297G>A	noncoding	Benign
21	44291077	G	A	G44291077A	AIRE	NM_000383.4(AIRE):c.880-18G>A	noncoding	Benign
21	44291319	A	G	A44291319G	AIRE	NM_000383.4(AIRE):c.995+109A>G	noncoding	Benign
21	44291349	G	T	G44291349T	AIRE	NM_000383.4(AIRE):c.995+139G>T	noncoding	Benign
21	44292284	T	C	T44292284C	AIRE	NM_000383.4(AIRE):c.996-18T>C	noncoding	Benign
21	44292295	C	T	C44292295T	AIRE	NM_000383.4(AIRE):c.996-7C>T	noncoding	Benign
21	44292403	T	C	T44292403C	AIRE	NM_000383.4(AIRE):c.1095+2T>C	noncoding	Pathogenic
21	44292705	G	A	G44292705A	AIRE	NM_000383.4(AIRE):c.1096-288G>A	noncoding	Benign
21	44293079	C	A	C44293079A	AIRE	NM_000383.4(AIRE):c.1182C>A:p.Tyr394Ter	coding	Pathogenic
21	44293187	G	A	G44293187A	AIRE	NM_000383.4(AIRE):c.1278+12G>A	noncoding	Benign
21	44293454	G	A	G44293454A	AIRE	NM_000383.4(AIRE):c.1278+279G>A	noncoding	Benign
21	44294373	G	C	G44294373C	AIRE	NM_000383.4(AIRE):c.1401-28G>C	noncoding	Benign
21	44294429	G	T	G44294429T	AIRE	NM_000383.4(AIRE):c.1429G>T:p.Gly477Ter	coding	Pathogenic
21	44294637	T	A	T44294637A	AIRE	NM_000383.4(AIRE):c.1503+134T>A	noncoding	Benign
21	44294637	T	C	T44294637C	AIRE	NM_000383.4(AIRE):c.1503+134T>C	noncoding	Benign
21	44294739	G	A	G44294739A	AIRE	NM_000383.4(AIRE):c.1503+236G>A	noncoding	Benign
21	44296108	G	A	G44296108A	AIRE	NM_000383.4(AIRE):c.1504-275G>A	noncoding	Benign
21	44296252	G	A	G44296252A	AIRE	NM_000383.4(AIRE):c.1504-131G>A	noncoding	Benign
21	44296316	T	C	T44296316C	AIRE	NM_000383.4(AIRE):c.1504-67T>C	noncoding	Benign
21	44296328	A	G	A44296328G	AIRE	NM_000383.4(AIRE):c.1504-55A>G	noncoding	Benign
21	44296649	T	C	T44296649C	AIRE	NM_000383.4(AIRE):c.1566+204T>C	noncoding	Benign
21	44296665	G	A	G44296665A	AIRE	NM_000383.4(AIRE):c.1566+220G>A	noncoding	Benign
21	44297364	G	A	G44297364A	AIRE	NM_000383.4(AIRE):c.1567-292G>A	noncoding	Benign
21	44297529	G	A	G44297529A	AIRE	NM_000383.4(AIRE):c.1567-127G>A	noncoding	Benign
21	44297806	C	G	C44297806G	AIRE	NM_000383.4(AIRE):c.*79C>G	noncoding	Benign
21	44330063	C	T	C44330063T	CFAP410	NM_004928.3(CFAP410):c.*135G>A	noncoding	Benign
21	44330165	C	T	C44330165T	CFAP410	NM_004928.3(CFAP410):c.*33G>A	noncoding	Benign
21	44330168	G	A	G44330168A	CFAP410	NM_004928.3(CFAP410):c.*30C>T	noncoding	Benign
21	44330365	G	A	G44330365A	CFAP410	NM_004928.3(CFAP410):c.643-39C>T	noncoding	Benign
21	44330463	C	A	C44330463A	CFAP410	NM_004928.3(CFAP410):c.643-137G>T	coding	Benign
21	44330561	C	T	C44330561T	CFAP410	NM_004928.3(CFAP410):c.643-235G>A	coding	Benign
21	44330821	A	G	A44330821G	CFAP410	NM_004928.3(CFAP410):c.642+2T>C	coding	Pathogenic
21	44330830	C	T	C44330830T	CFAP410	NM_004928.3(CFAP410):c.635G>A:p.Arg212Lys	coding	Benign
21	44332007	C	T	C44332007T	CFAP410	NM_004928.3(CFAP410):c.381G>A:p.Thr127=	coding	Benign
21	44332197	C	A	C44332197A	CFAP410	NM_004928.3(CFAP410):c.374-183G>T	noncoding	Benign
21	44332802	C	G	C44332802G	CFAP410	NM_004928.3(CFAP410):c.373+231G>C	noncoding	Benign
21	44333023	G	A	G44333023A	CFAP410	NM_004928.3(CFAP410):c.373+10C>T	noncoding	Benign
21	44333056	C	T	C44333056T	CFAP410	NM_004928.3(CFAP410):c.350G>A:p.Arg117His	coding	Benign
21	44333385	T	C	T44333385C	CFAP410	NM_004928.3(CFAP410):c.144-123A>G	noncoding	Benign
21	44333391	G	A	G44333391A	CFAP410	NM_004928.3(CFAP410):c.144-129C>T	noncoding	Benign
21	44333420	T	C	T44333420C	CFAP410	NM_004928.3(CFAP410):c.144-158A>G	noncoding	Benign
21	44335925	G	A	G44335925A	CFAP410	NM_004928.3(CFAP410):c.97-121C>T	noncoding	Benign
21	44337477	T	C	T44337477C	CFAP410	NM_004928.3(CFAP410):c.96+172A>G	noncoding	Benign
21	44337648	C	T	C44337648T	CFAP410	NM_004928.3(CFAP410):c.96+1G>A	noncoding	Pathogenic
21	44337748	G	A	G44337748A	CFAP410	NM_004928.3(CFAP410):c.78-81C>T	noncoding	Benign
21	44339083	C	A	C44339083A	CFAP410	NM_004928.3(CFAP410):c.77+35G>T	noncoding	Benign
21	44339149	C	A	C44339149A	CFAP410	NM_004928.3(CFAP410):c.46G>T:p.Glu16Ter	coding	Pathogenic
21	44339314	G	C	G44339314C	CFAP410	NM_004928.3(CFAP410):c.-120C>G	noncoding	Benign
21	44339472	T	C	T44339472C	CFAP410	Single_allele	noncoding	Benign
21	44339603	G	A	G44339603A	CFAP410	Single_allele	noncoding	Benign
21	44339627	A	G	A44339627G	CFAP410	Single_allele	noncoding	Benign
21	44378060	C	A	C44378060A	TRPM2	NM_003307.4(TRPM2):c.1014+287C>A	noncoding	Benign
21	44395692	G	A	G44395692A	TRPM2	NM_003307.4(TRPM2):c.1932+141G>A	noncoding	Benign
21	44397737	T	C	T44397737C	TRPM2	NM_003307.4(TRPM2):c.1933-10T>C	noncoding	Benign
21	44400094	A	G	A44400094G	TRPM2	NM_003307.4(TRPM2):c.2209-165A>G	noncoding	Benign
21	44401646	T	C	T44401646C	TRPM2	NM_003307.4(TRPM2):c.2322-35T>C	noncoding	Benign
21	44401911	C	T	C44401911T	TRPM2	NM_003307.4(TRPM2):c.2538+14C>T	noncoding	Benign
21	44405579	T	G	T44405579G	TRPM2	NM_003307.4(TRPM2):c.2657+319T>G	noncoding	Benign
21	44406092	G	A	G44406092A	TRPM2	NM_003307.4(TRPM2):c.2790+55G>A	noncoding	Benign
21	44406551	C	T	C44406551T	TRPM2	NM_003307.4(TRPM2):c.2791-43C>T	noncoding	Benign
21	44406579	C	A	C44406579A	TRPM2	NM_003307.4(TRPM2):c.2791-15C>A	noncoding	Benign
21	44414142	T	C	T44414142C	TRPM2	NM_003307.4(TRPM2):c.3146+68T>C	noncoding	Benign
21	44414339	A	T	A44414339T	TRPM2	NM_003307.4(TRPM2):c.3146+265A>T	noncoding	Benign
21	44417907	T	C	T44417907C	TRPM2	NM_003307.4(TRPM2):c.3147-20T>C	noncoding	Benign
21	44418749	C	T	C44418749T	TRPM2	NM_003307.4(TRPM2):c.3461+194C>T	noncoding	Benign
21	44424718	C	T	C44424718T	TRPM2	NM_003307.4(TRPM2):c.3550-134C>T	noncoding	Benign
21	44425924	C	T	C44425924T	TRPM2	NM_003307.4(TRPM2):c.3795+97C>T	noncoding	Benign
21	44434857	C	T	C44434857T	TRPM2	NM_003307.4(TRPM2):c.3975-274C>T	noncoding	Benign
21	44434924	G	A	G44434924A	TRPM2	NM_003307.4(TRPM2):c.3975-207G>A	noncoding	Benign
21	44435042	G	A	G44435042A	TRPM2	NM_003307.4(TRPM2):c.3975-89G>A	noncoding	Benign
21	44441029	G	A	G44441029A	TRPM2	NM_003307.4(TRPM2):c.4386+124G>A	noncoding	Benign
21	44441907	T	C	T44441907C	TRPM2	NM_003307.4(TRPM2):c.*90T>C	noncoding	Benign
21	44522224	G	A	G44522224A	TSPEAR	NM_144991.3(TSPEAR):c.1337-112C>T	noncoding	Benign
21	44522228	A	G	A44522228G	TSPEAR	NM_144991.3(TSPEAR):c.1337-116T>C	noncoding	Benign
21	44522232	G	A	G44522232A	TSPEAR	NM_144991.3(TSPEAR):c.1337-120C>T	noncoding	Benign
21	44522357	T	C	T44522357C	TSPEAR	NM_144991.3(TSPEAR):c.1337-245A>G	noncoding	Benign
21	44525628	G	A	G44525628A	TSPEAR	NM_144991.3(TSPEAR):c.1336+25C>T	noncoding	Benign
21	44525708	C	T	C44525708T	TSPEAR	NM_144991.3(TSPEAR):c.1281G>A:p.Trp427Ter	coding	Pathogenic
21	44525859	G	A	G44525859A	TSPEAR	NM_144991.3(TSPEAR):c.1150-20C>T	noncoding	Benign/Likely_benign
21	44527074	C	T	C44527074T	TSPEAR	NM_144991.3(TSPEAR):c.1149+218G>A	noncoding	Benign
21	44527151	T	C	T44527151C	TSPEAR	NM_144991.3(TSPEAR):c.1149+141A>G	noncoding	Benign
21	44527228	C	T	C44527228T	TSPEAR	NM_144991.3(TSPEAR):c.1149+64G>A	noncoding	Benign
21	44527402	G	T	G44527402T	TSPEAR	NM_144991.3(TSPEAR):c.1039C>A:p.Arg347Ser	coding	Benign
21	44527535	T	C	T44527535C	TSPEAR	NM_144991.3(TSPEAR):c.923-17A>G	noncoding	Benign
21	44527584	G	A	G44527584A	TSPEAR	NM_144991.3(TSPEAR):c.923-66C>T	noncoding	Benign
21	44527801	T	C	T44527801C	TSPEAR	NM_144991.3(TSPEAR):c.923-283A>G	noncoding	Benign
21	44528171	G	A	G44528171A	TSPEAR	NM_144991.3(TSPEAR):c.922+281C>T	noncoding	Benign
21	44528188	A	G	A44528188G	TSPEAR	NM_144991.3(TSPEAR):c.922+264T>C	noncoding	Benign
21	44528398	C	T	C44528398T	TSPEAR	NM_144991.3(TSPEAR):c.922+54G>A	noncoding	Benign
21	44528640	C	T	C44528640T	TSPEAR	NM_144991.3(TSPEAR):c.791-57G>A	noncoding	Benign
21	44528746	C	T	C44528746T	TSPEAR	NM_144991.3(TSPEAR):c.791-163G>A	noncoding	Benign
21	44529656	A	G	A44529656G	TSPEAR	NM_144991.3(TSPEAR):c.790+142T>C	noncoding	Benign
21	44529758	A	G	A44529758G	TSPEAR	NM_144991.3(TSPEAR):c.790+40T>C	noncoding	Benign
21	44529799	A	C	A44529799C	TSPEAR	NM_144991.3(TSPEAR):c.789T>G:p.Tyr263Ter	coding	Pathogenic
21	44530116	T	C	T44530116C	TSPEAR	NM_144991.3(TSPEAR):c.634-162A>G	noncoding	Benign
21	44530880	A	G	A44530880G	TSPEAR	NM_144991.3(TSPEAR):c.633+163T>C	noncoding	Benign
21	44530903	G	A	G44530903A	TSPEAR	NM_144991.3(TSPEAR):c.633+140C>T	noncoding	Benign
21	44530919	C	T	C44530919T	TSPEAR	NM_144991.3(TSPEAR):c.633+124G>A	noncoding	Benign
21	44530925	A	G	A44530925G	TSPEAR	NM_144991.3(TSPEAR):c.633+118T>C	noncoding	Benign
21	44531178	A	G	A44531178G	TSPEAR	NM_144991.3(TSPEAR):c.543-45T>C	noncoding	Benign
21	44531203	A	G	A44531203G	TSPEAR	NM_144991.3(TSPEAR):c.543-70T>C	noncoding	Benign
21	44531235	T	C	T44531235C	TSPEAR	NM_144991.3(TSPEAR):c.543-102A>G	noncoding	Benign
21	44533405	G	A	G44533405A	TSPEAR	NM_144991.3(TSPEAR):c.542+280C>T	noncoding	Benign
21	44533812	C	T	C44533812T	TSPEAR	NM_144991.3(TSPEAR):c.415G>A:p.Gly139Ser	coding	Benign/Likely_benign
21	44533816	C	T	C44533816T	TSPEAR	NM_144991.3(TSPEAR):c.411G>A:p.Thr137=	coding	Benign/Likely_benign
21	44533870	G	A	G44533870A	TSPEAR	NM_144991.3(TSPEAR):c.357C>T:p.Leu119=	coding	Benign/Likely_benign
21	44567754	T	G	T44567754G	TSPEAR	NM_144991.3(TSPEAR):c.303+31A>C	noncoding	Benign
21	44600806	A	G	A44600806G	TSPEAR	NM_144991.3(TSPEAR):c.83-32801T>C	coding	Benign
21	44711443	C	T	C44711443T	TSPEAR	NM_144991.3(TSPEAR):c.72G>A:p.Glu24=	coding	Benign
21	44711886	G	T	G44711886T	TSPEAR	Single_allele	noncoding	Benign
21	44886692	C	T	C44886692T	ITGB2	NM_000211.5(ITGB2):c.2247+44G>A	noncoding	Benign
21	44888526	C	T	C44888526T	ITGB2	NM_000211.5(ITGB2):c.2080+167G>A	noncoding	Benign
21	44888841	G	A	G44888841A	ITGB2	NM_000211.5(ITGB2):c.1932C>T:p.Ser644=	coding	Benign
21	44888980	A	G	A44888980G	ITGB2	NM_000211.5(ITGB2):c.1878-85T>C	noncoding	Benign
21	44889071	T	C	T44889071C	ITGB2	NM_000211.5(ITGB2):c.1878-176A>G	noncoding	Benign
21	44889514	C	T	C44889514T	ITGB2	NM_000211.5(ITGB2):c.1658-19G>A	noncoding	Benign
21	44889977	C	A	C44889977A	ITGB2	NM_000211.5(ITGB2):c.1657+1G>T	noncoding	Pathogenic
21	44890144	G	T	G44890144T	ITGB2	NM_000211.5(ITGB2):c.1491C>A:p.Cys497Ter	coding	Pathogenic
21	44890304	T	C	T44890304C	ITGB2	NM_000211.5(ITGB2):c.1413-82A>G	noncoding	Benign
21	44892103	G	A	G44892103A	ITGB2	NM_000211.5(ITGB2):c.1225-107C>T	noncoding	Benign
21	44892197	G	T	G44892197T	ITGB2	NM_000211.5(ITGB2):c.1225-201C>A	noncoding	Benign
21	44893225	C	T	C44893225T	ITGB2	NM_000211.5(ITGB2):c.1224+179G>A	noncoding	Benign
21	44893226	A	T	A44893226T	ITGB2	NM_000211.5(ITGB2):c.1224+178T>A	noncoding	Benign
21	44899025	A	G	A44899025G	ITGB2	NM_000211.5(ITGB2):c.993+42T>C	noncoding	Benign
21	44900008	G	A	G44900008A	ITGB2	NM_000211.5(ITGB2):c.897+312C>T	noncoding	Benign
21	44900050	G	C	G44900050C	ITGB2	NM_000211.5(ITGB2):c.897+270C>G	noncoding	Benign
21	44901257	C	T	C44901257T	ITGB2	NM_000211.5(ITGB2):c.741+235G>A	noncoding	Benign
21	44901292	G	A	G44901292A	ITGB2	NM_000211.5(ITGB2):c.741+200C>T	noncoding	Benign
21	44901311	C	T	C44901311T	ITGB2	NM_000211.5(ITGB2):c.741+181G>A	noncoding	Benign
21	44901473	G	A	G44901473A	ITGB2	NM_000211.5(ITGB2):c.741+19C>T	noncoding	Benign
21	44901617	G	A	G44901617A	ITGB2	NM_000211.5(ITGB2):c.616C>T:p.His206Tyr	coding	Pathogenic
21	44901762	G	A	G44901762A	ITGB2	NM_000211.5(ITGB2):c.500-29C>T	noncoding	Benign
21	44901903	A	G	A44901903G	ITGB2	NM_000211.5(ITGB2):c.500-170T>C	noncoding	Benign
21	44902032	G	A	G44902032A	ITGB2	NM_000211.5(ITGB2):c.500-299C>T	noncoding	Benign
21	44903608	G	A	G44903608A	ITGB2	NM_000211.5(ITGB2):c.329-73C>T	noncoding	Benign
21	44903816	T	C	T44903816C	ITGB2	NM_000211.5(ITGB2):c.329-281A>G	noncoding	Benign
21	44906663	C	T	C44906663T	ITGB2	NM_000211.5(ITGB2):c.328+252G>A	noncoding	Benign
21	44906734	G	A	G44906734A	ITGB2	NM_000211.5(ITGB2):c.328+181C>T	noncoding	Benign
21	44907113	G	A	G44907113A	ITGB2	NM_000211.5(ITGB2):c.148-18C>T	noncoding	Benign
21	44907226	C	T	C44907226T	ITGB2	NM_000211.5(ITGB2):c.148-131G>A	noncoding	Benign
21	44907372	G	A	G44907372A	ITGB2	NM_000211.5(ITGB2):c.148-277C>T	noncoding	Benign
21	44910268	T	C	T44910268C	ITGB2	NM_000211.5(ITGB2):c.147+16A>G	noncoding	Benign
21	45222053	G	A	G45222053A	ADARB1	NM_001112.4(ADARB1):c.1962G>A:p.Lys654=	coding	Benign
21	45405102	G	C	G45405102C	COL18A1	Single_allele	noncoding	Benign
21	45405113	G	C	G45405113C	COL18A1	Single_allele	noncoding	Benign
21	45405299	G	C	G45405299C	COL18A1	NM_001379500.1(COL18A1):c.11+58G>C	noncoding	Benign
21	45405308	G	C	G45405308C	COL18A1	NM_001379500.1(COL18A1):c.11+67G>C	noncoding	Benign
21	45405314	C	G	C45405314G	COL18A1	NM_001379500.1(COL18A1):c.12-65C>G	noncoding	Benign
21	45405320	C	T	C45405320T	COL18A1	NM_001379500.1(COL18A1):c.12-59C>T	noncoding	Benign
21	45405352	G	T	G45405352T	COL18A1	NM_001379500.1(COL18A1):c.12-27G>T	noncoding	Benign
21	45405377	A	T	A45405377T	COL18A1	NM_001379500.1(COL18A1):c.12-2A>T	noncoding	Pathogenic
21	45455280	C	T	C45455280T	COL18A1	NM_001379500.1(COL18A1):c.107-12962C>T	noncoding	Benign
21	45455672	C	G	C45455672G	COL18A1	NM_001379500.1(COL18A1):c.107-12570C>G	coding	Benign
21	45455676	A	T	A45455676T	COL18A1	NM_001379500.1(COL18A1):c.107-12566A>T	coding	Benign/Likely_benign
21	45455701	A	G	A45455701G	COL18A1	NM_001379500.1(COL18A1):c.107-12541A>G	coding	Benign
21	45455769	C	G	C45455769G	COL18A1	NM_001379500.1(COL18A1):c.107-12473C>G	coding	Benign
21	45455860	C	T	C45455860T	COL18A1	NM_001379500.1(COL18A1):c.107-12382C>T	coding	Benign
21	45455878	C	T	C45455878T	COL18A1	NM_001379500.1(COL18A1):c.107-12364C>T	coding	Benign
21	45455960	G	A	G45455960A	COL18A1	NM_001379500.1(COL18A1):c.107-12282G>A	coding	Benign
21	45456068	G	A	G45456068A	COL18A1	NM_001379500.1(COL18A1):c.107-12174G>A	coding	Benign
21	45456090	C	T	C45456090T	COL18A1	NM_001379500.1(COL18A1):c.107-12152C>T	coding	Benign
21	45456121	C	T	C45456121T	COL18A1	NM_001379500.1(COL18A1):c.107-12121C>T	coding	Benign
21	45456259	C	T	C45456259T	COL18A1	NM_001379500.1(COL18A1):c.107-11983C>T	coding	Benign
21	45456392	G	A	G45456392A	COL18A1	NM_001379500.1(COL18A1):c.107-11850G>A	coding	Benign
21	45456666	C	T	C45456666T	COL18A1	NM_001379500.1(COL18A1):c.107-11576C>T	coding	Benign
21	45456705	T	C	T45456705C	COL18A1	NM_001379500.1(COL18A1):c.107-11537T>C	coding	Benign
21	45456755	T	C	T45456755C	COL18A1	NM_001379500.1(COL18A1):c.107-11487T>C	coding	Benign
21	45456803	G	C	G45456803C	COL18A1	NM_001379500.1(COL18A1):c.107-11439G>C	coding	Benign
21	45468065	A	T	A45468065T	COL18A1	NM_001379500.1(COL18A1):c.107-177A>T	noncoding	Benign
21	45468074	G	A	G45468074A	COL18A1	NM_001379500.1(COL18A1):c.107-168G>A	noncoding	Benign
21	45468471	G	A	G45468471A	COL18A1	NM_001379500.1(COL18A1):c.336G>A:p.Thr112=	coding	Benign
21	45468616	C	T	C45468616T	COL18A1	NM_001379500.1(COL18A1):c.481C>T:p.Gln161Ter	coding	Pathogenic
21	45468696	G	A	G45468696A	COL18A1	NM_001379500.1(COL18A1):c.561G>A:p.Pro187=	coding	Benign
21	45468739	G	A	G45468739A	COL18A1	NM_001379500.1(COL18A1):c.604G>A:p.Gly202Arg	coding	Benign/Likely_benign
21	45468915	G	T	G45468915T	COL18A1	NM_001379500.1(COL18A1):c.651+129G>T	noncoding	Benign
21	45468935	C	T	C45468935T	COL18A1	NM_001379500.1(COL18A1):c.651+149C>T	noncoding	Benign
21	45468936	T	C	T45468936C	COL18A1	NM_001379500.1(COL18A1):c.651+150T>C	noncoding	Benign
21	45468965	C	T	C45468965T	COL18A1	NM_001379500.1(COL18A1):c.651+179C>T	noncoding	Benign
21	45474000	A	C	A45474000C	COL18A1	NM_001379500.1(COL18A1):c.738+19A>C	noncoding	Benign
21	45474001	C	T	C45474001T	COL18A1	NM_001379500.1(COL18A1):c.738+20C>T	noncoding	Benign
21	45474088	C	T	C45474088T	COL18A1	NM_001379500.1(COL18A1):c.738+107C>T	noncoding	Benign
21	45475496	C	T	C45475496T	COL18A1	NM_001379500.1(COL18A1):c.759C>T:p.Ser253=	coding	Benign
21	45475517	G	C	G45475517C	COL18A1	NM_001379500.1(COL18A1):c.780G>C:p.Glu260Asp	coding	Benign/Likely_benign
21	45475593	G	A	G45475593A	COL18A1	NM_001379500.1(COL18A1):c.798+58G>A	noncoding	Benign
21	45476444	G	T	G45476444T	COL18A1	NM_001379500.1(COL18A1):c.892G>T:p.Glu298Ter	coding	Pathogenic
21	45476544	T	G	T45476544G	COL18A1	NM_001379500.1(COL18A1):c.928+64T>G	noncoding	Benign
21	45476575	T	G	T45476575G	COL18A1	NM_001379500.1(COL18A1):c.928+95T>G	noncoding	Benign
21	45477300	C	T	C45477300T	COL18A1	NM_001379500.1(COL18A1):c.929-111C>T	noncoding	Benign
21	45477307	C	T	C45477307T	COL18A1	NM_001379500.1(COL18A1):c.929-104C>T	noncoding	Benign
21	45477339	T	C	T45477339C	COL18A1	NM_001379500.1(COL18A1):c.929-72T>C	noncoding	Benign
21	45477407	C	A	C45477407A	COL18A1	NM_001379500.1(COL18A1):c.929-4C>A	noncoding	Benign
21	45477409	A	G	A45477409G	COL18A1	NM_001379500.1(COL18A1):c.929-2A>G	noncoding	Pathogenic
21	45477448	G	A	G45477448A	COL18A1	NM_001379500.1(COL18A1):c.966G>A:p.Trp322Ter	coding	Pathogenic
21	45477466	C	A	C45477466A	COL18A1	NM_001379500.1(COL18A1):c.984C>A:p.Thr328=	coding	Benign
21	45477929	G	A	G45477929A	COL18A1	NM_001379500.1(COL18A1):c.1185G>A:p.Pro395=	coding	Benign
21	45477947	T	C	T45477947C	COL18A1	NM_001379500.1(COL18A1):c.1203T>C:p.Pro401=	coding	Benign
21	45478260	T	C	T45478260C	COL18A1	NM_001379500.1(COL18A1):c.1222-67T>C	noncoding	Benign
21	45479758	G	A	G45479758A	COL18A1	NM_001379500.1(COL18A1):c.1249-144G>A	noncoding	Benign
21	45479764	G	C	G45479764C	COL18A1	NM_001379500.1(COL18A1):c.1249-138G>C	noncoding	Benign
21	45479809	T	C	T45479809C	COL18A1	NM_001379500.1(COL18A1):c.1249-93T>C	noncoding	Benign
21	45479885	C	T	C45479885T	COL18A1	NM_001379500.1(COL18A1):c.1249-17C>T	noncoding	Benign
21	45479910	C	A	C45479910A	COL18A1	NM_001379500.1(COL18A1):c.1257C>A:p.Thr419=	coding	Benign
21	45479982	G	A	G45479982A	COL18A1	NM_001379500.1(COL18A1):c.1311+18G>A	noncoding	Benign
21	45480039	A	G	A45480039G	COL18A1	NM_001379500.1(COL18A1):c.1312-31A>G	noncoding	Benign
21	45480186	C	T	C45480186T	COL18A1	NM_001379500.1(COL18A1):c.1398+30C>T	noncoding	Benign
21	45480300	G	A	G45480300A	COL18A1	NM_001379500.1(COL18A1):c.1398+144G>A	noncoding	Benign
21	45480335	C	T	C45480335T	COL18A1	NM_001379500.1(COL18A1):c.1399-132C>T	noncoding	Benign
21	45480418	G	C	G45480418C	COL18A1	NM_001379500.1(COL18A1):c.1399-49G>C	noncoding	Benign
21	45480629	G	A	G45480629A	COL18A1	NM_001379500.1(COL18A1):c.1453-71G>A	noncoding	Benign
21	45480632	C	T	C45480632T	COL18A1	NM_001379500.1(COL18A1):c.1453-68C>T	noncoding	Benign
21	45480706	C	T	C45480706T	COL18A1	NM_001379500.1(COL18A1):c.1459C>T:p.Arg487Ter	coding	Pathogenic
21	45480942	C	T	C45480942T	COL18A1	NM_001379500.1(COL18A1):c.1611+84C>T	noncoding	Benign
21	45481019	A	G	A45481019G	COL18A1	NM_001379500.1(COL18A1):c.1611+161A>G	noncoding	Benign
21	45482042	G	C	G45482042C	COL18A1	NM_001379500.1(COL18A1):c.1674+17G>C	noncoding	Benign
21	45482149	A	G	A45482149G	COL18A1	NM_001379500.1(COL18A1):c.1674+124A>G	noncoding	Benign
21	45486713	C	T	C45486713T	COL18A1	NM_001379500.1(COL18A1):c.1702-148C>T	noncoding	Benign
21	45486776	A	G	A45486776G	COL18A1	NM_001379500.1(COL18A1):c.1702-85A>G	noncoding	Benign
21	45486796	C	T	C45486796T	COL18A1	NM_001379500.1(COL18A1):c.1702-65C>T	noncoding	Benign
21	45486797	G	A	G45486797A	COL18A1	NM_001379500.1(COL18A1):c.1702-64G>A	noncoding	Benign
21	45486841	G	A	G45486841A	COL18A1	NM_001379500.1(COL18A1):c.1702-20G>A	noncoding	Benign
21	45487046	A	G	A45487046G	COL18A1	NM_001379500.1(COL18A1):c.1833+54A>G	noncoding	Benign
21	45487170	C	T	C45487170T	COL18A1	NM_001379500.1(COL18A1):c.1833+178C>T	noncoding	Benign
21	45487373	C	T	C45487373T	COL18A1	NM_001379500.1(COL18A1):c.1834-74C>T	noncoding	Benign
21	45487431	C	T	C45487431T	COL18A1	NM_001379500.1(COL18A1):c.1834-16C>T	noncoding	Benign
21	45487528	C	T	C45487528T	COL18A1	NM_001379500.1(COL18A1):c.1896+19C>T	noncoding	Benign
21	45487565	G	A	G45487565A	COL18A1	NM_001379500.1(COL18A1):c.1896+56G>A	noncoding	Benign
21	45488189	C	G	C45488189G	COL18A1	NM_001379500.1(COL18A1):c.1897-229C>G	noncoding	Benign
21	45488655	C	T	C45488655T	COL18A1	NM_001379500.1(COL18A1):c.1923+211C>T	noncoding	Benign
21	45489602	G	A	G45489602A	COL18A1	NM_001379500.1(COL18A1):c.1959+81G>A	noncoding	Benign
21	45489612	T	C	T45489612C	COL18A1	NM_001379500.1(COL18A1):c.1959+91T>C	noncoding	Benign
21	45490187	G	A	G45490187A	COL18A1	NM_001379500.1(COL18A1):c.1960-88G>A	noncoding	Benign
21	45490253	G	A	G45490253A	COL18A1	NM_001379500.1(COL18A1):c.1960-22G>A	noncoding	Benign
21	45490407	T	C	T45490407C	COL18A1	NM_001379500.1(COL18A1):c.2031+61T>C	noncoding	Benign
21	45490438	C	G	C45490438G	COL18A1	NM_001379500.1(COL18A1):c.2031+92C>G	noncoding	Benign
21	45490439	C	T	C45490439T	COL18A1	NM_001379500.1(COL18A1):c.2031+93C>T	noncoding	Benign
21	45490451	T	C	T45490451C	COL18A1	NM_001379500.1(COL18A1):c.2031+105T>C	noncoding	Benign
21	45490484	G	A	G45490484A	COL18A1	NM_001379500.1(COL18A1):c.2031+138G>A	noncoding	Benign
21	45490494	C	G	C45490494G	COL18A1	NM_001379500.1(COL18A1):c.2031+148C>G	noncoding	Benign
21	45490495	C	T	C45490495T	COL18A1	NM_001379500.1(COL18A1):c.2031+149C>T	noncoding	Benign
21	45490500	C	T	C45490500T	COL18A1	NM_001379500.1(COL18A1):c.2031+154C>T	noncoding	Benign
21	45490501	T	C	T45490501C	COL18A1	NM_001379500.1(COL18A1):c.2031+155T>C	noncoding	Benign
21	45490512	G	A	G45490512A	COL18A1	NM_001379500.1(COL18A1):c.2031+166G>A	noncoding	Benign
21	45490729	C	T	C45490729T	COL18A1	NM_001379500.1(COL18A1):c.2032-107C>T	noncoding	Benign
21	45490827	T	A	T45490827A	COL18A1	NM_001379500.1(COL18A1):c.2032-9T>A	noncoding	Benign/Likely_benign
21	45491362	G	T	G45491362T	COL18A1	NM_001379500.1(COL18A1):c.2157+48G>T	noncoding	Benign
21	45491476	C	T	C45491476T	COL18A1	NM_001379500.1(COL18A1):c.2157+162C>T	noncoding	Benign
21	45492472	C	T	C45492472T	COL18A1	NM_001379500.1(COL18A1):c.2158-63C>T	noncoding	Benign
21	45492972	G	A	G45492972A	COL18A1	NM_001379500.1(COL18A1):c.2215-191G>A	noncoding	Benign
21	45493021	T	C	T45493021C	COL18A1	NM_001379500.1(COL18A1):c.2215-142T>C	noncoding	Benign
21	45493033	C	T	C45493033T	COL18A1	NM_001379500.1(COL18A1):c.2215-130C>T	noncoding	Benign
21	45493050	G	A	G45493050A	COL18A1	NM_001379500.1(COL18A1):c.2215-113G>A	noncoding	Benign
21	45493056	T	A	T45493056A	COL18A1	NM_001379500.1(COL18A1):c.2215-107T>A	noncoding	Benign
21	45493205	C	T	C45493205T	COL18A1	NM_001379500.1(COL18A1):c.2257C>T:p.Arg753Ter	coding	Pathogenic
21	45493272	G	C	G45493272C	COL18A1	NM_001379500.1(COL18A1):c.2277+47G>C	noncoding	Benign
21	45493386	G	A	G45493386A	COL18A1	NM_001379500.1(COL18A1):c.2278-115G>A	noncoding	Benign
21	45493396	C	G	C45493396G	COL18A1	NM_001379500.1(COL18A1):c.2278-105C>G	noncoding	Benign
21	45493582	G	C	G45493582C	COL18A1	NM_001379500.1(COL18A1):c.2352+7G>C	noncoding	Benign
21	45493600	G	A	G45493600A	COL18A1	NM_001379500.1(COL18A1):c.2352+25G>A	noncoding	Benign
21	45493697	T	C	T45493697C	COL18A1	NM_001379500.1(COL18A1):c.2352+122T>C	noncoding	Benign
21	45494347	G	A	G45494347A	COL18A1	NM_001379500.1(COL18A1):c.2353-198G>A	noncoding	Benign
21	45494348	C	T	C45494348T	COL18A1	NM_001379500.1(COL18A1):c.2353-197C>T	noncoding	Benign
21	45494349	T	C	T45494349C	COL18A1	NM_001379500.1(COL18A1):c.2353-196T>C	noncoding	Benign
21	45494528	C	T	C45494528T	COL18A1	NM_001379500.1(COL18A1):c.2353-17C>T	noncoding	Benign
21	45494560	C	T	C45494560T	COL18A1	NM_001379500.1(COL18A1):c.2368C>T:p.Arg790Ter	coding	Pathogenic
21	45494578	C	T	C45494578T	COL18A1	NM_001379500.1(COL18A1):c.2379+7C>T	noncoding	Benign/Likely_benign
21	45494662	C	T	C45494662T	COL18A1	NM_001379500.1(COL18A1):c.2379+91C>T	noncoding	Benign
21	45494728	A	G	A45494728G	COL18A1	NM_001379500.1(COL18A1):c.2380-134A>G	noncoding	Benign
21	45495241	G	C	G45495241C	COL18A1	NM_001379500.1(COL18A1):c.2434-117G>C	noncoding	Benign
21	45495614	G	A	G45495614A	COL18A1	NM_001379500.1(COL18A1):c.2508+182G>A	noncoding	Benign
21	45496588	A	G	A45496588G	COL18A1	NM_001379500.1(COL18A1):c.2577+20A>G	noncoding	Benign
21	45496861	G	C	G45496861C	COL18A1	NM_001379500.1(COL18A1):c.2578-189G>C	noncoding	Benign
21	45497121	C	T	C45497121T	COL18A1	NM_001379500.1(COL18A1):c.2620+29C>T	noncoding	Benign/Likely_benign
21	45497651	C	T	C45497651T	COL18A1	NM_001379500.1(COL18A1):c.2673C>T:p.Pro891=	coding	Benign
21	45503960	G	A	G45503960A	COL18A1	NM_001379500.1(COL18A1):c.2684-51G>A	noncoding	Benign
21	45503992	G	A	G45503992A	COL18A1	NM_001379500.1(COL18A1):c.2684-19G>A	noncoding	Benign
21	45504021	G	A	G45504021A	COL18A1	NM_001379500.1(COL18A1):c.2694G>A:p.Pro898=	coding	Benign/Likely_benign
21	45504034	C	T	C45504034T	COL18A1	NM_001379500.1(COL18A1):c.2707C>T:p.Gln903Ter	coding	Pathogenic
21	45504295	C	A	C45504295A	COL18A1	NM_001379500.1(COL18A1):c.2728-121C>A	noncoding	Benign
21	45504431	C	T	C45504431T	COL18A1	NM_001379500.1(COL18A1):c.2743C>T:p.Arg915Ter	coding	Pathogenic
21	45505017	G	A	G45505017A	COL18A1	NM_001379500.1(COL18A1):c.2869-117G>A	noncoding	Benign
21	45505063	C	T	C45505063T	COL18A1	NM_001379500.1(COL18A1):c.2869-71C>T	noncoding	Benign
21	45505120	G	A	G45505120A	COL18A1	NM_001379500.1(COL18A1):c.2869-14G>A	noncoding	Benign
21	45505182	C	T	C45505182T	COL18A1;SLC19A1	NM_001379500.1(COL18A1):c.2917C>T:p.Gln973Ter	coding	Pathogenic
21	45505226	C	T	C45505226T	COL18A1	NM_001379500.1(COL18A1):c.2961C>T:p.Pro987=	coding	Benign
21	45505247	G	C	G45505247C	COL18A1	NM_001379500.1(COL18A1):c.2982G>C:p.Gly994=	coding	Benign/Likely_benign
21	45505281	A	C	A45505281C	COL18A1	NM_001379500.1(COL18A1):c.3013+3A>C	noncoding	Pathogenic
21	45505339	C	T	C45505339T	COL18A1	NM_001379500.1(COL18A1):c.3014-19C>T	noncoding	Benign
21	45505380	G	A	G45505380A	COL18A1	NM_001379500.1(COL18A1):c.3036G>A:p.Pro1012=	coding	Benign/Likely_benign
21	45505502	A	G	A45505502G	COL18A1	NM_001379500.1(COL18A1):c.3087+71A>G	noncoding	Benign
21	45505511	C	A	C45505511A	COL18A1	NM_001379500.1(COL18A1):c.3087+80C>A	noncoding	Benign
21	45505671	C	A	C45505671A	COL18A1	NM_001379500.1(COL18A1):c.3088-167C>A	noncoding	Benign
21	45505900	G	A	G45505900A	COL18A1	NM_001379500.1(COL18A1):c.3150G>A:p.Trp1050Ter	coding	Pathogenic
21	45505922	G	T	G45505922T	COL18A1	NM_001379500.1(COL18A1):c.3172G>T:p.Glu1058Ter	coding	Pathogenic
21	45505948	C	T	C45505948T	COL18A1	NM_001379500.1(COL18A1):c.3198C>T:p.Asn1066=	coding	Benign
21	45505984	C	T	C45505984T	COL18A1	NM_001379500.1(COL18A1):c.3216+18C>T	noncoding	Benign
21	45506053	C	T	C45506053T	COL18A1	NM_001379500.1(COL18A1):c.3216+87C>T	noncoding	Benign
21	45506088	C	G	C45506088G	COL18A1	NM_001379500.1(COL18A1):c.3216+122C>G	noncoding	Benign
21	45506140	T	C	T45506140C	COL18A1	NM_001379500.1(COL18A1):c.3216+174T>C	noncoding	Benign
21	45506179	G	A	G45506179A	COL18A1	NM_001379500.1(COL18A1):c.3216+213G>A	noncoding	Benign
21	45507585	C	T	C45507585T	COL18A1	NM_001379500.1(COL18A1):c.3241C>T:p.Arg1081Ter	coding	Pathogenic/Likely_pathogenic
21	45509170	G	A	G45509170A	COL18A1	NM_001379500.1(COL18A1):c.3250-186G>A	noncoding	Benign
21	45509180	A	G	A45509180G	COL18A1	NM_001379500.1(COL18A1):c.3250-176A>G	noncoding	Benign
21	45509370	C	T	C45509370T	COL18A1	NM_001379500.1(COL18A1):c.3264C>T:p.Ala1088=	coding	Benign
21	45509417	C	G	C45509417G	COL18A1	NM_001379500.1(COL18A1):c.3311C>G:p.Pro1104Arg	coding	Benign
21	45509420	G	A	G45509420A	COL18A1	NM_001379500.1(COL18A1):c.3314G>A:p.Arg1105Gln	coding	Benign/Likely_benign
21	45509458	G	A	G45509458A	COL18A1	NM_001379500.1(COL18A1):c.3352G>A:p.Ala1118Thr	coding	Benign/Likely_benign
21	45509475	C	T	C45509475T	COL18A1	NM_001379500.1(COL18A1):c.3369C>T:p.Ala1123=	coding	Benign
21	45509554	C	T	C45509554T	COL18A1	NM_001379500.1(COL18A1):c.3448C>T:p.Arg1150Ter	coding	Pathogenic
21	45509614	C	G	C45509614G	COL18A1	NM_001379500.1(COL18A1):c.3495+13C>G	noncoding	Benign
21	45509615	C	G	C45509615G	COL18A1	NM_001379500.1(COL18A1):c.3495+14C>G	noncoding	Benign
21	45509651	C	T	C45509651T	COL18A1	NM_001379500.1(COL18A1):c.3495+50C>T	noncoding	Benign
21	45509756	C	G	C45509756G	COL18A1	NM_001379500.1(COL18A1):c.3495+155C>G	noncoding	Benign
21	45509806	G	C	G45509806C	COL18A1	NM_001379500.1(COL18A1):c.3495+205G>C	noncoding	Benign
21	45509831	G	A	G45509831A	COL18A1	NM_001379500.1(COL18A1):c.3495+230G>A	noncoding	Benign
21	45510046	G	A	G45510046A	COL18A1	NM_001379500.1(COL18A1):c.3496-18G>A	noncoding	Benign
21	45510059	C	T	C45510059T	COL18A1	NM_001379500.1(COL18A1):c.3496-5C>T	noncoding	Benign
21	45510099	C	T	C45510099T	COL18A1	NM_001379500.1(COL18A1):c.3531C>T:p.Gly1177=	coding	Benign
21	45510130	C	T	C45510130T	COL18A1	NM_001379500.1(COL18A1):c.3562C>T:p.Gln1188Ter	coding	Pathogenic
21	45510177	C	T	C45510177T	COL18A1	NM_001379500.1(COL18A1):c.3609C>T:p.Arg1203=	coding	Benign
21	45510178	G	A	G45510178A	COL18A1	NM_001379500.1(COL18A1):c.3610G>A:p.Ala1204Thr	coding	Benign/Likely_benign
21	45510192	G	A	G45510192A	COL18A1	NM_001379500.1(COL18A1):c.3624G>A:p.Ser1208=	coding	Benign
21	45510881	C	T	C45510881T	COL18A1	NM_001379500.1(COL18A1):c.3694-230C>T	noncoding	Benign
21	45510882	A	G	A45510882G	COL18A1	NM_001379500.1(COL18A1):c.3694-229A>G	noncoding	Benign
21	45510939	A	G	A45510939G	COL18A1	NM_001379500.1(COL18A1):c.3694-172A>G	noncoding	Benign
21	45511152	C	T	C45511152T	COL18A1	NM_001379500.1(COL18A1):c.3735C>T:p.Gly1245=	coding	Benign/Likely_benign
21	45511167	G	A	G45511167A	COL18A1	NM_001379500.1(COL18A1):c.3750G>A:p.Leu1250=	coding	Benign
21	45511243	G	A	G45511243A	COL18A1	NM_001379500.1(COL18A1):c.3809+17G>A	noncoding	Benign
21	45512177	G	A	G45512177A	COL18A1	NM_001379500.1(COL18A1):c.3810-11G>A	noncoding	Benign
21	45512229	G	A	G45512229A	COL18A1	NM_001379500.1(COL18A1):c.3851G>A:p.Arg1284His	coding	Benign
21	45516028	G	A	G45516028A	SLC19A1	NM_194255.4(SLC19A1):c.1406C>T:p.Ala469Val	coding	Benign
21	45525860	A	G	A45525860G	SLC19A1	NM_194255.4(SLC19A1):c.1250T>C:p.Ile417Thr	coding	Benign
21	45530949	C	T	C45530949T	SLC19A1	NM_194255.4(SLC19A1):c.972G>A:p.Ala324=	coding	Benign
21	45530985	G	A	G45530985A	SLC19A1	NM_194255.4(SLC19A1):c.950-14C>T	noncoding	Benign
21	45531501	G	A	G45531501A	SLC19A1	NM_194255.4(SLC19A1):c.837C>T:p.Ala279=	coding	Benign
21	45531642	A	G	A45531642G	SLC19A1	NM_194255.4(SLC19A1):c.696T>C:p.Pro232=	coding	Benign
21	45532077	G	A	G45532077A	SLC19A1	NM_194255.4(SLC19A1):c.261C>T:p.Thr87=	coding	Benign
21	45538002	G	A	G45538002A	SLC19A1	NM_194255.4(SLC19A1):c.-43C>T	noncoding	Benign
21	45982778	C	T	C45982778T	COL6A1	NM_001848.3(COL6A1):c.227+15C>T	noncoding	Benign/Likely_benign
21	45984285	C	T	C45984285T	COL6A1	NM_001848.3(COL6A1):c.244C>T:p.Arg82Ter	coding	Pathogenic
21	45984375	G	A	G45984375A	COL6A1	NM_001848.3(COL6A1):c.334G>A:p.Ala112Thr	coding	Benign/Likely_benign
21	45987497	A	G	A45987497G	COL6A1	NM_001848.3(COL6A1):c.739-2A>G	noncoding	Pathogenic
21	45988876	G	C	G45988876C	COL6A1	NM_001848.3(COL6A1):c.805-208G>C	noncoding	Benign
21	45989103	G	A	G45989103A	COL6A1	NM_001848.3(COL6A1):c.824G>A:p.Gly275Glu	coding	Pathogenic
21	45989609	G	A	G45989609A	COL6A1	NM_001848.3(COL6A1):c.860G>A:p.Gly287Glu	coding	Pathogenic
21	45989713	A	G	A45989713G	COL6A1	NM_001848.3(COL6A1):c.904-39A>G	noncoding	Pathogenic/Likely_pathogenic
21	45989751	G	T	G45989751T	COL6A1	NM_001848.3(COL6A1):c.904-1G>T	noncoding	Pathogenic
21	45990499	C	T	C45990499T	COL6A1	NM_001848.3(COL6A1):c.1002+77C>T	noncoding	Benign
21	45990831	G	A	G45990831A	COL6A1	NM_001848.3(COL6A1):c.1056+5G>A	noncoding	Pathogenic
21	45992793	G	T	G45992793T	COL6A1	NM_001848.3(COL6A1):c.1318G>T:p.Gly440Ter	coding	Pathogenic
21	45994150	G	A	G45994150A	COL6A1	NM_001848.3(COL6A1):c.1336-17G>A	noncoding	Benign/Likely_benign
21	45994257	G	A	G45994257A	COL6A1	NM_001848.3(COL6A1):c.1398+28G>A	noncoding	Benign
21	45994349	T	C	T45994349C	COL6A1	NM_001848.3(COL6A1):c.1398+120T>C	noncoding	Benign
21	45997175	C	T	C45997175T	COL6A1	NM_001848.3(COL6A1):c.1399-246C>T	noncoding	Benign
21	45998896	G	A	G45998896A	COL6A1	NM_001848.3(COL6A1):c.1612-1G>A	noncoding	Pathogenic
21	45999235	G	A	G45999235A	COL6A1	NM_001848.3(COL6A1):c.1740+17G>A	noncoding	Benign
21	45999236	G	T	G45999236T	COL6A1	NM_001848.3(COL6A1):c.1740+18G>T	noncoding	Benign
21	45999705	C	T	C45999705T	COL6A1	NM_001848.3(COL6A1):c.1776+13C>T	noncoding	Benign/Likely_benign
21	46003102	G	A	G46003102A	COL6A1	NM_001848.3(COL6A1):c.2435-18G>A	noncoding	Benign
21	46003145	C	A	C46003145A	COL6A1	NM_001848.3(COL6A1):c.2460C>A:p.Cys820Ter	coding	Pathogenic
21	46097955	A	T	A46097955T	COL6A2	Single_allele	noncoding	Benign
21	46098272	T	C	T46098272C	COL6A2	NM_001849.4(COL6A2):c.-28+99T>C	noncoding	Benign
21	46111185	G	T	G46111185T	COL6A2	NM_001849.4(COL6A2):c.-27-265G>T	noncoding	Benign
21	46111207	C	A	C46111207A	COL6A2	NM_001849.4(COL6A2):c.-27-243C>A	noncoding	Benign
21	46112151	C	A	C46112151A	COL6A2	NM_001849.4(COL6A2):c.288C>A:p.Tyr96Ter	coding	Pathogenic
21	46112302	C	T	C46112302T	COL6A2	NM_001849.4(COL6A2):c.439C>T:p.Gln147Ter	coding	Pathogenic
21	46112679	G	A	G46112679A	COL6A2	NM_001849.4(COL6A2):c.714+102G>A	noncoding	Benign
21	46115872	G	A	G46115872A	COL6A2	NM_001849.4(COL6A2):c.802G>A:p.Gly268Ser	coding	Pathogenic
21	46115873	G	A	G46115873A	COL6A2	NM_001849.4(COL6A2):c.803G>A:p.Gly268Asp	coding	Pathogenic/Likely_pathogenic
21	46116037	G	A	G46116037A	COL6A2	NM_001849.4(COL6A2):c.884G>A:p.Gly295Glu	coding	Pathogenic
21	46116037	G	T	G46116037T	COL6A2	NM_001849.4(COL6A2):c.884G>T:p.Gly295Val	coding	Pathogenic
21	46116252	G	A	G46116252A	COL6A2	NM_001849.4(COL6A2):c.901-125G>A	noncoding	Benign
21	46116642	C	T	C46116642T	COL6A2	NM_001849.4(COL6A2):c.928-9C>T	noncoding	Benign/Likely_benign
21	46116677	G	C	G46116677C	COL6A2	NM_001849.4(COL6A2):c.954G>C:p.Lys318Asn	coding	Pathogenic
21	46116682	G	C	G46116682C	COL6A2	NM_001849.4(COL6A2):c.954+5G>C	noncoding	Pathogenic
21	46116769	G	C	G46116769C	COL6A2	NM_001849.4(COL6A2):c.955-1G>C	noncoding	Pathogenic
21	46117232	C	T	C46117232T	COL6A2	NM_001849.4(COL6A2):c.1000-168C>T	noncoding	Benign
21	46117308	G	A	G46117308A	COL6A2	NM_001849.4(COL6A2):c.1000-92G>A	noncoding	Benign
21	46117455	T	A	T46117455A	COL6A2	NM_001849.4(COL6A2):c.1053+2T>A	noncoding	Pathogenic
21	46117455	T	C	T46117455C	COL6A2	NM_001849.4(COL6A2):c.1053+2T>C	noncoding	Pathogenic
21	46117511	C	T	C46117511T	COL6A2	NM_001849.4(COL6A2):c.1053+58C>T	noncoding	Benign
21	46118410	C	T	C46118410T	COL6A2	NM_001849.4(COL6A2):c.1117-204C>T	noncoding	Benign
21	46119852	T	C	T46119852C	COL6A2	NM_001849.4(COL6A2):c.1332+2T>C	noncoding	Pathogenic
21	46120251	G	A	G46120251A	COL6A2	NM_001849.4(COL6A2):c.1333-264G>A	noncoding	Benign
21	46120320	G	T	G46120320T	COL6A2	NM_001849.4(COL6A2):c.1333-195G>T	noncoding	Benign
21	46121893	G	A	G46121893A	COL6A2	NM_001849.4(COL6A2):c.1522-215G>A	noncoding	Benign
21	46123117	C	T	C46123117T	COL6A2	NM_001849.4(COL6A2):c.1671+180C>T	noncoding	Benign
21	46124540	C	T	C46124540T	COL6A2	NM_001849.4(COL6A2):c.1672-111C>T	noncoding	Benign
21	46125634	C	T	C46125634T	COL6A2	NM_001849.4(COL6A2):c.1969+17C>T	noncoding	Benign
21	46125838	C	T	C46125838T	COL6A2	NM_001849.4(COL6A2):c.2023C>T:p.Gln675Ter	coding	Pathogenic
21	46125948	C	A	C46125948A	COL6A2	NM_001849.4(COL6A2):c.2133C>A:p.Tyr711Ter	coding	Pathogenic
21	46126156	C	T	C46126156T	COL6A2	NM_001849.4(COL6A2):c.2341C>T:p.Gln781Ter	coding	Pathogenic
21	46126253	C	T	C46126253T	COL6A2	NM_001849.4(COL6A2):c.2422+16C>T	noncoding	Benign
21	46129288	C	T	C46129288T	COL6A2	NM_001849.4(COL6A2):c.2462-2666C>T	coding	Pathogenic
21	46129782	T	C	T46129782C	COL6A2	NM_001849.4(COL6A2):c.2462-2172T>C	coding	Benign
21	46131680	G	A	G46131680A	COL6A2	NM_001849.4(COL6A2):c.2462-274G>A	noncoding	Benign
21	46131782	C	T	C46131782T	COL6A2	NM_001849.4(COL6A2):c.2462-172C>T	noncoding	Benign
21	46131968	C	T	C46131968T	COL6A2	NM_001849.4(COL6A2):c.2476C>T:p.Gln826Ter	coding	Pathogenic
21	46132064	C	T	C46132064T	COL6A2	NM_001849.4(COL6A2):c.2572C>T:p.Gln858Ter	coding	Pathogenic
21	46132261	C	T	C46132261T	COL6A2	NM_001849.4(COL6A2):c.2769C>T:p.His923=	coding	Benign/Likely_benign
21	46132487	G	T	G46132487T	COL6A2	NM_001849.4(COL6A2):c.2995G>T:p.Glu999Ter	coding	Pathogenic
21	46132613	G	A	G46132613A	COL6A2;FTCD	NM_001849.4(COL6A2):c.*61G>A	noncoding	Benign/Likely_benign
21	46136879	C	T	C46136879T	FTCD	NM_206965.2(FTCD):c.*108G>A	noncoding	Benign
21	46151717	C	T	C46151717T	FTCD	NM_206965.2(FTCD):c.477G>A:p.Ala159=	coding	Benign
21	46151751	C	T	C46151751T	FTCD	NM_206965.2(FTCD):c.457-14G>A	noncoding	Benign
21	46151753	C	T	C46151753T	FTCD	NM_206965.2(FTCD):c.457-16G>A	noncoding	Benign
21	46151882	G	C	G46151882C	FTCD	NM_206965.2(FTCD):c.456+10C>G	noncoding	Benign
21	46151997	C	T	C46151997T	FTCD	NM_206965.2(FTCD):c.368-17G>A	noncoding	Benign
21	46152973	C	T	C46152973T	FTCD	NM_206965.2(FTCD):c.301G>A:p.Val101Met	coding	Benign
21	46153048	G	A	G46153048A	FTCD	NM_206965.2(FTCD):c.239-13C>T	noncoding	Benign
21	46153051	G	A	G46153051A	FTCD	NM_206965.2(FTCD):c.239-16C>T	noncoding	Benign
21	46154176	G	A	G46154176A	FTCD	NM_206965.2(FTCD):c.211C>T:p.Arg71Ter	coding	Pathogenic
21	46191071	C	T	C46191071T	LSS	NM_002340.6(LSS):c.*33G>A	noncoding	Benign
21	46191371	T	C	T46191371C	LSS	NM_002340.6(LSS):c.2068-136A>G	noncoding	Benign
21	46191396	A	G	A46191396G	LSS	NM_002340.6(LSS):c.2068-161T>C	noncoding	Benign
21	46191444	A	G	A46191444G	LSS	NM_002340.6(LSS):c.2068-209T>C	noncoding	Benign
21	46191885	G	A	G46191885A	LSS	NM_002340.6(LSS):c.2063C>T:p.Pro688Leu	coding	Benign
21	46191979	A	C	A46191979C	LSS	NM_002340.6(LSS):c.1989-20T>G	noncoding	Benign
21	46192252	A	C	A46192252C	LSS	NM_002340.6(LSS):c.1989-293T>G	noncoding	Benign
21	46194255	T	C	T46194255C	LSS	NM_002340.6(LSS):c.1988+236A>G	noncoding	Benign
21	46194280	T	G	T46194280G	LSS	NM_002340.6(LSS):c.1988+211A>C	noncoding	Benign
21	46194483	G	A	G46194483A	LSS	NM_002340.6(LSS):c.1988+8C>T	noncoding	Benign/Likely_benign
21	46194524	G	A	G46194524A	LSS	NM_002340.6(LSS):c.1955C>T:p.Thr652Ile	coding	Pathogenic
21	46194639	G	A	G46194639A	LSS	NM_002340.6(LSS):c.1840C>T:p.Arg614Trp	coding	Benign
21	46194746	G	T	G46194746T	LSS	NM_002340.6(LSS):c.1818-85C>A	noncoding	Benign
21	46196157	G	C	G46196157C	LSS	NM_002340.6(LSS):c.1736+45C>G	noncoding	Benign
21	46196166	G	A	G46196166A	LSS	NM_002340.6(LSS):c.1736+36C>T	noncoding	Benign
21	46205630	C	T	C46205630T	LSS	NM_002340.6(LSS):c.1670+206G>A	noncoding	Benign
21	46205744	T	C	T46205744C	LSS	NM_002340.6(LSS):c.1670+92A>G	noncoding	Benign
21	46206190	G	A	G46206190A	LSS	NM_002340.6(LSS):c.1565-249C>T	noncoding	Benign
21	46206814	C	T	C46206814T	LSS	NM_002340.6(LSS):c.1468-46G>A	noncoding	Benign
21	46206845	C	A	C46206845A	LSS	NM_002340.6(LSS):c.1468-77G>T	noncoding	Benign
21	46207331	C	A	C46207331A	LSS	NM_002340.6(LSS):c.1467+97G>T	noncoding	Benign
21	46208461	G	T	G46208461T	LSS	NM_002340.6(LSS):c.1267-160C>A	noncoding	Benign
21	46209354	G	A	G46209354A	LSS	NM_002340.6(LSS):c.1266+200C>T	noncoding	Benign
21	46209656	G	A	G46209656A	LSS	NM_002340.6(LSS):c.1195-31C>T	noncoding	Benign
21	46210636	C	T	C46210636T	LSS	NM_002340.6(LSS):c.1194+52G>A	noncoding	Benign
21	46210718	G	A	G46210718A	LSS	NM_002340.6(LSS):c.1164C>T:p.Asp388=	coding	Benign
21	46210948	G	A	G46210948A	LSS	NM_002340.6(LSS):c.1138-204C>T	noncoding	Benign
21	46211037	T	C	T46211037C	LSS	NM_002340.6(LSS):c.1138-293A>G	noncoding	Benign
21	46211046	C	T	C46211046T	LSS	NM_002340.6(LSS):c.1138-302G>A	noncoding	Benign
21	46211048	G	A	G46211048A	LSS	NM_002340.6(LSS):c.1138-304C>T	noncoding	Benign
21	46212970	A	G	A46212970G	LSS	NM_002340.6(LSS):c.1137+55T>C	noncoding	Benign
21	46213005	C	T	C46213005T	LSS	NM_002340.6(LSS):c.1137+20G>A	noncoding	Benign
21	46213081	T	C	T46213081C	LSS	NM_002340.6(LSS):c.1110-29A>G	noncoding	Benign
21	46213875	C	G	C46213875G	LSS	NM_002340.6(LSS):c.1012-40G>C	noncoding	Benign
21	46215001	G	A	G46215001A	LSS	NM_002340.6(LSS):c.1011+179C>T	noncoding	Benign
21	46215298	G	A	G46215298A	LSS	NM_002340.6(LSS):c.893C>T:p.Ala298Val	coding	Benign
21	46215306	G	A	G46215306A	LSS	NM_002340.6(LSS):c.893-8C>T	noncoding	Benign
21	46215631	G	A	G46215631A	LSS	NM_002340.6(LSS):c.892+54C>T	noncoding	Benign
21	46215663	C	T	C46215663T	LSS	NM_002340.6(LSS):c.892+22G>A	noncoding	Benign
21	46215942	C	G	C46215942G	LSS	NM_002340.6(LSS):c.784-149G>C	noncoding	Benign
21	46215969	C	T	C46215969T	LSS	NM_002340.6(LSS):c.784-176G>A	noncoding	Benign
21	46216643	G	A	G46216643A	LSS	NM_002340.6(LSS):c.648-119C>T	noncoding	Benign
21	46216793	C	T	C46216793T	LSS	NM_002340.6(LSS):c.648-269G>A	noncoding	Benign
21	46219476	C	T	C46219476T	LSS	NM_002340.6(LSS):c.647G>A:p.Trp216Ter	coding	Pathogenic
21	46219634	C	T	C46219634T	LSS	NM_002340.6(LSS):c.551-62G>A	noncoding	Benign
21	46221786	G	T	G46221786T	LSS	NM_002340.6(LSS):c.550+68C>A	noncoding	Benign
21	46222082	C	G	C46222082G	LSS	NM_002340.6(LSS):c.429-107G>C	noncoding	Benign
21	46222102	C	T	C46222102T	LSS	NM_002340.6(LSS):c.429-127G>A	noncoding	Benign
21	46222358	C	T	C46222358T	LSS	NM_002340.6(LSS):c.428+272G>A	noncoding	Benign
21	46222409	C	G	C46222409G	LSS	NM_002340.6(LSS):c.428+221G>C	noncoding	Benign
21	46222483	C	T	C46222483T	LSS	NM_002340.6(LSS):c.428+147G>A	noncoding	Benign
21	46222500	C	T	C46222500T	LSS	NM_002340.6(LSS):c.428+130G>A	noncoding	Benign
21	46223000	A	T	A46223000T	LSS	NM_002340.6(LSS):c.320-262T>A	noncoding	Benign
21	46227468	T	A	T46227468A	LSS	NM_002340.6(LSS):c.319+84A>T	noncoding	Benign
21	46227525	C	A	C46227525A	LSS	NM_002340.6(LSS):c.319+27G>T	noncoding	Benign
21	46228310	G	A	G46228310A	LSS	NM_002340.6(LSS):c.180+124C>T	noncoding	Benign
21	46228958	A	G	A46228958G	LSS	Single_allele	noncoding	Benign
21	46235113	A	C	A46235113C	MCM3AP	Single_allele	noncoding	Benign
21	46235388	C	G	C46235388G	MCM3AP	NM_003906.5(MCM3AP):c.5823G>C:p.Ala1941=	coding	Benign
21	46235394	T	C	T46235394C	MCM3AP	NM_003906.5(MCM3AP):c.5817A>G:p.Ser1939=	coding	Benign
21	46235399	G	A	G46235399A	MCM3AP	NM_003906.5(MCM3AP):c.5812C>T:p.Leu1938=	coding	Benign
21	46235627	G	C	G46235627C	MCM3AP	NM_003906.5(MCM3AP):c.5785-201C>G	noncoding	Benign
21	46236750	C	T	C46236750T	MCM3AP	NM_003906.5(MCM3AP):c.5784+79G>A	noncoding	Benign
21	46236798	T	C	T46236798C	MCM3AP	NM_003906.5(MCM3AP):c.5784+31A>G	noncoding	Benign
21	46236818	G	T	G46236818T	MCM3AP	NM_003906.5(MCM3AP):c.5784+11C>A	noncoding	Benign
21	46240835	A	C	A46240835C	MCM3AP	NM_003906.5(MCM3AP):c.5609T>G:p.Leu1870Arg	coding	Benign
21	46240953	G	A	G46240953A	MCM3AP	NM_003906.5(MCM3AP):c.5491C>T:p.Arg1831Cys	coding	Benign
21	46242792	T	C	T46242792C	MCM3AP	NM_003906.5(MCM3AP):c.5426+10A>G	coding	Benign
21	46242999	A	C	A46242999C	MCM3AP	NM_003906.5(MCM3AP):c.5297-68T>G	noncoding	Benign
21	46243004	C	A	C46243004A	MCM3AP	NM_003906.5(MCM3AP):c.5297-73G>T	noncoding	Benign
21	46243006	C	A	C46243006A	MCM3AP	NM_003906.5(MCM3AP):c.5297-75G>T	noncoding	Benign
21	46243045	G	A	G46243045A	MCM3AP	NM_003906.5(MCM3AP):c.5297-114C>T	noncoding	Benign
21	46243482	C	T	C46243482T	MCM3AP	NM_003906.5(MCM3AP):c.5279G>A:p.Arg1760Gln	coding	Benign
21	46243526	G	A	G46243526A	MCM3AP	NM_003906.5(MCM3AP):c.5235C>T:p.Ile1745=	coding	Benign
21	46244720	A	G	A46244720G	MCM3AP	NM_003906.5(MCM3AP):c.5038+87T>C	noncoding	Benign
21	46244832	C	T	C46244832T	MCM3AP	NM_003906.5(MCM3AP):c.5013G>A:p.Pro1671=	coding	Benign
21	46245119	C	T	C46245119T	MCM3AP	NM_003906.5(MCM3AP):c.4726G>A:p.Val1576Ile	coding	Benign
21	46246418	A	G	A46246418G	MCM3AP	NM_003906.5(MCM3AP):c.4550-14T>C	noncoding	Benign
21	46246650	G	A	G46246650A	MCM3AP	NM_003906.5(MCM3AP):c.4527C>T:p.Ala1509=	coding	Benign/Likely_benign
21	46246830	G	T	G46246830T	MCM3AP	NM_003906.5(MCM3AP):c.4347C>A:p.Asp1449Glu	coding	Benign
21	46251391	A	G	A46251391G	MCM3AP	NM_003906.5(MCM3AP):c.4290+138T>C	coding	Benign
21	46251526	C	A	C46251526A	MCM3AP	NM_003906.5(MCM3AP):c.4290+3G>T	coding	Pathogenic
21	46251776	A	G	A46251776G	MCM3AP	NM_003906.5(MCM3AP):c.4137-94T>C	noncoding	Benign
21	46251795	G	A	G46251795A	MCM3AP	NM_003906.5(MCM3AP):c.4137-113C>T	noncoding	Benign
21	46254361	G	A	G46254361A	MCM3AP	NM_003906.5(MCM3AP):c.4136+31C>T	noncoding	Benign
21	46254511	C	T	C46254511T	MCM3AP	NM_003906.5(MCM3AP):c.4017G>A:p.Ala1339=	coding	Benign/Likely_benign
21	46254546	G	A	G46254546A	MCM3AP	NM_003906.5(MCM3AP):c.4002-20C>T	noncoding	Benign
21	46256797	G	A	G46256797A	MCM3AP	NM_003906.5(MCM3AP):c.3924C>T:p.Ser1308=	coding	Benign
21	46256923	C	T	C46256923T	MCM3AP	NM_003906.5(MCM3AP):c.3798G>A:p.Ala1266=	coding	Benign
21	46256926	A	G	A46256926G	MCM3AP	NM_003906.5(MCM3AP):c.3795T>C:p.Ala1265=	coding	Benign
21	46257020	T	C	T46257020C	MCM3AP	NM_003906.5(MCM3AP):c.3735-34A>G	noncoding	Benign
21	46257034	A	C	A46257034C	MCM3AP	NM_003906.5(MCM3AP):c.3735-48T>G	noncoding	Benign
21	46257087	A	T	A46257087T	MCM3AP	NM_003906.5(MCM3AP):c.3735-101T>A	noncoding	Benign
21	46257188	T	C	T46257188C	MCM3AP	NM_003906.5(MCM3AP):c.3735-202A>G	noncoding	Benign
21	46258737	A	G	A46258737G	MCM3AP	NM_003906.5(MCM3AP):c.3734+202T>C	noncoding	Benign
21	46258860	A	G	A46258860G	MCM3AP	NM_003906.5(MCM3AP):c.3734+79T>C	noncoding	Benign
21	46258920	G	C	G46258920C	MCM3AP	NM_003906.5(MCM3AP):c.3734+19C>G	noncoding	Benign
21	46260864	C	A	C46260864A	MCM3AP	NM_003906.5(MCM3AP):c.3510G>T:p.Gln1170His	coding	Benign
21	46260910	C	T	C46260910T	MCM3AP	NM_003906.5(MCM3AP):c.3468-4G>A	noncoding	Benign
21	46261127	C	T	C46261127T	MCM3AP	NM_003906.5(MCM3AP):c.3467+153G>A	noncoding	Benign
21	46261213	T	C	T46261213C	MCM3AP	NM_003906.5(MCM3AP):c.3467+67A>G	noncoding	Benign
21	46264236	G	A	G46264236A	MCM3AP	NM_003906.5(MCM3AP):c.3235-19C>T	noncoding	Benign
21	46264284	T	A	T46264284A	MCM3AP	NM_003906.5(MCM3AP):c.3235-67A>T	noncoding	Benign
21	46265371	C	T	C46265371T	MCM3AP	NM_003906.5(MCM3AP):c.3184G>A:p.Val1062Met	coding	Benign
21	46265403	G	A	G46265403A	MCM3AP	NM_003906.5(MCM3AP):c.3152C>T:p.Pro1051Leu	coding	Benign
21	46265444	C	T	C46265444T	MCM3AP	NM_003906.5(MCM3AP):c.3111G>A:p.Ala1037=	coding	Benign
21	46265873	T	C	T46265873C	MCM3AP	NM_003906.5(MCM3AP):c.3031+52A>G	noncoding	Benign
21	46266238	C	T	C46266238T	MCM3AP	NM_003906.5(MCM3AP):c.2790-72G>A	noncoding	Benign
21	46266260	T	C	T46266260C	MCM3AP	NM_003906.5(MCM3AP):c.2790-94A>G	noncoding	Benign
21	46267054	C	T	C46267054T	MCM3AP	NM_003906.5(MCM3AP):c.2717G>A:p.Arg906His	coding	Benign
21	46267101	C	T	C46267101T	MCM3AP	NM_003906.5(MCM3AP):c.2670G>A:p.Thr890=	coding	Benign
21	46267230	G	A	G46267230A	MCM3AP	NM_003906.5(MCM3AP):c.2629-88C>T	noncoding	Benign
21	46270437	G	C	G46270437C	MCM3AP	NM_003906.5(MCM3AP):c.2592C>G:p.Tyr864Ter	coding	Pathogenic
21	46272374	C	T	C46272374T	MCM3AP	NM_003906.5(MCM3AP):c.2465+187G>A	noncoding	Benign
21	46272501	T	C	T46272501C	MCM3AP	NM_003906.5(MCM3AP):c.2465+60A>G	noncoding	Benign
21	46272614	C	T	C46272614T	MCM3AP	NM_003906.5(MCM3AP):c.2412G>A:p.Ala804=	coding	Benign
21	46272617	T	C	T46272617C	MCM3AP	NM_003906.5(MCM3AP):c.2409A>G:p.Glu803=	coding	Benign
21	46272884	C	T	C46272884T	MCM3AP	NM_003906.5(MCM3AP):c.2197-55G>A	noncoding	Benign
21	46273484	G	A	G46273484A	MCM3AP	NM_003906.5(MCM3AP):c.2100C>T:p.Thr700=	coding	Benign
21	46273529	C	T	C46273529T	MCM3AP	NM_003906.5(MCM3AP):c.2055G>A:p.Glu685=	coding	Benign
21	46275166	G	A	G46275166A	MCM3AP	NM_003906.5(MCM3AP):c.1998+20C>T	noncoding	Benign
21	46275216	G	A	G46275216A	MCM3AP	NM_003906.5(MCM3AP):c.1968C>T:p.Ser656=	coding	Benign
21	46275255	C	T	C46275255T	MCM3AP	NM_003906.5(MCM3AP):c.1929G>A:p.Glu643=	coding	Benign
21	46275306	A	G	A46275306G	MCM3AP	NM_003906.5(MCM3AP):c.1878T>C:p.Asp626=	coding	Benign
21	46275481	C	G	C46275481G	MCM3AP	NM_003906.5(MCM3AP):c.1859-156G>C	noncoding	Benign
21	46275503	A	C	A46275503C	MCM3AP	NM_003906.5(MCM3AP):c.1859-178T>G	noncoding	Benign
21	46277515	C	A	C46277515A	MCM3AP	NM_003906.5(MCM3AP):c.1858+12G>T	noncoding	Benign
21	46277638	C	A	C46277638A	MCM3AP	NM_003906.5(MCM3AP):c.1747G>T:p.Glu583Ter	coding	Pathogenic
21	46277736	A	G	A46277736G	MCM3AP	NM_003906.5(MCM3AP):c.1668-19T>C	noncoding	Benign
21	46279942	G	A	G46279942A	MCM3AP	NM_003906.5(MCM3AP):c.1667+51C>T	noncoding	Benign
21	46280157	A	G	A46280157G	MCM3AP	NM_003906.5(MCM3AP):c.1523-20T>C	noncoding	Benign
21	46280215	G	A	G46280215A	MCM3AP	NM_003906.5(MCM3AP):c.1523-78C>T	noncoding	Benign
21	46280584	C	T	C46280584T	MCM3AP	NM_003906.5(MCM3AP):c.1444-9G>A	noncoding	Benign
21	46280752	C	A	C46280752A	MCM3AP	NM_003906.5(MCM3AP):c.1444-177G>T	noncoding	Benign
21	46283735	G	A	G46283735A	MCM3AP	NM_003906.5(MCM3AP):c.1323C>T:p.Asn441=	coding	Benign
21	46283820	G	A	G46283820A	MCM3AP	NM_003906.5(MCM3AP):c.1238C>T:p.Pro413Leu	coding	Benign
21	46284038	T	C	T46284038C	MCM3AP	NM_003906.5(MCM3AP):c.1219+30A>G	noncoding	Benign
21	46284425	T	C	T46284425C	MCM3AP	NM_003906.5(MCM3AP):c.862A>G:p.Met288Val	coding	Benign
21	46284831	T	C	T46284831C	MCM3AP	NM_003906.5(MCM3AP):c.456A>G:p.Ala152=	coding	Benign
21	46285071	T	C	T46285071C	MCM3AP	NM_003906.5(MCM3AP):c.216A>G:p.Thr72=	coding	Benign
21	46324040	C	T	C46324040T	PCNT	Single_allele	noncoding	Benign
21	46334949	C	A	C46334949A	PCNT	NM_006031.6(PCNT):c.639+181C>A	noncoding	Benign
21	46346090	T	G	T46346090G	PCNT	NM_006031.6(PCNT):c.640-38T>G	noncoding	Benign
21	46346543	C	T	C46346543T	PCNT	NM_006031.6(PCNT):c.721-200C>T	noncoding	Benign
21	46347094	G	A	G46347094A	PCNT	NM_006031.6(PCNT):c.976+96G>A	noncoding	Benign
21	46347265	G	A	G46347265A	PCNT	NM_006031.6(PCNT):c.977-192G>A	noncoding	Benign
21	46347381	G	C	G46347381C	PCNT	NM_006031.6(PCNT):c.977-76G>C	noncoding	Benign
21	46347568	C	T	C46347568T	PCNT	NM_006031.6(PCNT):c.1032+56C>T	noncoding	Benign
21	46347786	C	A	C46347786A	PCNT	NM_006031.6(PCNT):c.1032+274C>A	noncoding	Benign
21	46349220	A	T	A46349220T	PCNT	NM_006031.6(PCNT):c.1207+34A>T	noncoding	Benign
21	46349382	C	G	C46349382G	PCNT	NM_006031.6(PCNT):c.1207+196C>G	noncoding	Benign
21	46351257	C	T	C46351257T	PCNT	NM_006031.6(PCNT):c.1345-172C>T	noncoding	Benign
21	46351528	C	T	C46351528T	PCNT	NM_006031.6(PCNT):c.1444C>T:p.Gln482Ter	coding	Pathogenic
21	46351651	A	G	A46351651G	PCNT	NM_006031.6(PCNT):c.1456+111A>G	noncoding	Benign
21	46352941	G	A	G46352941A	PCNT	NM_006031.6(PCNT):c.1457-163G>A	noncoding	Benign
21	46353166	C	T	C46353166T	PCNT	NM_006031.6(PCNT):c.1519C>T:p.Arg507Ter	coding	Pathogenic
21	46353546	C	G	C46353546G	PCNT	NM_006031.6(PCNT):c.1679+220C>G	noncoding	Benign
21	46354125	T	C	T46354125C	PCNT	NM_006031.6(PCNT):c.1761+57T>C	noncoding	Benign
21	46355209	C	T	C46355209T	PCNT	NM_006031.6(PCNT):c.1762-243C>T	noncoding	Benign
21	46355634	C	T	C46355634T	PCNT	NM_006031.6(PCNT):c.1936+8C>T	noncoding	Benign
21	46355685	G	A	G46355685A	PCNT	NM_006031.6(PCNT):c.1936+59G>A	noncoding	Benign
21	46356930	G	A	G46356930A	PCNT	NM_006031.6(PCNT):c.1937-44G>A	noncoding	Benign
21	46363699	C	T	C46363699T	PCNT	NM_006031.6(PCNT):c.2374C>T:p.Arg792Ter	coding	Pathogenic
21	46366839	C	T	C46366839T	PCNT	NM_006031.6(PCNT):c.2865C>T:p.Ala955=	coding	Benign/Likely_benign
21	46366954	C	T	C46366954T	PCNT	NM_006031.6(PCNT):c.2980C>T:p.Arg994Ter	coding	Pathogenic
21	46381589	G	A	G46381589A	PCNT	NM_006031.6(PCNT):c.3166-105G>A	noncoding	Benign
21	46385748	C	G	C46385748G	PCNT	NM_006031.6(PCNT):c.3313-84C>G	noncoding	Benign
21	46386171	G	A	G46386171A	PCNT	NM_006031.6(PCNT):c.3464+188G>A	noncoding	Benign
21	46388702	C	T	C46388702T	PCNT	NM_006031.6(PCNT):c.3465-40C>T	noncoding	Benign
21	46388741	G	C	G46388741C	PCNT	NM_006031.6(PCNT):c.3465-1G>C	noncoding	Pathogenic
21	46391162	A	G	A46391162G	PCNT	NM_006031.6(PCNT):c.4004-2A>G	noncoding	Pathogenic
21	46397113	A	G	A46397113G	PCNT	NM_006031.6(PCNT):c.4217-152A>G	noncoding	Benign
21	46397649	G	T	G46397649T	PCNT	NM_006031.6(PCNT):c.4446+155G>T	noncoding	Benign
21	46397679	G	A	G46397679A	PCNT	NM_006031.6(PCNT):c.4446+185G>A	noncoding	Benign
21	46397889	G	A	G46397889A	PCNT	NM_006031.6(PCNT):c.4447-125G>A	noncoding	Benign
21	46398475	C	T	C46398475T	PCNT	NM_006031.6(PCNT):c.4584+220C>T	noncoding	Benign
21	46399660	C	A	C46399660A	PCNT	NM_006031.6(PCNT):c.4655C>A:p.Ser1552Ter	coding	Pathogenic
21	46400072	A	G	A46400072G	PCNT	NM_006031.6(PCNT):c.4791+276A>G	noncoding	Benign
21	46401336	C	T	C46401336T	PCNT	NM_006031.6(PCNT):c.4792-215C>T	noncoding	Benign
21	46402706	A	C	A46402706C	PCNT	NM_006031.6(PCNT):c.5115+223A>C	noncoding	Benign
21	46410970	C	T	C46410970T	PCNT	NM_006031.6(PCNT):c.5116-219C>T	noncoding	Benign
21	46411468	A	T	A46411468T	PCNT	NM_006031.6(PCNT):c.5395A>T:p.Lys1799Ter	coding	Pathogenic/Likely_pathogenic
21	46411687	G	A	G46411687A	PCNT	NM_006031.6(PCNT):c.5614G>A:p.Glu1872Lys	coding	Benign/Likely_benign
21	46411797	G	A	G46411797A	PCNT	NM_006031.6(PCNT):c.5724G>A:p.Gln1908=	coding	Benign/Likely_benign
21	46411816	G	A	G46411816A	PCNT	NM_006031.6(PCNT):c.5743G>A:p.Ala1915Thr	coding	Benign
21	46412055	C	G	C46412055G	PCNT	NM_006031.6(PCNT):c.5982C>G:p.Val1994=	coding	Benign/Likely_benign
21	46412105	T	C	T46412105C	PCNT	NM_006031.6(PCNT):c.5994+38T>C	noncoding	Benign
21	46412115	T	G	T46412115G	PCNT	NM_006031.6(PCNT):c.5994+48T>G	noncoding	Benign
21	46412126	G	A	G46412126A	PCNT	NM_006031.6(PCNT):c.5994+59G>A	noncoding	Benign
21	46412298	C	T	C46412298T	PCNT	NM_006031.6(PCNT):c.5994+231C>T	noncoding	Benign
21	46412680	C	T	C46412680T	PCNT	NM_006031.6(PCNT):c.5995-157C>T	noncoding	Benign
21	46416179	G	A	G46416179A	PCNT	NM_006031.6(PCNT):c.6261G>A:p.Gln2087=	coding	Benign/Likely_benign
21	46416937	A	G	A46416937G	PCNT	NM_006031.6(PCNT):c.6921+98A>G	noncoding	Benign
21	46417057	A	G	A46417057G	PCNT	NM_006031.6(PCNT):c.6921+218A>G	noncoding	Benign
21	46417894	C	A	C46417894A	PCNT	NM_006031.6(PCNT):c.6922-310C>A	noncoding	Benign
21	46418507	T	C	T46418507C	PCNT	NM_006031.6(PCNT):c.7024+201T>C	noncoding	Benign
21	46418529	C	T	C46418529T	PCNT	NM_006031.6(PCNT):c.7024+223C>T	noncoding	Benign
21	46421683	G	A	G46421683A	PCNT	NM_006031.6(PCNT):c.7025-287G>A	noncoding	Benign
21	46421778	C	T	C46421778T	PCNT	NM_006031.6(PCNT):c.7025-192C>T	noncoding	Benign
21	46421877	G	A	G46421877A	PCNT	NM_006031.6(PCNT):c.7025-93G>A	noncoding	Benign
21	46425525	C	T	C46425525T	PCNT	NM_006031.6(PCNT):c.7180-306C>T	noncoding	Benign
21	46425748	G	A	G46425748A	PCNT	NM_006031.6(PCNT):c.7180-83G>A	noncoding	Benign
21	46426022	T	C	T46426022C	PCNT	NM_006031.6(PCNT):c.7320+51T>C	noncoding	Benign
21	46426028	T	C	T46426028C	PCNT	NM_006031.6(PCNT):c.7320+57T>C	noncoding	Benign
21	46427714	G	A	G46427714A	PCNT	NM_006031.6(PCNT):c.7413G>A:p.Glu2471=	coding	Benign/Likely_benign
21	46427843	G	A	G46427843A	PCNT	NM_006031.6(PCNT):c.7494+48G>A	noncoding	Benign
21	46427932	C	A	C46427932A	PCNT	NM_006031.6(PCNT):c.7494+137C>A	noncoding	Benign
21	46428382	A	G	A46428382G	PCNT	NM_006031.6(PCNT):c.7495-13A>G	noncoding	Benign/Likely_benign
21	46428640	G	A	G46428640A	PCNT	NM_006031.6(PCNT):c.7690+50G>A	noncoding	Benign
21	46430264	C	T	C46430264T	PCNT	NM_006031.6(PCNT):c.7913+32C>T	noncoding	Benign
21	46430272	C	T	C46430272T	PCNT	NM_006031.6(PCNT):c.7913+40C>T	noncoding	Benign
21	46431261	A	G	A46431261G	PCNT	NM_006031.6(PCNT):c.8065-268A>G	noncoding	Benign
21	46431528	G	A	G46431528A	PCNT	NM_006031.6(PCNT):c.8065-1G>A	noncoding	Pathogenic
21	46431571	C	T	C46431571T	PCNT	NM_006031.6(PCNT):c.8107C>T:p.Arg2703Ter	coding	Pathogenic
21	46432313	C	T	C46432313T	PCNT	NM_006031.6(PCNT):c.8751+98C>T	noncoding	Benign
21	46435902	A	C	A46435902C	PCNT	NM_006031.6(PCNT):c.8752-2A>C	noncoding	Pathogenic
21	46436470	G	C	G46436470C	PCNT	NM_006031.6(PCNT):c.8996+322G>C	noncoding	Benign
21	46436757	G	A	G46436757A	PCNT	NM_006031.6(PCNT):c.8997-222G>A	noncoding	Benign
21	46440852	T	C	T46440852C	PCNT	NM_006031.6(PCNT):c.9394-3T>C	noncoding	Benign/Likely_benign
21	46441092	C	T	C46441092T	PCNT	NM_006031.6(PCNT):c.9623+8C>T	noncoding	Benign/Likely_benign
21	46442260	G	C	G46442260C	PCNT	NM_006031.6(PCNT):c.9624-237G>C	noncoding	Benign
21	46442574	G	A	G46442574A	PCNT	NM_006031.6(PCNT):c.9700+1G>A	coding	Pathogenic
21	46442583	C	T	C46442583T	PCNT	NM_006031.6(PCNT):c.9700+10C>T	noncoding	Benign/Likely_benign
21	46442741	C	T	C46442741T	PCNT	NM_006031.6(PCNT):c.9700+168C>T	noncoding	Benign
21	46443609	C	G	C46443609G	PCNT	NM_006031.6(PCNT):c.9701-201C>G	noncoding	Benign
21	46444543	G	A	G46444543A	PCNT	NM_006031.6(PCNT):c.9840-151G>A	noncoding	Benign
21	46444803	T	C	T46444803C	PCNT	NM_006031.6(PCNT):c.9949T>C:p.Leu3317=	coding	Benign/Likely_benign
21	46444839	C	T	C46444839T	PCNT	NM_006031.6(PCNT):c.9967+18C>T	noncoding	Benign/Likely_benign
21	46445019	C	A	C46445019A	PCNT	NM_006031.6(PCNT):c.9967+198C>A	noncoding	Benign
22	17097819	G	A	G17097819A	IL17RA	NM_014339.7(IL17RA):c.186G>A:p.Trp62Ter	coding	Pathogenic
22	17102122	G	A	G17102122A	IL17RA	NM_014339.7(IL17RA):c.599-17G>A	noncoding	Benign
22	17102322	C	T	C17102322T	IL17RA	NM_014339.7(IL17RA):c.762+20C>T	noncoding	Benign
22	17105837	G	A	G17105837A	IL17RA	NM_014339.7(IL17RA):c.944-16G>A	noncoding	Benign
22	17181701	C	G	C17181701G	ADA2	NM_001282225.2(ADA2):c.1442+119G>C	noncoding	Benign
22	17181789	C	T	C17181789T	ADA2	NM_001282225.2(ADA2):c.1442+31G>A	noncoding	Benign
22	17182186	C	G	C17182186G	ADA2	NM_001282225.2(ADA2):c.1240-164G>C	noncoding	Benign
22	17182733	G	T	G17182733T	ADA2	NM_001282225.2(ADA2):c.1110C>A:p.Asn370Lys	coding	Pathogenic/Likely_pathogenic
22	17182914	A	G	A17182914G	ADA2	NM_001282225.2(ADA2):c.1082-153T>C	noncoding	Benign
22	17188261	C	T	C17188261T	ADA2	NM_001282225.2(ADA2):c.1081+78G>A	noncoding	Benign
22	17188309	G	A	G17188309A	ADA2	NM_001282225.2(ADA2):c.1081+30C>T	noncoding	Benign
22	17188321	C	T	C17188321T	ADA2	NM_001282225.2(ADA2):c.1081+18G>A	noncoding	Benign
22	17188416	T	C	T17188416C	ADA2	NM_001282225.2(ADA2):c.1004A>G:p.His335Arg	coding	Benign
22	17188516	G	C	G17188516C	ADA2	NM_001282225.2(ADA2):c.973-69C>G	noncoding	Benign
22	17188572	C	T	C17188572T	ADA2	NM_001282225.2(ADA2):c.973-125G>A	noncoding	Benign
22	17188579	T	C	T17188579C	ADA2	NM_001282225.2(ADA2):c.973-132A>G	noncoding	Benign
22	17188607	T	C	T17188607C	ADA2	NM_001282225.2(ADA2):c.973-160A>G	noncoding	Benign
22	17189896	G	A	G17189896A	ADA2	NM_001282225.2(ADA2):c.972+46C>T	noncoding	Benign
22	17189917	C	T	C17189917T	ADA2	NM_001282225.2(ADA2):c.972+25G>A	noncoding	Benign
22	17190034	T	C	T17190034C	ADA2	NM_001282225.2(ADA2):c.882-2A>G	noncoding	Pathogenic
22	17190152	C	T	C17190152T	ADA2	NM_001282225.2(ADA2):c.882-120G>A	noncoding	Benign
22	17190162	C	T	C17190162T	ADA2	NM_001282225.2(ADA2):c.882-130G>A	noncoding	Benign
22	17191865	C	A	C17191865A	ADA2	NM_001282225.2(ADA2):c.754-55G>T	noncoding	Benign
22	17203422	T	A	T17203422A	ADA2	NM_001282225.2(ADA2):c.753+141A>T	noncoding	Benign
22	17203454	C	T	C17203454T	ADA2	NM_001282225.2(ADA2):c.753+109G>A	noncoding	Benign
22	17207323	G	A	G17207323A	ADA2	NM_001282225.2(ADA2):c.323-33C>T	noncoding	Benign
22	17209540	C	G	C17209540G	ADA2	NM_001282225.2(ADA2):c.138G>C:p.Leu46=	coding	Benign
22	17209676	A	G	A17209676G	ADA2	NM_001282225.2(ADA2):c.2T>C:p.Met1Thr	coding	Pathogenic
22	17209676	A	T	A17209676T	ADA2	NM_001282225.2(ADA2):c.2T>A:p.Met1Lys	coding	Pathogenic
22	17592497	T	C	T17592497C	ATP6V1E1	NM_001696.4(ATP6V1E1):c.*177A>G	noncoding	Benign
22	17592651	G	A	G17592651A	ATP6V1E1	NM_001696.4(ATP6V1E1):c.*23C>T	noncoding	Benign
22	17594514	T	C	T17594514C	ATP6V1E1	NM_001696.4(ATP6V1E1):c.618+15A>G	noncoding	Benign
22	17594568	G	A	G17594568A	ATP6V1E1	NM_001696.4(ATP6V1E1):c.579C>T:p.Ser193=	coding	Benign
22	17594677	C	T	C17594677T	ATP6V1E1	NM_001696.4(ATP6V1E1):c.531-61G>A	noncoding	Benign
22	17598064	T	C	T17598064C	ATP6V1E1	NM_001696.4(ATP6V1E1):c.530+130A>G	noncoding	Benign
22	17598327	C	A	C17598327A	ATP6V1E1	NM_001696.4(ATP6V1E1):c.436-39G>T	noncoding	Benign
22	17598370	G	A	G17598370A	ATP6V1E1	NM_001696.4(ATP6V1E1):c.436-82C>T	noncoding	Benign
22	17598390	G	T	G17598390T	ATP6V1E1	NM_001696.4(ATP6V1E1):c.436-102C>A	noncoding	Benign
22	17598584	T	C	T17598584C	ATP6V1E1	NM_001696.4(ATP6V1E1):c.436-296A>G	noncoding	Benign
22	17600825	T	C	T17600825C	ATP6V1E1	NM_001696.4(ATP6V1E1):c.366+267A>G	noncoding	Benign
22	17600971	G	T	G17600971T	ATP6V1E1	NM_001696.4(ATP6V1E1):c.366+121C>A	noncoding	Benign
22	17601267	C	T	C17601267T	ATP6V1E1	NM_001696.4(ATP6V1E1):c.277-86G>A	noncoding	Benign
22	17612546	C	T	C17612546T	ATP6V1E1	NM_001696.4(ATP6V1E1):c.276+266G>A	noncoding	Benign
22	17612673	G	C	G17612673C	ATP6V1E1	NM_001696.4(ATP6V1E1):c.276+139C>G	noncoding	Benign
22	17613072	A	G	A17613072G	ATP6V1E1	NM_001696.4(ATP6V1E1):c.209+139T>C	noncoding	Benign
22	17613113	C	T	C17613113T	ATP6V1E1	NM_001696.4(ATP6V1E1):c.209+98G>A	noncoding	Benign
22	17613135	T	C	T17613135C	ATP6V1E1	NM_001696.4(ATP6V1E1):c.209+76A>G	noncoding	Benign
22	17613228	A	T	A17613228T	ATP6V1E1	NM_001696.4(ATP6V1E1):c.192T>A:p.Ile64=	coding	Benign/Likely_benign
22	17613433	G	A	G17613433A	ATP6V1E1	NM_001696.4(ATP6V1E1):c.100-113C>T	noncoding	Benign
22	17613612	G	A	G17613612A	ATP6V1E1	NM_001696.4(ATP6V1E1):c.100-292C>T	noncoding	Benign
22	17619545	T	G	T17619545G	ATP6V1E1	NM_001696.4(ATP6V1E1):c.34-19A>C	noncoding	Benign/Likely_benign
22	17628334	G	C	G17628334C	ATP6V1E1	NM_001696.4(ATP6V1E1):c.33+269C>G	noncoding	Benign
22	17628665	T	C	T17628665C	ATP6V1E1	NM_001696.4(ATP6V1E1):c.-30A>G	noncoding	Benign
22	17628790	A	C	A17628790C	ATP6V1E1	NM_001696.3(ATP6V1E1):c.-155T>G	noncoding	Benign
22	17629002	T	C	T17629002C	ATP6V1E1	Single_allele	noncoding	Benign
22	17629076	T	C	T17629076C	ATP6V1E1	Single_allele	noncoding	Benign
22	18077804	C	T	C18077804T	PEX26	Single_allele	noncoding	Benign
22	18077845	T	G	T18077845G	PEX26	Single_allele	noncoding	Benign
22	18078014	G	C	G18078014C	PEX26	NM_001127649.3(PEX26):c.-363G>C	noncoding	Benign/Likely_benign
22	18078378	T	C	T18078378C	PEX26	NM_001127649.3(PEX26):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
22	18078809	A	T	A18078809T	PEX26	NM_001127649.3(PEX26):c.230+203A>T	noncoding	Benign
22	18079829	T	G	T18079829G	PEX26	NM_001127649.3(PEX26):c.231-45T>G	noncoding	Benign
22	18080122	C	T	C18080122T	PEX26	NM_001127649.3(PEX26):c.371+108C>T	noncoding	Benign
22	18080286	G	A	G18080286A	PEX26	NM_001127649.3(PEX26):c.371+272G>A	noncoding	Benign
22	18083566	G	A	G18083566A	PEX26	NM_001127649.3(PEX26):c.501G>A:p.Val167=	coding	Benign
22	18083936	C	T	C18083936T	PEX26	NM_001127649.3(PEX26):c.667+204C>T	noncoding	Benign
22	18087959	C	T	C18087959T	PEX26	NM_001127649.3(PEX26):c.815-13C>T	noncoding	Benign/Likely_benign
22	18090237	G	A	G18090237A	PEX26	NM_001127649.3(PEX26):c.*2162G>A	noncoding	Benign/Likely_benign
22	18110514	G	A	G18110514A	TUBA8	Single_allele	noncoding	Benign
22	18121534	G	A	G18121534A	TUBA8	NM_018943.3(TUBA8):c.59G>A:p.Cys20Tyr	coding	Pathogenic
22	18121677	A	C	A18121677C	TUBA8	NM_018943.3(TUBA8):c.202A>C:p.Ile68Leu	coding	Pathogenic
22	18121782	C	T	C18121782T	TUBA8	NM_018943.3(TUBA8):c.226+81C>T	noncoding	Benign
22	18124180	G	A	G18124180A	TUBA8	NM_018943.3(TUBA8):c.251G>A:p.Arg84His	coding	Benign/Likely_benign
22	18124539	A	T	A18124539T	TUBA8	NM_018943.3(TUBA8):c.375+235A>T	noncoding	Benign
22	18126052	G	T	G18126052T	TUBA8	NM_018943.3(TUBA8):c.376-302G>T	noncoding	Benign
22	18126298	G	T	G18126298T	TUBA8	NM_018943.3(TUBA8):c.376-56G>T	noncoding	Benign
22	18126548	C	T	C18126548T	TUBA8	NM_018943.3(TUBA8):c.570C>T:p.Thr190=	coding	Benign
22	18126846	G	A	G18126846A	TUBA8	NM_018943.3(TUBA8):c.868G>A:p.Glu290Lys	coding	Pathogenic
22	18130866	G	A	G18130866A	TUBA8	NM_018943.3(TUBA8):c.1080G>A:p.Pro360=	coding	Benign/Likely_benign
22	18913156	A	G	A18913156G	PRODH	NM_016335.6(PRODH):c.*19T>C	noncoding	Benign
22	18913491	C	T	C18913491T	PRODH	NM_016335.6(PRODH):c.1562G>A:p.Arg521Gln	coding	Benign
22	18913493	G	A	G18913493A	PRODH	NM_016335.6(PRODH):c.1560C>T:p.His520=	coding	Benign
22	18913577	A	G	A18913577G	PRODH	NM_016335.6(PRODH):c.1527-51T>C	noncoding	Benign
22	18913777	G	A	G18913777A	PRODH	NM_016335.6(PRODH):c.1527-251C>T	noncoding	Benign
22	18916627	A	C	A18916627C	PRODH	NM_016335.6(PRODH):c.1526+263T>G	noncoding	Benign
22	18916631	G	A	G18916631A	PRODH	NM_016335.6(PRODH):c.1526+259C>T	noncoding	Benign
22	18916901	A	G	A18916901G	PRODH	NM_016335.6(PRODH):c.1515T>C:p.Phe505=	coding	Benign
22	18917093	T	G	T18917093G	PRODH	NM_016335.6(PRODH):c.1428-105A>C	noncoding	Benign
22	18917130	G	A	G18917130A	PRODH	NM_016335.6(PRODH):c.1428-142C>T	noncoding	Benign
22	18917236	G	A	G18917236A	PRODH	NM_016335.6(PRODH):c.1428-248C>T	noncoding	Benign
22	18917237	T	G	T18917237G	PRODH	NM_016335.6(PRODH):c.1428-249A>C	noncoding	Benign
22	18918010	C	T	C18918010T	PRODH	NM_016335.6(PRODH):c.1427+306G>A	noncoding	Benign
22	18918043	G	A	G18918043A	PRODH	NM_016335.6(PRODH):c.1427+273C>T	noncoding	Benign
22	18918086	A	G	A18918086G	PRODH	NM_016335.6(PRODH):c.1427+230T>C	noncoding	Benign
22	18918093	G	C	G18918093C	PRODH	NM_016335.6(PRODH):c.1427+223C>G	noncoding	Benign
22	18918111	G	A	G18918111A	PRODH	NM_016335.6(PRODH):c.1427+205C>T	noncoding	Benign
22	18918329	C	T	C18918329T	PRODH	NM_016335.6(PRODH):c.1414G>A:p.Ala472Thr	coding	Benign
22	18918342	G	A	G18918342A	PRODH	NM_016335.6(PRODH):c.1401C>T:p.Tyr467=	coding	Benign
22	18918345	C	T	C18918345T	PRODH	NM_016335.6(PRODH):c.1398G>A:p.Thr466=	coding	Benign
22	18918465	G	A	G18918465A	PRODH	NM_016335.6(PRODH):c.1278C>T:p.Asp426=	coding	Benign
22	18918478	T	C	T18918478C	PRODH	NM_016335.6(PRODH):c.1265A>G:p.Asn422Ser	coding	Benign
22	18918505	G	A	G18918505A	PRODH	NM_016335.6(PRODH):c.1252-14C>T	noncoding	Benign
22	18919142	T	C	T18919142C	PRODH	NM_016335.6(PRODH):c.1251+309A>G	noncoding	Benign
22	18919192	A	G	A18919192G	PRODH	NM_016335.6(PRODH):c.1251+259T>C	noncoding	Benign
22	18919292	C	T	C18919292T	PRODH	NM_016335.6(PRODH):c.1251+159G>A	noncoding	Benign
22	18919326	A	G	A18919326G	PRODH	NM_016335.6(PRODH):c.1251+125T>C	noncoding	Benign
22	18919532	G	A	G18919532A	PRODH	NM_016335.6(PRODH):c.1170C>T:p.Ile390=	coding	Benign
22	18919611	G	A	G18919611A	PRODH	NM_016335.6(PRODH):c.1105-14C>T	noncoding	Benign
22	18919690	G	A	G18919690A	PRODH	NM_016335.6(PRODH):c.1104+16C>T	noncoding	Benign
22	18919745	C	T	C18919745T	PRODH	NM_016335.6(PRODH):c.1065G>A:p.Gln355=	coding	Benign
22	18919892	G	T	G18919892T	PRODH	NM_016335.6(PRODH):c.1012-94C>A	noncoding	Benign
22	18921128	C	T	C18921128T	PRODH	NM_016335.6(PRODH):c.1011+214G>A	noncoding	Benign
22	18921171	C	T	C18921171T	PRODH	NM_016335.6(PRODH):c.1011+171G>A	noncoding	Benign
22	18921213	T	C	T18921213C	PRODH	NM_016335.6(PRODH):c.1011+129A>G	noncoding	Benign
22	18921362	A	G	A18921362G	PRODH	NM_016335.6(PRODH):c.991T>C:p.Leu331=	coding	Benign
22	18921438	G	A	G18921438A	PRODH	NM_016335.6(PRODH):c.930-15C>T	noncoding	Benign
22	18921638	T	G	T18921638G	PRODH	NM_016335.6(PRODH):c.930-215A>C	noncoding	Benign
22	18922744	C	T	C18922744T	PRODH	NM_016335.6(PRODH):c.849+73G>A	noncoding	Benign
22	18922757	A	C	A18922757C	PRODH	NM_016335.6(PRODH):c.849+60T>G	noncoding	Benign
22	18922788	A	G	A18922788G	PRODH	NM_016335.6(PRODH):c.849+29T>C	noncoding	Benign
22	18922794	G	A	G18922794A	PRODH	NM_016335.6(PRODH):c.849+23C>T	noncoding	Benign
22	18922842	G	T	G18922842T	PRODH	NM_016335.6(PRODH):c.824C>A:p.Thr275Asn	coding	Benign
22	18922844	G	A	G18922844A	PRODH	NM_016335.6(PRODH):c.822C>T:p.Asp274=	coding	Benign
22	18922966	C	T	C18922966T	PRODH	NM_016335.6(PRODH):c.733-33G>A	noncoding	Benign
22	18923032	C	T	C18923032T	PRODH	NM_016335.6(PRODH):c.732+83G>A	noncoding	Benign
22	18923243	C	G	C18923243G	PRODH	NM_016335.6(PRODH):c.668-64G>C	noncoding	Benign
22	18923331	A	G	A18923331G	PRODH	NM_016335.6(PRODH):c.668-152T>C	noncoding	Benign
22	18924916	A	G	A18924916G	PRODH	NM_016335.6(PRODH):c.667+135T>C	noncoding	Benign
22	18925165	A	G	A18925165G	PRODH	NM_016335.6(PRODH):c.553T>C:p.Trp185Arg	coding	Benign
22	18925266	T	C	T18925266C	PRODH	NM_016335.6(PRODH):c.518-66A>G	noncoding	Benign
22	18925335	A	G	A18925335G	PRODH	NM_016335.6(PRODH):c.518-135T>C	noncoding	Benign
22	18925339	C	T	C18925339T	PRODH	NM_016335.6(PRODH):c.518-139G>A	noncoding	Benign
22	18925538	G	A	G18925538A	PRODH	NM_016335.6(PRODH):c.517+150C>T	noncoding	Benign
22	18925669	G	A	G18925669A	PRODH	NM_016335.6(PRODH):c.517+19C>T	noncoding	Benign
22	18925764	C	G	C18925764G	PRODH	NM_016335.6(PRODH):c.483-42G>C	noncoding	Benign
22	18925799	G	A	G18925799A	PRODH	NM_016335.6(PRODH):c.483-77C>T	noncoding	Benign
22	18930705	G	A	G18930705A	PRODH	NM_016335.6(PRODH):c.482+285C>T	noncoding	Benign
22	18930754	C	T	C18930754T	PRODH	NM_016335.6(PRODH):c.482+236G>A	noncoding	Benign
22	18930917	T	C	T18930917C	PRODH	NM_016335.6(PRODH):c.482+73A>G	noncoding	Benign
22	18931247	T	C	T18931247C	PRODH	NM_016335.6(PRODH):c.274-49A>G	noncoding	Benign
22	18931312	T	C	T18931312C	PRODH	NM_016335.6(PRODH):c.274-114A>G	noncoding	Benign
22	18931424	G	C	G18931424C	PRODH	NM_016335.6(PRODH):c.274-226C>G	noncoding	Benign
22	18935827	T	C	T18935827C	PRODH	NM_016335.6(PRODH):c.273+188A>G	noncoding	Benign
22	18935860	T	G	T18935860G	PRODH	NM_016335.6(PRODH):c.273+155A>C	noncoding	Benign
22	18935870	C	T	C18935870T	PRODH	NM_016335.6(PRODH):c.273+145G>A	noncoding	Benign
22	18935930	G	A	G18935930A	PRODH	NM_016335.6(PRODH):c.273+85C>T	noncoding	Benign
22	18936011	G	A	G18936011A	PRODH	NM_016335.6(PRODH):c.273+4C>T	noncoding	Benign
22	18936052	A	T	A18936052T	PRODH	NM_016335.6(PRODH):c.236T>A:p.Leu79Ter	coding	Pathogenic
22	18936072	C	G	C18936072G	PRODH	NM_016335.6(PRODH):c.216G>C:p.Arg72=	coding	Benign
22	18936232	G	T	G18936232T	PRODH	NM_016335.6(PRODH):c.56C>A:p.Pro19Gln	coding	Benign
22	18936297	G	C	G18936297C	PRODH	NM_016335.5(PRODH):c.-10C>G	noncoding	Benign
22	19176782	T	C	T19176782C	SLC25A1	NM_005984.5(SLC25A1):c.631+64A>G	noncoding	Benign
22	19177322	A	C	A19177322C	SLC25A1	NM_005984.5(SLC25A1):c.442-118T>G	noncoding	Benign
22	19177703	G	A	G19177703A	SLC25A1	NM_005984.5(SLC25A1):c.441+24C>T	noncoding	Benign
22	19178484	G	A	G19178484A	SLC25A1	NM_005984.5(SLC25A1):c.94+96C>T	coding	Benign
22	19178750	G	A	G19178750A	SLC25A1	Single_allele	noncoding	Benign
22	19196584	T	C	T19196584C	CLTCL1	NM_007098.4(CLTCL1):c.3946A>G:p.Met1316Val	coding	Benign
22	19235829	T	C	T19235829C	CLTCL1	NM_007098.4(CLTCL1):c.836A>G:p.Tyr279Cys	coding	Benign
22	19331389	C	T	C19331389T	HIRA	NM_003325.4(HIRA):c.*51G>A	noncoding	Benign
22	19355982	C	A	C19355982A	HIRA	NM_003325.4(HIRA):c.2456-117G>T	noncoding	Benign
22	19356358	C	T	C19356358T	HIRA	NM_003325.4(HIRA):c.2397-70G>A	noncoding	Benign
22	19359312	G	A	G19359312A	HIRA	NM_003325.4(HIRA):c.2234+24C>T	noncoding	Benign
22	19361120	T	C	T19361120C	HIRA	NM_003325.4(HIRA):c.2085+117A>G	noncoding	Benign
22	19361383	A	G	A19361383G	HIRA	NM_003325.4(HIRA):c.1981-42T>C	noncoding	Benign
22	19362067	G	C	G19362067C	HIRA	NM_003325.4(HIRA):c.1776-136C>G	noncoding	Benign
22	19377763	T	C	T19377763C	HIRA	NM_003325.4(HIRA):c.1613+106A>G	noncoding	Benign
22	19383529	C	T	C19383529T	HIRA	NM_003325.4(HIRA):c.1415+91G>A	noncoding	Benign
22	19387975	G	C	G19387975C	HIRA	NM_003325.4(HIRA):c.1008-159C>G	noncoding	Benign
22	19388601	C	T	C19388601T	HIRA	NM_003325.4(HIRA):c.937-47G>A	noncoding	Benign
22	19392032	T	G	T19392032G	HIRA	NM_003325.4(HIRA):c.936+69A>C	noncoding	Benign
22	19397066	C	G	C19397066G	HIRA	NM_003325.4(HIRA):c.494-119G>C	noncoding	Benign
22	19410632	T	C	T19410632C	HIRA	NM_003325.4(HIRA):c.100+84A>G	noncoding	Benign
22	19431570	A	G	A19431570G	HIRA	NM_003325.4(HIRA):c.-94T>C	noncoding	Benign
22	19432586	T	C	T19432586C	MRPL40	NM_003776.4(MRPL40):c.32T>C:p.Leu11Pro	coding	Benign
22	19433255	T	A	T19433255A	MRPL40	NM_003776.4(MRPL40):c.54-10T>A	noncoding	Benign
22	19435727	G	A	G19435727A	MRPL40	NM_003776.4(MRPL40):c.386G>A:p.Arg129His	coding	Benign
22	19435833	G	T	G19435833T	MRPL40	NM_003776.4(MRPL40):c.492G>T:p.Arg164=	coding	Benign
22	19450821	G	A	G19450821A	UFD1	NM_005659.7(UFD1):c.850-77C>T	noncoding	Benign
22	19450839	A	G	A19450839G	UFD1	NM_005659.7(UFD1):c.850-95T>C	noncoding	Benign
22	19455648	C	T	C19455648T	UFD1	NM_005659.7(UFD1):c.767+32G>A	noncoding	Benign
22	19455788	G	C	G19455788C	UFD1	NM_005659.7(UFD1):c.679-20C>G	noncoding	Benign
22	19456408	G	T	G19456408T	UFD1	NM_005659.7(UFD1):c.678+179C>A	noncoding	Benign
22	19456658	G	A	G19456658A	UFD1	NM_005659.7(UFD1):c.631-24C>T	noncoding	Benign
22	19467853	C	T	C19467853T	UFD1	NM_005659.7(UFD1):c.422+20G>A	noncoding	Benign
22	19468082	G	A	G19468082A	UFD1	NM_005659.7(UFD1):c.292-79C>T	noncoding	Benign
22	19471634	A	G	A19471634G	UFD1	NM_005659.7(UFD1):c.291+53T>C	noncoding	Benign
22	19474943	C	G	C19474943G	UFD1	NM_005659.7(UFD1):c.169+125G>C	noncoding	Benign
22	19478862	G	A	G19478862A	UFD1	NM_005659.7(UFD1):c.3+221C>T	noncoding	Benign
22	19478942	C	G	C19478942G	UFD1	NM_005659.7(UFD1):c.3+141G>C	noncoding	Benign
22	19479363	T	C	T19479363C	UFD1	Single_allele	noncoding	Benign
22	19479774	C	G	C19479774G	CDC45	NM_001369291.1(CDC45):c.15+203C>G	noncoding	Benign
22	19479939	G	T	G19479939T	CDC45	NM_003504.5(CDC45):c.-30G>T	noncoding	Benign
22	19480129	T	C	T19480129C	CDC45	NM_003504.5(CDC45):c.52-29T>C	noncoding	Benign
22	19480194	C	T	C19480194T	CDC45	NM_003504.5(CDC45):c.88C>T:p.Leu30=	coding	Benign
22	19480414	G	A	G19480414A	CDC45	NM_003504.5(CDC45):c.111+197G>A	noncoding	Benign
22	19480991	T	C	T19480991C	CDC45	NM_003504.5(CDC45):c.150T>C:p.Val50=	coding	Benign
22	19481132	C	T	C19481132T	CDC45	NM_003504.5(CDC45):c.204+87C>T	noncoding	Benign
22	19481149	G	A	G19481149A	CDC45	NM_003504.5(CDC45):c.204+104G>A	noncoding	Benign
22	19482678	C	T	C19482678T	CDC45	NM_003504.5(CDC45):c.205-12C>T	noncoding	Benign/Likely_benign
22	19482782	C	T	C19482782T	CDC45	NM_003504.5(CDC45):c.297C>T:p.Asp99=	coding	Benign
22	19484086	A	G	A19484086G	CDC45	NM_003504.5(CDC45):c.486+81A>G	noncoding	Benign
22	19496042	A	T	A19496042T	CDC45	NM_003504.5(CDC45):c.591+13A>T	noncoding	Benign
22	19497366	A	G	A19497366G	CDC45	NM_003504.5(CDC45):c.592-20A>G	noncoding	Benign
22	19497611	C	T	C19497611T	CDC45	NM_003504.5(CDC45):c.653+164C>T	noncoding	Benign
22	19498868	C	T	C19498868T	CDC45	NM_003504.5(CDC45):c.654-233C>T	noncoding	Benign
22	19499077	C	T	C19499077T	CDC45	NM_003504.5(CDC45):c.654-24C>T	noncoding	Benign
22	19499293	A	G	A19499293G	CDC45	NM_003504.5(CDC45):c.704+142A>G	noncoding	Benign
22	19505121	G	A	G19505121A	CDC45	NM_003504.5(CDC45):c.705-241G>A	noncoding	Benign
22	19505169	C	G	C19505169G	CDC45	NM_003504.5(CDC45):c.705-193C>G	noncoding	Benign
22	19507170	C	T	C19507170T	CDC45	NM_003504.5(CDC45):c.825-216C>T	noncoding	Benign
22	19508226	A	G	A19508226G	CDC45	NM_003504.5(CDC45):c.1056-304A>G	noncoding	Benign
22	19508444	G	A	G19508444A	CDC45	NM_003504.5(CDC45):c.1056-86G>A	noncoding	Benign
22	19508557	C	T	C19508557T	CDC45	NM_003504.5(CDC45):c.1083C>T:p.Phe361=	coding	Benign
22	19508900	T	C	T19508900C	CDC45	NM_003504.5(CDC45):c.1217+209T>C	noncoding	Benign
22	19514730	T	C	T19514730C	CDC45	NM_003504.5(CDC45):c.1218-19T>C	noncoding	Benign/Likely_benign
22	19516634	G	A	G19516634A	CDC45	NM_003504.5(CDC45):c.1548G>A:p.Ser516=	coding	Benign/Likely_benign
22	19516663	G	A	G19516663A	CDC45	NM_003504.5(CDC45):c.1559+18G>A	noncoding	Benign/Likely_benign
22	19516669	G	C	G19516669C	CDC45	NM_003504.5(CDC45):c.1559+24G>C	noncoding	Benign
22	19516795	G	A	G19516795A	CDC45	NM_003504.5(CDC45):c.1560-22G>A	noncoding	Benign
22	19516805	G	T	G19516805T	CDC45	NM_003504.5(CDC45):c.1560-12G>T	noncoding	Benign
22	19516947	T	C	T19516947C	CDC45	NM_003504.5(CDC45):c.1636+54T>C	noncoding	Benign
22	19518612	G	C	G19518612C	CDC45	NM_003504.5(CDC45):c.1637-232G>C	noncoding	Benign
22	19518933	G	T	G19518933T	CDC45	NM_003504.5(CDC45):c.*1+24G>T	noncoding	Benign
22	19518953	C	T	C19518953T	CDC45	NM_003504.5(CDC45):c.*1+44C>T	noncoding	Benign
22	19519037	T	A	T19519037A	CDC45	NM_003504.5(CDC45):c.*1+128T>A	noncoding	Benign
22	19523532	C	A	C19523532A	CLDN5	NM_001363066.2(CLDN5):c.*67G>T	noncoding	Benign
22	19523953	G	A	G19523953A	CLDN5	NM_001363066.2(CLDN5):c.303C>T:p.Gly101=	coding	Benign
22	19723570	A	G	A19723570G	GP1BB	NM_000407.5(GP1BB):c.1A>G:p.Met1Val	coding	Pathogenic
22	19723570	A	T	A19723570T	GP1BB	NM_000407.5(GP1BB):c.1A>T:p.Met1Leu	coding	Pathogenic
22	19723890	T	C	T19723890C	GP1BB	NM_000407.5(GP1BB):c.47T>C:p.Leu16Pro	coding	Pathogenic/Likely_pathogenic
22	19724286	G	A	G19724286A	GP1BB	NM_000407.5(GP1BB):c.443G>A:p.Trp148Ter	coding	Pathogenic
22	19724343	T	C	T19724343C	GP1BB	NM_000407.5(GP1BB):c.500T>C:p.Leu167Pro	coding	Pathogenic
22	19724571	C	T	C19724571T	GP1BB	NM_000407.5(GP1BB):c.*107C>T	noncoding	Benign
22	19755901	C	T	C19755901T	TBX1	NC_000022.10:g.19743424C>T	noncoding	Benign
22	19759380	A	T	A19759380T	TBX1	NM_080647.1(TBX1):c.-86-178A>T	noncoding	Benign
22	19759519	C	T	C19759519T	TBX1	NM_080647.1(TBX1):c.-86-39C>T	noncoding	Benign
22	19759559	G	C	G19759559C	TBX1	NM_080647.1(TBX1):c.-85G>C	noncoding	Benign
22	19759962	G	C	G19759962C	TBX1	NM_080647.1(TBX1):c.34+285G>C	noncoding	Benign
22	19760789	G	C	G19760789C	TBX1	NM_001379200.1(TBX1):c.-55G>C	noncoding	Benign
22	19761029	C	A	C19761029A	TBX1	NM_001379200.1(TBX1):c.186C>A:p.Cys62Ter	coding	Pathogenic
22	19761291	C	T	C19761291T	TBX1	NM_001379200.1(TBX1):c.437+11C>T	noncoding	Benign/Likely_benign
22	19763578	C	A	C19763578A	TBX1	NM_001379200.1(TBX1):c.539+236C>A	noncoding	Benign
22	19764138	A	C	A19764138C	TBX1	NM_001379200.1(TBX1):c.540-17A>C	noncoding	Benign
22	19764139	C	T	C19764139T	TBX1	NM_001379200.1(TBX1):c.540-16C>T	noncoding	Benign
22	19764147	C	T	C19764147T	TBX1	NM_001379200.1(TBX1):c.540-8C>T	noncoding	Benign/Likely_benign
22	19764148	G	A	G19764148A	TBX1	NM_001379200.1(TBX1):c.540-7G>A	noncoding	Benign
22	19764327	G	A	G19764327A	TBX1	NM_001379200.1(TBX1):c.711+1G>A	coding	Pathogenic/Likely_pathogenic
22	19764484	T	C	T19764484C	TBX1	NM_001379200.1(TBX1):c.711+158T>C	noncoding	Benign
22	19765420	A	C	A19765420C	TBX1	NM_001379200.1(TBX1):c.867+307A>C	noncoding	Benign
22	19765450	C	T	C19765450T	TBX1	NM_001379200.1(TBX1):c.868-308C>T	noncoding	Benign
22	19765856	C	T	C19765856T	TBX1	NM_001379200.1(TBX1):c.935+31C>T	noncoding	Benign
22	19766124	C	G	C19766124G	TBX1	NM_001379200.1(TBX1):c.1036+122C>G	noncoding	Benign
22	19766306	C	T	C19766306T	TBX1	NM_001379200.1(TBX1):c.1037-83C>T	noncoding	Benign
22	19766325	A	G	A19766325G	TBX1	NM_001379200.1(TBX1):c.1037-64A>G	noncoding	Benign
22	19766415	C	T	C19766415T	TBX1	NM_001379200.1(TBX1):c.1063C>T:p.Gln355Ter	coding	Pathogenic
22	19766596	G	A	G19766596A	TBX1	NM_001379200.1(TBX1):c.1244G>A:p.Gly415Asp	coding	Benign/Likely_benign
22	19766776	C	T	C19766776T	TBX1	NM_001379200.1(TBX1):c.1424C>T:p.Ala475Val	coding	Benign/Likely_benign
22	19779528	G	T	G19779528T	TBX1	NM_005992.1(TBX1):c.1010-3385G>T	coding	Benign
22	19783183	A	G	A19783183G	TBX1	NM_005992.1(TBX1):c.*11-131A>G	noncoding	Benign
22	19783184	C	T	C19783184T	TBX1	NM_005992.1(TBX1):c.*11-130C>T	noncoding	Benign
22	19783263	C	T	C19783263T	TBX1	NM_053004.3(GNB1L):c.*5446G>A	noncoding	Benign
22	19875619	T	C	T19875619C	TXNRD2	NM_006440.5(TXNRD2):c.*254A>G	noncoding	Benign
22	19876812	G	A	G19876812A	TXNRD2	NM_006440.5(TXNRD2):c.*65+228C>T	noncoding	Benign
22	19880391	C	A	C19880391A	TXNRD2	NM_006440.5(TXNRD2):c.1183-120G>T	noncoding	Benign
22	19883313	C	T	C19883313T	TXNRD2	NM_006440.5(TXNRD2):c.1086+12G>A	noncoding	Benign/Likely_benign
22	19898920	G	A	G19898920A	TXNRD2	NM_006440.5(TXNRD2):c.682+129C>T	noncoding	Benign
22	19911295	C	A	C19911295A	TXNRD2	NM_006440.5(TXNRD2):c.662+82G>T	noncoding	Benign
22	19911474	A	G	A19911474G	TXNRD2	NM_006440.5(TXNRD2):c.592-27T>C	noncoding	Benign
22	19911538	G	C	G19911538C	TXNRD2	NM_006440.5(TXNRD2):c.592-91C>G	noncoding	Benign
22	19911693	C	G	C19911693G	TXNRD2	NM_006440.5(TXNRD2):c.592-246G>C	noncoding	Benign
22	19915374	G	A	G19915374A	TXNRD2	NM_006440.5(TXNRD2):c.529-98C>T	noncoding	Benign
22	19918236	A	C	A19918236C	TXNRD2	NM_006440.5(TXNRD2):c.375-19T>G	noncoding	Benign/Likely_benign
22	19918421	A	G	A19918421G	TXNRD2	NM_006440.5(TXNRD2):c.375-204T>C	noncoding	Benign
22	19918843	C	T	C19918843T	TXNRD2	NM_006440.5(TXNRD2):c.374+17G>A	noncoding	Benign/Likely_benign
22	19941361	C	T	C19941361T	TXNRD2	NM_006440.5(TXNRD2):c.103+340G>A	noncoding	Benign
22	19941504	C	T	C19941504T	TXNRD2	NM_006440.5(TXNRD2):c.103+197G>A	noncoding	Benign
22	19941682	C	T	C19941682T	TXNRD2	NM_006440.5(TXNRD2):c.103+19G>A	noncoding	Benign/Likely_benign
22	19962429	A	G	A19962429G	COMT	NM_000754.4(COMT):c.1-98A>G	noncoding	Benign
22	19962745	G	A	G19962745A	COMT	NM_000754.4(COMT):c.219G>A:p.Gln73=	coding	Benign
22	19962905	A	G	A19962905G	COMT	NM_000754.4(COMT):c.289+90A>G	noncoding	Benign
22	19963748	G	A	G19963748A	COMT	NM_000754.4(COMT):c.472G>A:p.Val158Met	coding	Benign
22	19964281	G	A	G19964281A	COMT	NM_000754.4(COMT):c.597G>A:p.Pro199=	coding	Benign
22	19964374	G	C	G19964374C	COMT	NM_000754.4(COMT):c.615+75G>C	noncoding	Benign
22	19968491	G	C	G19968491C	COMT	NM_000754.4(COMT):c.616-45G>C	noncoding	Benign
22	19971146	G	A	G19971146A	ARVCF	NM_001670.3(ARVCF):c.*12+70C>T	noncoding	Benign
22	19971306	G	A	G19971306A	ARVCF	NM_001670.3(ARVCF):c.2811C>T:p.Pro937=	coding	Benign
22	19971488	G	A	G19971488A	ARVCF	NM_001670.3(ARVCF):c.2782-153C>T	noncoding	Benign
22	19971510	G	A	G19971510A	ARVCF	NM_001670.3(ARVCF):c.2782-175C>T	noncoding	Benign
22	19971704	G	A	G19971704A	ARVCF	NM_001670.3(ARVCF):c.2781+182C>T	noncoding	Benign
22	19971843	G	A	G19971843A	ARVCF	NM_001670.3(ARVCF):c.2781+43C>T	noncoding	Benign
22	19971950	C	T	C19971950T	ARVCF	NM_001670.3(ARVCF):c.2717G>A:p.Arg906Gln	coding	Benign
22	19972223	C	T	C19972223T	ARVCF	NM_001670.3(ARVCF):c.2695+135G>A	noncoding	Benign
22	19972432	A	G	A19972432G	ARVCF	NM_001670.3(ARVCF):c.2642-21T>C	noncoding	Benign
22	19972617	G	A	G19972617A	ARVCF	NM_001670.3(ARVCF):c.2641+120C>T	noncoding	Benign
22	19972661	C	G	C19972661G	ARVCF	NM_001670.3(ARVCF):c.2641+76G>C	noncoding	Benign
22	19972665	T	C	T19972665C	ARVCF	NM_001670.3(ARVCF):c.2641+72A>G	noncoding	Benign
22	19972675	G	C	G19972675C	ARVCF	NM_001670.3(ARVCF):c.2641+62C>G	noncoding	Benign
22	19972871	G	A	G19972871A	ARVCF	NM_001670.3(ARVCF):c.2551-44C>T	noncoding	Benign
22	19973083	G	C	G19973083C	ARVCF	NM_001670.3(ARVCF):c.2438+36C>G	noncoding	Benign
22	19973484	G	C	G19973484C	ARVCF	NM_001670.3(ARVCF):c.2239+159C>G	noncoding	Benign
22	19973487	C	T	C19973487T	ARVCF	NM_001670.3(ARVCF):c.2239+156G>A	noncoding	Benign
22	19973578	C	T	C19973578T	ARVCF	NM_001670.3(ARVCF):c.2239+65G>A	noncoding	Benign
22	19974403	G	A	G19974403A	ARVCF	NM_001670.3(ARVCF):c.1961-164C>T	noncoding	Benign
22	19974432	A	G	A19974432G	ARVCF	NM_001670.3(ARVCF):c.1961-193T>C	noncoding	Benign
22	19975900	C	T	C19975900T	ARVCF	NM_001670.3(ARVCF):c.1889-143G>A	noncoding	Benign
22	19976895	T	G	T19976895G	ARVCF	NM_001670.3(ARVCF):c.1871-172A>C	noncoding	Benign
22	19978797	T	C	T19978797C	ARVCF	NM_001670.3(ARVCF):c.1580+100A>G	noncoding	Benign
22	19979226	C	T	C19979226T	ARVCF	NM_001670.3(ARVCF):c.1397-146G>A	noncoding	Benign
22	19979545	G	A	G19979545A	ARVCF	NM_001670.3(ARVCF):c.1396+198C>T	noncoding	Benign
22	19979703	C	T	C19979703T	ARVCF	NM_001670.3(ARVCF):c.1396+40G>A	noncoding	Benign
22	19979725	T	C	T19979725C	ARVCF	NM_001670.3(ARVCF):c.1396+18A>G	noncoding	Benign
22	19979957	C	G	C19979957G	ARVCF	NM_001670.3(ARVCF):c.1182G>C:p.Arg394=	coding	Benign
22	19980020	G	A	G19980020A	ARVCF	NM_001670.3(ARVCF):c.1119C>T:p.Pro373=	coding	Benign
22	19980285	G	T	G19980285T	ARVCF	NM_001670.3(ARVCF):c.897-43C>A	noncoding	Benign
22	19980457	C	T	C19980457T	ARVCF	NM_001670.3(ARVCF):c.897-215G>A	noncoding	Benign
22	19981031	C	T	C19981031T	ARVCF	NM_001670.3(ARVCF):c.896+180G>A	noncoding	Benign
22	19981074	C	T	C19981074T	ARVCF	NM_001670.3(ARVCF):c.896+137G>A	noncoding	Benign
22	19981448	G	A	G19981448A	ARVCF	NM_001670.3(ARVCF):c.659C>T:p.Pro220Leu	coding	Benign
22	19981520	C	T	C19981520T	ARVCF	NM_001670.3(ARVCF):c.587G>A:p.Arg196Gln	coding	Benign
22	19981583	A	G	A19981583G	ARVCF	NM_001670.3(ARVCF):c.524T>C:p.Val175Ala	coding	Benign
22	19981877	G	A	G19981877A	ARVCF	NM_001670.3(ARVCF):c.369+56C>T	noncoding	Benign
22	19982173	C	T	C19982173T	ARVCF	NM_001670.3(ARVCF):c.211-82G>A	noncoding	Benign
22	19982202	G	A	G19982202A	ARVCF	NM_001670.3(ARVCF):c.211-111C>T	noncoding	Benign
22	19990467	C	T	C19990467T	ARVCF	NM_001670.3(ARVCF):c.210+118G>A	noncoding	Benign
22	19990499	C	T	C19990499T	ARVCF	NM_001670.3(ARVCF):c.210+86G>A	noncoding	Benign
22	19990551	A	T	A19990551T	ARVCF	NM_001670.3(ARVCF):c.210+34T>A	noncoding	Benign
22	19990857	G	C	G19990857C	ARVCF	NM_001670.3(ARVCF):c.-18-45C>G	noncoding	Benign
22	19991035	T	C	T19991035C	ARVCF	NM_001670.3(ARVCF):c.-18-223A>G	noncoding	Benign
22	20043417	G	A	G20043417A	TANGO2	NM_152906.7(TANGO2):c.119G>A:p.Trp40Ter	coding	Pathogenic
22	20043456	G	T	G20043456T	TANGO2	NM_152906.7(TANGO2):c.145+13G>T	noncoding	Benign
22	20052195	G	A	G20052195A	TANGO2	NM_152906.7(TANGO2):c.146-270G>A	noncoding	Benign
22	20052344	C	T	C20052344T	TANGO2	NM_152906.7(TANGO2):c.146-121C>T	noncoding	Benign
22	20052581	C	T	C20052581T	TANGO2	NM_152906.7(TANGO2):c.262C>T:p.Arg88Ter	coding	Pathogenic
22	20053570	G	T	G20053570T	TANGO2	NM_152906.7(TANGO2):c.380+19G>T	noncoding	Benign
22	20055847	C	T	C20055847T	TANGO2	NM_152906.7(TANGO2):c.381-96C>T	noncoding	Benign
22	20056177	A	G	A20056177G	TANGO2	NM_152906.7(TANGO2):c.451+164A>G	noncoding	Benign
22	20061340	C	T	C20061340T	TANGO2	NM_152906.7(TANGO2):c.452-190C>T	noncoding	Benign
22	20061721	C	T	C20061721T	TANGO2	NM_152906.7(TANGO2):c.605+38C>T	noncoding	Benign
22	20061762	G	A	G20061762A	TANGO2	NM_152906.7(TANGO2):c.605+79G>A	noncoding	Benign
22	20063339	C	T	C20063339T	TANGO2	NM_152906.7(TANGO2):c.607C>T:p.Gln203Ter	coding	Pathogenic
22	20063380	C	T	C20063380T	TANGO2	NM_152906.7(TANGO2):c.648C>T:p.Tyr216=	coding	Benign
22	20063434	C	T	C20063434T	TANGO2	NM_152906.7(TANGO2):c.702C>T:p.Tyr234=	coding	Benign
22	20063456	G	A	G20063456A	TANGO2	NM_152906.7(TANGO2):c.710+14G>A	noncoding	Benign
22	20064527	C	T	C20064527T	TANGO2	NM_152906.7(TANGO2):c.711-15C>T	noncoding	Benign/Likely_benign
22	20064569	G	A	G20064569A	TANGO2	NM_152906.7(TANGO2):c.738G>A:p.Ala246=	coding	Benign
22	20064779	C	A	C20064779A	TANGO2	NM_152906.7(TANGO2):c.*117C>A	noncoding	Benign
22	20064897	G	A	G20064897A	TANGO2	NM_152906.7(TANGO2):c.*235G>A	noncoding	Benign
22	20064919	A	G	A20064919G	TANGO2	NM_152906.7(TANGO2):c.*257A>G	noncoding	Benign
22	20064958	C	A	C20064958A	TANGO2	NM_152906.7(TANGO2):c.*296C>A	noncoding	Benign
22	20111021	G	A	G20111021A	DGCR8	NM_022720.7(DGCR8):c.*913G>A	noncoding	Benign
22	20425729	G	C	G20425729C	SCARF2	NM_182895.5(SCARF2):c.2247C>G:p.Gly749=	coding	Benign
22	20425789	C	G	C20425789G	SCARF2	NM_182895.5(SCARF2):c.2187G>C:p.Glu729Asp	coding	Benign
22	20425792	C	T	C20425792T	SCARF2	NM_182895.5(SCARF2):c.2184G>A:p.Glu728=	coding	Benign
22	20425795	G	C	G20425795C	SCARF2	NM_182895.5(SCARF2):c.2181C>G:p.Pro727=	coding	Benign
22	20426009	G	A	G20426009A	SCARF2	NM_182895.5(SCARF2):c.1967C>T:p.Pro656Leu	coding	Benign/Likely_benign
22	20426187	C	T	C20426187T	SCARF2	NM_182895.5(SCARF2):c.1789G>A:p.Glu597Lys	coding	Benign
22	20427084	C	T	C20427084T	SCARF2	NM_182895.5(SCARF2):c.1693+314G>A	noncoding	Benign
22	20427086	C	G	C20427086G	SCARF2	NM_182895.5(SCARF2):c.1693+312G>C	noncoding	Benign
22	20427158	A	G	A20427158G	SCARF2	NM_182895.5(SCARF2):c.1693+240T>C	noncoding	Benign
22	20427383	T	C	T20427383C	SCARF2	NM_182895.5(SCARF2):c.1693+15A>G	noncoding	Benign
22	20427445	G	A	G20427445A	SCARF2	NM_182895.5(SCARF2):c.1646C>T:p.Ser549Leu	coding	Benign
22	20427491	G	A	G20427491A	SCARF2	NM_182895.5(SCARF2):c.1600C>T:p.Leu534=	coding	Benign
22	20427540	G	A	G20427540A	SCARF2	NM_182895.5(SCARF2):c.1551C>T:p.His517=	coding	Benign
22	20427815	G	C	G20427815C	SCARF2	NM_182895.5(SCARF2):c.1541-265C>G	noncoding	Benign
22	20427852	G	C	G20427852C	SCARF2	NM_182895.5(SCARF2):c.1541-302C>G	noncoding	Benign
22	20429198	C	A	C20429198A	SCARF2	NM_182895.5(SCARF2):c.1540+27G>T	noncoding	Benign
22	20429434	C	T	C20429434T	SCARF2	NM_182895.5(SCARF2):c.1425-94G>A	noncoding	Benign
22	20429763	T	A	T20429763A	SCARF2	NM_182895.5(SCARF2):c.1273A>T:p.Thr425Ser	coding	Benign
22	20429930	C	T	C20429930T	SCARF2	NM_182895.5(SCARF2):c.1203-97G>A	noncoding	Benign
22	20430263	A	G	A20430263G	SCARF2	NM_182895.5(SCARF2):c.1202+166T>C	noncoding	Benign
22	20430343	C	A	C20430343A	SCARF2	NM_182895.5(SCARF2):c.1202+86G>T	noncoding	Benign
22	20430527	G	T	G20430527T	SCARF2	NM_182895.5(SCARF2):c.1104C>A:p.Tyr368Ter	coding	Pathogenic
22	20430621	T	G	T20430621G	SCARF2	NM_182895.5(SCARF2):c.1074-64A>C	noncoding	Benign
22	20430622	T	A	T20430622A	SCARF2	NM_182895.5(SCARF2):c.1074-65A>T	noncoding	Benign
22	20431221	G	C	G20431221C	SCARF2	NM_182895.5(SCARF2):c.651C>G:p.Cys217Trp	coding	Pathogenic
22	20431352	G	A	G20431352A	SCARF2	NM_182895.5(SCARF2):c.520C>T:p.Pro174Ser	coding	Benign
22	20431839	G	A	G20431839A	SCARF2	NM_182895.5(SCARF2):c.240C>T:p.Cys80=	coding	Benign/Likely_benign
22	20432201	A	C	A20432201C	SCARF2	NM_182895.5(SCARF2):c.174-213T>G	noncoding	Benign
22	20437534	G	A	G20437534A	SCARF2	NM_182895.5(SCARF2):c.173+48C>T	noncoding	Benign
22	20583314	C	T	C20583314T	MED15	NM_001003891.3(MED15):c.1673-16C>T	noncoding	Benign
22	20584836	G	A	G20584836A	MED15	NM_001003891.3(MED15):c.1804-19G>A	noncoding	Benign
22	20707980	G	T	G20707980T	PI4KA	NM_058004.4(PI4KA):c.*67C>A	noncoding	Benign
22	20708278	G	A	G20708278A	PI4KA	NM_058004.4(PI4KA):c.6258-180C>T	noncoding	Benign
22	20708391	G	A	G20708391A	PI4KA	NM_058004.4(PI4KA):c.6258-293C>T	noncoding	Benign
22	20708409	G	A	G20708409A	PI4KA	NM_058004.4(PI4KA):c.6258-311C>T	noncoding	Benign
22	20709664	T	G	T20709664G	PI4KA	NM_058004.4(PI4KA):c.6173+244A>C	noncoding	Benign
22	20709708	C	T	C20709708T	PI4KA	NM_058004.4(PI4KA):c.6173+200G>A	noncoding	Benign
22	20709769	C	T	C20709769T	PI4KA	NM_058004.4(PI4KA):c.6173+139G>A	noncoding	Benign
22	20709832	G	A	G20709832A	PI4KA	NM_058004.4(PI4KA):c.6173+76C>T	noncoding	Benign
22	20710068	A	C	A20710068C	PI4KA	NM_058004.4(PI4KA):c.6084-71T>G	noncoding	Benign
22	20710099	C	T	C20710099T	PI4KA	NM_058004.4(PI4KA):c.6084-102G>A	noncoding	Benign
22	20710913	A	G	A20710913G	PI4KA	NM_058004.4(PI4KA):c.5924-55T>C	noncoding	Benign
22	20710997	A	G	A20710997G	PI4KA	NM_058004.4(PI4KA):c.5924-139T>C	noncoding	Benign
22	20711357	A	G	A20711357G	PI4KA	NM_058004.4(PI4KA):c.5907T>C:p.Gly1969=	coding	Benign
22	20711644	A	T	A20711644T	PI4KA	NM_058004.4(PI4KA):c.5803-183T>A	noncoding	Benign
22	20711702	A	T	A20711702T	PI4KA	NM_058004.4(PI4KA):c.5803-241T>A	noncoding	Benign
22	20712501	A	G	A20712501G	PI4KA	NM_058004.4(PI4KA):c.5787T>C:p.Thr1929=	coding	Benign
22	20712514	C	T	C20712514T	PI4KA	NM_058004.4(PI4KA):c.5774G>A:p.Gly1925Glu	coding	Pathogenic
22	20712609	G	A	G20712609A	PI4KA	NM_058004.4(PI4KA):c.5679C>T:p.Cys1893=	coding	Benign
22	20712642	T	C	T20712642C	PI4KA	NM_058004.4(PI4KA):c.5677-31A>G	noncoding	Benign
22	20712648	C	T	C20712648T	PI4KA	NM_058004.4(PI4KA):c.5677-37G>A	noncoding	Benign
22	20712654	G	T	G20712654T	PI4KA	NM_058004.4(PI4KA):c.5676+39C>A	noncoding	Benign
22	20713371	G	A	G20713371A	PI4KA	NM_058004.4(PI4KA):c.5481C>T:p.Asp1827=	coding	Benign
22	20713518	C	G	C20713518G	PI4KA	NM_058004.4(PI4KA):c.5462-128G>C	noncoding	Benign
22	20713691	C	G	C20713691G	PI4KA	NM_058004.4(PI4KA):c.5462-301G>C	noncoding	Benign
22	20713696	G	T	G20713696T	PI4KA	NM_058004.4(PI4KA):c.5462-306C>A	noncoding	Benign
22	20713737	C	A	C20713737A	PI4KA	NM_058004.4(PI4KA):c.5462-347G>T	noncoding	Benign
22	20714249	G	A	G20714249A	PI4KA	NM_058004.4(PI4KA):c.5461+209C>T	noncoding	Benign
22	20714371	A	G	A20714371G	PI4KA	NM_058004.4(PI4KA):c.5461+87T>C	noncoding	Benign
22	20714562	T	G	T20714562G	PI4KA	NM_058004.4(PI4KA):c.5391-34A>C	noncoding	Benign
22	20714590	C	T	C20714590T	PI4KA	NM_058004.4(PI4KA):c.5390+38G>A	noncoding	Benign
22	20714771	A	T	A20714771T	PI4KA	NM_058004.4(PI4KA):c.5318-71T>A	noncoding	Benign
22	20718368	A	G	A20718368G	PI4KA	NM_058004.4(PI4KA):c.5246+325T>C	noncoding	Benign
22	20718780	G	A	G20718780A	PI4KA	NM_058004.4(PI4KA):c.5159C>T:p.Thr1720Ile	coding	Pathogenic
22	20718834	G	A	G20718834A	PI4KA	NM_058004.4(PI4KA):c.5117-12C>T	noncoding	Benign
22	20718993	C	T	C20718993T	PI4KA	NM_058004.4(PI4KA):c.5117-171G>A	noncoding	Benign
22	20721249	A	C	A20721249C	PI4KA	NM_058004.4(PI4KA):c.5116+49T>G	noncoding	Benign
22	20726260	C	A	C20726260A	PI4KA	NM_058004.4(PI4KA):c.4995+228G>T	noncoding	Benign
22	20727304	A	C	A20727304C	PI4KA	NM_058004.4(PI4KA):c.4867T>G:p.Tyr1623Asp	coding	Pathogenic
22	20727676	C	T	C20727676T	PI4KA	NM_058004.4(PI4KA):c.4773+98G>A	noncoding	Benign
22	20727745	C	T	C20727745T	PI4KA	NM_058004.4(PI4KA):c.4773+29G>A	noncoding	Benign
22	20729329	C	T	C20729329T	PI4KA	NM_058004.4(PI4KA):c.4666G>A:p.Val1556Met	coding	Pathogenic
22	20732993	G	A	G20732993A	PI4KA	NM_058004.4(PI4KA):c.4266C>T:p.Thr1422=	coding	Benign/Likely_benign
22	20733473	G	A	G20733473A	PI4KA	NM_058004.4(PI4KA):c.4160+263C>T	noncoding	Benign
22	20733572	G	T	G20733572T	PI4KA	NM_058004.4(PI4KA):c.4160+164C>A	noncoding	Benign
22	20733858	C	G	C20733858G	PI4KA	NM_058004.4(PI4KA):c.4053-15G>C	noncoding	Benign
22	20734702	T	C	T20734702C	PI4KA	NM_058004.4(PI4KA):c.3742-149A>G	noncoding	Benign
22	20734721	C	T	C20734721T	PI4KA	NM_058004.4(PI4KA):c.3742-168G>A	noncoding	Benign
22	20742629	C	T	C20742629T	PI4KA	NM_058004.4(PI4KA):c.3592G>A:p.Ala1198Thr	coding	Pathogenic
22	20742650	G	A	G20742650A	PI4KA	NM_058004.4(PI4KA):c.3571C>T:p.Gln1191Ter	coding	Pathogenic
22	20743056	G	A	G20743056A	PI4KA	NM_058004.4(PI4KA):c.3457-292C>T	noncoding	Benign
22	20745009	T	C	T20745009C	PI4KA	NM_058004.4(PI4KA):c.3364-289A>G	noncoding	Benign
22	20747671	G	T	G20747671T	PI4KA	NM_058004.4(PI4KA):c.3275C>A:p.Ser1092Ter	coding	Pathogenic
22	20751055	T	C	T20751055C	PI4KA	NM_058004.4(PI4KA):c.3153+238A>G	noncoding	Benign
22	20751068	G	A	G20751068A	PI4KA	NM_058004.4(PI4KA):c.3153+225C>T	noncoding	Benign
22	20751326	C	G	C20751326G	PI4KA	NM_058004.4(PI4KA):c.3120G>C:p.Arg1040=	coding	Benign
22	20751767	G	A	G20751767A	PI4KA	NM_058004.4(PI4KA):c.2988-12C>T	noncoding	Benign
22	20751853	T	C	T20751853C	PI4KA	NM_058004.4(PI4KA):c.2988-98A>G	noncoding	Benign
22	20752865	T	C	T20752865C	PI4KA	NM_058004.4(PI4KA):c.2987+38A>G	noncoding	Benign
22	20753416	G	A	G20753416A	PI4KA	NM_058004.4(PI4KA):c.2792-236C>T	noncoding	Benign
22	20761255	C	A	C20761255A	PI4KA	NM_058004.4(PI4KA):c.2791+49G>T	noncoding	Benign
22	20764532	C	T	C20764532T	PI4KA	NM_058004.4(PI4KA):c.2708+285G>A	noncoding	Benign
22	20764630	T	G	T20764630G	PI4KA	NM_058004.4(PI4KA):c.2708+187A>C	noncoding	Benign
22	20764951	C	T	C20764951T	PI4KA	NM_058004.4(PI4KA):c.2575-1G>A	coding	Pathogenic
22	20765692	A	G	A20765692G	PI4KA	NM_058004.4(PI4KA):c.2330T>C:p.Leu777Pro	coding	Pathogenic
22	20765707	A	T	A20765707T	PI4KA	NM_058004.4(PI4KA):c.2329-14T>A	noncoding	Benign
22	20779597	C	T	C20779597T	PI4KA	NM_058004.4(PI4KA):c.2328+13596G>A	coding	Benign
22	20787012	T	C	T20787012C	PI4KA	NM_058004.4(PI4KA):c.2328+6181A>G	coding	Benign
22	20793005	A	G	A20793005G	PI4KA	NM_058004.4(PI4KA):c.2328+188T>C	noncoding	Benign
22	20796052	T	C	T20796052C	PI4KA	NM_058004.4(PI4KA):c.2277+94A>G	noncoding	Benign
22	20796416	C	G	C20796416G	PI4KA	NM_058004.4(PI4KA):c.2109-102G>C	noncoding	Benign
22	20798280	C	T	C20798280T	PI4KA	NM_058004.4(PI4KA):c.2108+304G>A	noncoding	Benign
22	20798442	T	C	T20798442C	PI4KA	NM_058004.4(PI4KA):c.2108+142A>G	noncoding	Benign
22	20798990	C	T	C20798990T	PI4KA	NM_058004.4(PI4KA):c.2004+103G>A	noncoding	Benign
22	20799302	C	T	C20799302T	PI4KA	NM_058004.4(PI4KA):c.1821-26G>A	noncoding	Benign
22	20799595	C	T	C20799595T	PI4KA	NM_058004.4(PI4KA):c.1820+76G>A	noncoding	Benign
22	20799994	C	A	C20799994A	PI4KA	NM_058004.4(PI4KA):c.1725-228G>T	noncoding	Benign
22	20802904	C	T	C20802904T	PI4KA	NM_058004.4(PI4KA):c.1591+287G>A	noncoding	Benign
22	20804145	A	C	A20804145C	PI4KA	NM_058004.4(PI4KA):c.1461+155T>G	noncoding	Benign
22	20804591	T	A	T20804591A	PI4KA	NM_058004.4(PI4KA):c.1361-191A>T	noncoding	Benign
22	20807276	G	C	G20807276C	PI4KA	NM_058004.4(PI4KA):c.1168+86C>G	noncoding	Benign
22	20813499	G	A	G20813499A	PI4KA	NM_058004.4(PI4KA):c.864C>T:p.Cys288=	coding	Benign
22	20818210	T	C	T20818210C	PI4KA	NM_058004.4(PI4KA):c.856+273A>G	noncoding	Benign
22	20820024	C	A	C20820024A	PI4KA	NM_058004.4(PI4KA):c.530-124G>T	noncoding	Benign
22	20820068	A	G	A20820068G	PI4KA	NM_058004.4(PI4KA):c.530-168T>C	noncoding	Benign
22	20820111	T	C	T20820111C	PI4KA	NM_058004.4(PI4KA):c.530-211A>G	noncoding	Benign
22	20820510	T	C	T20820510C	PI4KA	NM_058004.4(PI4KA):c.529+29A>G	noncoding	Benign
22	20820634	A	G	A20820634G	PI4KA	NM_058004.4(PI4KA):c.457-23T>C	noncoding	Benign
22	20820893	C	G	C20820893G	PI4KA	NM_058004.4(PI4KA):c.457-282G>C	noncoding	Benign
22	20824176	G	A	G20824176A	PI4KA	NM_058004.4(PI4KA):c.456+150C>T	noncoding	Benign
22	20824196	C	G	C20824196G	PI4KA	NM_058004.4(PI4KA):c.456+130G>C	noncoding	Benign
22	20834444	C	A	C20834444A	PI4KA	NM_058004.4(PI4KA):c.367+118G>T	noncoding	Benign
22	20834676	T	C	T20834676C	PI4KA	NM_058004.4(PI4KA):c.274-21A>G	noncoding	Benign
22	20858368	T	C	T20858368C	PI4KA	NM_058004.4(PI4KA):c.156+202A>G	noncoding	Benign
22	20858428	G	A	G20858428A	PI4KA	NM_058004.4(PI4KA):c.156+142C>T	noncoding	Benign
22	20870293	G	A	G20870293A	SNAP29	NM_004782.4(SNAP29):c.238-44G>A	noncoding	Benign
22	20887566	T	C	T20887566C	SNAP29	NM_004782.4(SNAP29):c.620-113T>C	noncoding	Benign
22	20949691	T	C	T20949691C	CRKL	NM_005207.4(CRKL):c.778-20T>C	noncoding	Benign
22	20982392	G	A	G20982392A	LZTR1	NM_006767.4(LZTR1):c.21G>A:p.Thr7=	coding	Benign/Likely_benign
22	20982399	C	T	C20982399T	LZTR1	NM_006767.4(LZTR1):c.28C>T:p.Gln10Ter	coding	Pathogenic
22	20982425	C	G	C20982425G	LZTR1	NM_006767.4(LZTR1):c.54C>G:p.Gly18=	coding	Benign/Likely_benign
22	20982467	T	C	T20982467C	LZTR1	NM_006767.4(LZTR1):c.96T>C:p.His32=	coding	Benign/Likely_benign
22	20982486	G	T	G20982486T	LZTR1	NM_006767.4(LZTR1):c.115G>T:p.Glu39Ter	coding	Pathogenic/Likely_pathogenic
22	20982532	G	A	G20982532A	LZTR1	NM_006767.4(LZTR1):c.161G>A:p.Trp54Ter	coding	Pathogenic
22	20982551	C	A	C20982551A	LZTR1	NM_006767.4(LZTR1):c.180C>A:p.Cys60Ter	coding	Pathogenic
22	20982650	G	A	G20982650A	LZTR1	NM_006767.4(LZTR1):c.200+79G>A	noncoding	Benign
22	20982885	T	A	T20982885A	LZTR1	NM_006767.4(LZTR1):c.201-142T>A	noncoding	Benign
22	20985828	G	A	G20985828A	LZTR1	NM_006767.4(LZTR1):c.264-13G>A	noncoding	Pathogenic/Likely_pathogenic
22	20985891	G	A	G20985891A	LZTR1	NM_006767.4(LZTR1):c.314G>A:p.Trp105Ter	coding	Pathogenic
22	20985910	G	A	G20985910A	LZTR1	NM_006767.4(LZTR1):c.320+13G>A	noncoding	Benign/Likely_benign
22	20987984	G	A	G20987984A	LZTR1	NM_006767.4(LZTR1):c.401-26G>A	noncoding	Benign
22	20988032	T	G	T20988032G	LZTR1	NM_006767.4(LZTR1):c.423T>G:p.Tyr141Ter	coding	Pathogenic
22	20988074	C	G	C20988074G	LZTR1	NM_006767.4(LZTR1):c.465C>G:p.Tyr155Ter	coding	Pathogenic/Likely_pathogenic
22	20988090	C	T	C20988090T	LZTR1	NM_006767.4(LZTR1):c.481C>T:p.Gln161Ter	coding	Pathogenic
22	20988094	G	A	G20988094A	LZTR1	NM_006767.4(LZTR1):c.485G>A:p.Trp162Ter	coding	Pathogenic
22	20988118	G	A	G20988118A	LZTR1	NM_006767.4(LZTR1):c.509G>A:p.Arg170Gln	coding	Pathogenic/Likely_pathogenic
22	20988119	G	A	G20988119A	LZTR1	NM_006767.4(LZTR1):c.509+1G>A	coding	Pathogenic
22	20988801	T	G	T20988801G	LZTR1	NM_006767.4(LZTR1):c.522T>G:p.Ala174=	coding	Benign/Likely_benign
22	20988828	C	G	C20988828G	LZTR1	NM_006767.4(LZTR1):c.549C>G:p.Tyr183Ter	coding	Pathogenic
22	20988842	G	A	G20988842A	LZTR1	NM_006767.4(LZTR1):c.563G>A:p.Trp188Ter	coding	Pathogenic
22	20988858	T	G	T20988858G	LZTR1	NM_006767.4(LZTR1):c.579T>G:p.Tyr193Ter	coding	Pathogenic
22	20988883	G	A	G20988883A	LZTR1	NM_006767.4(LZTR1):c.593+11G>A	noncoding	Benign
22	20989623	A	G	A20989623G	LZTR1	NM_006767.4(LZTR1):c.594-2A>G	noncoding	Pathogenic
22	20989653	C	T	C20989653T	LZTR1	NM_006767.4(LZTR1):c.622C>T:p.Gln208Ter	coding	Pathogenic
22	20989675	G	A	G20989675A	LZTR1	NM_006767.4(LZTR1):c.644G>A:p.Trp215Ter	coding	Pathogenic
22	20989676	G	A	G20989676A	LZTR1	NM_006767.4(LZTR1):c.645G>A:p.Trp215Ter	coding	Pathogenic
22	20989680	G	T	G20989680T	LZTR1	NM_006767.4(LZTR1):c.649G>T:p.Glu217Ter	coding	Pathogenic/Likely_pathogenic
22	20989706	C	T	C20989706T	LZTR1	NM_006767.4(LZTR1):c.651+24C>T	noncoding	Benign
22	20990412	A	T	A20990412T	LZTR1	NM_006767.4(LZTR1):c.678A>T:p.Pro226=	coding	Benign/Likely_benign
22	20990418	C	A	C20990418A	LZTR1	NM_006767.4(LZTR1):c.684C>A:p.Cys228Ter	coding	Pathogenic
22	20990442	C	A	C20990442A	LZTR1	NM_006767.4(LZTR1):c.708C>A:p.Cys236Ter	coding	Pathogenic/Likely_pathogenic
22	20991418	G	A	G20991418A	LZTR1	NM_006767.4(LZTR1):c.792-210G>A	noncoding	Benign
22	20991480	C	T	C20991480T	LZTR1	NM_006767.4(LZTR1):c.792-148C>T	noncoding	Benign
22	20991630	G	A	G20991630A	LZTR1	NM_006767.4(LZTR1):c.794G>A:p.Trp265Ter	coding	Pathogenic
22	20991691	C	T	C20991691T	LZTR1	NM_006767.4(LZTR1):c.855C>T:p.Tyr285=	coding	Benign/Likely_benign
22	20991727	T	A	T20991727A	LZTR1	NM_006767.4(LZTR1):c.891T>A:p.Tyr297Ter	coding	Pathogenic
22	20991742	G	A	G20991742A	LZTR1	NM_006767.4(LZTR1):c.906G>A:p.Ala302=	coding	Benign/Likely_benign
22	20991781	C	T	C20991781T	LZTR1	NM_006767.4(LZTR1):c.945C>T:p.Asp315=	coding	Benign/Likely_benign
22	20991791	C	T	C20991791T	LZTR1	NM_006767.4(LZTR1):c.955C>T:p.Gln319Ter	coding	Pathogenic
22	20991799	G	A	G20991799A	LZTR1	NM_006767.4(LZTR1):c.963G>A:p.Trp321Ter	coding	Pathogenic
22	20991827	G	T	G20991827T	LZTR1	NM_006767.4(LZTR1):c.991G>T:p.Glu331Ter	coding	Pathogenic
22	20992095	C	T	C20992095T	LZTR1	NM_006767.4(LZTR1):c.994-119C>T	noncoding	Benign
22	20992253	G	T	G20992253T	LZTR1	NM_006767.4(LZTR1):c.1033G>T:p.Glu345Ter	coding	Pathogenic/Likely_pathogenic
22	20992346	C	T	C20992346T	LZTR1	NM_006767.4(LZTR1):c.1126C>T:p.Gln376Ter	coding	Pathogenic
22	20992355	C	T	C20992355T	LZTR1	NM_006767.4(LZTR1):c.1135C>T:p.Gln379Ter	coding	Pathogenic
22	20992370	G	A	G20992370A	LZTR1	NM_006767.4(LZTR1):c.1149+1G>A	coding	Pathogenic/Likely_pathogenic
22	20992385	C	A	C20992385A	LZTR1	NM_006767.4(LZTR1):c.1149+16C>A	noncoding	Benign
22	20992808	G	A	G20992808A	LZTR1	NM_006767.4(LZTR1):c.1164G>A:p.Arg388=	coding	Benign/Likely_benign
22	20992834	C	A	C20992834A	LZTR1	NM_006767.4(LZTR1):c.1190C>A:p.Ser397Ter	coding	Pathogenic
22	20992887	G	T	G20992887T	LZTR1	NM_006767.4(LZTR1):c.1243G>T:p.Glu415Ter	coding	Pathogenic
22	20992895	C	G	C20992895G	LZTR1	NM_006767.4(LZTR1):c.1251C>G:p.Tyr417Ter	coding	Pathogenic/Likely_pathogenic
22	20992902	C	T	C20992902T	LZTR1	NM_006767.4(LZTR1):c.1258C>T:p.Gln420Ter	coding	Pathogenic
22	20992920	G	A	G20992920A	LZTR1	NM_006767.4(LZTR1):c.1260+16G>A	noncoding	Benign/Likely_benign
22	20993575	G	T	G20993575T	LZTR1	NM_006767.4(LZTR1):c.1261-87G>T	noncoding	Benign
22	20993673	C	G	C20993673G	LZTR1	NM_006767.4(LZTR1):c.1272C>G:p.Tyr424Ter	coding	Pathogenic
22	20993692	G	T	G20993692T	LZTR1	NM_006767.4(LZTR1):c.1291G>T:p.Glu431Ter	coding	Pathogenic
22	20993711	G	A	G20993711A	LZTR1	NM_006767.4(LZTR1):c.1310G>A:p.Trp437Ter	coding	Pathogenic
22	20993713	G	T	G20993713T	LZTR1	NM_006767.4(LZTR1):c.1312G>T:p.Glu438Ter	coding	Pathogenic
22	20993730	C	T	C20993730T	LZTR1	NM_006767.4(LZTR1):c.1329C>T:p.Cys443=	coding	Benign/Likely_benign
22	20993770	C	T	C20993770T	LZTR1	NM_006767.4(LZTR1):c.1353+16C>T	noncoding	Benign/Likely_benign
22	20993930	G	T	G20993930T	LZTR1	NM_006767.4(LZTR1):c.1360G>T:p.Glu454Ter	coding	Pathogenic
22	20993976	G	A	G20993976A	LZTR1	NM_006767.4(LZTR1):c.1406G>A:p.Trp469Ter	coding	Pathogenic
22	20993986	G	A	G20993986A	LZTR1	NM_006767.4(LZTR1):c.1416G>A:p.Arg472=	coding	Benign
22	20993996	C	T	C20993996T	LZTR1	NM_006767.4(LZTR1):c.1426C>T:p.Gln476Ter	coding	Pathogenic
22	20994017	C	T	C20994017T	LZTR1	NM_006767.4(LZTR1):c.1447C>T:p.Gln483Ter	coding	Pathogenic/Likely_pathogenic
22	20994028	C	G	C20994028G	LZTR1	NM_006767.4(LZTR1):c.1449+9C>G	noncoding	Benign
22	20994059	G	T	G20994059T	LZTR1	NM_006767.4(LZTR1):c.1449+40G>T	noncoding	Benign
22	20994113	C	T	C20994113T	LZTR1	NM_006767.4(LZTR1):c.1459C>T:p.Gln487Ter	coding	Pathogenic
22	20994116	G	T	G20994116T	LZTR1	NM_006767.4(LZTR1):c.1462G>T:p.Glu488Ter	coding	Pathogenic
22	20994202	C	T	C20994202T	LZTR1	NM_006767.4(LZTR1):c.1548C>T:p.Ala516=	coding	Benign/Likely_benign
22	20994217	C	T	C20994217T	LZTR1	NM_006767.4(LZTR1):c.1563C>T:p.Phe521=	coding	Benign/Likely_benign
22	20994230	C	T	C20994230T	LZTR1	NM_006767.4(LZTR1):c.1576C>T:p.Gln526Ter	coding	Pathogenic
22	20994241	C	A	C20994241A	LZTR1	NM_006767.4(LZTR1):c.1587C>A:p.Tyr529Ter	coding	Pathogenic
22	20994259	C	A	C20994259A	LZTR1	NM_006767.4(LZTR1):c.1605C>A:p.Tyr535Ter	coding	Pathogenic
22	20994266	A	T	A20994266T	LZTR1	NM_006767.4(LZTR1):c.1612A>T:p.Lys538Ter	coding	Pathogenic
22	20994595	C	G	C20994595G	LZTR1	NM_006767.4(LZTR1):c.1653C>G:p.Tyr551Ter	coding	Pathogenic
22	20994614	C	T	C20994614T	LZTR1	NM_006767.4(LZTR1):c.1672C>T:p.Gln558Ter	coding	Pathogenic
22	20994632	C	T	C20994632T	LZTR1	NM_006767.4(LZTR1):c.1690C>T:p.Gln564Ter	coding	Pathogenic
22	20994640	C	A	C20994640A	LZTR1	NM_006767.4(LZTR1):c.1698C>A:p.Cys566Ter	coding	Pathogenic
22	20994665	G	A	G20994665A	LZTR1	NM_006767.4(LZTR1):c.1723G>A:p.Asp575Asn	coding	Benign/Likely_benign
22	20994671	C	T	C20994671T	LZTR1	NM_006767.4(LZTR1):c.1729C>T:p.Gln577Ter	coding	Pathogenic/Likely_pathogenic
22	20994691	C	T	C20994691T	LZTR1	NM_006767.4(LZTR1):c.1749C>T:p.Cys583=	coding	Benign/Likely_benign
22	20994710	C	T	C20994710T	LZTR1	NM_006767.4(LZTR1):c.1768C>T:p.Gln590Ter	coding	Pathogenic
22	20994878	C	A	C20994878A	LZTR1	NM_006767.4(LZTR1):c.1794C>A:p.Cys598Ter	coding	Pathogenic
22	20994912	C	T	C20994912T	LZTR1	NM_006767.4(LZTR1):c.1828C>T:p.Gln610Ter	coding	Pathogenic
22	20994981	C	T	C20994981T	LZTR1	NM_006767.4(LZTR1):c.1897C>T:p.Gln633Ter	coding	Pathogenic
22	20995283	C	T	C20995283T	LZTR1	NM_006767.4(LZTR1):c.1942+257C>T	noncoding	Benign
22	20995693	C	G	C20995693G	LZTR1	NM_006767.4(LZTR1):c.1943-53C>G	noncoding	Benign
22	20995719	C	T	C20995719T	LZTR1	NM_006767.4(LZTR1):c.1943-27C>T	noncoding	Benign
22	20995760	C	T	C20995760T	LZTR1	NM_006767.4(LZTR1):c.1957C>T:p.Gln653Ter	coding	Pathogenic
22	20995777	C	G	C20995777G	LZTR1	NM_006767.4(LZTR1):c.1974C>G:p.Tyr658Ter	coding	Pathogenic
22	20995781	G	T	G20995781T	LZTR1	NM_006767.4(LZTR1):c.1978G>T:p.Glu660Ter	coding	Pathogenic
22	20995966	C	A	C20995966A	LZTR1	NM_006767.4(LZTR1):c.2073C>A:p.Tyr691Ter	coding	Pathogenic
22	20995997	G	T	G20995997T	LZTR1	NM_006767.4(LZTR1):c.2104G>T:p.Glu702Ter	coding	Pathogenic
22	20996006	C	T	C20996006T	LZTR1	NM_006767.4(LZTR1):c.2113C>T:p.Gln705Ter	coding	Pathogenic
22	20996045	C	T	C20996045T	LZTR1	NM_006767.4(LZTR1):c.2152C>T:p.Gln718Ter	coding	Pathogenic
22	20996098	G	A	G20996098A	LZTR1	NM_006767.4(LZTR1):c.2205G>A:p.Pro735=	coding	Benign/Likely_benign
22	20996109	C	A	C20996109A	LZTR1	NM_006767.4(LZTR1):c.2216C>A:p.Ser739Ter	coding	Pathogenic
22	20996356	C	T	C20996356T	LZTR1	NM_006767.4(LZTR1):c.2219+244C>T	noncoding	Benign
22	20996428	G	T	G20996428T	LZTR1	NM_006767.4(LZTR1):c.2220-268G>T	noncoding	Benign
22	20996481	C	T	C20996481T	LZTR1	NM_006767.4(LZTR1):c.2220-215C>T	noncoding	Benign
22	20996699	C	A	C20996699A	LZTR1	NM_006767.4(LZTR1):c.2223C>A:p.Tyr741Ter	coding	Pathogenic
22	20996720	C	G	C20996720G	LZTR1	NM_006767.4(LZTR1):c.2244C>G:p.Tyr748Ter	coding	Pathogenic
22	20996723	C	A	C20996723A	LZTR1	NM_006767.4(LZTR1):c.2247C>A:p.Tyr749Ter	coding	Pathogenic
22	20996732	C	A	C20996732A	LZTR1	NM_006767.4(LZTR1):c.2256C>A:p.Tyr752Ter	coding	Pathogenic
22	20996745	C	T	C20996745T	LZTR1	NM_006767.4(LZTR1):c.2269C>T:p.Gln757Ter	coding	Pathogenic
22	20996750	G	A	G20996750A	LZTR1	NM_006767.4(LZTR1):c.2274G>A:p.Ala758=	coding	Benign/Likely_benign
22	20996753	C	G	C20996753G	LZTR1	NM_006767.4(LZTR1):c.2277C>G:p.Tyr759Ter	coding	Pathogenic
22	20996757	A	T	A20996757T	LZTR1	NM_006767.4(LZTR1):c.2281A>T:p.Lys761Ter	coding	Pathogenic
22	20996760	C	T	C20996760T	LZTR1	NM_006767.4(LZTR1):c.2284C>T:p.Gln762Ter	coding	Pathogenic
22	20996777	C	T	C20996777T	LZTR1	NM_006767.4(LZTR1):c.2301C>T:p.Asn767=	coding	Benign/Likely_benign
22	20996792	C	T	C20996792T	LZTR1	NM_006767.4(LZTR1):c.2316C>T:p.Asn772=	coding	Benign/Likely_benign
22	20996799	C	T	C20996799T	LZTR1	NM_006767.4(LZTR1):c.2323C>T:p.Gln775Ter	coding	Pathogenic
22	20996802	G	T	G20996802T	LZTR1	NM_006767.4(LZTR1):c.2325+1G>T	coding	Pathogenic
22	20997357	G	A	G20997357A	LZTR1	NM_006767.4(LZTR1):c.*9G>A	noncoding	Benign
22	20997360	G	A	G20997360A	LZTR1	NM_006767.4(LZTR1):c.*12G>A	noncoding	Benign
22	22556814	A	G	A22556814G	PRAME	NM_206956.3(PRAME):c.19T>C:p.Trp7Arg	coding	Benign
22	23285182	A	G	A23285182G	BCR	NM_004327.4(BCR):c.2387A>G:p.Asn796Ser	coding	Benign
22	23573056	C	T	C23573056T	IGLL1	Single_allele	noncoding	Benign
22	23573153	T	G	T23573153G	IGLL1	NM_020070.4(IGLL1):c.*113A>C	noncoding	Benign
22	23573183	G	A	G23573183A	IGLL1	NM_020070.4(IGLL1):c.*83C>T	noncoding	Benign
22	23573387	G	A	G23573387A	IGLL1	NM_020070.4(IGLL1):c.521C>T:p.Ala174Val	coding	Benign
22	23573465	G	A	G23573465A	IGLL1	NM_020070.4(IGLL1):c.443C>T:p.Thr148Ile	coding	Benign
22	23573689	C	T	C23573689T	IGLL1	NM_020070.4(IGLL1):c.323-104G>A	noncoding	Benign
22	23573702	G	A	G23573702A	IGLL1	NM_020070.4(IGLL1):c.323-117C>T	noncoding	Benign
22	23573750	G	C	G23573750C	IGLL1	NM_020070.4(IGLL1):c.323-165C>G	noncoding	Benign
22	23574748	C	T	C23574748T	IGLL1	NM_020070.4(IGLL1):c.322+219G>A	noncoding	Benign
22	23575035	C	A	C23575035A	IGLL1	NM_020070.4(IGLL1):c.254G>T:p.Arg85Leu	coding	Benign
22	23580034	C	A	C23580034A	IGLL1	NM_020070.4(IGLL1):c.157G>T:p.Gly53Ter	coding	Pathogenic
22	23580365	G	A	G23580365A	IGLL1	Single_allele	noncoding	Benign
22	23765747	C	T	C23765747T	CHCHD10	NM_182520.3(C22orf15):c.*15C>T	noncoding	Benign
22	23765813	C	G	C23765813G	CHCHD10	NM_182520.3(C22orf15):c.*81C>G	noncoding	Benign
22	23766101	C	G	C23766101G	CHCHD10	NM_213720.3(CHCHD10):c.409+27G>C	noncoding	Benign
22	23766263	C	G	C23766263G	CHCHD10	NM_213720.3(CHCHD10):c.274G>C:p.Ala92Pro	coding	Benign/Likely_benign
22	23766269	T	G	T23766269G	CHCHD10	NM_213720.3(CHCHD10):c.268A>C:p.Thr90Pro	coding	Benign/Likely_benign
22	23766514	G	A	G23766514A	CHCHD10	NM_213720.3(CHCHD10):c.262-239C>T	noncoding	Benign
22	23766569	T	C	T23766569C	CHCHD10	NM_213720.3(CHCHD10):c.262-294A>G	noncoding	Benign
22	23767098	G	A	G23767098A	CHCHD10	NM_213720.3(CHCHD10):c.261+276C>T	noncoding	Benign
22	23767222	C	T	C23767222T	CHCHD10	NM_213720.3(CHCHD10):c.261+152G>A	noncoding	Benign
22	23767275	T	C	T23767275C	CHCHD10	NM_213720.3(CHCHD10):c.261+99A>G	noncoding	Benign
22	23767463	C	G	C23767463G	CHCHD10	NM_213720.3(CHCHD10):c.172G>C:p.Gly58Arg	coding	Pathogenic
22	23767788	A	C	A23767788C	CHCHD10	NM_213720.3(CHCHD10):c.41+46T>G	noncoding	Benign
22	23787260	G	T	G23787260T	SMARCB1	NM_003073.5(SMARCB1):c.91G>T:p.Glu31Ter	coding	Pathogenic
22	23787608	T	C	T23787608C	SMARCB1	NM_003073.5(SMARCB1):c.93+346T>C	noncoding	Benign
22	23787947	G	A	G23787947A	SMARCB1	NM_003073.5(SMARCB1):c.93+685G>A	noncoding	Benign
22	23788080	C	T	C23788080T	SMARCB1	NM_003073.5(SMARCB1):c.93+818C>T	noncoding	Benign
22	23791599	C	T	C23791599T	SMARCB1	NM_003073.5(SMARCB1):c.94-157C>T	noncoding	Benign
22	23791803	C	A	C23791803A	SMARCB1	NM_003073.5(SMARCB1):c.141C>A:p.Tyr47Ter	coding	Pathogenic
22	23791815	G	A	G23791815A	SMARCB1	NM_003073.5(SMARCB1):c.153G>A:p.Trp51Ter	coding	Pathogenic
22	23792115	T	C	T23792115C	SMARCB1	NM_003073.5(SMARCB1):c.232+221T>C	noncoding	Benign
22	23800790	G	C	G23800790C	SMARCB1	NM_003073.5(SMARCB1):c.363-154G>C	noncoding	Benign
22	23800791	C	T	C23800791T	SMARCB1	NM_003073.5(SMARCB1):c.363-153C>T	noncoding	Benign
22	23800945	G	T	G23800945T	SMARCB1	NM_003073.5(SMARCB1):c.364G>T:p.Glu122Ter	coding	Pathogenic
22	23801053	C	T	C23801053T	SMARCB1	NM_003073.5(SMARCB1):c.472C>T:p.Arg158Ter	coding	Pathogenic
22	23801146	G	A	G23801146A	SMARCB1	NM_003073.5(SMARCB1):c.500+65G>A	noncoding	Benign/Likely_benign
22	23801315	C	G	C23801315G	SMARCB1	NM_003073.5(SMARCB1):c.500+234C>G	noncoding	Benign
22	23801964	T	G	T23801964G	SMARCB1	NM_003073.5(SMARCB1):c.500+883T>G	noncoding	Pathogenic
22	23801968	G	A	G23801968A	SMARCB1	NM_003073.5(SMARCB1):c.500+887G>A	noncoding	Pathogenic
22	23803208	A	G	A23803208G	SMARCB1	NM_003073.5(SMARCB1):c.501-87A>G	noncoding	Benign
22	23803488	G	C	G23803488C	SMARCB1	NM_003073.5(SMARCB1):c.628+66G>C	noncoding	Benign
22	23816522	A	G	A23816522G	SMARCB1	NM_003073.5(SMARCB1):c.629-248A>G	noncoding	Benign
22	23816712	C	A	C23816712A	SMARCB1	NM_003073.5(SMARCB1):c.629-58C>A	noncoding	Benign
22	23816837	G	A	G23816837A	SMARCB1	NM_003073.5(SMARCB1):c.696G>A:p.Thr232=	coding	Benign/Likely_benign
22	23816919	C	T	C23816919T	SMARCB1	NM_003073.5(SMARCB1):c.778C>T:p.Gln260Ter	coding	Pathogenic
22	23825212	G	T	G23825212T	SMARCB1	NM_003073.5(SMARCB1):c.796-13G>T	noncoding	Benign/Likely_benign
22	23833253	G	T	G23833253T	SMARCB1	NM_003073.5(SMARCB1):c.987-319G>T	noncoding	Benign
22	23833396	A	C	A23833396C	SMARCB1	NM_003073.5(SMARCB1):c.987-176A>C	noncoding	Benign
22	23833572	C	T	C23833572T	SMARCB1	NM_003073.5(SMARCB1):c.987C>T:p.Ser329=	coding	Benign/Likely_benign
22	23833672	A	G	A23833672G	SMARCB1	NM_003073.5(SMARCB1):c.1087A>G:p.Lys363Glu	coding	Pathogenic/Likely_pathogenic
22	23836864	G	A	G23836864A	DERL3;SMARCB1	NM_001002862.3(DERL3):c.*5C>T	coding	Benign
22	24036130	T	G	T24036130G	CABIN1	NM_012295.4(CABIN1):c.45T>G:p.Asp15Glu	coding	Benign
22	24050841	G	A	G24050841A	CABIN1	NM_012295.4(CABIN1):c.673G>A:p.Asp225Asn	coding	Benign
22	24059442	G	C	G24059442C	CABIN1	NM_012295.4(CABIN1):c.1399+79G>C	noncoding	Benign
22	24059992	C	T	C24059992T	CABIN1	NM_012295.4(CABIN1):c.1468C>T:p.Arg490Cys	coding	Benign
22	24060245	T	C	T24060245C	CABIN1	NM_012295.4(CABIN1):c.1617+104T>C	noncoding	Benign
22	24062938	C	T	C24062938T	CABIN1	NM_012295.4(CABIN1):c.1697-21C>T	noncoding	Benign
22	24064130	A	C	A24064130C	CABIN1	NM_012295.4(CABIN1):c.1980A>C:p.Arg660Ser	coding	Benign
22	24067172	T	G	T24067172G	CABIN1	NM_012295.4(CABIN1):c.2223T>G:p.Leu741=	coding	Benign
22	24072436	G	A	G24072436A	CABIN1	NM_012295.4(CABIN1):c.2558G>A:p.Arg853Gln	coding	Benign
22	24076020	C	A	C24076020A	CABIN1	NM_012295.4(CABIN1):c.2633-149C>A	noncoding	Benign
22	24076224	C	T	C24076224T	CABIN1	NM_012295.4(CABIN1):c.2688C>T:p.His896=	coding	Benign
22	24083240	C	G	C24083240G	CABIN1	NM_012295.4(CABIN1):c.2761C>G:p.Gln921Glu	coding	Benign
22	24091785	G	A	G24091785A	CABIN1	NM_012295.4(CABIN1):c.3728G>A:p.Arg1243His	coding	Benign
22	24113868	C	T	C24113868T	CABIN1	NM_012295.4(CABIN1):c.4300+120C>T	noncoding	Benign
22	24164286	C	G	C24164286G	CABIN1	NM_012295.4(CABIN1):c.4747-114C>G	noncoding	Benign
22	24165396	A	G	A24165396G	CABIN1	NM_012295.4(CABIN1):c.4911-134A>G	noncoding	Benign
22	24168509	C	T	C24168509T	CABIN1	NM_012295.4(CABIN1):c.5745C>T:p.Ala1915=	coding	Benign
22	24168680	G	T	G24168680T	CABIN1	NM_012295.4(CABIN1):c.5757+159G>T	noncoding	Benign
22	24168814	C	T	C24168814T	CABIN1	NM_012295.4(CABIN1):c.5757+293C>T	noncoding	Benign
22	24171538	C	G	C24171538G	CABIN1	NM_012295.4(CABIN1):c.5758-175C>G	noncoding	Benign
22	24171640	C	T	C24171640T	CABIN1	NM_012295.4(CABIN1):c.5758-73C>T	noncoding	Benign
22	24171776	G	C	G24171776C	CABIN1	NM_012295.4(CABIN1):c.5821G>C:p.Val1941Leu	coding	Benign
22	24172041	A	G	A24172041G	CABIN1	NM_012295.4(CABIN1):c.6040+46A>G	noncoding	Benign
22	24175884	G	A	G24175884A	CABIN1	NM_012295.4(CABIN1):c.6041-227G>A	noncoding	Benign
22	24176066	G	A	G24176066A	CABIN1	NM_012295.4(CABIN1):c.6041-45G>A	noncoding	Benign
22	24177467	G	A	G24177467A	CABIN1	NM_012295.4(CABIN1):c.6206-37G>A	noncoding	Benign
22	24178321	T	C	T24178321C	CABIN1	NM_012295.4(CABIN1):c.*125T>C	noncoding	Benign
22	24186073	A	G	A24186073G	SUSD2	NM_019601.4(SUSD2):c.1397A>G:p.Asn466Ser	coding	Benign
22	24321550	G	A	G24321550A	SPECC1L	NM_015330.6(SPECC1L):c.570G>A:p.Thr190=	coding	Benign
22	24321580	A	T	A24321580T	SPECC1L	NM_015330.6(SPECC1L):c.600A>T:p.Leu200Phe	coding	Benign
22	24321852	A	G	A24321852G	SPECC1L	NM_015330.6(SPECC1L):c.872A>G:p.Tyr291Cys	coding	Benign
22	24322175	C	G	C24322175G	SPECC1L	NM_015330.6(SPECC1L):c.1195C>G:p.Arg399Gly	coding	Pathogenic
22	24322226	G	A	G24322226A	SPECC1L	NM_015330.6(SPECC1L):c.1246G>A:p.Ala416Thr	coding	Pathogenic/Likely_pathogenic
22	24322229	A	C	A24322229C	SPECC1L	NM_015330.6(SPECC1L):c.1249A>C:p.Thr417Pro	coding	Pathogenic/Likely_pathogenic
22	24323117	C	G	C24323117G	SPECC1L	NM_015330.6(SPECC1L):c.1938+199C>G	noncoding	Benign
22	24330549	G	A	G24330549A	SPECC1L	NM_015330.6(SPECC1L):c.2396+118G>A	noncoding	Benign
22	24334372	C	T	C24334372T	SPECC1L	NM_015330.6(SPECC1L):c.2397-38C>T	noncoding	Benign
22	24334619	C	T	C24334619T	SPECC1L	NM_015330.6(SPECC1L):c.2560+46C>T	noncoding	Benign
22	24338491	A	G	A24338491G	SPECC1L	NM_015330.6(SPECC1L):c.2652+14A>G	noncoding	Benign
22	24347186	A	G	A24347186G	SPECC1L	NM_015330.6(SPECC1L):c.2743+10A>G	noncoding	Benign
22	24369036	T	G	T24369036G	SPECC1L	NM_015330.6(SPECC1L):c.2985-182T>G	noncoding	Benign
22	24369084	T	C	T24369084C	SPECC1L	NM_015330.6(SPECC1L):c.2985-134T>C	noncoding	Benign
22	24411375	G	T	G24411375T	SPECC1L	NM_015330.6(SPECC1L):c.3088-213G>T	noncoding	Benign
22	24412467	G	A	G24412467A	SPECC1L	NM_015330.6(SPECC1L):c.3205-181G>A	noncoding	Benign
22	24502201	C	T	C24502201T	UPB1	NM_016327.3(UPB1):c.352C>T:p.Gln118Ter	coding	Pathogenic
22	24502219	T	G	T24502219G	UPB1	NM_016327.3(UPB1):c.364+6T>G	noncoding	Pathogenic
22	24520371	T	C	T24520371C	UPB1	NM_016327.3(UPB1):c.792-16T>C	noncoding	Benign
22	24523736	A	T	A24523736T	UPB1	NM_016327.3(UPB1):c.1034A>T:p.Asn345Ile	coding	Pathogenic
22	24610949	T	C	T24610949C	GGT1	NM_001288833.2(GGT1):c.-7-126T>C	noncoding	Benign
22	24611165	A	G	A24611165G	GGT1	NM_001288833.2(GGT1):c.84A>G:p.Ser28=	coding	Benign
22	24611384	A	G	A24611384G	GGT1	NM_001288833.2(GGT1):c.164+139A>G	noncoding	Benign
22	24614779	T	C	T24614779C	GGT1	NM_001288833.2(GGT1):c.168T>C:p.Asp56=	coding	Benign
22	24614918	G	A	G24614918A	GGT1	NM_001288833.2(GGT1):c.295+12G>A	noncoding	Benign
22	24614974	G	A	G24614974A	GGT1	NM_001288833.2(GGT1):c.296-67G>A	noncoding	Benign
22	24614976	T	C	T24614976C	GGT1	NM_001288833.2(GGT1):c.296-65T>C	noncoding	Benign
22	24615000	G	C	G24615000C	GGT1	NM_001288833.2(GGT1):c.296-41G>C	noncoding	Benign
22	24615142	A	C	A24615142C	GGT1	NM_001288833.2(GGT1):c.382+15A>C	noncoding	Benign
22	24615302	T	C	T24615302C	GGT1	NM_001288833.2(GGT1):c.382+175T>C	noncoding	Benign
22	24615353	T	C	T24615353C	GGT1	NM_001288833.2(GGT1):c.382+226T>C	noncoding	Benign
22	24615365	A	G	A24615365G	GGT1	NM_001288833.2(GGT1):c.382+238A>G	noncoding	Benign
22	24620239	A	G	A24620239G	GGT1	NM_001288833.2(GGT1):c.383-89A>G	noncoding	Benign
22	24620240	T	C	T24620240C	GGT1	NM_001288833.2(GGT1):c.383-88T>C	noncoding	Benign
22	24620344	G	A	G24620344A	GGT1	NM_001288833.2(GGT1):c.399G>A:p.Ala133=	coding	Benign
22	24620475	C	T	C24620475T	GGT1	NM_001288833.2(GGT1):c.530C>T:p.Ala177Val	coding	Benign
22	24620770	A	G	A24620770G	GGT1	NM_001288833.2(GGT1):c.576-143A>G	noncoding	Benign
22	24623188	T	C	T24623188C	GGT1	NM_001288833.2(GGT1):c.815T>C:p.Val272Ala	coding	Benign
22	24623400	T	C	T24623400C	GGT1	NM_001288833.2(GGT1):c.883+144T>C	noncoding	Benign
22	24623431	C	T	C24623431T	GGT1	NM_001288833.2(GGT1):c.883+175C>T	noncoding	Benign
22	24627357	A	G	A24627357G	GGT1	NM_001288833.2(GGT1):c.1021-75A>G	noncoding	Benign
22	24627387	A	C	A24627387C	GGT1	NM_001288833.2(GGT1):c.1021-45A>C	noncoding	Benign
22	24627391	T	C	T24627391C	GGT1	NM_001288833.2(GGT1):c.1021-41T>C	noncoding	Benign
22	24627395	T	C	T24627395C	GGT1	NM_001288833.2(GGT1):c.1021-37T>C	noncoding	Benign
22	24627703	C	T	C24627703T	GGT1	NM_001288833.2(GGT1):c.1208+84C>T	noncoding	Benign
22	24627822	C	T	C24627822T	GGT1	NM_001288833.2(GGT1):c.1209-30C>T	noncoding	Benign
22	24628049	C	T	C24628049T	GGT1	NM_001288833.2(GGT1):c.1337-32C>T	noncoding	Benign
22	24628418	A	C	A24628418C	GGT1	NM_001288833.2(GGT1):c.1563+30A>C	noncoding	Benign
22	25201659	C	T	C25201659T	CRYBB3	NM_004076.5(CRYBB3):c.75+188C>T	noncoding	Benign
22	25204025	A	G	A25204025G	CRYBB3	NM_004076.5(CRYBB3):c.327+130A>G	noncoding	Benign
22	25204919	C	A	C25204919A	CRYBB3	NM_004076.5(CRYBB3):c.328-301C>A	noncoding	Benign
22	25205109	G	T	G25205109T	CRYBB3	NM_004076.5(CRYBB3):c.328-111G>T	noncoding	Benign
22	25205359	G	A	G25205359A	CRYBB3	NM_004076.5(CRYBB3):c.467G>A:p.Gly156Glu	coding	Pathogenic
22	25205498	C	T	C25205498T	CRYBB3	NM_004076.5(CRYBB3):c.470+136C>T	noncoding	Benign
22	25205522	C	T	C25205522T	CRYBB3	NM_004076.5(CRYBB3):c.470+160C>T	noncoding	Benign
22	25206741	G	A	G25206741A	CRYBB3	NM_004076.5(CRYBB3):c.471-306G>A	noncoding	Benign
22	25206817	A	G	A25206817G	CRYBB3	NM_004076.5(CRYBB3):c.471-230A>G	noncoding	Benign
22	25206823	G	A	G25206823A	CRYBB3	NM_004076.5(CRYBB3):c.471-224G>A	noncoding	Benign
22	25221379	C	T	C25221379T	CRYBB2	NM_000496.3(CRYBB2):c.-26-25C>T	noncoding	Benign
22	25221635	A	G	A25221635G	CRYBB2	NM_000496.3(CRYBB2):c.54+152A>G	noncoding	Benign
22	25221785	C	G	C25221785G	CRYBB2	NM_000496.3(CRYBB2):c.54+302C>G	noncoding	Benign
22	25225156	C	A	C25225156A	CRYBB2	NM_000496.3(CRYBB2):c.173+120C>A	noncoding	Benign
22	25228082	G	A	G25228082A	CRYBB2	NM_000496.3(CRYBB2):c.306+97G>A	noncoding	Benign
22	25229132	T	A	T25229132A	CRYBB2	NM_000496.3(CRYBB2):c.307-304T>A	noncoding	Benign
22	25229902	G	A	G25229902A	CRYBB2	NM_000496.3(CRYBB2):c.449+324G>A	noncoding	Benign
22	25231536	G	A	G25231536A	CRYBB2	NM_000496.3(CRYBB2):c.450-68G>A	noncoding	Benign
22	25231624	C	T	C25231624T	CRYBB2	NM_000496.3(CRYBB2):c.470C>T:p.Pro157Leu	coding	Pathogenic
22	25231625	C	T	C25231625T	CRYBB2	NM_000496.3(CRYBB2):c.471C>T:p.Pro157=	coding	Pathogenic
22	25231716	C	T	C25231716T	CRYBB2	NM_000496.3(CRYBB2):c.562C>T:p.Arg188Cys	coding	Pathogenic/Likely_pathogenic
22	25231933	A	T	A25231933T	CRYBB2	Single_allele	noncoding	Benign
22	25232032	C	T	C25232032T	CRYBB2	Single_allele	noncoding	Benign
22	25746525	A	C	A25746525C	MYO18B	NM_032608.7(MYO18B):c.-110+4232A>C	noncoding	Benign
22	25761101	C	G	C25761101G	MYO18B	NM_032608.7(MYO18B):c.9C>G:p.Ile3Met	coding	Benign
22	25761177	A	G	A25761177G	MYO18B	NM_032608.7(MYO18B):c.39+46A>G	noncoding	Benign
22	25761332	T	C	T25761332C	MYO18B	NM_032608.7(MYO18B):c.39+201T>C	noncoding	Benign
22	25761342	G	C	G25761342C	MYO18B	NM_032608.7(MYO18B):c.39+211G>C	noncoding	Benign
22	25761347	C	A	C25761347A	MYO18B	NM_032608.7(MYO18B):c.39+216C>A	noncoding	Benign
22	25761350	G	C	G25761350C	MYO18B	NM_032608.7(MYO18B):c.39+219G>C	noncoding	Benign
22	25762943	C	G	C25762943G	MYO18B	NM_032608.7(MYO18B):c.40-288C>G	noncoding	Benign
22	25763265	C	T	C25763265T	MYO18B	NM_032608.7(MYO18B):c.74C>T:p.Ser25Leu	coding	Benign
22	25763322	G	A	G25763322A	MYO18B	NM_032608.7(MYO18B):c.131G>A:p.Gly44Glu	coding	Benign
22	25763676	A	C	A25763676C	MYO18B	NM_032608.7(MYO18B):c.198+287A>C	noncoding	Benign
22	25768029	T	C	T25768029C	MYO18B	NM_032608.7(MYO18B):c.199-86T>C	noncoding	Benign
22	25768112	C	T	C25768112T	MYO18B	NM_032608.7(MYO18B):c.199-3C>T	noncoding	Benign
22	25768446	C	T	C25768446T	MYO18B	NM_032608.7(MYO18B):c.530C>T:p.Pro177Leu	coding	Benign
22	25768852	A	G	A25768852G	MYO18B	NM_032608.7(MYO18B):c.936A>G:p.Gln312=	coding	Benign
22	25769386	G	A	G25769386A	MYO18B	NM_032608.7(MYO18B):c.1470G>A:p.Pro490=	coding	Benign
22	25769547	T	C	T25769547C	MYO18B	NM_032608.7(MYO18B):c.1512+119T>C	noncoding	Benign
22	25769840	G	A	G25769840A	MYO18B	NM_032608.7(MYO18B):c.1513-270G>A	noncoding	Benign
22	25769946	G	C	G25769946C	MYO18B	NM_032608.7(MYO18B):c.1513-164G>C	noncoding	Benign
22	25770044	C	A	C25770044A	MYO18B	NM_032608.7(MYO18B):c.1513-66C>A	noncoding	Benign
22	25770933	G	C	G25770933C	MYO18B	NM_032608.7(MYO18B):c.1641G>C:p.Trp547Cys	coding	Benign
22	25771003	C	T	C25771003T	MYO18B	NM_032608.7(MYO18B):c.1692+19C>T	noncoding	Benign
22	25771118	T	C	T25771118C	MYO18B	NM_032608.7(MYO18B):c.1692+134T>C	noncoding	Benign
22	25771147	G	A	G25771147A	MYO18B	NM_032608.7(MYO18B):c.1692+163G>A	noncoding	Benign
22	25772262	G	A	G25772262A	MYO18B	NM_032608.7(MYO18B):c.1693-72G>A	noncoding	Benign
22	25772591	A	G	A25772591G	MYO18B	NM_032608.7(MYO18B):c.1869+81A>G	noncoding	Benign
22	25777517	G	A	G25777517A	MYO18B	NM_032608.7(MYO18B):c.1870-66G>A	noncoding	Benign
22	25777694	T	C	T25777694C	MYO18B	NM_032608.7(MYO18B):c.1981T>C:p.Trp661Arg	coding	Benign
22	25777921	G	C	G25777921C	MYO18B	NM_032608.7(MYO18B):c.2068+140G>C	noncoding	Benign
22	25779777	T	G	T25779777G	MYO18B	NM_032608.7(MYO18B):c.2069-279T>G	noncoding	Benign
22	25780096	C	T	C25780096T	MYO18B	NM_032608.7(MYO18B):c.2109C>T:p.Phe703=	coding	Benign
22	25781541	C	T	C25781541T	MYO18B	NM_032608.7(MYO18B):c.2212-193C>T	noncoding	Benign
22	25781626	G	A	G25781626A	MYO18B	NM_032608.7(MYO18B):c.2212-108G>A	noncoding	Benign
22	25781953	G	A	G25781953A	MYO18B	NM_032608.7(MYO18B):c.2312+119G>A	noncoding	Benign
22	25785627	T	C	T25785627C	MYO18B	NM_032608.7(MYO18B):c.2376+136T>C	noncoding	Benign
22	25797857	C	T	C25797857T	MYO18B	NM_032608.7(MYO18B):c.2377-96C>T	noncoding	Benign
22	25798015	C	G	C25798015G	MYO18B	NM_032608.7(MYO18B):c.2439C>G:p.Leu813=	coding	Benign
22	25798078	T	C	T25798078C	MYO18B	NM_032608.7(MYO18B):c.2502T>C:p.Gly834=	coding	Benign
22	25798126	G	A	G25798126A	MYO18B	NM_032608.7(MYO18B):c.2521+29G>A	noncoding	Benign
22	25798224	C	T	C25798224T	MYO18B	NM_032608.7(MYO18B):c.2521+127C>T	noncoding	Benign
22	25798275	T	G	T25798275G	MYO18B	NM_032608.7(MYO18B):c.2521+178T>G	noncoding	Benign
22	25823445	T	C	T25823445C	MYO18B	NM_032608.7(MYO18B):c.2522-60T>C	noncoding	Benign
22	25823638	G	A	G25823638A	MYO18B	NM_032608.7(MYO18B):c.2655G>A:p.Gly885=	coding	Benign
22	25823797	C	T	C25823797T	MYO18B	NM_032608.7(MYO18B):c.2695+119C>T	noncoding	Benign
22	25826280	T	C	T25826280C	MYO18B	NM_032608.7(MYO18B):c.2696-129T>C	noncoding	Benign
22	25826487	C	T	C25826487T	MYO18B	NM_032608.7(MYO18B):c.2774C>T:p.Ser925Leu	coding	Benign
22	25826538	G	A	G25826538A	MYO18B	NM_032608.7(MYO18B):c.2786+39G>A	noncoding	Benign
22	25828665	G	A	G25828665A	MYO18B	NM_032608.7(MYO18B):c.2787-111G>A	noncoding	Benign
22	25828737	T	C	T25828737C	MYO18B	NM_032608.7(MYO18B):c.2787-39T>C	noncoding	Benign
22	25829177	G	A	G25829177A	MYO18B	NM_032608.7(MYO18B):c.2979+209G>A	noncoding	Benign
22	25832830	A	G	A25832830G	MYO18B	NM_032608.7(MYO18B):c.2980-87A>G	noncoding	Benign
22	25832838	C	T	C25832838T	MYO18B	NM_032608.7(MYO18B):c.2980-79C>T	noncoding	Benign
22	25832946	G	A	G25832946A	MYO18B	NM_032608.7(MYO18B):c.3009G>A:p.Pro1003=	coding	Benign
22	25833175	G	A	G25833175A	MYO18B	NM_032608.7(MYO18B):c.3060+178G>A	noncoding	Benign
22	25833244	G	A	G25833244A	MYO18B	NM_032608.7(MYO18B):c.3060+247G>A	noncoding	Benign
22	25835000	A	G	A25835000G	MYO18B	NM_032608.7(MYO18B):c.3061-296A>G	noncoding	Benign
22	25835345	G	C	G25835345C	MYO18B	NM_032608.7(MYO18B):c.3110G>C:p.Trp1037Ser	coding	Benign
22	25835557	A	G	A25835557G	MYO18B	NM_032608.7(MYO18B):c.3208+114A>G	noncoding	Benign
22	25835630	A	G	A25835630G	MYO18B	NM_032608.7(MYO18B):c.3208+187A>G	noncoding	Benign
22	25835721	G	A	G25835721A	MYO18B	NM_032608.7(MYO18B):c.3208+278G>A	noncoding	Benign
22	25843522	G	A	G25843522A	MYO18B	NM_032608.7(MYO18B):c.3209-213G>A	noncoding	Benign
22	25843731	C	T	C25843731T	MYO18B	NM_032608.7(MYO18B):c.3209-4C>T	noncoding	Benign
22	25843883	C	A	C25843883A	MYO18B	NM_032608.7(MYO18B):c.3357C>A:p.His1119Gln	coding	Benign
22	25843939	A	G	A25843939G	MYO18B	NM_032608.7(MYO18B):c.3368+45A>G	noncoding	Benign
22	25843945	T	A	T25843945A	MYO18B	NM_032608.7(MYO18B):c.3368+51T>A	noncoding	Benign
22	25843983	A	G	A25843983G	MYO18B	NM_032608.7(MYO18B):c.3368+89A>G	noncoding	Benign
22	25845804	G	C	G25845804C	MYO18B	NM_032608.7(MYO18B):c.3369-296G>C	noncoding	Benign
22	25845930	C	A	C25845930A	MYO18B	NM_032608.7(MYO18B):c.3369-170C>A	noncoding	Benign
22	25845961	G	A	G25845961A	MYO18B	NM_032608.7(MYO18B):c.3369-139G>A	noncoding	Benign
22	25846027	T	C	T25846027C	MYO18B	NM_032608.7(MYO18B):c.3369-73T>C	noncoding	Benign
22	25846262	C	T	C25846262T	MYO18B	NM_032608.7(MYO18B):c.3531C>T:p.Cys1177=	coding	Benign
22	25846522	G	A	G25846522A	MYO18B	NM_032608.7(MYO18B):c.3552+239G>A	noncoding	Benign
22	25846554	G	C	G25846554C	MYO18B	NM_032608.7(MYO18B):c.3552+271G>C	noncoding	Benign
22	25847092	T	G	T25847092G	MYO18B	NM_032608.7(MYO18B):c.3553-338T>G	noncoding	Benign
22	25847419	A	G	A25847419G	MYO18B	NM_032608.7(MYO18B):c.3553-11A>G	noncoding	Benign
22	25847507	C	T	C25847507T	MYO18B	NM_032608.7(MYO18B):c.3630C>T:p.Ser1210=	coding	Benign
22	25851489	G	A	G25851489A	MYO18B	NM_032608.7(MYO18B):c.3795G>A:p.Gly1265=	coding	Benign
22	25851640	C	T	C25851640T	MYO18B	NM_032608.7(MYO18B):c.3885+61C>T	noncoding	Benign
22	25851887	C	T	C25851887T	MYO18B	NM_032608.7(MYO18B):c.3885+308C>T	noncoding	Benign
22	25868376	G	A	G25868376A	MYO18B	NM_032608.7(MYO18B):c.3942G>A:p.Gly1314=	coding	Benign
22	25874239	C	G	C25874239G	MYO18B	NM_032608.7(MYO18B):c.3952-47C>G	noncoding	Benign
22	25874665	A	G	A25874665G	MYO18B	NM_032608.7(MYO18B):c.4080+251A>G	noncoding	Benign
22	25876277	C	T	C25876277T	MYO18B	NM_032608.7(MYO18B):c.4169C>T:p.Ser1390Phe	coding	Benign
22	25876303	A	G	A25876303G	MYO18B	NM_032608.7(MYO18B):c.4195A>G:p.Ile1399Val	coding	Benign
22	25876493	A	T	A25876493T	MYO18B	NM_032608.7(MYO18B):c.4224+161A>T	noncoding	Benign
22	25877822	T	C	T25877822C	MYO18B	NM_032608.7(MYO18B):c.4225-137T>C	noncoding	Benign
22	25877867	A	C	A25877867C	MYO18B	NM_032608.7(MYO18B):c.4225-92A>C	noncoding	Benign
22	25877869	G	T	G25877869T	MYO18B	NM_032608.7(MYO18B):c.4225-90G>T	noncoding	Benign
22	25877883	G	C	G25877883C	MYO18B	NM_032608.7(MYO18B):c.4225-76G>C	noncoding	Benign
22	25877922	C	T	C25877922T	MYO18B	NM_032608.7(MYO18B):c.4225-37C>T	noncoding	Benign
22	25877926	G	C	G25877926C	MYO18B	NM_032608.7(MYO18B):c.4225-33G>C	noncoding	Benign
22	25890595	C	T	C25890595T	MYO18B	NM_032608.7(MYO18B):c.4315-161C>T	noncoding	Benign
22	25890771	T	A	T25890771A	MYO18B	NM_032608.7(MYO18B):c.4330T>A:p.Ser1444Thr	coding	Benign
22	25890824	G	A	G25890824A	MYO18B	NM_032608.7(MYO18B):c.4383G>A:p.Glu1461=	coding	Benign
22	25891219	G	A	G25891219A	MYO18B	NM_032608.7(MYO18B):c.4435-85G>A	noncoding	Benign
22	25891444	G	C	G25891444C	MYO18B	NM_032608.7(MYO18B):c.4543+32G>C	noncoding	Benign
22	25891515	T	C	T25891515C	MYO18B	NM_032608.7(MYO18B):c.4543+103T>C	noncoding	Benign
22	25895298	T	A	T25895298A	MYO18B	NM_032608.7(MYO18B):c.4668+18T>A	noncoding	Benign
22	25898157	T	A	T25898157A	MYO18B	NM_032608.7(MYO18B):c.4669-150T>A	noncoding	Benign
22	25898540	T	C	T25898540C	MYO18B	NM_032608.7(MYO18B):c.4823+79T>C	noncoding	Benign
22	25898546	A	G	A25898546G	MYO18B	NM_032608.7(MYO18B):c.4823+85A>G	noncoding	Benign
22	25902787	G	A	G25902787A	MYO18B	NM_032608.7(MYO18B):c.4947+51G>A	noncoding	Benign
22	25902907	T	C	T25902907C	MYO18B	NM_032608.7(MYO18B):c.4947+171T>C	noncoding	Benign
22	25902924	T	G	T25902924G	MYO18B	NM_032608.7(MYO18B):c.4947+188T>G	noncoding	Benign
22	25903379	G	C	G25903379C	MYO18B	NM_032608.7(MYO18B):c.4948-252G>C	noncoding	Benign
22	25903771	C	T	C25903771T	MYO18B	NM_032608.7(MYO18B):c.5088C>T:p.Ser1696=	coding	Benign
22	25908090	T	C	T25908090C	MYO18B	NM_032608.7(MYO18B):c.5149-232T>C	noncoding	Benign
22	25908396	G	A	G25908396A	MYO18B	NM_032608.7(MYO18B):c.5223G>A:p.Glu1741=	coding	Benign
22	25910783	T	C	T25910783C	MYO18B	NM_032608.7(MYO18B):c.5260-163T>C	noncoding	Benign
22	25911270	A	G	A25911270G	MYO18B	NM_032608.7(MYO18B):c.5364+220A>G	noncoding	Benign
22	25921188	A	G	A25921188G	MYO18B	NM_032608.7(MYO18B):c.5365-69A>G	noncoding	Benign
22	25921193	G	A	G25921193A	MYO18B	NM_032608.7(MYO18B):c.5365-64G>A	noncoding	Benign
22	25921489	A	G	A25921489G	MYO18B	NM_032608.7(MYO18B):c.5517+80A>G	noncoding	Benign
22	25946266	T	C	T25946266C	MYO18B	NM_032608.7(MYO18B):c.5631+16T>C	noncoding	Benign
22	25946445	C	T	C25946445T	MYO18B	NM_032608.7(MYO18B):c.5631+195C>T	noncoding	Benign
22	25946460	C	G	C25946460G	MYO18B	NM_032608.7(MYO18B):c.5631+210C>G	noncoding	Benign
22	25946563	C	T	C25946563T	MYO18B	NM_032608.7(MYO18B):c.5631+313C>T	noncoding	Benign
22	25947477	T	C	T25947477C	MYO18B	NM_032608.7(MYO18B):c.5632-235T>C	noncoding	Benign
22	25947497	C	G	C25947497G	MYO18B	NM_032608.7(MYO18B):c.5632-215C>G	noncoding	Benign
22	25947503	C	G	C25947503G	MYO18B	NM_032608.7(MYO18B):c.5632-209C>G	noncoding	Benign
22	25947627	A	G	A25947627G	MYO18B	NM_032608.7(MYO18B):c.5632-85A>G	noncoding	Benign
22	25947839	A	G	A25947839G	MYO18B	NM_032608.7(MYO18B):c.5748+11A>G	noncoding	Benign
22	25948058	C	T	C25948058T	MYO18B	NM_032608.7(MYO18B):c.5748+230C>T	noncoding	Benign
22	25950142	A	G	A25950142G	MYO18B	NM_032608.7(MYO18B):c.5749-225A>G	noncoding	Benign
22	25950474	A	G	A25950474G	MYO18B	NM_032608.7(MYO18B):c.5832+24A>G	noncoding	Benign
22	25992153	G	A	G25992153A	MYO18B	NM_032608.7(MYO18B):c.6157-210G>A	noncoding	Benign
22	25992178	T	A	T25992178A	MYO18B	NM_032608.7(MYO18B):c.6157-185T>A	noncoding	Benign
22	25992338	G	A	G25992338A	MYO18B	NM_032608.7(MYO18B):c.6157-25G>A	noncoding	Benign
22	25992346	G	C	G25992346C	MYO18B	NM_032608.7(MYO18B):c.6157-17G>C	noncoding	Benign
22	25992347	C	T	C25992347T	MYO18B	NM_032608.7(MYO18B):c.6157-16C>T	noncoding	Benign
22	25992371	C	T	C25992371T	MYO18B	NM_032608.7(MYO18B):c.6165C>T:p.Tyr2055=	coding	Benign
22	25992511	C	T	C25992511T	MYO18B	NM_032608.7(MYO18B):c.6287+18C>T	noncoding	Benign
22	25992582	A	G	A25992582G	MYO18B	NM_032608.7(MYO18B):c.6287+89A>G	noncoding	Benign
22	25992740	G	A	G25992740A	MYO18B	NM_032608.7(MYO18B):c.6287+247G>A	noncoding	Benign
22	25992813	G	A	G25992813A	MYO18B	NM_032608.7(MYO18B):c.6287+320G>A	noncoding	Benign
22	26003295	C	T	C26003295T	MYO18B	NM_032608.7(MYO18B):c.6318C>T:p.Ser2106=	coding	Benign
22	26003466	C	A	C26003466A	MYO18B	NM_032608.7(MYO18B):c.6332+157C>A	noncoding	Benign
22	26004559	A	T	A26004559T	MYO18B	NM_032608.7(MYO18B):c.6333-159A>T	noncoding	Benign
22	26005001	C	T	C26005001T	MYO18B	NM_032608.7(MYO18B):c.6470+146C>T	noncoding	Benign
22	26026321	C	T	C26026321T	MYO18B	NM_032608.7(MYO18B):c.6471-124C>T	noncoding	Benign
22	26026326	G	C	G26026326C	MYO18B	NM_032608.7(MYO18B):c.6471-119G>C	noncoding	Benign
22	26026488	T	C	T26026488C	MYO18B	NM_032608.7(MYO18B):c.6514T>C:p.Leu2172=	coding	Benign
22	26027014	A	G	A26027014G	MYO18B	NM_032608.7(MYO18B):c.7040A>G:p.Gln2347Arg	coding	Benign
22	26027027	C	T	C26027027T	MYO18B	NM_032608.7(MYO18B):c.7053C>T:p.Cys2351=	coding	Benign
22	26027158	G	C	G26027158C	MYO18B	NM_032608.7(MYO18B):c.7184G>C:p.Gly2395Ala	coding	Benign
22	26027511	G	A	G26027511A	MYO18B	NM_032608.7(MYO18B):c.7537G>A:p.Gly2513Ser	coding	Benign
22	26027618	A	G	A26027618G	MYO18B	NM_032608.7(MYO18B):c.7644A>G:p.Pro2548=	coding	Benign
22	26453700	T	C	T26453700C	HPS4	NM_022081.6(HPS4):c.1956-296A>G	noncoding	Benign
22	26457709	G	A	G26457709A	HPS4	NM_022081.6(HPS4):c.1955+150C>T	noncoding	Benign
22	26457841	C	T	C26457841T	HPS4	NM_022081.6(HPS4):c.1955+18G>A	noncoding	Benign
22	26458716	T	C	T26458716C	HPS4	NM_022081.6(HPS4):c.1714-139A>G	noncoding	Benign
22	26458750	G	A	G26458750A	HPS4	NM_022081.6(HPS4):c.1714-173C>T	noncoding	Benign
22	26458794	C	T	C26458794T	HPS4	NM_022081.6(HPS4):c.1714-217G>A	noncoding	Benign
22	26458822	A	G	A26458822G	HPS4	NM_022081.6(HPS4):c.1714-245T>C	noncoding	Benign
22	26464453	G	A	G26464453A	HPS4	NM_022081.6(HPS4):c.1177C>T:p.Pro393Ser	coding	Benign
22	26464498	G	A	G26464498A	HPS4	NM_022081.6(HPS4):c.1132C>T:p.Gln378Ter	coding	Pathogenic/Likely_pathogenic
22	26465239	A	G	A26465239G	HPS4	NM_022081.6(HPS4):c.803+216T>C	noncoding	Benign
22	26465755	T	C	T26465755C	HPS4	NM_022081.6(HPS4):c.707-204A>G	noncoding	Benign
22	26466075	G	A	G26466075A	HPS4	NM_022081.6(HPS4):c.706+151C>T	coding	Benign
22	26466225	C	T	C26466225T	HPS4	NM_022081.6(HPS4):c.706+1G>A	noncoding	Pathogenic/Likely_pathogenic
22	26468429	T	C	T26468429C	HPS4	NM_022081.6(HPS4):c.669+122A>G	noncoding	Benign
22	26468692	A	G	A26468692G	HPS4	NM_022081.6(HPS4):c.597-69T>C	noncoding	Benign
22	26468763	A	G	A26468763G	HPS4	NM_022081.6(HPS4):c.597-140T>C	noncoding	Benign
22	26472524	C	T	C26472524T	HPS4	NM_022081.6(HPS4):c.385-106G>A	noncoding	Benign
22	26472577	C	T	C26472577T	HPS4	NM_022081.6(HPS4):c.385-159G>A	noncoding	Benign
22	26472831	C	T	C26472831T	HPS4	NM_022081.6(HPS4):c.384+1G>A	noncoding	Pathogenic/Likely_pathogenic
22	26477148	G	A	G26477148A	HPS4	NM_022081.6(HPS4):c.133-12C>T	noncoding	Benign
22	26477431	C	A	C26477431A	HPS4	NM_022081.6(HPS4):c.133-295G>T	noncoding	Benign
22	26477449	G	A	G26477449A	HPS4	NM_022081.6(HPS4):c.133-313C>T	noncoding	Benign
22	26479018	A	C	A26479018C	HPS4	NM_022081.6(HPS4):c.132+247T>G	noncoding	Benign
22	26481497	G	A	G26481497A	HPS4	NM_022081.6(HPS4):c.41+225C>T	noncoding	Benign
22	26481573	C	T	C26481573T	HPS4	NM_022081.6(HPS4):c.41+149G>A	noncoding	Benign
22	26481748	G	A	G26481748A	HPS4	NM_022081.6(HPS4):c.15C>T:p.Thr5=	coding	Benign/Likely_benign
22	26601766	A	T	A26601766T	CRYBB1	NM_001887.4(CRYBB1):c.575+113T>A	noncoding	Benign
22	26608125	A	C	A26608125C	CRYBB1	NM_001887.4(CRYBB1):c.300-104T>G	noncoding	Benign
22	26608334	A	G	A26608334G	CRYBB1	NM_001887.4(CRYBB1):c.300-313T>C	noncoding	Benign
22	26608336	G	T	G26608336T	CRYBB1	NM_001887.4(CRYBB1):c.300-315C>A	noncoding	Benign
22	26616509	C	T	C26616509T	CRYBB1	NM_001887.4(CRYBB1):c.-19-171G>A	noncoding	Benign
22	26622801	T	C	T26622801C	CRYBA4	NM_001886.3(CRYBA4):c.39+166T>C	noncoding	Benign
22	26623078	G	A	G26623078A	CRYBA4	NM_001886.3(CRYBA4):c.40-156G>A	noncoding	Benign
22	26623190	G	A	G26623190A	CRYBA4	NM_001886.3(CRYBA4):c.40-44G>A	noncoding	Benign
22	26623410	C	T	C26623410T	CRYBA4	NM_001886.3(CRYBA4):c.158+58C>T	noncoding	Benign
22	26623523	C	T	C26623523T	CRYBA4	NM_001886.3(CRYBA4):c.158+171C>T	noncoding	Benign
22	26623534	A	T	A26623534T	CRYBA4	NM_001886.3(CRYBA4):c.158+182A>T	noncoding	Benign
22	26625394	C	T	C26625394T	CRYBA4	NM_001886.3(CRYBA4):c.159-87C>T	noncoding	Benign
22	26625445	C	T	C26625445T	CRYBA4	NM_001886.3(CRYBA4):c.159-36C>T	noncoding	Benign
22	27750782	A	G	A27750782G	MN1	NM_002430.3(MN1):c.*133T>C	noncoding	Benign
22	27796800	C	T	C27796800T	MN1	NM_002430.3(MN1):c.3744G>A:p.Trp1248Ter	coding	Pathogenic/Likely_pathogenic
22	27796989	G	T	G27796989T	MN1	NM_002430.3(MN1):c.3555C>A:p.Cys1185Ter	coding	Pathogenic
22	27797109	C	T	C27797109T	MN1	NM_002430.3(MN1):c.3435G>A:p.Pro1145=	coding	Benign
22	27798080	G	A	G27798080A	MN1	NM_002430.3(MN1):c.2464C>T:p.Gln822Ter	coding	Pathogenic
22	28688178	T	C	T28688178C	CHEK2	NM_007194.4(CHEK2):c.1543-192A>G	noncoding	Benign
22	28689137	G	A	G28689137A	CHEK2	NM_007194.4(CHEK2):c.1540C>T:p.Gln514Ter	coding	Pathogenic
22	28689235	A	G	A28689235G	CHEK2	NM_007194.4(CHEK2):c.1462-20T>C	noncoding	Benign/Likely_benign
22	28694038	C	T	C28694038T	CHEK2	NM_007194.4(CHEK2):c.1455G>A:p.Trp485Ter	coding	Pathogenic
22	28694061	C	A	C28694061A	CHEK2	NM_007194.4(CHEK2):c.1432G>T:p.Glu478Ter	coding	Pathogenic
22	28694093	A	T	A28694093T	CHEK2	NM_007194.4(CHEK2):c.1400T>A:p.Leu467Ter	coding	Pathogenic
22	28694375	G	A	G28694375A	CHEK2	NM_007194.4(CHEK2):c.1376-258C>T	noncoding	Benign
22	28694493	G	C	G28694493C	CHEK2	NM_007194.4(CHEK2):c.1376-376C>G	noncoding	Benign
22	28694780	A	C	A28694780C	CHEK2	NM_007194.4(CHEK2):c.1375+347T>G	noncoding	Benign
22	28694902	G	A	G28694902A	CHEK2	NM_007194.4(CHEK2):c.1375+225C>T	noncoding	Benign
22	28695049	G	C	G28695049C	CHEK2	NM_007194.4(CHEK2):c.1375+78C>G	noncoding	Benign
22	28695135	G	C	G28695135C	CHEK2	NM_007194.4(CHEK2):c.1367C>G:p.Ser456Ter	coding	Pathogenic
22	28695167	G	T	G28695167T	CHEK2	NM_007194.4(CHEK2):c.1335C>A:p.Tyr445Ter	coding	Pathogenic
22	28695230	A	C	A28695230C	CHEK2	NM_007194.4(CHEK2):c.1272T>G:p.Tyr424Ter	coding	Pathogenic
22	28695230	A	T	A28695230T	CHEK2	NM_007194.4(CHEK2):c.1272T>A:p.Tyr424Ter	coding	Pathogenic
22	28695242	G	T	G28695242T	CHEK2	NM_007194.4(CHEK2):c.1260C>A:p.Cys420Ter	coding	Pathogenic
22	28695693	A	G	A28695693G	CHEK2	NM_007194.4(CHEK2):c.1259+17T>C	noncoding	Benign/Likely_benign
22	28695799	G	T	G28695799T	CHEK2	NM_007194.4(CHEK2):c.1170C>A:p.Tyr390Ter	coding	Pathogenic/Likely_pathogenic
22	28695814	A	T	A28695814T	CHEK2	NM_007194.4(CHEK2):c.1155T>A:p.Cys385Ter	coding	Pathogenic
22	28695818	A	T	A28695818T	CHEK2	NM_007194.4(CHEK2):c.1151T>A:p.Leu384Ter	coding	Pathogenic
22	28696193	C	T	C28696193T	CHEK2	NM_007194.4(CHEK2):c.1096-320G>A	noncoding	Benign
22	28696732	C	T	C28696732T	CHEK2	NM_007194.4(CHEK2):c.1095+169G>A	noncoding	Benign
22	28696882	C	T	C28696882T	CHEK2	NM_007194.4(CHEK2):c.1095+19G>A	noncoding	Benign/Likely_benign
22	28696931	C	T	C28696931T	CHEK2	NM_007194.4(CHEK2):c.1065G>A:p.Leu355=	coding	Benign/Likely_benign
22	28696935	A	T	A28696935T	CHEK2	NM_007194.4(CHEK2):c.1061T>A:p.Leu354Ter	coding	Pathogenic
22	28697251	A	G	A28697251G	CHEK2	NM_007194.4(CHEK2):c.1009-264T>C	noncoding	Benign
22	28699848	A	T	A28699848T	CHEK2	NM_007194.4(CHEK2):c.998T>A:p.Leu333Ter	coding	Pathogenic
22	28699927	C	A	C28699927A	CHEK2	NM_007194.4(CHEK2):c.919G>T:p.Gly307Ter	coding	Pathogenic
22	28703503	A	G	A28703503G	CHEK2	NM_007194.4(CHEK2):c.908+2T>C	noncoding	Pathogenic/Likely_pathogenic
22	28703530	C	A	C28703530A	CHEK2	NM_007194.4(CHEK2):c.883G>T:p.Glu295Ter	coding	Pathogenic
22	28703766	T	C	T28703766C	CHEK2	NM_007194.4(CHEK2):c.847-200A>G	noncoding	Benign
22	28710022	A	T	A28710022T	CHEK2	NM_007194.4(CHEK2):c.830T>A:p.Leu277Ter	coding	Pathogenic
22	28710070	C	T	C28710070T	CHEK2	NM_007194.4(CHEK2):c.793-11G>A	noncoding	Benign/Likely_benign
22	28710076	A	G	A28710076G	CHEK2	NM_007194.4(CHEK2):c.793-17T>C	noncoding	Benign/Likely_benign
22	28710186	A	G	A28710186G	CHEK2	NM_007194.4(CHEK2):c.793-127T>C	noncoding	Benign
22	28710361	A	T	A28710361T	CHEK2	NM_007194.4(CHEK2):c.793-302T>A	noncoding	Benign
22	28711584	G	C	G28711584C	CHEK2	NM_007194.4(CHEK2):c.792+325C>G	noncoding	Benign
22	28711914	C	A	C28711914A	CHEK2	NM_007194.4(CHEK2):c.787G>T:p.Glu263Ter	coding	Pathogenic
22	28711971	T	A	T28711971A	CHEK2	NM_007194.4(CHEK2):c.730A>T:p.Lys244Ter	coding	Pathogenic
22	28712019	T	C	T28712019C	CHEK2	NM_007194.4(CHEK2):c.684-2A>G	noncoding	Pathogenic/Likely_pathogenic
22	28712124	A	C	A28712124C	CHEK2	NM_007194.4(CHEK2):c.684-107T>G	noncoding	Benign
22	28712241	A	G	A28712241G	CHEK2	NM_007194.4(CHEK2):c.684-224T>C	noncoding	Benign
22	28712449	C	T	C28712449T	CHEK2	NM_007194.4(CHEK2):c.684-432G>A	noncoding	Benign
22	28719353	T	C	T28719353C	CHEK2	NM_007194.4(CHEK2):c.683+42A>G	noncoding	Benign
22	28719410	G	C	G28719410C	CHEK2	NM_007194.4(CHEK2):c.668C>G:p.Ser223Ter	coding	Pathogenic
22	28719453	G	A	G28719453A	CHEK2	NM_007194.4(CHEK2):c.625C>T:p.Gln209Ter	coding	Pathogenic/Likely_pathogenic
22	28724927	T	A	T28724927A	CHEK2	NM_007194.4(CHEK2):c.592+50A>T	noncoding	Benign/Likely_benign
22	28724976	C	T	C28724976T	CHEK2	NM_007194.4(CHEK2):c.592+1G>A	noncoding	Pathogenic/Likely_pathogenic
22	28725021	A	T	A28725021T	CHEK2	NM_007194.4(CHEK2):c.548T>A:p.Leu183Ter	coding	Pathogenic
22	28725095	T	C	T28725095C	CHEK2	NM_007194.4(CHEK2):c.474A>G:p.Ala158=	coding	Benign/Likely_benign
22	28725095	T	G	T28725095G	CHEK2	NM_007194.4(CHEK2):c.474A>C:p.Ala158=	coding	Benign/Likely_benign
22	28725284	T	A	T28725284A	CHEK2	NM_007194.4(CHEK2):c.403A>T:p.Lys135Ter	coding	Pathogenic
22	28725318	A	C	A28725318C	CHEK2	NM_007194.4(CHEK2):c.369T>G:p.Tyr123Ter	coding	Pathogenic
22	28725324	A	T	A28725324T	CHEK2	NM_007194.4(CHEK2):c.363T>A:p.Cys121Ter	coding	Pathogenic
22	28725345	C	T	C28725345T	CHEK2	NM_007194.4(CHEK2):c.342G>A:p.Trp114Ter	coding	Pathogenic/Likely_pathogenic
22	28734400	T	G	T28734400G	CHEK2	NM_007194.4(CHEK2):c.319+3A>C	noncoding	Pathogenic
22	28734402	C	T	C28734402T	CHEK2	NM_007194.4(CHEK2):c.319+1G>A	noncoding	Pathogenic/Likely_pathogenic
22	28734487	C	A	C28734487A	CHEK2	NM_007194.4(CHEK2):c.235G>T:p.Glu79Ter	coding	Pathogenic
22	28734616	G	A	G28734616A	CHEK2	NM_007194.4(CHEK2):c.106C>T:p.Gln36Ter	coding	Pathogenic/Likely_pathogenic
22	28741758	A	T	A28741758T	CHEK2	NM_007194.4(CHEK2):c.-7+11T>A	noncoding	Benign
22	28741882	C	T	C28741882T	CHEK2	NC_000022.10:g.29137870C>T	noncoding	Benign
22	28741956	G	C	G28741956C	CHEK2	Single_allele	noncoding	Benign
22	28741962	G	A	G28741962A	HSCB	NM_007194.2(CHEK2):c.-200C>T	noncoding	Pathogenic
22	29073142	A	C	A29073142C	KREMEN1	NM_001039570.3(KREMEN1):c.12A>C:p.Pro4_Ala5=	coding	Benign
22	29073239	C	T	C29073239T	KREMEN1	NM_001039570.3(KREMEN1):c.97+12C>T	noncoding	Benign
22	29121475	G	T	G29121475T	KREMEN1	NM_001039570.3(KREMEN1):c.471G>T:p.Arg157Ser	coding	Benign
22	29137511	G	A	G29137511A	KREMEN1	NM_001039570.3(KREMEN1):c.801G>A:p.Ala267=	coding	Benign
22	29137584	C	G	C29137584G	KREMEN1	NM_001039570.3(KREMEN1):c.874C>G:p.Leu292Val	coding	Benign
22	29268434	G	A	G29268434A	EWSR1	NM_005243.4(EWSR1):c.13+85G>A	noncoding	Benign
22	29272015	C	T	C29272015T	EWSR1	NM_005243.4(EWSR1):c.14-201C>T	noncoding	Benign
22	29273659	G	C	G29273659C	EWSR1	NM_005243.4(EWSR1):c.103-82G>C	noncoding	Benign
22	29273704	T	C	T29273704C	EWSR1	NM_005243.4(EWSR1):c.103-37T>C	noncoding	Benign
22	29273723	C	G	C29273723G	EWSR1	NM_005243.4(EWSR1):c.103-18C>G	noncoding	Benign
22	29286712	A	T	A29286712T	EWSR1	NM_005243.4(EWSR1):c.582-211A>T	noncoding	Benign
22	29292643	T	G	T29292643G	EWSR1	NM_005243.4(EWSR1):c.1164+37T>G	noncoding	Benign
22	29295930	G	A	G29295930A	EWSR1	NM_005243.4(EWSR1):c.1165-309G>A	noncoding	Benign
22	29296498	G	T	G29296498T	EWSR1	NM_005243.4(EWSR1):c.1294+130G>T	noncoding	Benign
22	29296507	G	T	G29296507T	EWSR1	NM_005243.4(EWSR1):c.1294+139G>T	noncoding	Benign
22	29298000	A	G	A29298000G	EWSR1	NM_005243.4(EWSR1):c.1417+51A>G	noncoding	Benign
22	29298493	T	C	T29298493C	EWSR1	NM_005243.4(EWSR1):c.1418-240T>C	noncoding	Benign
22	29299939	T	G	T29299939G	EWSR1	NM_005243.4(EWSR1):c.1931+88T>G	noncoding	Benign
22	29328675	G	A	G29328675A	AP1B1	NM_001127.4(AP1B1):c.*146C>T	noncoding	Benign
22	29328803	T	C	T29328803C	AP1B1	NM_001127.4(AP1B1):c.*18A>G	noncoding	Benign
22	29330467	G	A	G29330467A	AP1B1	NM_001127.4(AP1B1):c.2677C>T:p.Gln893Ter	coding	Pathogenic
22	29331877	C	T	C29331877T	AP1B1	NM_001127.4(AP1B1):c.2349G>A:p.Ala783=	coding	Benign
22	29334636	A	G	A29334636G	AP1B1	NM_001127.4(AP1B1):c.2164-226T>C	noncoding	Benign
22	29338808	G	A	G29338808A	AP1B1	NM_001127.4(AP1B1):c.2163+182C>T	noncoding	Benign
22	29338963	C	T	C29338963T	AP1B1	NM_001127.4(AP1B1):c.2163+27G>A	noncoding	Benign
22	29339321	C	T	C29339321T	AP1B1	NM_001127.4(AP1B1):c.2020-188G>A	noncoding	Benign
22	29339658	C	T	C29339658T	AP1B1	NM_001127.4(AP1B1):c.2019+96G>A	noncoding	Benign
22	29340671	A	G	A29340671G	AP1B1	NM_001127.4(AP1B1):c.1983T>C:p.Gly661=	coding	Benign
22	29340802	G	A	G29340802A	AP1B1	NM_001127.4(AP1B1):c.1852C>T:p.Gln618Ter	coding	Pathogenic
22	29341799	G	C	G29341799C	AP1B1	NM_001127.4(AP1B1):c.1537-39C>G	noncoding	Benign
22	29341834	T	C	T29341834C	AP1B1	NM_001127.4(AP1B1):c.1537-74A>G	noncoding	Benign
22	29342557	C	T	C29342557T	AP1B1	NM_001127.4(AP1B1):c.1438-174G>A	noncoding	Benign
22	29349043	T	G	T29349043G	AP1B1	NM_001127.4(AP1B1):c.1437+175A>C	noncoding	Benign
22	29349088	C	T	C29349088T	AP1B1	NM_001127.4(AP1B1):c.1437+130G>A	noncoding	Benign
22	29350043	G	T	G29350043T	AP1B1	NM_001127.4(AP1B1):c.1263C>A:p.Tyr421Ter	coding	Pathogenic
22	29350264	T	C	T29350264C	AP1B1	NM_001127.4(AP1B1):c.1156-114A>G	noncoding	Benign
22	29351423	A	C	A29351423C	AP1B1	NM_001127.4(AP1B1):c.1060-157T>G	noncoding	Benign
22	29356474	A	G	A29356474G	AP1B1	NM_001127.4(AP1B1):c.668T>C:p.Leu223Pro	coding	Pathogenic
22	29356796	A	G	A29356796G	AP1B1	NM_001127.4(AP1B1):c.526-180T>C	noncoding	Benign
22	29358929	G	A	G29358929A	AP1B1	NM_001127.4(AP1B1):c.322C>T:p.Arg108Trp	coding	Pathogenic
22	29359899	T	C	T29359899C	AP1B1	NM_001127.4(AP1B1):c.204A>G:p.Leu68=	coding	Benign
22	29362828	A	G	A29362828G	AP1B1	NM_001127.4(AP1B1):c.143+173T>C	noncoding	Benign
22	29362974	G	T	G29362974T	AP1B1	NM_001127.4(AP1B1):c.143+27C>A	noncoding	Benign
22	29363199	C	G	C29363199G	AP1B1	NM_001127.4(AP1B1):c.38-93G>C	noncoding	Benign
22	29367462	C	T	C29367462T	AP1B1	NM_001127.4(AP1B1):c.-27-192G>A	noncoding	Benign
22	29480343	G	A	G29480343A	NEFH	NM_021076.4(NEFH):c.81G>A:p.Ala27=	coding	Benign
22	29480385	T	C	T29480385C	NEFH	NM_021076.4(NEFH):c.123T>C:p.Ala41=	coding	Benign
22	29480415	A	G	A29480415G	NEFH	NM_021076.4(NEFH):c.153A>G:p.Thr51=	coding	Benign
22	29480559	G	A	G29480559A	NEFH	NM_021076.4(NEFH):c.297G>A:p.Glu99=	coding	Benign
22	29480586	C	T	C29480586T	NEFH	NM_021076.4(NEFH):c.324C>T:p.Phe108=	coding	Benign
22	29480994	G	A	G29480994A	NEFH	NM_021076.4(NEFH):c.732G>A:p.Gln244=	coding	Benign
22	29481007	G	A	G29481007A	NEFH	NM_021076.4(NEFH):c.745G>A:p.Gly249Ser	coding	Benign/Likely_benign
22	29481015	G	A	G29481015A	NEFH	NM_021076.4(NEFH):c.753G>A:p.Ala251=	coding	Benign
22	29481033	C	T	C29481033T	NEFH	NM_021076.4(NEFH):c.771C>T:p.Ala257=	coding	Benign
22	29481161	G	A	G29481161A	NEFH	NM_021076.4(NEFH):c.883+16G>A	noncoding	Benign
22	29481202	T	C	T29481202C	NEFH	NM_021076.4(NEFH):c.883+57T>C	noncoding	Benign
22	29481378	G	A	G29481378A	NEFH	NM_021076.4(NEFH):c.883+233G>A	noncoding	Benign
22	29481428	C	T	C29481428T	NEFH	NM_021076.4(NEFH):c.883+283C>T	noncoding	Benign
22	29483545	C	A	C29483545A	NEFH	NM_021076.4(NEFH):c.1054C>A:p.Arg352Ser	coding	Benign/Likely_benign
22	29483756	C	G	C29483756G	NEFH	NM_021076.4(NEFH):c.1083+182C>G	noncoding	Benign
22	29485479	G	A	G29485479A	NEFH	NM_021076.4(NEFH):c.1084-244G>A	noncoding	Benign
22	29485548	C	T	C29485548T	NEFH	NM_021076.4(NEFH):c.1084-175C>T	noncoding	Benign
22	29485895	G	A	G29485895A	NEFH	NM_021076.4(NEFH):c.1208+48G>A	noncoding	Benign
22	29485901	C	T	C29485901T	NEFH	NM_021076.4(NEFH):c.1208+54C>T	noncoding	Benign
22	29488578	C	T	C29488578T	NEFH	NM_021076.4(NEFH):c.1209-271C>T	noncoding	Benign
22	29488833	G	A	G29488833A	NEFH	NM_021076.4(NEFH):c.1209-16G>A	noncoding	Benign
22	29489209	G	C	G29489209C	NEFH	NM_021076.4(NEFH):c.1569G>C:p.Glu523Asp	coding	Benign
22	29489379	C	T	C29489379T	NEFH	NM_021076.4(NEFH):c.1739C>T:p.Ser580Phe	coding	Benign/Likely_benign
22	29489383	C	T	C29489383T	NEFH	NM_021076.4(NEFH):c.1743C>T:p.Pro581=	coding	Benign
22	29489545	G	A	G29489545A	NEFH	NM_021076.4(NEFH):c.1905G>A:p.Pro635=	coding	Benign
22	29489565	C	T	C29489565T	NEFH	NM_021076.4(NEFH):c.1925C>T:p.Thr642Met	coding	Benign
22	29489655	C	A	C29489655A	NEFH	NM_021076.4(NEFH):c.2015C>A:p.Ala672Glu	coding	Benign
22	29489662	A	C	A29489662C	NEFH	NM_021076.4(NEFH):c.2022A>C:p.Ala674=	coding	Benign/Likely_benign
22	29489781	A	C	A29489781C	NEFH	NM_021076.4(NEFH):c.2141A>C:p.Glu714Ala	coding	Benign/Likely_benign
22	29490001	C	G	C29490001G	NEFH	NM_021076.4(NEFH):c.2361C>G:p.Ser787Arg	coding	Benign
22	29490371	C	T	C29490371T	NEFH	NM_021076.4(NEFH):c.2731C>T:p.Pro911Ser	coding	Benign/Likely_benign
22	29490393	A	G	A29490393G	NEFH	NM_021076.4(NEFH):c.2753A>G:p.Glu918Gly	coding	Benign
22	29490496	G	A	G29490496A	NEFH	NM_021076.4(NEFH):c.2856G>A:p.Pro952=	coding	Benign
22	29490904	G	T	G29490904T	NEFH	NM_021076.4(NEFH):c.*201G>T	noncoding	Benign
22	29604113	G	T	G29604113T	NF2	NM_000268.4(NF2):c.114+1G>T	coding	Pathogenic
22	29604132	G	T	G29604132T	NF2	NM_000268.4(NF2):c.114+20G>T	noncoding	Benign/Likely_benign
22	29636878	T	C	T29636878C	NF2	NM_000268.4(NF2):c.240+2T>C	noncoding	Pathogenic
22	29637047	T	A	T29637047A	NF2	NM_000268.4(NF2):c.240+171T>A	noncoding	Benign
22	29639032	G	A	G29639032A	NF2	NM_000268.4(NF2):c.241-58G>A	noncoding	Benign
22	29639088	A	G	A29639088G	NF2	NM_000268.4(NF2):c.241-2A>G	noncoding	Pathogenic
22	29639213	G	A	G29639213A	NF2	NM_000268.4(NF2):c.363+1G>A	coding	Pathogenic
22	29639213	G	T	G29639213T	NF2	NM_000268.4(NF2):c.363+1G>T	coding	Pathogenic
22	29642277	C	T	C29642277T	NF2	NM_000268.4(NF2):c.439C>T:p.Gln147Ter	coding	Pathogenic
22	29642287	T	C	T29642287C	NF2	NM_000268.4(NF2):c.447+2T>C	noncoding	Pathogenic
22	29642291	C	T	C29642291T	NF2	NM_000268.4(NF2):c.447+6C>T	noncoding	Benign
22	29654640	C	T	C29654640T	NF2	NM_000268.4(NF2):c.448-17C>T	noncoding	Benign/Likely_benign
22	29654655	A	G	A29654655G	NF2	NM_000268.4(NF2):c.448-2A>G	noncoding	Pathogenic
22	29654656	G	A	G29654656A	NF2	NM_000268.4(NF2):c.448-1G>A	noncoding	Pathogenic
22	29654690	G	T	G29654690T	NF2	NM_000268.4(NF2):c.481G>T:p.Gly161Ter	coding	Pathogenic
22	29654984	A	C	A29654984C	NF2	NM_000268.4(NF2):c.516+259A>C	noncoding	Benign
22	29655444	C	T	C29655444T	NF2	NM_000268.4(NF2):c.517-150C>T	noncoding	Benign
22	29655630	G	T	G29655630T	NF2	NM_000268.4(NF2):c.553G>T:p.Glu185Ter	coding	Pathogenic
22	29655653	C	A	C29655653A	NF2	NM_000268.4(NF2):c.576C>A:p.Tyr192Ter	coding	Pathogenic
22	29655677	G	A	G29655677A	NF2	NM_000268.4(NF2):c.599+1G>A	coding	Pathogenic/Likely_pathogenic
22	29655677	G	T	G29655677T	NF2	NM_000268.4(NF2):c.599+1G>T	coding	Pathogenic
22	29655678	T	G	T29655678G	NF2	NM_000268.4(NF2):c.599+2T>G	noncoding	Pathogenic
22	29657950	C	A	C29657950A	NF2	NM_000268.4(NF2):c.600-239C>A	noncoding	Benign
22	29657974	A	G	A29657974G	NF2	NM_000268.4(NF2):c.600-215A>G	noncoding	Benign
22	29658199	G	T	G29658199T	NF2	NM_000268.4(NF2):c.610G>T:p.Glu204Ter	coding	Pathogenic
22	29658223	C	T	C29658223T	NF2	NM_000268.4(NF2):c.634C>T:p.Gln212Ter	coding	Pathogenic
22	29658252	C	G	C29658252G	NF2	NM_000268.4(NF2):c.663C>G:p.Tyr221Ter	coding	Pathogenic
22	29661274	A	T	A29661274T	NF2	NM_000268.4(NF2):c.745A>T:p.Arg249Ter	coding	Pathogenic
22	29661303	G	A	G29661303A	NF2	NM_000268.4(NF2):c.774G>A:p.Trp258Ter	coding	Pathogenic
22	29664973	C	G	C29664973G	NF2	NM_000268.4(NF2):c.811-17C>G	noncoding	Benign
22	29668339	C	T	C29668339T	NF2	NM_000268.4(NF2):c.892C>T:p.Gln298Ter	coding	Pathogenic
22	29668359	T	C	T29668359C	NF2	NM_000268.4(NF2):c.912T>C:p.His304=	coding	Benign/Likely_benign
22	29668381	A	T	A29668381T	NF2	NM_000268.4(NF2):c.934A>T:p.Lys312Ter	coding	Pathogenic
22	29668426	G	T	G29668426T	NF2	NM_000268.4(NF2):c.979G>T:p.Glu327Ter	coding	Pathogenic
22	29668448	T	G	T29668448G	NF2	NM_000268.4(NF2):c.999+2T>G	noncoding	Pathogenic
22	29668461	G	A	G29668461A	NF2	NM_000268.4(NF2):c.999+15G>A	noncoding	Benign/Likely_benign
22	29671949	G	A	G29671949A	NF2	NM_000268.4(NF2):c.1122+1G>A	coding	Pathogenic
22	29672077	A	T	A29672077T	NF2	NM_000268.4(NF2):c.1122+129A>T	noncoding	Benign
22	29673267	A	G	A29673267G	NF2	NM_000268.4(NF2):c.1123-2A>G	noncoding	Pathogenic
22	29673339	T	C	T29673339C	NF2	NM_000268.4(NF2):c.1193T>C:p.Leu398Pro	coding	Pathogenic/Likely_pathogenic
22	29673344	C	T	C29673344T	NF2	NM_000268.4(NF2):c.1198C>T:p.Gln400Ter	coding	Pathogenic
22	29673407	G	T	G29673407T	NF2	NM_000268.4(NF2):c.1261G>T:p.Glu421Ter	coding	Pathogenic
22	29673410	G	T	G29673410T	NF2	NM_000268.4(NF2):c.1264G>T:p.Glu422Ter	coding	Pathogenic
22	29673428	C	T	C29673428T	NF2	NM_000268.4(NF2):c.1282C>T:p.Gln428Ter	coding	Pathogenic
22	29673436	G	A	G29673436A	NF2	NM_000268.4(NF2):c.1290G>A:p.Val430=	coding	Benign/Likely_benign
22	29673446	G	T	G29673446T	NF2	NM_000268.4(NF2):c.1300G>T:p.Glu434Ter	coding	Pathogenic
22	29673734	A	G	A29673734G	NF2	NM_000268.4(NF2):c.1340+248A>G	noncoding	Benign
22	29674835	G	A	G29674835A	NF2	NM_000268.4(NF2):c.1341-1G>A	noncoding	Pathogenic
22	29674887	G	A	G29674887A	NF2	NM_000268.4(NF2):c.1392G>A:p.Ala464=	coding	Benign/Likely_benign
22	29678185	C	T	C29678185T	NF2	NM_000268.4(NF2):c.1447-11C>T	noncoding	Benign
22	29678195	G	A	G29678195A	NF2	NM_000268.4(NF2):c.1447-1G>A	noncoding	Pathogenic
22	29678496	G	A	G29678496A	NF2	NM_000268.4(NF2):c.1574+173G>A	noncoding	Benign
22	29681438	G	C	G29681438C	NF2	NM_000268.4(NF2):c.1575-1G>C	noncoding	Pathogenic
22	29681470	C	T	C29681470T	NF2	NM_000268.4(NF2):c.1606C>T:p.Gln536Ter	coding	Pathogenic
22	29681476	C	T	C29681476T	NF2	NM_000268.4(NF2):c.1612C>T:p.Gln538Ter	coding	Pathogenic
22	29681485	G	T	G29681485T	NF2	NM_000268.4(NF2):c.1621G>T:p.Glu541Ter	coding	Pathogenic
22	29681736	T	C	T29681736C	NF2	NM_000268.4(NF2):c.1737+135T>C	noncoding	Benign
22	29694469	C	T	C29694469T	NF2	NM_000268.4(NF2):c.1738-283C>T	noncoding	Benign
22	29694763	G	A	G29694763A	NF2	NM_000268.4(NF2):c.1749G>A:p.Gln583=	coding	Benign/Likely_benign
22	29696420	T	C	T29696420C	NF2	NM_000268.4(NF2):c.*1618T>C	noncoding	Benign/Likely_benign
22	29697171	T	C	T29697171C	NF2	NM_000268.4(NF2):c.*2369T>C	noncoding	Benign/Likely_benign
22	30027471	C	T	C30027471T	MTMR3	NM_021090.4(MTMR3):c.*1670C>T	noncoding	Benign
22	30292670	C	T	C30292670T	TBC1D10A	NM_031937.3(TBC1D10A):c.1232G>A:p.Arg411His	coding	Benign
22	30557308	C	T	C30557308T	GAL3ST1	NM_001318104.2(GAL3ST1):c.85G>A:p.Val29Met	coding	Benign
22	30607082	C	T	C30607082T	TCN2	NM_000355.3(TCN2):c.-250C>T	noncoding	Benign/Likely_benign
22	30607574	A	G	A30607574G	TCN2	NM_000355.4(TCN2):c.64+179A>G	noncoding	Benign
22	30610715	T	G	T30610715G	TCN2	NM_000355.4(TCN2):c.65-156T>G	noncoding	Benign
22	30610854	C	T	C30610854T	TCN2	NM_000355.4(TCN2):c.65-17C>T	noncoding	Benign
22	30610896	G	A	G30610896A	TCN2	NM_000355.4(TCN2):c.90G>A:p.Leu30=	coding	Benign
22	30612758	A	G	A30612758G	TCN2	NM_000355.4(TCN2):c.258-115A>G	noncoding	Benign
22	30613059	C	T	C30613059T	TCN2	NM_000355.4(TCN2):c.427+17C>T	noncoding	Benign/Likely_benign
22	30613060	G	A	G30613060A	TCN2	NM_000355.4(TCN2):c.427+18G>A	noncoding	Benign
22	30613131	T	A	T30613131A	TCN2	NM_000355.4(TCN2):c.427+89T>A	noncoding	Benign
22	30613191	G	A	G30613191A	TCN2	NM_000355.4(TCN2):c.427+149G>A	noncoding	Benign
22	30614253	G	A	G30614253A	TCN2	NM_000355.4(TCN2):c.428-96G>A	noncoding	Benign
22	30614255	G	C	G30614255C	TCN2	NM_000355.4(TCN2):c.428-94G>C	noncoding	Benign
22	30614347	A	G	A30614347G	TCN2	NM_000355.4(TCN2):c.428-2A>G	noncoding	Pathogenic/Likely_pathogenic
22	30614569	C	G	C30614569G	TCN2	NM_000355.4(TCN2):c.580+68C>G	noncoding	Benign
22	30614662	T	C	T30614662C	TCN2	NM_000355.4(TCN2):c.580+161T>C	noncoding	Benign
22	30615010	C	T	C30615010T	TCN2	NM_000355.4(TCN2):c.581-291C>T	noncoding	Benign
22	30615082	G	T	G30615082T	TCN2	NM_000355.4(TCN2):c.581-219G>T	noncoding	Benign
22	30615570	T	C	T30615570C	TCN2	NM_000355.4(TCN2):c.754-31T>C	noncoding	Benign
22	30615895	A	T	A30615895T	TCN2	NM_000355.4(TCN2):c.940+108A>T	noncoding	Benign
22	30615919	C	T	C30615919T	TCN2	NM_000355.4(TCN2):c.940+132C>T	noncoding	Benign
22	30615936	T	C	T30615936C	TCN2	NM_000355.4(TCN2):c.940+149T>C	noncoding	Benign
22	30617309	G	A	G30617309A	TCN2	NM_000355.4(TCN2):c.941-21G>A	noncoding	Benign
22	30617392	C	T	C30617392T	TCN2	NM_000355.4(TCN2):c.1003C>T:p.Gln335Ter	coding	Pathogenic
22	30617496	G	A	G30617496A	TCN2	NM_000355.4(TCN2):c.1106+1G>A	coding	Pathogenic
22	30617562	G	A	G30617562A	TCN2	NM_000355.4(TCN2):c.1106+67G>A	noncoding	Benign
22	30622659	C	T	C30622659T	TCN2	NM_000355.4(TCN2):c.1107-309C>T	noncoding	Benign
22	30622790	G	A	G30622790A	TCN2	NM_000355.4(TCN2):c.1107-178G>A	noncoding	Benign
22	30622830	C	T	C30622830T	TCN2	NM_000355.4(TCN2):c.1107-138C>T	noncoding	Benign
22	30622897	G	C	G30622897C	TCN2	NM_000355.4(TCN2):c.1107-71G>C	noncoding	Benign
22	30623248	A	C	A30623248C	TCN2	NM_000355.4(TCN2):c.1222+165A>C	noncoding	Benign
22	30626285	G	A	G30626285A	TCN2	NM_000355.4(TCN2):c.1223-175G>A	noncoding	Benign
22	30626292	T	C	T30626292C	TCN2	NM_000355.4(TCN2):c.1223-168T>C	noncoding	Benign
22	30626314	G	A	G30626314A	TCN2	NM_000355.4(TCN2):c.1223-146G>A	noncoding	Benign
22	30870559	T	C	T30870559C	OSBP2	NM_030758.4(OSBP2):c.984T>C:p.Ala328=	coding	Benign
22	30906246	T	C	T30906246C	OSBP2	NM_030758.4(OSBP2):c.2658T>C:p.Asp886=	coding	Benign
22	30927064	C	A	C30927064A	MORC2	NM_001303256.3(MORC2):c.3031-193G>T	noncoding	Benign
22	30927797	G	A	G30927797A	MORC2	NM_001303256.3(MORC2):c.3030+222C>T	noncoding	Benign
22	30927913	G	C	G30927913C	MORC2	NM_001303256.3(MORC2):c.3030+106C>G	noncoding	Benign
22	30932339	G	A	G30932339A	MORC2	NM_001303256.3(MORC2):c.2841+20C>T	noncoding	Benign/Likely_benign
22	30933069	G	C	G30933069C	MORC2	NM_001303256.3(MORC2):c.2381-39C>G	noncoding	Benign
22	30933654	T	C	T30933654C	MORC2	NM_001303256.3(MORC2):c.2326-134A>G	noncoding	Benign
22	30933847	T	C	T30933847C	MORC2	NM_001303256.3(MORC2):c.2325+213A>G	noncoding	Benign
22	30933895	A	G	A30933895G	MORC2	NM_001303256.3(MORC2):c.2325+165T>C	noncoding	Benign
22	30933967	A	G	A30933967G	MORC2	NM_001303256.3(MORC2):c.2325+93T>C	noncoding	Benign
22	30934766	G	A	G30934766A	MORC2	NM_001303256.3(MORC2):c.2193+15C>T	noncoding	Benign/Likely_benign
22	30934784	G	A	G30934784A	MORC2	NM_001303256.3(MORC2):c.2190C>T:p.Ser730=	coding	Benign
22	30934930	C	T	C30934930T	MORC2	NM_001303256.3(MORC2):c.2044G>A:p.Val682Ile	coding	Benign/Likely_benign
22	30935292	G	A	G30935292A	MORC2	NM_001303256.3(MORC2):c.1768C>T:p.Leu590=	coding	Benign/Likely_benign
22	30935452	T	A	T30935452A	MORC2	NM_001303256.3(MORC2):c.1738-130A>T	noncoding	Benign
22	30936670	C	T	C30936670T	MORC2	NM_001303256.3(MORC2):c.1605-27G>A	noncoding	Benign
22	30937049	A	C	A30937049C	MORC2	NM_001303256.3(MORC2):c.1499-12T>G	noncoding	Benign
22	30937644	T	C	T30937644C	MORC2	NM_001303256.3(MORC2):c.1437A>G:p.Pro479=	coding	Benign
22	30937964	C	T	C30937964T	MORC2	NM_001303256.3(MORC2):c.1220G>A:p.Cys407Tyr	coding	Pathogenic
22	30938024	A	G	A30938024G	MORC2	NM_001303256.3(MORC2):c.1214+41T>C	noncoding	Benign
22	30938243	G	A	G30938243A	MORC2	NM_001303256.3(MORC2):c.1074-38C>T	noncoding	Benign
22	30938531	G	A	G30938531A	MORC2	NM_001303256.3(MORC2):c.1074-326C>T	noncoding	Benign
22	30939582	C	T	C30939582T	MORC2	NM_001303256.3(MORC2):c.1073+39G>A	noncoding	Benign
22	30939737	T	A	T30939737A	MORC2	NM_001303256.3(MORC2):c.988-31A>T	noncoding	Benign
22	30940007	A	T	A30940007T	MORC2	NM_001303256.3(MORC2):c.939T>A:p.Ala313=	coding	Benign
22	30940162	G	A	G30940162A	MORC2	NM_001303256.3(MORC2):c.905-121C>T	noncoding	Benign
22	30940730	C	G	C30940730G	MORC2	NM_001303256.3(MORC2):c.904+28G>C	noncoding	Benign
22	30941459	C	G	C30941459G	MORC2	NM_001303256.3(MORC2):c.798G>C:p.Arg266Ser	coding	Pathogenic/Likely_pathogenic
22	30941578	A	G	A30941578G	MORC2	NM_001303256.3(MORC2):c.699-20T>C	noncoding	Benign
22	30942082	C	T	C30942082T	MORC2	NM_001303256.3(MORC2):c.586+30G>A	noncoding	Benign
22	30942483	T	C	T30942483C	MORC2	NM_001303256.3(MORC2):c.427-212A>G	noncoding	Benign
22	30946328	T	C	T30946328C	MORC2	NM_001303256.3(MORC2):c.426+13A>G	noncoding	Benign
22	30946389	G	C	G30946389C	MORC2	NM_001303256.3(MORC2):c.378C>G:p.Thr126=	coding	Benign
22	30946607	C	T	C30946607T	MORC2	NM_001303256.3(MORC2):c.318-158G>A	noncoding	Benign
22	30946770	C	G	C30946770G	MORC2	NM_001303256.3(MORC2):c.318-321G>C	noncoding	Benign
22	30950347	A	C	A30950347C	MORC2	NM_001303256.3(MORC2):c.226+30T>G	noncoding	Benign
22	30950359	A	G	A30950359G	MORC2	NM_001303256.3(MORC2):c.226+18T>C	noncoding	Benign/Likely_benign
22	30958667	G	A	G30958667A	MORC2	NM_001303256.3(MORC2):c.96C>T:p.Ala32=	coding	Benign
22	31611151	C	T	C31611151T	SFI1	NM_001007467.3(SFI1):c.2263C>T:p.Arg755Trp	coding	Benign
22	31619756	G	A	G31619756A	PISD	NM_001326411.2(PISD):c.1086C>T:p.Gly362=	coding	Benign
22	31619780	G	A	G31619780A	PISD	NM_001326411.2(PISD):c.1062C>T:p.Phe354=	coding	Benign
22	31619853	G	T	G31619853T	PISD	NM_001326411.2(PISD):c.1006-17C>A	noncoding	Benign
22	31620635	G	A	G31620635A	PISD	NM_001326411.2(PISD):c.923C>T:p.Thr308Met	coding	Benign
22	31621315	C	G	C31621315G	PISD	NM_001326411.2(PISD):c.697+19G>C	noncoding	Benign
22	31621673	C	T	C31621673T	PISD	NM_001326411.2(PISD):c.534G>A:p.Arg178=	coding	Benign
22	31648180	C	T	C31648180T	PISD	NM_001326411.2(PISD):c.242G>A:p.Arg81Gln	noncoding	Benign
22	31648273	G	A	G31648273A	PISD	NM_001326411.2(PISD):c.149C>T:p.Ala50Val	noncoding	Benign
22	31650761	A	G	A31650761G	PISD	NM_001326411.2(PISD):c.83T>C:p.Ile28Thr	noncoding	Benign
22	31755228	A	G	A31755228G	DEPDC5	NM_001242896.3(DEPDC5):c.58+249A>G	noncoding	Benign
22	31758516	T	C	T31758516C	DEPDC5	NM_001242896.3(DEPDC5):c.59-30T>C	noncoding	Benign
22	31758638	G	A	G31758638A	DEPDC5	NM_001242896.3(DEPDC5):c.146+5G>A	noncoding	Benign/Likely_benign
22	31760654	A	C	A31760654C	DEPDC5	NM_001242896.3(DEPDC5):c.147-2A>C	noncoding	Pathogenic
22	31760696	C	T	C31760696T	DEPDC5	NM_001242896.3(DEPDC5):c.187C>T:p.Gln63Ter	coding	Pathogenic
22	31764722	T	C	T31764722C	DEPDC5	NM_001242896.3(DEPDC5):c.194-253T>C	noncoding	Benign
22	31764878	A	G	A31764878G	DEPDC5	NM_001242896.3(DEPDC5):c.194-97A>G	noncoding	Benign
22	31764992	C	T	C31764992T	DEPDC5	NM_001242896.3(DEPDC5):c.211C>T:p.Gln71Ter	coding	Pathogenic
22	31765028	C	T	C31765028T	DEPDC5	NM_001242896.3(DEPDC5):c.247C>T:p.Gln83Ter	coding	Pathogenic
22	31765106	C	T	C31765106T	DEPDC5	NM_001242896.3(DEPDC5):c.279+46C>T	noncoding	Benign
22	31766583	A	G	A31766583G	DEPDC5	NM_001242896.3(DEPDC5):c.280-2A>G	noncoding	Pathogenic
22	31766629	T	G	T31766629G	DEPDC5	NM_001242896.3(DEPDC5):c.324T>G:p.Tyr108Ter	coding	Pathogenic
22	31768890	T	C	T31768890C	DEPDC5	NM_001242896.3(DEPDC5):c.413+27T>C	noncoding	Benign
22	31778212	A	G	A31778212G	DEPDC5	NM_001242896.3(DEPDC5):c.483+44A>G	noncoding	Benign
22	31783864	G	C	G31783864C	DEPDC5	NM_001242896.3(DEPDC5):c.484-43G>C	noncoding	Benign
22	31783877	C	G	C31783877G	DEPDC5	NM_001242896.3(DEPDC5):c.484-30C>G	noncoding	Benign
22	31783998	T	C	T31783998C	DEPDC5	NM_001242896.3(DEPDC5):c.562+13T>C	noncoding	Benign
22	31784502	G	A	G31784502A	DEPDC5	NM_001242896.3(DEPDC5):c.563-312G>A	noncoding	Benign
22	31784876	G	A	G31784876A	DEPDC5	NM_001242896.3(DEPDC5):c.624+1G>A	coding	Pathogenic
22	31792258	G	A	G31792258A	DEPDC5	NM_001242896.3(DEPDC5):c.694+156G>A	noncoding	Benign
22	31792744	G	T	G31792744T	DEPDC5	NM_001242896.3(DEPDC5):c.695-1G>T	noncoding	Pathogenic
22	31792818	G	A	G31792818A	DEPDC5	NM_001242896.3(DEPDC5):c.767+1G>A	coding	Pathogenic/Likely_pathogenic
22	31797632	G	A	G31797632A	DEPDC5	NM_001242896.3(DEPDC5):c.800G>A:p.Trp267Ter	coding	Pathogenic
22	31797729	G	A	G31797729A	DEPDC5	NM_001242896.3(DEPDC5):c.871+26G>A	noncoding	Benign
22	31798593	C	T	C31798593T	DEPDC5	NM_001242896.3(DEPDC5):c.883C>T:p.Gln295Ter	coding	Pathogenic
22	31802487	G	A	G31802487A	DEPDC5	NM_001242896.3(DEPDC5):c.947-217G>A	noncoding	Benign
22	31802714	G	A	G31802714A	DEPDC5	NM_001242896.3(DEPDC5):c.957G>A:p.Lys319=	coding	Benign
22	31802876	C	T	C31802876T	DEPDC5	NM_001242896.3(DEPDC5):c.1081+38C>T	noncoding	Benign
22	31802882	C	A	C31802882A	DEPDC5	NM_001242896.3(DEPDC5):c.1081+44C>A	noncoding	Benign
22	31804055	G	A	G31804055A	DEPDC5	NM_001242896.3(DEPDC5):c.1082-107G>A	noncoding	Benign
22	31804889	T	A	T31804889A	DEPDC5	NM_001242896.3(DEPDC5):c.1191T>A:p.Tyr397Ter	coding	Pathogenic
22	31805034	A	G	A31805034G	DEPDC5	NM_001242896.3(DEPDC5):c.1217+119A>G	noncoding	Benign
22	31806121	G	A	G31806121A	DEPDC5	NM_001242896.3(DEPDC5):c.1218-1G>A	noncoding	Pathogenic/Likely_pathogenic
22	31806121	G	C	G31806121C	DEPDC5	NM_001242896.3(DEPDC5):c.1218-1G>C	noncoding	Pathogenic
22	31809555	G	A	G31809555A	DEPDC5	NM_001242896.3(DEPDC5):c.1288-56G>A	noncoding	Benign
22	31809573	G	A	G31809573A	DEPDC5	NM_001242896.3(DEPDC5):c.1288-38G>A	noncoding	Benign
22	31809644	A	G	A31809644G	DEPDC5	NM_001242896.3(DEPDC5):c.1321A>G:p.Thr441Ala	coding	Benign/Likely_benign
22	31810526	G	A	G31810526A	DEPDC5	NM_001242896.3(DEPDC5):c.1330G>A:p.Gly444Arg	coding	Benign/Likely_benign
22	31810562	C	T	C31810562T	DEPDC5	NM_001242896.3(DEPDC5):c.1366C>T:p.Gln456Ter	coding	Pathogenic
22	31810627	C	A	C31810627A	DEPDC5	NM_001242896.3(DEPDC5):c.1431C>A:p.Cys477Ter	coding	Pathogenic
22	31814777	T	C	T31814777C	DEPDC5	NM_001242896.3(DEPDC5):c.1446-215T>C	noncoding	Benign
22	31815161	C	G	C31815161G	DEPDC5	NM_001242896.3(DEPDC5):c.1615C>G:p.His539Asp	coding	Benign
22	31815388	T	C	T31815388C	DEPDC5	NM_001242896.3(DEPDC5):c.1666+176T>C	noncoding	Benign
22	31815389	T	C	T31815389C	DEPDC5	NM_001242896.3(DEPDC5):c.1666+177T>C	noncoding	Benign
22	31815390	T	C	T31815390C	DEPDC5	NM_001242896.3(DEPDC5):c.1666+178T>C	noncoding	Benign
22	31821176	C	T	C31821176T	DEPDC5	NM_001242896.3(DEPDC5):c.1871-326C>T	noncoding	Benign
22	31821466	G	A	G31821466A	DEPDC5	NM_001242896.3(DEPDC5):c.1871-36G>A	noncoding	Benign
22	31821522	C	T	C31821522T	DEPDC5	NM_001242896.3(DEPDC5):c.1891C>T:p.Gln631Ter	coding	Pathogenic
22	31821850	G	T	G31821850T	DEPDC5	NM_001242896.3(DEPDC5):c.2006+213G>T	noncoding	Benign
22	31822415	A	C	A31822415C	DEPDC5	NM_001242896.3(DEPDC5):c.2007-278A>C	noncoding	Benign
22	31823049	G	A	G31823049A	DEPDC5	NM_001242896.3(DEPDC5):c.2104+259G>A	noncoding	Benign
22	31833663	G	A	G31833663A	DEPDC5	NM_001242896.3(DEPDC5):c.2105-252G>A	noncoding	Benign
22	31833688	A	G	A31833688G	DEPDC5	NM_001242896.3(DEPDC5):c.2105-227A>G	noncoding	Benign
22	31833846	A	G	A31833846G	DEPDC5	NM_001242896.3(DEPDC5):c.2105-69A>G	noncoding	Benign
22	31834003	G	A	G31834003A	DEPDC5	NM_001242896.3(DEPDC5):c.2170+23G>A	noncoding	Benign
22	31834004	G	A	G31834004A	DEPDC5	NM_001242896.3(DEPDC5):c.2170+24G>A	noncoding	Benign
22	31834077	G	A	G31834077A	DEPDC5	NM_001242896.3(DEPDC5):c.2170+97G>A	noncoding	Benign
22	31834113	C	T	C31834113T	DEPDC5	NM_001242896.3(DEPDC5):c.2170+133C>T	noncoding	Benign
22	31834143	T	C	T31834143C	DEPDC5	NM_001242896.3(DEPDC5):c.2170+163T>C	noncoding	Benign
22	31834199	G	A	G31834199A	DEPDC5	NM_001242896.3(DEPDC5):c.2170+219G>A	noncoding	Benign
22	31837203	G	A	G31837203A	DEPDC5	NM_001242896.3(DEPDC5):c.2354+48G>A	noncoding	Benign
22	31838920	G	A	G31838920A	DEPDC5	NM_001242896.3(DEPDC5):c.2515+75G>A	noncoding	Benign
22	31842867	C	T	C31842867T	DEPDC5	NM_001242896.3(DEPDC5):c.2516-228C>T	noncoding	Benign
22	31842989	A	G	A31842989G	DEPDC5	NM_001242896.3(DEPDC5):c.2516-106A>G	noncoding	Benign
22	31843377	C	T	C31843377T	DEPDC5	NM_001242896.3(DEPDC5):c.2633+165C>T	noncoding	Benign
22	31845072	T	A	T31845072A	DEPDC5	NM_001242896.3(DEPDC5):c.2856T>A:p.Cys952Ter	coding	Pathogenic
22	31845114	C	A	C31845114A	DEPDC5	NM_001242896.3(DEPDC5):c.2898C>A:p.Cys966Ter	coding	Pathogenic
22	31845221	C	A	C31845221A	DEPDC5	NM_001242896.3(DEPDC5):c.3005C>A:p.Ser1002Ter	coding	Pathogenic
22	31845266	G	A	G31845266A	DEPDC5	NM_001242896.3(DEPDC5):c.3021+29G>A	noncoding	Benign
22	31846911	G	C	G31846911C	DEPDC5	NM_001242896.3(DEPDC5):c.3099G>C:p.Val1033=	coding	Benign
22	31846967	A	G	A31846967G	DEPDC5	NM_001242896.3(DEPDC5):c.3155A>G:p.Lys1052Arg	coding	Benign/Likely_benign
22	31846972	G	A	G31846972A	DEPDC5	NM_001242896.3(DEPDC5):c.3155+5G>A	noncoding	Pathogenic
22	31847018	G	A	G31847018A	DEPDC5	NM_001242896.3(DEPDC5):c.3155+51G>A	noncoding	Benign
22	31857392	C	A	C31857392A	DEPDC5	NM_001242896.3(DEPDC5):c.3156-53C>A	noncoding	Benign
22	31857448	C	A	C31857448A	DEPDC5	NM_001242896.3(DEPDC5):c.3159C>A:p.Cys1053Ter	coding	Pathogenic
22	31857484	G	A	G31857484A	DEPDC5	NM_001242896.3(DEPDC5):c.3195G>A:p.Lys1065=	coding	Benign
22	31857494	C	T	C31857494T	DEPDC5	NM_001242896.3(DEPDC5):c.3205C>T:p.Gln1069Ter	coding	Pathogenic
22	31861365	C	T	C31861365T	DEPDC5	NM_001242896.3(DEPDC5):c.3265-3C>T	noncoding	Benign/Likely_benign
22	31861418	C	T	C31861418T	DEPDC5	NM_001242896.3(DEPDC5):c.3315C>T:p.Ser1105=	coding	Benign/Likely_benign
22	31870516	C	T	C31870516T	DEPDC5	NM_001242896.3(DEPDC5):c.3331-74C>T	noncoding	Benign
22	31870560	A	T	A31870560T	DEPDC5	NM_001242896.3(DEPDC5):c.3331-30A>T	noncoding	Benign
22	31870571	A	G	A31870571G	DEPDC5	NM_001242896.3(DEPDC5):c.3331-19A>G	noncoding	Benign
22	31871056	A	G	A31871056G	DEPDC5	NM_001242896.3(DEPDC5):c.3485+312A>G	noncoding	Benign
22	31873155	G	A	G31873155A	DEPDC5	NM_001242896.3(DEPDC5):c.3486-100G>A	noncoding	Benign
22	31874347	G	A	G31874347A	DEPDC5	NM_001242896.3(DEPDC5):c.3638G>A:p.Trp1213Ter	coding	Pathogenic
22	31874423	G	A	G31874423A	DEPDC5	NM_001242896.3(DEPDC5):c.3696+18G>A	noncoding	Benign/Likely_benign
22	31875946	C	T	C31875946T	DEPDC5	NM_001242896.3(DEPDC5):c.3697-211C>T	noncoding	Benign
22	31876122	C	T	C31876122T	DEPDC5	NM_001242896.3(DEPDC5):c.3697-35C>T	noncoding	Benign
22	31879367	T	C	T31879367C	DEPDC5	NM_001242896.3(DEPDC5):c.3806-158T>C	noncoding	Benign
22	31879803	G	A	G31879803A	DEPDC5	NM_001242896.3(DEPDC5):c.4033+51G>A	noncoding	Benign
22	31879866	G	A	G31879866A	DEPDC5	NM_001242896.3(DEPDC5):c.4033+114G>A	noncoding	Benign
22	31879956	C	T	C31879956T	DEPDC5	NM_001242896.3(DEPDC5):c.4033+204C>T	noncoding	Benign
22	31893654	G	A	G31893654A	DEPDC5	NM_001242896.3(DEPDC5):c.4106G>A:p.Trp1369Ter	coding	Pathogenic
22	31893670	C	A	C31893670A	DEPDC5	NM_001242896.3(DEPDC5):c.4122C>A:p.Tyr1374Ter	coding	Pathogenic
22	31893933	A	G	A31893933G	DEPDC5	NM_001242896.3(DEPDC5):c.4203+182A>G	noncoding	Benign
22	31895389	A	G	A31895389G	DEPDC5	NM_001242896.3(DEPDC5):c.4203+1638A>G	noncoding	Benign
22	31901764	G	A	G31901764A	DEPDC5	NM_001242896.3(DEPDC5):c.4398G>A:p.Trp1466Ter	coding	Pathogenic
22	31901768	C	T	C31901768T	DEPDC5	NM_001242896.3(DEPDC5):c.4402C>T:p.Arg1468Ter	coding	Pathogenic
22	31901846	T	C	T31901846C	DEPDC5	NM_001242896.3(DEPDC5):c.4436+44T>C	noncoding	Benign
22	31901853	T	G	T31901853G	DEPDC5	NM_001242896.3(DEPDC5):c.4436+51T>G	noncoding	Benign
22	31905784	G	A	G31905784A	DEPDC5	NM_001242896.3(DEPDC5):c.4437-200G>A	noncoding	Benign
22	31905951	C	T	C31905951T	DEPDC5	NM_001242896.3(DEPDC5):c.4437-33C>T	noncoding	Benign
22	31905969	C	G	C31905969G	DEPDC5	NM_001242896.3(DEPDC5):c.4437-15C>G	noncoding	Benign
22	31906067	G	A	G31906067A	DEPDC5	NM_001242896.3(DEPDC5):c.4519+1G>A	coding	Pathogenic
22	31906079	G	A	G31906079A	DEPDC5	NM_001242896.3(DEPDC5):c.4519+13G>A	noncoding	Benign/Likely_benign
22	31906335	C	G	C31906335G	DEPDC5	NM_001242896.3(DEPDC5):c.4650C>G:p.Tyr1550Ter	coding	Pathogenic
22	31906358	G	A	G31906358A	DEPDC5	NM_001242896.3(DEPDC5):c.4673G>A:p.Trp1558Ter	coding	Pathogenic
22	31906449	C	T	C31906449T	DEPDC5	NM_001242896.3(DEPDC5):c.4764C>T:p.Val1588=	coding	Benign
22	31906744	C	T	C31906744T	DEPDC5	NM_001242896.3(DEPDC5):c.*247C>T	noncoding	Benign
22	32042954	T	C	T32042954C	SLC5A1	Single_allele	noncoding	Benign
22	32067888	G	A	G32067888A	SLC5A1	NM_000343.4(SLC5A1):c.313-79G>A	noncoding	Benign
22	32068483	G	A	G32068483A	SLC5A1	NM_000343.4(SLC5A1):c.373-13G>A	noncoding	Benign/Likely_benign
22	32068487	C	T	C32068487T	SLC5A1	NM_000343.4(SLC5A1):c.373-9C>T	noncoding	Benign
22	32084518	C	T	C32084518T	SLC5A1	NM_000343.4(SLC5A1):c.744C>T:p.Asn248=	coding	Benign/Likely_benign
22	32084539	C	G	C32084539G	SLC5A1	NM_000343.4(SLC5A1):c.765C>G:p.Cys255Trp	coding	Pathogenic
22	32084649	G	A	G32084649A	SLC5A1	NM_000343.4(SLC5A1):c.875G>A:p.Cys292Tyr	coding	Pathogenic
22	32091682	C	T	C32091682T	SLC5A1	NM_000343.4(SLC5A1):c.1200C>T:p.Ser400=	coding	Benign/Likely_benign
22	32099261	C	T	C32099261T	SLC5A1	NM_000343.4(SLC5A1):c.1359C>T:p.Phe453=	coding	Benign
22	32102068	G	C	G32102068C	SLC5A1	NM_000343.4(SLC5A1):c.1496G>C:p.Arg499Pro	coding	Pathogenic
22	32109984	G	A	G32109984A	SLC5A1	NM_000343.4(SLC5A1):c.1772-6G>A	noncoding	Benign
22	32474587	A	G	A32474587G	FBXO7	Single_allele	noncoding	Benign
22	32474674	C	T	C32474674T	FBXO7	Single_allele	noncoding	Benign
22	32475240	C	T	C32475240T	FBXO7	NM_012179.4(FBXO7):c.122+116C>T	coding	Benign
22	32475243	G	T	G32475243T	FBXO7	NM_012179.4(FBXO7):c.122+119G>T	coding	Benign
22	32475378	G	A	G32475378A	FBXO7	NM_012179.4(FBXO7):c.122+254G>A	coding	Benign
22	32475455	C	A	C32475455A	FBXO7	NM_012179.4(FBXO7):c.122+331C>A	noncoding	Benign
22	32479570	T	C	T32479570C	FBXO7	NM_012179.4(FBXO7):c.417+295T>C	noncoding	Benign
22	32483630	G	T	G32483630T	FBXO7	NM_012179.4(FBXO7):c.418-267G>T	noncoding	Benign
22	32484156	A	G	A32484156G	FBXO7	NM_012179.4(FBXO7):c.645+32A>G	noncoding	Benign
22	32484200	G	A	G32484200A	FBXO7	NM_012179.4(FBXO7):c.645+76G>A	noncoding	Benign
22	32488049	T	A	T32488049A	FBXO7	NM_012179.4(FBXO7):c.871+221T>A	noncoding	Benign
22	32490798	C	T	C32490798T	FBXO7	NM_012179.4(FBXO7):c.872-288C>T	noncoding	Benign
22	32491011	T	C	T32491011C	FBXO7	NM_012179.4(FBXO7):c.872-75T>C	noncoding	Benign
22	32493078	C	G	C32493078G	FBXO7	NM_012179.4(FBXO7):c.968-27C>G	noncoding	Benign
22	32493571	C	T	C32493571T	FBXO7	NM_012179.4(FBXO7):c.1144+290C>T	noncoding	Benign
22	32495703	T	C	T32495703C	FBXO7	NM_012179.4(FBXO7):c.1182+173T>C	noncoding	Benign
22	32498174	G	T	G32498174T	FBXO7	NM_012179.4(FBXO7):c.1213G>T:p.Glu405Ter	coding	Pathogenic
22	32858060	C	T	C32858060T	TIMP3	NM_000362.5(TIMP3):c.360C>T:p.Phe120=	coding	Benign
22	32858296	T	A	T32858296A	TIMP3	NM_000362.5(TIMP3):c.438+158T>A	noncoding	Benign
22	32859260	T	C	T32859260C	TIMP3	NM_000362.5(TIMP3):c.519T>C:p.Gly173=	coding	Benign
22	32859283	A	G	A32859283G	TIMP3	NM_000362.5(TIMP3):c.542A>G:p.His181Arg	coding	Pathogenic
22	32859308	C	T	C32859308T	TIMP3	NM_000362.5(TIMP3):c.567C>T:p.Gly189=	coding	Benign
22	33274693	G	A	G33274693A	LARGE1	NM_133642.5(LARGE1):c.2074-69C>T	noncoding	Benign
22	33274733	C	T	C33274733T	LARGE1	NM_133642.5(LARGE1):c.2074-109G>A	noncoding	Benign
22	33277266	C	A	C33277266A	LARGE1	NM_133642.5(LARGE1):c.1878-11G>T	noncoding	Benign/Likely_benign
22	33283113	C	T	C33283113T	LARGE1	NM_133642.5(LARGE1):c.1877+89G>A	noncoding	Benign
22	33283435	C	A	C33283435A	LARGE1	NM_133642.5(LARGE1):c.1731-87G>T	noncoding	Benign
22	33283436	C	A	C33283436A	LARGE1	NM_133642.5(LARGE1):c.1731-88G>T	noncoding	Benign
22	33304732	G	C	G33304732C	LARGE1	NM_133642.5(LARGE1):c.1452-225C>G	noncoding	Benign
22	33304761	T	G	T33304761G	LARGE1	NM_133642.5(LARGE1):c.1452-254A>C	noncoding	Benign
22	33338119	T	C	T33338119C	LARGE1	NM_133642.5(LARGE1):c.1132-318A>G	noncoding	Benign
22	33381661	G	C	G33381661C	LARGE1	NM_133642.5(LARGE1):c.1131+258C>G	noncoding	Benign
22	33382324	T	C	T33382324C	LARGE1	NM_133642.5(LARGE1):c.1006-280A>G	noncoding	Benign
22	33432595	T	G	T33432595G	LARGE1	NM_133642.5(LARGE1):c.788-330A>C	noncoding	Benign
22	33564562	C	A	C33564562A	LARGE1	NM_133642.5(LARGE1):c.787+286G>T	noncoding	Benign
22	33650510	G	A	G33650510A	LARGE1	NM_133642.5(LARGE1):c.265C>T:p.Arg89Ter	coding	Pathogenic
22	33856557	G	A	G33856557A	LARGE1	NM_133642.5(LARGE1):c.-83+63438C>T	noncoding	Benign
22	35264882	G	T	G35264882T	HMGXB4	NM_001003681.3(HMGXB4):c.494G>T:p.Gly165Val	coding	Benign
22	35333001	G	A	G35333001A	TOM1	NM_005488.3(TOM1):c.920G>A:p.Gly307Asp	coding	Pathogenic
22	35381192	G	C	G35381192C	HMOX1	NM_002133.3(HMOX1):c.19G>C:p.Asp7His	coding	Benign
22	35381210	G	A	G35381210A	HMOX1	NM_002133.3(HMOX1):c.23+14G>A	noncoding	Benign
22	35383212	C	T	C35383212T	HMOX1	NM_002133.3(HMOX1):c.130C>T:p.Arg44Ter	coding	Pathogenic
22	35383230	T	C	T35383230C	HMOX1	NM_002133.3(HMOX1):c.144+4T>C	noncoding	Benign
22	35386666	C	T	C35386666T	HMOX1	NM_002133.3(HMOX1):c.145-19C>T	noncoding	Benign
22	35386918	C	T	C35386918T	HMOX1	NM_002133.3(HMOX1):c.378C>T:p.Pro126=	coding	Benign
22	35386956	G	T	G35386956T	HMOX1	NM_002133.3(HMOX1):c.416G>T:p.Gly139Val	coding	Pathogenic
22	35387119	C	T	C35387119T	HMOX1	NM_002133.3(HMOX1):c.579C>T:p.Pro193=	coding	Benign
22	35387150	A	T	A35387150T	HMOX1	NM_002133.3(HMOX1):c.610A>T:p.Lys204Ter	coding	Pathogenic
22	35387178	T	A	T35387178A	HMOX1	NM_002133.3(HMOX1):c.636+2T>A	noncoding	Pathogenic/Likely_pathogenic
22	35389903	A	G	A35389903G	HMOX1	NM_002133.3(HMOX1):c.676A>G:p.Lys226Glu	coding	Benign
22	35393528	C	T	C35393528T	HMOX1	NM_002133.3(HMOX1):c.797C>T:p.Pro266Leu	coding	Benign
22	35403192	A	G	A35403192G	MCM5	NM_006739.4(MCM5):c.168-15A>G	noncoding	Benign
22	35403352	C	A	C35403352A	MCM5	NM_006739.4(MCM5):c.294+19C>A	noncoding	Benign
22	35403454	G	A	G35403454A	MCM5	NM_006739.4(MCM5):c.335G>A:p.Arg112Gln	coding	Benign
22	35403549	C	T	C35403549T	MCM5	NM_006739.4(MCM5):c.423+7C>T	noncoding	Benign
22	35406597	C	T	C35406597T	MCM5	NM_006739.4(MCM5):c.468C>T:p.Ile156=	coding	Benign
22	35406656	G	A	G35406656A	MCM5	NM_006739.4(MCM5):c.527G>A:p.Arg176His	coding	Benign
22	35406657	C	A	C35406657A	MCM5	NM_006739.4(MCM5):c.528C>A:p.Arg176=	coding	Benign
22	35406668	C	G	C35406668G	MCM5	NM_006739.4(MCM5):c.539C>G:p.Thr180Ser	coding	Benign
22	35406693	C	T	C35406693T	MCM5	NM_006739.4(MCM5):c.564C>T:p.Leu188=	coding	Benign
22	35406725	C	T	C35406725T	MCM5	NM_006739.4(MCM5):c.596C>T:p.Thr199Ile	coding	Benign
22	35408489	C	T	C35408489T	MCM5	NM_006739.4(MCM5):c.678C>T:p.Thr226=	coding	Benign
22	35410822	T	C	T35410822C	MCM5	NM_006739.4(MCM5):c.831T>C:p.Thr277=	coding	Benign
22	35412491	G	A	G35412491A	MCM5	NM_006739.4(MCM5):c.920-19G>A	noncoding	Benign
22	35412607	C	T	C35412607T	MCM5	NM_006739.4(MCM5):c.1017C>T:p.Ile339=	coding	Benign
22	35416622	G	A	G35416622A	MCM5	NM_006739.4(MCM5):c.1414-16G>A	noncoding	Benign
22	35417767	T	A	T35417767A	MCM5	NM_006739.4(MCM5):c.1614T>A:p.Thr538=	coding	Benign
22	35417797	G	A	G35417797A	MCM5	NM_006739.4(MCM5):c.1644G>A:p.Gln548=	coding	Benign
22	35419887	G	A	G35419887A	MCM5	NM_006739.4(MCM5):c.1707G>A:p.Lys569=	coding	Benign
22	35421478	C	A	C35421478A	MCM5	NM_006739.4(MCM5):c.1975+18C>A	noncoding	Benign
22	35424182	T	C	T35424182C	MCM5	NM_006739.4(MCM5):c.2132T>C:p.Val711Ala	coding	Benign
22	35761272	C	T	C35761272T	RBFOX2	NM_001349999.2(RBFOX2):c.894G>A:p.Val298=	coding	Benign
22	35765411	A	G	A35765411G	RBFOX2	NM_001349999.2(RBFOX2):c.817+12T>C	noncoding	Benign
22	36028402	A	C	A36028402C	RBFOX2	NM_001349999.2(RBFOX2):c.24T>G:p.His8Gln	coding	Benign
22	36253528	G	A	G36253528A	APOL1	NM_003661.4(APOL1):c.-20+309G>A	noncoding	Benign
22	36253745	G	A	G36253745A	APOL1	NM_003661.4(APOL1):c.-20+526G>A	noncoding	Benign
22	36253756	C	T	C36253756T	APOL1	NM_003661.4(APOL1):c.-20+537C>T	noncoding	Benign
22	36253920	C	T	C36253920T	APOL1	NM_003661.4(APOL1):c.-20+701C>T	noncoding	Benign
22	36256843	G	T	G36256843T	APOL1	NM_003661.4(APOL1):c.45-240G>T	noncoding	Benign
22	36256885	C	T	C36256885T	APOL1	NM_003661.4(APOL1):c.45-198C>T	noncoding	Benign
22	36261386	G	C	G36261386C	APOL1	NM_003661.4(APOL1):c.188-210G>C	noncoding	Benign
22	36261428	A	G	A36261428G	APOL1	NM_003661.4(APOL1):c.188-168A>G	noncoding	Benign
22	36261550	A	G	A36261550G	APOL1	NM_003661.4(APOL1):c.188-46A>G	noncoding	Benign
22	36261582	T	A	T36261582A	APOL1	NM_003661.4(APOL1):c.188-14T>A	noncoding	Benign
22	36261582	T	G	T36261582G	APOL1	NM_003661.4(APOL1):c.188-14T>G	noncoding	Benign
22	36261694	G	A	G36261694A	APOL1	NM_003661.4(APOL1):c.286G>A:p.Gly96Arg	coding	Benign
22	36261743	T	C	T36261743C	APOL1	NM_003661.4(APOL1):c.314+21T>C	noncoding	Benign
22	36265144	T	C	T36265144C	APOL1	NM_003661.4(APOL1):c.315-7T>C	noncoding	Benign
22	36265284	G	A	G36265284A	APOL1	NM_003661.4(APOL1):c.448G>A:p.Glu150Lys	coding	Benign
22	36265490	C	A	C36265490A	APOL1	NM_003661.4(APOL1):c.654C>A:p.Ala218=	coding	Benign
22	36265520	G	A	G36265520A	APOL1	NM_003661.4(APOL1):c.684G>A:p.Met228Ile	coding	Benign
22	36265600	G	A	G36265600A	APOL1	NM_003661.4(APOL1):c.764G>A:p.Arg255Lys	coding	Benign
22	36265628	C	A	C36265628A	APOL1	NM_003661.4(APOL1):c.792C>A:p.Asn264Lys	coding	Benign/Likely_benign
22	36265687	G	A	G36265687A	APOL1	NM_003661.4(APOL1):c.851G>A:p.Arg284His	coding	Benign
22	36265894	T	A	T36265894A	APOL1	NM_003661.4(APOL1):c.1058T>A:p.Val353Glu	coding	Benign
22	36283012	T	C	T36283012C	MYH9	NM_002473.6(MYH9):c.5766-227A>G	noncoding	Benign
22	36284091	A	G	A36284091G	MYH9	NM_002473.6(MYH9):c.5765+2T>C	noncoding	Pathogenic
22	36284668	C	T	C36284668T	MYH9	NM_002473.6(MYH9):c.5484-157G>A	noncoding	Benign
22	36284727	C	T	C36284727T	MYH9	NM_002473.6(MYH9):c.5484-216G>A	noncoding	Benign
22	36284779	C	G	C36284779G	MYH9	NM_002473.6(MYH9):c.5484-268G>C	noncoding	Benign
22	36284829	G	A	G36284829A	MYH9	NM_002473.6(MYH9):c.5483+292C>T	noncoding	Benign
22	36285281	T	C	T36285281C	MYH9	NM_002473.6(MYH9):c.5323A>G:p.Lys1775Glu	coding	Benign/Likely_benign
22	36286660	C	T	C36286660T	MYH9	NM_002473.6(MYH9):c.5061+58G>A	noncoding	Benign
22	36286661	G	A	G36286661A	MYH9	NM_002473.6(MYH9):c.5061+57C>T	noncoding	Benign
22	36286730	G	T	G36286730T	MYH9	NM_002473.6(MYH9):c.5049C>A:p.Ile1683=	coding	Benign/Likely_benign
22	36288046	T	C	T36288046C	MYH9	NM_002473.6(MYH9):c.4932+206A>G	noncoding	Benign
22	36288521	C	T	C36288521T	MYH9	NM_002473.6(MYH9):c.4771-108G>A	noncoding	Benign
22	36288621	G	A	G36288621A	MYH9	NM_002473.6(MYH9):c.4770+106C>T	noncoding	Benign
22	36288676	G	A	G36288676A	MYH9	NM_002473.6(MYH9):c.4770+51C>T	noncoding	Benign
22	36291916	T	C	T36291916C	MYH9	NM_002473.6(MYH9):c.4344+70A>G	noncoding	Benign
22	36293309	G	A	G36293309A	MYH9	NM_002473.6(MYH9):c.4095+20C>T	noncoding	Benign
22	36293980	G	C	G36293980C	MYH9	NM_002473.6(MYH9):c.3837+112C>G	noncoding	Benign
22	36294441	C	T	C36294441T	MYH9	NM_002473.6(MYH9):c.3631-143G>A	noncoding	Benign
22	36295487	C	G	C36295487G	MYH9	NM_002473.6(MYH9):c.3485+18G>C	noncoding	Benign/Likely_benign
22	36295881	G	C	G36295881C	MYH9	NM_002473.6(MYH9):c.3273-164C>G	noncoding	Benign
22	36295923	G	A	G36295923A	MYH9	NM_002473.6(MYH9):c.3273-206C>T	noncoding	Benign
22	36296706	T	C	T36296706C	MYH9	NM_002473.6(MYH9):c.3272+137A>G	noncoding	Benign
22	36299127	C	T	C36299127T	MYH9	NM_002473.6(MYH9):c.2977-85G>A	noncoding	Benign
22	36299201	G	T	G36299201T	MYH9	NM_002473.6(MYH9):c.2977-159C>A	noncoding	Benign
22	36299382	C	T	C36299382T	MYH9	NM_002473.6(MYH9):c.2977-340G>A	noncoding	Benign
22	36299896	C	T	C36299896T	MYH9	NM_002473.6(MYH9):c.2976+231G>A	noncoding	Benign
22	36300041	C	T	C36300041T	MYH9	NM_002473.6(MYH9):c.2976+86G>A	noncoding	Benign
22	36300190	C	T	C36300190T	MYH9	NM_002473.6(MYH9):c.2913G>A:p.Ala971=	coding	Benign
22	36300669	G	A	G36300669A	MYH9	NM_002473.6(MYH9):c.2838+182C>T	noncoding	Benign
22	36301679	T	C	T36301679C	MYH9	NM_002473.6(MYH9):c.2500-14A>G	noncoding	Benign/Likely_benign
22	36303009	T	C	T36303009C	MYH9	NM_002473.6(MYH9):c.2391-333A>G	noncoding	Benign
22	36303733	C	T	C36303733T	MYH9	NM_002473.6(MYH9):c.2390+262G>A	noncoding	Benign
22	36303742	A	G	A36303742G	MYH9	NM_002473.6(MYH9):c.2390+253T>C	noncoding	Benign
22	36304340	G	A	G36304340A	MYH9	NM_002473.6(MYH9):c.2230-185C>T	noncoding	Benign
22	36305984	C	T	C36305984T	MYH9	NM_002473.6(MYH9):c.2105G>A:p.Arg702His	coding	Pathogenic/Likely_pathogenic
22	36306254	C	T	C36306254T	MYH9	NM_002473.6(MYH9):c.2037+160G>A	noncoding	Benign
22	36306846	T	C	T36306846C	MYH9	NM_002473.6(MYH9):c.1844-239A>G	noncoding	Benign
22	36308995	C	T	C36308995T	MYH9	NM_002473.6(MYH9):c.1843+287G>A	noncoding	Benign
22	36309058	G	A	G36309058A	MYH9	NM_002473.6(MYH9):c.1843+224C>T	noncoding	Benign
22	36309082	C	T	C36309082T	MYH9	NM_002473.6(MYH9):c.1843+200G>A	noncoding	Benign
22	36309268	G	T	G36309268T	MYH9	NM_002473.6(MYH9):c.1843+14C>A	noncoding	Benign/Likely_benign
22	36309484	A	G	A36309484G	MYH9	NM_002473.6(MYH9):c.1729-88T>C	noncoding	Benign
22	36309577	G	A	G36309577A	MYH9	NM_002473.6(MYH9):c.1729-181C>T	noncoding	Benign
22	36309578	T	C	T36309578C	MYH9	NM_002473.6(MYH9):c.1729-182A>G	noncoding	Benign
22	36309607	G	A	G36309607A	MYH9	NM_002473.6(MYH9):c.1729-211C>T	noncoding	Benign
22	36311741	A	C	A36311741C	MYH9	NM_002473.6(MYH9):c.1728+308T>G	noncoding	Benign
22	36311741	A	G	A36311741G	MYH9	NM_002473.6(MYH9):c.1728+308T>C	noncoding	Benign
22	36311817	G	A	G36311817A	MYH9	NM_002473.6(MYH9):c.1728+232C>T	noncoding	Benign
22	36311828	C	T	C36311828T	MYH9	NM_002473.6(MYH9):c.1728+221G>A	noncoding	Benign
22	36311906	T	C	T36311906C	MYH9	NM_002473.6(MYH9):c.1728+143A>G	noncoding	Benign
22	36311971	G	A	G36311971A	MYH9	NM_002473.6(MYH9):c.1728+78C>T	noncoding	Benign
22	36312293	A	G	A36312293G	MYH9	NM_002473.6(MYH9):c.1555-71T>C	noncoding	Benign
22	36312438	G	A	G36312438A	MYH9	NM_002473.6(MYH9):c.1555-216C>T	noncoding	Benign
22	36314000	C	T	C36314000T	MYH9	NM_002473.6(MYH9):c.1554+145G>A	noncoding	Benign
22	36314002	T	C	T36314002C	MYH9	NM_002473.6(MYH9):c.1554+143A>G	noncoding	Benign
22	36314011	A	G	A36314011G	MYH9	NM_002473.6(MYH9):c.1554+134T>C	noncoding	Benign
22	36314310	C	T	C36314310T	MYH9	NM_002473.6(MYH9):c.1389G>A:p.Ser463=	coding	Benign/Likely_benign
22	36314474	C	A	C36314474A	MYH9	NM_002473.6(MYH9):c.1381-156G>T	noncoding	Benign
22	36314496	A	G	A36314496G	MYH9	NM_002473.6(MYH9):c.1381-178T>C	noncoding	Benign
22	36316369	C	G	C36316369G	MYH9	NM_002473.6(MYH9):c.1380+148G>C	noncoding	Benign
22	36316427	A	G	A36316427G	MYH9	NM_002473.6(MYH9):c.1380+90T>C	noncoding	Benign
22	36316685	G	A	G36316685A	MYH9	NM_002473.6(MYH9):c.1228-16C>T	noncoding	Benign/Likely_benign
22	36316765	C	G	C36316765G	MYH9	NM_002473.6(MYH9):c.1228-96G>C	noncoding	Benign
22	36316858	G	C	G36316858C	MYH9	NM_002473.6(MYH9):c.1228-189C>G	noncoding	Benign
22	36316918	A	G	A36316918G	MYH9	NM_002473.6(MYH9):c.1228-249T>C	noncoding	Benign
22	36316975	C	T	C36316975T	MYH9	NM_002473.6(MYH9):c.1228-306G>A	noncoding	Benign
22	36318044	C	G	C36318044G	MYH9	NM_002473.6(MYH9):c.1227+163G>C	noncoding	Benign
22	36318590	C	T	C36318590T	MYH9	NM_002473.6(MYH9):c.1109-265G>A	noncoding	Benign
22	36318614	G	A	G36318614A	MYH9	NM_002473.6(MYH9):c.1109-289C>T	noncoding	Benign
22	36318665	T	A	T36318665A	MYH9	NM_002473.6(MYH9):c.1109-340A>T	noncoding	Benign
22	36319422	G	A	G36319422A	MYH9	NM_002473.6(MYH9):c.1108+118C>T	noncoding	Benign
22	36319792	G	A	G36319792A	MYH9	NM_002473.6(MYH9):c.1013-157C>T	noncoding	Benign
22	36319983	G	A	G36319983A	MYH9	NM_002473.6(MYH9):c.1012+237C>T	noncoding	Benign
22	36319984	T	C	T36319984C	MYH9	NM_002473.6(MYH9):c.1012+236A>G	noncoding	Benign
22	36320164	G	A	G36320164A	MYH9	NM_002473.6(MYH9):c.1012+56C>T	noncoding	Benign
22	36320200	T	C	T36320200C	MYH9	NM_002473.6(MYH9):c.1012+20A>G	noncoding	Benign
22	36321994	G	A	G36321994A	MYH9	NM_002473.6(MYH9):c.706-173C>T	noncoding	Benign
22	36322306	G	A	G36322306A	MYH9	NM_002473.6(MYH9):c.705+123C>T	noncoding	Benign
22	36322421	C	A	C36322421A	MYH9	NM_002473.6(MYH9):c.705+8G>T	noncoding	Benign
22	36322813	G	A	G36322813A	MYH9	NM_002473.6(MYH9):c.613-292C>T	noncoding	Benign
22	36326416	C	T	C36326416T	MYH9	NM_002473.6(MYH9):c.612+152G>A	noncoding	Benign
22	36326445	C	A	C36326445A	MYH9	NM_002473.6(MYH9):c.612+123G>T	noncoding	Benign
22	36326489	G	A	G36326489A	MYH9	NM_002473.6(MYH9):c.612+79C>T	noncoding	Benign
22	36327393	T	A	T36327393A	MYH9	NM_002473.6(MYH9):c.518+68A>T	noncoding	Benign
22	36327652	T	G	T36327652G	MYH9	NM_002473.6(MYH9):c.491-164A>C	noncoding	Benign
22	36341271	G	A	G36341271A	MYH9	NM_002473.6(MYH9):c.490+99C>T	noncoding	Benign
22	36341658	C	G	C36341658G	MYH9	NM_002473.6(MYH9):c.334-132G>C	noncoding	Benign
22	36341710	C	T	C36341710T	MYH9	NM_002473.6(MYH9):c.334-184G>A	noncoding	Benign
22	36348843	C	G	C36348843G	MYH9	NM_002473.6(MYH9):c.333+61G>C	noncoding	Benign
22	36348845	C	T	C36348845T	MYH9	NM_002473.6(MYH9):c.333+59G>A	noncoding	Benign
22	36348854	A	C	A36348854C	MYH9	NM_002473.6(MYH9):c.333+50T>G	noncoding	Benign
22	36348857	T	C	T36348857C	MYH9	NM_002473.6(MYH9):c.333+47A>G	noncoding	Benign
22	36348960	T	C	T36348960C	MYH9	NM_002473.6(MYH9):c.277A>G:p.Asn93Asp	coding	Pathogenic
22	36349140	A	G	A36349140G	MYH9	NM_002473.6(MYH9):c.97T>C:p.Trp33Arg	coding	Pathogenic
22	36349401	C	A	C36349401A	MYH9	NM_002473.6(MYH9):c.-19-146G>T	noncoding	Benign
22	36468016	G	T	G36468016T	TXN2	NM_012473.4(TXN2):c.388-99C>A	noncoding	Benign
22	36476703	T	G	T36476703G	TXN2	NM_012473.4(TXN2):c.387+30A>C	noncoding	Benign
22	36481011	A	G	A36481011G	TXN2	NM_012473.4(TXN2):c.1-174T>C	noncoding	Benign
22	36566362	C	G	C36566362G	CACNG2	NM_006078.5(CACNG2):c.427G>C:p.Val143Leu	coding	Pathogenic
22	36762940	C	T	C36762940T	IFT27	NM_001177701.3(IFT27):c.426G>A:p.Ala142=	coding	Benign
22	36762962	G	C	G36762962C	IFT27	NM_001177701.3(IFT27):c.404C>G:p.Ser135Ter	coding	Pathogenic
22	36762975	G	A	G36762975A	IFT27	NM_001177701.3(IFT27):c.391C>T:p.Arg131Ter	coding	Pathogenic
22	36764051	C	T	C36764051T	IFT27	NM_001177701.3(IFT27):c.235-15G>A	noncoding	Benign
22	36767285	C	T	C36767285T	IFT27	NM_001177701.3(IFT27):c.174+21G>A	noncoding	Benign
22	36767789	G	A	G36767789A	IFT27	NM_001177701.3(IFT27):c.108C>T:p.Tyr36=	coding	Benign
22	36860804	G	A	G36860804A	NCF4	Single_allele	noncoding	Benign
22	36861135	G	A	G36861135A	NCF4	NM_000631.5(NCF4):c.-37G>A	noncoding	Benign
22	36862461	T	C	T36862461C	NCF4	NM_000631.5(NCF4):c.32+1258T>C	noncoding	Benign
22	36863879	C	T	C36863879T	NCF4	NM_000631.5(NCF4):c.33-166C>T	noncoding	Benign
22	36864635	A	G	A36864635G	NCF4	NM_000631.5(NCF4):c.118-284A>G	noncoding	Benign
22	36864771	A	G	A36864771G	NCF4	NM_000631.5(NCF4):c.118-148A>G	noncoding	Benign
22	36864918	G	A	G36864918A	NCF4	NM_000631.5(NCF4):c.118-1G>A	noncoding	Pathogenic/Likely_pathogenic
22	36867576	G	A	G36867576A	NCF4	NM_000631.5(NCF4):c.342+114G>A	noncoding	Benign
22	36867664	C	T	C36867664T	NCF4	NM_000631.5(NCF4):c.342+202C>T	noncoding	Benign
22	36870076	G	A	G36870076A	NCF4	NM_000631.5(NCF4):c.343-339G>A	noncoding	Benign
22	36870078	G	A	G36870078A	NCF4	NM_000631.5(NCF4):c.343-337G>A	noncoding	Benign
22	36870280	A	G	A36870280G	NCF4	NM_000631.5(NCF4):c.343-135A>G	noncoding	Benign
22	36870342	C	T	C36870342T	NCF4	NM_000631.5(NCF4):c.343-73C>T	noncoding	Benign
22	36870562	G	C	G36870562C	NCF4	NM_000631.5(NCF4):c.470+20G>C	noncoding	Benign
22	36870839	G	A	G36870839A	NCF4	NM_000631.5(NCF4):c.470+297G>A	noncoding	Benign
22	36871385	C	T	C36871385T	NCF4	NM_000631.5(NCF4):c.471-267C>T	noncoding	Benign
22	36871726	C	A	C36871726A	NCF4	NM_000631.5(NCF4):c.528+17C>A	noncoding	Benign
22	36871881	G	A	G36871881A	NCF4	NM_000631.5(NCF4):c.528+172G>A	noncoding	Benign
22	36871901	C	A	C36871901A	NCF4	NM_000631.5(NCF4):c.528+192C>A	noncoding	Benign
22	36871917	G	A	G36871917A	NCF4	NM_000631.5(NCF4):c.528+208G>A	noncoding	Benign
22	36872037	A	G	A36872037G	NCF4	NM_000631.5(NCF4):c.529-290A>G	noncoding	Benign
22	36872215	C	T	C36872215T	NCF4	NM_000631.5(NCF4):c.529-112C>T	noncoding	Benign
22	36872459	A	G	A36872459G	NCF4	NM_000631.5(NCF4):c.627+34A>G	noncoding	Benign
22	36872513	A	G	A36872513G	NCF4	NM_000631.5(NCF4):c.627+88A>G	noncoding	Benign
22	36875389	C	A	C36875389A	NCF4	NM_000631.5(NCF4):c.628-264C>A	noncoding	Benign
22	36876144	G	A	G36876144A	NCF4	NM_000631.5(NCF4):c.824+50G>A	noncoding	Benign
22	36876330	G	T	G36876330T	NCF4	NM_000631.5(NCF4):c.824+236G>T	noncoding	Benign
22	36877414	A	G	A36877414G	NCF4	NM_000631.5(NCF4):c.825-214A>G	noncoding	Benign
22	36877763	C	T	C36877763T	NCF4	NM_000631.5(NCF4):c.960C>T:p.Phe320=	coding	Benign
22	36877814	G	A	G36877814A	NCF4	NM_000631.5(NCF4):c.1011G>A:p.Thr337=	coding	Benign
22	36921806	T	C	T36921806C	CSF2RB	NM_000395.3(CSF2RB):c.-172-230T>C	noncoding	Benign
22	36921872	C	T	C36921872T	CSF2RB	NM_000395.3(CSF2RB):c.-172-164C>T	noncoding	Benign
22	36921928	A	G	A36921928G	CSF2RB	NM_000395.3(CSF2RB):c.-172-108A>G	noncoding	Benign
22	36921972	G	T	G36921972T	CSF2RB	NM_000395.3(CSF2RB):c.-172-64G>T	noncoding	Benign
22	36921991	C	T	C36921991T	CSF2RB	NM_000395.3(CSF2RB):c.-172-45C>T	noncoding	Benign
22	36922267	C	A	C36922267A	CSF2RB	NM_000395.3(CSF2RB):c.60C>A:p.Ser20Arg	coding	Benign
22	36922276	G	A	G36922276A	CSF2RB	NM_000395.3(CSF2RB):c.69G>A:p.Gly23=	coding	Benign
22	36922384	C	T	C36922384T	CSF2RB	NM_000395.3(CSF2RB):c.76+101C>T	noncoding	Benign
22	36922404	G	A	G36922404A	CSF2RB	NM_000395.3(CSF2RB):c.76+121G>A	noncoding	Benign
22	36922437	G	A	G36922437A	CSF2RB	NM_000395.3(CSF2RB):c.76+154G>A	noncoding	Benign
22	36922473	T	C	T36922473C	CSF2RB	NM_000395.3(CSF2RB):c.76+190T>C	noncoding	Benign
22	36922967	G	A	G36922967A	CSF2RB	NM_000395.3(CSF2RB):c.77-277G>A	noncoding	Benign
22	36923039	T	G	T36923039G	CSF2RB	NM_000395.3(CSF2RB):c.77-205T>G	noncoding	Benign
22	36923383	G	T	G36923383T	CSF2RB	NM_000395.3(CSF2RB):c.200+16G>T	noncoding	Benign
22	36923394	C	G	C36923394G	CSF2RB	NM_000395.3(CSF2RB):c.200+27C>G	noncoding	Benign
22	36923547	G	C	G36923547C	CSF2RB	NM_000395.3(CSF2RB):c.200+180G>C	noncoding	Benign
22	36925693	C	T	C36925693T	CSF2RB	NM_000395.3(CSF2RB):c.201-294C>T	noncoding	Benign
22	36925740	C	G	C36925740G	CSF2RB	NM_000395.3(CSF2RB):c.201-247C>G	noncoding	Benign
22	36925818	G	A	G36925818A	CSF2RB	NM_000395.3(CSF2RB):c.201-169G>A	noncoding	Benign
22	36925931	T	C	T36925931C	CSF2RB	NM_000395.3(CSF2RB):c.201-56T>C	noncoding	Benign
22	36925970	G	A	G36925970A	CSF2RB	NM_000395.3(CSF2RB):c.201-17G>A	noncoding	Benign
22	36929363	G	A	G36929363A	CSF2RB	NM_000395.3(CSF2RB):c.392-39G>A	noncoding	Benign
22	36929662	C	T	C36929662T	CSF2RB	NM_000395.3(CSF2RB):c.573C>T:p.Asn191=	coding	Benign
22	36929733	G	A	G36929733A	CSF2RB	NM_000395.3(CSF2RB):c.644G>A:p.Arg215His	coding	Benign/Likely_benign
22	36930707	C	G	C36930707G	CSF2RB	NM_000395.3(CSF2RB):c.889C>G:p.Leu297Val	coding	Benign
22	36932709	A	G	A36932709G	CSF2RB	NM_000395.3(CSF2RB):c.1013-56A>G	noncoding	Benign
22	36932924	G	C	G36932924C	CSF2RB	NM_000395.3(CSF2RB):c.1152+20G>C	noncoding	Benign
22	36932926	G	C	G36932926C	CSF2RB	NM_000395.3(CSF2RB):c.1152+22G>C	noncoding	Benign
22	36933069	G	C	G36933069C	CSF2RB	NM_000395.3(CSF2RB):c.1152+165G>C	noncoding	Benign
22	36933634	T	C	T36933634C	CSF2RB	NM_000395.3(CSF2RB):c.1153-198T>C	noncoding	Benign
22	36935263	A	G	A36935263G	CSF2RB	NM_000395.3(CSF2RB):c.1316-88A>G	noncoding	Benign
22	36935634	C	T	C36935634T	CSF2RB	NM_000395.3(CSF2RB):c.1411C>T:p.Arg471Cys	coding	Benign
22	36935704	A	T	A36935704T	CSF2RB	NM_000395.3(CSF2RB):c.1464+17A>T	noncoding	Benign
22	36936587	G	A	G36936587A	CSF2RB	NM_000395.3(CSF2RB):c.1503G>A:p.Ser501=	coding	Benign
22	36937067	G	T	G36937067T	CSF2RB	NM_000395.3(CSF2RB):c.1569-310G>T	noncoding	Benign
22	36937372	C	T	C36937372T	CSF2RB	NM_000395.3(CSF2RB):c.1569-5C>T	noncoding	Benign
22	36938079	C	T	C36938079T	CSF2RB	NM_000395.3(CSF2RB):c.2271C>T:p.Gly757=	coding	Benign
22	36938310	G	T	G36938310T	CSF2RB	NM_000395.3(CSF2RB):c.2502G>T:p.Ser834=	coding	Benign
22	36938334	G	A	G36938334A	CSF2RB	NM_000395.3(CSF2RB):c.2526G>A:p.Pro842=	coding	Benign
22	36938617	G	A	G36938617A	CSF2RB	NM_000395.3(CSF2RB):c.*115G>A	noncoding	Benign
22	37051501	A	G	A37051501G	KCTD17	Single_allele	noncoding	Benign
22	37051815	G	A	G37051815A	KCTD17	NM_001282684.2(KCTD17):c.55G>A:p.Ala19Thr	coding	Benign
22	37052154	G	A	G37052154A	KCTD17	NM_001282684.2(KCTD17):c.189+205G>A	noncoding	Benign
22	37052192	C	T	C37052192T	KCTD17	NM_001282684.2(KCTD17):c.189+243C>T	noncoding	Benign
22	37056095	C	T	C37056095T	KCTD17	NM_001282684.2(KCTD17):c.299-225C>T	noncoding	Benign
22	37056357	G	A	G37056357A	KCTD17	NM_001282684.2(KCTD17):c.336G>A:p.Pro112=	coding	Benign
22	37057216	G	T	G37057216T	KCTD17	NM_001282684.2(KCTD17):c.391-182G>T	noncoding	Benign
22	37057219	A	G	A37057219G	KCTD17	NM_001282684.2(KCTD17):c.391-179A>G	noncoding	Benign
22	37057412	C	T	C37057412T	KCTD17	NM_001282684.2(KCTD17):c.405C>T:p.His135=	coding	Benign
22	37059263	C	T	C37059263T	KCTD17	NM_001282684.2(KCTD17):c.487-50C>T	noncoding	Benign
22	37059705	T	C	T37059705C	KCTD17	NM_001282684.2(KCTD17):c.612+267T>C	noncoding	Benign
22	37062827	T	C	T37062827C	KCTD17	NM_001282684.2(KCTD17):c.*233T>C	noncoding	Benign
22	37066592	C	G	C37066592G	TMPRSS6	NM_001374504.1(TMPRSS6):c.2250+234G>C	noncoding	Benign
22	37069054	G	A	G37069054A	TMPRSS6	NM_001374504.1(TMPRSS6):c.2113+19C>T	noncoding	Benign
22	37070896	G	A	G37070896A	TMPRSS6	NM_001374504.1(TMPRSS6):c.1672+20C>T	noncoding	Benign
22	37073515	G	A	G37073515A	TMPRSS6	NM_001374504.1(TMPRSS6):c.1555+17C>T	noncoding	Benign
22	37073781	G	A	G37073781A	TMPRSS6	NM_001374504.1(TMPRSS6):c.1442-136C>T	noncoding	Benign
22	37074564	G	A	G37074564A	TMPRSS6	NM_001374504.1(TMPRSS6):c.1441+46C>T	noncoding	Benign
22	37075298	C	A	C37075298A	TMPRSS6	NM_001374504.1(TMPRSS6):c.1197-18G>T	noncoding	Benign
22	37084229	A	G	A37084229G	TMPRSS6	NM_001374504.1(TMPRSS6):c.1196+66T>C	noncoding	Benign
22	37085001	G	C	G37085001C	TMPRSS6	NM_001374504.1(TMPRSS6):c.974-162C>G	noncoding	Benign
22	37089555	T	C	T37089555C	TMPRSS6	NM_001374504.1(TMPRSS6):c.836+23A>G	noncoding	Benign
22	37095505	T	C	T37095505C	TMPRSS6	NM_001374504.1(TMPRSS6):c.631+46A>G	noncoding	Benign
22	37098278	T	C	T37098278C	TMPRSS6	NM_001374504.1(TMPRSS6):c.336+138A>G	noncoding	Benign
22	37098380	T	C	T37098380C	TMPRSS6	NM_001374504.1(TMPRSS6):c.336+36A>G	noncoding	Benign
22	37098681	T	C	T37098681C	TMPRSS6	NM_001374504.1(TMPRSS6):c.203-132A>G	noncoding	Benign
22	37098774	A	G	A37098774G	TMPRSS6	NM_001374504.1(TMPRSS6):c.203-225T>C	noncoding	Benign
22	37128579	G	T	G37128579T	IL2RB	NM_000878.5(IL2RB):c.1173C>A:p.Asp391Glu	coding	Benign
22	37128600	G	A	G37128600A	IL2RB	NM_000878.5(IL2RB):c.1152C>T:p.Tyr384=	coding	Benign
22	37135336	G	A	G37135336A	IL2RB	NM_000878.5(IL2RB):c.810C>T:p.Thr270=	coding	Benign/Likely_benign
22	37135396	G	A	G37135396A	IL2RB	NM_000878.5(IL2RB):c.750C>T:p.Gly250=	coding	Benign
22	37136215	C	T	C37136215T	IL2RB	NM_000878.5(IL2RB):c.703+13G>A	noncoding	Benign
22	37136401	G	A	G37136401A	IL2RB	NM_000878.5(IL2RB):c.538-8C>T	noncoding	Benign
22	37137746	C	G	C37137746G	IL2RB	NM_000878.5(IL2RB):c.389-11G>C	noncoding	Benign
22	37137752	G	A	G37137752A	IL2RB	NM_000878.5(IL2RB):c.389-17C>T	noncoding	Benign
22	37137755	G	C	G37137755C	IL2RB	NM_000878.5(IL2RB):c.389-20C>G	noncoding	Benign
22	37137755	G	T	G37137755T	IL2RB	NM_000878.5(IL2RB):c.389-20C>A	noncoding	Benign
22	37142486	A	G	A37142486G	IL2RB	NM_000878.5(IL2RB):c.230T>C:p.Leu77Pro	coding	Pathogenic
22	37143598	G	A	G37143598A	IL2RB	NM_000878.5(IL2RB):c.126C>T:p.Ala42=	coding	Benign/Likely_benign
22	37143605	G	A	G37143605A	IL2RB	NM_000878.5(IL2RB):c.119C>T:p.Ser40Leu	coding	Pathogenic
22	37144082	C	T	C37144082T	IL2RB	NM_000878.5(IL2RB):c.88+3G>A	noncoding	Benign
22	37144145	G	C	G37144145C	IL2RB	NM_000878.5(IL2RB):c.28C>G:p.Leu10Val	coding	Benign
22	37226821	C	A	C37226821A	RAC2	NM_002872.5(RAC2):c.449-18G>T	noncoding	Benign/Likely_benign
22	37231194	T	C	T37231194C	RAC2	NM_002872.5(RAC2):c.448+37A>G	noncoding	Benign
22	37231206	G	C	G37231206C	RAC2	NM_002872.5(RAC2):c.448+25C>G	noncoding	Benign
22	37231220	G	A	G37231220A	RAC2	NM_002872.5(RAC2):c.448+11C>T	noncoding	Benign
22	37232859	C	T	C37232859T	RAC2	NM_002872.5(RAC2):c.167G>A:p.Trp56Ter	coding	Pathogenic
22	37244098	C	T	C37244098T	RAC2	NM_002872.5(RAC2):c.35+16G>A	noncoding	Benign/Likely_benign
22	37506317	G	A	G37506317A	CARD10	NM_014550.4(CARD10):c.1258C>T:p.Arg420Cys	coding	Pathogenic
22	37701731	T	A	T37701731A	TRIOBP	NM_001039141.3(TRIOBP):c.114+252T>A	noncoding	Benign
22	37710101	C	T	C37710101T	TRIOBP	NM_001039141.3(TRIOBP):c.115-326C>T	noncoding	Benign
22	37710218	T	G	T37710218G	TRIOBP	NM_001039141.3(TRIOBP):c.115-209T>G	noncoding	Benign
22	37710252	A	T	A37710252T	TRIOBP	NM_001039141.3(TRIOBP):c.115-175A>T	noncoding	Benign
22	37713098	C	T	C37713098T	TRIOBP	NM_001039141.3(TRIOBP):c.255-112C>T	noncoding	Benign
22	37713108	G	T	G37713108T	TRIOBP	NM_001039141.3(TRIOBP):c.255-102G>T	noncoding	Benign
22	37715803	G	C	G37715803C	TRIOBP	NM_001039141.3(TRIOBP):c.497G>C:p.Ser166Thr	coding	Benign/Likely_benign
22	37723207	C	T	C37723207T	TRIOBP	NM_001039141.3(TRIOBP):c.651C>T:p.Ser217=	coding	Benign
22	37723521	C	T	C37723521T	TRIOBP	NM_001039141.3(TRIOBP):c.965C>T:p.Ala322Val	coding	Benign/Likely_benign
22	37723688	C	T	C37723688T	TRIOBP	NM_001039141.3(TRIOBP):c.1132C>T:p.Pro378Ser	coding	Benign
22	37723778	C	T	C37723778T	TRIOBP	NM_001039141.3(TRIOBP):c.1222C>T:p.Gln408Ter	coding	Pathogenic
22	37723782	G	A	G37723782A	TRIOBP	NM_001039141.3(TRIOBP):c.1226G>A:p.Arg409Gln	coding	Benign/Likely_benign
22	37723976	C	T	C37723976T	TRIOBP	NM_001039141.3(TRIOBP):c.1420C>T:p.Arg474Ter	coding	Pathogenic
22	37724147	G	A	G37724147A	TRIOBP	NM_001039141.3(TRIOBP):c.1591G>A:p.Ala531Thr	coding	Benign/Likely_benign
22	37724147	G	C	G37724147C	TRIOBP	NM_001039141.3(TRIOBP):c.1591G>C:p.Ala531Pro	coding	Benign
22	37724422	T	C	T37724422C	TRIOBP	NM_001039141.3(TRIOBP):c.1866T>C:p.Asp622=	coding	Benign/Likely_benign
22	37724440	T	C	T37724440C	TRIOBP	NM_001039141.3(TRIOBP):c.1884T>C:p.Cys628=	coding	Benign
22	37724489	C	T	C37724489T	TRIOBP	NM_001039141.3(TRIOBP):c.1933C>T:p.Gln645Ter	coding	Pathogenic/Likely_pathogenic
22	37724661	A	G	A37724661G	TRIOBP	NM_001039141.3(TRIOBP):c.2105A>G:p.Gln702Arg	coding	Benign/Likely_benign
22	37724790	G	A	G37724790A	TRIOBP	NM_001039141.3(TRIOBP):c.2234G>A:p.Arg745Lys	coding	Benign/Likely_benign
22	37724948	C	T	C37724948T	TRIOBP	NM_001039141.3(TRIOBP):c.2392C>T:p.Arg798Trp	coding	Benign
22	37725006	C	G	C37725006G	TRIOBP	NM_001039141.3(TRIOBP):c.2450C>G:p.Thr817Ser	coding	Benign
22	37725012	T	C	T37725012C	TRIOBP	NM_001039141.3(TRIOBP):c.2456T>C:p.Ile819Thr	coding	Benign
22	37725166	A	G	A37725166G	TRIOBP	NM_001039141.3(TRIOBP):c.2610A>G:p.Gln870=	coding	Benign
22	37725220	A	G	A37725220G	TRIOBP	NM_001039141.3(TRIOBP):c.2664A>G:p.Gln888=	coding	Benign
22	37725280	G	A	G37725280A	TRIOBP	NM_001039141.3(TRIOBP):c.2724G>A:p.Ser908=	coding	Benign/Likely_benign
22	37725548	G	A	G37725548A	TRIOBP	NM_001039141.3(TRIOBP):c.2992G>A:p.Ala998Thr	coding	Benign
22	37725629	C	T	C37725629T	TRIOBP	NM_001039141.3(TRIOBP):c.3073C>T:p.Arg1025Ter	coding	Pathogenic/Likely_pathogenic
22	37726323	C	T	C37726323T	TRIOBP	NM_001039141.3(TRIOBP):c.3767C>T:p.Ala1256Val	coding	Benign
22	37733079	G	A	G37733079A	TRIOBP	NM_001039141.3(TRIOBP):c.3948-219G>A	noncoding	Benign
22	37733381	G	A	G37733381A	TRIOBP	NM_001039141.3(TRIOBP):c.4031G>A:p.Arg1344Gln	coding	Benign/Likely_benign
22	37733431	C	T	C37733431T	TRIOBP	NM_001039141.3(TRIOBP):c.4062+19C>T	noncoding	Benign
22	37734368	A	C	A37734368C	TRIOBP	NM_001039141.3(TRIOBP):c.4063-31A>C	noncoding	Benign
22	37734378	A	C	A37734378C	TRIOBP	NM_001039141.3(TRIOBP):c.4063-21A>C	noncoding	Benign
22	37734475	A	G	A37734475G	TRIOBP	NM_001039141.3(TRIOBP):c.4139A>G:p.Glu1380Gly	coding	Benign/Likely_benign
22	37734665	A	G	A37734665G	TRIOBP	NM_001039141.3(TRIOBP):c.4329A>G:p.Leu1443=	coding	Benign/Likely_benign
22	37740580	A	C	A37740580C	TRIOBP	NM_001039141.3(TRIOBP):c.5185-315A>C	noncoding	Benign
22	37740669	C	T	C37740669T	TRIOBP	NM_001039141.3(TRIOBP):c.5185-226C>T	noncoding	Benign
22	37746099	G	C	G37746099C	TRIOBP	NM_001039141.3(TRIOBP):c.5322+5067G>C	noncoding	Benign
22	37746192	G	T	G37746192T	TRIOBP	NM_001039141.3(TRIOBP):c.5322+5160G>T	noncoding	Benign
22	37746461	A	G	A37746461G	TRIOBP	NM_001039141.3(TRIOBP):c.5323-5311A>G	noncoding	Benign
22	37754829	A	G	A37754829G	TRIOBP	NM_001039141.3(TRIOBP):c.5380-48A>G	noncoding	Benign
22	37755509	G	A	G37755509A	TRIOBP	NM_001039141.3(TRIOBP):c.5578-41G>A	noncoding	Benign
22	37755969	A	G	A37755969G	TRIOBP	NM_001039141.3(TRIOBP):c.5687+310A>G	noncoding	Benign
22	37757383	C	G	C37757383G	TRIOBP	NM_001039141.3(TRIOBP):c.5688-230C>G	noncoding	Benign
22	37757811	A	G	A37757811G	TRIOBP	NM_001039141.3(TRIOBP):c.5886A>G:p.Pro1962=	coding	Benign/Likely_benign
22	37758406	G	C	G37758406C	TRIOBP	NM_001039141.3(TRIOBP):c.6213+268G>C	noncoding	Benign
22	37759310	C	G	C37759310G	TRIOBP	NM_001039141.3(TRIOBP):c.6324+46C>G	noncoding	Benign
22	37767770	C	G	C37767770G	TRIOBP	NM_001039141.3(TRIOBP):c.6473-304C>G	noncoding	Benign
22	37768860	C	G	C37768860G	TRIOBP	NM_001039141.3(TRIOBP):c.6576-168C>G	noncoding	Benign
22	37769262	G	A	G37769262A	TRIOBP	NM_001039141.3(TRIOBP):c.6736G>A:p.Glu2246Lys	coding	Benign/Likely_benign
22	37769442	G	A	G37769442A	TRIOBP	NM_001039141.3(TRIOBP):c.6849+67G>A	noncoding	Benign
22	37769580	G	A	G37769580A	TRIOBP	NM_001039141.3(TRIOBP):c.6849+205G>A	noncoding	Benign
22	37771749	G	T	G37771749T	TRIOBP	NM_001039141.3(TRIOBP):c.6936+13G>T	noncoding	Benign/Likely_benign
22	37772501	T	C	T37772501C	TRIOBP	NM_001039141.3(TRIOBP):c.6937-100T>C	noncoding	Benign
22	37773013	A	G	A37773013G	TRIOBP	NM_001039141.3(TRIOBP):c.*2+249A>G	noncoding	Benign
22	37773779	T	C	T37773779C	TRIOBP	NM_001039141.3(TRIOBP):c.*3-4T>C	noncoding	Benign
22	37973701	G	A	G37973701A	SOX10	NM_006941.4(SOX10):c.1195C>T:p.Gln399Ter	coding	Pathogenic
22	37973833	G	A	G37973833A	SOX10	NM_006941.4(SOX10):c.1063C>T:p.Gln355Ter	coding	Pathogenic
22	37977994	G	T	G37977994T	SOX10	NM_006941.4(SOX10):c.570C>A:p.Cys190Ter	coding	Pathogenic
22	37978041	G	A	G37978041A	SOX10	NM_006941.4(SOX10):c.523C>T:p.Pro175Ser	coding	Pathogenic/Likely_pathogenic
22	37978044	G	A	G37978044A	SOX10	NM_006941.4(SOX10):c.520C>T:p.Gln174Ter	coding	Pathogenic
22	37978083	G	A	G37978083A	SOX10	NM_006941.4(SOX10):c.481C>T:p.Arg161Cys	coding	Pathogenic
22	37978101	C	A	C37978101A	SOX10	NM_006941.4(SOX10):c.463G>T:p.Glu155Ter	coding	Pathogenic
22	37978116	T	A	T37978116A	SOX10	NM_006941.4(SOX10):c.448A>T:p.Lys150Ter	coding	Pathogenic
22	37978116	T	C	T37978116C	SOX10	NM_006941.4(SOX10):c.448A>G:p.Lys150Glu	coding	Pathogenic
22	37978154	C	T	C37978154T	SOX10	NM_006941.4(SOX10):c.429-19G>A	noncoding	Benign/Likely_benign
22	37978282	C	T	C37978282T	SOX10	NM_006941.4(SOX10):c.429-147G>A	noncoding	Benign
22	37983339	G	A	G37983339A	SOX10	NM_006941.4(SOX10):c.428+18C>T	noncoding	Benign
22	37983356	C	T	C37983356T	SOX10	NM_006941.4(SOX10):c.428+1G>A	noncoding	Pathogenic
22	37983361	A	G	A37983361G	SOX10	NM_006941.4(SOX10):c.424T>C:p.Trp142Arg	coding	Pathogenic/Likely_pathogenic
22	37983390	G	C	G37983390C	SOX10	NM_006941.4(SOX10):c.395C>G:p.Ala132Gly	coding	Pathogenic
22	37983444	C	T	C37983444T	SOX10	NM_006941.4(SOX10):c.341G>A:p.Trp114Ter	coding	Pathogenic
22	37983449	C	T	C37983449T	SOX10	NM_006941.4(SOX10):c.336G>A:p.Met112Ile	coding	Pathogenic
22	37983459	T	C	T37983459C	SOX10	NM_006941.4(SOX10):c.326A>G:p.Asn109Ser	coding	Pathogenic
22	37983531	C	T	C37983531T	SOX10	NM_006941.4(SOX10):c.254G>A:p.Trp85Ter	coding	Pathogenic
22	37983778	C	A	C37983778A	SOX10	NM_006941.4(SOX10):c.7G>T:p.Glu3Ter	coding	Pathogenic
22	38112227	G	A	G38112227A	PLA2G6	NM_003560.4(PLA2G6):c.2355C>T:p.Thr785=	coding	Benign
22	38112233	C	T	C38112233T	PLA2G6	NM_003560.4(PLA2G6):c.2349G>A:p.Trp783Ter	coding	Pathogenic
22	38112241	C	T	C38112241T	PLA2G6	NM_003560.4(PLA2G6):c.2341G>A:p.Ala781Thr	coding	Pathogenic
22	38112461	C	T	C38112461T	PLA2G6	NM_003560.4(PLA2G6):c.2276+43G>A	noncoding	Benign
22	38112529	C	A	C38112529A	PLA2G6	NM_003560.4(PLA2G6):c.2251G>T:p.Glu751Ter	coding	Pathogenic
22	38112618	C	G	C38112618G	PLA2G6	NM_003560.4(PLA2G6):c.2203-41G>C	noncoding	Benign
22	38112721	G	A	G38112721A	PLA2G6	NM_003560.4(PLA2G6):c.2203-144C>T	noncoding	Benign
22	38113432	C	T	C38113432T	PLA2G6	NM_003560.4(PLA2G6):c.2202+55G>A	noncoding	Benign
22	38113561	G	A	G38113561A	PLA2G6	NM_003560.4(PLA2G6):c.2128C>T:p.Arg710Cys	coding	Pathogenic/Likely_pathogenic
22	38115529	T	C	T38115529C	PLA2G6	NM_003560.4(PLA2G6):c.2032A>G:p.Lys678Glu	coding	Pathogenic
22	38115592	C	T	C38115592T	PLA2G6	NM_003560.4(PLA2G6):c.1969G>A:p.Ala657Thr	coding	Pathogenic
22	38115628	G	A	G38115628A	PLA2G6	NM_003560.4(PLA2G6):c.1933C>T:p.Arg645Ter	coding	Pathogenic
22	38115668	C	T	C38115668T	PLA2G6	NM_003560.4(PLA2G6):c.1893G>A:p.Trp631Ter	coding	Pathogenic
22	38116156	G	A	G38116156A	PLA2G6	NM_003560.4(PLA2G6):c.1798C>T:p.Arg600Trp	coding	Pathogenic/Likely_pathogenic
22	38116183	G	A	G38116183A	PLA2G6	NM_003560.4(PLA2G6):c.1771C>T:p.Arg591Trp	coding	Pathogenic
22	38116237	G	A	G38116237A	PLA2G6	NM_003560.4(PLA2G6):c.1743-26C>T	noncoding	Benign
22	38116348	C	T	C38116348T	PLA2G6	NM_003560.4(PLA2G6):c.1743-137G>A	noncoding	Benign/Likely_benign
22	38116395	G	A	G38116395A	PLA2G6	NM_003560.4(PLA2G6):c.1743-184C>T	noncoding	Benign
22	38122790	G	T	G38122790T	PLA2G6	NM_003560.4(PLA2G6):c.1591+305C>A	noncoding	Benign
22	38123251	G	C	G38123251C	PLA2G6	NM_003560.4(PLA2G6):c.1435C>G:p.His479Asp	coding	Pathogenic/Likely_pathogenic
22	38123328	A	G	A38123328G	PLA2G6	NM_003560.4(PLA2G6):c.1428-70T>C	noncoding	Benign
22	38123506	T	C	T38123506C	PLA2G6	NM_003560.4(PLA2G6):c.1428-248A>G	noncoding	Benign
22	38126542	G	A	G38126542A	PLA2G6	NM_003560.4(PLA2G6):c.1349-93C>T	noncoding	Benign
22	38128142	G	C	G38128142C	PLA2G6	NM_003560.4(PLA2G6):c.1348+127C>G	noncoding	Benign
22	38128168	G	A	G38128168A	PLA2G6	NM_003560.4(PLA2G6):c.1348+101C>T	noncoding	Benign
22	38129132	T	C	T38129132C	PLA2G6	NM_003560.4(PLA2G6):c.1186+322A>G	noncoding	Benign
22	38129140	G	A	G38129140A	PLA2G6	NM_003560.4(PLA2G6):c.1186+314C>T	noncoding	Benign
22	38129437	G	C	G38129437C	PLA2G6	NM_003560.4(PLA2G6):c.1186+17C>G	noncoding	Benign
22	38129453	C	T	C38129453T	PLA2G6	NM_003560.4(PLA2G6):c.1186+1G>A	noncoding	Pathogenic/Likely_pathogenic
22	38129582	G	C	G38129582C	PLA2G6	NM_003560.4(PLA2G6):c.1078-20C>G	noncoding	Benign
22	38132716	A	T	A38132716T	PLA2G6	NM_003560.4(PLA2G6):c.1077+115T>A	noncoding	Benign
22	38132839	C	T	C38132839T	PLA2G6	NM_003560.4(PLA2G6):c.1069G>A:p.Ala357Thr	coding	Pathogenic
22	38132869	C	T	C38132869T	PLA2G6	NM_003560.4(PLA2G6):c.1039G>A:p.Gly347Arg	coding	Pathogenic
22	38132887	C	T	C38132887T	PLA2G6	NM_003560.4(PLA2G6):c.1021G>A:p.Ala341Thr	coding	Pathogenic/Likely_pathogenic
22	38133133	G	A	G38133133A	PLA2G6	NM_003560.4(PLA2G6):c.895-120C>T	noncoding	Benign
22	38134745	G	T	G38134745T	PLA2G6	NM_003560.4(PLA2G6):c.894+243C>A	noncoding	Benign
22	38134908	G	A	G38134908A	PLA2G6	NM_003560.4(PLA2G6):c.894+80C>T	noncoding	Benign
22	38134949	G	A	G38134949A	PLA2G6	NM_003560.4(PLA2G6):c.894+39C>T	noncoding	Benign
22	38135106	T	A	T38135106A	PLA2G6	NM_003560.4(PLA2G6):c.798-22A>T	noncoding	Benign
22	38135180	G	A	G38135180A	PLA2G6	NM_003560.4(PLA2G6):c.798-96C>T	noncoding	Benign
22	38139939	G	A	G38139939A	PLA2G6	NM_003560.4(PLA2G6):c.797+43C>T	noncoding	Benign
22	38139947	G	A	G38139947A	PLA2G6	NM_003560.4(PLA2G6):c.797+35C>T	noncoding	Benign
22	38140461	T	C	T38140461C	PLA2G6	NM_003560.4(PLA2G6):c.610-292A>G	noncoding	Benign
22	38142815	T	C	T38142815C	PLA2G6	NM_003560.4(PLA2G6):c.609+290A>G	noncoding	Benign
22	38142849	T	C	T38142849C	PLA2G6	NM_003560.4(PLA2G6):c.609+256A>G	noncoding	Benign
22	38142905	C	T	C38142905T	PLA2G6	NM_003560.4(PLA2G6):c.609+200G>A	noncoding	Benign
22	38143034	T	C	T38143034C	PLA2G6	NM_003560.4(PLA2G6):c.609+71A>G	noncoding	Benign
22	38143052	C	T	C38143052T	PLA2G6	NM_003560.4(PLA2G6):c.609+53G>A	noncoding	Benign
22	38143077	C	A	C38143077A	PLA2G6	NM_003560.4(PLA2G6):c.609+28G>T	noncoding	Benign
22	38143597	A	G	A38143597G	PLA2G6	NM_003560.4(PLA2G6):c.426-309T>C	noncoding	Benign
22	38144974	G	A	G38144974A	PLA2G6	NM_003560.4(PLA2G6):c.425+464C>T	noncoding	Benign
22	38145461	G	A	G38145461A	PLA2G6	NM_003560.4(PLA2G6):c.402C>T:p.Cys134=	coding	Benign
22	38145746	C	T	C38145746T	PLA2G6	NM_003560.4(PLA2G6):c.210-93G>A	noncoding	Benign
22	38169051	G	A	G38169051A	PLA2G6	NM_003560.4(PLA2G6):c.209+167C>T	noncoding	Benign
22	38169202	G	A	G38169202A	PLA2G6	NM_003560.4(PLA2G6):c.209+16C>T	noncoding	Benign
22	38169523	C	T	C38169523T	PLA2G6	NM_003560.4(PLA2G6):c.-45-52G>A	noncoding	Benign
22	38169697	C	T	C38169697T	PLA2G6	NM_003560.4(PLA2G6):c.-45-226G>A	noncoding	Benign
22	38426693	C	T	C38426693T	KCNJ4	NM_152868.3(KCNJ4):c.*102G>A	noncoding	Benign
22	38427131	T	C	T38427131C	KCNJ4	NM_152868.3(KCNJ4):c.1002A>G:p.Ser334=	coding	Benign
22	38521701	G	T	G38521701T	DMC1	NM_007068.4(DMC1):c.860C>A:p.Pro287His	coding	Pathogenic
22	38555372	T	C	T38555372C	DMC1	NM_007068.4(DMC1):c.364A>G:p.Thr122Ala	coding	Pathogenic
22	38736596	A	T	A38736596T	SUN2	NM_015374.3(SUN2):c.2041-216T>A	noncoding	Benign
22	38738202	C	T	C38738202T	SUN2	NM_015374.3(SUN2):c.2011G>A:p.Gly671Ser	coding	Benign
22	38738710	T	C	T38738710C	SUN2	NM_015374.3(SUN2):c.1824A>G:p.Gln608=	coding	Benign
22	38739332	G	C	G38739332C	SUN2	NM_015374.3(SUN2):c.1663+10C>G	noncoding	Benign
22	38739414	T	C	T38739414C	SUN2	NM_015374.3(SUN2):c.1591A>G:p.Ile531Val	coding	Benign
22	38739694	T	C	T38739694C	SUN2	NM_015374.3(SUN2):c.1578+28A>G	noncoding	Benign
22	38739776	C	T	C38739776T	SUN2	NM_015374.3(SUN2):c.1524G>A:p.Ala508=	coding	Benign
22	38745595	G	A	G38745595A	SUN2	NM_015374.3(SUN2):c.813+89C>T	noncoding	Benign
22	38748802	C	T	C38748802T	SUN2	NM_015374.3(SUN2):c.615-19G>A	noncoding	Benign
22	38749716	C	T	C38749716T	SUN2	NM_015374.3(SUN2):c.614+50G>A	noncoding	Benign
22	38750522	C	T	C38750522T	SUN2	NM_015374.3(SUN2):c.425-202G>A	noncoding	Benign
22	38750881	G	A	G38750881A	SUN2	NM_015374.3(SUN2):c.424+17C>T	noncoding	Benign
22	38750902	G	A	G38750902A	SUN2	NM_015374.3(SUN2):c.420C>T:p.Tyr140=	coding	Benign
22	38751192	G	A	G38751192A	SUN2	NM_015374.3(SUN2):c.286+18C>T	noncoding	Benign
22	38751230	A	C	A38751230C	SUN2	NM_015374.3(SUN2):c.266T>G:p.Leu89Arg	coding	Benign
22	38752447	G	A	G38752447A	SUN2	NM_015374.3(SUN2):c.122+60C>T	noncoding	Benign
22	38752478	G	A	G38752478A	SUN2	NM_015374.3(SUN2):c.122+29C>T	noncoding	Benign
22	38752791	C	A	C38752791A	SUN2	NM_015374.3(SUN2):c.-37-126G>T	noncoding	Benign
22	38752857	T	C	T38752857C	SUN2	NM_015374.3(SUN2):c.-37-192A>G	noncoding	Benign
22	38985899	A	C	A38985899C	APOBEC3B	NM_004900.5(APOBEC3B):c.262A>C:p.Ile88Leu	coding	Benign
22	39225540	A	G	A39225540G	PDGFB	NM_002608.4(PDGFB):c.*28+155T>C	noncoding	Benign
22	39225574	G	A	G39225574A	PDGFB	NM_002608.4(PDGFB):c.*28+121C>T	noncoding	Benign
22	39225750	C	T	C39225750T	PDGFB	NM_002608.4(PDGFB):c.699G>A:p.Thr233=	coding	Benign
22	39225779	G	A	G39225779A	PDGFB	NM_002608.4(PDGFB):c.670C>T:p.Arg224Trp	coding	Benign/Likely_benign
22	39225802	C	T	C39225802T	PDGFB	NM_002608.4(PDGFB):c.647G>A:p.Arg216His	coding	Benign
22	39225888	T	C	T39225888C	PDGFB	NM_002608.4(PDGFB):c.602-41A>G	noncoding	Benign
22	39226053	C	T	C39226053T	PDGFB	NM_002608.4(PDGFB):c.602-206G>A	noncoding	Benign
22	39230019	C	T	C39230019T	PDGFB	NM_002608.4(PDGFB):c.601+65G>A	noncoding	Benign
22	39230230	T	C	T39230230C	PDGFB	NM_002608.4(PDGFB):c.457-2A>G	noncoding	Pathogenic
22	39230370	A	C	A39230370C	PDGFB	NM_002608.4(PDGFB):c.457-142T>G	noncoding	Benign
22	39230414	C	T	C39230414T	PDGFB	NM_002608.4(PDGFB):c.457-186G>A	noncoding	Benign
22	39231625	G	C	G39231625C	PDGFB	NM_002608.4(PDGFB):c.453C>G:p.Val151=	coding	Benign/Likely_benign
22	39233324	C	A	C39233324A	PDGFB	NM_002608.4(PDGFB):c.250+111G>T	noncoding	Benign
22	39233413	T	C	T39233413C	PDGFB	NM_002608.4(PDGFB):c.250+22A>G	noncoding	Benign
22	39233604	G	A	G39233604A	PDGFB	NM_002608.4(PDGFB):c.161-80C>T	noncoding	Benign
22	39235542	T	C	T39235542C	PDGFB	NM_002608.4(PDGFB):c.160+236A>G	noncoding	Benign
22	39235708	T	C	T39235708C	PDGFB	NM_002608.4(PDGFB):c.160+70A>G	noncoding	Benign
22	39235742	C	G	C39235742G	PDGFB	NM_002608.4(PDGFB):c.160+36G>C	noncoding	Benign
22	39235958	G	T	G39235958T	PDGFB	NM_002608.4(PDGFB):c.64-84C>A	noncoding	Benign
22	39240581	C	G	C39240581G	PDGFB	NM_002608.4(PDGFB):c.63+3320G>C	noncoding	Benign
22	39240923	A	G	A39240923G	PDGFB	NM_002608.4(PDGFB):c.63+2978T>C	noncoding	Benign
22	39240925	A	G	A39240925G	PDGFB	NM_002608.4(PDGFB):c.63+2976T>C	noncoding	Benign
22	39240943	T	A	T39240943A	PDGFB	NM_002608.4(PDGFB):c.63+2958A>T	noncoding	Benign
22	39244698	C	T	C39244698T	PDGFB	NM_002608.4(PDGFB):c.-735G>A	noncoding	Benign
22	39318485	C	T	C39318485T	RPL3	NM_000967.4(RPL3):c.111G>A:p.Pro37=	coding	Benign
22	39658943	T	C	T39658943C	CACNA1I	NM_021096.4(CACNA1I):c.2157T>C:p.Ile719=	coding	Benign
22	39659827	T	A	T39659827A	CACNA1I	NM_021096.4(CACNA1I):c.2579T>A:p.Ile860Asn	coding	Pathogenic
22	39659828	C	G	C39659828G	CACNA1I	NM_021096.4(CACNA1I):c.2580C>G:p.Ile860Met	coding	Pathogenic
22	39670118	G	A	G39670118A	CACNA1I	NM_021096.4(CACNA1I):c.4275G>A:p.Met1425Ile	coding	Pathogenic
22	40156115	G	A	G40156115A	TNRC6B	NM_001024843.2(TNRC6B):c.46G>A:p.Val16Met	coding	Benign
22	40246025	C	T	C40246025T	TNRC6B	NM_001162501.2(TNRC6B):c.16C>T:p.Gln6Ter	coding	Pathogenic
22	40265320	C	T	C40265320T	TNRC6B	NM_001162501.2(TNRC6B):c.1090C>T:p.Gln364Ter	coding	Pathogenic
22	40266109	C	T	C40266109T	TNRC6B	NM_001162501.2(TNRC6B):c.1879C>T:p.Gln627Ter	coding	Pathogenic
22	40266269	G	A	G40266269A	TNRC6B	NM_001162501.2(TNRC6B):c.2039G>A:p.Trp680Ter	coding	Pathogenic
22	40266270	G	A	G40266270A	TNRC6B	NM_001162501.2(TNRC6B):c.2040G>A:p.Trp680Ter	coding	Pathogenic
22	40278049	G	C	G40278049C	TNRC6B	NM_001162501.2(TNRC6B):c.3262+5G>C	noncoding	Pathogenic
22	40285784	C	T	C40285784T	TNRC6B	NM_001162501.2(TNRC6B):c.3708+14C>T	noncoding	Benign
22	40301180	C	T	C40301180T	TNRC6B	NM_001162501.2(TNRC6B):c.3967C>T:p.Gln1323Ter	coding	Pathogenic
22	40301283	T	A	T40301283A	TNRC6B	NM_001162501.2(TNRC6B):c.4070T>A:p.Val1357Glu	coding	Pathogenic
22	40316014	T	A	T40316014A	TNRC6B	NM_001162501.2(TNRC6B):c.4974+2T>A	noncoding	Pathogenic
22	40345817	G	C	G40345817C	ADSL	NC_000022.10:g.40741821G>C	noncoding	Benign
22	40345889	C	T	C40345889T	ADSL	NC_000022.10:g.40741893C>T	noncoding	Benign
22	40345988	G	C	G40345988C	ADSL	NC_000022.10:g.40741992G>C	noncoding	Benign
22	40346058	C	T	C40346058T	ADSL	NC_000022.10:g.40742062C>T	noncoding	Benign
22	40346536	C	T	C40346536T	ADSL	NM_000026.4(ADSL):c.-23C>T	noncoding	Benign
22	40346629	C	T	C40346629T	ADSL	NM_000026.4(ADSL):c.71C>T:p.Pro24Leu	coding	Pathogenic
22	40346709	C	T	C40346709T	ADSL	NM_000026.4(ADSL):c.151C>T:p.Gln51Ter	coding	Pathogenic
22	40354147	C	T	C40354147T	ADSL	NM_000026.4(ADSL):c.403-101C>T	noncoding	Benign
22	40354266	C	T	C40354266T	ADSL	NM_000026.4(ADSL):c.421C>T:p.Arg141Trp	coding	Pathogenic/Likely_pathogenic
22	40359009	C	T	C40359009T	ADSL	NM_000026.4(ADSL):c.628C>T:p.Gln210Ter	coding	Pathogenic
22	40359419	A	G	A40359419G	ADSL	NM_000026.4(ADSL):c.701+113A>G	noncoding	Benign
22	40360433	C	T	C40360433T	ADSL	NM_000026.4(ADSL):c.733C>T:p.Arg245Ter	coding	Pathogenic
22	40360640	A	C	A40360640C	ADSL	NM_000026.4(ADSL):c.792+148A>C	noncoding	Benign
22	40361282	G	A	G40361282A	ADSL	NM_000026.4(ADSL):c.802G>A:p.Asp268Asn	coding	Pathogenic
22	40361309	G	T	G40361309T	ADSL	NM_000026.4(ADSL):c.829G>T:p.Glu277Ter	coding	Pathogenic
22	40361505	T	C	T40361505C	ADSL	NM_000026.4(ADSL):c.880T>C:p.Tyr294His	coding	Benign
22	40364370	G	C	G40364370C	ADSL	NM_000026.4(ADSL):c.1191+5G>C	noncoding	Pathogenic
22	40364821	T	G	T40364821G	ADSL	NM_000026.4(ADSL):c.1192-59T>G	noncoding	Benign
22	40364910	C	T	C40364910T	ADSL	NM_000026.4(ADSL):c.1222C>T:p.Gln408Ter	coding	Pathogenic
22	40365030	T	C	T40365030C	ADSL	NM_000026.4(ADSL):c.1342T>C:p.Ser448Pro	coding	Pathogenic/Likely_pathogenic
22	40407182	G	T	G40407182T	SGSM3	NM_015705.6(SGSM3):c.1241-19G>T	noncoding	Benign
22	40411594	C	T	C40411594T	MRTFA	NM_020831.6(MRTFA):c.2892G>A:p.Ser964=	coding	Benign
22	40417330	G	A	G40417330A	MRTFA	NM_020831.6(MRTFA):c.2517+11C>T	noncoding	Benign
22	40418493	G	T	G40418493T	MRTFA	NM_020831.6(MRTFA):c.2245C>A:p.Leu749Ile	coding	Benign
22	40418496	T	C	T40418496C	MRTFA	NM_020831.6(MRTFA):c.2242A>G:p.Ser748Gly	coding	Benign
22	40418590	C	T	C40418590T	MRTFA	NM_020831.6(MRTFA):c.2148G>A:p.Pro716=	coding	Benign
22	40418632	C	T	C40418632T	MRTFA	NM_020831.6(MRTFA):c.2106G>A:p.Ala702=	coding	Benign
22	40418659	G	A	G40418659A	MRTFA	NM_020831.6(MRTFA):c.2079C>T:p.Pro693=	coding	Benign
22	40418733	C	T	C40418733T	MRTFA	NM_020831.6(MRTFA):c.2005G>A:p.Ala669Thr	coding	Benign
22	40418734	G	C	G40418734C	MRTFA	NM_020831.6(MRTFA):c.2004C>G:p.Pro668=	coding	Benign/Likely_benign
22	40418739	C	T	C40418739T	MRTFA	NM_020831.6(MRTFA):c.1999G>A:p.Ala667Thr	coding	Benign
22	40418745	C	T	C40418745T	MRTFA	NM_020831.6(MRTFA):c.1993G>A:p.Ala665Thr	coding	Benign/Likely_benign
22	40419035	T	C	T40419035C	MRTFA	NM_020831.6(MRTFA):c.1703A>G:p.Glu568Gly	coding	Benign
22	40419085	G	C	G40419085C	MRTFA	NM_020831.6(MRTFA):c.1653C>G:p.Pro551=	coding	Benign
22	40419252	C	T	C40419252T	MRTFA	NM_020831.6(MRTFA):c.1486G>A:p.Ala496Thr	coding	Benign
22	40420426	C	T	C40420426T	MRTFA	NM_020831.6(MRTFA):c.1332G>A:p.Pro444=	coding	Benign/Likely_benign
22	40420837	G	A	G40420837A	MRTFA	NM_020831.6(MRTFA):c.1181+10C>T	noncoding	Benign
22	40424199	C	A	C40424199A	MRTFA	NM_020831.6(MRTFA):c.777+7G>T	noncoding	Benign
22	40424209	G	C	G40424209C	MRTFA	NM_020831.6(MRTFA):c.774C>G:p.Thr258=	coding	Benign
22	40424269	C	T	C40424269T	MRTFA	NM_020831.6(MRTFA):c.714G>A:p.Pro238=	coding	Benign
22	40435538	G	A	G40435538A	MRTFA	NM_020831.6(MRTFA):c.324C>T:p.Ala108=	coding	Benign
22	40480230	T	C	T40480230C	MRTFA	NM_020831.6(MRTFA):c.242-16944A>G	noncoding	Benign
22	40680966	G	A	G40680966A	MCHR1	NM_005297.4(MCHR1):c.100G>A:p.Gly34Arg	coding	Benign/Likely_benign
22	40869019	C	T	C40869019T	XPNPEP3	NM_022098.4(XPNPEP3):c.85C>T:p.Arg29Ter	coding	Pathogenic
22	40869139	C	T	C40869139T	XPNPEP3	NM_022098.4(XPNPEP3):c.181+24C>T	noncoding	Benign
22	40882243	A	C	A40882243C	XPNPEP3	NM_022098.4(XPNPEP3):c.589+66A>C	noncoding	Benign
22	40882322	C	T	C40882322T	XPNPEP3	NM_022098.4(XPNPEP3):c.589+145C>T	noncoding	Benign
22	40914199	C	G	C40914199G	XPNPEP3	NM_022098.4(XPNPEP3):c.970-40C>G	noncoding	Benign
22	40914309	G	A	G40914309A	XPNPEP3	NM_022098.4(XPNPEP3):c.1040G>A:p.Trp347Ter	coding	Pathogenic
22	40924142	G	A	G40924142A	XPNPEP3	NM_022098.4(XPNPEP3):c.1237-220G>A	noncoding	Benign
22	41092522	C	T	C41092522T	EP300	NR_031694.1(MIR1281):n.10C>T	noncoding	Benign
22	41093111	A	G	A41093111G	EP300	NM_001429.4(EP300):c.94+13A>G	noncoding	Benign
22	41093139	C	T	C41093139T	EP300	NM_001429.4(EP300):c.94+41C>T	noncoding	Benign
22	41093206	C	A	C41093206A	EP300	NM_001429.4(EP300):c.94+108C>A	noncoding	Benign
22	41093358	G	C	G41093358C	EP300	NM_001429.4(EP300):c.94+260G>C	noncoding	Benign
22	41117090	G	T	G41117090T	EP300	NM_001429.4(EP300):c.95-97G>T	noncoding	Benign
22	41117408	A	G	A41117408G	EP300	NM_001429.4(EP300):c.316A>G:p.Ser106Gly	coding	Benign/Likely_benign
22	41117671	C	T	C41117671T	EP300	NM_001429.4(EP300):c.579C>T:p.Asn193=	coding	Benign
22	41125553	G	A	G41125553A	EP300	NM_001429.4(EP300):c.730-311G>A	noncoding	Benign
22	41125713	T	C	T41125713C	EP300	NM_001429.4(EP300):c.730-151T>C	noncoding	Benign
22	41125751	C	G	C41125751G	EP300	NM_001429.4(EP300):c.730-113C>G	noncoding	Benign
22	41125820	A	G	A41125820G	EP300	NM_001429.4(EP300):c.730-44A>G	noncoding	Benign
22	41126139	A	G	A41126139G	EP300	NM_001429.4(EP300):c.906+99A>G	noncoding	Benign
22	41126227	A	G	A41126227G	EP300	NM_001429.4(EP300):c.906+187A>G	noncoding	Benign
22	41127477	T	C	T41127477C	EP300	NM_001429.4(EP300):c.907-10T>C	noncoding	Benign/Likely_benign
22	41127768	T	C	T41127768C	EP300	NM_001429.4(EP300):c.1168+20T>C	noncoding	Benign
22	41130243	C	A	C41130243A	EP300	NM_001429.4(EP300):c.1282+240C>A	noncoding	Benign
22	41131372	C	T	C41131372T	EP300	NM_001429.4(EP300):c.1283-16C>T	noncoding	Benign
22	41131446	A	G	A41131446G	EP300	NM_001429.4(EP300):c.1341A>G:p.Gln447=	coding	Benign
22	41131548	G	A	G41131548A	EP300	NM_001429.4(EP300):c.1443G>A:p.Pro481=	coding	Benign
22	41131699	T	C	T41131699C	EP300	NM_001429.4(EP300):c.1528+66T>C	noncoding	Benign
22	41137633	T	C	T41137633C	EP300	NM_001429.4(EP300):c.1623-20T>C	noncoding	Benign/Likely_benign
22	41140106	A	T	A41140106T	EP300	NM_001429.4(EP300):c.1761-34A>T	noncoding	Benign
22	41140316	T	C	T41140316C	EP300	NM_001429.4(EP300):c.1878+59T>C	noncoding	Benign
22	41140343	A	T	A41140343T	EP300	NM_001429.4(EP300):c.1878+86A>T	noncoding	Benign
22	41140898	A	G	A41140898G	EP300	NM_001429.4(EP300):c.1879-150A>G	noncoding	Benign
22	41141264	A	G	A41141264G	EP300	NM_001429.4(EP300):c.2053+42A>G	noncoding	Benign
22	41146736	T	C	T41146736C	EP300	NM_001429.4(EP300):c.2054-3T>C	noncoding	Benign/Likely_benign
22	41146795	C	T	C41146795T	EP300	NM_001429.4(EP300):c.2110C>T:p.Pro704Ser	coding	Benign/Likely_benign
22	41146833	A	T	A41146833T	EP300	NM_001429.4(EP300):c.2131+17A>T	noncoding	Benign/Likely_benign
22	41146861	G	A	G41146861A	EP300	NM_001429.4(EP300):c.2131+45G>A	noncoding	Benign
22	41147509	G	T	G41147509T	EP300	NM_001429.4(EP300):c.2132-328G>T	noncoding	Benign
22	41147581	A	T	A41147581T	EP300	NM_001429.4(EP300):c.2132-256A>T	noncoding	Benign
22	41147979	C	G	C41147979G	EP300	NM_001429.4(EP300):c.2241+33C>G	noncoding	Benign
22	41148163	C	T	C41148163T	EP300	NM_001429.4(EP300):c.2241+217C>T	noncoding	Benign
22	41148955	G	A	G41148955A	EP300	NM_001429.4(EP300):c.2242-83G>A	noncoding	Benign
22	41149101	C	T	C41149101T	EP300	NM_001429.4(EP300):c.2305C>T:p.Gln769Ter	coding	Pathogenic
22	41149144	C	T	C41149144T	EP300	NM_001429.4(EP300):c.2348C>T:p.Ala783Val	coding	Benign/Likely_benign
22	41149155	G	A	G41149155A	EP300	NM_001429.4(EP300):c.2359G>A:p.Gly787Ser	coding	Benign/Likely_benign
22	41149288	T	A	T41149288A	EP300	NM_001429.4(EP300):c.2379+113T>A	noncoding	Benign
22	41149289	A	T	A41149289T	EP300	NM_001429.4(EP300):c.2379+114A>T	noncoding	Benign
22	41149607	G	C	G41149607C	EP300	NM_001429.4(EP300):c.2380-154G>C	noncoding	Benign
22	41149619	G	A	G41149619A	EP300	NM_001429.4(EP300):c.2380-142G>A	noncoding	Benign
22	41149743	T	C	T41149743C	EP300	NM_001429.4(EP300):c.2380-18T>C	noncoding	Benign
22	41149975	C	T	C41149975T	EP300	NM_001429.4(EP300):c.2594C>T:p.Thr865Ile	coding	Benign
22	41149990	C	T	C41149990T	EP300	NM_001429.4(EP300):c.2609C>T:p.Pro870Leu	coding	Benign/Likely_benign
22	41150026	C	G	C41150026G	EP300	NM_001429.4(EP300):c.2645C>G:p.Pro882Arg	coding	Benign
22	41150037	C	T	C41150037T	EP300	NM_001429.4(EP300):c.2656C>T:p.Pro886Ser	coding	Benign/Likely_benign
22	41150041	C	T	C41150041T	EP300	NM_001429.4(EP300):c.2660C>T:p.Thr887Ile	coding	Pathogenic/Likely_pathogenic
22	41150115	C	T	C41150115T	EP300	NM_001429.4(EP300):c.2734C>T:p.Gln912Ter	coding	Pathogenic
22	41150372	T	G	T41150372G	EP300	NM_001429.4(EP300):c.2817+174T>G	noncoding	Benign
22	41152024	G	A	G41152024A	EP300	NM_001429.4(EP300):c.2997+12G>A	noncoding	Benign
22	41152371	G	A	G41152371A	EP300	NM_001429.4(EP300):c.3142+21G>A	noncoding	Benign
22	41154950	C	T	C41154950T	EP300	NM_001429.4(EP300):c.3143-45C>T	noncoding	Benign
22	41155014	A	G	A41155014G	EP300	NM_001429.4(EP300):c.3162A>G:p.Leu1054=	coding	Benign
22	41155285	G	A	G41155285A	EP300	NM_001429.4(EP300):c.3261+172G>A	noncoding	Benign
22	41156922	T	G	T41156922G	EP300	NM_001429.4(EP300):c.3262-247T>G	noncoding	Benign
22	41157451	A	G	A41157451G	EP300	NM_001429.4(EP300):c.3501+43A>G	noncoding	Benign
22	41157678	T	C	T41157678C	EP300	NM_001429.4(EP300):c.3501+270T>C	noncoding	Benign
22	41158399	G	A	G41158399A	EP300	NM_001429.4(EP300):c.3502-13G>A	noncoding	Benign
22	41158403	C	A	C41158403A	EP300	NM_001429.4(EP300):c.3502-9C>A	noncoding	Benign/Likely_benign
22	41158686	C	T	C41158686T	EP300	NM_001429.4(EP300):c.3590+186C>T	noncoding	Benign
22	41160592	G	A	G41160592A	EP300	NM_001429.4(EP300):c.3591-50G>A	noncoding	Benign
22	41160675	C	A	C41160675A	EP300	NM_001429.4(EP300):c.3624C>A:p.Ile1208=	coding	Benign/Likely_benign
22	41160723	G	A	G41160723A	EP300	NM_001429.4(EP300):c.3671+1G>A	coding	Pathogenic
22	41162432	A	G	A41162432G	EP300	NM_001429.4(EP300):c.3672-291A>G	noncoding	Benign
22	41162527	T	C	T41162527C	EP300	NM_001429.4(EP300):c.3672-196T>C	noncoding	Benign
22	41162736	G	T	G41162736T	EP300	NM_001429.4(EP300):c.3685G>T:p.Glu1229Ter	coding	Pathogenic
22	41162991	T	G	T41162991G	EP300	NM_001429.4(EP300):c.3728+212T>G	noncoding	Benign
22	41164064	G	A	G41164064A	EP300	NM_001429.4(EP300):c.3740G>A:p.Cys1247Tyr	coding	Pathogenic
22	41164074	C	T	C41164074T	EP300	NM_001429.4(EP300):c.3750C>T:p.Cys1250=	coding	Benign
22	41168283	T	C	T41168283C	EP300	NM_001429.4(EP300):c.3875-166T>C	noncoding	Benign
22	41168447	A	C	A41168447C	EP300	NM_001429.4(EP300):c.3875-2A>C	noncoding	Pathogenic
22	41168570	C	T	C41168570T	EP300	NM_001429.4(EP300):c.3996C>T:p.Thr1332=	coding	Benign
22	41169464	A	C	A41169464C	EP300	NM_001429.4(EP300):c.4173-39A>C	noncoding	Benign
22	41169638	C	T	C41169638T	EP300	NM_001429.4(EP300):c.4286+22C>T	noncoding	Benign
22	41169639	T	C	T41169639C	EP300	NM_001429.4(EP300):c.4286+23T>C	noncoding	Benign
22	41169645	T	C	T41169645C	EP300	NM_001429.4(EP300):c.4286+29T>C	noncoding	Benign
22	41169649	T	C	T41169649C	EP300	NM_001429.4(EP300):c.4286+33T>C	noncoding	Benign
22	41169823	A	G	A41169823G	EP300	NM_001429.4(EP300):c.4286+207A>G	noncoding	Benign
22	41170356	T	G	T41170356G	EP300	NM_001429.4(EP300):c.4287-50T>G	noncoding	Benign
22	41170420	A	T	A41170420T	EP300	NM_001429.4(EP300):c.4301A>T:p.His1434Leu	coding	Pathogenic
22	41170426	G	A	G41170426A	EP300	NM_001429.4(EP300):c.4307G>A:p.Trp1436Ter	coding	Pathogenic
22	41170724	C	T	C41170724T	EP300	NM_001429.4(EP300):c.4452+153C>T	noncoding	Benign
22	41170819	A	G	A41170819G	EP300	NM_001429.4(EP300):c.4452+248A>G	noncoding	Benign
22	41172181	G	A	G41172181A	EP300	NM_001429.4(EP300):c.4453-318G>A	noncoding	Benign
22	41172476	T	C	T41172476C	EP300	NM_001429.4(EP300):c.4453-23T>C	noncoding	Benign
22	41173572	A	G	A41173572G	EP300	NM_001429.4(EP300):c.4618-51A>G	noncoding	Benign
22	41173757	A	G	A41173757G	EP300	NM_001429.4(EP300):c.4752A>G:p.Leu1584=	coding	Benign/Likely_benign
22	41173802	A	G	A41173802G	EP300	NM_001429.4(EP300):c.4779+18A>G	noncoding	Benign/Likely_benign
22	41176206	C	T	C41176206T	EP300	NM_001429.4(EP300):c.4780-41C>T	noncoding	Benign
22	41176265	C	G	C41176265G	EP300	NM_001429.4(EP300):c.4798C>G:p.Leu1600Val	coding	Benign
22	41176562	C	G	C41176562G	EP300	NM_001429.4(EP300):c.5061+34C>G	noncoding	Benign
22	41176564	C	T	C41176564T	EP300	NM_001429.4(EP300):c.5061+36C>T	noncoding	Benign
22	41176565	C	T	C41176565T	EP300	NM_001429.4(EP300):c.5061+37C>T	noncoding	Benign
22	41176578	T	C	T41176578C	EP300	NM_001429.4(EP300):c.5061+50T>C	noncoding	Benign
22	41177075	C	T	C41177075T	EP300	NM_001429.4(EP300):c.5364C>T:p.Leu1788=	coding	Benign
22	41177172	C	A	C41177172A	EP300	NM_001429.4(EP300):c.5461C>A:p.Arg1821=	coding	Benign
22	41177315	G	A	G41177315A	EP300	NM_001429.4(EP300):c.5604G>A:p.Thr1868=	coding	Benign/Likely_benign
22	41177344	C	A	C41177344A	EP300	NM_001429.4(EP300):c.5633C>A:p.Thr1878Asn	coding	Benign
22	41177380	C	G	C41177380G	EP300	NM_001429.4(EP300):c.5669C>G:p.Thr1890Ser	coding	Benign/Likely_benign
22	41177543	C	G	C41177543G	EP300	NM_001429.4(EP300):c.5832C>G:p.His1944Gln	coding	Benign
22	41178101	G	A	G41178101A	EP300	NM_001429.4(EP300):c.6390G>A:p.Met2130Ile	coding	Benign/Likely_benign
22	41178128	C	T	C41178128T	EP300	NM_001429.4(EP300):c.6417C>T:p.Gly2139=	coding	Benign/Likely_benign
22	41178623	C	T	C41178623T	EP300	NM_001429.4(EP300):c.6912C>T:p.Ser2304=	coding	Benign/Likely_benign
22	41178645	C	T	C41178645T	EP300	NM_001429.4(EP300):c.6934C>T:p.Pro2312Ser	coding	Benign
22	41178792	C	T	C41178792T	EP300	NM_001429.4(EP300):c.7081C>T:p.Gln2361Ter	coding	Pathogenic
22	41178980	G	A	G41178980A	EP300	NM_001429.4(EP300):c.*24G>A	noncoding	Benign
22	41179093	C	T	C41179093T	EP300	NM_001429.4(EP300):c.*137C>T	noncoding	Benign
22	41469330	G	A	G41469330A	ACO2	NM_001098.3(ACO2):c.36+148G>A	noncoding	Benign
22	41499405	G	A	G41499405A	ACO2	NM_001098.3(ACO2):c.37-321G>A	noncoding	Benign
22	41499861	C	T	C41499861T	ACO2	NM_001098.3(ACO2):c.172C>T:p.Arg58Ter	coding	Pathogenic
22	41507739	G	T	G41507739T	ACO2	NM_001098.3(ACO2):c.174-52G>T	noncoding	Benign
22	41511942	A	T	A41511942T	ACO2	NM_001098.3(ACO2):c.499A>T:p.Lys167Ter	coding	Pathogenic
22	41517409	C	T	C41517409T	ACO2	NM_001098.3(ACO2):c.836-118C>T	noncoding	Benign
22	41517473	T	C	T41517473C	ACO2	NM_001098.3(ACO2):c.836-54T>C	noncoding	Benign
22	41517636	G	C	G41517636C	ACO2	NM_001098.3(ACO2):c.940+5G>C	noncoding	Pathogenic
22	41518542	T	A	T41518542A	ACO2	NM_001098.3(ACO2):c.1002T>A:p.Tyr334Ter	coding	Pathogenic
22	41520187	A	G	A41520187G	ACO2	NM_001098.3(ACO2):c.1049A>G:p.Asn350Ser	coding	Benign
22	41520229	T	C	T41520229C	ACO2	NM_001098.3(ACO2):c.1091T>C:p.Val364Ala	coding	Pathogenic
22	41520257	G	A	G41520257A	ACO2	NM_001098.3(ACO2):c.1119G>A:p.Trp373Ter	coding	Pathogenic
22	41520270	C	T	C41520270T	ACO2	NM_001098.3(ACO2):c.1132C>T:p.Arg378Ter	coding	Pathogenic
22	41523005	C	T	C41523005T	ACO2	NM_001098.3(ACO2):c.1296+18C>T	noncoding	Benign
22	41523326	A	G	A41523326G	ACO2	NM_001098.3(ACO2):c.1370+48A>G	noncoding	Benign
22	41523849	G	T	G41523849T	ACO2	NM_001098.3(ACO2):c.1390G>T:p.Glu464Ter	coding	Pathogenic/Likely_pathogenic
22	41523875	C	G	C41523875G	ACO2	NM_001098.3(ACO2):c.1416C>G:p.Tyr472Ter	coding	Pathogenic
22	41523957	T	C	T41523957C	ACO2	NM_001098.3(ACO2):c.1482+16T>C	noncoding	Benign
22	41524870	G	T	G41524870T	ACO2	NM_001098.3(ACO2):c.1507G>T:p.Gly503Ter	coding	Pathogenic
22	41525087	G	A	G41525087A	ACO2	NM_001098.3(ACO2):c.1606-106G>A	noncoding	Benign
22	41525243	C	T	C41525243T	ACO2	NM_001098.3(ACO2):c.1656C>T:p.Ser552=	coding	Benign
22	41526276	T	A	T41526276A	ACO2	NM_001098.3(ACO2):c.1776T>A:p.Cys592Ter	coding	Pathogenic
22	41526394	G	A	G41526394A	ACO2	NM_001098.3(ACO2):c.1894G>A:p.Val632Met	coding	Pathogenic
22	41526469	T	C	T41526469C	ACO2	NM_001098.3(ACO2):c.1953+16T>C	coding	Benign/Likely_benign
22	41527305	G	A	G41527305A	ACO2	NM_001098.3(ACO2):c.1971G>A:p.Trp657Ter	coding	Pathogenic
22	41527888	G	A	G41527888A	ACO2	NM_001018050.4(POLR3H):c.*1395C>T	coding	Benign/Likely_benign
22	41527949	C	T	C41527949T	ACO2	NM_001098.3(ACO2):c.2135C>T:p.Pro712Leu	coding	Pathogenic/Likely_pathogenic
22	41528228	A	G	A41528228G	ACO2	NM_001098.3(ACO2):c.2208+206A>G	coding	Benign
22	41533171	T	G	T41533171G	POLR3H	NM_001018050.4(POLR3H):c.209-426A>C	noncoding	Benign
22	41621350	G	A	G41621350A	XRCC6	NM_001469.5(XRCC6):c.-16+5G>A	noncoding	Benign
22	41833036	A	G	A41833036G	SREBF2	NR_157279.2(SREBF2-AS1):n.1168T>C	noncoding	Benign
22	41833088	G	C	G41833088C	SREBF2	NR_157279.2(SREBF2-AS1):n.1116C>G	noncoding	Benign
22	41871192	C	T	C41871192T	SREBF2	NM_004599.4(SREBF2):c.867+157C>T	noncoding	Benign
22	41873624	C	T	C41873624T	SREBF2	NM_004599.4(SREBF2):c.868-174C>T	noncoding	Benign
22	41877458	G	A	G41877458A	SREBF2	NM_004599.4(SREBF2):c.1579+37G>A	noncoding	Benign
22	41877838	A	G	A41877838G	SREBF2	NM_004599.4(SREBF2):c.1580-104A>G	noncoding	Benign
22	41878030	G	T	G41878030T	SREBF2	NM_004599.4(SREBF2):c.1668G>T:p.Leu556=	coding	Benign
22	41878283	G	A	G41878283A	SREBF2	NM_004599.4(SREBF2):c.1761+160G>A	noncoding	Benign
22	41880738	G	C	G41880738C	SREBF2	NM_004599.4(SREBF2):c.1784G>C:p.Gly595Ala	coding	Benign
22	41884885	G	A	G41884885A	SREBF2	NM_004599.4(SREBF2):c.2082G>A:p.Ala694=	coding	Benign
22	41885145	T	G	T41885145G	SREBF2	NM_004599.4(SREBF2):c.2208+134T>G	noncoding	Benign
22	41892990	T	G	T41892990G	SREBF2	NM_004599.4(SREBF2):c.2209-127T>G	noncoding	Benign
22	41893313	T	C	T41893313C	SREBF2	NM_004599.4(SREBF2):c.2377+28T>C	noncoding	Benign
22	41893462	T	C	T41893462C	SREBF2	NM_004599.4(SREBF2):c.2377+177T>C	noncoding	Benign
22	41893496	G	A	G41893496A	SREBF2	NM_004599.4(SREBF2):c.2377+211G>A	noncoding	Benign
22	41895118	C	G	C41895118G	SREBF2	NM_004599.4(SREBF2):c.2495+181C>G	noncoding	Benign
22	41896881	C	T	C41896881T	SREBF2	NM_004599.4(SREBF2):c.2496-171C>T	noncoding	Benign
22	41896919	G	A	G41896919A	SREBF2	NM_004599.4(SREBF2):c.2496-133G>A	noncoding	Benign
22	41897136	G	C	G41897136C	SREBF2	NM_004599.4(SREBF2):c.2580G>C:p.Arg860Ser	coding	Benign
22	41897274	A	G	A41897274G	SREBF2	NM_004599.4(SREBF2):c.2605+113A>G	noncoding	Benign
22	41900138	G	A	G41900138A	SREBF2	NM_004599.4(SREBF2):c.2739-192G>A	noncoding	Benign
22	41900175	G	C	G41900175C	SREBF2	NM_004599.4(SREBF2):c.2739-155G>C	noncoding	Benign
22	41900699	T	C	T41900699C	SREBF2	NM_004599.4(SREBF2):c.2907+201T>C	noncoding	Benign
22	41904944	C	A	C41904944A	SREBF2	NM_004599.4(SREBF2):c.3175C>A:p.Arg1059=	coding	Benign
22	41905010	A	G	A41905010G	SREBF2	NM_004599.4(SREBF2):c.3205+36A>G	noncoding	Benign
22	41905129	T	C	T41905129C	SREBF2	NM_004599.4(SREBF2):c.3205+155T>C	noncoding	Benign
22	41905430	C	T	C41905430T	SREBF2	NM_004599.4(SREBF2):c.3206-10C>T	noncoding	Benign
22	41905708	T	C	T41905708C	SREBF2	NM_004599.4(SREBF2):c.*48T>C	noncoding	Benign
22	41905744	A	G	A41905744G	SREBF2	NM_004599.4(SREBF2):c.*84A>G	noncoding	Benign
22	41925567	G	A	G41925567A	TNFRSF13C	NM_052945.4(TNFRSF13C):c.368-13C>T	noncoding	Benign
22	41925567	G	C	G41925567C	TNFRSF13C	NM_052945.4(TNFRSF13C):c.368-13C>G	noncoding	Benign/Likely_benign
22	41925587	A	G	A41925587G	TNFRSF13C	NM_052945.4(TNFRSF13C):c.368-33T>C	noncoding	Benign
22	41925753	G	C	G41925753C	TNFRSF13C	NM_052945.4(TNFRSF13C):c.368-199C>G	noncoding	Benign
22	41926012	C	G	C41926012G	TNFRSF13C	NM_052945.4(TNFRSF13C):c.367+89G>C	noncoding	Benign
22	41926083	C	T	C41926083T	TNFRSF13C	NM_052945.4(TNFRSF13C):c.367+18G>A	noncoding	Benign
22	42060457	G	T	G42060457T	NAGA	NM_000262.3(NAGA):c.1102-44C>A	noncoding	Benign
22	42060469	C	G	C42060469G	NAGA	NM_000262.3(NAGA):c.1102-56G>C	noncoding	Benign
22	42060686	G	C	G42060686C	NAGA	NM_000262.3(NAGA):c.1101+238C>G	noncoding	Benign
22	42060870	C	G	C42060870G	NAGA	NM_000262.3(NAGA):c.1101+54G>C	noncoding	Benign
22	42062559	G	C	G42062559C	NAGA	NM_000262.3(NAGA):c.957+268C>G	noncoding	Benign
22	42062681	A	G	A42062681G	NAGA	NM_000262.3(NAGA):c.957+146T>C	noncoding	Benign
22	42062946	G	T	G42062946T	NAGA	NM_000262.3(NAGA):c.838C>A:p.Leu280Ile	coding	Benign
22	42063103	C	T	C42063103T	NAGA	NM_000262.3(NAGA):c.760-79G>A	noncoding	Benign
22	42065432	G	C	G42065432C	NAGA	NM_000262.3(NAGA):c.759+306C>G	noncoding	Benign
22	42065445	T	C	T42065445C	NAGA	NM_000262.3(NAGA):c.759+293A>G	noncoding	Benign
22	42066176	C	T	C42066176T	NAGA	NM_000262.3(NAGA):c.598-277G>A	noncoding	Benign
22	42086192	G	A	G42086192A	NDUFA6	NM_002490.6(NDUFA6):c.378C>T:p.His126=	coding	Benign/Likely_benign
22	42086248	G	A	G42086248A	NDUFA6	NM_002490.6(NDUFA6):c.322C>T:p.His108Tyr	coding	Benign/Likely_benign
22	42086498	C	G	C42086498G	NDUFA6	NM_002490.6(NDUFA6):c.256-184G>C	noncoding	Benign
22	42087042	T	G	T42087042G	NDUFA6	NM_002490.6(NDUFA6):c.255+18A>C	noncoding	Benign
22	42090719	G	A	G42090719A	NDUFA6	NM_002490.6(NDUFA6):c.26C>T:p.Ala9Val	coding	Benign
22	42168712	G	T	G42168712T	TCF20	NM_001378418.1(TCF20):c.5824C>A:p.Pro1942Thr	coding	Benign
22	42168744	G	A	G42168744A	TCF20	NM_001378418.1(TCF20):c.5800-8C>T	noncoding	Benign
22	42169829	T	C	T42169829C	TCF20	NM_001378418.1(TCF20):c.5799+18A>G	noncoding	Benign
22	42179713	G	A	G42179713A	TCF20	NM_001378418.1(TCF20):c.5656-11C>T	noncoding	Benign
22	42209723	C	T	C42209723T	TCF20	NM_001378418.1(TCF20):c.5583G>A:p.Trp1861Ter	coding	Pathogenic/Likely_pathogenic
22	42209747	C	T	C42209747T	TCF20	NM_001378418.1(TCF20):c.5559G>A:p.Trp1853Ter	coding	Pathogenic
22	42210251	C	T	C42210251T	TCF20	NM_001378418.1(TCF20):c.5055G>A:p.Ser1685=	coding	Benign
22	42210491	C	T	C42210491T	TCF20	NM_001378418.1(TCF20):c.4815G>A:p.Val1605=	coding	Benign
22	42210986	G	A	G42210986A	TCF20	NM_001378418.1(TCF20):c.4320C>T:p.Ser1440=	coding	Benign
22	42211065	G	A	G42211065A	TCF20	NM_001378418.1(TCF20):c.4241C>T:p.Ser1414Leu	coding	Benign
22	42212187	G	C	G42212187C	TCF20	NM_001378418.1(TCF20):c.3119C>G:p.Ser1040Ter	coding	Pathogenic
22	42212316	C	A	C42212316A	TCF20	NM_001378418.1(TCF20):c.2990G>T:p.Gly997Val	coding	Benign
22	42212726	G	C	G42212726C	TCF20	NM_001378418.1(TCF20):c.2580C>G:p.Leu860=	coding	Benign
22	42213046	G	A	G42213046A	TCF20	NM_001378418.1(TCF20):c.2260C>T:p.Gln754Ter	coding	Pathogenic
22	42213093	C	G	C42213093G	TCF20	NM_001378418.1(TCF20):c.2213G>C:p.Gly738Ala	coding	Benign
22	42213142	T	C	T42213142C	TCF20	NM_001378418.1(TCF20):c.2164A>G:p.Ser722Gly	coding	Benign
22	42213461	A	G	A42213461G	TCF20	NM_001378418.1(TCF20):c.1845T>C:p.Gly615=	coding	Benign
22	42213866	A	C	A42213866C	TCF20	NM_001378418.1(TCF20):c.1440T>G:p.Thr480=	coding	Benign
22	42213895	G	A	G42213895A	TCF20	NM_001378418.1(TCF20):c.1411C>T:p.Gln471Ter	coding	Pathogenic
22	42214093	T	C	T42214093C	TCF20	NM_001378418.1(TCF20):c.1213A>G:p.Met405Val	coding	Benign
22	42214514	G	T	G42214514T	TCF20	NM_001378418.1(TCF20):c.792C>A:p.Tyr264Ter	coding	Pathogenic
22	42214741	G	A	G42214741A	TCF20	NM_001378418.1(TCF20):c.565C>T:p.Gln189Ter	coding	Pathogenic
22	42214787	G	A	G42214787A	TCF20	NM_001378418.1(TCF20):c.519C>T:p.Ser173=	coding	Benign
22	42214980	C	T	C42214980T	TCF20	NM_001378418.1(TCF20):c.326G>A:p.Arg109Gln	coding	Benign
22	42215109	G	A	G42215109A	TCF20	NM_001378418.1(TCF20):c.197C>T:p.Ala66Val	coding	Benign
22	42215168	G	A	G42215168A	TCF20	NM_001378418.1(TCF20):c.138C>T:p.Gly46=	coding	Benign
22	42215259	C	G	C42215259G	TCF20	NM_001378418.1(TCF20):c.47G>C:p.Ser16Thr	coding	Benign
22	42514775	C	G	C42514775G	RRP7A	NM_015703.5(RRP7A):c.465G>C:p.Trp155Cys	coding	Pathogenic
22	42619486	G	T	G42619486T	CYB5R3	NM_000398.7(CYB5R3):c.*287C>A	noncoding	Benign
22	42619710	T	C	T42619710C	CYB5R3	NM_000398.7(CYB5R3):c.*63A>G	noncoding	Benign
22	42623530	A	G	A42623530G	CYB5R3	NM_000398.7(CYB5R3):c.733+259T>C	noncoding	Benign
22	42623556	T	C	T42623556C	CYB5R3	NM_000398.7(CYB5R3):c.733+233A>G	noncoding	Benign
22	42623626	C	A	C42623626A	CYB5R3	NM_000398.7(CYB5R3):c.733+163G>T	noncoding	Benign
22	42623814	C	T	C42623814T	CYB5R3	NM_000398.7(CYB5R3):c.708G>A:p.Trp236Ter	coding	Pathogenic
22	42624161	C	T	C42624161T	CYB5R3	NM_000398.7(CYB5R3):c.634-273G>A	noncoding	Benign
22	42624163	C	T	C42624163T	CYB5R3	NM_000398.7(CYB5R3):c.634-275G>A	noncoding	Benign
22	42627521	G	A	G42627521A	CYB5R3	NM_000398.7(CYB5R3):c.547+84C>T	noncoding	Benign
22	42627529	A	G	A42627529G	CYB5R3	NM_000398.7(CYB5R3):c.547+76T>C	noncoding	Benign
22	42627933	G	T	G42627933T	CYB5R3	NM_000398.7(CYB5R3):c.463+219C>A	noncoding	Benign
22	42627974	G	A	G42627974A	CYB5R3	NM_000398.7(CYB5R3):c.463+178C>T	noncoding	Benign
22	42628139	C	T	C42628139T	CYB5R3	NM_000398.7(CYB5R3):c.463+13G>A	noncoding	Benign/Likely_benign
22	42628404	C	T	C42628404T	CYB5R3	NM_000398.7(CYB5R3):c.334-123G>A	noncoding	Benign
22	42631350	G	A	G42631350A	CYB5R3	NM_000398.7(CYB5R3):c.226+28C>T	noncoding	Benign
22	42631624	C	T	C42631624T	CYB5R3	NM_000398.7(CYB5R3):c.154-174G>A	noncoding	Benign
22	42636482	G	C	G42636482C	CYB5R3	NM_000398.7(CYB5R3):c.153+233C>G	noncoding	Benign
22	42644076	A	G	A42644076G	CYB5R3	NM_000398.7(CYB5R3):c.21+5219T>C	noncoding	Benign
22	42644297	C	A	C42644297A	CYB5R3	NM_000398.7(CYB5R3):c.21+4998G>T	noncoding	Benign
22	42644428	G	C	G42644428C	CYB5R3	NM_000398.7(CYB5R3):c.21+4867C>G	coding	Benign
22	42644468	G	A	G42644468A	CYB5R3	NM_000398.7(CYB5R3):c.21+4827C>T	coding	Benign
22	42644634	C	T	C42644634T	CYB5R3	NM_000398.7(CYB5R3):c.21+4661G>A	coding	Benign
22	42644787	G	A	G42644787A	CYB5R3	NM_000398.7(CYB5R3):c.21+4508C>T	noncoding	Benign
22	42644801	C	T	C42644801T	CYB5R3	NM_000398.7(CYB5R3):c.21+4494G>A	noncoding	Benign
22	42644833	C	T	C42644833T	CYB5R3	NM_000398.7(CYB5R3):c.21+4462G>A	noncoding	Benign
22	42644867	G	A	G42644867A	CYB5R3	NM_000398.7(CYB5R3):c.21+4428C>T	noncoding	Benign
22	42644915	C	T	C42644915T	CYB5R3	NM_000398.7(CYB5R3):c.21+4380G>A	noncoding	Benign
22	42649289	G	A	G42649289A	CYB5R3	NM_000398.7(CYB5R3):c.21+6C>T	noncoding	Benign
22	42649452	G	T	G42649452T	CYB5R3	Single_allele	noncoding	Benign
22	42649531	T	C	T42649531C	CYB5R3	Single_allele	noncoding	Benign
22	42649566	C	A	C42649566A	CYB5R3	Single_allele	noncoding	Benign
22	42649637	C	G	C42649637G	CYB5R3	Single_allele	noncoding	Benign
22	42649689	G	A	G42649689A	CYB5R3	Single_allele	noncoding	Benign
22	42649701	G	T	G42649701T	CYB5R3	Single_allele	noncoding	Benign
22	42692965	C	T	C42692965T	A4GALT	NM_017436.7(A4GALT):c.987G>A:p.Thr329=	coding	Benign
22	42693049	G	C	G42693049C	A4GALT	NM_017436.7(A4GALT):c.903C>G:p.Pro301=	coding	Benign
22	42693394	G	A	G42693394A	A4GALT	NM_017436.7(A4GALT):c.558C>T:p.Phe186=	coding	Benign
22	42693843	T	C	T42693843C	A4GALT	NM_017436.7(A4GALT):c.109A>G:p.Met37Val	coding	Benign
22	42693852	C	T	C42693852T	A4GALT	NM_017436.7(A4GALT):c.100G>A:p.Val34Ile	coding	Benign
22	43972324	A	G	A43972324G	SAMM50	NM_015380.5(SAMM50):c.411A>G:p.Gly137=	coding	Benign
22	43976189	G	A	G43976189A	SAMM50	NM_015380.5(SAMM50):c.777+6G>A	noncoding	Benign
22	45286394	G	C	G45286394C	UPK3A	NM_006953.4(UPK3A):c.208+298G>C	noncoding	Benign
22	45287094	A	G	A45287094G	UPK3A	NM_006953.4(UPK3A):c.209-78A>G	noncoding	Benign
22	45354086	G	C	G45354086C	SMC1B	NM_148674.5(SMC1B):c.3165C>G:p.Phe1055Leu	coding	Benign
22	45413743	C	A	C45413743A	RIBC2	NM_015653.5(RIBC2):c.-144C>A	noncoding	Benign
22	45502794	G	C	G45502794C	FBLN1	Single_allele	noncoding	Benign
22	45518581	G	A	G45518581A	FBLN1	NM_006486.3(FBLN1):c.80-101G>A	noncoding	Benign
22	45518661	C	T	C45518661T	FBLN1	NM_006486.3(FBLN1):c.80-21C>T	noncoding	Benign
22	45518795	T	C	T45518795C	FBLN1	NM_006486.3(FBLN1):c.185+8T>C	noncoding	Benign
22	45518812	T	G	T45518812G	FBLN1	NM_006486.3(FBLN1):c.185+25T>G	noncoding	Benign
22	45519087	A	G	A45519087G	FBLN1	NM_006486.3(FBLN1):c.185+300A>G	noncoding	Benign
22	45525479	G	A	G45525479A	FBLN1	NM_006486.3(FBLN1):c.186-64G>A	noncoding	Benign
22	45525751	C	T	C45525751T	FBLN1	NM_006486.3(FBLN1):c.321+73C>T	noncoding	Benign
22	45525987	G	C	G45525987C	FBLN1	NM_006486.3(FBLN1):c.321+309G>C	noncoding	Benign
22	45526003	C	T	C45526003T	FBLN1	NM_006486.3(FBLN1):c.321+325C>T	noncoding	Benign
22	45527540	G	A	G45527540A	FBLN1	NM_006486.3(FBLN1):c.322-307G>A	noncoding	Benign
22	45527554	C	T	C45527554T	FBLN1	NM_006486.3(FBLN1):c.322-293C>T	noncoding	Benign
22	45527745	G	C	G45527745C	FBLN1	NM_006486.3(FBLN1):c.322-102G>C	noncoding	Benign
22	45527947	A	G	A45527947G	FBLN1	NM_006486.3(FBLN1):c.422A>G:p.Gln141Arg	coding	Benign
22	45527975	C	T	C45527975T	FBLN1	NM_006486.3(FBLN1):c.450C>T:p.Thr150=	coding	Benign
22	45528214	C	T	C45528214T	FBLN1	NM_006486.3(FBLN1):c.484+205C>T	noncoding	Benign
22	45528232	T	C	T45528232C	FBLN1	NM_006486.3(FBLN1):c.484+223T>C	noncoding	Benign
22	45528293	T	C	T45528293C	FBLN1	NM_006486.3(FBLN1):c.484+284T>C	noncoding	Benign
22	45531162	G	A	G45531162A	FBLN1	NM_006486.3(FBLN1):c.485-103G>A	noncoding	Benign
22	45531165	T	C	T45531165C	FBLN1	NM_006486.3(FBLN1):c.485-100T>C	noncoding	Benign
22	45531232	A	G	A45531232G	FBLN1	NM_006486.3(FBLN1):c.485-33A>G	noncoding	Benign
22	45531340	C	G	C45531340G	FBLN1	NM_006486.3(FBLN1):c.544+16C>G	noncoding	Benign
22	45531568	G	A	G45531568A	FBLN1	NM_006486.3(FBLN1):c.544+244G>A	noncoding	Benign
22	45531583	A	C	A45531583C	FBLN1	NM_006486.3(FBLN1):c.544+259A>C	noncoding	Benign
22	45532780	T	C	T45532780C	FBLN1	NM_006486.3(FBLN1):c.545-283T>C	noncoding	Benign
22	45532782	C	T	C45532782T	FBLN1	NM_006486.3(FBLN1):c.545-281C>T	noncoding	Benign
22	45532866	A	C	A45532866C	FBLN1	NM_006486.3(FBLN1):c.545-197A>C	noncoding	Benign
22	45532871	C	G	C45532871G	FBLN1	NM_006486.3(FBLN1):c.545-192C>G	noncoding	Benign
22	45532961	G	A	G45532961A	FBLN1	NM_006486.3(FBLN1):c.545-102G>A	noncoding	Benign
22	45533310	C	T	C45533310T	FBLN1	NM_006486.3(FBLN1):c.646+146C>T	noncoding	Benign
22	45533320	T	C	T45533320C	FBLN1	NM_006486.3(FBLN1):c.646+156T>C	noncoding	Benign
22	45533468	C	T	C45533468T	FBLN1	NM_006486.3(FBLN1):c.647-293C>T	noncoding	Benign
22	45533511	G	A	G45533511A	FBLN1	NM_006486.3(FBLN1):c.647-250G>A	noncoding	Benign
22	45533547	A	C	A45533547C	FBLN1	NM_006486.3(FBLN1):c.647-214A>C	noncoding	Benign
22	45533697	T	C	T45533697C	FBLN1	NM_006486.3(FBLN1):c.647-64T>C	noncoding	Benign
22	45533734	C	T	C45533734T	FBLN1	NM_006486.3(FBLN1):c.647-27C>T	noncoding	Benign
22	45535382	C	T	C45535382T	FBLN1	NM_006486.3(FBLN1):c.922+45C>T	noncoding	Benign
22	45541181	G	A	G45541181A	FBLN1	NM_006486.3(FBLN1):c.923-48G>A	noncoding	Benign
22	45541269	C	T	C45541269T	FBLN1	NM_006486.3(FBLN1):c.963C>T:p.Ile321=	coding	Benign
22	45541498	C	T	C45541498T	FBLN1	NM_006486.3(FBLN1):c.1066+126C>T	noncoding	Benign
22	45541504	G	A	G45541504A	FBLN1	NM_006486.3(FBLN1):c.1066+132G>A	noncoding	Benign
22	45542458	A	G	A45542458G	FBLN1	NM_006486.3(FBLN1):c.1195+175A>G	noncoding	Benign
22	45546846	G	T	G45546846T	FBLN1	NM_006486.3(FBLN1):c.1322-239G>T	noncoding	Benign
22	45547323	A	G	A45547323G	FBLN1	NM_006486.3(FBLN1):c.1441+119A>G	noncoding	Benign
22	45548291	C	T	C45548291T	FBLN1	NM_006486.3(FBLN1):c.1442-322C>T	noncoding	Benign
22	45548389	C	T	C45548389T	FBLN1	NM_006486.3(FBLN1):c.1442-224C>T	noncoding	Benign
22	45549071	C	A	C45549071A	FBLN1	NM_006486.3(FBLN1):c.1573+327C>A	noncoding	Benign
22	45550734	G	C	G45550734C	FBLN1	NM_006486.3(FBLN1):c.1697+119G>C	noncoding	Benign
22	45562805	G	A	G45562805A	FBLN1	NM_006486.3(FBLN1):c.1698-11706G>A	noncoding	Benign
22	45563457	C	T	C45563457T	FBLN1	NM_006486.3(FBLN1):c.1698-11054C>T	noncoding	Benign
22	45565333	C	T	C45565333T	FBLN1	NM_006486.3(FBLN1):c.1698-9178C>T	coding	Benign
22	45576671	A	G	A45576671G	FBLN1	NM_006486.3(FBLN1):c.1841-306A>G	noncoding	Benign
22	45576730	G	A	G45576730A	FBLN1	NM_006486.3(FBLN1):c.1841-247G>A	noncoding	Benign
22	45577061	G	T	G45577061T	FBLN1	NM_006486.3(FBLN1):c.1925G>T:p.Arg642Leu	coding	Benign/Likely_benign
22	45599988	C	G	C45599988G	FBLN1	NM_006486.3(FBLN1):c.1973-319C>G	noncoding	Benign
22	45600086	T	C	T45600086C	FBLN1	NM_006486.3(FBLN1):c.1973-221T>C	noncoding	Benign
22	45600229	C	T	C45600229T	FBLN1	NM_006486.3(FBLN1):c.1973-78C>T	noncoding	Benign
22	45600230	A	G	A45600230G	FBLN1	NM_006486.3(FBLN1):c.1973-77A>G	noncoding	Benign
22	45600302	C	T	C45600302T	FBLN1	NM_006486.3(FBLN1):c.1973-5C>T	noncoding	Benign
22	45600359	G	A	G45600359A	FBLN1	NM_006486.3(FBLN1):c.2025G>A:p.Lys675=	coding	Benign
22	45600413	C	T	C45600413T	FBLN1	NM_006486.3(FBLN1):c.2079C>T:p.Asn693=	coding	Benign
22	45671813	C	T	C45671813T	ATXN10	Single_allele	noncoding	Benign
22	45672264	G	A	G45672264A	ATXN10	NM_013236.4(ATXN10):c.116+85G>A	noncoding	Benign
22	45700063	T	C	T45700063C	ATXN10	NM_013236.4(ATXN10):c.392-219T>C	noncoding	Benign
22	45700117	A	G	A45700117G	ATXN10	NM_013236.4(ATXN10):c.392-165A>G	noncoding	Benign
22	45718267	C	T	C45718267T	ATXN10	NM_013236.4(ATXN10):c.648-146C>T	noncoding	Benign
22	45718364	C	T	C45718364T	ATXN10	NM_013236.4(ATXN10):c.648-49C>T	noncoding	Benign
22	45718518	G	T	G45718518T	ATXN10	NM_013236.4(ATXN10):c.728+25G>T	noncoding	Benign
22	45739053	G	A	G45739053A	ATXN10	NM_013236.4(ATXN10):c.1003+214G>A	noncoding	Benign
22	45740719	C	T	C45740719T	ATXN10	NM_013236.4(ATXN10):c.1173+181C>T	noncoding	Benign
22	45740729	C	T	C45740729T	ATXN10	NM_013236.4(ATXN10):c.1173+191C>T	noncoding	Benign
22	45740739	C	T	C45740739T	ATXN10	NM_013236.4(ATXN10):c.1173+201C>T	noncoding	Benign
22	45807045	A	G	A45807045G	ATXN10	NM_013236.4(ATXN10):c.1237+23A>G	noncoding	Benign
22	45931106	C	T	C45931106T	WNT7B	NM_058238.3(WNT7B):c.562G>A:p.Gly188Ser	coding	Pathogenic
22	45949993	G	C	G45949993C	WNT7B	NM_058238.3(WNT7B):c.225C>G:p.Tyr75Ter	coding	Pathogenic
22	46335768	C	T	C46335768T	TRMU	NM_018006.5(TRMU):c.4C>T:p.Gln2Ter	coding	Pathogenic
22	46335874	G	C	G46335874C	TRMU	NM_018006.5(TRMU):c.82+28G>C	noncoding	Benign
22	46335894	G	A	G46335894A	TRMU	NM_018006.5(TRMU):c.82+48G>A	noncoding	Benign
22	46335976	T	C	T46335976C	TRMU	NM_018006.5(TRMU):c.82+130T>C	noncoding	Benign
22	46336077	C	T	C46336077T	TRMU	NM_018006.5(TRMU):c.82+231C>T	noncoding	Benign
22	46337783	C	G	C46337783G	TRMU	NM_018006.5(TRMU):c.87C>G:p.Tyr29Ter	coding	Pathogenic
22	46338137	A	T	A46338137T	TRMU	NM_018006.5(TRMU):c.248+193A>T	noncoding	Benign
22	46343243	T	A	T46343243A	TRMU	NM_018006.5(TRMU):c.249-19T>A	noncoding	Benign
22	46346260	G	C	G46346260C	TRMU	NM_018006.5(TRMU):c.356-162G>C	noncoding	Benign
22	46346589	T	G	T46346589G	TRMU	NM_018006.5(TRMU):c.478+45T>G	noncoding	Benign
22	46350522	C	A	C46350522A	TRMU	NM_018006.5(TRMU):c.651+59C>A	noncoding	Benign
22	46352172	C	T	C46352172T	TRMU	NM_018006.5(TRMU):c.703C>T:p.Gln235Ter	coding	Pathogenic
22	46352240	G	A	G46352240A	TRMU	NM_018006.5(TRMU):c.706-24G>A	noncoding	Benign
22	46352263	G	A	G46352263A	TRMU	NM_018006.5(TRMU):c.706-1G>A	noncoding	Pathogenic
22	46352263	G	C	G46352263C	TRMU	NM_018006.5(TRMU):c.706-1G>C	noncoding	Pathogenic
22	46353449	G	A	G46353449A	TRMU	NM_018006.5(TRMU):c.773-318G>A	noncoding	Benign
22	46353737	C	T	C46353737T	TRMU	NM_018006.5(TRMU):c.773-30C>T	noncoding	Benign
22	46353988	C	G	C46353988G	TRMU	NM_018006.5(TRMU):c.873+121C>G	noncoding	Benign
22	46355225	T	C	T46355225C	TRMU	NM_018006.5(TRMU):c.874-219T>C	noncoding	Benign
22	46355331	C	T	C46355331T	TRMU	NM_018006.5(TRMU):c.874-113C>T	noncoding	Benign
22	46355389	C	T	C46355389T	TRMU	NM_018006.5(TRMU):c.874-55C>T	noncoding	Benign
22	46355513	G	T	G46355513T	TRMU	NM_018006.5(TRMU):c.943G>T:p.Glu315Ter	coding	Pathogenic
22	46364189	C	T	C46364189T	CELSR1	NM_001378328.1(CELSR1):c.8842G>A:p.Gly2948Ser	coding	Benign
22	46364205	C	T	C46364205T	CELSR1	NM_001378328.1(CELSR1):c.8826G>A:p.Thr2942=	coding	Benign
22	46367091	C	T	C46367091T	CELSR1	NM_001378328.1(CELSR1):c.8107G>A:p.Val2703Met	coding	Benign
22	46390418	T	C	T46390418C	CELSR1	NM_001378328.1(CELSR1):c.6319A>G:p.Ile2107Val	coding	Benign
22	46394235	C	T	C46394235T	CELSR1	NM_001378328.1(CELSR1):c.5871G>A:p.Trp1957Ter	coding	Pathogenic
22	46534116	C	A	C46534116A	CELSR1	NM_001378328.1(CELSR1):c.3055G>T:p.Ala1019Ser	coding	Benign
22	46534210	C	T	C46534210T	CELSR1	NM_001378328.1(CELSR1):c.2961G>A:p.Val987=	coding	Benign
22	46535896	G	C	G46535896C	CELSR1	NM_001378328.1(CELSR1):c.1275C>G:p.Leu425=	coding	Benign
22	46535941	G	A	G46535941A	CELSR1	NM_001378328.1(CELSR1):c.1230C>T:p.Ser410=	coding	Benign
22	46536135	T	A	T46536135A	CELSR1	NM_001378328.1(CELSR1):c.1036A>T:p.Thr346Ser	coding	Benign
22	46536957	G	A	G46536957A	CELSR1	NM_001378328.1(CELSR1):c.214C>T:p.Arg72Trp	coding	Benign
22	49794205	C	T	C49794205T	BRD1	NM_001304808.3(BRD1):c.2188G>A:p.Ala730Thr	coding	Benign
22	49823739	G	A	G49823739A	BRD1	NM_001304808.3(BRD1):c.579C>T:p.Phe193=	coding	Benign
22	49904273	C	T	C49904273T	ALG12	NM_024105.4(ALG12):c.1163-19G>A	noncoding	Benign/Likely_benign
22	49904452	G	C	G49904452C	ALG12	NM_024105.4(ALG12):c.1047C>G:p.Ile349Met	coding	Benign
22	49904525	C	T	C49904525T	ALG12	NM_024105.4(ALG12):c.993-19G>A	noncoding	Benign
22	49907924	G	T	G49907924T	ALG12	NM_024105.4(ALG12):c.789C>A:p.Tyr263Ter	coding	Pathogenic
22	49908016	T	C	T49908016C	ALG12	NM_024105.4(ALG12):c.769-72A>G	noncoding	Benign
22	49908981	G	A	G49908981A	ALG12	NM_024105.4(ALG12):c.768+263C>T	noncoding	Benign
22	49909023	T	A	T49909023A	ALG12	NM_024105.4(ALG12):c.768+221A>T	noncoding	Benign
22	49909227	C	T	C49909227T	ALG12	NM_024105.4(ALG12):c.768+17G>A	noncoding	Benign
22	49909228	G	A	G49909228A	ALG12	NM_024105.4(ALG12):c.768+16C>T	noncoding	Benign
22	49909376	C	T	C49909376T	ALG12	NM_024105.4(ALG12):c.665-29G>A	noncoding	Benign
22	49909440	G	A	G49909440A	ALG12	NM_024105.4(ALG12):c.665-93C>T	noncoding	Benign
22	49909501	G	C	G49909501C	ALG12	NM_024105.4(ALG12):c.665-154C>G	noncoding	Benign
22	49909601	G	A	G49909601A	ALG12	NM_024105.4(ALG12):c.665-254C>T	noncoding	Benign
22	49910036	C	T	C49910036T	ALG12	NM_024105.4(ALG12):c.522G>A:p.Trp174Ter	coding	Pathogenic
22	49910056	C	A	C49910056A	ALG12	NM_024105.4(ALG12):c.502G>T:p.Glu168Ter	coding	Pathogenic
22	49910342	C	T	C49910342T	ALG12	NM_024105.4(ALG12):c.469+92G>A	noncoding	Benign
22	49910716	G	A	G49910716A	ALG12	NM_024105.4(ALG12):c.296-109C>T	noncoding	Benign
22	49913093	G	A	G49913093A	ALG12	NM_024105.4(ALG12):c.295+292C>T	noncoding	Benign
22	49913292	C	T	C49913292T	ALG12	NM_024105.4(ALG12):c.295+93G>A	noncoding	Benign
22	49913321	G	A	G49913321A	ALG12	NM_024105.4(ALG12):c.295+64C>T	noncoding	Benign
22	49913515	G	T	G49913515T	ALG12	NM_024105.4(ALG12):c.165C>A:p.Tyr55Ter	coding	Pathogenic
22	49963045	T	C	T49963045C	PIM3	NM_001001852.4(PIM3):c.899T>C:p.Val300Ala	coding	Benign
22	50061834	T	C	T50061834C	MLC1	NM_015166.4(MLC1):c.1060-177A>G	noncoding	Benign
22	50064120	G	A	G50064120A	MLC1	NM_015166.4(MLC1):c.973C>T:p.Gln325Ter	coding	Pathogenic/Likely_pathogenic
22	50064337	C	T	C50064337T	MLC1	NM_015166.4(MLC1):c.895-139G>A	noncoding	Benign
22	50064457	C	T	C50064457T	MLC1	NM_015166.4(MLC1):c.895-259G>A	noncoding	Benign
22	50064459	T	C	T50064459C	MLC1	NM_015166.4(MLC1):c.895-261A>G	noncoding	Benign
22	50068234	G	A	G50068234A	MLC1	NM_015166.4(MLC1):c.894+199C>T	noncoding	Benign
22	50068239	C	T	C50068239T	MLC1	NM_015166.4(MLC1):c.894+194G>A	noncoding	Benign
22	50068381	A	G	A50068381G	MLC1	NM_015166.4(MLC1):c.894+52T>C	noncoding	Benign
22	50068446	G	A	G50068446A	MLC1	NM_015166.4(MLC1):c.881C>T:p.Pro294Leu	coding	Pathogenic
22	50068503	G	T	G50068503T	MLC1	NM_015166.4(MLC1):c.824C>A:p.Ala275Asp	coding	Pathogenic/Likely_pathogenic
22	50068569	G	A	G50068569A	MLC1	NM_015166.4(MLC1):c.772-14C>T	noncoding	Benign
22	50068635	G	C	G50068635C	MLC1	NM_015166.4(MLC1):c.772-80C>G	noncoding	Benign
22	50068665	T	C	T50068665C	MLC1	NM_015166.4(MLC1):c.772-110A>G	noncoding	Benign
22	50070243	A	T	A50070243T	MLC1	NM_015166.4(MLC1):c.771+284T>A	noncoding	Benign
22	50070273	A	C	A50070273C	MLC1	NM_015166.4(MLC1):c.771+254T>G	noncoding	Benign
22	50070292	G	A	G50070292A	MLC1	NM_015166.4(MLC1):c.771+235C>T	noncoding	Benign
22	50070321	G	A	G50070321A	MLC1	NM_015166.4(MLC1):c.771+206C>T	noncoding	Benign
22	50070352	A	G	A50070352G	MLC1	NM_015166.4(MLC1):c.771+175T>C	noncoding	Benign
22	50070367	A	G	A50070367G	MLC1	NM_015166.4(MLC1):c.771+160T>C	noncoding	Benign
22	50070369	C	T	C50070369T	MLC1	NM_015166.4(MLC1):c.771+158G>A	noncoding	Benign
22	50070466	A	G	A50070466G	MLC1	NM_015166.4(MLC1):c.771+61T>C	noncoding	Benign
22	50070468	G	T	G50070468T	MLC1	NM_015166.4(MLC1):c.771+59C>A	noncoding	Benign
22	50070767	G	A	G50070767A	MLC1	NM_015166.4(MLC1):c.715-184C>T	noncoding	Benign
22	50074085	T	G	T50074085G	MLC1	NM_015166.4(MLC1):c.714+131A>C	noncoding	Benign
22	50074215	C	T	C50074215T	MLC1	NM_015166.4(MLC1):c.714+1G>A	noncoding	Pathogenic/Likely_pathogenic
22	50074296	C	T	C50074296T	MLC1	NM_015166.4(MLC1):c.634G>A:p.Gly212Arg	coding	Pathogenic/Likely_pathogenic
22	50076577	G	A	G50076577A	MLC1	NM_015166.4(MLC1):c.597+264C>T	noncoding	Benign
22	50076807	T	C	T50076807C	MLC1	NM_015166.4(MLC1):c.597+34A>G	noncoding	Benign
22	50077030	G	A	G50077030A	MLC1	NM_015166.4(MLC1):c.526-118C>T	noncoding	Benign
22	50077248	C	T	C50077248T	MLC1	NM_015166.4(MLC1):c.525+153G>A	noncoding	Benign
22	50077337	C	T	C50077337T	MLC1	NM_015166.4(MLC1):c.525+64G>A	noncoding	Benign
22	50077766	T	C	T50077766C	MLC1	NM_015166.4(MLC1):c.424-264A>G	noncoding	Benign
22	50079797	A	C	A50079797C	MLC1	NM_015166.4(MLC1):c.423+121T>G	noncoding	Benign
22	50079810	T	C	T50079810C	MLC1	NM_015166.4(MLC1):c.423+108A>G	noncoding	Benign
22	50079899	G	A	G50079899A	MLC1	NM_015166.4(MLC1):c.423+19C>T	noncoding	Benign
22	50079973	G	A	G50079973A	MLC1	NM_015166.4(MLC1):c.368C>T:p.Thr123Ile	coding	Pathogenic
22	50080387	G	A	G50080387A	MLC1	NM_015166.4(MLC1):c.278C>T:p.Ser93Leu	coding	Pathogenic/Likely_pathogenic
22	50080391	G	A	G50080391A	MLC1	NM_015166.4(MLC1):c.274C>T:p.Pro92Ser	coding	Pathogenic/Likely_pathogenic
22	50083100	C	T	C50083100T	MLC1	NM_015166.4(MLC1):c.251G>A:p.Arg84His	coding	Pathogenic/Likely_pathogenic
22	50083168	G	T	G50083168T	MLC1	NM_015166.4(MLC1):c.183C>A:p.Cys61Ter	coding	Pathogenic
22	50083346	C	T	C50083346T	MLC1	NM_015166.4(MLC1):c.178-173G>A	noncoding	Benign
22	50083352	C	A	C50083352A	MLC1	NM_015166.4(MLC1):c.178-179G>T	noncoding	Benign
22	50084501	A	G	A50084501G	MLC1	NM_015166.4(MLC1):c.177+225T>C	noncoding	Benign
22	50084711	T	C	T50084711C	MLC1	NM_015166.4(MLC1):c.177+15A>G	noncoding	Benign/Likely_benign
22	50084784	G	T	G50084784T	MLC1	NM_015166.4(MLC1):c.119C>A:p.Ser40Ter	coding	Pathogenic
22	50084978	A	G	A50084978G	MLC1	NM_015166.4(MLC1):c.-59-17T>C	noncoding	Benign
22	50108237	C	T	C50108237T	MOV10L1	NM_018995.3(MOV10L1):c.544C>T:p.Arg182Cys	coding	Benign
22	50108849	G	A	G50108849A	MOV10L1	NM_018995.3(MOV10L1):c.743+5G>A	noncoding	Pathogenic
22	50117190	C	T	C50117190T	MOV10L1	NM_018995.3(MOV10L1):c.1293C>T:p.Leu431=	coding	Benign
22	50117206	C	T	C50117206T	MOV10L1	NM_018995.3(MOV10L1):c.1309C>T:p.Leu437=	coding	Benign
22	50117257	A	C	A50117257C	MOV10L1	NM_018995.3(MOV10L1):c.1360A>C:p.Ile454Leu	coding	Benign
22	50178227	T	C	T50178227C	PANX2	NM_052839.4(PANX2):c.1515T>C:p.Pro505=	coding	Benign
22	50217605	C	T	C50217605T	TUBGCP6	NM_031454.2(SELENOO):c.*236C>T	noncoding	Benign
22	50217624	T	A	T50217624A	TUBGCP6	Single_allele	noncoding	Benign
22	50217667	A	G	A50217667G	TUBGCP6	Single_allele	noncoding	Benign
22	50217680	A	C	A50217680C	TUBGCP6	Single_allele	noncoding	Benign
22	50217840	G	A	G50217840A	TUBGCP6	NM_020461.4(TUBGCP6):c.5369-13C>T	noncoding	Benign
22	50218244	C	T	C50218244T	TUBGCP6	NM_020461.4(TUBGCP6):c.5113G>A:p.Asp1705Asn	coding	Benign
22	50218415	A	G	A50218415G	TUBGCP6	NM_020461.4(TUBGCP6):c.4955-13T>C	noncoding	Benign
22	50218581	C	G	C50218581G	TUBGCP6	NM_020461.4(TUBGCP6):c.4861G>C:p.Val1621Leu	coding	Benign
22	50218683	C	T	C50218683T	TUBGCP6	NM_020461.4(TUBGCP6):c.4821+20G>A	noncoding	Benign
22	50218689	G	A	G50218689A	TUBGCP6	NM_020461.4(TUBGCP6):c.4821+14C>T	noncoding	Benign/Likely_benign
22	50218790	G	A	G50218790A	TUBGCP6	NM_020461.4(TUBGCP6):c.4734C>T:p.Ser1578=	coding	Benign
22	50218885	G	A	G50218885A	TUBGCP6	NM_020461.4(TUBGCP6):c.4639C>T:p.Gln1547Ter	coding	Pathogenic
22	50219110	G	A	G50219110A	TUBGCP6	NM_020461.4(TUBGCP6):c.4584C>T:p.Asp1528=	coding	Benign
22	50219725	G	A	G50219725A	TUBGCP6	NM_020461.4(TUBGCP6):c.4234C>T:p.Gln1412Ter	coding	Pathogenic
22	50219732	C	T	C50219732T	TUBGCP6	NM_020461.4(TUBGCP6):c.4227G>A:p.Ala1409=	coding	Benign
22	50219777	G	A	G50219777A	TUBGCP6	NM_020461.4(TUBGCP6):c.4182C>T:p.Ala1394=	coding	Benign
22	50219804	C	G	C50219804G	TUBGCP6	NM_020461.4(TUBGCP6):c.4168-13G>C	noncoding	Benign
22	50219845	C	G	C50219845G	TUBGCP6	NM_020461.4(TUBGCP6):c.4168-54G>C	noncoding	Benign
22	50220065	C	A	C50220065A	TUBGCP6	NM_020461.4(TUBGCP6):c.4109-50G>T	noncoding	Benign
22	50220072	A	G	A50220072G	TUBGCP6	NM_020461.4(TUBGCP6):c.4109-57T>C	noncoding	Benign
22	50220141	A	G	A50220141G	TUBGCP6	NM_020461.4(TUBGCP6):c.4108+110T>C	noncoding	Benign
22	50220269	T	A	T50220269A	TUBGCP6	NM_020461.4(TUBGCP6):c.4090A>T:p.Ser1364Cys	coding	Benign
22	50220292	C	T	C50220292T	TUBGCP6	NM_020461.4(TUBGCP6):c.4067G>A:p.Trp1356Ter	coding	Pathogenic
22	50220357	C	T	C50220357T	TUBGCP6	NM_020461.4(TUBGCP6):c.4002G>A:p.Ser1334=	coding	Benign
22	50220665	C	T	C50220665T	TUBGCP6	NM_020461.4(TUBGCP6):c.3694G>A:p.Val1232Met	coding	Benign
22	50220846	C	T	C50220846T	TUBGCP6	NM_020461.4(TUBGCP6):c.3513G>A:p.Leu1171=	coding	Benign/Likely_benign
22	50220912	C	T	C50220912T	TUBGCP6	NM_020461.4(TUBGCP6):c.3447G>A:p.Ser1149=	coding	Benign
22	50220918	G	A	G50220918A	TUBGCP6	NM_020461.4(TUBGCP6):c.3441C>T:p.Asn1147=	coding	Benign
22	50220951	G	A	G50220951A	TUBGCP6	NM_020461.4(TUBGCP6):c.3408C>T:p.His1136=	coding	Benign/Likely_benign
22	50220967	C	T	C50220967T	TUBGCP6	NM_020461.4(TUBGCP6):c.3392G>A:p.Trp1131Ter	coding	Pathogenic
22	50221169	C	T	C50221169T	TUBGCP6	NM_020461.4(TUBGCP6):c.3190G>A:p.Gly1064Arg	coding	Benign
22	50221277	G	A	G50221277A	TUBGCP6	NM_020461.4(TUBGCP6):c.3082C>T:p.Gln1028Ter	coding	Pathogenic
22	50221359	C	A	C50221359A	TUBGCP6	NM_020461.4(TUBGCP6):c.3000G>T:p.Arg1000=	coding	Benign
22	50221420	G	C	G50221420C	TUBGCP6	NM_020461.4(TUBGCP6):c.2939C>G:p.Ser980Ter	coding	Pathogenic
22	50221708	G	A	G50221708A	TUBGCP6	NM_020461.4(TUBGCP6):c.2651C>T:p.Ala884Val	coding	Benign
22	50221856	C	A	C50221856A	TUBGCP6	NM_020461.4(TUBGCP6):c.2503G>T:p.Glu835Ter	coding	Pathogenic
22	50222008	G	T	G50222008T	TUBGCP6	NM_020461.4(TUBGCP6):c.2484+20C>A	noncoding	Benign
22	50222182	C	T	C50222182T	TUBGCP6	NM_020461.4(TUBGCP6):c.2410-80G>A	noncoding	Benign
22	50222502	C	T	C50222502T	TUBGCP6	NM_020461.4(TUBGCP6):c.2361G>A:p.Leu787=	coding	Benign
22	50224129	G	A	G50224129A	TUBGCP6	NM_020461.4(TUBGCP6):c.2270+12C>T	noncoding	Benign
22	50224276	T	C	T50224276C	TUBGCP6	NM_020461.4(TUBGCP6):c.2155-20A>G	noncoding	Benign
22	50224408	G	C	G50224408C	TUBGCP6	NM_020461.4(TUBGCP6):c.2078C>G:p.Ser693Ter	coding	Pathogenic
22	50224431	A	G	A50224431G	TUBGCP6	NM_020461.4(TUBGCP6):c.2066-11T>C	noncoding	Benign/Likely_benign
22	50224499	G	A	G50224499A	TUBGCP6	NM_020461.4(TUBGCP6):c.2065+12C>T	noncoding	Benign
22	50224530	C	T	C50224530T	TUBGCP6	NM_020461.4(TUBGCP6):c.2046G>A:p.Arg682=	coding	Benign
22	50225815	G	A	G50225815A	TUBGCP6	NM_020461.4(TUBGCP6):c.1962C>T:p.Ser654=	coding	Benign
22	50225877	T	A	T50225877A	TUBGCP6	NM_020461.4(TUBGCP6):c.1900A>T:p.Lys634Ter	coding	Pathogenic
22	50226290	G	A	G50226290A	TUBGCP6	NM_020461.4(TUBGCP6):c.1690C>T:p.Arg564Ter	coding	Pathogenic
22	50226858	G	C	G50226858C	TUBGCP6	NM_020461.4(TUBGCP6):c.1492-16C>G	noncoding	Benign
22	50227083	C	T	C50227083T	TUBGCP6	NM_020461.4(TUBGCP6):c.1413-6G>A	noncoding	Benign
22	50227658	T	C	T50227658C	TUBGCP6	NM_020461.4(TUBGCP6):c.1412+249A>G	noncoding	Benign
22	50227794	G	A	G50227794A	TUBGCP6	NM_020461.4(TUBGCP6):c.1412+113C>T	noncoding	Benign
22	50228078	C	T	C50228078T	TUBGCP6	NM_020461.4(TUBGCP6):c.1291-50G>A	noncoding	Benign
22	50228186	C	T	C50228186T	TUBGCP6	NM_020461.4(TUBGCP6):c.1291-158G>A	noncoding	Benign
22	50229136	G	A	G50229136A	TUBGCP6	NM_020461.4(TUBGCP6):c.1290+268C>T	noncoding	Benign
22	50229430	A	G	A50229430G	TUBGCP6	NM_020461.4(TUBGCP6):c.1264T>C:p.Leu422=	coding	Benign
22	50233388	C	T	C50233388T	TUBGCP6	NM_020461.4(TUBGCP6):c.1044G>A:p.Lys348=	coding	Benign
22	50233725	G	A	G50233725A	TUBGCP6	NM_020461.4(TUBGCP6):c.906-199C>T	noncoding	Benign
22	50240142	T	C	T50240142C	TUBGCP6	NM_020461.4(TUBGCP6):c.905+62A>G	noncoding	Benign
22	50240191	G	C	G50240191C	TUBGCP6	NM_020461.4(TUBGCP6):c.905+13C>G	noncoding	Benign
22	50240343	C	A	C50240343A	TUBGCP6	NM_020461.4(TUBGCP6):c.766G>T:p.Glu256Ter	coding	Pathogenic
22	50243635	G	A	G50243635A	TUBGCP6	NM_020461.4(TUBGCP6):c.741+84C>T	noncoding	Benign
22	50243779	G	A	G50243779A	TUBGCP6	NM_020461.4(TUBGCP6):c.681C>T:p.Asp227=	coding	Benign/Likely_benign
22	50244348	T	A	T50244348A	TUBGCP6	NM_020461.4(TUBGCP6):c.112A>T:p.Lys38Ter	coding	Pathogenic
22	50244450	T	C	T50244450C	TUBGCP6	NM_020461.4(TUBGCP6):c.10A>G:p.Ile4Val	coding	Benign
22	50278700	T	G	T50278700G	PLXNB2	NM_012401.4(PLXNB2):c.4547-4A>C	noncoding	Benign
22	50280736	T	C	T50280736C	PLXNB2	NM_012401.4(PLXNB2):c.3993+8A>G	noncoding	Benign
22	50280822	A	G	A50280822G	PLXNB2	NM_012401.4(PLXNB2):c.3915T>C:p.Pro1305=	coding	Benign
22	50406363	A	G	A50406363G	PPP6R2	NM_001242898.2(PPP6R2):c.228-326A>G	noncoding	Pathogenic
22	50447791	T	C	T50447791C	SBF1	NM_002972.4(SBF1):c.5364-182A>G	noncoding	Benign
22	50448128	A	G	A50448128G	SBF1	NM_002972.4(SBF1):c.5363+105T>C	noncoding	Benign
22	50448424	A	C	A50448424C	SBF1	NM_002972.4(SBF1):c.5172T>G:p.Leu1724=	coding	Benign
22	50448515	G	A	G50448515A	SBF1	NM_002972.4(SBF1):c.5151+28C>T	noncoding	Benign
22	50455002	G	A	G50455002A	SBF1	NM_002972.4(SBF1):c.4681+14C>T	noncoding	Benign/Likely_benign
22	50455464	C	T	C50455464T	SBF1	NM_002972.4(SBF1):c.4368+17G>A	noncoding	Benign/Likely_benign
22	50455597	G	A	G50455597A	SBF1	NM_002972.4(SBF1):c.4267-15C>T	noncoding	Benign/Likely_benign
22	50455675	G	A	G50455675A	SBF1	NM_002972.4(SBF1):c.4267-93C>T	noncoding	Benign
22	50456279	G	A	G50456279A	SBF1	NM_002972.4(SBF1):c.4203C>T:p.Pro1401=	coding	Benign
22	50456420	G	A	G50456420A	SBF1	NM_002972.4(SBF1):c.4087-25C>T	noncoding	Benign
22	50456704	A	G	A50456704G	SBF1	NM_002972.4(SBF1):c.3905-31T>C	noncoding	Benign
22	50459280	G	A	G50459280A	SBF1	NM_002972.4(SBF1):c.3801C>T:p.Phe1267=	coding	Benign
22	50459307	C	T	C50459307T	SBF1	NM_002972.4(SBF1):c.3774G>A:p.Ala1258=	coding	Benign
22	50459439	G	A	G50459439A	SBF1	NM_002972.4(SBF1):c.3688+31C>T	noncoding	Benign
22	50459444	G	C	G50459444C	SBF1	NM_002972.4(SBF1):c.3688+26C>G	noncoding	Benign
22	50459495	G	A	G50459495A	SBF1	NM_002972.4(SBF1):c.3663C>T:p.Phe1221=	coding	Benign
22	50459504	G	A	G50459504A	SBF1	NM_002972.4(SBF1):c.3654C>T:p.Val1218=	coding	Benign/Likely_benign
22	50459510	A	C	A50459510C	SBF1	NM_002972.4(SBF1):c.3648T>G:p.Gly1216=	coding	Benign
22	50459597	G	A	G50459597A	SBF1	NM_002972.4(SBF1):c.3561C>T:p.Tyr1187=	coding	Benign
22	50459685	G	A	G50459685A	SBF1	NM_002972.4(SBF1):c.3492-19C>T	noncoding	Benign
22	50460098	G	A	G50460098A	SBF1	NM_002972.4(SBF1):c.3345C>T:p.Arg1115=	coding	Benign
22	50460171	G	A	G50460171A	SBF1	NM_002972.4(SBF1):c.3284-12C>T	noncoding	Benign/Likely_benign
22	50460190	G	A	G50460190A	SBF1	NM_002972.4(SBF1):c.3284-31C>T	noncoding	Benign
22	50460419	C	T	C50460419T	SBF1	NM_002972.4(SBF1):c.3147-11G>A	noncoding	Benign
22	50460881	G	A	G50460881A	SBF1	NM_002972.4(SBF1):c.2968-169C>T	noncoding	Benign
22	50460996	T	C	T50460996C	SBF1	NM_002972.4(SBF1):c.2967+163A>G	noncoding	Benign
22	50461143	G	A	G50461143A	SBF1	NM_002972.4(SBF1):c.2967+16C>T	noncoding	Benign
22	50461150	G	A	G50461150A	SBF1	NM_002972.4(SBF1):c.2967+9C>T	noncoding	Benign
22	50461278	G	A	G50461278A	SBF1	NM_002972.4(SBF1):c.2848C>T:p.Gln950Ter	coding	Pathogenic
22	50461329	G	C	G50461329C	SBF1	NM_002972.4(SBF1):c.2840-43C>G	noncoding	Benign
22	50461724	C	G	C50461724G	SBF1	NM_002972.4(SBF1):c.2644-6G>C	noncoding	Benign
22	50461757	G	A	G50461757A	SBF1	NM_002972.4(SBF1):c.2643+39C>T	noncoding	Benign
22	50461781	A	G	A50461781G	SBF1	NM_002972.4(SBF1):c.2643+15T>C	noncoding	Benign
22	50461931	G	A	G50461931A	SBF1	NM_002972.4(SBF1):c.2569+16C>T	noncoding	Benign/Likely_benign
22	50462014	C	T	C50462014T	SBF1	NM_002972.4(SBF1):c.2502G>A:p.Val834=	coding	Benign
22	50462179	G	C	G50462179C	SBF1	NM_002972.4(SBF1):c.2396+26C>G	noncoding	Benign
22	50462312	G	A	G50462312A	SBF1	NM_002972.4(SBF1):c.2289C>T:p.Arg763=	coding	Pathogenic
22	50462345	C	T	C50462345T	SBF1	NM_002972.4(SBF1):c.2256G>A:p.Thr752=	coding	Benign
22	50462465	C	A	C50462465A	SBF1	NM_002972.4(SBF1):c.2136G>T:p.Gly712=	coding	Benign
22	50462490	C	T	C50462490T	SBF1	NM_002972.4(SBF1):c.2128-17G>A	noncoding	Benign/Likely_benign
22	50462522	T	C	T50462522C	SBF1	NM_002972.4(SBF1):c.2127+37A>G	noncoding	Benign
22	50462580	C	T	C50462580T	SBF1	NM_002972.4(SBF1):c.2106G>A:p.Thr702=	coding	Benign
22	50462754	C	G	C50462754G	SBF1	NM_002972.4(SBF1):c.1969-37G>C	noncoding	Benign
22	50462830	G	C	G50462830C	SBF1	NM_002972.4(SBF1):c.1968+40C>G	noncoding	Benign
22	50462830	G	T	G50462830T	SBF1	NM_002972.4(SBF1):c.1968+40C>A	noncoding	Benign
22	50462837	T	C	T50462837C	SBF1	NM_002972.4(SBF1):c.1968+33A>G	noncoding	Benign
22	50462855	C	T	C50462855T	SBF1	NM_002972.4(SBF1):c.1968+15G>A	noncoding	Benign
22	50463646	A	G	A50463646G	SBF1	NM_002972.4(SBF1):c.1750-214T>C	noncoding	Benign
22	50464322	C	T	C50464322T	SBF1	NM_002972.4(SBF1):c.1749+7G>A	noncoding	Benign
22	50464721	G	A	G50464721A	SBF1	NM_002972.4(SBF1):c.1449C>T:p.Ala483=	coding	Benign/Likely_benign
22	50464751	G	A	G50464751A	SBF1	NM_002972.4(SBF1):c.1432-13C>T	noncoding	Benign/Likely_benign
22	50464792	C	T	C50464792T	SBF1	NM_002972.4(SBF1):c.1431+27G>A	noncoding	Benign
22	50465744	G	A	G50465744A	SBF1	NM_002972.4(SBF1):c.1089+19C>T	noncoding	Benign
22	50465748	A	G	A50465748G	SBF1	NM_002972.4(SBF1):c.1089+15T>C	noncoding	Benign
22	50466092	C	T	C50466092T	SBF1	NM_002972.4(SBF1):c.898-18G>A	noncoding	Benign/Likely_benign
22	50466340	C	T	C50466340T	SBF1	NM_002972.4(SBF1):c.788+10G>A	noncoding	Benign
22	50466730	G	A	G50466730A	SBF1	NM_002972.4(SBF1):c.550-20C>T	noncoding	Benign
22	50467135	G	A	G50467135A	SBF1	NM_002972.4(SBF1):c.549+203C>T	noncoding	Benign
22	50467475	G	A	G50467475A	SBF1	NM_002972.4(SBF1):c.439-27C>T	noncoding	Benign
22	50467558	G	T	G50467558T	SBF1	NM_002972.4(SBF1):c.412C>A:p.Arg138=	coding	Benign
22	50467594	G	A	G50467594A	SBF1	NM_002972.4(SBF1):c.376C>T:p.Gln126Ter	coding	Pathogenic
22	50467679	G	A	G50467679A	SBF1	NM_002972.4(SBF1):c.291C>T:p.Arg97=	coding	Benign
22	50467717	G	A	G50467717A	SBF1	NM_002972.4(SBF1):c.280-27C>T	noncoding	Benign
22	50468089	G	A	G50468089A	SBF1	NM_002972.4(SBF1):c.142-166C>T	noncoding	Benign
22	50468152	A	G	A50468152G	SBF1	NM_002972.4(SBF1):c.141+224T>C	noncoding	Benign
22	50468478	G	A	G50468478A	SBF1	NM_002972.4(SBF1):c.56-17C>T	noncoding	Benign
22	50468488	C	A	C50468488A	SBF1	NM_002972.4(SBF1):c.56-27G>T	noncoding	Benign
22	50474535	G	A	G50474535A	SBF1	NM_002972.4(SBF1):c.55+251C>T	noncoding	Benign
22	50474567	C	T	C50474567T	SBF1	NM_002972.4(SBF1):c.55+219G>A	noncoding	Benign
22	50474593	T	C	T50474593C	SBF1	NM_002972.4(SBF1):c.55+193A>G	noncoding	Benign
22	50474753	C	T	C50474753T	SBF1	NM_002972.4(SBF1):c.55+33G>A	noncoding	Benign
22	50474773	C	T	C50474773T	SBF1	NM_002972.4(SBF1):c.55+13G>A	noncoding	Benign
22	50474777	G	A	G50474777A	SBF1	NM_002972.4(SBF1):c.55+9C>T	noncoding	Benign
22	50474779	C	T	C50474779T	SBF1	NM_002972.4(SBF1):c.55+7G>A	noncoding	Benign
22	50474909	G	A	G50474909A	SBF1	NM_002972.4(SBF1):c.-69C>T	noncoding	Benign
22	50474926	G	A	G50474926A	SBF1	NM_002972.4(SBF1):c.-86C>T	noncoding	Benign
22	50475000	T	C	T50475000C	SBF1	NM_002972.4(SBF1):c.-160A>G	noncoding	Benign
22	50475096	G	A	G50475096A	SBF1	Single_allele	noncoding	Benign
22	50475114	A	C	A50475114C	SBF1	Single_allele	noncoding	Benign
22	50475181	G	A	G50475181A	SBF1	Single_allele	noncoding	Benign
22	50475210	C	T	C50475210T	SBF1	Single_allele	noncoding	Benign
22	50475225	C	A	C50475225A	SBF1	Single_allele	noncoding	Benign
22	50475252	C	T	C50475252T	SBF1	Single_allele	noncoding	Benign
22	50523425	T	C	T50523425C	SCO2	NM_152299.4(NCAPH2):c.*50T>C	noncoding	Benign
22	50524156	G	A	G50524156A	SCO2	NM_005138.3(SCO2):c.256C>T:p.Gln86Ter	coding	Pathogenic
22	50526116	C	T	C50526116T	TYMP	NM_001953.5(TYMP):c.1185G>A:p.Leu395_Pro396=	coding	Benign/Likely_benign
22	50526170	G	C	G50526170C	TYMP	NM_001953.5(TYMP):c.1160-29C>G	noncoding	Benign
22	50526435	C	A	C50526435A	TYMP	NM_001953.5(TYMP):c.970G>T:p.Ala324Ser	coding	Benign
22	50526791	G	A	G50526791A	TYMP	NM_001953.5(TYMP):c.766-53C>T	noncoding	Benign
22	50527613	G	A	G50527613A	TYMP	NM_001953.5(TYMP):c.621C>T:p.Thr207=	coding	Benign/Likely_benign
22	50527675	G	A	G50527675A	TYMP	NM_001953.5(TYMP):c.559C>T:p.Gln187Ter	coding	Pathogenic
22	50527755	A	G	A50527755G	TYMP	NM_001953.5(TYMP):c.517-38T>C	noncoding	Benign
22	50528511	C	G	C50528511G	TYMP	NM_001953.5(TYMP):c.516+1G>C	noncoding	Pathogenic
22	50528571	C	T	C50528571T	TYMP	NM_001953.5(TYMP):c.457G>A:p.Gly153Ser	coding	Pathogenic
22	50528595	C	T	C50528595T	TYMP	NM_001953.5(TYMP):c.433G>A:p.Gly145Arg	coding	Pathogenic/Likely_pathogenic
22	50529318	G	A	G50529318A	TYMP	NM_001953.5(TYMP):c.235C>T:p.Arg79Ter	coding	Pathogenic
22	50529346	G	A	G50529346A	TYMP	NM_001953.5(TYMP):c.215-8C>T	noncoding	Benign/Likely_benign
22	50529511	G	A	G50529511A	TYMP	NM_001953.5(TYMP):c.199C>T:p.Gln67Ter	coding	Pathogenic
22	50529574	C	A	C50529574A	TYMP	NM_001953.5(TYMP):c.136G>T:p.Gly46Ter	coding	Pathogenic
22	50529836	T	G	T50529836G	TYMP	NM_001953.5(TYMP):c.-11+68A>C	noncoding	Benign
22	50530129	C	T	C50530129T	TYMP	Single_allele	noncoding	Benign
22	50571058	T	C	T50571058C	CPT1B	NM_152246.3(CPT1B):c.1876-15A>G	noncoding	Benign/Likely_benign
22	50574425	G	A	G50574425A	CPT1B	NM_152246.3(CPT1B):c.886-6C>T	noncoding	Benign
22	50578924	T	C	T50578924C	CHKB	Single_allele	noncoding	Benign
22	50579284	G	A	G50579284A	CHKB	NM_005198.5(CHKB):c.1114-29C>T	noncoding	Benign
22	50579365	A	G	A50579365G	CHKB	NM_005198.5(CHKB):c.1113+61T>C	noncoding	Benign
22	50579755	C	A	C50579755A	CHKB	NM_005198.5(CHKB):c.1003G>T:p.Glu335Ter	coding	Pathogenic
22	50579976	G	A	G50579976A	CHKB	NM_005198.5(CHKB):c.925C>T:p.Gln309Ter	coding	Pathogenic
22	50580031	G	A	G50580031A	CHKB	NM_005198.5(CHKB):c.870C>T:p.His290=	coding	Benign/Likely_benign
22	50580048	C	A	C50580048A	CHKB	NM_005198.5(CHKB):c.853G>T:p.Val285Phe	coding	Benign
22	50580135	G	A	G50580135A	CHKB	NM_005198.5(CHKB):c.819-53C>T	noncoding	Benign
22	50580150	A	G	A50580150G	CHKB	NM_005198.5(CHKB):c.818+40T>C	noncoding	Benign
22	50580272	C	G	C50580272G	CHKB	NM_005198.5(CHKB):c.737-1G>C	coding	Pathogenic
22	50580773	C	G	C50580773G	CHKB	NM_005198.5(CHKB):c.582-113G>C	noncoding	Benign
22	50582566	G	C	G50582566C	CHKB	NM_005198.5(CHKB):c.216C>G:p.Tyr72Ter	coding	Pathogenic
22	50582619	C	A	C50582619A	CHKB	NM_005198.5(CHKB):c.163G>T:p.Glu55Ter	coding	Pathogenic
22	50624935	T	C	T50624935C	ARSA	NM_000487.6(ARSA):c.*210A>G	noncoding	Benign
22	50625382	A	T	A50625382T	ARSA	NM_000487.6(ARSA):c.1293T>A:p.Tyr431Ter	coding	Pathogenic
22	50625443	G	A	G50625443A	ARSA	NM_000487.6(ARSA):c.1232C>T:p.Thr411Ile	coding	Pathogenic/Likely_pathogenic
22	50625566	G	T	G50625566T	ARSA	NM_000487.6(ARSA):c.1210+13C>A	noncoding	Benign/Likely_benign
22	50625674	C	T	C50625674T	ARSA	NM_000487.6(ARSA):c.1115G>A:p.Arg372Gln	coding	Pathogenic/Likely_pathogenic
22	50625713	G	A	G50625713A	ARSA	NM_000487.6(ARSA):c.1108-32C>T	noncoding	Benign
22	50625725	C	T	C50625725T	ARSA	NM_000487.6(ARSA):c.1108-44G>A	noncoding	Benign
22	50625741	G	A	G50625741A	ARSA	NM_000487.6(ARSA):c.1108-60C>T	noncoding	Benign
22	50625935	C	A	C50625935A	ARSA	NM_000487.6(ARSA):c.1107+1G>T	noncoding	Pathogenic
22	50625935	C	T	C50625935T	ARSA	NM_000487.6(ARSA):c.1107+1G>A	noncoding	Pathogenic
22	50626116	T	C	T50626116C	ARSA	NM_000487.6(ARSA):c.979+38A>G	noncoding	Benign
22	50626141	C	A	C50626141A	ARSA	NM_000487.6(ARSA):c.979+13G>T	noncoding	Benign
22	50626153	C	T	C50626153T	ARSA	NM_000487.6(ARSA):c.979+1G>A	noncoding	Pathogenic/Likely_pathogenic
22	50626195	C	T	C50626195T	ARSA	NM_000487.6(ARSA):c.938G>A:p.Arg313Gln	coding	Pathogenic/Likely_pathogenic
22	50626232	G	A	G50626232A	ARSA	NM_000487.6(ARSA):c.901C>T:p.Arg301Trp	coding	Pathogenic
22	50626390	T	C	T50626390C	ARSA	NM_000487.6(ARSA):c.855-112A>G	noncoding	Benign
22	50626470	G	A	G50626470A	ARSA	NM_000487.6(ARSA):c.854+121C>T	noncoding	Benign
22	50626487	G	A	G50626487A	ARSA	NM_000487.6(ARSA):c.854+104C>T	noncoding	Benign
22	50626491	C	T	C50626491T	ARSA	NM_000487.6(ARSA):c.854+100G>A	noncoding	Benign
22	50626690	G	T	G50626690T	ARSA	NM_000487.6(ARSA):c.755C>A:p.Ser252Tyr	coding	Pathogenic
22	50626714	G	T	G50626714T	ARSA	NM_000487.6(ARSA):c.731C>A:p.Ser244Ter	coding	Pathogenic
22	50626721	C	A	C50626721A	ARSA	NM_000487.6(ARSA):c.724G>T:p.Glu242Ter	coding	Pathogenic/Likely_pathogenic
22	50626762	T	C	T50626762C	ARSA	NM_000487.6(ARSA):c.685-2A>G	noncoding	Pathogenic
22	50626801	G	A	G50626801A	ARSA	NM_000487.6(ARSA):c.684+33C>T	noncoding	Benign/Likely_benign
22	50626878	C	G	C50626878G	ARSA	NM_000487.6(ARSA):c.640G>C:p.Ala214Pro	coding	Pathogenic
22	50626911	A	G	A50626911G	ARSA	NM_000487.6(ARSA):c.607T>C:p.Tyr203His	coding	Pathogenic
22	50627030	C	G	C50627030G	ARSA	NM_000487.6(ARSA):c.488G>C:p.Cys163Ser	coding	Pathogenic
22	50627338	G	A	G50627338A	ARSA	NM_000487.6(ARSA):c.293C>T:p.Ser98Phe	coding	Pathogenic/Likely_pathogenic
22	50627361	G	T	G50627361T	ARSA	NM_000487.6(ARSA):c.270C>A:p.Tyr90Ter	coding	Pathogenic
22	50628185	G	T	G50628185T	ARSA	Single_allele	noncoding	Benign
22	50628271	T	C	T50628271C	ARSA	Single_allele	noncoding	Benign
22	50674726	C	T	C50674726T	SHANK3	NM_001372044.2(SHANK3):c.290+22C>T	noncoding	Benign
22	50675030	G	A	G50675030A	SHANK3	NM_033517.1(SHANK3):c.64-18G>A	noncoding	Benign/Likely_benign
22	50675233	G	T	G50675233T	SHANK3	NM_033517.1(SHANK3):c.249G>T:p.Thr83=	coding	Benign/Likely_benign
22	50678574	C	T	C50678574T	SHANK3	NM_001372044.2(SHANK3):c.567-11C>T	noncoding	Benign
22	50678594	A	T	A50678594T	SHANK3	NM_001372044.2(SHANK3):c.574A>T:p.Lys192Ter	coding	Pathogenic
22	50678709	G	A	G50678709A	SHANK3	NM_001372044.2(SHANK3):c.675+16G>A	noncoding	Benign
22	50678747	C	T	C50678747T	SHANK3	NM_001372044.2(SHANK3):c.676-22C>T	noncoding	Benign
22	50678791	C	T	C50678791T	SHANK3	NM_033517.1(SHANK3):c.471C>T:p.Ala157=	coding	Benign/Likely_benign
22	50678803	C	T	C50678803T	SHANK3	NM_033517.1(SHANK3):c.483C>T:p.Asn161=	coding	Benign/Likely_benign
22	50678932	C	T	C50678932T	SHANK3	NM_001372044.2(SHANK3):c.827+12C>T	noncoding	Benign
22	50678941	G	A	G50678941A	SHANK3	NM_001372044.2(SHANK3):c.827+21G>A	noncoding	Benign
22	50679232	T	G	T50679232G	SHANK3	NM_001372044.2(SHANK3):c.995+46T>G	noncoding	Benign
22	50679285	C	G	C50679285G	SHANK3	NM_001372044.2(SHANK3):c.996-27C>G	noncoding	Benign
22	50679305	C	G	C50679305G	SHANK3	NM_001372044.2(SHANK3):c.996-7C>G	noncoding	Benign
22	50679437	G	A	G50679437A	SHANK3	NM_001372044.2(SHANK3):c.1112+9G>A	noncoding	Benign
22	50683093	C	T	C50683093T	SHANK3	NM_001372044.2(SHANK3):c.1113-247C>T	noncoding	Benign
22	50683112	G	A	G50683112A	SHANK3	NM_001372044.2(SHANK3):c.1113-228G>A	noncoding	Benign
22	50683133	G	T	G50683133T	SHANK3	NM_001372044.2(SHANK3):c.1113-207G>T	noncoding	Benign
22	50683332	C	T	C50683332T	SHANK3	NM_001372044.2(SHANK3):c.1113-8C>T	noncoding	Benign
22	50683333	G	A	G50683333A	SHANK3	NM_001372044.2(SHANK3):c.1113-7G>A	noncoding	Benign
22	50683424	C	T	C50683424T	SHANK3	NM_001372044.2(SHANK3):c.1190+7C>T	noncoding	Benign/Likely_benign
22	50684518	C	T	C50684518T	SHANK3	NM_001372044.2(SHANK3):c.1191-67C>T	noncoding	Benign
22	50684597	G	A	G50684597A	SHANK3	NM_001372044.2(SHANK3):c.1201G>A:p.Ala401Thr	coding	Benign/Likely_benign
22	50684664	C	T	C50684664T	SHANK3	NM_001372044.2(SHANK3):c.1257+13C>T	noncoding	Benign
22	50684673	G	A	G50684673A	SHANK3	NM_001372044.2(SHANK3):c.1257+22G>A	noncoding	Benign
22	50694855	C	T	C50694855T	SHANK3	NM_001372044.2(SHANK3):c.1336C>T:p.Gln446Ter	coding	Pathogenic
22	50695032	G	A	G50695032A	SHANK3	NM_033517.1(SHANK3):c.1288G>A:p.Gly430Ser	coding	Benign/Likely_benign
22	50695080	T	G	T50695080G	SHANK3	NM_001372044.2(SHANK3):c.1529+34T>G	noncoding	Benign
22	50695090	G	A	G50695090A	SHANK3	NM_001372044.2(SHANK3):c.1529+44G>A	noncoding	Benign
22	50695092	G	A	G50695092A	SHANK3	NM_001372044.2(SHANK3):c.1529+46G>A	noncoding	Benign
22	50695152	C	A	C50695152A	SHANK3	NM_001372044.2(SHANK3):c.1529+106C>A	noncoding	Benign
22	50696956	C	T	C50696956T	SHANK3	NM_001372044.2(SHANK3):c.1530-601C>T	noncoding	Benign
22	50697023	G	C	G50697023C	SHANK3	NM_001372044.2(SHANK3):c.1530-534G>C	noncoding	Benign
22	50697117	T	C	T50697117C	SHANK3	NM_001372044.2(SHANK3):c.1530-440T>C	noncoding	Benign
22	50697167	A	T	A50697167T	SHANK3	NM_001372044.2(SHANK3):c.1530-390A>T	noncoding	Benign
22	50697579	G	A	G50697579A	SHANK3	NM_001372044.2(SHANK3):c.1587G>A:p.Ala529=	coding	Benign
22	50697598	C	G	C50697598G	SHANK3	NM_001372044.2(SHANK3):c.1606C>G:p.Arg536Gly	coding	Benign
22	50697627	C	T	C50697627T	SHANK3	NM_001372044.2(SHANK3):c.1635C>T:p.Ala545=	coding	Benign
22	50697729	G	C	G50697729C	SHANK3	NM_001372044.2(SHANK3):c.1688+14G>C	noncoding	Benign
22	50697980	C	T	C50697980T	SHANK3	NM_001372044.2(SHANK3):c.1688+265C>T	noncoding	Benign
22	50698666	G	A	G50698666A	SHANK3	NM_001372044.2(SHANK3):c.1689-24G>A	noncoding	Benign
22	50698668	C	T	C50698668T	SHANK3	NM_001372044.2(SHANK3):c.1689-22C>T	noncoding	Benign
22	50698821	T	C	T50698821C	SHANK3	NM_001372044.2(SHANK3):c.1802+18T>C	noncoding	Benign
22	50698825	C	G	C50698825G	SHANK3	NM_001372044.2(SHANK3):c.1802+22C>G	noncoding	Benign
22	50698825	C	T	C50698825T	SHANK3	NM_001372044.2(SHANK3):c.1802+22C>T	noncoding	Benign
22	50703827	C	T	C50703827T	SHANK3	NM_001372044.2(SHANK3):c.1803-33C>T	noncoding	Benign
22	50703852	C	T	C50703852T	SHANK3	NM_001372044.2(SHANK3):c.1803-8C>T	noncoding	Benign
22	50704261	G	A	G50704261A	SHANK3	NM_001372044.2(SHANK3):c.1961+13G>A	noncoding	Benign
22	50704264	T	A	T50704264A	SHANK3	NM_001372044.2(SHANK3):c.1961+16T>A	noncoding	Benign
22	50704268	C	T	C50704268T	SHANK3	NM_001372044.2(SHANK3):c.1961+20C>T	noncoding	Benign
22	50704275	C	T	C50704275T	SHANK3	NM_001372044.2(SHANK3):c.1961+27C>T	noncoding	Benign
22	50704551	G	T	G50704551T	SHANK3	NM_001372044.2(SHANK3):c.1962-187G>T	noncoding	Benign
22	50704859	C	T	C50704859T	SHANK3	NM_033517.1(SHANK3):c.1893C>T:p.Ile631=	coding	Benign/Likely_benign
22	50704880	G	A	G50704880A	SHANK3	NM_001372044.2(SHANK3):c.2086+18G>A	noncoding	Benign
22	50704881	G	C	G50704881C	SHANK3	NM_001372044.2(SHANK3):c.2086+19G>C	noncoding	Benign
22	50704898	G	A	G50704898A	SHANK3	NM_001372044.2(SHANK3):c.2086+36G>A	noncoding	Benign
22	50704923	C	T	C50704923T	SHANK3	NM_001372044.2(SHANK3):c.2087-41C>T	noncoding	Benign
22	50704990	C	T	C50704990T	SHANK3	NM_001372044.2(SHANK3):c.2148C>T:p.Val716=	coding	Benign
22	50705026	T	C	T50705026C	SHANK3	NM_001372044.2(SHANK3):c.2184T>C:p.Gly728=	coding	Benign/Likely_benign
22	50705178	C	G	C50705178G	SHANK3	NM_001372044.2(SHANK3):c.2219+82C>G	noncoding	Benign
22	50705877	G	A	G50705877A	SHANK3	NM_001372044.2(SHANK3):c.2220-195G>A	noncoding	Benign
22	50705877	G	C	G50705877C	SHANK3	NM_001372044.2(SHANK3):c.2220-195G>C	noncoding	Benign
22	50706036	T	C	T50706036C	SHANK3	NM_001372044.2(SHANK3):c.2220-36T>C	noncoding	Benign
22	50706113	C	T	C50706113T	SHANK3	NM_033517.1(SHANK3):c.2071C>T:p.Leu691=	coding	Benign/Likely_benign
22	50706162	G	A	G50706162A	SHANK3	NM_001372044.2(SHANK3):c.2300+10G>A	noncoding	Benign
22	50706303	T	C	T50706303C	SHANK3	NM_001372044.2(SHANK3):c.2300+151T>C	noncoding	Benign
22	50711564	C	T	C50711564T	SHANK3	NM_001372044.2(SHANK3):c.2301-51C>T	noncoding	Benign
22	50711647	T	C	T50711647C	SHANK3	NM_001372044.2(SHANK3):c.2324+9T>C	noncoding	Benign
22	50711661	C	T	C50711661T	SHANK3	NM_001372044.2(SHANK3):c.2324+23C>T	noncoding	Benign
22	50711739	T	C	T50711739C	SHANK3	NM_001372044.2(SHANK3):c.2324+101T>C	noncoding	Benign
22	50714768	G	A	G50714768A	SHANK3	NM_001372044.2(SHANK3):c.2325-149G>A	noncoding	Benign
22	50714851	G	C	G50714851C	SHANK3	NM_001372044.2(SHANK3):c.2325-66G>C	noncoding	Benign
22	50714993	C	T	C50714993T	SHANK3	NM_033517.1(SHANK3):c.2211C>T:p.Ala737=	coding	Benign/Likely_benign
22	50715073	G	A	G50715073A	SHANK3	NM_001372044.2(SHANK3):c.2455+26G>A	noncoding	Benign
22	50715167	C	T	C50715167T	SHANK3	NM_001372044.2(SHANK3):c.2455+120C>T	noncoding	Benign
22	50715228	C	T	C50715228T	SHANK3	NM_001372044.2(SHANK3):c.2455+181C>T	noncoding	Benign
22	50715412	G	T	G50715412T	SHANK3	NM_001372044.2(SHANK3):c.2456-257G>T	noncoding	Benign
22	50715607	G	A	G50715607A	SHANK3	NM_001372044.2(SHANK3):c.2456-62G>A	noncoding	Benign
22	50715620	G	A	G50715620A	SHANK3	NM_001372044.2(SHANK3):c.2456-49G>A	noncoding	Benign
22	50716030	T	C	T50716030C	SHANK3	NM_001372044.2(SHANK3):c.2540+277T>C	noncoding	Benign
22	50720071	T	G	T50720071G	SHANK3	NM_001372044.2(SHANK3):c.2541-113T>G	noncoding	Benign
22	50720089	G	A	G50720089A	SHANK3	NM_001372044.2(SHANK3):c.2541-95G>A	noncoding	Benign
22	50720407	C	T	C50720407T	SHANK3	NM_001372044.2(SHANK3):c.2799C>T:p.Gly933=	coding	Benign
22	50720479	T	A	T50720479A	SHANK3	NM_001372044.2(SHANK3):c.2871T>A:p.Tyr957Ter	coding	Pathogenic
22	50720582	C	T	C50720582T	SHANK3	NM_001372044.2(SHANK3):c.2974C>T:p.Arg992Ter	coding	Pathogenic
22	50720722	G	C	G50720722C	SHANK3	NM_033517.1(SHANK3):c.2889G>C:p.Ala963=	coding	Benign/Likely_benign
22	50720752	C	T	C50720752T	SHANK3	NM_001372044.2(SHANK3):c.3144C>T:p.Ser1048=	coding	Benign/Likely_benign
22	50720783	G	T	G50720783T	SHANK3	NM_001372044.2(SHANK3):c.3175G>T:p.Glu1059Ter	coding	Pathogenic
22	50720865	G	T	G50720865T	SHANK3	NM_033517.1(SHANK3):c.3032G>T:p.Gly1011Val	coding	Benign/Likely_benign
22	50721095	C	T	C50721095T	SHANK3	NM_001372044.2(SHANK3):c.3487C>T:p.Pro1163Ser	coding	Benign
22	50721313	T	C	T50721313C	SHANK3	NM_001372044.2(SHANK3):c.3705T>C:p.Ala1235=	coding	Benign/Likely_benign
22	50721350	G	A	G50721350A	SHANK3	NM_033517.1(SHANK3):c.3517G>A:p.Ala1173Thr	coding	Benign/Likely_benign
22	50721374	C	A	C50721374A	SHANK3	NM_001372044.2(SHANK3):c.3766C>A:p.Pro1256Thr	coding	Benign/Likely_benign
22	50721484	C	T	C50721484T	SHANK3	NM_033517.1(SHANK3):c.3651C>T:p.Asn1217=	coding	Benign/Likely_benign
22	50721515	G	T	G50721515T	SHANK3	NM_001372044.2(SHANK3):c.3907G>T:p.Glu1303Ter	coding	Pathogenic
22	50721567	C	T	C50721567T	SHANK3	NM_001372044.2(SHANK3):c.3959C>T:p.Ala1320Val	coding	Benign
22	50721621	C	T	C50721621T	SHANK3	NM_001372044.2(SHANK3):c.4013C>T:p.Pro1338Leu	coding	Benign
22	50721646	C	T	C50721646T	SHANK3	NM_033517.1(SHANK3):c.3813C>T:p.Gly1271=	coding	Benign/Likely_benign
22	50721698	C	T	C50721698T	SHANK3	NM_001372044.2(SHANK3):c.4090C>T:p.Gln1364Ter	coding	Pathogenic
22	50721709	C	T	C50721709T	SHANK3	NM_001372044.2(SHANK3):c.4101C>T:p.Ser1367=	coding	Benign
22	50721712	C	T	C50721712T	SHANK3	NM_001372044.2(SHANK3):c.4104C>T:p.Ser1368=	coding	Benign/Likely_benign
22	50721778	C	T	C50721778T	SHANK3	NM_001372044.2(SHANK3):c.4170C>T:p.Asn1390=	coding	Benign/Likely_benign
22	50721831	T	G	T50721831G	SHANK3	NM_033517.1(SHANK3):c.3998T>G:p.Val1333Gly	coding	Benign/Likely_benign
22	50722000	C	T	C50722000T	SHANK3	NM_001372044.2(SHANK3):c.4392C>T:p.Ser1464=	coding	Benign
22	50722018	C	T	C50722018T	SHANK3	NM_001372044.2(SHANK3):c.4410C>T:p.Thr1470=	coding	Benign/Likely_benign
22	50722177	C	T	C50722177T	SHANK3	NM_033517.1(SHANK3):c.4344C>T:p.His1448=	coding	Benign/Likely_benign
22	50722189	C	T	C50722189T	SHANK3	NM_001372044.2(SHANK3):c.4581C>T:p.Ala1527=	coding	Benign
22	50722255	G	A	G50722255A	SHANK3	NM_001372044.2(SHANK3):c.4647G>A:p.Trp1549Ter	coding	Pathogenic
22	50722449	G	A	G50722449A	SHANK3	NM_001372044.2(SHANK3):c.4794+12G>A	noncoding	Benign
22	50722591	C	T	C50722591T	SHANK3	NM_001372044.2(SHANK3):c.4794+154C>T	noncoding	Benign
22	50722665	C	T	C50722665T	SHANK3	NM_001372044.2(SHANK3):c.4794+228C>T	noncoding	Benign
22	50730841	C	T	C50730841T	SHANK3	NM_001372044.2(SHANK3):c.4950C>T:p.Ala1650=	coding	Benign
22	50731068	C	T	C50731068T	SHANK3	NM_001372044.2(SHANK3):c.5177C>T:p.Pro1726Leu	coding	Benign/Likely_benign
22	50731100	C	T	C50731100T	SHANK3	NM_001372044.2(SHANK3):c.5209C>T:p.Gln1737Ter	coding	Pathogenic
22	50731202	G	A	G50731202A	SHANK3	NM_033517.1(SHANK3):c.5086G>A:p.Gly1696Ser	coding	Pathogenic
MT	591	C	T	C591T	MT-TF	NC_012920.1(MT-CYB):m.591C>T	noncoding	Pathogenic/Likely_pathogenic
MT	618	T	C	T618C	MT-TF	NC_012920.1(MT-CYB):m.618T>C	noncoding	Pathogenic/Likely_pathogenic
MT	1624	C	T	C1624T	MT-TV	m.1624C>T	noncoding	Pathogenic/Likely_pathogenic
MT	1630	A	G	A1630G	MT-TV	NC_012920.1(MT-CYB):m.1630A>G	noncoding	Pathogenic/Likely_pathogenic
MT	1659	T	C	T1659C	MT-TV	NC_012920.1(MT-CYB):m.1659T>C	noncoding	Pathogenic/Likely_pathogenic
MT	3242	G	A	G3242A	MT-TL1	m.3242G>A	noncoding	Pathogenic/Likely_pathogenic
MT	3693	G	A	G3693A	MT-ND1	NC_012920.1(MT-ND1):m.3693G>A	noncoding	Benign
MT	4296	G	A	G4296A	MT-TI	NC_012920.1(MT-CYB):m.4296G>A	noncoding	Pathogenic/Likely_pathogenic
MT	4769	A	G	A4769G	MT-ND2	NC_012920.1:m.4769A>G	noncoding	Benign
MT	5999	T	C	T5999C	MT-CO1	NC_012920.1(MT-CO1):m.5999T>C	noncoding	Benign
MT	6047	A	G	A6047G	MT-CO1	NC_012920.1(MT-CO1):m.6047A>G	noncoding	Benign
MT	6497	T	C	T6497C	MT-CO1	NC_012920.1(MT-CO1):m.6497T>C	noncoding	Benign
MT	7028	C	T	C7028T	MT-CO1	NC_012920.1(MT-CO1):m.7028C>T	noncoding	Benign
MT	7453	G	A	G7453A	MT-TS1	NC_012920.1(MT-TS1):m.7453G>A	noncoding	Pathogenic/Likely_pathogenic
MT	7566	G	A	G7566A	MT-TD	NC_012920.1(MT-TD):m.7566G>A	noncoding	Pathogenic/Likely_pathogenic
MT	7606	A	G	A7606G	MT-CO2	NC_012920.1(MT-CO2):m.7606A>G	noncoding	Benign
MT	7645	T	C	T7645C	MT-CO2	NC_012920.1(MT-CO2):m.7645T>C	noncoding	Benign
MT	8009	G	A	G8009A	MT-CO2	m.8009G>A	noncoding	Benign
MT	8783	G	A	G8783A	MT-ATP6	NC_012920.1(MT-ATP6):m.8783G>A	noncoding	Pathogenic/Likely_pathogenic
MT	9185	T	C	T9185C	MT-ATP6	NC_012920.1:m.9185T>C	noncoding	Pathogenic
MT	9237	G	A	G9237A	MT-CO3	NC_012920.1:m.9237G>A	noncoding	Pathogenic
MT	10406	G	A	G10406A	MT-TR	NC_012920.1(MT-CYB):m.10406G>A	noncoding	Pathogenic/Likely_pathogenic
MT	12264	C	T	C12264T	MT-TS2	NC_012920.1(MT-CYB):m.12264C>T	noncoding	Pathogenic/Likely_pathogenic
MT	13051	G	A	G13051A	MT-ND5	NC_012920.1:m.13051G>A	noncoding	Pathogenic/Likely_pathogenic
MT	13063	G	A	G13063A	MT-ND5	NC_012920.1(MT-ND5):m.13063G>A	noncoding	Pathogenic/Likely_pathogenic
MT	14753	C	T	C14753T	MT-CYB	NC_012920.1:m.14753C>T	noncoding	Benign
MT	14784	T	C	T14784C	MT-CYB	NC_012920.1:m.14784T>C	noncoding	Benign
MT	14800	C	T	C14800T	MT-CYB	NC_012920.1:m.14800C>T	noncoding	Benign
MT	14935	T	C	T14935C	MT-CYB	NC_012920.1:m.14935T>C	noncoding	Benign
MT	14950	C	T	C14950T	MT-CYB	NC_012920.1:m.14950C>T	noncoding	Benign
MT	14968	T	C	T14968C	MT-CYB	NC_012920.1:m.14968T>C	noncoding	Benign
MT	15049	C	T	C15049T	MT-CYB	NC_012920.1:m.15049C>T	noncoding	Benign
MT	15058	C	T	C15058T	MT-CYB	NC_012920.1:m.15058C>T	noncoding	Benign
MT	15214	T	C	T15214C	MT-CYB	NC_012920.1:m.15214T>C	noncoding	Benign
MT	15259	C	T	C15259T	MT-CYB	NC_012920.1:m.15259C>T	noncoding	Benign
MT	15328	A	G	A15328G	MT-CYB	NC_012920.1:m.15328A>G	noncoding	Benign
MT	15334	C	T	C15334T	MT-CYB	NC_012920.1:m.15334C>T	noncoding	Benign
MT	15349	C	T	C15349T	MT-CYB	NC_012920.1:m.15349C>T	noncoding	Benign
MT	15363	A	G	A15363G	MT-CYB	NC_012920.1:m.15363A>G	noncoding	Benign
MT	15572	T	C	T15572C	MT-CYB	m.15572T>C	noncoding	Benign
MT	15579	A	G	A15579G	MT-CYB	m.15579A>G	noncoding	Pathogenic/Likely_pathogenic
MT	15637	C	T	C15637T	MT-CYB	NC_012920.1:m.15637C>T	noncoding	Benign
MT	15649	A	G	A15649G	MT-CYB	NC_012920.1:m.15649A>G	noncoding	Benign
MT	15682	A	G	A15682G	MT-CYB	NC_012920.1:m.15682A>G	noncoding	Benign
X	624528	G	C	G624528C	SHOX	NM_006883.2(SHOX):c.-507G>C	noncoding	Benign
X	630307	A	G	A630307G	SHOX	NM_006883.2(SHOX):c.-432-159A>G	noncoding	Benign
X	630879	G	A	G630879A	SHOX	NM_000451.4(SHOX):c.-19G>A	noncoding	Pathogenic/Likely_pathogenic
X	630937	C	T	C630937T	SHOX	NM_000451.4(SHOX):c.40C>T:p.Gln14Ter	coding	Pathogenic
X	634616	A	G	A634616G	SHOX	NM_000451.4(SHOX):c.278-2A>G	noncoding	Pathogenic/Likely_pathogenic
X	634619	G	T	G634619T	SHOX	NM_000451.4(SHOX):c.279G>T:p.Gly93=	coding	Benign/Likely_benign
X	634674	C	T	C634674T	SHOX	NM_000451.4(SHOX):c.334C>T:p.Gln112Ter	coding	Pathogenic
X	634675	A	C	A634675C	SHOX	NM_000451.4(SHOX):c.335A>C:p.Gln112Pro	coding	Pathogenic
X	634803	G	C	G634803C	SHOX	NM_000451.4(SHOX):c.463G>C:p.Gly155Arg	coding	Pathogenic
X	634968	G	C	G634968C	SHOX	NM_000451.4(SHOX):c.486+142G>C	noncoding	Benign
X	640852	G	A	G640852A	SHOX	NM_000451.4(SHOX):c.518G>A:p.Arg173His	coding	Pathogenic
X	641001	G	A	G641001A	SHOX	NM_000451.4(SHOX):c.547G>A:p.Val183Ile	coding	Benign/Likely_benign
X	641092	C	G	C641092G	SHOX	NM_000451.4(SHOX):c.633+5C>G	noncoding	Benign
X	644312	A	G	A644312G	SHOX	NM_000451.4(SHOX):c.634-79A>G	noncoding	Benign
X	644427	G	A	G644427A	SHOX	NM_000451.4(SHOX):c.670G>A:p.Ala224Thr	coding	Pathogenic
X	644597	G	C	G644597C	SHOX	NM_000451.4(SHOX):c.840G>C:p.Arg280=	coding	Benign
X	1282485	G	A	G1282485A	CSF2RA	NM_172245.4(CSF2RA):c.-26-193G>A	noncoding	Benign
X	1282541	A	G	A1282541G	CSF2RA	NM_172245.4(CSF2RA):c.-26-137A>G	noncoding	Benign
X	1285732	G	A	G1285732A	CSF2RA	NM_172245.4(CSF2RA):c.77-46G>A	noncoding	Benign
X	1285783	C	T	C1285783T	CSF2RA	NM_172245.4(CSF2RA):c.82C>T:p.Arg28Ter	coding	Pathogenic
X	1285939	T	G	T1285939G	CSF2RA	NM_172245.4(CSF2RA):c.219+19T>G	noncoding	Benign
X	1288484	T	C	T1288484C	CSF2RA	NM_172245.4(CSF2RA):c.220-35T>C	noncoding	Benign
X	1288808	G	A	G1288808A	CSF2RA	NM_172245.4(CSF2RA):c.393G>A:p.Ala131=	coding	Benign
X	1288829	G	A	G1288829A	CSF2RA	NM_172245.4(CSF2RA):c.414G>A:p.Trp138Ter	coding	Pathogenic
X	1288900	C	T	C1288900T	CSF2RA	NM_172245.4(CSF2RA):c.473+12C>T	noncoding	Benign
X	1294315	G	A	G1294315A	CSF2RA	NM_172245.4(CSF2RA):c.647-13G>A	noncoding	Benign
X	1294330	C	T	C1294330T	CSF2RA	NM_172245.4(CSF2RA):c.649C>T:p.Arg217Ter	coding	Pathogenic
X	1294374	G	A	G1294374A	CSF2RA	NM_172245.4(CSF2RA):c.693G>A:p.Thr231=	coding	Benign
X	1294564	C	G	C1294564G	CSF2RA	NM_172245.4(CSF2RA):c.780+103C>G	noncoding	Benign
X	1294596	G	A	G1294596A	CSF2RA	NM_172245.4(CSF2RA):c.780+135G>A	noncoding	Benign
X	1294784	C	G	C1294784G	CSF2RA	NM_172245.4(CSF2RA):c.780+323C>G	noncoding	Benign
X	1300597	G	A	G1300597A	CSF2RA	NM_172245.4(CSF2RA):c.917G>A:p.Trp306Ter	coding	Pathogenic
X	1300639	C	T	C1300639T	CSF2RA	NM_172245.4(CSF2RA):c.946+13C>T	noncoding	Benign
X	1300678	C	G	C1300678G	CSF2RA	NM_172245.4(CSF2RA):c.946+52C>G	noncoding	Benign
X	1300735	C	G	C1300735G	CSF2RA	NM_172245.4(CSF2RA):c.946+109C>G	noncoding	Benign
X	1304050	T	C	T1304050C	CSF2RA	NM_172245.4(CSF2RA):c.1043+31T>C	noncoding	Benign
X	1305372	G	A	G1305372A	CSF2RA	NM_172245.4(CSF2RA):c.1044-74G>A	noncoding	Benign
X	1305544	G	A	G1305544A	CSF2RA	NM_172245.4(CSF2RA):c.1125+17G>A	noncoding	Benign
X	2828794	G	C	G2828794C	GYG2	Single_allele	noncoding	Benign
X	2828821	G	A	G2828821A	GYG2	Single_allele	noncoding	Benign
X	2830010	T	C	T2830010C	GYG2	NM_001079855.2(GYG2):c.-128-51T>C	noncoding	Benign
X	2830251	C	G	C2830251G	GYG2	NM_001079855.2(GYG2):c.7+56C>G	noncoding	Benign
X	2843245	A	C	A2843245C	GYG2	NM_001079855.2(GYG2):c.40A>C:p.Asn14His	coding	Benign/Likely_benign
X	2843417	C	T	C2843417T	GYG2	NM_001079855.2(GYG2):c.149+63C>T	noncoding	Benign
X	2855155	G	A	G2855155A	GYG2	NM_001079855.2(GYG2):c.487G>A:p.Gly163Arg	coding	Benign
X	2856437	A	G	A2856437G	GYG2	NM_001079855.2(GYG2):c.488-61A>G	noncoding	Benign
X	2856659	T	G	T2856659G	GYG2	NM_001079855.2(GYG2):c.614+35T>G	noncoding	Benign
X	2859805	C	T	C2859805T	GYG2	NM_001079855.2(GYG2):c.615-38C>T	noncoding	Benign
X	2860304	T	C	T2860304C	GYG2	NM_001079855.2(GYG2):c.837+239T>C	noncoding	Benign
X	2861293	G	A	G2861293A	GYG2	NM_001079855.2(GYG2):c.838-229G>A	noncoding	Benign
X	2861834	C	T	C2861834T	GYG2	NM_001079855.2(GYG2):c.1038+112C>T	noncoding	Benign
X	2881438	A	T	A2881438T	GYG2	NM_001079855.2(GYG2):c.*225A>T	noncoding	Benign
X	2917996	G	C	G2917996C	ARSD	NM_001669.4(ARSD):c.671C>G:p.Ser224Cys	coding	Benign
X	2935242	G	A	G2935242A	ARSL	NM_000047.3(ARSL):c.1412-52C>T	noncoding	Benign
X	2938125	C	T	C2938125T	ARSL	NM_000047.3(ARSL):c.1259G>A:p.Arg420Gln	coding	Benign
X	2938185	G	A	G2938185A	ARSL	NM_000047.3(ARSL):c.1199C>T:p.Pro400Leu	coding	Benign
X	2943423	A	C	A2943423C	ARSL	NM_000047.3(ARSL):c.992-224T>G	noncoding	Benign
X	2946073	T	C	T2946073C	ARSL	NM_000047.3(ARSL):c.916A>G:p.Thr306Ala	coding	Pathogenic
X	2946149	G	A	G2946149A	ARSL	NM_000047.3(ARSL):c.855-15C>T	noncoding	Benign
X	2952970	G	C	G2952970C	ARSL	NM_000047.3(ARSL):c.430+173C>G	noncoding	Benign
X	2953005	A	G	A2953005G	ARSL	NM_000047.3(ARSL):c.430+138T>C	noncoding	Benign
X	2953433	G	A	G2953433A	ARSL	NM_000047.3(ARSL):c.308-168C>T	noncoding	Benign
X	2953490	T	C	T2953490C	ARSL	NM_000047.3(ARSL):c.308-225A>G	noncoding	Benign
X	2955507	G	A	G2955507A	ARSL	NM_000047.3(ARSL):c.216C>T:p.Asp72=	coding	Benign
X	2958149	C	A	C2958149A	ARSL	NM_000047.3(ARSL):c.185+125G>T	noncoding	Benign
X	2958461	G	A	G2958461A	ARSL	NM_000047.3(ARSL):c.24-26C>T	noncoding	Benign
X	2958642	G	T	G2958642T	ARSL	NM_000047.3(ARSL):c.24-207C>A	noncoding	Benign
X	2959691	C	T	C2959691T	ARSL	NM_000047.3(ARSL):c.23+687G>A	coding	Benign
X	2960361	A	G	A2960361G	ARSL	NM_000047.3(ARSL):c.23+17T>C	noncoding	Benign/Likely_benign
X	3310370	G	A	G3310370A	MXRA5	NM_015419.4(MXRA5):c.7833C>T:p.Ala2611=	coding	Benign
X	3310622	G	C	G3310622C	MXRA5	NM_015419.4(MXRA5):c.7581C>G:p.Ala2527=	coding	Benign
X	3310850	A	G	A3310850G	MXRA5	NM_015419.4(MXRA5):c.7353T>C:p.Thr2451=	coding	Benign
X	3311171	C	T	C3311171T	MXRA5	NM_015419.4(MXRA5):c.7032G>A:p.Ala2344=	coding	Benign
X	3317683	C	T	C3317683T	MXRA5	NM_015419.4(MXRA5):c.5998G>A:p.Gly2000Ser	coding	Benign
X	3322302	G	A	G3322302A	MXRA5	NM_015419.4(MXRA5):c.3383C>T:p.Ala1128Val	coding	Benign
X	3323009	G	A	G3323009A	MXRA5	NM_015419.4(MXRA5):c.2676C>T:p.Ser892=	coding	Benign
X	5892533	C	T	C5892533T	NLGN4X	NM_181332.3(NLGN4X):c.*284G>A	noncoding	Benign
X	5892643	G	T	G5892643T	NLGN4X	NM_181332.3(NLGN4X):c.*174C>A	noncoding	Benign
X	5892715	C	T	C5892715T	NLGN4X	NM_181332.3(NLGN4X):c.*102G>A	noncoding	Benign
X	5893766	A	G	A5893766G	NLGN4X	NM_181332.3(NLGN4X):c.1602-100T>C	noncoding	Benign
X	5893924	T	C	T5893924C	NLGN4X	NM_181332.3(NLGN4X):c.1602-258A>G	noncoding	Benign
X	5902920	G	T	G5902920T	NLGN4X	NM_181332.3(NLGN4X):c.1601+157C>A	noncoding	Benign
X	5902948	G	A	G5902948A	NLGN4X	NM_181332.3(NLGN4X):c.1601+129C>T	noncoding	Benign
X	7219197	C	T	C7219197T	STS	NM_001320752.2(STS):c.-5+28189C>T	noncoding	Benign
X	7219687	G	C	G7219687C	STS	NM_001320752.2(STS):c.-5+28679G>C	coding	Pathogenic
X	7252884	C	G	C7252884G	STS	NM_001320752.2(STS):c.-4-312C>G	noncoding	Benign
X	7259333	C	T	C7259333T	STS	NM_001320752.2(STS):c.383-16C>T	noncoding	Benign
X	7276048	G	A	G7276048A	STS	NM_001320752.2(STS):c.904G>A:p.Val302Ile	coding	Benign
X	7325093	G	C	G7325093C	STS	NM_001320752.2(STS):c.1082-246G>C	noncoding	Benign
X	7325263	G	A	G7325263A	STS	NM_001320752.2(STS):c.1082-76G>A	noncoding	Benign
X	7325414	G	C	G7325414C	STS	NM_001320752.2(STS):c.1157G>C:p.Gly386Ala	coding	Benign
X	7325513	G	C	G7325513C	STS	NM_001320752.2(STS):c.1241+15G>C	noncoding	Benign
X	7334393	G	A	G7334393A	STS	NM_001320752.2(STS):c.1363+286G>A	noncoding	Benign
X	7334396	G	A	G7334396A	STS	NM_001320752.2(STS):c.1363+289G>A	noncoding	Benign
X	8532935	G	A	G8532935A	ANOS1	NM_000216.4(ANOS1):c.*60C>T	noncoding	Benign
X	8533079	C	A	C8533079A	ANOS1	NM_000216.4(ANOS1):c.1985-26G>T	noncoding	Benign
X	8533252	C	T	C8533252T	ANOS1	NM_000216.4(ANOS1):c.1985-199G>A	noncoding	Benign
X	8534047	G	A	G8534047A	ANOS1	NM_000216.4(ANOS1):c.1984+272C>T	noncoding	Benign
X	8535667	C	T	C8535667T	ANOS1	NM_000216.4(ANOS1):c.1766G>A:p.Trp589Ter	coding	Pathogenic
X	8535677	G	A	G8535677A	ANOS1	NM_000216.4(ANOS1):c.1756C>T:p.Gln586Ter	coding	Pathogenic
X	8539744	G	A	G8539744A	ANOS1	NM_000216.4(ANOS1):c.1369C>T:p.Arg457Ter	coding	Pathogenic/Likely_pathogenic
X	8554057	G	A	G8554057A	ANOS1	NM_000216.4(ANOS1):c.1249C>T:p.Gln417Ter	coding	Pathogenic
X	8568296	T	A	T8568296A	ANOS1	NM_000216.4(ANOS1):c.1143A>T:p.Gly381=	coding	Benign
X	8570371	G	A	G8570371A	ANOS1	NM_000216.4(ANOS1):c.1062+128C>T	noncoding	Benign
X	8570402	C	A	C8570402A	ANOS1	NM_000216.4(ANOS1):c.1062+97G>T	noncoding	Benign
X	8570752	A	T	A8570752T	ANOS1	NM_000216.4(ANOS1):c.857-48T>A	noncoding	Benign
X	8585309	G	A	G8585309A	ANOS1	NM_000216.4(ANOS1):c.814C>T:p.Arg272Ter	coding	Pathogenic
X	8585388	G	A	G8585388A	ANOS1	NM_000216.4(ANOS1):c.735C>T:p.Asp245=	coding	Benign
X	8585506	T	C	T8585506C	ANOS1	NM_000216.4(ANOS1):c.727-110A>G	noncoding	Benign
X	8587934	G	A	G8587934A	ANOS1	NM_000216.4(ANOS1):c.586C>T:p.Gln196Ter	coding	Pathogenic
X	8587949	G	A	G8587949A	ANOS1	NM_000216.4(ANOS1):c.571C>T:p.Arg191Ter	coding	Pathogenic
X	8597060	C	T	C8597060T	ANOS1	NM_000216.4(ANOS1):c.515G>A:p.Cys172Tyr	coding	Pathogenic
X	8699693	C	T	C8699693T	ANOS1	NM_000216.4(ANOS1):c.255+5G>A	noncoding	Pathogenic/Likely_pathogenic
X	8732404	T	C	T8732404C	ANOS1	Single_allele	noncoding	Benign
X	8732509	G	A	G8732509A	ANOS1	Single_allele	noncoding	Benign
X	9683799	T	A	T9683799A	TBL1X	NM_005647.4(TBL1X):c.212-244T>A	noncoding	Benign
X	9687883	C	T	C9687883T	TBL1X	NM_005647.4(TBL1X):c.358-134C>T	noncoding	Benign
X	9687887	G	A	G9687887A	TBL1X	NM_005647.4(TBL1X):c.358-130G>A	noncoding	Benign
X	9691726	G	A	G9691726A	TBL1X	NM_005647.4(TBL1X):c.749+15G>A	noncoding	Benign
X	9693125	G	T	G9693125T	TBL1X	NM_005647.4(TBL1X):c.892-24G>T	noncoding	Benign
X	9697328	C	A	C9697328A	TBL1X	NM_005647.4(TBL1X):c.1054-41C>A	noncoding	Benign
X	9697441	G	T	G9697441T	TBL1X	NM_005647.4(TBL1X):c.1114+12G>T	noncoding	Benign
X	9709559	G	A	G9709559A	TBL1X	NM_005647.4(TBL1X):c.1312-74G>A	noncoding	Benign
X	9715208	C	T	C9715208T	TBL1X	NM_005647.4(TBL1X):c.1707+205C>T	noncoding	Benign
X	9725612	G	A	G9725612A	GPR143	NM_000273.3(GPR143):c.*134C>T	noncoding	Benign
X	9725768	A	G	A9725768G	GPR143	NM_000273.3(GPR143):c.1193T>C:p.Leu398Pro	coding	Benign
X	9725806	T	G	T9725806G	GPR143	NM_000273.3(GPR143):c.1155A>C:p.Ala385=	coding	Benign
X	9739470	C	A	C9739470A	GPR143	NM_000273.3(GPR143):c.1120+15G>T	noncoding	Benign
X	9739574	G	A	G9739574A	GPR143	NM_000273.3(GPR143):c.1031C>T:p.Pro344Leu	coding	Benign
X	9739600	C	T	C9739600T	GPR143	NM_000273.3(GPR143):c.1005G>A:p.Ser335=	coding	Benign
X	9739721	T	A	T9739721A	GPR143	NM_000273.3(GPR143):c.886-2A>T	noncoding	Pathogenic
X	9740590	C	T	C9740590T	GPR143	NM_000273.3(GPR143):c.885+748G>A	noncoding	Pathogenic
X	9743599	G	A	G9743599A	GPR143	NM_000273.3(GPR143):c.733C>T:p.Arg245Ter	coding	Pathogenic
X	9743650	G	A	G9743650A	GPR143	NM_000273.3(GPR143):c.682C>T:p.Gln228Ter	coding	Pathogenic
X	9745824	A	G	A9745824G	GPR143	NM_000273.3(GPR143):c.658+220T>C	noncoding	Benign
X	9746043	C	A	C9746043A	GPR143	NM_000273.3(GPR143):c.658+1G>T	noncoding	Pathogenic
X	9746105	G	T	G9746105T	GPR143	NM_000273.3(GPR143):c.597C>A:p.Tyr199Ter	coding	Pathogenic
X	9748414	C	G	C9748414G	GPR143	NM_000273.3(GPR143):c.548+160G>C	noncoding	Benign
X	9748582	G	A	G9748582A	GPR143	NM_000273.3(GPR143):c.540C>T:p.Ser180=	coding	Benign
X	9759312	C	T	C9759312T	GPR143	NM_000273.3(GPR143):c.455+20G>A	noncoding	Benign
X	9759323	G	A	G9759323A	GPR143	NM_000273.3(GPR143):c.455+9C>T	noncoding	Benign
X	9759428	T	G	T9759428G	GPR143	NM_000273.3(GPR143):c.361-2A>C	noncoding	Pathogenic
X	9760481	C	T	C9760481T	GPR143	NM_000273.3(GPR143):c.360+236G>A	noncoding	Benign
X	9760548	C	T	C9760548T	GPR143	NM_000273.3(GPR143):c.360+169G>A	noncoding	Benign
X	9760715	A	G	A9760715G	GPR143	NM_000273.3(GPR143):c.360+2T>C	noncoding	Pathogenic
X	9760717	C	T	C9760717T	GPR143	NM_000273.3(GPR143):c.360G>A:p.Ala120=	coding	Pathogenic
X	9760744	C	G	C9760744G	GPR143	NM_000273.3(GPR143):c.333G>C:p.Trp111Cys	coding	Benign
X	9760783	A	G	A9760783G	GPR143	NM_000273.3(GPR143):c.294T>C:p.Phe98=	coding	Benign/Likely_benign
X	9760796	C	G	C9760796G	GPR143	NM_000273.3(GPR143):c.281G>C:p.Gly94Ala	coding	Benign
X	9760813	C	T	C9760813T	GPR143	NM_000273.3(GPR143):c.264G>A:p.Arg88=	coding	Benign
X	9760961	G	A	G9760961A	GPR143	NM_000273.3(GPR143):c.251-135C>T	noncoding	Benign
X	9765348	G	A	G9765348A	GPR143	NM_000273.3(GPR143):c.250+220C>T	noncoding	Benign
X	9765554	G	C	G9765554C	GPR143	NM_000273.3(GPR143):c.250+14C>G	noncoding	Benign
X	9765745	G	A	G9765745A	GPR143	NM_000273.3(GPR143):c.73C>T:p.Gln25Ter	coding	Pathogenic
X	9765809	G	A	G9765809A	GPR143	NM_000273.3(GPR143):c.9C>T:p.Ser3=	coding	Benign
X	9765817	T	C	T9765817C	GPR143	NM_000273.3(GPR143):c.1A>G:p.Met1Val	coding	Pathogenic
X	10185083	C	T	C10185083T	CLCN4	NM_001830.4(CLCN4):c.51C>T:p.Leu17=	coding	Benign
X	10185144	G	T	G10185144T	CLCN4	NM_001830.4(CLCN4):c.112G>T:p.Glu38Ter	coding	Pathogenic
X	10185334	A	G	A10185334G	CLCN4	NM_001830.4(CLCN4):c.144+158A>G	noncoding	Benign
X	10187343	G	A	G10187343A	CLCN4	NM_001830.4(CLCN4):c.145-172G>A	noncoding	Benign
X	10187511	C	A	C10187511A	CLCN4	NM_001830.4(CLCN4):c.145-4C>A	noncoding	Benign/Likely_benign
X	10187632	C	T	C10187632T	CLCN4	NM_001830.4(CLCN4):c.244+18C>T	noncoding	Benign
X	10194939	C	T	C10194939T	CLCN4	NM_001830.4(CLCN4):c.273C>T:p.Ala91=	coding	Benign/Likely_benign
X	10195023	C	T	C10195023T	CLCN4	NM_001830.4(CLCN4):c.357C>T:p.Asn119=	coding	Benign
X	10195085	T	C	T10195085C	CLCN4	NM_001830.4(CLCN4):c.419T>C:p.Val140Ala	coding	Benign
X	10195127	G	A	G10195127A	CLCN4	NM_001830.4(CLCN4):c.432+29G>A	noncoding	Benign
X	10195138	G	A	G10195138A	CLCN4	NM_001830.4(CLCN4):c.432+40G>A	noncoding	Benign
X	10195217	C	T	C10195217T	CLCN4	NM_001830.4(CLCN4):c.432+119C>T	noncoding	Benign
X	10197957	C	T	C10197957T	CLCN4	NM_001830.4(CLCN4):c.451C>T:p.Leu151=	coding	Benign
X	10197969	A	T	A10197969T	CLCN4	NM_001830.4(CLCN4):c.463A>T:p.Met155Leu	coding	Benign
X	10198158	A	C	A10198158C	CLCN4	NM_001830.4(CLCN4):c.555+97A>C	noncoding	Benign
X	10206099	G	A	G10206099A	CLCN4	NM_001830.4(CLCN4):c.556-259G>A	noncoding	Benign
X	10206346	C	T	C10206346T	CLCN4	NM_001830.4(CLCN4):c.556-12C>T	noncoding	Benign
X	10206713	G	A	G10206713A	CLCN4	NM_001830.4(CLCN4):c.780G>A:p.Ala260=	coding	Benign
X	10207882	C	T	C10207882T	CLCN4	NM_001830.4(CLCN4):c.844-163C>T	noncoding	Benign
X	10208076	G	A	G10208076A	CLCN4	NM_001830.4(CLCN4):c.875G>A:p.Trp292Ter	coding	Pathogenic
X	10208176	G	A	G10208176A	CLCN4	NM_001830.4(CLCN4):c.975G>A:p.Thr325=	coding	Benign/Likely_benign
X	10208253	G	A	G10208253A	CLCN4	NM_001830.4(CLCN4):c.1052G>A:p.Arg351His	coding	Benign
X	10208264	G	A	G10208264A	CLCN4	NM_001830.4(CLCN4):c.1063G>A:p.Ala355Thr	coding	Benign
X	10208376	A	G	A10208376G	CLCN4	NM_001830.4(CLCN4):c.1175A>G:p.Gln392Arg	coding	Benign
X	10208560	C	T	C10208560T	CLCN4	NM_001830.4(CLCN4):c.1359C>T:p.Ile453=	coding	Benign
X	10208670	G	A	G10208670A	CLCN4	NM_001830.4(CLCN4):c.1389+80G>A	noncoding	Benign
X	10208741	A	G	A10208741G	CLCN4	NM_001830.4(CLCN4):c.1389+151A>G	noncoding	Benign
X	10212259	C	T	C10212259T	CLCN4	NM_001830.4(CLCN4):c.1390-208C>T	noncoding	Benign
X	10212409	C	T	C10212409T	CLCN4	NM_001830.4(CLCN4):c.1390-58C>T	noncoding	Benign
X	10212456	G	A	G10212456A	CLCN4	NM_001830.4(CLCN4):c.1390-11G>A	noncoding	Benign
X	10212457	T	A	T10212457A	CLCN4	NM_001830.4(CLCN4):c.1390-10T>A	noncoding	Benign
X	10212514	G	A	G10212514A	CLCN4	NM_001830.4(CLCN4):c.1437G>A:p.Ala479=	coding	Benign
X	10212567	G	A	G10212567A	CLCN4	NM_001830.4(CLCN4):c.1490G>A:p.Trp497Ter	coding	Pathogenic
X	10212809	C	T	C10212809T	CLCN4	NM_001830.4(CLCN4):c.1576+156C>T	noncoding	Benign
X	10212840	G	C	G10212840C	CLCN4	NM_001830.4(CLCN4):c.1576+187G>C	noncoding	Benign
X	10213700	G	A	G10213700A	CLCN4	NM_001830.4(CLCN4):c.1596G>A:p.Thr532=	coding	Benign
X	10213835	C	T	C10213835T	CLCN4	NM_001830.4(CLCN4):c.1731C>T:p.His577=	coding	Benign
X	10213923	C	T	C10213923T	CLCN4	NM_001830.4(CLCN4):c.1819C>T:p.Pro607Ser	coding	Benign/Likely_benign
X	10213975	C	T	C10213975T	CLCN4	NM_001830.4(CLCN4):c.1871C>T:p.Thr624Met	coding	Benign/Likely_benign
X	10214009	C	T	C10214009T	CLCN4	NM_001830.4(CLCN4):c.1905C>T:p.Pro635=	coding	Benign/Likely_benign
X	10214373	T	C	T10214373C	CLCN4	NM_001830.4(CLCN4):c.1975+294T>C	noncoding	Benign
X	10220689	T	C	T10220689C	CLCN4	NM_001830.4(CLCN4):c.2004T>C:p.Ile668=	coding	Benign
X	10220715	C	T	C10220715T	CLCN4	NM_001830.4(CLCN4):c.2030C>T:p.Thr677Met	coding	Benign/Likely_benign
X	10220737	G	A	G10220737A	CLCN4	NM_001830.4(CLCN4):c.2052G>A:p.Pro684=	coding	Benign
X	10220878	G	T	G10220878T	CLCN4	NM_001830.4(CLCN4):c.2192+1G>T	coding	Pathogenic
X	10220887	C	T	C10220887T	CLCN4	NM_001830.4(CLCN4):c.2192+10C>T	noncoding	Benign
X	10233740	A	G	A10233740G	CLCN4	NM_001830.4(CLCN4):c.*156A>G	noncoding	Benign
X	10460026	A	G	A10460026G	MID1	NM_000381.4(MID1):c.1286-219T>C	noncoding	Benign
X	10469412	G	A	G10469412A	MID1	NM_000381.4(MID1):c.1285+285C>T	coding	Benign
X	10469415	T	G	T10469415G	MID1	NM_000381.4(MID1):c.1285+282A>C	coding	Benign
X	10469550	C	G	C10469550G	MID1	NM_000381.4(MID1):c.1285+147G>C	coding	Benign
X	10469760	C	A	C10469760A	MID1	NM_000381.4(MID1):c.1222G>T:p.Glu408Ter	coding	Pathogenic
X	10469928	C	T	C10469928T	MID1	NM_000381.4(MID1):c.1142-88G>A	noncoding	Benign
X	10482759	A	G	A10482759G	MID1	NM_000381.4(MID1):c.865-131T>C	noncoding	Benign
X	10495833	T	G	T10495833G	MID1	NM_000381.4(MID1):c.757-142A>C	noncoding	Benign
X	10506473	C	T	C10506473T	MID1	NM_000381.4(MID1):c.757-10782G>A	coding	Benign
X	10523193	C	A	C10523193A	MID1	NM_000381.4(MID1):c.661-6G>T	noncoding	Benign
X	10567798	A	G	A10567798G	MID1	NM_000381.4(MID1):c.-56-195T>C	noncoding	Benign
X	11116968	G	A	G11116968A	HCCS	NM_005333.5(HCCS):c.253-299G>A	noncoding	Benign
X	11118170	A	G	A11118170G	HCCS	NM_005333.5(HCCS):c.402-331A>G	noncoding	Benign
X	11294477	A	T	A11294477T	AMELX	NM_001142.2(AMELX):c.-12-300A>T	noncoding	Benign
X	11294907	T	C	T11294907C	AMELX	NM_001142.2(AMELX):c.54+65T>C	noncoding	Benign
X	11296514	G	A	G11296514A	AMELX	NM_001142.2(AMELX):c.55-265G>A	noncoding	Benign
X	11299131	G	A	G11299131A	AMELX	NM_001142.2(AMELX):c.570+158G>A	noncoding	Benign
X	11300828	T	C	T11300828C	AMELX	NM_013427.3(ARHGAP6):c.589-46121A>G	noncoding	Benign
X	11762855	C	T	C11762855T	MSL3	NM_078629.4(MSL3):c.607C>T:p.Gln203Ter	coding	Pathogenic
X	11765731	T	A	T11765731A	MSL3	NM_078629.4(MSL3):c.1171+2T>A	coding	Pathogenic
X	11772706	G	A	G11772706A	MSL3	NM_078629.4(MSL3):c.1466+1G>A	coding	Pathogenic/Likely_pathogenic
X	12706846	G	A	G12706846A	FRMPD4	NM_001368397.1(FRMPD4):c.1218G>A:p.Lys406=	coding	Benign/Likely_benign
X	12707582	C	G	C12707582G	FRMPD4	NM_001368397.1(FRMPD4):c.1401C>G:p.Val467=	coding	Benign
X	12716466	T	C	T12716466C	FRMPD4	NM_001368397.1(FRMPD4):c.2007T>C:p.Leu669=	coding	Benign
X	12716715	C	T	C12716715T	FRMPD4	NM_001368397.1(FRMPD4):c.2256C>T:p.Asp752=	coding	Benign
X	12885590	A	G	A12885590G	TLR7	NM_016562.4(TLR7):c.82A>G:p.Arg28Gly	coding	Pathogenic
X	12886298	T	C	T12886298C	TLR7	NM_016562.4(TLR7):c.790T>C:p.Tyr264His	coding	Pathogenic
X	12887029	T	G	T12887029G	TLR7	NM_016562.4(TLR7):c.1521T>G:p.Phe507Leu	coding	Pathogenic
X	12920522	C	A	C12920522A	TLR8	NM_138636.5(TLR8):c.1482C>A:p.Phe494Leu	coding	Pathogenic
X	12920755	G	A	G12920755A	TLR8	NM_138636.5(TLR8):c.1715G>A:p.Gly572Asp	coding	Pathogenic
X	12920755	G	T	G12920755T	TLR8	NM_138636.5(TLR8):c.1715G>T:p.Gly572Val	coding	Pathogenic
X	13714466	G	A	G13714466A	TRAPPC2	NM_001011658.4(TRAPPC2):c.364C>T:p.Arg122Ter	coding	Pathogenic
X	13714775	G	C	G13714775C	TRAPPC2	NM_001011658.4(TRAPPC2):c.325-270C>G	noncoding	Benign
X	13716109	A	T	A13716109T	TRAPPC2	NM_001011658.4(TRAPPC2):c.239-20T>A	noncoding	Benign
X	13716420	T	C	T13716420C	TRAPPC2	NM_001011658.4(TRAPPC2):c.238+114A>G	noncoding	Benign
X	13716661	C	T	C13716661T	TRAPPC2	NM_001011658.4(TRAPPC2):c.111G>A:p.Leu37=	coding	Benign
X	13719600	C	T	C13719600T	TRAPPC2	NM_001011658.4(TRAPPC2):c.93+271G>A	noncoding	Benign
X	13735099	C	T	C13735099T	OFD1	NM_003611.3(OFD1):c.12+16C>T	noncoding	Benign
X	13735111	G	C	G13735111C	OFD1	NM_003611.3(OFD1):c.12+28G>C	noncoding	Benign/Likely_benign
X	13735162	T	G	T13735162G	OFD1	NM_003611.3(OFD1):c.12+79T>G	noncoding	Benign
X	13736415	C	T	C13736415T	OFD1	NM_003611.3(OFD1):c.112-63C>T	noncoding	Benign
X	13736884	G	T	G13736884T	OFD1	NM_003611.3(OFD1):c.312+206G>T	noncoding	Benign
X	13738941	A	G	A13738941G	OFD1	NM_003611.3(OFD1):c.381+27A>G	noncoding	Benign
X	13739002	G	C	G13739002C	OFD1	NM_003611.3(OFD1):c.382G>C:p.Val128Leu	coding	Benign
X	13744434	A	G	A13744434G	OFD1	NM_003611.3(OFD1):c.432A>G:p.Leu144=	coding	Benign/Likely_benign
X	13744453	C	T	C13744453T	OFD1	NM_003611.3(OFD1):c.451C>T:p.His151Tyr	coding	Benign/Likely_benign
X	13744539	T	C	T13744539C	OFD1	NM_003611.3(OFD1):c.517+20T>C	noncoding	Benign/Likely_benign
X	13746496	T	C	T13746496C	OFD1	NM_003611.3(OFD1):c.654+41T>C	noncoding	Benign
X	13746640	G	C	G13746640C	OFD1	NM_003611.3(OFD1):c.655-140G>C	noncoding	Benign
X	13746748	G	C	G13746748C	OFD1	NM_003611.3(OFD1):c.655-32G>C	noncoding	Benign
X	13746800	C	G	C13746800G	OFD1	NM_003611.3(OFD1):c.675C>G:p.Thr225=	coding	Benign/Likely_benign
X	13746905	C	T	C13746905T	OFD1	NM_003611.3(OFD1):c.780C>T:p.Leu260=	coding	Benign
X	13746906	G	A	G13746906A	OFD1	NM_003611.3(OFD1):c.781G>A:p.Val261Ile	coding	Benign
X	13746913	G	A	G13746913A	OFD1	NM_003611.3(OFD1):c.788G>A:p.Arg263Gln	coding	Benign/Likely_benign
X	13746920	G	A	G13746920A	OFD1	NM_003611.3(OFD1):c.795G>A:p.Lys265=	coding	Benign
X	13747004	G	A	G13747004A	OFD1	NM_003611.3(OFD1):c.828+51G>A	noncoding	Benign
X	13749456	G	A	G13749456A	OFD1	NM_003611.3(OFD1):c.858G>A:p.Arg286=	coding	Benign/Likely_benign
X	13749545	A	G	A13749545G	OFD1	NM_003611.3(OFD1):c.935+12A>G	noncoding	Benign/Likely_benign
X	13749599	A	G	A13749599G	OFD1	NM_003611.3(OFD1):c.935+66A>G	noncoding	Benign
X	13750051	A	G	A13750051G	OFD1	NM_003611.3(OFD1):c.935+518A>G	noncoding	Benign
X	13750169	A	G	A13750169G	OFD1	NM_003611.3(OFD1):c.935+636A>G	noncoding	Benign
X	13750196	C	T	C13750196T	OFD1	NM_003611.3(OFD1):c.935+663C>T	noncoding	Benign
X	13751297	T	G	T13751297G	OFD1	NM_003611.3(OFD1):c.984T>G:p.Leu328=	coding	Benign
X	13751343	C	T	C13751343T	OFD1	NM_003611.3(OFD1):c.1030C>T:p.Arg344Ter	coding	Pathogenic
X	13751632	A	G	A13751632G	OFD1	NM_003611.3(OFD1):c.1055+264A>G	noncoding	Benign
X	13753675	A	G	A13753675G	OFD1	NM_003611.3(OFD1):c.1129+234A>G	noncoding	Benign
X	13754879	A	G	A13754879G	OFD1	NM_003611.3(OFD1):c.1130-272A>G	noncoding	Benign
X	13754976	C	T	C13754976T	OFD1	NM_003611.3(OFD1):c.1130-175C>T	noncoding	Benign
X	13756627	A	G	A13756627G	OFD1	NM_003611.3(OFD1):c.1271A>G:p.Asn424Ser	coding	Benign
X	13756650	A	G	A13756650G	OFD1	NM_003611.3(OFD1):c.1294A>G:p.Lys432Glu	coding	Benign
X	13756722	C	T	C13756722T	OFD1	NM_003611.3(OFD1):c.1366C>T:p.Gln456Ter	coding	Pathogenic
X	13756756	G	A	G13756756A	OFD1	NM_003611.3(OFD1):c.1400G>A:p.Arg467His	coding	Benign
X	13756768	G	A	G13756768A	OFD1	NM_003611.3(OFD1):c.1411+1G>A	coding	Pathogenic
X	13757708	G	A	G13757708A	OFD1	NM_003611.3(OFD1):c.1460G>A:p.Arg487Gln	coding	Benign/Likely_benign
X	13757727	A	C	A13757727C	OFD1	NM_003611.3(OFD1):c.1479A>C:p.Ile493=	coding	Benign
X	13757811	G	A	G13757811A	OFD1	NM_003611.3(OFD1):c.1542+21G>A	noncoding	Benign
X	13758318	C	G	C13758318G	OFD1	NM_003611.3(OFD1):c.1543-19C>G	noncoding	Benign/Likely_benign
X	13758462	T	A	T13758462A	OFD1	NM_003611.3(OFD1):c.1654+14T>A	noncoding	Benign/Likely_benign
X	13759926	A	G	A13759926G	OFD1	NM_003611.3(OFD1):c.1655-189A>G	noncoding	Benign
X	13760026	T	C	T13760026C	OFD1	NM_003611.3(OFD1):c.1655-89T>C	noncoding	Benign
X	13760163	G	A	G13760163A	OFD1	NM_003611.3(OFD1):c.1703G>A:p.Arg568His	coding	Benign
X	13760297	A	G	A13760297G	OFD1	NM_003611.3(OFD1):c.1837A>G:p.Thr613Ala	coding	Benign
X	13760577	C	T	C13760577T	OFD1	NM_003611.3(OFD1):c.2117C>T:p.Thr706Ile	coding	Benign
X	13760728	A	G	A13760728G	OFD1	NM_003611.3(OFD1):c.2260+8A>G	noncoding	Benign/Likely_benign
X	13760732	G	A	G13760732A	OFD1	NM_003611.3(OFD1):c.2260+12G>A	noncoding	Benign
X	13760735	C	G	C13760735G	OFD1	NM_003611.3(OFD1):c.2260+15C>G	noncoding	Benign
X	13761005	G	A	G13761005A	OFD1	NM_003611.3(OFD1):c.2261-80G>A	noncoding	Benign
X	13761129	A	G	A13761129G	OFD1	NM_003611.3(OFD1):c.2305A>G:p.Arg769Gly	coding	Benign
X	13761460	C	A	C13761460A	OFD1	NM_003611.3(OFD1):c.2387+249C>A	noncoding	Benign
X	13762306	A	G	A13762306G	OFD1	NM_003611.3(OFD1):c.2388-38A>G	noncoding	Benign
X	13762457	A	G	A13762457G	OFD1	NM_003611.3(OFD1):c.2488+13A>G	noncoding	Benign/Likely_benign
X	13763728	A	C	A13763728C	OFD1	NM_003611.3(OFD1):c.2489-17A>C	noncoding	Benign
X	13763779	C	T	C13763779T	OFD1	NM_003611.3(OFD1):c.2523C>T:p.Gly841=	coding	Benign/Likely_benign
X	13763815	C	T	C13763815T	OFD1	NM_003611.3(OFD1):c.2559C>T:p.Asp853=	coding	Benign
X	13763889	G	A	G13763889A	OFD1	NM_003611.3(OFD1):c.2599+34G>A	noncoding	Benign
X	13768129	C	T	C13768129T	OFD1	NM_003611.3(OFD1):c.2833C>T:p.Gln945Ter	coding	Pathogenic
X	13768742	G	A	G13768742A	OFD1	NM_003611.3(OFD1):c.2953G>A:p.Gly985Ser	coding	Benign
X	13768781	G	A	G13768781A	OFD1	NM_003611.3(OFD1):c.2992G>A:p.Glu998Lys	coding	Benign
X	13769096	C	T	C13769096T	OFD1	NM_003611.3(OFD1):c.3027C>T:p.Asp1009=	coding	Benign
X	13769155	G	A	G13769155A	OFD1	NM_003611.3(OFD1):c.*47G>A	noncoding	Benign
X	14581319	A	G	A14581319G	GLRA2	NM_002063.4(GLRA2):c.407A>G:p.Asn136Ser	coding	Pathogenic
X	14581370	G	A	G14581370A	GLRA2	NM_002063.4(GLRA2):c.458G>A:p.Arg153Gln	coding	Pathogenic
X	14690691	G	C	G14690691C	GLRA2	NM_002063.4(GLRA2):c.931-19G>C	noncoding	Benign
X	14690828	G	T	G14690828T	GLRA2	NM_002063.4(GLRA2):c.1049G>T:p.Arg350Leu	coding	Pathogenic
X	14843282	T	C	T14843282C	FANCB	Single_allele	noncoding	Benign
X	14843594	A	G	A14843594G	FANCB	NM_001018113.3(FANCB):c.2553T>C:p.Phe851=	coding	Benign
X	14843712	T	C	T14843712C	FANCB	NM_001018113.3(FANCB):c.2435A>G:p.Tyr812Cys	coding	Benign/Likely_benign
X	14843756	G	A	G14843756A	FANCB	NM_001018113.3(FANCB):c.2391C>T:p.Val797=	coding	Benign
X	14843882	T	C	T14843882C	FANCB	NM_001018113.3(FANCB):c.2265A>G:p.Leu755=	coding	Benign/Likely_benign
X	14844157	T	C	T14844157C	FANCB	NM_001018113.3(FANCB):c.2166-176A>G	noncoding	Benign
X	14844167	A	G	A14844167G	FANCB	NM_001018113.3(FANCB):c.2166-186T>C	noncoding	Benign
X	14844365	T	C	T14844365C	FANCB	NM_001018113.3(FANCB):c.2165+138A>G	noncoding	Benign
X	14845346	G	A	G14845346A	FANCB	NM_001018113.3(FANCB):c.1497-60C>T	noncoding	Benign
X	14850564	C	T	C14850564T	FANCB	NM_001018113.3(FANCB):c.1437G>A:p.Trp479Ter	coding	Pathogenic
X	14850746	G	T	G14850746T	FANCB	NM_001018113.3(FANCB):c.1327-72C>A	noncoding	Benign
X	14857910	T	C	T14857910C	FANCB	NM_001018113.3(FANCB):c.1149A>G:p.Lys383=	coding	Benign
X	14864431	T	G	T14864431G	FANCB	NM_001018113.3(FANCB):c.951+129A>C	noncoding	Benign
X	14864730	G	A	G14864730A	FANCB	NM_001018113.3(FANCB):c.781C>T:p.Arg261Ter	coding	Pathogenic
X	14864737	G	C	G14864737C	FANCB	NM_001018113.3(FANCB):c.774C>G:p.Ala258=	coding	Benign
X	14865400	A	G	A14865400G	FANCB	NM_001018113.3(FANCB):c.111T>C:p.Pro37=	coding	Benign
X	14865724	T	C	T14865724C	FANCB	NM_001018113.3(FANCB):c.-70-144A>G	noncoding	Benign
X	14865826	G	A	G14865826A	FANCB	NM_001018113.3(FANCB):c.-70-246C>T	noncoding	Benign
X	15321466	C	T	C15321466T	PIGA	NM_002641.4(PIGA):c.*40G>A	noncoding	Benign
X	15321558	T	C	T15321558C	PIGA	NM_002641.4(PIGA):c.1403A>G:p.Tyr468Cys	coding	Benign
X	15321609	A	G	A15321609G	PIGA	NM_002641.4(PIGA):c.1352T>C:p.Ile451Thr	coding	Pathogenic/Likely_pathogenic
X	15324664	C	T	C15324664T	PIGA	NM_002641.4(PIGA):c.1188+1G>A	noncoding	Pathogenic
X	15324665	C	T	C15324665T	PIGA	NM_002641.4(PIGA):c.1188G>A:p.Lys396=	coding	Benign/Likely_benign
X	15324714	A	G	A15324714G	PIGA	NM_002641.4(PIGA):c.1139T>C:p.Ile380Thr	coding	Benign
X	15325124	T	C	T15325124C	PIGA	NM_002641.4(PIGA):c.877A>G:p.Lys293Glu	coding	Benign
X	15326073	G	T	G15326073T	PIGA	NM_002641.4(PIGA):c.716-27C>A	noncoding	Benign
X	15331551	G	A	G15331551A	PIGA	NM_002641.4(PIGA):c.380C>T:p.Ser127Leu	coding	Pathogenic
X	15331562	C	T	C15331562T	PIGA	NM_002641.4(PIGA):c.369G>A:p.Thr123=	coding	Benign/Likely_benign
X	15331581	A	G	A15331581G	PIGA	NM_002641.4(PIGA):c.350T>C:p.Phe117Ser	coding	Pathogenic
X	15331624	C	T	C15331624T	PIGA	NM_002641.4(PIGA):c.307G>A:p.Ala103Thr	coding	Benign/Likely_benign
X	15331839	C	T	C15331839T	PIGA	NM_002641.4(PIGA):c.92G>A:p.Arg31His	coding	Benign
X	15845153	T	C	T15845153C	AP1S2	NM_001272071.2(AP1S2):c.426+226A>G	noncoding	Benign
X	15845173	T	C	T15845173C	AP1S2	NM_001272071.2(AP1S2):c.426+206A>G	noncoding	Benign
X	15845186	A	G	A15845186G	AP1S2	NM_001272071.2(AP1S2):c.426+193T>C	noncoding	Benign
X	15845830	A	T	A15845830T	AP1S2	NM_001272071.2(AP1S2):c.288+73T>A	noncoding	Benign
X	15852334	C	A	C15852334A	AP1S2	NM_001272071.2(AP1S2):c.179+12G>T	noncoding	Benign
X	15852457	G	C	G15852457C	AP1S2	NM_001272071.2(AP1S2):c.68C>G:p.Ser23Ter	coding	Pathogenic
X	15852471	C	T	C15852471T	AP1S2	NM_001272071.2(AP1S2):c.54G>A:p.Trp18Ter	coding	Pathogenic
X	15852526	T	C	T15852526C	AP1S2	NM_001272071.2(AP1S2):c.1-2A>G	noncoding	Pathogenic
X	15854461	C	G	C15854461G	AP1S2	NM_001272071.2(AP1S2):c.-1+227G>C	noncoding	Benign
X	16124195	G	A	G16124195A	GRPR	NM_005314.3(GRPR):c.242G>A:p.Ser81Asn	coding	Benign/Likely_benign
X	16678424	C	G	C16678424G	CTPS2	NM_175859.3(CTPS2):c.1032G>C:p.Lys344Asn	coding	Benign
X	17375203	G	A	G17375203A	NHS	NM_001291867.2(NHS):c.-555G>A	noncoding	Benign
X	17376015	A	G	A17376015G	NHS	NM_001291867.2(NHS):c.258A>G:p.Gly86=	coding	Benign
X	17376079	G	A	G17376079A	NHS	NM_001291867.2(NHS):c.322G>A:p.Glu108Lys	coding	Benign
X	17635360	C	A	C17635360A	NHS	NM_001291867.2(NHS):c.566-52382C>A	coding	Benign
X	17635479	C	G	C17635479G	NHS	NM_001291867.2(NHS):c.566-52263C>G	coding	Benign
X	17719324	T	C	T17719324C	NHS	NM_001291867.2(NHS):c.853-20T>C	noncoding	Benign
X	17724349	C	T	C17724349T	NHS	NM_001291867.2(NHS):c.1159C>T:p.Gln387Ter	coding	Pathogenic
X	17726025	C	T	C17726025T	NHS	NM_001291867.2(NHS):c.1919C>T:p.Thr640Met	coding	Benign
X	17726225	G	T	G17726225T	NHS	NM_001291867.2(NHS):c.2119G>T:p.Ala707Ser	coding	Benign
X	17726897	G	T	G17726897T	NHS	NM_001291867.2(NHS):c.2791G>T:p.Asp931Tyr	coding	Benign
X	17728188	C	T	C17728188T	NHS	NM_001291867.2(NHS):c.4082C>T:p.Ser1361Leu	coding	Benign/Likely_benign
X	17728741	C	T	C17728741T	NHS	NM_001291867.2(NHS):c.4315C>T:p.Arg1439Ter	coding	Pathogenic
X	17732445	C	T	C17732445T	NHS	NM_001291867.2(NHS):c.4937C>T:p.Ser1646Phe	coding	Benign/Likely_benign
X	18425714	A	C	A18425714C	CDKL5	NM_001323289.2(CDKL5):c.-163+19A>C	noncoding	Benign
X	18442160	A	G	A18442160G	CDKL5	NM_001323289.2(CDKL5):c.-163+16465A>G	noncoding	Benign
X	18506832	C	G	C18506832G	CDKL5	NM_001323289.2(CDKL5):c.-162-103C>G	noncoding	Benign
X	18507155	G	T	G18507155T	CDKL5	NM_001323289.2(CDKL5):c.59G>T:p.Gly20Val	coding	Pathogenic
X	18507179	G	A	G18507179A	CDKL5	NM_001323289.2(CDKL5):c.64+19G>A	noncoding	Benign
X	18564333	A	G	A18564333G	CDKL5	NM_001323289.2(CDKL5):c.100-144A>G	noncoding	Benign
X	18564523	G	A	G18564523A	CDKL5	NM_001323289.2(CDKL5):c.145+1G>A	coding	Pathogenic
X	18575402	G	C	G18575402C	CDKL5	NM_001323289.2(CDKL5):c.194G>C:p.Arg65Pro	coding	Pathogenic
X	18575413	C	T	C18575413T	CDKL5	NM_001323289.2(CDKL5):c.205C>T:p.Gln69Ter	coding	Pathogenic
X	18575425	G	A	G18575425A	CDKL5	NM_001323289.2(CDKL5):c.217G>A:p.Val73Met	coding	Pathogenic
X	18575457	A	G	A18575457G	CDKL5	NM_001323289.2(CDKL5):c.249A>G:p.Gly83=	coding	Benign
X	18575488	A	T	A18575488T	CDKL5	NM_001323289.2(CDKL5):c.280A>T:p.Lys94Ter	coding	Pathogenic
X	18579834	T	C	T18579834C	CDKL5	NM_001323289.2(CDKL5):c.283-14T>C	noncoding	Benign
X	18579855	T	C	T18579855C	CDKL5	NM_001323289.2(CDKL5):c.290T>C:p.Leu97Pro	coding	Pathogenic/Likely_pathogenic
X	18579856	C	T	C18579856T	CDKL5	NM_001323289.2(CDKL5):c.291C>T:p.Leu97=	coding	Benign
X	18579857	G	T	G18579857T	CDKL5	NM_001323289.2(CDKL5):c.292G>T:p.Glu98Ter	coding	Pathogenic
X	18579945	A	G	A18579945G	CDKL5	NM_001323289.2(CDKL5):c.380A>G:p.His127Arg	coding	Pathogenic
X	18581786	T	G	T18581786G	CDKL5	NM_001323289.2(CDKL5):c.404-105T>G	noncoding	Benign
X	18581899	C	G	C18581899G	CDKL5	NM_001323289.2(CDKL5):c.412C>G:p.Pro138Ala	coding	Pathogenic
X	18581958	A	G	A18581958G	CDKL5	NM_001323289.2(CDKL5):c.463+8A>G	noncoding	Benign
X	18583965	A	T	A18583965T	CDKL5	NM_001323289.2(CDKL5):c.464-298A>T	noncoding	Benign
X	18584326	G	A	G18584326A	CDKL5	NM_001323289.2(CDKL5):c.527G>A:p.Trp176Ter	coding	Pathogenic/Likely_pathogenic
X	18584344	T	C	T18584344C	CDKL5	NM_001323289.2(CDKL5):c.545T>C:p.Leu182Pro	coding	Pathogenic
X	18584357	A	G	A18584357G	CDKL5	NM_001323289.2(CDKL5):c.554+4A>G	noncoding	Pathogenic
X	18584358	G	A	G18584358A	CDKL5	NM_001323289.2(CDKL5):c.554+5G>A	noncoding	Pathogenic
X	18587984	G	A	G18587984A	CDKL5	NM_001323289.2(CDKL5):c.585G>A:p.Trp195Ter	coding	Pathogenic
X	18588002	T	C	T18588002C	CDKL5	NM_001323289.2(CDKL5):c.603T>C:p.Leu201=	coding	Benign/Likely_benign
X	18588003	G	T	G18588003T	CDKL5	NM_001323289.2(CDKL5):c.604G>T:p.Gly202Trp	coding	Pathogenic
X	18588019	G	T	G18588019T	CDKL5	NM_001323289.2(CDKL5):c.620G>T:p.Gly207Val	coding	Pathogenic
X	18595347	G	T	G18595347T	CDKL5	NM_001323289.2(CDKL5):c.745-1G>T	noncoding	Pathogenic
X	18598466	T	C	T18598466C	CDKL5	NM_001323289.2(CDKL5):c.830T>C:p.Leu277Ser	coding	Pathogenic
X	18598620	A	G	A18598620G	CDKL5	NM_001323289.2(CDKL5):c.977+7A>G	noncoding	Benign
X	18603901	G	A	G18603901A	CDKL5	NM_001323289.2(CDKL5):c.978-1G>A	noncoding	Pathogenic
X	18604012	A	G	A18604012G	CDKL5	NM_001323289.2(CDKL5):c.1088A>G:p.Asn363Ser	coding	Benign
X	18604022	C	T	C18604022T	CDKL5	NM_001323289.2(CDKL5):c.1098C>T:p.Phe366=	coding	Benign/Likely_benign
X	18604346	C	T	C18604346T	CDKL5	NM_001323289.2(CDKL5):c.1422C>T:p.Pro474=	coding	Benign/Likely_benign
X	18604450	C	T	C18604450T	CDKL5	NM_001323289.2(CDKL5):c.1526C>T:p.Ala509Val	coding	Benign/Likely_benign
X	18604472	C	A	C18604472A	CDKL5	NM_001323289.2(CDKL5):c.1548C>A:p.Tyr516Ter	coding	Pathogenic
X	18604537	C	T	C18604537T	CDKL5	NM_001323289.2(CDKL5):c.1613C>T:p.Thr538Met	coding	Benign/Likely_benign
X	18604742	A	G	A18604742G	CDKL5	NM_001323289.2(CDKL5):c.1818A>G:p.Gln606=	coding	Benign/Likely_benign
X	18604816	T	C	T18604816C	CDKL5	NM_001323289.2(CDKL5):c.1892T>C:p.Ile631Thr	coding	Benign
X	18604851	C	T	C18604851T	CDKL5	NM_001323289.2(CDKL5):c.1927C>T:p.Gln643Ter	coding	Pathogenic
X	18608888	C	G	C18608888G	CDKL5	NM_001323289.2(CDKL5):c.2022C>G:p.Ser674=	coding	Benign/Likely_benign
X	18613156	A	T	A18613156T	CDKL5	NM_001323289.2(CDKL5):c.2157A>T:p.Pro719=	coding	Benign/Likely_benign
X	18613255	A	G	A18613255G	CDKL5	NM_001323289.2(CDKL5):c.2256A>G:p.Arg752=	coding	Benign
X	18613287	G	C	G18613287C	CDKL5	NM_001323289.2(CDKL5):c.2276+12G>C	noncoding	Benign
X	18619961	C	T	C18619961T	CDKL5	NM_001323289.2(CDKL5):c.2371C>T:p.Gln791Ter	coding	Pathogenic
X	18628354	C	T	C18628354T	CDKL5	NM_001323289.2(CDKL5):c.2497-17C>T	noncoding	Benign
X	18628455	C	T	C18628455T	CDKL5	NM_001323289.2(CDKL5):c.2581C>T:p.Pro861Ser	coding	Benign
X	18628554	G	A	G18628554A	CDKL5	NM_001323289.2(CDKL5):c.2680G>A:p.Ala894Thr	coding	Benign/Likely_benign
X	18628716	C	T	C18628716T	CDKL5	NM_001323289.2(CDKL5):c.2842C>T:p.Arg948Ter	noncoding	Pathogenic
X	18642024	A	G	A18642024G	RS1	NM_000330.4(RS1):c.655T>C:p.Cys219Arg	coding	Pathogenic/Likely_pathogenic
X	18642035	T	A	T18642035A	RS1	NM_000330.4(RS1):c.644A>T:p.Glu215Val	coding	Pathogenic
X	18642060	G	C	G18642060C	RS1	NM_000330.4(RS1):c.619C>G:p.His207Asp	coding	Pathogenic
X	18642079	G	A	G18642079A	RS1	NM_000330.4(RS1):c.600C>T:p.Arg200_Leu201=	coding	Benign
X	18642082	G	T	G18642082T	RS1	NM_000330.4(RS1):c.597C>A:p.Ile199_Arg200=	coding	Benign/Likely_benign
X	18642102	G	A	G18642102A	RS1	NM_000330.4(RS1):c.577C>T:p.Pro193Ser	coding	Pathogenic/Likely_pathogenic
X	18642135	G	A	G18642135A	RS1	NM_000330.4(RS1):c.544C>T:p.Arg182Cys	coding	Pathogenic/Likely_pathogenic
X	18642174	A	G	A18642174G	RS1	NM_000330.4(RS1):c.523-18T>C	noncoding	Benign
X	18644364	T	G	T18644364G	RS1	NM_000330.4(RS1):c.522+66A>C	noncoding	Benign
X	18644425	C	T	C18644425T	CDKL5;RS1	NM_000330.4(RS1):c.522+5G>A	noncoding	Pathogenic
X	18644428	A	T	A18644428T	RS1	NM_000330.4(RS1):c.522+2T>A	noncoding	Pathogenic
X	18644454	G	T	G18644454T	RS1	NM_000330.4(RS1):c.498C>A:p.Tyr166Ter	coding	Pathogenic/Likely_pathogenic
X	18644486	T	C	T18644486C	RS1	NM_000330.4(RS1):c.466A>G:p.Arg156Gly	coding	Pathogenic
X	18644491	T	C	T18644491C	RS1	NM_000330.4(RS1):c.461A>G:p.Gln154Arg	coding	Pathogenic
X	18644533	C	T	C18644533T	RS1	NM_000330.4(RS1):c.419G>A:p.Gly140Glu	coding	Pathogenic
X	18644545	A	G	A18644545G	RS1	NM_000330.4(RS1):c.407T>C:p.Ile136Thr	coding	Pathogenic
X	18644582	G	A	G18644582A	RS1	NM_000330.4(RS1):c.370C>T:p.Gln124Ter	coding	Pathogenic
X	18644603	G	A	G18644603A	RS1	NM_000330.4(RS1):c.349C>T:p.Gln117Ter	coding	Pathogenic
X	18644615	G	A	G18644615A	RS1	NM_000330.4(RS1):c.337C>T:p.Leu113Phe	coding	Pathogenic/Likely_pathogenic
X	18644620	G	A	G18644620A	RS1	NM_000330.4(RS1):c.332C>T:p.Ala111Val	coding	Pathogenic
X	18644620	G	T	G18644620T	RS1	NM_000330.4(RS1):c.332C>A:p.Ala111Asp	coding	Pathogenic
X	18644630	C	T	C18644630T	RS1	NM_000330.4(RS1):c.327-5G>A	noncoding	Benign
X	18646008	C	T	C18646008T	CDKL5	NM_000330.4(RS1):c.326+1183G>A	coding	Benign
X	18646106	C	T	C18646106T	CDKL5	NM_000330.4(RS1):c.326+1085G>A	noncoding	Benign/Likely_benign
X	18647177	C	T	C18647177T	RS1	NM_000330.4(RS1):c.326+14G>A	noncoding	Benign
X	18647189	A	C	A18647189C	RS1	NM_000330.4(RS1):c.326+2T>G	noncoding	Pathogenic
X	18647190	C	A	C18647190A	RS1	NM_000330.4(RS1):c.326+1G>T	noncoding	Pathogenic
X	18647215	G	A	G18647215A	RS1	NM_000330.4(RS1):c.302C>T:p.Ala101Val	coding	Pathogenic
X	18647230	C	T	C18647230T	CDKL5;RS1	NM_000330.4(RS1):c.287G>A:p.Trp96Ter	coding	Pathogenic
X	18647302	T	C	T18647302C	RS1	NM_000330.4(RS1):c.215A>G:p.Glu72Gly	coding	Pathogenic
X	18647482	T	G	T18647482G	RS1	NM_000330.4(RS1):c.185-150A>C	noncoding	Benign
X	18650483	A	G	A18650483G	CDKL5	NM_000330.4(RS1):c.185-3151T>C	coding	Benign
X	18650612	C	T	C18650612T	CDKL5	NM_000330.4(RS1):c.185-3280G>A	noncoding	Benign/Likely_benign
X	18650613	G	C	G18650613C	CDKL5	NM_000330.4(RS1):c.185-3281C>G	noncoding	Benign/Likely_benign
X	18653454	C	T	C18653454T	CDKL5	NM_000330.4(RS1):c.184+3199G>A	coding	Benign
X	18653535	G	A	G18653535A	CDKL5	NM_000330.4(RS1):c.184+3118C>T	coding	Benign
X	18653675	A	G	A18653675G	CDKL5	NM_000330.4(RS1):c.184+2978T>C	noncoding	Benign
X	18653676	T	A	T18653676A	CDKL5	NM_000330.4(RS1):c.184+2977A>T	noncoding	Benign
X	18656524	A	C	A18656524C	RS1	NM_000330.4(RS1):c.184+129T>G	noncoding	Benign
X	18656618	A	G	A18656618G	RS1	NM_000330.4(RS1):c.184+35T>C	noncoding	Benign
X	18656662	A	T	A18656662T	RS1	NM_000330.4(RS1):c.175T>A:p.Cys59Ser	coding	Pathogenic
X	18656687	C	A	C18656687A	RS1	NM_000330.4(RS1):c.150G>T:p.Trp50Cys	coding	Benign
X	18656688	C	T	C18656688T	RS1	NM_000330.4(RS1):c.149G>A:p.Trp50Ter	coding	Pathogenic
X	18656739	C	T	C18656739T	RS1	NM_000330.4(RS1):c.98G>A:p.Trp33Ter	coding	Pathogenic
X	18657634	A	T	A18657634T	RS1	NM_000330.4(RS1):c.78+6T>A	noncoding	Benign
X	18657638	A	G	A18657638G	RS1	NM_000330.4(RS1):c.78+2T>C	noncoding	Pathogenic
X	18657639	C	T	C18657639T	RS1	NM_000330.4(RS1):c.78+1G>A	noncoding	Pathogenic
X	18657666	C	T	C18657666T	RS1	NM_000330.4(RS1):c.53-1G>A	coding	Pathogenic/Likely_pathogenic
X	18894212	G	A	G18894212A	PHKA2	NM_000292.3(PHKA2):c.3529C>T:p.Gln1177Ter	coding	Pathogenic
X	18895062	G	A	G18895062A	PHKA2	NM_000292.3(PHKA2):c.3336+76C>T	noncoding	Benign
X	18895147	C	T	C18895147T	PHKA2	NM_000292.3(PHKA2):c.3327G>A:p.Thr1109=	coding	Benign
X	18897347	A	G	A18897347G	PHKA2	NM_000292.3(PHKA2):c.3112-14T>C	noncoding	Benign
X	18897394	G	A	G18897394A	PHKA2	NM_000292.3(PHKA2):c.3112-61C>T	noncoding	Benign
X	18905900	G	A	G18905900A	PHKA2	NM_000292.3(PHKA2):c.2807-41C>T	noncoding	Benign
X	18906798	C	A	C18906798A	PHKA2	NM_000292.3(PHKA2):c.2614G>T:p.Glu872Ter	coding	Pathogenic
X	18907047	C	A	C18907047A	PHKA2	NM_000292.3(PHKA2):c.2568G>T:p.Pro856=	coding	Benign/Likely_benign
X	18907825	G	A	G18907825A	PHKA2	NM_000292.3(PHKA2):c.2517+75C>T	noncoding	Benign
X	18919092	A	G	A18919092G	PHKA2	NM_000292.3(PHKA2):c.1964-238T>C	noncoding	Benign
X	18920273	C	T	C18920273T	PHKA2	NM_000292.3(PHKA2):c.1794-72G>A	noncoding	Benign
X	18924038	A	T	A18924038T	PHKA2	NM_000292.3(PHKA2):c.1793+18T>A	noncoding	Benign/Likely_benign
X	18924516	G	C	G18924516C	PHKA2	NM_000292.3(PHKA2):c.1579C>G:p.Gln527Glu	coding	Benign/Likely_benign
X	18925929	G	A	G18925929A	PHKA2	NM_000292.3(PHKA2):c.1460-152C>T	noncoding	Benign
X	18925991	A	G	A18925991G	PHKA2	NM_000292.3(PHKA2):c.1460-214T>C	noncoding	Benign
X	18929103	C	T	C18929103T	PHKA2	NM_000292.3(PHKA2):c.1324+125G>A	noncoding	Benign
X	18929227	C	T	C18929227T	PHKA2	NM_000292.3(PHKA2):c.1324+1G>A	noncoding	Pathogenic
X	18929318	G	A	G18929318A	PHKA2	NM_000292.3(PHKA2):c.1246-12C>T	noncoding	Benign/Likely_benign
X	18931676	G	A	G18931676A	PHKA2	NM_000292.3(PHKA2):c.1210C>T:p.Gln404Ter	coding	Pathogenic
X	18936167	T	C	T18936167C	PHKA2	NM_000292.3(PHKA2):c.1042-17A>G	noncoding	Benign/Likely_benign
X	18936266	G	A	G18936266A	PHKA2	NM_000292.3(PHKA2):c.1042-116C>T	noncoding	Benign
X	18939049	T	C	T18939049C	PHKA2	NM_000292.3(PHKA2):c.919-300A>G	noncoding	Benign
X	18940030	G	A	G18940030A	PHKA2	NM_000292.3(PHKA2):c.883C>T:p.Arg295Cys	coding	Pathogenic
X	18943923	A	T	A18943923T	PHKA2	NM_000292.3(PHKA2):c.619-115T>A	noncoding	Benign
X	18952629	T	C	T18952629C	PHKA2	NM_000292.3(PHKA2):c.238-88A>G	noncoding	Benign
X	18954357	C	T	C18954357T	PHKA2	NM_000292.3(PHKA2):c.134G>A:p.Arg45Gln	coding	Pathogenic/Likely_pathogenic
X	19343733	G	T	G19343733T	PDHA1	Single_allele	noncoding	Benign
X	19346685	A	G	A19346685G	PDHA1	NM_000284.4(PDHA1):c.57+2591A>G	noncoding	Benign
X	19346754	T	A	T19346754A	PDHA1	NM_000284.4(PDHA1):c.58-2558T>A	noncoding	Benign
X	19349052	A	C	A19349052C	PDHA1	NM_000284.4(PDHA1):c.58-260A>C	noncoding	Benign
X	19349323	G	A	G19349323A	PDHA1	NM_000284.4(PDHA1):c.69G>A:p.Val23=	coding	Benign/Likely_benign
X	19349861	G	A	G19349861A	PDHA1	NM_000284.4(PDHA1):c.118-76G>A	noncoding	Benign
X	19349920	A	G	A19349920G	PDHA1	NM_000284.4(PDHA1):c.118-17A>G	noncoding	Benign/Likely_benign
X	19350036	C	A	C19350036A	PDHA1	NM_000284.4(PDHA1):c.217C>A:p.Arg73=	coding	Benign
X	19350162	C	T	C19350162T	PDHA1	NM_000284.4(PDHA1):c.291+52C>T	noncoding	Benign
X	19351254	T	G	T19351254G	PDHA1	NM_000284.4(PDHA1):c.292-27T>G	noncoding	Benign
X	19351270	C	T	C19351270T	PDHA1	NM_000284.4(PDHA1):c.292-11C>T	coding	Benign
X	19351316	C	T	C19351316T	PDHA1	NM_000284.4(PDHA1):c.327C>T:p.Asn109=	coding	Benign
X	19351379	C	T	C19351379T	PDHA1	NM_000284.4(PDHA1):c.390C>T:p.Ser130=	coding	Benign
X	19351415	G	A	G19351415A	PDHA1	NM_000284.4(PDHA1):c.418+8G>A	noncoding	Benign
X	19353161	C	T	C19353161T	PDHA1	NM_000284.4(PDHA1):c.498C>T:p.Ile166=	coding	Pathogenic
X	19353162	G	A	G19353162A	PDHA1	NM_000284.4(PDHA1):c.499G>A:p.Val167Met	coding	Pathogenic/Likely_pathogenic
X	19355437	C	G	C19355437G	PDHA1	NM_000284.4(PDHA1):c.692C>G:p.Thr231Arg	coding	Pathogenic/Likely_pathogenic
X	19355453	G	A	G19355453A	PDHA1	NM_000284.4(PDHA1):c.708G>A:p.Ala236=	coding	Benign
X	19355473	A	G	A19355473G	PDHA1	NM_000284.4(PDHA1):c.728A>G:p.Tyr243Cys	coding	Pathogenic
X	19355513	A	G	A19355513G	PDHA1	NM_000284.4(PDHA1):c.759+9A>G	noncoding	Benign
X	19355714	G	C	G19355714C	PDHA1	NM_000284.4(PDHA1):c.788G>C:p.Arg263Pro	coding	Pathogenic
X	19355849	C	G	C19355849G	PDHA1	NM_000284.4(PDHA1):c.831+92C>G	noncoding	Benign
X	19355968	C	T	C19355968T	PDHA1	NM_000284.4(PDHA1):c.831+211C>T	noncoding	Benign
X	19357592	C	T	C19357592T	PDHA1	NM_000284.4(PDHA1):c.832-60C>T	noncoding	Benign
X	19357721	T	A	T19357721A	PDHA1	NM_000284.4(PDHA1):c.899+2T>A	noncoding	Pathogenic
X	19357729	T	C	T19357729C	PDHA1	NM_000284.4(PDHA1):c.899+10T>C	noncoding	Benign
X	19358577	C	T	C19358577T	PDHA1	NM_000284.4(PDHA1):c.900-339C>T	noncoding	Benign
X	19359031	T	G	T19359031G	PDHA1	NM_000284.4(PDHA1):c.1008+7T>G	noncoding	Benign
X	19359075	C	T	C19359075T	PDHA1	NM_000284.4(PDHA1):c.1008+51C>T	noncoding	Benign
X	19359480	A	C	A19359480C	PDHA1	NM_000284.4(PDHA1):c.1009-9A>C	noncoding	Benign
X	19359545	C	T	C19359545T	PDHA1	NM_000284.4(PDHA1):c.1065C>T:p.Ala355=	coding	Benign
X	19359580	A	C	A19359580C	PDHA1	NM_000284.4(PDHA1):c.1100A>C:p.His367Pro	coding	Pathogenic/Likely_pathogenic
X	19359580	A	T	A19359580T	PDHA1	NM_000284.4(PDHA1):c.1100A>T:p.His367Leu	coding	Pathogenic
X	19359593	C	T	C19359593T	PDHA1	NM_000284.4(PDHA1):c.1113C>T:p.Ser371=	coding	Benign
X	19359650	T	C	T19359650C	PDHA1	NM_000284.4(PDHA1):c.1170T>C:p.Ser390=	coding	Benign
X	19537724	C	T	C19537724T	SH3KBP1	NM_031892.3(SH3KBP1):c.1949G>A:p.Arg650Gln	coding	Benign
X	19541911	C	T	C19541911T	SH3KBP1	NM_031892.3(SH3KBP1):c.1892+14G>A	noncoding	Benign
X	19541987	C	T	C19541987T	SH3KBP1	NM_031892.3(SH3KBP1):c.1830G>A:p.Glu610=	coding	Benign
X	19542011	C	T	C19542011T	SH3KBP1	NM_031892.3(SH3KBP1):c.1806G>A:p.Ala602=	coding	Benign/Likely_benign
X	19542038	C	T	C19542038T	SH3KBP1	NM_031892.3(SH3KBP1):c.1779G>A:p.Thr593=	coding	Benign
X	19542044	G	A	G19542044A	SH3KBP1	NM_031892.3(SH3KBP1):c.1773C>T:p.Phe591=	coding	Benign
X	19542053	C	T	C19542053T	SH3KBP1	NM_031892.3(SH3KBP1):c.1764G>A:p.Pro588=	coding	Benign
X	19542136	C	T	C19542136T	SH3KBP1	NM_031892.3(SH3KBP1):c.1681G>A:p.Gly561Ser	coding	Benign
X	19550058	T	C	T19550058C	SH3KBP1	NM_031892.3(SH3KBP1):c.1410A>G:p.Val470=	coding	Benign
X	19569092	T	C	T19569092C	SH3KBP1	NM_031892.3(SH3KBP1):c.1384+11A>G	noncoding	Benign
X	19588657	C	T	C19588657T	SH3KBP1	NM_031892.3(SH3KBP1):c.1284G>A:p.Pro428=	coding	Benign
X	19588675	C	T	C19588675T	SH3KBP1	NM_031892.3(SH3KBP1):c.1266G>A:p.Pro422=	coding	Benign
X	19592055	T	C	T19592055C	SH3KBP1	NM_031892.3(SH3KBP1):c.1138+12A>G	noncoding	Benign
X	19594977	T	G	T19594977G	SH3KBP1	NM_031892.3(SH3KBP1):c.1029A>C:p.Pro343=	coding	Benign
X	19607959	C	T	C19607959T	SH3KBP1	NM_031892.3(SH3KBP1):c.984G>A:p.Pro328=	coding	Benign
X	19631851	A	C	A19631851C	SH3KBP1	NM_031892.3(SH3KBP1):c.897+13T>G	noncoding	Benign
X	19631965	G	T	G19631965T	SH3KBP1	NM_031892.3(SH3KBP1):c.803-7C>A	noncoding	Benign
X	19695655	C	T	C19695655T	SH3KBP1	NM_031892.3(SH3KBP1):c.477G>A:p.Ser159=	coding	Benign
X	19695709	G	A	G19695709A	SH3KBP1	NM_031892.3(SH3KBP1):c.423C>T:p.Asn141=	coding	Benign
X	19706866	G	A	G19706866A	SH3KBP1	NM_031892.3(SH3KBP1):c.390+15C>T	noncoding	Benign
X	19706944	G	A	G19706944A	SH3KBP1	NM_031892.3(SH3KBP1):c.327C>T:p.Tyr109=	coding	Benign
X	19836200	G	A	G19836200A	SH3KBP1	NM_031892.3(SH3KBP1):c.87C>T:p.Ile29=	coding	Benign
X	20155127	A	G	A20155127G	RPS6KA3	NM_004586.3(RPS6KA3):c.*271T>C	noncoding	Benign
X	20155435	C	T	C20155435T	RPS6KA3	NM_004586.3(RPS6KA3):c.2186G>A:p.Arg729Gln	coding	Pathogenic/Likely_pathogenic
X	20155576	A	G	A20155576G	RPS6KA3	NM_004586.3(RPS6KA3):c.2101-56T>C	noncoding	Benign
X	20156136	G	A	G20156136A	RPS6KA3	NM_004586.3(RPS6KA3):c.2073C>T:p.Asn691=	coding	Benign
X	20161719	T	A	T20161719A	RPS6KA3	NM_004586.3(RPS6KA3):c.1884A>T:p.Glu628Asp	coding	Benign/Likely_benign
X	20164744	C	T	C20164744T	RPS6KA3	NM_004586.3(RPS6KA3):c.1764+155G>A	noncoding	Benign
X	20165002	G	A	G20165002A	RPS6KA3	NM_004586.3(RPS6KA3):c.1661C>T:p.Pro554Leu	coding	Pathogenic
X	20167604	A	C	A20167604C	RPS6KA3	NM_004586.3(RPS6KA3):c.1587T>G:p.Tyr529Ter	coding	Pathogenic
X	20167821	G	A	G20167821A	RPS6KA3	NM_004586.3(RPS6KA3):c.1444-74C>T	noncoding	Benign
X	20175496	T	G	T20175496G	RPS6KA3	NM_004586.3(RPS6KA3):c.1103-208A>C	noncoding	Benign
X	20176354	T	C	T20176354C	RPS6KA3	NM_004586.3(RPS6KA3):c.1000-2A>G	noncoding	Pathogenic
X	20176446	C	T	C20176446T	RPS6KA3	NM_004586.3(RPS6KA3):c.987G>A:p.Thr329=	coding	Benign
X	20186075	G	A	G20186075A	RPS6KA3	NM_004586.3(RPS6KA3):c.845+221C>T	noncoding	Benign
X	20186324	G	A	G20186324A	RPS6KA3	NM_004586.3(RPS6KA3):c.817C>T:p.Arg273Ter	coding	Pathogenic
X	20187522	G	A	G20187522A	RPS6KA3	NM_004586.3(RPS6KA3):c.774+306C>T	noncoding	Benign
X	20187738	A	C	A20187738C	RPS6KA3	NM_004586.3(RPS6KA3):c.774+90T>G	noncoding	Benign
X	20187800	T	C	T20187800C	RPS6KA3	NM_004586.3(RPS6KA3):c.774+28A>G	noncoding	Benign
X	20187972	T	G	T20187972G	RPS6KA3	NM_004586.3(RPS6KA3):c.632-2A>C	noncoding	Pathogenic
X	20188166	C	T	C20188166T	RPS6KA3	NM_004586.3(RPS6KA3):c.632-196G>A	noncoding	Benign
X	20188479	C	T	C20188479T	RPS6KA3	NM_004586.3(RPS6KA3):c.631+18G>A	noncoding	Benign
X	20194243	A	C	A20194243C	RPS6KA3	NM_004586.3(RPS6KA3):c.432T>G:p.Tyr144Ter	coding	Pathogenic
X	20195489	C	T	C20195489T	RPS6KA3	NM_004586.3(RPS6KA3):c.326-344G>A	noncoding	Benign
X	20204367	C	A	C20204367A	RPS6KA3	NM_004586.3(RPS6KA3):c.244-264G>T	noncoding	Benign
X	20209319	A	C	A20209319C	RPS6KA3	NM_004586.3(RPS6KA3):c.212T>G:p.Leu71Ter	coding	Pathogenic/Likely_pathogenic
X	21516521	C	T	C21516521T	CNKSR2	NM_014927.5(CNKSR2):c.847C>T:p.Arg283Ter	coding	Pathogenic
X	21531999	T	A	T21531999A	CNKSR2	NM_014927.5(CNKSR2):c.1235T>A:p.Leu412Ter	coding	Pathogenic
X	21591099	A	T	A21591099T	CNKSR2	NM_014927.5(CNKSR2):c.1735A>T:p.Lys579Ter	coding	Pathogenic
X	21595322	A	G	A21595322G	CNKSR2	NM_014927.5(CNKSR2):c.1905-2A>G	noncoding	Pathogenic
X	21601346	C	T	C21601346T	CNKSR2	NM_014927.5(CNKSR2):c.2041C>T:p.Gln681Ter	coding	Pathogenic
X	21609261	C	G	C21609261G	CNKSR2	NM_014927.5(CNKSR2):c.2336C>G:p.Ser779Ter	coding	Pathogenic
X	21609274	T	G	T21609274G	CNKSR2	NM_014927.5(CNKSR2):c.2349T>G:p.Tyr783Ter	coding	Pathogenic
X	21737597	C	T	C21737597T	SMPX	NM_014332.3(SMPX):c.233G>A:p.Ser78Asn	coding	Pathogenic
X	21737721	C	T	C21737721T	SMPX	NM_014332.3(SMPX):c.133-24G>A	noncoding	Benign
X	21737978	T	A	T21737978A	SMPX	NM_014332.3(SMPX):c.133-281A>T	noncoding	Benign
X	21743752	C	A	C21743752A	SMPX	NM_014332.3(SMPX):c.130G>T:p.Glu44Ter	coding	Pathogenic
X	21743803	G	C	G21743803C	SMPX	NM_014332.3(SMPX):c.79C>G:p.Pro27Ala	coding	Pathogenic
X	21744101	C	A	C21744101A	SMPX	NM_014332.3(SMPX):c.46-265G>T	noncoding	Benign
X	21754253	G	A	G21754253A	SMPX	NM_014332.3(SMPX):c.38C>T:p.Ala13Val	coding	Pathogenic
X	21754272	G	T	G21754272T	SMPX	NM_014332.3(SMPX):c.19C>A:p.Pro7Thr	coding	Pathogenic
X	21754465	A	G	A21754465G	SMPX	NM_014332.3(SMPX):c.-12-163T>C	noncoding	Benign
X	21839473	C	A	C21839473A	MBTPS2	Single_allele	noncoding	Benign
X	21842842	G	C	G21842842C	MBTPS2	NM_015884.4(MBTPS2):c.76-328G>C	noncoding	Benign
X	21843213	A	G	A21843213G	MBTPS2	NM_015884.4(MBTPS2):c.119A>G:p.Asn40Ser	coding	Benign
X	21843311	T	A	T21843311A	MBTPS2	NM_015884.4(MBTPS2):c.217T>A:p.Tyr73Asn	coding	Benign
X	21843343	G	A	G21843343A	MBTPS2	NM_015884.4(MBTPS2):c.224+25G>A	noncoding	Benign
X	21843369	G	A	G21843369A	MBTPS2	NM_015884.4(MBTPS2):c.224+51G>A	noncoding	Benign
X	21843514	T	C	T21843514C	MBTPS2	NM_015884.4(MBTPS2):c.224+196T>C	noncoding	Benign
X	21845196	G	A	G21845196A	MBTPS2	NM_015884.4(MBTPS2):c.250G>A:p.Val84Ile	coding	Benign
X	21845402	G	A	G21845402A	MBTPS2	NM_015884.4(MBTPS2):c.438+18G>A	noncoding	Benign
X	21845443	A	C	A21845443C	MBTPS2	NM_015884.4(MBTPS2):c.438+59A>C	noncoding	Benign
X	21851865	A	G	A21851865G	MBTPS2	NM_015884.4(MBTPS2):c.542+253A>G	noncoding	Benign
X	21851926	G	A	G21851926A	MBTPS2	NM_015884.4(MBTPS2):c.542+314G>A	noncoding	Benign
X	21853186	C	A	C21853186A	MBTPS2	NM_015884.4(MBTPS2):c.543-190C>A	noncoding	Benign
X	21868554	G	C	G21868554C	MBTPS2	NM_015884.4(MBTPS2):c.758G>C:p.Gly253Ala	coding	Pathogenic
X	21869269	C	T	C21869269T	MBTPS2	NM_015884.4(MBTPS2):c.790-229C>T	noncoding	Benign
X	21877978	G	T	G21877978T	MBTPS2	NM_015884.4(MBTPS2):c.971-64G>T	noncoding	Benign
X	21878130	G	A	G21878130A	MBTPS2	NM_015884.4(MBTPS2):c.1059G>A:p.Lys353=	coding	Benign
X	21878148	C	T	C21878148T	MBTPS2	NM_015884.4(MBTPS2):c.1065+12C>T	noncoding	Benign
X	21878668	C	T	C21878668T	MBTPS2	NM_015884.4(MBTPS2):c.1237C>T:p.His413Tyr	coding	Benign/Likely_benign
X	21881087	C	T	C21881087T	MBTPS2	NM_015884.4(MBTPS2):c.1337+115C>T	noncoding	Benign
X	21882594	G	A	G21882594A	MBTPS2	NM_015884.4(MBTPS2):c.1499G>A:p.Gly500Asp	coding	Pathogenic/Likely_pathogenic
X	21940733	A	G	A21940733G	SMS	NM_004595.5(SMS):c.-92A>G	noncoding	Benign
X	21966875	G	A	G21966875A	SMS	NM_004595.5(SMS):c.50-321G>A	noncoding	Benign
X	21967346	C	T	C21967346T	SMS	NM_004595.5(SMS):c.170+30C>T	noncoding	Benign
X	21967425	C	A	C21967425A	SMS	NM_004595.5(SMS):c.170+109C>A	noncoding	Benign
X	21971735	C	A	C21971735A	SMS	NM_004595.5(SMS):c.171-162C>A	noncoding	Benign
X	21972337	G	C	G21972337C	SMS	NM_004595.5(SMS):c.265-170G>C	noncoding	Benign
X	21976850	C	T	C21976850T	SMS	NM_004595.5(SMS):c.330-211C>T	noncoding	Benign
X	21977066	C	T	C21977066T	SMS	NM_004595.5(SMS):c.335C>T:p.Pro112Leu	coding	Pathogenic
X	21979167	C	G	C21979167G	SMS	NM_004595.5(SMS):c.750+201C>G	noncoding	Benign
X	21984396	A	G	A21984396G	SMS	NM_004595.5(SMS):c.843A>G:p.Pro281_Ile282=	coding	Benign
X	21984593	A	G	A21984593G	SMS	NM_004595.5(SMS):c.865+175A>G	noncoding	Benign
X	21984738	G	A	G21984738A	SMS	NM_004595.5(SMS):c.865+320G>A	noncoding	Benign
X	21985112	T	C	T21985112C	SMS	NM_004595.5(SMS):c.866-32T>C	noncoding	Benign
X	22033007	T	C	T22033007C	PHEX	NM_000444.6(PHEX):c.2T>C:p.Met1Thr	coding	Pathogenic
X	22033087	G	A	G22033087A	PHEX	NM_000444.6(PHEX):c.82G>A:p.Gly28Ser	coding	Benign
X	22033440	T	C	T22033440C	PHEX	NM_000444.6(PHEX):c.118+317T>C	noncoding	Benign
X	22038468	G	A	G22038468A	PHEX	NM_000444.6(PHEX):c.119-1G>A	noncoding	Pathogenic
X	22038468	G	C	G22038468C	PHEX	NM_000444.6(PHEX):c.119-1G>C	noncoding	Pathogenic
X	22038527	C	A	C22038527A	PHEX	NM_000444.6(PHEX):c.177C>A:p.Cys59Ter	coding	Pathogenic
X	22047003	C	T	C22047003T	PHEX	NM_000444.6(PHEX):c.188-47C>T	noncoding	Benign
X	22047062	T	A	T22047062A	PHEX	NM_000444.6(PHEX):c.200T>A:p.Leu67Ter	coding	Pathogenic
X	22047117	T	A	T22047117A	PHEX	NM_000444.6(PHEX):c.255T>A:p.Cys85Ter	coding	Pathogenic
X	22047167	G	T	G22047167T	PHEX	NM_000444.6(PHEX):c.305G>T:p.Gly102Val	coding	Pathogenic
X	22047213	T	C	T22047213C	PHEX	NM_000444.6(PHEX):c.349+2T>C	noncoding	Pathogenic
X	22076387	G	C	G22076387C	PHEX	NM_000444.6(PHEX):c.350-1G>C	noncoding	Pathogenic
X	22076394	T	G	T22076394G	PHEX	NM_000444.6(PHEX):c.356T>G:p.Leu119Trp	coding	Pathogenic
X	22076399	A	T	A22076399T	PHEX	NM_000444.6(PHEX):c.361A>T:p.Lys121Ter	coding	Pathogenic
X	22076417	C	T	C22076417T	PHEX	NM_000444.6(PHEX):c.379C>T:p.Arg127Trp	coding	Benign
X	22076437	G	A	G22076437A	PHEX	NM_000444.6(PHEX):c.399G>A:p.Gln133=	coding	Benign/Likely_benign
X	22076459	T	C	T22076459C	PHEX	NM_000444.6(PHEX):c.421T>C:p.Ser141Pro	coding	Pathogenic
X	22076460	C	T	C22076460T	PHEX	NM_000444.6(PHEX):c.422C>T:p.Ser141Phe	coding	Pathogenic/Likely_pathogenic
X	22076478	A	T	A22076478T	PHEX	NM_000444.6(PHEX):c.436+4A>T	noncoding	Pathogenic
X	22077268	A	G	A22077268G	PHEX	NM_000444.6(PHEX):c.437-208A>G	noncoding	Benign
X	22077474	A	G	A22077474G	PHEX	NM_000444.6(PHEX):c.437-2A>G	noncoding	Pathogenic
X	22077489	A	G	A22077489G	PHEX	NM_000444.6(PHEX):c.450A>G:p.Lys150=	coding	Benign
X	22077499	A	T	A22077499T	PHEX	NM_000444.6(PHEX):c.460A>T:p.Lys154Ter	coding	Pathogenic
X	22077521	G	A	G22077521A	PHEX	NM_000444.6(PHEX):c.482G>A:p.Arg161Gln	coding	Benign
X	22077544	G	A	G22077544A	PHEX	NM_000444.6(PHEX):c.505G>A:p.Val169Met	coding	Benign/Likely_benign
X	22077702	G	A	G22077702A	PHEX	NM_000444.6(PHEX):c.663G>A:p.Lys221=	coding	Pathogenic/Likely_pathogenic
X	22090305	G	C	G22090305C	PHEX	NM_000444.6(PHEX):c.664-124G>C	noncoding	Benign
X	22090470	C	A	C22090470A	PHEX	NM_000444.6(PHEX):c.705C>A:p.Tyr235Ter	coding	Pathogenic
X	22090498	G	T	G22090498T	PHEX	NM_000444.6(PHEX):c.732+1G>T	coding	Pathogenic
X	22093794	G	A	G22093794A	PHEX	NM_000444.6(PHEX):c.733-189G>A	noncoding	Benign
X	22094005	T	C	T22094005C	PHEX	NM_000444.6(PHEX):c.755T>C:p.Phe252Ser	coding	Pathogenic
X	22094029	T	G	T22094029G	PHEX	NM_000444.6(PHEX):c.779T>G:p.Leu260Ter	coding	Pathogenic
X	22094076	A	T	A22094076T	PHEX	NM_000444.6(PHEX):c.826A>T:p.Arg276Ter	coding	Pathogenic
X	22094227	G	A	G22094227A	PHEX	NM_000444.6(PHEX):c.849+128G>A	noncoding	Benign
X	22095148	T	C	T22095148C	PHEX	NM_000444.6(PHEX):c.849+1049T>C	noncoding	Benign
X	22096996	C	G	C22096996G	PHEX	NM_000444.6(PHEX):c.891C>G:p.Tyr297Ter	coding	Pathogenic
X	22097000	A	T	A22097000T	PHEX	NM_000444.6(PHEX):c.895A>T:p.Lys299Ter	coding	Pathogenic
X	22097036	C	T	C22097036T	PHEX	NM_000444.6(PHEX):c.931C>T:p.Gln311Ter	coding	Pathogenic
X	22097040	T	A	T22097040A	PHEX	NM_000444.6(PHEX):c.933+2T>A	noncoding	Pathogenic
X	22097079	A	G	A22097079G	PHEX	NM_000444.6(PHEX):c.933+41A>G	noncoding	Benign
X	22097324	G	A	G22097324A	PHEX	NM_000444.6(PHEX):c.933+286G>A	noncoding	Benign
X	22099114	A	T	A22099114T	PHEX	NM_000444.6(PHEX):c.1042A>T:p.Lys348Ter	coding	Pathogenic
X	22099118	A	G	A22099118G	PHEX	NM_000444.6(PHEX):c.1046A>G:p.Asp349Gly	coding	Pathogenic/Likely_pathogenic
X	22099153	T	G	T22099153G	PHEX	NM_000444.6(PHEX):c.1079+2T>G	noncoding	Pathogenic
X	22099364	T	C	T22099364C	PHEX	NM_000444.6(PHEX):c.1079+213T>C	noncoding	Benign
X	22099430	C	T	C22099430T	PHEX	NM_000444.6(PHEX):c.1079+279C>T	noncoding	Benign
X	22111394	C	T	C22111394T	PHEX	NM_000444.6(PHEX):c.1080-73C>T	noncoding	Benign
X	22111464	C	G	C22111464G	PHEX	NM_000444.6(PHEX):c.1080-3C>G	noncoding	Pathogenic
X	22111474	G	C	G22111474C	PHEX	NM_000444.6(PHEX):c.1087G>C:p.Ala363Pro	coding	Pathogenic
X	22111539	T	G	T22111539G	PHEX	NM_000444.6(PHEX):c.1152T>G:p.Tyr384Ter	coding	Pathogenic
X	22114457	G	A	G22114457A	PHEX	NM_000444.6(PHEX):c.1174-1G>A	noncoding	Pathogenic
X	22114469	G	C	G22114469C	PHEX	NM_000444.6(PHEX):c.1185G>C:p.Gly395=	coding	Benign
X	22114521	G	C	G22114521C	PHEX	NM_000444.6(PHEX):c.1237G>C:p.Ala413Pro	coding	Pathogenic
X	22114566	C	T	C22114566T	PHEX	NM_000444.6(PHEX):c.1282C>T:p.Gln428Ter	coding	Pathogenic
X	22114588	T	A	T22114588A	PHEX	NM_000444.6(PHEX):c.1302+2T>A	noncoding	Pathogenic
X	22114863	G	A	G22114863A	PHEX	NM_000444.6(PHEX):c.1302+277G>A	noncoding	Benign
X	22133529	G	T	G22133529T	PHEX	NM_000444.6(PHEX):c.1309G>T:p.Glu437Ter	coding	Pathogenic
X	22133551	G	A	G22133551A	PHEX	NM_000444.6(PHEX):c.1331G>A:p.Trp444Ter	coding	Pathogenic
X	22133552	G	A	G22133552A	PHEX	NM_000444.6(PHEX):c.1332G>A:p.Trp444Ter	coding	Pathogenic
X	22133596	C	A	C22133596A	PHEX	NM_000444.6(PHEX):c.1376C>A:p.Ala459Glu	coding	Pathogenic
X	22133602	C	G	C22133602G	PHEX	NM_000444.6(PHEX):c.1382C>G:p.Thr461Arg	coding	Pathogenic
X	22133623	A	C	A22133623C	PHEX	NM_000444.6(PHEX):c.1403A>C:p.Lys468Thr	coding	Pathogenic
X	22133625	G	C	G22133625C	PHEX	NM_000444.6(PHEX):c.1404+1G>C	coding	Pathogenic
X	22168368	T	C	T22168368C	PHEX	NM_000444.6(PHEX):c.1461T>C:p.His487=	coding	Benign/Likely_benign
X	22168392	A	C	A22168392C	PHEX	NM_000444.6(PHEX):c.1482+3A>C	noncoding	Pathogenic
X	22168405	A	C	A22168405C	PHEX	NM_000444.6(PHEX):c.1482+16A>C	noncoding	Benign/Likely_benign
X	22168660	G	A	G22168660A	PHEX	NM_000444.6(PHEX):c.1482+271G>A	noncoding	Benign
X	22178062	G	T	G22178062T	PHEX	NM_000444.6(PHEX):c.1483-211G>T	noncoding	Benign
X	22178305	C	T	C22178305T	PHEX	NM_000444.6(PHEX):c.1515C>T:p.Asn505=	coding	Benign
X	22178321	A	T	A22178321T	PHEX	NM_000444.6(PHEX):c.1531A>T:p.Lys511Ter	coding	Pathogenic
X	22178326	T	A	T22178326A	PHEX	NM_000444.6(PHEX):c.1536T>A:p.Tyr512Ter	coding	Pathogenic
X	22178381	G	A	G22178381A	PHEX	NM_000444.6(PHEX):c.1586+5G>A	noncoding	Pathogenic/Likely_pathogenic
X	22178663	G	T	G22178663T	PHEX	NM_000444.6(PHEX):c.1586+287G>T	noncoding	Benign
X	22190446	G	A	G22190446A	PHEX	NM_000444.6(PHEX):c.1589G>A:p.Trp530Ter	coding	Pathogenic/Likely_pathogenic
X	22190457	C	A	C22190457A	PHEX	NM_000444.6(PHEX):c.1600C>A:p.Pro534Thr	coding	Pathogenic
X	22190504	T	G	T22190504G	PHEX	NM_000444.6(PHEX):c.1645+2T>G	noncoding	Pathogenic
X	22190612	G	T	G22190612T	PHEX	NM_000444.6(PHEX):c.1645+110G>T	noncoding	Benign
X	22190671	C	T	C22190671T	PHEX	NM_000444.6(PHEX):c.1645+169C>T	noncoding	Benign
X	22190676	T	G	T22190676G	PHEX	NM_000444.6(PHEX):c.1645+174T>G	noncoding	Benign
X	22190714	A	G	A22190714G	PHEX	NM_000444.6(PHEX):c.1645+212A>G	noncoding	Benign
X	22212639	A	G	A22212639G	PHEX	NM_000444.6(PHEX):c.1646-265A>G	noncoding	Benign
X	22212902	A	C	A22212902C	PHEX	NM_000444.6(PHEX):c.1646-2A>C	noncoding	Pathogenic
X	22212902	A	G	A22212902G	PHEX	NM_000444.6(PHEX):c.1646-2A>G	noncoding	Pathogenic
X	22212903	G	C	G22212903C	PHEX	NM_000444.6(PHEX):c.1646-1G>C	noncoding	Pathogenic
X	22212958	G	C	G22212958C	PHEX	NM_000444.6(PHEX):c.1700G>C:p.Arg567Pro	coding	Pathogenic/Likely_pathogenic
X	22218695	T	G	T22218695G	PHEX	NM_000444.6(PHEX):c.1701-341T>G	noncoding	Benign
X	22218829	A	G	A22218829G	PHEX	NM_000444.6(PHEX):c.1701-207A>G	noncoding	Benign
X	22219059	G	A	G22219059A	PHEX	NM_000444.6(PHEX):c.1724G>A:p.Gly575Glu	coding	Pathogenic
X	22219085	C	T	C22219085T	PHEX	NM_000444.6(PHEX):c.1750C>T:p.His584Tyr	coding	Pathogenic/Likely_pathogenic
X	22219092	T	C	T22219092C	PHEX	NM_000444.6(PHEX):c.1757T>C:p.Phe586Ser	coding	Pathogenic
X	22221440	T	C	T22221440C	PHEX	NM_000444.6(PHEX):c.1769-173T>C	noncoding	Benign
X	22221611	A	G	A22221611G	PHEX	NM_000444.6(PHEX):c.1769-2A>G	noncoding	Pathogenic
X	22221684	A	T	A22221684T	PHEX	NM_000444.6(PHEX):c.1840A>T:p.Lys614Ter	coding	Pathogenic
X	22221705	C	T	C22221705T	PHEX	NM_000444.6(PHEX):c.1861C>T:p.Gln621Ter	coding	Pathogenic
X	22221834	G	A	G22221834A	PHEX	NM_000444.6(PHEX):c.1899+91G>A	noncoding	Benign
X	22222047	T	C	T22222047C	PHEX	NM_000444.6(PHEX):c.1899+304T>C	noncoding	Benign
X	22226211	A	G	A22226211G	PHEX	NM_000444.6(PHEX):c.1900-232A>G	noncoding	Benign
X	22226442	G	A	G22226442A	PHEX	NM_000444.6(PHEX):c.1900-1G>A	noncoding	Pathogenic/Likely_pathogenic
X	22226464	G	T	G22226464T	PHEX	NM_000444.6(PHEX):c.1921G>T:p.Gly641Ter	coding	Pathogenic
X	22226479	G	C	G22226479C	PHEX	NM_000444.6(PHEX):c.1936G>C:p.Asp646His	coding	Pathogenic/Likely_pathogenic
X	22226480	A	G	A22226480G	PHEX	NM_000444.6(PHEX):c.1937A>G:p.Asp646Gly	coding	Pathogenic
X	22227205	C	T	C22227205T	PHEX	NM_000444.6(PHEX):c.1966-302C>T	noncoding	Benign
X	22227506	G	A	G22227506A	PHEX	NM_000444.6(PHEX):c.1966-1G>A	noncoding	Pathogenic
X	22227506	G	C	G22227506C	PHEX	NM_000444.6(PHEX):c.1966-1G>C	noncoding	Pathogenic/Likely_pathogenic
X	22227511	A	G	A22227511G	PHEX	NM_000444.6(PHEX):c.1970A>G:p.Tyr657Cys	coding	Pathogenic
X	22227559	T	G	T22227559G	PHEX	NM_000444.6(PHEX):c.2018T>G:p.Leu673Arg	coding	Pathogenic
X	22227612	G	A	G22227612A	PHEX	NM_000444.6(PHEX):c.2070+1G>A	coding	Pathogenic/Likely_pathogenic
X	22227928	G	A	G22227928A	PHEX	NM_000444.6(PHEX):c.2070+317G>A	noncoding	Benign
X	22227936	C	T	C22227936T	PHEX	NM_000444.6(PHEX):c.2070+325C>T	noncoding	Benign
X	22245378	C	T	C22245378T	PHEX	NM_000444.6(PHEX):c.2116C>T:p.Gln706Ter	coding	Pathogenic
X	22245394	G	T	G22245394T	PHEX	NM_000444.6(PHEX):c.2132G>T:p.Ser711Ile	coding	Pathogenic
X	22245604	T	C	T22245604C	PHEX	NM_000444.6(PHEX):c.2147+195T>C	noncoding	Benign
X	22247549	A	G	A22247549G	PHEX	NM_000444.6(PHEX):c.2148-302A>G	noncoding	Benign
X	22247672	A	T	A22247672T	PHEX	NM_000444.6(PHEX):c.2148-179A>T	noncoding	Benign
X	22247854	C	G	C22247854G	PHEX	NM_000444.6(PHEX):c.2151C>G:p.Val717=	coding	Benign
X	22247885	C	T	C22247885T	PHEX	NM_000444.6(PHEX):c.2182C>T:p.Gln728Ter	coding	Pathogenic
X	22247902	T	A	T22247902A	PHEX	NM_000444.6(PHEX):c.2199T>A:p.Cys733Ter	coding	Pathogenic
X	22247924	A	T	A22247924T	PHEX	NM_000444.6(PHEX):c.2221A>T:p.Arg741Ter	coding	Pathogenic
X	23335078	A	G	A23335078G	PTCHD1	NM_173495.3(PTCHD1):c.203A>G:p.Asn68Ser	coding	Benign/Likely_benign
X	23379294	C	T	C23379294T	PTCHD1	NM_173495.3(PTCHD1):c.352-297C>T	noncoding	Benign
X	23380256	T	C	T23380256C	PTCHD1	NM_173495.3(PTCHD1):c.1012+5T>C	noncoding	Benign/Likely_benign
X	23380520	T	G	T23380520G	PTCHD1	NM_173495.3(PTCHD1):c.1012+269T>G	noncoding	Benign
X	23392505	G	C	G23392505C	PTCHD1	NM_173495.3(PTCHD1):c.1013-26G>C	noncoding	Benign
X	23392991	C	T	C23392991T	PTCHD1	NM_173495.3(PTCHD1):c.1473C>T:p.Tyr491=	coding	Benign/Likely_benign
X	23393183	G	A	G23393183A	PTCHD1	NM_173495.3(PTCHD1):c.1665G>A:p.Val555=	coding	Benign/Likely_benign
X	23393993	G	A	G23393993A	PTCHD1	NM_173495.3(PTCHD1):c.2475G>A:p.Arg825=	coding	Benign
X	23880829	A	G	A23880829G	APOO	NM_024122.5(APOO):c.117+16T>C	noncoding	Benign
X	23989034	A	G	A23989034G	KLHL15	NM_030624.3(KLHL15):c.706-4T>C	noncoding	Benign
X	24055644	C	T	C24055644T	EIF2S3	NM_001415.4(EIF2S3):c.99C>T:p.His33=	coding	Benign
X	24073202	C	T	C24073202T	EIF2S3	NM_001415.4(EIF2S3):c.1294C>T:p.Pro432Ser	coding	Pathogenic
X	24464943	A	C	A24464943C	PDK3	Single_allele	noncoding	Benign
X	24465288	T	G	T24465288G	PDK3	NM_005391.5(PDK3):c.-168T>G	noncoding	Benign
X	24465491	G	A	G24465491A	PDK3	NM_005391.5(PDK3):c.36G>A:p.Val12=	coding	Benign
X	24465826	G	C	G24465826C	PDK3	NM_005391.5(PDK3):c.106+265G>C	noncoding	Benign
X	24494839	G	A	G24494839A	PDK3	NM_005391.5(PDK3):c.204G>A:p.Pro68=	coding	Benign
X	24495079	G	A	G24495079A	PDK3	NM_005391.5(PDK3):c.248+196G>A	noncoding	Benign
X	24498922	T	G	T24498922G	PDK3	NM_005391.5(PDK3):c.320+22T>G	noncoding	Benign
X	24499094	A	G	A24499094G	PDK3	NM_005391.5(PDK3):c.320+194A>G	noncoding	Benign
X	24503772	T	C	T24503772C	PDK3	NM_005391.5(PDK3):c.505+261T>C	noncoding	Benign
X	24505203	G	A	G24505203A	PDK3	NM_005391.5(PDK3):c.506-6G>A	noncoding	Benign
X	24505226	G	A	G24505226A	PDK3	NM_005391.5(PDK3):c.523G>A:p.Asp175Asn	coding	Benign
X	24505400	T	C	T24505400C	PDK3	NM_005391.5(PDK3):c.595+102T>C	noncoding	Benign
X	24519008	A	G	A24519008G	PDK3	NM_005391.5(PDK3):c.671A>G:p.Asn224Ser	coding	Benign
X	24519231	A	G	A24519231G	PDK3	NM_005391.5(PDK3):c.673+221A>G	noncoding	Benign
X	24526187	T	C	T24526187C	PDK3	NM_005391.5(PDK3):c.674-11T>C	noncoding	Benign/Likely_benign
X	24526195	C	T	C24526195T	PDK3	NM_005391.5(PDK3):c.674-3C>T	noncoding	Benign
X	24527832	C	G	C24527832G	PDK3	NM_005391.5(PDK3):c.852+157C>G	noncoding	Benign
X	24528346	G	T	G24528346T	PDK3	NM_005391.5(PDK3):c.963+160G>T	noncoding	Benign
X	24531373	T	C	T24531373C	PDK3	NM_005391.5(PDK3):c.964-284T>C	noncoding	Benign
X	24531985	G	A	G24531985A	PDK3	NM_005391.5(PDK3):c.1077+215G>A	noncoding	Benign
X	24539061	A	G	A24539061G	PDK3	NM_001142386.3(PDK3):c.1218-73A>G	noncoding	Benign
X	24703241	A	G	A24703241G	POLA1	NM_001330360.2(POLA1):c.169-10A>G	noncoding	Benign
X	24704383	C	T	C24704383T	POLA1	NM_001330360.2(POLA1):c.266-6C>T	noncoding	Benign
X	24704441	A	G	A24704441G	POLA1	NM_001330360.2(POLA1):c.318A>G:p.Glu106=	coding	Benign
X	24715139	A	T	A24715139T	POLA1	NM_001330360.2(POLA1):c.463-2A>T	noncoding	Pathogenic
X	24716393	T	C	T24716393C	POLA1	NM_001330360.2(POLA1):c.557T>C:p.Ile186Thr	coding	Benign
X	24717271	T	C	T24717271C	POLA1	NM_001330360.2(POLA1):c.707-19T>C	noncoding	Benign
X	24717403	A	G	A24717403G	POLA1	NM_001330360.2(POLA1):c.820A>G:p.Met274Val	coding	Benign
X	24723280	G	A	G24723280A	POLA1	NM_001330360.2(POLA1):c.1200+13G>A	noncoding	Benign
X	24727770	A	G	A24727770G	POLA1	NM_001330360.2(POLA1):c.1532-12A>G	noncoding	Benign
X	24732355	C	T	C24732355T	POLA1	NM_001330360.2(POLA1):c.1687-15C>T	noncoding	Benign
X	24741394	T	C	T24741394C	POLA1	NM_001330360.2(POLA1):c.2236T>C:p.Tyr746His	coding	Benign
X	24741425	A	G	A24741425G	POLA1	NM_001330360.2(POLA1):c.2267A>G:p.Lys756Arg	coding	Benign
X	24810797	C	T	C24810797T	POLA1	NM_001330360.2(POLA1):c.3087C>T:p.Asn1029=	coding	Benign
X	24812750	C	T	C24812750T	POLA1	NM_001330360.2(POLA1):c.3183C>T:p.Tyr1061=	coding	Benign
X	24814962	T	G	T24814962G	POLA1	NM_001330360.2(POLA1):c.3297-17T>G	noncoding	Benign
X	24814975	G	A	G24814975A	POLA1	NM_001330360.2(POLA1):c.3297-4G>A	noncoding	Benign
X	24821443	C	G	C24821443G	POLA1	NM_001330360.2(POLA1):c.3430-9C>G	noncoding	Benign
X	24821538	C	G	C24821538G	POLA1	NM_001330360.2(POLA1):c.3516C>G:p.Gly1172=	coding	Benign
X	24826582	C	A	C24826582A	POLA1	NM_001330360.2(POLA1):c.3717C>A:p.Val1239=	coding	Benign
X	24826586	A	G	A24826586G	POLA1	NM_001330360.2(POLA1):c.3721A>G:p.Ile1241Val	coding	Benign
X	24841816	G	A	G24841816A	POLA1	NM_001330360.2(POLA1):c.3901G>A:p.Val1301Ile	coding	Benign
X	24843655	G	A	G24843655A	POLA1	NM_001330360.2(POLA1):c.4025G>A:p.Arg1342His	coding	Benign
X	24930473	C	T	C24930473T	POLA1	NM_001330360.2(POLA1):c.4185C>T:p.Tyr1395=	coding	Benign
X	24930509	G	A	G24930509A	POLA1	NM_001330360.2(POLA1):c.4221G>A:p.Ala1407=	coding	Benign
X	24995789	C	G	C24995789G	POLA1	NM_001330360.2(POLA1):c.4262-16C>G	noncoding	Benign
X	24995938	C	T	C24995938T	POLA1	NM_001330360.2(POLA1):c.4395C>T:p.Ala1465=	coding	Benign
X	25004747	T	C	T25004747C	ARX	NM_139058.3(ARX):c.1612A>G:p.Lys538Glu	coding	Pathogenic/Likely_pathogenic
X	25004760	G	C	G25004760C	ARX	NM_139058.3(ARX):c.1599C>G:p.Ala533=	coding	Benign/Likely_benign
X	25004780	T	A	T25004780A	ARX	NM_139058.3(ARX):c.1579A>T:p.Arg527Ter	coding	Pathogenic
X	25004835	C	T	C25004835T	ARX	NM_139058.3(ARX):c.1524G>A:p.Val508=	coding	Benign
X	25007214	C	T	C25007214T	ARX	NM_139058.3(ARX):c.1345G>A:p.Gly449Ser	coding	Benign
X	25007263	G	A	G25007263A	ARX	NM_139058.3(ARX):c.1296C>T:p.Ala432=	coding	Benign/Likely_benign
X	25007287	C	A	C25007287A	ARX	NM_139058.3(ARX):c.1272G>T:p.Pro424=	coding	Benign/Likely_benign
X	25007408	C	A	C25007408A	ARX	NM_139058.3(ARX):c.1151G>T:p.Arg384Leu	coding	Pathogenic
X	25007434	C	T	C25007434T	ARX	NM_139058.3(ARX):c.1125G>A:p.Trp375Ter	coding	Pathogenic
X	25007441	T	C	T25007441C	ARX	NM_139058.3(ARX):c.1120-2A>G	noncoding	Pathogenic
X	25012697	G	A	G25012697A	ARX	NM_139058.3(ARX):c.1073+225C>T	noncoding	Benign
X	25012731	G	A	G25012731A	ARX	NM_139058.3(ARX):c.1073+191C>T	noncoding	Benign
X	25013257	G	A	G25013257A	ARX	NM_139058.3(ARX):c.738C>T:p.Asp246=	coding	Benign
X	25013424	C	A	C25013424A	ARX	NM_139058.3(ARX):c.571G>T:p.Glu191Ter	coding	Pathogenic
X	25013625	C	A	C25013625A	ARX	NM_139058.3(ARX):c.370G>T:p.Glu124Ter	coding	Pathogenic
X	25013634	G	T	G25013634T	ARX	NM_139058.3(ARX):c.361C>A:p.Pro121Thr	coding	Benign
X	25015639	C	T	C25015639T	ARX	NM_139058.3(ARX):c.99G>A:p.Leu33=	coding	Benign
X	25015736	A	C	A25015736C	ARX	NM_139058.3(ARX):c.2T>G:p.Met1Arg	coding	Pathogenic
X	28789228	G	A	G28789228A	IL1RAPL1	NM_014271.4(IL1RAPL1):c.-24-92G>A	noncoding	Benign
X	28789631	A	G	A28789631G	IL1RAPL1	NM_014271.4(IL1RAPL1):c.82+206A>G	noncoding	Benign
X	28789652	T	C	T28789652C	IL1RAPL1	NM_014271.4(IL1RAPL1):c.82+227T>C	noncoding	Benign
X	28789659	A	G	A28789659G	IL1RAPL1	NM_014271.4(IL1RAPL1):c.82+234A>G	noncoding	Benign
X	28852969	C	G	C28852969G	IL1RAPL1	NM_014271.4(IL1RAPL1):c.82+63544C>G	noncoding	Benign
X	28853207	A	G	A28853207G	IL1RAPL1	NM_014271.4(IL1RAPL1):c.82+63782A>G	noncoding	Benign
X	28853226	A	G	A28853226G	IL1RAPL1	NM_014271.4(IL1RAPL1):c.82+63801A>G	noncoding	Benign
X	28927893	A	G	A28927893G	IL1RAPL1	NM_014271.4(IL1RAPL1):c.82+138468A>G	noncoding	Benign
X	29396022	A	C	A29396022C	IL1RAPL1	NM_014271.4(IL1RAPL1):c.363-236A>C	noncoding	Benign
X	29396452	C	T	C29396452T	IL1RAPL1	NM_014271.4(IL1RAPL1):c.549+8C>T	noncoding	Benign
X	29396494	T	C	T29396494C	IL1RAPL1	NM_014271.4(IL1RAPL1):c.549+50T>C	noncoding	Benign
X	29399393	C	A	C29399393A	IL1RAPL1	NM_014271.4(IL1RAPL1):c.703+85C>A	noncoding	Benign
X	29399618	G	A	G29399618A	IL1RAPL1	NM_014271.4(IL1RAPL1):c.703+310G>A	noncoding	Benign
X	29668542	C	T	C29668542T	IL1RAPL1	NM_014271.4(IL1RAPL1):c.778+38C>T	noncoding	Benign
X	29917239	C	T	C29917239T	IL1RAPL1	NM_014271.4(IL1RAPL1):c.779-225C>T	noncoding	Benign
X	29917469	T	G	T29917469G	IL1RAPL1	NM_014271.4(IL1RAPL1):c.784T>G:p.Ser262Ala	coding	Benign/Likely_benign
X	29941636	G	T	G29941636T	IL1RAPL1	NM_014271.4(IL1RAPL1):c.1058-15G>T	noncoding	Benign
X	29954842	T	C	T29954842C	IL1RAPL1	NM_014271.4(IL1RAPL1):c.1372+150T>C	noncoding	Benign
X	29955063	C	A	C29955063A	IL1RAPL1	NM_014271.4(IL1RAPL1):c.1373-39C>A	noncoding	Benign
X	30304582	T	C	T30304582C	NR0B1	NM_000475.5(NR0B1):c.1410A>G:p.Ile470Met	coding	Benign/Likely_benign
X	30304791	G	A	G30304791A	NR0B1	NM_000475.5(NR0B1):c.1201C>T:p.Gln401Ter	coding	Pathogenic
X	30304816	C	T	C30304816T	NR0B1	NM_000475.5(NR0B1):c.1176G>A:p.Pro392=	coding	Benign
X	30308195	C	A	C30308195A	NR0B1	NM_000475.5(NR0B1):c.1168+1G>T	noncoding	Pathogenic
X	30308610	G	A	G30308610A	NR0B1	NM_000475.5(NR0B1):c.754C>T:p.Gln252Ter	coding	Pathogenic
X	30309020	A	G	A30309020G	NR0B1	NM_000475.5(NR0B1):c.344T>C:p.Val115Ala	coding	Benign
X	30309138	G	A	G30309138A	NR0B1	NM_000475.5(NR0B1):c.226C>T:p.Gln76Ter	coding	Pathogenic
X	30309268	C	G	C30309268G	NR0B1	NM_000475.5(NR0B1):c.96G>C:p.Thr32=	coding	Benign
X	30653779	G	C	G30653779C	GK	NM_001205019.2(GK):c.78+164G>C	noncoding	Benign
X	30667920	A	C	A30667920C	GK	NM_001205019.2(GK):c.153-92A>C	noncoding	Benign
X	30669373	G	A	G30669373A	GK	NM_001205019.2(GK):c.259+1255G>A	noncoding	Pathogenic
X	30670451	G	T	G30670451T	GK	NM_001205019.2(GK):c.259+2333G>T	noncoding	Benign
X	30691327	G	A	G30691327A	GK	NM_001205019.2(GK):c.414+128G>A	noncoding	Benign
X	30694679	G	C	G30694679C	GK	NM_001205019.2(GK):c.552+142G>C	noncoding	Benign
X	30695798	G	A	G30695798A	GK	NM_001205019.2(GK):c.553-244G>A	noncoding	Benign
X	30695846	A	G	A30695846G	GK	NM_001205019.2(GK):c.553-196A>G	noncoding	Benign
X	30695940	C	T	C30695940T	GK	NM_001205019.2(GK):c.553-102C>T	noncoding	Benign
X	30696443	A	T	A30696443T	GK	NM_001205019.2(GK):c.663-174A>T	noncoding	Benign
X	30696700	C	A	C30696700A	GK	NM_001205019.2(GK):c.729+17C>A	noncoding	Benign
X	30697710	C	T	C30697710T	GK	NM_001205019.2(GK):c.730-22C>T	noncoding	Benign
X	30697968	G	A	G30697968A	GK	NM_001205019.2(GK):c.747+219G>A	noncoding	Benign
X	30700392	T	C	T30700392C	GK	NM_001205019.2(GK):c.748-22T>C	noncoding	Benign
X	30700906	G	A	G30700906A	GK	NM_001205019.2(GK):c.851+1G>A	coding	Pathogenic
X	30707677	C	T	C30707677T	GK	NM_001205019.2(GK):c.894+79C>T	noncoding	Benign
X	30707806	C	T	C30707806T	GK	NM_001205019.2(GK):c.894+208C>T	noncoding	Benign
X	30718638	G	T	G30718638T	GK	NM_001205019.2(GK):c.1054+22G>T	noncoding	Benign
X	30721176	T	C	T30721176C	GK	NM_001205019.2(GK):c.1501+181T>C	noncoding	Benign
X	30727673	A	T	A30727673T	GK	NM_001205019.2(GK):c.1669+121A>T	noncoding	Benign
X	31126602	A	G	A31126602G	DMD	NM_004006.3(DMD):c.11046+40T>C	noncoding	Benign
X	31126631	A	G	A31126631G	DMD	NM_004006.3(DMD):c.11046+11T>C	noncoding	Benign/Likely_benign
X	31146357	G	A	G31146357A	DMD	NM_004006.3(DMD):c.10855C>T:p.Gln3619Ter	coding	Pathogenic
X	31146585	A	T	A31146585T	DMD	NM_004006.3(DMD):c.10798-171T>A	noncoding	Benign
X	31147319	G	A	G31147319A	DMD	NM_004006.3(DMD):c.10753C>T:p.Gln3585Ter	coding	Pathogenic
X	31147484	G	A	G31147484A	DMD	NM_004006.3(DMD):c.10588C>T:p.Gln3530Ter	coding	Pathogenic
X	31147544	G	A	G31147544A	DMD	NM_004006.3(DMD):c.10554-26C>T	noncoding	Benign
X	31147784	A	G	A31147784G	DMD	NM_004006.3(DMD):c.10554-266T>C	noncoding	Benign
X	31169571	G	C	G31169571C	DMD	NM_004006.3(DMD):c.10425C>G:p.Tyr3475Ter	coding	Pathogenic
X	31169779	C	T	C31169779T	DMD	NM_004006.3(DMD):c.10395-178G>A	noncoding	Benign
X	31172319	C	T	C31172319T	DMD	NM_004006.3(DMD):c.10394+29G>A	noncoding	Benign
X	31173472	C	T	C31173472T	DMD	NM_004006.3(DMD):c.10328+67G>A	noncoding	Benign
X	31177970	A	T	A31177970T	DMD	NM_004006.3(DMD):c.10224T>A:p.Thr3408=	coding	Benign/Likely_benign
X	31178621	T	C	T31178621C	DMD	NM_004006.3(DMD):c.10223+48A>G	coding	Benign
X	31178664	C	A	C31178664A	DMD	NM_004006.3(DMD):c.10223+5G>T	coding	Pathogenic
X	31178664	C	G	C31178664G	DMD	NM_004006.3(DMD):c.10223+5G>C	coding	Pathogenic
X	31178665	T	C	T31178665C	DMD	NM_004006.3(DMD):c.10223+4A>G	coding	Pathogenic
X	31178700	G	A	G31178700A	DMD	NM_004006.3(DMD):c.10192C>T:p.Gln3398Ter	coding	Pathogenic
X	31178732	G	A	G31178732A	DMD	NM_004006.3(DMD):c.10160C>T:p.Ala3387Val	coding	Benign
X	31178757	T	A	T31178757A	DMD	NM_004006.3(DMD):c.10135A>T:p.Lys3379Ter	coding	Pathogenic
X	31178820	A	G	A31178820G	DMD	NM_004006.3(DMD):c.10087-15T>C	noncoding	Benign
X	31180368	A	G	A31180368G	DMD	NM_004006.3(DMD):c.10086+2T>C	noncoding	Pathogenic
X	31180384	C	A	C31180384A	DMD	NM_004006.3(DMD):c.10072G>T:p.Glu3358Ter	coding	Pathogenic
X	31180436	G	T	G31180436T	DMD	NM_004006.3(DMD):c.10020C>A:p.Cys3340Ter	coding	Pathogenic
X	31180444	G	A	G31180444A	DMD	NM_004006.3(DMD):c.10012C>T:p.Gln3338Ter	coding	Pathogenic
X	31180454	A	C	A31180454C	DMD	NM_004006.3(DMD):c.10002T>G:p.Tyr3334Ter	coding	Pathogenic
X	31180560	C	T	C31180560T	DMD	NM_004006.3(DMD):c.9975-79G>A	noncoding	Benign
X	31182736	A	G	A31182736G	DMD	NM_004006.3(DMD):c.9974+2T>C	noncoding	Pathogenic
X	31182736	A	T	A31182736T	DMD	NM_004006.3(DMD):c.9974+2T>A	noncoding	Pathogenic
X	31182760	C	A	C31182760A	DMD	NM_004006.3(DMD):c.9952G>T:p.Glu3318Ter	coding	Pathogenic
X	31182764	G	T	G31182764T	DMD	NM_004006.3(DMD):c.9948C>A:p.Cys3316Ter	coding	Pathogenic
X	31182799	C	A	C31182799A	DMD	NM_004006.3(DMD):c.9913G>T:p.Glu3305Ter	coding	Pathogenic
X	31182814	T	A	T31182814A	DMD	NM_004006.3(DMD):c.9898A>T:p.Arg3300Ter	coding	Pathogenic
X	31182830	C	T	C31182830T	DMD	NM_004006.3(DMD):c.9882G>A:p.Trp3294Ter	coding	Pathogenic
X	31182831	C	T	C31182831T	DMD	NM_004006.3(DMD):c.9881G>A:p.Trp3294Ter	coding	Pathogenic
X	31182861	C	T	C31182861T	DMD	NM_004006.3(DMD):c.9851G>A:p.Trp3284Ter	coding	Pathogenic
X	31182883	C	A	C31182883A	DMD	NM_004006.3(DMD):c.9829G>T:p.Glu3277Ter	coding	Pathogenic
X	31182905	C	T	C31182905T	DMD	NM_004006.3(DMD):c.9808-1G>A	coding	Pathogenic
X	31203956	C	G	C31203956G	DMD	NM_004006.3(DMD):c.9807+5G>C	noncoding	Pathogenic
X	31204020	C	A	C31204020A	DMD	NM_004006.3(DMD):c.9748G>T:p.Glu3250Ter	coding	Pathogenic
X	31204029	G	A	G31204029A	DMD	NM_004006.3(DMD):c.9739C>T:p.Gln3247Ter	coding	Pathogenic
X	31204107	G	A	G31204107A	DMD	NM_004006.3(DMD):c.9661C>T:p.Gln3221Ter	coding	Pathogenic
X	31204117	G	T	G31204117T	DMD	NM_004006.3(DMD):c.9651C>A:p.Tyr3217Ter	coding	Pathogenic
X	31204276	T	G	T31204276G	DMD	NM_004006.3(DMD):c.9650-158A>C	noncoding	Benign
X	31206554	G	T	G31206554T	DMD	NM_004006.3(DMD):c.9649+28C>A	noncoding	Benign
X	31206586	G	C	G31206586C	DMD	NM_004006.3(DMD):c.9645C>G:p.Tyr3215Ter	coding	Pathogenic
X	31206586	G	T	G31206586T	DMD	NM_004006.3(DMD):c.9645C>A:p.Tyr3215Ter	coding	Pathogenic
X	31206934	T	C	T31206934C	DMD	NM_004006.3(DMD):c.9564-267A>G	noncoding	Benign
X	31207203	T	G	T31207203G	DMD	NM_004006.3(DMD):c.9564-536A>C	noncoding	Benign
X	31208197	A	G	A31208197G	DMD	NM_004006.3(DMD):c.9563+1301T>C	noncoding	Benign
X	31208253	A	C	A31208253C	DMD	NM_004006.3(DMD):c.9563+1245T>G	noncoding	Benign
X	31208524	C	T	C31208524T	DMD	NM_004006.3(DMD):c.9563+974G>A	noncoding	Benign
X	31209519	C	T	C31209519T	DMD	NM_004006.3(DMD):c.9542G>A:p.Trp3181Ter	coding	Pathogenic
X	31209539	G	T	G31209539T	DMD	NM_004006.3(DMD):c.9522C>A:p.Cys3174Ter	coding	Pathogenic
X	31209574	G	A	G31209574A	DMD	NM_004006.3(DMD):c.9487C>T:p.Gln3163Ter	coding	Pathogenic
X	31209616	G	A	G31209616A	DMD	NM_004006.3(DMD):c.9445C>T:p.Gln3149Ter	coding	Pathogenic
X	31209634	G	A	G31209634A	DMD	NM_004006.3(DMD):c.9427C>T:p.Gln3143Ter	coding	Pathogenic
X	31209646	T	A	T31209646A	DMD	NM_004006.3(DMD):c.9415A>T:p.Lys3139Ter	coding	Pathogenic
X	31209658	G	A	G31209658A	DMD	NM_004006.3(DMD):c.9403C>T:p.Gln3135Ter	coding	Pathogenic
X	31209700	C	G	C31209700G	DMD	NM_004006.3(DMD):c.9362-1G>C	coding	Pathogenic
X	31209747	C	G	C31209747G	DMD	NM_004006.3(DMD):c.9362-48G>C	noncoding	Benign
X	31223048	G	T	G31223048T	DMD	NM_004006.3(DMD):c.9360C>A:p.Cys3120Ter	coding	Pathogenic
X	31223062	G	A	G31223062A	DMD	NM_004006.3(DMD):c.9346C>T:p.Gln3116Ter	coding	Pathogenic
X	31223097	G	T	G31223097T	DMD	NM_004006.3(DMD):c.9311C>A:p.Ser3104Ter	coding	Pathogenic/Likely_pathogenic
X	31223122	C	T	C31223122T	DMD	NM_004006.3(DMD):c.9287-1G>A	coding	Pathogenic
X	31223123	T	A	T31223123A	DMD	NM_004006.3(DMD):c.9287-2A>T	noncoding	Pathogenic
X	31223132	G	A	G31223132A	DMD	NM_004006.3(DMD):c.9287-11C>T	noncoding	Benign
X	31223240	T	C	T31223240C	DMD	NM_004006.3(DMD):c.9287-119A>G	noncoding	Benign
X	31260299	T	G	T31260299G	DMD	NM_004006.3(DMD):c.9286+656A>C	noncoding	Benign
X	31260905	C	A	C31260905A	DMD	NM_004006.3(DMD):c.9286+50G>T	noncoding	Benign
X	31260942	G	A	G31260942A	DMD	NM_004006.3(DMD):c.9286+13C>T	noncoding	Benign
X	31260957	A	C	A31260957C	DMD	NM_004006.3(DMD):c.9284T>G:p.Leu3095Ter	coding	Pathogenic
X	31260965	G	T	G31260965T	DMD	NM_004006.3(DMD):c.9276C>A:p.Tyr3092Ter	coding	Pathogenic
X	31260973	C	A	C31260973A	DMD	NM_004006.3(DMD):c.9268G>T:p.Glu3090Ter	coding	Pathogenic
X	31260992	C	T	C31260992T	DMD	NM_004006.3(DMD):c.9249G>A:p.Trp3083Ter	coding	Pathogenic
X	31260993	C	T	C31260993T	DMD	NM_004006.3(DMD):c.9248G>A:p.Trp3083Ter	coding	Pathogenic
X	31261623	G	T	G31261623T	DMD	NM_004006.3(DMD):c.9225-607C>A	noncoding	Benign
X	31323640	C	T	C31323640T	DMD	NM_004006.3(DMD):c.9182G>A:p.Trp3061Ter	coding	Pathogenic
X	31323660	T	C	T31323660C	DMD	NM_004006.3(DMD):c.9164-2A>G	noncoding	Pathogenic
X	31323706	C	T	C31323706T	DMD	NM_004006.3(DMD):c.9164-48G>A	noncoding	Benign
X	31348548	T	C	T31348548C	DMD	NM_004006.3(DMD):c.9163+8A>G	noncoding	Benign
X	31348555	C	T	C31348555T	DMD	NM_004006.3(DMD):c.9163+1G>A	noncoding	Pathogenic
X	31348610	G	A	G31348610A	DMD	NM_004006.3(DMD):c.9109C>T:p.Gln3037Ter	coding	Pathogenic
X	31348635	C	T	C31348635T	DMD	NM_004006.3(DMD):c.9085-1G>A	coding	Pathogenic
X	31364337	T	C	T31364337C	DMD	NM_004006.3(DMD):c.9085-15703A>G	noncoding	Benign
X	31444483	G	A	G31444483A	DMD	NM_004006.3(DMD):c.9082C>T:p.Gln3028Ter	coding	Pathogenic
X	31444493	C	T	C31444493T	DMD	NM_004006.3(DMD):c.9072G>A:p.Trp3024Ter	coding	Pathogenic
X	31444529	A	T	A31444529T	DMD	NM_004006.3(DMD):c.9036T>A:p.Tyr3012Ter	coding	Pathogenic
X	31444536	G	C	G31444536C	DMD	NM_004006.3(DMD):c.9029C>G:p.Ser3010Ter	coding	Pathogenic
X	31444551	A	T	A31444551T	DMD	NM_004006.3(DMD):c.9014T>A:p.Leu3005Ter	coding	Pathogenic/Likely_pathogenic
X	31444564	G	A	G31444564A	DMD	NM_004006.3(DMD):c.9001C>T:p.Gln3001Ter	coding	Pathogenic
X	31444600	T	A	T31444600A	DMD	NM_004006.3(DMD):c.8965A>T:p.Lys2989Ter	coding	Pathogenic/Likely_pathogenic
X	31444618	C	A	C31444618A	DMD	NM_004006.3(DMD):c.8947G>T:p.Gly2983Ter	coding	Pathogenic
X	31478171	C	A	C31478171A	DMD	NM_004006.3(DMD):c.8872G>T:p.Gly2958Ter	coding	Pathogenic
X	31478189	G	A	G31478189A	DMD	NM_004006.3(DMD):c.8854C>T:p.Gln2952Ter	coding	Pathogenic
X	31478231	C	A	C31478231A	DMD	NM_004006.3(DMD):c.8812G>T:p.Glu2938Ter	coding	Pathogenic
X	31478252	C	A	C31478252A	DMD	NM_004006.3(DMD):c.8791G>T:p.Glu2931Ter	coding	Pathogenic
X	31478267	G	A	G31478267A	DMD	NM_004006.3(DMD):c.8776C>T:p.Gln2926Ter	coding	Pathogenic
X	31478269	C	T	C31478269T	DMD	NM_004006.3(DMD):c.8774G>A:p.Trp2925Ter	coding	Pathogenic
X	31478286	G	A	G31478286A	DMD	NM_004006.3(DMD):c.8757C>T:p.Asn2919=	coding	Benign/Likely_benign
X	31478297	C	A	C31478297A	DMD	NM_004006.3(DMD):c.8746G>T:p.Glu2916Ter	coding	Pathogenic
X	31478298	C	T	C31478298T	DMD	NM_004006.3(DMD):c.8745G>A:p.Trp2915Ter	coding	Pathogenic
X	31478303	C	A	C31478303A	DMD	NM_004006.3(DMD):c.8740G>T:p.Glu2914Ter	coding	Pathogenic
X	31478315	C	A	C31478315A	DMD	NM_004006.3(DMD):c.8728G>T:p.Glu2910Ter	coding	Pathogenic
X	31478351	G	A	G31478351A	DMD	NM_004006.3(DMD):c.8692C>T:p.Gln2898Ter	coding	Pathogenic
X	31478357	T	A	T31478357A	DMD	NM_004006.3(DMD):c.8686A>T:p.Arg2896Ter	coding	Pathogenic
X	31478459	G	A	G31478459A	DMD	NM_004006.3(DMD):c.8669-85C>T	noncoding	Benign
X	31478982	C	T	C31478982T	DMD	NM_004006.3(DMD):c.8668+1G>A	noncoding	Pathogenic
X	31479079	T	A	T31479079A	DMD	NM_004006.3(DMD):c.8572A>T:p.Lys2858Ter	coding	Pathogenic
X	31479105	T	C	T31479105C	DMD	NM_004006.3(DMD):c.8548-2A>G	noncoding	Pathogenic
X	31479252	T	C	T31479252C	DMD	NM_004006.3(DMD):c.8548-149A>G	noncoding	Benign
X	31479352	A	G	A31479352G	DMD	NM_004006.3(DMD):c.8548-249T>C	noncoding	Benign
X	31496768	G	A	G31496768A	DMD	NM_004006.3(DMD):c.8547+20C>T	noncoding	Benign
X	31496808	T	A	T31496808A	DMD	NM_004006.3(DMD):c.8527A>T:p.Lys2843Ter	coding	Pathogenic
X	31496844	G	A	G31496844A	DMD	NM_004006.3(DMD):c.8491C>T:p.Gln2831Ter	coding	Pathogenic
X	31496852	A	C	A31496852C	DMD	NM_004006.3(DMD):c.8483T>G:p.Leu2828Ter	coding	Pathogenic
X	31496856	C	A	C31496856A	DMD	NM_004006.3(DMD):c.8479G>T:p.Glu2827Ter	coding	Pathogenic
X	31496871	G	A	G31496871A	DMD	NM_004006.3(DMD):c.8464C>T:p.Gln2822Ter	coding	Pathogenic
X	31496876	C	T	C31496876T	DMD	NM_004006.3(DMD):c.8459G>A:p.Trp2820Ter	coding	Pathogenic/Likely_pathogenic
X	31496889	C	A	C31496889A	DMD	NM_004006.3(DMD):c.8446G>T:p.Glu2816Ter	coding	Pathogenic
X	31496913	T	A	T31496913A	DMD	NM_004006.3(DMD):c.8422A>T:p.Lys2808Ter	coding	Pathogenic
X	31496914	C	T	C31496914T	DMD	NM_004006.3(DMD):c.8421G>A:p.Trp2807Ter	coding	Pathogenic
X	31496915	C	T	C31496915T	DMD	NM_004006.3(DMD):c.8420G>A:p.Trp2807Ter	coding	Pathogenic
X	31496919	G	A	G31496919A	DMD	NM_004006.3(DMD):c.8416C>T:p.Gln2806Ter	coding	Pathogenic
X	31496962	C	T	C31496962T	DMD	NM_004006.3(DMD):c.8391-18G>A	noncoding	Benign/Likely_benign
X	31507261	T	A	T31507261A	DMD	NM_004006.3(DMD):c.8390+20A>T	noncoding	Benign
X	31507261	T	G	T31507261G	DMD	NM_004006.3(DMD):c.8390+20A>C	noncoding	Benign
X	31507263	C	T	C31507263T	DMD	NM_004006.3(DMD):c.8390+18G>A	noncoding	Benign
X	31507297	T	A	T31507297A	DMD	NM_004006.3(DMD):c.8374A>T:p.Lys2792Ter	coding	Pathogenic
X	31507318	T	A	T31507318A	DMD	NM_004006.3(DMD):c.8353A>T:p.Lys2785Ter	coding	Pathogenic
X	31507364	G	A	G31507364A	DMD	NM_004006.3(DMD):c.8307C>T:p.Ser2769=	coding	Benign/Likely_benign
X	31507402	C	A	C31507402A	DMD	NM_004006.3(DMD):c.8269G>T:p.Glu2757Ter	coding	Pathogenic
X	31507441	C	A	C31507441A	DMD	NM_004006.3(DMD):c.8230G>T:p.Glu2744Ter	coding	Pathogenic
X	31507447	G	A	G31507447A	DMD	NM_004006.3(DMD):c.8224C>T:p.Gln2742Ter	coding	Pathogenic
X	31508083	C	T	C31508083T	DMD	NM_004006.3(DMD):c.8218-630G>A	noncoding	Benign
X	31508235	C	T	C31508235T	DMD	NM_004006.3(DMD):c.8218-782G>A	coding	Benign
X	31627671	A	C	A31627671C	DMD	NM_004006.3(DMD):c.8217+2T>G	noncoding	Pathogenic
X	31627675	G	A	G31627675A	DMD	NM_004006.3(DMD):c.8215C>T:p.Gln2739Ter	coding	Pathogenic
X	31627684	T	A	T31627684A	DMD	NM_004006.3(DMD):c.8206A>T:p.Lys2736Ter	coding	Pathogenic/Likely_pathogenic
X	31627696	T	A	T31627696A	DMD	NM_004006.3(DMD):c.8194A>T:p.Lys2732Ter	coding	Pathogenic
X	31627714	C	A	C31627714A	DMD	NM_004006.3(DMD):c.8176G>T:p.Glu2726Ter	coding	Pathogenic
X	31627729	T	A	T31627729A	DMD	NM_004006.3(DMD):c.8161A>T:p.Lys2721Ter	coding	Pathogenic
X	31627779	C	T	C31627779T	DMD	NM_004006.3(DMD):c.8111G>A:p.Trp2704Ter	coding	Pathogenic
X	31627792	T	A	T31627792A	DMD	NM_004006.3(DMD):c.8098A>T:p.Lys2700Ter	coding	Pathogenic
X	31627816	G	A	G31627816A	DMD	NM_004006.3(DMD):c.8074C>T:p.Gln2692Ter	coding	Pathogenic
X	31627837	C	A	C31627837A	DMD	NM_004006.3(DMD):c.8053G>T:p.Glu2685Ter	coding	Pathogenic
X	31627838	C	T	C31627838T	DMD	NM_004006.3(DMD):c.8052G>A:p.Leu2684=	coding	Benign
X	31627863	C	A	C31627863A	DMD	NM_004006.3(DMD):c.8028-1G>T	coding	Pathogenic
X	31627863	C	T	C31627863T	DMD	NM_004006.3(DMD):c.8028-1G>A	coding	Pathogenic
X	31627904	G	T	G31627904T	DMD	NM_004006.3(DMD):c.8028-42C>A	noncoding	Benign
X	31657945	C	T	C31657945T	DMD	NM_004006.3(DMD):c.8027+45G>A	noncoding	Benign
X	31657969	T	C	T31657969C	DMD	NM_004006.3(DMD):c.8027+21A>G	noncoding	Benign
X	31657972	A	G	A31657972G	DMD	NM_004006.3(DMD):c.8027+18T>C	noncoding	Benign/Likely_benign
X	31657977	A	C	A31657977C	DMD	NM_004006.3(DMD):c.8027+13T>G	noncoding	Benign/Likely_benign
X	31658008	C	T	C31658008T	DMD	NM_004006.3(DMD):c.8009G>A:p.Trp2670Ter	coding	Pathogenic
X	31658048	T	A	T31658048A	DMD	NM_004006.3(DMD):c.7969A>T:p.Arg2657Ter	coding	Pathogenic
X	31658119	C	T	C31658119T	DMD	NM_004006.3(DMD):c.7898G>A:p.Trp2633Ter	coding	Pathogenic
X	31658144	G	A	G31658144A	DMD	NM_004006.3(DMD):c.7873C>T:p.Gln2625Ter	coding	Pathogenic
X	31679383	C	A	C31679383A	DMD	NM_004006.3(DMD):c.7864G>T:p.Glu2622Ter	coding	Pathogenic
X	31679392	T	A	T31679392A	DMD	NM_004006.3(DMD):c.7855A>T:p.Lys2619Ter	coding	Pathogenic
X	31679425	C	A	C31679425A	DMD	NM_004006.3(DMD):c.7822G>T:p.Glu2608Ter	coding	Pathogenic
X	31679433	G	C	G31679433C	DMD	NM_004006.3(DMD):c.7814C>G:p.Ser2605Ter	coding	Pathogenic
X	31679455	G	A	G31679455A	DMD	NM_004006.3(DMD):c.7792C>T:p.Gln2598Ter	coding	Pathogenic
X	31679467	G	A	G31679467A	DMD	NM_004006.3(DMD):c.7780C>T:p.Gln2594Ter	coding	Pathogenic
X	31679497	G	A	G31679497A	DMD	NM_004006.3(DMD):c.7750C>T:p.Gln2584Ter	coding	Pathogenic
X	31679554	G	A	G31679554A	DMD	NM_004006.3(DMD):c.7693C>T:p.Gln2565Ter	coding	Pathogenic
X	31727368	T	C	T31727368C	DMD	NM_004006.3(DMD):c.7660+2263A>G	noncoding	Benign
X	31729630	C	G	C31729630G	DMD	NM_004006.3(DMD):c.7660+1G>C	noncoding	Pathogenic/Likely_pathogenic
X	31729688	G	A	G31729688A	DMD	NM_004006.3(DMD):c.7603C>T:p.Gln2535Ter	coding	Pathogenic
X	31729706	C	A	C31729706A	DMD	NM_004006.3(DMD):c.7585G>T:p.Glu2529Ter	coding	Pathogenic
X	31729709	C	A	C31729709A	DMD	NM_004006.3(DMD):c.7582G>T:p.Glu2528Ter	coding	Pathogenic
X	31729715	G	A	G31729715A	DMD	NM_004006.3(DMD):c.7576C>T:p.Gln2526Ter	coding	Pathogenic
X	31729730	C	A	C31729730A	DMD	NM_004006.3(DMD):c.7561G>T:p.Glu2521Ter	coding	Pathogenic
X	31773959	C	T	C31773959T	DMD	NM_004006.3(DMD):c.7542+1G>A	noncoding	Pathogenic
X	31773965	G	A	G31773965A	DMD	NM_004006.3(DMD):c.7537C>T:p.Gln2513Ter	coding	Pathogenic
X	31773992	C	A	C31773992A	DMD	NM_004006.3(DMD):c.7510G>T:p.Glu2504Ter	coding	Pathogenic
X	31774031	G	A	G31774031A	DMD	NM_004006.3(DMD):c.7471C>T:p.Gln2491Ter	coding	Pathogenic
X	31774065	C	T	C31774065T	DMD	NM_004006.3(DMD):c.7437G>A:p.Trp2479Ter	coding	Pathogenic
X	31774163	G	A	G31774163A	DMD	NM_004006.3(DMD):c.7339C>T:p.Gln2447Ter	coding	Pathogenic
X	31774184	G	A	G31774184A	DMD	NM_004006.3(DMD):c.7318C>T:p.Gln2440Ter	coding	Pathogenic
X	31774221	G	C	G31774221C	DMD	NM_004006.3(DMD):c.7310-29C>G	noncoding	Benign
X	31819799	A	G	A31819799G	DMD	NM_004006.3(DMD):c.7309+176T>C	noncoding	Benign
X	31819996	C	A	C31819996A	DMD	NM_004006.3(DMD):c.7288G>T:p.Gly2430Ter	coding	Pathogenic
X	31820029	C	A	C31820029A	DMD	NM_004006.3(DMD):c.7255G>T:p.Glu2419Ter	coding	Pathogenic
X	31820055	C	T	C31820055T	DMD	NM_004006.3(DMD):c.7229G>A:p.Trp2410Ter	coding	Pathogenic
X	31820080	T	A	T31820080A	DMD	NM_004006.3(DMD):c.7204A>T:p.Lys2402Ter	coding	Pathogenic
X	31820098	C	T	C31820098T	DMD	NM_004006.3(DMD):c.7201-15G>A	noncoding	Benign
X	31836665	G	C	G31836665C	DMD	NM_004006.3(DMD):c.7200+53C>G	noncoding	Benign
X	31836792	G	A	G31836792A	DMD	NM_004006.3(DMD):c.7126C>T:p.Gln2376Ter	coding	Pathogenic
X	31875211	G	A	G31875211A	DMD	NM_004006.3(DMD):c.7075C>T:p.Gln2359Ter	coding	Pathogenic
X	31875232	C	A	C31875232A	DMD	NM_004006.3(DMD):c.7054G>T:p.Glu2352Ter	coding	Pathogenic
X	31875238	G	A	G31875238A	DMD	NM_004006.3(DMD):c.7048C>T:p.Gln2350Ter	coding	Pathogenic
X	31875255	A	T	A31875255T	DMD	NM_004006.3(DMD):c.7031T>A:p.Leu2344Ter	coding	Pathogenic
X	31875276	A	C	A31875276C	DMD	NM_004006.3(DMD):c.7010T>G:p.Leu2337Ter	coding	Pathogenic
X	31875280	G	A	G31875280A	DMD	NM_004006.3(DMD):c.7006C>T:p.Gln2336Ter	coding	Pathogenic
X	31875313	G	A	G31875313A	DMD	NM_004006.3(DMD):c.6973C>T:p.Gln2325Ter	coding	Pathogenic
X	31875337	C	A	C31875337A	DMD	NM_004006.3(DMD):c.6949G>T:p.Glu2317Ter	coding	Pathogenic
X	31875343	C	A	C31875343A	DMD	NM_004006.3(DMD):c.6943G>T:p.Glu2315Ter	coding	Pathogenic
X	31875349	G	A	G31875349A	DMD	NM_004006.3(DMD):c.6937C>T:p.Gln2313Ter	coding	Pathogenic
X	31879235	G	A	G31879235A	DMD	NM_004006.3(DMD):c.6913-3862C>T	noncoding	Benign
X	31929584	T	A	T31929584A	DMD	NM_004006.3(DMD):c.6912+12A>T	noncoding	Benign/Likely_benign
X	31929603	C	T	C31929603T	DMD	NM_004006.3(DMD):c.6905G>A:p.Trp2302Ter	coding	Pathogenic
X	31929628	T	A	T31929628A	DMD	NM_004006.3(DMD):c.6880A>T:p.Lys2294Ter	coding	Pathogenic
X	31929640	T	A	T31929640A	DMD	NM_004006.3(DMD):c.6868A>T:p.Lys2290Ter	coding	Pathogenic
X	31929646	G	A	G31929646A	DMD	NM_004006.3(DMD):c.6862C>T:p.Gln2288Ter	coding	Pathogenic
X	31929652	C	A	C31929652A	DMD	NM_004006.3(DMD):c.6856G>T:p.Glu2286Ter	coding	Pathogenic
X	31929671	T	G	T31929671G	DMD	NM_004006.3(DMD):c.6837A>C:p.Val2279=	coding	Benign/Likely_benign
X	31929694	C	A	C31929694A	DMD	NM_004006.3(DMD):c.6814G>T:p.Glu2272Ter	coding	Pathogenic
X	31929699	A	C	A31929699C	DMD	NM_004006.3(DMD):c.6809T>G:p.Leu2270Ter	coding	Pathogenic
X	31929703	G	A	G31929703A	DMD	NM_004006.3(DMD):c.6805C>T:p.Gln2269Ter	coding	Pathogenic
X	31931896	A	G	A31931896G	DMD	NM_004006.3(DMD):c.6762+184T>C	noncoding	Benign
X	31932100	C	A	C31932100A	DMD	NM_004006.3(DMD):c.6742G>T:p.Glu2248Ter	coding	Pathogenic
X	31932112	G	A	G31932112A	DMD	NM_004006.3(DMD):c.6730C>T:p.Gln2244Ter	coding	Pathogenic
X	31932121	C	A	C31932121A	DMD	NM_004006.3(DMD):c.6721G>T:p.Gly2241Ter	coding	Pathogenic
X	31932164	C	T	C31932164T	DMD	NM_004006.3(DMD):c.6678G>A:p.Trp2226Ter	coding	Pathogenic
X	31932165	C	T	C31932165T	DMD	NM_004006.3(DMD):c.6677G>A:p.Trp2226Ter	coding	Pathogenic
X	31932168	A	C	A31932168C	DMD	NM_004006.3(DMD):c.6674T>G:p.Leu2225Ter	coding	Pathogenic
X	31932183	A	C	A31932183C	DMD	NM_004006.3(DMD):c.6659T>G:p.Leu2220Ter	coding	Pathogenic
X	31932201	G	T	G31932201T	DMD	NM_004006.3(DMD):c.6641C>A:p.Ser2214Ter	coding	Pathogenic
X	31968338	C	G	C31968338G	DMD	NM_004006.3(DMD):c.6614+1G>C	noncoding	Pathogenic
X	31968346	T	A	T31968346A	DMD	NM_004006.3(DMD):c.6607A>T:p.Lys2203Ter	coding	Pathogenic
X	31968351	T	C	T31968351C	DMD	NM_004006.3(DMD):c.6602A>G:p.Asp2201Gly	coding	Benign
X	31968361	G	A	G31968361A	DMD	NM_004006.3(DMD):c.6592C>T:p.Gln2198Ter	coding	Pathogenic
X	31968377	C	T	C31968377T	DMD	NM_004006.3(DMD):c.6576G>A:p.Trp2192Ter	coding	Pathogenic
X	31968403	T	A	T31968403A	DMD	NM_004006.3(DMD):c.6550A>T:p.Lys2184Ter	coding	Pathogenic
X	31968406	C	A	C31968406A	DMD	NM_004006.3(DMD):c.6547G>T:p.Glu2183Ter	coding	Pathogenic
X	31968439	G	A	G31968439A	DMD	NM_004006.3(DMD):c.6514C>T:p.Gln2172Ter	coding	Pathogenic
X	31968468	A	T	A31968468T	DMD	NM_004006.3(DMD):c.6485T>A:p.Leu2162Ter	coding	Pathogenic
X	31968491	C	T	C31968491T	DMD	NM_004006.3(DMD):c.6462G>A:p.Gln2154=	coding	Benign
X	31968493	G	A	G31968493A	DMD	NM_004006.3(DMD):c.6460C>T:p.Gln2154Ter	coding	Pathogenic
X	31968508	G	A	G31968508A	DMD	NM_004006.3(DMD):c.6445C>T:p.Gln2149Ter	coding	Pathogenic
X	31968514	C	A	C31968514A	DMD	NM_004006.3(DMD):c.6439G>T:p.Glu2147Ter	coding	Pathogenic
X	32155550	T	C	T32155550C	DMD	NM_004006.3(DMD):c.6438+61366A>G	noncoding	Benign
X	32216918	T	A	T32216918A	DMD	NM_004006.3(DMD):c.6436A>T:p.Lys2146Ter	coding	Pathogenic
X	32216922	A	T	A32216922T	DMD	NM_004006.3(DMD):c.6432T>A:p.Tyr2144Ter	coding	Pathogenic
X	32216925	C	T	C32216925T	DMD	NM_004006.3(DMD):c.6429G>A:p.Trp2143Ter	coding	Pathogenic
X	32216963	G	A	G32216963A	DMD	NM_004006.3(DMD):c.6391C>T:p.Gln2131Ter	coding	Pathogenic
X	32216984	C	A	C32216984A	DMD	NM_004006.3(DMD):c.6370G>T:p.Glu2124Ter	coding	Pathogenic
X	32216990	C	A	C32216990A	DMD	NM_004006.3(DMD):c.6364G>T:p.Glu2122Ter	coding	Pathogenic
X	32217002	G	A	G32217002A	DMD	NM_004006.3(DMD):c.6352C>T:p.Gln2118Ter	coding	Pathogenic
X	32217036	C	T	C32217036T	DMD	NM_004006.3(DMD):c.6318G>A:p.Trp2106Ter	coding	Pathogenic
X	32217044	C	A	C32217044A	DMD	NM_004006.3(DMD):c.6310G>T:p.Glu2104Ter	coding	Pathogenic
X	32287502	A	T	A32287502T	DMD	NM_004006.3(DMD):c.6290+27T>A	noncoding	Benign
X	32287514	A	G	A32287514G	DMD	NM_004006.3(DMD):c.6290+15T>C	noncoding	Benign
X	32287533	G	A	G32287533A	DMD	NM_004006.3(DMD):c.6286C>T:p.Gln2096Ter	coding	Pathogenic
X	32287542	T	A	T32287542A	DMD	NM_004006.3(DMD):c.6277A>T:p.Lys2093Ter	coding	Pathogenic
X	32287560	T	A	T32287560A	DMD	NM_004006.3(DMD):c.6259A>T:p.Lys2087Ter	coding	Pathogenic
X	32287563	C	A	C32287563A	DMD	NM_004006.3(DMD):c.6256G>T:p.Glu2086Ter	coding	Pathogenic
X	32287564	C	T	C32287564T	DMD	NM_004006.3(DMD):c.6255G>A:p.Trp2085Ter	coding	Pathogenic
X	32287565	C	T	C32287565T	DMD	NM_004006.3(DMD):c.6254G>A:p.Trp2085Ter	coding	Pathogenic
X	32287569	G	A	G32287569A	DMD	NM_004006.3(DMD):c.6250C>T:p.Gln2084Ter	coding	Pathogenic
X	32287581	G	A	G32287581A	DMD	NM_004006.3(DMD):c.6238C>T:p.Gln2080Ter	coding	Pathogenic
X	32287629	G	A	G32287629A	DMD	NM_004006.3(DMD):c.6190C>T:p.Gln2064Ter	coding	Pathogenic
X	32287631	A	T	A32287631T	DMD	NM_004006.3(DMD):c.6188T>A:p.Leu2063Ter	coding	Pathogenic
X	32287651	A	G	A32287651G	DMD	NM_004006.3(DMD):c.6168T>C:p.His2056=	coding	Benign
X	32287673	G	C	G32287673C	DMD	NM_004006.3(DMD):c.6146C>G:p.Ser2049Ter	coding	Pathogenic
X	32287683	G	A	G32287683A	DMD	NM_004006.3(DMD):c.6136C>T:p.Gln2046Ter	coding	Pathogenic
X	32287844	G	T	G32287844T	DMD	NM_004006.3(DMD):c.6118-143C>A	noncoding	Benign
X	32310059	G	T	G32310059T	DMD	NM_004006.3(DMD):c.6117+23C>A	noncoding	Benign
X	32310093	C	A	C32310093A	DMD	NM_004006.3(DMD):c.6106G>T:p.Glu2036Ter	coding	Pathogenic
X	32310096	C	A	C32310096A	DMD	NM_004006.3(DMD):c.6103G>T:p.Glu2035Ter	coding	Pathogenic
X	32310114	C	A	C32310114A	DMD	NM_004006.3(DMD):c.6085G>T:p.Glu2029Ter	coding	Pathogenic
X	32310162	C	A	C32310162A	DMD	NM_004006.3(DMD):c.6037G>T:p.Glu2013Ter	coding	Pathogenic
X	32310164	A	C	A32310164C	DMD	NM_004006.3(DMD):c.6035T>G:p.Leu2012Ter	coding	Pathogenic
X	32310192	C	A	C32310192A	DMD	NM_004006.3(DMD):c.6007G>T:p.Glu2003Ter	coding	Pathogenic
X	32310256	C	T	C32310256T	DMD	NM_004006.3(DMD):c.5943G>A:p.Thr1981=	coding	Benign/Likely_benign
X	32342120	T	A	T32342120A	DMD	NM_004006.3(DMD):c.5902A>T:p.Arg1968Ter	coding	Pathogenic
X	32342129	G	A	G32342129A	DMD	NM_004006.3(DMD):c.5893C>T:p.Gln1965Ter	coding	Pathogenic
X	32342144	C	A	C32342144A	DMD	NM_004006.3(DMD):c.5878G>T:p.Glu1960Ter	coding	Pathogenic
X	32342252	C	A	C32342252A	DMD	NM_004006.3(DMD):c.5770G>T:p.Glu1924Ter	coding	Pathogenic
X	32342258	T	A	T32342258A	DMD	NM_004006.3(DMD):c.5764A>T:p.Lys1922Ter	coding	Pathogenic
X	32342261	T	A	T32342261A	DMD	NM_004006.3(DMD):c.5761A>T:p.Lys1921Ter	coding	Pathogenic
X	32342270	C	A	C32342270A	DMD	NM_004006.3(DMD):c.5752G>T:p.Glu1918Ter	coding	Pathogenic
X	32342283	C	A	C32342283A	DMD	NM_004006.3(DMD):c.5740-1G>T	coding	Pathogenic
X	32342283	C	T	C32342283T	DMD	NM_004006.3(DMD):c.5740-1G>A	coding	Pathogenic
X	32342284	T	A	T32342284A	DMD	NM_004006.3(DMD):c.5740-2A>T	noncoding	Pathogenic
X	32342284	T	C	T32342284C	DMD	NM_004006.3(DMD):c.5740-2A>G	noncoding	Pathogenic
X	32342349	C	A	C32342349A	DMD	NM_004006.3(DMD):c.5740-67G>T	noncoding	Benign
X	32342824	C	T	C32342824T	DMD	NM_004006.3(DMD):c.5739+310G>A	noncoding	Benign
X	32342916	C	T	C32342916T	DMD	NM_004006.3(DMD):c.5739+218G>A	noncoding	Benign
X	32343095	A	G	A32343095G	DMD	NM_004006.3(DMD):c.5739+39T>C	noncoding	Benign
X	32343095	A	T	A32343095T	DMD	NM_004006.3(DMD):c.5739+39T>A	noncoding	Benign
X	32343106	T	G	T32343106G	DMD	NM_004006.3(DMD):c.5739+28A>C	noncoding	Benign
X	32343122	A	C	A32343122C	DMD	NM_004006.3(DMD):c.5739+12T>G	noncoding	Benign
X	32343142	T	A	T32343142A	DMD	NM_004006.3(DMD):c.5731A>T:p.Lys1911Ter	coding	Pathogenic
X	32343148	C	A	C32343148A	DMD	NM_004006.3(DMD):c.5725G>T:p.Glu1909Ter	coding	Pathogenic
X	32343227	G	C	G32343227C	DMD	NM_004006.3(DMD):c.5646C>G:p.Tyr1882Ter	coding	Pathogenic
X	32343227	G	T	G32343227T	DMD	NM_004006.3(DMD):c.5646C>A:p.Tyr1882Ter	coding	Pathogenic
X	32343236	C	T	C32343236T	DMD	NM_004006.3(DMD):c.5637G>A:p.Trp1879Ter	coding	Pathogenic
X	32343241	G	A	G32343241A	DMD	NM_004006.3(DMD):c.5632C>T:p.Gln1878Ter	coding	Pathogenic
X	32343262	T	A	T32343262A	DMD	NM_004006.3(DMD):c.5611A>T:p.Lys1871Ter	coding	Pathogenic
X	32343265	T	A	T32343265A	DMD	NM_004006.3(DMD):c.5608A>T:p.Lys1870Ter	coding	Pathogenic
X	32343274	G	A	G32343274A	DMD	NM_004006.3(DMD):c.5599C>T:p.Gln1867Ter	coding	Pathogenic
X	32343299	C	T	C32343299T	DMD	NM_004006.3(DMD):c.5587-13G>A	noncoding	Benign
X	32345901	A	G	A32345901G	DMD	NM_004006.3(DMD):c.5586+42T>C	noncoding	Benign
X	32345926	A	T	A32345926T	DMD	NM_004006.3(DMD):c.5586+17T>A	noncoding	Benign
X	32345967	T	C	T32345967C	DMD	NM_004006.3(DMD):c.5562A>G:p.Leu1854=	coding	Benign
X	32345987	T	A	T32345987A	DMD	NM_004006.3(DMD):c.5542A>T:p.Lys1848Ter	coding	Pathogenic
X	32346008	C	A	C32346008A	DMD	NM_004006.3(DMD):c.5521G>T:p.Glu1841Ter	coding	Pathogenic
X	32346019	C	G	C32346019G	DMD	NM_004006.3(DMD):c.5510G>C:p.Arg1837Thr	coding	Benign
X	32346026	G	A	G32346026A	DMD	NM_004006.3(DMD):c.5503C>T:p.Gln1835Ter	coding	Pathogenic
X	32346041	T	A	T32346041A	DMD	NM_004006.3(DMD):c.5488A>T:p.Arg1830Ter	coding	Pathogenic
X	32346044	G	A	G32346044A	DMD	NM_004006.3(DMD):c.5485C>T:p.Gln1829Ter	coding	Pathogenic
X	32346053	C	A	C32346053A	DMD	NM_004006.3(DMD):c.5476G>T:p.Glu1826Ter	coding	Pathogenic/Likely_pathogenic
X	32346060	A	G	A32346060G	DMD	NM_004006.3(DMD):c.5469T>C:p.Thr1823=	coding	Benign
X	32346081	C	G	C32346081G	DMD	NM_004006.3(DMD):c.5449-1G>C	coding	Pathogenic
X	32346081	C	T	C32346081T	DMD	NM_004006.3(DMD):c.5449-1G>A	coding	Pathogenic
X	32346082	T	C	T32346082C	DMD	NM_004006.3(DMD):c.5449-2A>G	noncoding	Pathogenic
X	32348237	T	A	T32348237A	DMD	NM_004006.3(DMD):c.5448+169A>T	noncoding	Benign
X	32348397	C	T	C32348397T	DMD	NM_004006.3(DMD):c.5448+9G>A	noncoding	Benign
X	32348450	G	A	G32348450A	DMD	NM_004006.3(DMD):c.5404C>T:p.Gln1802Ter	coding	Pathogenic
X	32348456	C	A	C32348456A	DMD	NM_004006.3(DMD):c.5398G>T:p.Glu1800Ter	coding	Pathogenic
X	32348471	C	A	C32348471A	DMD	NM_004006.3(DMD):c.5383G>T:p.Glu1795Ter	coding	Pathogenic/Likely_pathogenic
X	32348513	T	A	T32348513A	DMD	NM_004006.3(DMD):c.5341A>T:p.Lys1781Ter	coding	Pathogenic
X	32362774	G	A	G32362774A	DMD	NM_004006.3(DMD):c.5325+14C>T	noncoding	Benign
X	32362805	T	A	T32362805A	DMD	NM_004006.3(DMD):c.5308A>T:p.Arg1770Ter	coding	Pathogenic
X	32362840	G	T	G32362840T	DMD	NM_004006.3(DMD):c.5273C>A:p.Ser1758Ter	coding	Pathogenic
X	32362853	C	A	C32362853A	DMD	NM_004006.3(DMD):c.5260G>T:p.Glu1754Ter	coding	Pathogenic
X	32362866	G	T	G32362866T	DMD	NM_004006.3(DMD):c.5247C>A:p.Cys1749Ter	coding	Pathogenic
X	32362878	G	A	G32362878A	DMD	NM_004006.3(DMD):c.5235C>T:p.Arg1745=	coding	Benign/Likely_benign
X	32362904	G	A	G32362904A	DMD	NM_004006.3(DMD):c.5209C>T:p.Gln1737Ter	coding	Pathogenic
X	32362954	A	C	A32362954C	DMD	NM_004006.3(DMD):c.5159T>G:p.Leu1720Ter	coding	Pathogenic
X	32362954	A	T	A32362954T	DMD	NM_004006.3(DMD):c.5159T>A:p.Leu1720Ter	coding	Pathogenic
X	32362970	G	A	G32362970A	DMD	NM_004006.3(DMD):c.5155-12C>T	noncoding	Benign
X	32363021	A	T	A32363021T	DMD	NM_004006.3(DMD):c.5155-63T>A	noncoding	Benign
X	32364568	A	T	A32364568T	DMD	NM_004006.3(DMD):c.5154+14T>A	noncoding	Benign
X	32364580	A	C	A32364580C	DMD	NM_004006.3(DMD):c.5154+2T>G	noncoding	Pathogenic
X	32364581	C	T	C32364581T	DMD	NM_004006.3(DMD):c.5154+1G>A	noncoding	Pathogenic
X	32364588	C	T	C32364588T	DMD	NM_004006.3(DMD):c.5148G>A:p.Val1716=	coding	Benign
X	32364688	G	C	G32364688C	DMD	NM_004006.3(DMD):c.5048C>G:p.Thr1683Ser	coding	Benign/Likely_benign
X	32364692	C	A	C32364692A	DMD	NM_004006.3(DMD):c.5044G>T:p.Glu1682Ter	coding	Pathogenic
X	32364705	G	T	G32364705T	DMD	NM_004006.3(DMD):c.5031C>A:p.Tyr1677Ter	coding	Pathogenic
X	32364730	A	T	A32364730T	DMD	NM_004006.3(DMD):c.5026-20T>A	noncoding	Benign/Likely_benign
X	32364769	T	C	T32364769C	DMD	NM_004006.3(DMD):c.5026-59A>G	noncoding	Benign
X	32365001	T	A	T32365001A	DMD	NM_004006.3(DMD):c.5025+19A>T	noncoding	Benign
X	32365004	T	C	T32365004C	DMD	NM_004006.3(DMD):c.5025+16A>G	noncoding	Benign
X	32365032	T	C	T32365032C	DMD	NM_004006.3(DMD):c.5013A>G:p.Leu1671=	coding	Benign
X	32365036	C	T	C32365036T	DMD	NM_004006.3(DMD):c.5009G>A:p.Trp1670Ter	coding	Pathogenic
X	32365043	C	A	C32365043A	DMD	NM_004006.3(DMD):c.5002G>T:p.Glu1668Ter	coding	Pathogenic
X	32365091	T	A	T32365091A	DMD	NM_004006.3(DMD):c.4954A>T:p.Lys1652Ter	coding	Pathogenic
X	32365112	T	A	T32365112A	DMD	NM_004006.3(DMD):c.4933A>T:p.Lys1645Ter	coding	Pathogenic
X	32365116	G	C	G32365116C	DMD	NM_004006.3(DMD):c.4929C>G:p.Gly1643=	coding	Benign/Likely_benign
X	32365120	A	T	A32365120T	DMD	NM_004006.3(DMD):c.4925T>A:p.Leu1642Ter	coding	Pathogenic
X	32365168	A	T	A32365168T	DMD	NM_004006.3(DMD):c.4877T>A:p.Val1626Glu	coding	Benign/Likely_benign
X	32365181	C	A	C32365181A	DMD	NM_004006.3(DMD):c.4864G>T:p.Glu1622Ter	coding	Pathogenic
X	32365193	G	A	G32365193A	DMD	NM_004006.3(DMD):c.4852C>T:p.Gln1618Ter	coding	Pathogenic
X	32380343	G	A	G32380343A	DMD	NM_004006.3(DMD):c.4845+167C>T	noncoding	Benign
X	32380493	A	G	A32380493G	DMD	NM_004006.3(DMD):c.4845+17T>C	noncoding	Benign/Likely_benign
X	32380497	A	G	A32380497G	DMD	NM_004006.3(DMD):c.4845+13T>C	noncoding	Benign
X	32380562	G	T	G32380562T	DMD	NM_004006.3(DMD):c.4793C>A:p.Ser1598Ter	coding	Pathogenic
X	32380569	T	A	T32380569A	DMD	NM_004006.3(DMD):c.4786A>T:p.Lys1596Ter	coding	Pathogenic
X	32380578	C	A	C32380578A	DMD	NM_004006.3(DMD):c.4777G>T:p.Glu1593Ter	coding	Pathogenic
X	32380598	C	T	C32380598T	DMD	NM_004006.3(DMD):c.4757G>A:p.Trp1586Ter	coding	Pathogenic
X	32380623	T	A	T32380623A	DMD	NM_004006.3(DMD):c.4732A>T:p.Lys1578Ter	coding	Pathogenic
X	32380632	T	A	T32380632A	DMD	NM_004006.3(DMD):c.4723A>T:p.Lys1575Ter	coding	Pathogenic
X	32380644	T	A	T32380644A	DMD	NM_004006.3(DMD):c.4711A>T:p.Lys1571Ter	coding	Pathogenic
X	32380658	A	T	A32380658T	DMD	NM_004006.3(DMD):c.4697T>A:p.Leu1566Ter	coding	Pathogenic
X	32380665	G	A	G32380665A	DMD	NM_004006.3(DMD):c.4690C>T:p.Gln1564Ter	coding	Pathogenic
X	32380668	T	A	T32380668A	DMD	NM_004006.3(DMD):c.4687A>T:p.Lys1563Ter	coding	Pathogenic
X	32380671	T	C	T32380671C	DMD	NM_004006.3(DMD):c.4684A>G:p.Arg1562Gly	coding	Benign/Likely_benign
X	32386132	A	G	A32386132G	DMD	NM_004006.3(DMD):c.4674+178T>C	noncoding	Benign
X	32386270	A	G	A32386270G	DMD	NM_004006.3(DMD):c.4674+40T>C	noncoding	Benign
X	32386318	C	A	C32386318A	DMD	NM_004006.3(DMD):c.4666G>T:p.Gly1556Ter	coding	Pathogenic
X	32386321	G	A	G32386321A	DMD	NM_004006.3(DMD):c.4663C>T:p.Leu1555=	coding	Benign
X	32386357	C	A	C32386357A	DMD	NM_004006.3(DMD):c.4627G>T:p.Glu1543Ter	coding	Pathogenic
X	32386402	G	A	G32386402A	DMD	NM_004006.3(DMD):c.4582C>T:p.Gln1528Ter	coding	Pathogenic
X	32386414	T	A	T32386414A	DMD	NM_004006.3(DMD):c.4570A>T:p.Lys1524Ter	coding	Pathogenic
X	32386426	C	A	C32386426A	DMD	NM_004006.3(DMD):c.4558G>T:p.Glu1520Ter	coding	Pathogenic
X	32386457	A	C	A32386457C	DMD	NM_004006.3(DMD):c.4527T>G:p.Tyr1509Ter	coding	Pathogenic
X	32386466	C	G	C32386466G	DMD	NM_004006.3(DMD):c.4519-1G>C	coding	Pathogenic
X	32386601	G	A	G32386601A	DMD	NM_004006.3(DMD):c.4519-136C>T	noncoding	Benign
X	32389464	A	T	A32389464T	DMD	NM_004006.3(DMD):c.4518+37T>A	noncoding	Benign
X	32389499	A	C	A32389499C	DMD	NM_004006.3(DMD):c.4518+2T>G	noncoding	Pathogenic
X	32389499	A	G	A32389499G	DMD	NM_004006.3(DMD):c.4518+2T>C	noncoding	Pathogenic
X	32389500	C	A	C32389500A	DMD	NM_004006.3(DMD):c.4518+1G>T	noncoding	Pathogenic
X	32389500	C	G	C32389500G	DMD	NM_004006.3(DMD):c.4518+1G>C	noncoding	Pathogenic
X	32389500	C	T	C32389500T	DMD	NM_004006.3(DMD):c.4518+1G>A	noncoding	Pathogenic
X	32389504	A	T	A32389504T	DMD	NM_004006.3(DMD):c.4515T>A:p.Cys1505Ter	coding	Pathogenic
X	32389520	G	T	G32389520T	DMD	NM_004006.3(DMD):c.4499C>A:p.Ser1500Ter	coding	Pathogenic
X	32389635	G	A	G32389635A	DMD	NM_004006.3(DMD):c.4384C>T:p.Gln1462Ter	coding	Pathogenic
X	32389665	G	A	G32389665A	DMD	NM_004006.3(DMD):c.4354C>T:p.Gln1452Ter	coding	Pathogenic
X	32389674	T	A	T32389674A	DMD	NM_004006.3(DMD):c.4345A>T:p.Lys1449Ter	coding	Pathogenic/Likely_pathogenic
X	32390032	A	T	A32390032T	DMD	NM_004006.3(DMD):c.4344+39T>A	noncoding	Benign
X	32390043	G	A	G32390043A	DMD	NM_004006.3(DMD):c.4344+28C>T	noncoding	Benign
X	32390112	C	A	C32390112A	DMD	NM_004006.3(DMD):c.4303G>T:p.Glu1435Ter	coding	Pathogenic
X	32390130	T	A	T32390130A	DMD	NM_004006.3(DMD):c.4285A>T:p.Lys1429Ter	coding	Pathogenic
X	32390142	C	A	C32390142A	DMD	NM_004006.3(DMD):c.4273G>T:p.Glu1425Ter	coding	Pathogenic
X	32390144	A	T	A32390144T	DMD	NM_004006.3(DMD):c.4271T>A:p.Leu1424Ter	coding	Pathogenic
X	32390165	A	T	A32390165T	DMD	NM_004006.3(DMD):c.4250T>A:p.Leu1417Ter	coding	Pathogenic
X	32390193	A	G	A32390193G	DMD	NM_004006.3(DMD):c.4234-12T>C	noncoding	Benign/Likely_benign
X	32411807	A	T	A32411807T	DMD	NM_004006.3(DMD):c.4178T>A:p.Leu1393Ter	coding	Pathogenic
X	32411814	T	A	T32411814A	DMD	NM_004006.3(DMD):c.4171A>T:p.Lys1391Ter	coding	Pathogenic
X	32411835	C	A	C32411835A	DMD	NM_004006.3(DMD):c.4150G>T:p.Glu1384Ter	coding	Pathogenic
X	32411838	G	A	G32411838A	DMD	NM_004006.3(DMD):c.4147C>T:p.Gln1383Ter	coding	Pathogenic
X	32411843	A	C	A32411843C	DMD	NM_004006.3(DMD):c.4142T>G:p.Leu1381Ter	coding	Pathogenic
X	32411859	C	A	C32411859A	DMD	NM_004006.3(DMD):c.4126G>T:p.Glu1376Ter	coding	Pathogenic
X	32411877	G	A	G32411877A	DMD	NM_004006.3(DMD):c.4108C>T:p.Gln1370Ter	coding	Pathogenic
X	32411886	G	A	G32411886A	DMD	NM_004006.3(DMD):c.4099C>T:p.Gln1367Ter	coding	Pathogenic
X	32411898	T	A	T32411898A	DMD	NM_004006.3(DMD):c.4087A>T:p.Lys1363Ter	coding	Pathogenic
X	32411901	G	A	G32411901A	DMD	NM_004006.3(DMD):c.4084C>T:p.Gln1362Ter	coding	Pathogenic
X	32411925	G	A	G32411925A	DMD	NM_004006.3(DMD):c.4072-12C>T	noncoding	Benign/Likely_benign
X	32411938	T	G	T32411938G	DMD	NM_004006.3(DMD):c.4072-25A>C	noncoding	Benign
X	32412386	A	T	A32412386T	DMD	NM_004006.3(DMD):c.4072-473T>A	noncoding	Benign
X	32438212	T	C	T32438212C	DMD	NM_004006.3(DMD):c.4071+29A>G	noncoding	Benign
X	32438239	A	G	A32438239G	DMD	NM_004006.3(DMD):c.4071+2T>C	noncoding	Pathogenic
X	32438239	A	T	A32438239T	DMD	NM_004006.3(DMD):c.4071+2T>A	noncoding	Pathogenic
X	32438243	C	A	C32438243A	DMD	NM_004006.3(DMD):c.4069G>T:p.Glu1357Ter	coding	Pathogenic
X	32438246	C	A	C32438246A	DMD	NM_004006.3(DMD):c.4066G>T:p.Glu1356Ter	coding	Pathogenic
X	32438300	C	A	C32438300A	DMD	NM_004006.3(DMD):c.4012G>T:p.Glu1338Ter	coding	Pathogenic
X	32438348	G	A	G32438348A	DMD	NM_004006.3(DMD):c.3964C>T:p.Gln1322Ter	coding	Pathogenic
X	32438365	G	T	G32438365T	DMD	NM_004006.3(DMD):c.3947C>A:p.Ser1316Ter	coding	Pathogenic
X	32438431	T	C	T32438431C	DMD	NM_004006.3(DMD):c.3922-41A>G	noncoding	Benign
X	32438594	G	C	G32438594C	DMD	NM_004006.3(DMD):c.3922-204C>G	noncoding	Benign
X	32441034	G	C	G32441034C	DMD	NM_004006.3(DMD):c.3921+146C>G	noncoding	Benign
X	32441233	T	A	T32441233A	DMD	NM_004006.3(DMD):c.3868A>T:p.Lys1290Ter	coding	Pathogenic
X	32441239	T	A	T32441239A	DMD	NM_004006.3(DMD):c.3862A>T:p.Lys1288Ter	coding	Pathogenic
X	32441251	C	A	C32441251A	DMD	NM_004006.3(DMD):c.3850G>T:p.Glu1284Ter	coding	Pathogenic
X	32441279	G	C	G32441279C	DMD	NM_004006.3(DMD):c.3822C>G:p.Tyr1274Ter	coding	Pathogenic
X	32441279	G	T	G32441279T	DMD	NM_004006.3(DMD):c.3822C>A:p.Tyr1274Ter	coding	Pathogenic
X	32441283	G	T	G32441283T	DMD	NM_004006.3(DMD):c.3818C>A:p.Ser1273Ter	coding	Pathogenic
X	32441298	C	T	C32441298T	DMD	NM_004006.3(DMD):c.3803G>A:p.Trp1268Ter	coding	Pathogenic
X	32441315	C	A	C32441315A	DMD	NM_004006.3(DMD):c.3787-1G>T	coding	Pathogenic
X	32441950	T	C	T32441950C	DMD	NM_004006.3(DMD):c.3787-636A>G	noncoding	Benign
X	32448455	C	T	C32448455T	DMD	NM_004006.3(DMD):c.3786+1G>A	noncoding	Pathogenic
X	32448458	C	A	C32448458A	DMD	NM_004006.3(DMD):c.3784G>T:p.Glu1262Ter	coding	Pathogenic
X	32448468	G	T	G32448468T	DMD	NM_004006.3(DMD):c.3774C>A:p.Cys1258Ter	coding	Pathogenic
X	32448473	T	A	T32448473A	DMD	NM_004006.3(DMD):c.3769A>T:p.Lys1257Ter	coding	Pathogenic
X	32448527	C	A	C32448527A	DMD	NM_004006.3(DMD):c.3715G>T:p.Glu1239Ter	coding	Pathogenic
X	32448533	T	A	T32448533A	DMD	NM_004006.3(DMD):c.3709A>T:p.Lys1237Ter	coding	Pathogenic
X	32448542	C	A	C32448542A	DMD	NM_004006.3(DMD):c.3700G>T:p.Glu1234Ter	coding	Pathogenic
X	32448587	C	A	C32448587A	DMD	NM_004006.3(DMD):c.3655G>T:p.Glu1219Ter	coding	Pathogenic
X	32448617	G	A	G32448617A	DMD	NM_004006.3(DMD):c.3625C>T:p.Gln1209Ter	coding	Pathogenic
X	32448620	G	A	G32448620A	DMD	NM_004006.3(DMD):c.3622C>T:p.Gln1208Ter	coding	Pathogenic
X	32448629	C	A	C32448629A	DMD	NM_004006.3(DMD):c.3613G>T:p.Glu1205Ter	coding	Pathogenic
X	32452328	T	G	T32452328G	DMD	NM_004006.3(DMD):c.3603+2334A>C	noncoding	Benign
X	32452334	T	G	T32452334G	DMD	NM_004006.3(DMD):c.3603+2328A>C	noncoding	Benign
X	32454631	T	C	T32454631C	DMD	NM_004006.3(DMD):c.3603+31A>G	noncoding	Benign
X	32454673	C	A	C32454673A	DMD	NM_004006.3(DMD):c.3592G>T:p.Glu1198Ter	coding	Pathogenic
X	32454687	A	C	A32454687C	DMD	NM_004006.3(DMD):c.3578T>G:p.Leu1193Ter	coding	Pathogenic
X	32454687	A	T	A32454687T	DMD	NM_004006.3(DMD):c.3578T>A:p.Leu1193Ter	coding	Pathogenic
X	32454703	T	A	T32454703A	DMD	NM_004006.3(DMD):c.3562A>T:p.Lys1188Ter	coding	Pathogenic
X	32454709	C	A	C32454709A	DMD	NM_004006.3(DMD):c.3556G>T:p.Glu1186Ter	coding	Pathogenic
X	32454721	C	A	C32454721A	DMD	NM_004006.3(DMD):c.3544G>T:p.Glu1182Ter	coding	Pathogenic
X	32454749	C	T	C32454749T	DMD	NM_004006.3(DMD):c.3516G>A:p.Trp1172Ter	coding	Pathogenic
X	32454750	C	T	C32454750T	DMD	NM_004006.3(DMD):c.3515G>A:p.Trp1172Ter	coding	Pathogenic
X	32454754	C	A	C32454754A	DMD	NM_004006.3(DMD):c.3511G>T:p.Glu1171Ter	coding	Pathogenic
X	32454769	G	C	G32454769C	DMD	NM_004006.3(DMD):c.3496C>G:p.Leu1166Val	coding	Benign/Likely_benign
X	32454793	T	A	T32454793A	DMD	NM_004006.3(DMD):c.3472A>T:p.Lys1158Ter	coding	Pathogenic
X	32454810	A	T	A32454810T	DMD	NM_004006.3(DMD):c.3455T>A:p.Leu1152Ter	coding	Pathogenic
X	32454817	C	A	C32454817A	DMD	NM_004006.3(DMD):c.3448G>T:p.Glu1150Ter	coding	Pathogenic
X	32454820	T	A	T32454820A	DMD	NM_004006.3(DMD):c.3445A>T:p.Lys1149Ter	coding	Pathogenic
X	32454833	C	T	C32454833T	DMD	NM_004006.3(DMD):c.3433-1G>A	coding	Pathogenic
X	32454834	T	C	T32454834C	DMD	NM_004006.3(DMD):c.3433-2A>G	noncoding	Pathogenic
X	32454869	C	A	C32454869A	DMD	NM_004006.3(DMD):c.3433-37G>T	noncoding	Benign
X	32461350	T	A	T32461350A	DMD	NM_004006.3(DMD):c.3432+2089A>T	noncoding	Benign
X	32461403	T	C	T32461403C	DMD	NM_004006.3(DMD):c.3432+2036A>G	noncoding	Pathogenic/Likely_pathogenic
X	32461403	T	G	T32461403G	DMD	NM_004006.3(DMD):c.3432+2036A>C	noncoding	Benign/Likely_benign
X	32463402	C	T	C32463402T	DMD	NM_004006.3(DMD):c.3432+37G>A	noncoding	Benign
X	32463437	A	G	A32463437G	DMD	NM_004006.3(DMD):c.3432+2T>C	noncoding	Pathogenic
X	32463445	G	T	G32463445T	DMD	NM_004006.3(DMD):c.3426C>A:p.Cys1142Ter	coding	Pathogenic
X	32463457	C	T	C32463457T	DMD	NM_004006.3(DMD):c.3414G>A:p.Trp1138Ter	coding	Pathogenic
X	32463462	G	A	G32463462A	DMD	NM_004006.3(DMD):c.3409C>T:p.Gln1137Ter	coding	Pathogenic
X	32463474	C	A	C32463474A	DMD	NM_004006.3(DMD):c.3397G>T:p.Glu1133Ter	coding	Pathogenic
X	32463483	C	A	C32463483A	DMD	NM_004006.3(DMD):c.3388G>T:p.Glu1130Ter	coding	Pathogenic
X	32463495	T	A	T32463495A	DMD	NM_004006.3(DMD):c.3376A>T:p.Arg1126Ter	coding	Pathogenic
X	32463519	C	A	C32463519A	DMD	NM_004006.3(DMD):c.3352G>T:p.Glu1118Ter	coding	Pathogenic
X	32463525	T	A	T32463525A	DMD	NM_004006.3(DMD):c.3346A>T:p.Lys1116Ter	coding	Pathogenic
X	32463531	T	A	T32463531A	DMD	NM_004006.3(DMD):c.3340A>T:p.Lys1114Ter	coding	Pathogenic
X	32463534	G	A	G32463534A	DMD	NM_004006.3(DMD):c.3337C>T:p.Gln1113Ter	coding	Pathogenic
X	32463543	C	A	C32463543A	DMD	NM_004006.3(DMD):c.3328G>T:p.Glu1110Ter	coding	Pathogenic
X	32463567	G	A	G32463567A	DMD	NM_004006.3(DMD):c.3304C>T:p.Gln1102Ter	coding	Pathogenic
X	32463590	A	C	A32463590C	DMD	NM_004006.3(DMD):c.3281T>G:p.Leu1094Ter	coding	Pathogenic
X	32463590	A	T	A32463590T	DMD	NM_004006.3(DMD):c.3281T>A:p.Leu1094Ter	coding	Pathogenic
X	32463595	C	G	C32463595G	DMD	NM_004006.3(DMD):c.3277-1G>C	coding	Pathogenic
X	32463624	G	A	G32463624A	DMD	NM_004006.3(DMD):c.3277-30C>T	noncoding	Benign
X	32464584	A	C	A32464584C	DMD	NM_004006.3(DMD):c.3276+2T>G	noncoding	Pathogenic
X	32464588	T	A	T32464588A	DMD	NM_004006.3(DMD):c.3274A>T:p.Arg1092Ter	coding	Pathogenic
X	32464589	G	A	G32464589A	DMD	NM_004006.3(DMD):c.3273C>T:p.Cys1091=	coding	Benign
X	32464606	T	A	T32464606A	DMD	NM_004006.3(DMD):c.3256A>T:p.Lys1086Ter	coding	Pathogenic
X	32464609	T	A	T32464609A	DMD	NM_004006.3(DMD):c.3253A>T:p.Lys1085Ter	coding	Pathogenic
X	32464618	C	A	C32464618A	DMD	NM_004006.3(DMD):c.3244G>T:p.Glu1082Ter	coding	Pathogenic
X	32464631	G	T	G32464631T	DMD	NM_004006.3(DMD):c.3231C>A:p.Ala1077=	coding	Benign
X	32464638	C	T	C32464638T	DMD	NM_004006.3(DMD):c.3224G>A:p.Trp1075Ter	coding	Pathogenic
X	32464666	C	A	C32464666A	DMD	NM_004006.3(DMD):c.3196G>T:p.Glu1066Ter	coding	Pathogenic
X	32464673	C	T	C32464673T	DMD	NM_004006.3(DMD):c.3189G>A:p.Trp1063Ter	coding	Pathogenic
X	32464680	T	C	T32464680C	DMD	NM_004006.3(DMD):c.3182A>G:p.Lys1061Arg	coding	Benign
X	32464690	G	A	G32464690A	DMD	NM_004006.3(DMD):c.3172C>T:p.Gln1058Ter	coding	Pathogenic
X	32464736	C	G	C32464736G	DMD	NM_004006.3(DMD):c.3163-37G>C	noncoding	Benign
X	32468497	C	T	C32468497T	DMD	NM_004006.3(DMD):c.3162+1G>A	noncoding	Pathogenic/Likely_pathogenic
X	32468524	G	A	G32468524A	DMD	NM_004006.3(DMD):c.3136C>T:p.Gln1046Ter	coding	Pathogenic
X	32468557	G	A	G32468557A	DMD	NM_004006.3(DMD):c.3103C>T:p.Gln1035Ter	coding	Pathogenic
X	32468572	T	A	T32468572A	DMD	NM_004006.3(DMD):c.3088A>T:p.Lys1030Ter	coding	Pathogenic
X	32468573	C	T	C32468573T	DMD	NM_004006.3(DMD):c.3087G>A:p.Trp1029Ter	coding	Pathogenic
X	32468574	C	T	C32468574T	DMD	NM_004006.3(DMD):c.3086G>A:p.Trp1029Ter	coding	Pathogenic
X	32468581	C	A	C32468581A	DMD	NM_004006.3(DMD):c.3079G>T:p.Gly1027Ter	coding	Pathogenic
X	32468583	T	C	T32468583C	DMD	NM_004006.3(DMD):c.3077A>G:p.Glu1026Gly	coding	Benign
X	32468599	C	A	C32468599A	DMD	NM_004006.3(DMD):c.3061G>T:p.Glu1021Ter	coding	Pathogenic
X	32468606	A	C	A32468606C	DMD	NM_004006.3(DMD):c.3054T>G:p.Tyr1018Ter	coding	Pathogenic
X	32468650	T	A	T32468650A	DMD	NM_004006.3(DMD):c.3010A>T:p.Lys1004Ter	coding	Pathogenic
X	32468666	A	T	A32468666T	DMD	NM_004006.3(DMD):c.2994T>A:p.Tyr998Ter	coding	Pathogenic
X	32468683	G	A	G32468683A	DMD	NM_004006.3(DMD):c.2977C>T:p.Gln993Ter	coding	Pathogenic
X	32468686	G	A	G32468686A	DMD	NM_004006.3(DMD):c.2974C>T:p.Gln992Ter	coding	Pathogenic
X	32468689	C	A	C32468689A	DMD	NM_004006.3(DMD):c.2971G>T:p.Glu991Ter	coding	Pathogenic
X	32468706	A	T	A32468706T	DMD	NM_004006.3(DMD):c.2954T>A:p.Leu985Ter	coding	Pathogenic
X	32468711	C	A	C32468711A	DMD	NM_004006.3(DMD):c.2950-1G>T	coding	Pathogenic
X	32468711	C	T	C32468711T	DMD	NM_004006.3(DMD):c.2950-1G>A	coding	Pathogenic
X	32472037	A	C	A32472037C	DMD	NM_004006.3(DMD):c.2949+127T>G	noncoding	Benign
X	32472127	C	T	C32472127T	DMD	NM_004006.3(DMD):c.2949+37G>A	noncoding	Benign
X	32472162	A	G	A32472162G	DMD	NM_004006.3(DMD):c.2949+2T>C	noncoding	Pathogenic/Likely_pathogenic
X	32472162	A	T	A32472162T	DMD	NM_004006.3(DMD):c.2949+2T>A	noncoding	Pathogenic
X	32472166	G	A	G32472166A	DMD	NM_004006.3(DMD):c.2947C>T:p.Gln983Ter	coding	Pathogenic
X	32472167	C	T	C32472167T	DMD	NM_004006.3(DMD):c.2946G>A:p.Leu982=	coding	Benign
X	32472184	G	A	G32472184A	DMD	NM_004006.3(DMD):c.2929C>T:p.Gln977Ter	coding	Pathogenic
X	32472196	C	A	C32472196A	DMD	NM_004006.3(DMD):c.2917G>T:p.Glu973Ter	coding	Pathogenic
X	32472240	G	C	G32472240C	DMD	NM_004006.3(DMD):c.2873C>G:p.Ser958Ter	coding	Pathogenic
X	32472247	G	A	G32472247A	DMD	NM_004006.3(DMD):c.2866C>T:p.Gln956Ter	coding	Pathogenic
X	32472251	C	T	C32472251T	DMD	NM_004006.3(DMD):c.2862G>A:p.Trp954Ter	coding	Pathogenic
X	32472277	C	A	C32472277A	DMD	NM_004006.3(DMD):c.2836G>T:p.Glu946Ter	coding	Pathogenic
X	32472280	G	A	G32472280A	DMD	NM_004006.3(DMD):c.2833C>T:p.Gln945Ter	coding	Pathogenic
X	32472281	A	C	A32472281C	DMD	NM_004006.3(DMD):c.2832T>G:p.Tyr944Ter	coding	Pathogenic
X	32472281	A	T	A32472281T	DMD	NM_004006.3(DMD):c.2832T>A:p.Tyr944Ter	coding	Pathogenic
X	32484752	C	A	C32484752A	DMD	NM_004006.3(DMD):c.2803+167G>T	noncoding	Benign
X	32484934	T	A	T32484934A	DMD	NM_004006.3(DMD):c.2788A>T:p.Lys930Ter	coding	Pathogenic
X	32485015	C	A	C32485015A	DMD	NM_004006.3(DMD):c.2707G>T:p.Gly903Ter	coding	Pathogenic
X	32485021	C	A	C32485021A	DMD	NM_004006.3(DMD):c.2701G>T:p.Gly901Ter	coding	Pathogenic
X	32485024	T	A	T32485024A	DMD	NM_004006.3(DMD):c.2698A>T:p.Lys900Ter	coding	Pathogenic
X	32485027	C	A	C32485027A	DMD	NM_004006.3(DMD):c.2695G>T:p.Glu899Ter	coding	Pathogenic
X	32485045	G	A	G32485045A	DMD	NM_004006.3(DMD):c.2677C>T:p.Gln893Ter	coding	Pathogenic
X	32485051	T	A	T32485051A	DMD	NM_004006.3(DMD):c.2671A>T:p.Lys891Ter	coding	Pathogenic
X	32485101	T	C	T32485101C	DMD	NM_004006.3(DMD):c.2623-2A>G	noncoding	Pathogenic
X	32485101	T	G	T32485101G	DMD	NM_004006.3(DMD):c.2623-2A>C	noncoding	Pathogenic
X	32485113	T	C	T32485113C	DMD	NM_004006.3(DMD):c.2623-14A>G	noncoding	Benign
X	32485114	A	G	A32485114G	DMD	NM_004006.3(DMD):c.2623-15T>C	noncoding	Benign
X	32485132	G	A	G32485132A	DMD	NM_004006.3(DMD):c.2623-33C>T	noncoding	Benign
X	32491268	G	C	G32491268C	DMD	NM_004006.3(DMD):c.2622+9C>G	noncoding	Benign
X	32491290	A	C	A32491290C	DMD	NM_004006.3(DMD):c.2609T>G:p.Leu870Ter	coding	Pathogenic
X	32491294	G	A	G32491294A	DMD	NM_004006.3(DMD):c.2605C>T:p.Gln869Ter	coding	Pathogenic
X	32491315	C	A	C32491315A	DMD	NM_004006.3(DMD):c.2584G>T:p.Glu862Ter	coding	Pathogenic
X	32491317	G	C	G32491317C	DMD	NM_004006.3(DMD):c.2582C>G:p.Ser861Ter	coding	Pathogenic
X	32491339	T	A	T32491339A	DMD	NM_004006.3(DMD):c.2560A>T:p.Lys854Ter	coding	Pathogenic
X	32491341	A	T	A32491341T	DMD	NM_004006.3(DMD):c.2558T>A:p.Leu853Ter	coding	Pathogenic
X	32491342	A	G	A32491342G	DMD	NM_004006.3(DMD):c.2557T>C:p.Leu853=	coding	Benign/Likely_benign
X	32491372	C	A	C32491372A	DMD	NM_004006.3(DMD):c.2527G>T:p.Glu843Ter	coding	Pathogenic
X	32491378	G	A	G32491378A	DMD	NM_004006.3(DMD):c.2521C>T:p.Gln841Ter	coding	Pathogenic
X	32491379	T	C	T32491379C	DMD	NM_004006.3(DMD):c.2520A>G:p.Gln840=	coding	Benign
X	32491381	G	A	G32491381A	DMD	NM_004006.3(DMD):c.2518C>T:p.Gln840Ter	coding	Pathogenic
X	32491424	C	T	C32491424T	DMD	NM_004006.3(DMD):c.2475G>A:p.Trp825Ter	coding	Pathogenic
X	32491425	C	T	C32491425T	DMD	NM_004006.3(DMD):c.2474G>A:p.Trp825Ter	coding	Pathogenic
X	32491450	G	A	G32491450A	DMD	NM_004006.3(DMD):c.2449C>T:p.Gln817Ter	coding	Pathogenic
X	32491464	C	T	C32491464T	DMD	NM_004006.3(DMD):c.2435G>A:p.Trp812Ter	coding	Pathogenic
X	32491485	G	C	G32491485C	DMD	NM_004006.3(DMD):c.2414C>G:p.Ser805Ter	coding	Pathogenic
X	32491495	T	A	T32491495A	DMD	NM_004006.3(DMD):c.2404A>T:p.Lys802Ter	coding	Pathogenic
X	32501755	C	A	C32501755A	DMD	NM_004006.3(DMD):c.2380G>T:p.Glu794Ter	coding	Pathogenic
X	32501770	C	A	C32501770A	DMD	NM_004006.3(DMD):c.2365G>T:p.Glu789Ter	coding	Pathogenic
X	32501782	G	A	G32501782A	DMD	NM_004006.3(DMD):c.2353C>T:p.Gln785Ter	coding	Pathogenic
X	32501830	C	A	C32501830A	DMD	NM_004006.3(DMD):c.2305G>T:p.Glu769Ter	coding	Pathogenic
X	32501836	C	A	C32501836A	DMD	NM_004006.3(DMD):c.2299G>T:p.Glu767Ter	coding	Pathogenic
X	32501843	C	A	C32501843A	DMD	NM_004006.3(DMD):c.2293-1G>T	coding	Pathogenic
X	32501843	C	T	C32501843T	DMD	NM_004006.3(DMD):c.2293-1G>A	coding	Pathogenic
X	32501844	T	C	T32501844C	DMD	NM_004006.3(DMD):c.2293-2A>G	noncoding	Pathogenic
X	32518006	A	G	A32518006G	DMD	NM_004006.3(DMD):c.2292+2T>C	noncoding	Pathogenic
X	32518006	A	T	A32518006T	DMD	NM_004006.3(DMD):c.2292+2T>A	noncoding	Pathogenic
X	32518019	C	A	C32518019A	DMD	NM_004006.3(DMD):c.2281G>T:p.Glu761Ter	coding	Pathogenic
X	32518030	G	C	G32518030C	DMD	NM_004006.3(DMD):c.2270C>G:p.Ser757Ter	coding	Pathogenic
X	32518030	G	T	G32518030T	DMD	NM_004006.3(DMD):c.2270C>A:p.Ser757Ter	coding	Pathogenic
X	32518064	C	A	C32518064A	DMD	NM_004006.3(DMD):c.2236G>T:p.Glu746Ter	coding	Pathogenic
X	32518087	G	C	G32518087C	DMD	NM_004006.3(DMD):c.2213C>G:p.Ser738Ter	coding	Pathogenic
X	32518133	T	A	T32518133A	DMD	NM_004006.3(DMD):c.2169-2A>T	noncoding	Pathogenic
X	32518133	T	C	T32518133C	DMD	NM_004006.3(DMD):c.2169-2A>G	noncoding	Pathogenic
X	32518148	T	G	T32518148G	DMD	NM_004006.3(DMD):c.2169-17A>C	noncoding	Benign/Likely_benign
X	32545190	G	A	G32545190A	DMD	NM_004006.3(DMD):c.2137C>T:p.Gln713Ter	coding	Pathogenic
X	32545199	T	A	T32545199A	DMD	NM_004006.3(DMD):c.2128A>T:p.Lys710Ter	coding	Pathogenic
X	32545202	G	A	G32545202A	DMD	NM_004006.3(DMD):c.2125C>T:p.Gln709Ter	coding	Pathogenic
X	32545223	C	A	C32545223A	DMD	NM_004006.3(DMD):c.2104G>T:p.Glu702Ter	coding	Pathogenic
X	32545229	G	A	G32545229A	DMD	NM_004006.3(DMD):c.2098C>T:p.Gln700Ter	coding	Pathogenic
X	32545238	T	A	T32545238A	DMD	NM_004006.3(DMD):c.2089A>T:p.Lys697Ter	coding	Pathogenic
X	32545247	T	A	T32545247A	DMD	NM_004006.3(DMD):c.2080A>T:p.Ile694Phe	coding	Benign/Likely_benign
X	32545253	C	A	C32545253A	DMD	NM_004006.3(DMD):c.2074G>T:p.Glu692Ter	coding	Pathogenic
X	32545280	C	A	C32545280A	DMD	NM_004006.3(DMD):c.2047G>T:p.Glu683Ter	coding	Pathogenic
X	32545330	G	T	G32545330T	DMD	NM_004006.3(DMD):c.1997C>A:p.Ser666Ter	coding	Pathogenic
X	32565700	A	C	A32565700C	DMD	NM_004006.3(DMD):c.1992+2T>G	noncoding	Pathogenic
X	32565719	C	T	C32565719T	DMD	NM_004006.3(DMD):c.1975G>A:p.Glu659Lys	coding	Benign/Likely_benign
X	32565733	A	T	A32565733T	DMD	NM_004006.3(DMD):c.1961T>A:p.Leu654Ter	coding	Pathogenic
X	32565765	C	T	C32565765T	DMD	NM_004006.3(DMD):c.1929G>A:p.Trp643Ter	coding	Pathogenic
X	32565766	C	T	C32565766T	DMD	NM_004006.3(DMD):c.1928G>A:p.Trp643Ter	coding	Pathogenic
X	32565790	G	C	G32565790C	DMD	NM_004006.3(DMD):c.1904C>G:p.Ser635Ter	coding	Pathogenic
X	32565800	T	A	T32565800A	DMD	NM_004006.3(DMD):c.1894A>T:p.Lys632Ter	coding	Pathogenic/Likely_pathogenic
X	32565821	G	A	G32565821A	DMD	NM_004006.3(DMD):c.1873C>T:p.Gln625Ter	coding	Pathogenic
X	32565831	A	C	A32565831C	DMD	NM_004006.3(DMD):c.1863T>G:p.Tyr621Ter	coding	Pathogenic
X	32565851	G	A	G32565851A	DMD	NM_004006.3(DMD):c.1843C>T:p.Gln615Ter	coding	Pathogenic
X	32565863	C	A	C32565863A	DMD	NM_004006.3(DMD):c.1831G>T:p.Glu611Ter	coding	Pathogenic
X	32565884	G	T	G32565884T	DMD	NM_004006.3(DMD):c.1813-3C>A	noncoding	Benign/Likely_benign
X	32573549	G	C	G32573549C	DMD	NM_004006.3(DMD):c.1793C>G:p.Ser598Ter	coding	Pathogenic
X	32573559	C	A	C32573559A	DMD	NM_004006.3(DMD):c.1783G>T:p.Glu595Ter	coding	Pathogenic
X	32573600	G	A	G32573600A	DMD	NM_004006.3(DMD):c.1742C>T:p.Ala581Val	coding	Benign
X	32573610	T	A	T32573610A	DMD	NM_004006.3(DMD):c.1732A>T:p.Lys578Ter	coding	Pathogenic
X	32573613	C	A	C32573613A	DMD	NM_004006.3(DMD):c.1729G>T:p.Glu577Ter	coding	Pathogenic
X	32573615	G	T	G32573615T	DMD	NM_004006.3(DMD):c.1727C>A:p.Ser576Ter	coding	Pathogenic
X	32573621	C	T	C32573621T	DMD	NM_004006.3(DMD):c.1721G>A:p.Trp574Ter	coding	Pathogenic
X	32573635	G	T	G32573635T	DMD	NM_004006.3(DMD):c.1707C>A:p.Cys569Ter	coding	Pathogenic
X	32573743	A	T	A32573743T	DMD	NM_004006.3(DMD):c.1704+2T>A	noncoding	Pathogenic
X	32573747	G	A	G32573747A	DMD	NM_004006.3(DMD):c.1702C>T:p.Gln568Ter	coding	Pathogenic
X	32573750	C	A	C32573750A	DMD	NM_004006.3(DMD):c.1699G>T:p.Glu567Ter	coding	Pathogenic
X	32573753	C	A	C32573753A	DMD	NM_004006.3(DMD):c.1696G>T:p.Glu566Ter	coding	Pathogenic
X	32573765	G	A	G32573765A	DMD	NM_004006.3(DMD):c.1684C>T:p.Gln562Ter	coding	Pathogenic
X	32573767	C	T	C32573767T	DMD	NM_004006.3(DMD):c.1682G>A:p.Trp561Ter	coding	Pathogenic
X	32573807	C	A	C32573807A	DMD	NM_004006.3(DMD):c.1642G>T:p.Glu548Ter	coding	Pathogenic
X	32573816	T	A	T32573816A	DMD	NM_004006.3(DMD):c.1633A>T:p.Arg545Ter	coding	Pathogenic
X	32573840	C	A	C32573840A	DMD	NM_004006.3(DMD):c.1609G>T:p.Gly537Ter	coding	Pathogenic
X	32573847	C	T	C32573847T	DMD	NM_004006.3(DMD):c.1603-1G>A	coding	Pathogenic
X	32573895	C	T	C32573895T	DMD	NM_004006.3(DMD):c.1603-49G>A	noncoding	Benign
X	32595755	A	T	A32595755T	DMD	NM_004006.3(DMD):c.1602+2T>A	noncoding	Pathogenic
X	32595757	C	A	C32595757A	DMD	NM_004006.3(DMD):c.1602G>T:p.Lys534Asn	coding	Pathogenic
X	32595768	C	A	C32595768A	DMD	NM_004006.3(DMD):c.1591G>T:p.Glu531Ter	coding	Pathogenic
X	32595795	C	A	C32595795A	DMD	NM_004006.3(DMD):c.1564G>T:p.Gly522Ter	coding	Pathogenic
X	32595804	C	A	C32595804A	DMD	NM_004006.3(DMD):c.1555G>T:p.Glu519Ter	coding	Pathogenic
X	32595849	G	A	G32595849A	DMD	NM_004006.3(DMD):c.1510C>T:p.Gln504Ter	coding	Pathogenic
X	32595878	T	C	T32595878C	DMD	NM_004006.3(DMD):c.1483-2A>G	noncoding	Pathogenic
X	32595878	T	G	T32595878G	DMD	NM_004006.3(DMD):c.1483-2A>C	noncoding	Pathogenic
X	32595948	A	G	A32595948G	DMD	NM_004006.3(DMD):c.1483-72T>C	noncoding	Benign
X	32614301	A	T	A32614301T	DMD	NM_004006.3(DMD):c.1482+2T>A	noncoding	Pathogenic
X	32614305	T	A	T32614305A	DMD	NM_004006.3(DMD):c.1480A>T:p.Lys494Ter	coding	Pathogenic
X	32614311	G	A	G32614311A	DMD	NM_004006.3(DMD):c.1474C>T:p.Gln492Ter	coding	Pathogenic
X	32614314	G	A	G32614314A	DMD	NM_004006.3(DMD):c.1471C>T:p.Gln491Ter	coding	Pathogenic
X	32614356	C	A	C32614356A	DMD	NM_004006.3(DMD):c.1429G>T:p.Glu477Ter	coding	Pathogenic
X	32614359	C	A	C32614359A	DMD	NM_004006.3(DMD):c.1426G>T:p.Glu476Ter	coding	Pathogenic
X	32614396	C	T	C32614396T	DMD	NM_004006.3(DMD):c.1389G>A:p.Trp463Ter	coding	Pathogenic
X	32614410	C	A	C32614410A	DMD	NM_004006.3(DMD):c.1375G>T:p.Glu459Ter	coding	Pathogenic
X	32614413	T	A	T32614413A	DMD	NM_004006.3(DMD):c.1372A>T:p.Lys458Ter	coding	Pathogenic
X	32614422	G	A	G32614422A	DMD	NM_004006.3(DMD):c.1363C>T:p.Gln455Ter	coding	Pathogenic
X	32614434	C	A	C32614434A	DMD	NM_004006.3(DMD):c.1351G>T:p.Asp451Tyr	coding	Pathogenic/Likely_pathogenic
X	32614446	T	A	T32614446A	DMD	NM_004006.3(DMD):c.1339A>T:p.Arg447Ter	coding	Pathogenic
X	32614452	A	G	A32614452G	DMD	NM_004006.3(DMD):c.1333T>C:p.Leu445=	coding	Benign
X	32614464	G	A	G32614464A	DMD	NM_004006.3(DMD):c.1332-11C>T	noncoding	Benign/Likely_benign
X	32643910	T	C	T32643910C	DMD	NM_004006.3(DMD):c.1331+222A>G	noncoding	Benign
X	32644094	T	G	T32644094G	DMD	NM_004006.3(DMD):c.1331+38A>C	noncoding	Benign
X	32644130	A	G	A32644130G	DMD	NM_004006.3(DMD):c.1331+2T>C	noncoding	Pathogenic
X	32644140	T	C	T32644140C	DMD	NM_004006.3(DMD):c.1323A>G:p.Lys441=	coding	Benign
X	32644164	G	T	G32644164T	DMD	NM_004006.3(DMD):c.1299C>A:p.Cys433Ter	coding	Pathogenic
X	32644196	G	A	G32644196A	DMD	NM_004006.3(DMD):c.1267C>T:p.Gln423Ter	coding	Pathogenic
X	32644214	C	A	C32644214A	DMD	NM_004006.3(DMD):c.1249G>T:p.Glu417Ter	coding	Pathogenic
X	32644223	C	A	C32644223A	DMD	NM_004006.3(DMD):c.1240G>T:p.Glu414Ter	coding	Pathogenic
X	32644256	C	A	C32644256A	DMD	NM_004006.3(DMD):c.1207G>T:p.Gly403Ter	coding	Pathogenic
X	32644262	G	A	G32644262A	DMD	NM_004006.3(DMD):c.1201C>T:p.Gln401Ter	coding	Pathogenic
X	32644286	G	A	G32644286A	DMD	NM_004006.3(DMD):c.1177C>T:p.Gln393Ter	coding	Pathogenic
X	32644952	G	A	G32644952A	DMD	NM_004006.3(DMD):c.1149+12C>T	noncoding	Benign
X	32644962	A	C	A32644962C	DMD	NM_004006.3(DMD):c.1149+2T>G	noncoding	Pathogenic
X	32644962	A	G	A32644962G	DMD	NM_004006.3(DMD):c.1149+2T>C	noncoding	Pathogenic
X	32644981	G	A	G32644981A	DMD	NM_004006.3(DMD):c.1132C>T:p.Gln378Ter	coding	Pathogenic
X	32644996	C	A	C32644996A	DMD	NM_004006.3(DMD):c.1117G>T:p.Glu373Ter	coding	Pathogenic
X	32645014	C	A	C32645014A	DMD	NM_004006.3(DMD):c.1099G>T:p.Glu367Ter	coding	Pathogenic
X	32645058	A	C	A32645058C	DMD	NM_004006.3(DMD):c.1055T>G:p.Leu352Ter	coding	Pathogenic
X	32645080	G	A	G32645080A	DMD	NM_004006.3(DMD):c.1033C>T:p.Gln345Ter	coding	Pathogenic
X	32645081	A	T	A32645081T	DMD	NM_004006.3(DMD):c.1032T>A:p.Tyr344Ter	coding	Pathogenic
X	32645148	A	T	A32645148T	DMD	NM_004006.3(DMD):c.965T>A:p.Leu322Ter	coding	Pathogenic
X	32651005	G	A	G32651005A	DMD	NM_004006.3(DMD):c.961-5853C>T	noncoding	Benign
X	32651133	T	A	T32651133A	DMD	NM_004006.3(DMD):c.961-5981A>T	noncoding	Benign
X	32697868	A	C	A32697868C	DMD	NM_004006.3(DMD):c.960+2T>G	noncoding	Pathogenic
X	32697874	G	C	G32697874C	DMD	NM_004006.3(DMD):c.956C>G:p.Ser319Ter	coding	Pathogenic
X	32697923	G	A	G32697923A	DMD	NM_004006.3(DMD):c.907C>T:p.Gln303Ter	coding	Pathogenic
X	32697927	G	C	G32697927C	DMD	NM_004006.3(DMD):c.903C>G:p.Tyr301Ter	coding	Pathogenic
X	32697927	G	T	G32697927T	DMD	NM_004006.3(DMD):c.903C>A:p.Tyr301Ter	coding	Pathogenic
X	32697971	C	A	C32697971A	DMD	NM_004006.3(DMD):c.859G>T:p.Glu287Ter	coding	Pathogenic
X	32697977	C	A	C32697977A	DMD	NM_004006.3(DMD):c.853G>T:p.Gly285Ter	coding	Pathogenic
X	32698009	G	A	G32698009A	DMD	NM_004006.3(DMD):c.832-11C>T	noncoding	Benign
X	32698018	G	A	G32698018A	DMD	NM_004006.3(DMD):c.832-20C>T	noncoding	Benign/Likely_benign
X	32699110	A	G	A32699110G	DMD	NM_004006.3(DMD):c.831+2T>C	noncoding	Pathogenic
X	32699114	G	A	G32699114A	DMD	NM_004006.3(DMD):c.829C>T:p.Gln277Ter	coding	Pathogenic
X	32699117	G	A	G32699117A	DMD	NM_004006.3(DMD):c.826C>T:p.Gln276Ter	coding	Pathogenic
X	32699153	C	A	C32699153A	DMD	NM_004006.3(DMD):c.790G>T:p.Glu264Ter	coding	Pathogenic
X	32699168	T	A	T32699168A	DMD	NM_004006.3(DMD):c.775A>T:p.Lys259Ter	coding	Pathogenic
X	32699189	C	A	C32699189A	DMD	NM_004006.3(DMD):c.754G>T:p.Glu252Ter	coding	Pathogenic
X	32699198	G	A	G32699198A	DMD	NM_004006.3(DMD):c.745C>T:p.Gln249Ter	coding	Pathogenic
X	32699222	G	A	G32699222A	DMD	NM_004006.3(DMD):c.721C>T:p.Gln241Ter	coding	Pathogenic
X	32699234	G	A	G32699234A	DMD	NM_004006.3(DMD):c.709C>T:p.Gln237Ter	coding	Pathogenic
X	32699242	G	C	G32699242C	DMD	NM_004006.3(DMD):c.701C>G:p.Ser234Ter	coding	Pathogenic
X	32699242	G	T	G32699242T	DMD	NM_004006.3(DMD):c.701C>A:p.Ser234Ter	coding	Pathogenic
X	32699265	C	T	C32699265T	DMD	NM_004006.3(DMD):c.678G>A:p.Lys226=	coding	Benign/Likely_benign
X	32699270	T	A	T32699270A	DMD	NM_004006.3(DMD):c.673A>T:p.Lys225Ter	coding	Pathogenic
X	32738673	T	G	T32738673G	DMD	NM_004006.3(DMD):c.650-39380A>C	noncoding	Benign
X	32738679	T	A	T32738679A	DMD	NM_004006.3(DMD):c.650-39386A>T	noncoding	Benign
X	32738682	T	G	T32738682G	DMD	NM_004006.3(DMD):c.650-39389A>C	noncoding	Benign
X	32738683	C	A	C32738683A	DMD	NM_004006.3(DMD):c.650-39390G>T	noncoding	Benign
X	32738686	T	A	T32738686A	DMD	NM_004006.3(DMD):c.650-39393A>T	noncoding	Benign
X	32738700	C	A	C32738700A	DMD	NM_004006.3(DMD):c.650-39407G>T	noncoding	Benign
X	32738868	T	G	T32738868G	DMD	NM_004006.3(DMD):c.650-39575A>C	noncoding	Benign
X	32809445	T	A	T32809445A	DMD	NM_004006.3(DMD):c.649+48A>T	noncoding	Benign
X	32809491	A	G	A32809491G	DMD	NM_004006.3(DMD):c.649+2T>C	noncoding	Pathogenic
X	32809496	C	A	C32809496A	DMD	NM_004006.3(DMD):c.646G>T:p.Glu216Ter	coding	Pathogenic
X	32809511	T	A	T32809511A	DMD	NM_004006.3(DMD):c.631A>T:p.Lys211Ter	coding	Pathogenic
X	32809522	A	C	A32809522C	DMD	NM_004006.3(DMD):c.620T>G:p.Leu207Ter	coding	Pathogenic
X	32809562	G	A	G32809562A	DMD	NM_004006.3(DMD):c.580C>T:p.Gln194Ter	coding	Pathogenic
X	32809563	T	C	T32809563C	DMD	NM_004006.3(DMD):c.579A>G:p.Thr193=	coding	Benign
X	32809574	G	A	G32809574A	DMD	NM_004006.3(DMD):c.568C>T:p.Gln190Ter	coding	Pathogenic
X	32809578	G	T	G32809578T	DMD	NM_004006.3(DMD):c.564C>A:p.Cys188Ter	coding	Pathogenic
X	32809593	C	T	C32809593T	DMD	NM_004006.3(DMD):c.549G>A:p.Trp183Ter	coding	Pathogenic
X	32809624	C	A	C32809624A	DMD	NM_004006.3(DMD):c.531-13G>T	noncoding	Benign
X	32816449	G	A	G32816449A	DMD	NM_004006.3(DMD):c.530+19C>T	noncoding	Benign
X	32816466	A	G	A32816466G	DMD	NM_004006.3(DMD):c.530+2T>C	noncoding	Pathogenic
X	32816467	C	A	C32816467A	DMD	NM_004006.3(DMD):c.530+1G>T	noncoding	Pathogenic
X	32816467	C	T	C32816467T	DMD	NM_004006.3(DMD):c.530+1G>A	noncoding	Pathogenic
X	32816558	G	C	G32816558C	DMD	NM_004006.3(DMD):c.440C>G:p.Ser147Ter	coding	Pathogenic
X	32816558	G	T	G32816558T	DMD	NM_004006.3(DMD):c.440C>A:p.Ser147Ter	coding	Pathogenic
X	32816562	G	A	G32816562A	DMD	NM_004006.3(DMD):c.436C>T:p.Gln146Ter	coding	Pathogenic
X	32816564	C	G	C32816564G	DMD	NM_004006.3(DMD):c.434G>C:p.Arg145Pro	coding	Pathogenic/Likely_pathogenic
X	32816569	C	T	C32816569T	DMD	NM_004006.3(DMD):c.429G>A:p.Trp143Ter	coding	Pathogenic
X	32816570	C	T	C32816570T	DMD	NM_004006.3(DMD):c.428G>A:p.Trp143Ter	coding	Pathogenic
X	32816589	C	A	C32816589A	DMD	NM_004006.3(DMD):c.409G>T:p.Glu137Ter	coding	Pathogenic
X	32816604	G	A	G32816604A	DMD	NM_004006.3(DMD):c.394C>T:p.Gln132Ter	coding	Pathogenic
X	32816610	C	A	C32816610A	DMD	NM_004006.3(DMD):c.388G>T:p.Gly130Ter	coding	Pathogenic
X	32816637	T	A	T32816637A	DMD	NM_004006.3(DMD):c.361A>T:p.Lys121Ter	coding	Pathogenic
X	32823253	A	G	A32823253G	DMD	NM_004006.3(DMD):c.357+42T>C	noncoding	Benign
X	32823294	C	A	C32823294A	DMD	NM_004006.3(DMD):c.357+1G>T	noncoding	Pathogenic
X	32823298	C	T	C32823298T	DMD	NM_004006.3(DMD):c.354G>A:p.Trp118Ter	coding	Pathogenic
X	32823299	C	T	C32823299T	DMD	NM_004006.3(DMD):c.353G>A:p.Trp118Ter	coding	Pathogenic
X	32823339	T	A	T32823339A	DMD	NM_004006.3(DMD):c.313A>T:p.Lys105Ter	coding	Pathogenic
X	32823380	A	T	A32823380T	DMD	NM_004006.3(DMD):c.272T>A:p.Leu91Ter	coding	Pathogenic
X	32823388	C	T	C32823388T	DMD	NM_004006.3(DMD):c.265-1G>A	coding	Pathogenic
X	32823397	A	G	A32823397G	DMD	NM_004006.3(DMD):c.265-10T>C	noncoding	Benign
X	32823402	G	A	G32823402A	DMD	NM_004006.3(DMD):c.265-15C>T	noncoding	Benign
X	32844767	C	G	C32844767G	DMD	NM_004006.3(DMD):c.264+16G>C	noncoding	Benign
X	32844839	T	A	T32844839A	DMD	NM_004006.3(DMD):c.208A>T:p.Arg70Ter	coding	Pathogenic
X	32844848	C	A	C32844848A	DMD	NM_004006.3(DMD):c.199G>T:p.Gly67Ter	coding	Pathogenic
X	32844854	C	A	C32844854A	DMD	NM_004006.3(DMD):c.193G>T:p.Glu65Ter	coding	Pathogenic
X	32849751	C	A	C32849751A	DMD	NM_004006.3(DMD):c.163G>T:p.Glu55Ter	coding	Pathogenic
X	32849811	G	A	G32849811A	DMD	NM_004006.3(DMD):c.103C>T:p.Gln35Ter	coding	Pathogenic
X	32849822	T	G	T32849822G	DMD	NM_004006.3(DMD):c.94-2A>C	noncoding	Pathogenic
X	33020150	G	A	G33020150A	DMD	NM_004006.3(DMD):c.82C>T:p.Gln28Ter	coding	Pathogenic
X	33020160	C	T	C33020160T	DMD	NM_004006.3(DMD):c.72G>A:p.Trp24Ter	coding	Pathogenic
X	33020161	C	T	C33020161T	DMD	NM_004006.3(DMD):c.71G>A:p.Trp24Ter	coding	Pathogenic
X	33020183	G	A	G33020183A	DMD	NM_004006.3(DMD):c.49C>T:p.Gln17Ter	coding	Pathogenic
X	33128592	C	A	C33128592A	DMD	NM_004006.3(DMD):c.31+82690G>T	noncoding	Benign
X	33128744	C	A	C33128744A	DMD	NM_004006.3(DMD):c.31+82538G>T	noncoding	Benign
X	33211301	C	T	C33211301T	DMD	NM_004006.3(DMD):c.12G>A:p.Trp4Ter	coding	Pathogenic
X	33211302	C	T	C33211302T	DMD	NM_004006.3(DMD):c.11G>A:p.Trp4Ter	coding	Pathogenic
X	33283876	G	A	G33283876A	DMD	NM_000109.4(DMD):c.7+55383C>T	noncoding	Benign
X	36104595	A	G	A36104595G	CFAP47	NM_001304548.2(CFAP47):c.5224A>G:p.Ser1742Gly	coding	Pathogenic
X	36236073	T	A	T36236073A	CFAP47	NM_001304548.2(CFAP47):c.7154T>A:p.Ile2385Asn	coding	Pathogenic
X	36350102	C	A	C36350102A	CFAP47	NM_001304548.2(CFAP47):c.8668C>A:p.Pro2890Thr	coding	Pathogenic
X	37685675	C	T	C37685675T	XK	Single_allele	noncoding	Benign
X	37686018	G	C	G37686018C	XK	NM_021083.4(XK):c.57G>C:p.Thr19=	coding	Benign
X	37727791	C	T	C37727791T	XK	NM_021083.4(XK):c.664C>T:p.Arg222Ter	coding	Pathogenic
X	37728551	A	T	A37728551T	XK	NM_021083.4(XK):c.*89A>T	noncoding	Benign
X	37780013	C	G	C37780013G	CYBB	NM_000397.4(CYBB):c.-65C>G	noncoding	Pathogenic
X	37780078	A	G	A37780078G	CYBB	NM_000397.4(CYBB):c.1A>G:p.Met1Val	coding	Pathogenic
X	37780080	G	A	G37780080A	CYBB	NM_000397.4(CYBB):c.3G>A:p.Met1Ile	coding	Pathogenic
X	37780087	T	A	T37780087A	CYBB	NM_000397.4(CYBB):c.10T>A:p.Trp4Arg	coding	Benign
X	37780089	G	A	G37780089A	CYBB	NM_000397.4(CYBB):c.12G>A:p.Trp4Ter	coding	Pathogenic
X	37782086	A	T	A37782086T	CYBB	NM_000397.4(CYBB):c.46-2A>T	noncoding	Pathogenic
X	37782141	T	C	T37782141C	CYBB	NM_000397.4(CYBB):c.99T>C:p.Tyr33=	coding	Benign
X	37782165	C	G	C37782165G	CYBB	NM_000397.4(CYBB):c.123C>G:p.Tyr41Ter	coding	Pathogenic
X	37782184	G	A	G37782184A	CYBB	NM_000397.4(CYBB):c.141+1G>A	coding	Pathogenic
X	37782184	G	C	G37782184C	CYBB	NM_000397.4(CYBB):c.141+1G>C	coding	Pathogenic
X	37782184	G	T	G37782184T	CYBB	NM_000397.4(CYBB):c.141+1G>T	coding	Pathogenic
X	37782231	C	G	C37782231G	CYBB	NM_000397.4(CYBB):c.141+48C>G	noncoding	Benign
X	37782273	C	A	C37782273A	CYBB	NM_000397.4(CYBB):c.141+90C>A	noncoding	Benign
X	37783152	G	T	G37783152T	CYBB	NM_000397.4(CYBB):c.142-338G>T	noncoding	Benign
X	37783478	C	T	C37783478T	CYBB	NM_000397.4(CYBB):c.142-12C>T	noncoding	Benign
X	37783484	T	C	T37783484C	CYBB	NM_000397.4(CYBB):c.142-6T>C	noncoding	Benign
X	37783518	C	A	C37783518A	CYBB	NM_000397.4(CYBB):c.170C>A:p.Ala57Glu	coding	Pathogenic
X	37783519	A	G	A37783519G	CYBB	NM_000397.4(CYBB):c.171A>G:p.Ala57=	coding	Benign
X	37783538	T	C	T37783538C	CYBB	NM_000397.4(CYBB):c.190T>C:p.Cys64Arg	coding	Pathogenic
X	37783564	T	C	T37783564C	CYBB	NM_000397.4(CYBB):c.216T>C:p.Cys72=	coding	Benign
X	37793361	A	G	A37793361G	CYBB	NM_000397.4(CYBB):c.338-304A>G	noncoding	Benign
X	37793664	G	C	G37793664C	CYBB	NM_000397.4(CYBB):c.338-1G>C	noncoding	Pathogenic
X	37793675	C	T	C37793675T	CYBB	NM_000397.4(CYBB):c.348C>T:p.Thr116=	coding	Benign
X	37793716	G	C	G37793716C	CYBB	NM_000397.4(CYBB):c.389G>C:p.Arg130Pro	coding	Pathogenic
X	37793888	C	T	C37793888T	CYBB	NM_000397.4(CYBB):c.483+78C>T	noncoding	Benign
X	37794014	T	C	T37794014C	CYBB	NM_000397.4(CYBB):c.483+204T>C	noncoding	Benign
X	37794789	G	T	G37794789T	CYBB	NM_000397.4(CYBB):c.483+979G>T	noncoding	Pathogenic
X	37794883	T	C	T37794883C	CYBB	NM_000397.4(CYBB):c.484-1068T>C	noncoding	Benign
X	37795693	C	T	C37795693T	CYBB	NM_000397.4(CYBB):c.484-258C>T	noncoding	Benign
X	37795890	A	G	A37795890G	CYBB	NM_000397.4(CYBB):c.484-61A>G	noncoding	Benign
X	37796016	G	A	G37796016A	CYBB	NM_000397.4(CYBB):c.549G>A:p.Thr183=	coding	Benign
X	37796070	C	G	C37796070G	CYBB	NM_000397.4(CYBB):c.603C>G:p.Tyr201Ter	coding	Pathogenic
X	37796130	C	A	C37796130A	CYBB	NM_000397.4(CYBB):c.663C>A:p.Ile221=	coding	Benign
X	37796132	A	G	A37796132G	CYBB	NM_000397.4(CYBB):c.665A>G:p.His222Arg	coding	Pathogenic
X	37796133	T	A	T37796133A	CYBB	NM_000397.4(CYBB):c.666T>A:p.His222Gln	coding	Pathogenic
X	37796142	G	A	G37796142A	CYBB	NM_000397.4(CYBB):c.674+1G>A	coding	Pathogenic
X	37796402	A	C	A37796402C	CYBB	NM_000397.4(CYBB):c.674+261A>C	noncoding	Benign
X	37798639	T	A	T37798639A	CYBB	NM_000397.4(CYBB):c.675-316T>A	noncoding	Benign
X	37798951	C	T	C37798951T	CYBB	NM_000397.4(CYBB):c.675-4C>T	noncoding	Benign
X	37798953	A	G	A37798953G	CYBB	NM_000397.4(CYBB):c.675-2A>G	noncoding	Pathogenic
X	37798976	C	T	C37798976T	CYBB	NM_000397.4(CYBB):c.696C>T:p.Thr232=	coding	Benign
X	37798977	G	A	G37798977A	CYBB	NM_000397.4(CYBB):c.697G>A:p.Ala233Thr	coding	Benign
X	37799016	C	T	C37799016T	CYBB	NM_000397.4(CYBB):c.736C>T:p.Gln246Ter	coding	Pathogenic
X	37799032	G	A	G37799032A	CYBB	NM_000397.4(CYBB):c.752G>A:p.Trp251Ter	coding	Pathogenic
X	37799086	T	C	T37799086C	CYBB	NM_000397.4(CYBB):c.804+2T>C	noncoding	Pathogenic
X	37799202	A	G	A37799202G	CYBB	NM_000397.4(CYBB):c.804+118A>G	noncoding	Benign
X	37801239	T	A	T37801239A	CYBB	NM_000397.4(CYBB):c.805-17T>A	noncoding	Benign
X	37801260	G	A	G37801260A	CYBB	NM_000397.4(CYBB):c.809G>A:p.Trp270Ter	coding	Pathogenic
X	37803991	C	T	C37803991T	CYBB	NM_000397.4(CYBB):c.1012C>T:p.His338Tyr	coding	Pathogenic
X	37804061	G	A	G37804061A	CYBB	NM_000397.4(CYBB):c.1082G>A:p.Trp361Ter	coding	Pathogenic
X	37804118	G	A	G37804118A	CYBB	NM_000397.4(CYBB):c.1139G>A:p.Trp380Ter	coding	Pathogenic/Likely_pathogenic
X	37804131	G	A	G37804131A	CYBB	NM_000397.4(CYBB):c.1151+1G>A	coding	Pathogenic
X	37805004	A	G	A37805004G	CYBB	NM_000397.4(CYBB):c.1152-2A>G	noncoding	Pathogenic
X	37805125	G	A	G37805125A	CYBB	NM_000397.4(CYBB):c.1271G>A:p.Trp424Ter	coding	Pathogenic
X	37805150	C	T	C37805150T	CYBB	NM_000397.4(CYBB):c.1296C>T:p.Thr432=	coding	Benign
X	37805169	G	A	G37805169A	CYBB	NM_000397.4(CYBB):c.1314+1G>A	coding	Pathogenic
X	37805169	G	C	G37805169C	CYBB	NM_000397.4(CYBB):c.1314+1G>C	coding	Pathogenic
X	37805188	G	A	G37805188A	CYBB	NM_000397.4(CYBB):c.1314+20G>A	noncoding	Benign
X	37806386	G	C	G37806386C	CYBB	NM_000397.4(CYBB):c.1315-1G>C	noncoding	Pathogenic
X	37806449	A	G	A37806449G	CYBB	NM_000397.4(CYBB):c.1377A>G:p.Gln459=	coding	Benign
X	37806485	C	T	C37806485T	CYBB	NM_000397.4(CYBB):c.1413C>T:p.Ala471=	coding	Benign
X	37809565	A	G	A37809565G	CYBB	NM_000397.4(CYBB):c.1462-2A>G	noncoding	Pathogenic
X	37809602	A	C	A37809602C	CYBB	NM_000397.4(CYBB):c.1497A>C:p.Lys499Asn	coding	Benign
X	37809624	C	T	C37809624T	CYBB	NM_000397.4(CYBB):c.1519C>T:p.Gln507Ter	coding	Pathogenic
X	37810821	T	C	T37810821C	CYBB	NM_000397.4(CYBB):c.1617T>C:p.Pro539=	coding	Benign
X	37810849	C	T	C37810849T	CYBB	NM_000397.4(CYBB):c.1645C>T:p.Gln549Ter	coding	Pathogenic
X	37810885	G	A	G37810885A	CYBB	NM_000397.4(CYBB):c.1681G>A:p.Val561Met	coding	Benign
X	37810889	A	G	A37810889G	CYBB	NM_000397.4(CYBB):c.1685A>G:p.His562Arg	coding	Benign
X	37810905	G	A	G37810905A	CYBB	NM_000397.4(CYBB):c.1701G>A:p.Lys567=	coding	Benign
X	38269807	G	A	G38269807A	RPGR	NM_000328.3(RPGR):c.2267C>T:p.Ser756Leu	coding	Benign/Likely_benign
X	38269937	C	T	C38269937T	RPGR	NM_000328.3(RPGR):c.2242-105G>A	noncoding	Benign
X	38273642	A	C	A38273642C	RPGR	NM_000328.3(RPGR):c.2150-165T>G	noncoding	Benign
X	38273743	A	T	A38273743T	RPGR	NM_000328.3(RPGR):c.2150-266T>A	noncoding	Benign
X	38274842	T	C	T38274842C	RPGR	NM_000328.3(RPGR):c.2149+247A>G	noncoding	Benign
X	38276710	A	C	A38276710C	RPGR	NM_000328.3(RPGR):c.1968T>G:p.Ala656_Glu657=	coding	Benign
X	38276772	C	A	C38276772A	RPGR	NM_000328.3(RPGR):c.1906G>T:p.Asp636Tyr	coding	Benign
X	38276902	C	T	C38276902T	RPGR	NM_000328.3(RPGR):c.1906-130G>A	noncoding	Benign
X	38276909	A	T	A38276909T	RPGR	NM_000328.3(RPGR):c.1906-137T>A	noncoding	Benign
X	38285307	T	G	T38285307G	RPGR	NM_001034853.2(RPGR):c.*233A>C	coding	Benign
X	38285592	C	T	C38285592T	RPGR	NM_001034853.2(RPGR):c.3407G>A:p.Gly1136Asp	coding	Benign/Likely_benign
X	38285597	T	G	T38285597G	RPGR	NM_001034853.2(RPGR):c.3402A>C:p.Pro1134=	coding	Benign
X	38285768	A	T	A38285768T	RPGR	NM_001034853.2(RPGR):c.3231T>A:p.Asn1077Lys	coding	Benign/Likely_benign
X	38285815	C	A	C38285815A	RPGR	NM_001034853.2(RPGR):c.3184G>T:p.Glu1062Ter	coding	Pathogenic
X	38285929	C	A	C38285929A	RPGR	NM_001034853.2(RPGR):c.3070G>T:p.Glu1024Ter	coding	Pathogenic
X	38286106	C	A	C38286106A	RPGR	NM_001034853.2(RPGR):c.2893G>T:p.Glu965Ter	coding	Pathogenic
X	38286136	A	C	A38286136C	RPGR	NM_001034853.2(RPGR):c.2863T>G:p.Trp955Gly	coding	Benign
X	38286191	T	A	T38286191A	RPGR	NM_001034853.2(RPGR):c.2808A>T:p.Glu936Asp	coding	Benign
X	38286198	T	C	T38286198C	RPGR	NM_001034853.2(RPGR):c.2801A>G:p.Glu934Gly	coding	Benign
X	38286529	C	A	C38286529A	RPGR	NM_001034853.2(RPGR):c.2470G>T:p.Gly824Ter	coding	Pathogenic
X	38286706	C	A	C38286706A	RPGR	NM_001034853.2(RPGR):c.2293G>T:p.Glu765Ter	coding	Pathogenic
X	38286781	C	A	C38286781A	RPGR	NM_001034853.2(RPGR):c.2218G>T:p.Glu740Ter	coding	Pathogenic
X	38286942	A	T	A38286942T	RPGR	NM_001034853.2(RPGR):c.2057T>A:p.Met686Lys	coding	Benign
X	38287119	G	C	G38287119C	RPGR	NM_001034853.2(RPGR):c.1880C>G:p.Ser627Ter	coding	Pathogenic
X	38287348	G	A	G38287348A	RPGR	NM_001034853.2(RPGR):c.1754-103C>T	noncoding	Benign
X	38287886	G	A	G38287886A	RPGR	NM_001034853.2(RPGR):c.1728C>T:p.Ile576=	coding	Benign
X	38288039	T	C	T38288039C	RPGR	NM_001034853.2(RPGR):c.1575A>G:p.Lys525=	coding	Benign
X	38290990	G	C	G38290990C	RPGR	NM_001034853.2(RPGR):c.1541C>G:p.Ser514Ter	coding	Pathogenic
X	38291121	A	G	A38291121G	RPGR	NM_001034853.2(RPGR):c.1507-97T>C	noncoding	Benign
X	38291125	T	A	T38291125A	RPGR	NM_001034853.2(RPGR):c.1507-101A>T	noncoding	Benign
X	38297157	T	C	T38297157C	RPGR	NM_001034853.2(RPGR):c.1414+127A>G	noncoding	Benign
X	38298981	G	T	G38298981T	RPGR	NM_001034853.2(RPGR):c.1220C>A:p.Ser407Ter	coding	Pathogenic
X	38299038	G	A	G38299038A	RPGR	NM_001034853.2(RPGR):c.1163C>T:p.Ala388Val	coding	Benign/Likely_benign
X	38299081	C	A	C38299081A	RPGR	NM_001034853.2(RPGR):c.1120G>T:p.Glu374Ter	coding	Pathogenic/Likely_pathogenic
X	38299096	G	A	G38299096A	RPGR	NM_001034853.2(RPGR):c.1105C>T:p.Arg369Cys	coding	Benign
X	38299344	C	T	C38299344T	RPGR	NM_001034853.2(RPGR):c.1060-203G>A	noncoding	Benign
X	38300838	A	G	A38300838G	RPGR	NM_001034853.2(RPGR):c.1059+409T>C	noncoding	Benign
X	38301180	T	C	T38301180C	RPGR	NM_001034853.2(RPGR):c.1059+67A>G	noncoding	Benign
X	38301442	C	T	C38301442T	RPGR	NM_001034853.2(RPGR):c.935-71G>A	noncoding	Benign
X	38301648	A	G	A38301648G	RPGR	NM_001034853.2(RPGR):c.935-277T>C	noncoding	Benign
X	38304633	A	G	A38304633G	RPGR	NM_001034853.2(RPGR):c.934+2T>C	noncoding	Pathogenic
X	38304672	A	T	A38304672T	RPGR	NM_001034853.2(RPGR):c.897T>A:p.Tyr299Ter	coding	Pathogenic
X	38304792	T	C	T38304792C	RPGR	NM_001034853.2(RPGR):c.779-2A>G	noncoding	Pathogenic
X	38310687	G	A	G38310687A	RPGR	NM_001034853.2(RPGR):c.706C>T:p.Gln236Ter	coding	Pathogenic
X	38310728	A	C	A38310728C	RPGR	NM_001034853.2(RPGR):c.665T>G:p.Leu222Ter	coding	Pathogenic
X	38310814	A	G	A38310814G	RPGR	NM_001034853.2(RPGR):c.620-41T>C	noncoding	Benign/Likely_benign
X	38310878	C	G	C38310878G	RPGR	NM_001034853.2(RPGR):c.620-105G>C	noncoding	Benign
X	38317008	A	C	A38317008C	RPGR	NM_001034853.2(RPGR):c.619+308T>G	noncoding	Benign
X	38318714	T	C	T38318714C	RPGR	NM_001034853.2(RPGR):c.469+115A>G	noncoding	Benign
X	38318766	G	A	G38318766A	RPGR	NM_001034853.2(RPGR):c.469+63C>T	noncoding	Benign
X	38318904	C	T	C38318904T	RPGR	NM_001034853.2(RPGR):c.394G>A:p.Val132Ile	coding	Benign
X	38320757	G	A	G38320757A	RPGR	NM_001034853.2(RPGR):c.310+270C>T	noncoding	Benign
X	38320860	C	T	C38320860T	RPGR	NM_001034853.2(RPGR):c.310+167G>A	noncoding	Benign
X	38321017	A	G	A38321017G	RPGR	NM_001034853.2(RPGR):c.310+10T>C	noncoding	Benign
X	38322648	G	A	G38322648A	RPGR	NM_001034853.2(RPGR):c.247+205C>T	noncoding	Benign
X	38322816	T	G	T38322816G	RPGR	NM_001034853.2(RPGR):c.247+37A>C	noncoding	Benign
X	38322906	C	T	C38322906T	RPGR	NM_001034853.2(RPGR):c.194G>A:p.Gly65Asp	coding	Pathogenic/Likely_pathogenic
X	38323385	A	G	A38323385G	RPGR	NM_001034853.2(RPGR):c.154+14T>C	noncoding	Benign
X	38327419	G	T	G38327419T	RPGR	NM_001034853.2(RPGR):c.-52C>A	noncoding	Benign
X	38367360	C	T	C38367360T	OTC	NM_000531.6(OTC):c.147C>T:p.Thr49=	coding	Benign/Likely_benign
X	38401317	T	A	T38401317A	OTC	NM_000531.6(OTC):c.429T>A:p.Tyr143Ter	coding	Pathogenic
X	38401337	C	T	C38401337T	OTC	NM_000531.6(OTC):c.449C>T:p.Thr150Ile	coding	Benign
X	38401386	G	T	G38401386T	OTC	NM_000531.6(OTC):c.498G>T:p.Leu166Phe	coding	Benign
X	38401393	C	T	C38401393T	OTC	NM_000531.6(OTC):c.505C>T:p.Pro169Ser	coding	Pathogenic
X	38401562	G	A	G38401562A	OTC	NM_000531.6(OTC):c.540+134G>A	noncoding	Benign
X	38401631	C	A	C38401631A	OTC	NM_000531.6(OTC):c.540+203C>A	noncoding	Benign
X	38401883	A	G	A38401883G	OTC	NM_000531.6(OTC):c.540+455A>G	noncoding	Benign
X	38401917	A	G	A38401917G	OTC	NM_000531.6(OTC):c.540+489A>G	noncoding	Benign
X	38403633	C	T	C38403633T	OTC	NM_000531.6(OTC):c.556C>T:p.Leu186=	coding	Benign
X	38403656	G	T	G38403656T	OTC	NM_000531.6(OTC):c.579G>T:p.Trp193Cys	coding	Pathogenic
X	38403691	T	C	T38403691C	OTC	NM_000531.6(OTC):c.614T>C:p.Met205Thr	coding	Pathogenic
X	38403757	C	T	C38403757T	OTC	NM_000531.6(OTC):c.663+17C>T	noncoding	Benign
X	38408455	C	T	C38408455T	OTC	NM_000531.6(OTC):c.664-287C>T	noncoding	Benign
X	38408858	C	T	C38408858T	OTC	NM_000531.6(OTC):c.718-18C>T	noncoding	Benign
X	38408932	T	C	T38408932C	OTC	NM_000531.6(OTC):c.774T>C:p.Asn258=	coding	Benign
X	38409930	T	C	T38409930C	OTC	NM_000531.6(OTC):c.867+905T>C	noncoding	Benign
X	38411846	A	G	A38411846G	OTC	NM_000531.6(OTC):c.868-16A>G	noncoding	Benign
X	38411897	A	T	A38411897T	OTC	NM_000531.6(OTC):c.903A>T:p.Leu301Phe	coding	Pathogenic/Likely_pathogenic
X	38411982	A	G	A38411982G	OTC	NM_000531.6(OTC):c.988A>G:p.Arg330Gly	coding	Pathogenic/Likely_pathogenic
X	38420953	C	T	C38420953T	OTC	NM_000531.6(OTC):c.1006-70C>T	noncoding	Benign
X	38421009	T	C	T38421009C	OTC	NM_000531.6(OTC):c.1006-14T>C	noncoding	Benign
X	40052319	G	A	G40052319A	BCOR	NM_001123385.2(BCOR):c.5058C>T:p.Asn1686=	coding	Benign
X	40052582	G	T	G40052582T	BCOR	NM_001123385.2(BCOR):c.4977-182C>A	noncoding	Benign
X	40053817	C	T	C40053817T	BCOR	NM_001123385.2(BCOR):c.4976+69G>A	noncoding	Benign
X	40054310	G	A	G40054310A	BCOR	NM_001123385.2(BCOR):c.4765C>T:p.Arg1589Cys	coding	Benign
X	40054402	C	T	C40054402T	BCOR	NM_001123385.2(BCOR):c.4742-69G>A	noncoding	Benign
X	40057169	G	A	G40057169A	BCOR	NM_001123385.2(BCOR):c.4581C>T:p.Ala1527=	coding	Benign
X	40057190	G	C	G40057190C	BCOR	NM_001123385.2(BCOR):c.4560C>G:p.Gly1520=	coding	Benign
X	40057253	G	T	G40057253T	BCOR	NM_001123385.2(BCOR):c.4497C>A:p.Cys1499Ter	coding	Pathogenic
X	40057356	A	G	A40057356G	BCOR	NM_001123385.2(BCOR):c.4429-35T>C	noncoding	Benign
X	40062413	C	T	C40062413T	BCOR	NM_001123385.2(BCOR):c.4174-20G>A	noncoding	Benign
X	40062619	A	C	A40062619C	BCOR	NM_001123385.2(BCOR):c.4173+127T>G	noncoding	Benign
X	40062911	G	A	G40062911A	BCOR	NM_001123385.2(BCOR):c.4008C>T:p.Asp1336=	coding	Benign
X	40063106	A	G	A40063106G	BCOR	NM_001123385.2(BCOR):c.3848-35T>C	noncoding	Benign
X	40063642	C	T	C40063642T	BCOR	NM_001123385.2(BCOR):c.3813G>A:p.Ser1271=	coding	Benign
X	40063806	G	A	G40063806A	BCOR	NM_001123385.2(BCOR):c.3649C>T:p.Arg1217Ter	coding	Pathogenic
X	40064428	T	C	T40064428C	BCOR	NM_001123385.2(BCOR):c.3410A>G:p.Lys1137Arg	coding	Benign
X	40064533	A	C	A40064533C	BCOR	NM_001123385.2(BCOR):c.3305T>G:p.Val1102Gly	coding	Benign/Likely_benign
X	40072448	G	A	G40072448A	BCOR	NM_001123385.2(BCOR):c.2898C>T:p.Ile966=	coding	Benign
X	40072577	T	C	T40072577C	BCOR	NM_001123385.2(BCOR):c.2769A>G:p.Pro923=	coding	Benign
X	40072729	G	A	G40072729A	BCOR	NM_001123385.2(BCOR):c.2617C>T:p.Gln873Ter	coding	Pathogenic
X	40072834	G	A	G40072834A	BCOR	NM_001123385.2(BCOR):c.2512C>T:p.Pro838Ser	coding	Benign
X	40073695	C	T	C40073695T	BCOR	NM_001123385.2(BCOR):c.1651G>A:p.Asp551Asn	coding	Benign
X	40074104	C	T	C40074104T	BCOR	NM_001123385.2(BCOR):c.1242G>A:p.Ala414=	coding	Benign
X	40074607	G	A	G40074607A	BCOR	NM_001123385.2(BCOR):c.739C>T:p.Leu247=	coding	Benign
X	40074891	G	A	G40074891A	BCOR	NM_001123385.2(BCOR):c.455C>T:p.Pro152Leu	coding	Benign
X	40075104	C	T	C40075104T	BCOR	NM_001123385.2(BCOR):c.242G>A:p.Gly81Glu	coding	Benign
X	40075158	C	T	C40075158T	BCOR	NM_001123385.2(BCOR):c.188G>A:p.Arg63Lys	coding	Benign
X	40075167	G	A	G40075167A	BCOR	NM_001123385.2(BCOR):c.179C>T:p.Thr60Met	coding	Benign
X	40076734	G	A	G40076734A	BCOR	NM_001123385.2(BCOR):c.87-202C>T	noncoding	Benign
X	40597674	G	C	G40597674C	ATP6AP2	NM_005765.3(ATP6AP2):c.534+10G>C	noncoding	Benign/Likely_benign
X	40597709	G	C	G40597709C	ATP6AP2	NM_005765.3(ATP6AP2):c.534+45G>C	noncoding	Benign
X	40599794	C	T	C40599794T	ATP6AP2	NM_005765.3(ATP6AP2):c.738+53C>T	noncoding	Benign
X	40605411	G	A	G40605411A	ATP6AP2	NM_005765.3(ATP6AP2):c.859-150G>A	noncoding	Benign
X	40606021	A	T	A40606021T	ATP6AP2	NM_005765.3(ATP6AP2):c.*266A>T	noncoding	Benign
X	41123142	G	A	G41123142A	USP9X	NM_001039591.3(USP9X):c.-158-329G>A	noncoding	Benign
X	41123184	G	A	G41123184A	USP9X	NM_001039591.3(USP9X):c.-158-287G>A	noncoding	Benign
X	41123388	C	T	C41123388T	USP9X	NM_001039591.3(USP9X):c.-158-83C>T	noncoding	Benign
X	41123680	C	T	C41123680T	USP9X	NM_001039591.3(USP9X):c.52C>T:p.Gln18Ter	coding	Pathogenic
X	41131284	G	T	G41131284T	USP9X	NM_001039591.3(USP9X):c.243-173G>T	noncoding	Benign
X	41131518	A	G	A41131518G	USP9X	NM_001039591.3(USP9X):c.304A>G:p.Ile102Val	coding	Benign
X	41134453	A	G	A41134453G	USP9X	NM_001039591.3(USP9X):c.323-272A>G	noncoding	Benign
X	41134654	T	G	T41134654G	USP9X	NM_001039591.3(USP9X):c.323-71T>G	noncoding	Benign
X	41134685	G	A	G41134685A	USP9X	NM_001039591.3(USP9X):c.323-40G>A	noncoding	Benign
X	41134873	A	G	A41134873G	USP9X	NM_001039591.3(USP9X):c.435+36A>G	noncoding	Benign
X	41136567	T	A	T41136567A	USP9X	NM_001039591.3(USP9X):c.436-237T>A	noncoding	Benign
X	41137060	A	G	A41137060G	USP9X	NM_001039591.3(USP9X):c.654+38A>G	noncoding	Benign
X	41140340	A	C	A41140340C	USP9X	NM_001039591.3(USP9X):c.655-316A>C	noncoding	Benign
X	41140431	G	A	G41140431A	USP9X	NM_001039591.3(USP9X):c.655-225G>A	noncoding	Benign
X	41140600	C	A	C41140600A	USP9X	NM_001039591.3(USP9X):c.655-56C>A	noncoding	Benign
X	41141624	A	G	A41141624G	USP9X	NM_001039591.3(USP9X):c.1161+193A>G	noncoding	Benign
X	41143591	T	C	T41143591C	USP9X	NM_001039591.3(USP9X):c.1314+148T>C	noncoding	Benign
X	41144259	G	T	G41144259T	USP9X	NM_001039591.3(USP9X):c.1315-263G>T	noncoding	Benign
X	41144650	T	C	T41144650C	USP9X	NM_001039591.3(USP9X):c.1419+24T>C	noncoding	Benign
X	41148687	C	T	C41148687T	USP9X	NM_001039591.3(USP9X):c.1626+112C>T	noncoding	Benign
X	41152673	G	A	G41152673A	USP9X	NM_001039591.3(USP9X):c.1764-275G>A	noncoding	Benign
X	41152849	G	T	G41152849T	USP9X	NM_001039591.3(USP9X):c.1764-99G>T	noncoding	Benign
X	41152898	A	G	A41152898G	USP9X	NM_001039591.3(USP9X):c.1764-50A>G	noncoding	Benign
X	41153361	A	C	A41153361C	USP9X	NM_001039591.3(USP9X):c.1897+280A>C	noncoding	Benign
X	41153380	T	C	T41153380C	USP9X	NM_001039591.3(USP9X):c.1897+299T>C	noncoding	Benign
X	41162812	A	C	A41162812C	USP9X	NM_001039591.3(USP9X):c.1920A>C:p.Gln640His	coding	Benign
X	41165852	A	G	A41165852G	USP9X	NM_001039591.3(USP9X):c.1986-20A>G	noncoding	Benign
X	41165912	C	T	C41165912T	USP9X	NM_001039591.3(USP9X):c.2026C>T:p.Gln676Ter	coding	Pathogenic
X	41167433	C	A	C41167433A	USP9X	NM_001039591.3(USP9X):c.2329-49C>A	noncoding	Benign
X	41170588	A	G	A41170588G	USP9X	NM_001039591.3(USP9X):c.2996A>G:p.Asn999Ser	coding	Benign
X	41170648	A	C	A41170648C	USP9X	NM_001039591.3(USP9X):c.3027+29A>C	noncoding	Benign
X	41171650	T	A	T41171650A	USP9X	NM_001039591.3(USP9X):c.3028-188T>A	noncoding	Benign
X	41171804	T	C	T41171804C	USP9X	NM_001039591.3(USP9X):c.3028-34T>C	noncoding	Benign
X	41171876	G	A	G41171876A	USP9X	NM_001039591.3(USP9X):c.3066G>A:p.Trp1022Ter	coding	Pathogenic
X	41172166	G	T	G41172166T	USP9X	NM_001039591.3(USP9X):c.3148+208G>T	noncoding	Benign
X	41184351	T	A	T41184351A	USP9X	NM_001039591.3(USP9X):c.3280-46T>A	noncoding	Benign
X	41184691	T	C	T41184691C	USP9X	NM_001039591.3(USP9X):c.3558+16T>C	noncoding	Benign
X	41184712	A	C	A41184712C	USP9X	NM_001039591.3(USP9X):c.3558+37A>C	noncoding	Benign
X	41187979	C	T	C41187979T	USP9X	NM_001039591.3(USP9X):c.3685-13C>T	noncoding	Benign
X	41187980	G	A	G41187980A	USP9X	NM_001039591.3(USP9X):c.3685-12G>A	noncoding	Benign
X	41196058	G	C	G41196058C	USP9X	NM_001039591.3(USP9X):c.3978-193G>C	noncoding	Benign
X	41196356	G	A	G41196356A	USP9X	NM_001039591.3(USP9X):c.4083G>A:p.Leu1361=	coding	Benign
X	41196801	A	G	A41196801G	USP9X	NM_001039591.3(USP9X):c.4233+63A>G	noncoding	Benign
X	41197150	A	G	A41197150G	USP9X	NM_001039591.3(USP9X):c.4234-214A>G	noncoding	Benign
X	41197181	A	G	A41197181G	USP9X	NM_001039591.3(USP9X):c.4234-183A>G	noncoding	Benign
X	41197341	A	C	A41197341C	USP9X	NM_001039591.3(USP9X):c.4234-23A>C	noncoding	Benign
X	41197346	A	C	A41197346C	USP9X	NM_001039591.3(USP9X):c.4234-18A>C	noncoding	Benign
X	41197353	G	C	G41197353C	USP9X	NM_001039591.3(USP9X):c.4234-11G>C	noncoding	Benign
X	41197356	T	C	T41197356C	USP9X	NM_001039591.3(USP9X):c.4234-8T>C	noncoding	Benign
X	41198477	T	C	T41198477C	USP9X	NM_001039591.3(USP9X):c.4381-51T>C	noncoding	Benign
X	41198485	T	C	T41198485C	USP9X	NM_001039591.3(USP9X):c.4381-43T>C	noncoding	Benign
X	41198769	A	G	A41198769G	USP9X	NM_001039591.3(USP9X):c.4603+19A>G	noncoding	Benign/Likely_benign
X	41198790	A	G	A41198790G	USP9X	NM_001039591.3(USP9X):c.4603+40A>G	noncoding	Benign
X	41198879	G	A	G41198879A	USP9X	NM_001039591.3(USP9X):c.4603+129G>A	noncoding	Benign
X	41198886	A	T	A41198886T	USP9X	NM_001039591.3(USP9X):c.4603+136A>T	noncoding	Benign
X	41201124	C	T	C41201124T	USP9X	NM_001039591.3(USP9X):c.4668C>T:p.Phe1556=	coding	Benign/Likely_benign
X	41201305	T	C	T41201305C	USP9X	NM_001039591.3(USP9X):c.4824+25T>C	noncoding	Benign
X	41201360	A	G	A41201360G	USP9X	NM_001039591.3(USP9X):c.4824+80A>G	noncoding	Benign
X	41210416	G	A	G41210416A	USP9X	NM_001039591.3(USP9X):c.5016-93G>A	noncoding	Benign
X	41210546	G	A	G41210546A	USP9X	NM_001039591.3(USP9X):c.5053G>A:p.Asp1685Asn	coding	Pathogenic
X	41214477	A	T	A41214477T	USP9X	NM_001039591.3(USP9X):c.5190-91A>T	noncoding	Benign
X	41214481	A	G	A41214481G	USP9X	NM_001039591.3(USP9X):c.5190-87A>G	noncoding	Benign
X	41215907	C	T	C41215907T	USP9X	NM_001039591.3(USP9X):c.5340C>T:p.Thr1780=	coding	Benign
X	41216491	C	G	C41216491G	USP9X	NM_001039591.3(USP9X):c.5924C>G:p.Thr1975Ser	coding	Benign
X	41218052	G	A	G41218052A	USP9X	NM_001039591.3(USP9X):c.6210-320G>A	noncoding	Benign
X	41223195	C	T	C41223195T	USP9X	NM_001039591.3(USP9X):c.6566-22C>T	noncoding	Benign
X	41224707	A	C	A41224707C	USP9X	NM_001039591.3(USP9X):c.6752-35A>C	noncoding	Benign
X	41225157	C	T	C41225157T	USP9X	NM_001039591.3(USP9X):c.7061+20C>T	noncoding	Benign
X	41225281	G	C	G41225281C	USP9X	NM_001039591.3(USP9X):c.7061+144G>C	noncoding	Benign
X	41225389	G	A	G41225389A	USP9X	NM_001039591.3(USP9X):c.7061+252G>A	noncoding	Benign
X	41230341	T	G	T41230341G	USP9X	NM_001039591.3(USP9X):c.7432-160T>G	noncoding	Benign
X	41230587	G	A	G41230587A	USP9X	NM_001039591.3(USP9X):c.7518G>A:p.Gln2506=	coding	Benign
X	41232688	A	G	A41232688G	USP9X	NM_001039591.3(USP9X):c.*164A>G	noncoding	Benign
X	41334294	G	C	G41334294C	DDX3X	NM_001356.5(DDX3X):c.42G>C:p.Gln14His	coding	Benign
X	41334316	A	G	A41334316G	DDX3X	NM_001356.5(DDX3X):c.45+19A>G	noncoding	Benign
X	41334492	C	T	C41334492T	DDX3X	NM_001356.5(DDX3X):c.45+195C>T	noncoding	Benign
X	41334493	C	T	C41334493T	DDX3X	NM_001356.5(DDX3X):c.45+196C>T	noncoding	Benign
X	41337164	C	T	C41337164T	DDX3X	NM_001356.5(DDX3X):c.46-244C>T	noncoding	Benign
X	41337396	A	T	A41337396T	DDX3X	NM_001356.5(DDX3X):c.46-12A>T	noncoding	Benign
X	41337433	C	A	C41337433A	DDX3X	NM_001356.5(DDX3X):c.71C>A:p.Ser24Ter	coding	Pathogenic
X	41339045	A	G	A41339045G	DDX3X	NM_001356.5(DDX3X):c.113A>G:p.Tyr38Cys	coding	Pathogenic/Likely_pathogenic
X	41339084	G	A	G41339084A	DDX3X	NM_001356.5(DDX3X):c.151+1G>A	coding	Pathogenic
X	41339203	T	C	T41339203C	DDX3X	NM_001356.5(DDX3X):c.151+120T>C	noncoding	Benign
X	41341479	C	G	C41341479G	DDX3X	NM_001356.5(DDX3X):c.152-5C>G	noncoding	Benign
X	41341491	C	T	C41341491T	DDX3X	NM_001356.5(DDX3X):c.159C>T:p.Tyr53=	coding	Benign/Likely_benign
X	41341502	G	A	G41341502A	DDX3X	NM_001356.5(DDX3X):c.170G>A:p.Ser57Asn	coding	Benign
X	41341513	A	G	A41341513G	DDX3X	NM_001356.5(DDX3X):c.181A>G:p.Ser61Gly	coding	Benign/Likely_benign
X	41341539	T	G	T41341539G	DDX3X	NM_001356.5(DDX3X):c.207T>G:p.Tyr69Ter	coding	Pathogenic
X	41341905	C	G	C41341905G	DDX3X	NM_001356.5(DDX3X):c.284+289C>G	noncoding	Benign
X	41342669	G	T	G41342669T	DDX3X	NM_001356.5(DDX3X):c.443+16G>T	noncoding	Benign
X	41342671	A	T	A41342671T	DDX3X	NM_001356.5(DDX3X):c.443+18A>T	noncoding	Benign
X	41342672	T	C	T41342672C	DDX3X	NM_001356.5(DDX3X):c.443+19T>C	noncoding	Benign
X	41342719	T	C	T41342719C	DDX3X	NM_001356.5(DDX3X):c.444-18T>C	noncoding	Benign
X	41342782	C	T	C41342782T	DDX3X	NM_001356.5(DDX3X):c.489C>T:p.Tyr163=	coding	Benign/Likely_benign
X	41342906	G	A	G41342906A	DDX3X	NM_001356.5(DDX3X):c.543+70G>A	noncoding	Benign
X	41343196	C	A	C41343196A	DDX3X	NM_001356.5(DDX3X):c.544-20C>A	noncoding	Benign
X	41343237	G	T	G41343237T	DDX3X	NM_001356.5(DDX3X):c.565G>T:p.Glu189Ter	coding	Pathogenic
X	41343272	T	A	T41343272A	DDX3X	NM_001356.5(DDX3X):c.600T>A:p.Tyr200Ter	coding	Pathogenic
X	41343286	C	T	C41343286T	DDX3X	NM_001356.5(DDX3X):c.614C>T:p.Pro205Leu	coding	Pathogenic
X	41343365	A	G	A41343365G	DDX3X	NM_001356.5(DDX3X):c.679+14A>G	noncoding	Benign
X	41343476	G	T	G41343476T	DDX3X	NM_001356.5(DDX3X):c.679+125G>T	noncoding	Benign
X	41343778	C	T	C41343778T	DDX3X	NM_001356.5(DDX3X):c.721C>T:p.Gln241Ter	coding	Pathogenic
X	41343788	C	G	C41343788G	DDX3X	NM_001356.5(DDX3X):c.731C>G:p.Ser244Ter	coding	Pathogenic
X	41343801	C	T	C41343801T	DDX3X	NM_001356.5(DDX3X):c.744C>T:p.Gly248=	coding	Pathogenic/Likely_pathogenic
X	41343866	G	A	G41343866A	DDX3X	NM_001356.5(DDX3X):c.765+44G>A	noncoding	Benign
X	41344105	C	T	C41344105T	DDX3X	NM_001356.5(DDX3X):c.841C>T:p.Gln281Ter	coding	Pathogenic
X	41344249	G	T	G41344249T	DDX3X	NM_001356.5(DDX3X):c.875G>T:p.Arg292Leu	coding	Pathogenic
X	41344268	C	A	C41344268A	DDX3X	NM_001356.5(DDX3X):c.894C>A:p.Cys298Ter	coding	Pathogenic
X	41344268	C	T	C41344268T	DDX3X	NM_001356.5(DDX3X):c.894C>T:p.Cys298=	coding	Benign
X	41344400	G	A	G41344400A	DDX3X	NM_001356.5(DDX3X):c.1025+1G>A	coding	Pathogenic
X	41344423	T	G	T41344423G	DDX3X	NM_001356.5(DDX3X):c.1025+24T>G	noncoding	Benign
X	41344625	G	A	G41344625A	DDX3X	NM_001356.5(DDX3X):c.1025+226G>A	noncoding	Benign
X	41344665	T	C	T41344665C	DDX3X	NM_001356.5(DDX3X):c.1025+266T>C	noncoding	Benign
X	41345245	T	G	T41345245G	DDX3X	NM_001356.5(DDX3X):c.1091T>G:p.Ile364Arg	coding	Pathogenic
X	41345249	C	T	C41345249T	DDX3X	NM_001356.5(DDX3X):c.1095C>T:p.Val365=	coding	Benign/Likely_benign
X	41345389	T	A	T41345389A	DDX3X	NM_001356.5(DDX3X):c.1171-15T>A	noncoding	Benign
X	41345402	A	G	A41345402G	DDX3X	NM_001356.5(DDX3X):c.1171-2A>G	noncoding	Pathogenic
X	41345424	A	G	A41345424G	DDX3X	NM_001356.5(DDX3X):c.1191A>G:p.Leu397=	coding	Benign/Likely_benign
X	41345494	T	G	T41345494G	DDX3X	NM_001356.5(DDX3X):c.1261T>G:p.Trp421Gly	coding	Pathogenic
X	41345507	C	G	C41345507G	DDX3X	NM_001356.5(DDX3X):c.1274C>G:p.Ser425Ter	coding	Pathogenic
X	41346223	C	T	C41346223T	DDX3X	NM_001356.5(DDX3X):c.1316-6C>T	noncoding	Benign
X	41346415	G	A	G41346415A	DDX3X	NM_001356.5(DDX3X):c.1497+5G>A	noncoding	Benign/Likely_benign
X	41346534	T	C	T41346534C	DDX3X	NM_001356.5(DDX3X):c.1527T>C:p.Asn509=	coding	Benign/Likely_benign
X	41346589	C	T	C41346589T	DDX3X	NM_001356.5(DDX3X):c.1582C>T:p.Arg528Cys	coding	Pathogenic/Likely_pathogenic
X	41346600	T	C	T41346600C	DDX3X	NM_001356.5(DDX3X):c.1593T>C:p.Arg531=	coding	Benign/Likely_benign
X	41346603	G	A	G41346603A	DDX3X	NM_001356.5(DDX3X):c.1596G>A:p.Thr532=	coding	Benign
X	41346856	T	C	T41346856C	DDX3X	NM_001356.5(DDX3X):c.1616-3T>C	noncoding	Benign
X	41346919	T	A	T41346919A	DDX3X	NM_001356.5(DDX3X):c.1676T>A:p.Leu559His	coding	Pathogenic/Likely_pathogenic
X	41346936	C	T	C41346936T	DDX3X	NM_001356.5(DDX3X):c.1693C>T:p.Gln565Ter	coding	Pathogenic
X	41346971	T	G	T41346971G	DDX3X	NM_001356.5(DDX3X):c.1728T>G:p.Tyr576Ter	coding	Pathogenic
X	41347296	A	G	A41347296G	DDX3X	NM_001356.5(DDX3X):c.1770-16A>G	noncoding	Benign
X	41347348	C	G	C41347348G	DDX3X	NM_001356.5(DDX3X):c.1806C>G:p.Tyr602Ter	coding	Pathogenic
X	41347462	T	C	T41347462C	DDX3X	NM_001356.5(DDX3X):c.1909+11T>C	noncoding	Benign
X	41447942	G	A	G41447942A	NYX	NM_001378477.3(NYX):c.22+16G>A	noncoding	Benign
X	41474605	C	T	C41474605T	NYX	NM_001378477.3(NYX):c.1137C>T:p.Gly379=	coding	Benign
X	41474651	G	A	G41474651A	NYX	NM_001378477.3(NYX):c.1183G>A:p.Gly395Ser	coding	Benign/Likely_benign
X	41474680	C	T	C41474680T	NYX	NM_001378477.3(NYX):c.1212C>T:p.Thr404=	coding	Benign/Likely_benign
X	41474697	G	A	G41474697A	NYX	NM_001378477.3(NYX):c.1229G>A:p.Ser410Asn	coding	Benign
X	41474722	G	A	G41474722A	NYX	NM_001378477.3(NYX):c.1254G>A:p.Pro418=	coding	Benign
X	41523748	C	T	C41523748T	CASK	NM_001367721.1(CASK):c.2604+203G>A	noncoding	Benign
X	41523986	T	C	T41523986C	CASK	NM_001367721.1(CASK):c.2569A>G:p.Ile857Val	coding	Benign
X	41524044	G	A	G41524044A	CASK	NM_001367721.1(CASK):c.2521-10C>T	noncoding	Benign
X	41524202	C	T	C41524202T	CASK	NM_001367721.1(CASK):c.2521-168G>A	noncoding	Benign
X	41531019	G	A	G41531019A	CASK	NM_001367721.1(CASK):c.2508C>T:p.Asp836_Val837=	coding	Benign/Likely_benign
X	41531046	G	A	G41531046A	CASK	NM_001367721.1(CASK):c.2481C>T:p.His827_Glu828=	coding	Benign
X	41531184	G	A	G41531184A	CASK	NM_001367721.1(CASK):c.2343C>T:p.Asp781_Glu782=	coding	Benign
X	41534701	C	T	C41534701T	CASK	NM_001367721.1(CASK):c.2317+5G>A	noncoding	Pathogenic
X	41542708	A	T	A41542708T	CASK	NM_001367721.1(CASK):c.2138T>A:p.Leu713Ter	coding	Pathogenic
X	41542808	T	C	T41542808C	CASK	NM_001367721.1(CASK):c.2040-2A>G	noncoding	Pathogenic
X	41542813	C	T	C41542813T	CASK	NM_001367721.1(CASK):c.2040-7G>A	noncoding	Benign
X	41542823	G	T	G41542823T	CASK	NM_001367721.1(CASK):c.2040-17C>A	noncoding	Benign/Likely_benign
X	41553718	C	T	C41553718T	CASK	NM_001367721.1(CASK):c.2039+1G>A	noncoding	Pathogenic
X	41553786	G	A	G41553786A	CASK	NM_001367721.1(CASK):c.1972C>T:p.Gln658Ter	coding	Pathogenic
X	41555559	T	A	T41555559A	CASK	NM_001367721.1(CASK):c.1842+41A>T	noncoding	Benign
X	41557012	T	A	T41557012A	CASK	NM_001367721.1(CASK):c.1806+20A>T	noncoding	Benign
X	41561549	A	G	A41561549G	CASK	NM_001367721.1(CASK):c.1668+10T>C	noncoding	Benign
X	41561651	A	C	A41561651C	CASK	NM_001367721.1(CASK):c.1583-7T>G	noncoding	Benign
X	41569671	G	A	G41569671A	CASK	NM_001367721.1(CASK):c.1579C>T:p.Gln527Ter	coding	Pathogenic
X	41578322	C	A	C41578322A	CASK	NM_001367721.1(CASK):c.1503+18G>T	noncoding	Benign
X	41578481	A	G	A41578481G	CASK	NM_001367721.1(CASK):c.1362T>C:p.Asp454_Glu455=	coding	Benign
X	41578511	G	A	G41578511A	CASK	NM_001367721.1(CASK):c.1332C>T:p.His444_Asp445=	coding	Benign
X	41586889	A	G	A41586889G	CASK	NM_001367721.1(CASK):c.1314+18T>C	noncoding	Benign
X	41586937	T	C	T41586937C	CASK	NM_001367721.1(CASK):c.1284A>G:p.Leu428_Lys429=	coding	Benign
X	41586946	T	C	T41586946C	CASK	NM_001367721.1(CASK):c.1275A>G:p.Ala425_Lys426=	coding	Benign
X	41587009	C	T	C41587009T	CASK	NM_001367721.1(CASK):c.1234-22G>A	noncoding	Benign
X	41587017	C	T	C41587017T	CASK	NM_001367721.1(CASK):c.1234-30G>A	noncoding	Benign
X	41587245	G	C	G41587245C	CASK	NM_001367721.1(CASK):c.1234-258C>G	noncoding	Benign
X	41589497	A	G	A41589497G	CASK	NM_001367721.1(CASK):c.1233+18T>C	noncoding	Benign
X	41589498	T	G	T41589498G	CASK	NM_001367721.1(CASK):c.1233+17A>C	noncoding	Benign
X	41589607	A	C	A41589607C	CASK	NM_001367721.1(CASK):c.1156-15T>G	noncoding	Benign
X	41626681	G	C	G41626681C	CASK	NM_001367721.1(CASK):c.938C>G:p.Ser313Ter	coding	Pathogenic
X	41626718	T	C	T41626718C	CASK	NM_001367721.1(CASK):c.916-15A>G	noncoding	Benign
X	41636672	T	C	T41636672C	CASK	NM_001367721.1(CASK):c.832-11A>G	noncoding	Benign
X	41660445	C	T	C41660445T	CASK	NM_001367721.1(CASK):c.825G>A:p.Trp275Ter	coding	Pathogenic
X	41660506	C	T	C41660506T	CASK	NM_001367721.1(CASK):c.764G>A:p.Arg255His	coding	Pathogenic/Likely_pathogenic
X	41665385	T	C	T41665385C	CASK	NM_001367721.1(CASK):c.600A>G:p.Val200_Asp201=	coding	Benign/Likely_benign
X	41665397	G	C	G41665397C	CASK	NM_001367721.1(CASK):c.588C>G:p.Tyr196Ter	coding	Pathogenic
X	41671088	C	T	C41671088T	CASK	NM_001367721.1(CASK):c.532+340G>A	noncoding	Benign
X	41671548	C	T	C41671548T	CASK	NM_001367721.1(CASK):c.430-18G>A	noncoding	Benign/Likely_benign
X	41739364	A	T	A41739364T	CASK	NM_001367721.1(CASK):c.429+20T>A	noncoding	Benign
X	41739762	T	G	T41739762G	CASK	NM_001367721.1(CASK):c.357-306A>C	noncoding	Benign
X	41786902	G	T	G41786902T	CASK	NM_001367721.1(CASK):c.278+276C>A	noncoding	Benign
X	41787261	G	A	G41787261A	CASK	NM_001367721.1(CASK):c.195C>T:p.Ile65_Cys66=	coding	Benign/Likely_benign
X	41853247	T	C	T41853247C	CASK	NM_001367721.1(CASK):c.60-20A>G	noncoding	Benign
X	43693444	C	A	C43693444A	MAOA	NM_000240.4(MAOA):c.306+16C>A	noncoding	Benign
X	43741937	C	T	C43741937T	MAOA	NM_000240.4(MAOA):c.1165-13C>T	noncoding	Benign
X	43743924	G	A	G43743924A	MAOA	NM_000240.4(MAOA):c.1374+19G>A	noncoding	Benign
X	43949840	G	A	G43949840A	NDP	NM_000266.4(NDP):c.361C>T:p.Arg121Trp	coding	Pathogenic/Likely_pathogenic
X	43950005	C	A	C43950005A	NDP	NM_000266.4(NDP):c.196G>T:p.Glu66Ter	coding	Pathogenic
X	43958430	T	C	T43958430C	NDP	NM_000266.4(NDP):c.174+42A>G	noncoding	Benign
X	43958481	A	G	A43958481G	NDP	NM_000266.4(NDP):c.165T>C:p.Cys55=	coding	Benign
X	43958521	T	C	T43958521C	NDP	NM_000266.4(NDP):c.125A>G:p.His42Arg	coding	Pathogenic/Likely_pathogenic
X	43958588	C	A	C43958588A	NDP	NM_000266.4(NDP):c.58G>T:p.Gly20Ter	coding	Pathogenic
X	43958756	C	A	C43958756A	NDP	NM_000266.4(NDP):c.-111G>T	noncoding	Benign
X	43973098	G	C	G43973098C	NDP	NM_000266.4(NDP):c.-208+206C>G	noncoding	Benign
X	43973680	T	A	T43973680A	NDP	Single_allele	noncoding	Benign
X	44872897	A	C	A44872897C	KDM6A	Single_allele	noncoding	Benign
X	44873502	C	G	C44873502G	KDM6A	NM_001291415.2(KDM6A):c.-50C>G	noncoding	Benign
X	44873890	A	T	A44873890T	KDM6A	NM_001291415.2(KDM6A):c.162-34A>T	noncoding	Benign
X	44873963	C	T	C44873963T	KDM6A	NM_001291415.2(KDM6A):c.201C>T:p.Ala67=	coding	Benign
X	44874009	G	A	G44874009A	KDM6A	NM_001291415.2(KDM6A):c.225+22G>A	noncoding	Benign
X	44874017	A	C	A44874017C	KDM6A	NM_001291415.2(KDM6A):c.225+30A>C	noncoding	Benign
X	44874083	A	G	A44874083G	KDM6A	NM_001291415.2(KDM6A):c.225+96A>G	noncoding	Benign
X	44961058	A	G	A44961058G	KDM6A	NM_001291415.2(KDM6A):c.226-226A>G	noncoding	Benign
X	44961422	A	T	A44961422T	KDM6A	NM_001291415.2(KDM6A):c.334+30A>T	noncoding	Benign
X	44974581	T	C	T44974581C	KDM6A	NM_001291415.2(KDM6A):c.335-85T>C	noncoding	Benign
X	44974596	C	A	C44974596A	KDM6A	NM_001291415.2(KDM6A):c.335-70C>A	noncoding	Benign
X	44974679	C	A	C44974679A	KDM6A	NM_001291415.2(KDM6A):c.348C>A:p.Tyr116Ter	coding	Pathogenic
X	45011292	T	C	T45011292C	KDM6A	NM_001291415.2(KDM6A):c.443+273T>C	noncoding	Benign
X	45020774	G	T	G45020774T	KDM6A	NM_001291415.2(KDM6A):c.564+44G>T	noncoding	Benign
X	45034930	G	A	G45034930A	KDM6A	NM_001291415.2(KDM6A):c.565-1G>A	noncoding	Pathogenic
X	45035015	A	G	A45035015G	KDM6A	NM_001291415.2(KDM6A):c.619+30A>G	noncoding	Benign
X	45037602	C	T	C45037602T	KDM6A	NM_001291415.2(KDM6A):c.620-53C>T	noncoding	Benign
X	45037616	A	G	A45037616G	KDM6A	NM_001291415.2(KDM6A):c.620-39A>G	noncoding	Benign
X	45037618	T	C	T45037618C	KDM6A	NM_001291415.2(KDM6A):c.620-37T>C	noncoding	Benign
X	45037707	T	C	T45037707C	KDM6A	NM_001291415.2(KDM6A):c.654+18T>C	noncoding	Benign
X	45051686	A	G	A45051686G	KDM6A	NM_001291415.2(KDM6A):c.655-23A>G	noncoding	Benign
X	45051693	T	C	T45051693C	KDM6A	NM_001291415.2(KDM6A):c.655-16T>C	noncoding	Benign
X	45051717	T	C	T45051717C	KDM6A	NM_001291415.2(KDM6A):c.663T>C:p.Tyr221=	coding	Benign
X	45053519	G	A	G45053519A	KDM6A	NM_001291415.2(KDM6A):c.749-310G>A	noncoding	Benign
X	45053542	T	C	T45053542C	KDM6A	NM_001291415.2(KDM6A):c.749-287T>C	noncoding	Benign
X	45053807	T	A	T45053807A	KDM6A	NM_001291415.2(KDM6A):c.749-22T>A	noncoding	Benign
X	45053812	T	A	T45053812A	KDM6A	NM_001291415.2(KDM6A):c.749-17T>A	noncoding	Benign
X	45053827	A	G	A45053827G	KDM6A	NM_001291415.2(KDM6A):c.749-2A>G	noncoding	Pathogenic
X	45053996	C	G	C45053996G	KDM6A	NM_001291415.2(KDM6A):c.875+41C>G	noncoding	Benign
X	45058866	T	C	T45058866C	KDM6A	NM_001291415.2(KDM6A):c.876-140T>C	noncoding	Benign
X	45059048	T	C	T45059048C	KDM6A	NM_001291415.2(KDM6A):c.918T>C:p.Ser306=	coding	Benign
X	45059449	C	T	C45059449T	KDM6A	NM_001291415.2(KDM6A):c.1177C>T:p.Arg393Ter	coding	Pathogenic
X	45059483	G	A	G45059483A	KDM6A	NM_001291415.2(KDM6A):c.1194+17G>A	noncoding	Benign
X	45060756	C	A	C45060756A	KDM6A	NM_001291415.2(KDM6A):c.1477C>A:p.Pro493Thr	coding	Benign
X	45060823	A	G	A45060823G	KDM6A	NM_001291415.2(KDM6A):c.1485+59A>G	noncoding	Benign
X	45061441	A	G	A45061441G	KDM6A	NM_001291415.2(KDM6A):c.1581+22A>G	noncoding	Benign
X	45061546	T	C	T45061546C	KDM6A	NM_001291415.2(KDM6A):c.1581+127T>C	noncoding	Benign
X	45061702	G	A	G45061702A	KDM6A	NM_001291415.2(KDM6A):c.1581+283G>A	noncoding	Benign
X	45062633	T	G	T45062633G	KDM6A	NM_001291415.2(KDM6A):c.1582-14T>G	noncoding	Benign
X	45062768	C	T	C45062768T	KDM6A	NM_001291415.2(KDM6A):c.1683+20C>T	noncoding	Benign
X	45063201	T	C	T45063201C	KDM6A	NM_001291415.2(KDM6A):c.1684-221T>C	noncoding	Benign
X	45063612	C	T	C45063612T	KDM6A	NM_001291415.2(KDM6A):c.1874C>T:p.Ser625Phe	coding	Benign/Likely_benign
X	45063686	A	G	A45063686G	KDM6A	NM_001291415.2(KDM6A):c.1948A>G:p.Ile650Val	coding	Benign
X	45069783	C	T	C45069783T	KDM6A	NM_001291415.2(KDM6A):c.2284C>T:p.Gln762Ter	coding	Pathogenic
X	45069828	T	C	T45069828C	KDM6A	NM_001291415.2(KDM6A):c.2329T>C:p.Leu777=	coding	Benign
X	45069845	A	G	A45069845G	KDM6A	NM_001291415.2(KDM6A):c.2346A>G:p.Thr782=	coding	Benign
X	45069920	G	A	G45069920A	KDM6A	NM_001291415.2(KDM6A):c.2421G>A:p.Thr807=	coding	Benign
X	45069986	T	A	T45069986A	KDM6A	NM_001291415.2(KDM6A):c.2487T>A:p.Asn829Lys	coding	Benign
X	45070136	A	G	A45070136G	KDM6A	NM_001291415.2(KDM6A):c.2637A>G:p.Thr879=	coding	Benign
X	45070298	C	A	C45070298A	KDM6A	NM_001291415.2(KDM6A):c.2799C>A:p.Ile933=	coding	Benign
X	45070358	G	A	G45070358A	KDM6A	NM_001291415.2(KDM6A):c.2858+1G>A	coding	Pathogenic
X	45070359	T	C	T45070359C	KDM6A	NM_001291415.2(KDM6A):c.2858+2T>C	noncoding	Pathogenic
X	45076680	T	C	T45076680C	KDM6A	NM_001291415.2(KDM6A):c.2859-17T>C	noncoding	Benign/Likely_benign
X	45076681	T	C	T45076681C	KDM6A	NM_001291415.2(KDM6A):c.2859-16T>C	noncoding	Benign
X	45076799	G	A	G45076799A	KDM6A	NM_001291415.2(KDM6A):c.2961G>A:p.Lys987=	coding	Benign
X	45078541	C	A	C45078541A	KDM6A	NM_001291415.2(KDM6A):c.3094+36C>A	noncoding	Benign
X	45079128	A	G	A45079128G	KDM6A	NM_001291415.2(KDM6A):c.3095-18A>G	noncoding	Benign/Likely_benign
X	45079346	T	C	T45079346C	KDM6A	NM_001291415.2(KDM6A):c.3295T>C:p.Leu1099=	coding	Benign
X	45079362	G	A	G45079362A	KDM6A	NM_001291415.2(KDM6A):c.3300+11G>A	noncoding	Benign
X	45079371	A	C	A45079371C	KDM6A	NM_001291415.2(KDM6A):c.3300+20A>C	noncoding	Benign
X	45082329	G	A	G45082329A	KDM6A	NM_001291415.2(KDM6A):c.3301-247G>A	noncoding	Benign
X	45082388	C	T	C45082388T	KDM6A	NM_001291415.2(KDM6A):c.3301-188C>T	noncoding	Benign
X	45082560	T	G	T45082560G	KDM6A	NM_001291415.2(KDM6A):c.3301-16T>G	noncoding	Benign
X	45082660	C	T	C45082660T	KDM6A	NM_001291415.2(KDM6A):c.3365+20C>T	noncoding	Benign
X	45082809	T	G	T45082809G	KDM6A	NM_001291415.2(KDM6A):c.3440+20T>G	noncoding	Benign
X	45085667	G	A	G45085667A	KDM6A	NM_001291415.2(KDM6A):c.3590-198G>A	noncoding	Benign
X	45086101	G	A	G45086101A	KDM6A	NM_001291415.2(KDM6A):c.3704+122G>A	noncoding	Benign
X	45089972	G	A	G45089972A	KDM6A	NM_001291415.2(KDM6A):c.3892+42G>A	noncoding	Benign
X	45090039	A	T	A45090039T	KDM6A	NM_001291415.2(KDM6A):c.3892+109A>T	noncoding	Benign
X	45090074	A	G	A45090074G	KDM6A	NM_001291415.2(KDM6A):c.3892+144A>G	noncoding	Benign
X	45090483	T	C	T45090483C	KDM6A	NM_001291415.2(KDM6A):c.3893-240T>C	noncoding	Benign
X	45090785	A	G	A45090785G	KDM6A	NM_001291415.2(KDM6A):c.3955A>G:p.Ile1319Val	coding	Benign
X	45090821	C	T	C45090821T	KDM6A	NM_001291415.2(KDM6A):c.3991C>T:p.Arg1331Ter	coding	Pathogenic/Likely_pathogenic
X	45091121	A	G	A45091121G	KDM6A	NM_001291415.2(KDM6A):c.4034+257A>G	noncoding	Benign
X	45111390	A	G	A45111390G	KDM6A	NM_001291415.2(KDM6A):c.4341A>G:p.Pro1447=	coding	Benign
X	45111446	G	C	G45111446C	KDM6A	NM_001291415.2(KDM6A):c.*35G>C	noncoding	Benign
X	46500505	G	T	G46500505T	ZNF674	NM_001190417.2(ZNF674):c.1069C>A:p.His357Asn	coding	Benign/Likely_benign
X	46607045	C	T	C46607045T	SLC9A7	NM_001257291.2(SLC9A7):c.2088G>A:p.Ser696=	coding	Benign
X	46613391	G	A	G46613391A	SLC9A7	NM_001257291.2(SLC9A7):c.1827C>T:p.Tyr609=	coding	Benign
X	46635638	C	T	C46635638T	SLC9A7	NM_001257291.2(SLC9A7):c.1627G>A:p.Glu543Lys	coding	Benign
X	46651397	T	C	T46651397C	SLC9A7	NM_001257291.2(SLC9A7):c.1155A>G:p.Val385=	coding	Benign
X	46653697	T	C	T46653697C	SLC9A7	NM_001257291.2(SLC9A7):c.1059A>G:p.Lys353=	coding	Benign
X	46662594	G	A	G46662594A	SLC9A7	NM_001257291.2(SLC9A7):c.843C>T:p.Tyr281=	coding	Benign
X	46758886	C	G	C46758886G	SLC9A7	NM_001257291.2(SLC9A7):c.144G>C:p.Ala48=	coding	Benign
X	46837101	A	G	A46837101G	RP2	NM_006915.3(RP2):c.1A>G:p.Met1Val	coding	Pathogenic
X	46837122	A	T	A46837122T	RP2	NM_006915.3(RP2):c.22A>T:p.Arg8Ter	coding	Pathogenic
X	46837158	G	T	G46837158T	RP2	NM_006915.3(RP2):c.58G>T:p.Glu20Ter	coding	Pathogenic
X	46837187	G	A	G46837187A	RP2	NM_006915.3(RP2):c.87G>A:p.Trp29Ter	coding	Pathogenic
X	46837191	C	T	C46837191T	RP2	NM_006915.3(RP2):c.91C>T:p.Gln31Ter	coding	Pathogenic
X	46853496	G	A	G46853496A	RP2	NM_006915.3(RP2):c.123G>A:p.Met41Ile	coding	Benign
X	46853548	G	T	G46853548T	RP2	NM_006915.3(RP2):c.175G>T:p.Gly59Ter	coding	Pathogenic
X	46853611	A	G	A46853611G	RP2	NM_006915.3(RP2):c.238A>G:p.Thr80Ala	coding	Benign
X	46853641	A	G	A46853641G	RP2	NM_006915.3(RP2):c.268A>G:p.Ile90Val	coding	Benign
X	46853823	G	A	G46853823A	RP2	NM_006915.3(RP2):c.450G>A:p.Trp150Ter	coding	Pathogenic
X	46853845	C	T	C46853845T	RP2	NM_006915.3(RP2):c.472C>T:p.Gln158Ter	coding	Pathogenic
X	46853930	G	A	G46853930A	RP2	NM_006915.3(RP2):c.557G>A:p.Trp186Ter	coding	Pathogenic
X	46854058	C	T	C46854058T	RP2	NM_006915.3(RP2):c.685C>T:p.Gln229Ter	coding	Pathogenic
X	46854069	C	T	C46854069T	RP2	NM_006915.3(RP2):c.696C>T:p.Ser232=	coding	Benign
X	46854073	G	T	G46854073T	RP2	NM_006915.3(RP2):c.700G>T:p.Glu234Ter	coding	Pathogenic
X	46854142	G	A	G46854142A	RP2	NM_006915.3(RP2):c.768+1G>A	coding	Pathogenic
X	46859997	A	T	A46859997T	RP2	NM_006915.3(RP2):c.778A>T:p.Lys260Ter	coding	Pathogenic
X	46860033	A	G	A46860033G	RP2	NM_006915.3(RP2):c.814A>G:p.Met272Val	coding	Benign/Likely_benign
X	46860048	G	A	G46860048A	RP2	NM_006915.3(RP2):c.829G>A:p.Ala277Thr	coding	Benign
X	46860051	C	T	C46860051T	RP2	NM_006915.3(RP2):c.832C>T:p.Gln278Ter	coding	Pathogenic
X	46877510	G	C	G46877510C	RP2	NM_006915.3(RP2):c.889G>C:p.Val297Leu	coding	Benign
X	46877562	T	C	T46877562C	RP2	NM_006915.3(RP2):c.941T>C:p.Ile314Thr	coding	Benign
X	46879666	T	A	T46879666A	RP2	NM_006915.3(RP2):c.970-20T>A	noncoding	Benign
X	46879712	G	A	G46879712A	RP2	NM_006915.3(RP2):c.996G>A:p.Thr332=	coding	Benign
X	47089882	C	G	C47089882G	RGN	NM_152869.4(RGN):c.453C>G:p.Asp151Glu	coding	Benign/Likely_benign
X	47142212	C	T	C47142212T	NDUFB11	Single_allele	noncoding	Benign
X	47142363	G	A	G47142363A	NDUFB11	NM_001135998.3(NDUFB11):c.416C>T:p.Ser139Phe	coding	Benign
X	47144464	G	C	G47144464C	NDUFB11	NM_001135998.3(NDUFB11):c.207+9C>G	noncoding	Benign/Likely_benign
X	47144469	T	C	T47144469C	NDUFB11	NM_001135998.3(NDUFB11):c.207+4A>G	noncoding	Benign
X	47145462	T	C	T47145462C	RBM10	NM_005676.5(RBM10):c.-149T>C	coding	Benign
X	47171118	C	T	C47171118T	RBM10	NM_005676.5(RBM10):c.292C>T:p.Arg98Ter	coding	Pathogenic
X	47171199	G	T	G47171199T	RBM10	NM_005676.5(RBM10):c.373G>T:p.Glu125Ter	coding	Pathogenic
X	47172839	C	T	C47172839T	RBM10	NM_005676.5(RBM10):c.433-289C>T	noncoding	Benign
X	47176233	G	A	G47176233A	RBM10	NM_005676.5(RBM10):c.577-267G>A	noncoding	Benign
X	47181979	C	G	C47181979G	RBM10	NM_005676.5(RBM10):c.1722C>G:p.Tyr574Ter	coding	Pathogenic
X	47182267	G	C	G47182267C	RBM10	NM_005676.5(RBM10):c.1891G>C:p.Ala631Pro	coding	Benign
X	47198545	A	G	A47198545G	UBA1	NM_003334.4(UBA1):c.1-258A>G	noncoding	Benign
X	47198896	G	A	G47198896A	UBA1	NM_003334.4(UBA1):c.94G>A:p.Glu32Lys	coding	Benign
X	47198935	G	A	G47198935A	UBA1	NM_003334.4(UBA1):c.117+16G>A	noncoding	Benign
X	47199047	G	C	G47199047C	UBA1	NM_003334.4(UBA1):c.118-1G>C	noncoding	Pathogenic
X	47199097	C	T	C47199097T	UBA1	NM_003334.4(UBA1):c.167C>T:p.Ser56Phe	coding	Pathogenic
X	47199119	A	G	A47199119G	UBA1	NM_003334.4(UBA1):c.176+13A>G	noncoding	Benign
X	47199285	G	A	G47199285A	UBA1	NM_003334.4(UBA1):c.253G>A:p.Val85Met	coding	Benign/Likely_benign
X	47199633	C	G	C47199633G	UBA1	NM_003334.4(UBA1):c.480+19C>G	noncoding	Benign/Likely_benign
X	47199885	C	G	C47199885G	UBA1	NM_003334.4(UBA1):c.480+271C>G	noncoding	Benign
X	47201384	A	T	A47201384T	UBA1	NM_003334.4(UBA1):c.678+18A>T	noncoding	Benign
X	47201462	C	T	C47201462T	UBA1	NM_003334.4(UBA1):c.679-16C>T	noncoding	Benign
X	47202152	G	A	G47202152A	UBA1	NM_003334.4(UBA1):c.812-4G>A	noncoding	Benign/Likely_benign
X	47202217	C	T	C47202217T	UBA1	NM_003334.4(UBA1):c.873C>T:p.Ile291=	coding	Benign/Likely_benign
X	47202678	A	C	A47202678C	UBA1	NM_003334.4(UBA1):c.1097A>C:p.Asn366Thr	coding	Benign
X	47202733	G	A	G47202733A	UBA1	NM_003334.4(UBA1):c.1152G>A:p.Arg384=	coding	Benign
X	47202827	G	A	G47202827A	UBA1	NM_003334.4(UBA1):c.1233+13G>A	noncoding	Benign/Likely_benign
X	47203125	A	G	A47203125G	UBA1	NM_003334.4(UBA1):c.1339-9A>G	noncoding	Benign
X	47203606	G	A	G47203606A	UBA1	NM_003334.4(UBA1):c.1485G>A:p.Gly495=	coding	Benign
X	47203747	C	T	C47203747T	UBA1	NM_003334.4(UBA1):c.1575+51C>T	noncoding	Benign
X	47205982	G	A	G47205982A	UBA1	NM_003334.4(UBA1):c.1610G>A:p.Arg537His	coding	Benign/Likely_benign
X	47206324	T	C	T47206324C	UBA1	NM_003334.4(UBA1):c.1818T>C:p.Asn606=	coding	Benign
X	47209699	G	A	G47209699A	UBA1	NM_003334.4(UBA1):c.2003+12G>A	noncoding	Benign/Likely_benign
X	47209915	C	T	C47209915T	UBA1	NM_003334.4(UBA1):c.2004-13C>T	noncoding	Benign/Likely_benign
X	47209916	G	A	G47209916A	UBA1	NM_003334.4(UBA1):c.2004-12G>A	noncoding	Benign/Likely_benign
X	47209977	T	C	T47209977C	UBA1	NM_003334.4(UBA1):c.2053T>C:p.Leu685=	coding	Benign
X	47210042	C	T	C47210042T	UBA1	NM_003334.4(UBA1):c.2118C>T:p.Cys706=	coding	Benign
X	47211210	G	A	G47211210A	UBA1	NM_003334.4(UBA1):c.2449G>A:p.Ala817Thr	coding	Benign
X	47211214	A	G	A47211214G	UBA1	NM_003334.4(UBA1):c.2453A>G:p.Asn818Ser	coding	Benign
X	47211221	T	C	T47211221C	UBA1	NM_003334.4(UBA1):c.2460T>C:p.Ser820=	coding	Benign
X	47212234	T	A	T47212234A	UBA1	NM_003334.4(UBA1):c.2465-190T>A	noncoding	Benign
X	47213067	G	A	G47213067A	UBA1	NM_003334.4(UBA1):c.2724G>A:p.Glu908=	coding	Benign
X	47213085	G	C	G47213085C	UBA1	NM_003334.4(UBA1):c.2742G>C:p.Gln914His	coding	Benign
X	47213136	G	T	G47213136T	UBA1	NM_003334.4(UBA1):c.2793G>T:p.Leu931=	coding	Benign
X	47214401	C	T	C47214401T	UBA1	NM_003334.4(UBA1):c.2913C>T:p.Thr971=	coding	Benign
X	47214523	C	T	C47214523T	UBA1	NM_003334.4(UBA1):c.2941-14C>T	noncoding	Benign/Likely_benign
X	47467417	G	A	G47467417A	ZNF41	NM_001324144.2(ZNF41):c.65C>T:p.Ser22Leu	coding	Benign
X	47574529	C	T	C47574529T	SYN1	NM_006950.3(SYN1):c.1455G>A:p.Pro485=	coding	Benign/Likely_benign
X	47574540	G	A	G47574540A	SYN1	NM_006950.3(SYN1):c.1444C>T:p.Gln482Ter	coding	Pathogenic
X	47576388	C	A	C47576388A	SYN1	NM_006950.3(SYN1):c.999G>T:p.Gly333=	coding	Benign
X	47576478	G	T	G47576478T	SYN1	NM_006950.3(SYN1):c.980+20C>A	noncoding	Benign
X	47585586	T	C	T47585586C	SYN1	NM_006950.3(SYN1):c.775-8085A>G	coding	Benign
X	47605052	G	A	G47605052A	SYN1	NM_006950.3(SYN1):c.700C>T:p.Arg234Ter	coding	Pathogenic
X	47605381	T	A	T47605381A	SYN1	NM_006950.3(SYN1):c.528-2A>T	noncoding	Pathogenic/Likely_pathogenic
X	47606944	C	A	C47606944A	SYN1	NM_006950.3(SYN1):c.527+1G>T	noncoding	Pathogenic
X	47619480	C	A	C47619480A	SYN1	NM_006950.3(SYN1):c.249G>T:p.Ala83=	coding	Benign/Likely_benign
X	47619493	G	C	G47619493C	SYN1	NM_006950.3(SYN1):c.236C>G:p.Ser79Trp	coding	Pathogenic
X	47624353	C	A	C47624353A	CFP	NM_001145252.3(CFP):c.1332G>T:p.Gly444=	coding	Benign
X	47626766	T	C	T47626766C	CFP	NM_001145252.3(CFP):c.940+7A>G	noncoding	Benign
X	47628093	C	T	C47628093T	CFP	NM_001145252.3(CFP):c.403+9G>A	noncoding	Benign
X	47628114	G	C	G47628114C	CFP	NM_001145252.3(CFP):c.391C>G:p.Gln131Glu	coding	Benign
X	47629616	G	A	G47629616A	CFP	NM_001145252.3(CFP):c.135C>T:p.Gly45=	coding	Benign
X	47629630	C	T	C47629630T	CFP	NM_001145252.3(CFP):c.121G>A:p.Gly41Ser	coding	Benign
X	47629663	C	T	C47629663T	CFP	NM_001145252.3(CFP):c.88G>A:p.Val30Met	coding	Benign
X	47639001	C	T	C47639001T	ELK1	NM_001114123.3(ELK1):c.548G>A:p.Ser183Asn	coding	Benign
X	47916185	C	A	C47916185A	ZNF81	NM_007137.5(ZNF81):c.1539C>A:p.Leu513=	coding	Benign
X	48478577	G	A	G48478577A	FTSJ1	NM_012280.4(FTSJ1):c.192-40G>A	noncoding	Benign
X	48478846	T	C	T48478846C	FTSJ1	NM_012280.4(FTSJ1):c.282+139T>C	noncoding	Benign
X	48480899	G	A	G48480899A	FTSJ1	NM_012280.4(FTSJ1):c.362-252G>A	noncoding	Benign
X	48481597	C	T	C48481597T	FTSJ1	NM_012280.4(FTSJ1):c.572-35C>T	noncoding	Benign
X	48481715	G	A	G48481715A	FTSJ1	NM_012280.4(FTSJ1):c.655G>A:p.Asp219Asn	coding	Pathogenic
X	48511205	T	C	T48511205C	PORCN	NM_203475.3(PORCN):c.137-90T>C	noncoding	Benign
X	48511581	G	A	G48511581A	PORCN	NM_203475.3(PORCN):c.329+94G>A	noncoding	Benign
X	48512085	G	A	G48512085A	PORCN	NM_203475.3(PORCN):c.373+150G>A	noncoding	Benign
X	48512324	A	G	A48512324G	PORCN	NM_203475.3(PORCN):c.374-2A>G	noncoding	Pathogenic
X	48512599	G	A	G48512599A	PORCN	NM_203475.3(PORCN):c.566G>A:p.Trp189Ter	coding	Pathogenic
X	48512716	G	A	G48512716A	PORCN	NM_203475.3(PORCN):c.683G>A:p.Arg228His	coding	Benign/Likely_benign
X	48512998	C	T	C48512998T	PORCN	NM_203475.3(PORCN):c.704+146C>T	noncoding	Benign
X	48514212	C	T	C48514212T	PORCN	NM_203475.3(PORCN):c.720-28C>T	noncoding	Benign
X	48514247	C	T	C48514247T	PORCN	NM_203475.3(PORCN):c.727C>T:p.Arg243Ter	coding	Pathogenic
X	48514307	G	A	G48514307A	PORCN	NM_203475.3(PORCN):c.787G>A:p.Glu263Lys	coding	Pathogenic
X	48514614	G	A	G48514614A	PORCN	NM_203475.3(PORCN):c.935G>A:p.Trp312Ter	coding	Pathogenic
X	48514842	A	T	A48514842T	PORCN	NM_203475.3(PORCN):c.946+217A>T	noncoding	Benign
X	48515753	C	A	C48515753A	PORCN	NM_203475.3(PORCN):c.983C>A:p.Ser328Ter	coding	Pathogenic
X	48516067	G	A	G48516067A	PORCN	NM_203475.3(PORCN):c.1094G>A:p.Arg365Gln	coding	Pathogenic
X	48516892	G	A	G48516892A	PORCN	NM_203475.3(PORCN):c.1174-291G>A	noncoding	Benign
X	48517195	C	T	C48517195T	PORCN	NM_203475.3(PORCN):c.1186C>T:p.Arg396Ter	coding	Pathogenic/Likely_pathogenic
X	48517325	C	A	C48517325A	PORCN	NM_203475.3(PORCN):c.1284+32C>A	noncoding	Benign
X	48523807	G	A	G48523807A	EBP	NM_006579.3(EBP):c.36G>A:p.Trp12Ter	coding	Pathogenic
X	48523925	C	T	C48523925T	EBP	NM_006579.3(EBP):c.154C>T:p.Arg52Cys	coding	Benign
X	48523955	C	T	C48523955T	EBP	NM_006579.3(EBP):c.184C>T:p.Arg62Trp	coding	Pathogenic/Likely_pathogenic
X	48523974	G	A	G48523974A	EBP	NM_006579.3(EBP):c.203G>A:p.Trp68Ter	coding	Pathogenic
X	48524060	T	C	T48524060C	EBP	NM_006579.3(EBP):c.289T>C:p.Leu97=	coding	Benign
X	48524064	C	T	C48524064T	EBP	NM_006579.3(EBP):c.293C>T:p.Ser98Phe	coding	Pathogenic
X	48524073	G	A	G48524073A	EBP	NM_006579.3(EBP):c.301+1G>A	coding	Pathogenic
X	48527203	G	A	G48527203A	EBP	NM_006579.3(EBP):c.387G>A:p.Trp129Ter	coding	Pathogenic
X	48527220	G	A	G48527220A	EBP	NM_006579.3(EBP):c.404G>A:p.Trp135Ter	coding	Pathogenic
X	48527261	A	G	A48527261G	EBP	NM_006579.3(EBP):c.445A>G:p.Ile149Val	coding	Benign/Likely_benign
X	48527285	G	A	G48527285A	EBP	NM_006579.3(EBP):c.469G>A:p.Gly157Ser	coding	Pathogenic
X	48527294	A	G	A48527294G	EBP	NM_006579.3(EBP):c.469+9A>G	noncoding	Benign
X	48528180	C	T	C48528180T	EBP	NM_006579.3(EBP):c.470-54C>T	noncoding	Benign
X	48528276	G	A	G48528276A	EBP	NM_006579.3(EBP):c.512G>A:p.Arg171His	coding	Benign/Likely_benign
X	48528414	C	T	C48528414T	EBP	NM_006579.3(EBP):c.650C>T:p.Thr217Met	coding	Benign/Likely_benign
X	48683512	T	C	T48683512C	WAS	Single_allele	noncoding	Benign
X	48684265	C	T	C48684265T	WAS	NM_000377.3(WAS):c.133-18C>T	noncoding	Benign
X	48684340	T	C	T48684340C	WAS	NM_000377.3(WAS):c.190T>C:p.Trp64Arg	coding	Pathogenic
X	48684342	G	A	G48684342A	WAS	NM_000377.3(WAS):c.192G>A:p.Trp64Ter	coding	Pathogenic
X	48684399	C	T	C48684399T	WAS	NM_000377.3(WAS):c.249C>T:p.Tyr83=	coding	Benign
X	48684437	C	T	C48684437T	WAS	NM_000377.3(WAS):c.273+14C>T	noncoding	Benign
X	48685568	C	T	C48685568T	WAS	NM_000377.3(WAS):c.295C>T:p.Gln99Ter	coding	Pathogenic
X	48685600	C	G	C48685600G	WAS	NM_000377.3(WAS):c.327C>G:p.Thr109=	coding	Benign
X	48685755	T	C	T48685755C	WAS	NM_000377.3(WAS):c.382T>C:p.Phe128Leu	coding	Pathogenic
X	48685850	A	C	A48685850C	WAS	NM_000377.3(WAS):c.463+14A>C	noncoding	Benign
X	48685935	T	G	T48685935G	WAS	NM_000377.3(WAS):c.464-11T>G	noncoding	Pathogenic
X	48686137	G	A	G48686137A	WAS	NM_000377.3(WAS):c.559+3G>A	noncoding	Benign
X	48686261	A	G	A48686261G	WAS	NM_000377.3(WAS):c.559+127A>G	noncoding	Benign
X	48686917	G	A	G48686917A	WAS	NM_000377.3(WAS):c.696G>A:p.Lys232=	coding	Benign
X	48686945	A	T	A48686945T	WAS	NM_000377.3(WAS):c.724A>T:p.Ser242Cys	coding	Benign/Likely_benign
X	48688434	G	A	G48688434A	WAS	NM_000377.3(WAS):c.912G>A:p.Arg304=	coding	Benign
X	48688473	C	A	C48688473A	WAS	NM_000377.3(WAS):c.931+20C>A	noncoding	Benign
X	48688669	C	T	C48688669T	WAS	NM_000377.3(WAS):c.941C>T:p.Pro314Leu	coding	Benign
X	48688727	G	A	G48688727A	WAS	NM_000377.3(WAS):c.999G>A:p.Gly333=	coding	Benign
X	48689302	G	A	G48689302A	WAS	NM_000377.3(WAS):c.1339-18G>A	noncoding	Benign
X	48689436	T	G	T48689436G	WAS	NM_000377.3(WAS):c.1453+2T>G	noncoding	Pathogenic
X	48689450	C	T	C48689450T	WAS	NM_000377.3(WAS):c.1453+16C>T	noncoding	Benign/Likely_benign
X	48791112	G	T	G48791112T	GATA1	NM_002049.4(GATA1):c.3G>T:p.Met1Ile	coding	Pathogenic
X	48791267	C	A	C48791267A	GATA1	NM_002049.4(GATA1):c.158C>A:p.Ala53Asp	coding	Benign
X	48791282	C	T	C48791282T	GATA1	NM_002049.4(GATA1):c.173C>T:p.Ala58Val	coding	Benign
X	48791283	G	A	G48791283A	GATA1	NM_002049.4(GATA1):c.174G>A:p.Ala58=	coding	Benign/Likely_benign
X	48791328	A	G	A48791328G	GATA1	NM_002049.4(GATA1):c.219A>G:p.Pro73=	coding	Pathogenic
X	48791918	G	A	G48791918A	GATA1	NM_002049.4(GATA1):c.295G>A:p.Gly99Ser	coding	Benign
X	48792217	C	A	C48792217A	GATA1	NM_002049.4(GATA1):c.594C>A:p.Pro198=	coding	Benign
X	48792224	G	A	G48792224A	GATA1	NM_002049.4(GATA1):c.598+3G>A	noncoding	Benign
X	48792314	C	T	C48792314T	GATA1	NM_002049.4(GATA1):c.599-9C>T	noncoding	Benign
X	48792324	G	A	G48792324A	GATA1	NM_002049.4(GATA1):c.600G>A:p.Glu200=	coding	Benign
X	48792377	A	G	A48792377G	GATA1	NM_002049.4(GATA1):c.653A>G:p.Asp218Gly	coding	Pathogenic/Likely_pathogenic
X	48792387	C	G	C48792387G	GATA1	NM_002049.4(GATA1):c.663C>G:p.Gly221=	coding	Benign
X	48792402	C	T	C48792402T	GATA1	NM_002049.4(GATA1):c.678C>T:p.Asn226=	coding	Benign
X	48793292	C	T	C48793292T	GATA1	NM_002049.4(GATA1):c.865C>T:p.His289Tyr	coding	Pathogenic
X	48793989	G	A	G48793989A	GATA1	NM_002049.4(GATA1):c.1067G>A:p.Gly356Asp	coding	Benign
X	48794079	T	C	T48794079C	GATA1	NM_002049.4(GATA1):c.1157T>C:p.Leu386Pro	coding	Benign
X	48794092	C	G	C48794092G	GATA1	NM_002049.4(GATA1):c.1170C>G:p.Pro390=	coding	Benign
X	48794098	C	G	C48794098G	GATA1	NM_002049.4(GATA1):c.1176C>G:p.Gly392=	coding	Benign
X	48794130	C	T	C48794130T	GATA1	NM_002049.4(GATA1):c.1208C>T:p.Thr403Ile	coding	Benign
X	48794152	G	A	G48794152A	GATA1	NM_002049.4(GATA1):c.1230G>A:p.Pro410=	coding	Benign
X	48818432	G	A	G48818432A	HDAC6	NM_006044.4(HDAC6):c.2187+20G>A	noncoding	Benign
X	48823185	T	C	T48823185C	HDAC6	NM_006044.4(HDAC6):c.2786T>C:p.Ile929Thr	coding	Benign/Likely_benign
X	48898097	G	A	G48898097A	PQBP1	NM_001032382.2(PQBP1):c.-19+15G>A	noncoding	Benign
X	48898654	T	A	T48898654A	PQBP1	NM_001032382.2(PQBP1):c.67+78T>A	noncoding	Benign
X	48902043	G	A	G48902043A	PQBP1	NM_001032382.2(PQBP1):c.292+1G>A	coding	Pathogenic/Likely_pathogenic
X	48903516	C	T	C48903516T	SLC35A2	NM_005660.3(SLC35A2):c.1164-51G>A	noncoding	Benign
X	48904764	G	A	G48904764A	SLC35A2	NM_005660.3(SLC35A2):c.1145C>T:p.Thr382Met	coding	Benign
X	48904780	G	A	G48904780A	SLC35A2	NM_005660.3(SLC35A2):c.1129C>T:p.Arg377Cys	coding	Benign
X	48904797	G	A	G48904797A	SLC35A2	NM_005660.3(SLC35A2):c.1112C>T:p.Pro371Leu	coding	Benign
X	48904799	T	C	T48904799C	SLC35A2	NM_005660.3(SLC35A2):c.1110A>G:p.Pro370=	coding	Benign
X	48904840	C	T	C48904840T	SLC35A2	NM_005660.3(SLC35A2):c.1069G>A:p.Gly357Arg	coding	Benign
X	48904884	C	T	C48904884T	SLC35A2	NM_005660.3(SLC35A2):c.1025G>A:p.Arg342Gln	coding	Benign
X	48904894	T	C	T48904894C	SLC35A2	NM_005660.3(SLC35A2):c.1015A>G:p.Ser339Gly	coding	Benign
X	48904918	C	T	C48904918T	SLC35A2	NM_005660.3(SLC35A2):c.991G>A:p.Val331Ile	coding	Pathogenic
X	48904968	C	T	C48904968T	SLC35A2	NM_005660.3(SLC35A2):c.941G>A:p.Arg314His	coding	Benign
X	48905090	G	A	G48905090A	SLC35A2	NM_005660.3(SLC35A2):c.819C>T:p.Gly273=	coding	Benign
X	48905299	C	T	C48905299T	SLC35A2	NM_005660.3(SLC35A2):c.610G>A:p.Ala204Thr	coding	Benign
X	48906391	C	T	C48906391T	SLC35A2	NM_005660.3(SLC35A2):c.426+1G>A	noncoding	Pathogenic
X	48906433	G	A	G48906433A	SLC35A2	NM_005660.3(SLC35A2):c.385C>T:p.Gln129Ter	coding	Pathogenic
X	48906473	G	A	G48906473A	SLC35A2	NM_005660.3(SLC35A2):c.345C>T:p.Leu115=	coding	Benign
X	48906478	T	A	T48906478A	SLC35A2	NM_005660.3(SLC35A2):c.340A>T:p.Lys114Ter	coding	Pathogenic
X	48906491	A	C	A48906491C	SLC35A2	NM_005660.3(SLC35A2):c.327T>G:p.Tyr109Ter	coding	Pathogenic
X	48906539	G	A	G48906539A	SLC35A2	NM_005660.3(SLC35A2):c.279C>T:p.Asn93=	coding	Benign
X	48909825	G	A	G48909825A	SLC35A2	NM_005660.3(SLC35A2):c.263C>T:p.Ala88Val	coding	Benign
X	48909952	G	A	G48909952A	SLC35A2	NM_005660.3(SLC35A2):c.136C>T:p.Gln46Ter	coding	Pathogenic
X	48909976	T	G	T48909976G	SLC35A2	NM_005660.3(SLC35A2):c.112A>C:p.Ile38Leu	coding	Benign
X	48910007	C	T	C48910007T	SLC35A2	NM_005660.3(SLC35A2):c.92-11G>A	noncoding	Benign
X	48911547	C	G	C48911547G	SLC35A2	NM_005660.3(SLC35A2):c.90G>C:p.Ala30=	coding	Benign/Likely_benign
X	48911563	G	A	G48911563A	SLC35A2	NM_005660.3(SLC35A2):c.74C>T:p.Pro25Leu	coding	Benign
X	48911607	G	C	G48911607C	SLC35A2	NM_005660.3(SLC35A2):c.30C>G:p.Thr10=	coding	Benign/Likely_benign
X	48911629	G	A	G48911629A	SLC35A2	NM_005660.3(SLC35A2):c.8C>T:p.Ala3Val	coding	Benign
X	48911636	T	A	T48911636A	SLC35A2	NM_005660.3(SLC35A2):c.1A>T:p.Met1Leu	coding	Pathogenic
X	48911636	T	C	T48911636C	SLC35A2	NM_005660.3(SLC35A2):c.1A>G:p.Met1Val	coding	Pathogenic/Likely_pathogenic
X	48911826	A	C	A48911826C	SLC35A2	NM_005660.2(SLC35A2):c.-190T>G	coding	Benign
X	48923735	G	A	G48923735A	OTUD5	NM_001136157.2(OTUD5):c.1477C>T:p.Gln493Ter	coding	Pathogenic
X	48923851	C	T	C48923851T	OTUD5	NM_001136157.2(OTUD5):c.1465G>A:p.Gly489Ser	coding	Pathogenic
X	48925915	G	A	G48925915A	OTUD5	NM_001136157.2(OTUD5):c.1195C>T:p.Arg399Trp	coding	Pathogenic
X	48934483	A	G	A48934483G	OTUD5	NM_001136157.2(OTUD5):c.1040T>C:p.Leu347Pro	coding	Pathogenic
X	48934801	G	A	G48934801A	OTUD5	NM_001136157.2(OTUD5):c.820C>T:p.Arg274Trp	coding	Pathogenic
X	48944280	C	T	C48944280T	OTUD5	NM_001136157.2(OTUD5):c.598G>A:p.Glu200Lys	coding	Pathogenic
X	49038196	C	T	C49038196T	TFE3	NM_006521.6(TFE3):c.780+1G>A	noncoding	Pathogenic
X	49038375	T	G	T49038375G	TFE3	NM_006521.6(TFE3):c.602A>C:p.Gln201Pro	coding	Pathogenic
X	49038418	T	C	T49038418C	TFE3	NM_006521.6(TFE3):c.559A>G:p.Thr187Ala	coding	Pathogenic
X	49039285	T	G	T49039285G	TFE3	NM_006521.6(TFE3):c.356A>C:p.Gln119Pro	coding	Pathogenic
X	49039291	C	T	C49039291T	TFE3	NM_006521.6(TFE3):c.350G>A:p.Arg117Gln	coding	Pathogenic
X	49039292	G	A	G49039292A	TFE3	NM_006521.6(TFE3):c.349C>T:p.Arg117Trp	coding	Pathogenic
X	49043201	C	G	C49043201G	TFE3	NM_006521.6(TFE3):c.26G>C:p.Arg9Pro	coding	Benign/Likely_benign
X	49074905	G	A	G49074905A	WDR45	NM_001029896.2(WDR45):c.981C>T:p.Cys327=	coding	Benign
X	49074916	G	T	G49074916T	WDR45	NM_001029896.2(WDR45):c.974-4C>A	noncoding	Benign/Likely_benign
X	49075366	G	A	G49075366A	WDR45	NM_001029896.2(WDR45):c.825C>T:p.Ser275=	coding	Benign/Likely_benign
X	49075406	T	G	T49075406G	WDR45	NM_001029896.2(WDR45):c.785A>C:p.His262Pro	coding	Pathogenic
X	49075704	T	C	T49075704C	WDR45	NM_001029896.2(WDR45):c.566A>G:p.Asn189Ser	coding	Benign/Likely_benign
X	49075706	G	A	G49075706A	WDR45	NM_001029896.2(WDR45):c.564C>T:p.Ile188=	coding	Benign/Likely_benign
X	49075882	C	T	C49075882T	WDR45	NM_001029896.2(WDR45):c.500G>A:p.Gly167Glu	coding	Pathogenic/Likely_pathogenic
X	49076231	C	G	C49076231G	WDR45	NM_001029896.2(WDR45):c.436+199G>C	noncoding	Benign
X	49076289	G	C	G49076289C	WDR45	NM_001029896.2(WDR45):c.436+141C>G	noncoding	Benign
X	49076420	G	A	G49076420A	WDR45	NM_001029896.2(WDR45):c.436+10C>T	noncoding	Benign
X	49076423	C	T	C49076423T	WDR45	NM_001029896.2(WDR45):c.436+7G>A	noncoding	Benign
X	49076428	A	G	A49076428G	WDR45	NM_001029896.2(WDR45):c.436+2T>C	noncoding	Pathogenic
X	49076736	C	T	C49076736T	WDR45	NM_001029896.2(WDR45):c.250G>A:p.Asp84Asn	coding	Benign/Likely_benign
X	49076737	G	A	G49076737A	WDR45	NM_001029896.2(WDR45):c.249C>T:p.Asp83=	coding	Benign
X	49076768	G	A	G49076768A	WDR45	NM_001029896.2(WDR45):c.236-18C>T	noncoding	Benign/Likely_benign
X	49077652	C	A	C49077652A	WDR45	NM_001029896.2(WDR45):c.226G>T:p.Glu76Ter	coding	Pathogenic
X	49077755	G	T	G49077755T	WDR45	NM_001029896.2(WDR45):c.131-8C>A	noncoding	Benign
X	49077794	C	T	C49077794T	WDR45	NM_001029896.2(WDR45):c.130+43G>A	noncoding	Benign
X	49077836	C	G	C49077836G	WDR45	NM_001029896.2(WDR45):c.130+1G>C	noncoding	Pathogenic
X	49077867	C	T	C49077867T	WDR45	NM_001029896.2(WDR45):c.100G>A:p.Val34Met	coding	Benign/Likely_benign
X	49078058	C	T	C49078058T	WDR45	NM_001029896.2(WDR45):c.38G>A:p.Arg13His	coding	Benign/Likely_benign
X	49078158	C	T	C49078158T	WDR45	NM_001029896.2(WDR45):c.-17-46G>A	noncoding	Benign
X	49194192	G	A	G49194192A	SYP	NM_003179.3(SYP):c.397C>T:p.Arg133Ter	coding	Pathogenic
X	49205192	G	A	G49205192A	CACNA1F	NM_001256789.3(CACNA1F):c.5846C>T:p.Ser1949Phe	coding	Benign
X	49205275	C	T	C49205275T	CACNA1F	NM_001256789.3(CACNA1F):c.5763G>A:p.Thr1921=	coding	Benign
X	49205547	G	A	G49205547A	CACNA1F	NM_001256789.3(CACNA1F):c.5670+69C>T	noncoding	Benign
X	49205745	G	A	G49205745A	CACNA1F	NM_001256789.3(CACNA1F):c.5541C>T:p.Gly1847=	coding	Benign
X	49206537	G	A	G49206537A	CACNA1F	NM_001256789.3(CACNA1F):c.5446C>T:p.Arg1816Ter	coding	Pathogenic
X	49209679	T	A	T49209679A	CACNA1F	NM_001256789.3(CACNA1F):c.4771A>T:p.Lys1591Ter	coding	Pathogenic
X	49209779	G	A	G49209779A	CACNA1F	NM_001256789.3(CACNA1F):c.4691-20C>T	noncoding	Benign
X	49210403	T	A	T49210403A	CACNA1F	NM_001256789.3(CACNA1F):c.4486A>T:p.Arg1496Ter	coding	Pathogenic
X	49211321	C	T	C49211321T	CACNA1F	NM_001256789.3(CACNA1F):c.4260+1G>A	noncoding	Pathogenic
X	49211767	C	G	C49211767G	CACNA1F	NM_001256789.3(CACNA1F):c.4100+131G>C	noncoding	Benign
X	49213870	G	A	G49213870A	CACNA1F	NM_001256789.3(CACNA1F):c.3741C>T:p.Asp1247=	coding	Benign
X	49214152	G	A	G49214152A	CACNA1F	NM_001256789.3(CACNA1F):c.3708+7C>T	noncoding	Benign
X	49214955	A	G	A49214955G	CACNA1F	NM_001256789.3(CACNA1F):c.3597+131T>C	noncoding	Benign
X	49215042	A	C	A49215042C	CACNA1F	NM_001256789.3(CACNA1F):c.3597+44T>G	noncoding	Benign
X	49215262	G	A	G49215262A	CACNA1F	NM_001256789.3(CACNA1F):c.3439-18C>T	noncoding	Benign/Likely_benign
X	49215559	G	A	G49215559A	CACNA1F	NM_001256789.3(CACNA1F):c.3237-16C>T	noncoding	Benign
X	49215559	G	C	G49215559C	CACNA1F	NM_001256789.3(CACNA1F):c.3237-16C>G	noncoding	Benign
X	49215614	C	G	C49215614G	CACNA1F	NM_001256789.3(CACNA1F):c.3237-71G>C	noncoding	Benign
X	49216327	A	G	A49216327G	CACNA1F	NM_001256789.3(CACNA1F):c.3236+55T>C	noncoding	Benign
X	49217837	C	T	C49217837T	CACNA1F	NM_001256789.3(CACNA1F):c.3037-30G>A	noncoding	Benign
X	49217915	C	T	C49217915T	CACNA1F	NM_001256789.3(CACNA1F):c.3019G>A:p.Gly1007Arg	coding	Pathogenic/Likely_pathogenic
X	49218177	G	A	G49218177A	CACNA1F	NM_001256789.3(CACNA1F):c.2929-172C>T	noncoding	Benign
X	49218450	G	A	G49218450A	CACNA1F	NM_001256789.3(CACNA1F):c.2928+5C>T	noncoding	Benign
X	49218454	C	T	C49218454T	CACNA1F	NM_001256789.3(CACNA1F):c.2928+1G>A	noncoding	Pathogenic
X	49218484	G	A	G49218484A	CACNA1F	NM_001256789.3(CACNA1F):c.2899C>T:p.Arg967Ter	coding	Pathogenic
X	49218867	G	A	G49218867A	CACNA1F	NM_001256789.3(CACNA1F):c.2733+15C>T	noncoding	Benign
X	49218961	G	A	G49218961A	CACNA1F	NM_001256789.3(CACNA1F):c.2674-20C>T	noncoding	Benign
X	49219359	C	T	C49219359T	CACNA1F	NM_001256789.3(CACNA1F):c.2635G>A:p.Ala879Thr	coding	Benign
X	49219644	G	A	G49219644A	CACNA1F	NM_001256789.3(CACNA1F):c.2533C>T:p.Gln845Ter	coding	Pathogenic
X	49219761	C	A	C49219761A	CACNA1F	NM_001256789.3(CACNA1F):c.2416G>T:p.Glu806Ter	coding	Pathogenic
X	49220613	G	A	G49220613A	CACNA1F	NM_001256789.3(CACNA1F):c.2335-89C>T	noncoding	Benign
X	49220662	C	T	C49220662T	CACNA1F	NM_001256789.3(CACNA1F):c.2335-138G>A	noncoding	Benign
X	49220912	C	G	C49220912G	CACNA1F	NM_001256789.3(CACNA1F):c.2334+123G>C	noncoding	Benign
X	49224760	C	A	C49224760A	CACNA1F	NM_001256789.3(CACNA1F):c.1877+1G>T	noncoding	Pathogenic
X	49225668	T	C	T49225668C	CACNA1F	NM_001256789.3(CACNA1F):c.1651+241A>G	noncoding	Benign
X	49225901	G	C	G49225901C	CACNA1F	NM_001256789.3(CACNA1F):c.1651+8C>G	noncoding	Benign
X	49226437	C	T	C49226437T	CACNA1F	NM_001256789.3(CACNA1F):c.1435G>A:p.Gly479Arg	coding	Benign
X	49228079	C	T	C49228079T	CACNA1F	NM_001256789.3(CACNA1F):c.1075G>A:p.Gly359Arg	coding	Pathogenic/Likely_pathogenic
X	49228251	C	T	C49228251T	CACNA1F	NM_001256789.3(CACNA1F):c.1014G>A:p.Trp338Ter	coding	Pathogenic
X	49228380	G	A	G49228380A	CACNA1F	NM_001256789.3(CACNA1F):c.885C>T:p.Asn295=	coding	Benign
X	49230253	G	A	G49230253A	CACNA1F	NM_001256789.3(CACNA1F):c.784C>T:p.Arg262Ter	coding	Pathogenic
X	49230343	T	A	T49230343A	CACNA1F	NM_001256789.3(CACNA1F):c.694A>T:p.Lys232Ter	coding	Pathogenic
X	49230811	G	A	G49230811A	CACNA1F	NM_001256789.3(CACNA1F):c.521+39C>T	noncoding	Benign
X	49230975	G	C	G49230975C	CACNA1F	NM_001256789.3(CACNA1F):c.396C>G:p.Tyr132Ter	coding	Pathogenic
X	49231863	G	A	G49231863A	CACNA1F	NM_001256789.3(CACNA1F):c.90C>T:p.Pro30=	coding	Benign
X	49232100	G	C	G49232100C	CACNA1F	NM_001256789.3(CACNA1F):c.26-173C>G	noncoding	Benign
X	49232109	T	C	T49232109C	CACNA1F	NM_001256789.3(CACNA1F):c.26-182A>G	noncoding	Benign
X	49233276	T	C	T49233276C	CACNA1F	NM_001256789.3(CACNA1F):c.25+9A>G	coding	Benign
X	49251352	G	T	G49251352T	FOXP3	NM_014009.4(FOXP3):c.1278C>A:p.Asn426Lys	coding	Benign
X	49251408	C	T	C49251408T	FOXP3	NM_014009.4(FOXP3):c.1222G>A:p.Val408Met	coding	Pathogenic/Likely_pathogenic
X	49251409	G	A	G49251409A	FOXP3	NM_014009.4(FOXP3):c.1221C>T:p.Thr407=	coding	Benign
X	49251496	G	A	G49251496A	FOXP3	NM_014009.4(FOXP3):c.1147-13C>T	noncoding	Benign
X	49251776	G	C	G49251776C	FOXP3	NM_014009.4(FOXP3):c.1045-11C>G	noncoding	Benign
X	49253109	C	T	C49253109T	FOXP3	NM_014009.4(FOXP3):c.1044+17G>A	noncoding	Benign
X	49253130	C	T	C49253130T	FOXP3	NM_014009.4(FOXP3):c.1040G>A:p.Arg347His	coding	Pathogenic/Likely_pathogenic
X	49253155	G	C	G49253155C	FOXP3	NM_014009.4(FOXP3):c.1015C>G:p.Pro339Ala	coding	Pathogenic/Likely_pathogenic
X	49253925	G	T	G49253925T	FOXP3	NM_014009.4(FOXP3):c.959C>A:p.Thr320Lys	coding	Benign/Likely_benign
X	49254010	C	T	C49254010T	FOXP3	NM_014009.4(FOXP3):c.874G>A:p.Val292Ile	coding	Benign
X	49254011	G	A	G49254011A	FOXP3	NM_014009.4(FOXP3):c.873C>T:p.Val291=	coding	Benign
X	49254288	C	T	C49254288T	FOXP3	NM_014009.4(FOXP3):c.817-221G>A	noncoding	Benign
X	49255511	T	A	T49255511A	FOXP3	NM_014009.4(FOXP3):c.736-2A>T	noncoding	Pathogenic
X	49255523	C	T	C49255523T	FOXP3	NM_014009.4(FOXP3):c.736-14G>A	noncoding	Benign
X	49255701	C	T	C49255701T	FOXP3	NM_014009.4(FOXP3):c.735+14G>A	noncoding	Benign
X	49255756	A	C	A49255756C	FOXP3	NM_014009.4(FOXP3):c.694T>G:p.Cys232Gly	coding	Pathogenic
X	49255791	G	A	G49255791A	FOXP3	NM_014009.4(FOXP3):c.659C>T:p.Ala220Val	coding	Benign
X	49255815	A	T	A49255815T	FOXP3	NM_014009.4(FOXP3):c.648-13T>A	noncoding	Benign
X	49255822	C	T	C49255822T	FOXP3	NM_014009.4(FOXP3):c.648-20G>A	noncoding	Benign
X	49256773	C	T	C49256773T	FOXP3	NM_014009.4(FOXP3):c.625G>A:p.Glu209Lys	coding	Benign
X	49257217	G	T	G49257217T	FOXP3	NM_014009.4(FOXP3):c.455-205C>A	noncoding	Benign
X	49257529	G	C	G49257529C	FOXP3	NM_014009.4(FOXP3):c.352C>G:p.Leu118Val	coding	Benign
X	49257545	G	A	G49257545A	FOXP3	NM_014009.4(FOXP3):c.336C>T:p.His112=	coding	Benign
X	49257730	C	G	C49257730G	FOXP3	NM_014009.4(FOXP3):c.249G>C:p.Gly83=	coding	Benign
X	49257755	G	A	G49257755A	FOXP3	NM_014009.4(FOXP3):c.224C>T:p.Pro75Leu	coding	Pathogenic
X	49257842	C	T	C49257842T	FOXP3	NM_014009.4(FOXP3):c.211-74G>A	noncoding	Benign
X	49257999	T	C	T49257999C	FOXP3	NM_014009.4(FOXP3):c.211-231A>G	noncoding	Benign
X	49258280	G	A	G49258280A	FOXP3	NM_014009.4(FOXP3):c.210+16C>T	noncoding	Benign
X	49258306	G	A	G49258306A	FOXP3	NM_014009.4(FOXP3):c.200C>T:p.Ser67Leu	coding	Benign
X	49258390	C	T	C49258390T	FOXP3	NM_014009.4(FOXP3):c.116G>A:p.Arg39Gln	coding	Benign
X	49258447	G	A	G49258447A	FOXP3	NM_014009.4(FOXP3):c.59C>T:p.Pro20Leu	coding	Benign
X	49258504	A	T	A49258504T	FOXP3	NM_014009.4(FOXP3):c.2T>A:p.Met1Lys	coding	Pathogenic
X	49270193	C	T	C49270193T	PPP1R3F	NM_033215.5(PPP1R3F):c.324C>T:p.Pro108=	coding	Benign
X	50042407	C	T	C50042407T	CLCN5	NM_001127898.4(CLCN5):c.108C>T:p.Thr36=	coding	Benign
X	50069627	C	G	C50069627G	CLCN5	NM_001127898.4(CLCN5):c.164-252C>G	coding	Benign
X	50075643	A	G	A50075643G	CLCN5	NM_001127898.4(CLCN5):c.416-152A>G	noncoding	Benign
X	50076224	A	G	A50076224G	CLCN5	NM_001127898.4(CLCN5):c.603+242A>G	noncoding	Benign
X	50080592	A	G	A50080592G	CLCN5	NM_001127898.4(CLCN5):c.604-2A>G	noncoding	Pathogenic
X	50081849	T	C	T50081849C	CLCN5	NM_001127898.4(CLCN5):c.933+2T>C	noncoding	Pathogenic
X	50085987	C	T	C50085987T	CLCN5	NM_001127898.4(CLCN5):c.941C>T:p.Ser314Leu	coding	Pathogenic
X	50086022	G	C	G50086022C	CLCN5	NM_001127898.4(CLCN5):c.976G>C:p.Gly326Arg	coding	Pathogenic
X	50086061	G	C	G50086061C	CLCN5	NM_001127898.4(CLCN5):c.1014+1G>C	coding	Pathogenic
X	50086947	A	G	A50086947G	CLCN5	NM_001127898.4(CLCN5):c.1557+77A>G	noncoding	Benign
X	50090610	G	A	G50090610A	CLCN5	NM_001127898.4(CLCN5):c.2144-60G>A	noncoding	Benign
X	50091891	C	T	C50091891T	CLCN5	NM_001127898.4(CLCN5):c.2361-238C>T	noncoding	Benign
X	50091975	G	C	G50091975C	CLCN5	NM_001127898.4(CLCN5):c.2361-154G>C	noncoding	Benign
X	50092111	A	G	A50092111G	CLCN5	NM_001127898.4(CLCN5):c.2361-18A>G	noncoding	Benign
X	50602585	A	G	A50602585G	SHROOM4	NM_020717.5(SHROOM4):c.3942+48T>C	noncoding	Benign
X	50607757	T	G	T50607757G	SHROOM4	NM_020717.5(SHROOM4):c.3385A>C:p.Lys1129Gln	coding	Benign
X	50607758	C	T	C50607758T	SHROOM4	NM_020717.5(SHROOM4):c.3384G>A:p.Gln1128_Lys1129=	coding	Benign
X	50633252	G	A	G50633252A	SHROOM4	NM_020717.5(SHROOM4):c.2821C>T:p.Pro941Ser	coding	Benign
X	50633620	C	T	C50633620T	SHROOM4	NM_020717.5(SHROOM4):c.2453G>A:p.Cys818Tyr	coding	Benign
X	50634101	T	C	T50634101C	SHROOM4	NM_020717.5(SHROOM4):c.1972A>G:p.Met658Val	coding	Benign/Likely_benign
X	50634532	C	A	C50634532A	SHROOM4	NM_020717.5(SHROOM4):c.1541G>T:p.Arg514Ile	coding	Benign
X	50634785	C	A	C50634785A	SHROOM4	NM_020717.5(SHROOM4):c.1288G>T:p.Gly430Cys	coding	Benign
X	50635020	G	T	G50635020T	SHROOM4	NM_020717.5(SHROOM4):c.1053C>A:p.Ser351Arg	coding	Benign/Likely_benign
X	50635636	C	T	C50635636T	SHROOM4	NM_020717.5(SHROOM4):c.437G>A:p.Arg146Gln	coding	Benign
X	50915683	A	C	A50915683C	BMP15	NM_005448.2(BMP15):c.329-74A>C	noncoding	Benign
X	50915841	G	A	G50915841A	BMP15	NM_005448.2(BMP15):c.413G>A:p.Arg138His	coding	Pathogenic
X	50916045	G	A	G50916045A	BMP15	NM_005448.2(BMP15):c.617G>A:p.Arg206His	coding	Pathogenic
X	50916089	T	C	T50916089C	BMP15	NM_005448.2(BMP15):c.661T>C:p.Trp221Arg	coding	Pathogenic
X	50916155	A	G	A50916155G	BMP15	NM_005448.2(BMP15):c.727A>G:p.Ile243Val	coding	Pathogenic
X	53192868	T	C	T53192868C	KDM5C	NM_004187.5(KDM5C):c.*99A>G	coding	Benign
X	53192869	A	C	A53192869C	KDM5C	NM_004187.5(KDM5C):c.*98T>G	coding	Benign
X	53192924	C	T	C53192924T	KDM5C	NM_004187.5(KDM5C):c.*43G>A	coding	Benign
X	53193053	T	G	T53193053G	KDM5C	NM_004187.5(KDM5C):c.4597A>C:p.Thr1533Pro	coding	Benign/Likely_benign
X	53193063	C	T	C53193063T	KDM5C	NM_004187.5(KDM5C):c.4587G>A:p.Ala1529=	coding	Benign/Likely_benign
X	53193658	C	T	C53193658T	KDM5C	NM_004187.5(KDM5C):c.4118-22G>A	noncoding	Benign
X	53193764	T	C	T53193764C	KDM5C	NM_004187.5(KDM5C):c.4117+9A>G	noncoding	Benign
X	53193776	T	C	T53193776C	KDM5C	NM_004187.5(KDM5C):c.4114A>G:p.Arg1372Gly	coding	Benign
X	53193855	C	T	C53193855T	KDM5C	NM_004187.5(KDM5C):c.4039-4G>A	noncoding	Benign
X	53194181	A	T	A53194181T	KDM5C	NM_004187.5(KDM5C):c.3996T>A:p.Ala1332=	coding	Benign
X	53194242	C	T	C53194242T	KDM5C	NM_004187.5(KDM5C):c.3935G>A:p.Arg1312His	coding	Benign
X	53194280	T	C	T53194280C	KDM5C	NM_004187.5(KDM5C):c.3897A>G:p.Glu1299=	coding	Benign
X	53194342	G	A	G53194342A	KDM5C	NM_004187.5(KDM5C):c.3835C>T:p.Gln1279Ter	coding	Pathogenic
X	53194418	C	T	C53194418T	KDM5C	NM_004187.5(KDM5C):c.3759G>A:p.Pro1253=	coding	Benign
X	53194517	G	A	G53194517A	KDM5C	NM_004187.5(KDM5C):c.3660C>T:p.Leu1220=	coding	Benign/Likely_benign
X	53194751	G	T	G53194751T	KDM5C	NM_004187.5(KDM5C):c.3439-13C>A	noncoding	Benign/Likely_benign
X	53194964	C	T	C53194964T	KDM5C	NM_004187.5(KDM5C):c.3405G>A:p.Leu1135=	coding	Benign
X	53195045	G	A	G53195045A	KDM5C	NM_004187.5(KDM5C):c.3324C>T:p.Ala1108=	coding	Benign
X	53195517	G	A	G53195517A	KDM5C	NM_004187.5(KDM5C):c.3121-107C>T	noncoding	Benign
X	53196080	T	G	T53196080G	KDM5C	NM_004187.5(KDM5C):c.2982-26A>C	noncoding	Benign
X	53196319	T	C	T53196319C	KDM5C	NM_004187.5(KDM5C):c.2982-265A>G	noncoding	Benign
X	53196569	A	G	A53196569G	KDM5C	NM_004187.5(KDM5C):c.2981+117T>C	noncoding	Benign
X	53196759	G	A	G53196759A	KDM5C	NM_004187.5(KDM5C):c.2908C>T:p.Gln970Ter	coding	Pathogenic
X	53196790	A	G	A53196790G	KDM5C	NM_004187.5(KDM5C):c.2877T>C:p.Ser959=	coding	Benign
X	53196816	G	A	G53196816A	KDM5C	NM_004187.5(KDM5C):c.2851C>T:p.Arg951Ter	coding	Pathogenic
X	53196851	G	C	G53196851C	KDM5C	NM_004187.5(KDM5C):c.2816C>G:p.Ala939Gly	coding	Benign
X	53196888	G	A	G53196888A	KDM5C	NM_004187.5(KDM5C):c.2779C>T:p.Gln927Ter	coding	Pathogenic
X	53197079	G	A	G53197079A	KDM5C	NM_004187.5(KDM5C):c.2623-35C>T	noncoding	Benign
X	53197129	T	C	T53197129C	KDM5C	NM_004187.5(KDM5C):c.2623-85A>G	noncoding	Benign
X	53197855	T	C	T53197855C	KDM5C	NM_004187.5(KDM5C):c.2538A>G:p.Leu846=	coding	Benign
X	53197864	C	A	C53197864A	KDM5C	NM_004187.5(KDM5C):c.2529G>T:p.Val843=	coding	Benign
X	53198161	A	G	A53198161G	KDM5C	NM_004187.5(KDM5C):c.2517-285T>C	noncoding	Benign
X	53198544	T	A	T53198544A	KDM5C	NM_004187.5(KDM5C):c.2462A>T:p.Glu821Val	coding	Benign
X	53198600	A	G	A53198600G	KDM5C	NM_004187.5(KDM5C):c.2406T>C:p.Arg802=	coding	Benign
X	53199104	G	A	G53199104A	KDM5C	NM_004187.5(KDM5C):c.2116C>T:p.Gln706Ter	coding	Pathogenic
X	53201570	G	A	G53201570A	KDM5C	NM_004187.5(KDM5C):c.2041C>T:p.Arg681Ter	coding	Pathogenic/Likely_pathogenic
X	53210351	C	T	C53210351T	KDM5C	NM_004187.5(KDM5C):c.1746+63G>A	noncoding	Benign
X	53210749	C	T	C53210749T	KDM5C	NM_004187.5(KDM5C):c.1510G>A:p.Val504Met	coding	Pathogenic
X	53211756	C	T	C53211756T	KDM5C	NM_004187.5(KDM5C):c.1242+31G>A	noncoding	Benign
X	53214814	C	G	C53214814G	KDM5C	NM_004187.5(KDM5C):c.997G>C:p.Gly333Arg	coding	Pathogenic
X	53214817	G	A	G53214817A	KDM5C	NM_004187.5(KDM5C):c.994C>T:p.Arg332Ter	coding	Pathogenic
X	53216049	G	C	G53216049C	KDM5C	NM_004187.5(KDM5C):c.781+25C>G	noncoding	Benign
X	53216271	C	T	C53216271T	KDM5C	NM_004187.5(KDM5C):c.658-74G>A	noncoding	Benign
X	53216458	T	C	T53216458C	KDM5C	NM_004187.5(KDM5C):c.658-261A>G	noncoding	Benign
X	53217148	G	A	G53217148A	KDM5C	NM_004187.5(KDM5C):c.652C>T:p.Pro218Ser	coding	Benign
X	53217265	G	A	G53217265A	KDM5C	NM_004187.5(KDM5C):c.535C>T:p.Arg179Cys	coding	Benign
X	53217323	G	A	G53217323A	KDM5C	NM_004187.5(KDM5C):c.523-46C>T	noncoding	Benign
X	53217777	C	T	C53217777T	KDM5C	NM_004187.5(KDM5C):c.522+19G>A	noncoding	Benign
X	53217910	C	G	C53217910G	KDM5C	NM_004187.5(KDM5C):c.408G>C:p.Arg136=	coding	Benign
X	53218004	G	A	G53218004A	KDM5C	NM_004187.5(KDM5C):c.352-38C>T	noncoding	Benign
X	53220656	T	A	T53220656A	KDM5C	NM_004187.5(KDM5C):c.228+183A>T	noncoding	Benign
X	53220865	G	A	G53220865A	KDM5C	NM_004187.5(KDM5C):c.202C>T:p.Arg68Ter	coding	Pathogenic
X	53220923	G	A	G53220923A	KDM5C	NM_004187.5(KDM5C):c.151-7C>T	noncoding	Benign
X	53224810	G	A	G53224810A	KDM5C	NM_004187.5(KDM5C):c.80C>T:p.Pro27Leu	coding	Pathogenic
X	53234933	G	A	G53234933A	IQSEC2	NM_001111125.3(IQSEC2):c.3753C>T:p.His1251=	coding	Benign/Likely_benign
X	53235018	G	A	G53235018A	IQSEC2	NM_001111125.3(IQSEC2):c.3668C>T:p.Pro1223Leu	coding	Benign
X	53235094	C	T	C53235094T	IQSEC2	NM_001111125.3(IQSEC2):c.3592G>A:p.Val1198Ile	coding	Benign
X	53235131	T	G	T53235131G	IQSEC2	NM_001111125.3(IQSEC2):c.3555A>C:p.Pro1185=	coding	Benign/Likely_benign
X	53235134	G	C	G53235134C	IQSEC2	NM_001111125.3(IQSEC2):c.3552C>G:p.Pro1184=	coding	Benign
X	53235145	G	A	G53235145A	IQSEC2	NM_001111125.3(IQSEC2):c.3541C>T:p.Pro1181Ser	coding	Benign
X	53235203	G	A	G53235203A	IQSEC2	NM_001111125.3(IQSEC2):c.3502-19C>T	noncoding	Benign
X	53235785	C	A	C53235785A	IQSEC2	NM_001111125.3(IQSEC2):c.3499G>T:p.Glu1167Ter	coding	Pathogenic
X	53235833	C	T	C53235833T	IQSEC2	NM_001111125.3(IQSEC2):c.3452-1G>A	coding	Pathogenic
X	53236340	G	A	G53236340A	IQSEC2	NM_001111125.3(IQSEC2):c.3433C>T:p.Arg1145Ter	coding	Pathogenic
X	53236417	G	A	G53236417A	IQSEC2	NM_001111125.3(IQSEC2):c.3356C>T:p.Thr1119Met	coding	Benign/Likely_benign
X	53236508	C	G	C53236508G	IQSEC2	NM_001111125.3(IQSEC2):c.3278-13G>C	noncoding	Benign/Likely_benign
X	53236653	T	C	T53236653C	IQSEC2	NM_001111125.3(IQSEC2):c.3278-158A>G	noncoding	Benign
X	53238229	T	C	T53238229C	IQSEC2	NM_001111125.3(IQSEC2):c.3193A>G:p.Ser1065Gly	coding	Benign
X	53238259	G	A	G53238259A	IQSEC2	NM_001111125.3(IQSEC2):c.3163C>T:p.Arg1055Ter	coding	Pathogenic
X	53238325	C	T	C53238325T	IQSEC2	NM_001111125.3(IQSEC2):c.3116-19G>A	noncoding	Benign
X	53238977	A	C	A53238977C	IQSEC2	NM_001111125.3(IQSEC2):c.3115+218T>G	noncoding	Benign
X	53239184	A	C	A53239184C	IQSEC2	NM_001111125.3(IQSEC2):c.3115+11T>G	noncoding	Benign
X	53239204	G	A	G53239204A	IQSEC2	NM_001111125.3(IQSEC2):c.3106C>T:p.Gln1036Ter	coding	Pathogenic
X	53241768	C	T	C53241768T	IQSEC2	NM_001111125.3(IQSEC2):c.3015+16G>A	noncoding	Benign
X	53241771	A	C	A53241771C	IQSEC2	NM_001111125.3(IQSEC2):c.3015+13T>G	noncoding	Benign
X	53241775	T	C	T53241775C	IQSEC2	NM_001111125.3(IQSEC2):c.3015+9A>G	noncoding	Benign/Likely_benign
X	53241847	T	G	T53241847G	IQSEC2	NM_001111125.3(IQSEC2):c.2952A>C:p.Pro984=	coding	Benign/Likely_benign
X	53241862	G	A	G53241862A	IQSEC2	NM_001111125.3(IQSEC2):c.2937C>T:p.Tyr979=	coding	Benign/Likely_benign
X	53241868	C	T	C53241868T	IQSEC2	NM_001111125.3(IQSEC2):c.2931G>A:p.Gln977=	coding	Benign
X	53241888	G	A	G53241888A	IQSEC2	NM_001111125.3(IQSEC2):c.2911C>T:p.Arg971Ter	coding	Pathogenic/Likely_pathogenic
X	53241965	T	G	T53241965G	IQSEC2	NM_001111125.3(IQSEC2):c.2890-56A>C	noncoding	Benign
X	53243410	C	T	C53243410T	IQSEC2	NM_001111125.3(IQSEC2):c.2811G>A:p.Gln937=	coding	Benign
X	53247034	A	G	A53247034G	IQSEC2	NM_001111125.3(IQSEC2):c.2684T>C:p.Met895Thr	coding	Benign
X	53248103	G	T	G53248103T	IQSEC2	NM_001111125.3(IQSEC2):c.2582+11C>A	noncoding	Benign
X	53248189	G	A	G53248189A	IQSEC2	NM_001111125.3(IQSEC2):c.2507C>T:p.Ala836Val	coding	Pathogenic/Likely_pathogenic
X	53248729	G	A	G53248729A	IQSEC2	NM_001111125.3(IQSEC2):c.2451C>T:p.Asp817=	coding	Benign/Likely_benign
X	53248800	C	A	C53248800A	IQSEC2	NM_001111125.3(IQSEC2):c.2380G>T:p.Glu794Ter	coding	Pathogenic
X	53248825	C	T	C53248825T	IQSEC2	NM_001111125.3(IQSEC2):c.2355G>A:p.Pro785=	coding	Benign
X	53248846	C	T	C53248846T	IQSEC2	NM_001111125.3(IQSEC2):c.2334G>A:p.Arg778=	coding	Benign
X	53248875	C	A	C53248875A	IQSEC2	NM_001111125.3(IQSEC2):c.2305G>T:p.Glu769Ter	coding	Pathogenic
X	53250051	G	C	G53250051C	IQSEC2	NM_001111125.3(IQSEC2):c.2297+228C>G	noncoding	Benign
X	53250275	G	A	G53250275A	IQSEC2	NM_001111125.3(IQSEC2):c.2297+4C>T	noncoding	Benign
X	53250314	C	T	C53250314T	IQSEC2	NM_001111125.3(IQSEC2):c.2262G>A:p.Arg754=	coding	Benign/Likely_benign
X	53250351	C	T	C53250351T	IQSEC2	NM_001111125.3(IQSEC2):c.2225G>A:p.Trp742Ter	coding	Pathogenic
X	53250373	G	A	G53250373A	IQSEC2	NM_001111125.3(IQSEC2):c.2203C>T:p.Gln735Ter	coding	Pathogenic
X	53250401	C	T	C53250401T	IQSEC2	NM_001111125.3(IQSEC2):c.2175G>A:p.Pro725=	coding	Benign/Likely_benign
X	53250419	G	C	G53250419C	IQSEC2	NM_001111125.3(IQSEC2):c.2157C>G:p.Asp719Glu	coding	Benign
X	53250488	G	A	G53250488A	IQSEC2	NM_001111125.3(IQSEC2):c.2088C>T:p.Asn696=	coding	Benign
X	53250524	G	A	G53250524A	IQSEC2	NM_001111125.3(IQSEC2):c.2052C>T:p.Cys684=	coding	Benign/Likely_benign
X	53250524	G	T	G53250524T	IQSEC2	NM_001111125.3(IQSEC2):c.2052C>A:p.Cys684Ter	coding	Pathogenic
X	53250569	G	A	G53250569A	IQSEC2	NM_001111125.3(IQSEC2):c.2007C>T:p.Gly669=	coding	Benign/Likely_benign
X	53250632	G	A	G53250632A	IQSEC2	NM_001111125.3(IQSEC2):c.1944C>T:p.Tyr648=	coding	Benign/Likely_benign
X	53251078	C	G	C53251078G	IQSEC2	NM_001111125.3(IQSEC2):c.1498G>C:p.Glu500Gln	coding	Benign/Likely_benign
X	53251093	G	A	G53251093A	IQSEC2	NM_001111125.3(IQSEC2):c.1483C>T:p.Gln495Ter	coding	Pathogenic
X	53251239	G	A	G53251239A	IQSEC2	NM_001111125.3(IQSEC2):c.1402-65C>T	noncoding	Benign
X	53254523	T	C	T53254523C	IQSEC2	NM_001111125.3(IQSEC2):c.1401+7A>G	noncoding	Benign
X	53254635	A	C	A53254635C	IQSEC2	NM_001111125.3(IQSEC2):c.1296T>G:p.Tyr432Ter	coding	Pathogenic
X	53254882	G	A	G53254882A	IQSEC2	NM_001111125.3(IQSEC2):c.1049C>T:p.Ala350Val	coding	Pathogenic
X	53255796	G	A	G53255796A	IQSEC2	NM_001111125.3(IQSEC2):c.999+4C>T	noncoding	Benign
X	53291725	C	T	C53291725T	IQSEC2	NM_001111125.3(IQSEC2):c.737+170G>A	noncoding	Benign
X	53320505	G	T	G53320505T	IQSEC2	NM_001111125.3(IQSEC2):c.619C>A:p.Arg207Ser	coding	Benign
X	53320689	G	A	G53320689A	IQSEC2	NM_001111125.3(IQSEC2):c.435C>T:p.Thr145=	coding	Benign/Likely_benign
X	53320739	C	T	C53320739T	IQSEC2	NM_001111125.3(IQSEC2):c.385G>A:p.Val129Met	coding	Benign
X	53320910	G	A	G53320910A	IQSEC2	NM_001111125.3(IQSEC2):c.214C>T:p.Leu72=	coding	Benign/Likely_benign
X	53380200	G	A	G53380200A	SMC1A	NM_006306.4(SMC1A):c.3619-14C>T	noncoding	Benign
X	53381090	G	A	G53381090A	SMC1A	NM_006306.4(SMC1A):c.3438-3C>T	noncoding	Benign/Likely_benign
X	53381105	G	A	G53381105A	SMC1A	NM_006306.4(SMC1A):c.3438-18C>T	noncoding	Benign
X	53381976	C	T	C53381976T	SMC1A	NM_006306.4(SMC1A):c.3437+256G>A	noncoding	Benign
X	53382302	G	A	G53382302A	SMC1A	NM_006306.4(SMC1A):c.3367C>T:p.Arg1123Trp	coding	Pathogenic
X	53382307	C	T	C53382307T	SMC1A	NM_006306.4(SMC1A):c.3362G>A:p.Arg1121His	coding	Pathogenic
X	53382502	C	T	C53382502T	SMC1A	NM_006306.4(SMC1A):c.3285+4G>A	noncoding	Benign
X	53382646	G	A	G53382646A	SMC1A	NM_006306.4(SMC1A):c.3145C>T:p.Arg1049Ter	coding	Pathogenic
X	53382914	C	T	C53382914T	SMC1A	NM_006306.4(SMC1A):c.3130+183G>A	noncoding	Benign
X	53394735	A	C	A53394735C	SMC1A	NM_006306.4(SMC1A):c.2973+43T>G	noncoding	Benign
X	53394746	A	C	A53394746C	SMC1A	NM_006306.4(SMC1A):c.2973+32T>G	noncoding	Benign
X	53394752	A	C	A53394752C	SMC1A	NM_006306.4(SMC1A):c.2973+26T>G	noncoding	Benign
X	53394760	C	T	C53394760T	SMC1A	NM_006306.4(SMC1A):c.2973+18G>A	noncoding	Benign
X	53394828	G	A	G53394828A	SMC1A	NM_006306.4(SMC1A):c.2923C>T:p.Arg975Ter	coding	Pathogenic
X	53394852	G	A	G53394852A	SMC1A	NM_006306.4(SMC1A):c.2899C>T:p.Gln967Ter	coding	Pathogenic
X	53396207	C	T	C53396207T	SMC1A	NM_006306.4(SMC1A):c.2862+20G>A	noncoding	Benign
X	53396213	G	A	G53396213A	SMC1A	NM_006306.4(SMC1A):c.2862+14C>T	noncoding	Benign
X	53396566	C	T	C53396566T	SMC1A	NM_006306.4(SMC1A):c.2614G>A:p.Asp872Asn	coding	Benign
X	53396569	G	A	G53396569A	SMC1A	NM_006306.4(SMC1A):c.2611C>T:p.Gln871Ter	coding	Pathogenic/Likely_pathogenic
X	53399572	A	C	A53399572C	SMC1A	NM_006306.4(SMC1A):c.2562+17T>G	noncoding	Benign
X	53399714	G	A	G53399714A	SMC1A	NM_006306.4(SMC1A):c.2437C>T:p.Gln813Ter	coding	Pathogenic
X	53403588	G	A	G53403588A	SMC1A	NM_006306.4(SMC1A):c.2398C>T:p.Gln800Ter	coding	Pathogenic
X	53403645	A	G	A53403645G	SMC1A	NM_006306.4(SMC1A):c.2341T>C:p.Cys781Arg	coding	Pathogenic
X	53404752	G	A	G53404752A	SMC1A	NM_006306.4(SMC1A):c.2196+260C>T	noncoding	Benign
X	53405035	G	A	G53405035A	SMC1A	NM_006306.4(SMC1A):c.2173C>T:p.Arg725Ter	coding	Pathogenic
X	53405076	C	T	C53405076T	SMC1A	NM_006306.4(SMC1A):c.2132G>A:p.Arg711Gln	coding	Pathogenic
X	53405236	G	C	G53405236C	SMC1A	NM_006306.4(SMC1A):c.2058+9C>G	noncoding	Benign
X	53405269	C	T	C53405269T	SMC1A	NM_006306.4(SMC1A):c.2034G>A:p.Lys678=	coding	Benign
X	53405345	G	A	G53405345A	SMC1A	NM_006306.4(SMC1A):c.1958C>T:p.Ser653Phe	coding	Pathogenic
X	53405380	C	T	C53405380T	SMC1A	NM_006306.4(SMC1A):c.1923G>A:p.Leu641=	coding	Benign
X	53405405	G	A	G53405405A	SMC1A	NM_006306.4(SMC1A):c.1912-14C>T	noncoding	Benign
X	53405481	G	C	G53405481C	SMC1A	NM_006306.4(SMC1A):c.1911+12C>G	noncoding	Benign
X	53405938	G	A	G53405938A	SMC1A	NM_006306.4(SMC1A):c.1564C>T:p.Leu522=	coding	Benign
X	53405954	G	A	G53405954A	SMC1A	NM_006306.4(SMC1A):c.1548C>T:p.Tyr516=	coding	Benign/Likely_benign
X	53409112	G	A	G53409112A	SMC1A	NM_006306.4(SMC1A):c.1495C>T:p.Arg499Ter	coding	Pathogenic/Likely_pathogenic
X	53409260	T	G	T53409260G	SMC1A	NM_006306.4(SMC1A):c.1347A>C:p.Leu449=	coding	Benign
X	53411844	G	A	G53411844A	SMC1A	NM_006306.4(SMC1A):c.1171C>T:p.Gln391Ter	coding	Pathogenic
X	53412007	C	T	C53412007T	SMC1A	NM_006306.4(SMC1A):c.1101G>A:p.Leu367=	coding	Benign/Likely_benign
X	53412883	C	T	C53412883T	SMC1A	NM_006306.4(SMC1A):c.854+17G>A	noncoding	Benign
X	53412929	C	T	C53412929T	SMC1A	NM_006306.4(SMC1A):c.825G>A:p.Arg275=	coding	Benign/Likely_benign
X	53412938	T	C	T53412938C	SMC1A	NM_006306.4(SMC1A):c.816A>G:p.Lys272=	coding	Benign
X	53413126	G	A	G53413126A	SMC1A	NM_006306.4(SMC1A):c.628C>T:p.Gln210Ter	coding	Pathogenic
X	53413350	T	C	T53413350C	SMC1A	NM_006306.4(SMC1A):c.497A>G:p.Gln166Arg	coding	Benign
X	53413449	A	C	A53413449C	SMC1A	NM_006306.4(SMC1A):c.412-14T>G	noncoding	Benign
X	53414962	T	C	T53414962C	SMC1A	NM_006306.4(SMC1A):c.298+19A>G	noncoding	Benign/Likely_benign
X	53414993	G	A	G53414993A	SMC1A	NM_006306.4(SMC1A):c.286C>T:p.Arg96Cys	coding	Pathogenic
X	53415105	T	C	T53415105C	SMC1A	NM_006306.4(SMC1A):c.174A>G:p.Val58=	coding	Benign
X	53421873	A	G	A53421873G	SMC1A	NM_006306.4(SMC1A):c.109+619T>C	noncoding	Benign
X	53422829	C	T	C53422829T	SMC1A	Single_allele	noncoding	Benign
X	53432035	G	A	G53432035A	HSD17B10	NM_004493.3(HSD17B10):c.439C>T:p.Arg147Cys	coding	Pathogenic/Likely_pathogenic
X	53432257	C	T	C53432257T	HSD17B10	NM_004493.3(HSD17B10):c.347G>A:p.Arg116Gln	coding	Pathogenic
X	53432321	C	T	C53432321T	HSD17B10	NM_004493.3(HSD17B10):c.283G>A:p.Ala95Thr	coding	Benign
X	53433703	G	A	G53433703A	HSD17B10	NM_004493.3(HSD17B10):c.192+19C>T	noncoding	Benign/Likely_benign
X	53434300	G	A	G53434300A	HSD17B10	NM_004493.3(HSD17B10):c.27+19C>T	noncoding	Benign
X	53434412	G	C	G53434412C	HSD17B10	Single_allele	noncoding	Benign
X	53533447	A	G	A53533447G	HUWE1	NM_031407.7(HUWE1):c.13023-36T>C	noncoding	Benign
X	53534585	C	T	C53534585T	HUWE1	NM_031407.7(HUWE1):c.12762G>A:p.Leu4254=	coding	Benign
X	53534737	A	G	A53534737G	HUWE1	NM_031407.7(HUWE1):c.12650-40T>C	noncoding	Benign
X	53535335	G	A	G53535335A	HUWE1	NM_031407.7(HUWE1):c.12649+49C>T	noncoding	Benign
X	53535362	G	C	G53535362C	HUWE1	NM_031407.7(HUWE1):c.12649+22C>G	noncoding	Benign
X	53535368	G	C	G53535368C	HUWE1	NM_031407.7(HUWE1):c.12649+16C>G	noncoding	Benign
X	53535535	G	C	G53535535C	HUWE1	NM_031407.7(HUWE1):c.12532-34C>G	noncoding	Benign
X	53535692	G	C	G53535692C	HUWE1	NM_031407.7(HUWE1):c.12532-191C>G	noncoding	Benign
X	53536294	G	C	G53536294C	HUWE1	NM_031407.7(HUWE1):c.12426-42C>G	noncoding	Benign
X	53536301	G	A	G53536301A	HUWE1	NM_031407.7(HUWE1):c.12426-49C>T	noncoding	Benign
X	53537539	C	T	C53537539T	HUWE1	NM_031407.7(HUWE1):c.12137+17G>A	noncoding	Benign
X	53538140	G	A	G53538140A	HUWE1	NM_031407.7(HUWE1):c.11996+197C>T	noncoding	Benign
X	53538724	A	T	A53538724T	HUWE1	NM_031407.7(HUWE1):c.11878+111T>A	noncoding	Benign
X	53539632	C	G	C53539632G	HUWE1	NM_031407.7(HUWE1):c.11632+25G>C	noncoding	Benign
X	53542468	G	A	G53542468A	HUWE1	NM_031407.7(HUWE1):c.11451C>T:p.Pro3817=	coding	Benign/Likely_benign
X	53542584	T	C	T53542584C	HUWE1	NM_031407.7(HUWE1):c.11380-45A>G	noncoding	Benign
X	53544454	G	C	G53544454C	HUWE1	NM_031407.7(HUWE1):c.11251+106C>G	noncoding	Benign
X	53546542	G	A	G53546542A	HUWE1	NM_031407.7(HUWE1):c.10809C>T:p.Asn3603=	coding	Benign
X	53546792	G	A	G53546792A	HUWE1	NM_031407.7(HUWE1):c.10670C>T:p.Ala3557Val	coding	Benign
X	53546856	C	G	C53546856G	HUWE1	NM_031407.7(HUWE1):c.10637-31G>C	noncoding	Benign
X	53547799	G	C	G53547799C	HUWE1	NM_031407.7(HUWE1):c.10510C>G:p.Pro3504Ala	coding	Benign/Likely_benign
X	53548048	T	A	T53548048A	HUWE1	NM_031407.7(HUWE1):c.10261A>T:p.Thr3421Ser	coding	Benign
X	53548088	G	A	G53548088A	HUWE1	NM_031407.7(HUWE1):c.10221C>T:p.Ser3407=	coding	Benign
X	53548937	G	A	G53548937A	HUWE1	NM_031407.7(HUWE1):c.10035+22C>T	noncoding	Benign
X	53549142	G	A	G53549142A	HUWE1	NM_031407.7(HUWE1):c.9852C>T:p.Ser3284_Trp3285=	coding	Benign
X	53549197	T	C	T53549197C	HUWE1	NM_031407.7(HUWE1):c.9797A>G:p.Asn3266Ser	coding	Benign/Likely_benign
X	53550789	A	C	A53550789C	HUWE1	NM_031407.7(HUWE1):c.9386-21T>G	noncoding	Benign
X	53550929	G	A	G53550929A	HUWE1	NM_031407.7(HUWE1):c.9357C>T:p.Ser3119=	coding	Benign
X	53551221	T	A	T53551221A	HUWE1	NM_031407.7(HUWE1):c.9097-32A>T	noncoding	Benign
X	53552607	T	G	T53552607G	HUWE1	NM_031407.7(HUWE1):c.8750+31A>C	noncoding	Benign
X	53552840	T	A	T53552840A	HUWE1	NM_031407.7(HUWE1):c.8548A>T:p.Ser2850Cys	coding	Benign
X	53552913	A	G	A53552913G	HUWE1	NM_031407.7(HUWE1):c.8495-20T>C	noncoding	Benign/Likely_benign
X	53557300	A	C	A53557300C	HUWE1	NM_031407.7(HUWE1):c.8206+82T>G	noncoding	Benign
X	53557457	G	A	G53557457A	HUWE1	NM_031407.7(HUWE1):c.8161-30C>T	noncoding	Benign
X	53559112	T	G	T53559112G	HUWE1	NM_031407.7(HUWE1):c.7916-52A>C	noncoding	Benign
X	53562096	G	A	G53562096A	HUWE1	NM_031407.7(HUWE1):c.7338+15C>T	noncoding	Benign
X	53564766	T	C	T53564766C	HUWE1	NM_031407.7(HUWE1):c.6881-44A>G	noncoding	Benign
X	53565023	G	A	G53565023A	HUWE1	NM_031407.7(HUWE1):c.6880+44C>T	noncoding	Benign
X	53568894	A	G	A53568894G	HUWE1	NM_031407.7(HUWE1):c.6525-20T>C	noncoding	Benign
X	53568915	C	T	C53568915T	HUWE1	NM_031407.7(HUWE1):c.6525-41G>A	noncoding	Benign
X	53569871	T	C	T53569871C	HUWE1	NM_031407.7(HUWE1):c.6313-44A>G	noncoding	Benign
X	53569875	A	G	A53569875G	HUWE1	NM_031407.7(HUWE1):c.6313-48T>C	noncoding	Benign
X	53575030	A	C	A53575030C	HUWE1	NM_031407.7(HUWE1):c.6097+125T>G	noncoding	Benign
X	53575482	T	G	T53575482G	HUWE1	NM_031407.7(HUWE1):c.6030+161A>C	noncoding	Benign
X	53575623	C	T	C53575623T	HUWE1	NM_031407.7(HUWE1):c.6030+20G>A	noncoding	Benign/Likely_benign
X	53575686	C	T	C53575686T	HUWE1	NM_031407.7(HUWE1):c.5987G>A:p.Arg1996His	coding	Benign
X	53577154	A	G	A53577154G	HUWE1	NM_031407.7(HUWE1):c.5717-87T>C	noncoding	Benign
X	53580696	A	G	A53580696G	HUWE1	NM_031407.7(HUWE1):c.5716+135T>C	noncoding	Benign
X	53580782	T	C	T53580782C	HUWE1	NM_031407.7(HUWE1):c.5716+49A>G	noncoding	Benign
X	53580794	A	C	A53580794C	HUWE1	NM_031407.7(HUWE1):c.5716+37T>G	noncoding	Benign
X	53580816	G	A	G53580816A	HUWE1	NM_031407.7(HUWE1):c.5716+15C>T	noncoding	Benign
X	53586589	T	A	T53586589A	HUWE1	NM_031407.7(HUWE1):c.4743-18A>T	noncoding	Benign/Likely_benign
X	53588570	G	A	G53588570A	HUWE1	NM_031407.7(HUWE1):c.4462-36C>T	noncoding	Benign
X	53588584	G	C	G53588584C	HUWE1	NM_031407.7(HUWE1):c.4462-50C>G	noncoding	Benign
X	53590530	T	C	T53590530C	HUWE1	NM_031407.7(HUWE1):c.4096-31A>G	noncoding	Benign
X	53590988	G	C	G53590988C	HUWE1	NM_031407.7(HUWE1):c.4095+12C>G	noncoding	Benign
X	53592353	T	C	T53592353C	HUWE1	NM_031407.7(HUWE1):c.3972+45A>G	noncoding	Benign
X	53592654	A	G	A53592654G	HUWE1	NM_031407.7(HUWE1):c.3742-26T>C	noncoding	Benign
X	53592657	A	G	A53592657G	HUWE1	NM_031407.7(HUWE1):c.3742-29T>C	noncoding	Benign
X	53592674	C	G	C53592674G	HUWE1	NM_031407.7(HUWE1):c.3742-46G>C	noncoding	Benign
X	53593345	T	C	T53593345C	HUWE1	NM_031407.7(HUWE1):c.3741+19A>G	noncoding	Benign
X	53593514	T	C	T53593514C	HUWE1	NM_031407.7(HUWE1):c.3591A>G:p.Glu1197=	coding	Benign/Likely_benign
X	53593924	T	C	T53593924C	HUWE1	NM_031407.7(HUWE1):c.3504-323A>G	noncoding	Benign
X	53595118	T	A	T53595118A	HUWE1	NM_031407.7(HUWE1):c.3380+69A>T	noncoding	Benign
X	53595273	C	T	C53595273T	HUWE1	NM_031407.7(HUWE1):c.3294G>A:p.Ala1098=	coding	Benign
X	53600109	A	G	A53600109G	HUWE1	NM_031407.7(HUWE1):c.3163+9T>C	noncoding	Benign
X	53604998	A	C	A53604998C	HUWE1	NM_031407.7(HUWE1):c.2497-164T>G	noncoding	Benign
X	53607373	T	G	T53607373G	HUWE1	NM_031407.7(HUWE1):c.2496+150A>C	noncoding	Benign
X	53607721	A	T	A53607721T	HUWE1	NM_031407.7(HUWE1):c.2320-22T>A	noncoding	Benign
X	53616710	A	G	A53616710G	HUWE1	NM_031407.7(HUWE1):c.1957+260T>C	noncoding	Benign
X	53616974	G	C	G53616974C	HUWE1	NM_031407.7(HUWE1):c.1953C>G:p.Pro651=	coding	Benign/Likely_benign
X	53617458	T	G	T53617458G	HUWE1	NM_031407.7(HUWE1):c.1673-12A>C	noncoding	Benign
X	53617475	C	T	C53617475T	HUWE1	NM_031407.7(HUWE1):c.1673-29G>A	noncoding	Benign
X	53627361	G	A	G53627361A	HUWE1	NM_031407.7(HUWE1):c.1489+49C>T	noncoding	Benign
X	53631372	A	G	A53631372G	HUWE1	NM_031407.7(HUWE1):c.762+42T>C	noncoding	Benign
X	53631615	C	T	C53631615T	HUWE1	NM_031407.7(HUWE1):c.646-1G>A	coding	Pathogenic
X	53631632	A	G	A53631632G	HUWE1	NM_031407.7(HUWE1):c.646-18T>C	noncoding	Benign
X	53632626	C	T	C53632626T	HUWE1	NM_031407.7(HUWE1):c.568-62G>A	noncoding	Benign
X	53645011	A	G	A53645011G	HUWE1	NM_031407.7(HUWE1):c.504+300T>C	noncoding	Benign
X	53645480	G	C	G53645480C	HUWE1	NM_031407.7(HUWE1):c.352-17C>G	noncoding	Benign
X	53645720	G	A	G53645720A	HUWE1	NM_031407.7(HUWE1):c.352-257C>T	noncoding	Benign
X	53645748	T	A	T53645748A	HUWE1	NM_031407.7(HUWE1):c.352-285A>T	noncoding	Benign
X	53645750	T	A	T53645750A	HUWE1	NM_031407.7(HUWE1):c.352-287A>T	noncoding	Benign
X	53648530	C	A	C53648530A	HUWE1	NM_031407.7(HUWE1):c.46-220G>T	noncoding	Benign
X	53648535	A	C	A53648535C	HUWE1	NM_031407.7(HUWE1):c.46-225T>G	noncoding	Benign
X	53648545	A	C	A53648545C	HUWE1	NM_031407.7(HUWE1):c.46-235T>G	noncoding	Benign
X	53648550	C	A	C53648550A	HUWE1	NM_031407.7(HUWE1):c.46-240G>T	noncoding	Benign
X	53654158	T	C	T53654158C	HUWE1	NM_031407.7(HUWE1):c.-24-27A>G	noncoding	Benign
X	53940551	G	C	G53940551C	PHF8	NM_015107.3(PHF8):c.2650-35C>G	noncoding	Benign
X	53985147	G	C	G53985147C	PHF8	NM_015107.3(PHF8):c.2210C>G:p.Ser737Ter	coding	Pathogenic/Likely_pathogenic
X	53985152	C	T	C53985152T	PHF8	NM_015107.3(PHF8):c.2205G>A:p.Ser735=	coding	Benign/Likely_benign
X	54014548	C	T	C54014548T	PHF8	NM_015107.3(PHF8):c.612G>A:p.Val204=	coding	Benign/Likely_benign
X	54293201	T	A	T54293201A	WNK3	NM_020922.5(WNK3):c.1820A>T:p.Glu607Val	coding	Pathogenic
X	54307921	C	T	C54307921T	WNK3	NM_020922.5(WNK3):c.1089+1G>A	noncoding	Pathogenic
X	54309127	A	G	A54309127G	WNK3	NM_020922.5(WNK3):c.899T>C:p.Leu300Ser	coding	Pathogenic
X	54309305	G	A	G54309305A	WNK3	NM_020922.5(WNK3):c.721C>T:p.Arg241Ter	coding	Pathogenic
X	54311218	G	C	G54311218C	WNK3	NM_020922.5(WNK3):c.611C>G:p.Pro204Arg	coding	Pathogenic
X	54311293	T	C	T54311293C	WNK3	NM_020922.5(WNK3):c.538-2A>G	noncoding	Pathogenic
X	54440632	C	T	C54440632T	TSR2	NM_058163.3(TSR2):c.82-58C>T	noncoding	Benign
X	54444595	A	G	A54444595G	TSR2	NM_058163.3(TSR2):c.*45A>G	noncoding	Benign
X	54446260	C	T	C54446260T	FGD1;TSR2	NM_004463.3(FGD1):c.2735G>A:p.Trp912Ter	coding	Pathogenic
X	54446266	C	T	C54446266T	FGD1	NM_004463.3(FGD1):c.2729G>A:p.Arg910Gln	coding	Benign
X	54449056	C	G	C54449056G	FGD1	NM_004463.3(FGD1):c.2274+87G>C	noncoding	Benign
X	54449956	G	T	G54449956T	FGD1	NM_004463.3(FGD1):c.2047-196C>A	noncoding	Benign
X	54456075	A	G	A54456075G	FGD1	NM_004463.3(FGD1):c.1842+145T>C	noncoding	Benign
X	54465200	G	C	G54465200C	FGD1	NM_004463.3(FGD1):c.1636+251C>G	noncoding	Benign
X	54465917	A	G	A54465917G	FGD1	NM_004463.3(FGD1):c.1341-65T>C	noncoding	Benign
X	54467797	G	A	G54467797A	FGD1	NM_004463.3(FGD1):c.1327C>T:p.Arg443Cys	coding	Pathogenic
X	54469996	C	G	C54469996G	FGD1	NM_004463.3(FGD1):c.1101+20G>C	noncoding	Benign/Likely_benign
X	54496271	G	A	G54496271A	FGD1	Single_allele	noncoding	Benign
X	54809928	A	G	A54809928G	MAGED2	NM_177433.3(MAGED2):c.252A>G:p.Ser84=	coding	Benign
X	54810072	A	G	A54810072G	MAGED2	NM_177433.3(MAGED2):c.396A>G:p.Thr132=	coding	Benign
X	54810907	C	T	C54810907T	MAGED2	NM_177433.3(MAGED2):c.624C>T:p.Ala208=	coding	Benign
X	54811194	G	A	G54811194A	MAGED2	NM_177433.3(MAGED2):c.847-56G>A	noncoding	Benign
X	54811331	C	G	C54811331G	MAGED2	NM_177433.3(MAGED2):c.910+18C>G	noncoding	Benign
X	54811644	C	T	C54811644T	MAGED2	NM_177433.3(MAGED2):c.981C>T:p.Ser327=	coding	Benign
X	54811919	C	A	C54811919A	MAGED2	NM_177433.3(MAGED2):c.991-238C>A	noncoding	Benign
X	54811986	C	A	C54811986A	MAGED2	NM_177433.3(MAGED2):c.991-171C>A	noncoding	Benign
X	54812004	G	A	G54812004A	MAGED2	NM_177433.3(MAGED2):c.991-153G>A	noncoding	Benign
X	54812352	A	G	A54812352G	MAGED2	NM_177433.3(MAGED2):c.1085+101A>G	noncoding	Benign
X	54812658	A	G	A54812658G	MAGED2	NM_177433.3(MAGED2):c.1086-287A>G	noncoding	Benign
X	54813072	C	A	C54813072A	MAGED2	NM_177433.3(MAGED2):c.1166-46C>A	noncoding	Benign
X	54813282	G	C	G54813282C	MAGED2	NM_177433.3(MAGED2):c.1208+122G>C	noncoding	Benign
X	54813580	C	T	C54813580T	MAGED2	NM_177433.3(MAGED2):c.1271+30C>T	noncoding	Benign
X	54813731	G	C	G54813731C	MAGED2	NM_177433.3(MAGED2):c.1271+181G>C	noncoding	Benign
X	54815024	G	A	G54815024A	MAGED2	NM_177433.3(MAGED2):c.1387-224G>A	noncoding	Benign
X	54815078	C	A	C54815078A	MAGED2	NM_177433.3(MAGED2):c.1387-170C>A	noncoding	Benign
X	54815304	G	A	G54815304A	MAGED2	NM_177433.3(MAGED2):c.1443G>A:p.Ala481=	coding	Benign
X	55009226	G	A	G55009226A	ALAS2	NM_000032.5(ALAS2):c.1718C>T:p.Ser573Phe	coding	Benign/Likely_benign
X	55015172	G	A	G55015172A	ALAS2	NM_000032.5(ALAS2):c.1169-157C>T	noncoding	Benign
X	55015965	G	C	G55015965C	ALAS2	NM_000032.5(ALAS2):c.1004-223C>G	noncoding	Benign
X	55017895	C	G	C55017895G	ALAS2	NM_000032.5(ALAS2):c.824-230G>C	noncoding	Benign
X	55020959	A	G	A55020959G	ALAS2	NM_000032.5(ALAS2):c.638+93T>C	noncoding	Benign
X	55021202	C	T	C55021202T	ALAS2	NM_000032.5(ALAS2):c.488G>A:p.Arg163His	coding	Pathogenic
X	55024071	T	C	T55024071C	ALAS2	NM_000032.5(ALAS2):c.305-204A>G	noncoding	Benign
X	55025126	G	A	G55025126A	ALAS2	NM_000032.5(ALAS2):c.182-286C>T	noncoding	Benign
X	55026297	C	A	C55026297A	ALAS2	NM_000032.5(ALAS2):c.-15-282G>T	noncoding	Benign
X	55027568	G	A	G55027568A	ALAS2	NM_000032.5(ALAS2):c.-15-1553C>T	noncoding	Benign
X	55031184	G	C	G55031184C	ALAS2	NM_000032.4(ALAS2):c.-258C>G	noncoding	Benign/Likely_benign
X	56563924	T	A	T56563924A	UBQLN2	NM_013444.4(UBQLN2):c.51T>A:p.Pro17=	coding	Benign
X	56564590	G	A	G56564590A	UBQLN2	NM_013444.4(UBQLN2):c.717G>A:p.Arg239=	coding	Benign
X	56564597	G	A	G56564597A	UBQLN2	NM_013444.4(UBQLN2):c.724G>A:p.Ala242Thr	coding	Pathogenic
X	56565175	G	T	G56565175T	UBQLN2	NM_013444.4(UBQLN2):c.1302G>T:p.Leu434=	coding	Benign
X	56565607	A	G	A56565607G	UBQLN2	NM_013444.4(UBQLN2):c.1734A>G:p.Pro578=	coding	Benign
X	57378730	T	C	T57378730C	FAAH2	NM_174912.4(FAAH2):c.822T>C:p.Arg274=	coding	Benign
X	57446986	G	A	G57446986A	FAAH2	NM_174912.4(FAAH2):c.1175G>A:p.Trp392Ter	coding	Pathogenic
X	63638127	G	T	G63638127T	ARHGEF9	NM_001353921.2(ARHGEF9):c.1473C>A:p.Asp491Glu	coding	Benign
X	63638198	C	A	C63638198A	ARHGEF9	NM_001353921.2(ARHGEF9):c.1402G>T:p.Ala468Ser	coding	Benign
X	63643756	C	T	C63643756T	ARHGEF9	NM_001353921.2(ARHGEF9):c.1390+224G>A	noncoding	Benign
X	63644040	T	C	T63644040C	ARHGEF9	NM_001353921.2(ARHGEF9):c.1330A>G:p.Ile444Val	coding	Benign
X	63644238	C	T	C63644238T	ARHGEF9	NM_001353921.2(ARHGEF9):c.1322-190G>A	noncoding	Benign
X	63655547	C	T	C63655547T	ARHGEF9	NM_001353921.2(ARHGEF9):c.1268G>A:p.Trp423Ter	coding	Pathogenic
X	63655665	C	A	C63655665A	ARHGEF9	NM_001353921.2(ARHGEF9):c.1150G>T:p.Glu384Ter	coding	Pathogenic
X	63665873	G	C	G63665873C	ARHGEF9	NM_001353921.2(ARHGEF9):c.1077+13C>G	noncoding	Benign
X	63665930	G	A	G63665930A	ARHGEF9	NM_001353921.2(ARHGEF9):c.1033C>T:p.Arg345Trp	coding	Pathogenic/Likely_pathogenic
X	63666021	G	T	G63666021T	ARHGEF9	NM_001353921.2(ARHGEF9):c.946-4C>A	noncoding	Benign/Likely_benign
X	63666033	G	A	G63666033A	ARHGEF9	NM_001353921.2(ARHGEF9):c.946-16C>T	noncoding	Benign/Likely_benign
X	63674041	C	T	C63674041T	ARHGEF9	NM_001353921.2(ARHGEF9):c.942G>A:p.Trp314Ter	coding	Pathogenic
X	63678426	A	G	A63678426G	ARHGEF9	NM_001353921.2(ARHGEF9):c.729T>C:p.Asp243=	coding	Benign
X	63697018	T	C	T63697018C	ARHGEF9	NM_001353921.2(ARHGEF9):c.582+107A>G	noncoding	Benign
X	63697125	G	A	G63697125A	ARHGEF9	NM_001353921.2(ARHGEF9):c.582C>T:p.His194=	coding	Benign/Likely_benign
X	63697152	G	A	G63697152A	ARHGEF9	NM_001353921.2(ARHGEF9):c.555C>T:p.Ser185=	coding	Benign
X	63697260	G	A	G63697260A	ARHGEF9	NM_001353921.2(ARHGEF9):c.447C>T:p.Asp149=	coding	Benign/Likely_benign
X	63697292	G	A	G63697292A	ARHGEF9	NM_001353921.2(ARHGEF9):c.415C>T:p.Gln139Ter	coding	Pathogenic
X	63697323	C	T	C63697323T	ARHGEF9	NM_001353921.2(ARHGEF9):c.403-19G>A	noncoding	Benign
X	63724637	T	C	T63724637C	ARHGEF9	NM_001353921.2(ARHGEF9):c.105A>G:p.Ala35=	coding	Benign/Likely_benign
X	63724693	T	C	T63724693C	ARHGEF9	NM_001353921.2(ARHGEF9):c.49A>G:p.Ile17Val	coding	Benign/Likely_benign
X	63724727	G	A	G63724727A	ARHGEF9	NM_001353921.2(ARHGEF9):c.31-16C>T	noncoding	Benign
X	63724871	G	A	G63724871A	ARHGEF9	NM_001353921.2(ARHGEF9):c.31-160C>T	noncoding	Benign
X	64189957	T	C	T64189957C	AMER1	NM_152424.4(AMER1):c.3330A>G:p.Ser1110=	coding	Benign
X	64190061	T	A	T64190061A	AMER1	NM_152424.4(AMER1):c.3226A>T:p.Lys1076Ter	coding	Pathogenic
X	64190230	T	C	T64190230C	AMER1	NM_152424.4(AMER1):c.3057A>G:p.Gln1019=	coding	Benign
X	64190341	C	T	C64190341T	AMER1	NM_152424.4(AMER1):c.2946G>A:p.Arg982=	coding	Benign
X	64191037	G	A	G64191037A	AMER1	NM_152424.4(AMER1):c.2250C>T:p.Pro750=	coding	Benign
X	64191102	C	G	C64191102G	AMER1	NM_152424.4(AMER1):c.2185G>C:p.Glu729Gln	coding	Benign
X	64191140	G	C	G64191140C	AMER1	NM_152424.4(AMER1):c.2147C>G:p.Thr716Ser	coding	Benign
X	64191350	C	G	C64191350G	AMER1	NM_152424.4(AMER1):c.1937G>C:p.Arg646Pro	coding	Benign
X	64191485	C	T	C64191485T	AMER1	NM_152424.4(AMER1):c.1802G>A:p.Arg601Gln	coding	Benign
X	64191695	C	T	C64191695T	AMER1	NM_152424.4(AMER1):c.1592G>A:p.Arg531Gln	coding	Benign
X	64191798	G	A	G64191798A	AMER1	NM_152424.4(AMER1):c.1489C>T:p.Arg497Ter	coding	Pathogenic/Likely_pathogenic
X	64191944	A	G	A64191944G	AMER1	NM_152424.4(AMER1):c.1343T>C:p.Leu448Pro	coding	Benign
X	64192079	T	C	T64192079C	AMER1	NM_152424.4(AMER1):c.1208A>G:p.Asp403Gly	coding	Benign
X	64192107	C	A	C64192107A	AMER1	NM_152424.4(AMER1):c.1180G>T:p.Glu394Ter	coding	Pathogenic
X	64192287	C	A	C64192287A	AMER1	NM_152424.4(AMER1):c.1000G>T:p.Glu334Ter	coding	Pathogenic
X	64192369	C	T	C64192369T	AMER1	NM_152424.4(AMER1):c.918G>A:p.Gly306=	coding	Benign
X	64192389	G	T	G64192389T	AMER1	NM_152424.4(AMER1):c.898C>A:p.Pro300Thr	coding	Benign
X	64192418	C	T	C64192418T	AMER1	NM_152424.4(AMER1):c.869G>A:p.Gly290Glu	coding	Benign
X	64192810	A	C	A64192810C	AMER1	NM_152424.4(AMER1):c.477T>G:p.Phe159Leu	coding	Benign
X	64192911	G	A	G64192911A	AMER1	NM_152424.4(AMER1):c.376C>T:p.Gln126Ter	coding	Pathogenic
X	64192972	G	A	G64192972A	AMER1	NM_152424.4(AMER1):c.315C>T:p.Gly105=	coding	Benign
X	64193152	G	A	G64193152A	AMER1	NM_152424.4(AMER1):c.135C>T:p.Ser45=	coding	Benign
X	64193224	A	C	A64193224C	AMER1	NM_152424.4(AMER1):c.63T>G:p.Arg21=	coding	Benign
X	64193225	C	T	C64193225T	AMER1	NM_152424.4(AMER1):c.62G>A:p.Arg21His	coding	Benign
X	64193262	C	G	C64193262G	AMER1	NM_152424.4(AMER1):c.25G>C:p.Ala9Pro	coding	Benign
X	64193455	T	G	T64193455G	AMER1	NM_152424.4(AMER1):c.-98-71A>C	noncoding	Benign
X	64193647	C	T	C64193647T	AMER1	NM_152424.4(AMER1):c.-98-263G>A	noncoding	Benign
X	64917831	C	G	C64917831G	ZC4H2	NM_018684.4(ZC4H2):c.627G>C:p.Lys209Asn	coding	Pathogenic
X	64917883	C	T	C64917883T	ZC4H2	NM_018684.4(ZC4H2):c.575G>A:p.Cys192Tyr	coding	Pathogenic
X	64921812	C	G	C64921812G	ZC4H2	NM_018684.4(ZC4H2):c.225+5G>C	noncoding	Pathogenic
X	64921812	C	T	C64921812T	ZC4H2	NM_018684.4(ZC4H2):c.225+5G>A	noncoding	Pathogenic/Likely_pathogenic
X	64976376	A	G	A64976376G	ZC4H2	NM_018684.4(ZC4H2):c.2T>C:p.Met1Thr	coding	Pathogenic
X	65517833	A	G	A65517833G	LAS1L	NM_031206.7(LAS1L):c.1927+154T>C	noncoding	Benign
X	65523667	T	C	T65523667C	LAS1L	NM_031206.7(LAS1L):c.1341A>G:p.Ala447=	coding	Benign/Likely_benign
X	65524171	C	T	C65524171T	LAS1L	NM_031206.7(LAS1L):c.1185G>A:p.Thr395=	coding	Benign
X	65524242	C	T	C65524242T	LAS1L	NM_031206.7(LAS1L):c.1114G>A:p.Val372Ile	coding	Benign
X	65529252	G	C	G65529252C	LAS1L	NM_031206.7(LAS1L):c.806C>G:p.Ala269Gly	coding	Pathogenic
X	65529630	G	A	G65529630A	LAS1L	NM_031206.7(LAS1L):c.763C>T:p.His255Tyr	coding	Benign
X	65529686	G	A	G65529686A	LAS1L	NM_031206.7(LAS1L):c.707C>T:p.Thr236Met	coding	Benign
X	65532272	A	C	A65532272C	LAS1L	NM_031206.7(LAS1L):c.432+289T>G	noncoding	Benign
X	65532283	T	C	T65532283C	LAS1L	NM_031206.7(LAS1L):c.432+278A>G	noncoding	Benign
X	65532884	A	C	A65532884C	LAS1L	NM_031206.7(LAS1L):c.363-254T>G	noncoding	Benign
X	65534194	G	A	G65534194A	LAS1L	NM_031206.7(LAS1L):c.236+286C>T	noncoding	Benign
X	65534793	G	A	G65534793A	LAS1L	Single_allele	noncoding	Benign
X	65727924	C	A	C65727924A	MSN	NM_002444.3(MSN):c.192+15C>A	noncoding	Benign
X	65729599	G	A	G65729599A	MSN	NM_002444.3(MSN):c.354G>A:p.Pro118=	coding	Benign
X	65731167	T	C	T65731167C	MSN	NM_002444.3(MSN):c.528T>C:p.His176=	coding	Benign
X	65735273	G	A	G65735273A	MSN	NM_002444.3(MSN):c.802G>A:p.Val268Ile	coding	Benign
X	65736781	A	G	A65736781G	MSN	NM_002444.3(MSN):c.960-14A>G	noncoding	Benign
X	65737233	C	G	C65737233G	MSN	NM_002444.3(MSN):c.1146C>G:p.Ala382=	coding	Benign
X	65737290	G	A	G65737290A	MSN	NM_002444.3(MSN):c.1203G>A:p.Glu401=	coding	Benign
X	65738962	C	T	C65738962T	MSN	NM_002444.3(MSN):c.1345-8C>T	noncoding	Benign
X	65739715	A	G	A65739715G	MSN	NM_002444.3(MSN):c.1570-14A>G	noncoding	Benign
X	65739740	G	A	G65739740A	MSN	NM_002444.3(MSN):c.1581G>A:p.Ser527=	coding	Benign
X	65739776	T	C	T65739776C	MSN	NM_002444.3(MSN):c.1617T>C:p.Thr539=	coding	Benign
X	65739830	G	A	G65739830A	MSN	NM_002444.3(MSN):c.1671G>A:p.Lys557=	coding	Benign
X	67545321	C	T	C67545321T	AR	NM_000044.6(AR):c.175C>T:p.Gln59Ter	coding	Pathogenic
X	67545348	C	T	C67545348T	AR	NM_000044.6(AR):c.202C>T:p.Gln68Ter	coding	Pathogenic
X	67545354	C	T	C67545354T	AR	NM_000044.6(AR):c.208C>T:p.Gln70Ter	coding	Pathogenic
X	67545470	G	C	G67545470C	AR	NM_000044.6(AR):c.324G>C:p.Leu108=	coding	Benign/Likely_benign
X	67545504	C	T	C67545504T	AR	NM_000044.6(AR):c.358C>T:p.Gln120Ter	coding	Pathogenic
X	67545960	C	T	C67545960T	AR	NM_000044.6(AR):c.814C>T:p.Leu272Phe	coding	Pathogenic
X	67546171	C	T	C67546171T	AR	NM_000044.6(AR):c.1025C>T:p.Pro342Leu	coding	Pathogenic
X	67546175	T	C	T67546175C	AR	NM_000044.6(AR):c.1029T>C:p.Ser343=	coding	Benign
X	67546209	G	C	G67546209C	AR	NM_000044.6(AR):c.1063G>C:p.Glu355Gln	coding	Pathogenic
X	67546209	G	T	G67546209T	AR	NM_000044.6(AR):c.1063G>T:p.Glu355Ter	coding	Pathogenic
X	67546321	C	G	C67546321G	AR	NM_000044.6(AR):c.1175C>G:p.Pro392Arg	coding	Pathogenic
X	67546341	T	C	T67546341C	AR	NM_000044.6(AR):c.1195T>C:p.Trp399Arg	coding	Pathogenic
X	67546354	C	T	C67546354T	AR	NM_000044.6(AR):c.1208C>T:p.Ala403Val	coding	Pathogenic
X	67546517	C	T	C67546517T	AR	NM_000044.6(AR):c.1371C>T:p.Gly457=	coding	Benign
X	67546608	C	T	C67546608T	AR	NM_000044.6(AR):c.1462C>T:p.Gln488Ter	coding	Pathogenic
X	67546623	C	T	C67546623T	AR	NM_000044.6(AR):c.1477C>T:p.Gln493Ter	coding	Pathogenic
X	67546713	G	T	G67546713T	AR	NM_000044.6(AR):c.1567G>T:p.Glu523Ter	coding	Pathogenic
X	67546774	C	T	C67546774T	AR	NM_000044.6(AR):c.1616+12C>T	noncoding	Benign
X	67568383	G	A	G67568383A	AR	NM_000044.6(AR):c.1616+21621G>A	noncoding	Benign
X	67643001	A	G	A67643001G	AR	NM_000044.6(AR):c.1617-255A>G	noncoding	Benign
X	67643283	G	T	G67643283T	AR	NM_000044.6(AR):c.1644G>T:p.Leu548Phe	coding	Pathogenic
X	67643290	G	C	G67643290C	AR	NM_000044.6(AR):c.1651G>C:p.Asp551His	coding	Pathogenic
X	67643382	G	A	G67643382A	AR	NM_000044.6(AR):c.1743G>A:p.Lys581=	coding	Benign
X	67643385	C	T	C67643385T	AR	NM_000044.6(AR):c.1746C>T:p.Val582=	coding	Benign/Likely_benign
X	67643611	T	G	T67643611G	AR	NM_000044.6(AR):c.1768+204T>G	noncoding	Benign
X	67685999	T	A	T67685999A	AR	NM_000044.6(AR):c.1769-11T>A	noncoding	Pathogenic
X	67686029	C	T	C67686029T	AR	NM_000044.6(AR):c.1788C>T:p.Cys596=	coding	Benign
X	67686033	A	G	A67686033G	AR	NM_000044.6(AR):c.1792A>G:p.Ser598Gly	coding	Pathogenic
X	67686074	T	A	T67686074A	AR	NM_000044.6(AR):c.1833T>A:p.Asn611Lys	coding	Pathogenic
X	67686128	T	G	T67686128G	AR	NM_000044.6(AR):c.1885+2T>G	noncoding	Pathogenic
X	67711195	A	T	A67711195T	AR	NM_000044.6(AR):c.1886-207A>T	noncoding	Benign
X	67711476	G	A	G67711476A	AR	NM_000044.6(AR):c.1960G>A:p.Glu654Lys	coding	Benign
X	67711642	G	A	G67711642A	AR	NM_000044.6(AR):c.2126G>A:p.Gly709Glu	coding	Pathogenic
X	67711686	C	T	C67711686T	AR	NM_000044.6(AR):c.2170C>T:p.Pro724Ser	coding	Pathogenic
X	67717488	C	G	C67717488G	AR	NM_000044.6(AR):c.2184C>G:p.Asn728Lys	coding	Pathogenic
X	67717529	G	T	G67717529T	AR	NM_000044.6(AR):c.2225G>T:p.Trp742Leu	coding	Pathogenic
X	67717530	G	A	G67717530A	AR	NM_000044.6(AR):c.2226G>A:p.Trp742Ter	coding	Pathogenic
X	67717541	T	C	T67717541C	AR	NM_000044.6(AR):c.2237T>C:p.Met746Thr	coding	Pathogenic/Likely_pathogenic
X	67717559	G	A	G67717559A	AR	NM_000044.6(AR):c.2255G>A:p.Trp752Ter	coding	Pathogenic
X	67717865	A	G	A67717865G	AR	NM_000044.6(AR):c.2318+243A>G	noncoding	Benign
X	67717907	A	G	A67717907G	AR	NM_000044.6(AR):c.2318+285A>G	noncoding	Benign
X	67721755	T	G	T67721755G	AR	NM_000044.6(AR):c.2319-78T>G	noncoding	Benign
X	67721852	C	T	C67721852T	AR	NM_000044.6(AR):c.2338C>T:p.Arg780Trp	coding	Pathogenic
X	67721902	A	G	A67721902G	AR	NM_000044.6(AR):c.2388A>G:p.Gly796=	coding	Benign
X	67722783	G	A	G67722783A	AR	NM_000044.6(AR):c.2450-44G>A	noncoding	Benign
X	67722861	T	A	T67722861A	AR	NM_000044.6(AR):c.2484T>A:p.Phe828Leu	coding	Pathogenic
X	67722863	A	T	A67722863T	AR	NM_000044.6(AR):c.2486A>T:p.Asp829Val	coding	Pathogenic
X	67722871	C	G	C67722871G	AR	NM_000044.6(AR):c.2494C>G:p.Arg832Gly	coding	Pathogenic
X	67722871	C	T	C67722871T	AR	NM_000044.6(AR):c.2494C>T:p.Arg832Ter	coding	Pathogenic
X	67722882	C	G	C67722882G	AR	NM_000044.6(AR):c.2505C>G:p.Tyr835Ter	coding	Pathogenic
X	67722889	G	T	G67722889T	AR	NM_000044.6(AR):c.2512G>T:p.Glu838Ter	coding	Pathogenic
X	67722892	C	A	C67722892A	AR	NM_000044.6(AR):c.2515C>A:p.Leu839Ile	coding	Pathogenic
X	67722986	T	G	T67722986G	AR	NM_000044.6(AR):c.2607+2T>G	noncoding	Pathogenic
X	67723004	T	C	T67723004C	AR	NM_000044.6(AR):c.2607+20T>C	noncoding	Benign
X	67723735	A	T	A67723735T	AR	NM_000044.6(AR):c.2657A>T:p.His886Leu	coding	Pathogenic
X	68048175	T	C	T68048175C	OPHN1	NM_002547.3(OPHN1):c.*8+241A>G	noncoding	Benign
X	68053662	C	T	C68053662T	OPHN1	NM_002547.3(OPHN1):c.2307G>A:p.Gly769=	coding	Benign/Likely_benign
X	68053811	C	G	C68053811G	OPHN1	NM_002547.3(OPHN1):c.2159-1G>C	coding	Pathogenic
X	68063950	C	A	C68063950A	OPHN1	NM_002547.3(OPHN1):c.2062G>T:p.Ala688Ser	coding	Benign
X	68064271	G	T	G68064271T	OPHN1	NM_002547.3(OPHN1):c.1835-94C>A	noncoding	Benign
X	68073491	C	T	C68073491T	OPHN1	NM_002547.3(OPHN1):c.1687-192G>A	noncoding	Benign
X	68111874	A	T	A68111874T	OPHN1	NM_002547.3(OPHN1):c.1506T>A:p.Leu502=	coding	Benign/Likely_benign
X	68112090	G	C	G68112090C	OPHN1	NM_002547.3(OPHN1):c.1421-131C>G	noncoding	Benign
X	68112092	G	C	G68112092C	OPHN1	NM_002547.3(OPHN1):c.1421-133C>G	noncoding	Benign
X	68113400	G	A	G68113400A	OPHN1	NM_002547.3(OPHN1):c.1362-161C>T	noncoding	Benign
X	68192770	G	A	G68192770A	OPHN1	NM_002547.3(OPHN1):c.1276+149C>T	noncoding	Benign
X	68193064	G	A	G68193064A	OPHN1	NM_002547.3(OPHN1):c.1202-71C>T	noncoding	Benign
X	68194285	T	C	T68194285C	OPHN1	NM_002547.3(OPHN1):c.1138+180A>G	noncoding	Benign
X	68194385	A	G	A68194385G	OPHN1	NM_002547.3(OPHN1):c.1138+80T>C	noncoding	Benign
X	68194563	A	G	A68194563G	OPHN1	NM_002547.3(OPHN1):c.1105-65T>C	noncoding	Benign
X	68197245	G	A	G68197245A	OPHN1	NM_002547.3(OPHN1):c.1045C>T:p.Gln349Ter	coding	Pathogenic
X	68197390	T	C	T68197390C	OPHN1	NM_002547.3(OPHN1):c.1026-126A>G	noncoding	Benign
X	68197436	C	G	C68197436G	OPHN1	NM_002547.3(OPHN1):c.1026-172G>C	noncoding	Benign
X	68201607	G	A	G68201607A	OPHN1	NM_002547.3(OPHN1):c.1025+12C>T	noncoding	Benign
X	68210137	C	T	C68210137T	OPHN1	NM_002547.3(OPHN1):c.832+16G>A	noncoding	Benign/Likely_benign
X	68212107	C	T	C68212107T	OPHN1	NM_002547.3(OPHN1):c.702+1G>A	noncoding	Pathogenic
X	68213548	G	A	G68213548A	OPHN1	NM_002547.3(OPHN1):c.597+314C>T	noncoding	Benign
X	68213860	A	G	A68213860G	OPHN1	NM_002547.3(OPHN1):c.597+2T>C	noncoding	Pathogenic
X	68274737	C	T	C68274737T	OPHN1	NM_002547.3(OPHN1):c.384+1G>A	noncoding	Pathogenic
X	68274807	T	C	T68274807C	OPHN1	NM_002547.3(OPHN1):c.315A>G:p.Val105=	coding	Benign/Likely_benign
X	68299081	A	T	A68299081T	OPHN1	NM_002547.3(OPHN1):c.170T>A:p.Val57Asp	coding	Pathogenic
X	68299163	A	G	A68299163G	OPHN1	NM_002547.3(OPHN1):c.155-67T>C	noncoding	Benign
X	68828651	T	C	T68828651C	EFNB1	Single_allele	noncoding	Benign
X	68829392	G	T	G68829392T	EFNB1	NM_004429.5(EFNB1):c.-385G>T	noncoding	Benign
X	68829887	G	A	G68829887A	EFNB1	NM_004429.5(EFNB1):c.111G>A:p.Trp37Ter	coding	Pathogenic
X	68830124	C	G	C68830124G	EFNB1	NM_004429.5(EFNB1):c.128+220C>G	noncoding	Benign
X	68830139	C	G	C68830139G	EFNB1	NM_004429.5(EFNB1):c.128+235C>G	noncoding	Benign
X	68838616	G	T	G68838616T	EFNB1	NM_004429.5(EFNB1):c.129-1G>T	noncoding	Pathogenic
X	68840660	C	T	C68840660T	EFNB1	NM_004429.5(EFNB1):c.*6C>T	noncoding	Benign
X	69616309	A	G	A69616309G	EDA	NM_001399.5(EDA):c.1A>G:p.Met1Val	coding	Pathogenic
X	69616368	A	C	A69616368C	EDA	NM_001399.5(EDA):c.60A>C:p.Arg20=	coding	Benign
X	69616440	G	C	G69616440C	EDA	NM_001399.5(EDA):c.132G>C:p.Leu44=	coding	Benign
X	69616531	G	T	G69616531T	EDA	NM_001399.5(EDA):c.223G>T:p.Glu75Ter	coding	Pathogenic
X	69616585	C	T	C69616585T	EDA	NM_001399.5(EDA):c.277C>T:p.Leu93Phe	coding	Benign
X	69957065	A	G	A69957065G	EDA	NM_001399.5(EDA):c.435A>G:p.Pro145=	coding	Benign
X	69957109	G	A	G69957109A	EDA	NM_001399.5(EDA):c.479G>A:p.Ser160Asn	coding	Pathogenic
X	69957142	C	T	C69957142T	EDA	NM_001399.5(EDA):c.502+10C>T	noncoding	Benign
X	70022939	A	G	A70022939G	EDA	NM_001399.5(EDA):c.503-279A>G	noncoding	Benign
X	70023242	G	A	G70023242A	EDA	NM_001399.5(EDA):c.526+1G>A	coding	Pathogenic
X	70023246	G	C	G70023246C	EDA	NM_001399.5(EDA):c.526+5G>C	noncoding	Pathogenic
X	70023251	T	G	T70023251G	EDA	NM_001399.5(EDA):c.526+10T>G	noncoding	Benign
X	70023268	T	A	T70023268A	EDA	NM_001399.5(EDA):c.526+27T>A	noncoding	Benign
X	70023444	C	T	C70023444T	EDA	NM_001399.5(EDA):c.526+203C>T	noncoding	Benign
X	70027932	G	A	G70027932A	EDA	NM_001399.5(EDA):c.602G>A:p.Gly201Glu	coding	Pathogenic
X	70027949	G	A	G70027949A	EDA	NM_001399.5(EDA):c.619G>A:p.Gly207Arg	coding	Pathogenic
X	70027950	G	A	G70027950A	EDA	NM_001399.5(EDA):c.620G>A:p.Gly207Glu	coding	Pathogenic/Likely_pathogenic
X	70027962	C	G	C70027962G	EDA	NM_001399.5(EDA):c.632C>G:p.Thr211Arg	coding	Pathogenic
X	70027973	G	T	G70027973T	EDA	NM_001399.5(EDA):c.643G>T:p.Gly215Ter	coding	Pathogenic
X	70027989	C	T	C70027989T	EDA	NM_001399.5(EDA):c.659C>T:p.Pro220Leu	coding	Pathogenic
X	70029502	A	T	A70029502T	EDA	NM_001399.5(EDA):c.707-2A>T	noncoding	Pathogenic
X	70029514	T	G	T70029514G	EDA	NM_001399.5(EDA):c.717T>G:p.Asp239Glu	coding	Benign
X	70029547	G	A	G70029547A	EDA	NM_001399.5(EDA):c.741+9G>A	noncoding	Benign
X	70029585	G	C	G70029585C	EDA	NM_001399.5(EDA):c.741+47G>C	noncoding	Benign
X	70029663	G	T	G70029663T	EDA	NM_001399.5(EDA):c.741+125G>T	noncoding	Benign
X	70029706	C	T	C70029706T	EDA	NM_001399.5(EDA):c.741+168C>T	noncoding	Benign
X	70033387	C	T	C70033387T	EDA	NM_001399.5(EDA):c.794-11C>T	noncoding	Benign
X	70033404	C	G	C70033404G	EDA	NM_001399.5(EDA):c.800C>G:p.Ser267Ter	coding	Pathogenic
X	70033405	A	G	A70033405G	EDA	NM_001399.5(EDA):c.801A>G:p.Ser267=	coding	Pathogenic
X	70033431	G	T	G70033431T	EDA	NM_001399.5(EDA):c.827G>T:p.Arg276Leu	coding	Pathogenic/Likely_pathogenic
X	70033437	C	G	C70033437G	EDA	NM_001399.5(EDA):c.833C>G:p.Thr278Ser	coding	Benign
X	70033441	G	A	G70033441A	EDA	NM_001399.5(EDA):c.837G>A:p.Met279Ile	coding	Pathogenic
X	70033469	C	T	C70033469T	EDA	NM_001399.5(EDA):c.865C>T:p.Arg289Cys	coding	Pathogenic
X	70033483	G	A	G70033483A	EDA	NM_001399.5(EDA):c.879G>A:p.Leu293=	coding	Benign
X	70033499	G	A	G70033499A	EDA	NM_001399.5(EDA):c.895G>A:p.Gly299Ser	coding	Pathogenic
X	70033500	G	A	G70033500A	EDA	NM_001399.5(EDA):c.896G>A:p.Gly299Asp	coding	Pathogenic
X	70033520	C	T	C70033520T	EDA	NM_001399.5(EDA):c.916C>T:p.Gln306Ter	coding	Pathogenic
X	70033529	G	A	G70033529A	EDA	NM_001399.5(EDA):c.924+1G>A	coding	Pathogenic
X	70033566	G	A	G70033566A	EDA	NM_001399.5(EDA):c.924+38G>A	noncoding	Benign
X	70033573	G	A	G70033573A	EDA	NM_001399.5(EDA):c.924+45G>A	noncoding	Benign
X	70033738	T	C	T70033738C	EDA	NM_001399.5(EDA):c.924+210T>C	noncoding	Benign
X	70033743	C	A	C70033743A	EDA	NM_001399.5(EDA):c.924+215C>A	noncoding	Benign
X	70033747	T	A	T70033747A	EDA	NM_001399.5(EDA):c.924+219T>A	noncoding	Benign
X	70035062	A	G	A70035062G	EDA	NM_001399.5(EDA):c.925-296A>G	noncoding	Benign
X	70035362	A	G	A70035362G	EDA	NM_001399.5(EDA):c.929A>G:p.Tyr310Cys	coding	Pathogenic
X	70035419	T	C	T70035419C	EDA	NM_001399.5(EDA):c.986T>C:p.Phe329Ser	coding	Pathogenic
X	70035442	G	T	G70035442T	EDA	NM_001399.5(EDA):c.1009G>T:p.Glu337Ter	coding	Pathogenic
X	70035516	C	T	C70035516T	EDA	NM_001399.5(EDA):c.1083C>T:p.Ala361=	coding	Benign
X	70035531	C	T	C70035531T	EDA	NM_001399.5(EDA):c.1098C>T:p.His366=	coding	Benign
X	70035557	A	G	A70035557G	EDA	NM_001399.5(EDA):c.1124A>G:p.Lys375Arg	coding	Benign
X	70035569	T	C	T70035569C	EDA	NM_001399.5(EDA):c.1136T>C:p.Phe379Ser	coding	Pathogenic
X	70035643	C	T	C70035643T	EDA	NM_001399.5(EDA):c.*34C>T	noncoding	Benign
X	70150481	T	C	T70150481C	IGBP1	NM_001551.3(IGBP1):c.871+159T>C	noncoding	Benign
X	70150534	T	G	T70150534G	IGBP1	NM_001551.3(IGBP1):c.871+212T>G	noncoding	Benign
X	70165625	T	C	T70165625C	IGBP1	NM_001551.3(IGBP1):c.872-208T>C	noncoding	Benign
X	70276150	C	T	C70276150T	ARR3	NM_004312.3(ARR3):c.214C>T:p.Arg72Ter	coding	Pathogenic
X	70290485	C	T	C70290485T	KIF4A	NM_012310.5(KIF4A):c.27C>T:p.Pro9=	coding	Benign
X	70330230	A	G	A70330230G	KIF4A	NM_012310.5(KIF4A):c.969A>G:p.Thr323=	coding	Benign
X	70330248	T	C	T70330248C	KIF4A	NM_012310.5(KIF4A):c.987T>C:p.Tyr329=	coding	Benign
X	70406889	C	T	C70406889T	KIF4A	NM_012310.5(KIF4A):c.3073-4C>T	noncoding	Benign
X	70418015	G	T	G70418015T	KIF4A	NM_012310.5(KIF4A):c.3372+11G>T	noncoding	Benign
X	70444587	G	T	G70444587T	DLG3	Single_allele	noncoding	Benign
X	70444654	A	G	A70444654G	DLG3	Single_allele	noncoding	Benign
X	70444663	T	A	T70444663A	DLG3	Single_allele	noncoding	Benign
X	70448613	A	G	A70448613G	DLG3	NM_021120.4(DLG3):c.358-300A>G	noncoding	Benign
X	70450331	C	T	C70450331T	DLG3	NM_021120.4(DLG3):c.840+26C>T	noncoding	Benign
X	70450462	A	T	A70450462T	DLG3	NM_021120.4(DLG3):c.840+157A>T	noncoding	Benign
X	70450788	G	A	G70450788A	DLG3	NM_021120.4(DLG3):c.985+5G>A	noncoding	Pathogenic
X	70452805	T	C	T70452805C	DLG3	NM_021120.4(DLG3):c.1145+779T>C	noncoding	Benign
X	70453614	C	T	C70453614T	DLG3	NM_021120.4(DLG3):c.1146-23C>T	noncoding	Benign
X	70453771	G	A	G70453771A	DLG3	NM_021120.4(DLG3):c.1280G>A:p.Arg427His	coding	Benign
X	70453794	G	A	G70453794A	DLG3	NM_021120.4(DLG3):c.1302+1G>A	coding	Pathogenic
X	70453961	T	C	T70453961C	DLG3	NM_021120.4(DLG3):c.1302+168T>C	noncoding	Benign
X	70454052	T	G	T70454052G	DLG3	NM_021120.4(DLG3):c.1303-162T>G	noncoding	Benign
X	70478804	A	T	A70478804T	DLG3	NM_021120.4(DLG3):c.1406-346A>T	noncoding	Benign
X	70478873	C	T	C70478873T	DLG3	NM_021120.4(DLG3):c.1406-277C>T	noncoding	Benign
X	70496877	G	C	G70496877C	DLG3	NM_021120.4(DLG3):c.1819+1424G>C	noncoding	Benign
X	70498464	C	T	C70498464T	DLG3	NM_021120.4(DLG3):c.1820-56C>T	noncoding	Benign
X	70498597	T	C	T70498597C	DLG3	NM_021120.4(DLG3):c.1870+27T>C	noncoding	Benign
X	70499725	C	T	C70499725T	DLG3	NM_021120.4(DLG3):c.1973-152C>T	noncoding	Benign
X	70499939	C	T	C70499939T	DLG3	NM_021120.4(DLG3):c.2035C>T:p.Arg679Ter	coding	Pathogenic/Likely_pathogenic
X	70500322	C	G	C70500322G	DLG3	NM_021120.4(DLG3):c.2146-149C>G	noncoding	Benign
X	70500908	C	T	C70500908T	DLG3	NM_021120.4(DLG3):c.2266C>T:p.Arg756Ter	coding	Pathogenic
X	70529952	C	A	C70529952A	TEX11	NM_031276.3(TEX11):c.2568G>T:p.Trp856Cys	coding	Pathogenic
X	70554698	A	G	A70554698G	TEX11	NM_031276.3(TEX11):c.2243T>C:p.Val748Ala	coding	Benign/Likely_benign
X	70623948	A	C	A70623948C	TEX11	NM_031276.3(TEX11):c.1751+2T>G	noncoding	Pathogenic
X	70651553	C	T	C70651553T	TEX11	NM_031276.3(TEX11):c.1381-1G>A	coding	Pathogenic
X	70682824	C	A	C70682824A	TEX11	NM_031276.3(TEX11):c.1006G>T:p.Glu336Ter	coding	Pathogenic
X	71107844	C	T	C71107844T	IL2RG	NM_000206.3(IL2RG):c.1002G>A:p.Glu334=	coding	Benign
X	71107869	C	T	C71107869T	IL2RG	NM_000206.3(IL2RG):c.977G>A:p.Ser326Asn	coding	Benign
X	71107871	G	A	G71107871A	IL2RG	NM_000206.3(IL2RG):c.975C>T:p.Tyr325=	coding	Benign
X	71108289	G	A	G71108289A	IL2RG	NM_000206.3(IL2RG):c.912C>T:p.His304=	coding	Benign
X	71108344	G	A	G71108344A	IL2RG	NM_000206.3(IL2RG):c.857C>T:p.Thr286Met	coding	Benign
X	71108348	T	G	T71108348G	IL2RG	NM_000206.3(IL2RG):c.855-2A>C	noncoding	Pathogenic
X	71108655	A	G	A71108655G	IL2RG	NM_000206.3(IL2RG):c.798T>C:p.Ser266=	coding	Benign
X	71108697	T	C	T71108697C	IL2RG	NM_000206.3(IL2RG):c.758-2A>G	noncoding	Pathogenic/Likely_pathogenic
X	71108711	A	G	A71108711G	IL2RG	NM_000206.3(IL2RG):c.758-16T>C	noncoding	Benign
X	71109231	T	C	T71109231C	IL2RG	NM_000206.3(IL2RG):c.754A>G:p.Lys252Glu	coding	Benign
X	71109247	C	T	C71109247T	IL2RG	NM_000206.3(IL2RG):c.738G>A:p.Trp246Ter	coding	Pathogenic
X	71109272	C	T	C71109272T	IL2RG	NM_000206.3(IL2RG):c.713G>A:p.Ser238Asn	coding	Pathogenic
X	71109277	A	G	A71109277G	IL2RG	NM_000206.3(IL2RG):c.708T>C:p.His236=	coding	Benign
X	71109326	G	A	G71109326A	IL2RG	NM_000206.3(IL2RG):c.659C>T:p.Thr220Met	coding	Benign
X	71109373	A	T	A71109373T	IL2RG	NM_000206.3(IL2RG):c.612T>A:p.Tyr204Ter	coding	Pathogenic
X	71109385	T	G	T71109385G	IL2RG	NM_000206.3(IL2RG):c.600A>C:p.Gln200His	coding	Benign
X	71109387	G	A	G71109387A	IL2RG	NM_000206.3(IL2RG):c.598C>T:p.Gln200Ter	coding	Pathogenic
X	71109942	A	G	A71109942G	IL2RG	NM_000206.3(IL2RG):c.594+214T>C	noncoding	Benign
X	71110183	G	A	G71110183A	IL2RG	NM_000206.3(IL2RG):c.567C>T:p.Tyr189=	coding	Benign
X	71110551	C	T	C71110551T	IL2RG	NM_000206.3(IL2RG):c.407G>A:p.Arg136Gln	coding	Benign
X	71110610	C	A	C71110610A	IL2RG	NM_000206.3(IL2RG):c.348G>T:p.Gln116His	coding	Benign
X	71110630	C	A	C71110630A	IL2RG	NM_000206.3(IL2RG):c.328G>T:p.Glu110Ter	coding	Pathogenic
X	71110644	T	C	T71110644C	IL2RG	NM_000206.3(IL2RG):c.314A>G:p.Tyr105Cys	coding	Pathogenic/Likely_pathogenic
X	71110880	C	T	C71110880T	IL2RG	NM_000206.3(IL2RG):c.269+17G>A	noncoding	Benign
X	71110896	C	A	C71110896A	IL2RG	NM_000206.3(IL2RG):c.269+1G>T	noncoding	Pathogenic/Likely_pathogenic
X	71110950	G	T	G71110950T	IL2RG	NM_000206.3(IL2RG):c.216C>A:p.Cys72Ter	coding	Pathogenic
X	71111423	A	G	A71111423G	IL2RG	NM_000206.3(IL2RG):c.115+2T>C	noncoding	Pathogenic
X	71111424	C	A	C71111424A	IL2RG	NM_000206.3(IL2RG):c.115+1G>T	noncoding	Pathogenic
X	71111465	C	T	C71111465T	IL2RG	NM_000206.3(IL2RG):c.75G>A:p.Thr25=	coding	Benign
X	71111471	C	T	C71111471T	IL2RG	NM_000206.3(IL2RG):c.69G>A:p.Leu23=	coding	Benign
X	71119309	A	G	A71119309G	MED12	NM_005120.3(MED12):c.100-64A>G	noncoding	Benign
X	71119456	C	T	C71119456T	MED12	NM_005120.3(MED12):c.183C>T:p.Asn61=	coding	Benign/Likely_benign
X	71119535	G	C	G71119535C	MED12	NM_005120.3(MED12):c.204+58G>C	noncoding	Benign
X	71119666	G	A	G71119666A	MED12	NM_005120.3(MED12):c.205-20G>A	noncoding	Benign
X	71119802	A	C	A71119802C	MED12	NM_005120.3(MED12):c.321A>C:p.Ala107=	coding	Benign
X	71119975	G	A	G71119975A	MED12	NM_005120.3(MED12):c.397-39G>A	noncoding	Benign
X	71120131	G	C	G71120131C	MED12	NM_005120.3(MED12):c.514G>C:p.Glu172Gln	coding	Pathogenic
X	71120950	C	A	C71120950A	MED12	NM_005120.3(MED12):c.554-21C>A	noncoding	Benign
X	71120955	T	A	T71120955A	MED12	NM_005120.3(MED12):c.554-16T>A	noncoding	Benign
X	71121313	C	G	C71121313G	MED12	NM_005120.3(MED12):c.736-14C>G	noncoding	Benign/Likely_benign
X	71121474	G	A	G71121474A	MED12	NM_005120.3(MED12):c.846+37G>A	noncoding	Benign
X	71121696	G	A	G71121696A	MED12	NM_005120.3(MED12):c.981G>A:p.Thr327=	coding	Benign
X	71121746	C	A	C71121746A	MED12	NM_005120.3(MED12):c.1031C>A:p.Thr344Asn	coding	Benign/Likely_benign
X	71122179	T	C	T71122179C	MED12	NM_005120.3(MED12):c.1102-21T>C	noncoding	Benign
X	71122301	G	A	G71122301A	MED12	NM_005120.3(MED12):c.1203G>A:p.Pro401=	coding	Benign/Likely_benign
X	71122508	G	A	G71122508A	MED12	NM_005120.3(MED12):c.1249G>A:p.Val417Ile	coding	Pathogenic
X	71122625	G	A	G71122625A	MED12	NM_005120.3(MED12):c.1348+18G>A	noncoding	Benign/Likely_benign
X	71123156	G	A	G71123156A	MED12	NM_005120.3(MED12):c.1547G>A:p.Arg516His	coding	Pathogenic
X	71124208	G	A	G71124208A	MED12	NM_005120.3(MED12):c.1794G>A:p.Leu598=	coding	Benign
X	71124370	C	T	C71124370T	MED12	NM_005120.3(MED12):c.1956C>T:p.Ser652=	coding	Benign/Likely_benign
X	71124403	C	T	C71124403T	MED12	NM_005120.3(MED12):c.1974+15C>T	noncoding	Benign
X	71124863	G	A	G71124863A	MED12	NM_005120.3(MED12):c.2055+19G>A	noncoding	Benign
X	71125114	G	A	G71125114A	MED12	NM_005120.3(MED12):c.2194G>A:p.Val732Met	coding	Benign
X	71125122	C	T	C71125122T	MED12	NM_005120.3(MED12):c.2202C>T:p.Tyr734=	coding	Benign
X	71125144	C	T	C71125144T	MED12	NM_005120.3(MED12):c.2224C>T:p.Gln742Ter	coding	Pathogenic
X	71125395	G	A	G71125395A	MED12	NM_005120.3(MED12):c.2271G>A:p.Leu757=	coding	Benign/Likely_benign
X	71125404	G	A	G71125404A	MED12	NM_005120.3(MED12):c.2280G>A:p.Val760=	coding	Benign
X	71125729	C	A	C71125729A	MED12	NM_005120.3(MED12):c.2422+16C>A	noncoding	Benign
X	71125985	C	G	C71125985G	MED12	NM_005120.3(MED12):c.2423-51C>G	noncoding	Benign
X	71125998	T	C	T71125998C	MED12	NM_005120.3(MED12):c.2423-38T>C	noncoding	Benign
X	71126097	T	C	T71126097C	MED12	NM_005120.3(MED12):c.2484T>C:p.Asp828=	coding	Benign
X	71126501	G	T	G71126501T	MED12	NM_005120.3(MED12):c.2685+17G>T	noncoding	Benign
X	71126954	C	T	C71126954T	MED12	NM_005120.3(MED12):c.2686-15C>T	noncoding	Benign
X	71127004	G	A	G71127004A	MED12	NM_005120.3(MED12):c.2721G>A:p.Leu907=	coding	Benign
X	71127031	C	A	C71127031A	MED12	NM_005120.3(MED12):c.2748C>A:p.Gly916=	coding	Benign/Likely_benign
X	71127309	C	T	C71127309T	MED12	NM_005120.3(MED12):c.2850-27C>T	noncoding	Benign
X	71128022	G	A	G71128022A	MED12	NM_005120.3(MED12):c.3111G>A:p.Thr1037=	coding	Benign/Likely_benign
X	71128155	C	T	C71128155T	MED12	NM_005120.3(MED12):c.3209+35C>T	noncoding	Benign
X	71128165	A	T	A71128165T	MED12	NM_005120.3(MED12):c.3209+45A>T	noncoding	Benign
X	71128392	C	T	C71128392T	MED12	NM_005120.3(MED12):c.3306C>T:p.Ser1102=	coding	Benign
X	71128600	C	T	C71128600T	MED12	NM_005120.3(MED12):c.3357C>T:p.Val1119=	coding	Benign/Likely_benign
X	71128624	G	T	G71128624T	MED12	NM_005120.3(MED12):c.3381G>T:p.Ser1127=	coding	Benign/Likely_benign
X	71129205	G	T	G71129205T	MED12	NM_005120.3(MED12):c.3567G>T:p.Gln1189His	coding	Benign
X	71129347	C	T	C71129347T	MED12	NM_005120.3(MED12):c.3609C>T:p.Cys1203=	coding	Benign
X	71129384	G	A	G71129384A	MED12	NM_005120.3(MED12):c.3646G>A:p.Val1216Met	coding	Pathogenic/Likely_pathogenic
X	71129467	A	G	A71129467G	MED12	NM_005120.3(MED12):c.3691+38A>G	noncoding	Benign
X	71129897	G	A	G71129897A	MED12	NM_005120.3(MED12):c.3867+42G>A	noncoding	Benign
X	71131572	G	A	G71131572A	MED12	NM_005120.3(MED12):c.4070G>A:p.Arg1357His	coding	Pathogenic
X	71131579	T	G	T71131579G	MED12	NM_005120.3(MED12):c.4077T>G:p.Ser1359=	coding	Benign
X	71131617	A	G	A71131617G	MED12	NM_005120.3(MED12):c.4115A>G:p.Asn1372Ser	coding	Benign/Likely_benign
X	71131988	C	T	C71131988T	MED12	NM_005120.3(MED12):c.4120-85C>T	noncoding	Benign
X	71132114	C	T	C71132114T	MED12	NM_005120.3(MED12):c.4161C>T:p.Ile1387=	coding	Benign/Likely_benign
X	71132222	G	A	G71132222A	MED12	NM_005120.3(MED12):c.4253+16G>A	noncoding	Benign
X	71132422	T	C	T71132422C	MED12	NM_005120.3(MED12):c.4299T>C:p.Ala1433=	coding	Benign/Likely_benign
X	71132482	G	A	G71132482A	MED12	NM_005120.3(MED12):c.4359G>A:p.Lys1453=	coding	Benign/Likely_benign
X	71132503	T	C	T71132503C	MED12	NM_005120.3(MED12):c.4380T>C:p.Ser1460=	coding	Benign
X	71132797	T	C	T71132797C	MED12	NM_005120.3(MED12):c.4416-48T>C	noncoding	Benign/Likely_benign
X	71132830	T	C	T71132830C	MED12	NM_005120.3(MED12):c.4416-15T>C	noncoding	Benign/Likely_benign
X	71133104	T	C	T71133104C	MED12	NM_005120.3(MED12):c.4528-19T>C	noncoding	Benign/Likely_benign
X	71133237	A	G	A71133237G	MED12	NM_005120.3(MED12):c.4617+25A>G	noncoding	Benign
X	71133263	G	A	G71133263A	MED12	NM_005120.3(MED12):c.4617+51G>A	noncoding	Benign
X	71134252	C	A	C71134252A	MED12	NM_005120.3(MED12):c.4618-105C>A	noncoding	Benign
X	71134404	G	A	G71134404A	MED12	NM_005120.3(MED12):c.4665G>A:p.Thr1555=	coding	Benign/Likely_benign
X	71134791	G	A	G71134791A	MED12	NM_005120.3(MED12):c.4806G>A:p.Ser1602=	coding	Benign
X	71134816	C	T	C71134816T	MED12	NM_005120.3(MED12):c.4831C>T:p.Arg1611Cys	coding	Pathogenic/Likely_pathogenic
X	71134836	G	A	G71134836A	MED12	NM_005120.3(MED12):c.4851G>A:p.Ala1617=	coding	Benign/Likely_benign
X	71134863	C	T	C71134863T	MED12	NM_005120.3(MED12):c.4863+15C>T	noncoding	Benign/Likely_benign
X	71134864	G	A	G71134864A	MED12	NM_005120.3(MED12):c.4863+16G>A	noncoding	Benign
X	71135038	C	T	C71135038T	MED12	NM_005120.3(MED12):c.4864-54C>T	noncoding	Benign
X	71136358	T	C	T71136358C	MED12	NM_005120.3(MED12):c.5103T>C:p.Ser1701=	coding	Benign/Likely_benign
X	71136366	G	A	G71136366A	MED12	NM_005120.3(MED12):c.5111G>A:p.Trp1704Ter	coding	Pathogenic
X	71136445	G	C	G71136445C	MED12	NM_005120.3(MED12):c.5190G>C:p.Leu1730=	coding	Benign/Likely_benign
X	71136699	C	G	C71136699G	MED12	NM_005120.3(MED12):c.5400+44C>G	noncoding	Benign
X	71136854	C	T	C71136854T	MED12	NM_005120.3(MED12):c.5401-25C>T	noncoding	Benign/Likely_benign
X	71137196	G	A	G71137196A	MED12	NM_005120.3(MED12):c.5561G>A:p.Arg1854His	coding	Benign
X	71137228	A	G	A71137228G	MED12	NM_005120.3(MED12):c.5593A>G:p.Met1865Val	coding	Benign/Likely_benign
X	71137257	C	A	C71137257A	MED12	NM_005120.3(MED12):c.5622C>A:p.Tyr1874Ter	coding	Pathogenic
X	71137584	A	G	A71137584G	MED12	NM_005120.3(MED12):c.5775A>G:p.Ser1925=	coding	Benign/Likely_benign
X	71137617	C	G	C71137617G	MED12	NM_005120.3(MED12):c.5808C>G:p.Tyr1936Ter	coding	Pathogenic
X	71137618	G	A	G71137618A	MED12	NM_005120.3(MED12):c.5809G>A:p.Gly1937Ser	coding	Benign/Likely_benign
X	71137902	G	A	G71137902A	MED12	NM_005120.3(MED12):c.6003G>A:p.Gln2001=	coding	Benign/Likely_benign
X	71137936	A	C	A71137936C	MED12	NM_005120.3(MED12):c.6037A>C:p.Thr2013Pro	coding	Benign
X	71140585	C	T	C71140585T	MED12	NM_005120.3(MED12):c.6045-50C>T	noncoding	Benign
X	71140662	A	T	A71140662T	MED12	NM_005120.3(MED12):c.6072A>T:p.Thr2024=	coding	Benign/Likely_benign
X	71140702	G	A	G71140702A	MED12	NM_005120.3(MED12):c.6112G>A:p.Val2038Ile	coding	Benign
X	71140825	A	G	A71140825G	MED12	NM_005120.3(MED12):c.6235A>G:p.Ile2079Val	coding	Benign
X	71141305	C	T	C71141305T	MED12	NM_005120.3(MED12):c.6343C>T:p.Gln2115Ter	coding	Pathogenic
X	71141371	G	A	G71141371A	MED12	NM_005120.3(MED12):c.6408+1G>A	coding	Pathogenic/Likely_pathogenic
X	71141423	C	T	C71141423T	MED12	NM_005120.3(MED12):c.6408+53C>T	noncoding	Benign
X	71142016	C	T	C71142016T	MED12	NM_005120.3(MED12):c.6490+52C>T	noncoding	Benign
X	71142135	G	A	G71142135A	MED12	NM_005120.3(MED12):c.6491-40G>A	noncoding	Benign
X	71155247	T	C	T71155247C	NLGN3	NM_181303.2(NLGN3):c.611T>C:p.Val204Ala	coding	Pathogenic
X	71169590	C	T	C71169590T	NLGN3	NM_181303.2(NLGN3):c.2040C>T:p.Asn680_Glu681=	coding	Benign
X	71223179	T	G	T71223179G	GJB1	NM_001097642.3(GJB1):c.-16-513T>G	noncoding	Pathogenic
X	71223181	G	C	G71223181C	GJB1	NM_001097642.3(GJB1):c.-16-511G>C	noncoding	Pathogenic
X	71223335	G	A	G71223335A	GJB1	NM_000166.6(GJB1):c.-17G>A	noncoding	Pathogenic/Likely_pathogenic
X	71223709	T	C	T71223709C	GJB1	NM_000166.6(GJB1):c.2T>C:p.Met1Thr	coding	Pathogenic
X	71223753	C	G	C71223753G	GJB1	NM_000166.6(GJB1):c.46C>G:p.His16Asp	coding	Pathogenic
X	71223754	A	T	A71223754T	GJB1	NM_000166.6(GJB1):c.47A>T:p.His16Leu	coding	Pathogenic
X	71223785	G	A	G71223785A	GJB1	NM_000166.6(GJB1):c.78G>A:p.Ser26=	coding	Benign
X	71223885	T	C	T71223885C	GJB1	NM_000166.6(GJB1):c.178T>C:p.Cys60Arg	coding	Pathogenic/Likely_pathogenic
X	71223902	T	G	T71223902G	GJB1	NM_000166.6(GJB1):c.195T>G:p.Tyr65Ter	coding	Pathogenic
X	71223967	C	T	C71223967T	GJB1	NM_000166.6(GJB1):c.260C>T:p.Pro87Leu	coding	Pathogenic
X	71223994	C	G	C71223994G	GJB1	NM_000166.6(GJB1):c.287C>G:p.Ala96Gly	coding	Pathogenic
X	71223999	C	T	C71223999T	GJB1	NM_000166.6(GJB1):c.292C>T:p.Gln98Ter	coding	Pathogenic
X	71224102	G	A	G71224102A	GJB1	NM_000166.6(GJB1):c.395G>A:p.Trp132Ter	coding	Pathogenic
X	71224123	T	G	T71224123G	GJB1	NM_000166.6(GJB1):c.416T>G:p.Val139Gly	coding	Pathogenic
X	71224149	G	A	G71224149A	GJB1	NM_000166.6(GJB1):c.442G>A:p.Val148Ile	coding	Benign
X	71224185	T	C	T71224185C	GJB1	NM_000166.6(GJB1):c.478T>C:p.Tyr160His	coding	Pathogenic/Likely_pathogenic
X	71224201	T	A	T71224201A	GJB1	NM_000166.6(GJB1):c.494T>A:p.Leu165Gln	coding	Pathogenic
X	71224211	C	T	C71224211T	GJB1	NM_000166.6(GJB1):c.504C>T:p.Cys168=	coding	Benign
X	71224225	G	T	G71224225T	GJB1	NM_000166.6(GJB1):c.518G>T:p.Cys173Phe	coding	Pathogenic
X	71224273	T	G	T71224273G	GJB1	NM_000166.6(GJB1):c.566T>G:p.Val189Gly	coding	Pathogenic/Likely_pathogenic
X	71224317	C	G	C71224317G	GJB1	NM_000166.6(GJB1):c.610C>G:p.Leu204Val	coding	Pathogenic
X	71224412	C	T	C71224412T	GJB1	NM_000166.6(GJB1):c.705C>T:p.Phe235=	coding	Benign
X	71224550	G	A	G71224550A	GJB1	NM_000166.6(GJB1):c.843G>A:p.Ser281=	coding	Benign
X	71224556	C	T	C71224556T	GJB1	NM_000166.6(GJB1):c.849C>T:p.Cys283=	coding	Benign
X	71290802	G	C	G71290802C	NONO	NM_007363.5(NONO):c.154+11G>C	noncoding	Benign
X	71290941	G	C	G71290941C	NONO	NM_007363.5(NONO):c.154+150G>C	noncoding	Benign
X	71294241	A	G	A71294241G	NONO	NM_007363.5(NONO):c.363A>G:p.Leu121=	coding	Benign
X	71296841	T	C	T71296841C	NONO	NM_007363.5(NONO):c.747-10T>C	noncoding	Benign
X	71297821	G	A	G71297821A	NONO	NM_007363.5(NONO):c.1029-15G>A	noncoding	Benign
X	71297939	G	A	G71297939A	NONO	NM_007363.5(NONO):c.1131+1G>A	coding	Pathogenic
X	71297946	T	C	T71297946C	NONO	NM_007363.5(NONO):c.1131+8T>C	noncoding	Benign
X	71298396	T	C	T71298396C	NONO	NM_007363.5(NONO):c.1132-73T>C	noncoding	Benign
X	71375242	C	T	C71375242T	TAF1	NM_004606.5(TAF1):c.428C>T:p.Pro143Leu	coding	Pathogenic/Likely_pathogenic
X	71375282	T	C	T71375282C	TAF1	NM_004606.5(TAF1):c.468T>C:p.Thr156=	coding	Benign
X	71375419	G	A	G71375419A	TAF1	NM_004606.5(TAF1):c.472+133G>A	noncoding	Benign
X	71381836	T	A	T71381836A	TAF1	NM_004606.5(TAF1):c.1454T>A:p.Ile485Asn	coding	Pathogenic
X	71381855	C	G	C71381855G	TAF1	NM_004606.5(TAF1):c.1473C>G:p.Ala491=	coding	Benign
X	71384191	T	G	T71384191G	TAF1	NM_004606.5(TAF1):c.2121+56T>G	noncoding	Benign
X	71389715	C	T	C71389715T	TAF1	NM_004606.5(TAF1):c.2781+50C>T	noncoding	Benign
X	71392456	A	C	A71392456C	TAF1	NM_004606.5(TAF1):c.2782-113A>C	noncoding	Benign
X	71397593	A	G	A71397593G	TAF1	NM_004606.5(TAF1):c.3620+127A>G	noncoding	Benign
X	71398627	C	T	C71398627T	TAF1	NM_004606.5(TAF1):c.3676C>T:p.Arg1226Trp	coding	Pathogenic/Likely_pathogenic
X	71407627	G	A	G71407627A	TAF1	NM_004606.5(TAF1):c.4161G>A:p.Ser1387=	coding	Benign
X	71408062	G	A	G71408062A	TAF1	NM_004606.5(TAF1):c.4295G>A:p.Arg1432His	coding	Pathogenic
X	71421171	G	A	G71421171A	TAF1	NM_004606.5(TAF1):c.4385-138G>A	noncoding	Benign
X	71423153	A	C	A71423153C	TAF1	NM_004606.5(TAF1):c.4489A>C:p.Asn1497His	coding	Pathogenic/Likely_pathogenic
X	71458448	T	C	T71458448C	TAF1	NM_004606.5(TAF1):c.5064+82T>C	noncoding	Benign
X	71555852	A	G	A71555852G	OGT	NM_181672.3(OGT):c.925-102A>G	noncoding	Benign
X	71557585	G	A	G71557585A	OGT	NM_181672.3(OGT):c.1515G>A:p.Val505=	coding	Benign
X	71561807	C	T	C71561807T	OGT	NM_181672.3(OGT):c.1884C>T:p.Ile628=	coding	Benign
X	71563516	A	G	A71563516G	OGT	NM_181672.3(OGT):c.2436+17A>G	noncoding	Benign
X	71567562	T	G	T71567562G	OGT	NM_181672.3(OGT):c.2652T>G:p.Pro884=	coding	Benign
X	71604457	G	T	G71604457T	GCNA	NM_052957.5(GCNA):c.1180G>T:p.Glu394Ter	coding	Pathogenic
X	72130283	T	G	T72130283G	RTL5	NM_001013627.3(NHSL2):c.281-1796T>G	coding	Benign
X	72330118	T	C	T72330118C	HDAC8	NM_018486.3(HDAC8):c.1112-42A>G	noncoding	Benign
X	72351717	G	A	G72351717A	HDAC8	NM_018486.3(HDAC8):c.1111+16C>T	noncoding	Benign
X	72351724	G	A	G72351724A	HDAC8	NM_018486.3(HDAC8):c.1111+9C>T	noncoding	Benign
X	72351762	C	T	C72351762T	HDAC8	NM_018486.3(HDAC8):c.1082G>A:p.Arg361Gln	coding	Benign
X	72351797	C	T	C72351797T	HDAC8	NM_018486.3(HDAC8):c.1047G>A:p.Thr349=	coding	Benign/Likely_benign
X	72462025	G	A	G72462025A	HDAC8	NM_018486.3(HDAC8):c.984C>T:p.Ser328=	coding	Benign
X	72464542	C	A	C72464542A	HDAC8	NM_018486.3(HDAC8):c.910+17G>T	noncoding	Benign
X	72464588	C	T	C72464588T	HDAC8	NM_018486.3(HDAC8):c.881G>A:p.Trp294Ter	coding	Pathogenic
X	72495215	C	T	C72495215T	HDAC8	NM_018486.3(HDAC8):c.491G>A:p.Arg164Gln	coding	Benign/Likely_benign
X	72495235	A	C	A72495235C	HDAC8	NM_018486.3(HDAC8):c.471T>G:p.Asp157Glu	coding	Pathogenic
X	72495240	T	C	T72495240C	HDAC8	NM_018486.3(HDAC8):c.466A>G:p.Asn156Asp	coding	Pathogenic/Likely_pathogenic
X	72495285	T	C	T72495285C	HDAC8	NM_018486.3(HDAC8):c.438-17A>G	noncoding	Benign
X	72495597	G	T	G72495597T	HDAC8	NM_018486.3(HDAC8):c.438-329C>A	noncoding	Benign
X	72567954	T	C	T72567954C	HDAC8	NM_018486.3(HDAC8):c.372A>G:p.Gln124=	coding	Benign
X	72567969	C	T	C72567969T	HDAC8	NM_018486.3(HDAC8):c.357G>A:p.Thr119=	coding	Benign
X	72567970	G	C	G72567970C	HDAC8	NM_018486.3(HDAC8):c.356C>G:p.Thr119Arg	coding	Pathogenic
X	72568741	G	A	G72568741A	HDAC8	NM_018486.3(HDAC8):c.295+13C>T	noncoding	Benign
X	72572038	T	A	T72572038A	HDAC8	NM_018486.3(HDAC8):c.164+19A>T	noncoding	Benign
X	72572605	A	C	A72572605C	HDAC8	NM_018486.3(HDAC8):c.111+46T>G	noncoding	Benign
X	72572631	T	G	T72572631G	HDAC8	NM_018486.3(HDAC8):c.111+20A>C	noncoding	Benign
X	72572652	C	T	C72572652T	HDAC8	NM_018486.3(HDAC8):c.110G>A:p.Arg37Gln	coding	Pathogenic
X	72572705	G	A	G72572705A	HDAC8	NM_018486.3(HDAC8):c.57C>T:p.Ile19=	coding	Benign/Likely_benign
X	72582397	C	G	C72582397G	PHKA1	NM_002637.4(PHKA1):c.3498+1G>C	noncoding	Pathogenic
X	72584590	A	C	A72584590C	PHKA1	NM_002637.4(PHKA1):c.3244-288T>G	noncoding	Benign
X	72605280	G	A	G72605280A	PHKA1	NM_002637.4(PHKA1):c.2806C>T:p.Arg936Ter	coding	Pathogenic
X	72619199	C	A	C72619199A	PHKA1	NM_002637.4(PHKA1):c.2229+15G>T	noncoding	Benign
X	72620812	C	A	C72620812A	PHKA1	NM_002637.4(PHKA1):c.2050G>T:p.Gly684Ter	coding	Pathogenic
X	72627005	G	A	G72627005A	PHKA1	NM_002637.4(PHKA1):c.1759C>T:p.Arg587Ter	coding	Pathogenic
X	72650688	G	T	G72650688T	PHKA1	NM_002637.4(PHKA1):c.1246-220C>A	noncoding	Benign
X	72656321	T	C	T72656321C	PHKA1	NM_002637.4(PHKA1):c.919-79A>G	noncoding	Benign
X	72666265	T	C	T72666265C	PHKA1	NM_002637.4(PHKA1):c.750A>G:p.Ser250=	coding	Benign
X	72667457	A	C	A72667457C	PHKA1	NM_002637.4(PHKA1):c.635T>G:p.Leu212Ter	coding	Pathogenic
X	72667737	T	C	T72667737C	PHKA1	NM_002637.4(PHKA1):c.619-264A>G	noncoding	Benign
X	72676175	A	G	A72676175G	PHKA1	NM_002637.4(PHKA1):c.538-25T>C	noncoding	Benign/Likely_benign
X	72705249	C	T	C72705249T	PHKA1	NM_002637.4(PHKA1):c.238-4G>A	noncoding	Benign
X	73852757	G	C	G73852757C	XIST	NG_016172.1:g.4997C>G	noncoding	Pathogenic
X	74421416	A	T	A74421416T	SLC16A2	NM_006517.3(SLC16A2):c.1A>T:p.Met1Leu	noncoding	Benign/Likely_benign
X	74421488	G	A	G74421488A	SLC16A2	NM_006517.3(SLC16A2):c.73G>A	noncoding	Benign/Likely_benign
X	74421660	G	A	G74421660A	SLC16A2	NM_006517.5(SLC16A2):c.23G>A:p.Ser8Asn	coding	Benign
X	74421665	G	T	G74421665T	SLC16A2	NM_006517.5(SLC16A2):c.28G>T:p.Glu10Ter	coding	Pathogenic
X	74421872	C	A	C74421872A	SLC16A2	NM_006517.5(SLC16A2):c.235C>A:p.Pro79Thr	coding	Benign
X	74421902	G	A	G74421902A	SLC16A2	NM_006517.5(SLC16A2):c.265G>A:p.Ala89Thr	coding	Benign/Likely_benign
X	74521097	G	A	G74521097A	SLC16A2	NM_006517.5(SLC16A2):c.538G>A:p.Val180Ile	coding	Benign/Likely_benign
X	74524755	G	A	G74524755A	SLC16A2	NM_006517.5(SLC16A2):c.972G>A:p.Trp324Ter	coding	Pathogenic
X	74524762	G	A	G74524762A	SLC16A2	NM_006517.5(SLC16A2):c.979G>A:p.Gly327Arg	coding	Pathogenic/Likely_pathogenic
X	74525793	G	A	G74525793A	SLC16A2	NM_006517.5(SLC16A2):c.1070G>A:p.Trp357Ter	coding	Pathogenic
X	74529235	G	A	G74529235A	SLC16A2	NM_006517.5(SLC16A2):c.1193G>A:p.Gly398Asp	coding	Pathogenic
X	74529265	G	A	G74529265A	SLC16A2	NM_006517.5(SLC16A2):c.1223G>A:p.Arg408Gln	coding	Benign
X	74529484	T	G	T74529484G	SLC16A2	NM_006517.5(SLC16A2):c.1399+43T>G	noncoding	Benign
X	74531188	C	G	C74531188G	SLC16A2	NM_006517.5(SLC16A2):c.1400-145C>G	noncoding	Benign
X	74531403	G	A	G74531403A	SLC16A2	NM_006517.5(SLC16A2):c.1470G>A:p.Gly490=	coding	Benign
X	74531523	G	A	G74531523A	SLC16A2	NM_006517.5(SLC16A2):c.1590G>A:p.Pro530=	coding	Benign/Likely_benign
X	74739492	G	A	G74739492A	NEXMIF	NM_001008537.3(NEXMIF):c.4464C>T:p.Ser1488=	coding	Benign
X	74740112	A	G	A74740112G	NEXMIF	NM_001008537.3(NEXMIF):c.4445T>C:p.Phe1482Ser	coding	Benign
X	74740235	C	T	C74740235T	NEXMIF	NM_001008537.3(NEXMIF):c.4322G>A:p.Gly1441Glu	coding	Benign
X	74740237	G	A	G74740237A	NEXMIF	NM_001008537.3(NEXMIF):c.4320C>T:p.Asn1440=	coding	Benign/Likely_benign
X	74740289	C	T	C74740289T	NEXMIF	NM_001008537.3(NEXMIF):c.4268G>A:p.Arg1423His	coding	Benign
X	74740300	G	A	G74740300A	NEXMIF	NM_001008537.3(NEXMIF):c.4257C>T:p.Asn1419=	coding	Benign
X	74740514	T	C	T74740514C	NEXMIF	NM_001008537.3(NEXMIF):c.4043A>G:p.His1348Arg	coding	Benign
X	74740630	G	T	G74740630T	NEXMIF	NM_001008537.3(NEXMIF):c.3927C>A:p.Asp1309Glu	coding	Benign
X	74740731	G	C	G74740731C	NEXMIF	NM_001008537.3(NEXMIF):c.3826C>G:p.Gln1276Glu	coding	Benign/Likely_benign
X	74740743	T	A	T74740743A	NEXMIF	NM_001008537.3(NEXMIF):c.3814A>T:p.Lys1272Ter	coding	Pathogenic
X	74740857	C	A	C74740857A	NEXMIF	NM_001008537.3(NEXMIF):c.3700G>T:p.Gly1234Ter	coding	Pathogenic
X	74740907	C	T	C74740907T	NEXMIF	NM_001008537.3(NEXMIF):c.3650G>A:p.Arg1217His	coding	Benign/Likely_benign
X	74740920	C	T	C74740920T	NEXMIF	NM_001008537.3(NEXMIF):c.3637G>A:p.Gly1213Ser	coding	Benign/Likely_benign
X	74740998	T	C	T74740998C	NEXMIF	NM_001008537.3(NEXMIF):c.3559A>G:p.Met1187Val	coding	Benign
X	74741078	T	C	T74741078C	NEXMIF	NM_001008537.3(NEXMIF):c.3479A>G:p.Asn1160Ser	coding	Benign
X	74741148	G	A	G74741148A	NEXMIF	NM_001008537.3(NEXMIF):c.3409C>T:p.Gln1137Ter	coding	Pathogenic
X	74741181	C	A	C74741181A	NEXMIF	NM_001008537.3(NEXMIF):c.3376G>T:p.Glu1126Ter	coding	Pathogenic
X	74741204	G	A	G74741204A	NEXMIF	NM_001008537.3(NEXMIF):c.3353C>T:p.Thr1118Ile	coding	Benign
X	74741263	G	A	G74741263A	NEXMIF	NM_001008537.3(NEXMIF):c.3294C>T:p.Phe1098=	coding	Benign/Likely_benign
X	74741269	C	T	C74741269T	NEXMIF	NM_001008537.3(NEXMIF):c.3288G>A:p.Lys1096=	coding	Benign
X	74741313	G	A	G74741313A	NEXMIF	NM_001008537.3(NEXMIF):c.3244C>T:p.Gln1082Ter	coding	Pathogenic
X	74741455	C	T	C74741455T	NEXMIF	NM_001008537.3(NEXMIF):c.3102G>A:p.Leu1034=	coding	Benign
X	74741502	C	T	C74741502T	NEXMIF	NM_001008537.3(NEXMIF):c.3055G>A:p.Asp1019Asn	coding	Benign
X	74741503	G	A	G74741503A	NEXMIF	NM_001008537.3(NEXMIF):c.3054C>T:p.Gly1018=	coding	Benign
X	74741531	A	C	A74741531C	NEXMIF	NM_001008537.3(NEXMIF):c.3026T>G:p.Leu1009Ter	coding	Pathogenic
X	74741591	C	T	C74741591T	NEXMIF	NM_001008537.3(NEXMIF):c.2966G>A:p.Arg989Gln	coding	Benign
X	74741619	G	A	G74741619A	NEXMIF	NM_001008537.3(NEXMIF):c.2938C>T:p.Gln980Ter	coding	Pathogenic
X	74741688	G	A	G74741688A	NEXMIF	NM_001008537.3(NEXMIF):c.2869C>T:p.Gln957Ter	coding	Pathogenic
X	74741697	G	A	G74741697A	NEXMIF	NM_001008537.3(NEXMIF):c.2860C>T:p.Gln954Ter	coding	Pathogenic
X	74741722	G	T	G74741722T	NEXMIF	NM_001008537.3(NEXMIF):c.2835C>A:p.Cys945Ter	coding	Pathogenic
X	74741758	G	T	G74741758T	NEXMIF	NM_001008537.3(NEXMIF):c.2799C>A:p.Tyr933Ter	coding	Pathogenic
X	74741773	G	C	G74741773C	NEXMIF	NM_001008537.3(NEXMIF):c.2784C>G:p.Leu928=	coding	Benign
X	74741805	C	A	C74741805A	NEXMIF	NM_001008537.3(NEXMIF):c.2752G>T:p.Ala918Ser	coding	Benign
X	74741843	G	C	G74741843C	NEXMIF	NM_001008537.3(NEXMIF):c.2714C>G:p.Ser905Ter	coding	Pathogenic
X	74741901	T	A	T74741901A	NEXMIF	NM_001008537.3(NEXMIF):c.2656A>T:p.Arg886Ter	coding	Pathogenic
X	74742013	G	A	G74742013A	NEXMIF	NM_001008537.3(NEXMIF):c.2544C>T:p.Thr848=	coding	Benign/Likely_benign
X	74742036	T	C	T74742036C	NEXMIF	NM_001008537.3(NEXMIF):c.2521A>G:p.Asn841Asp	coding	Benign
X	74742052	G	A	G74742052A	NEXMIF	NM_001008537.3(NEXMIF):c.2505C>T:p.His835=	coding	Benign/Likely_benign
X	74742062	T	C	T74742062C	NEXMIF	NM_001008537.3(NEXMIF):c.2495A>G:p.Tyr832Cys	coding	Benign
X	74742124	C	T	C74742124T	NEXMIF	NM_001008537.3(NEXMIF):c.2433G>A:p.Pro811=	coding	Benign
X	74742181	G	T	G74742181T	NEXMIF	NM_001008537.3(NEXMIF):c.2376C>A:p.Cys792Ter	coding	Pathogenic
X	74742200	G	C	G74742200C	NEXMIF	NM_001008537.3(NEXMIF):c.2357C>G:p.Thr786Ser	coding	Benign/Likely_benign
X	74742464	T	G	T74742464G	NEXMIF	NM_001008537.3(NEXMIF):c.2093A>C:p.Asp698Ala	coding	Benign
X	74742668	G	C	G74742668C	NEXMIF	NM_001008537.3(NEXMIF):c.1889C>G:p.Ser630Cys	coding	Benign
X	74742674	C	A	C74742674A	NEXMIF	NM_001008537.3(NEXMIF):c.1883G>T:p.Arg628Leu	coding	Benign
X	74742703	C	T	C74742703T	NEXMIF	NM_001008537.3(NEXMIF):c.1854G>A:p.Glu618=	coding	Benign/Likely_benign
X	74742760	C	T	C74742760T	NEXMIF	NM_001008537.3(NEXMIF):c.1797G>A:p.Thr599=	coding	Benign
X	74742774	T	A	T74742774A	NEXMIF	NM_001008537.3(NEXMIF):c.1783A>T:p.Arg595Ter	coding	Pathogenic
X	74742794	C	T	C74742794T	NEXMIF	NM_001008537.3(NEXMIF):c.1763G>A:p.Trp588Ter	coding	Pathogenic
X	74742808	G	C	G74742808C	NEXMIF	NM_001008537.3(NEXMIF):c.1749C>G:p.Pro583=	coding	Benign/Likely_benign
X	74743081	A	T	A74743081T	NEXMIF	NM_001008537.3(NEXMIF):c.1476T>A:p.Tyr492Ter	coding	Pathogenic
X	74743082	T	A	T74743082A	NEXMIF	NM_001008537.3(NEXMIF):c.1475A>T:p.Tyr492Phe	coding	Benign
X	74743207	A	C	A74743207C	NEXMIF	NM_001008537.3(NEXMIF):c.1350T>G:p.Tyr450Ter	coding	Pathogenic
X	74743360	A	G	A74743360G	NEXMIF	NM_001008537.3(NEXMIF):c.1197T>C:p.Asp399=	coding	Benign
X	74743361	T	C	T74743361C	NEXMIF	NM_001008537.3(NEXMIF):c.1196A>G:p.Asp399Gly	coding	Benign/Likely_benign
X	74743374	C	T	C74743374T	NEXMIF	NM_001008537.3(NEXMIF):c.1183G>A:p.Val395Ile	coding	Benign
X	74743398	C	A	C74743398A	NEXMIF	NM_001008537.3(NEXMIF):c.1159G>T:p.Glu387Ter	coding	Pathogenic
X	74743423	T	G	T74743423G	NEXMIF	NM_001008537.3(NEXMIF):c.1134A>C:p.Lys378Asn	coding	Benign
X	74743438	C	G	C74743438G	NEXMIF	NM_001008537.3(NEXMIF):c.1119G>C:p.Trp373Cys	coding	Benign
X	74743557	G	A	G74743557A	NEXMIF	NM_001008537.3(NEXMIF):c.1000C>T:p.Gln334Ter	coding	Pathogenic
X	74743695	C	A	C74743695A	NEXMIF	NM_001008537.3(NEXMIF):c.862G>T:p.Glu288Ter	coding	Pathogenic
X	74743743	G	A	G74743743A	NEXMIF	NM_001008537.3(NEXMIF):c.814C>T:p.Leu272=	coding	Benign
X	74743744	T	C	T74743744C	NEXMIF	NM_001008537.3(NEXMIF):c.813A>G:p.Glu271=	coding	Benign
X	74743867	C	T	C74743867T	NEXMIF	NM_001008537.3(NEXMIF):c.690G>A:p.Pro230=	coding	Benign
X	74743914	C	A	C74743914A	NEXMIF	NM_001008537.3(NEXMIF):c.643G>T:p.Gly215Ter	coding	Pathogenic
X	74743986	C	A	C74743986A	NEXMIF	NM_001008537.3(NEXMIF):c.571G>T:p.Glu191Ter	coding	Pathogenic
X	74744057	A	G	A74744057G	NEXMIF	NM_001008537.3(NEXMIF):c.500T>C:p.Val167Ala	coding	Benign
X	74744082	G	A	G74744082A	NEXMIF	NM_001008537.3(NEXMIF):c.475C>T:p.Pro159Ser	coding	Benign
X	74744200	C	T	C74744200T	NEXMIF	NM_001008537.3(NEXMIF):c.357G>A:p.Glu119=	coding	Benign
X	74744370	C	T	C74744370T	NEXMIF	NM_001008537.3(NEXMIF):c.187G>A:p.Gly63Ser	coding	Benign
X	74744404	C	T	C74744404T	NEXMIF	NM_001008537.3(NEXMIF):c.153G>A:p.Pro51=	coding	Benign
X	74744405	G	T	G74744405T	NEXMIF	NM_001008537.3(NEXMIF):c.152C>A:p.Pro51Gln	coding	Benign
X	74744421	G	A	G74744421A	NEXMIF	NM_001008537.3(NEXMIF):c.136C>T:p.Pro46Ser	coding	Benign
X	74745609	G	A	G74745609A	NEXMIF	NM_001008537.3(NEXMIF):c.42C>T:p.Asn14=	coding	Benign/Likely_benign
X	75060009	T	C	T75060009C	ABCB7	NM_001271696.3(ABCB7):c.2043+214A>G	noncoding	Benign
X	75060550	C	T	C75060550T	ABCB7	NM_001271696.3(ABCB7):c.1936-220G>A	noncoding	Benign
X	75062083	T	A	T75062083A	ABCB7	NM_001271696.3(ABCB7):c.1935+245A>T	noncoding	Benign
X	75065046	G	A	G75065046A	ABCB7	NM_001271696.3(ABCB7):c.1831+24C>T	noncoding	Benign
X	75065554	A	G	A75065554G	ABCB7	NM_001271696.3(ABCB7):c.1660-313T>C	noncoding	Benign
X	75068679	T	C	T75068679C	ABCB7	NM_001271696.3(ABCB7):c.1659+328A>G	noncoding	Benign
X	75069077	T	C	T75069077C	ABCB7	NM_001271696.3(ABCB7):c.1589A>G:p.Tyr530Cys	coding	Benign
X	75069509	C	T	C75069509T	ABCB7	NM_001271696.3(ABCB7):c.1366-55G>A	noncoding	Benign
X	75070410	A	G	A75070410G	ABCB7	NM_001271696.3(ABCB7):c.1320T>C:p.Asp440=	coding	Benign/Likely_benign
X	75076264	G	C	G75076264C	ABCB7	NM_001271696.3(ABCB7):c.586+258C>G	noncoding	Benign
X	75099109	C	T	C75099109T	ABCB7	NM_001271696.3(ABCB7):c.334-48G>A	noncoding	Benign
X	75114581	A	T	A75114581T	ABCB7	NM_001271696.3(ABCB7):c.246+173T>A	noncoding	Benign
X	75114852	T	C	T75114852C	ABCB7	NM_001271696.3(ABCB7):c.169-21A>G	noncoding	Benign
X	75156036	G	C	G75156036C	ABCB7	NM_001271696.3(ABCB7):c.168+69C>G	noncoding	Benign
X	75156361	G	C	G75156361C	ABCB7	Single_allele	noncoding	Benign
X	75156585	C	T	C75156585T	ABCB7	NM_001363821.1(UPRT):c.-379+35C>T	noncoding	Benign
X	77508398	G	A	G77508398A	ATRX	NM_000489.6(ATRX):c.7432C>T:p.Pro2478Ser	coding	Benign
X	77508429	C	T	C77508429T	ATRX	NM_000489.6(ATRX):c.7401G>A:p.Met2467Ile	coding	Benign
X	77508480	G	C	G77508480C	ATRX	NM_000489.6(ATRX):c.7350C>G:p.Asn2450Lys	coding	Benign
X	77508601	A	G	A77508601G	ATRX	NM_000489.6(ATRX):c.7229T>C:p.Met2410Thr	coding	Benign
X	77520773	C	T	C77520773T	ATRX	NM_000489.6(ATRX):c.7200+15G>A	noncoding	Benign
X	77520875	C	T	C77520875T	ATRX	NM_000489.6(ATRX):c.7113G>A:p.Ala2371=	coding	Benign/Likely_benign
X	77520877	C	T	C77520877T	ATRX	NM_000489.6(ATRX):c.7111G>A:p.Ala2371Thr	coding	Benign
X	77520919	A	G	A77520919G	ATRX	NM_000489.6(ATRX):c.7072-3T>C	noncoding	Benign
X	77521463	T	C	T77521463C	ATRX	NM_000489.6(ATRX):c.7011A>G:p.Glu2337=	coding	Benign
X	77522117	G	A	G77522117A	ATRX	NM_000489.6(ATRX):c.6975+146C>T	noncoding	Benign
X	77522314	A	G	A77522314G	ATRX	NM_000489.6(ATRX):c.6924T>C:p.Tyr2308=	coding	Benign
X	77522419	A	T	A77522419T	ATRX	NM_000489.6(ATRX):c.6850-31T>A	noncoding	Benign
X	77523221	C	A	C77523221A	ATRX	NM_000489.6(ATRX):c.6849+31G>T	noncoding	Benign
X	77557595	C	A	C77557595A	ATRX	NM_000489.6(ATRX):c.6555G>T:p.Leu2185=	coding	Benign
X	77557618	G	A	G77557618A	ATRX	NM_000489.6(ATRX):c.6532C>T:p.Arg2178Trp	coding	Pathogenic
X	77558633	A	G	A77558633G	ATRX	NM_000489.6(ATRX):c.6504+36T>C	noncoding	Benign
X	77558864	G	A	G77558864A	ATRX	NM_000489.6(ATRX):c.6327-18C>T	noncoding	Benign
X	77574323	G	A	G77574323A	ATRX	NM_000489.6(ATRX):c.6253C>T:p.Arg2085Cys	coding	Pathogenic/Likely_pathogenic
X	77574392	T	G	T77574392G	ATRX	NM_000489.6(ATRX):c.6218-34A>C	noncoding	Benign
X	77574655	T	C	T77574655C	ATRX	NM_000489.6(ATRX):c.6218-297A>G	noncoding	Benign
X	77590086	T	C	T77590086C	ATRX	NM_000489.6(ATRX):c.6111-146A>G	noncoding	Benign
X	77593780	G	C	G77593780C	ATRX	NM_000489.6(ATRX):c.6026C>G:p.Ala2009Gly	coding	Benign
X	77593788	A	T	A77593788T	ATRX	NM_000489.6(ATRX):c.6018T>A:p.Val2006=	coding	Benign/Likely_benign
X	77599395	C	T	C77599395T	ATRX	NM_000489.6(ATRX):c.5956+16G>A	noncoding	Benign
X	77599604	C	A	C77599604A	ATRX	NM_000489.6(ATRX):c.5787-24G>T	noncoding	Benign
X	77599712	C	T	C77599712T	ATRX	NM_000489.6(ATRX):c.5786+20G>A	noncoding	Benign
X	77600582	G	A	G77600582A	ATRX	NM_000489.6(ATRX):c.5567-18C>T	noncoding	Benign
X	77616599	G	A	G77616599A	ATRX	NM_000489.6(ATRX):c.5566+14C>T	noncoding	Benign
X	77618786	A	C	A77618786C	ATRX	NM_000489.6(ATRX):c.5448+20T>G	noncoding	Benign
X	77618991	A	T	A77618991T	ATRX	NM_000489.6(ATRX):c.5273-10T>A	noncoding	Pathogenic
X	77619000	T	C	T77619000C	ATRX	NM_000489.6(ATRX):c.5273-19A>G	noncoding	Benign
X	77620379	A	G	A77620379G	ATRX	NM_000489.6(ATRX):c.5272+16T>C	noncoding	Benign
X	77620483	T	C	T77620483C	ATRX	NM_000489.6(ATRX):c.5184A>G:p.Ala1728=	coding	Benign/Likely_benign
X	77633340	G	A	G77633340A	ATRX	NM_000489.6(ATRX):c.5001C>T:p.Tyr1667=	coding	Benign
X	77633404	A	G	A77633404G	ATRX	NM_000489.6(ATRX):c.4957-20T>C	noncoding	Benign
X	77633656	C	T	C77633656T	ATRX	NM_000489.6(ATRX):c.4866G>A:p.Ala1622=	coding	Benign
X	77633664	T	G	T77633664G	ATRX	NM_000489.6(ATRX):c.4858A>C:p.Ser1620Arg	coding	Benign
X	77633749	C	A	C77633749A	ATRX	NM_000489.6(ATRX):c.4810-37G>T	noncoding	Benign
X	77634636	T	A	T77634636A	ATRX	NM_000489.6(ATRX):c.4767A>T:p.Gly1589=	coding	Benign
X	77634657	T	C	T77634657C	ATRX	NM_000489.6(ATRX):c.4746A>G:p.Thr1582=	coding	Benign/Likely_benign
X	77635906	G	A	G77635906A	ATRX	NM_000489.6(ATRX):c.4699+9C>T	noncoding	Benign/Likely_benign
X	77635967	T	C	T77635967C	ATRX	NM_000489.6(ATRX):c.4647A>G:p.Leu1549=	coding	Benign
X	77652095	G	A	G77652095A	ATRX	NM_000489.6(ATRX):c.4557+19C>T	noncoding	Benign
X	77652099	A	G	A77652099G	ATRX	NM_000489.6(ATRX):c.4557+15T>C	noncoding	Benign
X	77653797	G	A	G77653797A	ATRX	NM_000489.6(ATRX):c.4317+301C>T	noncoding	Benign
X	77654085	A	G	A77654085G	ATRX	NM_000489.6(ATRX):c.4317+13T>C	noncoding	Benign
X	77656324	G	A	G77656324A	ATRX	NM_000489.6(ATRX):c.4214+236C>T	noncoding	Benign
X	77656543	A	G	A77656543G	ATRX	NM_000489.6(ATRX):c.4214+17T>C	noncoding	Benign
X	77656567	T	C	T77656567C	ATRX	NM_000489.6(ATRX):c.4207A>G:p.Arg1403Gly	coding	Benign
X	77656640	A	C	A77656640C	ATRX	NM_000489.6(ATRX):c.4134T>G:p.Asp1378Glu	coding	Benign
X	77663519	G	T	G77663519T	ATRX	NM_000489.6(ATRX):c.3983C>A:p.Ser1328Tyr	coding	Benign
X	77663530	T	C	T77663530C	ATRX	NM_000489.6(ATRX):c.3972A>G:p.Ser1324=	coding	Benign/Likely_benign
X	77663540	T	C	T77663540C	ATRX	NM_000489.6(ATRX):c.3962A>G:p.Asn1321Ser	coding	Benign
X	77663549	T	C	T77663549C	ATRX	NM_000489.6(ATRX):c.3953A>G:p.Asn1318Ser	coding	Benign
X	77664642	C	A	C77664642A	ATRX	NM_000489.6(ATRX):c.3943+3G>T	noncoding	Pathogenic
X	77664681	T	C	T77664681C	ATRX	NM_000489.6(ATRX):c.3907A>G:p.Thr1303Ala	coding	Benign/Likely_benign
X	77664700	T	C	T77664700C	ATRX	NM_000489.6(ATRX):c.3888A>G:p.Pro1296=	coding	Benign
X	77676304	G	A	G77676304A	ATRX	NM_000489.6(ATRX):c.3737-6C>T	noncoding	Benign
X	77681569	C	T	C77681569T	ATRX	NM_000489.6(ATRX):c.3687G>A:p.Val1229=	coding	Benign/Likely_benign
X	77681718	T	C	T77681718C	ATRX	NM_000489.6(ATRX):c.3538A>G:p.Ile1180Val	coding	Benign
X	77681797	T	C	T77681797C	ATRX	NM_000489.6(ATRX):c.3459A>G:p.Ser1153=	coding	Benign/Likely_benign
X	77682049	C	T	C77682049T	ATRX	NM_000489.6(ATRX):c.3207G>A:p.Gly1069=	coding	Benign/Likely_benign
X	77682153	T	C	T77682153C	ATRX	NM_000489.6(ATRX):c.3103A>G:p.Ile1035Val	coding	Benign
X	77682334	G	A	G77682334A	ATRX	NM_000489.6(ATRX):c.2922C>T:p.Ser974=	coding	Benign/Likely_benign
X	77682387	C	G	C77682387G	ATRX	NM_000489.6(ATRX):c.2869G>C:p.Val957Leu	coding	Benign
X	77682492	C	T	C77682492T	ATRX	NM_000489.6(ATRX):c.2764G>A:p.Asp922Asn	coding	Benign
X	77682528	T	C	T77682528C	ATRX	NM_000489.6(ATRX):c.2728A>G:p.Lys910Glu	coding	Benign
X	77682573	C	G	C77682573G	ATRX	NM_000489.6(ATRX):c.2683G>C:p.Val895Leu	coding	Benign
X	77682576	T	G	T77682576G	ATRX	NM_000489.6(ATRX):c.2680A>C:p.Thr894Pro	coding	Benign/Likely_benign
X	77682604	C	G	C77682604G	ATRX	NM_000489.6(ATRX):c.2652G>C:p.Glu884Asp	coding	Benign/Likely_benign
X	77682675	C	T	C77682675T	ATRX	NM_000489.6(ATRX):c.2581G>A:p.Asp861Asn	coding	Benign
X	77682683	T	C	T77682683C	ATRX	NM_000489.6(ATRX):c.2573A>G:p.Lys858Arg	coding	Benign
X	77682726	T	C	T77682726C	ATRX	NM_000489.6(ATRX):c.2530A>G:p.Thr844Ala	coding	Benign
X	77682776	C	T	C77682776T	ATRX	NM_000489.6(ATRX):c.2480G>A:p.Ser827Asn	coding	Benign
X	77682827	G	T	G77682827T	ATRX	NM_000489.6(ATRX):c.2429C>A:p.Thr810Asn	coding	Benign
X	77682859	C	G	C77682859G	ATRX	NM_000489.6(ATRX):c.2397G>C:p.Lys799Asn	coding	Benign
X	77682943	C	T	C77682943T	ATRX	NM_000489.6(ATRX):c.2313G>A:p.Ala771=	coding	Benign
X	77683139	C	G	C77683139G	ATRX	NM_000489.6(ATRX):c.2117G>C:p.Ser706Thr	coding	Benign
X	77683169	C	G	C77683169G	ATRX	NM_000489.6(ATRX):c.2087G>C:p.Arg696Thr	coding	Benign
X	77683247	G	A	G77683247A	ATRX	NM_000489.6(ATRX):c.2009C>T:p.Thr670Ile	coding	Benign
X	77683296	G	A	G77683296A	ATRX	NM_000489.6(ATRX):c.1960C>T:p.Arg654Ter	coding	Pathogenic
X	77683577	G	C	G77683577C	ATRX	NM_000489.6(ATRX):c.1679C>G:p.Ser560Cys	coding	Benign
X	77683590	C	T	C77683590T	ATRX	NM_000489.6(ATRX):c.1666G>A:p.Val556Met	coding	Benign
X	77683631	A	G	A77683631G	ATRX	NM_000489.6(ATRX):c.1625T>C:p.Val542Ala	coding	Benign/Likely_benign
X	77683815	C	G	C77683815G	ATRX	NM_000489.6(ATRX):c.1441G>C:p.Glu481Gln	coding	Benign
X	77683872	C	G	C77683872G	ATRX	NM_000489.6(ATRX):c.1384G>C:p.Ala462Pro	coding	Benign
X	77683953	T	C	T77683953C	ATRX	NM_000489.6(ATRX):c.1303A>G:p.Ile435Val	coding	Benign/Likely_benign
X	77683959	T	C	T77683959C	ATRX	NM_000489.6(ATRX):c.1297A>G:p.Lys433Glu	coding	Benign
X	77684339	T	C	T77684339C	ATRX	NM_000489.6(ATRX):c.917A>G:p.Asn306Ser	coding	Benign
X	77684447	G	A	G77684447A	ATRX	NM_000489.6(ATRX):c.809C>T:p.Pro270Leu	coding	Pathogenic
X	77684584	C	T	C77684584T	ATRX	NM_000489.6(ATRX):c.672G>A:p.Ala224=	coding	Benign/Likely_benign
X	77684648	A	T	A77684648T	ATRX	NM_000489.6(ATRX):c.663-55T>A	noncoding	Benign
X	77684928	A	G	A77684928G	ATRX	NM_000489.6(ATRX):c.662+11T>C	noncoding	Benign
X	77685023	G	C	G77685023C	ATRX	NM_000489.6(ATRX):c.595-17C>G	noncoding	Benign
X	77685049	A	G	A77685049G	ATRX	NM_000489.6(ATRX):c.595-43T>C	noncoding	Benign
X	77688944	G	C	G77688944C	ATRX	NM_000489.6(ATRX):c.485-17C>G	noncoding	Benign
X	77688945	C	T	C77688945T	ATRX	NM_000489.6(ATRX):c.485-18G>A	noncoding	Benign
X	77693767	T	G	T77693767G	ATRX	NM_000489.6(ATRX):c.484+57A>C	noncoding	Benign
X	77696569	C	T	C77696569T	ATRX	NM_000489.6(ATRX):c.370+8G>A	noncoding	Benign
X	77697598	G	A	G77697598A	ATRX	NM_000489.6(ATRX):c.227C>T:p.Ser76Leu	coding	Benign
X	77698586	G	A	G77698586A	ATRX	NM_000489.6(ATRX):c.177C>T:p.Asn59=	coding	Benign
X	77698933	C	T	C77698933T	ATRX	NM_000489.6(ATRX):c.134-304G>A	noncoding	Benign
X	77717146	T	C	T77717146C	ATRX	NM_000489.6(ATRX):c.118A>G:p.Met40Val	coding	Benign
X	77717150	A	C	A77717150C	ATRX	NM_000489.6(ATRX):c.114T>G:p.Leu38=	coding	Benign
X	77830888	A	T	A77830888T	MAGT1	NM_001367916.1(MAGT1):c.909T>A:p.Cys303Ter	coding	Pathogenic
X	77853956	G	A	G77853956A	MAGT1	NM_001367916.1(MAGT1):c.771C>T:p.Ile257=	coding	Benign
X	77853978	A	C	A77853978C	MAGT1	NM_001367916.1(MAGT1):c.763-14T>G	noncoding	Benign
X	77855556	C	T	C77855556T	MAGT1	NM_001367916.1(MAGT1):c.707G>A:p.Trp236Ter	coding	Pathogenic
X	77855606	A	G	A77855606G	MAGT1	NM_001367916.1(MAGT1):c.673-16T>C	noncoding	Benign
X	77856885	G	C	G77856885C	MAGT1	NM_001367916.1(MAGT1):c.532-12C>G	noncoding	Benign
X	77857381	C	T	C77857381T	MAGT1	NM_001367916.1(MAGT1):c.507G>A:p.Trp169Ter	coding	Pathogenic
X	77857398	C	A	C77857398A	MAGT1	NM_001367916.1(MAGT1):c.490G>T:p.Glu164Ter	coding	Pathogenic
X	77870802	T	C	T77870802C	MAGT1	NM_001367916.1(MAGT1):c.390+6A>G	noncoding	Benign
X	77875415	T	C	T77875415C	MAGT1	NM_001367916.1(MAGT1):c.272+13A>G	noncoding	Benign
X	77875420	G	A	G77875420A	MAGT1	NM_001367916.1(MAGT1):c.272+8C>T	noncoding	Benign
X	77875508	A	G	A77875508G	MAGT1	NM_001367916.1(MAGT1):c.192T>C:p.Leu64=	coding	Benign
X	77875614	G	A	G77875614A	MAGT1	NM_001367916.1(MAGT1):c.103-17C>T	noncoding	Benign
X	77895322	T	C	T77895322C	MAGT1	NM_001367916.1(MAGT1):c.89A>G:p.Gln30Arg	coding	Benign
X	77895371	T	C	T77895371C	MAGT1	NM_001367916.1(MAGT1):c.40A>G:p.Met14Val	coding	Benign
X	77895420	T	C	T77895420C	MAGT1	NM_001367916.1(MAGT1):c.-10A>G	coding	Benign
X	77895424	C	T	C77895424T	MAGT1	NM_001367916.1(MAGT1):c.-14G>A	coding	Benign/Likely_benign
X	77902629	C	T	C77902629T	COX7B	NM_001866.3(COX7B):c.41-14C>T	noncoding	Benign
X	77971804	G	A	G77971804A	ATP7A	NM_000052.7(ATP7A):c.120+43G>A	noncoding	Benign
X	77972089	G	C	G77972089C	ATP7A	NM_000052.7(ATP7A):c.120+328G>C	noncoding	Benign
X	77988614	A	G	A77988614G	ATP7A	NM_000052.7(ATP7A):c.493A>G:p.Met165Val	coding	Benign
X	77988750	A	G	A77988750G	ATP7A	NM_000052.7(ATP7A):c.610+19A>G	noncoding	Benign/Likely_benign
X	77989387	A	G	A77989387G	ATP7A	NM_000052.7(ATP7A):c.765A>G:p.Leu255=	coding	Benign
X	77989424	C	T	C77989424T	ATP7A	NM_000052.7(ATP7A):c.802C>T:p.Gln268Ter	coding	Pathogenic
X	77989471	T	C	T77989471C	ATP7A	NM_000052.7(ATP7A):c.849T>C:p.Ile283=	coding	Benign
X	77989831	A	G	A77989831G	ATP7A	NM_000052.7(ATP7A):c.1209A>G:p.Pro403=	coding	Benign
X	77998566	G	A	G77998566A	ATP7A	NM_000052.7(ATP7A):c.1425G>A:p.Met475Ile	coding	Benign
X	78009129	G	A	G78009129A	ATP7A	NM_000052.7(ATP7A):c.1735G>A:p.Val579Ile	coding	Benign
X	78011247	A	G	A78011247G	ATP7A	NM_000052.7(ATP7A):c.1941A>G:p.Ile647Met	coding	Benign
X	78011613	A	G	A78011613G	ATP7A	NM_000052.7(ATP7A):c.2111A>G:p.Gln704Arg	coding	Benign
X	78012855	A	G	A78012855G	ATP7A	NM_000052.7(ATP7A):c.2173-24A>G	noncoding	Benign
X	78012892	G	A	G78012892A	ATP7A	NM_000052.7(ATP7A):c.2186G>A:p.Trp729Ter	coding	Pathogenic
X	78013115	A	C	A78013115C	ATP7A	NM_000052.7(ATP7A):c.2406+3A>C	noncoding	Pathogenic
X	78013127	G	C	G78013127C	ATP7A	NM_000052.7(ATP7A):c.2406+15G>C	noncoding	Benign
X	78013130	G	A	G78013130A	ATP7A	NM_000052.7(ATP7A):c.2406+18G>A	noncoding	Benign
X	78014648	G	T	G78014648T	ATP7A	NM_000052.7(ATP7A):c.2407-14G>T	noncoding	Benign/Likely_benign
X	78014752	A	G	A78014752G	ATP7A	NM_000052.7(ATP7A):c.2497A>G:p.Ser833Gly	coding	Pathogenic
X	78020274	G	A	G78020274A	ATP7A	NM_000052.7(ATP7A):c.2657G>A:p.Gly886Asp	coding	Benign
X	78020290	T	G	T78020290G	ATP7A	NM_000052.7(ATP7A):c.2673T>G:p.Ala891=	coding	Benign
X	78020993	T	C	T78020993C	ATP7A	NM_000052.7(ATP7A):c.2830T>C:p.Phe944Leu	coding	Benign
X	78021055	T	C	T78021055C	ATP7A	NM_000052.7(ATP7A):c.2892T>C:p.Phe964=	coding	Benign
X	78021070	C	G	C78021070G	ATP7A	NM_000052.7(ATP7A):c.2907C>G:p.Thr969=	coding	Benign
X	78033744	C	T	C78033744T	ATP7A	NM_000052.7(ATP7A):c.3434C>T:p.Ala1145Val	coding	Benign/Likely_benign
X	78038884	G	A	G78038884A	ATP7A	NM_000052.7(ATP7A):c.3560G>A:p.Trp1187Ter	coding	Pathogenic
X	78040590	G	A	G78040590A	ATP7A	NM_000052.7(ATP7A):c.3659-1G>A	noncoding	Pathogenic
X	78040731	C	T	C78040731T	ATP7A	NM_000052.7(ATP7A):c.3799C>T:p.Gln1267Ter	coding	Pathogenic
X	78042666	C	A	C78042666A	ATP7A	NM_000052.7(ATP7A):c.3883C>A:p.Arg1295=	coding	Benign
X	78042666	C	T	C78042666T	ATP7A	NM_000052.7(ATP7A):c.3883C>T:p.Arg1295Trp	coding	Benign/Likely_benign
X	78043307	C	T	C78043307T	ATP7A	NM_000052.7(ATP7A):c.4006-10C>T	noncoding	Benign
X	78043396	C	T	C78043396T	ATP7A	NM_000052.7(ATP7A):c.4085C>T:p.Ala1362Val	coding	Pathogenic
X	78043437	A	T	A78043437T	ATP7A	NM_000052.7(ATP7A):c.4123+3A>T	noncoding	Pathogenic
X	78045552	T	C	T78045552C	ATP7A	NM_000052.7(ATP7A):c.4206T>C:p.Leu1402=	coding	Benign
X	78046373	G	A	G78046373A	ATP7A	NM_000052.7(ATP7A):c.4306G>A:p.Val1436Ile	coding	Benign
X	78046778	A	G	A78046778G	ATP7A	NM_000052.7(ATP7A):c.*208A>G	noncoding	Benign
X	78046837	A	G	A78046837G	ATP7A	NM_000052.7(ATP7A):c.*267A>G	noncoding	Benign
X	78104228	C	T	C78104228T	PGK1	Single_allele	noncoding	Benign
X	78113756	T	C	T78113756C	PGK1	NM_000291.4(PGK1):c.129T>C:p.Ala43=	coding	Benign
X	78113770	A	G	A78113770G	PGK1	NM_000291.4(PGK1):c.143A>G:p.Lys48Arg	coding	Benign
X	78114099	T	C	T78114099C	PGK1	NM_000291.4(PGK1):c.356T>C:p.Leu119Pro	coding	Benign
X	78118081	G	C	G78118081C	PGK1	NM_000291.4(PGK1):c.552G>C:p.Lys184Asn	coding	Benign
X	78122815	A	C	A78122815C	PGK1	NM_000291.4(PGK1):c.642-20A>C	noncoding	Benign
X	78122826	C	T	C78122826T	PGK1	NM_000291.4(PGK1):c.642-9C>T	noncoding	Benign
X	78123326	C	G	C78123326G	PGK1	NM_000291.4(PGK1):c.888C>G:p.Ala296=	coding	Benign
X	78123613	T	G	T78123613G	PGK1	NM_000291.4(PGK1):c.936+239T>G	noncoding	Benign
X	78124810	G	C	G78124810C	PGK1	NM_000291.4(PGK1):c.937-64G>C	noncoding	Benign
X	78124866	C	T	C78124866T	PGK1	NM_000291.4(PGK1):c.937-8C>T	noncoding	Benign
X	79170974	C	T	C79170974T	GPR174	NM_032553.3(GPR174):c.-34C>T	noncoding	Benign
X	79170991	T	C	T79170991C	GPR174	NM_032553.3(GPR174):c.-17T>C	noncoding	Benign
X	80025898	T	C	T80025898C	TBX22	NM_001109878.2(TBX22):c.633+121T>C	noncoding	Benign
X	80027889	T	C	T80027889C	TBX22	NM_001109878.2(TBX22):c.864-102T>C	noncoding	Benign
X	80681419	C	A	C80681419A	BRWD3	NM_153252.5(BRWD3):c.4576G>T:p.Gly1526Ter	coding	Pathogenic
X	80681585	G	A	G80681585A	BRWD3	NM_153252.5(BRWD3):c.4496-86C>T	noncoding	Benign
X	80681634	T	C	T80681634C	BRWD3	NM_153252.5(BRWD3):c.4496-135A>G	noncoding	Benign
X	80682118	C	T	C80682118T	BRWD3	NM_153252.5(BRWD3):c.4398-24G>A	noncoding	Benign
X	80682208	G	T	G80682208T	BRWD3	NM_153252.5(BRWD3):c.4398-114C>A	noncoding	Benign
X	80682459	T	C	T80682459C	BRWD3	NM_153252.5(BRWD3):c.4397+6A>G	noncoding	Benign
X	80683739	C	T	C80683739T	BRWD3	NM_153252.5(BRWD3):c.4233+271G>A	noncoding	Benign
X	80684415	A	G	A80684415G	BRWD3	NM_153252.5(BRWD3):c.4081-253T>C	noncoding	Benign
X	80686892	G	A	G80686892A	BRWD3	NM_153252.5(BRWD3):c.3976C>T:p.Arg1326Ter	coding	Pathogenic
X	80687296	C	G	C80687296G	BRWD3	NM_153252.5(BRWD3):c.3865-293G>C	noncoding	Benign
X	80689847	C	G	C80689847G	BRWD3	NM_153252.5(BRWD3):c.3729-1G>C	coding	Pathogenic
X	80690403	A	T	A80690403T	BRWD3	NM_153252.5(BRWD3):c.3603-311T>A	noncoding	Benign
X	80691687	C	A	C80691687A	BRWD3	NM_153252.5(BRWD3):c.3481+136G>T	noncoding	Benign
X	80691891	C	A	C80691891A	BRWD3	NM_153252.5(BRWD3):c.3413G>T:p.Trp1138Leu	coding	Pathogenic
X	80692334	C	T	C80692334T	BRWD3	NM_153252.5(BRWD3):c.3264-184G>A	noncoding	Benign
X	80692665	A	G	A80692665G	BRWD3	NM_153252.5(BRWD3):c.3263+275T>C	noncoding	Benign
X	80693381	C	G	C80693381G	BRWD3	NM_153252.5(BRWD3):c.3152-330G>C	noncoding	Benign
X	80695730	A	T	A80695730T	BRWD3	NM_153252.5(BRWD3):c.3151+178T>A	noncoding	Benign
X	80700309	G	A	G80700309A	BRWD3	NM_153252.5(BRWD3):c.2836-245C>T	noncoding	Benign
X	80703745	C	T	C80703745T	BRWD3	NM_153252.5(BRWD3):c.2722-152G>A	noncoding	Benign
X	80709557	A	G	A80709557G	BRWD3	NM_153252.5(BRWD3):c.2346T>C:p.Cys782=	coding	Benign/Likely_benign
X	80709899	G	T	G80709899T	BRWD3	NM_153252.5(BRWD3):c.2326-322C>A	noncoding	Benign
X	80722407	C	T	C80722407T	BRWD3	NM_153252.5(BRWD3):c.1876+155G>A	noncoding	Benign
X	80722833	A	T	A80722833T	BRWD3	NM_153252.5(BRWD3):c.1651-46T>A	noncoding	Benign
X	80723528	T	C	T80723528C	BRWD3	NM_153252.5(BRWD3):c.1650+220A>G	noncoding	Benign
X	80723691	A	G	A80723691G	BRWD3	NM_153252.5(BRWD3):c.1650+57T>C	noncoding	Benign
X	80728445	C	T	C80728445T	BRWD3	NM_153252.5(BRWD3):c.1386+307G>A	noncoding	Benign
X	80728720	C	T	C80728720T	BRWD3	NM_153252.5(BRWD3):c.1386+32G>A	noncoding	Benign
X	80729613	A	G	A80729613G	BRWD3	NM_153252.5(BRWD3):c.1232+303T>C	noncoding	Benign
X	80730142	C	A	C80730142A	BRWD3	NM_153252.5(BRWD3):c.1128-122G>T	noncoding	Benign
X	80730172	A	C	A80730172C	BRWD3	NM_153252.5(BRWD3):c.1128-152T>G	noncoding	Benign
X	80733437	A	G	A80733437G	BRWD3	NM_153252.5(BRWD3):c.1127+19T>C	noncoding	Benign
X	80733510	C	G	C80733510G	BRWD3	NM_153252.5(BRWD3):c.1087-14G>C	noncoding	Benign
X	80733519	C	G	C80733519G	BRWD3	NM_153252.5(BRWD3):c.1087-23G>C	noncoding	Benign
X	80735673	G	A	G80735673A	BRWD3	NM_153252.5(BRWD3):c.914+315C>T	noncoding	Benign
X	80736255	C	T	C80736255T	BRWD3	NM_153252.5(BRWD3):c.814-167G>A	noncoding	Benign
X	80743847	A	T	A80743847T	BRWD3	NM_153252.5(BRWD3):c.813+185T>A	noncoding	Benign
X	80793499	C	T	C80793499T	BRWD3	NM_153252.5(BRWD3):c.331+123G>A	noncoding	Benign
X	80809136	T	C	T80809136C	BRWD3	NM_153252.5(BRWD3):c.91-94A>G	noncoding	Benign
X	80809458	G	C	G80809458C	BRWD3	NM_153252.5(BRWD3):c.14C>G:p.Pro5Arg	coding	Benign
X	83508142	G	T	G83508142T	POU3F4	Single_allele	noncoding	Benign
X	83508742	A	C	A83508742C	POU3F4	NM_000307.5(POU3F4):c.418A>C:p.Thr140Pro	coding	Benign
X	83508854	C	A	C83508854A	POU3F4	NM_000307.5(POU3F4):c.530C>A:p.Ser177Ter	coding	Pathogenic
X	83508942	C	A	C83508942A	POU3F4	NM_000307.5(POU3F4):c.618C>A:p.Ile206=	coding	Benign
X	83508993	T	A	T83508993A	POU3F4	NM_000307.5(POU3F4):c.669T>A:p.Tyr223Ter	coding	Pathogenic
X	83509032	G	A	G83509032A	POU3F4	NM_000307.5(POU3F4):c.708G>A:p.Glu236=	coding	Benign
X	83509034	C	G	C83509034G	POU3F4	NM_000307.5(POU3F4):c.710C>G:p.Ala237Gly	coding	Benign
X	83509240	C	T	C83509240T	POU3F4	NM_000307.5(POU3F4):c.916C>T:p.Gln306Ter	coding	Pathogenic
X	84065009	C	T	C84065009T	RPS6KA6	NM_014496.5(RPS6KA6):c.2074G>A:p.Asp692Asn	coding	Benign
X	85265053	T	C	T85265053C	ZNF711	NM_001330574.2(ZNF711):c.779-65T>C	noncoding	Benign
X	85265099	G	A	G85265099A	ZNF711	NM_001330574.2(ZNF711):c.779-19G>A	noncoding	Benign
X	85267998	T	C	T85267998C	ZNF711	NM_001330574.2(ZNF711):c.1055-296T>C	noncoding	Benign
X	85269848	T	A	T85269848A	ZNF711	NM_001330574.2(ZNF711):c.1103-155T>A	noncoding	Benign
X	85270166	A	G	A85270166G	ZNF711	NM_001330574.2(ZNF711):c.1246+20A>G	noncoding	Benign
X	85864663	T	G	T85864663G	CHM	NM_000390.4(CHM):c.1929A>C:p.Thr643=	coding	Benign
X	85864759	A	G	A85864759G	CHM	NM_000390.4(CHM):c.1833T>C:p.Pro611=	coding	Benign
X	85864933	A	C	A85864933C	CHM	NM_000390.4(CHM):c.1771-112T>G	noncoding	Benign
X	85864950	A	T	A85864950T	CHM	NM_000390.4(CHM):c.1771-129T>A	noncoding	Benign
X	85872903	T	C	T85872903C	CHM	NM_000390.4(CHM):c.1770+149A>G	noncoding	Benign
X	85873064	A	G	A85873064G	CHM	NM_000390.4(CHM):c.1758T>C:p.Asn586=	coding	Benign
X	85873127	A	C	A85873127C	CHM	NM_000390.4(CHM):c.1695T>G:p.Tyr565Ter	coding	Pathogenic
X	85873127	A	G	A85873127G	CHM	NM_000390.4(CHM):c.1695T>C:p.Tyr565=	coding	Benign
X	85873152	G	T	G85873152T	CHM	NM_000390.4(CHM):c.1670C>A:p.Ser557Ter	coding	Pathogenic
X	85873159	T	A	T85873159A	CHM	NM_000390.4(CHM):c.1663A>T:p.Arg555Ter	coding	Pathogenic
X	85873169	G	T	G85873169T	CHM	NM_000390.4(CHM):c.1653C>A:p.Tyr551Ter	coding	Pathogenic
X	85873202	T	C	T85873202C	CHM	NM_000390.4(CHM):c.1620A>G:p.Gln540=	coding	Benign
X	85879009	G	C	G85879009C	CHM	NM_000390.4(CHM):c.1565C>G:p.Ser522Ter	coding	Pathogenic
X	85879009	G	T	G85879009T	CHM	NM_000390.4(CHM):c.1565C>A:p.Ser522Ter	coding	Pathogenic
X	85879079	T	A	T85879079A	CHM	NM_000390.4(CHM):c.1511-16A>T	noncoding	Benign
X	85894213	T	C	T85894213C	CHM	NM_000390.4(CHM):c.1485A>G:p.Ser495=	coding	Benign
X	85894285	C	T	C85894285T	CHM	NM_000390.4(CHM):c.1414-1G>A	coding	Pathogenic
X	85894409	G	C	G85894409C	CHM	NM_000390.4(CHM):c.1414-125C>G	noncoding	Benign
X	85900689	A	G	A85900689G	CHM	NM_000390.4(CHM):c.1370T>C:p.Leu457Pro	coding	Pathogenic
X	85900710	C	T	C85900710T	CHM	NM_000390.4(CHM):c.1350-1G>A	coding	Pathogenic
X	85901030	A	G	A85901030G	CHM	NM_000390.4(CHM):c.1349+54T>C	noncoding	Benign
X	85901070	G	A	G85901070A	CHM	NM_000390.4(CHM):c.1349+14C>T	noncoding	Benign
X	85901096	C	T	C85901096T	CHM	NM_000390.4(CHM):c.1337G>A:p.Arg446His	coding	Benign
X	85901190	T	C	T85901190C	CHM	NM_000390.4(CHM):c.1245-2A>G	noncoding	Pathogenic
X	85911271	C	A	C85911271A	CHM	NM_000390.4(CHM):c.1234G>T:p.Glu412Ter	coding	Pathogenic
X	85911311	A	C	A85911311C	CHM	NM_000390.4(CHM):c.1194T>G:p.Tyr398Ter	coding	Pathogenic
X	85911320	A	G	A85911320G	CHM	NM_000390.4(CHM):c.1185T>C:p.Gly395=	coding	Benign
X	85911340	T	C	T85911340C	CHM	NM_000390.4(CHM):c.1167-2A>G	noncoding	Pathogenic
X	85956144	C	T	C85956144T	CHM	NM_000390.4(CHM):c.1166+9G>A	noncoding	Benign
X	85956151	A	C	A85956151C	CHM	NM_000390.4(CHM):c.1166+2T>G	noncoding	Pathogenic
X	85956152	C	G	C85956152G	CHM	NM_000390.4(CHM):c.1166+1G>C	noncoding	Pathogenic
X	85956166	G	A	G85956166A	CHM	NM_000390.4(CHM):c.1153C>T:p.Gln385Ter	coding	Pathogenic
X	85956253	T	A	T85956253A	CHM	NM_000390.4(CHM):c.1066A>T:p.Lys356Ter	coding	Pathogenic
X	85956340	G	A	G85956340A	CHM	NM_000390.4(CHM):c.979C>T:p.Gln327Ter	coding	Pathogenic
X	85956380	T	C	T85956380C	CHM	NM_000390.4(CHM):c.941-2A>G	noncoding	Pathogenic
X	85957733	G	T	G85957733T	CHM	NM_000390.4(CHM):c.940+122C>A	noncoding	Benign
X	85957734	A	G	A85957734G	CHM	NM_000390.4(CHM):c.940+121T>C	noncoding	Benign
X	85957835	C	G	C85957835G	CHM	NM_000390.4(CHM):c.940+20G>C	noncoding	Benign
X	85957837	A	G	A85957837G	CHM	NM_000390.4(CHM):c.940+18T>C	noncoding	Benign
X	85957853	A	G	A85957853G	CHM	NM_000390.4(CHM):c.940+2T>C	noncoding	Pathogenic
X	85957885	C	A	C85957885A	CHM	NM_000390.4(CHM):c.910G>T:p.Glu304Ter	coding	Pathogenic
X	85957939	G	A	G85957939A	CHM	NM_000390.4(CHM):c.856C>T:p.Gln286Ter	coding	Pathogenic
X	85957976	C	G	C85957976G	CHM	NM_000390.4(CHM):c.820-1G>C	coding	Pathogenic
X	85957994	T	C	T85957994C	CHM	NM_000390.4(CHM):c.820-19A>G	noncoding	Benign
X	85958022	A	C	A85958022C	CHM	NM_000390.4(CHM):c.820-47T>G	noncoding	Benign
X	85958185	C	T	C85958185T	CHM	NM_000390.4(CHM):c.820-210G>A	noncoding	Benign
X	85958845	T	A	T85958845A	CHM	NM_000390.4(CHM):c.819+16A>T	noncoding	Benign
X	85958863	G	A	G85958863A	CHM	NM_000390.4(CHM):c.817C>T:p.Gln273Ter	coding	Pathogenic
X	85958867	C	G	C85958867G	CHM	NM_000390.4(CHM):c.813G>C:p.Val271=	coding	Benign
X	85958979	T	C	T85958979C	CHM	NM_000390.4(CHM):c.703-2A>G	noncoding	Pathogenic
X	85963667	T	A	T85963667A	CHM	NM_000390.4(CHM):c.700A>T:p.Lys234Ter	coding	Pathogenic
X	85963714	G	C	G85963714C	CHM	NM_000390.4(CHM):c.653C>G:p.Ser218Ter	coding	Pathogenic/Likely_pathogenic
X	85963716	G	A	G85963716A	CHM	NM_000390.4(CHM):c.651C>T:p.Tyr217=	coding	Benign
X	85963733	T	A	T85963733A	CHM	NM_000390.4(CHM):c.634A>T:p.Lys212Ter	coding	Pathogenic
X	85963743	C	T	C85963743T	CHM	NM_000390.4(CHM):c.624G>A:p.Glu208=	coding	Benign
X	85963798	G	C	G85963798C	CHM	NM_000390.4(CHM):c.569C>G:p.Ser190Ter	coding	Pathogenic
X	85963824	A	G	A85963824G	CHM	NM_000390.4(CHM):c.543T>C:p.His181=	coding	Benign
X	85963853	C	T	C85963853T	CHM	NM_000390.4(CHM):c.514G>A:p.Ala172Thr	coding	Benign
X	85963920	C	A	C85963920A	CHM	NM_000390.4(CHM):c.447G>T:p.Met149Ile	coding	Benign
X	85963930	A	C	A85963930C	CHM	NM_000390.4(CHM):c.437T>G:p.Leu146Ter	coding	Pathogenic
X	85963980	G	A	G85963980A	CHM	NM_000390.4(CHM):c.387C>T:p.Asn129=	coding	Benign
X	85964054	T	G	T85964054G	CHM	NM_000390.4(CHM):c.315-2A>C	noncoding	Pathogenic
X	85964058	A	G	A85964058G	CHM	NM_000390.4(CHM):c.315-6T>C	noncoding	Benign
X	85965507	C	T	C85965507T	CHM	NM_000390.4(CHM):c.315-1455G>A	noncoding	Benign
X	85965593	G	T	G85965593T	CHM	NM_000390.4(CHM):c.315-1541C>A	noncoding	Benign
X	85965595	A	G	A85965595G	CHM	NM_000390.4(CHM):c.315-1543T>C	noncoding	Benign
X	85965775	T	C	T85965775C	CHM	NM_000390.4(CHM):c.315-1723A>G	noncoding	Benign
X	85965801	G	A	G85965801A	CHM	NM_000390.4(CHM):c.315-1749C>T	noncoding	Benign
X	85965815	T	A	T85965815A	CHM	NM_000390.4(CHM):c.315-1763A>T	noncoding	Benign
X	85978443	T	C	T85978443C	CHM	NM_000390.4(CHM):c.314+324A>G	noncoding	Benign
X	85978507	A	G	A85978507G	CHM	NM_000390.4(CHM):c.314+260T>C	noncoding	Benign
X	85978772	A	C	A85978772C	CHM	NM_000390.4(CHM):c.309T>G:p.Tyr103Ter	coding	Pathogenic
X	85978786	C	A	C85978786A	CHM	NM_000390.4(CHM):c.295G>T:p.Glu99Ter	coding	Pathogenic
X	85978849	G	A	G85978849A	CHM	NM_000390.4(CHM):c.232C>T:p.Gln78Ter	coding	Pathogenic
X	85978857	C	T	C85978857T	CHM	NM_000390.4(CHM):c.224G>A:p.Trp75Ter	coding	Pathogenic
X	85978876	C	G	C85978876G	CHM	NM_000390.4(CHM):c.205G>C:p.Val69Leu	coding	Benign
X	85981736	C	G	C85981736G	CHM	NM_000390.4(CHM):c.189+1G>C	noncoding	Pathogenic/Likely_pathogenic
X	85981739	G	A	G85981739A	CHM	NM_000390.4(CHM):c.187C>T:p.Gln63Ter	coding	Pathogenic
X	85981759	A	T	A85981759T	CHM	NM_000390.4(CHM):c.167T>A:p.Leu56Ter	coding	Pathogenic
X	86027411	G	A	G86027411A	CHM	NM_000390.4(CHM):c.116+80C>T	noncoding	Benign
X	86027478	T	C	T86027478C	CHM	NM_000390.4(CHM):c.116+13A>G	noncoding	Benign
X	86027565	A	C	A86027565C	CHM	NM_000390.4(CHM):c.50-8T>G	noncoding	Benign
X	86027575	C	T	C86027575T	CHM	NM_000390.4(CHM):c.50-18G>A	noncoding	Benign
X	86027576	G	A	G86027576A	CHM	NM_000390.4(CHM):c.50-19C>T	noncoding	Benign
X	86047481	T	C	T86047481C	CHM	NM_000390.4(CHM):c.49+3A>G	noncoding	Pathogenic
X	86047504	T	C	T86047504C	CHM	NM_000390.4(CHM):c.29A>G:p.Asp10Gly	coding	Benign
X	96937224	A	G	A96937224G	DIAPH2	NM_006729.5(DIAPH2):c.1090-9A>G	noncoding	Benign
X	100296312	G	A	G100296312A	PCDH19	NM_001184880.2(PCDH19):c.3412C>T:p.Pro1138Ser	coding	Benign/Likely_benign
X	100296404	C	T	C100296404T	PCDH19	NM_001184880.2(PCDH19):c.3320G>A:p.Arg1107His	coding	Benign/Likely_benign
X	100296489	G	C	G100296489C	PCDH19	NM_001184880.2(PCDH19):c.3235C>G:p.Pro1079Ala	coding	Benign/Likely_benign
X	100341961	A	G	A100341961G	PCDH19	NM_001184880.2(PCDH19):c.2790T>C:p.Ala930=	coding	Benign/Likely_benign
X	100341987	G	A	G100341987A	PCDH19	NM_001184880.2(PCDH19):c.2764C>T:p.Gln922Ter	coding	Pathogenic
X	100342023	C	A	C100342023A	PCDH19	NM_001184880.2(PCDH19):c.2728G>T:p.Glu910Ter	coding	Pathogenic/Likely_pathogenic
X	100350645	C	T	C100350645T	PCDH19	NM_001184880.2(PCDH19):c.2675+1G>A	noncoding	Pathogenic
X	100350675	G	C	G100350675C	PCDH19	NM_001184880.2(PCDH19):c.2646C>G:p.Tyr882Ter	coding	Pathogenic
X	100402565	G	A	G100402565A	PCDH19	NM_001184880.2(PCDH19):c.2575C>T:p.Gln859Ter	coding	Pathogenic
X	100402802	T	A	T100402802A	PCDH19	NM_001184880.2(PCDH19):c.2338A>T:p.Lys780Ter	coding	Pathogenic
X	100403549	C	A	C100403549A	PCDH19	NM_001184880.2(PCDH19):c.2263G>T:p.Glu755Ter	coding	Pathogenic
X	100406916	G	A	G100406916A	PCDH19	NM_001184880.2(PCDH19):c.1682C>T:p.Pro561Leu	coding	Pathogenic
X	100406917	G	A	G100406917A	PCDH19	NM_001184880.2(PCDH19):c.1681C>T:p.Pro561Ser	coding	Pathogenic
X	100407063	G	T	G100407063T	PCDH19	NM_001184880.2(PCDH19):c.1535C>A:p.Ser512Ter	coding	Pathogenic
X	100407223	G	A	G100407223A	PCDH19	NM_001184880.2(PCDH19):c.1375C>T:p.Gln459Ter	coding	Pathogenic
X	100407259	T	C	T100407259C	PCDH19	NM_001184880.2(PCDH19):c.1339A>G:p.Asn447Asp	coding	Pathogenic
X	100407301	G	T	G100407301T	PCDH19	NM_001184880.2(PCDH19):c.1297C>A:p.Leu433Met	coding	Pathogenic
X	100407387	G	A	G100407387A	PCDH19	NM_001184880.2(PCDH19):c.1211C>T:p.Thr404Ile	coding	Pathogenic
X	100407401	A	C	A100407401C	PCDH19	NM_001184880.2(PCDH19):c.1197T>G:p.Tyr399Ter	coding	Pathogenic
X	100407406	C	A	C100407406A	PCDH19	NM_001184880.2(PCDH19):c.1192G>T:p.Glu398Ter	coding	Pathogenic
X	100407409	G	A	G100407409A	PCDH19	NM_001184880.2(PCDH19):c.1189C>T:p.Gln397Ter	coding	Pathogenic
X	100407468	T	A	T100407468A	PCDH19	NM_001184880.2(PCDH19):c.1130A>T:p.Asp377Val	coding	Pathogenic
X	100407576	T	C	T100407576C	PCDH19	NM_001184880.2(PCDH19):c.1022A>G:p.Asp341Gly	coding	Pathogenic
X	100407631	G	T	G100407631T	PCDH19	NM_001184880.2(PCDH19):c.967C>A:p.Pro323Thr	coding	Pathogenic
X	100407649	G	A	G100407649A	PCDH19	NM_001184880.2(PCDH19):c.949C>T:p.Gln317Ter	coding	Pathogenic
X	100407758	G	T	G100407758T	PCDH19	NM_001184880.2(PCDH19):c.840C>A:p.Tyr280Ter	coding	Pathogenic
X	100407852	T	C	T100407852C	PCDH19	NM_001184880.2(PCDH19):c.746A>G:p.Glu249Gly	coding	Pathogenic
X	100407869	G	T	G100407869T	PCDH19	NM_001184880.2(PCDH19):c.729C>A:p.Tyr243Ter	coding	Pathogenic
X	100407891	G	A	G100407891A	PCDH19	NM_001184880.2(PCDH19):c.707C>T:p.Pro236Leu	coding	Pathogenic/Likely_pathogenic
X	100407891	G	C	G100407891C	PCDH19	NM_001184880.2(PCDH19):c.707C>G:p.Pro236Arg	coding	Pathogenic/Likely_pathogenic
X	100407962	G	C	G100407962C	PCDH19	NM_001184880.2(PCDH19):c.636C>G:p.Asp212Glu	coding	Pathogenic
X	100408005	C	A	C100408005A	PCDH19	NM_001184880.2(PCDH19):c.593G>T:p.Arg198Leu	coding	Pathogenic/Likely_pathogenic
X	100408021	C	A	C100408021A	PCDH19	NM_001184880.2(PCDH19):c.577G>T:p.Glu193Ter	coding	Pathogenic
X	100408105	T	G	T100408105G	PCDH19	NM_001184880.2(PCDH19):c.493A>C:p.Thr165Pro	coding	Pathogenic
X	100408135	C	G	C100408135G	PCDH19	NM_001184880.2(PCDH19):c.463G>C:p.Asp155His	coding	Pathogenic
X	100408153	G	A	G100408153A	PCDH19	NM_001184880.2(PCDH19):c.445C>T:p.Pro149Ser	coding	Pathogenic
X	100408189	C	A	C100408189A	PCDH19	NM_001184880.2(PCDH19):c.409G>T:p.Glu137Ter	coding	Pathogenic/Likely_pathogenic
X	100408224	T	C	T100408224C	PCDH19	NM_001184880.2(PCDH19):c.374A>G:p.Asn125Ser	coding	Pathogenic/Likely_pathogenic
X	100408236	T	G	T100408236G	PCDH19	NM_001184880.2(PCDH19):c.362A>C:p.Asp121Ala	coding	Pathogenic
X	100408356	A	C	A100408356C	PCDH19	NM_001184880.2(PCDH19):c.242T>G:p.Leu81Arg	coding	Pathogenic
X	100408501	G	A	G100408501A	PCDH19	NM_001184880.2(PCDH19):c.97C>T:p.Gln33Ter	coding	Pathogenic
X	100408546	G	A	G100408546A	PCDH19	NM_001184880.2(PCDH19):c.52C>T:p.Gln18Ter	coding	Pathogenic
X	100408637	C	T	C100408637T	PCDH19	NM_001184880.2(PCDH19):c.-40G>A	noncoding	Benign
X	100409020	G	A	G100409020A	PCDH19	NM_001184880.2(PCDH19):c.-423C>T	noncoding	Benign
X	100409085	C	G	C100409085G	PCDH19	NM_001184880.2(PCDH19):c.-488G>C	noncoding	Benign
X	100644247	G	C	G100644247C	SRPX2	NM_014467.3(SRPX2):c.-399G>C	noncoding	Benign
X	100650685	T	C	T100650685C	SRPX2	NM_014467.3(SRPX2):c.83-100T>C	noncoding	Benign
X	100651156	T	G	T100651156G	SRPX2	NM_014467.3(SRPX2):c.163+291T>G	noncoding	Benign
X	100662151	G	T	G100662151T	SRPX2	NM_014467.3(SRPX2):c.164-25G>T	noncoding	Benign
X	100662519	C	A	C100662519A	SRPX2	NM_014467.3(SRPX2):c.355+152C>A	noncoding	Benign
X	100664569	C	A	C100664569A	SRPX2	NM_014467.3(SRPX2):c.356-205C>A	noncoding	Benign
X	100666781	C	T	C100666781T	SRPX2	NM_014467.3(SRPX2):c.809C>T:p.Pro270Leu	coding	Benign/Likely_benign
X	100669129	T	C	T100669129C	SRPX2	NM_014467.3(SRPX2):c.1096-119T>C	noncoding	Benign
X	100669405	G	C	G100669405C	SRPX2	NM_014467.3(SRPX2):c.1217+36G>C	noncoding	Benign
X	101231523	G	A	G101231523A	DRP2	NM_001939.3(DRP2):c.-63-62G>A	noncoding	Benign
X	101235691	A	G	A101235691G	DRP2	NM_001939.3(DRP2):c.118-169A>G	noncoding	Benign
X	101235922	C	A	C101235922A	DRP2	NM_001939.3(DRP2):c.180C>A:p.Ser60Arg	coding	Benign
X	101235931	G	T	G101235931T	DRP2	NM_001939.3(DRP2):c.189G>T:p.Leu63=	coding	Benign
X	101235944	G	C	G101235944C	DRP2	NM_001939.3(DRP2):c.202G>C:p.Val68Leu	coding	Benign
X	101237784	G	A	G101237784A	DRP2	NM_001939.3(DRP2):c.438+9G>A	noncoding	Benign
X	101239066	T	G	T101239066G	DRP2	NM_001939.3(DRP2):c.524T>G:p.Phe175Cys	coding	Benign
X	101239108	G	T	G101239108T	DRP2	NM_001939.3(DRP2):c.559+7G>T	noncoding	Benign
X	101241474	T	A	T101241474A	DRP2	NM_001939.3(DRP2):c.560-194T>A	noncoding	Benign
X	101242108	C	T	C101242108T	DRP2	NM_001939.3(DRP2):c.828+172C>T	noncoding	Benign
X	101242909	A	G	A101242909G	DRP2	NM_001939.3(DRP2):c.981A>G:p.Ser327=	coding	Benign
X	101248130	G	T	G101248130T	DRP2	NM_001939.3(DRP2):c.1294G>T:p.Glu432Ter	coding	Pathogenic
X	101248229	C	T	C101248229T	DRP2	NM_001939.3(DRP2):c.1393C>T:p.Leu465=	coding	Benign
X	101248295	G	A	G101248295A	DRP2	NM_001939.3(DRP2):c.1454+5G>A	noncoding	Benign
X	101248298	C	T	C101248298T	DRP2	NM_001939.3(DRP2):c.1454+8C>T	noncoding	Benign
X	101248592	A	G	A101248592G	DRP2	NM_001939.3(DRP2):c.1533A>G:p.Lys511=	coding	Benign
X	101250493	G	A	G101250493A	DRP2	NM_001939.3(DRP2):c.1611G>A:p.Glu537=	coding	Benign
X	101250628	G	C	G101250628C	DRP2	NM_001939.3(DRP2):c.1698+48G>C	noncoding	Benign
X	101250727	C	G	C101250727G	DRP2	NM_001939.3(DRP2):c.1698+147C>G	noncoding	Benign
X	101250892	C	G	C101250892G	DRP2	NM_001939.3(DRP2):c.1699-25C>G	noncoding	Benign
X	101250923	G	A	G101250923A	DRP2	NM_001939.3(DRP2):c.1705G>A:p.Gly569Arg	coding	Benign
X	101255448	A	G	A101255448G	DRP2	NM_001939.3(DRP2):c.2246+199A>G	noncoding	Benign
X	101256109	C	T	C101256109T	DRP2	NM_001939.3(DRP2):c.2247-9C>T	noncoding	Benign
X	101256221	G	T	G101256221T	DRP2	NM_001939.3(DRP2):c.2350G>T:p.Glu784Ter	coding	Pathogenic
X	101258196	G	A	G101258196A	DRP2	NM_001939.3(DRP2):c.2391-113G>A	noncoding	Benign
X	101258292	G	A	G101258292A	DRP2	NM_001939.3(DRP2):c.2391-17G>A	noncoding	Benign
X	101258486	C	T	C101258486T	DRP2	NM_001939.3(DRP2):c.2568C>T:p.Leu856=	coding	Benign
X	101259997	G	A	G101259997A	DRP2	NM_001939.3(DRP2):c.2629-52G>A	noncoding	Benign
X	101260153	A	G	A101260153G	DRP2	NM_001939.3(DRP2):c.2733A>G:p.Pro911=	coding	Benign
X	101260343	A	G	A101260343G	DRP2	NM_001939.3(DRP2):c.2750-154A>G	noncoding	Benign
X	101260803	A	G	A101260803G	DRP2	NM_001939.3(DRP2):c.*182A>G	noncoding	Benign
X	101346535	T	C	T101346535C	TIMM8A	NM_004085.4(TIMM8A):c.258A>G:p.Lys86=	coding	Benign
X	101346542	G	A	G101346542A	TIMM8A	NM_004085.4(TIMM8A):c.251C>T:p.Thr84Ile	coding	Benign/Likely_benign
X	101346577	A	G	A101346577G	TIMM8A	NM_004085.4(TIMM8A):c.216T>C:p.Asp72=	coding	Benign/Likely_benign
X	101346854	C	T	C101346854T	TIMM8A	NM_004085.4(TIMM8A):c.133-194G>A	noncoding	Benign
X	101346929	A	G	A101346929G	TIMM8A	NM_004085.4(TIMM8A):c.133-269T>C	noncoding	Benign
X	101348489	G	A	G101348489A	TIMM8A	NM_004085.4(TIMM8A):c.132+44C>T	noncoding	Benign
X	101349188	C	T	C101349188T	TIMM8A	Single_allele	noncoding	Benign
X	101349934	A	G	A101349934G	BTK	NM_000061.3(BTK):c.1931T>C:p.Phe644Ser	coding	Pathogenic
X	101349943	C	T	C101349943T	BTK	NM_000061.3(BTK):c.1922G>A:p.Arg641His	coding	Pathogenic
X	101353268	G	A	G101353268A	BTK	NM_000061.3(BTK):c.1834C>T:p.Gln612Ter	coding	Pathogenic
X	101353310	A	T	A101353310T	BTK	NM_000061.3(BTK):c.1792T>A:p.Tyr598Asn	coding	Pathogenic
X	101353321	C	T	C101353321T	BTK	NM_000061.3(BTK):c.1781G>A:p.Gly594Glu	coding	Pathogenic
X	101353860	A	G	A101353860G	BTK	NM_000061.3(BTK):c.1750+10T>C	noncoding	Benign
X	101353921	C	A	C101353921A	BTK	NM_000061.3(BTK):c.1699G>T:p.Glu567Ter	coding	Pathogenic
X	101353922	C	T	C101353922T	BTK	NM_000061.3(BTK):c.1698G>A:p.Pro566=	coding	Benign
X	101354559	G	A	G101354559A	BTK	NM_000061.3(BTK):c.1631+71C>T	noncoding	Benign
X	101356034	A	G	A101356034G	BTK	NM_000061.3(BTK):c.1566+18T>C	noncoding	Benign
X	101356083	A	G	A101356083G	BTK	NM_000061.3(BTK):c.1535T>C:p.Leu512Pro	coding	Pathogenic
X	101356113	C	T	C101356113T	BTK	NM_000061.3(BTK):c.1505G>A:p.Cys502Tyr	coding	Pathogenic
X	101356219	G	A	G101356219A	BTK	NM_000061.3(BTK):c.1399C>T:p.Gln467Ter	coding	Pathogenic
X	101356239	A	T	A101356239T	BTK	NM_000061.3(BTK):c.1379T>A:p.Leu460Ter	coding	Pathogenic
X	101356285	G	T	G101356285T	BTK	NM_000061.3(BTK):c.1350-17C>A	noncoding	Benign
X	101356444	G	A	G101356444A	BTK	NM_000061.3(BTK):c.1350-176C>T	noncoding	Benign
X	101356783	C	T	C101356783T	BTK	NM_000061.3(BTK):c.1349+1G>A	noncoding	Pathogenic
X	101356857	C	T	C101356857T	BTK	NM_000061.3(BTK):c.1276G>A:p.Asp426Asn	coding	Benign
X	101357510	G	T	G101357510T	BTK	NM_000061.3(BTK):c.1176C>A:p.Tyr392Ter	coding	Pathogenic
X	101357580	A	G	A101357580G	BTK	NM_000061.3(BTK):c.1106T>C:p.Leu369Pro	coding	Pathogenic
X	101357582	T	C	T101357582C	BTK	NM_000061.3(BTK):c.1104A>G:p.Gly368=	coding	Benign
X	101357594	G	C	G101357594C	BTK	NM_000061.3(BTK):c.1103-11C>G	noncoding	Benign
X	101358310	C	A	C101358310A	BTK	NM_000061.3(BTK):c.1102G>T:p.Gly368Ter	coding	Pathogenic
X	101358327	T	C	T101358327C	BTK	NM_000061.3(BTK):c.1085A>G:p.His362Arg	coding	Pathogenic
X	101358438	C	A	C101358438A	BTK	NM_000061.3(BTK):c.975-1G>T	coding	Pathogenic
X	101358698	T	C	T101358698C	BTK	NM_000061.3(BTK):c.895-2A>G	noncoding	Pathogenic/Likely_pathogenic
X	101358706	C	T	C101358706T	BTK	NM_000061.3(BTK):c.895-10G>A	noncoding	Benign/Likely_benign
X	101359325	G	A	G101359325A	BTK	NM_000061.3(BTK):c.862C>T:p.Arg288Trp	coding	Pathogenic/Likely_pathogenic
X	101359345	C	T	C101359345T	BTK	NM_000061.3(BTK):c.842G>A:p.Trp281Ter	coding	Pathogenic
X	101359609	C	T	C101359609T	BTK	NM_000061.3(BTK):c.840-262G>A	noncoding	Benign
X	101359894	C	G	C101359894G	BTK	NM_000061.3(BTK):c.839+194G>C	noncoding	Benign
X	101360035	T	G	T101360035G	BTK	NM_000061.3(BTK):c.839+53A>C	noncoding	Benign
X	101360037	G	T	G101360037T	BTK	NM_000061.3(BTK):c.839+51C>A	noncoding	Benign
X	101360098	C	A	C101360098A	BTK	NM_000061.3(BTK):c.829G>T:p.Glu277Ter	coding	Pathogenic
X	101360490	C	T	C101360490T	BTK	NM_000061.3(BTK):c.776+78G>A	noncoding	Benign
X	101360637	C	T	C101360637T	BTK	NM_000061.3(BTK):c.707G>A:p.Arg236Gln	coding	Benign
X	101360719	C	A	C101360719A	BTK	NM_000061.3(BTK):c.625G>T:p.Ala209Ser	coding	Benign
X	101360749	T	A	T101360749A	BTK	NM_000061.3(BTK):c.595A>T:p.Lys199Ter	coding	Pathogenic
X	101362001	C	T	C101362001T	BTK	NM_000061.3(BTK):c.588+172G>A	noncoding	Benign
X	101362545	C	T	C101362545T	BTK	NM_000061.3(BTK):c.520+16G>A	noncoding	Benign
X	101362548	T	C	T101362548C	BTK	NM_000061.3(BTK):c.520+13A>G	noncoding	Benign
X	101362560	C	T	C101362560T	BTK	NM_000061.3(BTK):c.520+1G>A	noncoding	Pathogenic
X	101369997	C	T	C101369997T	BTK	NM_000061.3(BTK):c.391+1G>A	noncoding	Pathogenic
X	101370040	T	G	T101370040G	BTK	NM_000061.3(BTK):c.349A>C:p.Thr117Pro	coding	Pathogenic
X	101370055	A	G	A101370055G	BTK	NM_000061.3(BTK):c.334T>C:p.Tyr112His	coding	Pathogenic
X	101370203	T	C	T101370203C	BTK	NM_000061.3(BTK):c.310-124A>G	noncoding	Benign
X	101370305	C	T	C101370305T	BTK	NM_000061.3(BTK):c.310-226G>A	noncoding	Benign
X	101371702	C	G	C101371702G	BTK	NM_000061.3(BTK):c.241-1G>C	coding	Pathogenic
X	101371876	C	T	C101371876T	BTK	NM_000061.3(BTK):c.241-175G>A	noncoding	Benign
X	101375159	A	T	A101375159T	BTK	NM_000061.3(BTK):c.126T>A:p.Tyr42Ter	coding	Pathogenic
X	101375223	G	T	G101375223T	BTK	NM_000061.3(BTK):c.62C>A:p.Ser21Ter	coding	Pathogenic
X	101375512	G	A	G101375512A	BTK	NM_000061.3(BTK):c.-30-198C>T	noncoding	Benign
X	101386551	G	A	G101386551A	BTK	NM_001287344.2(BTK):c.72+3927C>T	noncoding	Benign
X	101390523	C	T	C101390523T	BTK	NM_001287344.2(BTK):c.27G>A:p.Met9Ile	coding	Benign
X	101397776	C	T	C101397776T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2319C>T	noncoding	Benign
X	101397864	G	A	G101397864A	GLA	NM_000169.3(GLA):c.1235C>T:p.Thr412Ile	coding	Pathogenic
X	101398038	A	T	A101398038T	GLA	NM_000169.3(GLA):c.1061T>A:p.Ile354Lys	coding	Pathogenic
X	101398053	C	T	C101398053T	GLA	NM_000169.3(GLA):c.1046G>A:p.Trp349Ter	coding	Pathogenic
X	101398100	C	T	C101398100T	GLA	NM_000169.3(GLA):c.1000-1G>A	coding	Pathogenic
X	101398372	G	A	G101398372A	GLA	NM_000169.3(GLA):c.997C>T:p.Gln333Ter	coding	Pathogenic
X	101398413	A	G	A101398413G	GLA	NM_000169.3(GLA):c.956T>C:p.Ile319Thr	coding	Pathogenic/Likely_pathogenic
X	101398433	C	G	C101398433G	GLA	NM_000169.3(GLA):c.936G>C:p.Gln312His	coding	Pathogenic
X	101398472	G	T	G101398472T	GLA	NM_000169.3(GLA):c.897C>A:p.Asp299Glu	coding	Pathogenic
X	101398485	A	C	A101398485C	GLA	NM_000169.3(GLA):c.884T>G:p.Phe295Cys	coding	Pathogenic
X	101398585	A	T	A101398585T	GLA	NM_000169.3(GLA):c.802-18T>A	noncoding	Benign
X	101398798	T	C	T101398798C	GLA	NM_000169.3(GLA):c.788A>G:p.Asn263Ser	coding	Pathogenic
X	101398915	T	C	T101398915C	GLA	NM_000169.3(GLA):c.671A>G:p.Asn224Ser	coding	Pathogenic
X	101398948	T	C	T101398948C	GLA	NM_000169.3(GLA):c.640-2A>G	noncoding	Pathogenic
X	101399079	C	T	C101399079T	GLA	NM_000169.3(GLA):c.640-133G>A	noncoding	Benign
X	101399895	G	A	G101399895A	GLA	NM_000169.3(GLA):c.639+771C>T	noncoding	Benign
X	101400598	T	C	T101400598C	GLA	NM_000169.3(GLA):c.639+68A>G	noncoding	Benign
X	101400648	C	T	C101400648T	GLA	NM_000169.3(GLA):c.639+18G>A	noncoding	Benign
X	101401530	T	C	T101401530C	GLA	NM_000169.3(GLA):c.547+102A>G	noncoding	Benign
X	101401631	C	T	C101401631T	GLA	NM_000169.3(GLA):c.547+1G>A	noncoding	Pathogenic
X	101401664	C	T	C101401664T	GLA	NM_000169.3(GLA):c.515G>A:p.Cys172Tyr	coding	Pathogenic
X	101401693	C	T	C101401693T	GLA	NM_000169.3(GLA):c.486G>A:p.Trp162Ter	coding	Pathogenic
X	101401726	G	C	G101401726C	GLA	NM_000169.3(GLA):c.453C>G:p.Tyr151Ter	coding	Pathogenic
X	101401766	C	T	C101401766T	GLA	NM_000169.3(GLA):c.413G>A:p.Gly138Glu	coding	Pathogenic
X	101401800	T	A	T101401800A	GLA	NM_000169.3(GLA):c.379A>T:p.Lys127Ter	coding	Pathogenic
X	101401810	C	T	C101401810T	GLA	NM_000169.3(GLA):c.370-1G>A	coding	Pathogenic
X	101403825	G	A	G101403825A	GLA	NM_000169.3(GLA):c.355C>T:p.Gln119Ter	coding	Pathogenic
X	101403842	A	G	A101403842G	GLA	NM_000169.3(GLA):c.338T>C:p.Phe113Ser	coding	Pathogenic
X	101403926	C	T	C101403926T	GLA	NM_000169.3(GLA):c.254G>A:p.Gly85Asp	coding	Pathogenic/Likely_pathogenic
X	101403949	G	A	G101403949A	GLA	NM_000169.3(GLA):c.231C>T:p.Val77=	coding	Benign
X	101403978	G	A	G101403978A	GLA	NM_000169.3(GLA):c.202C>T:p.Leu68Phe	coding	Pathogenic/Likely_pathogenic
X	101407737	C	T	C101407737T	GLA	NM_000169.3(GLA):c.167G>A:p.Cys56Tyr	coding	Pathogenic/Likely_pathogenic
X	101407751	C	T	C101407751T	GLA	NM_000169.3(GLA):c.153G>A:p.Met51Ile	coding	Pathogenic/Likely_pathogenic
X	101407768	G	A	G101407768A	GLA	NM_000169.3(GLA):c.136C>T:p.His46Tyr	coding	Pathogenic
X	101407777	C	G	C101407777G	GLA	NM_000169.3(GLA):c.127G>C:p.Gly43Arg	coding	Pathogenic
X	101407785	G	A	G101407785A	GLA	NM_000169.3(GLA):c.119C>T:p.Pro40Leu	coding	Pathogenic/Likely_pathogenic
X	101407851	A	G	A101407851G	GLA	NM_000169.3(GLA):c.53T>C:p.Phe18Ser	coding	Pathogenic
X	101407868	G	T	G101407868T	GLA	NM_000169.3(GLA):c.36C>A:p.Cys12Ter	coding	Pathogenic
X	101407900	G	A	G101407900A	GLA	NM_000169.3(GLA):c.4C>T:p.Gln2Ter	coding	Pathogenic
X	101407903	T	C	T101407903C	GLA	NM_000169.3(GLA):c.1A>G:p.Met1Val	coding	Pathogenic
X	101407903	T	G	T101407903G	GLA	NM_000169.3(GLA):c.1A>C:p.Met1Leu	coding	Pathogenic
X	101408028	A	C	A101408028C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-3908A>C	noncoding	Benign/Likely_benign
X	101408030	G	A	G101408030A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-3906G>A	noncoding	Benign
X	101408032	T	C	T101408032C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-3904T>C	noncoding	Benign
X	101408672	C	G	C101408672G	GLA	NM_019597.5(HNRNPH2):c.-54+353C>G	noncoding	Benign
X	101412328	C	T	C101412328T	HNRNPH2	NM_019597.5(HNRNPH2):c.340C>T:p.Arg114Trp	coding	Pathogenic
X	101413308	C	T	C101413308T	HNRNPH2	NM_019597.5(HNRNPH2):c.1320C>T:p.Asn440=	coding	Benign
X	101832078	G	C	G101832078C	-	Single_allele	noncoding	Benign
X	101832524	A	T	A101832524T	NXF5	Single_allele	noncoding	Benign
X	101832525	T	C	T101832525C	NXF5	Single_allele	noncoding	Benign
X	101838403	C	T	C101838403T	NXF5	NR_028089.1(NXF5):n.1103G>A	coding	Benign
X	101838738	G	T	G101838738T	NXF5	Single_allele	noncoding	Benign
X	101838982	C	T	C101838982T	NXF5	Single_allele	noncoding	Benign
X	101840510	A	G	A101840510G	NXF5	NR_028089.1(NXF5):n.1047T>C	coding	Benign/Likely_benign
X	101840697	T	A	T101840697A	NXF5	Single_allele	noncoding	Benign
X	101840923	G	A	G101840923A	NXF5	Single_allele	noncoding	Benign
X	101841247	G	A	G101841247A	NXF5	Single_allele	noncoding	Benign
X	101841576	G	T	G101841576T	NXF5	NC_000023.10:g.101096548G>T	noncoding	Benign
X	101841958	T	C	T101841958C	NXF5	NR_028089.1(NXF5):n.427A>G	coding	Benign
X	101842918	T	C	T101842918C	NXF5	Single_allele	noncoding	Benign
X	102714234	A	G	A102714234G	GPRASP2	NM_001004051.4(GPRASP2):c.-366A>G	noncoding	Benign
X	102714835	G	A	G102714835A	GPRASP2	NM_001004051.4(GPRASP2):c.-35G>A	noncoding	Benign
X	102715388	A	C	A102715388C	GPRASP2	NM_001004051.4(GPRASP2):c.519A>C:p.Arg173Ser	coding	Benign
X	102717511	A	G	A102717511G	GPRASP2	NM_001004051.4(GPRASP2):c.*125A>G	noncoding	Benign
X	103785598	T	A	T103785598A	PLP1	NM_000533.5(PLP1):c.21T>A:p.Cys7Ter	coding	Pathogenic
X	103785785	C	T	C103785785T	PLP1	NM_000533.5(PLP1):c.191+17C>T	noncoding	Benign
X	103786478	C	T	C103786478T	PLP1	NM_000533.5(PLP1):c.205C>T:p.Gln69Ter	coding	Pathogenic
X	103786715	C	T	C103786715T	PLP1	NM_000533.5(PLP1):c.442C>T:p.His148Tyr	coding	Pathogenic/Likely_pathogenic
X	103787335	G	A	G103787335A	PLP1	NM_000533.5(PLP1):c.454-463G>A	noncoding	Benign
X	103787427	G	A	G103787427A	PLP1	NM_000533.5(PLP1):c.454-371G>A	noncoding	Benign
X	103787788	A	G	A103787788G	PLP1	NM_000533.5(PLP1):c.454-10A>G	noncoding	Pathogenic
X	103787893	C	A	C103787893A	PLP1	NM_000533.5(PLP1):c.549C>A:p.Thr183=	coding	Benign
X	103787923	C	T	C103787923T	PLP1	NM_000533.5(PLP1):c.579C>T:p.Thr193=	coding	Benign
X	103787938	C	A	C103787938A	PLP1	NM_000533.5(PLP1):c.594C>A:p.Gly198=	coding	Benign/Likely_benign
X	103787994	C	G	C103787994G	PLP1	NM_000533.5(PLP1):c.622+28C>G	noncoding	Benign
X	103788201	A	G	A103788201G	PLP1	NM_000533.5(PLP1):c.622+235A>G	noncoding	Benign
X	103788479	C	G	C103788479G	PLP1	NM_000533.5(PLP1):c.665C>G:p.Ser222Cys	coding	Pathogenic
X	103788480	C	T	C103788480T	PLP1	NM_000533.5(PLP1):c.666C>T:p.Ser222=	coding	Benign
X	103788498	C	A	C103788498A	PLP1;RAB9B	NM_000533.5(PLP1):c.684C>A:p.Cys228Ter	coding	Pathogenic
X	103788805	T	G	T103788805G	PLP1	NM_000533.5(PLP1):c.696+295T>G	noncoding	Benign
X	103790507	C	A	C103790507A	PLP1	NM_000533.5(PLP1):c.763-20C>A	noncoding	Benign
X	103790700	C	T	C103790700T	PLP1	NM_000533.5(PLP1):c.*102C>T	noncoding	Benign
X	104040193	C	T	C104040193T	H2BW2	NM_001388464.1(H2BW2):c.199C>T:p.Gln67Ter	coding	Benign
X	105748970	T	C	T105748970C	IL1RAPL2	NM_017416.2(IL1RAPL2):c.1059T>C:p.Tyr353=	coding	Benign
X	106034370	C	A	C106034370A	SERPINA7	NM_000354.5(SERPINA7):c.909G>T:p.Leu303Phe	coding	Benign
X	106802506	C	A	C106802506A	TBC1D8B	Single_allele	noncoding	Benign
X	106818560	A	G	A106818560G	TBC1D8B	NM_017752.3(TBC1D8B):c.131-103A>G	noncoding	Benign
X	106818656	A	G	A106818656G	TBC1D8B	NM_017752.3(TBC1D8B):c.131-7A>G	noncoding	Benign
X	106818694	G	A	G106818694A	TBC1D8B	NM_017752.3(TBC1D8B):c.162G>A:p.Leu54=	coding	Benign
X	106818722	C	T	C106818722T	TBC1D8B	NM_017752.3(TBC1D8B):c.190C>T:p.Arg64Cys	coding	Pathogenic
X	106821115	C	T	C106821115T	TBC1D8B	NM_017752.3(TBC1D8B):c.360+120C>T	noncoding	Benign
X	106823161	A	C	A106823161C	TBC1D8B	NM_017752.3(TBC1D8B):c.587-65A>C	noncoding	Benign
X	106827395	C	T	C106827395T	TBC1D8B	NM_017752.3(TBC1D8B):c.1203+58C>T	noncoding	Benign
X	106840015	A	G	A106840015G	TBC1D8B	NM_017752.3(TBC1D8B):c.1354-33A>G	noncoding	Benign
X	106840074	A	G	A106840074G	TBC1D8B	NM_017752.3(TBC1D8B):c.1380A>G:p.Ser460=	coding	Benign
X	106840077	G	A	G106840077A	TBC1D8B	NM_017752.3(TBC1D8B):c.1383G>A:p.Trp461Ter	coding	Pathogenic
X	106840101	A	G	A106840101G	TBC1D8B	NM_017752.3(TBC1D8B):c.1407A>G:p.Gly469=	coding	Benign
X	106854230	T	C	T106854230C	TBC1D8B	NM_017752.3(TBC1D8B):c.2286T>C:p.His762=	coding	Benign
X	106854282	A	T	A106854282T	TBC1D8B	NM_017752.3(TBC1D8B):c.2338A>T:p.Thr780Ser	coding	Pathogenic
X	106868238	A	G	A106868238G	TBC1D8B	NM_017752.3(TBC1D8B):c.2729-155A>G	noncoding	Benign
X	106868545	T	C	T106868545C	TBC1D8B	NM_017752.3(TBC1D8B):c.2812+69T>C	noncoding	Benign
X	106868635	C	T	C106868635T	TBC1D8B	NM_017752.3(TBC1D8B):c.2812+159C>T	noncoding	Benign
X	106870659	T	A	T106870659A	TBC1D8B	NM_017752.3(TBC1D8B):c.2870-57T>A	noncoding	Benign
X	106870671	A	G	A106870671G	TBC1D8B	NM_017752.3(TBC1D8B):c.2870-45A>G	noncoding	Benign
X	107212690	G	C	G107212690C	DNAAF6	NM_173494.2(DNAAF6):c.-3-183G>C	noncoding	Benign
X	107216580	T	G	T107216580G	DNAAF6	NM_173494.2(DNAAF6):c.154-91T>G	noncoding	Benign
X	107219037	C	T	C107219037T	DNAAF6	NM_173494.2(DNAAF6):c.332+68C>T	noncoding	Benign
X	107219175	C	T	C107219175T	DNAAF6	NM_173494.2(DNAAF6):c.332+206C>T	noncoding	Benign
X	107222958	A	G	A107222958G	DNAAF6	NM_173494.2(DNAAF6):c.429+117A>G	noncoding	Benign
X	107239152	C	T	C107239152T	DNAAF6	NM_173494.2(DNAAF6):c.515+145C>T	noncoding	Benign
X	107639442	A	C	A107639442C	PRPS1	NM_002764.4(PRPS1):c.270A>C:p.Pro90=	coding	Benign
X	107640871	G	C	G107640871C	PRPS1	NM_002764.4(PRPS1):c.307-31G>C	noncoding	Benign
X	107642346	G	C	G107642346C	PRPS1	NM_002764.4(PRPS1):c.406-20G>C	noncoding	Benign
X	107645139	G	T	G107645139T	PRPS1	NM_002764.4(PRPS1):c.531-38G>T	noncoding	Benign
X	107645162	C	T	C107645162T	PRPS1	NM_002764.4(PRPS1):c.531-15C>T	noncoding	Benign
X	107645163	G	A	G107645163A	PRPS1	NM_002764.4(PRPS1):c.531-14G>A	noncoding	Benign
X	107645232	C	T	C107645232T	PRPS1	NM_002764.4(PRPS1):c.586C>T:p.Arg196Trp	coding	Pathogenic
X	107647590	C	T	C107647590T	PRPS1	NM_002764.4(PRPS1):c.705-16C>T	noncoding	Benign
X	107647595	T	C	T107647595C	PRPS1	NM_002764.4(PRPS1):c.705-11T>C	noncoding	Benign/Likely_benign
X	107647759	A	G	A107647759G	PRPS1	NM_002764.4(PRPS1):c.858A>G:p.Lys286=	coding	Benign
X	107647775	A	G	A107647775G	PRPS1	NM_002764.4(PRPS1):c.864+10A>G	noncoding	Benign/Likely_benign
X	107647806	T	A	T107647806A	PRPS1	NM_002764.4(PRPS1):c.864+41T>A	noncoding	Benign
X	107840845	A	C	A107840845C	MID2	NM_012216.4(MID2):c.180A>C:p.Ser60=	coding	Benign
X	108156930	C	T	C108156930T	COL4A6	NM_033641.4(COL4A6):c.*70G>A	noncoding	Benign
X	108157413	G	T	G108157413T	COL4A6	NM_033641.4(COL4A6):c.4813-153C>A	noncoding	Benign
X	108159516	G	A	G108159516A	COL4A6	NM_033641.4(COL4A6):c.4758C>T:p.Ile1586=	coding	Benign
X	108159665	G	A	G108159665A	COL4A6	NM_033641.4(COL4A6):c.4609C>T:p.Arg1537Cys	coding	Benign
X	108160563	C	T	C108160563T	COL4A6	NM_033641.4(COL4A6):c.4425G>A:p.Ser1475=	coding	Benign
X	108160584	C	T	C108160584T	COL4A6	NM_033641.4(COL4A6):c.4404G>A:p.Thr1468=	coding	Benign
X	108160683	T	A	T108160683A	COL4A6	NM_033641.4(COL4A6):c.4334-29A>T	noncoding	Benign
X	108163055	G	A	G108163055A	COL4A6	NM_033641.4(COL4A6):c.4070-17C>T	noncoding	Benign/Likely_benign
X	108164628	G	A	G108164628A	COL4A6	NM_033641.4(COL4A6):c.4041C>T:p.Pro1347=	coding	Benign
X	108164858	G	A	G108164858A	COL4A6	NM_033641.4(COL4A6):c.3970+19C>T	noncoding	Benign
X	108165052	C	T	C108165052T	COL4A6	NM_033641.4(COL4A6):c.3809-14G>A	noncoding	Benign
X	108169647	C	T	C108169647T	COL4A6	NM_033641.4(COL4A6):c.3566-27G>A	noncoding	Benign
X	108169973	C	T	C108169973T	COL4A6	NM_033641.4(COL4A6):c.3537G>A:p.Pro1179=	coding	Benign/Likely_benign
X	108171132	A	G	A108171132G	COL4A6	NM_033641.4(COL4A6):c.3278-215T>C	noncoding	Benign
X	108171134	T	C	T108171134C	COL4A6	NM_033641.4(COL4A6):c.3278-217A>G	noncoding	Benign
X	108172595	T	C	T108172595C	COL4A6	NM_033641.4(COL4A6):c.3139-63A>G	noncoding	Benign
X	108174423	G	A	G108174423A	COL4A6	NM_033641.4(COL4A6):c.3138+17C>T	noncoding	Benign/Likely_benign
X	108175051	C	T	C108175051T	COL4A6	NM_033641.4(COL4A6):c.2956+39G>A	noncoding	Benign
X	108176884	G	T	G108176884T	COL4A6	NM_033641.4(COL4A6):c.2643C>A:p.Gly881=	coding	Benign
X	108177057	T	C	T108177057C	COL4A6	NM_033641.4(COL4A6):c.2516-46A>G	noncoding	Benign
X	108178790	C	T	C108178790T	COL4A6	NM_033641.4(COL4A6):c.2409G>A:p.Gly803=	coding	Benign
X	108178968	C	T	C108178968T	COL4A6	NM_033641.4(COL4A6):c.2354-123G>A	noncoding	Benign
X	108180496	G	A	G108180496A	COL4A6	NM_033641.4(COL4A6):c.2131+19C>T	noncoding	Benign
X	108180607	C	T	C108180607T	COL4A6	NM_033641.4(COL4A6):c.2039G>A:p.Arg680Gln	coding	Benign/Likely_benign
X	108180987	G	A	G108180987A	COL4A6	NM_033641.4(COL4A6):c.1952-19C>T	noncoding	Benign
X	108181232	C	A	C108181232A	COL4A6	NM_033641.4(COL4A6):c.1952-264G>T	noncoding	Benign
X	108187125	G	A	G108187125A	COL4A6	NM_033641.4(COL4A6):c.1922C>T:p.Pro641Leu	coding	Benign
X	108187161	C	T	C108187161T	COL4A6	NM_033641.4(COL4A6):c.1886G>A:p.Arg629His	coding	Benign/Likely_benign
X	108187349	G	A	G108187349A	COL4A6	NM_033641.4(COL4A6):c.1768-70C>T	noncoding	Benign
X	108187557	A	G	A108187557G	COL4A6	NM_033641.4(COL4A6):c.1768-278T>C	noncoding	Benign
X	108187939	C	T	C108187939T	COL4A6	NM_033641.4(COL4A6):c.1676G>A:p.Arg559Gln	coding	Benign/Likely_benign
X	108188081	A	G	A108188081G	COL4A6	NM_033641.4(COL4A6):c.1588-54T>C	noncoding	Benign
X	108188571	T	C	T108188571C	COL4A6	NM_033641.4(COL4A6):c.1533A>G:p.Lys511=	coding	Benign/Likely_benign
X	108190173	A	T	A108190173T	COL4A6	NM_033641.4(COL4A6):c.1426+219T>A	noncoding	Benign
X	108194618	G	C	G108194618C	COL4A6	NM_033641.4(COL4A6):c.949-31C>G	noncoding	Benign
X	108194663	G	A	G108194663A	COL4A6	NM_033641.4(COL4A6):c.949-76C>T	noncoding	Benign
X	108194889	G	T	G108194889T	COL4A6	NM_033641.4(COL4A6):c.948+193C>A	noncoding	Benign
X	108196585	T	C	T108196585C	COL4A6	NM_033641.4(COL4A6):c.835-6A>G	noncoding	Benign
X	108205157	G	T	G108205157T	COL4A6	NM_033641.4(COL4A6):c.687+282C>A	noncoding	Benign
X	108205409	G	T	G108205409T	COL4A6	NM_033641.4(COL4A6):c.687+30C>A	noncoding	Benign
X	108206362	G	A	G108206362A	COL4A6	NM_033641.4(COL4A6):c.609+156C>T	noncoding	Benign
X	108206708	G	C	G108206708C	COL4A6	NM_033641.4(COL4A6):c.547-128C>G	noncoding	Benign
X	108206871	T	G	T108206871G	COL4A6	NM_033641.4(COL4A6):c.547-291A>C	noncoding	Benign
X	108211648	G	A	G108211648A	COL4A6	NM_033641.4(COL4A6):c.510+24C>T	noncoding	Benign
X	108211784	C	T	C108211784T	COL4A6	NM_033641.4(COL4A6):c.442-44G>A	noncoding	Benign
X	108214040	G	A	G108214040A	COL4A6	NM_033641.4(COL4A6):c.441+72C>T	noncoding	Benign
X	108219590	T	C	T108219590C	COL4A6	NM_033641.4(COL4A6):c.324+108A>G	noncoding	Benign
X	108220042	A	T	A108220042T	COL4A6	NM_033641.4(COL4A6):c.280-300T>A	noncoding	Benign
X	108221585	T	C	T108221585C	COL4A6	NM_033641.4(COL4A6):c.145-211A>G	noncoding	Benign
X	108310778	G	A	G108310778A	COL4A6	NM_033641.4(COL4A6):c.114C>T:p.Ser38=	coding	Benign
X	108440334	T	C	T108440334C	COL4A5	NM_033380.3(COL4A5):c.81+128T>C	noncoding	Benign
X	108539534	C	T	C108539534T	COL4A5	NM_033380.3(COL4A5):c.82-212C>T	noncoding	Benign
X	108539754	T	C	T108539754C	COL4A5	NM_033380.3(COL4A5):c.90T>C:p.Tyr30=	coding	Benign
X	108539800	G	T	G108539800T	COL4A5	NM_033380.3(COL4A5):c.136G>T:p.Glu46Ter	coding	Pathogenic
X	108539806	G	A	G108539806A	COL4A5	NM_033380.3(COL4A5):c.141+1G>A	coding	Pathogenic
X	108539807	T	C	T108539807C	COL4A5	NM_033380.3(COL4A5):c.141+2T>C	noncoding	Pathogenic
X	108559155	T	C	T108559155C	COL4A5	NM_033380.3(COL4A5):c.231+2T>C	noncoding	Pathogenic
X	108563865	A	C	A108563865C	COL4A5	NM_033380.3(COL4A5):c.232-17A>C	noncoding	Benign/Likely_benign
X	108563880	A	G	A108563880G	COL4A5	NM_033380.3(COL4A5):c.232-2A>G	noncoding	Pathogenic
X	108563995	T	C	T108563995C	COL4A5	NM_033380.3(COL4A5):c.276+69T>C	noncoding	Benign/Likely_benign
X	108568798	A	G	A108568798G	COL4A5	NM_033380.3(COL4A5):c.361A>G:p.Ile121Val	coding	Benign
X	108568803	C	T	C108568803T	COL4A5	NM_033380.3(COL4A5):c.366C>T:p.Pro122=	coding	Benign
X	108570697	G	A	G108570697A	COL4A5	NM_033380.3(COL4A5):c.385-716G>A	noncoding	Pathogenic
X	108571419	C	T	C108571419T	COL4A5	NM_033380.3(COL4A5):c.391C>T:p.Arg131Cys	coding	Benign
X	108571502	G	T	G108571502T	COL4A5	NM_033380.3(COL4A5):c.438+36G>T	noncoding	Benign
X	108571810	G	A	G108571810A	COL4A5	NM_033380.3(COL4A5):c.439-1G>A	noncoding	Pathogenic
X	108571838	G	A	G108571838A	COL4A5	NM_033380.3(COL4A5):c.465+1G>A	coding	Pathogenic
X	108573573	G	C	G108573573C	COL4A5	NM_033380.3(COL4A5):c.466-1G>C	noncoding	Pathogenic
X	108573602	C	A	C108573602A	COL4A5	NM_033380.3(COL4A5):c.494C>A:p.Ser165Ter	coding	Pathogenic
X	108573656	T	G	T108573656G	COL4A5	NM_033380.3(COL4A5):c.546+2T>G	noncoding	Pathogenic
X	108575937	G	T	G108575937T	COL4A5	NM_033380.3(COL4A5):c.574G>T:p.Gly192Trp	coding	Pathogenic
X	108577647	T	A	T108577647A	COL4A5	NM_033380.3(COL4A5):c.610-305T>A	noncoding	Benign
X	108577723	C	T	C108577723T	COL4A5	NM_033380.3(COL4A5):c.610-229C>T	noncoding	Benign
X	108578280	C	T	C108578280T	COL4A5	NM_033380.3(COL4A5):c.688-11C>T	noncoding	Benign
X	108580531	A	G	A108580531G	COL4A5	NM_033380.3(COL4A5):c.781-2A>G	noncoding	Pathogenic
X	108580575	C	T	C108580575T	COL4A5	NM_033380.3(COL4A5):c.823C>T:p.Arg275Cys	coding	Benign
X	108580673	T	A	T108580673A	COL4A5	NM_033380.3(COL4A5):c.835-9T>A	noncoding	Pathogenic
X	108580708	G	A	G108580708A	COL4A5	NM_033380.3(COL4A5):c.861G>A:p.Glu287=	coding	Benign
X	108580775	A	G	A108580775G	COL4A5	NM_033380.3(COL4A5):c.891+37A>G	noncoding	Benign
X	108580990	C	T	C108580990T	COL4A5	NM_033380.3(COL4A5):c.899C>T:p.Pro300Leu	coding	Benign
X	108581029	T	C	T108581029C	COL4A5	NM_033380.3(COL4A5):c.936+2T>C	noncoding	Pathogenic
X	108584288	C	T	C108584288T	COL4A5	NM_033380.3(COL4A5):c.991-196C>T	noncoding	Benign
X	108584310	C	A	C108584310A	COL4A5	NM_033380.3(COL4A5):c.991-174C>A	noncoding	Benign
X	108584486	C	A	C108584486A	COL4A5	NM_033380.3(COL4A5):c.993C>A:p.Gly331=	coding	Benign
X	108584487	C	T	C108584487T	COL4A5	NM_033380.3(COL4A5):c.994C>T:p.Gln332Ter	coding	Pathogenic
X	108584536	T	A	T108584536A	COL4A5	NM_033380.3(COL4A5):c.1032+11T>A	noncoding	Benign
X	108584550	G	A	G108584550A	COL4A5	NM_033380.3(COL4A5):c.1032+25G>A	noncoding	Benign
X	108586543	C	T	C108586543T	COL4A5	NM_033380.3(COL4A5):c.1033-72C>T	noncoding	Benign
X	108586613	A	G	A108586613G	COL4A5	NM_033380.3(COL4A5):c.1033-2A>G	noncoding	Pathogenic
X	108586617	A	C	A108586617C	COL4A5	NM_033380.3(COL4A5):c.1035A>C:p.Val345=	coding	Benign
X	108586625	G	A	G108586625A	COL4A5	NM_033380.3(COL4A5):c.1043G>A:p.Arg348Lys	coding	Benign/Likely_benign
X	108586668	G	T	G108586668T	COL4A5	NM_033380.3(COL4A5):c.1086G>T:p.Gly362=	coding	Benign
X	108586675	G	A	G108586675A	COL4A5	NM_033380.3(COL4A5):c.1093G>A:p.Gly365Arg	coding	Pathogenic
X	108586720	G	T	G108586720T	COL4A5	NM_033380.3(COL4A5):c.1138G>T:p.Gly380Cys	coding	Pathogenic
X	108586754	G	A	G108586754A	COL4A5	NM_033380.3(COL4A5):c.1165+7G>A	noncoding	Benign
X	108591082	G	T	G108591082T	COL4A5	NM_033380.3(COL4A5):c.1190G>T:p.Gly397Val	coding	Pathogenic
X	108591188	G	C	G108591188C	COL4A5	NM_033380.3(COL4A5):c.1296G>C:p.Gly432=	coding	Benign
X	108591241	A	G	A108591241G	COL4A5	NM_033380.3(COL4A5):c.1339+10A>G	noncoding	Benign
X	108591617	G	T	G108591617T	COL4A5	NM_033380.3(COL4A5):c.1396G>T:p.Gly466Ter	coding	Pathogenic
X	108591632	C	T	C108591632T	COL4A5	NM_033380.3(COL4A5):c.1411C>T:p.Gln471Ter	coding	Pathogenic
X	108595554	C	T	C108595554T	COL4A5	NM_033380.3(COL4A5):c.1469C>T:p.Ser490Leu	coding	Benign
X	108595565	G	T	G108595565T	COL4A5	NM_033380.3(COL4A5):c.1480G>T:p.Gly494Cys	coding	Pathogenic
X	108595582	A	G	A108595582G	COL4A5	NM_033380.3(COL4A5):c.1497A>G:p.Pro499=	coding	Benign
X	108597006	G	T	G108597006T	COL4A5	NM_033380.3(COL4A5):c.1525G>T:p.Gly509Cys	coding	Pathogenic
X	108597024	G	A	G108597024A	COL4A5	NM_033380.3(COL4A5):c.1543G>A:p.Gly515Arg	coding	Pathogenic
X	108597024	G	C	G108597024C	COL4A5	NM_033380.3(COL4A5):c.1543G>C:p.Gly515Arg	coding	Pathogenic
X	108597030	A	T	A108597030T	COL4A5	NM_033380.3(COL4A5):c.1549A>T:p.Lys517Ter	coding	Pathogenic
X	108597065	A	G	A108597065G	COL4A5	NM_033380.3(COL4A5):c.1584A>G:p.Leu528=	coding	Benign
X	108597067	C	A	C108597067A	COL4A5	NM_033380.3(COL4A5):c.1586C>A:p.Pro529Gln	coding	Benign
X	108597204	A	G	A108597204G	COL4A5	NM_033380.3(COL4A5):c.1587+136A>G	noncoding	Benign
X	108597557	A	T	A108597557T	COL4A5	NM_033380.3(COL4A5):c.1768A>T:p.Lys590Ter	coding	Pathogenic
X	108598455	G	A	G108598455A	COL4A5	NM_033380.3(COL4A5):c.1780-247G>A	noncoding	Benign
X	108598732	C	A	C108598732A	COL4A5	NM_033380.3(COL4A5):c.1810C>A:p.Pro604Thr	coding	Benign
X	108598735	C	A	C108598735A	COL4A5	NM_033380.3(COL4A5):c.1813C>A:p.Pro605Thr	coding	Benign
X	108598739	G	A	G108598739A	COL4A5	NM_033380.3(COL4A5):c.1817G>A:p.Gly606Glu	coding	Pathogenic
X	108598831	C	A	C108598831A	COL4A5	NM_033380.3(COL4A5):c.1909C>A:p.Gln637Lys	coding	Benign
X	108598862	G	T	G108598862T	COL4A5	NM_033380.3(COL4A5):c.1940G>T:p.Gly647Val	coding	Pathogenic
X	108601423	C	T	C108601423T	COL4A5	NM_033380.3(COL4A5):c.1979C>T:p.Thr660Ile	coding	Benign
X	108601550	A	G	A108601550G	COL4A5	NM_033380.3(COL4A5):c.2041+65A>G	noncoding	Benign
X	108601884	G	A	G108601884A	COL4A5	NM_033380.3(COL4A5):c.2042-1G>A	noncoding	Pathogenic
X	108601930	G	A	G108601930A	COL4A5	NM_033380.3(COL4A5):c.2087G>A:p.Gly696Asp	coding	Pathogenic
X	108602952	A	G	A108602952G	COL4A5	NM_033380.3(COL4A5):c.2147-12A>G	noncoding	Benign
X	108603070	C	T	C108603070T	COL4A5	NM_033380.3(COL4A5):c.2244+9C>T	noncoding	Benign
X	108606598	C	T	C108606598T	COL4A5	NM_033380.3(COL4A5):c.2245-144C>T	noncoding	Benign
X	108609778	C	T	C108609778T	COL4A5	NM_033380.3(COL4A5):c.2395+2886C>T	noncoding	Benign
X	108609964	A	G	A108609964G	COL4A5	NM_033380.3(COL4A5):c.2395+3072A>G	noncoding	Benign
X	108614915	T	C	T108614915C	COL4A5	NM_033380.3(COL4A5):c.2400T>C:p.Asp800=	coding	Benign
X	108614981	A	G	A108614981G	COL4A5	NM_033380.3(COL4A5):c.2466A>G:p.Gly822=	coding	Benign
X	108615016	G	T	G108615016T	COL4A5	NM_033380.3(COL4A5):c.2501G>T:p.Gly834Val	coding	Pathogenic
X	108615169	T	A	T108615169A	COL4A5	NM_033380.3(COL4A5):c.2509+145T>A	noncoding	Benign
X	108620267	G	T	G108620267T	COL4A5	NM_033380.3(COL4A5):c.2518G>T:p.Gly840Ter	coding	Pathogenic
X	108620269	A	G	A108620269G	COL4A5	NM_033380.3(COL4A5):c.2520A>G:p.Gly840=	coding	Benign
X	108620364	G	A	G108620364A	COL4A5	NM_033380.3(COL4A5):c.2615G>A:p.Gly872Asp	coding	Pathogenic
X	108621811	G	A	G108621811A	COL4A5	NM_033380.3(COL4A5):c.2686G>A:p.Gly896Ser	coding	Pathogenic
X	108622741	G	T	G108622741T	COL4A5	NM_033380.3(COL4A5):c.2833G>T:p.Glu945Ter	coding	Pathogenic
X	108622843	T	C	T108622843C	COL4A5	NM_033380.3(COL4A5):c.2917+18T>C	noncoding	Benign
X	108624068	G	A	G108624068A	COL4A5	NM_033380.3(COL4A5):c.2918-168G>A	noncoding	Benign
X	108624268	C	T	C108624268T	COL4A5	NM_033380.3(COL4A5):c.2950C>T:p.Gln984Ter	coding	Pathogenic
X	108624292	C	T	C108624292T	COL4A5	NM_033380.3(COL4A5):c.2974C>T:p.Gln992Ter	coding	Pathogenic
X	108624510	T	C	T108624510C	COL4A5	NM_033380.3(COL4A5):c.3016+176T>C	noncoding	Benign
X	108625723	G	A	G108625723A	COL4A5	NM_033380.3(COL4A5):c.3035G>A:p.Gly1012Asp	coding	Pathogenic
X	108625794	G	C	G108625794C	COL4A5	NM_033380.3(COL4A5):c.3106G>C:p.Gly1036Arg	coding	Pathogenic
X	108626110	G	A	G108626110A	COL4A5	NM_033380.3(COL4A5):c.3107-100G>A	noncoding	Benign
X	108626199	A	T	A108626199T	COL4A5	NM_033380.3(COL4A5):c.3107-11A>T	noncoding	Benign/Likely_benign
X	108626335	C	T	C108626335T	COL4A5	NM_033380.3(COL4A5):c.3232C>T:p.Leu1078Phe	coding	Benign
X	108655329	A	G	A108655329G	COL4A5	NM_033380.3(COL4A5):c.3247-2A>G	noncoding	Pathogenic
X	108655352	T	C	T108655352C	COL4A5	NM_033380.3(COL4A5):c.3268T>C:p.Tyr1090His	coding	Benign
X	108655394	G	C	G108655394C	COL4A5	NM_033380.3(COL4A5):c.3310G>C:p.Gly1104Arg	coding	Pathogenic
X	108655396	T	C	T108655396C	COL4A5	NM_033380.3(COL4A5):c.3312T>C:p.Gly1104=	coding	Benign
X	108655430	G	A	G108655430A	COL4A5	NM_033380.3(COL4A5):c.3346G>A:p.Gly1116Arg	coding	Pathogenic
X	108655431	G	A	G108655431A	COL4A5	NM_033380.3(COL4A5):c.3347G>A:p.Gly1116Glu	coding	Pathogenic
X	108655457	G	C	G108655457C	COL4A5	NM_033380.3(COL4A5):c.3373G>C:p.Gly1125Arg	coding	Pathogenic
X	108655493	T	C	T108655493C	COL4A5	NM_033380.3(COL4A5):c.3373+36T>C	noncoding	Benign
X	108665233	T	C	T108665233C	COL4A5	NM_033380.3(COL4A5):c.3374-274T>C	noncoding	Benign
X	108665506	G	A	G108665506A	COL4A5	NM_033380.3(COL4A5):c.3374-1G>A	noncoding	Pathogenic
X	108666509	T	C	T108666509C	COL4A5	NM_033380.3(COL4A5):c.3468T>C:p.His1156=	coding	Benign
X	108666531	G	T	G108666531T	COL4A5	NM_033380.3(COL4A5):c.3490G>T:p.Gly1164Cys	coding	Pathogenic/Likely_pathogenic
X	108666532	G	A	G108666532A	COL4A5	NM_033380.3(COL4A5):c.3491G>A:p.Gly1164Asp	coding	Pathogenic
X	108666552	C	T	C108666552T	COL4A5	NM_033380.3(COL4A5):c.3511C>T:p.Gln1171Ter	coding	Pathogenic
X	108666636	T	C	T108666636C	COL4A5	NM_033380.3(COL4A5):c.3553+42T>C	noncoding	Benign
X	108667135	C	T	C108667135T	COL4A5	NM_033380.3(COL4A5):c.3556C>T:p.Gln1186Ter	coding	Pathogenic
X	108667159	C	A	C108667159A	COL4A5	NM_033380.3(COL4A5):c.3580C>A:p.Pro1194Thr	coding	Benign
X	108668310	C	T	C108668310T	COL4A5	NM_033380.3(COL4A5):c.3605-9C>T	noncoding	Benign
X	108668311	T	G	T108668311G	COL4A5	NM_033380.3(COL4A5):c.3605-8T>G	noncoding	Benign
X	108668319	G	A	G108668319A	COL4A5	NM_033380.3(COL4A5):c.3605G>A:p.Gly1202Asp	coding	Pathogenic
X	108668383	C	T	C108668383T	COL4A5	NM_033380.3(COL4A5):c.3669C>T:p.Gly1223=	coding	Benign
X	108668384	G	T	G108668384T	COL4A5	NM_033380.3(COL4A5):c.3670G>T:p.Glu1224Ter	coding	Pathogenic
X	108668450	G	T	G108668450T	COL4A5	NM_033380.3(COL4A5):c.3736G>T:p.Ala1246Ser	coding	Benign
X	108674777	C	T	C108674777T	COL4A5	NM_033380.3(COL4A5):c.3808+24C>T	noncoding	Benign
X	108677494	A	G	A108677494G	COL4A5	NM_033380.3(COL4A5):c.3809-6A>G	noncoding	Benign
X	108677520	C	A	C108677520A	COL4A5	NM_033380.3(COL4A5):c.3829C>A:p.Pro1277Thr	coding	Benign
X	108677520	C	T	C108677520T	COL4A5	NM_033380.3(COL4A5):c.3829C>T:p.Pro1277Ser	coding	Benign
X	108677541	G	T	G108677541T	COL4A5	NM_033380.3(COL4A5):c.3850G>T:p.Gly1284Ter	coding	Pathogenic
X	108677574	C	T	C108677574T	COL4A5	NM_033380.3(COL4A5):c.3883C>T:p.Gln1295Ter	coding	Pathogenic
X	108677613	C	T	C108677613T	COL4A5	NM_033380.3(COL4A5):c.3922C>T:p.Gln1308Ter	coding	Pathogenic
X	108677631	C	T	C108677631T	COL4A5	NM_033380.3(COL4A5):c.3940C>T:p.Gln1314Ter	coding	Pathogenic
X	108677635	T	C	T108677635C	COL4A5	NM_033380.3(COL4A5):c.3942+2T>C	noncoding	Pathogenic
X	108680662	T	G	T108680662G	COL4A5	NM_033380.3(COL4A5):c.3943-17T>G	noncoding	Benign
X	108680693	G	T	G108680693T	COL4A5	NM_033380.3(COL4A5):c.3957G>T:p.Arg1319=	coding	Benign
X	108680739	C	T	C108680739T	COL4A5	NM_033380.3(COL4A5):c.4003C>T:p.Pro1335Ser	coding	Benign
X	108680869	T	G	T108680869G	COL4A5	NM_033380.3(COL4A5):c.4016-16T>G	noncoding	Benign
X	108680897	C	T	C108680897T	COL4A5	NM_033380.3(COL4A5):c.4028C>T:p.Pro1343Leu	coding	Benign
X	108680948	G	A	G108680948A	COL4A5	NM_033380.3(COL4A5):c.4079G>A:p.Gly1360Asp	coding	Pathogenic
X	108680962	A	T	A108680962T	COL4A5	NM_033380.3(COL4A5):c.4087+6A>T	noncoding	Benign
X	108681797	C	T	C108681797T	COL4A5	NM_033380.3(COL4A5):c.4125C>T:p.Ile1375=	coding	Benign
X	108681898	C	T	C108681898T	COL4A5	NM_033380.3(COL4A5):c.4216+10C>T	noncoding	Benign
X	108686025	C	T	C108686025T	COL4A5	NM_033380.3(COL4A5):c.4217-6C>T	noncoding	Benign
X	108686061	G	A	G108686061A	COL4A5	NM_033380.3(COL4A5):c.4247G>A:p.Arg1416His	coding	Benign
X	108686081	G	A	G108686081A	COL4A5	NM_033380.3(COL4A5):c.4267G>A:p.Asp1423Asn	coding	Benign
X	108687472	G	A	G108687472A	COL4A5	NM_033380.3(COL4A5):c.4316-10G>A	noncoding	Benign
X	108687609	A	G	A108687609G	COL4A5	NM_033380.3(COL4A5):c.4443A>G:p.Gln1481=	coding	Benign
X	108687612	C	G	C108687612G	COL4A5	NM_033380.3(COL4A5):c.4446C>G:p.Cys1482Trp	coding	Pathogenic
X	108687628	C	T	C108687628T	COL4A5	NM_033380.3(COL4A5):c.4462C>T:p.Gln1488Ter	coding	Pathogenic
X	108687642	C	T	C108687642T	COL4A5	NM_033380.3(COL4A5):c.4476C>T:p.Gly1492=	coding	Benign
X	108687651	C	A	C108687651A	COL4A5	NM_033380.3(COL4A5):c.4485C>A:p.Leu1495=	coding	Benign
X	108687694	G	C	G108687694C	COL4A5	NM_033380.3(COL4A5):c.4528G>C:p.Gly1510Arg	coding	Pathogenic
X	108687696	T	C	T108687696C	COL4A5	NM_033380.3(COL4A5):c.4528+2T>C	noncoding	Pathogenic
X	108690365	T	C	T108690365C	COL4A5	NM_033380.3(COL4A5):c.4529-2383T>C	noncoding	Benign
X	108692927	T	C	T108692927C	COL4A5	NM_033380.3(COL4A5):c.4706+2T>C	noncoding	Pathogenic
X	108694887	G	A	G108694887A	COL4A5	NM_033380.3(COL4A5):c.4787G>A:p.Trp1596Ter	coding	Pathogenic
X	108694923	T	C	T108694923C	COL4A5	NM_033380.3(COL4A5):c.4821+2T>C	noncoding	Pathogenic
X	108695257	T	C	T108695257C	COL4A5	NM_033380.3(COL4A5):c.4822-10T>C	noncoding	Pathogenic
X	108695307	C	T	C108695307T	COL4A5	NM_033380.3(COL4A5):c.4862C>T:p.Ala1621Val	coding	Benign
X	108695422	T	A	T108695422A	COL4A5	NM_033380.3(COL4A5):c.4977T>A:p.Asp1659Glu	coding	Benign
X	108695451	A	G	A108695451G	COL4A5	NM_033380.3(COL4A5):c.4994+12A>G	noncoding	Benign
X	108696296	G	T	G108696296T	COL4A5	NM_033380.3(COL4A5):c.4995-1G>T	noncoding	Pathogenic/Likely_pathogenic
X	108696306	G	A	G108696306A	COL4A5	NM_033380.3(COL4A5):c.5004G>A:p.Gln1668=	coding	Benign
X	108696308	C	G	C108696308G	COL4A5	NM_033380.3(COL4A5):c.5006C>G:p.Ser1669Ter	coding	Pathogenic
X	108696325	G	T	G108696325T	COL4A5	NM_033380.3(COL4A5):c.5023G>T:p.Gly1675Ter	coding	Pathogenic
X	108696332	T	A	T108696332A	COL4A5	NM_033380.3(COL4A5):c.5030T>A:p.Leu1677Ter	coding	Pathogenic
X	108696353	G	A	G108696353A	COL4A5	NM_033380.3(COL4A5):c.5051G>A:p.Cys1684Tyr	coding	Pathogenic
X	108733710	G	C	G108733710C	IRS4	NM_001379150.1(IRS4):c.2635C>G:p.His879Asp	coding	Benign
X	108735113	C	T	C108735113T	IRS4	NM_001379150.1(IRS4):c.1232G>A:p.Arg411Gln	coding	Benign
X	108736282	C	T	C108736282T	IRS4	NM_001379150.1(IRS4):c.63G>A:p.Ala21=	coding	Benign
X	109624688	G	A	G109624688A	KCNE5	NM_012282.4(KCNE5):c.333C>T:p.Ala111=	coding	Benign/Likely_benign
X	109624811	G	A	G109624811A	KCNE5	NM_012282.4(KCNE5):c.210C>T:p.Tyr70=	coding	Benign/Likely_benign
X	109624924	G	A	G109624924A	KCNE5	NM_012282.4(KCNE5):c.97C>T:p.Pro33Ser	coding	Benign
X	109624979	G	A	G109624979A	KCNE5	NM_012282.4(KCNE5):c.42C>T:p.Ser14=	coding	Benign/Likely_benign
X	109643975	G	A	G109643975A	ACSL4	NM_001318510.2(ACSL4):c.*54C>T	noncoding	Benign
X	109644128	G	T	G109644128T	ACSL4	NM_001318510.2(ACSL4):c.1914C>A:p.Thr638_Pro639=	coding	Benign
X	109661500	C	T	C109661500T	ACSL4	NM_001318510.2(ACSL4):c.1697+31G>A	noncoding	Benign
X	109663441	C	A	C109663441A	ACSL4	NM_001318510.2(ACSL4):c.1391-39G>T	noncoding	Benign
X	109674528	T	C	T109674528C	ACSL4	NM_001318510.2(ACSL4):c.931-55A>G	noncoding	Benign
X	109674544	A	G	A109674544G	ACSL4	NM_001318510.2(ACSL4):c.931-71T>C	noncoding	Benign
X	110200910	C	A	C110200910A	AMMECR1	NM_015365.3(AMMECR1):c.887+44G>T	noncoding	Benign
X	110200911	A	T	A110200911T	AMMECR1	NM_015365.3(AMMECR1):c.887+43T>A	noncoding	Benign
X	110202286	G	A	G110202286A	AMMECR1	NM_015365.3(AMMECR1):c.790+160C>T	noncoding	Benign
X	110681481	C	A	C110681481A	CHRDL1	NM_001143981.2(CHRDL1):c.1156+1G>T	noncoding	Pathogenic
X	110681515	G	A	G110681515A	CHRDL1	NM_001143981.2(CHRDL1):c.1123C>T:p.Gln375Ter	coding	Pathogenic
X	110688606	T	A	T110688606A	CHRDL1	NM_001143981.2(CHRDL1):c.976A>T:p.Lys326Ter	coding	Pathogenic
X	110759733	G	A	G110759733A	CHRDL1	NM_001143981.2(CHRDL1):c.229C>T:p.Arg77Ter	coding	Pathogenic
X	110762694	C	T	C110762694T	CHRDL1	NM_001143981.2(CHRDL1):c.207+1G>A	noncoding	Pathogenic
X	110792087	C	T	C110792087T	CHRDL1	NM_001143981.2(CHRDL1):c.94+1G>A	noncoding	Pathogenic
X	111123532	A	T	A111123532T	PAK3	NM_002578.5(PAK3):c.175+254A>T	noncoding	Benign
X	111147758	C	T	C111147758T	PAK3	NM_002578.5(PAK3):c.298C>T:p.Arg100Ter	coding	Pathogenic/Likely_pathogenic
X	111152126	T	A	T111152126A	PAK3	NM_002578.5(PAK3):c.431-284T>A	noncoding	Benign
X	111152351	G	A	G111152351A	PAK3	NM_002578.5(PAK3):c.431-59G>A	noncoding	Benign
X	111152384	A	G	A111152384G	PAK3	NM_002578.5(PAK3):c.431-26A>G	noncoding	Benign
X	111152589	T	C	T111152589C	PAK3	NM_002578.5(PAK3):c.468+142T>C	noncoding	Benign
X	111152701	A	G	A111152701G	PAK3	NM_002578.5(PAK3):c.468+254A>G	noncoding	Benign
X	111162656	G	A	G111162656A	PAK3	NM_002578.5(PAK3):c.469-259G>A	noncoding	Benign
X	111162757	G	T	G111162757T	PAK3	NM_002578.5(PAK3):c.469-158G>T	noncoding	Benign
X	111162981	G	T	G111162981T	PAK3	NM_002578.5(PAK3):c.535G>T:p.Glu179Ter	coding	Pathogenic
X	111163632	C	A	C111163632A	PAK3	NM_002578.5(PAK3):c.671C>A:p.Ser224Tyr	coding	Benign
X	111173320	T	G	T111173320G	PAK3	NM_002578.5(PAK3):c.830+239T>G	noncoding	Benign
X	111173329	T	C	T111173329C	PAK3	NM_002578.5(PAK3):c.830+248T>C	noncoding	Benign
X	111192145	T	C	T111192145C	PAK3	NM_002578.5(PAK3):c.849T>C:p.Tyr283=	coding	Benign
X	111192187	C	T	C111192187T	PAK3	NM_002578.5(PAK3):c.879+12C>T	noncoding	Benign
X	111194281	C	A	C111194281A	PAK3	NM_002578.5(PAK3):c.993-20C>A	noncoding	Benign
X	111194374	G	T	G111194374T	PAK3	NM_002578.5(PAK3):c.1066G>T:p.Glu356Ter	coding	Pathogenic/Likely_pathogenic
X	111216599	C	G	C111216599G	PAK3	NM_002578.5(PAK3):c.1545+41C>G	noncoding	Benign
X	111216653	G	A	G111216653A	PAK3	NM_002578.5(PAK3):c.1545+95G>A	noncoding	Benign
X	111216727	C	T	C111216727T	PAK3	NM_002578.5(PAK3):c.1545+169C>T	noncoding	Benign
X	111220274	C	A	C111220274A	PAK3	NM_002578.5(PAK3):c.1546-84C>A	noncoding	Benign
X	111247114	G	A	G111247114A	CAPN6	NM_014289.4(CAPN6):c.1743+254C>T	noncoding	Benign
X	111247263	C	T	C111247263T	CAPN6	NM_014289.4(CAPN6):c.1743+105G>A	noncoding	Benign
X	111250789	T	A	T111250789A	CAPN6	NM_014289.4(CAPN6):c.1158+128A>T	noncoding	Benign
X	111251613	C	G	C111251613G	CAPN6	NM_014289.4(CAPN6):c.829G>C:p.Val277Leu	coding	Benign
X	111251901	A	G	A111251901G	CAPN6	NM_014289.4(CAPN6):c.700-159T>C	noncoding	Benign
X	111252282	G	A	G111252282A	CAPN6	NM_014289.4(CAPN6):c.699+25C>T	noncoding	Benign
X	111253163	G	A	G111253163A	CAPN6	NM_014289.4(CAPN6):c.351C>T:p.Tyr117=	coding	Benign
X	111254186	G	A	G111254186A	CAPN6	NM_014289.4(CAPN6):c.297+86C>T	noncoding	Benign
X	111254640	C	G	C111254640G	CAPN6	NM_014289.4(CAPN6):c.166-237G>C	noncoding	Benign
X	111312507	C	G	C111312507G	DCX	NM_001195553.2(DCX):c.1044+132G>C	noncoding	Benign
X	111330979	G	A	G111330979A	DCX	NM_001195553.2(DCX):c.871C>T:p.Gln291Ter	coding	Pathogenic
X	111332767	G	C	G111332767C	DCX	NM_001195553.2(DCX):c.808+284C>G	noncoding	Benign
X	111333082	A	T	A111333082T	DCX	NM_001195553.2(DCX):c.777T>A:p.Tyr259Ter	coding	Pathogenic
X	111400989	C	T	C111400989T	DCX	NM_001195553.2(DCX):c.705+1G>A	noncoding	Pathogenic
X	111400992	G	A	G111400992A	DCX	NM_001195553.2(DCX):c.703C>T:p.Gln235Ter	coding	Pathogenic
X	111401155	C	A	C111401155A	DCX	NM_001195553.2(DCX):c.540G>T:p.Lys180Asn	coding	Pathogenic/Likely_pathogenic
X	111401331	C	A	C111401331A	DCX	NM_001195553.2(DCX):c.365-1G>T	coding	Pathogenic
X	111410215	C	T	C111410215T	DCX	NM_001195553.2(DCX):c.184G>A:p.Asp62Asn	coding	Pathogenic/Likely_pathogenic
X	111681260	C	A	C111681260A	ALG13	NM_001099922.3(ALG13):c.42C>A:p.Asp14Glu	coding	Benign/Likely_benign
X	111682170	A	C	A111682170C	ALG13	NM_001099922.3(ALG13):c.120A>C:p.Gln40His	coding	Pathogenic
X	111682200	C	T	C111682200T	ALG13	NM_001099922.3(ALG13):c.150C>T:p.Pro50=	coding	Benign/Likely_benign
X	111685008	C	T	C111685008T	ALG13	NM_001099922.3(ALG13):c.288C>T:p.Leu96=	coding	Benign/Likely_benign
X	111685098	C	T	C111685098T	ALG13	NM_001099922.3(ALG13):c.378C>T:p.Thr126=	coding	Benign
X	111685934	G	A	G111685934A	ALG13	NM_001099922.3(ALG13):c.383+831G>A	noncoding	Benign
X	111686232	G	A	G111686232A	ALG13	NM_001099922.3(ALG13):c.383+1129G>A	noncoding	Benign
X	111707814	C	T	C111707814T	ALG13	NM_001099922.3(ALG13):c.384-213C>T	noncoding	Benign
X	111709242	A	G	A111709242G	ALG13	NM_001099922.3(ALG13):c.834+194A>G	noncoding	Benign
X	111711653	T	C	T111711653C	ALG13	NM_001099922.3(ALG13):c.835-22T>C	noncoding	Benign
X	111712468	C	A	C111712468A	ALG13	NM_001099922.3(ALG13):c.886-16C>A	noncoding	Benign/Likely_benign
X	111713270	T	C	T111713270C	ALG13	NM_001099922.3(ALG13):c.978T>C:p.Tyr326=	coding	Benign
X	111717749	A	G	A111717749G	ALG13	NM_001099922.3(ALG13):c.1006-97A>G	noncoding	Benign
X	111717832	G	A	G111717832A	ALG13	NM_001099922.3(ALG13):c.1006-14G>A	noncoding	Benign/Likely_benign
X	111718113	T	C	T111718113C	ALG13	NM_001099922.3(ALG13):c.1089T>C:p.Ala363=	coding	Benign
X	111718385	C	T	C111718385T	ALG13	NM_001099922.3(ALG13):c.1250+111C>T	noncoding	Benign
X	111721584	A	G	A111721584G	ALG13	NM_001099922.3(ALG13):c.1327-19A>G	noncoding	Benign/Likely_benign
X	111721731	A	G	A111721731G	ALG13	NM_001099922.3(ALG13):c.1435+20A>G	noncoding	Benign
X	111723909	G	A	G111723909A	ALG13	NM_001099922.3(ALG13):c.1601+11G>A	noncoding	Benign/Likely_benign
X	111725075	A	G	A111725075G	ALG13	NM_001099922.3(ALG13):c.1729+14A>G	noncoding	Benign/Likely_benign
X	111725122	G	A	G111725122A	ALG13	NM_001099922.3(ALG13):c.1729+61G>A	noncoding	Benign
X	111727050	G	A	G111727050A	ALG13	NM_001099922.3(ALG13):c.1971G>A:p.Met657Ile	coding	Benign
X	111727392	A	G	A111727392G	ALG13	NM_001099922.3(ALG13):c.2037A>G:p.Pro679=	coding	Benign
X	111728170	G	C	G111728170C	ALG13	NM_001099922.3(ALG13):c.2248-15G>C	noncoding	Benign/Likely_benign
X	111728203	A	G	A111728203G	ALG13	NM_001099922.3(ALG13):c.2266A>G:p.Thr756Ala	coding	Benign/Likely_benign
X	111730376	T	C	T111730376C	ALG13	NM_001099922.3(ALG13):c.2369-19T>C	noncoding	Benign
X	111736869	C	T	C111736869T	ALG13	NM_001099922.3(ALG13):c.2685C>T:p.His895=	coding	Benign
X	111744771	T	A	T111744771A	ALG13	NM_001099922.3(ALG13):c.2799T>A:p.Pro933=	coding	Benign/Likely_benign
X	111744921	A	G	A111744921G	ALG13	NM_001099922.3(ALG13):c.2932+17A>G	noncoding	Benign
X	111752775	G	T	G111752775T	ALG13	NM_001099922.3(ALG13):c.2933-15G>T	noncoding	Benign/Likely_benign
X	111752776	A	G	A111752776G	ALG13	NM_001099922.3(ALG13):c.2933-14A>G	noncoding	Benign
X	111757627	C	T	C111757627T	ALG13	NM_001099922.3(ALG13):c.3013C>T:p.Pro1005Ser	coding	Pathogenic/Likely_pathogenic
X	111759806	A	G	A111759806G	ALG13	NM_001099922.3(ALG13):c.3221A>G:p.Tyr1074Cys	coding	Benign/Likely_benign
X	114903581	C	G	C114903581G	HTR2C	NM_000868.4(HTR2C):c.551-3008C>G	noncoding	Benign
X	115179519	T	C	T115179519C	LRCH2	NM_020871.4(LRCH2):c.772A>G:p.Lys258Glu	coding	Pathogenic
X	115610165	C	T	C115610165T	PLS3	NM_005032.7(PLS3):c.-8-78C>T	noncoding	Benign
X	115610600	G	T	G115610600T	PLS3	NM_005032.7(PLS3):c.73+277G>T	noncoding	Benign
X	115622010	A	G	A115622010G	PLS3	NM_005032.7(PLS3):c.74-236A>G	noncoding	Benign
X	115622116	T	A	T115622116A	PLS3	NM_005032.7(PLS3):c.74-130T>A	noncoding	Benign
X	115622167	A	G	A115622167G	PLS3	NM_005032.7(PLS3):c.74-79A>G	noncoding	Benign
X	115622196	C	A	C115622196A	PLS3	NM_005032.7(PLS3):c.74-50C>A	noncoding	Benign
X	115622259	C	T	C115622259T	PLS3	NM_005032.7(PLS3):c.87C>T:p.Asn29=	coding	Benign
X	115622397	C	T	C115622397T	PLS3	NM_005032.7(PLS3):c.225C>T:p.Asp75=	coding	Benign
X	115622427	C	A	C115622427A	PLS3	NM_005032.7(PLS3):c.237+18C>A	noncoding	Benign
X	115629779	A	C	A115629779C	PLS3	NM_005032.7(PLS3):c.368-56A>C	noncoding	Benign
X	115630052	G	A	G115630052A	PLS3	NM_005032.7(PLS3):c.500+85G>A	noncoding	Benign
X	115634089	T	G	T115634089G	PLS3	NM_005032.7(PLS3):c.582+8T>G	noncoding	Benign
X	115634369	A	G	A115634369G	PLS3	NM_005032.7(PLS3):c.582+288A>G	noncoding	Benign
X	115634666	A	G	A115634666G	PLS3	NM_005032.7(PLS3):c.583-215A>G	noncoding	Benign
X	115634915	C	T	C115634915T	PLS3	NM_005032.7(PLS3):c.617C>T:p.Ala206Val	coding	Pathogenic
X	115635018	C	T	C115635018T	PLS3	NM_005032.7(PLS3):c.720C>T:p.Phe240=	coding	Benign
X	115636853	C	T	C115636853T	PLS3	NM_005032.7(PLS3):c.766C>T:p.Arg256Ter	coding	Pathogenic
X	115639908	G	A	G115639908A	PLS3	NM_005032.7(PLS3):c.892-500G>A	noncoding	Benign
X	115640390	A	C	A115640390C	PLS3	NM_005032.7(PLS3):c.892-18A>C	noncoding	Benign
X	115640441	A	G	A115640441G	PLS3	NM_005032.7(PLS3):c.925A>G:p.Ile309Val	coding	Benign/Likely_benign
X	115640474	C	T	C115640474T	PLS3	NM_005032.7(PLS3):c.958C>T:p.Arg320Trp	coding	Benign
X	115643375	A	G	A115643375G	PLS3	NM_005032.7(PLS3):c.1050A>G:p.Arg350=	coding	Benign
X	115643379	T	C	T115643379C	PLS3	NM_005032.7(PLS3):c.1054T>C:p.Phe352Leu	coding	Pathogenic
X	115643426	A	G	A115643426G	PLS3	NM_005032.7(PLS3):c.1101A>G:p.Leu367=	coding	Benign
X	115643479	A	G	A115643479G	PLS3	NM_005032.7(PLS3):c.1154A>G:p.Asn385Ser	coding	Benign
X	115645100	G	A	G115645100A	PLS3	NM_005032.7(PLS3):c.1262+1G>A	coding	Pathogenic/Likely_pathogenic
X	115645801	T	C	T115645801C	PLS3	NM_005032.7(PLS3):c.1263-271T>C	noncoding	Benign
X	115646084	T	C	T115646084C	PLS3	NM_005032.7(PLS3):c.1275T>C:p.Asp425=	coding	Benign/Likely_benign
X	115646135	G	A	G115646135A	PLS3	NM_005032.7(PLS3):c.1326G>A:p.Trp442Ter	coding	Pathogenic
X	115646500	C	G	C115646500G	PLS3	NM_005032.7(PLS3):c.1476C>G:p.Thr492=	coding	Benign/Likely_benign
X	115646536	G	A	G115646536A	PLS3	NM_005032.7(PLS3):c.1511+1G>A	coding	Pathogenic
X	115647549	G	T	G115647549T	PLS3	NM_005032.7(PLS3):c.1512-1G>T	noncoding	Pathogenic
X	115647556	C	A	C115647556A	PLS3	NM_005032.7(PLS3):c.1518C>A:p.Thr506=	coding	Benign
X	115647914	T	C	T115647914C	PLS3	NM_005032.7(PLS3):c.1657T>C:p.Leu553=	coding	Benign
X	115647989	A	G	A115647989G	PLS3	NM_005032.7(PLS3):c.1732A>G:p.Thr578Ala	coding	Benign
X	115648035	T	C	T115648035C	PLS3	NM_005032.7(PLS3):c.1760+18T>C	noncoding	Benign
X	115649131	C	T	C115649131T	PLS3	NM_005032.7(PLS3):c.1761-298C>T	noncoding	Benign
X	119087355	A	G	A119087355G	KIAA1210	NM_001394962.1(KIAA1210):c.3347T>C:p.Leu1116Pro	coding	Benign/Likely_benign
X	119088397	T	A	T119088397A	KIAA1210	NM_001394962.1(KIAA1210):c.2305A>T:p.Ile769Phe	coding	Benign
X	119469881	T	G	T119469881G	SLC25A5	NM_001152.5(SLC25A5):c.332T>G:p.Leu111Arg	coding	Benign
X	119541336	G	A	G119541336A	STEEP1	NM_022101.4(STEEP1):c.598C>T:p.Gln200Ter	coding	Pathogenic
X	119544401	G	A	G119544401A	STEEP1	NM_022101.4(STEEP1):c.375C>T:p.Gly125=	coding	Benign
X	119565357	A	G	A119565357G	STEEP1	NM_022101.4(STEEP1):c.-2T>C	noncoding	Benign
X	119574995	C	T	C119574995T	UBE2A	NM_003336.4(UBE2A):c.125+14C>T	noncoding	Benign
X	119837749	A	G	A119837749G	UPF3B	NM_080632.3(UPF3B):c.1302+8T>C	noncoding	Benign
X	119837858	G	A	G119837858A	UPF3B	NM_080632.3(UPF3B):c.1201C>T:p.Arg401Trp	coding	Benign
X	119837942	G	A	G119837942A	UPF3B	NM_080632.3(UPF3B):c.1117C>T:p.Arg373Cys	coding	Benign/Likely_benign
X	119837958	C	G	C119837958G	UPF3B	NM_080632.3(UPF3B):c.1101G>C:p.Lys367Asn	coding	Benign/Likely_benign
X	119840956	C	G	C119840956G	UPF3B	NM_080632.3(UPF3B):c.807+120G>C	noncoding	Benign
X	119841057	A	G	A119841057G	UPF3B	NM_080632.3(UPF3B):c.807+19T>C	noncoding	Benign
X	119841213	C	A	C119841213A	UPF3B	NM_080632.3(UPF3B):c.670G>T:p.Glu224Ter	coding	Pathogenic
X	119843014	C	T	C119843014T	UPF3B	NM_080632.3(UPF3B):c.580+177G>A	noncoding	Benign
X	119843064	A	T	A119843064T	UPF3B	NM_080632.3(UPF3B):c.580+127T>A	noncoding	Benign
X	119843320	A	G	A119843320G	UPF3B	NM_080632.3(UPF3B):c.470-19T>C	noncoding	Benign
X	119843368	C	T	C119843368T	UPF3B	NM_080632.3(UPF3B):c.470-67G>A	noncoding	Benign
X	119845354	T	C	T119845354C	UPF3B	NM_080632.3(UPF3B):c.371-58A>G	noncoding	Benign
X	119845572	C	T	C119845572T	UPF3B	NM_080632.3(UPF3B):c.371-276G>A	noncoding	Benign
X	119851459	A	T	A119851459T	UPF3B	NM_080632.3(UPF3B):c.370+36T>A	noncoding	Benign
X	119851600	A	G	A119851600G	UPF3B	NM_080632.3(UPF3B):c.265T>C:p.Leu89=	coding	Benign
X	119851666	T	C	T119851666C	UPF3B	NM_080632.3(UPF3B):c.264-65A>G	noncoding	Benign
X	119851889	A	C	A119851889C	UPF3B	NM_080632.3(UPF3B):c.157-16T>G	noncoding	Benign
X	119852824	C	T	C119852824T	UPF3B	NM_080632.3(UPF3B):c.105G>A:p.Lys35=	coding	Benign
X	119870442	T	A	T119870442A	RNF113A	Single_allele	noncoding	Benign
X	119871624	T	C	T119871624C	NDUFA1;RNF113A	NM_006978.3(RNF113A):c.-11A>G	noncoding	Benign
X	119871742	C	G	C119871742G	NDUFA1	Single_allele	noncoding	Benign
X	119873028	A	G	A119873028G	NDUFA1	NM_004541.4(NDUFA1):c.103-276A>G	noncoding	Benign
X	119873060	T	A	T119873060A	NDUFA1	NM_004541.4(NDUFA1):c.103-244T>A	noncoding	Benign
X	119873061	A	T	A119873061T	NDUFA1	NM_004541.4(NDUFA1):c.103-243A>T	noncoding	Benign
X	119873297	T	C	T119873297C	NDUFA1	NM_004541.4(NDUFA1):c.103-7T>C	noncoding	Benign
X	119876464	C	A	C119876464A	NDUFA1	NM_004541.4(NDUFA1):c.193-50C>A	noncoding	Benign
X	119930128	T	C	T119930128C	NKAP	NM_024528.4(NKAP):c.961A>G:p.Met321Val	coding	Pathogenic
X	119931930	G	A	G119931930A	NKAP	NM_024528.4(NKAP):c.923+6C>T	noncoding	Benign
X	119936448	T	A	T119936448A	NKAP	NM_024528.4(NKAP):c.539-17A>T	noncoding	Benign
X	119936604	A	T	A119936604T	NKAP	NM_024528.4(NKAP):c.538+8T>A	noncoding	Benign
X	120431394	C	A	C120431394A	LAMP2	NM_002294.3(LAMP2):c.1162G>T:p.Val388Leu	coding	Benign
X	120431431	G	A	G120431431A	LAMP2	NM_002294.3(LAMP2):c.1125C>T:p.Phe375=	coding	Benign
X	120431466	G	A	G120431466A	LAMP2	NM_002294.3(LAMP2):c.1094-4C>T	noncoding	Benign/Likely_benign
X	120431478	G	A	G120431478A	LAMP2	NM_002294.3(LAMP2):c.1094-16C>T	noncoding	Benign
X	120439140	C	T	C120439140T	LAMP2	NM_002294.3(LAMP2):c.1093+2590G>A	coding	Benign
X	120439203	G	A	G120439203A	LAMP2	NM_002294.3(LAMP2):c.1093+2527C>T	coding	Benign
X	120439252	T	C	T120439252C	LAMP2	NM_002294.3(LAMP2):c.1093+2478A>G	coding	Benign/Likely_benign
X	120441728	A	T	A120441728T	LAMP2	NM_002294.3(LAMP2):c.1093+2T>A	noncoding	Pathogenic
X	120441748	G	A	G120441748A	LAMP2	NM_002294.3(LAMP2):c.1075C>T:p.Gln359Ter	coding	Pathogenic/Likely_pathogenic
X	120441766	G	A	G120441766A	LAMP2	NM_002294.3(LAMP2):c.1057C>T:p.Gln353Ter	coding	Pathogenic
X	120441836	A	C	A120441836C	LAMP2	NM_002294.3(LAMP2):c.987T>G:p.Tyr329Ter	coding	Pathogenic
X	120441929	T	A	T120441929A	LAMP2	NM_002294.3(LAMP2):c.929-35A>T	noncoding	Benign
X	120442596	T	A	T120442596A	LAMP2	NM_002294.3(LAMP2):c.928+3A>T	noncoding	Pathogenic
X	120446301	T	C	T120446301C	LAMP2	NM_002294.3(LAMP2):c.864+4A>G	noncoding	Pathogenic
X	120446420	G	C	G120446420C	LAMP2	NM_002294.3(LAMP2):c.749C>G:p.Ser250Ter	coding	Pathogenic
X	120446420	G	T	G120446420T	LAMP2	NM_002294.3(LAMP2):c.749C>A:p.Ser250Ter	coding	Pathogenic
X	120447936	C	A	C120447936A	LAMP2	NM_002294.3(LAMP2):c.646G>T:p.Glu216Ter	coding	Pathogenic
X	120448037	G	A	G120448037A	LAMP2	NM_002294.3(LAMP2):c.557-12C>T	noncoding	Benign
X	120449019	C	T	C120449019T	LAMP2	NM_002294.3(LAMP2):c.507G>A:p.Trp169Ter	coding	Pathogenic
X	120449056	G	C	G120449056C	LAMP2	NM_002294.3(LAMP2):c.470C>G:p.Ser157Ter	coding	Pathogenic
X	120449059	A	C	A120449059C	LAMP2	NM_002294.3(LAMP2):c.467T>G:p.Leu156Ter	coding	Pathogenic
X	120455427	A	T	A120455427T	LAMP2	NM_002294.3(LAMP2):c.327T>A:p.Tyr109Ter	coding	Pathogenic
X	120455455	G	A	G120455455A	LAMP2	NM_002294.3(LAMP2):c.299C>T:p.Ala100Val	coding	Benign/Likely_benign
X	120455478	G	A	G120455478A	LAMP2	NM_002294.3(LAMP2):c.276C>T:p.Phe92=	coding	Benign/Likely_benign
X	120455507	G	A	G120455507A	LAMP2	NM_002294.3(LAMP2):c.247C>T:p.Gln83Ter	coding	Pathogenic
X	120456649	A	G	A120456649G	LAMP2	NM_002294.3(LAMP2):c.183+2T>C	noncoding	Pathogenic
X	120456651	A	T	A120456651T	LAMP2	NM_002294.3(LAMP2):c.183T>A:p.Tyr61Ter	coding	Pathogenic
X	120456695	G	A	G120456695A	LAMP2	NM_002294.3(LAMP2):c.139C>T:p.Gln47Ter	coding	Pathogenic
X	120456725	C	A	C120456725A	LAMP2	NM_002294.3(LAMP2):c.109G>T:p.Glu37Ter	coding	Pathogenic
X	120456727	G	C	G120456727C	LAMP2	NM_002294.3(LAMP2):c.107C>G:p.Ser36Ter	coding	Pathogenic
X	120456736	A	T	A120456736T	LAMP2	NM_002294.3(LAMP2):c.98T>A:p.Leu33Ter	coding	Benign
X	120469106	C	A	C120469106A	LAMP2	NM_002294.3(LAMP2):c.64G>T:p.Gly22Ter	coding	Pathogenic
X	120469116	G	T	G120469116T	LAMP2	NM_002294.3(LAMP2):c.54C>A:p.Cys18Ter	coding	Pathogenic
X	120469208	G	A	G120469208A	LAMP2	NM_002294.3(LAMP2):c.-39C>T	noncoding	Benign
X	120469211	A	G	A120469211G	LAMP2	NM_002294.3(LAMP2):c.-42T>C	noncoding	Benign
X	120469212	C	A	C120469212A	LAMP2	NM_002294.3(LAMP2):c.-43G>T	noncoding	Benign
X	120469304	C	G	C120469304G	LAMP2	NM_013995.2(LAMP2):c.-135G>C	noncoding	Benign
X	120469307	C	A	C120469307A	LAMP2	NM_013995.2(LAMP2):c.-138G>T	noncoding	Benign
X	120469369	G	A	G120469369A	LAMP2	Single_allele	noncoding	Benign
X	120526946	C	T	C120526946T	CUL4B	NM_001079872.2(CUL4B):c.2593-90G>A	noncoding	Benign
X	120532420	A	G	A120532420G	CUL4B	NM_001079872.2(CUL4B):c.2439+2T>C	noncoding	Pathogenic
X	120535832	C	A	C120535832A	CUL4B	NM_001079872.2(CUL4B):c.2158G>T:p.Glu720Ter	coding	Pathogenic
X	120538715	G	A	G120538715A	CUL4B	NM_001079872.2(CUL4B):c.1797C>T:p.Val599=	coding	Benign/Likely_benign
X	120543052	A	G	A120543052G	CUL4B	NM_001079872.2(CUL4B):c.1257-19T>C	noncoding	Benign
X	120543829	C	T	C120543829T	CUL4B	NM_001079872.2(CUL4B):c.1174-20G>A	noncoding	Benign
X	120544733	A	C	A120544733C	CUL4B	NM_001079872.2(CUL4B):c.921-90T>G	noncoding	Benign
X	120546609	A	T	A120546609T	CUL4B	NM_001079872.2(CUL4B):c.784T>A:p.Leu262Met	coding	Pathogenic
X	120574592	C	T	C120574592T	CUL4B	NM_003588.4(CUL4B):c.26G>A:p.Gly9Glu	coding	Benign/Likely_benign
X	120626774	A	T	A120626774T	C1GALT1C1	NM_001011551.3(C1GALT1C1):c.393T>A:p.Asp131Glu	coding	Benign
X	123184519	T	C	T123184519C	GRIA3	NM_007325.5(GRIA3):c.-17T>C	noncoding	Benign
X	123184622	A	T	A123184622T	GRIA3	NM_007325.5(GRIA3):c.87A>T:p.Gly29=	coding	Benign
X	123184918	C	T	C123184918T	GRIA3	NM_007325.5(GRIA3):c.109+274C>T	noncoding	Benign
X	123186065	T	C	T123186065C	GRIA3	NM_007325.5(GRIA3):c.268+75T>C	noncoding	Benign
X	123186161	T	A	T123186161A	GRIA3	NM_007325.5(GRIA3):c.268+171T>A	noncoding	Benign
X	123253085	A	G	A123253085G	GRIA3	NM_007325.5(GRIA3):c.269-218A>G	noncoding	Benign
X	123253376	C	T	C123253376T	GRIA3	NM_007325.5(GRIA3):c.342C>T:p.Thr114=	coding	Benign
X	123253791	A	T	A123253791T	GRIA3	NM_007325.5(GRIA3):c.508+249A>T	noncoding	Benign
X	123325782	A	C	A123325782C	GRIA3	NM_007325.5(GRIA3):c.509-244A>C	noncoding	Benign
X	123326248	T	C	T123326248C	GRIA3	NM_007325.5(GRIA3):c.696+35T>C	noncoding	Benign
X	123326383	A	G	A123326383G	GRIA3	NM_007325.5(GRIA3):c.696+170A>G	noncoding	Benign
X	123354881	G	A	G123354881A	GRIA3	NM_007325.5(GRIA3):c.697-29G>A	noncoding	Benign
X	123394926	A	G	A123394926G	GRIA3	NM_007325.5(GRIA3):c.751-42A>G	noncoding	Benign
X	123394952	T	C	T123394952C	GRIA3	NM_007325.5(GRIA3):c.751-16T>C	noncoding	Benign
X	123398621	A	G	A123398621G	GRIA3	NM_007325.5(GRIA3):c.913-15A>G	noncoding	Benign
X	123398823	A	C	A123398823C	GRIA3	NM_007325.5(GRIA3):c.1080+20A>C	noncoding	Benign
X	123398824	T	C	T123398824C	GRIA3	NM_007325.5(GRIA3):c.1080+21T>C	noncoding	Benign
X	123403093	C	T	C123403093T	GRIA3	NM_007325.5(GRIA3):c.1180C>T:p.Arg394Ter	coding	Pathogenic/Likely_pathogenic
X	123403107	C	A	C123403107A	GRIA3	NM_007325.5(GRIA3):c.1185+9C>A	noncoding	Benign
X	123403567	C	T	C123403567T	GRIA3	NM_007325.5(GRIA3):c.1293+48C>T	noncoding	Benign
X	123404740	T	C	T123404740C	GRIA3	NM_007325.5(GRIA3):c.1326T>C:p.His442=	coding	Benign/Likely_benign
X	123417198	C	G	C123417198G	GRIA3	NM_007325.5(GRIA3):c.1501-204C>G	noncoding	Benign
X	123417745	C	T	C123417745T	GRIA3	NM_007325.5(GRIA3):c.1844C>T:p.Ala615Val	coding	Pathogenic
X	123428042	G	C	G123428042C	GRIA3	NM_007325.5(GRIA3):c.1979G>C:p.Arg660Thr	coding	Pathogenic
X	123428057	T	C	T123428057C	GRIA3	NM_007325.5(GRIA3):c.1994T>C:p.Ile665Thr	coding	Pathogenic
X	123428297	C	T	C123428297T	GRIA3	NM_007325.5(GRIA3):c.2076+158C>T	noncoding	Benign
X	123464885	C	T	C123464885T	GRIA3	NM_007325.5(GRIA3):c.2097C>T:p.Tyr699=	coding	Benign
X	123483072	T	G	T123483072G	GRIA3	NM_007325.5(GRIA3):c.*2+26T>G	noncoding	Benign
X	123483357	C	T	C123483357T	GRIA3	NM_007325.5(GRIA3):c.*2+311C>T	noncoding	Benign
X	123624678	G	A	G123624678A	THOC2	NM_001081550.2(THOC2):c.3058-9C>T	noncoding	Benign
X	123631646	T	C	T123631646C	THOC2	NM_001081550.2(THOC2):c.2481+42A>G	noncoding	Benign
X	123631899	T	C	T123631899C	THOC2	NM_001081550.2(THOC2):c.2317-47A>G	noncoding	Benign
X	123634002	G	A	G123634002A	THOC2	NM_001081550.2(THOC2):c.2087C>T:p.Thr696Ile	coding	Pathogenic/Likely_pathogenic
X	123859895	C	T	C123859895T	XIAP	NM_001204401.2(XIAP):c.-43C>T	noncoding	Benign
X	123885685	G	A	G123885685A	XIAP	NM_001167.4(XIAP):c.23G>A:p.Gly8Glu	coding	Benign
X	123885808	G	A	G123885808A	XIAP	NM_001167.4(XIAP):c.146G>A:p.Arg49Gln	coding	Benign
X	123885958	A	G	A123885958G	XIAP	NM_001167.4(XIAP):c.296A>G:p.Glu99Gly	coding	Benign
X	123885970	C	T	C123885970T	XIAP	NM_001167.4(XIAP):c.308C>T:p.Thr103Met	coding	Benign
X	123886007	C	G	C123886007G	XIAP	NM_001167.4(XIAP):c.345C>G:p.Tyr115Ter	coding	Pathogenic
X	123888656	A	T	A123888656T	XIAP	NM_001167.4(XIAP):c.915A>T:p.Gly305=	coding	Benign
X	123888703	C	G	C123888703G	XIAP	NM_001167.4(XIAP):c.962C>G:p.Ala321Gly	coding	Benign/Likely_benign
X	123891236	A	G	A123891236G	XIAP	NM_001167.4(XIAP):c.978-2A>G	noncoding	Pathogenic
X	123891308	G	T	G123891308T	XIAP	NM_001167.4(XIAP):c.1048G>T:p.Glu350Ter	coding	Pathogenic
X	123891335	A	T	A123891335T	XIAP	NM_001167.4(XIAP):c.1056+19A>T	noncoding	Benign
X	123892749	A	G	A123892749G	XIAP	NM_001167.4(XIAP):c.1075A>G:p.Thr359Ala	coding	Benign
X	123892770	A	G	A123892770G	XIAP	NM_001167.4(XIAP):c.1096A>G:p.Ile366Val	coding	Benign
X	123892793	A	G	A123892793G	XIAP	NM_001167.4(XIAP):c.1099+20A>G	noncoding	Benign
X	123900474	T	G	T123900474G	XIAP	NM_001167.4(XIAP):c.1100-19T>G	noncoding	Benign
X	123900587	G	T	G123900587T	XIAP	NM_001167.4(XIAP):c.1194G>T:p.Gln398His	coding	Benign
X	123900589	T	G	T123900589G	XIAP	NM_001167.4(XIAP):c.1196T>G:p.Ile399Arg	coding	Benign
X	123900623	G	A	G123900623A	XIAP	NM_001167.4(XIAP):c.1230G>A:p.Leu410=	coding	Benign
X	123900700	A	G	A123900700G	XIAP	NM_001167.4(XIAP):c.1300+7A>G	noncoding	Benign
X	123907002	G	T	G123907002T	XIAP	NM_001167.4(XIAP):c.1315G>T:p.Glu439Ter	coding	Pathogenic
X	123907103	A	G	A123907103G	XIAP	NM_001167.4(XIAP):c.1416A>G:p.Lys472=	coding	Benign
X	124025683	A	G	A124025683G	STAG2	NM_001042750.2(STAG2):c.45-157A>G	noncoding	Benign
X	124025829	T	C	T124025829C	STAG2	NM_001042750.2(STAG2):c.45-11T>C	noncoding	Benign
X	124025922	T	C	T124025922C	STAG2	NM_001042750.2(STAG2):c.123+4T>C	noncoding	Benign
X	124042561	A	T	A124042561T	STAG2	NM_001042750.2(STAG2):c.386-8A>T	noncoding	Benign
X	124045161	T	C	T124045161C	STAG2	NM_001042750.2(STAG2):c.463-3T>C	noncoding	Benign
X	124045386	T	C	T124045386C	STAG2	NM_001042750.2(STAG2):c.667+18T>C	noncoding	Benign
X	124047460	A	G	A124047460G	STAG2	NM_001042750.2(STAG2):c.774A>G:p.Lys258=	coding	Benign
X	124047701	G	A	G124047701A	STAG2	NM_001042750.2(STAG2):c.819+196G>A	noncoding	Benign
X	124050177	C	T	C124050177T	STAG2	NM_001042750.2(STAG2):c.894-9C>T	noncoding	Benign
X	124050232	A	G	A124050232G	STAG2	NM_001042750.2(STAG2):c.940A>G:p.Ile314Val	coding	Benign
X	124050306	T	C	T124050306C	STAG2	NM_001042750.2(STAG2):c.1014T>C:p.Asp338=	coding	Benign
X	124050434	T	A	T124050434A	STAG2	NM_001042750.2(STAG2):c.1017+125T>A	noncoding	Benign
X	124051120	G	T	G124051120T	STAG2	NM_001042750.2(STAG2):c.1018-1G>T	noncoding	Pathogenic
X	124051204	T	C	T124051204C	STAG2	NM_001042750.2(STAG2):c.1101T>C:p.Phe367=	coding	Benign
X	124056170	C	T	C124056170T	STAG2	NM_001042750.2(STAG2):c.1239C>T:p.Val413=	coding	Benign
X	124058072	A	G	A124058072G	STAG2	NM_001042750.2(STAG2):c.1416+95A>G	noncoding	Benign
X	124061017	T	C	T124061017C	STAG2	NM_001042750.2(STAG2):c.1417-207T>C	noncoding	Benign
X	124061185	A	C	A124061185C	STAG2	NM_001042750.2(STAG2):c.1417-39A>C	noncoding	Benign
X	124061241	A	G	A124061241G	STAG2	NM_001042750.2(STAG2):c.1434A>G:p.Ala478=	coding	Benign
X	124061768	T	A	T124061768A	STAG2	NM_001042749.2(STAG2):c.1535-3T>A	noncoding	Benign/Likely_benign
X	124061850	C	T	C124061850T	STAG2	NM_001042750.2(STAG2):c.1614C>T:p.Pro538=	coding	Benign
X	124063096	G	A	G124063096A	STAG2	NM_001042750.2(STAG2):c.1732-20G>A	noncoding	Benign
X	124063099	A	G	A124063099G	STAG2	NM_001042750.2(STAG2):c.1732-17A>G	noncoding	Benign
X	124063113	C	T	C124063113T	STAG2	NM_001042750.2(STAG2):c.1732-3C>T	noncoding	Benign
X	124063707	T	C	T124063707C	STAG2	NM_001042750.2(STAG2):c.1822-141T>C	noncoding	Benign
X	124063839	A	G	A124063839G	STAG2	NM_001042750.2(STAG2):c.1822-9A>G	noncoding	Benign
X	124063875	C	T	C124063875T	STAG2	NM_001042750.2(STAG2):c.1849C>T:p.Arg617Trp	coding	Benign
X	124063886	A	G	A124063886G	STAG2	NM_001042750.2(STAG2):c.1860A>G:p.Val620=	coding	Benign
X	124064043	C	T	C124064043T	STAG2	NM_001042750.2(STAG2):c.2017C>T:p.Leu673=	coding	Benign
X	124065862	A	T	A124065862T	STAG2	NM_001042750.2(STAG2):c.2026-14A>T	noncoding	Benign
X	124066224	T	C	T124066224C	STAG2	NM_001042750.2(STAG2):c.2146T>C:p.Leu716=	coding	Benign
X	124066338	C	G	C124066338G	STAG2	NM_001042750.2(STAG2):c.2185-18C>G	noncoding	Benign
X	124066403	A	G	A124066403G	STAG2	NM_001042750.2(STAG2):c.2232A>G:p.Gln744=	coding	Benign
X	124076357	T	C	T124076357C	STAG2	NM_001042750.2(STAG2):c.2559T>C:p.Ser853=	coding	Benign
X	124078078	A	C	A124078078C	STAG2	NM_001042750.2(STAG2):c.2775+20A>C	noncoding	Benign
X	124081433	T	C	T124081433C	STAG2	NM_001042750.2(STAG2):c.2829T>C:p.Ser943=	coding	Benign
X	124081547	A	T	A124081547T	STAG2	NM_001042750.2(STAG2):c.2924+19A>T	noncoding	Benign
X	124083439	T	C	T124083439C	STAG2	NM_001042750.2(STAG2):c.2943T>C:p.Ala981=	coding	Benign/Likely_benign
X	124083560	G	T	G124083560T	STAG2	NM_001042750.2(STAG2):c.3053+11G>T	noncoding	Benign
X	124083677	A	G	A124083677G	STAG2	NM_001042750.2(STAG2):c.3053+128A>G	noncoding	Benign
X	124086532	C	T	C124086532T	STAG2	NM_001042750.2(STAG2):c.3054-15C>T	noncoding	Benign
X	124086533	G	A	G124086533A	STAG2	NM_001042750.2(STAG2):c.3054-14G>A	noncoding	Benign
X	124086782	A	G	A124086782G	STAG2	NM_001042750.2(STAG2):c.3277+12A>G	noncoding	Benign
X	124090571	C	T	C124090571T	STAG2	NM_001042750.2(STAG2):c.3278-4C>T	noncoding	Benign
X	124090927	A	G	A124090927G	STAG2	NM_001042750.2(STAG2):c.3541A>G:p.Ser1181Gly	coding	Benign
X	124094108	T	C	T124094108C	STAG2	NM_001042750.2(STAG2):c.3669T>C:p.Asn1223=	coding	Benign
X	124095446	A	T	A124095446T	STAG2	NM_001042750.2(STAG2):c.3780A>T:p.Glu1260Asp	coding	Benign
X	124100555	C	T	C124100555T	STAG2	NM_001042750.2(STAG2):c.3784-19C>T	noncoding	Benign
X	124100557	T	C	T124100557C	STAG2	NM_001042750.2(STAG2):c.3784-17T>C	noncoding	Benign
X	124346012	G	A	G124346012A	SH2D1A	Single_allele	noncoding	Benign
X	124346149	G	A	G124346149A	SH2D1A	Single_allele	noncoding	Benign
X	124346644	T	C	T124346644C	SH2D1A	NM_002351.5(SH2D1A):c.2T>C:p.Met1Thr	coding	Pathogenic/Likely_pathogenic
X	124365742	G	A	G124365742A	SH2D1A	NM_002351.5(SH2D1A):c.138-19G>A	noncoding	Benign
X	124365767	C	T	C124365767T	SH2D1A	NM_002351.5(SH2D1A):c.144C>T:p.His48=	coding	Benign
X	124365783	T	A	T124365783A	SH2D1A	NM_002351.5(SH2D1A):c.160T>A:p.Tyr54Asn	coding	Pathogenic
X	124365814	G	A	G124365814A	SH2D1A	NM_002351.5(SH2D1A):c.191G>A:p.Trp64Ter	coding	Pathogenic
X	124366141	T	G	T124366141G	SH2D1A	NM_002351.5(SH2D1A):c.201+317T>G	noncoding	Benign
X	124370093	C	A	C124370093A	SH2D1A	NM_002351.5(SH2D1A):c.202-83C>A	noncoding	Benign
X	124370175	G	C	G124370175C	SH2D1A	NM_002351.5(SH2D1A):c.202-1G>C	noncoding	Pathogenic
X	124370434	A	G	A124370434G	SH2D1A	NM_002351.5(SH2D1A):c.346+114A>G	noncoding	Benign
X	124385378	C	A	C124385378A	TENM1	NM_014253.3(TENM1):c.6055+299G>T	noncoding	Benign
X	124391833	T	A	T124391833A	TENM1	NM_014253.3(TENM1):c.5667+219A>T	noncoding	Benign
X	124392483	T	C	T124392483C	TENM1	NM_014253.3(TENM1):c.5371-135A>G	noncoding	Benign
X	124392638	C	T	C124392638T	TENM1	NM_014253.3(TENM1):c.5371-290G>A	noncoding	Benign
X	124406465	G	T	G124406465T	TENM1	NM_014253.3(TENM1):c.4986C>A:p.Thr1662=	coding	Benign
X	124420135	T	C	T124420135C	TENM1	NM_014253.3(TENM1):c.4961+176A>G	noncoding	Benign
X	124420796	T	C	T124420796C	TENM1	NM_014253.3(TENM1):c.4476A>G:p.Ala1492=	coding	Benign
X	124420876	A	G	A124420876G	TENM1	NM_014253.3(TENM1):c.4451-55T>C	noncoding	Benign
X	124421107	A	G	A124421107G	TENM1	NM_014253.3(TENM1):c.4451-286T>C	noncoding	Benign
X	124422772	C	T	C124422772T	TENM1	NM_014253.3(TENM1):c.4084-134G>A	noncoding	Benign
X	124453260	C	A	C124453260A	TENM1	NM_014253.3(TENM1):c.4083+77G>T	noncoding	Benign
X	124496940	G	A	G124496940A	TENM1	NM_014253.3(TENM1):c.3695+76C>T	noncoding	Benign
X	124503898	G	T	G124503898T	TENM1	NM_014253.3(TENM1):c.3302-195C>A	noncoding	Benign
X	124530314	C	T	C124530314T	TENM1	NM_014253.3(TENM1):c.2652-331G>A	noncoding	Benign
X	129540157	C	T	C129540157T	OCRL	Single_allele	noncoding	Benign
X	129540176	C	T	C129540176T	OCRL	Single_allele	noncoding	Benign
X	129544891	G	A	G129544891A	OCRL	NM_000276.4(OCRL):c.120-67G>A	noncoding	Benign
X	129544990	A	G	A129544990G	OCRL	NM_000276.4(OCRL):c.152A>G:p.His51Arg	coding	Benign/Likely_benign
X	129548298	A	G	A129548298G	OCRL	NM_000276.4(OCRL):c.200-265A>G	noncoding	Benign
X	129557305	T	C	T129557305C	OCRL	NM_000276.4(OCRL):c.239-20T>C	noncoding	Benign
X	129557370	G	A	G129557370A	OCRL	NM_000276.4(OCRL):c.284G>A:p.Arg95His	coding	Benign
X	129557449	C	T	C129557449T	OCRL	NM_000276.4(OCRL):c.349+14C>T	noncoding	Benign/Likely_benign
X	129560490	A	C	A129560490C	OCRL	NM_000276.4(OCRL):c.723-60A>C	noncoding	Benign
X	129560549	G	A	G129560549A	OCRL	NM_000276.4(OCRL):c.723-1G>A	noncoding	Pathogenic
X	129561258	G	T	G129561258T	OCRL	NM_000276.4(OCRL):c.904G>T:p.Glu302Ter	coding	Pathogenic
X	129561301	G	A	G129561301A	OCRL	NM_000276.4(OCRL):c.939+8G>A	noncoding	Benign
X	129562372	C	T	C129562372T	OCRL	NM_000276.4(OCRL):c.940-12C>T	noncoding	Benign
X	129562397	G	A	G129562397A	OCRL	NM_000276.4(OCRL):c.953G>A:p.Arg318His	coding	Pathogenic
X	129566186	G	A	G129566186A	OCRL	NM_000276.4(OCRL):c.1356+303G>A	noncoding	Benign
X	129567292	C	T	C129567292T	OCRL	NM_000276.4(OCRL):c.1395C>T:p.Asp465=	coding	Benign
X	129567328	T	C	T129567328C	OCRL	NM_000276.4(OCRL):c.1431T>C:p.Tyr477=	coding	Benign
X	129567355	G	A	G129567355A	OCRL	NM_000276.4(OCRL):c.1458G>A:p.Trp486Ter	coding	Pathogenic
X	129567591	G	C	G129567591C	OCRL	NM_000276.4(OCRL):c.1466+228G>C	noncoding	Benign
X	129569274	C	T	C129569274T	OCRL	NM_000276.4(OCRL):c.1477C>T:p.Arg493Trp	coding	Pathogenic
X	129569303	T	C	T129569303C	OCRL	NM_000276.4(OCRL):c.1506T>C:p.Leu502=	coding	Benign
X	129569364	G	A	G129569364A	OCRL	NM_000276.4(OCRL):c.1567G>A:p.Asp523Asn	coding	Pathogenic
X	129569374	C	T	C129569374T	OCRL	NM_000276.4(OCRL):c.1577C>T:p.Pro526Leu	coding	Pathogenic
X	129569395	T	C	T129569395C	OCRL	NM_000276.4(OCRL):c.1598T>C:p.Ile533Thr	coding	Pathogenic
X	129569400	G	T	G129569400T	OCRL	NM_000276.4(OCRL):c.1602+1G>T	coding	Pathogenic
X	129569410	G	A	G129569410A	OCRL	NM_000276.4(OCRL):c.1602+11G>A	noncoding	Benign
X	129574818	G	C	G129574818C	OCRL	NM_000276.4(OCRL):c.1603-322G>C	noncoding	Benign
X	129574933	G	T	G129574933T	OCRL	NM_000276.4(OCRL):c.1603-207G>T	noncoding	Benign
X	129574979	C	T	C129574979T	OCRL	NM_000276.4(OCRL):c.1603-161C>T	noncoding	Benign
X	129575439	A	T	A129575439T	OCRL	NM_000276.4(OCRL):c.1713+189A>T	noncoding	Benign
X	129575649	C	G	C129575649G	OCRL	NM_000276.4(OCRL):c.1714-248C>G	noncoding	Benign
X	129576236	C	T	C129576236T	OCRL	NM_000276.4(OCRL):c.1880-81C>T	noncoding	Benign
X	129576424	C	T	C129576424T	OCRL	NM_000276.4(OCRL):c.1987C>T:p.Arg663Ter	coding	Pathogenic
X	129576520	C	T	C129576520T	OCRL	NM_000276.4(OCRL):c.2083C>T:p.Arg695Ter	coding	Pathogenic/Likely_pathogenic
X	129584394	G	A	G129584394A	OCRL	NM_000276.4(OCRL):c.2139+27G>A	noncoding	Benign
X	129587216	A	G	A129587216G	OCRL	NM_000276.4(OCRL):c.2256+98A>G	noncoding	Benign
X	129587339	T	C	T129587339C	OCRL	NM_000276.4(OCRL):c.2256+221T>C	noncoding	Benign
X	129588177	A	T	A129588177T	OCRL	NM_000276.4(OCRL):c.2257-2A>T	noncoding	Pathogenic
X	129588307	A	G	A129588307G	OCRL	NM_000276.4(OCRL):c.2341+44A>G	noncoding	Benign
X	129588959	C	T	C129588959T	OCRL	NM_000276.4(OCRL):c.2415C>T:p.Tyr805=	coding	Benign/Likely_benign
X	129589014	G	A	G129589014A	OCRL	NM_000276.4(OCRL):c.2469+1G>A	coding	Pathogenic
X	129589215	A	G	A129589215G	OCRL	NM_000276.4(OCRL):c.2469+202A>G	noncoding	Benign
X	129590494	T	C	T129590494C	OCRL	NM_000276.4(OCRL):c.*224T>C	noncoding	Benign
X	129590548	G	A	G129590548A	OCRL	NM_000276.4(OCRL):c.*278G>A	noncoding	Benign
X	129648435	C	G	C129648435G	APLN	NM_017413.5(APLN):c.*5+186G>C	noncoding	Benign
X	129648559	G	A	G129648559A	APLN	NM_017413.5(APLN):c.*5+62C>T	noncoding	Benign
X	129654413	T	C	T129654413C	APLN	NM_017413.5(APLN):c.67+151A>G	noncoding	Benign
X	129654737	A	G	A129654737G	APLN	NM_017413.5(APLN):c.-107T>C	noncoding	Benign
X	129654944	A	G	A129654944G	APLN	NM_017413.5(APLN):c.-314T>C	noncoding	Benign
X	129741825	C	T	C129741825T	XPNPEP2	NM_003399.6(XPNPEP2):c.50-283C>T	noncoding	Benign
X	129742002	G	A	G129742002A	XPNPEP2	NM_003399.6(XPNPEP2):c.50-106G>A	noncoding	Benign
X	129768648	C	A	C129768648A	XPNPEP2	NM_003399.6(XPNPEP2):c.*163C>A	noncoding	Benign
X	129792390	C	T	C129792390T	SASH3	NM_018990.4(SASH3):c.505C>T:p.Gln169Ter	coding	Pathogenic
X	129792768	C	T	C129792768T	SASH3	NM_018990.4(SASH3):c.733C>T:p.Arg245Ter	coding	Pathogenic
X	129793049	C	T	C129793049T	SASH3	NM_018990.4(SASH3):c.862C>T:p.Arg288Ter	coding	Pathogenic
X	129793728	C	T	C129793728T	SASH3	NM_018990.4(SASH3):c.1039C>T:p.Arg347Cys	coding	Pathogenic
X	129806265	G	A	G129806265A	ZDHHC9	NM_016032.4(ZDHHC9):c.*105C>T	noncoding	Benign
X	129806433	G	A	G129806433A	ZDHHC9	NM_016032.4(ZDHHC9):c.1032C>T:p.Pro344=	coding	Benign
X	129806451	C	T	C129806451T	ZDHHC9	NM_016032.4(ZDHHC9):c.1014G>A:p.Pro338=	coding	Benign
X	129806481	G	C	G129806481C	ZDHHC9	NM_016032.4(ZDHHC9):c.984C>G:p.Pro328=	coding	Benign
X	129806504	T	C	T129806504C	ZDHHC9	NM_016032.4(ZDHHC9):c.979-18A>G	noncoding	Benign
X	129810890	G	A	G129810890A	ZDHHC9	NM_016032.4(ZDHHC9):c.978+15C>T	noncoding	Benign
X	129811063	C	T	C129811063T	ZDHHC9	NM_016032.4(ZDHHC9):c.882-62G>A	noncoding	Benign
X	129811718	A	G	A129811718G	ZDHHC9	NM_016032.4(ZDHHC9):c.778-209T>C	noncoding	Benign
X	129812702	G	A	G129812702A	ZDHHC9	NM_016032.4(ZDHHC9):c.777+16C>T	noncoding	Benign
X	129812842	T	C	T129812842C	ZDHHC9	NM_016032.4(ZDHHC9):c.675-22A>G	noncoding	Benign
X	129812900	G	T	G129812900T	ZDHHC9	NM_016032.4(ZDHHC9):c.675-80C>A	noncoding	Benign
X	129813657	A	G	A129813657G	ZDHHC9	NM_016032.4(ZDHHC9):c.674+20T>C	noncoding	Benign
X	129813666	G	A	G129813666A	ZDHHC9	NM_016032.4(ZDHHC9):c.674+11C>T	noncoding	Benign
X	129814535	T	C	T129814535C	ZDHHC9	NM_016032.4(ZDHHC9):c.625+123A>G	noncoding	Benign
X	129814917	T	C	T129814917C	ZDHHC9	NM_016032.4(ZDHHC9):c.488-122A>G	noncoding	Benign
X	129823475	G	A	G129823475A	ZDHHC9	NM_016032.4(ZDHHC9):c.487+204C>T	noncoding	Benign
X	129823662	C	T	C129823662T	ZDHHC9	NM_016032.4(ZDHHC9):c.487+17G>A	noncoding	Benign
X	129823665	G	A	G129823665A	ZDHHC9	NM_016032.4(ZDHHC9):c.487+14C>T	noncoding	Benign
X	129828836	G	A	G129828836A	ZDHHC9	NM_016032.4(ZDHHC9):c.328+145C>T	noncoding	Benign
X	129829159	T	C	T129829159C	ZDHHC9	NM_016032.4(ZDHHC9):c.168-18A>G	noncoding	Benign
X	129841746	A	G	A129841746G	ZDHHC9	NM_016032.4(ZDHHC9):c.167+33T>C	noncoding	Benign
X	129841802	T	A	T129841802A	ZDHHC9	NM_016032.4(ZDHHC9):c.144A>T:p.Thr48=	coding	Benign/Likely_benign
X	130013244	G	A	G130013244A	BCORL1	NM_001379451.1(BCORL1):c.472G>A:p.Gly158Arg	coding	Benign
X	130013397	G	A	G130013397A	BCORL1	NM_001379451.1(BCORL1):c.625G>A:p.Gly209Ser	coding	Benign
X	130015961	C	T	C130015961T	BCORL1	NM_001379451.1(BCORL1):c.3189C>T:p.Ala1063=	coding	Benign
X	130016168	C	G	C130016168G	BCORL1	NM_001379451.1(BCORL1):c.3396C>G:p.Leu1132=	coding	Benign
X	130071097	C	G	C130071097G	ELF4	NM_001421.4(ELF4):c.752G>C:p.Trp251Ser	coding	Pathogenic
X	130071158	A	G	A130071158G	ELF4	NM_001421.4(ELF4):c.691T>C:p.Trp231Arg	coding	Pathogenic
X	130071392	G	T	G130071392T	ELF4	NM_001421.4(ELF4):c.560C>A:p.Thr187Asn	coding	Pathogenic
X	130130131	C	T	C130130131T	AIFM1	NM_004208.4(AIFM1):c.1609G>A:p.Glu537Lys	coding	Benign/Likely_benign
X	130131790	C	T	C130131790T	AIFM1	NM_004208.4(AIFM1):c.1458G>A:p.Leu486=	coding	Benign/Likely_benign
X	130136005	G	A	G130136005A	AIFM1	NM_004208.4(AIFM1):c.1305+40C>T	noncoding	Benign
X	130136638	C	T	C130136638T	AIFM1	NM_004208.4(AIFM1):c.1164+5G>A	noncoding	Pathogenic
X	130137058	T	C	T130137058C	AIFM1	NM_004208.4(AIFM1):c.1075+20A>G	noncoding	Benign/Likely_benign
X	130137134	A	G	A130137134G	AIFM1	NM_004208.4(AIFM1):c.1019T>C:p.Met340Thr	coding	Pathogenic/Likely_pathogenic
X	130145673	C	T	C130145673T	AIFM1	NM_004208.4(AIFM1):c.606-104G>A	noncoding	Benign
X	130147963	G	A	G130147963A	AIFM1	NM_004208.4(AIFM1):c.350-87C>T	noncoding	Benign
X	130149572	C	T	C130149572T	AIFM1	NM_004208.4(AIFM1):c.250-4G>A	noncoding	Benign
X	130156725	T	C	T130156725C	AIFM1	NM_004208.4(AIFM1):c.107-122A>G	noncoding	Benign
X	130165536	G	C	G130165536C	AIFM1	NM_004208.4(AIFM1):c.106+15C>G	noncoding	Benign
X	131273901	G	C	G131273901C	IGSF1	NM_001555.5(IGSF1):c.3906C>G:p.Thr1302=	coding	Benign
X	131274168	G	A	G131274168A	IGSF1	NM_001555.5(IGSF1):c.3790C>T:p.Arg1264Ter	coding	Pathogenic
X	131274195	G	A	G131274195A	IGSF1	NM_001555.5(IGSF1):c.3763C>T:p.Gln1255Ter	coding	Pathogenic
X	131274457	T	C	T131274457C	IGSF1	NM_001555.5(IGSF1):c.3751+142A>G	noncoding	Benign
X	131274800	G	A	G131274800A	IGSF1	NM_001555.5(IGSF1):c.3550C>T:p.Arg1184Ter	coding	Pathogenic
X	131275910	A	T	A131275910T	IGSF1	NM_001555.5(IGSF1):c.2896+51T>A	noncoding	Benign
X	131275927	C	T	C131275927T	IGSF1	NM_001555.5(IGSF1):c.2896+34G>A	noncoding	Benign
X	131276823	T	C	T131276823C	IGSF1	NM_001555.5(IGSF1):c.2608+116A>G	noncoding	Benign
X	131278044	C	G	C131278044G	IGSF1	NM_001555.5(IGSF1):c.2132G>C:p.Gly711Ala	coding	Benign/Likely_benign
X	131278204	C	G	C131278204G	IGSF1	NM_001555.5(IGSF1):c.2042-70G>C	noncoding	Benign
X	131278437	C	T	C131278437T	IGSF1	NM_001555.5(IGSF1):c.2041+24G>A	noncoding	Benign
X	131278536	C	T	C131278536T	IGSF1	NM_001555.5(IGSF1):c.1966G>A:p.Gly656Arg	coding	Pathogenic
X	131278690	C	T	C131278690T	IGSF1	NM_001555.5(IGSF1):c.1812G>A:p.Pro604=	coding	Benign/Likely_benign
X	131279468	G	C	G131279468C	IGSF1	NM_001555.5(IGSF1):c.1647-127C>G	noncoding	Benign
X	131285348	C	G	C131285348G	IGSF1	NM_001555.5(IGSF1):c.498G>C:p.Glu166Asp	coding	Benign/Likely_benign
X	131285672	A	G	A131285672G	IGSF1	NM_001555.5(IGSF1):c.379+95T>C	noncoding	Benign
X	131286032	T	C	T131286032C	IGSF1	NM_001555.5(IGSF1):c.114A>G:p.Pro38=	coding	Benign
X	131286441	T	C	T131286441C	IGSF1	NM_001555.5(IGSF1):c.93A>G:p.Ser31=	coding	Benign
X	131286528	A	C	A131286528C	IGSF1	NM_001555.5(IGSF1):c.71-65T>G	noncoding	Benign
X	131286604	C	T	C131286604T	IGSF1	NM_001555.5(IGSF1):c.70+1G>A	noncoding	Pathogenic
X	132077994	C	T	C132077994T	FRMD7	NM_194277.3(FRMD7):c.2023G>A:p.Ala675Thr	coding	Benign
X	132078056	T	G	T132078056G	FRMD7	NM_194277.3(FRMD7):c.1961A>C:p.Glu654Ala	coding	Benign
X	132078276	T	C	T132078276C	FRMD7	NM_194277.3(FRMD7):c.1741A>G:p.Asn581Asp	coding	Benign
X	132078343	G	A	G132078343A	FRMD7	NM_194277.3(FRMD7):c.1674C>T:p.Ser558=	coding	Benign
X	132078461	G	A	G132078461A	FRMD7	NM_194277.3(FRMD7):c.1556C>T:p.Pro519Leu	coding	Benign
X	132078486	T	C	T132078486C	FRMD7	NM_194277.3(FRMD7):c.1531A>G:p.Ile511Val	coding	Benign
X	132078490	G	A	G132078490A	FRMD7	NM_194277.3(FRMD7):c.1527C>T:p.Ser509=	coding	Benign
X	132078512	G	A	G132078512A	FRMD7	NM_194277.3(FRMD7):c.1505C>T:p.Pro502Leu	coding	Benign
X	132078524	T	A	T132078524A	FRMD7	NM_194277.3(FRMD7):c.1493A>T:p.Tyr498Phe	coding	Benign
X	132078630	G	A	G132078630A	FRMD7	NM_194277.3(FRMD7):c.1387C>T:p.Leu463Phe	coding	Benign
X	132078643	G	A	G132078643A	FRMD7	NM_194277.3(FRMD7):c.1374C>T:p.Ser458=	coding	Benign
X	132079994	C	T	C132079994T	FRMD7	NM_194277.3(FRMD7):c.1050+12G>A	noncoding	Benign
X	132080069	T	C	T132080069C	FRMD7	NM_194277.3(FRMD7):c.987A>G:p.Pro329=	coding	Benign
X	132080182	A	G	A132080182G	FRMD7	NM_194277.3(FRMD7):c.974+16T>C	noncoding	Benign
X	132080185	C	T	C132080185T	FRMD7	NM_194277.3(FRMD7):c.974+13G>A	noncoding	Benign
X	132080218	C	A	C132080218A	FRMD7	NM_194277.3(FRMD7):c.954G>T:p.Leu318=	coding	Benign
X	132082344	A	G	A132082344G	FRMD7	NM_194277.3(FRMD7):c.905+19T>C	noncoding	Benign
X	132082365	A	G	A132082365G	FRMD7	NM_194277.3(FRMD7):c.903T>C:p.Tyr301=	coding	Benign
X	132082370	G	A	G132082370A	FRMD7	NM_194277.3(FRMD7):c.898C>T:p.Arg300Cys	coding	Benign
X	132082393	A	G	A132082393G	FRMD7	NM_194277.3(FRMD7):c.875T>C:p.Leu292Pro	coding	Pathogenic
X	132082398	G	C	G132082398C	FRMD7	NM_194277.3(FRMD7):c.870C>G:p.Thr290=	coding	Benign
X	132082425	C	T	C132082425T	FRMD7	NM_194277.3(FRMD7):c.843G>A:p.Ser281=	coding	Benign
X	132082490	T	C	T132082490C	FRMD7	NM_194277.3(FRMD7):c.778A>G:p.Ser260Gly	coding	Benign
X	132082656	G	T	G132082656T	FRMD7	NM_194277.3(FRMD7):c.742-130C>A	noncoding	Benign
X	132084523	C	T	C132084523T	FRMD7	NM_194277.3(FRMD7):c.708G>A:p.Lys236=	coding	Benign
X	132085647	G	A	G132085647A	FRMD7	NM_194277.3(FRMD7):c.579C>T:p.Pro193=	coding	Benign
X	132085647	G	C	G132085647C	FRMD7	NM_194277.3(FRMD7):c.579C>G:p.Pro193=	coding	Benign
X	132085655	G	A	G132085655A	FRMD7	NM_194277.3(FRMD7):c.571C>T:p.Pro191Ser	coding	Benign
X	132085967	G	T	G132085967T	FRMD7	NM_194277.3(FRMD7):c.450C>A:p.Asn150Lys	coding	Benign
X	132086048	A	G	A132086048G	FRMD7	NM_194277.3(FRMD7):c.383-14T>C	noncoding	Benign/Likely_benign
X	132086166	C	T	C132086166T	FRMD7	NM_194277.3(FRMD7):c.383-132G>A	noncoding	Benign
X	132094077	T	C	T132094077C	FRMD7	NM_194277.3(FRMD7):c.347A>G:p.Asn116Ser	coding	Benign
X	132094107	A	T	A132094107T	FRMD7	NM_194277.3(FRMD7):c.317T>A:p.Leu106Ter	coding	Pathogenic
X	132094243	C	G	C132094243G	FRMD7	NM_194277.3(FRMD7):c.285-104G>C	noncoding	Benign
X	132097229	G	A	G132097229A	FRMD7	NM_194277.3(FRMD7):c.284+37C>T	noncoding	Benign
X	132097260	C	T	C132097260T	FRMD7	NM_194277.3(FRMD7):c.284+6G>A	noncoding	Benign
X	132097281	C	T	C132097281T	FRMD7	NM_194277.3(FRMD7):c.269G>A:p.Arg90Gln	coding	Benign
X	132097318	T	C	T132097318C	FRMD7	NM_194277.3(FRMD7):c.232A>G:p.Met78Val	coding	Benign
X	132097340	A	G	A132097340G	FRMD7	NM_194277.3(FRMD7):c.210T>C:p.Pro70=	coding	Benign
X	132099466	A	C	A132099466C	FRMD7	NM_194277.3(FRMD7):c.205+2T>G	noncoding	Pathogenic
X	132099511	C	A	C132099511A	FRMD7	NM_194277.3(FRMD7):c.163-1G>T	coding	Pathogenic
X	132099649	A	G	A132099649G	FRMD7	NM_194277.3(FRMD7):c.163-139T>C	noncoding	Benign
X	132100476	T	C	T132100476C	FRMD7	NM_194277.3(FRMD7):c.162+136A>G	noncoding	Benign
X	132100687	G	A	G132100687A	FRMD7	NM_194277.3(FRMD7):c.87C>T:p.Asn29=	coding	Benign
X	132127815	A	G	A132127815G	FRMD7	NM_194277.3(FRMD7):c.30T>C:p.Asp10=	coding	Benign
X	132127844	T	C	T132127844C	FRMD7	NM_194277.3(FRMD7):c.1A>G:p.Met1Val	coding	Pathogenic
X	133027645	C	T	C133027645T	USP26	NM_031907.3(USP26):c.576G>A:p.Glu192=	coding	Benign
X	133303309	G	A	G133303309A	GPC4	NM_001448.3(GPC4):c.1325C>T:p.Ala442Val	coding	Benign
X	133304844	C	A	C133304844A	GPC4	NM_001448.3(GPC4):c.1173G>T:p.Glu391Asp	coding	Benign
X	133311716	A	T	A133311716T	GPC4	NM_001448.3(GPC4):c.712-293T>A	noncoding	Benign
X	133324210	C	A	C133324210A	GPC4	NM_001448.3(GPC4):c.646G>T:p.Val216Leu	coding	Benign
X	133339617	A	G	A133339617G	GPC4	NM_001448.3(GPC4):c.161-276T>C	noncoding	Benign
X	133414710	T	C	T133414710C	GPC4	NM_001448.3(GPC4):c.160+96A>G	noncoding	Benign
X	133414985	G	A	G133414985A	GPC4	NM_001448.3(GPC4):c.-20C>T	noncoding	Benign
X	133536184	C	T	C133536184T	GPC3	NM_004484.4(GPC3):c.1683G>A:p.Pro561=	coding	Benign
X	133596420	G	A	G133596420A	GPC3	NM_004484.4(GPC3):c.1573+20C>T	noncoding	Benign
X	133596719	T	A	T133596719A	GPC3	NM_004484.4(GPC3):c.1414-120A>T	noncoding	Benign
X	133661811	C	T	C133661811T	GPC3	NM_004484.4(GPC3):c.1332G>A:p.Gln444=	coding	Benign
X	133682663	T	C	T133682663C	GPC3	NM_004484.4(GPC3):c.1292+9706A>G	noncoding	Benign
X	133692659	T	A	T133692659A	GPC3	NM_004484.4(GPC3):c.1167-165A>T	noncoding	Benign
X	133699627	T	C	T133699627C	GPC3	NM_004484.4(GPC3):c.1166+268A>G	noncoding	Benign
X	133700046	A	G	A133700046G	GPC3	NM_004484.4(GPC3):c.1033-18T>C	noncoding	Benign
X	133700284	C	T	C133700284T	GPC3	NM_004484.4(GPC3):c.1033-256G>A	noncoding	Benign
X	133700363	T	C	T133700363C	GPC3	NM_004484.4(GPC3):c.1033-335A>G	noncoding	Benign
X	133704262	C	T	C133704262T	GPC3	NM_004484.4(GPC3):c.1033-4234G>A	coding	Benign
X	133704438	G	A	G133704438A	GPC3	NM_004484.4(GPC3):c.1033-4410C>T	noncoding	Benign
X	133704575	C	T	C133704575T	GPC3	NM_004484.4(GPC3):c.1033-4547G>A	noncoding	Benign
X	133753271	A	G	A133753271G	GPC3	NM_004484.4(GPC3):c.1032+211T>C	noncoding	Benign
X	133753485	G	A	G133753485A	GPC3	NM_004484.4(GPC3):c.1029C>T:p.Thr343=	coding	Benign
X	133753512	G	A	G133753512A	GPC3	NM_004484.4(GPC3):c.1002C>T:p.Val334=	coding	Benign/Likely_benign
X	133753622	C	A	C133753622A	GPC3	NM_004484.4(GPC3):c.892G>T:p.Glu298Ter	coding	Pathogenic
X	133753629	G	T	G133753629T	GPC3	NM_004484.4(GPC3):c.885C>A:p.Tyr295Ter	coding	Pathogenic
X	133753689	G	A	G133753689A	GPC3	NM_004484.4(GPC3):c.825C>T:p.Gly275=	coding	Benign
X	133753754	G	A	G133753754A	GPC3	NM_004484.4(GPC3):c.760C>T:p.Arg254Ter	coding	Pathogenic
X	133753821	C	T	C133753821T	GPC3	NM_004484.4(GPC3):c.693G>A:p.Gln231=	coding	Benign/Likely_benign
X	133953060	C	T	C133953060T	GPC3	NM_004484.4(GPC3):c.327G>A:p.Ala109=	coding	Benign
X	133953061	G	A	G133953061A	GPC3	NM_004484.4(GPC3):c.326C>T:p.Ala109Val	coding	Benign
X	133953136	G	A	G133953136A	GPC3	NM_004484.4(GPC3):c.251C>T:p.Thr84Ile	coding	Benign
X	133985266	C	T	C133985266T	GPC3	NM_004484.4(GPC3):c.175+9G>A	noncoding	Benign
X	133985273	A	G	A133985273G	GPC3	NM_004484.4(GPC3):c.175+2T>C	noncoding	Pathogenic
X	134377702	G	T	G134377702T	PHF6	NM_001015877.2(PHF6):c.85G>T:p.Gly29Ter	coding	Pathogenic
X	134393488	C	T	C134393488T	PHF6	NM_001015877.2(PHF6):c.241-13C>T	noncoding	Benign
X	134393756	A	G	A134393756G	PHF6	NM_001015877.2(PHF6):c.374+122A>G	noncoding	Benign
X	134393949	G	T	G134393949T	PHF6	NM_001015877.2(PHF6):c.415G>T:p.Glu139Ter	coding	Pathogenic
X	134394086	A	C	A134394086C	PHF6	NM_001015877.2(PHF6):c.418+134A>C	noncoding	Benign
X	134417224	G	T	G134417224T	PHF6	NM_001015877.2(PHF6):c.890G>T:p.Cys297Phe	coding	Pathogenic
X	134459991	T	G	T134459991G	HPRT1	Single_allele	noncoding	Benign
X	134460156	C	G	C134460156G	HPRT1	Single_allele	noncoding	Benign
X	134460312	A	G	A134460312G	HPRT1	NM_000194.3(HPRT1):c.1A>G:p.Met1Val	coding	Pathogenic
X	134473449	G	T	G134473449T	HPRT1	NM_000194.3(HPRT1):c.118G>T:p.Gly40Ter	coding	Pathogenic
X	134475249	T	C	T134475249C	HPRT1	NM_000194.3(HPRT1):c.203T>C:p.Leu68Pro	coding	Pathogenic
X	134475255	G	A	G134475255A	HPRT1	NM_000194.2(HPRT1):c.209G>A:p.Gly70Glu	coding	Pathogenic
X	134475258	G	T	G134475258T	HPRT1	NM_000194.3(HPRT1):c.212G>T:p.Gly71Val	coding	Pathogenic
X	134475279	T	C	T134475279C	HPRT1	NM_000194.3(HPRT1):c.233T>C:p.Leu78Pro	coding	Pathogenic
X	134486549	A	G	A134486549G	HPRT1	NM_000194.3(HPRT1):c.384+19A>G	noncoding	Benign
X	134493535	C	T	C134493535T	HPRT1	NM_000194.3(HPRT1):c.430C>T:p.Gln144Ter	coding	Pathogenic
X	134493881	A	G	A134493881G	HPRT1	NM_000194.3(HPRT1):c.485+291A>G	noncoding	Benign
X	134498379	G	A	G134498379A	HPRT1	NM_000194.3(HPRT1):c.486-11G>A	noncoding	Benign
X	134498409	C	G	C134498409G	HPRT1	NM_000194.3(HPRT1):c.505C>G:p.Pro169Ala	coding	Benign/Likely_benign
X	134498412	C	A	C134498412A	HPRT1	NM_000194.3(HPRT1):c.508C>A:p.Arg170=	coding	Benign
X	134498426	T	C	T134498426C	HPRT1	NM_000194.3(HPRT1):c.522T>C:p.Tyr174=	coding	Benign
X	134498607	G	A	G134498607A	HPRT1	NM_000194.3(HPRT1):c.533-1G>A	noncoding	Pathogenic
X	134498614	G	A	G134498614A	HPRT1	NM_000194.3(HPRT1):c.539G>A:p.Gly180Glu	coding	Pathogenic
X	134499809	A	C	A134499809C	HPRT1	NM_000194.3(HPRT1):c.610-221A>C	noncoding	Benign
X	135967168	G	A	G135967168A	MMGT1	NM_173470.3(MMGT1):c.236+222C>T	noncoding	Benign
X	135970904	G	C	G135970904C	MMGT1	NM_173470.3(MMGT1):c.132+154C>G	noncoding	Benign
X	135973535	T	C	T135973535C	MMGT1	NM_173470.3(MMGT1):c.79+62A>G	noncoding	Benign
X	135973974	C	T	C135973974T	MMGT1	NM_173470.3(MMGT1):c.-299G>A	noncoding	Benign
X	135985135	G	A	G135985135A	SLC9A6	NM_001400909.1(SLC9A6):c.-35-489G>A	noncoding	Benign
X	135985493	G	C	G135985493C	SLC9A6	NM_001379110.1(SLC9A6):c.-57+16G>C	noncoding	Benign
X	135985560	C	T	C135985560T	SLC9A6	NM_001379110.1(SLC9A6):c.-56-43C>T	coding	Pathogenic
X	135985568	C	G	C135985568G	SLC9A6	NM_001379110.1(SLC9A6):c.-56-35C>G	coding	Benign
X	135985715	C	T	C135985715T	SLC9A6	NM_001379110.1(SLC9A6):c.57C>T:p.Ser19=	coding	Benign/Likely_benign
X	135994836	G	A	G135994836A	SLC9A6	NM_001379110.1(SLC9A6):c.220G>A:p.Val74Ile	coding	Benign
X	135998411	G	C	G135998411C	SLC9A6	NM_001379110.1(SLC9A6):c.448-71G>C	noncoding	Benign
X	136012652	T	C	T136012652C	SLC9A6	NM_001379110.1(SLC9A6):c.886-297T>C	noncoding	Benign
X	136012948	C	A	C136012948A	SLC9A6	NM_001379110.1(SLC9A6):c.886-1C>A	noncoding	Pathogenic
X	136013016	G	T	G136013016T	SLC9A6	NM_001379110.1(SLC9A6):c.953G>T:p.Trp318Leu	coding	Pathogenic
X	136013362	A	G	A136013362G	SLC9A6	NM_001379110.1(SLC9A6):c.1005A>G:p.Val335=	coding	Benign/Likely_benign
X	136013447	A	G	A136013447G	SLC9A6	NM_001379110.1(SLC9A6):c.1080+10A>G	noncoding	Benign
X	136013468	C	A	C136013468A	SLC9A6	NM_001379110.1(SLC9A6):c.1080+31C>A	noncoding	Benign
X	136022523	G	A	G136022523A	SLC9A6	NM_001379110.1(SLC9A6):c.1195-63G>A	noncoding	Benign
X	136030069	T	C	T136030069C	SLC9A6	NM_001379110.1(SLC9A6):c.1551-63T>C	noncoding	Benign
X	136044571	A	G	A136044571G	SLC9A6	NM_001379110.1(SLC9A6):c.1887A>G:p.Arg629=	coding	Benign
X	136044606	G	A	G136044606A	SLC9A6	NM_001379110.1(SLC9A6):c.1922G>A:p.Arg641Gln	coding	Benign
X	136044706	G	A	G136044706A	SLC9A6	NM_001379110.1(SLC9A6):c.2022G>A:p.Thr674=	coding	Benign
X	136044732	A	T	A136044732T	SLC9A6	NM_001379110.1(SLC9A6):c.*8A>T	noncoding	Benign
X	136147468	A	C	A136147468C	FHL1	Single_allele	noncoding	Benign
X	136147571	C	T	C136147571T	FHL1	NM_001159702.3(FHL1):c.-158C>T	noncoding	Benign
X	136206439	G	T	G136206439T	FHL1	NM_001159699.2(FHL1):c.55G>T:p.Glu19Ter	coding	Pathogenic
X	136206602	C	G	C136206602G	FHL1	NM_001159699.2(FHL1):c.204+14C>G	noncoding	Benign/Likely_benign
X	136207054	C	A	C136207054A	FHL1	NM_001159699.2(FHL1):c.243C>A:p.Cys81Ter	coding	Pathogenic
X	136207190	G	T	G136207190T	FHL1	NM_001159699.2(FHL1):c.379G>T:p.Gly127Ter	coding	Pathogenic
X	136207776	T	C	T136207776C	FHL1	NM_001159699.2(FHL1):c.380-16T>C	noncoding	Benign
X	136207908	T	C	T136207908C	FHL1	NM_001159699.2(FHL1):c.496T>C:p.Cys166Arg	coding	Pathogenic/Likely_pathogenic
X	136208481	C	G	C136208481G	FHL1	NM_001159699.2(FHL1):c.576C>G:p.Tyr192Ter	coding	Pathogenic
X	136208495	G	A	G136208495A	FHL1	NM_001159699.2(FHL1):c.590G>A:p.Trp197Ter	coding	Pathogenic
X	136210009	G	A	G136210009A	FHL1	NM_001159699.2(FHL1):c.875G>A:p.Cys292Tyr	coding	Pathogenic
X	136351559	A	G	A136351559G	ADGRG4	NM_153834.4(ADGRG4):c.6822+18A>G	noncoding	Benign
X	136648263	C	A	C136648263A	CD40LG	NM_000074.3(CD40LG):c.15C>A:p.Tyr5Ter	coding	Pathogenic
X	136648278	C	G	C136648278G	CD40LG	NM_000074.3(CD40LG):c.30C>G:p.Pro10=	coding	Benign
X	136648287	G	A	G136648287A	CD40LG	NM_000074.3(CD40LG):c.39G>A:p.Ala13=	coding	Benign
X	136648406	T	C	T136648406C	CD40LG	NM_000074.3(CD40LG):c.156+2T>C	noncoding	Pathogenic
X	136648421	G	A	G136648421A	CD40LG	NM_000074.3(CD40LG):c.156+17G>A	noncoding	Benign
X	136649989	G	A	G136649989A	CD40LG	NM_000074.3(CD40LG):c.157-277G>A	noncoding	Benign
X	136650275	G	T	G136650275T	CD40LG	NM_000074.3(CD40LG):c.166G>T:p.Glu56Ter	coding	Pathogenic
X	136650313	G	A	G136650313A	CD40LG	NM_000074.3(CD40LG):c.204G>A:p.Thr68=	coding	Benign
X	136654046	T	C	T136654046C	CD40LG	NM_000074.3(CD40LG):c.289-327T>C	noncoding	Benign
X	136654371	A	C	A136654371C	CD40LG	NM_000074.3(CD40LG):c.289-2A>C	noncoding	Pathogenic
X	136654372	G	A	G136654372A	CD40LG	NM_000074.3(CD40LG):c.289-1G>A	noncoding	Pathogenic
X	136654398	C	T	C136654398T	CD40LG	NM_000074.3(CD40LG):c.314C>T:p.Thr105Met	coding	Benign
X	136654399	G	A	G136654399A	CD40LG	NM_000074.3(CD40LG):c.315G>A:p.Thr105=	coding	Benign
X	136654431	G	A	G136654431A	CD40LG	NM_000074.3(CD40LG):c.346+1G>A	coding	Pathogenic
X	136654435	G	A	G136654435A	CD40LG	NM_000074.3(CD40LG):c.346+5G>A	noncoding	Pathogenic/Likely_pathogenic
X	136656394	G	T	G136656394T	CD40LG	NM_000074.3(CD40LG):c.385G>T:p.Glu129Ter	coding	Pathogenic
X	136656419	G	C	G136656419C	CD40LG	NM_000074.3(CD40LG):c.409+1G>C	coding	Pathogenic
X	136656435	C	T	C136656435T	CD40LG	NM_000074.3(CD40LG):c.409+17C>T	noncoding	Benign
X	136659107	C	T	C136659107T	CD40LG	NM_000074.3(CD40LG):c.478C>T:p.Gln160Ter	coding	Pathogenic
X	136659227	A	T	A136659227T	CD40LG	NM_000074.3(CD40LG):c.598A>T:p.Arg200Ter	coding	Pathogenic
X	136659229	A	G	A136659229G	CD40LG	NM_000074.3(CD40LG):c.600A>G:p.Arg200=	coding	Benign
X	136659290	C	T	C136659290T	CD40LG	NM_000074.3(CD40LG):c.661C>T:p.Gln221Ter	coding	Pathogenic
X	136659316	T	G	T136659316G	CD40LG	NM_000074.3(CD40LG):c.687T>G:p.Phe229Leu	coding	Pathogenic
X	136659337	G	A	G136659337A	CD40LG	NM_000074.3(CD40LG):c.708G>A:p.Ser236=	coding	Benign
X	136659370	G	C	G136659370C	CD40LG	NM_000074.3(CD40LG):c.741G>C:p.Val247=	coding	Benign
X	136879428	G	T	G136879428T	RBMX	NM_002139.4(RBMX):c.-1C>A	coding	Benign
X	137030381	G	A	G137030381A	GPR101	NM_054021.2(GPR101):c.1294C>T:p.Pro432Ser	coding	Benign
X	137030548	A	G	A137030548G	GPR101	NM_054021.2(GPR101):c.1127T>C:p.Leu376Pro	coding	Benign
X	137030577	G	T	G137030577T	GPR101	NM_054021.2(GPR101):c.1098C>A:p.Asp366Glu	coding	Pathogenic
X	137030797	G	A	G137030797A	GPR101	NM_054021.2(GPR101):c.878C>T:p.Thr293Ile	coding	Benign
X	137031305	C	A	C137031305A	GPR101	NM_054021.2(GPR101):c.370G>T:p.Val124Leu	coding	Benign
X	137565967	C	T	C137565967T	ZIC3	Single_allele	noncoding	Benign
X	137567430	A	G	A137567430G	ZIC3	NM_003413.4(ZIC3):c.739A>G:p.Ile247Val	coding	Benign
X	137568775	A	T	A137568775T	ZIC3	NM_003413.4(ZIC3):c.1061-127A>T	noncoding	Benign
X	137570008	G	A	G137570008A	ZIC3	NM_003413.4(ZIC3):c.1342G>A:p.Val448Ile	coding	Benign/Likely_benign
X	138710963	C	G	C138710963G	FGF13	NM_004114.5(FGF13):c.41G>C:p.Arg14Thr	coding	Pathogenic
X	138710972	C	G	C138710972G	FGF13	NM_004114.5(FGF13):c.32G>C:p.Arg11Pro	coding	Pathogenic
X	138710973	G	A	G138710973A	FGF13	NM_004114.5(FGF13):c.31C>T:p.Arg11Cys	coding	Pathogenic
X	138710981	G	T	G138710981T	FGF13	NM_004114.5(FGF13):c.23C>A:p.Ser8Ter	coding	Pathogenic
X	139530710	G	C	G139530710C	F9	NG_007994.1:g.4975G>C	noncoding	Pathogenic
X	139530716	T	A	T139530716A	F9	NG_007994.1:g.4981T>A	noncoding	Pathogenic
X	139530731	A	T	A139530731T	F9	NG_007994.1:g.4996A>T	noncoding	Pathogenic
X	139530743	T	C	T139530743C	F9	NM_000133.4(F9):c.-22T>C	noncoding	Pathogenic
X	139530748	A	G	A139530748G	F9	NM_000133.4(F9):c.-17A>G	noncoding	Pathogenic
X	139530772	G	A	G139530772A	F9	NM_000133.4(F9):c.8G>A:p.Arg3His	coding	Benign/Likely_benign
X	139530783	A	T	A139530783T	F9	NM_000133.4(F9):c.19A>T:p.Ile7Phe	coding	Benign/Likely_benign
X	139530812	C	A	C139530812A	F9	NM_000133.4(F9):c.48C>A:p.Thr16=	coding	Benign
X	139530854	T	C	T139530854C	F9	NM_000133.4(F9):c.88+2T>C	noncoding	Pathogenic
X	139537031	C	T	C139537031T	F9	NM_000133.4(F9):c.110C>T:p.Ala37Val	coding	Pathogenic
X	139537084	T	A	T139537084A	F9	NM_000133.4(F9):c.163T>A:p.Phe55Ile	coding	Pathogenic
X	139537112	G	A	G139537112A	F9	NM_000133.4(F9):c.191G>A:p.Cys64Tyr	coding	Pathogenic
X	139537127	G	A	G139537127A	F9	NM_000133.4(F9):c.206G>A:p.Cys69Tyr	coding	Pathogenic
X	139537386	G	A	G139537386A	F9	NM_000133.4(F9):c.277G>A:p.Asp93Asn	coding	Pathogenic
X	139541049	A	G	A139541049G	F9	NM_000133.4(F9):c.278-27A>G	noncoding	Benign
X	139541182	T	A	T139541182A	F9	NM_000133.4(F9):c.384T>A:p.Cys128Ter	coding	Pathogenic
X	139541193	A	G	A139541193G	F9	NM_000133.4(F9):c.391+4A>G	noncoding	Benign
X	139548442	T	A	T139548442A	F9	NM_000133.4(F9):c.471T>A:p.Cys157Ter	coding	Pathogenic
X	139548470	C	T	C139548470T	F9	NM_000133.4(F9):c.499C>T:p.Gln167Ter	coding	Pathogenic
X	139551073	T	C	T139551073C	F9	NM_000133.4(F9):c.532T>C:p.Cys178Arg	coding	Pathogenic
X	139551220	G	A	G139551220A	F9	NM_000133.4(F9):c.679G>A:p.Val227Ile	coding	Benign
X	139560799	G	A	G139560799A	F9	NM_000133.4(F9):c.782G>A:p.Trp261Ter	coding	Pathogenic
X	139561523	G	A	G139561523A	F9	NM_000133.4(F9):c.839-1G>A	noncoding	Pathogenic
X	139561524	G	A	G139561524A	F9	NM_000133.4(F9):c.839G>A:p.Gly280Asp	coding	Pathogenic
X	139561575	T	A	T139561575A	F9	NM_000133.4(F9):c.890T>A:p.Ile297Asn	coding	Pathogenic
X	139561592	C	T	C139561592T	F9	NM_000133.4(F9):c.907C>T:p.His303Tyr	coding	Benign/Likely_benign
X	139561651	C	T	C139561651T	F9	NM_000133.4(F9):c.966C>T:p.Asp322=	coding	Benign
X	139561675	C	A	C139561675A	F9	NM_000133.4(F9):c.990C>A:p.Tyr330Ter	coding	Pathogenic
X	139561733	T	G	T139561733G	F9	NM_000133.4(F9):c.1048T>G:p.Ser350Ala	coding	Pathogenic
X	139561747	T	A	T139561747A	F9	NM_000133.4(F9):c.1062T>A:p.Ser354Arg	coding	Pathogenic
X	139561753	G	A	G139561753A	F9	NM_000133.4(F9):c.1068G>A:p.Trp356Ter	coding	Pathogenic
X	139561754	G	A	G139561754A	F9	NM_000133.4(F9):c.1069G>A:p.Gly357Arg	coding	Pathogenic/Likely_pathogenic
X	139561823	G	A	G139561823A	F9	NM_000133.4(F9):c.1138G>A:p.Ala380Thr	coding	Pathogenic
X	139561868	T	A	T139561868A	F9	NM_000133.4(F9):c.1183T>A:p.Phe395Ile	coding	Pathogenic
X	139561939	A	G	A139561939G	F9	NM_000133.4(F9):c.1254A>G:p.Glu418=	coding	Benign
X	139562031	G	A	G139562031A	F9	NM_000133.4(F9):c.1346G>A:p.Arg449Gln	coding	Pathogenic
X	139562043	G	A	G139562043A	F9	NM_000133.4(F9):c.1358G>A:p.Trp453Ter	coding	Pathogenic
X	139596585	G	A	G139596585A	MCF2	NM_001171876.2(MCF2):c.2469C>T:p.Asp823=	coding	Benign
X	139785224	A	G	A139785224G	ATP11C	NM_001353812.2(ATP11C):c.1666+2T>C	noncoding	Pathogenic
X	140504308	C	G	C140504308G	SOX3	NM_005634.3(SOX3):c.753G>C:p.Pro251=	coding	Benign/Likely_benign
X	147921821	A	G	A147921821G	FMR1	NM_002024.6(FMR1):c.52-112A>G	noncoding	Benign
X	147922276	T	C	T147922276C	FMR1	NM_002024.6(FMR1):c.104+291T>C	noncoding	Benign
X	147925532	A	C	A147925532C	FMR1	NM_002024.6(FMR1):c.105-8A>C	noncoding	Benign
X	147925702	T	A	T147925702A	FMR1	NM_002024.6(FMR1):c.198+69T>A	noncoding	Benign
X	147929011	G	A	G147929011A	FMR1	NM_002024.6(FMR1):c.419+204G>A	noncoding	Benign
X	147932701	A	G	A147932701G	FMR1	NM_002024.6(FMR1):c.818A>G:p.Lys273Arg	coding	Benign/Likely_benign
X	147933002	T	C	T147933002C	FMR1	NM_002024.6(FMR1):c.880+239T>C	noncoding	Benign
X	147936410	C	T	C147936410T	FMR1	NM_002024.6(FMR1):c.881-94C>T	noncoding	Benign
X	147936754	T	C	T147936754C	FMR1	NM_002024.6(FMR1):c.990+141T>C	noncoding	Benign
X	147937673	G	A	G147937673A	FMR1	NM_002024.6(FMR1):c.1125+73G>A	noncoding	Benign
X	147938255	G	C	G147938255C	FMR1	NM_002024.6(FMR1):c.1188+94G>C	noncoding	Benign
X	147940765	A	G	A147940765G	FMR1	NM_002024.6(FMR1):c.1275+103A>G	noncoding	Benign
X	147943038	A	T	A147943038T	FMR1	NM_002024.6(FMR1):c.1276-93A>T	noncoding	Benign
X	148662030	T	C	T148662030C	AFF2	NM_002025.4(AFF2):c.303T>C:p.Ser101=	coding	Benign
X	148719224	A	G	A148719224G	AFF2	NM_002025.4(AFF2):c.1041+56456A>G	coding	Benign
X	148955525	G	C	G148955525C	AFF2	NM_002025.4(AFF2):c.1558-78G>C	noncoding	Benign
X	148955879	C	G	C148955879G	AFF2	NM_002025.4(AFF2):c.1834C>G:p.His612Asp	coding	Benign/Likely_benign
X	148980847	G	A	G148980847A	AFF2	NM_002025.4(AFF2):c.3623+57G>A	noncoding	Benign
X	148987436	C	T	C148987436T	AFF2	NM_002025.4(AFF2):c.3693C>T:p.Gly1231=	coding	Benign/Likely_benign
X	149482810	A	T	A149482810T	IDS	NM_000202.8(IDS):c.1589T>A:p.Leu530Ter	coding	Pathogenic
X	149482838	C	T	C149482838T	IDS	NM_000202.8(IDS):c.1561G>A:p.Glu521Lys	coding	Pathogenic
X	149482902	A	C	A149482902C	IDS	NM_000202.8(IDS):c.1497T>G:p.Tyr499Ter	coding	Pathogenic/Likely_pathogenic
X	149482929	A	C	A149482929C	IDS	NM_000202.8(IDS):c.1470T>G:p.Tyr490Ter	coding	Pathogenic
X	149483052	C	T	C149483052T	IDS	NM_000202.8(IDS):c.1347G>A:p.Glu449=	coding	Benign
X	149483059	A	T	A149483059T	IDS	NM_000202.8(IDS):c.1340T>A:p.Leu447Ter	coding	Pathogenic
X	149483109	C	T	C149483109T	IDS	NM_000202.8(IDS):c.1290G>A:p.Glu430=	coding	Benign
X	149483165	C	A	C149483165A	IDS	NM_000202.8(IDS):c.1234G>T:p.Gly412Ter	coding	Pathogenic
X	149483231	G	A	G149483231A	IDS	NM_000202.8(IDS):c.1181-13C>T	noncoding	Benign
X	149483233	G	A	G149483233A	IDS	NM_000202.8(IDS):c.1181-15C>T	noncoding	Benign
X	149486741	A	G	A149486741G	IDS	NM_000202.8(IDS):c.1180+184T>C	noncoding	Benign
X	149486760	T	C	T149486760C	IDS	NM_000202.8(IDS):c.1180+165A>G	noncoding	Benign
X	149486947	G	A	G149486947A	IDS	NM_000202.8(IDS):c.1158C>T:p.Ser386=	coding	Benign
X	149486982	C	A	C149486982A	IDS	NM_000202.8(IDS):c.1123G>T:p.Glu375Ter	coding	Pathogenic
X	149486992	C	T	C149486992T	IDS	NM_000202.8(IDS):c.1113G>A:p.Pro371=	coding	Benign
X	149487058	G	T	G149487058T	IDS	NM_000202.8(IDS):c.1047C>A:p.Ser349Arg	coding	Pathogenic
X	149487071	C	G	C149487071G	IDS	NM_000202.8(IDS):c.1034G>C:p.Trp345Ser	coding	Pathogenic
X	149487077	C	T	C149487077T	IDS	NM_000202.8(IDS):c.1028G>A:p.Gly343Glu	coding	Pathogenic
X	149487105	C	G	C149487105G	IDS	NM_000202.8(IDS):c.1007-7G>C	noncoding	Benign
X	149487231	T	C	T149487231C	IDS	NM_000202.8(IDS):c.1007-133A>G	coding	Pathogenic
X	149487460	A	G	A149487460G	IDS	NM_000202.8(IDS):c.1007-362T>C	noncoding	Benign
X	149490312	A	C	A149490312C	LOC106050102;IDS	NM_000202.8(IDS):c.1006+2T>G	noncoding	Pathogenic
X	149490412	G	A	G149490412A	IDS	NM_000202.8(IDS):c.908C>T:p.Ser303Phe	coding	Pathogenic/Likely_pathogenic
X	149490426	C	T	C149490426T	IDS	NM_000202.8(IDS):c.894G>A:p.Gln298=	coding	Benign
X	149490442	T	A	T149490442A	IDS	NM_000202.8(IDS):c.880-2A>T	noncoding	Pathogenic
X	149496357	C	T	C149496357T	IDS	NM_000202.8(IDS):c.868G>A:p.Val290Met	coding	Benign
X	149496396	G	A	G149496396A	IDS	NM_000202.8(IDS):c.829C>T:p.Gln277Ter	coding	Pathogenic
X	149496411	G	A	G149496411A	IDS	NM_000202.8(IDS):c.814C>T:p.Gln272Ter	coding	Pathogenic
X	149496430	G	T	G149496430T	IDS	NM_000202.8(IDS):c.795C>A:p.Asn265Lys	coding	Pathogenic
X	149496517	C	T	C149496517T	IDS	NM_000202.8(IDS):c.709-1G>A	coding	Pathogenic
X	149498123	G	C	G149498123C	IDS	NM_000202.8(IDS):c.692C>G:p.Pro231Arg	coding	Pathogenic/Likely_pathogenic
X	149498225	G	A	G149498225A	IDS	NM_000202.8(IDS):c.590C>T:p.Pro197Leu	coding	Pathogenic
X	149498303	C	T	C149498303T	IDS	NM_000202.8(IDS):c.512G>A:p.Cys171Tyr	coding	Pathogenic
X	149500947	A	C	A149500947C	IDS	NM_000202.8(IDS):c.507+2T>G	noncoding	Pathogenic
X	149500948	C	T	C149500948T	IDS	NM_000202.8(IDS):c.507+1G>A	noncoding	Pathogenic
X	149500998	C	T	C149500998T	IDS	NM_000202.8(IDS):c.458G>A:p.Trp153Ter	coding	Pathogenic
X	149501039	T	C	T149501039C	IDS	NM_000202.8(IDS):c.419-2A>G	noncoding	Pathogenic
X	149502870	T	C	T149502870C	IDS	NM_000202.8(IDS):c.418+442A>G	noncoding	Benign
X	149503300	A	G	A149503300G	IDS	NM_000202.8(IDS):c.418+12T>C	noncoding	Benign/Likely_benign
X	149503310	A	G	A149503310G	IDS	NM_000202.8(IDS):c.418+2T>C	noncoding	Pathogenic
X	149503327	T	C	T149503327C	IDS	NM_000202.8(IDS):c.403A>G:p.Lys135Glu	coding	Pathogenic
X	149503369	G	A	G149503369A	IDS	NM_000202.8(IDS):c.361C>T:p.Gln121Ter	coding	Pathogenic
X	149503394	G	A	G149503394A	IDS	NM_000202.8(IDS):c.336C>T:p.His112=	coding	Benign/Likely_benign
X	149503423	A	C	A149503423C	IDS	NM_000202.8(IDS):c.307T>G:p.Tyr103Asp	coding	Pathogenic
X	149503425	A	G	A149503425G	IDS	NM_000202.8(IDS):c.305T>C:p.Leu102Pro	coding	Pathogenic
X	149503447	T	A	T149503447A	IDS	NM_000202.8(IDS):c.283A>T:p.Arg95Trp	coding	Pathogenic
X	149503498	G	C	G149503498C	IDS	NM_000202.8(IDS):c.241-9C>G	noncoding	Pathogenic
X	149503830	C	T	C149503830T	IDS	NM_000202.8(IDS):c.240+327G>A	noncoding	Benign
X	149504161	G	C	G149504161C	IDS	NM_000202.8(IDS):c.236C>G:p.Ala79Gly	coding	Benign
X	149504174	G	A	G149504174A	IDS	NM_000202.8(IDS):c.223C>T:p.Gln75Ter	coding	Pathogenic
X	149504185	C	T	C149504185T	IDS	NM_000202.8(IDS):c.212G>A:p.Ser71Asn	coding	Pathogenic
X	149504220	C	T	C149504220T	IDS	NM_000202.8(IDS):c.177G>A:p.Val59=	coding	Benign
X	149504235	A	T	A149504235T	IDS	NM_000202.8(IDS):c.162T>A:p.Tyr54Ter	coding	Pathogenic
X	149504261	C	T	C149504261T	IDS	NM_000202.8(IDS):c.136G>A:p.Asp46Asn	coding	Pathogenic
X	149504264	C	G	C149504264G	IDS	NM_000202.8(IDS):c.133G>C:p.Asp45His	coding	Pathogenic/Likely_pathogenic
X	149504295	T	G	T149504295G	IDS	NM_000202.8(IDS):c.104-2A>C	noncoding	Pathogenic
X	149504891	A	C	A149504891C	IDS	NM_000202.8(IDS):c.103+144T>G	noncoding	Benign
X	149505035	C	G	C149505035G	IDS	NM_000202.8(IDS):c.103G>C:p.Asp35His	coding	Pathogenic
X	149505097	C	T	C149505097T	IDS	NM_000202.8(IDS):c.41G>A:p.Gly14Asp	coding	Benign
X	149505111	G	A	G149505111A	IDS	NM_000202.8(IDS):c.27C>T:p.Gly9=	coding	Benign
X	149505125	G	A	G149505125A	IDS	NM_000202.8(IDS):c.13C>T:p.Arg5Trp	coding	Benign
X	149505136	A	G	A149505136G	IDS	NM_000202.8(IDS):c.2T>C:p.Met1Thr	coding	Pathogenic
X	150469782	A	G	A150469782G	MAMLD1	NM_005491.5(MAMLD1):c.209A>G:p.Gln70Arg	coding	Benign
X	150470648	C	T	C150470648T	MAMLD1	NM_005491.5(MAMLD1):c.1075C>T:p.Pro359Ser	coding	Benign
X	150470864	C	T	C150470864T	MAMLD1	NM_005491.5(MAMLD1):c.1291C>T:p.Leu431Phe	coding	Benign
X	150471014	C	T	C150471014T	MAMLD1	NM_005491.5(MAMLD1):c.1441C>T:p.Arg481Ter	coding	Pathogenic
X	150471272	C	T	C150471272T	MAMLD1	NM_005491.5(MAMLD1):c.1699C>T:p.Pro567Ser	coding	Benign
X	150471377	C	A	C150471377A	MAMLD1	NM_005491.5(MAMLD1):c.1804C>A:p.Gln602Lys	coding	Pathogenic
X	150473747	A	G	A150473747G	MAMLD1	NM_005491.5(MAMLD1):c.1985A>G:p.Asn662Ser	coding	Benign
X	150503390	C	G	C150503390G	MAMLD1	NM_005491.5(MAMLD1):c.2157C>G:p.Ser719=	coding	Benign
X	150512440	G	A	G150512440A	MAMLD1	NM_005491.5(MAMLD1):c.*481G>A	coding	Benign
X	150592277	A	G	A150592277G	MTM1	NM_000252.3(MTM1):c.-10-328A>G	noncoding	Benign
X	150596448	A	T	A150596448T	MTM1	NM_000252.3(MTM1):c.64-50A>T	noncoding	Benign
X	150596520	G	A	G150596520A	MTM1	NM_000252.3(MTM1):c.86G>A:p.Arg29Gln	coding	Benign
X	150598608	C	A	C150598608A	MTM1	NM_000252.3(MTM1):c.153C>A:p.Tyr51Ter	coding	Pathogenic
X	150598652	C	T	C150598652T	MTM1	NM_000252.3(MTM1):c.197C>T:p.Thr66Ile	coding	Pathogenic
X	150614561	C	T	C150614561T	MTM1	NM_000252.3(MTM1):c.232-28C>T	noncoding	Benign
X	150614615	T	C	T150614615C	MTM1	NM_000252.3(MTM1):c.258T>C:p.Pro86=	coding	Benign
X	150614654	G	A	G150614654A	MTM1	NM_000252.3(MTM1):c.297G>A:p.Ala99=	coding	Benign
X	150614667	G	T	G150614667T	MTM1	NM_000252.3(MTM1):c.310G>T:p.Glu104Ter	coding	Pathogenic
X	150614696	T	A	T150614696A	MTM1	NM_000252.3(MTM1):c.339T>A:p.Cys113Ter	coding	Pathogenic
X	150638944	C	G	C150638944G	MTM1	NM_000252.3(MTM1):c.446C>G:p.Pro149Arg	coding	Benign
X	150639006	G	C	G150639006C	MTM1	NM_000252.3(MTM1):c.508G>C:p.Val170Leu	coding	Benign
X	150641279	A	G	A150641279G	MTM1	NM_000252.3(MTM1):c.539A>G:p.Asn180Ser	coding	Benign
X	150641288	G	A	G150641288A	MTM1	NM_000252.3(MTM1):c.548G>A:p.Trp183Ter	coding	Pathogenic
X	150641330	C	T	C150641330T	MTM1	NM_000252.3(MTM1):c.590C>T:p.Thr197Ile	coding	Pathogenic
X	150645714	C	T	C150645714T	MTM1	NM_000252.3(MTM1):c.710C>T:p.Thr237Met	coding	Benign
X	150645745	C	T	C150645745T	MTM1	NM_000252.3(MTM1):c.741C>T:p.Val247=	coding	Benign
X	150645759	A	G	A150645759G	MTM1	NM_000252.3(MTM1):c.755A>G:p.Lys252Arg	coding	Benign
X	150645884	A	C	A150645884C	MTM1	NM_000252.3(MTM1):c.867+13A>C	noncoding	Benign/Likely_benign
X	150645888	A	G	A150645888G	MTM1	NM_000252.3(MTM1):c.867+17A>G	noncoding	Benign/Likely_benign
X	150649707	G	T	G150649707T	MTM1	NM_000252.3(MTM1):c.868-9G>T	noncoding	Benign
X	150649847	A	G	A150649847G	MTM1	NM_000252.3(MTM1):c.999A>G:p.Glu333=	coding	Benign
X	150649924	T	C	T150649924C	MTM1	NM_000252.3(MTM1):c.1053+23T>C	noncoding	Benign
X	150657847	A	G	A150657847G	MTM1	NM_000252.3(MTM1):c.1080A>G:p.Val360=	coding	Benign
X	150657876	C	G	C150657876G	MTM1	NM_000252.3(MTM1):c.1109C>G:p.Ser370Ter	coding	Pathogenic
X	150657955	C	T	C150657955T	MTM1	NM_000252.3(MTM1):c.1188C>T:p.Phe396=	coding	Benign
X	150657963	G	A	G150657963A	MTM1	NM_000252.3(MTM1):c.1196G>A:p.Ser399Asn	coding	Benign
X	150657976	C	T	C150657976T	MTM1	NM_000252.3(MTM1):c.1209C>T:p.Phe403=	coding	Benign
X	150657995	G	T	G150657995T	MTM1	NM_000252.3(MTM1):c.1228G>T:p.Glu410Ter	coding	Pathogenic
X	150659658	A	G	A150659658G	MTM1	NM_000252.3(MTM1):c.1261-6A>G	noncoding	Benign
X	150660464	G	T	G150660464T	MTM1	NM_000252.3(MTM1):c.1447G>T:p.Glu483Ter	coding	Pathogenic
X	150660472	T	C	T150660472C	MTM1	NM_000252.3(MTM1):c.1455T>C:p.Ala485=	coding	Benign
X	150660476	G	T	G150660476T	MTM1	NM_000252.3(MTM1):c.1459G>T:p.Glu487Ter	coding	Pathogenic
X	150663511	A	T	A150663511T	MTM1	NM_000252.3(MTM1):c.1546A>T:p.Lys516Ter	coding	Pathogenic
X	150671420	C	T	C150671420T	MTM1	NM_000252.3(MTM1):c.1645-8C>T	noncoding	Benign
X	150671478	C	T	C150671478T	MTM1	NM_000252.3(MTM1):c.1695C>T:p.Asp565=	coding	Benign
X	150693741	A	C	A150693741C	MTMR1	NM_001306144.3(MTMR1):c.146+65A>C	noncoding	Benign
X	150718584	C	T	C150718584T	MTMR1	NM_001306144.3(MTMR1):c.277-41C>T	noncoding	Benign
X	150718858	C	T	C150718858T	MTMR1	NM_001306144.3(MTMR1):c.352+158C>T	noncoding	Benign
X	150727547	G	A	G150727547A	MTMR1	NM_001306144.3(MTMR1):c.448-137G>A	noncoding	Benign
X	150731781	A	G	A150731781G	MTMR1	NM_001306144.3(MTMR1):c.891+162A>G	noncoding	Benign
X	150731903	T	G	T150731903G	MTMR1	NM_001306144.3(MTMR1):c.891+284T>G	noncoding	Benign
X	150736290	A	G	A150736290G	MTMR1	NM_001306144.3(MTMR1):c.1081-305A>G	noncoding	Benign
X	150744712	A	G	A150744712G	MTMR1	NM_001306144.3(MTMR1):c.1566+259A>G	noncoding	Benign
X	150762633	C	T	C150762633T	MTMR1	NM_001306144.3(MTMR1):c.1926C>T:p.Gly642=	coding	Benign
X	151396858	G	C	G151396858C	VMA21	NM_001363810.1(VMA21):c.19G>C:p.Gly7Arg	noncoding	Benign
X	151397088	G	T	G151397088T	VMA21	NM_001363810.1(VMA21):c.218+31G>T	noncoding	Benign
X	151397451	T	A	T151397451A	VMA21	NM_001017980.4(VMA21):c.53+90T>A	noncoding	Benign
X	151403653	A	G	A151403653G	VMA21	NM_001017980.4(VMA21):c.76A>G:p.Thr26Ala	coding	Benign
X	151403679	A	G	A151403679G	VMA21	NM_001017980.4(VMA21):c.102A>G:p.Thr34=	coding	Benign
X	151403754	C	T	C151403754T	VMA21	NM_001017980.4(VMA21):c.163+14C>T	noncoding	Benign
X	151403756	T	G	T151403756G	VMA21	NM_001017980.4(VMA21):c.163+16T>G	noncoding	Benign
X	151404897	G	T	G151404897T	VMA21	NM_001017980.4(VMA21):c.164-19G>T	noncoding	Benign
X	151405004	G	A	G151405004A	VMA21	NM_001017980.4(VMA21):c.252G>A:p.Val84=	coding	Benign
X	151405007	T	C	T151405007C	VMA21	NM_001017980.4(VMA21):c.255T>C:p.Tyr85=	coding	Benign
X	151962601	C	A	C151962601A	GABRE	NM_004961.4(GABRE):c.385G>T:p.Glu129Ter	coding	Pathogenic
X	151969707	A	C	A151969707C	GABRE	NM_004961.4(GABRE):c.304T>G:p.Ser102Ala	coding	Benign
X	151970395	C	A	C151970395A	GABRE	NM_004961.4(GABRE):c.64G>T:p.Gly22Ter	coding	Pathogenic
X	152208054	T	A	T152208054A	GABRA3	NM_000808.4(GABRA3):c.725A>T:p.Gln242Leu	coding	Pathogenic
X	152255832	G	A	G152255832A	GABRA3	NM_000808.4(GABRA3):c.497C>T:p.Thr166Met	coding	Pathogenic
X	152451236	T	G	T152451236G	GABRA3	NM_000808.4(GABRA3):c.-117A>C	noncoding	Benign
X	152846040	C	T	C152846040T	NSDHL	NM_015922.3(NSDHL):c.-43-242C>T	noncoding	Benign
X	152846366	A	G	A152846366G	NSDHL	NM_015922.3(NSDHL):c.42A>G:p.Ala14=	coding	Benign
X	152850003	A	G	A152850003G	NSDHL	NM_015922.3(NSDHL):c.109-262A>G	noncoding	Benign
X	152850364	C	T	C152850364T	NSDHL	NM_015922.3(NSDHL):c.208C>T:p.Gln70Ter	coding	Pathogenic
X	152858451	G	A	G152858451A	NSDHL	NM_015922.3(NSDHL):c.268-319G>A	noncoding	Benign
X	152865622	G	T	G152865622T	NSDHL	NM_015922.3(NSDHL):c.544-197G>T	noncoding	Benign
X	152865867	A	C	A152865867C	NSDHL	NM_015922.3(NSDHL):c.592A>C:p.Ile198Leu	coding	Benign
X	152865887	C	T	C152865887T	NSDHL	NM_015922.3(NSDHL):c.612C>T:p.Phe204=	coding	Benign
X	152867231	A	G	A152867231G	NSDHL	NM_015922.3(NSDHL):c.687-340A>G	noncoding	Benign
X	152867619	T	C	T152867619C	NSDHL	NM_015922.3(NSDHL):c.735T>C:p.His245=	coding	Benign
X	152867690	C	T	C152867690T	NSDHL	NM_015922.3(NSDHL):c.789+17C>T	noncoding	Benign
X	152867882	C	T	C152867882T	NSDHL	NM_015922.3(NSDHL):c.789+209C>T	noncoding	Benign
X	152867908	G	C	G152867908C	NSDHL	NM_015922.3(NSDHL):c.789+235G>C	noncoding	Benign
X	153504296	A	G	A153504296G	BGN	NM_001711.6(BGN):c.-11-325A>G	noncoding	Benign
X	153504412	G	A	G153504412A	BGN	NM_001711.6(BGN):c.-11-209G>A	noncoding	Benign
X	153504772	G	A	G153504772A	BGN	NM_001711.6(BGN):c.141G>A:p.Ser47=	coding	Benign
X	153504920	G	A	G153504920A	BGN	NM_001711.6(BGN):c.238+51G>A	noncoding	Benign
X	153504944	A	G	A153504944G	BGN	NM_001711.6(BGN):c.238+75A>G	noncoding	Benign
X	153505004	G	A	G153505004A	BGN	NM_001711.6(BGN):c.238+135G>A	noncoding	Benign
X	153505200	T	C	T153505200C	BGN	NM_001711.6(BGN):c.239-38T>C	noncoding	Benign
X	153505256	A	G	A153505256G	BGN	NM_001711.6(BGN):c.257A>G:p.Lys86Arg	coding	Benign
X	153505309	G	A	G153505309A	BGN	NM_001711.6(BGN):c.310G>A:p.Glu104Lys	coding	Benign/Likely_benign
X	153505665	T	G	T153505665G	BGN	NM_001711.6(BGN):c.352-198T>G	noncoding	Benign
X	153505924	G	A	G153505924A	BGN	NM_001711.6(BGN):c.413G>A:p.Arg138Gln	coding	Benign/Likely_benign
X	153506051	C	T	C153506051T	BGN	NM_001711.6(BGN):c.540C>T:p.Ser180=	coding	Benign
X	153506075	C	T	C153506075T	BGN	NM_001711.6(BGN):c.564C>T:p.Ile188=	coding	Benign
X	153507015	C	T	C153507015T	BGN	NM_001711.6(BGN):c.771-32C>T	noncoding	Benign
X	153507300	T	C	T153507300C	BGN	NM_001711.6(BGN):c.909+115T>C	noncoding	Benign
X	153507355	G	T	G153507355T	BGN	NM_001711.6(BGN):c.909+170G>T	noncoding	Benign
X	153507448	A	G	A153507448G	BGN	NM_001711.6(BGN):c.909+263A>G	noncoding	Benign
X	153507504	C	A	C153507504A	BGN	NM_001711.6(BGN):c.909+319C>A	noncoding	Benign
X	153508157	G	T	G153508157T	BGN	NM_001711.6(BGN):c.910-91G>T	noncoding	Benign
X	153508230	C	T	C153508230T	BGN	NM_001711.6(BGN):c.910-18C>T	noncoding	Benign
X	153508340	C	T	C153508340T	BGN	NM_001711.6(BGN):c.1002C>T:p.Gly334=	coding	Benign/Likely_benign
X	153508573	G	A	G153508573A	BGN	NM_001711.6(BGN):c.*128G>A	noncoding	Benign
X	153508696	A	T	A153508696T	BGN	NM_001711.6(BGN):c.*251A>T	noncoding	Benign
X	153541967	G	A	G153541967A	ATP2B3	NM_001001344.3(ATP2B3):c.664+41G>A	noncoding	Benign
X	153542207	A	G	A153542207G	ATP2B3	NM_001001344.3(ATP2B3):c.665-116A>G	noncoding	Benign
X	153552977	G	A	G153552977A	ATP2B3	NM_001001344.3(ATP2B3):c.1824-58G>A	noncoding	Benign
X	153559975	A	G	A153559975G	ATP2B3	NM_001001344.3(ATP2B3):c.2839+33A>G	noncoding	Benign
X	153564864	A	G	A153564864G	ATP2B3	NM_001001344.3(ATP2B3):c.3160-57A>G	noncoding	Benign
X	153592235	G	A	G153592235A	CCNQ	NM_152274.5(CCNQ):c.657+271C>T	noncoding	Benign
X	153592362	G	A	G153592362A	CCNQ	NM_152274.5(CCNQ):c.657+144C>T	noncoding	Benign
X	153592581	C	T	C153592581T	CCNQ	NM_152274.5(CCNQ):c.582G>A:p.Ala194=	coding	Benign
X	153594376	G	A	G153594376A	CCNQ	NM_152274.5(CCNQ):c.429+171C>T	noncoding	Benign
X	153594529	C	G	C153594529G	CCNQ	NM_152274.5(CCNQ):c.429+18G>C	noncoding	Benign
X	153594628	T	C	T153594628C	CCNQ	NM_152274.5(CCNQ):c.348A>G:p.Glu116=	coding	Benign/Likely_benign
X	153594999	T	C	T153594999C	CCNQ	NM_152274.5(CCNQ):c.297-320A>G	noncoding	Benign
X	153595932	G	A	G153595932A	CCNQ	NM_152274.5(CCNQ):c.296+72C>T	noncoding	Benign
X	153596272	A	G	A153596272G	CCNQ	NM_152274.5(CCNQ):c.113-85T>C	noncoding	Benign
X	153596411	T	C	T153596411C	CCNQ	NM_152274.5(CCNQ):c.113-224A>G	noncoding	Benign
X	153672995	G	A	G153672995A	PNCK	NM_001366977.1(PNCK):c.68+14C>T	noncoding	Benign
X	153688645	C	T	C153688645T	SLC6A8	NM_005629.4(SLC6A8):c.71C>T:p.Ala24Val	coding	Benign
X	153688823	C	A	C153688823A	SLC6A8	NM_005629.4(SLC6A8):c.249C>A:p.Tyr83Ter	coding	Pathogenic
X	153690418	A	G	A153690418G	SLC6A8	NM_005629.4(SLC6A8):c.306A>G:p.Gly102=	coding	Benign
X	153690594	G	A	G153690594A	SLC6A8	NM_005629.4(SLC6A8):c.394+88G>A	noncoding	Benign
X	153691300	C	T	C153691300T	SLC6A8	NM_005629.4(SLC6A8):c.395-4C>T	noncoding	Benign
X	153691453	G	A	G153691453A	SLC6A8	NM_005629.4(SLC6A8):c.544G>A:p.Val182Met	coding	Benign
X	153691528	C	T	C153691528T	SLC6A8	NM_005629.4(SLC6A8):c.619C>T:p.Arg207Trp	coding	Pathogenic
X	153691573	G	A	G153691573A	SLC6A8	NM_005629.4(SLC6A8):c.644+20G>A	noncoding	Benign/Likely_benign
X	153691961	C	T	C153691961T	SLC6A8	NM_005629.4(SLC6A8):c.645-14C>T	noncoding	Benign
X	153692008	G	A	G153692008A	SLC6A8	NM_005629.4(SLC6A8):c.678G>A:p.Glu226=	coding	Benign
X	153693089	C	T	C153693089T	SLC6A8	NM_005629.4(SLC6A8):c.826C>T:p.Leu276=	coding	Benign
X	153693094	G	A	G153693094A	SLC6A8	NM_005629.4(SLC6A8):c.831G>A:p.Val277=	coding	Benign
X	153693115	C	T	C153693115T	SLC6A8	NM_005629.4(SLC6A8):c.852C>T:p.Gly284=	coding	Benign
X	153693119	C	T	C153693119T	SLC6A8	NM_005629.4(SLC6A8):c.856C>T:p.Leu286=	coding	Benign/Likely_benign
X	153693194	G	A	G153693194A	SLC6A8	NM_005629.4(SLC6A8):c.912+19G>A	noncoding	Benign/Likely_benign
X	153693244	C	T	C153693244T	SLC6A8	NM_005629.4(SLC6A8):c.913-19C>T	noncoding	Benign
X	153693249	C	T	C153693249T	SLC6A8	NM_005629.4(SLC6A8):c.913-14C>T	noncoding	Benign
X	153693378	C	T	C153693378T	SLC6A8	NM_005629.4(SLC6A8):c.1016+12C>T	noncoding	Benign/Likely_benign
X	153693457	C	T	C153693457T	SLC6A8	NM_005629.4(SLC6A8):c.1017-5C>T	noncoding	Benign
X	153693492	T	C	T153693492C	SLC6A8	NM_005629.4(SLC6A8):c.1047T>C:p.Ser349=	coding	Benign
X	153693500	G	A	G153693500A	SLC6A8	NM_005629.4(SLC6A8):c.1055G>A:p.Ser352Asn	coding	Pathogenic
X	153693516	C	T	C153693516T	SLC6A8	NM_005629.4(SLC6A8):c.1071C>T:p.Phe357=	coding	Benign/Likely_benign
X	153693525	C	T	C153693525T	SLC6A8	NM_005629.4(SLC6A8):c.1080C>T:p.Phe360=	coding	Benign
X	153693553	C	T	C153693553T	SLC6A8	NM_005629.4(SLC6A8):c.1108C>T:p.Gln370Ter	coding	Pathogenic
X	153693886	G	A	G153693886A	SLC6A8	NM_005629.4(SLC6A8):c.1142-19G>A	noncoding	Benign
X	153693932	C	T	C153693932T	SLC6A8	NM_005629.4(SLC6A8):c.1169C>T:p.Pro390Leu	coding	Pathogenic
X	153694168	C	T	C153694168T	SLC6A8	NM_005629.4(SLC6A8):c.1293C>T:p.Asp431=	coding	Benign
X	153694205	G	T	G153694205T	SLC6A8	NM_005629.4(SLC6A8):c.1330G>T:p.Glu444Ter	coding	Pathogenic
X	153694279	G	T	G153694279T	SLC6A8	NM_005629.4(SLC6A8):c.1392+12G>T	noncoding	Benign
X	153694284	G	A	G153694284A	SLC6A8	NM_005629.4(SLC6A8):c.1392+17G>A	noncoding	Benign
X	153694349	G	A	G153694349A	SLC6A8	NM_005629.4(SLC6A8):c.1398G>A:p.Gly466=	coding	Benign
X	153694355	C	T	C153694355T	SLC6A8	NM_005629.4(SLC6A8):c.1404C>T:p.Tyr468=	coding	Benign/Likely_benign
X	153694425	G	A	G153694425A	SLC6A8	NM_005629.4(SLC6A8):c.1474G>A:p.Val492Met	coding	Benign
X	153694516	G	A	G153694516A	SLC6A8	NM_005629.4(SLC6A8):c.1496-17G>A	noncoding	Benign/Likely_benign
X	153694534	A	G	A153694534G	SLC6A8	NM_005629.4(SLC6A8):c.1497A>G:p.Gly499=	coding	Benign/Likely_benign
X	153694543	C	T	C153694543T	SLC6A8	NM_005629.4(SLC6A8):c.1506C>T:p.Arg502=	coding	Benign/Likely_benign
X	153694578	G	A	G153694578A	SLC6A8	NM_005629.4(SLC6A8):c.1541G>A:p.Arg514Gln	coding	Benign
X	153694644	G	A	G153694644A	SLC6A8	NM_005629.4(SLC6A8):c.1596+11G>A	noncoding	Benign
X	153694699	C	T	C153694699T	SLC6A8	NM_005629.4(SLC6A8):c.1597-20C>T	noncoding	Benign/Likely_benign
X	153694700	G	A	G153694700A	SLC6A8	NM_005629.4(SLC6A8):c.1597-19G>A	noncoding	Benign/Likely_benign
X	153694737	G	A	G153694737A	SLC6A8	NM_005629.4(SLC6A8):c.1615G>A:p.Val539Ile	coding	Benign
X	153694742	G	A	G153694742A	SLC6A8	NM_005629.4(SLC6A8):c.1620G>A:p.Val540=	coding	Benign
X	153694749	G	C	G153694749C	SLC6A8	NM_005629.4(SLC6A8):c.1627G>C:p.Glu543Gln	coding	Benign
X	153694754	G	A	G153694754A	SLC6A8	NM_005629.4(SLC6A8):c.1632G>A:p.Pro544=	coding	Benign/Likely_benign
X	153694758	G	A	G153694758A	SLC6A8	NM_005629.4(SLC6A8):c.1636G>A:p.Val546Ile	coding	Benign
X	153694802	G	A	G153694802A	SLC6A8	NM_005629.4(SLC6A8):c.1680G>A:p.Met560Ile	coding	Benign
X	153694900	C	T	C153694900T	SLC6A8	NM_005629.4(SLC6A8):c.1767+11C>T	noncoding	Benign/Likely_benign
X	153694904	C	T	C153694904T	SLC6A8	NM_005629.4(SLC6A8):c.1767+15C>T	noncoding	Benign/Likely_benign
X	153694908	C	G	C153694908G	SLC6A8	NM_005629.4(SLC6A8):c.1767+19C>G	noncoding	Benign
X	153695133	G	A	G153695133A	SLC6A8	NM_005629.4(SLC6A8):c.1827G>A:p.Gln609=	coding	Benign
X	153695176	G	A	G153695176A	SLC6A8	NM_005629.4(SLC6A8):c.1870G>A:p.Glu624Lys	coding	Benign/Likely_benign
X	153703142	T	A	T153703142A	BCAP31	NM_001256447.2(BCAP31):c.478-84A>T	noncoding	Benign
X	153703383	C	T	C153703383T	BCAP31	NM_001256447.2(BCAP31):c.478-325G>A	noncoding	Benign
X	153703710	A	G	A153703710G	BCAP31	NM_001256447.2(BCAP31):c.477+249T>C	noncoding	Benign
X	153703927	C	T	C153703927T	BCAP31	NM_001256447.2(BCAP31):c.477+32G>A	noncoding	Benign
X	153703930	C	G	C153703930G	BCAP31	NM_001256447.2(BCAP31):c.477+29G>C	noncoding	Benign
X	153704225	T	C	T153704225C	BCAP31	NM_001256447.2(BCAP31):c.342-131A>G	noncoding	Benign
X	153715833	T	C	T153715833C	BCAP31	NM_001256447.2(BCAP31):c.194-144A>G	noncoding	Benign
X	153723109	G	A	G153723109A	BCAP31	NM_001256447.2(BCAP31):c.92+44C>T	noncoding	Benign
X	153723443	T	G	T153723443G	BCAP31	NM_001256447.2(BCAP31):c.-44-155A>C	noncoding	Benign
X	153724015	C	A	C153724015A	BCAP31	NM_001256447.2(BCAP31):c.-45+319G>T	noncoding	Benign
X	153724375	A	C	A153724375C	BCAP31	NM_001256447.2(BCAP31):c.-86T>G	noncoding	Benign
X	153724433	C	T	C153724433T	BCAP31	Single_allele	noncoding	Benign
X	153724534	G	C	G153724534C	BCAP31	Single_allele	noncoding	Benign
X	153725295	G	A	G153725295A	ABCD1	NM_000033.4(ABCD1):c.29G>A:p.Trp10Ter	coding	Pathogenic
X	153725356	C	T	C153725356T	ABCD1	NM_000033.4(ABCD1):c.90C>T:p.His30=	coding	Benign
X	153725420	G	T	G153725420T	ABCD1	NM_000033.4(ABCD1):c.154G>T:p.Glu52Ter	coding	Pathogenic
X	153725491	C	T	C153725491T	ABCD1	NM_000033.4(ABCD1):c.225C>T:p.Leu75=	coding	Benign
X	153725534	G	T	G153725534T	ABCD1	NM_000033.4(ABCD1):c.268G>T:p.Glu90Ter	coding	Pathogenic
X	153725576	C	T	C153725576T	ABCD1	NM_000033.4(ABCD1):c.310C>T:p.Arg104Cys	coding	Pathogenic
X	153725589	C	T	C153725589T	ABCD1	NM_000033.4(ABCD1):c.323C>T:p.Ser108Leu	coding	Pathogenic
X	153725603	C	T	C153725603T	ABCD1	NM_000033.4(ABCD1):c.337C>T:p.Arg113Cys	coding	Pathogenic
X	153725661	G	A	G153725661A	ABCD1	NM_000033.4(ABCD1):c.395G>A:p.Trp132Ter	coding	Pathogenic
X	153725748	C	A	C153725748A	ABCD1	NM_000033.4(ABCD1):c.482C>A:p.Ser161Ter	coding	Pathogenic
X	153725788	C	G	C153725788G	ABCD1	NM_000033.4(ABCD1):c.522C>G:p.Tyr174Ter	coding	Pathogenic
X	153725849	C	T	C153725849T	ABCD1	NM_000033.4(ABCD1):c.583C>T:p.Gln195Ter	coding	Pathogenic
X	153725866	C	T	C153725866T	ABCD1	NM_000033.4(ABCD1):c.600C>T:p.Asp200=	coding	Benign
X	153725880	C	A	C153725880A	ABCD1	NM_000033.4(ABCD1):c.614C>A:p.Ala205Glu	coding	Pathogenic/Likely_pathogenic
X	153725898	T	G	T153725898G	ABCD1	NM_000033.4(ABCD1):c.632T>G:p.Leu211Arg	coding	Pathogenic
X	153725995	C	G	C153725995G	ABCD1	NM_000033.4(ABCD1):c.729C>G:p.Pro243=	coding	Benign
X	153726026	A	G	A153726026G	ABCD1	NM_000033.4(ABCD1):c.760A>G:p.Thr254Ala	coding	Pathogenic
X	153726051	C	G	C153726051G	ABCD1	NM_000033.4(ABCD1):c.785C>G:p.Ser262Trp	coding	Pathogenic/Likely_pathogenic
X	153726114	A	G	A153726114G	ABCD1	NM_000033.4(ABCD1):c.848A>G:p.His283Arg	coding	Pathogenic
X	153726117	C	A	C153726117A	ABCD1	NM_000033.4(ABCD1):c.851C>A:p.Ser284Ter	coding	Pathogenic
X	153726142	G	C	G153726142C	ABCD1	NM_000033.4(ABCD1):c.876G>C:p.Glu292Asp	coding	Pathogenic
X	153726166	G	A	G153726166A	ABCD1	NM_000033.4(ABCD1):c.900G>A:p.Glu300=	coding	Pathogenic
X	153726303	C	G	C153726303G	ABCD1	NM_000033.4(ABCD1):c.900+137C>G	noncoding	Benign
X	153729228	G	A	G153729228A	ABCD1	NM_000033.4(ABCD1):c.901-4G>A	noncoding	Benign
X	153729230	A	G	A153729230G	ABCD1	NM_000033.4(ABCD1):c.901-2A>G	noncoding	Pathogenic
X	153729231	G	A	G153729231A	ABCD1	NM_000033.4(ABCD1):c.901-1G>A	noncoding	Pathogenic
X	153729296	T	C	T153729296C	ABCD1	NM_000033.4(ABCD1):c.965T>C:p.Leu322Pro	coding	Pathogenic
X	153729399	C	T	C153729399T	ABCD1	NM_000033.4(ABCD1):c.1068C>T:p.Gly356=	coding	Benign
X	153729404	C	G	C153729404G	ABCD1	NM_000033.4(ABCD1):c.1073C>G:p.Ser358Ter	coding	Pathogenic
X	153736093	C	G	C153736093G	ABCD1	NM_000033.4(ABCD1):c.1082-19C>G	noncoding	Benign
X	153736155	G	A	G153736155A	ABCD1	NM_000033.4(ABCD1):c.1125G>A:p.Glu375=	coding	Benign
X	153736168	G	T	G153736168T	ABCD1	NM_000033.4(ABCD1):c.1138G>T:p.Glu380Ter	coding	Pathogenic
X	153736182	C	T	C153736182T	ABCD1	NM_000033.4(ABCD1):c.1152C>T:p.Ala384=	coding	Benign
X	153736195	C	G	C153736195G	ABCD1	NM_000033.4(ABCD1):c.1165C>G:p.Arg389Gly	coding	Pathogenic
X	153736212	G	A	G153736212A	ABCD1	NM_000033.4(ABCD1):c.1182G>A:p.Ala394=	coding	Benign
X	153736231	C	A	C153736231A	ABCD1	NM_000033.4(ABCD1):c.1201C>A:p.Arg401=	coding	Benign
X	153736245	G	A	G153736245A	ABCD1	NM_000033.4(ABCD1):c.1215G>A:p.Ser405=	coding	Benign/Likely_benign
X	153736254	G	A	G153736254A	ABCD1	NM_000033.4(ABCD1):c.1224G>A:p.Glu408=	coding	Pathogenic
X	153736446	C	T	C153736446T	ABCD1	NM_000033.4(ABCD1):c.1326C>T:p.Asp442=	coding	Benign
X	153736487	G	A	G153736487A	ABCD1	NM_000033.4(ABCD1):c.1367G>A:p.Arg456His	coding	Benign
X	153736510	C	T	C153736510T	ABCD1	NM_000033.4(ABCD1):c.1390C>T:p.Arg464Ter	coding	Pathogenic/Likely_pathogenic
X	153736511	G	A	G153736511A	ABCD1	NM_000033.4(ABCD1):c.1391G>A:p.Arg464Gln	coding	Benign
X	153736531	C	G	C153736531G	ABCD1	NM_000033.4(ABCD1):c.1393+18C>G	noncoding	Benign
X	153737206	C	T	C153737206T	ABCD1	NM_000033.4(ABCD1):c.1443C>T:p.Ile481=	coding	Benign
X	153737219	G	A	G153737219A	ABCD1	NM_000033.4(ABCD1):c.1456G>A:p.Gly486Arg	coding	Benign
X	153737385	C	T	C153737385T	ABCD1	NM_000033.4(ABCD1):c.1488+134C>T	noncoding	Benign
X	153740079	G	T	G153740079T	ABCD1	NM_000033.4(ABCD1):c.1489-13G>T	noncoding	Benign
X	153740200	A	C	A153740200C	ABCD1	NM_000033.4(ABCD1):c.1597A>C:p.Lys533Gln	coding	Pathogenic/Likely_pathogenic
X	153740249	C	T	C153740249T	ABCD1	NM_000033.4(ABCD1):c.1634+12C>T	noncoding	Benign
X	153740449	C	T	C153740449T	ABCD1	NM_000033.4(ABCD1):c.1635-125C>T	noncoding	Benign
X	153740616	C	A	C153740616A	ABCD1	NM_000033.4(ABCD1):c.1677C>A:p.Tyr559Ter	coding	Pathogenic
X	153740659	C	T	C153740659T	ABCD1	NM_000033.4(ABCD1):c.1720C>T:p.Gln574Ter	coding	Pathogenic
X	153740719	G	C	G153740719C	ABCD1	NM_000033.4(ABCD1):c.1780G>C:p.Gly594Arg	coding	Pathogenic
X	153741041	A	C	A153741041C	ABCD1	NM_000033.4(ABCD1):c.1780+322A>C	noncoding	Benign
X	153742881	G	T	G153742881T	ABCD1	NM_000033.4(ABCD1):c.1781-106G>T	noncoding	Benign
X	153742928	G	A	G153742928A	ABCD1	NM_000033.4(ABCD1):c.1781-59G>A	noncoding	Benign
X	153742991	G	A	G153742991A	ABCD1	NM_000033.4(ABCD1):c.1785G>A:p.Trp595Ter	coding	Pathogenic
X	153743087	C	T	C153743087T	ABCD1	NM_000033.4(ABCD1):c.1865+16C>T	noncoding	Benign
X	153743254	C	T	C153743254T	ABCD1	NM_000033.4(ABCD1):c.1899C>T:p.Ser633=	coding	Benign/Likely_benign
X	153743334	G	A	G153743334A	ABCD1	NM_000033.4(ABCD1):c.1979G>A:p.Arg660Gln	coding	Pathogenic/Likely_pathogenic
X	153743346	G	A	G153743346A	ABCD1	NM_000033.4(ABCD1):c.1991G>A:p.Trp664Ter	coding	Pathogenic
X	153743496	C	G	C153743496G	ABCD1	NM_000033.4(ABCD1):c.1999C>G:p.His667Asp	coding	Pathogenic
X	153743511	C	T	C153743511T	ABCD1	NM_000033.4(ABCD1):c.2014C>T:p.Gln672Ter	coding	Pathogenic
X	153775677	C	T	C153775677T	PLXNB3	NM_005393.3(PLXNB3):c.4401+17C>T	noncoding	Benign
X	153776964	G	A	G153776964A	PLXNB3	NM_005393.3(PLXNB3):c.4911G>A:p.Arg1637=	coding	Benign
X	153783890	G	A	G153783890A	SRPK3	NM_014370.4(SRPK3):c.907+6G>A	noncoding	Benign
X	153783899	A	G	A153783899G	SRPK3	NM_014370.4(SRPK3):c.907+15A>G	noncoding	Benign
X	153794101	G	A	G153794101A	SSR4	NM_004135.4(IDH3G):c.81+145C>T	noncoding	Benign
X	153796101	G	C	G153796101C	SSR4	NM_006280.3(SSR4):c.68-333G>C	noncoding	Benign
X	153796320	A	G	A153796320G	SSR4	NM_006280.3(SSR4):c.68-114A>G	noncoding	Benign
X	153796550	C	T	C153796550T	SSR4	NM_006280.3(SSR4):c.184C>T:p.Gln62Ter	coding	Pathogenic
X	153797317	T	C	T153797317C	SSR4	NM_006280.3(SSR4):c.187-141T>C	noncoding	Benign
X	153797398	G	A	G153797398A	SSR4	NM_006280.3(SSR4):c.187-60G>A	noncoding	Benign
X	153797732	G	A	G153797732A	SSR4	NM_006280.3(SSR4):c.269G>A:p.Trp90Ter	coding	Pathogenic
X	153798053	C	T	C153798053T	SSR4	NM_006280.3(SSR4):c.352-18C>T	noncoding	Benign
X	153798058	A	G	A153798058G	SSR4	NM_006280.3(SSR4):c.352-13A>G	noncoding	Benign/Likely_benign
X	153798060	C	G	C153798060G	SSR4	NM_006280.3(SSR4):c.352-11C>G	noncoding	Benign
X	153862504	A	G	A153862504G	L1CAM	NM_001278116.2(L1CAM):c.*159T>C	noncoding	Benign
X	153862727	G	A	G153862727A	L1CAM	NM_001278116.2(L1CAM):c.3710C>T:p.Ala1237Val	coding	Benign/Likely_benign
X	153862766	G	A	G153862766A	L1CAM	NM_001278116.2(L1CAM):c.3671C>T:p.Ser1224Leu	coding	Pathogenic
X	153862809	C	T	C153862809T	L1CAM	NM_001278116.2(L1CAM):c.3628G>A:p.Asp1210Asn	coding	Benign
X	153862905	A	G	A153862905G	L1CAM	NM_001278116.2(L1CAM):c.3543-11T>C	noncoding	Benign
X	153862916	G	T	G153862916T	L1CAM	NM_001278116.2(L1CAM):c.3543-22C>A	noncoding	Benign
X	153863354	C	T	C153863354T	L1CAM	NM_001278116.2(L1CAM):c.3542+14G>A	noncoding	Benign/Likely_benign
X	153863355	G	A	G153863355A	L1CAM	NM_001278116.2(L1CAM):c.3542+13C>T	noncoding	Benign
X	153863391	C	T	C153863391T	L1CAM	NM_001278116.2(L1CAM):c.3531-12G>A	noncoding	Pathogenic
X	153863688	C	T	C153863688T	L1CAM	NM_001278116.2(L1CAM):c.3458-139G>A	noncoding	Benign
X	153863767	C	A	C153863767A	L1CAM	NM_001278116.2(L1CAM):c.3457+116G>T	noncoding	Benign
X	153863830	G	A	G153863830A	L1CAM	NM_001278116.2(L1CAM):c.3457+53C>T	noncoding	Benign
X	153863899	C	T	C153863899T	L1CAM	NM_001278116.2(L1CAM):c.3441G>A:p.Lys1147=	coding	Benign
X	153864101	G	A	G153864101A	L1CAM	NM_001278116.2(L1CAM):c.3323-84C>T	noncoding	Benign
X	153864303	C	T	C153864303T	L1CAM	NM_001278116.2(L1CAM):c.3322+19G>A	noncoding	Benign/Likely_benign
X	153864310	C	T	C153864310T	L1CAM	NM_001278116.2(L1CAM):c.3322+12G>A	noncoding	Benign
X	153864315	G	C	G153864315C	L1CAM	NM_001278116.2(L1CAM):c.3322+7C>G	noncoding	Benign
X	153864410	C	T	C153864410T	L1CAM	NM_001278116.2(L1CAM):c.3234G>A:p.Trp1078Ter	coding	Pathogenic
X	153864466	C	T	C153864466T	L1CAM	NM_001278116.2(L1CAM):c.3178G>A:p.Gly1060Arg	coding	Benign
X	153864820	C	T	C153864820T	L1CAM	NM_001278116.2(L1CAM):c.3046+1G>A	noncoding	Pathogenic
X	153864947	C	A	C153864947A	L1CAM	NM_001278116.2(L1CAM):c.2920G>T:p.Glu974Ter	coding	Pathogenic
X	153865087	C	G	C153865087G	L1CAM	NM_001278116.2(L1CAM):c.2872+1G>C	noncoding	Pathogenic
X	153865138	G	A	G153865138A	L1CAM	NM_001278116.2(L1CAM):c.2822C>T:p.Pro941Leu	coding	Pathogenic
X	153865147	C	T	C153865147T	L1CAM	NM_001278116.2(L1CAM):c.2813G>A:p.Trp938Ter	coding	Pathogenic
X	153865197	G	A	G153865197A	L1CAM	NM_001278116.2(L1CAM):c.2763C>T:p.Pro921=	coding	Benign
X	153865281	G	A	G153865281A	L1CAM	NM_001278116.2(L1CAM):c.2749+18C>T	noncoding	Benign
X	153865333	G	A	G153865333A	L1CAM	NM_001278116.2(L1CAM):c.2715C>T:p.Pro905=	coding	Benign
X	153865347	G	A	G153865347A	L1CAM	NM_001278116.2(L1CAM):c.2701C>T:p.Arg901Ter	coding	Pathogenic
X	153865394	A	T	A153865394T	L1CAM	NM_001278116.2(L1CAM):c.2654T>A:p.Leu885Ter	coding	Pathogenic
X	153865465	G	C	G153865465C	L1CAM	NM_001278116.2(L1CAM):c.2583C>G:p.His861Gln	coding	Benign
X	153865495	C	T	C153865495T	L1CAM	NM_001278116.2(L1CAM):c.2553G>A:p.Thr851=	coding	Benign
X	153865715	G	A	G153865715A	L1CAM	NM_001278116.2(L1CAM):c.2536C>T:p.Arg846Cys	coding	Benign
X	153865751	G	A	G153865751A	L1CAM	NM_001278116.2(L1CAM):c.2500C>T:p.Arg834Trp	coding	Benign
X	153865905	C	T	C153865905T	L1CAM	NM_001278116.2(L1CAM):c.2432-86G>A	noncoding	Benign
X	153866502	G	T	G153866502T	L1CAM	NM_001278116.2(L1CAM):c.2431+147C>A	noncoding	Benign
X	153866668	G	A	G153866668A	L1CAM	NM_001278116.2(L1CAM):c.2412C>T:p.Ile804=	coding	Benign/Likely_benign
X	153866770	G	A	G153866770A	L1CAM	NM_001278116.2(L1CAM):c.2310C>T:p.Asp770=	coding	Benign
X	153866784	G	A	G153866784A	L1CAM	NM_001278116.2(L1CAM):c.2296C>T:p.Gln766Ter	coding	Pathogenic
X	153867388	G	A	G153867388A	L1CAM	NM_001278116.2(L1CAM):c.2105C>T:p.Pro702Leu	coding	Benign/Likely_benign
X	153867702	G	A	G153867702A	L1CAM	NM_001278116.2(L1CAM):c.1939+98C>T	noncoding	Benign
X	153867997	C	T	C153867997T	L1CAM	NM_001278116.2(L1CAM):c.1828+1G>A	noncoding	Pathogenic
X	153868288	G	A	G153868288A	L1CAM	NM_001278116.2(L1CAM):c.1703+14C>T	noncoding	Benign
X	153868332	C	T	C153868332T	L1CAM	NM_001278116.2(L1CAM):c.1673G>A:p.Arg558Gln	coding	Benign
X	153868472	G	A	G153868472A	L1CAM	NM_001278116.2(L1CAM):c.1547-14C>T	noncoding	Benign
X	153868476	G	A	G153868476A	L1CAM	NM_001278116.2(L1CAM):c.1547-18C>T	noncoding	Benign/Likely_benign
X	153868829	C	T	C153868829T	L1CAM	NM_001278116.2(L1CAM):c.1379+12G>A	noncoding	Benign
X	153868833	A	G	A153868833G	L1CAM	NM_001278116.2(L1CAM):c.1379+8T>C	noncoding	Benign
X	153868927	C	T	C153868927T	L1CAM	NM_001278116.2(L1CAM):c.1293G>A:p.Ala431=	coding	Benign/Likely_benign
X	153869419	C	T	C153869419T	L1CAM	NM_001278116.2(L1CAM):c.1267+101G>A	noncoding	Benign
X	153869526	C	T	C153869526T	L1CAM	NM_001278116.2(L1CAM):c.1261G>A:p.Val421Ile	coding	Benign
X	153869966	G	A	G153869966A	L1CAM	NM_001278116.2(L1CAM):c.992-32C>T	noncoding	Benign/Likely_benign
X	153869993	C	T	C153869993T	L1CAM	NM_001278116.2(L1CAM):c.992-59G>A	noncoding	Benign
X	153870097	G	A	G153870097A	L1CAM	NM_001278116.2(L1CAM):c.950C>T:p.Ser317Leu	coding	Benign
X	153870122	C	T	C153870122T	L1CAM	NM_001278116.2(L1CAM):c.925G>A:p.Glu309Lys	coding	Pathogenic/Likely_pathogenic
X	153870301	C	G	C153870301G	L1CAM	NM_001278116.2(L1CAM):c.807-61G>C	noncoding	Benign
X	153870370	C	T	C153870370T	L1CAM	NM_001278116.2(L1CAM):c.806+18G>A	noncoding	Benign
X	153870396	G	A	G153870396A	L1CAM	NM_001278116.2(L1CAM):c.798C>T:p.Ala266=	coding	Benign
X	153870509	G	A	G153870509A	L1CAM	NM_001278116.2(L1CAM):c.695-10C>T	noncoding	Benign
X	153870735	C	T	C153870735T	L1CAM	NM_001278116.2(L1CAM):c.694+55G>A	noncoding	Benign
X	153870880	C	T	C153870880T	L1CAM	NM_001278116.2(L1CAM):c.604G>A:p.Asp202Asn	coding	Pathogenic/Likely_pathogenic
X	153870914	G	A	G153870914A	L1CAM	NM_001278116.2(L1CAM):c.570C>T:p.Asn190=	coding	Benign/Likely_benign
X	153870980	C	T	C153870980T	L1CAM	NM_001278116.2(L1CAM):c.524-20G>A	noncoding	Benign
X	153871012	C	T	C153871012T	L1CAM	NM_001278116.2(L1CAM):c.523+45G>A	noncoding	Benign
X	153871044	C	T	C153871044T	L1CAM	NM_001278116.2(L1CAM):c.523+13G>A	noncoding	Benign
X	153871144	C	T	C153871144T	L1CAM	NM_001278116.2(L1CAM):c.436G>A:p.Val146Met	coding	Benign
X	153871268	T	C	T153871268C	L1CAM	NM_001278116.2(L1CAM):c.401-89A>G	noncoding	Benign
X	153871269	A	C	A153871269C	L1CAM	NM_001278116.2(L1CAM):c.401-90T>G	noncoding	Benign
X	153871867	C	T	C153871867T	L1CAM	NM_001278116.2(L1CAM):c.400+285G>A	noncoding	Benign
X	153872549	T	C	T153872549C	L1CAM	NM_001278116.2(L1CAM):c.197+43A>G	noncoding	Benign
X	153872877	G	A	G153872877A	L1CAM	NM_001278116.2(L1CAM):c.92-180C>T	noncoding	Benign
X	153875706	G	A	G153875706A	L1CAM	NM_001278116.2(L1CAM):c.76+55C>T	noncoding	Benign
X	153875867	G	C	G153875867C	L1CAM	NM_001278116.2(L1CAM):c.-31C>G	noncoding	Benign
X	153905288	A	G	A153905288G	AVPR2	NM_000054.7(AVPR2):c.25+118A>G	noncoding	Benign
X	153906110	C	T	C153906110T	AVPR2	NM_000054.7(AVPR2):c.604C>T:p.Arg202Cys	coding	Pathogenic
X	153906377	C	T	C153906377T	AVPR2	NM_000054.7(AVPR2):c.871C>T:p.Gln291Ter	coding	Pathogenic
X	153906417	G	A	G153906417A	AVPR2	NM_000054.7(AVPR2):c.910+1G>A	coding	Pathogenic
X	153906667	G	A	G153906667A	AVPR2	NM_000054.7(AVPR2):c.1055G>A:p.Gly352Asp	coding	Benign/Likely_benign
X	153915066	T	C	T153915066C	ARHGAP4	NM_001666.5(ARHGAP4):c.1033-1187A>G	noncoding	Benign
X	153915184	G	A	G153915184A	ARHGAP4	NM_001666.5(ARHGAP4):c.1033-1305C>T	noncoding	Benign
X	153929940	G	A	G153929940A	NAA10	NM_003491.4(NAA10):c.*47C>T	noncoding	Benign
X	153929948	T	C	T153929948C	NAA10	NM_003491.4(NAA10):c.*39A>G	noncoding	Pathogenic/Likely_pathogenic
X	153930225	T	G	T153930225G	NAA10	NM_003491.4(NAA10):c.472-2A>C	noncoding	Pathogenic
X	153930431	G	A	G153930431A	NAA10	NM_003491.4(NAA10):c.472-208C>T	noncoding	Benign
X	153930439	G	A	G153930439A	NAA10	NM_003491.4(NAA10):c.472-216C>T	noncoding	Benign
X	153930729	C	T	C153930729T	NAA10	NM_003491.4(NAA10):c.471+34G>A	noncoding	Benign
X	153932056	T	A	T153932056A	NAA10	NM_003491.4(NAA10):c.386+15A>T	noncoding	Benign
X	153932120	A	G	A153932120G	NAA10	NM_003491.4(NAA10):c.342-5T>C	noncoding	Benign
X	153932306	C	T	C153932306T	NAA10	NM_003491.4(NAA10):c.341+10G>A	noncoding	Benign
X	153933707	C	G	C153933707G	NAA10	NM_003491.4(NAA10):c.179+236G>C	noncoding	Benign
X	153933832	T	C	T153933832C	NAA10	NM_003491.4(NAA10):c.179+111A>G	noncoding	Benign
X	153933923	C	T	C153933923T	NAA10	NM_003491.4(NAA10):c.179+20G>A	noncoding	Benign
X	153934133	C	A	C153934133A	NAA10	NM_003491.4(NAA10):c.121-132G>T	noncoding	Benign
X	153934563	C	T	C153934563T	NAA10	NM_003491.4(NAA10):c.22-88G>A	noncoding	Benign
X	153934866	C	T	C153934866T	NAA10	NM_003491.4(NAA10):c.21+18G>A	noncoding	Benign
X	153934889	C	G	C153934889G	NAA10	NM_003491.4(NAA10):c.16G>C:p.Ala6Pro	coding	Pathogenic
X	153935224	A	G	A153935224G	NAA10	Single_allele	noncoding	Benign
X	153935244	C	T	C153935244T	NAA10	Single_allele	noncoding	Benign
X	153944417	T	C	T153944417C	RENBP	NM_002910.6(RENBP):c.29A>G:p.Asp10Gly	coding	Benign/Likely_benign
X	153949054	G	A	G153949054A	HCFC1	NM_005334.3(HCFC1):c.*293C>T	noncoding	Benign
X	153949391	G	A	G153949391A	HCFC1	NM_005334.3(HCFC1):c.6069-5C>T	noncoding	Benign
X	153949575	G	A	G153949575A	HCFC1	NM_005334.3(HCFC1):c.6046C>T:p.Arg2016Trp	coding	Pathogenic
X	153949894	G	A	G153949894A	HCFC1	NM_005334.3(HCFC1):c.6005-278C>T	noncoding	Benign
X	153950295	G	A	G153950295A	HCFC1	NM_005334.3(HCFC1):c.5952C>T:p.Ala1984=	coding	Benign
X	153950343	G	A	G153950343A	HCFC1	NM_005334.3(HCFC1):c.5904C>T:p.Asn1968=	coding	Benign
X	153950496	G	A	G153950496A	HCFC1	NM_005334.3(HCFC1):c.5751C>T:p.Ser1917=	coding	Benign/Likely_benign
X	153950585	G	A	G153950585A	HCFC1	NM_005334.3(HCFC1):c.5704-42C>T	noncoding	Benign
X	153951371	T	C	T153951371C	HCFC1	NM_005334.3(HCFC1):c.5496A>G:p.Pro1832=	coding	Benign
X	153951525	A	C	A153951525C	HCFC1	NM_005334.3(HCFC1):c.5380-38T>G	noncoding	Benign
X	153951569	C	T	C153951569T	HCFC1	NM_005334.3(HCFC1):c.5379+20G>A	noncoding	Benign
X	153951724	T	C	T153951724C	HCFC1	NM_005334.3(HCFC1):c.5261-17A>G	noncoding	Benign/Likely_benign
X	153951740	T	G	T153951740G	HCFC1	NM_005334.3(HCFC1):c.5261-33A>C	noncoding	Benign
X	153951748	C	T	C153951748T	HCFC1	NM_005334.3(HCFC1):c.5261-41G>A	noncoding	Benign
X	153951895	G	A	G153951895A	HCFC1	NM_005334.3(HCFC1):c.5206C>T:p.Leu1736=	coding	Benign
X	153951941	G	A	G153951941A	HCFC1	NM_005334.3(HCFC1):c.5160C>T:p.Ala1720=	coding	Benign
X	153952169	G	A	G153952169A	HCFC1	NM_005334.3(HCFC1):c.4943-11C>T	noncoding	Benign
X	153952560	G	A	G153952560A	HCFC1	NM_005334.3(HCFC1):c.4896C>T:p.Ala1632=	coding	Benign
X	153953303	C	T	C153953303T	HCFC1	NM_005334.3(HCFC1):c.4497+304G>A	noncoding	Benign
X	153953469	G	A	G153953469A	HCFC1	NM_005334.3(HCFC1):c.4497+138C>T	noncoding	Benign
X	153953975	G	A	G153953975A	HCFC1	NM_005334.3(HCFC1):c.4333+91C>T	noncoding	Benign
X	153954204	C	T	C153954204T	HCFC1	NM_005334.3(HCFC1):c.4195G>A:p.Val1399Ile	coding	Benign
X	153954241	G	C	G153954241C	HCFC1	NM_005334.3(HCFC1):c.4158C>G:p.Thr1386=	coding	Benign
X	153954382	G	A	G153954382A	HCFC1	NM_005334.3(HCFC1):c.4017C>T:p.Asn1339=	coding	Benign
X	153954412	G	A	G153954412A	HCFC1	NM_005334.3(HCFC1):c.3987C>T:p.Thr1329=	coding	Benign
X	153954436	T	C	T153954436C	HCFC1	NM_005334.3(HCFC1):c.3963A>G:p.Pro1321=	coding	Benign/Likely_benign
X	153954439	C	T	C153954439T	HCFC1	NM_005334.3(HCFC1):c.3960G>A:p.Pro1320=	coding	Benign
X	153955887	G	A	G153955887A	HCFC1	NM_005334.3(HCFC1):c.2856+304C>T	noncoding	Benign
X	153955925	C	T	C153955925T	HCFC1	NM_005334.3(HCFC1):c.2856+266G>A	noncoding	Benign
X	153956117	G	A	G153956117A	HCFC1	NM_005334.3(HCFC1):c.2856+74C>T	noncoding	Benign
X	153956362	G	A	G153956362A	HCFC1	NM_005334.3(HCFC1):c.2685C>T:p.Ala895=	coding	Benign
X	153956603	G	A	G153956603A	HCFC1	NM_005334.3(HCFC1):c.2635+22C>T	noncoding	Benign
X	153956656	G	A	G153956656A	HCFC1	NM_005334.3(HCFC1):c.2604C>T:p.Ala868=	coding	Benign/Likely_benign
X	153956668	G	A	G153956668A	HCFC1	NM_005334.3(HCFC1):c.2592C>T:p.Ala864=	coding	Benign/Likely_benign
X	153957935	G	A	G153957935A	HCFC1	NM_005334.3(HCFC1):c.2029-49C>T	noncoding	Benign
X	153958394	C	T	C153958394T	HCFC1	NM_005334.3(HCFC1):c.1804-145G>A	noncoding	Benign
X	153958556	G	A	G153958556A	HCFC1	NM_005334.3(HCFC1):c.1803+13C>T	noncoding	Benign
X	153958779	C	T	C153958779T	HCFC1	NM_005334.3(HCFC1):c.1606-13G>A	noncoding	Benign/Likely_benign
X	153959026	C	T	C153959026T	HCFC1	NM_005334.3(HCFC1):c.1606-260G>A	noncoding	Benign
X	153959138	G	A	G153959138A	HCFC1	NM_005334.3(HCFC1):c.1605+193C>T	noncoding	Benign
X	153959532	C	T	C153959532T	HCFC1	NM_005334.3(HCFC1):c.1445-41G>A	noncoding	Benign
X	153960177	G	C	G153960177C	HCFC1	NM_005334.3(HCFC1):c.1085-16C>G	noncoding	Benign/Likely_benign
X	153962407	G	C	G153962407C	HCFC1	NM_005334.3(HCFC1):c.713-101C>G	noncoding	Benign
X	153963156	C	T	C153963156T	HCFC1	NM_005334.3(HCFC1):c.712+69G>A	noncoding	Benign
X	153964026	G	A	G153964026A	HCFC1	NM_005334.3(HCFC1):c.503+98C>T	noncoding	Benign
X	153964110	G	C	G153964110C	HCFC1	NM_005334.3(HCFC1):c.503+14C>G	noncoding	Benign/Likely_benign
X	153964247	G	A	G153964247A	HCFC1	NM_005334.3(HCFC1):c.380C>T:p.Thr127Met	coding	Benign/Likely_benign
X	153964321	G	A	G153964321A	HCFC1	NM_005334.3(HCFC1):c.343-37C>T	noncoding	Benign
X	153964462	A	G	A153964462G	HCFC1	NM_005334.3(HCFC1):c.342+116T>C	noncoding	Benign
X	154030353	C	T	C154030353T	MECP2	NM_001110792.2(MECP2):c.*14G>A	noncoding	Benign
X	154030412	C	G	C154030412G	MECP2	NM_001110792.2(MECP2):c.1452G>C:p.Glu484Asp	coding	Benign
X	154030425	C	G	C154030425G	MECP2	NM_001110792.2(MECP2):c.1439G>C:p.Arg480Thr	coding	Benign
X	154030505	G	A	G154030505A	MECP2	NM_001110792.2(MECP2):c.1359C>T:p.Ala453=	coding	Benign
X	154030547	G	A	G154030547A	MECP2	NM_001110792.2(MECP2):c.1317C>T:p.Asp439=	coding	Benign
X	154030561	A	G	A154030561G	MECP2	NM_001110792.2(MECP2):c.1303T>C:p.Ser435Pro	coding	Benign
X	154030573	G	A	G154030573A	MECP2	NM_001110792.2(MECP2):c.1291C>T:p.Pro431Ser	coding	Benign
X	154030614	G	A	G154030614A	MECP2	NM_001110792.2(MECP2):c.1250C>T:p.Pro417Leu	coding	Benign
X	154030623	G	A	G154030623A	MECP2	NM_001110792.2(MECP2):c.1241C>T:p.Pro414Leu	coding	Benign
X	154030624	G	A	G154030624A	MECP2	NM_001110792.2(MECP2):c.1240C>T:p.Pro414Ser	coding	Benign
X	154030690	C	T	C154030690T	MECP2	NM_001110792.2(MECP2):c.1174G>A:p.Val392Met	coding	Benign
X	154030693	G	A	G154030693A	MECP2	NM_001110792.2(MECP2):c.1171C>T:p.Pro391Ser	coding	Benign/Likely_benign
X	154030695	G	A	G154030695A	MECP2	NM_001110792.2(MECP2):c.1169C>T:p.Ala390Val	coding	Benign
X	154030702	G	A	G154030702A	MECP2	NM_001110792.2(MECP2):c.1162C>T:p.Pro388Ser	coding	Benign
X	154030708	C	G	C154030708G	MECP2	NM_001110792.2(MECP2):c.1156G>C:p.Glu386Gln	coding	Benign
X	154030727	G	A	G154030727A	MECP2	NM_001110792.2(MECP2):c.1137C>T:p.His379=	coding	Benign
X	154030727	G	C	G154030727C	MECP2	NM_001110792.2(MECP2):c.1137C>G:p.His379Gln	coding	Benign
X	154030733	C	T	C154030733T	MECP2	NM_001110792.2(MECP2):c.1131G>A:p.Glu377=	coding	Benign
X	154030762	T	C	T154030762C	MECP2	NM_001110792.2(MECP2):c.1102A>G:p.Ser368Gly	coding	Benign
X	154030798	G	A	G154030798A	MECP2	NM_001110792.2(MECP2):c.1066C>T:p.Arg356Trp	coding	Benign
X	154030851	G	T	G154030851T	MECP2	NM_001110792.2(MECP2):c.1013C>A:p.Ser338Tyr	coding	Benign
X	154030896	G	A	G154030896A	MECP2	NM_001110792.2(MECP2):c.968C>T:p.Thr323Met	coding	Benign
X	154030946	T	C	T154030946C	MECP2	NM_001110792.2(MECP2):c.918A>G:p.Arg306=	coding	Benign/Likely_benign
X	154030949	G	C	G154030949C	MECP2	NM_001110792.2(MECP2):c.915C>G:p.Ile305Met	coding	Benign
X	154030966	C	T	C154030966T	MECP2	NM_001110792.2(MECP2):c.898G>A:p.Val300Met	coding	Benign/Likely_benign
X	154030976	T	C	T154030976C	MECP2	NM_001110792.2(MECP2):c.888A>G:p.Lys296=	coding	Benign
X	154030988	G	A	G154030988A	MECP2	NM_001110792.2(MECP2):c.876C>T:p.Ala292=	coding	Benign
X	154030992	G	C	G154030992C	MECP2	NM_001110792.2(MECP2):c.872C>G:p.Ala291Gly	coding	Benign
X	154031058	G	C	G154031058C	MECP2	NM_001110792.2(MECP2):c.806C>G:p.Ala269Gly	coding	Benign
X	154031149	G	C	G154031149C	MECP2	NM_001110792.2(MECP2):c.715C>G:p.Gln239Glu	coding	Benign
X	154031182	T	C	T154031182C	MECP2	NM_001110792.2(MECP2):c.682A>G:p.Ser228Gly	coding	Benign
X	154031223	G	A	G154031223A	MECP2	NM_001110792.2(MECP2):c.641C>T:p.Ala214Val	coding	Benign/Likely_benign
X	154031233	G	A	G154031233A	MECP2	NM_001110792.2(MECP2):c.631C>T:p.Pro211Ser	coding	Benign
X	154031277	G	C	G154031277C	MECP2	NM_001110792.2(MECP2):c.587C>G:p.Thr196Ser	coding	Benign
X	154031291	G	C	G154031291C	MECP2	NM_001110792.2(MECP2):c.573C>G:p.Pro191=	coding	Benign
X	154031300	G	A	G154031300A	MECP2	NM_001110792.2(MECP2):c.564C>T:p.Pro188=	coding	Benign/Likely_benign
X	154031357	G	C	G154031357C	MECP2	NM_001110792.2(MECP2):c.507C>G:p.Phe169Leu	coding	Pathogenic
X	154031357	G	T	G154031357T	MECP2	NM_001110792.2(MECP2):c.507C>A:p.Phe169Leu	coding	Pathogenic/Likely_pathogenic
X	154031359	A	T	A154031359T	MECP2	NM_001110792.2(MECP2):c.505T>A:p.Phe169Ile	coding	Pathogenic
X	154031373	G	C	G154031373C	MECP2	NM_001110792.2(MECP2):c.491C>G:p.Pro164Arg	coding	Pathogenic
X	154031380	G	A	G154031380A	MECP2	NM_001110792.2(MECP2):c.484C>T:p.Leu162=	coding	Benign
X	154031406	T	C	T154031406C	MECP2	NM_001110792.2(MECP2):c.458A>G:p.Tyr153Cys	coding	Pathogenic
X	154031431	G	A	G154031431A	MECP2	NM_001110792.2(MECP2):c.433C>T:p.Arg145Cys	coding	Pathogenic
X	154031435	G	C	G154031435C	MECP2	NM_001110792.2(MECP2):c.429C>G:p.Ala143=	coding	Benign
X	154031453	G	A	G154031453A	MECP2	NM_001110792.2(MECP2):c.414-3C>T	noncoding	Benign
X	154031456	G	C	G154031456C	MECP2	NM_001110792.2(MECP2):c.414-6C>G	noncoding	Benign
X	154032209	G	T	G154032209T	MECP2	NM_001110792.2(MECP2):c.411C>A:p.Ile137=	coding	Benign
X	154032212	C	A	C154032212A	MECP2	NM_001110792.2(MECP2):c.408G>T:p.Leu136Phe	coding	Pathogenic
X	154032221	A	C	A154032221C	MECP2	NM_001110792.2(MECP2):c.399T>G:p.Asp133Glu	coding	Benign
X	154032337	G	A	G154032337A	MECP2	NM_001110792.2(MECP2):c.283C>T:p.Gln95Ter	coding	Pathogenic
X	154032416	G	A	G154032416A	MECP2	NM_001110792.2(MECP2):c.204C>T:p.Pro68=	coding	Benign
X	154032429	T	C	T154032429C	MECP2	NM_001110792.2(MECP2):c.191A>G:p.His64Arg	coding	Benign
X	154032448	C	T	C154032448T	MECP2	NM_001110792.2(MECP2):c.172G>A:p.Val58Met	coding	Benign/Likely_benign
X	154032449	G	A	G154032449A	MECP2	NM_001110792.2(MECP2):c.171C>T:p.Pro57=	coding	Benign/Likely_benign
X	154032545	T	C	T154032545C	MECP2	NM_001110792.2(MECP2):c.75A>G:p.Ser25=	coding	Benign
X	154032546	G	C	G154032546C	MECP2	NM_001110792.2(MECP2):c.74C>G:p.Ser25Ter	coding	Pathogenic
X	154097661	G	A	G154097661A	MECP2	NM_001110792.2(MECP2):c.5C>T:p.Ala2Val	coding	Pathogenic/Likely_pathogenic
X	154097663	C	T	C154097663T	MECP2	NM_001110792.2(MECP2):c.3G>A:p.Met1Ile	coding	Pathogenic
X	154150812	G	A	G154150812A	OPN1LW	NM_020061.6(OPN1LW):c.269G>A:p.Trp90Ter	coding	Pathogenic
X	154150897	C	G	C154150897G	OPN1LW	NM_020061.6(OPN1LW):c.354C>G:p.Tyr118Ter	coding	Pathogenic
X	154153041	G	A	G154153041A	OPN1LW	NM_020061.6(OPN1LW):c.511G>A:p.Val171Met	coding	Benign
X	154153043	G	T	G154153043T	OPN1LW	NM_020061.6(OPN1LW):c.513G>T:p.Val171=	coding	Benign
X	154156440	C	G	C154156440G	OPN1LW	NM_020061.6(OPN1LW):c.891C>G:p.Tyr297Ter	coding	Pathogenic
X	154156506	C	T	C154156506T	OPN1LW	NM_020061.6(OPN1LW):c.957C>T:p.Pro319=	coding	Benign/Likely_benign
X	154187851	T	C	T154187851C	OPN1MW	NM_000513.2(OPN1MW):c.194T>C:p.Ile65Thr	coding	Benign/Likely_benign
X	154190165	C	T	C154190165T	OPN1MW	NM_000513.2(OPN1MW):c.521C>T:p.Ala174Val	coding	Benign
X	154190182	G	T	G154190182T	OPN1MW	NM_000513.2(OPN1MW):c.538G>T:p.Ala180Ser	coding	Benign
X	154230656	G	A	G154230656A	OPN1MW2	NM_001048181.3(OPN1MW2):c.853G>A:p.Ala285Thr	coding	Benign/Likely_benign
X	154348732	G	A	G154348732A	FLNA	NM_001110556.2(FLNA):c.*117C>T	noncoding	Benign
X	154348765	T	G	T154348765G	FLNA	NM_001110556.2(FLNA):c.*84A>C	noncoding	Benign
X	154349342	C	A	C154349342A	FLNA	NM_001110556.2(FLNA):c.7756+20G>T	noncoding	Benign
X	154349342	C	T	C154349342T	FLNA	NM_001110556.2(FLNA):c.7756+20G>A	noncoding	Benign/Likely_benign
X	154349408	G	C	G154349408C	FLNA	NM_001110556.2(FLNA):c.7710C>G:p.Ala2570=	coding	Benign
X	154350049	G	T	G154350049T	FLNA	NM_001110556.2(FLNA):c.7315C>A:p.Leu2439Met	coding	Pathogenic
X	154351007	A	G	A154351007G	FLNA	NM_001110556.2(FLNA):c.7058T>C:p.Phe2353Ser	coding	Pathogenic
X	154351710	G	C	G154351710C	FLNA	NM_001110556.2(FLNA):c.6908-14C>G	noncoding	Benign/Likely_benign
X	154351893	G	A	G154351893A	FLNA	NM_001110556.2(FLNA):c.6898C>T:p.Gln2300Ter	coding	Pathogenic
X	154351944	T	G	T154351944G	FLNA	NM_001110556.2(FLNA):c.6847A>C:p.Ile2283Leu	coding	Benign/Likely_benign
X	154352692	C	T	C154352692T	FLNA	NM_001110556.2(FLNA):c.6380-17G>A	noncoding	Benign/Likely_benign
X	154352833	G	C	G154352833C	FLNA	NM_001110556.2(FLNA):c.6318C>G:p.Tyr2106Ter	coding	Pathogenic
X	154352854	G	A	G154352854A	FLNA	NM_001110556.2(FLNA):c.6297C>T:p.Asp2099=	coding	Benign/Likely_benign
X	154352934	G	A	G154352934A	FLNA	NM_001110556.2(FLNA):c.6227-10C>T	noncoding	Benign/Likely_benign
X	154353064	G	A	G154353064A	FLNA	NM_001110556.2(FLNA):c.6163C>T:p.Gln2055Ter	coding	Pathogenic
X	154353341	G	A	G154353341A	FLNA	NM_001110556.2(FLNA):c.5977C>T:p.Arg1993Trp	coding	Benign/Likely_benign
X	154353411	G	A	G154353411A	FLNA	NM_001110556.2(FLNA):c.5907C>T:p.Ala1969=	coding	Benign/Likely_benign
X	154353459	T	C	T154353459C	FLNA	NM_001110556.2(FLNA):c.5861-2A>G	noncoding	Pathogenic
X	154354009	G	A	G154354009A	FLNA	NM_001110556.2(FLNA):c.5592C>T:p.Asn1864=	coding	Benign/Likely_benign
X	154354174	C	T	C154354174T	FLNA	NM_001110556.2(FLNA):c.5534G>A:p.Arg1845His	coding	Benign
X	154354812	C	T	C154354812T	FLNA	NM_001110556.2(FLNA):c.5217+13G>A	noncoding	Benign
X	154357327	G	A	G154357327A	FLNA	NM_001110556.2(FLNA):c.4946-53C>T	noncoding	Benign
X	154357486	C	T	C154357486T	FLNA	NM_001110556.2(FLNA):c.4893G>A:p.Pro1631=	coding	Benign/Likely_benign
X	154358407	T	C	T154358407C	FLNA	NM_001110556.2(FLNA):c.4598+38A>G	noncoding	Benign
X	154358464	C	T	C154358464T	FLNA	NM_001110556.2(FLNA):c.4579G>A:p.Asp1527Asn	coding	Benign/Likely_benign
X	154358895	T	G	T154358895G	FLNA	NM_001110556.2(FLNA):c.4474+89A>C	noncoding	Benign
X	154359391	G	A	G154359391A	FLNA	NM_001110556.2(FLNA):c.4158C>T:p.Gly1386=	coding	Benign
X	154360426	G	A	G154360426A	FLNA	NM_001110556.2(FLNA):c.3369C>T:p.Ser1123=	coding	Benign/Likely_benign
X	154360486	C	T	C154360486T	FLNA	NM_001110556.2(FLNA):c.3309G>A:p.Thr1103=	coding	Benign/Likely_benign
X	154361451	G	C	G154361451C	FLNA	NM_001110556.2(FLNA):c.3064C>G:p.Pro1022Ala	coding	Benign/Likely_benign
X	154361550	G	A	G154361550A	FLNA	NM_001110556.2(FLNA):c.2965C>T:p.Gln989Ter	coding	Pathogenic
X	154361775	C	T	C154361775T	FLNA	NM_001110556.2(FLNA):c.2839G>A:p.Val947Ile	coding	Benign/Likely_benign
X	154362043	C	T	C154362043T	FLNA	NM_001110556.2(FLNA):c.2762G>A:p.Arg921Gln	coding	Benign
X	154362167	C	T	C154362167T	FLNA	NM_001110556.2(FLNA):c.2657-19G>A	noncoding	Benign/Likely_benign
X	154362224	T	C	T154362224C	FLNA	NM_001110556.2(FLNA):c.2656+18A>G	noncoding	Benign
X	154362289	T	C	T154362289C	FLNA	NM_001110556.2(FLNA):c.2609A>G:p.His870Arg	coding	Benign/Likely_benign
X	154364368	T	C	T154364368C	FLNA	NM_001110556.2(FLNA):c.2027A>G:p.Lys676Arg	coding	Benign/Likely_benign
X	154364376	G	C	G154364376C	FLNA	NM_001110556.2(FLNA):c.2023-4C>G	noncoding	Benign/Likely_benign
X	154364624	C	A	C154364624A	FLNA	NM_001110556.2(FLNA):c.1924G>T:p.Glu642Ter	coding	Pathogenic/Likely_pathogenic
X	154364641	C	T	C154364641T	FLNA	NM_001110556.2(FLNA):c.1907G>A:p.Trp636Ter	coding	Pathogenic
X	154364729	G	A	G154364729A	FLNA	NM_001110556.2(FLNA):c.1829-10C>T	noncoding	Benign
X	154364836	C	T	C154364836T	FLNA	NM_001110556.2(FLNA):c.1813G>A:p.Asp605Asn	coding	Benign/Likely_benign
X	154364890	C	A	C154364890A	FLNA	NM_001110556.2(FLNA):c.1759G>T:p.Glu587Ter	coding	Pathogenic
X	154365278	C	T	C154365278T	FLNA	NM_001110556.2(FLNA):c.1568-19G>A	noncoding	Benign/Likely_benign
X	154366125	C	T	C154366125T	FLNA	NM_001110556.2(FLNA):c.1328G>A:p.Arg443His	coding	Benign
X	154366444	G	A	G154366444A	FLNA	NM_001110556.2(FLNA):c.1092C>T:p.His364=	coding	Benign/Likely_benign
X	154367176	G	A	G154367176A	FLNA	NM_001110556.2(FLNA):c.868+221C>T	noncoding	Benign
X	154367629	G	A	G154367629A	FLNA	NM_001110556.2(FLNA):c.720+12C>T	noncoding	Benign/Likely_benign
X	154367632	C	T	C154367632T	FLNA	NM_001110556.2(FLNA):c.720+9G>A	noncoding	Benign/Likely_benign
X	154367656	C	T	C154367656T	FLNA	NM_001110556.2(FLNA):c.705G>A:p.Trp235Ter	coding	Pathogenic
X	154367670	G	A	G154367670A	FLNA	NM_001110556.2(FLNA):c.691C>T:p.Gln231Ter	coding	Pathogenic
X	154367679	C	A	C154367679A	FLNA	NM_001110556.2(FLNA):c.682G>T:p.Ala228Ser	coding	Pathogenic
X	154367887	G	A	G154367887A	FLNA	NM_001110556.2(FLNA):c.577C>T:p.Gln193Ter	coding	Pathogenic
X	154371183	G	A	G154371183A	FLNA	NM_001110556.2(FLNA):c.63C>T:p.Val21=	coding	Benign/Likely_benign
X	154374426	C	A	C154374426A	FLNA	NM_001110556.2(FLNA):c.-117+80G>T	noncoding	Benign
X	154379486	T	G	T154379486G	EMD	NM_000117.3(EMD):c.2T>G:p.Met1Arg	coding	Pathogenic
X	154379709	C	G	C154379709G	EMD	NM_000117.3(EMD):c.102C>G:p.Tyr34Ter	coding	Pathogenic
X	154379930	C	T	C154379930T	EMD	NM_000117.3(EMD):c.188-12C>T	noncoding	Benign/Likely_benign
X	154379936	A	G	A154379936G	EMD	NM_000117.3(EMD):c.188-6A>G	noncoding	Pathogenic
X	154380250	C	A	C154380250A	EMD	NM_000117.3(EMD):c.282C>A:p.Tyr94Ter	coding	Pathogenic
X	154380368	G	T	G154380368T	EMD	NM_000117.3(EMD):c.399+1G>T	coding	Pathogenic
X	154380416	G	A	G154380416A	EMD	NM_000117.3(EMD):c.399+49G>A	noncoding	Benign
X	154380733	G	A	G154380733A	EMD	NM_000117.3(EMD):c.400-20G>A	noncoding	Benign/Likely_benign
X	154380739	A	G	A154380739G	EMD	NM_000117.3(EMD):c.400-14A>G	noncoding	Benign/Likely_benign
X	154380785	A	G	A154380785G	EMD	NM_000117.3(EMD):c.432A>G:p.Glu144=	coding	Benign/Likely_benign
X	154380803	G	A	G154380803A	EMD	NM_000117.3(EMD):c.449+1G>A	coding	Pathogenic
X	154380898	G	A	G154380898A	EMD	NM_000117.3(EMD):c.466G>A:p.Gly156Ser	coding	Benign/Likely_benign
X	154380915	C	G	C154380915G	EMD	NM_000117.3(EMD):c.483C>G:p.Tyr161Ter	coding	Pathogenic
X	154380927	G	A	G154380927A	EMD	NM_000117.3(EMD):c.495G>A:p.Thr165=	coding	Benign/Likely_benign
X	154381178	A	G	A154381178G	EMD	NM_000117.3(EMD):c.746A>G:p.Glu249Gly	coding	Benign/Likely_benign
X	154381256	G	C	G154381256C	EMD	NM_000117.3(EMD):c.*59G>C	noncoding	Benign
X	154381257	C	T	C154381257T	EMD	NM_000117.3(EMD):c.*60C>T	noncoding	Benign
X	154398397	G	A	G154398397A	RPL10	NM_006013.5(RPL10):c.-24+3G>A	noncoding	Benign
X	154399844	A	G	A154399844G	RPL10	NM_006013.5(RPL10):c.232A>G:p.Lys78Glu	coding	Pathogenic
X	154400837	C	T	C154400837T	RPL10	NM_006013.5(RPL10):c.628C>T:p.Arg210Trp	coding	Benign
X	154400838	G	A	G154400838A	RPL10	NM_006013.5(RPL10):c.629G>A:p.Arg210Gln	coding	Benign
X	154411792	C	T	C154411792T	TAFAZZIN	NM_000116.5(TAFAZZIN):c.-52C>T	noncoding	Benign
X	154411825	G	C	G154411825C	TAFAZZIN	NM_000116.5(TAFAZZIN):c.-19G>C	noncoding	Benign
X	154411957	G	A	G154411957A	TAFAZZIN	NM_000116.5(TAFAZZIN):c.109+5G>A	coding	Pathogenic
X	154411957	G	C	G154411957C	TAFAZZIN	NM_000116.5(TAFAZZIN):c.109+5G>C	coding	Pathogenic
X	154412214	G	C	G154412214C	TAFAZZIN	NM_000116.5(TAFAZZIN):c.238G>C:p.Gly80Arg	coding	Pathogenic/Likely_pathogenic
X	154413282	C	T	C154413282T	TAFAZZIN	NM_000116.5(TAFAZZIN):c.284+30C>T	coding	Benign
X	154419550	C	T	C154419550T	TAFAZZIN	NM_000116.5(TAFAZZIN):c.468C>T:p.Gly156=	coding	Benign/Likely_benign
X	154419894	G	A	G154419894A	TAFAZZIN	NM_000116.5(TAFAZZIN):c.584-138G>A	noncoding	Benign
X	154420183	C	T	C154420183T	TAFAZZIN	NM_000116.5(TAFAZZIN):c.647-29C>T	noncoding	Benign
X	154420705	C	T	C154420705T	TAFAZZIN	NM_000116.5(TAFAZZIN):c.747C>T:p.Leu249=	coding	Benign/Likely_benign
X	154428498	T	G	T154428498G	ATP6AP1	Single_allele	noncoding	Benign
X	154429045	C	T	C154429045T	ATP6AP1	NM_001183.6(ATP6AP1):c.162-3C>T	noncoding	Benign
X	154429051	C	G	C154429051G	ATP6AP1	NM_001183.6(ATP6AP1):c.165C>G:p.Asp55Glu	coding	Benign
X	154429112	A	G	A154429112G	ATP6AP1	NM_001183.6(ATP6AP1):c.226A>G:p.Thr76Ala	coding	Benign
X	154429414	A	G	A154429414G	ATP6AP1	NM_001183.6(ATP6AP1):c.288+240A>G	noncoding	Benign
X	154431548	G	A	G154431548A	ATP6AP1	NM_001183.6(ATP6AP1):c.289-282G>A	noncoding	Benign
X	154431724	T	C	T154431724C	ATP6AP1	NM_001183.6(ATP6AP1):c.289-106T>C	noncoding	Benign
X	154431886	C	T	C154431886T	ATP6AP1	NM_001183.6(ATP6AP1):c.345C>T:p.Ser115=	coding	Benign
X	154433630	C	T	C154433630T	ATP6AP1	NM_001183.6(ATP6AP1):c.599-5C>T	noncoding	Benign
X	154434778	T	C	T154434778C	ATP6AP1	NM_001183.6(ATP6AP1):c.923+332T>C	noncoding	Benign
X	154435026	G	A	G154435026A	ATP6AP1	NM_001183.6(ATP6AP1):c.924-113G>A	noncoding	Benign
X	154435112	A	G	A154435112G	ATP6AP1	NM_001183.6(ATP6AP1):c.924-27A>G	noncoding	Benign
X	154435291	G	A	G154435291A	ATP6AP1	NM_001183.6(ATP6AP1):c.989G>A:p.Arg330His	coding	Benign
X	154460239	G	A	G154460239A	PLXNA3	NM_017514.5(PLXNA3):c.56G>A:p.Gly19Asp	coding	Benign
X	154461553	G	A	G154461553A	PLXNA3	NM_017514.5(PLXNA3):c.1049G>A:p.Arg350Gln	coding	Benign
X	154477925	C	G	C154477925G	LAGE3	NM_006014.5(LAGE3):c.*19G>C	noncoding	Benign
X	154478445	C	G	C154478445G	LAGE3	NM_006014.5(LAGE3):c.189-34G>C	noncoding	Benign
X	154478718	G	C	G154478718C	LAGE3	NM_006014.5(LAGE3):c.188+10C>G	noncoding	Benign
X	154531696	A	G	A154531696G	G6PD	NM_001360016.2(G6PD):c.*304T>C	noncoding	Benign
X	154532082	G	A	G154532082A	G6PD	NM_001360016.2(G6PD):c.1466C>T:p.Pro489Leu	coding	Pathogenic
X	154532085	C	A	C154532085A	G6PD	NM_001360016.2(G6PD):c.1463G>T:p.Gly488Val	coding	Pathogenic
X	154532223	C	T	C154532223T	G6PD	NM_001360016.2(G6PD):c.1422G>A:p.Leu474_Glu475=	coding	Benign
X	154532293	G	A	G154532293A	G6PD	NM_001360016.2(G6PD):c.1365-13C>T	noncoding	Benign
X	154532389	C	G	C154532389G	G6PD	NM_001360016.2(G6PD):c.1361G>C:p.Arg454Pro	coding	Pathogenic/Likely_pathogenic
X	154532389	C	T	C154532389T	G6PD	NM_000402.4(G6PD):c.1451G>A:p.Arg484His	coding	Pathogenic
X	154532458	A	C	A154532458C	G6PD	NM_001360016.2(G6PD):c.1292T>G:p.Val431Gly	coding	Pathogenic
X	154532464	T	A	T154532464A	G6PD	NM_001360016.2(G6PD):c.1288-2A>T	noncoding	Pathogenic
X	154532569	T	C	T154532569C	G6PD	NM_001360016.2(G6PD):c.1285A>G:p.Lys429Glu	coding	Pathogenic
X	154532570	G	T	G154532570T	G6PD	NM_001360016.2(G6PD):c.1284C>A:p.Tyr428Ter	coding	Pathogenic
X	154532608	C	T	C154532608T	G6PD	NM_001360016.2(G6PD):c.1246G>A:p.Glu416Lys	coding	Pathogenic
X	154532625	C	T	C154532625T	G6PD	NM_000402.4(G6PD):c.1319G>A:p.Gly440Asp	coding	Pathogenic
X	154532626	C	A	C154532626A	G6PD	NM_000402.4(G6PD):c.1318G>T:p.Gly440Cys	coding	Pathogenic
X	154532628	G	C	G154532628C	G6PD	NM_001360016.2(G6PD):c.1226C>G:p.Pro409Arg	coding	Pathogenic
X	154532628	G	T	G154532628T	G6PD	NM_001360016.2(G6PD):c.1226C>A:p.Pro409Gln	coding	Pathogenic
X	154532629	G	A	G154532629A	G6PD	NM_001360016.2(G6PD):c.1225C>T:p.Pro409Ser	coding	Pathogenic
X	154532634	T	G	T154532634G	G6PD	NM_001360016.2(G6PD):c.1220A>C:p.Lys407Thr	coding	Pathogenic
X	154532639	C	T	C154532639T	G6PD	NM_001360016.2(G6PD):c.1215G>A:p.Met405Ile	coding	Pathogenic
X	154532649	G	T	G154532649T	G6PD	NM_001360016.2(G6PD):c.1205C>A:p.Thr402Asn	coding	Pathogenic
X	154532667	G	C	G154532667C	G6PD	NM_001360016.2(G6PD):c.1187C>G:p.Pro396Arg	coding	Pathogenic/Likely_pathogenic
X	154532668	G	C	G154532668C	G6PD	NM_001360016.2(G6PD):c.1186C>G:p.Pro396Ala	coding	Pathogenic/Likely_pathogenic
X	154532671	G	A	G154532671A	G6PD	NM_001360016.2(G6PD):c.1183C>T:p.Gln395Ter	coding	Pathogenic
X	154532677	G	C	G154532677C	G6PD	NM_001360016.2(G6PD):c.1177C>G:p.Arg393Gly	coding	Pathogenic
X	154532694	C	T	C154532694T	G6PD	NM_000402.4(G6PD):c.1250G>A:p.Arg417His	coding	Pathogenic
X	154532695	G	A	G154532695A	G6PD	NM_000402.4(G6PD):c.1249C>T:p.Arg417Cys	coding	Pathogenic
X	154532699	G	C	G154532699C	G6PD	NM_001360016.2(G6PD):c.1155C>G:p.Cys385Trp	coding	Pathogenic
X	154532711	G	C	G154532711C	G6PD	NM_001360016.2(G6PD):c.1143C>G:p.Phe381Leu	coding	Pathogenic
X	154532715	A	G	A154532715G	G6PD	NM_001360016.2(G6PD):c.1139T>C:p.Ile380Thr	coding	Pathogenic
X	154532716	T	C	T154532716C	G6PD	NM_001360016.2(G6PD):c.1138A>G:p.Ile380Val	coding	Pathogenic
X	154532736	A	G	A154532736G	G6PD	NM_001360016.2(G6PD):c.1118T>C:p.Phe373Ser	coding	Pathogenic
X	154532752	C	T	C154532752T	G6PD	NM_000402.4(G6PD):c.1192G>A:p.Glu398Lys	coding	Pathogenic
X	154532765	G	C	G154532765C	G6PD	NM_001360016.2(G6PD):c.1089C>G:p.Asn363Lys	coding	Pathogenic/Likely_pathogenic
X	154532797	G	A	G154532797A	G6PD	NM_000402.4(G6PD):c.1147C>T:p.Pro383Ser	coding	Pathogenic
X	154532989	G	T	G154532989T	G6PD	NM_001360016.2(G6PD):c.1004C>A:p.Ala335Asp	coding	Pathogenic/Likely_pathogenic
X	154533044	C	T	C154533044T	G6PD	NM_000402.4(G6PD):c.1039G>A:p.Glu347Lys	coding	Pathogenic
X	154533077	C	T	C154533077T	G6PD	NM_001360016.2(G6PD):c.916G>A:p.Gly306Ser	coding	Pathogenic
X	154533349	G	A	G154533349A	G6PD	NM_001360016.2(G6PD):c.865-221C>T	noncoding	Benign
X	154533413	G	A	G154533413A	G6PD	NM_001360016.2(G6PD):c.864+163C>T	noncoding	Benign
X	154533586	C	T	C154533586T	G6PD	NM_000402.4(G6PD):c.944G>A:p.Arg315His	coding	Pathogenic/Likely_pathogenic
X	154533613	G	A	G154533613A	G6PD	NM_001360016.2(G6PD):c.827C>T:p.Pro276Leu	coding	Pathogenic
X	154533860	G	A	G154533860A	G6PD	NM_001360016.2(G6PD):c.770+175C>T	noncoding	Benign
X	154534035	C	T	C154534035T	G6PD	NM_001360016.2(G6PD):c.770G>A:p.Arg257Gln	coding	Pathogenic
X	154534092	T	C	T154534092C	G6PD	NM_001360016.2(G6PD):c.713A>G:p.Lys238Arg	coding	Pathogenic
X	154534102	G	A	G154534102A	G6PD	NM_001360016.2(G6PD):c.703C>T:p.Leu235Phe	coding	Pathogenic/Likely_pathogenic
X	154534126	G	A	G154534126A	G6PD	NM_001360016.2(G6PD):c.679C>T:p.Arg227Trp	coding	Pathogenic
X	154534390	G	A	G154534390A	G6PD	NM_000402.4(G6PD):c.682C>T:p.Arg228Cys	coding	Pathogenic
X	154534419	G	A	G154534419A	G6PD	NM_000402.4(G6PD):c.653C>T:p.Ser218Phe	coding	Pathogenic/Likely_pathogenic
X	154534446	C	T	C154534446T	G6PD	NM_001360016.2(G6PD):c.536G>A:p.Ser179Asn	coding	Pathogenic
X	154534463	G	C	G154534463C	G6PD	NM_001360016.2(G6PD):c.519C>G:p.Phe173Leu	coding	Pathogenic
X	154534556	G	C	G154534556C	G6PD	NM_001360016.2(G6PD):c.486-60C>G	noncoding	Benign
X	154535208	C	T	C154535208T	G6PD	NM_001360016.2(G6PD):c.445G>A:p.Ala149Thr	coding	Benign
X	154535247	G	A	G154535247A	G6PD	NM_001360016.2(G6PD):c.406C>T:p.Arg136Cys	coding	Pathogenic/Likely_pathogenic
X	154535261	C	A	C154535261A	G6PD	NM_000402.4(G6PD):c.482G>T:p.Gly161Val	coding	Pathogenic
X	154535272	G	A	G154535272A	G6PD	NM_001360016.2(G6PD):c.381C>T:p.Ala127=	coding	Benign
X	154535330	A	T	A154535330T	G6PD	NM_001360016.2(G6PD):c.323T>A:p.Val108Glu	coding	Pathogenic
X	154535963	G	A	G154535963A	G6PD	NM_001360016.2(G6PD):c.241C>T:p.Arg81Cys	coding	Pathogenic
X	154535995	T	C	T154535995C	G6PD	NM_001360016.2(G6PD):c.209A>G:p.Tyr70Cys	coding	Pathogenic/Likely_pathogenic
X	154535996	A	G	A154535996G	G6PD	NM_000402.4(G6PD):c.298T>C:p.Tyr100His	coding	Pathogenic/Likely_pathogenic
X	154536032	C	T	C154536032T	G6PD	NM_000402.4(G6PD):c.262G>A:p.Asp88Asn	coding	Pathogenic
X	154536156	A	G	A154536156G	G6PD	NM_000402.4(G6PD):c.233T>C:p.Ile78Thr	coding	Pathogenic
X	154536168	G	C	G154536168C	G6PD	NM_000402.4(G6PD):c.221C>G:p.Ala74Gly	coding	Pathogenic
X	154536169	C	T	C154536169T	G6PD	NM_001360016.2(G6PD):c.130G>A:p.Ala44Thr	coding	Pathogenic
X	154536313	T	C	T154536313C	G6PD	NM_001360016.2(G6PD):c.121-135A>G	noncoding	Benign
X	154536448	C	T	C154536448T	G6PD	NM_001360016.2(G6PD):c.121-270G>A	noncoding	Benign
X	154542910	A	G	A154542910G	G6PD	NM_001360016.2(G6PD):c.120+3126T>C	noncoding	Benign
X	154543081	T	C	T154543081C	G6PD	NM_001360016.2(G6PD):c.120+2955A>G	noncoding	Benign
X	154545801	C	T	C154545801T	G6PD	NM_001360016.2(G6PD):c.120+235G>A	noncoding	Benign
X	154546049	A	G	A154546049G	G6PD	NM_001360016.2(G6PD):c.107T>C:p.Ile36Thr	coding	Benign
X	154546061	T	C	T154546061C	G6PD	NM_000402.4(G6PD):c.185A>G:p.His62Arg	coding	Pathogenic
X	154546125	G	A	G154546125A	G6PD	NM_001360016.2(G6PD):c.31C>T:p.Gln11Ter	coding	Pathogenic
X	154547466	A	C	A154547466C	G6PD	NM_001042351.3(G6PD):c.-9+2T>G	coding	Pathogenic
X	154547570	T	C	T154547570C	G6PD	NM_001042351.2(G6PD):c.-111A>G	coding	Benign/Likely_benign
X	154552187	G	A	G154552187A	IKBKG	NM_001099857.5(IKBKG):c.185G>A:p.Arg62Gln	coding	Pathogenic/Likely_pathogenic
X	154556314	G	A	G154556314A	IKBKG	NM_001099857.5(IKBKG):c.337G>A:p.Asp113Asn	coding	Benign/Likely_benign
X	154558684	C	G	C154558684G	IKBKG	NM_001099857.5(IKBKG):c.518+34C>G	noncoding	Benign
X	154559516	C	T	C154559516T	IKBKG	NM_001099857.5(IKBKG):c.518+866C>T	noncoding	Pathogenic
X	154560359	G	C	G154560359C	IKBKG	NM_001099857.5(IKBKG):c.519-48G>C	noncoding	Benign
X	154560405	A	G	A154560405G	IKBKG	NM_001099857.5(IKBKG):c.519-2A>G	noncoding	Pathogenic
X	154560561	T	G	T154560561G	IKBKG	NM_001099857.5(IKBKG):c.671+2T>G	noncoding	Pathogenic
X	154560564	G	A	G154560564A	IKBKG	NM_001099857.5(IKBKG):c.671+5G>A	noncoding	Pathogenic
X	154563499	G	A	G154563499A	IKBKG	NM_001099857.5(IKBKG):c.913-60G>A	noncoding	Benign
X	154563958	G	A	G154563958A	IKBKG	NM_001099857.5(IKBKG):c.1056-1G>A	noncoding	Pathogenic
X	154564021	G	A	G154564021A	IKBKG	NM_001099857.5(IKBKG):c.1117+1G>A	coding	Pathogenic
X	154564313	T	C	T154564313C	IKBKG	NM_001099857.5(IKBKG):c.1118-6T>C	noncoding	Benign
X	154762460	C	G	C154762460G	DKC1	Single_allele	noncoding	Benign
X	154762947	G	C	G154762947C	DKC1	NM_001363.5(DKC1):c.-19G>C	noncoding	Benign
X	154763183	C	T	C154763183T	DKC1	NM_001363.5(DKC1):c.16+202C>T	noncoding	Benign
X	154765497	G	A	G154765497A	DKC1	NM_001363.5(DKC1):c.138G>A:p.Lys46=	coding	Benign
X	154765895	G	A	G154765895A	DKC1	NM_001363.5(DKC1):c.172-12G>A	noncoding	Benign
X	154765924	T	G	T154765924G	DKC1	NM_001363.5(DKC1):c.189T>G:p.Asn63Lys	coding	Pathogenic
X	154766942	A	T	A154766942T	DKC1	NM_001363.5(DKC1):c.449-55A>T	coding	Benign
X	154768139	C	T	C154768139T	DKC1	NM_001363.5(DKC1):c.641-163C>T	noncoding	Benign
X	154768445	G	A	G154768445A	DKC1	NM_001363.5(DKC1):c.771+13G>A	coding	Benign
X	154769318	C	T	C154769318T	DKC1	NM_001363.5(DKC1):c.915+8C>T	noncoding	Benign/Likely_benign
X	154769420	C	T	C154769420T	DKC1	NM_001363.5(DKC1):c.915+110C>T	noncoding	Benign
X	154773284	C	T	C154773284T	DKC1	NM_001363.5(DKC1):c.1155+35C>T	noncoding	Benign
X	154776964	A	G	A154776964G	DKC1	NM_001363.5(DKC1):c.*97A>G	noncoding	Benign
X	154837658	C	T	C154837658T	F8	NM_000132.4(F8):c.6995G>A:p.Trp2332Ter	coding	Pathogenic
X	154837702	G	C	G154837702C	F8	NM_000132.4(F8):c.6951C>G:p.Asp2317Glu	coding	Pathogenic
X	154860578	C	G	C154860578G	F8	NM_000132.4(F8):c.6754G>C:p.Asp2252His	coding	Pathogenic
X	154901948	A	G	A154901948G	F8	NM_000132.4(F8):c.6115+103T>C	noncoding	Benign
X	154902099	C	T	C154902099T	F8	NM_000132.4(F8):c.6067G>A:p.Glu2023Lys	coding	Pathogenic
X	154902169	T	G	T154902169G	F8	NM_000132.4(F8):c.5999-2A>C	noncoding	Pathogenic
X	154902178	C	T	C154902178T	F8	NM_000132.4(F8):c.5999-11G>A	noncoding	Pathogenic
X	154903815	A	T	A154903815T	F8	NM_000132.4(F8):c.5998+91T>A	noncoding	Benign
X	154903928	C	T	C154903928T	F8	NM_000132.4(F8):c.5976G>A:p.Met1992Ile	coding	Pathogenic
X	154904021	C	T	C154904021T	F8	NM_000132.4(F8):c.5883G>A:p.Trp1961Ter	coding	Pathogenic
X	154904049	A	T	A154904049T	F8	NM_000132.4(F8):c.5855T>A:p.Val1952Glu	coding	Pathogenic
X	154904305	G	A	G154904305A	F8	NM_000132.4(F8):c.5806C>T:p.Arg1936Cys	coding	Pathogenic
X	154904408	G	T	G154904408T	F8	NM_000132.4(F8):c.5703C>A:p.Ile1901=	coding	Pathogenic
X	154904617	G	A	G154904617A	F8	NM_000132.4(F8):c.5587-93C>T	noncoding	Pathogenic/Likely_pathogenic
X	154904811	C	T	C154904811T	F8	NM_000132.4(F8):c.5586G>A:p.Leu1862=	coding	Pathogenic
X	154904948	G	A	G154904948A	F8	NM_000132.4(F8):c.5449C>T:p.Gln1817Ter	coding	Pathogenic
X	154905016	A	T	A154905016T	F8	NM_000132.4(F8):c.5381T>A:p.Phe1794Tyr	coding	Pathogenic
X	154906458	C	T	C154906458T	F8	NM_000132.4(F8):c.5335G>A:p.Gly1779Arg	coding	Pathogenic
X	154906491	G	A	G154906491A	F8	NM_000132.4(F8):c.5302C>T:p.Arg1768Cys	coding	Pathogenic/Likely_pathogenic
X	154906502	T	C	T154906502C	F8	NM_000132.4(F8):c.5291A>G:p.Gln1764Arg	coding	Pathogenic
X	154906575	T	C	T154906575C	F8	NM_000132.4(F8):c.5220-2A>G	noncoding	Pathogenic
X	154928570	C	T	C154928570T	F8	NM_000132.4(F8):c.5219+1G>A	noncoding	Pathogenic
X	154928646	C	T	C154928646T	F8	NM_000132.4(F8):c.5144G>A:p.Arg1715Gln	coding	Pathogenic
X	154928890	C	A	C154928890A	F8	NM_000132.4(F8):c.4900G>T:p.Glu1634Ter	coding	Pathogenic
X	154928962	C	A	C154928962A	F8	NM_000132.4(F8):c.4828G>T:p.Ala1610Ser	coding	Pathogenic
X	154929032	C	T	C154929032T	F8	NM_000132.4(F8):c.4758G>A:p.Trp1586Ter	coding	Pathogenic
X	154929154	G	A	G154929154A	F8	NM_000132.4(F8):c.4636C>T:p.Gln1546Ter	coding	Pathogenic
X	154929259	C	T	C154929259T	F8	NM_000132.4(F8):c.4531G>A:p.Val1511Ile	coding	Pathogenic
X	154929691	T	A	T154929691A	F8	NM_000132.4(F8):c.4099A>T:p.Thr1367Ser	coding	Pathogenic
X	154929718	G	A	G154929718A	F8	NM_000132.4(F8):c.4072C>T:p.Gln1358Ter	coding	Pathogenic
X	154929804	C	T	C154929804T	F8	NM_000132.4(F8):c.3986G>A:p.Arg1329His	coding	Pathogenic
X	154929954	C	T	C154929954T	F8	NM_000132.4(F8):c.3836G>A:p.Arg1279Lys	coding	Pathogenic
X	154930089	T	A	T154930089A	F8	NM_000132.4(F8):c.3701A>T:p.His1234Leu	coding	Pathogenic
X	154930524	G	T	G154930524T	F8	NM_000132.4(F8):c.3266C>A:p.Ser1089Ter	coding	Pathogenic
X	154930843	C	T	C154930843T	F8	NM_000132.4(F8):c.2947G>A:p.Val983Ile	coding	Benign/Likely_benign
X	154930888	C	A	C154930888A	F8	NM_000132.4(F8):c.2902G>T:p.Glu968Ter	coding	Pathogenic
X	154930950	G	C	G154930950C	F8	NM_000132.4(F8):c.2840C>G:p.Pro947Arg	coding	Pathogenic
X	154930987	G	A	G154930987A	F8	NM_000132.4(F8):c.2803C>T:p.Gln935Ter	coding	Pathogenic
X	154931350	G	A	G154931350A	F8	NM_000132.4(F8):c.2440C>T:p.Arg814Ter	coding	Pathogenic
X	154931627	C	A	C154931627A	F8	NM_000132.4(F8):c.2163G>T:p.Met721Ile	coding	Pathogenic
X	154931628	A	G	A154931628G	F8	NM_000132.4(F8):c.2162T>C:p.Met721Thr	coding	Pathogenic
X	154931776	T	C	T154931776C	F8	NM_000132.4(F8):c.2114-100A>G	noncoding	Benign
X	154947763	T	C	T154947763C	F8	NM_000132.4(F8):c.2048A>G:p.Tyr683Cys	coding	Pathogenic
X	154947901	T	C	T154947901C	F8	NM_000132.4(F8):c.1910A>G:p.Asn637Ser	coding	Pathogenic
X	154953887	C	T	C154953887T	F8	NM_000132.4(F8):c.1903+5G>A	noncoding	Pathogenic
X	154957013	G	A	G154957013A	F8	NM_000132.4(F8):c.1696C>T:p.Leu566Phe	coding	Pathogenic
X	154957172	C	A	C154957172A	F8	NM_000132.4(F8):c.1538-1G>T	coding	Pathogenic
X	154961092	G	C	G154961092C	F8	NM_000132.4(F8):c.1520C>G:p.Ser507Ter	coding	Pathogenic
X	154961127	G	C	G154961127C	F8	NM_000132.4(F8):c.1485C>G:p.Tyr495Ter	coding	Pathogenic
X	154965968	A	C	A154965968C	F8	NM_000132.4(F8):c.1443+2T>G	noncoding	Pathogenic
X	154966097	C	A	C154966097A	F8	NM_000132.4(F8):c.1316G>T:p.Gly439Val	coding	Pathogenic
X	154966433	C	G	C154966433G	F8	NM_000132.4(F8):c.1264G>C:p.Asp422His	coding	Pathogenic
X	154966494	C	T	C154966494T	F8	NM_000132.4(F8):c.1203G>A:p.Trp401Ter	coding	Pathogenic
X	154966495	C	T	C154966495T	F8	NM_000132.4(F8):c.1202G>A:p.Trp401Ter	coding	Pathogenic
X	154966667	T	G	T154966667G	F8	NM_000132.4(F8):c.1030A>C:p.Lys344Gln	coding	Pathogenic
X	154969895	G	C	G154969895C	F8	NM_000132.4(F8):c.788-343C>G	noncoding	Benign
X	154984684	T	C	T154984684C	F8	NM_000132.4(F8):c.787+3A>G	noncoding	Pathogenic
X	154984714	T	C	T154984714C	F8	NM_000132.4(F8):c.760A>G:p.Asn254Asp	coding	Pathogenic
X	154984741	G	A	G154984741A	F8	NM_000132.4(F8):c.733C>T:p.Arg245Trp	coding	Pathogenic/Likely_pathogenic
X	154984804	C	T	C154984804T	F8	NM_000132.4(F8):c.671-1G>A	coding	Pathogenic
X	154984805	T	C	T154984805C	F8	NM_000132.4(F8):c.671-2A>G	noncoding	Pathogenic
X	154987206	G	C	G154987206C	F8	NM_000132.4(F8):c.670+31C>G	noncoding	Benign
X	154987307	T	C	T154987307C	F8	NM_000132.4(F8):c.602-2A>G	noncoding	Pathogenic
X	154992919	C	T	C154992919T	F8	NM_000132.4(F8):c.601+17G>A	noncoding	Benign
X	154996972	C	T	C154996972T	F8	NM_000132.4(F8):c.388+1G>A	noncoding	Pathogenic
X	154997075	G	A	G154997075A	F8	NM_000132.4(F8):c.286C>T:p.Gln96Ter	coding	Pathogenic
X	155261115	G	A	G155261115A	RAB39B	NM_171998.4(RAB39B):c.330C>T:p.His110=	coding	Benign/Likely_benign
X	155264196	A	G	A155264196G	RAB39B	NM_171998.4(RAB39B):c.93T>C:p.Gly31=	coding	Benign/Likely_benign
X	155264774	A	G	A155264774G	RAB39B	Single_allele	noncoding	Benign
Y	12812934	C	T	C12812934T	USP9Y	NM_004654.4(USP9Y):c.4491C>T:p.Pro1497=	coding	Benign
